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{"sheet":"SupplementaryTable1","index":0,"n_rows":91261,"n_cols":5,"rows_kept":4500,"cut":true,"merged":[[0,0,0,4]],"bounds":{"rows_first":2000,"rows_last":500,"rows_between":2000,"halvings":0}}
["Supplementary Table 1: List of amino acid residues overlapping with paralogous (likely)-pathogenic variants from ClinVar or HGMD databases. For each residue the table displays all conserved missense variants in paralogous genes that have been previously annotated as (likely)-pathogenic in the ClinVar or HGMD database. If for a target residue multiple variant are found they are separated by a semicolon."]
["Gene","Aminoacid position","Reference aminoacid","Gene-family alignment position","Paralogous pathogenic variants at same alignment position "]
["A2M",257,"Gly",289,"C3(ENST00000245907):Gly262Trp"]
["A2M",364,"Pro",404,"A2ML1(ENST00000299698):Pro356Arg"]
["A2M",543,"Tyr",594,"C3(ENST00000245907):Tyr534Phe"]
["A2M",554,"Asp",609,"C3(ENST00000245907):Asp549Asn"]
["A2M",555,"Ser",610,"C3(ENST00000245907):Ser550Pro"]
["A2M",598,"Arg",657,"A2ML1(ENST00000299698):Arg592Leu"]
["A2M",804,"Arg",911,"A2ML1(ENST00000299698):Arg802His;A2ML1(ENST00000299698):Arg802Leu"]
["A2M",812,"Ala",919,"A2ML1(ENST00000299698):Ala810Thr"]
["A2M",1058,"Ile",1197,"C3(ENST00000245907):Ile1095Ser"]
["A2M",1445,"Ala",1691,"A2ML1(ENST00000299698):Ala1431Val"]
["A2ML1",247,"Gly",289,"C3(ENST00000245907):Gly262Trp"]
["A2ML1",360,"Lys",408,"C5(ENST00000223642):Lys372Arg"]
["A2ML1",537,"Tyr",594,"C3(ENST00000245907):Tyr534Phe"]
["A2ML1",548,"Asp",609,"C3(ENST00000245907):Asp549Asn"]
["A2ML1",999,"Arg",1140,"C3(ENST00000245907):Arg1042Leu;C3(ENST00000245907):Arg1042Trp;C3(ENST00000245907):Arg1042Gly"]
["A2ML1",1054,"Ile",1197,"C3(ENST00000245907):Ile1095Ser"]
["A2ML1",1072,"Pro",1216,"C3(ENST00000245907):Pro1114Leu"]
["AARS",18,"Phe",50,"AARS2(ENST00000244571):Phe50Cys"]
["AARS",46,"Met",79,"AARS2(ENST00000244571):Met79Lys"]
["AARS",117,"Met",151,"AARS2(ENST00000244571):Met151Thr"]
["AARS",121,"Leu",155,"AARS2(ENST00000244571):Leu155Arg"]
["AARS",183,"Pro",217,"AARS2(ENST00000244571):Pro217Leu"]
["AARS",303,"Arg",337,"AARS2(ENST00000244571):Arg329His"]
["AARS",325,"Arg",359,"AARS2(ENST00000244571):Arg351His"]
["AARS",379,"Glu",413,"AARS2(ENST00000244571):Glu405Lys"]
["AARS",534,"Phe",575,"AARS2(ENST00000244571):Phe564Ser"]
["AARS",648,"Gln",690,"AARS2(ENST00000244571):Gln676Pro"]
["AARS",694,"Val",736,"AARS2(ENST00000244571):Val721Ala"]
["AARS",695,"Arg",737,"AARS2(ENST00000244571):Arg722Gln"]
["AARS",756,"Thr",798,"AARS2(ENST00000244571):Thr782Ile"]
["AARS",760,"Ala",802,"AARS2(ENST00000244571):Ala786Thr"]
["AARS",938,"Ala",983,"AARS2(ENST00000244571):Ala961Val"]
["AARS",942,"Gly",987,"AARS2(ENST00000244571):Gly965Arg"]
["AARS2",104,"Asn",104,"AARS(ENST00000261772):Asn71Ser;AARS(ENST00000261772):Asn71Tyr"]
["AARS2",135,"Gly",135,"AARS(ENST00000261772):Gly102Arg"]
["AARS2",144,"Phe",144,"AARS(ENST00000261772):Phe110Leu"]
["AARS2",209,"Phe",209,"AARS(ENST00000261772):Phe175Leu"]
["AARS2",352,"Arg",360,"AARS(ENST00000261772):Arg326Trp"]
["AARS2",355,"Arg",363,"AARS(ENST00000261772):Arg329His;AARS(ENST00000261772):Arg329Cys"]
["AARS2",363,"Glu",371,"AARS(ENST00000261772):Glu337Lys"]
["AARS2",635,"Thr",649,"AARS(ENST00000261772):Thr608Met"]
["AARS2",655,"Ser",669,"AARS(ENST00000261772):Ser627Leu"]
["AARS2",715,"Glu",730,"AARS(ENST00000261772):Glu688Gly"]
["AARS2",752,"Thr",768,"AARS(ENST00000261772):Thr726Met"]
["AARS2",777,"Arg",793,"AARS(ENST00000261772):Arg751Gly"]
["ABCA1",11,"Leu",11,"ABCA4(ENST00000370225):Leu11Pro"]
["ABCA1",13,"Lys",13,"ABCA4(ENST00000370225):Lys13Glu"]
["ABCA1",14,"Asn",14,"ABCA4(ENST00000370225):Asn14Lys"]
["ABCA1",18,"Arg",18,"ABCA4(ENST00000370225):Arg18Pro;ABCA4(ENST00000370225):Arg18Gln;ABCA4(ENST00000370225):Arg18Trp"]
["ABCA1",31,"Trp",31,"ABCA4(ENST00000370225):Trp31Arg"]
["ABCA1",52,"His",52,"ABCA4(ENST00000370225):His52Gln"]
["ABCA1",54,"Cys",54,"ABCA4(ENST00000370225):Cys54Phe;ABCA4(ENST00000370225):Cys54Tyr;ABCA4(ENST00000370225):Cys54Gly"]
["ABCA1",55,"His",55,"ABCA4(ENST00000370225):His55Arg"]
["ABCA1",56,"Phe",56,"ABCA4(ENST00000370225):Phe56Ser"]
["ABCA1",58,"Asn",59,"ABCA4(ENST00000370225):Asn58Lys"]
["ABCA1",59,"Lys",60,"ABCA4(ENST00000370225):Lys59Glu"]
["ABCA1",60,"Ala",61,"ABCA4(ENST00000370225):Ala60Val;ABCA4(ENST00000370225):Ala60Thr"]
["ABCA1",61,"Met",62,"ABCA4(ENST00000370225):Met61Ile"]
["ABCA1",62,"Pro",63,"ABCA4(ENST00000370225):Pro62Ser"]
["ABCA1",63,"Ser",64,"ABCA4(ENST00000370225):Ser63Pro"]
["ABCA1",64,"Ala",65,"ABCA4(ENST00000370225):Ala64Val"]
["ABCA1",65,"Gly",66,"ABCA4(ENST00000370225):Gly65Glu"]
["ABCA1",68,"Pro",69,"ABCA4(ENST00000370225):Pro68Leu;ABCA4(ENST00000370225):Pro68Arg"]
["ABCA1",72,"Gly",73,"ABCA4(ENST00000370225):Gly72Val;ABCA4(ENST00000370225):Gly72Arg"]
["ABCA1",75,"Cys",76,"ABCA4(ENST00000370225):Cys75Gly"]
["ABCA1",88,"Gly",89,"ABCA4(ENST00000370225):Gly88Arg"]
["ABCA1",96,"Asn",97,"ABCA4(ENST00000370225):Asn96Lys;ABCA4(ENST00000370225):Asn96Asp;ABCA4(ENST00000370225):Asn96His"]
["ABCA1",100,"Ser",101,"ABCA4(ENST00000370225):Ser100Pro"]
["ABCA1",108,"Asp",109,"ABCA4(ENST00000370225):Asp108Val"]
["ABCA1",152,"Glu",173,"ABCA4(ENST00000370225):Glu161Lys"]
["ABCA1",174,"Arg",199,"ABCA4(ENST00000370225):Arg187His;ABCA4(ENST00000370225):Arg187Cys"]
["ABCA1",214,"Leu",268,"ABCA4(ENST00000370225):Leu229Pro"]
["ABCA1",215,"Cys",269,"ABCA4(ENST00000370225):Cys230Ser"]
["ABCA1",226,"Glu",280,"ABCA4(ENST00000370225):Glu241Asp"]
["ABCA1",229,"Leu",283,"ABCA4(ENST00000370225):Leu244Pro"]
["ABCA1",232,"Asn",286,"ABCA4(ENST00000370225):Asn247Ile;ABCA4(ENST00000370225):Asn247Ser;ABCA4(ENST00000370225):Asn247Thr"]
["ABCA1",234,"Asp",288,"ABCA4(ENST00000370225):Asp249Gly"]
["ABCA1",241,"Arg",304,"ABCA4(ENST00000370225):Arg255Cys"]
["ABCA1",243,"Leu",306,"ABCA4(ENST00000370225):Leu257Arg"]
["ABCA1",305,"Ser",369,"ABCA4(ENST00000370225):Ser320Cys"]
["ABCA1",313,"Glu",379,"ABCA4(ENST00000370225):Glu328Val"]
["ABCA1",321,"Ser",387,"ABCA4(ENST00000370225):Ser336Cys"]
["ABCA1",324,"Trp",390,"ABCA4(ENST00000370225):Trp339Gly"]
["ABCA1",325,"Tyr",391,"ABCA4(ENST00000370225):Tyr340Cys;ABCA4(ENST00000370225):Tyr340Asp;ABCA4(ENST00000370225):Tyr340His"]
["ABCA1",326,"Glu",392,"ABCA4(ENST00000370225):Glu341Gly"]
["ABCA1",330,"Tyr",396,"ABCA4(ENST00000370225):Tyr345Cys;ABCA4(ENST00000370225):Tyr345Ser"]
["ABCA1",331,"Lys",397,"ABCA4(ENST00000370225):Lys346Thr"]
["ABCA1",386,"Thr",496,"ABCA4(ENST00000370225):Thr401Pro"]
["ABCA1",388,"Asp",498,"ABCA4(ENST00000370225):Asp403Val"]
["ABCA1",403,"Phe",513,"ABCA4(ENST00000370225):Phe418Ser;ABCA4(ENST00000370225):Phe418Leu"]
["ABCA1",417,"Glu",527,"ABCA4(ENST00000370225):Glu432Lys"]
["ABCA1",430,"Ser",540,"ABCA4(ENST00000370225):Ser445Arg"]
["ABCA1",433,"Met",543,"ABCA4(ENST00000370225):Met448Lys"]
["ABCA1",440,"Leu",550,"ABCA4(ENST00000370225):Leu455Gln;ABCA4(ENST00000370225):Leu455Met"]
["ABCA1",489,"Asn",602,"ABCA4(ENST00000370225):Asn504His"]
["ABCA1",496,"Arg",609,"ABCA4(ENST00000370225):Arg511Cys"]
["ABCA1",504,"Cys",617,"ABCA4(ENST00000370225):Cys519Tyr;ABCA4(ENST00000370225):Cys519Arg"]
["ABCA1",511,"Glu",624,"ABCA4(ENST00000370225):Glu526Ala"]
["ABCA1",516,"Glu",629,"ABCA4(ENST00000370225):Glu531Gly"]
["ABCA1",526,"Leu",639,"ABCA4(ENST00000370225):Leu541Pro"]
["ABCA1",533,"Trp",648,"ABCA4(ENST00000370225):Trp548Arg"]
["ABCA1",534,"Ala",649,"ABCA4(ENST00000370225):Ala549Asp;ABCA4(ENST00000370225):Ala549Pro"]
["ABCA1",535,"Gly",650,"ABCA4(ENST00000370225):Gly550Arg"]
["ABCA1",538,"Phe",653,"ABCA4(ENST00000370225):Phe553Leu"]
["ABCA1",554,"Tyr",677,"ABCA4(ENST00000370225):Tyr569Cys"]
["ABCA1",557,"Arg",680,"ABCA4(ENST00000370225):Arg572Pro;ABCA4(ENST00000370225):Arg572Gln"]
["ABCA1",558,"Met",681,"ABCA4(ENST00000370225):Met573Ile"]
["ABCA1",567,"Asn",690,"ABCA4(ENST00000370225):Asn582Ser"]
["ABCA1",568,"Lys",691,"ABCA4(ENST00000370225):Lys583Asn;ABCA4(ENST00000370225):Lys583Met"]
["ABCA1",571,"Asp",694,"ABCA4(ENST00000370225):Asp586Gly"]
["ABCA1",578,"Pro",701,"ABCA4(ENST00000370225):Pro593Leu"]
["ABCA1",580,"Ala",703,"ABCA4(ENST00000370225):Ala595Thr"]
["ABCA1",582,"Pro",705,"ABCA4(ENST00000370225):Pro597Ser"]
["ABCA1",585,"Asp",708,"ABCA4(ENST00000370225):Asp600Glu;ABCA4(ENST00000370225):Asp600Tyr"]
["ABCA1",587,"Arg",710,"ABCA4(ENST00000370225):Arg602Gln;ABCA4(ENST00000370225):Arg602Trp"]
["ABCA1",588,"Tyr",711,"ABCA4(ENST00000370225):Tyr603Cys;ABCA4(ENST00000370225):Tyr603His"]
["ABCA1",592,"Gly",715,"ABCA4(ENST00000370225):Gly607Trp;ABCA4(ENST00000370225):Gly607Arg"]
["ABCA1",593,"Phe",716,"ABCA4(ENST00000370225):Phe608Tyr;ABCA4(ENST00000370225):Phe608Leu;ABCA4(ENST00000370225):Phe608Ile"]
["ABCA1",596,"Leu",719,"ABCA4(ENST00000370225):Leu611Pro"]
["ABCA1",601,"Glu",724,"ABCA4(ENST00000370225):Glu616Lys"]
["ABCA1",616,"Gly",740,"ABCA4(ENST00000370225):Gly631Arg"]
["ABCA1",620,"Gln",744,"ABCA4(ENST00000370225):Gln635Lys"]
["ABCA1",621,"Gln",745,"ABCA4(ENST00000370225):Gln636His;ABCA4(ENST00000370225):Gln636Lys"]
["ABCA1",625,"Pro",749,"ABCA4(ENST00000370225):Pro640Leu;ABCA4(ENST00000370225):Pro640Ala"]
["ABCA1",626,"Cys",750,"ABCA4(ENST00000370225):Cys641Ser;ABCA4(ENST00000370225):Cys641Arg"]
["ABCA1",628,"Val",752,"ABCA4(ENST00000370225):Val643Gly;ABCA4(ENST00000370225):Val643Met"]
["ABCA1",630,"Asp",754,"ABCA4(ENST00000370225):Asp645Asn"]
["ABCA1",638,"Arg",762,"ABCA4(ENST00000370225):Arg653Leu;ABCA4(ENST00000370225):Arg653His;ABCA4(ENST00000370225):Arg653Cys"]
["ABCA1",641,"Pro",765,"ABCA4(ENST00000370225):Pro656Leu"]
["ABCA1",644,"Met",768,"ABCA4(ENST00000370225):Met659Ile"]
["ABCA1",646,"Leu",770,"ABCA4(ENST00000370225):Leu661Arg"]
["ABCA1",663,"Lys",787,"ABCA4(ENST00000370225):Lys678Asn"]
["ABCA1",666,"Arg",790,"ABCA4(ENST00000370225):Arg681Gln"]
["ABCA1",675,"Gly",799,"ABCA4(ENST00000370225):Gly690Val"]
["ABCA1",713,"Ser",837,"ABCA4(ENST00000370225):Ser728Gly"]
["ABCA1",733,"Cys",857,"ABCA4(ENST00000370225):Cys748Tyr"]
["ABCA1",735,"Leu",859,"ABCA4(ENST00000370225):Leu750Pro"]
["ABCA1",737,"Ser",861,"ABCA4(ENST00000370225):Ser752Asn"]
["ABCA1",747,"Ala",871,"ABCA4(ENST00000370225):Ala762Glu"]
["ABCA1",749,"Cys",873,"ABCA4(ENST00000370225):Cys764Tyr"]
["ABCA1",751,"Gly",875,"ABCA4(ENST00000370225):Gly766Val"]
["ABCA1",780,"Ser",908,"ABCA4(ENST00000370225):Ser795Asn"]
["ABCA1",782,"Leu",910,"ABCA4(ENST00000370225):Leu797Pro"]
["ABCA1",790,"Gly",918,"ABCA4(ENST00000370225):Gly805Ser"]
["ABCA1",798,"Glu",926,"ABCA4(ENST00000370225):Glu813Ala;ABCA4(ENST00000370225):Glu813Lys"]
["ABCA1",801,"Gly",929,"ABCA4(ENST00000370225):Gly816Val"]
["ABCA1",803,"Gly",931,"ABCA4(ENST00000370225):Gly818Glu"]
["ABCA1",806,"Trp",934,"ABCA4(ENST00000370225):Trp821Arg"]
["ABCA1",829,"Leu",957,"ABCA4(ENST00000370225):Leu844Arg"]
["ABCA1",831,"Asp",959,"ABCA4(ENST00000370225):Asp846Val;ABCA4(ENST00000370225):Asp846His"]
["ABCA1",835,"Tyr",963,"ABCA4(ENST00000370225):Tyr850Cys"]
["ABCA1",836,"Gly",964,"ABCA4(ENST00000370225):Gly851Asp"]
["ABCA1",841,"Tyr",969,"ABCA4(ENST00000370225):Tyr856Asn"]
["ABCA1",848,"Gly",976,"ABCA4(ENST00000370225):Gly863Ala"]
["ABCA1",855,"Pro",983,"ABCA4(ENST00000370225):Pro870Leu;ABCA4(ENST00000370225):Pro870Ser"]
["ABCA1",858,"Phe",986,"ABCA4(ENST00000370225):Phe873Leu"]
["ABCA1",898,"Gly",1051,"ABCA4(ENST00000370225):Gly928Trp"]
["ABCA1",903,"Asn",1056,"ABCA4(ENST00000370225):Asn933Ile"]
["ABCA1",905,"Val",1058,"ABCA4(ENST00000370225):Val935Ala"]
["ABCA1",924,"Tyr",1077,"ABCA4(ENST00000370225):Tyr954Ser;ABCA4(ENST00000370225):Tyr954Asp"]
["ABCA1",925,"Glu",1078,"ABCA4(ENST00000370225):Glu955Gly"]
["ABCA1",927,"Gln",1080,"ABCA4(ENST00000370225):Gln957Arg;ABCA4(ENST00000370225):Gln957Lys"]
["ABCA1",929,"Thr",1082,"ABCA4(ENST00000370225):Thr959Ile;ABCA4(ENST00000370225):Thr959Ser;ABCA4(ENST00000370225):Thr959Ala"]
["ABCA1",935,"Asn",1088,"ABCA4(ENST00000370225):Asn965Lys;ABCA4(ENST00000370225):Asn965Ser;ABCA4(ENST00000370225):Asn965Tyr"]
["ABCA1",936,"Gly",1089,"ABCA4(ENST00000370225):Gly966Glu"]
["ABCA1",939,"Lys",1092,"ABCA4(ENST00000370225):Lys969Arg"]
["ABCA1",940,"Thr",1093,"ABCA4(ENST00000370225):Thr970Ile;ABCA4(ENST00000370225):Thr970Pro"]
["ABCA1",941,"Thr",1094,"ABCA4(ENST00000370225):Thr971Asn"]
["ABCA1",942,"Thr",1095,"ABCA4(ENST00000370225):Thr972Asn"]
["ABCA1",944,"Ser",1097,"ABCA4(ENST00000370225):Ser974Pro"]
["ABCA1",945,"Ile",1098,"ABCA4(ENST00000370225):Ile975Met"]
["ABCA1",947,"Thr",1100,"ABCA4(ENST00000370225):Thr977Pro"]
["ABCA1",948,"Gly",1101,"ABCA4(ENST00000370225):Gly978Asp;ABCA4(ENST00000370225):Gly978Cys"]
["ABCA1",951,"Pro",1104,"ABCA4(ENST00000370225):Pro981Leu"]
["ABCA1",953,"Thr",1106,"ABCA4(ENST00000370225):Thr983Ile;ABCA4(ENST00000370225):Thr983Ala"]
["ABCA1",955,"Gly",1108,"ABCA4(ENST00000370225):Gly985Val"]
["ABCA1",961,"Gly",1114,"ABCA4(ENST00000370225):Gly991Val;ABCA4(ENST00000370225):Gly991Arg"]
["ABCA1",972,"Arg",1125,"ABCA4(ENST00000370225):Arg1002Trp"]
["ABCA1",984,"Leu",1137,"ABCA4(ENST00000370225):Leu1014Arg"]
["ABCA1",985,"Phe",1138,"ABCA4(ENST00000370225):Phe1015Leu;ABCA4(ENST00000370225):Phe1015Ile"]
["ABCA1",989,"Thr",1142,"ABCA4(ENST00000370225):Thr1019Met;ABCA4(ENST00000370225):Thr1019Ala"]
["ABCA1",992,"Glu",1145,"ABCA4(ENST00000370225):Glu1022Gly;ABCA4(ENST00000370225):Glu1022Lys"]
["ABCA1",997,"Tyr",1150,"ABCA4(ENST00000370225):Tyr1027Cys"]
["ABCA1",998,"Ala",1151,"ABCA4(ENST00000370225):Ala1028Val"]
["ABCA1",1001,"Lys",1154,"ABCA4(ENST00000370225):Lys1031Glu"]
["ABCA1",1020,"Gly",1173,"ABCA4(ENST00000370225):Gly1050Asp;ABCA4(ENST00000370225):Gly1050Ser"]
["ABCA1",1034,"Ser",1187,"ABCA4(ENST00000370225):Ser1063Pro"]
["ABCA1",1036,"Gly",1189,"ABCA4(ENST00000370225):Gly1065Val"]
["ABCA1",1037,"Met",1190,"ABCA4(ENST00000370225):Met1066Arg"]
["ABCA1",1040,"Lys",1193,"ABCA4(ENST00000370225):Lys1069Glu"]
["ABCA1",1042,"Ser",1195,"ABCA4(ENST00000370225):Ser1071Leu"]
["ABCA1",1043,"Val",1196,"ABCA4(ENST00000370225):Val1072Ala"]
["ABCA1",1046,"Ala",1199,"ABCA4(ENST00000370225):Ala1075Asp"]
["ABCA1",1049,"Gly",1202,"ABCA4(ENST00000370225):Gly1078Glu"]
["ABCA1",1052,"Lys",1205,"ABCA4(ENST00000370225):Lys1081Asn"]
["ABCA1",1058,"Glu",1211,"ABCA4(ENST00000370225):Glu1087Asp;ABCA4(ENST00000370225):Glu1087Gly;ABCA4(ENST00000370225):Glu1087Lys"]
["ABCA1",1060,"Thr",1213,"ABCA4(ENST00000370225):Thr1089Ile"]
["ABCA1",1062,"Gly",1215,"ABCA4(ENST00000370225):Gly1091Glu"]
["ABCA1",1064,"Asp",1217,"ABCA4(ENST00000370225):Asp1093Glu"]
["ABCA1",1065,"Pro",1218,"ABCA4(ENST00000370225):Pro1094Arg;ABCA4(ENST00000370225):Pro1094Thr"]
["ABCA1",1067,"Ser",1220,"ABCA4(ENST00000370225):Ser1096Leu"]
["ABCA1",1068,"Arg",1221,"ABCA4(ENST00000370225):Arg1097Ser"]
["ABCA1",1069,"Arg",1222,"ABCA4(ENST00000370225):Arg1098Cys"]
["ABCA1",1071,"Ile",1224,"ABCA4(ENST00000370225):Ile1100Asn"]
["ABCA1",1075,"Leu",1228,"ABCA4(ENST00000370225):Leu1104Pro"]
["ABCA1",1079,"Arg",1232,"ABCA4(ENST00000370225):Arg1108Leu;ABCA4(ENST00000370225):Arg1108His;ABCA4(ENST00000370225):Arg1108Cys"]
["ABCA1",1081,"Gly",1234,"ABCA4(ENST00000370225):Gly1110Val"]
["ABCA1",1083,"Thr",1236,"ABCA4(ENST00000370225):Thr1112Asn"]
["ABCA1",1088,"Thr",1241,"ABCA4(ENST00000370225):Thr1117Ile"]
["ABCA1",1089,"His",1242,"ABCA4(ENST00000370225):His1118Tyr;ABCA4(ENST00000370225):His1118Asp"]
["ABCA1",1093,"Glu",1246,"ABCA4(ENST00000370225):Glu1122Asp;ABCA4(ENST00000370225):Glu1122Lys"]
["ABCA1",1095,"Asp",1248,"ABCA4(ENST00000370225):Asp1124Tyr"]
["ABCA1",1097,"Leu",1250,"ABCA4(ENST00000370225):Leu1126Pro"]
["ABCA1",1098,"Gly",1251,"ABCA4(ENST00000370225):Gly1127Glu"]
["ABCA1",1100,"Arg",1253,"ABCA4(ENST00000370225):Arg1129Leu;ABCA4(ENST00000370225):Arg1129His;ABCA4(ENST00000370225):Arg1129Cys"]
["ABCA1",1101,"Ile",1254,"ABCA4(ENST00000370225):Ile1130Thr"]
["ABCA1",1104,"Ile",1257,"ABCA4(ENST00000370225):Ile1133Thr"]
["ABCA1",1107,"Gly",1260,"ABCA4(ENST00000370225):Gly1136Val"]
["ABCA1",1111,"Cys",1264,"ABCA4(ENST00000370225):Cys1140Trp"]
["ABCA1",1116,"Leu",1269,"ABCA4(ENST00000370225):Leu1145His"]
["ABCA1",1130,"Leu",1283,"ABCA4(ENST00000370225):Leu1159Ser"]
["ABCA1",1179,"Asp",1332,"ABCA4(ENST00000370225):Asp1204Asn"]
["ABCA1",1194,"Ala",1347,"ABCA4(ENST00000370225):Ala1219Pro"]
["ABCA1",1221,"Leu",1374,"ABCA4(ENST00000370225):Leu1246Val"]
["ABCA1",1246,"Glu",1399,"ABCA4(ENST00000370225):Glu1271Asp;ABCA4(ENST00000370225):Glu1271Gly;ABCA4(ENST00000370225):Glu1271Gln"]
["ABCA1",1247,"Ile",1400,"ABCA4(ENST00000370225):Ile1272Thr"]
["ABCA1",1250,"Lys",1403,"ABCA4(ENST00000370225):Lys1275Asn"]
["ABCA1",1324,"Leu",1517,"ABCA4(ENST00000370225):Leu1350Pro"]
["ABCA1",1331,"Ala",1524,"ABCA4(ENST00000370225):Ala1357Val;ABCA4(ENST00000370225):Ala1357Glu;ABCA4(ENST00000370225):Ala1357Thr"]
["ABCA1",1342,"Arg",1535,"ABCA4(ENST00000370225):Arg1368Cys"]
["ABCA1",1345,"Lys",1538,"ABCA4(ENST00000370225):Lys1371Asn"]
["ABCA1",1349,"Ala",1542,"ABCA4(ENST00000370225):Ala1375Val"]
["ABCA1",1350,"Gln",1543,"ABCA4(ENST00000370225):Gln1376His"]
["ABCA1",1354,"Pro",1547,"ABCA4(ENST00000370225):Pro1380Leu"]
["ABCA1",1362,"Leu",1555,"ABCA4(ENST00000370225):Leu1388Pro"]
["ABCA1",1381,"Pro",1574,"ABCA4(ENST00000370225):Pro1407Leu"]
["ABCA1",1382,"Trp",1575,"ABCA4(ENST00000370225):Trp1408Cys;ABCA4(ENST00000370225):Trp1408Leu;ABCA4(ENST00000370225):Trp1408Arg"]
["ABCA1",1389,"Thr",1589,"ABCA4(ENST00000370225):Thr1415Pro"]
["ABCA1",1390,"Phe",1590,"ABCA4(ENST00000370225):Phe1416Leu"]
["ABCA1",1404,"Leu",1611,"ABCA4(ENST00000370225):Leu1430Pro"]
["ABCA1",1412,"Pro",1619,"ABCA4(ENST00000370225):Pro1438Arg"]
["ABCA1",1413,"Gly",1620,"ABCA4(ENST00000370225):Gly1439Asp"]
["ABCA1",1414,"Phe",1621,"ABCA4(ENST00000370225):Phe1440Ser;ABCA4(ENST00000370225):Phe1440Val"]
["ABCA1",1417,"Arg",1624,"ABCA4(ENST00000370225):Arg1443His"]
["ABCA1",1429,"Cys",1641,"ABCA4(ENST00000370225):Cys1455Arg"]
["ABCA1",1448,"Leu",1661,"ABCA4(ENST00000370225):Leu1473Met"]
["ABCA1",1461,"Pro",1678,"ABCA4(ENST00000370225):Pro1486Leu"]
["ABCA1",1463,"Cys",1723,"ABCA4(ENST00000370225):Cys1488Phe;ABCA4(ENST00000370225):Cys1488Tyr;ABCA4(ENST00000370225):Cys1488Arg"]
["ABCA1",1465,"Cys",1725,"ABCA4(ENST00000370225):Cys1490Tyr"]
["ABCA1",1477,"Cys",1737,"ABCA4(ENST00000370225):Cys1502Gly"]
["ABCA1",1478,"Pro",1738,"ABCA4(ENST00000370225):Pro1503Leu"]
["ABCA1",1481,"Ala",1741,"ABCA4(ENST00000370225):Ala1506Thr"]
["ABCA1",1482,"Gly",1742,"ABCA4(ENST00000370225):Gly1507Trp;ABCA4(ENST00000370225):Gly1507Arg"]
["ABCA1",1483,"Gly",1743,"ABCA4(ENST00000370225):Gly1508Cys"]
["ABCA1",1486,"Pro",1746,"ABCA4(ENST00000370225):Pro1511Arg;ABCA4(ENST00000370225):Pro1511His"]
["ABCA1",1487,"Pro",1747,"ABCA4(ENST00000370225):Pro1512Leu;ABCA4(ENST00000370225):Pro1512Arg"]
["ABCA1",1488,"Gln",1748,"ABCA4(ENST00000370225):Gln1513Arg"]
["ABCA1",1500,"Leu",1760,"ABCA4(ENST00000370225):Leu1525Pro"]
["ABCA1",1501,"Thr",1761,"ABCA4(ENST00000370225):Thr1526Met"]
["ABCA1",1505,"Ile",1765,"ABCA4(ENST00000370225):Ile1530Phe"]
["ABCA1",1507,"Asp",1767,"ABCA4(ENST00000370225):Asp1532Asn"]
["ABCA1",1512,"Thr",1772,"ABCA4(ENST00000370225):Thr1537Met"]
["ABCA1",1520,"Ser",1780,"ABCA4(ENST00000370225):Ser1545Asn"]
["ABCA1",1531,"Arg",1791,"ABCA4(ENST00000370225):Arg1556Thr"]
["ABCA1",1532,"Tyr",1792,"ABCA4(ENST00000370225):Tyr1557Cys"]
["ABCA1",1592,"Val",1853,"ABCA4(ENST00000370225):Val1617Met"]
["ABCA1",1593,"Trp",1854,"ABCA4(ENST00000370225):Trp1618Cys;ABCA4(ENST00000370225):Trp1618Arg"]
["ABCA1",1594,"Phe",1855,"ABCA4(ENST00000370225):Phe1619Leu"]
["ABCA1",1598,"Gly",1859,"ABCA4(ENST00000370225):Gly1623Val;ABCA4(ENST00000370225):Gly1623Arg;ABCA4(ENST00000370225):Gly1623Ser"]
["ABCA1",1600,"His",1861,"ABCA4(ENST00000370225):His1625Gln;ABCA4(ENST00000370225):His1625Tyr"]
["ABCA1",1606,"Leu",1867,"ABCA4(ENST00000370225):Leu1631Pro"]
["ABCA1",1612,"Ala",1873,"ABCA4(ENST00000370225):Ala1637Thr"]
["ABCA1",1615,"Arg",1876,"ABCA4(ENST00000370225):Arg1640Gln;ABCA4(ENST00000370225):Arg1640Trp"]
["ABCA1",1627,"Tyr",1889,"ABCA4(ENST00000370225):Tyr1652Asp"]
["ABCA1",1635,"Pro",1897,"ABCA4(ENST00000370225):Pro1660Leu;ABCA4(ENST00000370225):Pro1660Ser"]
["ABCA1",1642,"Gln",1904,"ABCA4(ENST00000370225):Gln1667Lys"]
["ABCA1",1661,"Val",1923,"ABCA4(ENST00000370225):Val1686Met"]
["ABCA1",1662,"Ile",1924,"ABCA4(ENST00000370225):Ile1687Phe"]
["ABCA1",1668,"Val",1930,"ABCA4(ENST00000370225):Val1693Ile"]
["ABCA1",1670,"Ala",1932,"ABCA4(ENST00000370225):Ala1695Asp"]
["ABCA1",1671,"Ser",1933,"ABCA4(ENST00000370225):Ser1696Arg;ABCA4(ENST00000370225):Ser1696Asn"]
["ABCA1",1678,"Gln",1940,"ABCA4(ENST00000370225):Gln1703Lys"]
["ABCA1",1680,"Arg",1942,"ABCA4(ENST00000370225):Arg1705Leu;ABCA4(ENST00000370225):Arg1705Gln;ABCA4(ENST00000370225):Arg1705Trp"]
["ABCA1",1685,"Lys",1947,"ABCA4(ENST00000370225):Lys1710Gln"]
["ABCA1",1688,"Gln",1950,"ABCA4(ENST00000370225):Gln1713Arg;ABCA4(ENST00000370225):Gln1713Lys"]
["ABCA1",1693,"Val",1955,"ABCA4(ENST00000370225):Val1718Gly"]
["ABCA1",1699,"Trp",1961,"ABCA4(ENST00000370225):Trp1724Cys"]
["ABCA1",1729,"Tyr",1991,"ABCA4(ENST00000370225):Tyr1754Asp"]
["ABCA1",1736,"Pro",1998,"ABCA4(ENST00000370225):Pro1761Arg"]
["ABCA1",1738,"Leu",2000,"ABCA4(ENST00000370225):Leu1763Pro"]
["ABCA1",1742,"Leu",2004,"ABCA4(ENST00000370225):Leu1767Pro"]
["ABCA1",1745,"Tyr",2007,"ABCA4(ENST00000370225):Tyr1770Asp"]
["ABCA1",1746,"Gly",2008,"ABCA4(ENST00000370225):Gly1771Arg"]
["ABCA1",1751,"Pro",2013,"ABCA4(ENST00000370225):Pro1776Leu"]
["ABCA1",1753,"Met",2015,"ABCA4(ENST00000370225):Met1778Lys;ABCA4(ENST00000370225):Met1778Leu"]
["ABCA1",1754,"Tyr",2016,"ABCA4(ENST00000370225):Tyr1779His"]
["ABCA1",1755,"Pro",2017,"ABCA4(ENST00000370225):Pro1780Ala"]
["ABCA1",1756,"Ala",2018,"ABCA4(ENST00000370225):Ala1781Glu"]
["ABCA1",1763,"Pro",2025,"ABCA4(ENST00000370225):Pro1788Leu"]
["ABCA1",1764,"Ser",2026,"ABCA4(ENST00000370225):Ser1789Arg"]
["ABCA1",1770,"Leu",2032,"ABCA4(ENST00000370225):Leu1795Ser"]
["ABCA1",1774,"Asn",2036,"ABCA4(ENST00000370225):Asn1799Asp"]
["ABCA1",1780,"Asn",2042,"ABCA4(ENST00000370225):Asn1805Asp"]
["ABCA1",1811,"Pro",2074,"ABCA4(ENST00000370225):Pro1837Thr"]
["ABCA1",1812,"His",2075,"ABCA4(ENST00000370225):His1838Arg;ABCA4(ENST00000370225):His1838Tyr;ABCA4(ENST00000370225):His1838Asp;ABCA4(ENST00000370225):His1838Asn"]
["ABCA1",1813,"Phe",2076,"ABCA4(ENST00000370225):Phe1839Ser"]
["ABCA1",1817,"Arg",2080,"ABCA4(ENST00000370225):Arg1843Trp"]
["ABCA1",1818,"Gly",2081,"ABCA4(ENST00000370225):Gly1844Asp;ABCA4(ENST00000370225):Gly1844Cys"]
["ABCA1",1820,"Ile",2083,"ABCA4(ENST00000370225):Ile1846Thr"]
["ABCA1",1827,"Ala",2090,"ABCA4(ENST00000370225):Ala1853Asp"]
["ABCA1",1834,"Arg",2097,"ABCA4(ENST00000370225):Arg1860Trp"]
["ABCA1",1836,"Gly",2099,"ABCA4(ENST00000370225):Gly1862Arg"]
["ABCA1",1843,"Pro",2107,"ABCA4(ENST00000370225):Pro1869Leu"]
["ABCA1",1848,"Leu",2112,"ABCA4(ENST00000370225):Leu1874Pro"]
["ABCA1",1855,"Ala",2119,"ABCA4(ENST00000370225):Ala1881Gly"]
["ABCA1",1856,"Met",2120,"ABCA4(ENST00000370225):Met1882Ile;ABCA4(ENST00000370225):Met1882Thr;ABCA4(ENST00000370225):Met1882Val"]
["ABCA1",1858,"Val",2122,"ABCA4(ENST00000370225):Val1884Glu"]
["ABCA1",1859,"Glu",2123,"ABCA4(ENST00000370225):Glu1885Lys"]
["ABCA1",1860,"Gly",2124,"ABCA4(ENST00000370225):Gly1886Glu;ABCA4(ENST00000370225):Gly1886Arg"]
["ABCA1",1892,"Asp",2156,"ABCA4(ENST00000370225):Asp1918Val"]
["ABCA1",1895,"Val",2159,"ABCA4(ENST00000370225):Val1921Gly;ABCA4(ENST00000370225):Val1921Met"]
["ABCA1",1899,"Arg",2163,"ABCA4(ENST00000370225):Arg1925Gly"]
["ABCA1",1900,"Gln",2164,"ABCA4(ENST00000370225):Gln1926Pro"]
["ABCA1",1911,"Ile",2175,"ABCA4(ENST00000370225):Ile1937Thr"]
["ABCA1",1917,"Leu",2181,"ABCA4(ENST00000370225):Leu1943Pro"]
["ABCA1",1935,"Gly",2202,"ABCA4(ENST00000370225):Gly1961Ala;ABCA4(ENST00000370225):Gly1961Glu;ABCA4(ENST00000370225):Gly1961Arg"]
["ABCA1",1944,"Leu",2211,"ABCA4(ENST00000370225):Leu1970Pro;ABCA4(ENST00000370225):Leu1970Phe"]
["ABCA1",1945,"Leu",2212,"ABCA4(ENST00000370225):Leu1971Arg"]
["ABCA1",1946,"Gly",2213,"ABCA4(ENST00000370225):Gly1972Arg"]
["ABCA1",1948,"Asn",2215,"ABCA4(ENST00000370225):Asn1974Ser"]
["ABCA1",1949,"Gly",2216,"ABCA4(ENST00000370225):Gly1975Arg"]
["ABCA1",1951,"Gly",2218,"ABCA4(ENST00000370225):Gly1977Ser"]
["ABCA1",1952,"Lys",2219,"ABCA4(ENST00000370225):Lys1978Glu"]
["ABCA1",1955,"Thr",2222,"ABCA4(ENST00000370225):Thr1981Arg"]
["ABCA1",1991,"Cys",2258,"ABCA4(ENST00000370225):Cys2017Tyr"]
["ABCA1",1997,"Ile",2264,"ABCA4(ENST00000370225):Ile2023Thr"]
["ABCA1",2000,"Leu",2267,"ABCA4(ENST00000370225):Leu2026Pro"]
["ABCA1",2001,"Leu",2268,"ABCA4(ENST00000370225):Leu2027Phe"]
["ABCA1",2004,"Arg",2271,"ABCA4(ENST00000370225):Arg2030Gln"]
["ABCA1",2006,"His",2273,"ABCA4(ENST00000370225):His2032Arg"]
["ABCA1",2011,"Ala",2278,"ABCA4(ENST00000370225):Ala2037Asp"]
["ABCA1",2014,"Arg",2281,"ABCA4(ENST00000370225):Arg2040Gln"]
["ABCA1",2015,"Gly",2282,"ABCA4(ENST00000370225):Gly2041Asp"]
["ABCA1",2016,"Val",2283,"ABCA4(ENST00000370225):Val2042Gly"]
["ABCA1",2017,"Pro",2284,"ABCA4(ENST00000370225):Pro2043Ser"]
["ABCA1",2024,"Val",2291,"ABCA4(ENST00000370225):Val2050Leu"]
["ABCA1",2032,"Leu",2299,"ABCA4(ENST00000370225):Leu2058Arg"]
["ABCA1",2034,"Leu",2301,"ABCA4(ENST00000370225):Leu2060Arg"]
["ABCA1",2045,"Tyr",2312,"ABCA4(ENST00000370225):Tyr2071Phe"]
["ABCA1",2046,"Ser",2313,"ABCA4(ENST00000370225):Ser2072Asn"]
["ABCA1",2048,"Gly",2315,"ABCA4(ENST00000370225):Gly2074Val;ABCA4(ENST00000370225):Gly2074Asp;ABCA4(ENST00000370225):Gly2074Ser"]
["ABCA1",2050,"Lys",2317,"ABCA4(ENST00000370225):Lys2076Glu"]
["ABCA1",2051,"Arg",2318,"ABCA4(ENST00000370225):Arg2077Gln;ABCA4(ENST00000370225):Arg2077Trp;ABCA4(ENST00000370225):Arg2077Gly"]
["ABCA1",2052,"Lys",2319,"ABCA4(ENST00000370225):Lys2078Glu;ABCA4(ENST00000370225):Lys2078Gln"]
["ABCA1",2058,"Ala",2325,"ABCA4(ENST00000370225):Ala2084Pro;ABCA4(ENST00000370225):Ala2084Thr"]
["ABCA1",2069,"Asp",2336,"ABCA4(ENST00000370225):Asp2095Val;ABCA4(ENST00000370225):Asp2095Gly"]
["ABCA1",2070,"Glu",2337,"ABCA4(ENST00000370225):Glu2096Val;ABCA4(ENST00000370225):Glu2096Gly;ABCA4(ENST00000370225):Glu2096Lys"]
["ABCA1",2071,"Pro",2338,"ABCA4(ENST00000370225):Pro2097Ser"]
["ABCA1",2076,"Asp",2343,"ABCA4(ENST00000370225):Asp2102Glu"]
["ABCA1",2080,"Arg",2347,"ABCA4(ENST00000370225):Arg2106Pro;ABCA4(ENST00000370225):Arg2106His;ABCA4(ENST00000370225):Arg2106Cys"]
["ABCA1",2081,"Arg",2348,"ABCA4(ENST00000370225):Arg2107Pro;ABCA4(ENST00000370225):Arg2107His;ABCA4(ENST00000370225):Arg2107Cys"]
["ABCA1",2083,"Leu",2350,"ABCA4(ENST00000370225):Leu2109Pro"]
["ABCA1",2102,"His",2369,"ABCA4(ENST00000370225):His2128Arg"]
["ABCA1",2103,"Ser",2370,"ABCA4(ENST00000370225):Ser2129Gly"]
["ABCA1",2104,"Met",2371,"ABCA4(ENST00000370225):Met2130Thr;ABCA4(ENST00000370225):Met2130Lys"]
["ABCA1",2105,"Glu",2372,"ABCA4(ENST00000370225):Glu2131Lys"]
["ABCA1",2106,"Glu",2373,"ABCA4(ENST00000370225):Glu2132Lys"]
["ABCA1",2111,"Cys",2378,"ABCA4(ENST00000370225):Cys2137Tyr"]
["ABCA1",2113,"Arg",2380,"ABCA4(ENST00000370225):Arg2139Pro;ABCA4(ENST00000370225):Arg2139Trp"]
["ABCA1",2117,"Met",2384,"ABCA4(ENST00000370225):Met2143Arg"]
["ABCA1",2120,"Gly",2387,"ABCA4(ENST00000370225):Gly2146Asp"]
["ABCA1",2123,"Arg",2390,"ABCA4(ENST00000370225):Arg2149Leu"]
["ABCA1",2124,"Cys",2391,"ABCA4(ENST00000370225):Cys2150Tyr;ABCA4(ENST00000370225):Cys2150Arg"]
["ABCA1",2126,"Gly",2393,"ABCA4(ENST00000370225):Gly2152Val;ABCA4(ENST00000370225):Gly2152Cys;ABCA4(ENST00000370225):Gly2152Ser"]
["ABCA1",2158,"Phe",2429,"ABCA4(ENST00000370225):Phe2188Ser"]
["ABCA1",2188,"Ala",2460,"ABCA4(ENST00000370225):Ala2216Val"]
["ABCA1",2201,"Leu",2473,"ABCA4(ENST00000370225):Leu2229Pro"]
["ABCA1",2204,"Glu",2476,"ABCA4(ENST00000370225):Glu2232Lys"]
["ABCA1",2210,"Gln",2482,"ABCA4(ENST00000370225):Gln2238Arg"]
["ABCA1",2213,"Leu",2485,"ABCA4(ENST00000370225):Leu2241Pro;ABCA4(ENST00000370225):Leu2241Val"]
["ABCA1",2221,"Ala",2493,"ABCA4(ENST00000370225):Ala2249Asp"]
["ABCA2",11,"Leu",11,"ABCA4(ENST00000370225):Leu11Pro"]
["ABCA2",13,"Lys",13,"ABCA4(ENST00000370225):Lys13Glu"]
["ABCA2",14,"Asn",14,"ABCA4(ENST00000370225):Asn14Lys"]
["ABCA2",56,"Phe",56,"ABCA4(ENST00000370225):Phe56Ser"]
["ABCA2",64,"Ser",64,"ABCA4(ENST00000370225):Ser63Pro"]
["ABCA2",65,"Ala",65,"ABCA4(ENST00000370225):Ala64Val"]
["ABCA2",66,"Gly",66,"ABCA4(ENST00000370225):Gly65Glu"]
["ABCA2",69,"Pro",69,"ABCA4(ENST00000370225):Pro68Leu;ABCA4(ENST00000370225):Pro68Arg"]
["ABCA2",88,"Tyr",98,"ABCA4(ENST00000370225):Tyr97Cys"]
["ABCA2",91,"Ser",101,"ABCA4(ENST00000370225):Ser100Pro;ABCA1(ENST00000374736):Ser100Cys"]
["ABCA2",135,"Pro",148,"ABCA4(ENST00000370225):Pro143Leu"]
["ABCA2",291,"Leu",306,"ABCA4(ENST00000370225):Leu257Arg"]
["ABCA2",415,"Pro",448,"ABCA1(ENST00000374736):Pro377Leu"]
["ABCA2",480,"Phe",513,"ABCA4(ENST00000370225):Phe418Ser;ABCA4(ENST00000370225):Phe418Leu"]
["ABCA2",486,"Val",519,"ABCA4(ENST00000370225):Val424Ala"]
["ABCA2",562,"Asp",605,"ABCA4(ENST00000370225):Asp507Tyr"]
["ABCA2",578,"Asp",621,"ABCA4(ENST00000370225):Asp523Glu"]
["ABCA2",580,"Phe",623,"ABCA4(ENST00000370225):Phe525Cys;ABCA4(ENST00000370225):Phe525Ser"]
["ABCA2",586,"Glu",629,"ABCA4(ENST00000370225):Glu531Gly"]
["ABCA2",606,"Ala",649,"ABCA4(ENST00000370225):Ala549Asp;ABCA4(ENST00000370225):Ala549Pro"]
["ABCA2",610,"Phe",653,"ABCA4(ENST00000370225):Phe553Leu"]
["ABCA2",624,"Tyr",677,"ABCA4(ENST00000370225):Tyr569Cys"]
["ABCA2",627,"Arg",680,"ABCA4(ENST00000370225):Arg572Pro;ABCA4(ENST00000370225):Arg572Gln"]
["ABCA2",637,"Asn",690,"ABCA4(ENST00000370225):Asn582Ser"]
["ABCA2",648,"Pro",701,"ABCA4(ENST00000370225):Pro593Leu"]
["ABCA2",659,"Gly",715,"ABCA4(ENST00000370225):Gly607Trp;ABCA4(ENST00000370225):Gly607Arg"]
["ABCA2",660,"Phe",716,"ABCA4(ENST00000370225):Phe608Tyr;ABCA4(ENST00000370225):Phe608Leu;ABCA4(ENST00000370225):Phe608Ile;ABCA1(ENST00000374736):Phe593Leu"]
["ABCA2",664,"Gln",720,"ABCA1(ENST00000374736):Gln597Arg"]
["ABCA2",668,"Glu",724,"ABCA4(ENST00000370225):Glu616Lys"]
["ABCA2",684,"Gly",740,"ABCA4(ENST00000370225):Gly631Arg"]
["ABCA2",688,"Gln",744,"ABCA4(ENST00000370225):Gln635Lys"]
["ABCA2",693,"Pro",749,"ABCA4(ENST00000370225):Pro640Leu;ABCA4(ENST00000370225):Pro640Ala"]
["ABCA2",694,"Cys",750,"ABCA4(ENST00000370225):Cys641Ser;ABCA4(ENST00000370225):Cys641Arg"]
["ABCA2",698,"Asp",754,"ABCA4(ENST00000370225):Asp645Asn"]
["ABCA2",708,"Met",764,"ABCA1(ENST00000374736):Met640Leu"]
["ABCA2",709,"Pro",765,"ABCA4(ENST00000370225):Pro656Leu"]
["ABCA2",712,"Met",768,"ABCA4(ENST00000370225):Met659Ile"]
["ABCA2",731,"Lys",787,"ABCA4(ENST00000370225):Lys678Asn"]
["ABCA2",734,"Arg",790,"ABCA4(ENST00000370225):Arg681Gln"]
["ABCA2",743,"Gly",799,"ABCA4(ENST00000370225):Gly690Val"]
["ABCA2",748,"Val",804,"ABCA4(ENST00000370225):Val695Leu"]
["ABCA2",769,"Thr",825,"ABCA4(ENST00000370225):Thr716Met"]
["ABCA2",781,"Ser",837,"ABCA4(ENST00000370225):Ser728Gly"]
["ABCA2",801,"Cys",857,"ABCA4(ENST00000370225):Cys748Tyr"]
["ABCA2",803,"Leu",859,"ABCA4(ENST00000370225):Leu750Pro"]
["ABCA2",805,"Ser",861,"ABCA4(ENST00000370225):Ser752Asn"]
["ABCA2",817,"Cys",873,"ABCA4(ENST00000370225):Cys764Tyr"]
["ABCA2",819,"Gly",875,"ABCA4(ENST00000370225):Gly766Val"]
["ABCA2",852,"Ser",908,"ABCA4(ENST00000370225):Ser795Asn"]
["ABCA2",862,"Gly",918,"ABCA4(ENST00000370225):Gly805Ser;ABCA1(ENST00000374736):Gly790Asp"]
["ABCA2",870,"Glu",926,"ABCA4(ENST00000370225):Glu813Ala;ABCA4(ENST00000370225):Glu813Lys"]
["ABCA2",873,"Gly",929,"ABCA4(ENST00000370225):Gly816Val"]
["ABCA2",875,"Gly",931,"ABCA4(ENST00000370225):Gly818Glu"]
["ABCA2",878,"Trp",934,"ABCA4(ENST00000370225):Trp821Arg"]
["ABCA2",894,"Leu",950,"ABCA4(ENST00000370225):Leu837Pro"]
["ABCA2",903,"Asp",959,"ABCA4(ENST00000370225):Asp846Val;ABCA4(ENST00000370225):Asp846His"]
["ABCA2",906,"Val",962,"ABCA4(ENST00000370225):Val849Ala"]
["ABCA2",907,"Tyr",963,"ABCA4(ENST00000370225):Tyr850Cys"]
["ABCA2",908,"Gly",964,"ABCA4(ENST00000370225):Gly851Asp"]
["ABCA2",912,"Trp",968,"ABCA1(ENST00000374736):Trp840Arg"]
["ABCA2",913,"Tyr",969,"ABCA4(ENST00000370225):Tyr856Asn"]
["ABCA2",919,"Pro",975,"ABCA1(ENST00000374736):Pro847Leu"]
["ABCA2",920,"Gly",976,"ABCA4(ENST00000370225):Gly863Ala"]
["ABCA2",927,"Pro",983,"ABCA4(ENST00000370225):Pro870Leu;ABCA4(ENST00000370225):Pro870Ser"]
["ABCA2",930,"Phe",986,"ABCA4(ENST00000370225):Phe873Leu"]
["ABCA2",1016,"Tyr",1077,"ABCA4(ENST00000370225):Tyr954Ser;ABCA4(ENST00000370225):Tyr954Asp"]
["ABCA2",1017,"Glu",1078,"ABCA4(ENST00000370225):Glu955Gly"]
["ABCA2",1019,"Gln",1080,"ABCA4(ENST00000370225):Gln957Arg;ABCA4(ENST00000370225):Gln957Lys"]
["ABCA2",1022,"Ser",1083,"ABCA1(ENST00000374736):Ser930Phe"]
["ABCA2",1027,"Asn",1088,"ABCA4(ENST00000370225):Asn965Lys;ABCA4(ENST00000370225):Asn965Ser;ABCA4(ENST00000370225):Asn965Tyr;ABCA1(ENST00000374736):Asn935Ser;ABCA1(ENST00000374736):Asn935Asp;ABCA1(ENST00000374736):Asn935His"]
["ABCA2",1028,"Gly",1089,"ABCA4(ENST00000370225):Gly966Glu"]
["ABCA2",1029,"Ala",1090,"ABCA1(ENST00000374736):Ala937Val"]
["ABCA2",1031,"Lys",1092,"ABCA4(ENST00000370225):Lys969Arg"]
["ABCA2",1032,"Thr",1093,"ABCA4(ENST00000370225):Thr970Ile;ABCA4(ENST00000370225):Thr970Pro"]
["ABCA2",1033,"Thr",1094,"ABCA4(ENST00000370225):Thr971Asn"]
["ABCA2",1034,"Thr",1095,"ABCA4(ENST00000370225):Thr972Asn"]
["ABCA2",1036,"Ser",1097,"ABCA4(ENST00000370225):Ser974Pro"]
["ABCA2",1037,"Ile",1098,"ABCA4(ENST00000370225):Ile975Met"]
["ABCA2",1039,"Thr",1100,"ABCA4(ENST00000370225):Thr977Pro"]
["ABCA2",1040,"Gly",1101,"ABCA4(ENST00000370225):Gly978Asp;ABCA4(ENST00000370225):Gly978Cys;ABCA1(ENST00000374736):Gly948Arg"]
["ABCA2",1043,"Pro",1104,"ABCA4(ENST00000370225):Pro981Leu"]
["ABCA2",1045,"Thr",1106,"ABCA4(ENST00000370225):Thr983Ile;ABCA4(ENST00000370225):Thr983Ala"]
["ABCA2",1047,"Gly",1108,"ABCA4(ENST00000370225):Gly985Val"]
["ABCA2",1053,"Gly",1114,"ABCA4(ENST00000370225):Gly991Val;ABCA4(ENST00000370225):Gly991Arg"]
["ABCA2",1060,"Met",1121,"ABCA1(ENST00000374736):Met968Thr"]
["ABCA2",1064,"Arg",1125,"ABCA4(ENST00000370225):Arg1002Trp"]
["ABCA2",1076,"Leu",1137,"ABCA4(ENST00000370225):Leu1014Arg"]
["ABCA2",1077,"Phe",1138,"ABCA4(ENST00000370225):Phe1015Leu;ABCA4(ENST00000370225):Phe1015Ile"]
["ABCA2",1081,"Thr",1142,"ABCA4(ENST00000370225):Thr1019Met;ABCA4(ENST00000370225):Thr1019Ala"]
["ABCA2",1084,"Glu",1145,"ABCA4(ENST00000370225):Glu1022Gly;ABCA4(ENST00000370225):Glu1022Lys"]
["ABCA2",1089,"Tyr",1150,"ABCA4(ENST00000370225):Tyr1027Cys"]
["ABCA2",1093,"Lys",1154,"ABCA4(ENST00000370225):Lys1031Glu"]
["ABCA2",1098,"Glu",1159,"ABCA4(ENST00000370225):Glu1036Lys"]
["ABCA2",1117,"Arg",1179,"ABCA4(ENST00000370225):Arg1055Trp"]
["ABCA2",1125,"Ser",1187,"ABCA4(ENST00000370225):Ser1063Pro"]
["ABCA2",1127,"Gly",1189,"ABCA4(ENST00000370225):Gly1065Val"]
["ABCA2",1128,"Met",1190,"ABCA4(ENST00000370225):Met1066Arg"]
["ABCA2",1131,"Lys",1193,"ABCA4(ENST00000370225):Lys1069Glu"]
["ABCA2",1132,"Leu",1194,"ABCA1(ENST00000374736):Leu1041Val"]
["ABCA2",1133,"Ser",1195,"ABCA4(ENST00000370225):Ser1071Leu"]
["ABCA2",1134,"Val",1196,"ABCA4(ENST00000370225):Val1072Ala"]
["ABCA2",1136,"Ile",1198,"ABCA4(ENST00000370225):Ile1074Leu"]
["ABCA2",1137,"Ala",1199,"ABCA4(ENST00000370225):Ala1075Asp;ABCA1(ENST00000374736):Ala1046Asp"]
["ABCA2",1140,"Gly",1202,"ABCA4(ENST00000370225):Gly1078Glu"]
["ABCA2",1147,"Leu",1209,"ABCA1(ENST00000374736):Leu1056Pro"]
["ABCA2",1149,"Glu",1211,"ABCA4(ENST00000370225):Glu1087Asp;ABCA4(ENST00000370225):Glu1087Gly;ABCA4(ENST00000370225):Glu1087Lys"]
["ABCA2",1151,"Thr",1213,"ABCA4(ENST00000370225):Thr1089Ile"]
["ABCA2",1153,"Gly",1215,"ABCA4(ENST00000370225):Gly1091Glu"]
["ABCA2",1155,"Asp",1217,"ABCA4(ENST00000370225):Asp1093Glu"]
["ABCA2",1156,"Pro",1218,"ABCA4(ENST00000370225):Pro1094Arg;ABCA4(ENST00000370225):Pro1094Thr;ABCA1(ENST00000374736):Pro1065Ser"]
["ABCA2",1159,"Arg",1221,"ABCA4(ENST00000370225):Arg1097Ser;ABCA1(ENST00000374736):Arg1068His;ABCA1(ENST00000374736):Arg1068Cys"]
["ABCA2",1160,"Arg",1222,"ABCA4(ENST00000370225):Arg1098Cys"]
["ABCA2",1162,"Ile",1224,"ABCA4(ENST00000370225):Ile1100Asn"]
["ABCA2",1164,"Asp",1226,"ABCA4(ENST00000370225):Asp1102Val;ABCA4(ENST00000370225):Asp1102Tyr"]
["ABCA2",1172,"Gly",1234,"ABCA4(ENST00000370225):Gly1110Val;ABCA1(ENST00000374736):Gly1081Val"]
["ABCA2",1174,"Thr",1236,"ABCA4(ENST00000370225):Thr1112Asn"]
["ABCA2",1179,"Thr",1241,"ABCA4(ENST00000370225):Thr1117Ile"]
["ABCA2",1180,"His",1242,"ABCA4(ENST00000370225):His1118Tyr;ABCA4(ENST00000370225):His1118Asp"]
["ABCA2",1182,"Met",1244,"ABCA1(ENST00000374736):Met1091Thr"]
["ABCA2",1184,"Glu",1246,"ABCA4(ENST00000370225):Glu1122Asp;ABCA4(ENST00000370225):Glu1122Lys"]
["ABCA2",1186,"Asp",1248,"ABCA4(ENST00000370225):Asp1124Tyr"]
["ABCA2",1188,"Leu",1250,"ABCA4(ENST00000370225):Leu1126Pro;ABCA1(ENST00000374736):Leu1097Pro"]
["ABCA2",1189,"Gly",1251,"ABCA4(ENST00000370225):Gly1127Glu"]
["ABCA2",1190,"Asp",1252,"ABCA1(ENST00000374736):Asp1099Tyr"]
["ABCA2",1191,"Arg",1253,"ABCA4(ENST00000370225):Arg1129Leu;ABCA4(ENST00000370225):Arg1129His;ABCA4(ENST00000370225):Arg1129Cys"]
["ABCA2",1192,"Ile",1254,"ABCA4(ENST00000370225):Ile1130Thr"]
["ABCA2",1195,"Ile",1257,"ABCA4(ENST00000370225):Ile1133Thr"]
["ABCA2",1198,"Gly",1260,"ABCA4(ENST00000370225):Gly1136Val"]
["ABCA2",1202,"Cys",1264,"ABCA4(ENST00000370225):Cys1140Trp"]
["ABCA2",1207,"Leu",1269,"ABCA4(ENST00000370225):Leu1145His"]
["ABCA2",1221,"Leu",1283,"ABCA4(ENST00000370225):Leu1159Ser"]
["ABCA2",1287,"Gly",1369,"ABCA1(ENST00000374736):Gly1216Val"]
["ABCA2",1292,"Leu",1374,"ABCA4(ENST00000370225):Leu1246Val"]
["ABCA2",1296,"Leu",1378,"ABCA4(ENST00000370225):Leu1250Pro"]
["ABCA2",1315,"Leu",1397,"ABCA1(ENST00000374736):Leu1244Gln"]
["ABCA2",1317,"Glu",1399,"ABCA4(ENST00000370225):Glu1271Asp;ABCA4(ENST00000370225):Glu1271Gly;ABCA4(ENST00000370225):Glu1271Gln"]
["ABCA2",1321,"Lys",1403,"ABCA4(ENST00000370225):Lys1275Asn"]
["ABCA2",1324,"Glu",1406,"ABCA1(ENST00000374736):Glu1253Lys"]
["ABCA2",1370,"Gln",1452,"ABCA1(ENST00000374736):Gln1279Lys"]
["ABCA2",1435,"Leu",1517,"ABCA4(ENST00000370225):Leu1350Pro"]
["ABCA2",1453,"Arg",1535,"ABCA4(ENST00000370225):Arg1368Cys"]
["ABCA2",1456,"Lys",1538,"ABCA4(ENST00000370225):Lys1371Asn"]
["ABCA2",1461,"Gln",1543,"ABCA4(ENST00000370225):Gln1376His"]
["ABCA2",1465,"Pro",1547,"ABCA4(ENST00000370225):Pro1380Leu"]
["ABCA2",1490,"Leu",1572,"ABCA1(ENST00000374736):Leu1379Phe"]
["ABCA2",1492,"Pro",1574,"ABCA4(ENST00000370225):Pro1407Leu"]
["ABCA2",1503,"Gly",1585,"ABCA4(ENST00000370225):Gly1411Arg"]
["ABCA2",1529,"Leu",1611,"ABCA4(ENST00000370225):Leu1430Pro"]
["ABCA2",1538,"Gly",1620,"ABCA4(ENST00000370225):Gly1439Asp"]
["ABCA2",1596,"Pro",1678,"ABCA4(ENST00000370225):Pro1486Leu"]
["ABCA2",1641,"Cys",1723,"ABCA4(ENST00000370225):Cys1488Phe;ABCA4(ENST00000370225):Cys1488Tyr;ABCA4(ENST00000370225):Cys1488Arg"]
["ABCA2",1643,"Cys",1725,"ABCA4(ENST00000370225):Cys1490Tyr"]
["ABCA2",1652,"Cys",1737,"ABCA4(ENST00000370225):Cys1502Gly;ABCA1(ENST00000374736):Cys1477Arg"]
["ABCA2",1653,"Pro",1738,"ABCA4(ENST00000370225):Pro1503Leu"]
["ABCA2",1657,"Gly",1742,"ABCA4(ENST00000370225):Gly1507Trp;ABCA4(ENST00000370225):Gly1507Arg"]
["ABCA2",1658,"Gly",1743,"ABCA4(ENST00000370225):Gly1508Cys"]
["ABCA2",1661,"Pro",1746,"ABCA4(ENST00000370225):Pro1511Arg;ABCA4(ENST00000370225):Pro1511His"]
["ABCA2",1675,"Thr",1761,"ABCA4(ENST00000370225):Thr1526Met"]
["ABCA2",1680,"Ser",1766,"ABCA1(ENST00000374736):Ser1506Leu"]
["ABCA2",1686,"Thr",1772,"ABCA4(ENST00000370225):Thr1537Met;ABCA1(ENST00000374736):Thr1512Met"]
["ABCA2",1694,"Arg",1791,"ABCA4(ENST00000370225):Arg1556Thr"]
["ABCA2",1695,"Tyr",1792,"ABCA4(ENST00000370225):Tyr1557Cys;ABCA1(ENST00000374736):Tyr1532Cys"]
["ABCA2",1704,"Leu",1802,"ABCA4(ENST00000370225):Leu1566Phe"]
["ABCA2",1730,"Val",1853,"ABCA4(ENST00000370225):Val1617Met"]
["ABCA2",1736,"Gly",1859,"ABCA4(ENST00000370225):Gly1623Val;ABCA4(ENST00000370225):Gly1623Arg;ABCA4(ENST00000370225):Gly1623Ser"]
["ABCA2",1738,"His",1861,"ABCA4(ENST00000370225):His1625Gln;ABCA4(ENST00000370225):His1625Tyr;ABCA1(ENST00000374736):His1600Arg"]
["ABCA2",1744,"Leu",1867,"ABCA4(ENST00000370225):Leu1631Pro"]
["ABCA2",1749,"Asn",1872,"ABCA1(ENST00000374736):Asn1611Asp"]
["ABCA2",1750,"Ala",1873,"ABCA4(ENST00000370225):Ala1637Thr"]
["ABCA2",1753,"Arg",1876,"ABCA4(ENST00000370225):Arg1640Gln;ABCA4(ENST00000370225):Arg1640Trp;ABCA1(ENST00000374736):Arg1615Pro;ABCA1(ENST00000374736):Arg1615Trp"]
["ABCA2",1766,"Tyr",1889,"ABCA4(ENST00000370225):Tyr1652Asp"]
["ABCA2",1774,"Pro",1897,"ABCA4(ENST00000370225):Pro1660Leu;ABCA4(ENST00000370225):Pro1660Ser"]
["ABCA2",1800,"Ile",1924,"ABCA4(ENST00000370225):Ile1687Phe"]
["ABCA2",1806,"Val",1930,"ABCA4(ENST00000370225):Val1693Ile"]
["ABCA2",1808,"Ala",1932,"ABCA4(ENST00000370225):Ala1695Asp"]
["ABCA2",1809,"Ser",1933,"ABCA4(ENST00000370225):Ser1696Arg;ABCA4(ENST00000370225):Ser1696Asn"]
["ABCA2",1812,"Val",1936,"ABCA1(ENST00000374736):Val1674Ala;ABCA1(ENST00000374736):Val1674Ile"]
["ABCA2",1823,"Lys",1947,"ABCA4(ENST00000370225):Lys1710Gln"]
["ABCA2",1826,"Gln",1950,"ABCA4(ENST00000370225):Gln1713Arg;ABCA4(ENST00000370225):Gln1713Lys"]
["ABCA2",1837,"Trp",1961,"ABCA4(ENST00000370225):Trp1724Cys;ABCA1(ENST00000374736):Trp1699Cys"]
["ABCA2",1842,"Val",1966,"ABCA1(ENST00000374736):Val1704Asp"]
["ABCA2",1867,"Tyr",1991,"ABCA4(ENST00000370225):Tyr1754Asp"]
["ABCA2",1869,"Ser",1993,"ABCA1(ENST00000374736):Ser1731Cys"]
["ABCA2",1874,"Pro",1998,"ABCA4(ENST00000370225):Pro1761Arg"]
["ABCA2",1875,"Ala",1999,"ABCA4(ENST00000370225):Ala1762Asp"]
["ABCA2",1883,"Tyr",2007,"ABCA4(ENST00000370225):Tyr1770Asp"]
["ABCA2",1884,"Gly",2008,"ABCA4(ENST00000370225):Gly1771Arg"]
["ABCA2",1887,"Ile",2011,"ABCA1(ENST00000374736):Ile1749Val"]
["ABCA2",1889,"Pro",2013,"ABCA4(ENST00000370225):Pro1776Leu"]
["ABCA2",1891,"Met",2015,"ABCA4(ENST00000370225):Met1778Lys;ABCA4(ENST00000370225):Met1778Leu"]
["ABCA2",1892,"Tyr",2016,"ABCA4(ENST00000370225):Tyr1779His"]
["ABCA2",1893,"Pro",2017,"ABCA4(ENST00000370225):Pro1780Ala"]
["ABCA2",1894,"Ala",2018,"ABCA4(ENST00000370225):Ala1781Glu"]
["ABCA2",1901,"Pro",2025,"ABCA4(ENST00000370225):Pro1788Leu"]
["ABCA2",1902,"Ser",2026,"ABCA4(ENST00000370225):Ser1789Arg"]
["ABCA2",1905,"Tyr",2029,"ABCA1(ENST00000374736):Tyr1767Cys;ABCA1(ENST00000374736):Tyr1767Asp"]
["ABCA2",1908,"Leu",2032,"ABCA4(ENST00000370225):Leu1795Ser"]
["ABCA2",1912,"Asn",2036,"ABCA4(ENST00000370225):Asn1799Asp"]
["ABCA2",1939,"Asn",2063,"ABCA1(ENST00000374736):Asn1800Ser;ABCA1(ENST00000374736):Asn1800His"]
["ABCA2",1950,"Pro",2074,"ABCA4(ENST00000370225):Pro1837Thr"]
["ABCA2",1957,"Gly",2081,"ABCA4(ENST00000370225):Gly1844Asp;ABCA4(ENST00000370225):Gly1844Cys"]
["ABCA2",1971,"Tyr",2095,"ABCA4(ENST00000370225):Tyr1858Asp;ABCA4(ENST00000370225):Tyr1858Asn"]
["ABCA2",1975,"Gly",2099,"ABCA4(ENST00000370225):Gly1862Arg"]
["ABCA2",1983,"Pro",2107,"ABCA4(ENST00000370225):Pro1869Leu"]
["ABCA2",1991,"Arg",2115,"ABCA1(ENST00000374736):Arg1851Gln"]
["ABCA2",1995,"Ala",2119,"ABCA4(ENST00000370225):Ala1881Gly"]
["ABCA2",1996,"Met",2120,"ABCA4(ENST00000370225):Met1882Ile;ABCA4(ENST00000370225):Met1882Thr;ABCA4(ENST00000370225):Met1882Val"]
["ABCA2",1998,"Val",2122,"ABCA4(ENST00000370225):Val1884Glu"]
["ABCA2",1999,"Glu",2123,"ABCA4(ENST00000370225):Glu1885Lys"]
["ABCA2",2000,"Gly",2124,"ABCA4(ENST00000370225):Gly1886Glu;ABCA4(ENST00000370225):Gly1886Arg"]
["ABCA2",2031,"Asp",2156,"ABCA4(ENST00000370225):Asp1918Val"]
["ABCA2",2034,"Val",2159,"ABCA4(ENST00000370225):Val1921Gly;ABCA4(ENST00000370225):Val1921Met"]
["ABCA2",2038,"Arg",2163,"ABCA4(ENST00000370225):Arg1925Gly"]
["ABCA2",2039,"Gln",2164,"ABCA4(ENST00000370225):Gln1926Pro"]
["ABCA2",2040,"Arg",2165,"ABCA1(ENST00000374736):Arg1901Ser"]
["ABCA2",2056,"Leu",2181,"ABCA4(ENST00000370225):Leu1943Pro"]
["ABCA2",2067,"Arg",2192,"ABCA1(ENST00000374736):Arg1925Gln"]
["ABCA2",2077,"Gly",2202,"ABCA4(ENST00000370225):Gly1961Ala;ABCA4(ENST00000370225):Gly1961Glu;ABCA4(ENST00000370225):Gly1961Arg"]
["ABCA2",2083,"Cys",2208,"ABCA1(ENST00000374736):Cys1941Arg"]
["ABCA2",2086,"Leu",2211,"ABCA4(ENST00000370225):Leu1970Pro;ABCA4(ENST00000370225):Leu1970Phe"]
["ABCA2",2087,"Leu",2212,"ABCA4(ENST00000370225):Leu1971Arg"]
["ABCA2",2088,"Gly",2213,"ABCA4(ENST00000370225):Gly1972Arg"]
["ABCA2",2090,"Asn",2215,"ABCA4(ENST00000370225):Asn1974Ser;ABCA1(ENST00000374736):Asn1948Ser"]
["ABCA2",2091,"Gly",2216,"ABCA4(ENST00000370225):Gly1975Arg"]
["ABCA2",2093,"Gly",2218,"ABCA4(ENST00000370225):Gly1977Ser"]
["ABCA2",2094,"Lys",2219,"ABCA4(ENST00000370225):Lys1978Glu"]
["ABCA2",2095,"Thr",2220,"ABCA4(ENST00000370225):Thr1979Ile"]
["ABCA2",2097,"Thr",2222,"ABCA4(ENST00000370225):Thr1981Arg"]
["ABCA2",2133,"Cys",2258,"ABCA4(ENST00000370225):Cys2017Tyr"]
["ABCA2",2143,"Leu",2268,"ABCA4(ENST00000370225):Leu2027Phe"]
["ABCA2",2146,"Arg",2271,"ABCA4(ENST00000370225):Arg2030Gln"]
["ABCA2",2148,"His",2273,"ABCA4(ENST00000370225):His2032Arg"]
["ABCA2",2149,"Leu",2274,"ABCA4(ENST00000370225):Leu2033Arg;ABCA4(ENST00000370225):Leu2033Pro;ABCA4(ENST00000370225):Leu2033His"]
["ABCA2",2151,"Leu",2276,"ABCA4(ENST00000370225):Leu2035Pro"]
["ABCA2",2154,"Arg",2279,"ABCA4(ENST00000370225):Arg2038Trp"]
["ABCA2",2156,"Arg",2281,"ABCA4(ENST00000370225):Arg2040Gln"]
["ABCA2",2157,"Gly",2282,"ABCA4(ENST00000370225):Gly2041Asp"]
["ABCA2",2166,"Val",2291,"ABCA4(ENST00000370225):Val2050Leu"]
["ABCA2",2174,"Leu",2299,"ABCA4(ENST00000370225):Leu2058Arg"]
["ABCA2",2176,"Leu",2301,"ABCA4(ENST00000370225):Leu2060Arg"]
["ABCA2",2180,"Ala",2305,"ABCA4(ENST00000370225):Ala2064Val;ABCA4(ENST00000370225):Ala2064Pro;ABCA4(ENST00000370225):Ala2064Thr"]
["ABCA2",2186,"Thr",2311,"ABCA4(ENST00000370225):Thr2070Arg"]
["ABCA2",2187,"Tyr",2312,"ABCA4(ENST00000370225):Tyr2071Phe"]
["ABCA2",2188,"Ser",2313,"ABCA4(ENST00000370225):Ser2072Asn;ABCA1(ENST00000374736):Ser2046Asn"]
["ABCA2",2190,"Gly",2315,"ABCA4(ENST00000370225):Gly2074Val;ABCA4(ENST00000370225):Gly2074Asp;ABCA4(ENST00000370225):Gly2074Ser"]
["ABCA2",2192,"Lys",2317,"ABCA4(ENST00000370225):Lys2076Glu"]
["ABCA2",2193,"Arg",2318,"ABCA4(ENST00000370225):Arg2077Gln;ABCA4(ENST00000370225):Arg2077Trp;ABCA4(ENST00000370225):Arg2077Gly"]
["ABCA2",2194,"Lys",2319,"ABCA4(ENST00000370225):Lys2078Glu;ABCA4(ENST00000370225):Lys2078Gln"]
["ABCA2",2200,"Ala",2325,"ABCA4(ENST00000370225):Ala2084Pro;ABCA4(ENST00000370225):Ala2084Thr"]
["ABCA2",2211,"Asp",2336,"ABCA4(ENST00000370225):Asp2095Val;ABCA4(ENST00000370225):Asp2095Gly"]
["ABCA2",2212,"Glu",2337,"ABCA4(ENST00000370225):Glu2096Val;ABCA4(ENST00000370225):Glu2096Gly;ABCA4(ENST00000370225):Glu2096Lys"]
["ABCA2",2213,"Pro",2338,"ABCA4(ENST00000370225):Pro2097Ser"]
["ABCA2",2218,"Asp",2343,"ABCA4(ENST00000370225):Asp2102Glu"]
["ABCA2",2219,"Pro",2344,"ABCA1(ENST00000374736):Pro2077His"]
["ABCA2",2222,"Arg",2347,"ABCA4(ENST00000370225):Arg2106Pro;ABCA4(ENST00000370225):Arg2106His;ABCA4(ENST00000370225):Arg2106Cys;ABCA1(ENST00000374736):Arg2080Gln"]
["ABCA2",2223,"Arg",2348,"ABCA4(ENST00000370225):Arg2107Pro;ABCA4(ENST00000370225):Arg2107His;ABCA4(ENST00000370225):Arg2107Cys;ABCA1(ENST00000374736):Arg2081Trp"]
["ABCA2",2225,"Leu",2350,"ABCA4(ENST00000370225):Leu2109Pro"]
["ABCA2",2229,"Ile",2354,"ABCA4(ENST00000370225):Ile2113Met"]
["ABCA2",2244,"His",2369,"ABCA4(ENST00000370225):His2128Arg"]
["ABCA2",2245,"Ser",2370,"ABCA4(ENST00000370225):Ser2129Gly"]
["ABCA2",2246,"Met",2371,"ABCA4(ENST00000370225):Met2130Thr;ABCA4(ENST00000370225):Met2130Lys"]
["ABCA2",2247,"Glu",2372,"ABCA4(ENST00000370225):Glu2131Lys"]
["ABCA2",2248,"Glu",2373,"ABCA4(ENST00000370225):Glu2132Lys"]
["ABCA2",2249,"Cys",2374,"ABCA1(ENST00000374736):Cys2107Arg"]
["ABCA2",2253,"Cys",2378,"ABCA4(ENST00000370225):Cys2137Tyr"]
["ABCA2",2255,"Arg",2380,"ABCA4(ENST00000370225):Arg2139Pro;ABCA4(ENST00000370225):Arg2139Trp"]
["ABCA2",2256,"Leu",2381,"ABCA4(ENST00000370225):Leu2140Arg;ABCA4(ENST00000370225):Leu2140Gln"]
["ABCA2",2259,"Met",2384,"ABCA4(ENST00000370225):Met2143Arg"]
["ABCA2",2262,"Gly",2387,"ABCA4(ENST00000370225):Gly2146Asp"]
["ABCA2",2265,"Arg",2390,"ABCA4(ENST00000370225):Arg2149Leu"]
["ABCA2",2266,"Cys",2391,"ABCA4(ENST00000370225):Cys2150Tyr;ABCA4(ENST00000370225):Cys2150Arg"]
["ABCA2",2268,"Gly",2393,"ABCA4(ENST00000370225):Gly2152Val;ABCA4(ENST00000370225):Gly2152Cys;ABCA4(ENST00000370225):Gly2152Ser"]
["ABCA2",2288,"Lys",2413,"ABCA4(ENST00000370225):Lys2172Arg"]
["ABCA2",2299,"Phe",2429,"ABCA4(ENST00000370225):Phe2188Ser"]
["ABCA2",2319,"Tyr",2449,"ABCA1(ENST00000374736):Tyr2178His"]
["ABCA2",2329,"Ala",2460,"ABCA4(ENST00000370225):Ala2216Val"]
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["ABCA7",976,"Arg",1222,"ABCA4(ENST00000370225):Arg1098Cys"]
["ABCA7",978,"Ile",1224,"ABCA4(ENST00000370225):Ile1100Asn"]
["ABCA7",982,"Leu",1228,"ABCA4(ENST00000370225):Leu1104Pro"]
["ABCA7",986,"Arg",1232,"ABCA4(ENST00000370225):Arg1108Leu;ABCA4(ENST00000370225):Arg1108His;ABCA4(ENST00000370225):Arg1108Cys"]
["ABCA7",988,"Gly",1234,"ABCA4(ENST00000370225):Gly1110Val;ABCA1(ENST00000374736):Gly1081Val"]
["ABCA7",990,"Thr",1236,"ABCA4(ENST00000370225):Thr1112Asn"]
["ABCA7",995,"Thr",1241,"ABCA4(ENST00000370225):Thr1117Ile"]
["ABCA7",996,"His",1242,"ABCA4(ENST00000370225):His1118Tyr;ABCA4(ENST00000370225):His1118Asp"]
["ABCA7",1000,"Glu",1246,"ABCA4(ENST00000370225):Glu1122Asp;ABCA4(ENST00000370225):Glu1122Lys"]
["ABCA7",1004,"Leu",1250,"ABCA4(ENST00000370225):Leu1126Pro;ABCA1(ENST00000374736):Leu1097Pro"]
["ABCA7",1005,"Gly",1251,"ABCA4(ENST00000370225):Gly1127Glu"]
["ABCA7",1006,"Asp",1252,"ABCA1(ENST00000374736):Asp1099Tyr"]
["ABCA7",1007,"Arg",1253,"ABCA4(ENST00000370225):Arg1129Leu;ABCA4(ENST00000370225):Arg1129His;ABCA4(ENST00000370225):Arg1129Cys"]
["ABCA7",1014,"Gly",1260,"ABCA4(ENST00000370225):Gly1136Val"]
["ABCA7",1018,"Cys",1264,"ABCA4(ENST00000370225):Cys1140Trp"]
["ABCA7",1023,"Leu",1269,"ABCA4(ENST00000370225):Leu1145His"]
["ABCA7",1037,"Leu",1283,"ABCA4(ENST00000370225):Leu1159Ser"]
["ABCA7",1089,"Ala",1347,"ABCA4(ENST00000370225):Ala1219Pro"]
["ABCA7",1111,"Gly",1369,"ABCA1(ENST00000374736):Gly1216Val"]
["ABCA7",1116,"Leu",1374,"ABCA4(ENST00000370225):Leu1246Val"]
["ABCA7",1120,"Leu",1378,"ABCA4(ENST00000370225):Leu1250Pro"]
["ABCA7",1139,"Leu",1397,"ABCA1(ENST00000374736):Leu1244Gln"]
["ABCA7",1141,"Glu",1399,"ABCA4(ENST00000370225):Glu1271Asp;ABCA4(ENST00000370225):Glu1271Gly;ABCA4(ENST00000370225):Glu1271Gln"]
["ABCA7",1142,"Ile",1400,"ABCA4(ENST00000370225):Ile1272Thr"]
["ABCA7",1145,"Lys",1403,"ABCA4(ENST00000370225):Lys1275Asn"]
["ABCA7",1148,"Glu",1406,"ABCA1(ENST00000374736):Glu1253Lys"]
["ABCA7",1216,"Leu",1517,"ABCA4(ENST00000370225):Leu1350Pro"]
["ABCA7",1223,"Ala",1524,"ABCA4(ENST00000370225):Ala1357Val;ABCA4(ENST00000370225):Ala1357Glu;ABCA4(ENST00000370225):Ala1357Thr"]
["ABCA7",1234,"Arg",1535,"ABCA4(ENST00000370225):Arg1368Cys"]
["ABCA7",1238,"Gly",1539,"ABCA1(ENST00000374736):Gly1346Glu"]
["ABCA7",1241,"Ala",1542,"ABCA4(ENST00000370225):Ala1375Val"]
["ABCA7",1242,"Gln",1543,"ABCA4(ENST00000370225):Gln1376His"]
["ABCA7",1246,"Pro",1547,"ABCA4(ENST00000370225):Pro1380Leu"]
["ABCA7",1254,"Leu",1555,"ABCA4(ENST00000370225):Leu1388Pro"]
["ABCA7",1271,"Leu",1572,"ABCA1(ENST00000374736):Leu1379Phe"]
["ABCA7",1273,"Pro",1574,"ABCA4(ENST00000370225):Pro1407Leu"]
["ABCA7",1277,"Gly",1585,"ABCA4(ENST00000370225):Gly1411Arg"]
["ABCA7",1282,"Phe",1590,"ABCA4(ENST00000370225):Phe1416Leu"]
["ABCA7",1296,"Leu",1611,"ABCA4(ENST00000370225):Leu1430Pro"]
["ABCA7",1305,"Gly",1620,"ABCA4(ENST00000370225):Gly1439Asp"]
["ABCA7",1343,"Pro",1678,"ABCA4(ENST00000370225):Pro1486Leu"]
["ABCA7",1345,"Cys",1723,"ABCA4(ENST00000370225):Cys1488Phe;ABCA4(ENST00000370225):Cys1488Tyr;ABCA4(ENST00000370225):Cys1488Arg"]
["ABCA7",1347,"Cys",1725,"ABCA4(ENST00000370225):Cys1490Tyr"]
["ABCA7",1359,"Cys",1737,"ABCA4(ENST00000370225):Cys1502Gly;ABCA1(ENST00000374736):Cys1477Arg"]
["ABCA7",1360,"Pro",1738,"ABCA4(ENST00000370225):Pro1503Leu"]
["ABCA7",1363,"Ala",1741,"ABCA4(ENST00000370225):Ala1506Thr"]
["ABCA7",1364,"Gly",1742,"ABCA4(ENST00000370225):Gly1507Trp;ABCA4(ENST00000370225):Gly1507Arg"]
["ABCA7",1365,"Gly",1743,"ABCA4(ENST00000370225):Gly1508Cys"]
["ABCA7",1368,"Pro",1746,"ABCA4(ENST00000370225):Pro1511Arg;ABCA4(ENST00000370225):Pro1511His"]
["ABCA7",1369,"Pro",1747,"ABCA4(ENST00000370225):Pro1512Leu;ABCA4(ENST00000370225):Pro1512Arg"]
["ABCA7",1370,"Gln",1748,"ABCA4(ENST00000370225):Gln1513Arg"]
["ABCA7",1375,"Ser",1753,"ABCA4(ENST00000370225):Ser1518Asn;ABCA4(ENST00000370225):Ser1518Arg"]
["ABCA7",1377,"Glu",1755,"ABCA4(ENST00000370225):Glu1520Gly"]
["ABCA7",1382,"Leu",1760,"ABCA4(ENST00000370225):Leu1525Pro"]
["ABCA7",1383,"Thr",1761,"ABCA4(ENST00000370225):Thr1526Met"]
["ABCA7",1388,"Ser",1766,"ABCA1(ENST00000374736):Ser1506Leu"]
["ABCA7",1389,"Asp",1767,"ABCA4(ENST00000370225):Asp1532Asn"]
["ABCA7",1394,"Thr",1772,"ABCA4(ENST00000370225):Thr1537Met;ABCA1(ENST00000374736):Thr1512Met"]
["ABCA7",1398,"Leu",1776,"ABCA4(ENST00000370225):Leu1541Pro"]
["ABCA7",1413,"Arg",1791,"ABCA4(ENST00000370225):Arg1556Thr"]
["ABCA7",1414,"Tyr",1792,"ABCA4(ENST00000370225):Tyr1557Cys;ABCA1(ENST00000374736):Tyr1532Cys"]
["ABCA7",1424,"Pro",1803,"ABCA4(ENST00000370225):Pro1567Leu"]
["ABCA7",1432,"Leu",1812,"ABCA4(ENST00000370225):Leu1576Arg"]
["ABCA7",1439,"Leu",1819,"ABCA4(ENST00000370225):Leu1583Pro"]
["ABCA7",1448,"Gly",1828,"ABCA4(ENST00000370225):Gly1592Asp"]
["ABCA7",1469,"Asp",1849,"ABCA4(ENST00000370225):Asp1613Asn"]
["ABCA7",1474,"Trp",1854,"ABCA4(ENST00000370225):Trp1618Cys;ABCA4(ENST00000370225):Trp1618Arg"]
["ABCA7",1475,"Phe",1855,"ABCA4(ENST00000370225):Phe1619Leu"]
["ABCA7",1479,"Gly",1859,"ABCA4(ENST00000370225):Gly1623Val;ABCA4(ENST00000370225):Gly1623Arg;ABCA4(ENST00000370225):Gly1623Ser"]
["ABCA7",1481,"His",1861,"ABCA4(ENST00000370225):His1625Gln;ABCA4(ENST00000370225):His1625Tyr;ABCA1(ENST00000374736):His1600Arg"]
["ABCA7",1492,"Asn",1872,"ABCA1(ENST00000374736):Asn1611Asp"]
["ABCA7",1493,"Ala",1873,"ABCA4(ENST00000370225):Ala1637Thr"]
["ABCA7",1496,"Arg",1876,"ABCA4(ENST00000370225):Arg1640Gln;ABCA4(ENST00000370225):Arg1640Trp;ABCA1(ENST00000374736):Arg1615Pro;ABCA1(ENST00000374736):Arg1615Trp"]
["ABCA7",1516,"Pro",1897,"ABCA4(ENST00000370225):Pro1660Leu;ABCA4(ENST00000370225):Pro1660Ser"]
["ABCA7",1523,"Gln",1904,"ABCA4(ENST00000370225):Gln1667Lys"]
["ABCA7",1541,"Cys",1922,"ABCA1(ENST00000374736):Cys1660Arg"]
["ABCA7",1542,"Val",1923,"ABCA4(ENST00000370225):Val1686Met"]
["ABCA7",1549,"Val",1930,"ABCA4(ENST00000370225):Val1693Ile"]
["ABCA7",1551,"Ala",1932,"ABCA4(ENST00000370225):Ala1695Asp"]
["ABCA7",1552,"Ser",1933,"ABCA4(ENST00000370225):Ser1696Arg;ABCA4(ENST00000370225):Ser1696Asn"]
["ABCA7",1561,"Arg",1942,"ABCA4(ENST00000370225):Arg1705Leu;ABCA4(ENST00000370225):Arg1705Gln;ABCA4(ENST00000370225):Arg1705Trp;ABCA1(ENST00000374736):Arg1680Trp"]
["ABCA7",1566,"Lys",1947,"ABCA4(ENST00000370225):Lys1710Gln"]
["ABCA7",1569,"Gln",1950,"ABCA4(ENST00000370225):Gln1713Arg;ABCA4(ENST00000370225):Gln1713Lys"]
["ABCA7",1580,"Trp",1961,"ABCA4(ENST00000370225):Trp1724Cys;ABCA1(ENST00000374736):Trp1699Cys"]
["ABCA7",1585,"Leu",1966,"ABCA4(ENST00000370225):Leu1729Pro"]
["ABCA7",1610,"Tyr",1991,"ABCA4(ENST00000370225):Tyr1754Asp"]
["ABCA7",1617,"Pro",1998,"ABCA4(ENST00000370225):Pro1761Arg"]
["ABCA7",1618,"Ala",1999,"ABCA4(ENST00000370225):Ala1762Asp"]
["ABCA7",1619,"Leu",2000,"ABCA4(ENST00000370225):Leu1763Pro"]
["ABCA7",1623,"Leu",2004,"ABCA4(ENST00000370225):Leu1767Pro"]
["ABCA7",1626,"Tyr",2007,"ABCA4(ENST00000370225):Tyr1770Asp"]
["ABCA7",1627,"Gly",2008,"ABCA4(ENST00000370225):Gly1771Arg"]
["ABCA7",1630,"Ile",2011,"ABCA1(ENST00000374736):Ile1749Val"]
["ABCA7",1632,"Pro",2013,"ABCA4(ENST00000370225):Pro1776Leu"]
["ABCA7",1634,"Met",2015,"ABCA4(ENST00000370225):Met1778Lys;ABCA4(ENST00000370225):Met1778Leu"]
["ABCA7",1635,"Tyr",2016,"ABCA4(ENST00000370225):Tyr1779His"]
["ABCA7",1636,"Pro",2017,"ABCA4(ENST00000370225):Pro1780Ala"]
["ABCA7",1637,"Ala",2018,"ABCA4(ENST00000370225):Ala1781Glu"]
["ABCA7",1644,"Pro",2025,"ABCA4(ENST00000370225):Pro1788Leu"]
["ABCA7",1645,"Ser",2026,"ABCA4(ENST00000370225):Ser1789Arg"]
["ABCA7",1648,"Tyr",2029,"ABCA1(ENST00000374736):Tyr1767Cys;ABCA1(ENST00000374736):Tyr1767Asp"]
["ABCA7",1651,"Leu",2032,"ABCA4(ENST00000370225):Leu1795Ser"]
["ABCA7",1655,"Asn",2036,"ABCA4(ENST00000370225):Asn1799Asp"]
["ABCA7",1661,"Asn",2042,"ABCA4(ENST00000370225):Asn1805Asp"]
["ABCA7",1692,"Pro",2074,"ABCA4(ENST00000370225):Pro1837Thr"]
["ABCA7",1693,"His",2075,"ABCA4(ENST00000370225):His1838Arg;ABCA4(ENST00000370225):His1838Tyr;ABCA4(ENST00000370225):His1838Asp;ABCA4(ENST00000370225):His1838Asn"]
["ABCA7",1694,"Phe",2076,"ABCA4(ENST00000370225):Phe1839Ser"]
["ABCA7",1698,"Arg",2080,"ABCA4(ENST00000370225):Arg1843Trp"]
["ABCA7",1699,"Gly",2081,"ABCA4(ENST00000370225):Gly1844Asp;ABCA4(ENST00000370225):Gly1844Cys"]
["ABCA7",1701,"Ile",2083,"ABCA4(ENST00000370225):Ile1846Thr"]
["ABCA7",1708,"Ala",2090,"ABCA4(ENST00000370225):Ala1853Asp"]
["ABCA7",1715,"Arg",2097,"ABCA4(ENST00000370225):Arg1860Trp"]
["ABCA7",1717,"Gly",2099,"ABCA4(ENST00000370225):Gly1862Arg"]
["ABCA7",1724,"Pro",2107,"ABCA4(ENST00000370225):Pro1869Leu"]
["ABCA7",1736,"Ala",2119,"ABCA4(ENST00000370225):Ala1881Gly"]
["ABCA7",1737,"Met",2120,"ABCA4(ENST00000370225):Met1882Ile;ABCA4(ENST00000370225):Met1882Thr;ABCA4(ENST00000370225):Met1882Val"]
["ABCA7",1741,"Gly",2124,"ABCA4(ENST00000370225):Gly1886Glu;ABCA4(ENST00000370225):Gly1886Arg"]
["ABCA7",1773,"Asp",2156,"ABCA4(ENST00000370225):Asp1918Val"]
["ABCA7",1776,"Val",2159,"ABCA4(ENST00000370225):Val1921Gly;ABCA4(ENST00000370225):Val1921Met"]
["ABCA7",1780,"Arg",2163,"ABCA4(ENST00000370225):Arg1925Gly"]
["ABCA7",1782,"Arg",2165,"ABCA1(ENST00000374736):Arg1901Ser"]
["ABCA7",1795,"Leu",2178,"ABCA4(ENST00000370225):Leu1940Pro"]
["ABCA7",1798,"Leu",2181,"ABCA4(ENST00000370225):Leu1943Pro"]
["ABCA7",1806,"Arg",2192,"ABCA1(ENST00000374736):Arg1925Gln"]
["ABCA7",1816,"Gly",2202,"ABCA4(ENST00000370225):Gly1961Ala;ABCA4(ENST00000370225):Gly1961Glu;ABCA4(ENST00000370225):Gly1961Arg"]
["ABCA7",1822,"Cys",2208,"ABCA1(ENST00000374736):Cys1941Arg"]
["ABCA7",1825,"Leu",2211,"ABCA4(ENST00000370225):Leu1970Pro;ABCA4(ENST00000370225):Leu1970Phe"]
["ABCA7",1826,"Leu",2212,"ABCA4(ENST00000370225):Leu1971Arg"]
["ABCA7",1827,"Gly",2213,"ABCA4(ENST00000370225):Gly1972Arg"]
["ABCA7",1829,"Asn",2215,"ABCA4(ENST00000370225):Asn1974Ser;ABCA1(ENST00000374736):Asn1948Ser"]
["ABCA7",1830,"Gly",2216,"ABCA4(ENST00000370225):Gly1975Arg"]
["ABCA7",1832,"Gly",2218,"ABCA4(ENST00000370225):Gly1977Ser"]
["ABCA7",1833,"Lys",2219,"ABCA4(ENST00000370225):Lys1978Glu"]
["ABCA7",1834,"Thr",2220,"ABCA4(ENST00000370225):Thr1979Ile"]
["ABCA7",1836,"Thr",2222,"ABCA4(ENST00000370225):Thr1981Arg"]
["ABCA7",1872,"Cys",2258,"ABCA4(ENST00000370225):Cys2017Tyr"]
["ABCA7",1878,"Ile",2264,"ABCA4(ENST00000370225):Ile2023Thr"]
["ABCA7",1881,"Leu",2267,"ABCA4(ENST00000370225):Leu2026Pro"]
["ABCA7",1882,"Leu",2268,"ABCA4(ENST00000370225):Leu2027Phe"]
["ABCA7",1885,"Arg",2271,"ABCA4(ENST00000370225):Arg2030Gln"]
["ABCA7",1887,"His",2273,"ABCA4(ENST00000370225):His2032Arg"]
["ABCA7",1888,"Leu",2274,"ABCA4(ENST00000370225):Leu2033Arg;ABCA4(ENST00000370225):Leu2033Pro;ABCA4(ENST00000370225):Leu2033His"]
["ABCA7",1890,"Leu",2276,"ABCA4(ENST00000370225):Leu2035Pro"]
["ABCA7",1892,"Ala",2278,"ABCA4(ENST00000370225):Ala2037Asp"]
["ABCA7",1893,"Arg",2279,"ABCA4(ENST00000370225):Arg2038Trp"]
["ABCA7",1895,"Arg",2281,"ABCA4(ENST00000370225):Arg2040Gln"]
["ABCA7",1896,"Gly",2282,"ABCA4(ENST00000370225):Gly2041Asp"]
["ABCA7",1897,"Val",2283,"ABCA4(ENST00000370225):Val2042Gly"]
["ABCA7",1898,"Pro",2284,"ABCA4(ENST00000370225):Pro2043Ser"]
["ABCA7",1913,"Leu",2299,"ABCA4(ENST00000370225):Leu2058Arg"]
["ABCA7",1915,"Leu",2301,"ABCA4(ENST00000370225):Leu2060Arg"]
["ABCA7",1919,"Ala",2305,"ABCA4(ENST00000370225):Ala2064Val;ABCA4(ENST00000370225):Ala2064Pro;ABCA4(ENST00000370225):Ala2064Thr"]
["ABCA7",1925,"Thr",2311,"ABCA4(ENST00000370225):Thr2070Arg"]
["ABCA7",1926,"Tyr",2312,"ABCA4(ENST00000370225):Tyr2071Phe"]
["ABCA7",1927,"Ser",2313,"ABCA4(ENST00000370225):Ser2072Asn;ABCA1(ENST00000374736):Ser2046Asn"]
["ABCA7",1929,"Gly",2315,"ABCA4(ENST00000370225):Gly2074Val;ABCA4(ENST00000370225):Gly2074Asp;ABCA4(ENST00000370225):Gly2074Ser"]
["ABCA7",1931,"Lys",2317,"ABCA4(ENST00000370225):Lys2076Glu"]
["ABCA7",1932,"Arg",2318,"ABCA4(ENST00000370225):Arg2077Gln;ABCA4(ENST00000370225):Arg2077Trp;ABCA4(ENST00000370225):Arg2077Gly"]
["ABCA7",1933,"Lys",2319,"ABCA4(ENST00000370225):Lys2078Glu;ABCA4(ENST00000370225):Lys2078Gln"]
["ABCA7",1939,"Ala",2325,"ABCA4(ENST00000370225):Ala2084Pro;ABCA4(ENST00000370225):Ala2084Thr"]
["ABCA7",1950,"Asp",2336,"ABCA4(ENST00000370225):Asp2095Val;ABCA4(ENST00000370225):Asp2095Gly"]
["ABCA7",1951,"Glu",2337,"ABCA4(ENST00000370225):Glu2096Val;ABCA4(ENST00000370225):Glu2096Gly;ABCA4(ENST00000370225):Glu2096Lys"]
["ABCA7",1952,"Pro",2338,"ABCA4(ENST00000370225):Pro2097Ser"]
["ABCA7",1957,"Asp",2343,"ABCA4(ENST00000370225):Asp2102Glu"]
["ABCA7",1958,"Pro",2344,"ABCA1(ENST00000374736):Pro2077His"]
["ABCA7",1961,"Arg",2347,"ABCA4(ENST00000370225):Arg2106Pro;ABCA4(ENST00000370225):Arg2106His;ABCA4(ENST00000370225):Arg2106Cys;ABCA1(ENST00000374736):Arg2080Gln"]
["ABCA7",1962,"Arg",2348,"ABCA4(ENST00000370225):Arg2107Pro;ABCA4(ENST00000370225):Arg2107His;ABCA4(ENST00000370225):Arg2107Cys;ABCA1(ENST00000374736):Arg2081Trp"]
["ABCA7",1964,"Leu",2350,"ABCA4(ENST00000370225):Leu2109Pro"]
["ABCA7",1983,"His",2369,"ABCA4(ENST00000370225):His2128Arg"]
["ABCA7",1984,"Ser",2370,"ABCA4(ENST00000370225):Ser2129Gly"]
["ABCA7",1985,"Met",2371,"ABCA4(ENST00000370225):Met2130Thr;ABCA4(ENST00000370225):Met2130Lys"]
["ABCA7",1986,"Glu",2372,"ABCA4(ENST00000370225):Glu2131Lys"]
["ABCA7",1987,"Glu",2373,"ABCA4(ENST00000370225):Glu2132Lys"]
["ABCA7",1988,"Cys",2374,"ABCA1(ENST00000374736):Cys2107Arg"]
["ABCA7",1992,"Cys",2378,"ABCA4(ENST00000370225):Cys2137Tyr"]
["ABCA7",1994,"Arg",2380,"ABCA4(ENST00000370225):Arg2139Pro;ABCA4(ENST00000370225):Arg2139Trp"]
["ABCA7",1995,"Leu",2381,"ABCA4(ENST00000370225):Leu2140Arg;ABCA4(ENST00000370225):Leu2140Gln"]
["ABCA7",1998,"Met",2384,"ABCA4(ENST00000370225):Met2143Arg"]
["ABCA7",2001,"Gly",2387,"ABCA4(ENST00000370225):Gly2146Asp"]
["ABCA7",2004,"Arg",2390,"ABCA4(ENST00000370225):Arg2149Leu"]
["ABCA7",2005,"Cys",2391,"ABCA4(ENST00000370225):Cys2150Tyr;ABCA4(ENST00000370225):Cys2150Arg"]
["ABCA7",2007,"Gly",2393,"ABCA4(ENST00000370225):Gly2152Val;ABCA4(ENST00000370225):Gly2152Cys;ABCA4(ENST00000370225):Gly2152Ser"]
["ABCA7",2037,"Phe",2429,"ABCA4(ENST00000370225):Phe2188Ser"]
["ABCA7",2068,"Ala",2460,"ABCA4(ENST00000370225):Ala2216Val"]
["ABCA7",2084,"Glu",2476,"ABCA4(ENST00000370225):Glu2232Lys"]
["ABCA7",2090,"Gln",2482,"ABCA4(ENST00000370225):Gln2238Arg"]
["ABCA7",2093,"Leu",2485,"ABCA4(ENST00000370225):Leu2241Pro;ABCA4(ENST00000370225):Leu2241Val"]
["ABCB1",9,"Gly",19,"ABCB11(ENST00000263817):Gly19Arg"]
["ABCB1",23,"Ser",37,"ABCB4(ENST00000265723):Ser27Gly"]
["ABCB1",41,"Arg",57,"ABCB11(ENST00000263817):Arg52Trp;ABCB4(ENST00000265723):Arg47Gln;ABCB4(ENST00000265723):Arg47Gly"]
["ABCB1",51,"Met",67,"ABCB11(ENST00000263817):Met62Lys"]
["ABCB1",62,"Gly",78,"ABCB4(ENST00000265723):Gly68Arg"]
["ABCB1",65,"Leu",81,"ABCB4(ENST00000265723):Leu71His"]
["ABCB1",66,"Pro",82,"ABCB11(ENST00000263817):Pro77Ala"]
["ABCB1",72,"Phe",88,"ABCB4(ENST00000265723):Phe78Cys"]
["ABCB1",76,"Thr",92,"ABCB4(ENST00000265723):Thr82Asn"]
["ABCB1",108,"Glu",140,"ABCB11(ENST00000263817):Glu135Lys"]
["ABCB1",122,"Gly",154,"ABCB4(ENST00000265723):Gly124Ser"]
["ABCB1",124,"Gly",156,"ABCB4(ENST00000265723):Gly126Glu"]
["ABCB1",130,"Tyr",162,"ABCB11(ENST00000263817):Tyr157Cys"]
["ABCB1",136,"Trp",168,"ABCB4(ENST00000265723):Trp138Arg"]
["ABCB1",140,"Ala",172,"ABCB11(ENST00000263817):Ala167Val;ABCB11(ENST00000263817):Ala167Thr"]
["ABCB1",148,"Arg",180,"ABCB4(ENST00000265723):Arg150Lys"]
["ABCB1",152,"Phe",184,"ABCB4(ENST00000265723):Phe154Ser"]
["ABCB1",155,"Ile",187,"ABCB11(ENST00000263817):Ile182Lys"]
["ABCB1",156,"Met",188,"ABCB11(ENST00000263817):Met183Thr;ABCB11(ENST00000263817):Met183Val"]
["ABCB1",159,"Glu",191,"ABCB11(ENST00000263817):Glu186Gly"]
["ABCB1",161,"Gly",193,"ABCB11(ENST00000263817):Gly188Trp"]
["ABCB1",163,"Phe",195,"ABCB4(ENST00000265723):Phe165Ile"]
["ABCB1",171,"Leu",203,"ABCB11(ENST00000263817):Leu198Pro"]
["ABCB1",174,"Arg",206,"ABCB4(ENST00000265723):Arg176Trp"]
["ABCB1",199,"Thr",231,"ABCB4(ENST00000265723):Thr201Met"]
["ABCB1",211,"Gly",243,"ABCB11(ENST00000263817):Gly238Val"]
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["ABCB5",1147,"Thr",1225,"ABCB11(ENST00000263817):Thr1210Pro"]
["ABCB5",1149,"Val",1227,"ABCB11(ENST00000263817):Val1212Phe"]
["ABCB5",1157,"Ser",1235,"ABCB4(ENST00000265723):Ser1183Leu"]
["ABCB5",1159,"Gly",1237,"ABCB4(ENST00000265723):Gly1185Ser"]
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["ABCB5",1176,"Ile",1254,"ABCB1(ENST00000265724):Ile1196Ser"]
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["ABCC1",40,"Trp",42,"ABCC6(ENST00000205557):Trp38Ser"]
["ABCC1",42,"Pro",44,"ABCC6(ENST00000205557):Pro40Ser"]
["ABCC1",46,"Leu",48,"ABCC6(ENST00000205557):Leu44Val"]
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["ABCC1",209,"Pro",228,"CFTR(ENST00000003084):Pro5Leu"]
["ABCC1",214,"Ser",233,"CFTR(ENST00000003084):Ser10Arg"]
["ABCC1",217,"Ser",236,"CFTR(ENST00000003084):Ser13Phe"]
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["ABCC12",503,"Val",781,"ABCC6(ENST00000205557):Val653Glu"]
["ABCC12",683,"Gly",966,"CFTR(ENST00000003084):Gly628Arg"]
["ABCC12",1172,"Glu",1634,"ABCC2(ENST00000370449):Glu1352Gln"]
["ABCC12",1269,"Arg",1731,"ABCC6(ENST00000205557):Arg1414His;ABCC6(ENST00000205557):Arg1414Cys;CFTR(ENST00000003084):Arg1358Ser"]
["ABCC2",581,"Thr",622,"CFTR(ENST00000003084):Thr338Ala;CFTR(ENST00000003084):Thr338Ile"]
["ABCC2",730,"Tyr",853,"CFTR(ENST00000003084):Tyr517Cys"]
["ABCC2",1028,"Gly",1288,"ABCC6(ENST00000205557):Gly992Arg"]
["ABCC2",1298,"Gly",1580,"ABCC6(ENST00000205557):Gly1263Arg;CFTR(ENST00000003084):Gly1208Asp"]
["ABCC2",1462,"Glu",1744,"ABCC6(ENST00000205557):Glu1427Lys"]
["ABCC3",521,"Glu",573,"ABCC6(ENST00000205557):Glu521Asp;CFTR(ENST00000003084):Glu292Lys"]
["ABCC3",642,"Pro",770,"CFTR(ENST00000003084):Pro439Ser;CFTR(ENST00000003084):Pro439Arg"]
["ABCC3",827,"Gly",960,"CFTR(ENST00000003084):Gly622Asp"]
["ABCC3",1050,"His",1322,"CFTR(ENST00000003084):His954Pro"]
["ABCC3",1371,"Gln",1664,"ABCC2(ENST00000370449):Gln1382Arg;ABCC6(ENST00000205557):Gln1347His;CFTR(ENST00000003084):Gln1291Arg;CFTR(ENST00000003084):Gln1291His"]
["ABCC4",176,"Arg",443,"ABCC6(ENST00000205557):Arg391Gly"]
["ABCC4",426,"Pro",770,"CFTR(ENST00000003084):Pro439Ser;CFTR(ENST00000003084):Pro439Arg"]
["ABCC4",539,"Gln",888,"CFTR(ENST00000003084):Gln552Lys"]
["ABCC4",574,"Phe",923,"CFTR(ENST00000003084):Phe587Ile;CFTR(ENST00000003084):Phe587Ser"]
["ABCC4",977,"Gly",1498,"CFTR(ENST00000003084):Gly1127Glu"]
["ABCC4",1075,"Gly",1616,"ABCC6(ENST00000205557):Gly1299Ser;CFTR(ENST00000003084):Gly1244Arg;CFTR(ENST00000003084):Gly1244Glu;CFTR(ENST00000003084):Gly1244Val"]
["ABCC5",274,"Gly",459,"ABCC6(ENST00000205557):Gly407Asp;CFTR(ENST00000003084):Gly178Arg;CFTR(ENST00000003084):Gly178Glu"]
["ABCC5",657,"Val",856,"CFTR(ENST00000003084):Val520Ile;CFTR(ENST00000003084):Val520Phe;CFTR(ENST00000003084):Val520Asp"]
["ABCC5",696,"Ala",895,"CFTR(ENST00000003084):Ala559Thr;CFTR(ENST00000003084):Ala559Pro;CFTR(ENST00000003084):Ala559Glu;CFTR(ENST00000003084):Ala559Val"]
["ABCC5",1008,"Ala",1377,"CFTR(ENST00000003084):Ala1009Thr"]
["ABCC5",1243,"Leu",1632,"CFTR(ENST00000003084):Leu1260Arg"]
["ABCC6",506,"Trp",558,"CFTR(ENST00000003084):Trp277Arg"]
["ABCC6",811,"Thr",942,"CFTR(ENST00000003084):Thr604Ser;CFTR(ENST00000003084):Thr604Ile"]
["ABCC6",1093,"Pro",1389,"CFTR(ENST00000003084):Pro1021Thr;CFTR(ENST00000003084):Pro1021Ala;CFTR(ENST00000003084):Pro1021Ser;CFTR(ENST00000003084):Pro1021Leu"]
["ABCC8",1183,"Arg",1184,"ABCC9(ENST00000261200):Arg1154Gln;ABCC9(ENST00000261200):Arg1154Trp;ABCC9(ENST00000261200):Arg1154Gly"]
["ABCC9",7,"Gly",7,"ABCC8(ENST00000389817):Gly7Arg"]
["ABCC9",385,"Gly",389,"ABCC8(ENST00000389817):Gly389Arg"]
["ABCC9",712,"Ser",721,"ABCC8(ENST00000389817):Ser720Phe"]
["ABCG2",174,"Ala",232,"ABCG1(ENST00000361802):Ala210Thr"]
["ACAD8",206,"Arg",268,"GCDH(ENST00000222214):Arg227Pro"]
["ACAD8",277,"Arg",344,"ACADS(ENST00000242592):Arg272His;IVD(ENST00000487418):Arg287Gln;GCDH(ENST00000222214):Arg294Trp;GCDH(ENST00000222214):Arg294Gln;GCDH(ENST00000222214):Arg294Pro"]
["ACAD9",244,"Ala",308,"ACADVL(ENST00000543245):Ala304Asp"]
["ACAD9",403,"Gly",467,"ACADVL(ENST00000543245):Gly462Asp"]
["ACADL",253,"Leu",304,"ACADSB(ENST00000358776):Leu255Phe"]
["ACADM",231,"Ala",260,"ACADS(ENST00000242592):Ala192Val;GCDH(ENST00000222214):Ala219Thr"]
["ACADM",263,"Gly",292,"IVD(ENST00000487418):Gly236Ser;GCDH(ENST00000222214):Gly244Ser;GCDH(ENST00000222214):Gly244Cys;GCDH(ENST00000222214):Gly244Val"]
["ACADS",272,"Arg",344,"IVD(ENST00000487418):Arg287Gln;GCDH(ENST00000222214):Arg294Trp;GCDH(ENST00000222214):Arg294Gln;GCDH(ENST00000222214):Arg294Pro"]
["ACADS",311,"Gln",383,"GCDH(ENST00000222214):Gln333Glu"]
["ACADSB",319,"Arg",369,"ACAD8(ENST00000281182):Arg302Gln"]
["ACADSB",386,"Ile",437,"IVD(ENST00000487418):Ile379Thr"]
["ACOX2",325,"Gln",355,"ACOX1(ENST00000293217):Gln309Arg"]
["ACTA1",91,"Thr",93,"ACTG1(ENST00000575842):Thr89Ile"]
["ACTA1",135,"Tyr",138,"ACTA2(ENST00000458208):Tyr135His;ACTG2(ENST00000409624):Tyr134Asn"]
["ACTA1",211,"Val",214,"ACTB(ENST00000331789):Val209Leu;ACTB(ENST00000331789):Val209Met"]
["ACTA1",334,"Pro",337,"ACTG1(ENST00000575842):Pro332Ser;ACTG1(ENST00000575842):Pro332Ala"]
["ACTA2",89,"His",91,"ACTB(ENST00000331789):His87Asp"]
["ACTA2",138,"Ile",141,"ACTA1(ENST00000366684):Ile138Met;ACTA1(ENST00000366684):Ile138Thr;ACTA1(ENST00000366684):Ile138Asn"]
["ACTA2",232,"Ala",235,"ACTA1(ENST00000366684):Ala232Val;ACTC1(ENST00000290378):Ala232Val;ACTC1(ENST00000290378):Ala232Thr"]
["ACTA2",288,"Asp",291,"ACTA1(ENST00000366684):Asp288Gly"]
["ACTB",19,"Ala",23,"ACTC1(ENST00000290378):Ala21Val"]
["ACTB",123,"Met",128,"ACTC1(ENST00000290378):Met125Val"]
["ACTB",184,"Asp",189,"ACTA1(ENST00000366684):Asp186Gly"]
["ACTB",264,"Pro",269,"ACTA1(ENST00000366684):Pro266Thr;ACTG1(ENST00000575842):Pro264Leu"]
["ACTBL2",13,"Asn",16,"ACTG1(ENST00000575842):Asn12Asp;ACTB(ENST00000331789):Asn12Asp;ACTB(ENST00000331789):Asn12His"]
["ACTBL2",59,"Ala",62,"ACTG1(ENST00000575842):Ala58Val"]
["ACTBL2",161,"Thr",165,"ACTB(ENST00000331789):Thr160Ile"]
["ACTBL2",208,"Glu",212,"ACTA1(ENST00000366684):Glu209Asp"]
["ACTBL2",301,"Ser",305,"ACTA2(ENST00000458208):Ser302Ala"]
["ACTC1",9,"Ala",11,"ACTB(ENST00000331789):Ala7Thr"]
["ACTC1",84,"Met",86,"ACTG1(ENST00000575842):Met82Leu"]
["ACTC1",193,"Lys",196,"ACTA1(ENST00000366684):Lys193Asn"]
["ACTC1",212,"Arg",215,"ACTA2(ENST00000458208):Arg212Gln;ACTG1(ENST00000575842):Arg210His;ACTG1(ENST00000575842):Arg210Cys;ACTG2(ENST00000409624):Arg211Gln;ACTB(ENST00000331789):Arg210His"]
["ACTC1",358,"Trp",361,"ACTA1(ENST00000366684):Trp358Cys"]
["ACTG1",19,"Ala",23,"ACTC1(ENST00000290378):Ala21Val"]
["ACTG1",137,"Gln",142,"ACTA1(ENST00000366684):Gln139His"]
["ACTG1",161,"His",166,"ACTA1(ENST00000366684):His163Asp;ACTA2(ENST00000458208):His163Gln"]
["ACTG1",237,"Glu",242,"ACTA1(ENST00000366684):Glu239Lys;ACTC1(ENST00000290378):Glu239Gln"]
["ACTG2",26,"Asp",29,"ACTA1(ENST00000366684):Asp27Asn"]
["ACTG2",59,"Ala",62,"ACTG1(ENST00000575842):Ala58Val"]
["ACTG2",155,"Asp",159,"ACTA1(ENST00000366684):Asp156Asn"]
["ACTG2",184,"Arg",188,"ACTA1(ENST00000366684):Arg185Leu;ACTA1(ENST00000366684):Arg185Cys;ACTA1(ENST00000366684):Arg185Gly;ACTA1(ENST00000366684):Arg185Ser;ACTA2(ENST00000458208):Arg185Gln;ACTC1(ENST00000290378):Arg185Trp;ACTB(ENST00000331789):Arg183Trp"]
["ACTG2",281,"Asn",285,"ACTA1(ENST00000366684):Asn282Lys"]
["ACTG2",327,"Lys",331,"ACTA1(ENST00000366684):Lys328Asn;ACTA2(ENST00000458208):Lys328Asn"]
["ACTN2",27,"Asp",53,"ACTN1(ENST00000394419):Asp20Asn"]
["ACTN3",181,"Leu",181,"ACTN2(ENST00000366578):Leu131Pro"]
["ACTN4",123,"Gly",161,"ACTN2(ENST00000366578):Gly111Val"]
["ACTR1A",86,"Met",86,"ACTC1(ENST00000290378):Met84Thr;ACTG1(ENST00000575842):Met82Leu"]
["ACTR1A",148,"Tyr",148,"ACTA2(ENST00000458208):Tyr145Cys"]
["ACTR1A",312,"Asp",316,"ACTC1(ENST00000290378):Asp313His"]
["ACTR1B",16,"Asn",16,"ACTG1(ENST00000575842):Asn12Asp;ACTB(ENST00000331789):Asn12Asp;ACTB(ENST00000331789):Asn12His"]
["ACTR1B",163,"Gly",163,"ACTA1(ENST00000366684):Gly160Cys;ACTA2(ENST00000458208):Gly160Asp"]
["ACTR1B",330,"Ile",334,"ACTC1(ENST00000290378):Ile331Asn"]
["ACTRT1",119,"Arg",121,"ACTA1(ENST00000366684):Arg118His;ACTA2(ENST00000458208):Arg118Gln"]
["ACTRT1",224,"Leu",226,"ACTA1(ENST00000366684):Leu223Pro"]
["ACTRT1",287,"Asp",291,"ACTA1(ENST00000366684):Asp288Gly"]
["ACTRT2",110,"Thr",111,"ACTA2(ENST00000458208):Thr108Met"]
["ACTRT2",351,"Leu",354,"ACTG1(ENST00000575842):Leu349Met"]
["ACTRT3",73,"Gly",78,"ACTA1(ENST00000366684):Gly76Asp;ACTA2(ENST00000458208):Gly76Ser;ACTB(ENST00000331789):Gly74Ser"]
["ACTRT3",241,"Asp",249,"ACTA1(ENST00000366684):Asp246Glu"]
["ACTRT3",328,"Ala",336,"ACTC1(ENST00000290378):Ala333Val;ACTC1(ENST00000290378):Ala333Pro"]
["ACVR1",206,"Arg",295,"ACVRL1(ENST00000388922):Arg200Gly;ACVRL1(ENST00000388922):Arg200Trp"]
["ACVR1",313,"Ala",450,"TGFBR2(ENST00000359013):Ala380Pro"]
["ACVR1",439,"Pro",591,"ACVRL1(ENST00000388922):Pro433Ser;ACVRL1(ENST00000388922):Pro433Arg;AMHR2(ENST00000257863):Pro448Arg"]
["ACVR1B",217,"Arg",307,"ACVRL1(ENST00000388922):Arg212Leu;TGFBR2(ENST00000359013):Arg279His;BMPR1B(ENST00000440890):Arg244Ser;BMPR1B(ENST00000440890):Arg244Cys"]
["ACVR1B",352,"Ala",449,"BMPR1A(ENST00000372037):Ala338Asp;ACVRL1(ENST00000388922):Ala306Pro;ACVRL1(ENST00000388922):Ala306Glu"]
["ACVR1B",518,"Trp",631,"TGFBR2(ENST00000359013):Trp546Arg"]
["ACVR1B",533,"Lys",646,"ACVRL1(ENST00000388922):Lys487Thr"]
["ACVR1C",306,"Leu",456,"ACVRL1(ENST00000388922):Leu313Val;ACVRL1(ENST00000388922):Leu313Pro"]
["ACVR1C",386,"Phe",548,"TGFBR2(ENST00000359013):Phe467Leu"]
["ACVR2A",104,"Cys",176,"BMPR1A(ENST00000372037):Cys125Gly;ACVRL1(ENST00000388922):Cys90Tyr;ACVRL1(ENST00000388922):Cys90Trp"]
["ACVR2A",369,"Glu",533,"BMPR1A(ENST00000372037):Glu411Lys;ACVRL1(ENST00000388922):Glu379Lys;ACVRL1(ENST00000388922):Glu379Asp"]
["ACVR2B",171,"Asp",274,"ACVRL1(ENST00000388922):Asp179Ala"]
["ACVR2B",310,"Gly",465,"AMHR2(ENST00000257863):Gly323Ser;ACVR1(ENST00000263640):Gly328Val;ACVR1(ENST00000263640):Gly328Glu;ACVR1(ENST00000263640):Gly328Trp;ACVR1(ENST00000263640):Gly328Arg"]
["ACVR2B",391,"Leu",558,"ACVRL1(ENST00000388922):Leu403Pro"]
["ACVRL1",252,"Arg",353,"BMPR1A(ENST00000372037):Arg284Leu;ACVR1(ENST00000263640):Arg258Ser;ACVR1(ENST00000263640):Arg258Met;ACVR1(ENST00000263640):Arg258Gly"]
["ADAM17",354,"Gly",365,"ADAM10(ENST00000260408):Gly334Arg"]
["ADAMTS14",854,"Trp",1083,"ADAMTS10(ENST00000270328):Trp829Arg"]
["ADAMTS2",178,"Leu",288,"ADAMTS3(ENST00000286657):Leu168Pro"]
["ADAMTS3",849,"Trp",1083,"ADAMTS10(ENST00000270328):Trp829Arg"]
["ADCY3",1073,"Arg",1310,"ADCY6(ENST00000307885):Arg1116Cys"]
["ADCYAP1R1",189,"His",323,"PTH1R(ENST00000313049):His223Arg;GHRHR(ENST00000326139):His165Gln"]
["AIP",54,"Arg",54,"AIPL1(ENST00000381129):Arg53Trp"]
["AKR1B10",44,"Asp",72,"AKR1D1(ENST00000242375):Asp53Gly"]
["AKR1B15",284,"Arg",305,"AKR1D1(ENST00000242375):Arg266Gln"]
["AKR1C4",130,"Pro",172,"AKR1D1(ENST00000242375):Pro133Arg"]
["AKT2",233,"Asn",295,"AKT3(ENST00000366539):Asn229Ser"]
["ALDH1A2",180,"Cys",200,"ALDH1A3(ENST00000329841):Cys174Tyr"]
["ALDH1B1",179,"Cys",200,"ALDH1A3(ENST00000329841):Cys174Tyr"]
["ALDH1B1",388,"Gly",413,"ALDH7A1(ENST00000409134):Gly399Arg"]
["ALDH6A1",490,"Ser",531,"ALDH5A1(ENST00000348925):Ser523Phe"]
["ALDOA",232,"Cys",232,"ALDOB(ENST00000374855):Cys178Arg"]
["ALOX12",582,"Pro",779,"ALOX12B(ENST00000319144):Pro620Gln;ALOXE3(ENST00000318227):Pro762Leu"]
["ALOX15B",196,"Lys",373,"ALOX12B(ENST00000319144):Lys222Ile"]
["ALOX5",368,"His",554,"ALOX12B(ENST00000319144):His398Tyr"]
["ALPI",69,"Thr",73,"ALPL(ENST00000374840):Thr68Met"]
["ALPI",168,"Thr",172,"ALPL(ENST00000374840):Thr167Met"]
["ALPI",425,"Arg",435,"ALPL(ENST00000374840):Arg428Pro"]
["ALPP",34,"Trp",34,"ALPL(ENST00000374840):Trp29Arg"]
["ALPP",308,"Pro",314,"ALPL(ENST00000374840):Pro307Ser;ALPL(ENST00000374840):Pro307Leu"]
["ALPP",482,"His",489,"ALPL(ENST00000374840):His482Asn"]
["ALPPL2",185,"Arg",189,"ALPL(ENST00000374840):Arg184Trp"]
["ALPPL2",443,"Ala",453,"ALPL(ENST00000374840):Ala446Thr;ALPL(ENST00000374840):Ala446Gly"]
["AMHR2",286,"Ser",427,"ACVRL1(ENST00000388922):Ser284Phe"]
["AMHR2",409,"Asp",552,"ACVRL1(ENST00000388922):Asp397Asn;ACVRL1(ENST00000388922):Asp397Gly;TGFBR2(ENST00000359013):Asp471Asn;TGFBR2(ENST00000359013):Asp471His;TGFBR2(ENST00000359013):Asp471Val;TGFBR2(ENST00000359013):Asp471Glu"]
["AMHR2",489,"Asp",632,"TGFBR2(ENST00000359013):Asp547Asn"]
["ANGPT1",448,"Trp",517,"FGB(ENST00000302068):Trp433Leu"]
["ANGPTL1",184,"Asp",227,"FGB(ENST00000302068):Asp164Asn"]
["ANGPTL2",468,"Trp",551,"FGB(ENST00000302068):Trp467Gly"]
["ANO1",336,"Gly",471,"ANO3(ENST00000256737):Gly400Val"]
["ANO1",757,"Asn",906,"ANO5(ENST00000324559):Asn701Asp"]
["ANO3",307,"Arg",374,"ANO5(ENST00000324559):Arg215Gly"]
["ANO4",120,"Asp",178,"ANO5(ENST00000324559):Asp81Gly"]
["ANO6",289,"Leu",436,"ANO5(ENST00000324559):Leu273Phe"]
["ANO6",729,"Thr",919,"ANO5(ENST00000324559):Thr714Ser"]
["ANO9",239,"Leu",518,"ANO5(ENST00000324559):Leu355Phe"]
["ANTXRL",222,"Ile",226,"ANTXR2(ENST00000307333):Ile189Thr"]
["AQP1",115,"Ile",144,"AQP2(ENST00000199280):Ile107Asn"]
["AQP4",214,"Pro",222,"AQP2(ENST00000199280):Pro185Ala"]
["AQP6",38,"Val",54,"AQP2(ENST00000199280):Val24Ala"]
["AQP6",200,"Ser",225,"AQP2(ENST00000199280):Ser188Phe"]
["AR",860,"Leu",970,"NR3C2(ENST00000358102):Leu924Pro"]
["ARAF",451,"Phe",684,"BRAF(ENST00000288602):Phe595Leu;BRAF(ENST00000288602):Phe595Ser"]
["ARSA",80,"Thr",140,"GALNS(ENST00000268695):Thr88Ile"]
["ARSA",294,"Gly",425,"ARSB(ENST00000264914):Gly308Glu;ARSB(ENST00000264914):Gly308Arg"]
["ARSB",79,"Gly",118,"GALNS(ENST00000268695):Gly66Arg"]
["ARSB",467,"Pro",599,"ARSA(ENST00000216124):Pro427Ser;ARSA(ENST00000216124):Pro427Thr"]
["ARSD",28,"Leu",47,"ARSA(ENST00000216124):Leu13Gln"]
["ARSD",380,"Gly",444,"GALNS(ENST00000268695):Gly309Arg;ARSA(ENST00000216124):Gly303Arg"]
["ARSD",516,"Leu",611,"ARSA(ENST00000216124):Leu430Pro"]
["ARSE",172,"His",194,"GALNS(ENST00000268695):His142Gln;GALNS(ENST00000268695):His142Leu;GALNS(ENST00000268695):His142Arg;GALNS(ENST00000268695):His142Pro;GALNS(ENST00000268695):His142Asn;ARSB(ENST00000264914):His147Pro"]
["ARSE",290,"Pro",313,"ARSA(ENST00000216124):Pro193Thr"]
["ARSF",68,"Leu",121,"ARSB(ENST00000264914):Leu82Arg"]
["ARSF",295,"Pro",353,"ARSA(ENST00000216124):Pro233Thr"]
["ARSF",370,"Lys",445,"GALNS(ENST00000268695):Lys310Asn;ARSA(ENST00000216124):Lys304Asn;ARSA(ENST00000216124):Lys304Arg"]
["ARSG",80,"Ala",127,"GALNS(ENST00000268695):Ala75Gly"]
["ARSG",148,"Pro",209,"GALNS(ENST00000268695):Pro151Leu;GALNS(ENST00000268695):Pro151Arg;GALNS(ENST00000268695):Pro151Ser;GALNS(ENST00000268695):Pro151Thr;ARSA(ENST00000216124):Pro138Leu;ARSA(ENST00000216124):Pro138Ser;ARSA(ENST00000216124):Pro138Thr"]
["ARSG",468,"Leu",624,"GALNS(ENST00000268695):Leu454Pro"]
["ARSH",12,"Leu",88,"GALNS(ENST00000268695):Leu36Arg;GALNS(ENST00000268695):Leu36Pro"]
["ARSH",273,"Pro",353,"ARSA(ENST00000216124):Pro233Thr"]
["ARSH",431,"Leu",542,"GALNS(ENST00000268695):Leu390Pro"]
["ARSI",97,"Arg",135,"ARSB(ENST00000264914):Arg95Gln"]
["ARSI",299,"Gly",411,"GALNS(ENST00000268695):Gly290Arg;GALNS(ENST00000268695):Gly290Ser;ARSB(ENST00000264914):Gly302Arg"]
["ARSI",369,"Asp",500,"ARSA(ENST00000216124):Asp356Val"]
["ARSJ",164,"Leu",180,"ARSA(ENST00000216124):Leu113Pro"]
["ARSJ",379,"Asp",480,"GALNS(ENST00000268695):Asp344Glu;GALNS(ENST00000268695):Asp344Asn;ARSA(ENST00000216124):Asp337Val;ARSB(ENST00000264914):Asp352Asn"]
["ARSJ",495,"Leu",611,"ARSA(ENST00000216124):Leu430Pro"]
["ATL2",285,"His",288,"ATL1(ENST00000358385):His258Arg"]
["ATL3",247,"Gln",281,"ATL1(ENST00000358385):Gln251Lys"]
["ATP10A",699,"Asp",781,"ATP8B1(ENST00000536015):Asp554Ala;ATP8B1(ENST00000536015):Asp554Asn"]
["ATP10D",437,"Ser",469,"ATP8B1(ENST00000536015):Ser453Tyr"]
["ATP11A",264,"Gly",320,"ATP8B1(ENST00000536015):Gly308Val;ATP8B1(ENST00000536015):Gly308Asp;ATP8B1(ENST00000536015):Gly308Ser"]
["ATP11C",361,"Ser",419,"ATP8B1(ENST00000536015):Ser403Tyr"]
["ATP11C",920,"Ser",1258,"ATP8B1(ENST00000536015):Ser994Arg"]
["ATP12A",715,"Ser",722,"ATP1A3(ENST00000545399):Ser697Phe"]
["ATP12A",792,"Asn",799,"ATP1A3(ENST00000545399):Asn774His"]
["ATP12A",1032,"Arg",1039,"ATP1A2(ENST00000361216):Arg1007Trp"]
["ATP1A1",518,"Cys",546,"ATP1A2(ENST00000361216):Cys515Tyr"]
["ATP1A1",593,"Asp",621,"ATP1A3(ENST00000545399):Asp596Tyr"]
["ATP1A1",1006,"Lys",1035,"ATP1A2(ENST00000361216):Lys1003Glu"]
["ATP1A2",332,"Glu",362,"ATP1A3(ENST00000545399):Glu337Asp;ATP1A3(ENST00000545399):Glu337Gly;ATP1A3(ENST00000545399):Glu337Gln"]
["ATP1A2",930,"Asp",961,"ATP1A3(ENST00000545399):Asp936Tyr;ATP1A3(ENST00000545399):Asp936Asn"]
["ATP1A3",306,"Gly",331,"ATP1A1(ENST00000537345):Gly303Arg;ATP1A2(ENST00000361216):Gly301Arg"]
["ATP1A3",792,"Pro",817,"ATP1A2(ENST00000361216):Pro786Leu"]
["ATP1A4",606,"Pro",628,"ATP1A1(ENST00000537345):Pro600Thr;ATP1A1(ENST00000537345):Pro600Ala"]
["ATP1A4",726,"Asn",748,"ATP1A2(ENST00000361216):Asn717Lys"]
["ATP1A4",937,"Trp",959,"ATP1A1(ENST00000537345):Trp931Arg"]
["ATP2A1",181,"Thr",237,"ATP2A2(ENST00000539276):Thr181Arg"]
["ATP2A1",701,"Thr",765,"ATP2A2(ENST00000539276):Thr700Ala"]
["ATP2A1",844,"Val",938,"ATP2A2(ENST00000539276):Val843Phe"]
["ATP2A3",65,"Leu",121,"ATP2A2(ENST00000539276):Leu65Val;ATP2A2(ENST00000539276):Leu65Ser"]
["ATP2A3",354,"Gly",415,"ATP2C1(ENST00000393221):Gly387Val"]
["ATP2A3",738,"Asp",803,"ATP2A1(ENST00000357084):Asp738Asn"]
["ATP2C1",254,"Gly",268,"ATP2A2(ENST00000539276):Gly211Asp;ATP2A2(ENST00000539276):Gly211Val"]
["ATP2C2",118,"Leu",121,"ATP2A2(ENST00000539276):Leu65Val;ATP2A2(ENST00000539276):Leu65Ser"]
["ATP2C2",372,"Cys",405,"ATP2A2(ENST00000539276):Cys344Tyr"]
["ATP2C2",884,"Leu",1007,"ATP2A2(ENST00000539276):Leu912Pro"]
["ATP4A",359,"Ala",376,"ATP1A3(ENST00000545399):Ala351Val"]
["ATP4A",791,"Leu",808,"ATP1A3(ENST00000545399):Leu783Arg"]
["ATP4A",1014,"Asp",1031,"ATP1A2(ENST00000361216):Asp999His;ATP1A3(ENST00000545399):Asp1005Tyr"]
["ATP6V0A2",447,"Phe",450,"ATP6V0A4(ENST00000310018):Phe445Leu"]
["ATP6V0A2",792,"Pro",806,"TCIRG1(ENST00000265686):Pro775Arg"]
["ATP8A1",166,"Pro",216,"ATP8B1(ENST00000536015):Pro209Thr"]
["ATP8B2",234,"Cys",272,"ATP8B1(ENST00000536015):Cys265Arg"]
["ATP8B2",425,"Asp",470,"ATP8B1(ENST00000536015):Asp454Gly"]
["AUH",271,"Ala",285,"ECHS1(ENST00000368547):Ala222Thr"]
["AXL",545,"Gly",631,"MERTK(ENST00000295408):Gly596Arg"]
["B3GNT5",155,"Asp",266,"B3GNT6(ENST00000533140):Asp184Glu"]
["B3GNT6",192,"Asp",274,"B3GALNT1(ENST00000392781):Asp150Gly"]
["BDH2",182,"Thr",271,"HPGD(ENST00000296522):Thr188Ile"]
["BMP2",85,"Arg",155,"GDF1(ENST00000247005):Arg68His"]
["BMP4",83,"Met",149,"GDF2(ENST00000249598):Met89Val"]
["BMP6",507,"Val",598,"GDF2(ENST00000249598):Val423Met"]
["BMP7",175,"Arg",275,"BMP6(ENST00000283147):Arg257His"]
["BMP8B",371,"Lys",572,"GDF6(ENST00000287020):Lys424Arg"]
["BMPR1A",248,"Val",311,"TGFBR2(ENST00000359013):Val283Gly"]
["BMPR1A",374,"Gly",488,"AMHR2(ENST00000257863):Gly345Ala"]
["BMPR1B",62,"Cys",79,"ACVRL1(ENST00000388922):Cys34Tyr"]
["BMPR1B",120,"Arg",169,"BMPR1A(ENST00000372037):Arg119Cys"]
["BMPR1B",379,"Ala",493,"ACVRL1(ENST00000388922):Ala347Pro;ACVRL1(ENST00000388922):Ala347Asp;ACVRL1(ENST00000388922):Ala347Gly"]
["BMPR1B",431,"Tyr",554,"TGFBR2(ENST00000359013):Tyr473His;TGFBR2(ENST00000359013):Tyr473Cys"]
["BRAF",713,"Ser",810,"RAF1(ENST00000251849):Ser605Phe"]
["C1QTNF5",149,"Gly",264,"C1QA(ENST00000374642):Gly157Asp;C1QC(ENST00000374639):Gly164Ser"]
["C3",353,"Tyr",388,"C5(ENST00000223642):Tyr352Cys"]
["C5",157,"Arg",184,"C3(ENST00000245907):Arg161Trp"]
["C8A",115,"Cys",142,"C9(ENST00000263408):Cys119Gly"]
["CA2",7,"Tyr",43,"CA4(ENST00000300900):Tyr25Cys"]
["CA4",128,"His",159,"CA2(ENST00000285379):His107Tyr"]
["CA8",139,"Glu",169,"CA12(ENST00000178638):Glu143Lys"]
["CACNA1A",711,"Ile",717,"CACNA1E(ENST00000367573):Ile701Val"]
["CACNA1B",230,"Leu",238,"CACNA1E(ENST00000367573):Leu228Pro"]
["CACNA1B",708,"Ala",718,"CACNA1E(ENST00000367573):Ala702Thr;CACNA1E(ENST00000367573):Ala702Pro;CACNA1A(ENST00000360228):Ala712Thr"]
["CACNA1B",1580,"Arg",1704,"CACNA1A(ENST00000360228):Arg1672Pro"]
["CACNA1D",537,"Arg",585,"CACNA1C(ENST00000347598):Arg518Cys;CACNA1C(ENST00000347598):Arg518His"]
["CACNA1E",138,"Glu",148,"CACNA1A(ENST00000360228):Glu147Lys"]
["CACNA1E",1305,"Val",1421,"CACNA1A(ENST00000360228):Val1392Leu;CACNA1A(ENST00000360228):Val1392Met"]
["CACNA1F",1556,"Lys",1711,"CACNA1C(ENST00000347598):Lys1639Thr"]
["CACNA1G",2115,"Pro",2237,"CACNA1H(ENST00000348261):Pro2083Leu"]
["CACNA2D4",1051,"Leu",1129,"CACNA2D2(ENST00000479441):Leu1053Pro"]
["CALCRL",173,"Arg",319,"GHRHR(ENST00000326139):Arg161Trp"]
["CALM2",133,"Gly",260,"CALM1(ENST00000356978):Gly133Glu"]
["CALML4",89,"Pro",168,"TNNC1(ENST00000232975):Pro54His"]
["CALML6",160,"Asp",261,"CALM2(ENST00000272298):Asp134His;TNNC1(ENST00000232975):Asp145Glu"]
["CAMK4",240,"Pro",247,"CAMK2A(ENST00000398376):Pro212Leu;CAMK2A(ENST00000398376):Pro212Gln;CAMK2B(ENST00000395749):Pro213Leu"]
["CAPN1",107,"Ile",132,"CAPN3(ENST00000397163):Ile121Asn"]
["CAPN1",391,"Phe",507,"CAPN3(ENST00000397163):Phe454Ser"]
["CAPN1",498,"Pro",634,"CAPN12(ENST00000328867):Pro504Gln"]
["CAPN11",85,"Phe",85,"CAPN3(ENST00000397163):Phe80Leu"]
["CAPN11",244,"Gly",255,"CAPN3(ENST00000397163):Gly234Glu"]
["CAPN11",580,"Ala",738,"CAPN3(ENST00000397163):Ala662Ser"]
["CAPN12",109,"Ala",144,"CAPN3(ENST00000397163):Ala133Val"]
["CAPN12",187,"Lys",232,"CAPN3(ENST00000397163):Lys211Glu;CAPN3(ENST00000397163):Lys211Asn"]
["CAPN13",46,"Ser",91,"CAPN3(ENST00000397163):Ser86Phe"]
["CAPN13",469,"Phe",645,"CAPN3(ENST00000397163):Phe569Ser"]
["CAPN14",139,"Phe",186,"CAPN3(ENST00000397163):Phe167Ser"]
["CAPN14",382,"Leu",515,"CAPN3(ENST00000397163):Leu462Arg"]
["CAPN14",596,"Phe",810,"CAPN3(ENST00000397163):Phe731Ser"]
["CAPN2",231,"Ala",288,"CAPN3(ENST00000397163):Ala255Pro"]
["CAPN2",417,"Arg",564,"CAPN3(ENST00000397163):Arg490Trp;CAPN3(ENST00000397163):Arg490Gln"]
["CAPN5",141,"Pro",202,"CAPN3(ENST00000397163):Pro183Arg;CAPN3(ENST00000397163):Pro183Leu"]
["CAPN5",283,"Arg",398,"CAPN1(ENST00000527323):Arg295Pro;CAPN3(ENST00000397163):Arg357Trp;CAPN3(ENST00000397163):Arg357Gln"]
["CAPN6",162,"Leu",225,"CAPN3(ENST00000397163):Leu204Val"]
["CAPN6",402,"Leu",558,"CAPN3(ENST00000397163):Leu484Met;CAPN3(ENST00000397163):Leu484Pro"]
["CAPN8",180,"Leu",225,"CAPN3(ENST00000397163):Leu204Val"]
["CAPN8",588,"Asp",783,"CAPN3(ENST00000397163):Asp705His;CAPN3(ENST00000397163):Asp705Gly"]
["CAPN9",190,"Gly",243,"CAPN3(ENST00000397163):Gly222Arg"]
["CAPN9",360,"Arg",492,"CAPN3(ENST00000397163):Arg440Trp;CAPN3(ENST00000397163):Arg440Gln"]
["CARD11",72,"Arg",77,"CARD14(ENST00000573882):Arg69Trp;CARD14(ENST00000573882):Arg69Gln"]
["CASQ1",221,"Lys",222,"CASQ2(ENST00000261448):Lys206Asn"]
["CBLB",373,"Cys",383,"CBL(ENST00000264033):Cys381Gly"]
["CDC42",59,"Ala",105,"RAC3(ENST00000306897):Ala59Gly"]
["CDH15",280,"Arg",428,"DSC2(ENST00000280904):Arg375Gly"]
["CDH2",790,"Leu",835,"CDH1(ENST00000261769):Leu772Gln"]
["CDH26",109,"Glu",236,"DSC2(ENST00000280904):Glu189Gln"]
["CDH3",704,"Glu",820,"CDH1(ENST00000261769):Glu758Lys"]
["CDH4",265,"Ile",280,"DSC2(ENST00000280904):Ile231Thr"]
["CDKN2B",24,"Arg",25,"CDKN2A(ENST00000498124):Arg22Trp"]
["CDKN2B",62,"Ala",64,"CDKN2A(ENST00000498124):Ala60Glu"]
["CDKN2D",48,"Val",55,"CDKN2A(ENST00000498124):Val51Phe"]
["CELSR1",1838,"Arg",1943,"CELSR2(ENST00000271332):Arg1759Trp"]
["CELSR2",1537,"Val",1715,"CELSR1(ENST00000262738):Val1612Leu"]
["CES2",237,"Val",245,"BCHE(ENST00000264381):Val170Met"]
["CES3",489,"Glu",589,"BCHE(ENST00000264381):Glu488Lys"]
["CFD",118,"Leu",133,"ELANE(ENST00000590230):Leu121His;ELANE(ENST00000590230):Leu121Pro"]
["CFHR1",112,"Ile",112,"CFHR2(ENST00000367415):Ile112Phe"]
["CFTR",970,"Gly",1338,"ABCC6(ENST00000205557):Gly1042Ser"]
["CGB",84,"Phe",88,"LHB(ENST00000221421):Phe84Leu"]
["CGB7",130,"Cys",134,"FSHB(ENST00000417547):Cys122Arg"]
["CHD3",533,"Cys",561,"CHD4(ENST00000357008):Cys467Tyr"]
["CHD5",1147,"Arg",1274,"CHD4(ENST00000357008):Arg1173Leu"]
["CHD8",815,"Gln",1028,"CHD7(ENST00000423902):Gln972Arg"]
["CHD8",1051,"Val",1264,"CHD7(ENST00000423902):Val1208Asp"]
["CHD9",832,"Pro",996,"CHD7(ENST00000423902):Pro940Leu"]
["CHD9",1734,"Asp",1910,"CHD7(ENST00000423902):Asp1854Gly"]
["CHRNA1",263,"Val",334,"CHRNB1(ENST00000306071):Val252Phe"]
["CHRNA2",266,"Leu",328,"CHRNE(ENST00000293780):Leu241Phe"]
["CHRNA2",315,"Thr",378,"CHRNA4(ENST00000370263):Thr293Ile"]
["CHRNA3",291,"Thr",378,"CHRNA4(ENST00000370263):Thr293Ile"]
["CHRNA4",591,"Trp",680,"CHRND(ENST00000258385):Trp462Leu"]
["CHRNA5",215,"Asn",287,"CHRNE(ENST00000293780):Asn202Tyr"]
["CHRNA6",269,"Gly",357,"CHRNA1(ENST00000261007):Gly285Trp"]
["CHRNA6",318,"Ile",406,"CHRNB2(ENST00000368476):Ile312Met"]
["CHRNB1",293,"Leu",376,"CHRNB2(ENST00000368476):Leu282Arg;CHRNE(ENST00000293780):Leu289Phe"]
["CHRNB2",259,"Pro",352,"CHRNE(ENST00000293780):Pro265Leu;CHRND(ENST00000258385):Pro271Gln"]
["CHRNB3",234,"Leu",328,"CHRNE(ENST00000293780):Leu241Phe"]
["CHRNB4",454,"Val",683,"CHRNA1(ENST00000261007):Val447Phe"]
["CHRND",166,"Ser",245,"CHRNE(ENST00000293780):Ser163Leu"]
["CHRNE",396,"Glu",590,"CHRND(ENST00000258385):Glu402Lys"]
["CHRNG",150,"Cys",230,"CHRNE(ENST00000293780):Cys148Ser"]
["CHST1",154,"Arg",284,"CHST3(ENST00000373115):Arg222Trp;CHST3(ENST00000373115):Arg222Leu"]
["CHST11",239,"Glu",385,"CHST14(ENST00000306243):Glu262Lys"]
["CHST2",260,"Ser",292,"CHST6(ENST00000332272):Ser131Leu;CHST6(ENST00000332272):Ser131Pro"]
["CHST3",285,"Pro",353,"CHST6(ENST00000332272):Pro186Arg"]
["CHST4",68,"Val",206,"CHST6(ENST00000332272):Val66Leu"]
["CHST5",68,"Leu",186,"CHST6(ENST00000332272):Leu46Pro"]
["CHST5",129,"Phe",257,"CHST6(ENST00000332272):Phe107Ser"]
["CHST7",83,"Pro",162,"CHST6(ENST00000332272):Pro31Leu;CHST6(ENST00000332272):Pro31Ser"]
["CHUK",127,"Asp",128,"TBK1(ENST00000331710):Asp118Asn"]
["CLCN2",255,"Pro",282,"CLCN1(ENST00000343257):Pro282Arg"]
["CLCN2",386,"Phe",413,"CLCN1(ENST00000343257):Phe413Cys"]
["CLCN2",820,"Val",865,"CLCN1(ENST00000343257):Val851Met"]
["CLCN3",538,"Gly",601,"CLCNKB(ENST00000375679):Gly437Arg"]
["CLCN4",184,"Pro",257,"CLCNKB(ENST00000375679):Pro124Leu"]
["CLCN5",532,"Gly",597,"CLCNKB(ENST00000375679):Gly433Glu;CLCN7(ENST00000382745):Gly521Arg"]
["CLCNKA",219,"Gly",359,"CLCNKB(ENST00000375679):Gly219Cys"]
["CLCNKB",68,"Asp",159,"CLCN7(ENST00000382745):Asp145Gly"]
["CLDN17",90,"Leu",90,"CLDN19(ENST00000296387):Leu90Arg;CLDN19(ENST00000296387):Leu90Pro"]
["CLDN2",64,"Cys",64,"CLDN14(ENST00000399137):Cys64Tyr"]
["CLDN7",90,"Leu",90,"CLDN19(ENST00000296387):Leu90Arg;CLDN19(ENST00000296387):Leu90Pro"]
["CMA1",114,"Leu",133,"ELANE(ENST00000590230):Leu121His;ELANE(ENST00000590230):Leu121Pro"]
["CNGA1",79,"Ile",79,"KCNH2(ENST00000262186):Ile42Thr;KCNH2(ENST00000262186):Ile42Asn"]
["CNGA1",290,"Thr",533,"CNGA3(ENST00000393504):Thr224Arg;CNGA3(ENST00000393504):Thr224Ile;KCNH2(ENST00000262186):Thr473Asn;KCNH2(ENST00000262186):Thr473Pro"]
["CNGA1",472,"Met",797,"CNGA3(ENST00000393504):Met406Thr"]
["CNGA1",627,"Gly",953,"CNGA3(ENST00000393504):Gly561Glu"]
["CNGA2",249,"Arg",618,"CNGA3(ENST00000393504):Arg277Gly;CNGA3(ENST00000393504):Arg277Cys;CNGA3(ENST00000393504):Arg277His"]
["CNGA2",479,"Asp",898,"KCNH2(ENST00000262186):Asp767Tyr"]
["CNGA3",258,"Pro",569,"KCNH2(ENST00000262186):Pro507Leu;CNGB3(ENST00000320005):Pro309Leu"]
["CNGA3",388,"Gly",779,"KCNH2(ENST00000262186):Gly648Asp;KCNH2(ENST00000262186):Gly648Ser"]
["CNGA4",156,"Arg",631,"CNGA3(ENST00000393504):Arg290His"]
["CNGA4",243,"Glu",768,"KCNH2(ENST00000262186):Glu637Asp;KCNH2(ENST00000262186):Glu637Gly;KCNH2(ENST00000262186):Glu637Lys"]
["CNGA4",498,"Arg",1083,"KCNH2(ENST00000262186):Arg922Gln"]
["CNGB3",339,"His",630,"HCN1(ENST00000303230):His279Tyr"]
["CNGB3",600,"Gly",949,"CNGA3(ENST00000393504):Gly557Arg"]
["CNTNAP3B",823,"Thr",834,"CNTNAP1(ENST00000264638):Thr815Asn"]
["CNTNAP4",594,"Cys",603,"CNTNAP1(ENST00000264638):Cys585Tyr"]
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["COL11A1",663,"Pro",914,"COL11A2(ENST00000374708):Pro535Thr"]
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["COL11A1",1242,"Pro",1675,"COL1A2(ENST00000297268):Pro810Ser"]
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["COL11A1",1453,"Gly",1911,"COL2A1(ENST00000380518):Gly1131Ala;COL1A1(ENST00000225964):Gly1109Ser;COL3A1(ENST00000304636):Gly1107Arg"]
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["COL11A2",271,"Gly",490,"COL4A4(ENST00000396625):Gly137Asp"]
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["COL11A2",815,"Gly",1321,"COL4A1(ENST00000375820):Gly749Ser;COL4A3(ENST00000396578):Gly759Arg"]
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["COL11A2",1501,"Trp",2102,"COL1A1(ENST00000225964):Trp1275Arg"]
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["COL4A6",1534,"Arg",2116,"COL4A3(ENST00000396578):Arg1496Gln"]
["COL5A1",571,"Gly",753,"COL2A1(ENST00000380518):Gly219Glu;COL2A1(ENST00000380518):Gly219Arg;COL1A1(ENST00000225964):Gly197Val;COL1A1(ENST00000225964):Gly197Asp;COL1A1(ENST00000225964):Gly197Cys;COL1A1(ENST00000225964):Gly197Arg;COL1A1(ENST00000225964):Gly197Ser;COL3A1(ENST00000304636):Gly195Arg;COL3A1(ENST00000304636):Gly195Val;COL1A2(ENST00000297268):Gly109Asp"]
["COL5A1",630,"Arg",823,"COL2A1(ENST00000380518):Arg275Cys"]
["COL5A1",736,"Gly",983,"COL2A1(ENST00000380518):Gly381Asp;COL2A1(ENST00000380518):Gly381Arg;COL1A1(ENST00000225964):Gly359Glu;COL1A2(ENST00000297268):Gly271Arg;COL1A2(ENST00000297268):Gly271Cys;COL1A2(ENST00000297268):Gly271Asp"]
["COL5A1",850,"Gly",1123,"COL2A1(ENST00000380518):Gly495Glu;COL1A2(ENST00000297268):Gly385Arg;COL1A2(ENST00000297268):Gly385Glu"]
["COL5A1",1030,"Gly",1383,"COL1A1(ENST00000225964):Gly647Ser;COL4A4(ENST00000396625):Gly837Ala"]
["COL5A1",1189,"Gly",1562,"COL1A1(ENST00000225964):Gly812Ser;COL4A3(ENST00000396578):Gly988Arg"]
["COL5A1",1264,"Gly",1667,"COL2A1(ENST00000380518):Gly912Asp;COL4A1(ENST00000375820):Gly1082Glu;COL4A4(ENST00000396625):Gly1103Arg;COL4A3(ENST00000396578):Gly1086Glu;COL1A2(ENST00000297268):Gly802Ser;COL1A2(ENST00000297268):Gly802Ala;COL1A2(ENST00000297268):Gly802Val"]
["COL5A1",1318,"Gly",1724,"COL1A1(ENST00000225964):Gly944Cys;COL3A1(ENST00000304636):Gly942Arg;COL3A1(ENST00000304636):Gly942Glu;COL1A2(ENST00000297268):Gly856Arg;COL1A2(ENST00000297268):Gly856Glu;COL1A2(ENST00000297268):Gly856Val"]
["COL5A1",1492,"Gly",1920,"COL2A1(ENST00000380518):Gly1140Ala;COL2A1(ENST00000380518):Gly1140Asp;COL3A1(ENST00000304636):Gly1116Val;COL4A3(ENST00000396578):Gly1319Arg;COL1A2(ENST00000297268):Gly1030Asp;COL1A2(ENST00000297268):Gly1030Ala"]
["COL5A1",1812,"Ile",2276,"COL1A1(ENST00000225964):Ile1439Thr"]
["COL5A2",219,"Gly",741,"COL2A1(ENST00000380518):Gly207Glu;COL2A1(ENST00000380518):Gly207Arg;COL3A1(ENST00000304636):Gly183Ser;COL3A1(ENST00000304636):Gly183Arg;COL3A1(ENST00000304636):Gly183Cys;COL3A1(ENST00000304636):Gly183Asp;COL3A1(ENST00000304636):Gly183Ala;COL4A4(ENST00000396625):Gly276Ala"]
["COL5A2",322,"Glu",872,"COL1A1(ENST00000225964):Glu288Lys"]
["COL5A2",375,"Gly",965,"COL1A1(ENST00000225964):Gly341Cys;COL1A1(ENST00000225964):Gly341Arg;COL4A4(ENST00000396625):Gly466Arg;COL4A3(ENST00000396578):Gly452Arg;COL1A2(ENST00000297268):Gly253Asp"]
["COL5A2",537,"Gly",1170,"COL1A1(ENST00000225964):Gly503Cys;COL3A1(ENST00000304636):Gly501Arg;COL3A1(ENST00000304636):Gly501Glu;COL3A1(ENST00000304636):Gly501Ala;COL11A2(ENST00000374708):Gly722Glu"]
["COL5A2",699,"Gly",1401,"COL2A1(ENST00000380518):Gly687Asp;COL2A1(ENST00000380518):Gly687Arg;COL2A1(ENST00000380518):Gly687Ser;COL3A1(ENST00000304636):Gly663Arg;COL3A1(ENST00000304636):Gly663Asp;COL3A1(ENST00000304636):Gly663Val;COL4A4(ENST00000396625):Gly855Arg;COL1A2(ENST00000297268):Gly577Ser"]
["COL5A2",756,"Gly",1460,"COL2A1(ENST00000380518):Gly744Ser;COL1A1(ENST00000225964):Gly722Ser;COL4A4(ENST00000396625):Gly912Ser;COL4A3(ENST00000396578):Gly895Asp;COL1A2(ENST00000297268):Gly634Arg;COL1A2(ENST00000297268):Gly634Val"]
["COL5A2",912,"Gly",1655,"COL4A1(ENST00000375820):Gly1070Arg;COL1A1(ENST00000225964):Gly878Asp;COL1A1(ENST00000225964):Gly878Ser;COL1A2(ENST00000297268):Gly790Asp;COL1A2(ENST00000297268):Gly790Ala"]
["COL5A2",969,"Gly",1715,"COL3A1(ENST00000304636):Gly933Arg;COL1A2(ENST00000297268):Gly847Ser;COL1A2(ENST00000297268):Gly847Arg"]
["COL5A2",1068,"Gly",1830,"COL3A1(ENST00000304636):Gly1032Val;COL1A2(ENST00000297268):Gly946Arg"]
["COL5A2",1185,"Gly",1953,"COL2A1(ENST00000380518):Gly1173Arg;COL1A1(ENST00000225964):Gly1151Val;COL1A1(ENST00000225964):Gly1151Ser;COL3A1(ENST00000304636):Gly1149Asp"]
["COL5A2",1398,"Ser",2199,"COL1A2(ENST00000297268):Ser1265Pro;COL1A2(ENST00000297268):Ser1265Cys"]
["COL5A3",542,"Gly",815,"COL2A1(ENST00000380518):Gly270Arg;COL1A1(ENST00000225964):Gly248Glu;COL1A1(ENST00000225964):Gly248Arg;COL3A1(ENST00000304636):Gly246Glu;COL1A2(ENST00000297268):Gly160Arg"]
["COL5A3",605,"Gly",905,"COL1A1(ENST00000225964):Gly308Val"]
["COL5A3",791,"Gly",1161,"COL2A1(ENST00000380518):Gly516Asp;COL2A1(ENST00000380518):Gly516Ser;COL3A1(ENST00000304636):Gly492Arg;COL3A1(ENST00000304636):Gly492Glu;COL3A1(ENST00000304636):Gly492Val;COL4A3(ENST00000396578):Gly634Glu;COL1A2(ENST00000297268):Gly406Ser"]
["COL5A3",827,"Gly",1241,"COL1A1(ENST00000225964):Gly530Cys;COL1A1(ENST00000225964):Gly530Ser;COL4A4(ENST00000396625):Gly698Arg;COL1A2(ENST00000297268):Gly442Arg;COL1A2(ENST00000297268):Gly442Glu"]
["COL5A3",1013,"Gly",1454,"COL2A1(ENST00000380518):Gly738Asp;COL4A1(ENST00000375820):Gly879Glu;COL3A1(ENST00000304636):Gly714Arg;COL3A1(ENST00000304636):Gly714Glu;COL1A2(ENST00000297268):Gly628Arg"]
["COL5A3",1133,"Gly",1587,"COL4A1(ENST00000375820):Gly1008Arg;COL1A1(ENST00000225964):Gly836Ala;COL3A1(ENST00000304636):Gly834Asp;COL4A4(ENST00000396625):Gly1030Val;COL4A4(ENST00000396625):Gly1030Asp;COL1A2(ENST00000297268):Gly748Ser;COL1A2(ENST00000297268):Gly748Val"]
["COL5A3",1250,"Gly",1736,"COL1A1(ENST00000225964):Gly956Ala;COL1A1(ENST00000225964):Gly956Arg;COL3A1(ENST00000304636):Gly954Arg;COL3A1(ENST00000304636):Gly954Glu;COL4A4(ENST00000396625):Gly1169Val;COL4A3(ENST00000396578):Gly1152Arg;COL4A3(ENST00000396578):Gly1152Cys"]
["COL5A3",1391,"Gly",1899,"COL2A1(ENST00000380518):Gly1119Arg;COL1A1(ENST00000225964):Gly1097Val;COL3A1(ENST00000304636):Gly1095Asp"]
["COL5A3",1475,"Gly",1992,"COL4A1(ENST00000375820):Gly1384Ser;COL1A1(ENST00000225964):Gly1181Ser;COL3A1(ENST00000304636):Gly1179Arg;COL3A1(ENST00000304636):Gly1179Val;COL1A2(ENST00000297268):Gly1093Ser;COL1A2(ENST00000297268):Gly1093Ala"]
["COL6A1",319,"Lys",331,"COL6A2(ENST00000300527):Lys318Asn"]
["COL6A2",268,"Gly",281,"COL6A1(ENST00000361866):Gly269Arg;COL6A1(ENST00000361866):Gly269Glu"]
["COL8A2",671,"Asp",735,"COL10A1(ENST00000327673):Asp648Gly;COL10A1(ENST00000327673):Asp648Asn"]
["CPA3",178,"Arg",205,"CPA1(ENST00000011292):Arg181Gln"]
["CPA4",310,"Tyr",334,"CPA1(ENST00000011292):Tyr308His"]
["CPA6",166,"Gly",172,"CPB1(ENST00000491148):Gly146Arg"]
["CPB1",404,"Ala",433,"CPA1(ENST00000011292):Ala406Val"]
["CPT1A",248,"Leu",280,"CHAT(ENST00000337653):Leu210Pro"]
["CPT1A",737,"Ser",799,"CHAT(ENST00000337653):Ser694Cys"]
["CPT1C",453,"Ser",508,"CPT1A(ENST00000265641):Ser456Leu"]
["CRAT",585,"Ile",794,"CHAT(ENST00000337653):Ile689Ser"]
["CREBBP",2242,"Pro",2332,"EP300(ENST00000263253):Pro2221Gln"]
["CRHR2",337,"Lys",537,"GHRHR(ENST00000326139):Lys329Glu"]
["CROT",572,"Ser",749,"CPT1A(ENST00000265641):Ser687Arg"]
["CRYBA1",35,"Ile",63,"CRYBB2(ENST00000398215):Ile21Asn"]
["CRYBA4",147,"Gly",197,"CRYGC(ENST00000282141):Gly129Cys;CRYBB2(ENST00000398215):Gly149Asp;CRYBB2(ENST00000398215):Gly149Val"]
["CRYBB1",161,"Gly",165,"CRYBB2(ENST00000398215):Gly119Arg"]
["CRYBB2",149,"Gly",197,"CRYGC(ENST00000282141):Gly129Cys;CRYBA4(ENST00000354760):Gly147Val"]
["CRYGA",126,"Val",193,"CRYBB2(ENST00000398215):Val146Met;CRYBB2(ENST00000398215):Val146Leu"]
["CRYGB",132,"Trp",200,"CRYBB2(ENST00000398215):Trp151Cys"]
["CRYGD",56,"Tyr",115,"CRYBA4(ENST00000354760):Tyr67Asn"]
["CRYGS",172,"Ser",241,"CRYBA1(ENST00000225387):Ser209Trp;CRYGC(ENST00000282141):Ser166Phe;CRYBB2(ENST00000398215):Ser186Pro;CRYBB1(ENST00000215939):Ser228Pro"]
["CSF1R",774,"Cys",901,"KIT(ENST00000288135):Cys788Arg"]
["CSF1R",855,"Pro",982,"KIT(ENST00000288135):Pro869Ser"]
["CTSE",68,"Glu",88,"CTSD(ENST00000236671):Glu69Lys"]
["CTSG",112,"Leu",133,"ELANE(ENST00000590230):Leu121His;ELANE(ENST00000590230):Leu121Pro"]
["CYP11A1",344,"Arg",371,"CYP27B1(ENST00000228606):Arg335Pro;CYP11B1(ENST00000292427):Arg332Gln;CYP11B1(ENST00000292427):Arg332Gly"]
["CYP11B1",181,"Arg",214,"CYP11B2(ENST00000323110):Arg181Gln;CYP11B2(ENST00000323110):Arg181Trp"]
["CYP11B2",65,"His",97,"CYP24A1(ENST00000216862):His83Asp"]
["CYP11B2",420,"Pro",461,"CYP27A1(ENST00000258415):Pro441Ser"]
["CYP11B2",465,"His",511,"CYP11B1(ENST00000292427):His465Leu"]
["CYP17A1",412,"Phe",457,"CYP21A2(ENST00000418967):Phe405Leu;CYP21A2(ENST00000418967):Phe405Ser"]
["CYP17A1",488,"Ser",535,"CYP1B1(ENST00000260630):Ser515Leu"]
["CYP1A1",386,"Ile",416,"CYP1B1(ENST00000260630):Ile399Ser"]
["CYP1A2",128,"Asp",141,"CYP17A1(ENST00000369887):Asp116Val"]
["CYP1A2",337,"Pro",363,"CYP1B1(ENST00000260630):Pro350Thr"]
["CYP1A2",484,"Pro",514,"CYP21A2(ENST00000418967):Pro454Ser"]
["CYP1B1",211,"Gly",219,"CYP21A2(ENST00000418967):Gly179Arg;CYP21A2(ENST00000418967):Gly179Ala"]
["CYP21A2",255,"Arg",300,"CYP1B1(ENST00000260630):Arg290Cys"]
["CYP21A2",407,"Pro",459,"CYP17A1(ENST00000369887):Pro414Leu;CYP1B1(ENST00000260630):Pro442Arg"]
["CYP26A1",45,"Pro",67,"CYP26C1(ENST00000285949):Pro50Ser"]
["CYP27A1",511,"Val",531,"CYP11B1(ENST00000292427):Val484Asp"]
["CYP27B1",236,"Met",271,"CYP24A1(ENST00000216862):Met253Lys"]
["CYP2A13",437,"Arg",493,"CYP2D6(ENST00000360608):Arg441Cys;CYP2U1(ENST00000332884):Arg488Trp"]
["CYP2C19",435,"Cys",495,"CYP2U1(ENST00000332884):Cys490Tyr"]
["CYP2S1",65,"Gly",115,"CYP2U1(ENST00000332884):Gly115Ser"]
["CYP3A43",63,"Glu",89,"CYP4V2(ENST00000378802):Glu79Asp"]
["CYP3A5",63,"Glu",89,"CYP4V2(ENST00000378802):Glu79Asp"]
["CYP4A11",325,"Thr",430,"CYP4V2(ENST00000378802):Thr333Lys"]
["CYP4A11",455,"Arg",566,"CYP4V2(ENST00000378802):Arg465Gly"]
["CYP4B1",413,"Leu",526,"CYP4V2(ENST00000378802):Leu426Phe"]
["CYP4F11",396,"Pro",495,"CYP4V2(ENST00000378802):Pro396Leu"]
["CYP4F12",386,"Lys",485,"CYP4V2(ENST00000378802):Lys386Thr"]
["CYP4F22",229,"Tyr",281,"CYP4V2(ENST00000378802):Tyr219His"]
["CYP4F22",477,"Gly",570,"TBXAS1(ENST00000416849):Gly528Trp"]
["CYP4F8",324,"Thr",422,"CYP4V2(ENST00000378802):Thr325Ile"]
["CYP4V2",147,"Arg",160,"CYP4F22(ENST00000269703):Arg156Cys;CYP4F22(ENST00000269703):Arg156His"]
["CYP4Z1",225,"Arg",295,"CYP4F22(ENST00000269703):Arg243Cys;CYP4F22(ENST00000269703):Arg243His"]
["CYP4Z1",451,"Asn",567,"CYP4V2(ENST00000378802):Asn466Asp"]
["CYP8B1",287,"Thr",322,"CYP7B1(ENST00000310193):Thr297Ala"]
["DCK",184,"Thr",222,"TK2(ENST00000451102):Thr188Ala"]
["DCK",212,"His",250,"DGUOK(ENST00000264093):His226Arg"]
["DCT",293,"Asn",302,"TYR(ENST00000263321):Asn283Ile"]
["DCT",369,"His",383,"TYR(ENST00000263321):His363Tyr;TYR(ENST00000263321):His363Arg"]
["DES",127,"Arg",139,"GFAP(ENST00000586793):Arg88Cys;GFAP(ENST00000586793):Arg88Ser"]
["DES",281,"Tyr",299,"GFAP(ENST00000586793):Tyr242Asp;GFAP(ENST00000586793):Tyr242Asn"]
["DHH",111,"Ala",116,"SHH(ENST00000297261):Ala110Asp;SHH(ENST00000297261):Ala110Thr"]
["DHH",323,"Gly",349,"SHH(ENST00000297261):Gly343Asp"]
["DHRS7",258,"Gly",326,"RDH5(ENST00000257895):Gly238Trp"]
["DHRS9",271,"Thr",296,"HSD11B2(ENST00000326152):Thr267Ala"]
["DIRAS3",47,"Gly",48,"RIT1(ENST00000368322):Gly48Arg"]
["DLX3",141,"Leu",192,"MSX2(ENST00000239243):Leu154Pro"]
["DLX5",168,"Ala",211,"MSX1(ENST00000382723):Ala203Thr"]
["DNAH1",2002,"Arg",2747,"DYNC1H1(ENST00000360184):Arg2358Cys"]
["DNAH10",2244,"Arg",2747,"DYNC1H1(ENST00000360184):Arg2358Cys"]
["DNAH11",1580,"Lys",1929,"DYNC1H1(ENST00000360184):Lys1581Glu"]
["DNAH11",3429,"Arg",4050,"DYNC1H1(ENST00000360184):Arg3525Cys;DNAH9(ENST00000262442):Arg3398Leu;DNAH1(ENST00000420323):Arg3169Gly;DNAH5(ENST00000265104):Arg3539His;DNAH5(ENST00000265104):Arg3539Cys"]
["DNAH2",2651,"Val",3302,"DNAH5(ENST00000265104):Val2829Phe"]
["DNAH2",4341,"Trp",5177,"DNAH5(ENST00000265104):Trp4545Arg"]
["DNAH3",4075,"Arg",5225,"DNAH7(ENST00000312428):Arg3983Trp"]
["DNAH5",3104,"Ala",3594,"DYNC1H1(ENST00000360184):Ala3084Thr"]
["DNAH6",3129,"Glu",4168,"DNAH1(ENST00000420323):Glu3284Lys"]
["DNAH7",1499,"Asp",2457,"DYNC1H1(ENST00000360184):Asp2087Gly"]
["DNAH8",506,"Val",543,"DNAH5(ENST00000265104):Val400Met"]
["DNAH8",2030,"Leu",2242,"DNAH1(ENST00000420323):Leu1548Val"]
["DNAH9",376,"Tyr",554,"DNAH5(ENST00000265104):Tyr411Cys"]
["DNAJB2",96,"Phe",100,"DNAJB6(ENST00000262177):Phe93Ile;DNAJB6(ENST00000262177):Phe93Leu"]
["DNM1",357,"Ser",386,"DNM2(ENST00000389253):Ser357Phe"]
["DNM2",266,"Arg",295,"DNM1(ENST00000372923):Arg266Cys"]
["DNM2",399,"Arg",428,"DNM1(ENST00000372923):Arg399Gly"]
["DNMT3A",800,"Gly",824,"DNMT3B(ENST00000328111):Gly741Arg"]
["DOCK10",1699,"Arg",1966,"DOCK6(ENST00000294618):Arg1596Trp"]
["DOCK6",1143,"Leu",1428,"DOCK8(ENST00000453981):Leu1193Val"]
["DPYSL3",188,"Thr",194,"DPYS(ENST00000351513):Thr68Arg"]
["DPYSL5",58,"Val",185,"DPYS(ENST00000351513):Val59Phe"]
["DSC2",302,"Gly",354,"CDH3(ENST00000264012):Gly277Val"]
["DSC3",231,"Ile",280,"DSC2(ENST00000280904):Ile231Thr"]
["DSG1",280,"Glu",284,"DSG2(ENST00000261590):Glu283Lys"]
["DSG3",265,"Pro",271,"DSG4(ENST00000359747):Pro267Arg"]
["DSG4",456,"Ser",460,"DSG2(ENST00000261590):Ser457Cys"]
["DYRK1B",298,"Ser",346,"DYRK1A(ENST00000398960):Ser346Pro;DYRK1A(ENST00000398960):Ser346Phe"]
["EBF1",198,"Cys",199,"EBF3(ENST00000368648):Cys198Tyr"]
["ECH1",129,"Gln",154,"ECHS1(ENST00000368547):Gln109His"]
["ECHDC1",162,"Gly",200,"AUH(ENST00000375731):Gly187Ser"]
["EFEMP2",140,"Cys",202,"FBLN5(ENST00000342058):Cys144Trp"]
["ELOVL1",69,"Leu",88,"ELOVL5(ENST00000541407):Leu72Val"]
["EMP2",23,"Thr",23,"PMP22(ENST00000395938):Thr23Arg"]
["EMP3",101,"Gly",102,"PMP22(ENST00000395938):Gly100Glu;PMP22(ENST00000395938):Gly100Arg"]
["ENC1",395,"Gly",537,"KLHL41(ENST00000284669):Gly405Ser"]
["EP300",1497,"Ser",1578,"CREBBP(ENST00000262367):Ser1533Cys"]
["EPB42",209,"Trp",295,"TGM1(ENST00000206765):Trp288Arg;F13A1(ENST00000264870):Trp226Cys"]
["EPB42",311,"Cys",405,"F13A1(ENST00000264870):Cys328Phe"]
["EPHA1",788,"Ile",1051,"EPHB4(ENST00000358173):Ile782Ser"]
["EPHA10",694,"Glu",891,"EPHB4(ENST00000358173):Glu664Lys"]
["EPHA2",853,"Cys",1125,"EPHB4(ENST00000358173):Cys856Tyr"]
["EPHA4",441,"Pro",604,"EPHA2(ENST00000358432):Pro439Ser"]
["EPHA6",429,"Pro",486,"EPHB4(ENST00000358173):Pro327Leu"]
["EPHA8",273,"Cys",427,"EPHB4(ENST00000358173):Cys268Arg"]
["EPHA8",856,"Arg",1107,"EPHB4(ENST00000358173):Arg838Trp"]
["EPHB3",93,"Arg",198,"EPHB4(ENST00000358173):Arg74Pro"]
["EPHB3",740,"Arg",991,"EPHA2(ENST00000358432):Arg721Gln"]
["ERAS",43,"Lys",43,"KRAS(ENST00000256078):Lys5Asn;KRAS(ENST00000256078):Lys5Glu"]
["ERBB2",753,"Lys",771,"EGFR(ENST00000275493):Lys745Arg"]
["ERBB3",773,"Arg",802,"EGFR(ENST00000275493):Arg776Gly;EGFR(ENST00000275493):Arg776His"]
["ESRP1",293,"Arg",315,"ESRP2(ENST00000473183):Arg315His"]
["ETV5",442,"Arg",596,"ETV4(ENST00000319349):Arg415His"]
["EXTL1",482,"Phe",593,"EXT1(ENST00000378204):Phe550Ser"]
["EYA2",459,"Leu",579,"EYA1(ENST00000340726):Leu513Pro"]
["EYA4",622,"Met",635,"EYA1(ENST00000340726):Met569Thr"]
["F10",121,"Cys",156,"PROC(ENST00000234071):Cys131Ser"]
["F10",340,"Pro",386,"F7(ENST00000375581):Pro320Leu;PROC(ENST00000234071):Pro317Ser"]
["F10",430,"Thr",487,"PROC(ENST00000234071):Thr413Ala"]
["F13A1",280,"Trp",356,"TGM1(ENST00000206765):Trp342Arg"]
["F13A1",418,"Ile",495,"TGM1(ENST00000206765):Ile480Phe"]
["F13B",336,"Cys",340,"CFHR5(ENST00000256785):Cys269Arg"]
["F7",243,"Ile",307,"PROC(ENST00000234071):Ile243Thr;PROC(ENST00000234071):Ile243Met"]
["F7",429,"Ala",501,"F10(ENST00000375559):Ala444Thr"]
["F9",49,"Ser",69,"F10(ENST00000375559):Ser43Cys"]
["F9",156,"Ser",189,"PROC(ENST00000234071):Ser161Arg"]
["F9",315,"Asp",368,"F7(ENST00000375581):Asp302Asn;F7(ENST00000375581):Asp302His;F10(ENST00000375559):Asp322Asn"]
["F9",431,"Trp",496,"F7(ENST00000375581):Trp424Cys;PROC(ENST00000234071):Trp422Gly;PROC(ENST00000234071):Trp422Cys"]
["FAM111A",519,"Ser",640,"FAM111B(ENST00000343597):Ser628Asn"]
["FBN1",1099,"Glu",1159,"FBN2(ENST00000508053):Glu1144Lys"]
["FBN1",1391,"Cys",1451,"FBN2(ENST00000508053):Cys1436Arg"]
["FBN2",247,"Trp",256,"FBN1(ENST00000316623):Trp217Gly"]
["FBN2",661,"Glu",675,"FBN1(ENST00000316623):Glu616Gly;FBN1(ENST00000316623):Glu616Lys"]
["FBN2",831,"Gly",845,"FBN1(ENST00000316623):Gly786Glu"]
["FBN2",966,"Cys",980,"FBN1(ENST00000316623):Cys921Tyr;FBN1(ENST00000316623):Cys921Gly;FBN1(ENST00000316623):Cys921Arg"]
["FBN2",1161,"Glu",1176,"FBN1(ENST00000316623):Glu1116Lys"]
["FBN2",1245,"Glu",1260,"FBN1(ENST00000316623):Glu1200Val;FBN1(ENST00000316623):Glu1200Gly"]
["FBN2",1453,"Cys",1468,"FBN1(ENST00000316623):Cys1408Phe;FBN1(ENST00000316623):Cys1408Ser;FBN1(ENST00000316623):Cys1408Arg"]
["FBN2",1552,"Gly",1567,"FBN1(ENST00000316623):Gly1507Asp"]
["FBN2",1811,"Glu",1830,"FBN1(ENST00000316623):Glu1769Lys"]
["FBN2",1938,"Cys",1957,"FBN1(ENST00000316623):Cys1895Tyr;FBN1(ENST00000316623):Cys1895Arg"]
["FBN2",2096,"Cys",2115,"FBN1(ENST00000316623):Cys2053Phe;FBN1(ENST00000316623):Cys2053Tyr"]
["FBN2",2321,"Cys",2340,"FBN1(ENST00000316623):Cys2274Trp;FBN1(ENST00000316623):Cys2274Ser;FBN1(ENST00000316623):Cys2274Arg"]
["FBN2",2363,"Cys",2383,"FBN1(ENST00000316623):Cys2316Phe;FBN1(ENST00000316623):Cys2316Tyr;FBN1(ENST00000316623):Cys2316Arg"]
["FBN2",2643,"Tyr",2663,"FBN1(ENST00000316623):Tyr2596Cys"]
["FBN2",2706,"Cys",2727,"FBN1(ENST00000316623):Cys2659Gly"]
["FBN3",284,"Ser",322,"FBN1(ENST00000316623):Ser283Thr"]
["FBN3",323,"Arg",403,"FBN1(ENST00000316623):Arg364Pro"]
["FBN3",707,"Cys",807,"FBN1(ENST00000316623):Cys748Tyr;FBN1(ENST00000316623):Cys748Arg"]
["FBN3",888,"Thr",988,"FBN1(ENST00000316623):Thr929Pro"]
["FBN3",973,"Ala",1074,"FBN1(ENST00000316623):Ala1015Pro;FBN1(ENST00000316623):Ala1015Thr"]
["FBN3",1140,"Cys",1242,"FBN1(ENST00000316623):Cys1182Trp;FBN1(ENST00000316623):Cys1182Ser;FBN1(ENST00000316623):Cys1182Tyr"]
["FBN3",1223,"Cys",1325,"FBN1(ENST00000316623):Cys1265Ser;FBN1(ENST00000316623):Cys1265Tyr;FBN1(ENST00000316623):Cys1265Gly;FBN1(ENST00000316623):Cys1265Arg"]
["FBN3",1427,"Arg",1529,"FBN1(ENST00000316623):Arg1469Pro;FBN1(ENST00000316623):Arg1469Cys"]
["FBN3",1588,"Cys",1691,"FBN1(ENST00000316623):Cys1631Gly;FBN1(ENST00000316623):Cys1631Ser"]
["FBN3",1788,"Arg",1894,"FBN1(ENST00000316623):Arg1832Pro;FBN1(ENST00000316623):Arg1832Cys"]
["FBN3",1929,"Asp",2035,"FBN1(ENST00000316623):Asp1973Gly;FBN1(ENST00000316623):Asp1973Asn"]
["FBN3",2104,"Asp",2210,"FBN2(ENST00000508053):Asp2191Asn"]
["FBN3",2346,"Ala",2452,"FBN1(ENST00000316623):Ala2385Thr"]
["FBN3",2572,"Cys",2678,"FBN1(ENST00000316623):Cys2611Tyr;FBN1(ENST00000316623):Cys2611Arg"]
["FBN3",2650,"Ser",2756,"FBN1(ENST00000316623):Ser2688Cys"]
["FGF10",164,"Tyr",188,"FGF5(ENST00000312465):Tyr174His"]
["FGF18",14,"His",15,"FGF8(ENST00000320185):His14Asn"]
["FGF8",137,"Ile",138,"FGF17(ENST00000359441):Ile108Thr"]
["FGFR1",414,"Gly",430,"FGFR2(ENST00000457416):Gly385Arg;FGFR3(ENST00000340107):Gly384Asp"]
["FGFR2",105,"Tyr",141,"FGFR1(ENST00000425967):Tyr132Cys"]
["FGFR2",220,"Ser",259,"FGFR3(ENST00000340107):Ser217Cys"]
["FGFR2",574,"Arg",619,"FGFR1(ENST00000425967):Arg601Trp"]
["FGFR3",237,"Ile",279,"FGFR1(ENST00000425967):Ile270Thr"]
["FGFR3",294,"Asn",336,"FGFR1(ENST00000425967):Asn327Ile"]
["FGFR3",652,"Lys",705,"FGFR2(ENST00000457416):Lys660Asn;FGFR2(ENST00000457416):Lys660Glu;FGFR1(ENST00000425967):Lys687Asn;FGFR1(ENST00000425967):Lys687Glu"]
["FGFR3",714,"Arg",767,"FGFR1(ENST00000425967):Arg749Gly"]
["FGFR4",254,"Gly",300,"FGFR1(ENST00000425967):Gly291Glu"]
["FGFR4",643,"Tyr",703,"FGFR3(ENST00000340107):Tyr650Ser;FGFR3(ENST00000340107):Tyr650Phe"]
["FGFR4",701,"Leu",761,"FGFR1(ENST00000425967):Leu743Pro"]
["FLNA",261,"Leu",261,"FLNB(ENST00000490882):Leu234Val"]
["FLNA",1728,"Gly",1761,"FLNB(ENST00000490882):Gly1723Ser"]
["FLNC",382,"Gly",389,"FLNB(ENST00000490882):Gly361Ser;FLNB(ENST00000490882):Gly361Cys;FLNB(ENST00000490882):Gly361Asp"]
["FLNC",1569,"Ala",1608,"FLNB(ENST00000490882):Ala1578Pro;FLNB(ENST00000490882):Ala1578Asp"]
["FLT1",1069,"Glu",1116,"FLT4(ENST00000261937):Glu1084Lys"]
["FLT3",686,"Pro",752,"KIT(ENST00000288135):Pro665Ser"]
["FLT3",870,"Asp",964,"CSF1R(ENST00000286301):Asp837Tyr"]
["FMOD",278,"Asn",289,"KERA(ENST00000266719):Asn247Ser"]
["FSHR",237,"Gly",252,"TSHR(ENST00000541158):Gly245Ser;TSHR(ENST00000541158):Gly245Val"]
["FSHR",585,"Met",645,"TSHR(ENST00000541158):Met637Arg"]
["FUT2",93,"Ala",111,"FUT1(ENST00000310160):Ala110Thr"]
["G6PC2",77,"Gly",81,"G6PC(ENST00000253801):Gly81Arg"]
["G6PC3",114,"His",119,"G6PC(ENST00000253801):His119Asp;G6PC(ENST00000253801):His119Leu"]
["GABRA2",59,"Pro",110,"GABRG2(ENST00000414552):Pro83Ser"]
["GABRA2",325,"Phe",417,"GABRA1(ENST00000428797):Phe325Leu"]
["GABRA4",118,"Arg",163,"GABRA1(ENST00000428797):Arg112Gln"]
["GABRA4",376,"Pro",462,"GABRA1(ENST00000428797):Pro360His"]
["GABRA6",253,"Met",355,"GABRA1(ENST00000428797):Met263Lys;GABRA1(ENST00000428797):Met263Thr;GABRA1(ENST00000428797):Met263Ile"]
["GABRB1",97,"Leu",144,"GLRB(ENST00000264428):Leu116Pro"]
["GABRB1",305,"Ala",359,"GABRB3(ENST00000311550):Ala305Val;GABRB3(ENST00000311550):Ala305Asp;GABRB3(ENST00000311550):Ala305Thr;GABRB2(ENST00000274547):Ala304Val"]
["GABRB2",109,"Asn",160,"GABRB3(ENST00000311550):Asn110Asp"]
["GABRB3",275,"Arg",328,"GLRA1(ENST00000455880):Arg280His;GLRA1(ENST00000455880):Arg280Cys"]
["GABRB3",285,"Thr",338,"GLRA1(ENST00000455880):Thr290Ile;GABRB2(ENST00000274547):Thr284Lys"]
["GABRD",277,"Pro",326,"GLRA1(ENST00000455880):Pro278Thr"]
["GABRG1",287,"Leu",359,"GABRA1(ENST00000428797):Leu267Ile"]
["GABRG1",345,"Phe",417,"GABRA1(ENST00000428797):Phe325Leu"]
["GABRG3",81,"Ser",127,"GABRA1(ENST00000428797):Ser76Arg"]
["GABRP",192,"Trp",243,"GLRA1(ENST00000455880):Trp198Ser"]
["GABRQ",284,"Trp",315,"GLRA1(ENST00000455880):Trp267Cys"]
["GABRR1",221,"Tyr",234,"GABRB3(ENST00000311550):Tyr184His"]
["GABRR2",137,"Asp",170,"GABRB3(ENST00000311550):Asp120Asn;GLRA1(ENST00000455880):Asp125Asn"]
["GABRR3",143,"Asp",170,"GABRB3(ENST00000311550):Asp120Asn;GLRA1(ENST00000455880):Asp125Asn"]
["GABRR3",304,"Ile",333,"GABRB3(ENST00000311550):Ile280Phe"]
["GALNS",39,"Asp",91,"ARSA(ENST00000216124):Asp31Glu;ARSA(ENST00000216124):Asp31Asn;ARSB(ENST00000264914):Asp53Asn"]
["GALNS",91,"Leu",143,"ARSA(ENST00000216124):Leu83Pro"]
["GALNS",419,"Cys",579,"ARSB(ENST00000264914):Cys447Phe;ARSB(ENST00000264914):Cys447Ser"]
["GALNT10",506,"Thr",668,"GALNT12(ENST00000375011):Thr491Met"]
["GALNT14",183,"Gly",336,"GALNT3(ENST00000392701):Gly256Val"]
["GALNT3",350,"Arg",435,"GALNT14(ENST00000324589):Arg273Cys"]
["GALNT4",362,"His",501,"GALNT3(ENST00000392701):His415Gln"]
["GALR3",75,"Cys",167,"KISS1R(ENST00000234371):Cys95Trp"]
["GANAB",280,"Gly",317,"GAA(ENST00000302262):Gly259Val"]
["GANAB",736,"Leu",803,"GAA(ENST00000302262):Leu712Pro"]
["GANC",571,"Arg",691,"GAA(ENST00000302262):Arg600Cys;GAA(ENST00000302262):Arg600His;GAA(ENST00000302262):Arg600Pro;GAA(ENST00000302262):Arg600Leu"]
["GATA1",86,"Gly",103,"GATA5(ENST00000252997):Gly63Ala"]
["GATA3",156,"Thr",181,"GATA2(ENST00000341105):Thr176Pro"]
["GATA3",340,"Asn",376,"GATA2(ENST00000341105):Asn371Lys"]
["GCDH",191,"Met",232,"IVD(ENST00000487418):Met179Val"]
["GCGR",82,"Pro",173,"PTH1R(ENST00000313049):Pro132Leu;GHRHR(ENST00000326139):Pro79Leu"]
["GDF2",327,"Cys",498,"GDF1(ENST00000247005):Cys267Tyr"]
["GDF7",390,"Leu",539,"GDF3(ENST00000329913):Leu305Arg;GDF3(ENST00000329913):Leu305Pro"]
["GFAP",105,"Arg",156,"PRPH(ENST00000257860):Arg133Pro"]
["GFPT2",148,"Thr",151,"GFPT1(ENST00000357308):Thr151Lys"]
["GIPR",267,"Pro",432,"GHRHR(ENST00000326139):Pro253Leu"]
["GJA1",223,"Leu",288,"GJA5(ENST00000271348):Leu221Ile"]
["GJA10",155,"Arg",218,"GJA1(ENST00000282561):Arg153Gln"]
["GJA3",23,"Lys",25,"GJA1(ENST00000282561):Lys23Thr"]
["GJA3",351,"Ala",457,"GJA1(ENST00000282561):Ala323Val"]
["GJA4",23,"Lys",25,"GJA1(ENST00000282561):Lys23Thr"]
["GJA4",203,"Pro",268,"GJA8(ENST00000240986):Pro199Ser;GJA3(ENST00000241125):Pro197Ser"]
["GJA5",48,"Glu",50,"GJA8(ENST00000240986):Glu48Lys;GJA3(ENST00000241125):Glu48Gly;GJA1(ENST00000282561):Glu48Lys"]
["GJA5",204,"Lys",271,"GJC2(ENST00000366714):Lys264Arg;GJA1(ENST00000282561):Lys206Arg"]
["GJA8",150,"Thr",219,"GJA3(ENST00000241125):Thr148Ile;GJA1(ENST00000282561):Thr154Ala;GJA1(ENST00000282561):Thr154Asn"]
["GJA8",190,"Asn",259,"GJA3(ENST00000241125):Asn188Ile;GJA3(ENST00000241125):Asn188Thr"]
["GJA9",206,"Thr",269,"GJC2(ENST00000366714):Thr262Pro"]
["GJB1",31,"Phe",31,"GJB2(ENST00000382844):Phe31Ile"]
["GJB1",142,"Arg",150,"GJB2(ENST00000382844):Arg143Leu;GJB2(ENST00000382844):Arg143Gln;GJB2(ENST00000382844):Arg143Trp"]
["GJB1",183,"Arg",192,"GJB2(ENST00000382844):Arg184Pro;GJB2(ENST00000382844):Arg184Gln;GJB2(ENST00000382844):Arg184Trp;GJB2(ENST00000382844):Arg184Gly"]
["GJB2",195,"Met",203,"GJB4(ENST00000339480):Met190Leu"]
["GJB3",211,"Cys",226,"GJB2(ENST00000382844):Cys218Tyr"]
["GJB4",42,"Glu",42,"GJB2(ENST00000382844):Glu42Asp;GJB2(ENST00000382844):Glu42Lys"]
["GJB4",164,"Cys",176,"GJB2(ENST00000382844):Cys169Tyr"]
["GJB5",42,"Arg",42,"GJB3(ENST00000373366):Arg42Pro"]
["GJB6",15,"Lys",15,"GJB2(ENST00000382844):Lys15Thr"]
["GJB6",95,"Val",99,"GJB2(ENST00000382844):Val95Met"]
["GJB6",139,"Ser",146,"GJB2(ENST00000382844):Ser139Asn;GJB2(ENST00000382844):Ser139Cys"]
["GJB7",12,"Gly",12,"GJB4(ENST00000339480):Gly12Asp;GJB3(ENST00000373366):Gly12Ser;GJB3(ENST00000373366):Gly12Arg;GJB3(ENST00000373366):Gly12Asp;GJB2(ENST00000382844):Gly12Val;GJB2(ENST00000382844):Gly12Asp;GJB2(ENST00000382844):Gly12Cys;GJB2(ENST00000382844):Gly12Arg"]
["GJB7",128,"Leu",147,"GJB3(ENST00000373366):Leu135Val"]
["GJC1",72,"Ser",75,"GJA8(ENST00000240986):Ser73Phe"]
["GJC1",250,"Met",293,"GJC2(ENST00000366714):Met286Thr"]
["GJC3",21,"Gly",21,"GJB2(ENST00000382844):Gly21Arg;GJB6(ENST00000356192):Gly21Arg"]
["GJC3",133,"Leu",139,"GJB2(ENST00000382844):Leu132Val"]
["GJD3",88,"Pro",90,"GJA5(ENST00000271348):Pro88Ser;GJA8(ENST00000240986):Pro88Thr;GJA8(ENST00000240986):Pro88Ser;GJA8(ENST00000240986):Pro88Gln;GJC2(ENST00000366714):Pro90Ser"]
["GLI2",566,"Cys",644,"GLI3(ENST00000395925):Cys609Tyr"]
["GLP1R",243,"Trp",398,"PTH1R(ENST00000313049):Trp298Gly"]
["GLRA1",250,"Tyr",298,"GABRB2(ENST00000274547):Tyr244His"]
["GLRA2",265,"Ser",307,"GABRB3(ENST00000311550):Ser254Phe;GLRA1(ENST00000455880):Ser259Arg;GLRA1(ENST00000455880):Ser259Asn"]
["GLRA2",328,"Val",371,"GABRB2(ENST00000274547):Val316Ile"]
["GLRA3",309,"Lys",352,"GABRB3(ENST00000311550):Lys299Gln;GLRA1(ENST00000455880):Lys304Glu;GLRA1(ENST00000455880):Lys304Gln"]
["GLRA4",53,"Gly",90,"GLRA1(ENST00000455880):Gly47Arg"]
["GLRB",96,"Glu",124,"GABRB3(ENST00000311550):Glu77Lys"]
["GLRB",230,"Gln",260,"GABRB2(ENST00000274547):Gln209Pro"]
["GNA14",203,"Gly",212,"GNAT2(ENST00000351050):Gly202Glu;GNAO1(ENST00000262494):Gly203Arg"]
["GNA15",355,"Val",357,"GNA11(ENST00000078429):Val340Met"]
["GNAI1",173,"Asp",183,"GNAO1(ENST00000262494):Asp174Asn;GNAO1(ENST00000262494):Asp174Gly"]
["GNAI3",206,"Ser",216,"GNAO1(ENST00000262494):Ser207Tyr;GNA11(ENST00000078429):Ser211Trp"]
["GNAO1",47,"Ser",56,"GNAI3(ENST00000369851):Ser47Arg;GNAT2(ENST00000351050):Ser47Gly"]
["GNAT1",200,"Gln",214,"GNA11(ENST00000078429):Gln209Pro;GNA11(ENST00000078429):Gln209Leu;GNA14(ENST00000341700):Gln205Leu;GNAQ(ENST00000286548):Gln209Leu;GNAQ(ENST00000286548):Gln209Arg;GNAQ(ENST00000286548):Gln209Pro"]
["GNAT2",130,"Leu",140,"GNA11(ENST00000078429):Leu135Gln"]
["GNB1",67,"Ser",117,"GNB3(ENST00000229264):Ser67Phe"]
["GNB3",106,"Ala",156,"GNB1(ENST00000378609):Ala106Thr"]
["GNB4",89,"Lys",139,"GNB1(ENST00000378609):Lys89Arg"]
["GPR6",192,"Tyr",196,"S1PR2(ENST00000590320):Tyr140Cys"]
["GRHL1",442,"Ser",462,"GRHL3(ENST00000350501):Ser428Arg"]
["GRIK2",654,"Asn",734,"GRIA4(ENST00000282499):Asn641Asp"]
["GRIK5",641,"Ala",737,"GRIA4(ENST00000282499):Ala644Val;GRID2(ENST00000282020):Ala654Thr;GRID2(ENST00000282020):Ala654Asp;GRIA1(ENST00000518783):Ala646Thr;GRIK2(ENST00000421544):Ala657Thr"]
["GRIN2B",78,"Pro",100,"GRIN2A(ENST00000396573):Pro79Arg"]
["GRIN2B",667,"Ser",702,"GRIN2D(ENST00000263269):Ser694Arg"]
["GRIN2C",442,"Ser",479,"GRIN2D(ENST00000263269):Ser471Asn"]
["GRIN2C",748,"Ile",786,"GRIN2B(ENST00000609686):Ile751Thr;GRIN2B(ENST00000609686):Ile751Leu"]
["GRIN2D",582,"Ser",590,"GRIN2B(ENST00000609686):Ser555Ile"]
["GRIN2D",759,"Asp",767,"GRIN2A(ENST00000396573):Asp731Asn"]
["GRM4",357,"Arg",386,"GRM6(ENST00000231188):Arg352Cys"]
["GRM7",682,"Arg",752,"GRM6(ENST00000231188):Arg677His;GRM6(ENST00000231188):Arg677Cys"]
["GUCY2C",105,"Leu",142,"NPR2(ENST00000342694):Leu82Pro"]
["GUCY2C",831,"Val",998,"GUCY2D(ENST00000254854):Val887Gly"]
["GUCY2D",399,"Glu",469,"NPR2(ENST00000342694):Glu389Asp"]
["GUCY2D",902,"Val",1013,"NPR2(ENST00000342694):Val883Met"]
["GUCY2F",681,"Arg",778,"NPR2(ENST00000342694):Arg655Cys"]
["GZMA",81,"Gly",94,"ELANE(ENST00000590230):Gly85Arg;ELANE(ENST00000590230):Gly85Glu"]
["GZMB",38,"Leu",51,"ELANE(ENST00000590230):Leu47Pro;ELANE(ENST00000590230):Leu47Arg"]
["GZMH",142,"Cys",164,"ELANE(ENST00000590230):Cys151Ser;ELANE(ENST00000590230):Cys151Tyr;ELANE(ENST00000590230):Cys151Phe;ELANE(ENST00000590230):Cys151Trp"]
["GZMK",43,"Ser",50,"ELANE(ENST00000590230):Ser46Tyr;ELANE(ENST00000590230):Ser46Cys;ELANE(ENST00000590230):Ser46Phe"]
["GZMM",80,"Gly",94,"ELANE(ENST00000590230):Gly85Arg;ELANE(ENST00000590230):Gly85Glu"]
["HARS",336,"Tyr",338,"HARS2(ENST00000230771):Tyr337Cys"]
["HBA1",73,"His",80,"HBB(ENST00000335295):His78Tyr;HBB(ENST00000335295):His78Asp;HBA2(ENST00000251595):His73Asp;HBA2(ENST00000251595):His73Arg"]
["HBA1",137,"Leu",144,"HBB(ENST00000335295):Leu142Arg;HBB(ENST00000335295):Leu142Val;HBD(ENST00000380299):Leu142Pro;HBA2(ENST00000251595):Leu137Met;HBA2(ENST00000251595):Leu137Pro"]
["HBA2",46,"His",47,"HBA1(ENST00000320868):His46Asp"]
["HBB",6,"Pro",6,"HBD(ENST00000380299):Pro6Thr"]
["HBB",21,"Val",23,"HBG2(ENST00000380259):Val21Ala"]
["HBB",125,"Pro",127,"HBA2(ENST00000251595):Pro120Ser;HBA1(ENST00000320868):Pro120Ser"]
["HBD",24,"Val",26,"HBB(ENST00000335295):Val24Gly;HBB(ENST00000335295):Val24Ala;HBB(ENST00000335295):Val24Asp;HBB(ENST00000335295):Val24Phe;HBB(ENST00000335295):Val24Ile"]
["HBD",77,"Ala",79,"HBB(ENST00000335295):Ala77Asp;HBB(ENST00000335295):Ala77Pro"]
["HBD",146,"Tyr",148,"HBB(ENST00000335295):Tyr146Cys;HBB(ENST00000335295):Tyr146Asp;HBB(ENST00000335295):Tyr146His;HBB(ENST00000335295):Tyr146Asn;HBA1(ENST00000320868):Tyr141His"]
["HBE1",66,"Lys",68,"HBB(ENST00000335295):Lys66Glu;HBB(ENST00000335295):Lys66Gln"]
["HBE1",108,"Gly",110,"HBB(ENST00000335295):Gly108Asp;HBD(ENST00000380299):Gly108Asp"]
["HBG1",3,"His",3,"HBB(ENST00000335295):His3Arg;HBB(ENST00000335295):His3Pro;HBB(ENST00000335295):His3Tyr;HBD(ENST00000380299):His3Leu;HBD(ENST00000380299):His3Arg;HBD(ENST00000380299):His3Asn"]
["HBG1",80,"Asp",82,"HBB(ENST00000335295):Asp80His;HBB(ENST00000335295):Asp80Asn;HBG2(ENST00000380259):Asp80His;HBA2(ENST00000251595):Asp75Asn;HBA1(ENST00000320868):Asp75Asn;HBA1(ENST00000320868):Asp75His;HBA1(ENST00000320868):Asp75Gly"]
["HBG2",13,"Thr",13,"HBB(ENST00000335295):Thr13Pro"]
["HBG2",58,"Asn",60,"HBB(ENST00000335295):Asn58Ser;HBD(ENST00000380299):Asn58Lys"]
["HBG2",114,"Val",116,"HBB(ENST00000335295):Val114Glu"]
["HBG2",138,"Val",140,"HBB(ENST00000335295):Val138Met;HBA2(ENST00000251595):Val133Gly;HBA1(ENST00000320868):Val133Gly"]
["HBM",110,"Ala",118,"HBB(ENST00000335295):Ala116Val;HBB(ENST00000335295):Ala116Asp;HBB(ENST00000335295):Ala116Pro;HBD(ENST00000380299):Ala116Val;HBA1(ENST00000320868):Ala111Asp"]
["HBQ1",25,"Tyr",26,"HBA1(ENST00000320868):Tyr25Cys"]
["HBQ1",120,"Pro",127,"HBB(ENST00000335295):Pro125Leu;HBB(ENST00000335295):Pro125Arg;HBB(ENST00000335295):Pro125Gln;HBA2(ENST00000251595):Pro120Ser;HBA1(ENST00000320868):Pro120Ser"]
["HBZ",99,"Phe",106,"HBB(ENST00000335295):Phe104Leu;HBB(ENST00000335295):Phe104Val;HBB(ENST00000335295):Phe104Ile"]
["HBZ",124,"Ala",131,"HBB(ENST00000335295):Ala129Val;HBB(ENST00000335295):Ala129Asp;HBB(ENST00000335295):Ala129Pro;HBA2(ENST00000251595):Ala124Ser;HBA1(ENST00000320868):Ala124Pro"]
["HCN1",193,"Asn",530,"KCNH2(ENST00000262186):Asn470Asp"]
["HCN1",461,"Ile",859,"KCNH2(ENST00000262186):Ile728Phe"]
["HCN2",265,"Thr",533,"CNGA3(ENST00000393504):Thr224Arg;CNGA3(ENST00000393504):Thr224Ile;KCNH2(ENST00000262186):Thr473Asn;KCNH2(ENST00000262186):Thr473Pro"]
["HCN2",601,"Leu",933,"CNGA3(ENST00000393504):Leu541Phe;KCNH2(ENST00000262186):Leu799Pro;CNGB3(ENST00000320005):Leu584Pro"]
["HCN2",752,"Leu",1249,"KCNH2(ENST00000262186):Leu1066Val"]
["HCN3",286,"Ile",696,"KCNH2(ENST00000262186):Ile593Arg;KCNH2(ENST00000262186):Ile593Thr;KCNH2(ENST00000262186):Ile593Lys;KCNH2(ENST00000262186):Ile593Val"]
["HCN3",374,"His",818,"KCNH2(ENST00000262186):His687Tyr"]
["HEPH",255,"Gly",257,"CP(ENST00000264613):Gly195Arg"]
["HEXA",58,"Cys",91,"HEXB(ENST00000261416):Cys91Ser"]
["HEXB",211,"Arg",211,"HEXA(ENST00000268097):Arg178Leu;HEXA(ENST00000268097):Arg178His;HEXA(ENST00000268097):Arg178Cys"]
["HGF",221,"Gly",226,"PLG(ENST00000308192):Gly195Asp"]
["HIF1A",587,"Ala",709,"EPAS1(ENST00000263734):Ala530Thr;EPAS1(ENST00000263734):Ala530Val"]
["HIST2H3C",28,"Lys",28,"H3F3A(ENST00000366813):Lys28Met;HIST1H3I(ENST00000328488):Lys28Met;HIST1H3I(ENST00000328488):Lys28Glu"]
["HK2",445,"Ser",458,"HK1(ENST00000404387):Ser449Leu"]
["HNRNPA2B1",317,"Lys",357,"HNRNPA1(ENST00000340913):Lys329Asn"]
["HOXB4",4,"Ser",4,"HOXB6(ENST00000484302):Ser2Asn"]
["HOXC13",309,"Gln",425,"HOXD13(ENST00000392539):Gln325Lys;HOXD13(ENST00000392539):Gln325Arg"]
["HPCA",113,"Asn",114,"GUCA1A(ENST00000394237):Asn104Lys"]
["HPN",201,"Ala",424,"TMPRSS3(ENST00000291532):Ala255Ser"]
["HRAS",58,"Thr",96,"NRAS(ENST00000369535):Thr58Ile;KRAS(ENST00000256078):Thr58Ile;MRAS(ENST00000289104):Thr68Ile"]
["HSD11B2",89,"Gly",99,"RDH5(ENST00000257895):Gly35Ser"]
["HSD17B2",267,"Thr",296,"HSD11B2(ENST00000326152):Thr267Ala"]
["HSD3B1",246,"Ala",292,"HSD3B2(ENST00000543831):Ala245Pro"]
["HSF1",71,"Arg",73,"HSF4(ENST00000264009):Arg73His;HSF4(ENST00000264009):Arg73Leu"]
["HSPA2",269,"Ala",320,"HSPA1L(ENST00000375654):Ala268Thr"]
["HSPA6",558,"Glu",615,"HSPA1L(ENST00000375654):Glu558Asp"]
["HSPB3",65,"Arg",103,"CRYAB(ENST00000533475):Arg69Cys"]
["HSPB8",62,"Gly",62,"HSPB1(ENST00000248553):Gly53Asp"]
["HTRA3",318,"Gly",363,"HTRA1(ENST00000368984):Gly341Arg"]
["IGF1R",164,"Val",170,"INSR(ENST00000302850):Val167Leu"]
["IGF1R",343,"Ser",356,"INSR(ENST00000302850):Ser350Leu"]
["IHH",148,"Gly",149,"SHH(ENST00000297261):Gly143Asp;SHH(ENST00000297261):Gly143Ser"]
["IHH",177,"Trp",178,"DHH(ENST00000266991):Trp173Cys"]
["IKBKE",322,"His",339,"TBK1(ENST00000331710):His322Arg"]
["INA",286,"Trp",313,"DES(ENST00000373960):Trp295Gly"]
["INA",393,"Ile",420,"GFAP(ENST00000586793):Ile363Val;DES(ENST00000373960):Ile402Asn"]
["INSR",1176,"Gly",1194,"IGF1R(ENST00000268035):Gly1152Arg"]
["INSRR",191,"Cys",201,"INSR(ENST00000302850):Cys196Ser"]
["INSRR",1102,"Gly",1164,"INSR(ENST00000302850):Gly1146Arg"]
["IPP",384,"Gly",430,"GAN(ENST00000568107):Gly368Arg"]
["IRF3",355,"Gly",492,"IRF6(ENST00000367021):Gly376Arg"]
["IRF4",393,"Asp",497,"IRF6(ENST00000367021):Asp381Tyr"]
["IRF5",16,"Arg",26,"IRF6(ENST00000367021):Arg9Gln;IRF6(ENST00000367021):Arg9Trp"]
["IRF5",418,"Glu",494,"IRF6(ENST00000367021):Glu378Lys"]
["IRF7",45,"Trp",45,"IRF6(ENST00000367021):Trp28Leu;IRF6(ENST00000367021):Trp28Arg"]
["IRF8",40,"Trp",57,"IRF6(ENST00000367021):Trp40Cys"]
["IRF8",88,"Lys",115,"IRF6(ENST00000367021):Lys89Glu"]
["IRF9",328,"Phe",462,"IRF6(ENST00000367021):Phe351Leu;IRF7(ENST00000397566):Phe423Val"]
["ISL2",68,"Cys",99,"LMX1B(ENST00000355497):Cys94Ser;LMX1B(ENST00000355497):Cys94Trp"]
["ISL2",233,"Arg",267,"LMX1B(ENST00000355497):Arg261Cys;LMX1B(ENST00000355497):Arg261His"]
["ITGA4",35,"Asn",52,"ITGA2B(ENST00000262407):Asn33Asp"]
["ITGA4",570,"Asp",664,"ITGA2B(ENST00000262407):Asp591Ala"]
["ITGA5",955,"Leu",1110,"ITGA2B(ENST00000262407):Leu955Gln"]
["ITGA6",332,"Asp",391,"ITGA4(ENST00000397033):Asp322Glu"]
["ITGA7",1067,"Gly",1180,"ITGA2B(ENST00000262407):Gly1022Cys"]
["ITGA8",479,"Ala",536,"ITGA2B(ENST00000262407):Ala477Pro"]
["ITGA9",529,"Arg",620,"ITGA2B(ENST00000262407):Arg551Gln;ITGA2B(ENST00000262407):Arg551Trp"]
["ITGAV",842,"Leu",976,"ITGA2B(ENST00000262407):Leu847Pro"]
["ITGB1",345,"Tyr",393,"ITGB3(ENST00000559488):Tyr344Ser;ITGB3(ENST00000559488):Tyr344Cys"]
["ITGB2",108,"Arg",166,"ITGB3(ENST00000559488):Arg119Trp;ITGB3(ENST00000559488):Arg119Gln"]
["ITGB3",264,"Trp",313,"ITGB2(ENST00000397850):Trp252Arg"]
["ITGB5",64,"Cys",106,"ITGB3(ENST00000559488):Cys64Tyr;ITGB2(ENST00000397850):Cys62Arg"]
["ITGB5",605,"Arg",665,"ITGB2(ENST00000397850):Arg593Cys"]
["ITGB6",222,"Arg",277,"ITGB3(ENST00000559488):Arg228His"]
["ITGB7",156,"Tyr",189,"ITGB2(ENST00000397850):Tyr131Ser"]
["ITGB8",28,"Trp",28,"ITGB3(ENST00000559488):Trp11Arg"]
["ITGB8",251,"Asp",292,"ITGB3(ENST00000559488):Asp243His;ITGB3(ENST00000559488):Asp243Val;ITGB2(ENST00000397850):Asp231His"]
["ITPR2",2053,"Glu",2141,"ITPR1(ENST00000302640):Glu2094Gln;ITPR1(ENST00000302640):Glu2094Gly"]
["ITPR3",594,"Thr",596,"ITPR1(ENST00000302640):Thr579Ile"]
["IVD",287,"Arg",344,"ACADS(ENST00000242592):Arg272His;GCDH(ENST00000222214):Arg294Trp;GCDH(ENST00000222214):Arg294Gln;GCDH(ENST00000222214):Arg294Pro"]
["IVD",386,"Gly",444,"ACAD8(ENST00000281182):Gly377Ser;ACADS(ENST00000242592):Gly371Val"]
["JAK2",937,"Leu",1074,"JAK3(ENST00000458235):Leu910Ser"]
["JAK2",983,"Leu",1146,"JAK3(ENST00000458235):Leu956Arg"]
["JUP",36,"Ser",45,"CTNNB1(ENST00000349496):Ser45Pro;CTNNB1(ENST00000349496):Ser45Ala;CTNNB1(ENST00000349496):Ser45Tyr;CTNNB1(ENST00000349496):Ser45Cys"]
["KCNA1",380,"Pro",577,"KCNA5(ENST00000252321):Pro488Ser"]
["KCNA10",289,"Arg",428,"KCNA1(ENST00000382545):Arg239Ser"]
["KCNA2",309,"Arg",504,"KCNA1(ENST00000382545):Arg307Cys"]
["KCNA2",416,"Phe",611,"KCNA1(ENST00000382545):Phe414Ser;KCNA1(ENST00000382545):Phe414Cys"]
["KCNA4",226,"Pro",238,"KCNA5(ENST00000252321):Pro170Arg"]
["KCNA4",513,"Asp",558,"KCNA5(ENST00000252321):Asp469Glu"]
["KCNA5",430,"Ser",519,"KCNA2(ENST00000485317):Ser324Thr"]
["KCNA6",353,"Phe",500,"KCNA1(ENST00000382545):Phe303Val"]
["KCNA7",143,"Arg",321,"KCNA1(ENST00000382545):Arg167Met"]
["KCNB2",336,"Gly",336,"KCNB1(ENST00000371741):Gly332Val"]
["KCNB2",420,"Phe",420,"KCNB1(ENST00000371741):Phe416Leu"]
["KCNF1",394,"Gly",519,"KCNV2(ENST00000382082):Gly481Arg"]
["KCNG4",113,"Phe",164,"KCNV2(ENST00000382082):Phe151Val"]
["KCNH1",69,"Phe",111,"KCNH2(ENST00000262186):Phe68Leu"]
["KCNH1",360,"Arg",624,"CNGA3(ENST00000393504):Arg283Trp;CNGA3(ENST00000393504):Arg283Gln;CNGA1(ENST00000402813):Arg349His;KCNH2(ENST00000262186):Arg531Gln;KCNH2(ENST00000262186):Arg531Trp"]
["KCNH1",473,"Thr",765,"KCNH2(ENST00000262186):Thr634Ile;KCNH2(ENST00000262186):Thr634Ala"]
["KCNH1",632,"Asp",925,"CNGA3(ENST00000393504):Asp533His"]
["KCNH2",773,"Gly",904,"CNGA3(ENST00000393504):Gly513Arg;CNGA3(ENST00000393504):Gly513Glu"]
["KCNH3",48,"Gly",84,"KCNH2(ENST00000262186):Gly47Val;KCNH2(ENST00000262186):Gly47Asp;KCNH2(ENST00000262186):Gly47Cys"]
["KCNH3",310,"Asp",563,"CNGA3(ENST00000393504):Asp252Asn;KCNH2(ENST00000262186):Asp501Gly;KCNH2(ENST00000262186):Asp501His;KCNH2(ENST00000262186):Asp501Asn"]
["KCNH3",446,"Pro",736,"KCNH2(ENST00000262186):Pro605Leu;KCNH2(ENST00000262186):Pro605Ser"]
["KCNH3",614,"Asp",905,"CNGA3(ENST00000393504):Asp514Asn;CNGA3(ENST00000393504):Asp514Val;KCNH2(ENST00000262186):Asp774Tyr"]
["KCNH3",703,"Asn",1007,"KCNH2(ENST00000262186):Asn861Ile;KCNH2(ENST00000262186):Asn861Ser;KCNH2(ENST00000262186):Asn861His"]
["KCNH4",221,"His",460,"KCNH2(ENST00000262186):His402Arg"]
["KCNH4",443,"Gly",759,"KCNH2(ENST00000262186):Gly628Val;KCNH2(ENST00000262186):Gly628Ala;KCNH2(ENST00000262186):Gly628Asp;KCNH2(ENST00000262186):Gly628Arg;KCNH2(ENST00000262186):Gly628Ser"]
["KCNH4",479,"Gln",795,"KCNH1(ENST00000271751):Gln503Arg"]
["KCNH5",94,"Glu",138,"KCNH2(ENST00000262186):Glu95Gly"]
["KCNH5",229,"Ala",481,"KCNH2(ENST00000262186):Ala422Asp;KCNH2(ENST00000262186):Ala422Thr"]
["KCNH5",446,"Lys",769,"KCNH2(ENST00000262186):Lys638Asn;KCNH2(ENST00000262186):Lys638Arg;KCNH2(ENST00000262186):Lys638Glu"]
["KCNH5",463,"Ile",786,"KCNH1(ENST00000271751):Ile494Val"]
["KCNH6",39,"Cys",75,"KCNH2(ENST00000262186):Cys39Arg"]
["KCNH6",243,"Arg",452,"KCNH7(ENST00000332142):Arg394His"]
["KCNH6",341,"Tyr",554,"KCNH2(ENST00000262186):Tyr493Phe;KCNH2(ENST00000262186):Tyr493Cys;KCNH2(ENST00000262186):Tyr493Ser;KCNH2(ENST00000262186):Tyr493His"]
["KCNH6",478,"Gly",757,"CNGA3(ENST00000393504):Gly367Val;CNGA1(ENST00000402813):Gly433Asp;KCNH2(ENST00000262186):Gly626Val;KCNH2(ENST00000262186):Gly626Ala;KCNH2(ENST00000262186):Gly626Asp;KCNH2(ENST00000262186):Gly626Ser"]
["KCNH6",508,"Phe",787,"KCNH2(ENST00000262186):Phe656Leu;KCNH2(ENST00000262186):Phe656Cys"]
["KCNH6",687,"Arg",979,"KCNH2(ENST00000262186):Arg835Gln;KCNH2(ENST00000262186):Arg835Trp"]
["KCNH7",50,"Glu",87,"KCNH2(ENST00000262186):Glu50Asp"]
["KCNH7",421,"Thr",480,"KCNH2(ENST00000262186):Thr421Met;KCNH2(ENST00000262186):Thr421Lys"]
["KCNH7",573,"Ile",670,"KCNH2(ENST00000262186):Ile571Met;KCNH2(ENST00000262186):Ile571Val;KCNH2(ENST00000262186):Ile571Leu"]
["KCNH7",595,"Ile",696,"KCNH2(ENST00000262186):Ile593Arg;KCNH2(ENST00000262186):Ile593Thr;KCNH2(ENST00000262186):Ile593Lys;KCNH2(ENST00000262186):Ile593Val"]
["KCNH7",770,"Asp",898,"KCNH2(ENST00000262186):Asp767Tyr"]
["KCNH7",804,"Lys",935,"KCNH2(ENST00000262186):Lys801Thr"]
["KCNH8",203,"Lys",447,"KCNH1(ENST00000271751):Lys199Arg"]
["KCNH8",414,"Gly",735,"KCNH2(ENST00000262186):Gly604Val;KCNH2(ENST00000262186):Gly604Asp;KCNH2(ENST00000262186):Gly604Cys;KCNH2(ENST00000262186):Gly604Ser"]
["KCNH8",473,"Ile",794,"HCN1(ENST00000303230):Ile397Leu"]
["KCNJ1",70,"Thr",102,"KCNJ10(ENST00000368089):Thr57Ile;KCNJ2(ENST00000243457):Thr74Ala"]
["KCNJ1",160,"Leu",207,"KCNJ5(ENST00000529694):Leu168Arg;KCNJ6(ENST00000609713):Leu171Arg"]
["KCNJ10",44,"Ile",88,"KCNJ11(ENST00000339994):Ile49Asn"]
["KCNJ10",138,"Glu",198,"KCNJ1(ENST00000392664):Glu151Lys"]
["KCNJ11",72,"Leu",113,"KCNJ10(ENST00000368089):Leu68Pro"]
["KCNJ12",76,"Val",105,"KCNJ11(ENST00000339994):Val64Gly;KCNJ11(ENST00000339994):Val64Met;KCNJ8(ENST00000240662):Val65Met"]
["KCNJ12",141,"Gln",186,"KCNJ11(ENST00000339994):Gln128Arg"]
["KCNJ12",248,"Gln",293,"KCNJ11(ENST00000339994):Gln235Glu"]
["KCNJ14",80,"Thr",103,"KCNJ11(ENST00000339994):Thr62Met;KCNJ11(ENST00000339994):Thr62Arg;KCNJ1(ENST00000392664):Thr71Met;KCNJ2(ENST00000243457):Thr75Ala;KCNJ2(ENST00000243457):Thr75Arg;KCNJ2(ENST00000243457):Thr75Met"]
["KCNJ14",308,"Glu",350,"KCNJ11(ENST00000339994):Glu292Gly;KCNJ11(ENST00000339994):Glu292Lys;KCNJ2(ENST00000243457):Glu303Lys"]
["KCNJ15",130,"Tyr",191,"KCNJ5(ENST00000529694):Tyr152Cys;KCNJ2(ENST00000243457):Tyr145Cys"]
["KCNJ15",214,"Gly",275,"KCNJ1(ENST00000392664):Gly228Glu"]
["KCNJ16",176,"Glu",198,"KCNJ1(ENST00000392664):Glu151Lys"]
["KCNJ16",259,"Thr",281,"KCNJ11(ENST00000339994):Thr223Pro"]
["KCNJ18",145,"Gly",190,"KCNJ11(ENST00000339994):Gly132Asp;KCNJ5(ENST00000529694):Gly151Arg;KCNJ5(ENST00000529694):Gly151Glu;KCNJ2(ENST00000243457):Gly144Ser;KCNJ2(ENST00000243457):Gly144Asp;KCNJ2(ENST00000243457):Gly144Ala;KCNJ6(ENST00000609713):Gly154Ser"]
["KCNJ18",267,"Pro",312,"KCNJ11(ENST00000339994):Pro254Leu;KCNJ11(ENST00000339994):Pro254Gln"]
["KCNJ2",77,"Val",105,"KCNJ11(ENST00000339994):Val64Gly;KCNJ11(ENST00000339994):Val64Met;KCNJ8(ENST00000240662):Val65Met"]
["KCNJ2",245,"Leu",291,"KCNJ11(ENST00000339994):Leu233Phe"]
["KCNJ3",73,"Thr",102,"KCNJ10(ENST00000368089):Thr57Ile;KCNJ2(ENST00000243457):Thr74Ala"]
["KCNJ3",299,"Leu",345,"KCNJ1(ENST00000392664):Leu297Ser;KCNJ2(ENST00000243457):Leu298Arg"]
["KCNJ3",352,"Pro",399,"KCNJ2(ENST00000243457):Pro351Ser"]
["KCNJ4",208,"Asn",262,"KCNJ2(ENST00000243457):Asn216His"]
["KCNJ4",293,"Met",348,"KCNJ2(ENST00000243457):Met301Lys;KCNJ2(ENST00000243457):Met301Arg"]
["KCNJ5",232,"Ala",271,"KCNJ11(ENST00000339994):Ala213Thr"]
["KCNJ6",75,"Arg",95,"KCNJ11(ENST00000339994):Arg54Cys;KCNJ2(ENST00000243457):Arg67Trp;KCNJ2(ENST00000243457):Arg67Gln"]
["KCNJ6",223,"Arg",259,"KCNJ11(ENST00000339994):Arg201Leu;KCNJ11(ENST00000339994):Arg201His;KCNJ11(ENST00000339994):Arg201Cys;KCNJ11(ENST00000339994):Arg201Gly;KCNJ11(ENST00000339994):Arg201Ser"]
["KCNJ6",351,"Tyr",389,"KCNJ11(ENST00000339994):Tyr330Cys;KCNJ11(ENST00000339994):Tyr330Ser;KCNJ11(ENST00000339994):Tyr330His;KCNJ5(ENST00000529694):Tyr348Asn"]
["KCNJ8",51,"Arg",90,"KCNJ11(ENST00000339994):Arg50Pro;KCNJ11(ENST00000339994):Arg50Gln;KCNJ11(ENST00000339994):Arg50Trp;KCNJ11(ENST00000339994):Arg50Gly"]
["KCNJ8",219,"Met",267,"KCNJ11(ENST00000339994):Met209Ile"]
["KCNJ8",297,"Glu",346,"KCNJ2(ENST00000243457):Glu299Val"]
["KCNJ9",151,"Ala",219,"KCNJ11(ENST00000339994):Ala161Val"]
["KCNJ9",285,"Met",354,"KCNJ2(ENST00000243457):Met307Val;KCNJ2(ENST00000243457):Met307Ile"]
["KCNQ2",278,"Ile",334,"KCNQ3(ENST00000388996):Ile317Thr"]
["KCNQ3",246,"Thr",263,"KCNQ2(ENST00000359125):Thr217Asn;KCNQ2(ENST00000359125):Thr217Ala"]
["KCNQ3",331,"Leu",348,"KCNQ2(ENST00000359125):Leu292Pro"]
["KCNQ5",130,"His",142,"KCNQ2(ENST00000359125):His96Pro"]
["KCNQ5",239,"Ile",251,"KCNQ2(ENST00000359125):Ile205Val"]
["KCNQ5",348,"Ser",370,"KCNQ2(ENST00000359125):Ser314Pro"]
["KCNQ5",568,"Val",625,"KCNQ2(ENST00000359125):Val567Asp"]
["KCNS2",367,"Trp",488,"KCNV2(ENST00000382082):Trp450Arg;KCNV2(ENST00000382082):Trp450Gly"]
["KCNT2",824,"Gln",906,"KCNT1(ENST00000371757):Gln906His"]
["KDR",255,"Gly",276,"FLT4(ENST00000261937):Gly261Cys"]
["KDR",1035,"Leu",1076,"FLT4(ENST00000261937):Leu1044Pro"]
["KIF1B",13,"Arg",13,"KIF1A(ENST00000498729):Arg13His;KIF1A(ENST00000498729):Arg13Cys;KIF1A(ENST00000498729):Arg13Ser"]
["KIF1B",199,"Gly",199,"KIF1A(ENST00000498729):Gly199Arg"]
["KIF5B",267,"Ala",269,"KIF5C(ENST00000435030):Ala268Ser"]
["KIF5C",267,"Ser",268,"KIF5A(ENST00000455537):Ser267Pro"]
["KIT",807,"Lys",920,"CSF1R(ENST00000286301):Lys793Thr"]
["KLHL10",418,"Pro",662,"KLHL3(ENST00000309755):Pro426Leu"]
["KLHL10",547,"Tyr",799,"KLHL3(ENST00000309755):Tyr557Cys"]
["KLHL2",538,"Arg",770,"KLHL3(ENST00000309755):Arg528His;KLHL3(ENST00000309755):Arg528Cys"]
["KLHL21",91,"Leu",154,"KLHL40(ENST00000287777):Leu86Pro"]
["KLHL38",35,"Asp",80,"KLHL40(ENST00000287777):Asp34His"]
["KLHL4",217,"Glu",301,"KLHL3(ENST00000309755):Glu85Ala"]
["KLHL8",417,"Ala",634,"KLHL3(ENST00000309755):Ala398Val"]
["KLKB1",327,"Arg",327,"F11(ENST00000403665):Arg326Cys"]
["KLKB1",428,"Trp",428,"F11(ENST00000403665):Trp425Arg;F11(ENST00000403665):Trp425Leu;F11(ENST00000403665):Trp425Cys"]
["KRAS",34,"Pro",72,"NRAS(ENST00000369535):Pro34Leu"]
["KRT1",185,"Lys",240,"KRT5(ENST00000252242):Lys173Asn"]
["KRT10",156,"Arg",211,"KRT12(ENST00000251643):Arg135Ser;KRT12(ENST00000251643):Arg135Ile;KRT12(ENST00000251643):Arg135Thr;KRT12(ENST00000251643):Arg135Gly;KRT13(ENST00000246635):Arg114His;KRT13(ENST00000246635):Arg114Cys;KRT14(ENST00000167586):Arg125Pro;KRT14(ENST00000167586):Arg125His;KRT14(ENST00000167586):Arg125Cys;KRT14(ENST00000167586):Arg125Gly;KRT14(ENST00000167586):Arg125Ser;KRT16(ENST00000301653):Arg127Pro;KRT16(ENST00000301653):Arg127His;KRT16(ENST00000301653):Arg127Cys;KRT16(ENST00000301653):Arg127Gly;KRT16(ENST00000301653):Arg127Ser;KRT17(ENST00000311208):Arg94Pro;KRT17(ENST00000311208):Arg94His;KRT17(ENST00000311208):Arg94Cys;KRT17(ENST00000311208):Arg94Gly;KRT17(ENST00000311208):Arg94Ser"]
["KRT10",415,"Glu",476,"KRT14(ENST00000167586):Glu381Lys"]
["KRT13",107,"Thr",204,"KRT14(ENST00000167586):Thr118Ile"]
["KRT13",392,"Leu",497,"KRT10(ENST00000269576):Leu436Pro;KRT17(ENST00000311208):Leu371Pro"]
["KRT15",119,"Tyr",215,"KRT10(ENST00000269576):Tyr160Cys;KRT10(ENST00000269576):Tyr160Ser;KRT10(ENST00000269576):Tyr160Asp;KRT10(ENST00000269576):Tyr160Asn;KRT13(ENST00000246635):Tyr118Asp;KRT14(ENST00000167586):Tyr129Cys;KRT14(ENST00000167586):Tyr129Asp;KRT14(ENST00000167586):Tyr129His;KRT14(ENST00000167586):Tyr129Asn;KRT17(ENST00000311208):Tyr98Asp"]
["KRT16",372,"Leu",465,"KRT14(ENST00000167586):Leu370Pro"]
["KRT17",353,"Leu",479,"KRT14(ENST00000167586):Leu384Pro"]
["KRT19",94,"Tyr",215,"KRT10(ENST00000269576):Tyr160Cys;KRT10(ENST00000269576):Tyr160Ser;KRT10(ENST00000269576):Tyr160Asp;KRT10(ENST00000269576):Tyr160Asn;KRT13(ENST00000246635):Tyr118Asp;KRT14(ENST00000167586):Tyr129Cys;KRT14(ENST00000167586):Tyr129Asp;KRT14(ENST00000167586):Tyr129His;KRT14(ENST00000167586):Tyr129Asn;KRT17(ENST00000311208):Tyr98Asp"]
["KRT2",201,"Gln",258,"KRT5(ENST00000252242):Gln191Pro"]
["KRT2",416,"Gln",475,"KRT1(ENST00000252244):Gln418His"]
["KRT24",437,"Arg",502,"KRT10(ENST00000269576):Arg441Pro"]
["KRT25",352,"Leu",479,"KRT14(ENST00000167586):Leu384Pro"]
["KRT26",391,"Leu",514,"KRT10(ENST00000269576):Leu453Pro;KRT12(ENST00000251643):Leu433Arg;KRT14(ENST00000167586):Leu419Gln;KRT16(ENST00000301653):Leu421Pro;KRT17(ENST00000311208):Leu388Arg;KRT17(ENST00000311208):Leu388Pro"]
["KRT27",241,"Val",363,"KRT14(ENST00000167586):Val268Gly;KRT14(ENST00000167586):Val268Asp"]
["KRT28",380,"Lys",500,"KRT10(ENST00000269576):Lys439Glu"]
["KRT3",500,"Ala",537,"KRT6A(ENST00000330722):Ala463Pro;KRT5(ENST00000252242):Ala468Ser"]
["KRT31",64,"Asn",209,"KRT10(ENST00000269576):Asn154His;KRT12(ENST00000251643):Asn133Lys;KRT13(ENST00000246635):Asn112Ser;KRT14(ENST00000167586):Asn123Lys;KRT14(ENST00000167586):Asn123Ile;KRT14(ENST00000167586):Asn123Ser;KRT16(ENST00000301653):Asn125Ser;KRT16(ENST00000301653):Asn125Asp;KRT17(ENST00000311208):Asn92Ser;KRT17(ENST00000311208):Asn92Asp;KRT17(ENST00000311208):Asn92His"]
["KRT32",383,"Leu",497,"KRT10(ENST00000269576):Leu436Pro;KRT17(ENST00000311208):Leu371Pro"]
["KRT33A",71,"Leu",216,"KRT10(ENST00000269576):Leu161Trp;KRT10(ENST00000269576):Leu161Ser;KRT12(ENST00000251643):Leu140Arg;KRT12(ENST00000251643):Leu140Gln;KRT13(ENST00000246635):Leu119Pro;KRT14(ENST00000167586):Leu130Pro;KRT16(ENST00000301653):Leu132Pro;KRT17(ENST00000311208):Leu99Pro"]
["KRT33B",64,"Asn",209,"KRT10(ENST00000269576):Asn154His;KRT12(ENST00000251643):Asn133Lys;KRT13(ENST00000246635):Asn112Ser;KRT14(ENST00000167586):Asn123Lys;KRT14(ENST00000167586):Asn123Ile;KRT14(ENST00000167586):Asn123Ser;KRT16(ENST00000301653):Asn125Ser;KRT16(ENST00000301653):Asn125Asp;KRT17(ENST00000311208):Asn92Ser;KRT17(ENST00000311208):Asn92Asp;KRT17(ENST00000311208):Asn92His"]
["KRT34",112,"Tyr",215,"KRT10(ENST00000269576):Tyr160Cys;KRT10(ENST00000269576):Tyr160Ser;KRT10(ENST00000269576):Tyr160Asp;KRT10(ENST00000269576):Tyr160Asn;KRT13(ENST00000246635):Tyr118Asp;KRT14(ENST00000167586):Tyr129Cys;KRT14(ENST00000167586):Tyr129Asp;KRT14(ENST00000167586):Tyr129His;KRT14(ENST00000167586):Tyr129Asn;KRT17(ENST00000311208):Tyr98Asp"]
["KRT35",401,"Leu",514,"KRT10(ENST00000269576):Leu453Pro;KRT12(ENST00000251643):Leu433Arg;KRT14(ENST00000167586):Leu419Gln;KRT16(ENST00000301653):Leu421Pro;KRT17(ENST00000311208):Leu388Arg;KRT17(ENST00000311208):Leu388Pro"]
["KRT37",125,"Leu",222,"KRT14(ENST00000167586):Leu136Pro;KRT14(ENST00000167586):Leu136Gln"]
["KRT37",411,"Glu",517,"KRT14(ENST00000167586):Glu422Lys"]
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["KRT4",118,"Leu",216,"KRT5(ENST00000252242):Leu149Pro;KRT1(ENST00000252244):Leu161Pro"]
["KRT4",443,"Leu",543,"KRT86(ENST00000293525):Leu410Pro;KRT83(ENST00000293670):Leu415Arg;KRT6B(ENST00000252252):Leu469Arg;KRT6C(ENST00000252250):Leu469Pro;KRT6A(ENST00000330722):Leu469Arg;KRT6A(ENST00000330722):Leu469Pro;KRT2(ENST00000309680):Leu484Pro;KRT1(ENST00000252244):Leu486Arg;KRT1(ENST00000252244):Leu486Pro;KRT1(ENST00000252244):Leu486Gln"]
["KRT40",376,"Leu",497,"KRT10(ENST00000269576):Leu436Pro;KRT17(ENST00000311208):Leu371Pro"]
["KRT5",469,"Thr",538,"KRT6A(ENST00000330722):Thr464Pro;KRT2(ENST00000309680):Thr479Pro;KRT1(ENST00000252244):Thr481Pro"]
["KRT6A",214,"Phe",288,"KRT1(ENST00000252244):Phe231Leu"]
["KRT6A",470,"Glu",544,"KRT5(ENST00000252242):Glu475Gly;KRT5(ENST00000252242):Glu475Lys"]
["KRT6B",401,"Gln",475,"KRT1(ENST00000252244):Gln418His"]
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["KRT6C",413,"Glu",487,"KRT5(ENST00000252242):Glu418Lys"]
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["KRT71",111,"Leu",216,"KRT5(ENST00000252242):Leu149Pro;KRT1(ENST00000252244):Leu161Pro"]
["KRT71",379,"Ala",486,"KRT5(ENST00000252242):Ala417Asp"]
["KRT72",147,"Glu",257,"KRT5(ENST00000252242):Glu190Asp;KRT5(ENST00000252242):Glu190Lys"]
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["KRT73",135,"Gln",238,"KRT6A(ENST00000330722):Gln166Pro;KRT2(ENST00000309680):Gln181Pro"]
["KRT74",130,"Asp",225,"KRT5(ENST00000252242):Asp158Val;KRT5(ENST00000252242):Asp158Tyr;KRT5(ENST00000252242):Asp158Asn"]
["KRT74",450,"Glu",547,"KRT6A(ENST00000330722):Glu473Lys;KRT5(ENST00000252242):Glu478Lys;KRT2(ENST00000309680):Glu488Lys;KRT1(ENST00000252244):Glu490Gly;KRT1(ENST00000252244):Glu490Gln;KRT1(ENST00000252244):Glu490Lys"]
["KRT75",150,"Arg",236,"KRT6A(ENST00000330722):Arg164Pro;KRT6A(ENST00000330722):Arg164Cys;KRT5(ENST00000252242):Arg169Pro;KRT5(ENST00000252242):Arg169Gly"]
["KRT75",385,"Lys",473,"KRT5(ENST00000252242):Lys404Glu"]
["KRT76",176,"Ile",228,"KRT5(ENST00000252242):Ile161Ser;KRT5(ENST00000252242):Ile161Asn"]
["KRT76",453,"Ala",507,"KRT5(ENST00000252242):Ala438Asp;KRT1(ENST00000252244):Ala450Asp;KRT8(ENST00000552150):Ala387Thr"]
["KRT77",167,"Gln",238,"KRT6A(ENST00000330722):Gln166Pro;KRT2(ENST00000309680):Gln181Pro"]
["KRT79",124,"Leu",217,"KRT5(ENST00000252242):Leu150Pro"]
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["KRT8",116,"Arg",232,"KRT5(ENST00000252242):Arg165Ser"]
["KRT81",110,"Ile",239,"KRT6A(ENST00000330722):Ile167Ser;KRT6A(ENST00000330722):Ile167Asn;KRT5(ENST00000252242):Ile172Thr;KRT5(ENST00000252242):Ile172Phe;KRT5(ENST00000252242):Ile172Val;KRT2(ENST00000309680):Ile182Asn"]
["KRT81",118,"Ala",247,"KRT86(ENST00000293525):Ala118Glu;KRT5(ENST00000252242):Ala180Asp;KRT5(ENST00000252242):Ala180Pro;KRT1(ENST00000252244):Ala192Pro"]
["KRT82",131,"Phe",246,"KRT6A(ENST00000330722):Phe174Cys;KRT6A(ENST00000330722):Phe174Ser;KRT6A(ENST00000330722):Phe174Val;KRT6A(ENST00000330722):Phe174Ile;KRT5(ENST00000252242):Phe179Ser;KRT5(ENST00000252242):Phe179Leu;KRT71(ENST00000267119):Phe141Cys;KRT2(ENST00000309680):Phe189Ser;KRT1(ENST00000252244):Phe191Cys;KRT1(ENST00000252244):Phe191Ile"]
["KRT82",480,"Leu",657,"KRT5(ENST00000252242):Leu546Ile"]
["KRT83",139,"Leu",263,"KRT5(ENST00000252242):Leu196Pro;KRT1(ENST00000252244):Leu208Pro"]
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["KRT84",399,"Lys",473,"KRT5(ENST00000252242):Lys404Glu"]
["KRT85",151,"Leu",263,"KRT5(ENST00000252242):Leu196Pro;KRT1(ENST00000252244):Leu208Pro"]
["KRT85",429,"Gly",545,"KRT5(ENST00000252242):Gly476Asp"]
["KRT86",340,"Lys",473,"KRT5(ENST00000252242):Lys404Glu"]
["LAMA1",256,"Arg",273,"LAMA2(ENST00000421865):Arg273Lys"]
["LAMA1",485,"Cys",502,"LAMA2(ENST00000421865):Cys500Tyr"]
["LCK",118,"Lys",164,"LYN(ENST00000519728):Lys120Ile"]
["LDHAL6A",171,"Arg",221,"LDHB(ENST00000396076):Arg172Pro;LDHB(ENST00000396076):Arg172His"]
["LGI3",270,"Arg",276,"LGI4(ENST00000310123):Arg258Pro"]
["LHCGR",348,"Asp",411,"TSHR(ENST00000541158):Asp403Asn"]
["LHCGR",509,"Met",572,"FSHR(ENST00000406846):Met512Ile"]
["LIFR",794,"Lys",817,"OSMR(ENST00000274276):Lys697Thr"]
["LIPC",208,"Arg",239,"LPL(ENST00000311322):Arg197His"]
["LIPG",108,"Ala",136,"LPL(ENST00000311322):Ala98Thr"]
["LIPG",236,"Val",270,"LPL(ENST00000311322):Val227Phe;LPL(ENST00000311322):Val227Ala;LPL(ENST00000311322):Val227Gly"]
["LIPH",270,"Cys",337,"LPL(ENST00000311322):Cys291Tyr"]
["LMNB1",51,"Arg",67,"LMNA(ENST00000368300):Arg50Ser;LMNA(ENST00000368300):Arg50Pro"]
["LMNB1",145,"Lys",161,"LMNA(ENST00000368300):Lys144Thr"]
["LMNB1",289,"Ala",305,"LMNA(ENST00000368300):Ala288Gly"]
["LMNB1",490,"Leu",525,"LMNA(ENST00000368300):Leu489Pro"]
["LMNB2",237,"His",239,"LMNA(ENST00000368300):His222Tyr;LMNA(ENST00000368300):His222Pro"]
["LMNB2",429,"Gly",431,"LMNA(ENST00000368300):Gly411Asp"]
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["LPAR4",311,"Tyr",366,"P2RY11(ENST00000321826):Tyr321His"]
["LPL",157,"Gly",197,"LIPH(ENST00000296252):Gly152Arg"]
["LRP6",240,"Thr",253,"LRP5(ENST00000294304):Thr253Ile"]
["LRP6",494,"Gly",507,"LRP5(ENST00000294304):Gly507Ser"]
["LRP6",1186,"Ala",1199,"LRP5(ENST00000294304):Ala1196Thr"]
["LRP8",17,"Leu",17,"LDLR(ENST00000558518):Leu16Pro"]
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["LRP8",414,"Cys",456,"LDLR(ENST00000558518):Cys392Arg;LDLR(ENST00000558518):Cys392Trp"]
["LRP8",454,"Ala",496,"LDLR(ENST00000558518):Ala431Thr;LDLR(ENST00000558518):Ala431Pro;LDLR(ENST00000558518):Ala431Val"]
["LRP8",592,"Asp",634,"LDLR(ENST00000558518):Asp569Asn;LDLR(ENST00000558518):Asp569Tyr"]
["LRP8",635,"Ala",677,"LDLR(ENST00000558518):Ala612Ser;LDLR(ENST00000558518):Ala612Val"]
["LYN",505,"Glu",561,"SRC(ENST00000373578):Glu527Lys"]
["MAP2K2",125,"Cys",125,"MAP2K1(ENST00000307102):Cys121Ser"]
["MAP2K2",133,"Phe",133,"MAP2K1(ENST00000307102):Phe129Leu"]
["MAT2A",305,"Leu",305,"MAT1A(ENST00000372213):Leu305Pro"]
["MC1R",48,"Leu",59,"MC4R(ENST00000299766):Leu54Pro"]
["MC2R",70,"Asp",95,"MC4R(ENST00000299766):Asp90Asn"]
["MC2R",143,"Thr",168,"MC4R(ENST00000299766):Thr162Ile"]
["MC3R",152,"Tyr",163,"MC4R(ENST00000299766):Tyr157Ser"]
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["MC5R",54,"Asn",67,"MC4R(ENST00000299766):Asn62Ser"]
["MC5R",245,"Gly",260,"MC2R(ENST00000327606):Gly226Arg;MC4R(ENST00000299766):Gly252Ser"]
["MCCC1",132,"Leu",146,"PCCA(ENST00000376285):Leu146Pro"]
["MCHR1",185,"Cys",188,"KISS1R(ENST00000234371):Cys115Trp"]
["MCM8",219,"Ile",300,"MCM4(ENST00000262105):Ile283Thr"]
["MERTK",591,"Lys",626,"AXL(ENST00000301178):Lys540Arg"]
["MMEL1",585,"Pro",773,"MME(ENST00000460393):Pro556Ser"]
["MMP12",87,"Met",145,"MMP13(ENST00000260302):Met91Thr"]
["MMP16",397,"Glu",482,"MMP20(ENST00000260228):Glu352Lys"]
["MMP27",287,"Ala",430,"MMP20(ENST00000260228):Ala304Thr"]
["MPZ",68,"Tyr",80,"SCN2B(ENST00000278947):Tyr69His"]
["MPZL1",107,"Ile",111,"MPZ(ENST00000533357):Ile99Thr"]
["MPZL2",142,"Val",160,"MPZ(ENST00000533357):Val146Gly;MPZ(ENST00000533357):Val146Phe"]
["MRAS",70,"Gly",98,"NRAS(ENST00000369535):Gly60Glu;NRAS(ENST00000369535):Gly60Arg;HRAS(ENST00000451590):Gly60Val;HRAS(ENST00000451590):Gly60Asp;KRAS(ENST00000256078):Gly60Val;KRAS(ENST00000256078):Gly60Arg;KRAS(ENST00000256078):Gly60Ser"]
["MSN",204,"Asn",230,"NF2(ENST00000338641):Asn220Tyr"]
["MST1R",1224,"Val",1300,"MET(ENST00000318493):Val1238Ile"]
["MYBPC1",64,"Pro",161,"MYBPC3(ENST00000545968):Pro161Ser;MYBPC3(ENST00000545968):Pro161Thr"]
["MYBPC1",476,"Arg",596,"MYBPC3(ENST00000545968):Arg589Ser"]
["MYBPC1",1070,"Val",1230,"MYBPC3(ENST00000545968):Val1204Ala"]
["MYBPC2",2,"Pro",2,"MYBPC3(ENST00000545968):Pro2Arg"]
["MYBPC2",497,"Ile",610,"MYBPC3(ENST00000545968):Ile603Val"]
["MYBPC2",574,"Pro",687,"MYBPC3(ENST00000545968):Pro679Ser"]
["MYBPC2",1081,"Trp",1240,"MYBPC3(ENST00000545968):Trp1214Arg"]
["MYBPC2",1112,"Pro",1271,"MYBPC3(ENST00000545968):Pro1245Leu"]
["MYH1",197,"Ala",244,"MYH7(ENST00000355349):Ala196Thr"]
["MYH1",325,"Ser",381,"MYH7(ENST00000355349):Ser322Phe"]
["MYH1",409,"Val",465,"MYH7(ENST00000355349):Val406Met"]
["MYH1",574,"Gly",634,"MYH7(ENST00000355349):Gly571Arg"]
["MYH1",648,"Phe",749,"MYH3(ENST00000583535):Phe645Cys"]
["MYH1",800,"Leu",901,"MYH7(ENST00000355349):Leu796Phe"]
["MYH1",878,"Glu",979,"MYH7(ENST00000355349):Glu874Gln"]
["MYH1",985,"Glu",1086,"MYH7(ENST00000355349):Glu981Lys"]
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["MYH1",1381,"Thr",1482,"MYH6(ENST00000405093):Thr1379Met;MYH7(ENST00000355349):Thr1377Met"]
["MYH1",1757,"Glu",1859,"MYH7(ENST00000355349):Glu1753Lys"]
["MYH1",1808,"Ala",1910,"MYH7(ENST00000355349):Ala1804Thr"]
["MYH10",188,"Thr",236,"MYH7(ENST00000355349):Thr188Asn"]
["MYH10",418,"Val",470,"MYH7(ENST00000355349):Val411Ile"]
["MYH10",520,"Asp",572,"MYH14(ENST00000601313):Asp537Asn"]
["MYH10",738,"Gly",806,"MYH7(ENST00000355349):Gly701Asp;MYH7(ENST00000355349):Gly701Ser"]
["MYH10",804,"Gly",873,"MYH7(ENST00000355349):Gly768Arg;MYH3(ENST00000583535):Gly769Val"]
["MYH10",1093,"Gly",1162,"MYH7(ENST00000355349):Gly1057Asp;MYH7(ENST00000355349):Gly1057Ser"]
["MYH10",1474,"Ala",1544,"MYH7(ENST00000355349):Ala1439Pro;MYH9(ENST00000216181):Ala1436Thr"]
["MYH10",1932,"Arg",2003,"MYH6(ENST00000405093):Arg1899His"]
["MYH11",238,"Ala",291,"MYH7(ENST00000355349):Ala233Ser;MYH2(ENST00000245503):Ala236Thr;MYH3(ENST00000583535):Ala234Thr"]
["MYH11",292,"Tyr",345,"MYH7(ENST00000355349):Tyr287Cys"]
["MYH11",480,"Gln",535,"MYH7(ENST00000355349):Gln475His;MYH7(ENST00000355349):Gln475Lys"]
["MYH11",670,"Lys",762,"MYH7(ENST00000355349):Lys657Gln"]
["MYH11",911,"Ala",1004,"MYH7(ENST00000355349):Ala899Glu"]
["MYH11",1435,"Glu",1529,"MYH9(ENST00000216181):Glu1421Lys"]
["MYH11",1622,"Ala",1716,"MYH7(ENST00000355349):Ala1611Val"]
["MYH13",143,"Tyr",190,"MYH7(ENST00000355349):Tyr142His"]
["MYH13",188,"Asn",235,"MYH7(ENST00000355349):Asn187Lys"]
["MYH13",353,"Lys",410,"MYH7(ENST00000355349):Lys351Glu"]
["MYH13",442,"Val",499,"MYH7(ENST00000355349):Val440Ala;MYH7(ENST00000355349):Val440Met"]
["MYH13",538,"Glu",599,"MYH7(ENST00000355349):Glu536Asp"]
["MYH13",724,"Gln",825,"MYH7(ENST00000355349):Gln720His"]
["MYH13",752,"Ser",853,"MYH7(ENST00000355349):Ser748Pro"]
["MYH13",925,"Glu",1026,"MYH7(ENST00000355349):Glu921Lys"]
["MYH13",971,"Glu",1072,"MYH7(ENST00000355349):Glu967Lys"]
["MYH13",1341,"Arg",1442,"MYH7(ENST00000355349):Arg1337Gln"]
["MYH13",1428,"Glu",1529,"MYH9(ENST00000216181):Glu1421Lys"]
["MYH13",1824,"Arg",1926,"MYH7(ENST00000355349):Arg1820Gln;MYH7(ENST00000355349):Arg1820Trp"]
["MYH14",138,"Ser",166,"MYH7(ENST00000355349):Ser118Leu"]
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["MYH14",450,"Ala",485,"MYH7(ENST00000355349):Ala426Thr"]
["MYH14",524,"Glu",559,"MYH7(ENST00000355349):Glu499Gly;MYH7(ENST00000355349):Glu499Lys"]
["MYH14",825,"Lys",867,"MYH7(ENST00000355349):Lys762Arg"]
["MYH14",1256,"Arg",1298,"MYH7(ENST00000355349):Arg1193His;MYH7(ENST00000355349):Arg1193Ser"]
["MYH14",1506,"Lys",1549,"MYH7(ENST00000355349):Lys1444Glu"]
["MYH14",1861,"Glu",1905,"MYH7(ENST00000355349):Glu1799Lys"]
["MYH15",160,"Tyr",190,"MYH7(ENST00000355349):Tyr142His"]
["MYH15",265,"Phe",310,"MYH7(ENST00000355349):Phe252Cys;MYH7(ENST00000355349):Phe252Ser;MYH7(ENST00000355349):Phe252Leu"]
["MYH15",379,"Lys",426,"MYH7(ENST00000355349):Lys367Asn"]
["MYH15",554,"Lys",605,"MYH6(ENST00000405093):Lys543Arg;MYH7(ENST00000355349):Lys542Arg;MYH7(ENST00000355349):Lys542Thr"]
["MYH15",649,"Lys",737,"MYH7(ENST00000355349):Lys637Glu"]
["MYH15",834,"Met",927,"MYH7(ENST00000355349):Met822Thr;MYH7(ENST00000355349):Met822Val;MYH7(ENST00000355349):Met822Leu"]
["MYH15",1044,"Asp",1137,"MYH7(ENST00000355349):Asp1032Asn"]
["MYH15",1387,"Tyr",1480,"MYH7(ENST00000355349):Tyr1375Cys;MYH7(ENST00000355349):Tyr1375His"]
["MYH15",1676,"Asn",1769,"MYH7(ENST00000355349):Asn1664Lys"]
["MYH15",1937,"Arg",2031,"MYH7(ENST00000355349):Arg1925Gly"]
["MYH2",148,"Arg",195,"MYH7(ENST00000355349):Arg147Ser"]
["MYH2",312,"Asp",367,"MYH7(ENST00000355349):Asp309Gly"]
["MYH2",388,"Ala",444,"MYH7(ENST00000355349):Ala385Val"]
["MYH2",524,"Ile",581,"MYH7(ENST00000355349):Ile521Thr"]
["MYH2",606,"Glu",667,"MYH7(ENST00000355349):Glu603Lys"]
["MYH2",740,"Gln",839,"MYH7(ENST00000355349):Gln734Pro;MYH7(ENST00000355349):Gln734Glu"]
["MYH2",821,"Gln",920,"MYH7(ENST00000355349):Gln815Pro"]
["MYH2",916,"Lys",1015,"MYH7(ENST00000355349):Lys910Gln"]
["MYH2",1256,"Arg",1355,"MYH7(ENST00000355349):Arg1250Trp"]
["MYH2",1356,"Glu",1455,"MYH7(ENST00000355349):Glu1350Lys"]
["MYH2",1683,"Arg",1782,"MYH7(ENST00000355349):Arg1677His"]
["MYH2",1769,"Ala",1869,"MYH7(ENST00000355349):Ala1763Thr"]
["MYH3",162,"Ala",209,"MYH14(ENST00000601313):Ala181Thr"]
["MYH3",267,"Tyr",324,"MYH7(ENST00000355349):Tyr266Cys"]
["MYH3",327,"Ala",385,"MYH7(ENST00000355349):Ala326Pro"]
["MYH3",476,"Gln",535,"MYH7(ENST00000355349):Gln475His;MYH7(ENST00000355349):Gln475Lys"]
["MYH3",546,"Asp",608,"MYH7(ENST00000355349):Asp545Asn"]
["MYH3",734,"Gly",838,"MYH7(ENST00000355349):Gly733Val;MYH7(ENST00000355349):Gly733Glu;MYH7(ENST00000355349):Gly733Arg"]
["MYH3",825,"Val",929,"MYH7(ENST00000355349):Val824Ala;MYH7(ENST00000355349):Val824Leu;MYH7(ENST00000355349):Val824Ile"]
["MYH3",936,"Glu",1040,"MYH7(ENST00000355349):Glu935Val;MYH7(ENST00000355349):Glu935Lys"]
["MYH3",1117,"Glu",1221,"MYH7(ENST00000355349):Glu1116Lys"]
["MYH3",1378,"Thr",1482,"MYH6(ENST00000405093):Thr1379Met;MYH7(ENST00000355349):Thr1377Met"]
["MYH3",1713,"Arg",1817,"MYH7(ENST00000355349):Arg1712Gln;MYH7(ENST00000355349):Arg1712Trp"]
["MYH3",1919,"Asn",2024,"MYH7(ENST00000355349):Asn1918Lys"]
["MYH4",143,"Tyr",190,"MYH7(ENST00000355349):Tyr142His"]
["MYH4",286,"Tyr",341,"MYH7(ENST00000355349):Tyr283Cys;MYH7(ENST00000355349):Tyr283Asp;MYH7(ENST00000355349):Tyr283His;MYH3(ENST00000583535):Tyr284Asp"]
["MYH4",342,"Leu",398,"MYH3(ENST00000583535):Leu340Gln"]
["MYH4",513,"Phe",570,"MYH7(ENST00000355349):Phe510Leu"]
["MYH4",606,"Glu",667,"MYH7(ENST00000355349):Glu603Lys"]
["MYH4",729,"Leu",830,"MYH7(ENST00000355349):Leu725Pro"]
["MYH4",783,"Glu",884,"MYH7(ENST00000355349):Glu779Asp;MYH7(ENST00000355349):Glu779Gln"]
["MYH4",912,"Leu",1013,"MYH7(ENST00000355349):Leu908Val"]
["MYH4",1227,"Glu",1328,"MYH7(ENST00000355349):Glu1223Gln"]
["MYH4",1354,"Glu",1455,"MYH7(ENST00000355349):Glu1350Lys"]
["MYH4",1625,"Asp",1726,"MYH3(ENST00000583535):Asp1622Ala"]
["MYH4",1756,"Glu",1858,"MYH7(ENST00000355349):Glu1752Val;MYH7(ENST00000355349):Glu1752Lys"]
["MYH4",1875,"Leu",1977,"MYH2(ENST00000245503):Leu1877Pro"]
["MYH6",149,"Glu",197,"MYH14(ENST00000601313):Glu169Lys"]
["MYH6",288,"Tyr",345,"MYH7(ENST00000355349):Tyr287Cys"]
["MYH6",438,"Asn",496,"MYH7(ENST00000355349):Asn437Asp"]
["MYH6",500,"Glu",559,"MYH7(ENST00000355349):Glu499Gly;MYH7(ENST00000355349):Glu499Lys"]
["MYH6",675,"Ile",778,"MYH7(ENST00000355349):Ile673Ser"]
["MYH6",708,"Arg",811,"MYH11(ENST00000396324):Arg719Gln;MYH9(ENST00000216181):Arg705His"]
["MYH6",849,"Lys",952,"MYH7(ENST00000355349):Lys847Glu"]
["MYH6",923,"Glu",1026,"MYH7(ENST00000355349):Glu921Lys"]
["MYH6",1122,"Glu",1225,"MYH7(ENST00000355349):Glu1120Lys"]
["MYH6",1439,"Ala",1542,"MYH7(ENST00000355349):Ala1437Pro"]
["MYH6",1496,"His",1599,"MYH7(ENST00000355349):His1494Leu"]
["MYH6",1810,"Gly",1914,"MYH7(ENST00000355349):Gly1808Ser"]
["MYH6",1908,"Ala",2012,"MYH7(ENST00000355349):Ala1906Gly"]
["MYH7",538,"Cys",601,"MYH6(ENST00000405093):Cys539Arg"]
["MYH7",1455,"Glu",1560,"MYH6(ENST00000405093):Glu1457Lys"]
["MYH7B",149,"Arg",156,"MYH2(ENST00000245503):Arg109His"]
["MYH7B",275,"Phe",288,"MYH7(ENST00000355349):Phe230Ser"]
["MYH7B",419,"Glu",433,"MYH7(ENST00000355349):Glu374Val;MYH3(ENST00000583535):Glu375Lys"]
["MYH7B",489,"Asn",503,"MYH7(ENST00000355349):Asn444Ser;MYH7(ENST00000355349):Asn444Thr"]
["MYH7B",551,"Ile",566,"MYH7(ENST00000355349):Ile506Thr;MYH7(ENST00000355349):Ile506Phe"]
["MYH7B",755,"Arg",811,"MYH11(ENST00000396324):Arg719Gln;MYH9(ENST00000216181):Arg705His"]
["MYH7B",927,"Val",983,"MYH7(ENST00000355349):Val878Ala;MYH7(ENST00000355349):Val878Met"]
["MYH7B",958,"Ile",1014,"MYH7(ENST00000355349):Ile909Met"]
["MYH7B",1123,"Gln",1179,"MYH3(ENST00000583535):Gln1075Pro"]
["MYH7B",1399,"Glu",1455,"MYH7(ENST00000355349):Glu1350Lys"]
["MYH7B",1659,"Glu",1715,"MYH7(ENST00000355349):Glu1610Gln"]
["MYH8",62,"Val",107,"MYH7(ENST00000355349):Val59Ile"]
["MYH8",152,"Glu",197,"MYH14(ENST00000601313):Glu169Lys"]
["MYH8",325,"Ser",381,"MYH7(ENST00000355349):Ser322Phe"]
["MYH8",377,"Glu",433,"MYH7(ENST00000355349):Glu374Val;MYH3(ENST00000583535):Glu375Lys"]
["MYH8",516,"Phe",573,"MYH7(ENST00000355349):Phe513Cys"]
["MYH8",645,"Ser",747,"MYH7(ENST00000355349):Ser642Leu"]
["MYH8",737,"Gln",839,"MYH7(ENST00000355349):Gln734Pro;MYH7(ENST00000355349):Gln734Glu"]
["MYH8",871,"Ala",973,"MYH7(ENST00000355349):Ala868Pro"]
["MYH8",933,"Glu",1035,"MYH7(ENST00000355349):Glu930Gln;MYH7(ENST00000355349):Glu930Lys"]
["MYH8",1261,"Glu",1363,"MYH9(ENST00000216181):Glu1256Lys"]
["MYH8",1380,"Thr",1482,"MYH6(ENST00000405093):Thr1379Met;MYH7(ENST00000355349):Thr1377Met"]
["MYH8",1650,"Gln",1752,"MYH7(ENST00000355349):Gln1647His"]
["MYH8",1804,"Glu",1907,"MYH7(ENST00000355349):Glu1801Gly;MYH7(ENST00000355349):Glu1801Lys"]
["MYH9",113,"Tyr",165,"MYH7(ENST00000355349):Tyr117Phe"]
["MYH9",297,"Tyr",366,"MYH7(ENST00000355349):Tyr308Cys;MYH7(ENST00000355349):Tyr308Asn"]
["MYH9",381,"Asn",450,"MYH7(ENST00000355349):Asn391Thr"]
["MYH9",657,"Leu",763,"MYH7(ENST00000355349):Leu658Val"]
["MYH9",705,"Arg",811,"MYH11(ENST00000396324):Arg719Gln"]
["MYH9",1191,"Arg",1298,"MYH7(ENST00000355349):Arg1193His;MYH7(ENST00000355349):Arg1193Ser"]
["MYH9",1355,"Leu",1462,"MYH7(ENST00000355349):Leu1357Pro"]
["MYL4",145,"Glu",158,"MYL3(ENST00000395869):Glu143Lys"]
["MYO1F",117,"Thr",147,"MYO1E(ENST00000288235):Thr119Ile"]
["MYO5A",168,"Gly",168,"MYO5B(ENST00000285039):Gly168Arg"]
["NAALAD2",347,"Asn",508,"TFR2(ENST00000462107):Asn412Ile"]
["NAPSA",148,"Gly",168,"CTSD(ENST00000236671):Gly149Val"]
["NEFL",100,"Arg",130,"GFAP(ENST00000586793):Arg79Leu;GFAP(ENST00000586793):Arg79Pro;GFAP(ENST00000586793):Arg79His;GFAP(ENST00000586793):Arg79Cys;GFAP(ENST00000586793):Arg79Gly;GFAP(ENST00000586793):Arg79Ser"]
["NEFL",299,"Arg",333,"GFAP(ENST00000586793):Arg276Leu;GFAP(ENST00000586793):Arg276Cys"]
["NEUROD6",103,"Glu",136,"NEUROD2(ENST00000302584):Glu130Gln;NEUROD1(ENST00000295108):Glu110Lys"]
["NFIB",55,"Arg",99,"NFIX(ENST00000397661):Arg54Pro"]
["NFIX",121,"Arg",166,"NFIA(ENST00000371189):Arg166Cys"]
["NIPAL3",213,"Gly",306,"NIPAL4(ENST00000311946):Gly297Arg"]
["NLRP11",718,"Cys",937,"NLRP7(ENST00000588756):Cys761Tyr"]
["NLRP12",363,"Leu",481,"NLRP3(ENST00000336119):Leu371Met"]
["NLRP13",1013,"Leu",1198,"NLRP7(ENST00000588756):Leu964Pro"]
["NLRP14",307,"Thr",460,"NLRP3(ENST00000336119):Thr350Met"]
["NLRP2",902,"Leu",1113,"NLRP7(ENST00000588756):Leu880Ser"]
["NLRP4",497,"Ile",689,"NLRP3(ENST00000336119):Ile574Phe;NLRP3(ENST00000336119):Ile574Ser"]
["NLRP7",256,"Asp",411,"NLRP3(ENST00000336119):Asp305Asn;NLRP3(ENST00000336119):Asp305His;NLRP3(ENST00000336119):Asp305Ala;NLRP3(ENST00000336119):Asp305Gly"]
["NLRP8",986,"Leu",1198,"NLRP7(ENST00000588756):Leu964Pro"]
["NLRP9",368,"Tyr",553,"NLRP3(ENST00000336119):Tyr443His"]
["NOTCH1",273,"Val",295,"NOTCH3(ENST00000263388):Val252Met"]
["NOTCH1",387,"Cys",409,"NOTCH3(ENST00000263388):Cys366Trp;NOTCH3(ENST00000263388):Cys366Arg"]
["NOTCH1",1180,"Cys",1206,"NOTCH3(ENST00000263388):Cys1119Tyr"]
["NOTCH2",62,"Cys",77,"NOTCH3(ENST00000263388):Cys76Trp;NOTCH3(ENST00000263388):Cys76Tyr;NOTCH3(ENST00000263388):Cys76Arg;NOTCH3(ENST00000263388):Cys76Ser"]
["NOTCH2",556,"Cys",575,"NOTCH3(ENST00000263388):Cys531Ser;NOTCH3(ENST00000263388):Cys531Gly"]
["NOTCH2",1171,"Tyr",1193,"NOTCH3(ENST00000263388):Tyr1106Cys"]
["NOTCH2",1522,"Cys",1586,"NOTCH1(ENST00000277541):Cys1549Tyr"]
["NOTCH3",1593,"Gln",1725,"NOTCH1(ENST00000277541):Gln1687His"]
["NOV",333,"Cys",402,"WISP3(ENST00000361714):Cys355Tyr"]
["NPC1L1",558,"Gly",577,"NPC1(ENST00000269228):Gly549Val"]
["NPC1L1",696,"Leu",715,"NPC1(ENST00000269228):Leu684Phe"]
["NPC1L1",1120,"Phe",1142,"NPC1(ENST00000269228):Phe1079Ser;NPC1(ENST00000269228):Phe1079Leu"]
["NPFFR1",236,"Tyr",309,"TACR3(ENST00000304883):Tyr267Asn"]
["NPR1",658,"His",765,"GUCY2D(ENST00000254854):His664Pro"]
["NPR1",976,"His",1091,"GUCY2D(ENST00000254854):His980Leu"]
["NPR2",650,"Cys",773,"GUCY2D(ENST00000254854):Cys672Tyr"]
["NR1D1",134,"Val",169,"VDR(ENST00000550325):Val76Met"]
["NR1D1",444,"Thr",499,"THRB(ENST00000396671):Thr277Ile;THRB(ENST00000396671):Thr277Ala"]
["NR1D2",480,"Gly",572,"THRB(ENST00000396671):Gly347Ala;THRB(ENST00000396671):Gly347Glu;THRB(ENST00000396671):Gly347Trp;THRB(ENST00000396671):Gly347Arg;RARB(ENST00000330688):Gly296Ala"]
["NR1H2",450,"Pro",686,"PPARG(ENST00000287820):Pro495Leu;THRB(ENST00000396671):Pro453Leu;THRB(ENST00000396671):Pro453His;THRB(ENST00000396671):Pro453Ser;THRB(ENST00000396671):Pro453Ala;THRB(ENST00000396671):Pro453Thr"]
["NR1H3",339,"Val",573,"THRB(ENST00000396671):Val348Glu"]
["NR1H4",340,"Glu",533,"PPARG(ENST00000287820):Glu352Gln;THRB(ENST00000396671):Glu311Lys"]
["NR1I2",316,"Lys",528,"PPARG(ENST00000287820):Lys347Thr"]
["NR2F1",212,"Asn",387,"NR2F2(ENST00000394166):Asn205Ile"]
["NR4A2",556,"Leu",970,"NR3C2(ENST00000358102):Leu924Pro"]
["NRAS",26,"Asn",64,"KRAS(ENST00000256078):Asn26Ile"]
["NTRK2",616,"Ile",649,"NTRK1(ENST00000524377):Ile572Ser"]
["NTRK2",756,"Gly",806,"NTRK1(ENST00000524377):Gly714Ser;NTRK1(ENST00000524377):Gly714Asp"]
["NTRK3",760,"Leu",809,"NTRK1(ENST00000524377):Leu717Arg"]
["OLFM1",347,"Tyr",475,"MYOC(ENST00000037502):Tyr371Asp;MYOC(ENST00000037502):Tyr371His"]
["OLFM3",69,"Val",99,"MYOC(ENST00000037502):Val53Ala"]
["OPN1LW",37,"Arg",46,"RHO(ENST00000296271):Arg21Cys"]
["OPN1LW",142,"Trp",177,"RHO(ENST00000296271):Trp126Leu"]
["OPN1MW",196,"Pro",233,"RHO(ENST00000296271):Pro180Thr;RHO(ENST00000296271):Pro180Ala;RHO(ENST00000296271):Pro180Ser"]
["OPN1MW",307,"Pro",356,"RHO(ENST00000296271):Pro291Arg"]
["OPN1SW",65,"Leu",119,"RHO(ENST00000296271):Leu68Arg"]
["OPN1SW",107,"Cys",161,"RHO(ENST00000296271):Cys110Arg;RHO(ENST00000296271):Cys110Gly;RHO(ENST00000296271):Cys110Tyr;RHO(ENST00000296271):Cys110Ser;RHO(ENST00000296271):Cys110Phe"]
["OPN3",172,"Pro",224,"RHO(ENST00000296271):Pro171Ser;RHO(ENST00000296271):Pro171Gln;RHO(ENST00000296271):Pro171Leu"]
["OPN4",354,"Ala",364,"RHO(ENST00000296271):Ala299Thr"]
["OPN5",211,"Pro",268,"RHO(ENST00000296271):Pro215Thr;RHO(ENST00000296271):Pro215Leu"]
["OTX1",106,"Arg",151,"CRX(ENST00000221996):Arg115Gln"]
["OXGR1",288,"Arg",352,"P2RY11(ENST00000321826):Arg307Trp"]
["PAH",243,"Arg",329,"TH(ENST00000381178):Arg319Pro"]
["PAX2",31,"Arg",31,"PAX6(ENST00000419022):Arg19Pro"]
["PAX2",140,"Arg",154,"PAX6(ENST00000419022):Arg142Pro;PAX6(ENST00000419022):Arg142His;PAX6(ENST00000419022):Arg142Cys;PAX8(ENST00000429538):Arg133Gln;PAX4(ENST00000341640):Arg121Trp"]
["PAX4",210,"Phe",298,"PAX6(ENST00000419022):Phe272Ser"]
["PAX5",29,"Asn",29,"PAX6(ENST00000419022):Asn17Lys;PAX6(ENST00000419022):Asn17Ser"]
["PAX6",38,"Arg",50,"PAX4(ENST00000341640):Arg31Leu"]
["PAX6",101,"Ile",113,"PAX9(ENST00000361487):Ile87Phe;PAX8(ENST00000429538):Ile92Thr"]
["PAX8",43,"Arg",50,"PAX6(ENST00000419022):Arg38Gln;PAX6(ENST00000419022):Arg38Trp;PAX6(ENST00000419022):Arg38Gly;PAX4(ENST00000341640):Arg31Leu"]
["PAX9",19,"Arg",31,"PAX6(ENST00000419022):Arg19Pro"]
["PAX9",78,"Val",104,"PAX6(ENST00000419022):Val92Gly;PAX6(ENST00000419022):Val92Ala"]
["PCCB",218,"Gly",244,"MCCC2(ENST00000340941):Gly214Ala"]
["PCSK2",259,"Pro",291,"PCSK1(ENST00000311106):Pro258Thr"]
["PDE11A",402,"Asp",447,"PDE6B(ENST00000496514):Asp252Asn"]
["PDE11A",752,"Ile",856,"PDE6C(ENST00000371447):Ile649Thr"]
["PDE5A",619,"Phe",773,"PDE6B(ENST00000496514):Phe563Tyr"]
["PDE6A",622,"His",830,"PDE6B(ENST00000496514):His620Arg"]
["PDE6B",342,"Ser",541,"PDE6A(ENST00000255266):Ser344Arg"]
["PDE6C",401,"Gly",598,"PDE6B(ENST00000496514):Gly397Arg"]
["PDGFRA",588,"Phe",671,"KIT(ENST00000288135):Phe584Leu;KIT(ENST00000288135):Phe584Cys"]
["PDGFRA",865,"Glu",952,"KIT(ENST00000288135):Glu839Lys;CSF1R(ENST00000286301):Glu825Lys"]
["PDGFRB",667,"Leu",743,"KIT(ENST00000288135):Leu656Pro"]
["PDGFRB",846,"Gly",925,"KIT(ENST00000288135):Gly812Val"]
["PDHA2",146,"Gly",201,"BCKDHA(ENST00000269980):Gly188Trp"]
["PDHB",57,"Gly",95,"BCKDHB(ENST00000320393):Gly95Ala"]
["PGA3",297,"Ile",337,"CTSD(ENST00000236671):Ile315Asn"]
["PGAM4",62,"Arg",62,"BPGM(ENST00000393132):Arg62Gln"]
["PGR",929,"Leu",1026,"NR3C1(ENST00000231509):Leu774Pro"]
["PIGG",222,"Gly",244,"PIGO(ENST00000378617):Gly238Asp"]
["PIK3CB",127,"Gly",156,"PIK3CA(ENST00000263967):Gly118Asp"]
["PIK3R2",484,"Phe",504,"PIK3R1(ENST00000521381):Phe487Ser"]
["PITX1",133,"Val",145,"PITX2(ENST00000306732):Val136Phe;PITX2(ENST00000306732):Val136Leu"]
["PLA1A",224,"Gly",265,"LPL(ENST00000311322):Gly222Glu"]
["PLOD1",591,"Gly",628,"PLOD2(ENST00000282903):Gly622Val;PLOD2(ENST00000282903):Gly622Cys"]
["PMS1",32,"Ser",46,"PMS2(ENST00000265849):Ser46Ile;PMS2(ENST00000265849):Ser46Asn"]
["PNLIP",302,"Cys",337,"LPL(ENST00000311322):Cys291Tyr"]
["PNLIPRP1",167,"Leu",195,"LPL(ENST00000311322):Leu155Pro"]
["PNLIPRP3",169,"Leu",200,"LPL(ENST00000311322):Leu160Phe"]
["PNLIPRP3",403,"Leu",452,"LPL(ENST00000311322):Leu392Val"]
["POC1A",107,"Arg",299,"POC1B(ENST00000313546):Arg106Pro"]
["POMT1",277,"Tyr",323,"POMT2(ENST00000261534):Tyr294Cys"]
["POMT2",145,"Arg",150,"POMT1(ENST00000372228):Arg105Cys;POMT1(ENST00000372228):Arg105His"]
["PPARA",180,"Glu",259,"PPARG(ENST00000287820):Glu217Lys"]
["PPARD",100,"Arg",193,"VDR(ENST00000550325):Arg100Gln;PPARG(ENST00000287820):Arg165Thr"]
["PPARG",334,"Phe",515,"VDR(ENST00000550325):Phe301Cys"]
["PPP2R5A",200,"Asp",259,"PPP2R5D(ENST00000485511):Asp251Val"]
["PRKAG3",267,"His",348,"PRKAG2(ENST00000287878):His344Pro;PRKAG2(ENST00000287878):His344Tyr"]
["PRKAR1B",209,"Thr",232,"PRKAR1A(ENST00000589228):Thr209Ala"]
["PRKCA",117,"His",117,"PRKCG(ENST00000263431):His116Pro"]
["PRKCQ",571,"Glu",622,"PRKCE(ENST00000306156):Glu599Lys"]
["PROC",109,"Gly",134,"F10(ENST00000375559):Gly99Arg"]
["PROC",342,"Trp",411,"F7(ENST00000375581):Trp344Arg;F7(ENST00000375581):Trp344Gly"]
["PROKR1",279,"Arg",279,"PROKR2(ENST00000546004):Arg270His;PROKR2(ENST00000546004):Arg270Cys"]
["PROZ",95,"Glu",99,"F10(ENST00000375559):Glu72Gln"]
["PROZ",324,"Gly",410,"F7(ENST00000375581):Gly343Ser;F10(ENST00000375559):Gly363Ser"]
["PRPF4",298,"Ser",320,"PAFAH1B1(ENST00000397195):Ser167Pro;PAFAH1B1(ENST00000397195):Ser167Phe"]
["PRPH",300,"Arg",327,"GFAP(ENST00000586793):Arg270Pro"]
["PRPH",368,"Leu",395,"DES(ENST00000373960):Leu377Pro"]
["PRTN3",40,"Pro",46,"ELANE(ENST00000590230):Pro42Leu"]
["PSEN1",142,"Val",164,"PSEN2(ENST00000366783):Val148Ile"]
["PSEN1",222,"Gln",244,"PSEN2(ENST00000366783):Gln228Leu"]
["PSEN2",245,"Lys",261,"PSEN1(ENST00000324501):Lys239Glu;PSEN1(ENST00000324501):Lys239Asn"]
["PSEN2",281,"Ala",297,"PSEN1(ENST00000324501):Ala275Val"]
["PTCH2",753,"Gln",821,"PTCH1(ENST00000331920):Gln816Arg"]
["PTCH2",1000,"Thr",1069,"PTCH1(ENST00000331920):Thr1064Met"]
["PTK2",296,"Phe",412,"JAK3(ENST00000458235):Phe292Val"]
["PTPN6",70,"Ala",72,"PTPN11(ENST00000351677):Ala72Thr;PTPN11(ENST00000351677):Ala72Pro;PTPN11(ENST00000351677):Ala72Ser;PTPN11(ENST00000351677):Ala72Asp;PTPN11(ENST00000351677):Ala72Gly"]
["PTPN6",403,"Gly",410,"PTPN11(ENST00000351677):Gly409Ala"]
["PYGB",51,"Asp",51,"PYGM(ENST00000164139):Asp51Gly"]
["PYGB",339,"Asn",339,"PYGL(ENST00000216392):Asn339Ser"]
["PYGL",93,"Gly",93,"PYGM(ENST00000164139):Gly93Val"]
["PYGL",814,"Ser",814,"PYGM(ENST00000164139):Ser814Asn"]
["PYGM",675,"Ser",675,"PYGL(ENST00000216392):Ser675Leu;PYGL(ENST00000216392):Ser675Thr"]
["RAB19",88,"Arg",94,"RAB11A(ENST00000261890):Arg82Cys"]
["RAB3A",154,"Ala",213,"RAB12(ENST00000329286):Ala174Thr"]
["RAC3",57,"Asp",103,"RAC2(ENST00000249071):Asp57Asn"]
["RAF1",358,"Gly",552,"BRAF(ENST00000288602):Gly466Val;BRAF(ENST00000288602):Gly466Ala;BRAF(ENST00000288602):Gly466Glu;BRAF(ENST00000288602):Gly466Arg"]
["RAF1",487,"Phe",684,"BRAF(ENST00000288602):Phe595Leu;BRAF(ENST00000288602):Phe595Ser"]
["RALB",160,"Lys",187,"KRAS(ENST00000256078):Lys147Arg;KRAS(ENST00000256078):Lys147Glu"]
["RAP1B",59,"Ala",94,"RIT1(ENST00000368322):Ala94Ser;RIT1(ENST00000368322):Ala94Pro;RIT1(ENST00000368322):Ala94Thr"]
["RARA",261,"Leu",527,"VDR(ENST00000550325):Leu313Arg"]
["RARB",101,"Cys",187,"PPARG(ENST00000287820):Cys159Tyr"]
["RARB",402,"Leu",687,"THRB(ENST00000396671):Leu454Ser;THRB(ENST00000396671):Leu454Val"]
["RARG",126,"Cys",206,"VDR(ENST00000550325):Cys110Trp"]
["RASA4B",473,"Arg",541,"RASA2(ENST00000286364):Arg511Cys"]
["RDH16",129,"Asp",209,"RDH5(ENST00000257895):Asp128Asn"]
["RDH16",281,"Tyr",369,"RDH5(ENST00000257895):Tyr281His;HSD11B2(ENST00000326152):Tyr338His"]
["RHCE",31,"Phe",31,"RHD(ENST00000328664):Phe31Ile"]
["RHCG",234,"Ser",236,"RHAG(ENST00000371175):Ser224Arg"]
["RHOH",60,"Ala",105,"RAC3(ENST00000306897):Ala59Gly"]
["RHOQ",177,"Glu",237,"CDC42(ENST00000344548):Glu171Lys"]
["ROBO1",291,"Pro",293,"ROBO2(ENST00000487694):Pro270Ala"]
["ROM1",160,"Asp",160,"PRPH2(ENST00000230381):Asp157Asn"]
["ROM1",337,"Ala",341,"PRPH2(ENST00000230381):Ala337Thr"]
["RORB",17,"Ser",38,"RORC(ENST00000318247):Ser38Leu"]
["RPGRIP1L",829,"Ile",885,"RPGRIP1(ENST00000400017):Ile838Val"]
["RRAS2",159,"Lys",187,"KRAS(ENST00000256078):Lys147Arg;KRAS(ENST00000256078):Lys147Glu"]
["RSPO2",69,"Arg",71,"RSPO4(ENST00000217260):Arg64Cys"]
["RUNX1",175,"Leu",212,"RUNX2(ENST00000371438):Leu199Phe"]
["RYR1",165,"Gly",180,"RYR2(ENST00000366574):Gly178Ala"]
["RYR1",2252,"Asp",2277,"RYR2(ENST00000366574):Asp2216His;RYR2(ENST00000366574):Asp2216Val"]
["RYR1",2532,"Ala",2560,"RYR2(ENST00000366574):Ala2498Val"]
["RYR1",4031,"Glu",4072,"RYR2(ENST00000366574):Glu3987Lys"]
["RYR1",4792,"Tyr",4850,"RYR2(ENST00000366574):Tyr4721Cys"]
["RYR2",233,"Val",235,"RYR1(ENST00000359596):Val218Ile"]
["RYR2",646,"Thr",655,"RYR1(ENST00000359596):Thr634Arg"]
["RYR2",2112,"Ser",2173,"RYR1(ENST00000359596):Ser2148Phe"]
["RYR2",2250,"Asn",2311,"RYR1(ENST00000359596):Asn2283His"]
["RYR2",2833,"Leu",2896,"RYR1(ENST00000359596):Leu2867Gln"]
["RYR2",4575,"Leu",4704,"RYR1(ENST00000359596):Leu4647Pro"]
["RYR2",4754,"Arg",4883,"RYR1(ENST00000359596):Arg4825Cys;RYR1(ENST00000359596):Arg4825Pro"]
["RYR3",12,"Ile",12,"RYR2(ENST00000366574):Ile11Ser"]
["RYR3",113,"His",125,"RYR1(ENST00000359596):His110Tyr"]
["RYR3",1038,"Arg",1060,"RYR2(ENST00000366574):Arg1051Pro"]
["RYR3",1088,"Tyr",1111,"RYR1(ENST00000359596):Tyr1088Cys"]
["RYR3",2066,"His",2229,"RYR2(ENST00000366574):His2168Gln;RYR1(ENST00000359596):His2204Gln"]
["RYR3",2482,"Leu",2647,"RYR1(ENST00000359596):Leu2619Pro"]
["RYR3",2999,"Pro",3167,"RYR1(ENST00000359596):Pro3138Leu"]
["RYR3",3895,"Met",4084,"RYR2(ENST00000366574):Met3999Val;RYR2(ENST00000366574):Met3999Leu;RYR2(ENST00000366574):Met3999Thr"]
["RYR3",3993,"Asn",4182,"RYR2(ENST00000366574):Asn4097Ser"]
["RYR3",4512,"Ala",4736,"RYR2(ENST00000366574):Ala4607Pro"]
["RYR3",4656,"Leu",4882,"RYR1(ENST00000359596):Leu4824Pro"]
["RYR3",4759,"Val",4985,"RYR1(ENST00000359596):Val4927Phe"]
["SAMD9L",689,"Arg",695,"SAMD9(ENST00000379958):Arg685Gln"]
["SCARB2",88,"Pro",95,"CD36(ENST00000435819):Pro90Ser"]
["SCN10A",183,"Thr",197,"SCN2A(ENST00000357398):Thr185Ile;SCN5A(ENST00000413689):Thr187Ile"]
["SCN10A",218,"Arg",233,"SCN8A(ENST00000354534):Arg223Gly;SCN8A(ENST00000354534):Arg223Ser;SCN4A(ENST00000435607):Arg222Trp;SCN1A(ENST00000303395):Arg219Ser;SCN1A(ENST00000303395):Arg219Thr;SCN1A(ENST00000303395):Arg219Gly;SCN11A(ENST00000302328):Arg225Cys"]
["SCN10A",347,"Leu",413,"SCN1A(ENST00000303395):Leu373Trp"]
["SCN10A",651,"Trp",814,"SCN1A(ENST00000303395):Trp754Leu"]
["SCN10A",760,"Leu",925,"SCN1A(ENST00000303395):Leu863Trp;SCN5A(ENST00000413689):Leu812Gln"]
["SCN10A",848,"Gly",1020,"SCN1A(ENST00000303395):Gly950Glu;SCN5A(ENST00000413689):Gly897Glu"]
["SCN10A",874,"Met",1048,"SCN1A(ENST00000303395):Met976Ile;SCN1A(ENST00000303395):Met976Thr;SCN1A(ENST00000303395):Met976Lys"]
["SCN10A",1222,"Asp",1433,"SCN1A(ENST00000303395):Asp1288Gly;SCN1A(ENST00000303395):Asp1288His;SCN5A(ENST00000413689):Asp1275Tyr;SCN5A(ENST00000413689):Asp1275Asn"]
["SCN10A",1259,"Arg",1470,"SCN2A(ENST00000357398):Arg1315Lys;SCN1A(ENST00000303395):Arg1325Thr"]
["SCN10A",1360,"Leu",1573,"SCN5A(ENST00000413689):Leu1412Phe"]
["SCN10A",1451,"Ser",1664,"SCN1A(ENST00000303395):Ser1516Leu;SCN1A(ENST00000303395):Ser1516Trp"]
["SCN10A",1533,"Tyr",1746,"SCN1A(ENST00000303395):Tyr1598Phe"]
["SCN10A",1605,"Pro",1818,"SCN1A(ENST00000303395):Pro1668Arg;SCN1A(ENST00000303395):Pro1668Ala"]
["SCN10A",1639,"Asp",1852,"SCN1A(ENST00000303395):Asp1702Glu;SCN1A(ENST00000303395):Asp1702Tyr;SCN1A(ENST00000303395):Asp1702His"]
["SCN10A",1701,"Phe",1915,"SCN1A(ENST00000303395):Phe1765Leu;SCN1A(ENST00000303395):Phe1765Cys;SCN1A(ENST00000303395):Phe1765Ile"]
["SCN10A",1786,"Ile",2000,"SCN5A(ENST00000413689):Ile1836Thr"]
["SCN11A",109,"Leu",117,"SCN1A(ENST00000303395):Leu108Pro"]
["SCN11A",271,"Gly",279,"SCN1A(ENST00000303395):Gly265Trp"]
["SCN11A",343,"Asp",406,"SCN1A(ENST00000303395):Asp366Glu;SCN1A(ENST00000303395):Asp366His;SCN5A(ENST00000413689):Asp356Tyr;SCN5A(ENST00000413689):Asp356Asn"]
["SCN11A",525,"Ala",775,"SCN5A(ENST00000413689):Ala665Ser"]
["SCN11A",690,"Leu",941,"SCN8A(ENST00000354534):Leu864Val;SCN4A(ENST00000435607):Leu689Phe;SCN4A(ENST00000435607):Leu689Val;SCN4A(ENST00000435607):Leu689Ile;SCN1A(ENST00000303395):Leu879Arg;SCN1A(ENST00000303395):Leu879Pro;SCN5A(ENST00000413689):Leu828Phe;SCN5A(ENST00000413689):Leu828Val"]
["SCN11A",838,"Arg",1091,"SCN5A(ENST00000413689):Arg965Leu;SCN5A(ENST00000413689):Arg965His;SCN5A(ENST00000413689):Arg965Cys"]
["SCN11A",1144,"Lys",1458,"SCN4A(ENST00000435607):Lys1126Ile;SCN1A(ENST00000303395):Lys1313Ile;SCN1A(ENST00000303395):Lys1313Thr"]
["SCN11A",1197,"Val",1511,"SCN1A(ENST00000303395):Val1366Leu;SCN1A(ENST00000303395):Val1366Ile;SCN5A(ENST00000413689):Val1353Met"]
["SCN11A",1317,"Lys",1640,"SCN1A(ENST00000303395):Lys1492Asn"]
["SCN11A",1343,"Lys",1666,"SCN5A(ENST00000413689):Lys1505Asn"]
["SCN11A",1484,"Arg",1807,"SCN8A(ENST00000354534):Arg1638His;SCN1A(ENST00000303395):Arg1657His;SCN1A(ENST00000303395):Arg1657Cys;SCN5A(ENST00000413689):Arg1644His;SCN5A(ENST00000413689):Arg1644Cys"]
["SCN11A",1554,"Asp",1877,"SCN1A(ENST00000303395):Asp1727Gly;SCN1A(ENST00000303395):Asp1727Tyr;SCN5A(ENST00000413689):Asp1714Gly;SCN5A(ENST00000413689):Asp1714Asn"]
["SCN11A",1649,"Phe",1981,"SCN1A(ENST00000303395):Phe1831Cys;SCN1A(ENST00000303395):Phe1831Ser"]
["SCN1A",133,"Leu",142,"SCN5A(ENST00000413689):Leu136Pro"]
["SCN1A",258,"Leu",272,"SCN2A(ENST00000357398):Leu259Ile"]
["SCN1A",391,"Thr",431,"SCN2A(ENST00000357398):Thr393Lys"]
["SCN1A",449,"Glu",489,"SCN5A(ENST00000413689):Glu439Lys"]
["SCN1A",872,"Ser",934,"SCN4A(ENST00000435607):Ser682Trp;SCN2A(ENST00000357398):Ser863Phe"]
["SCN1A",897,"Leu",959,"SCN5A(ENST00000413689):Leu846Arg"]
["SCN1A",1232,"Ser",1377,"SCN5A(ENST00000413689):Ser1219Asn"]
["SCN1A",1352,"Leu",1497,"SCN8A(ENST00000354534):Leu1332Arg;SCN2A(ENST00000357398):Leu1342Pro"]
["SCN1A",1390,"Val",1537,"SCN5A(ENST00000413689):Val1378Met"]
["SCN1A",1508,"Tyr",1656,"SCN2A(ENST00000357398):Tyr1498His;SCN5A(ENST00000413689):Tyr1495Ser"]
["SCN1A",1599,"Tyr",1747,"SCN2A(ENST00000357398):Tyr1589Cys"]
["SCN1A",1730,"Leu",1880,"SCN5A(ENST00000413689):Leu1717Pro"]
["SCN1A",1774,"Phe",1924,"SCN8A(ENST00000354534):Phe1754Ser;SCN5A(ENST00000413689):Phe1760Cys"]
["SCN2A",30,"Ala",33,"SCN5A(ENST00000413689):Ala29Val"]
["SCN2A",109,"Leu",117,"SCN1A(ENST00000303395):Leu108Pro"]
["SCN2A",218,"Thr",231,"SCN1A(ENST00000303395):Thr217Lys"]
["SCN2A",345,"Gly",383,"SCN1A(ENST00000303395):Gly343Asp;SCN1A(ENST00000303395):Gly343Cys;SCN1A(ENST00000303395):Gly343Arg;SCN1A(ENST00000303395):Gly343Ser"]
["SCN2A",417,"Ile",455,"SCN1A(ENST00000303395):Ile415Lys"]
["SCN2A",621,"Arg",668,"SCN1A(ENST00000303395):Arg618Cys"]
["SCN2A",777,"Ala",846,"SCN1A(ENST00000303395):Ala786Thr;SCN5A(ENST00000413689):Ala735Val;SCN5A(ENST00000413689):Ala735Glu;SCN5A(ENST00000413689):Ala735Thr"]
["SCN2A",896,"Ala",967,"SCN8A(ENST00000354534):Ala890Thr;SCN4A(ENST00000435607):Ala715Ser;SCN1A(ENST00000303395):Ala905Asp;SCN1A(ENST00000303395):Ala905Pro;SCN1A(ENST00000303395):Ala905Thr"]
["SCN2A",1022,"Arg",1104,"SCN9A(ENST00000409672):Arg996Cys"]
["SCN2A",1224,"Ala",1379,"SCN8A(ENST00000354534):Ala1214Thr"]
["SCN2A",1327,"Val",1482,"SCN1A(ENST00000303395):Val1337Met"]
["SCN2A",1417,"Gln",1575,"SCN1A(ENST00000303395):Gln1427Leu;SCN1A(ENST00000303395):Gln1427Pro"]
["SCN2A",1462,"Phe",1620,"SCN1A(ENST00000303395):Phe1472Ser"]
["SCN2A",1565,"Trp",1723,"SCN9A(ENST00000409672):Trp1538Arg"]
["SCN2A",1595,"Asn",1753,"SCN1A(ENST00000303395):Asn1605Ile"]
["SCN2A",1698,"Glu",1858,"SCN4A(ENST00000435607):Glu1520Lys"]
["SCN2A",1718,"Gly",1878,"SCN1A(ENST00000303395):Gly1728Glu"]
["SCN2A",1863,"Lys",2023,"SCN10A(ENST00000449082):Lys1809Arg"]
["SCN2B",121,"Asp",135,"MPZ(ENST00000533357):Asp121Asn"]
["SCN2B",167,"Gly",181,"MPZ(ENST00000533357):Gly163Arg"]
["SCN3A",178,"Phe",191,"SCN1A(ENST00000303395):Phe178Ser"]
["SCN3A",213,"Ser",227,"SCN8A(ENST00000354534):Ser217Pro;SCN9A(ENST00000409672):Ser211Pro"]
["SCN3A",328,"Leu",367,"SCN1A(ENST00000303395):Leu327Arg"]
["SCN3A",365,"Ser",404,"SCN1A(ENST00000303395):Ser364Arg"]
["SCN3A",569,"Pro",614,"SCN1A(ENST00000303395):Pro566Ser"]
["SCN3A",777,"Met",845,"SCN1A(ENST00000303395):Met785Thr;SCN1A(ENST00000303395):Met785Val"]
["SCN3A",881,"Ala",951,"SCN8A(ENST00000354534):Ala874Thr;SCN8A(ENST00000354534):Ala874Ser"]
["SCN3A",946,"Glu",1024,"SCN1A(ENST00000303395):Glu954Val;SCN5A(ENST00000413689):Glu901Lys"]
["SCN3A",1010,"Arg",1091,"SCN5A(ENST00000413689):Arg965Leu;SCN5A(ENST00000413689):Arg965His;SCN5A(ENST00000413689):Arg965Cys"]
["SCN3A",1276,"Asp",1433,"SCN1A(ENST00000303395):Asp1288Gly;SCN1A(ENST00000303395):Asp1288His;SCN5A(ENST00000413689):Asp1275Tyr;SCN5A(ENST00000413689):Asp1275Asn"]
["SCN3A",1373,"Phe",1531,"SCN1A(ENST00000303395):Phe1385Val"]
["SCN3A",1413,"Val",1576,"SCN1A(ENST00000303395):Val1428Ala;SCN1A(ENST00000303395):Val1428Phe"]
["SCN3A",1466,"Val",1629,"SCN4A(ENST00000435607):Val1293Ile;SCN1A(ENST00000303395):Val1481Ile;SCN5A(ENST00000413689):Val1468Phe"]
["SCN3A",1532,"Ile",1695,"SCN2A(ENST00000357398):Ile1537Phe"]
["SCN3A",1630,"Arg",1795,"SCN4A(ENST00000435607):Arg1457His;SCN2A(ENST00000357398):Arg1635Gln;SCN1A(ENST00000303395):Arg1645Pro;SCN1A(ENST00000303395):Arg1645Gln;SCN5A(ENST00000413689):Arg1632Leu;SCN5A(ENST00000413689):Arg1632His"]
["SCN3A",1694,"Thr",1859,"SCN1A(ENST00000303395):Thr1709Ile;SCN1A(ENST00000303395):Thr1709Asn"]
["SCN3A",1753,"Ser",1918,"SCN2A(ENST00000357398):Ser1758Arg;SCN1A(ENST00000303395):Ser1768Asn"]
["SCN3A",1866,"Glu",2031,"SCN1A(ENST00000303395):Glu1881Asp;SCN1A(ENST00000303395):Glu1881Lys"]
["SCN3A",1912,"Arg",2077,"SCN1A(ENST00000303395):Arg1927Thr;SCN1A(ENST00000303395):Arg1927Gly;SCN5A(ENST00000413689):Arg1913His"]
["SCN4A",176,"Ile",186,"SCN5A(ENST00000413689):Ile176Met"]
["SCN4A",246,"Ser",257,"SCN1A(ENST00000303395):Ser243Phe;SCN1A(ENST00000303395):Ser243Tyr;SCN9A(ENST00000409672):Ser241Thr"]
["SCN4A",361,"Gly",377,"SCN1A(ENST00000303395):Gly337Glu"]
["SCN4A",386,"Tyr",402,"SCN5A(ENST00000413689):Tyr352Cys"]
["SCN4A",458,"Leu",474,"SCN2A(ENST00000357398):Leu436Ser"]
["SCN4A",714,"Phe",966,"SCN2A(ENST00000357398):Phe895Ser"]
["SCN4A",747,"Phe",1007,"SCN2A(ENST00000357398):Phe928Cys"]
["SCN4A",1017,"Trp",1349,"SCN1A(ENST00000303395):Trp1204Arg"]
["SCN4A",1054,"Tyr",1386,"SCN1A(ENST00000303395):Tyr1241His;SCN5A(ENST00000413689):Tyr1228His"]
["SCN4A",1180,"Asn",1512,"SCN1A(ENST00000303395):Asn1367Lys;SCN5A(ENST00000413689):Asn1354Lys"]
["SCN4A",1205,"Asn",1539,"SCN1A(ENST00000303395):Asn1392Lys;SCN5A(ENST00000413689):Asn1380Lys"]
["SCN4A",1304,"Lys",1640,"SCN1A(ENST00000303395):Lys1492Asn"]
["SCN4A",1396,"Phe",1732,"SCN5A(ENST00000413689):Phe1571Cys"]
["SCN4A",1452,"Leu",1790,"SCN8A(ENST00000354534):Leu1621Trp"]
["SCN4A",1544,"Pro",1882,"SCN1A(ENST00000303395):Pro1732Leu"]
["SCN4A",1584,"Ile",1922,"SCN5A(ENST00000413689):Ile1758Val"]
["SCN4A",1716,"Glu",2054,"SCN5A(ENST00000413689):Glu1890Lys"]
["SCN4B",131,"Cys",141,"MPZ(ENST00000533357):Cys127Ser;MPZ(ENST00000533357):Cys127Tyr"]
["SCN5A",182,"Cys",192,"SCN1A(ENST00000303395):Cys179Arg"]
["SCN5A",301,"Trp",351,"SCN1A(ENST00000303395):Trp314Cys"]
["SCN5A",408,"Ile",458,"SCN1A(ENST00000303395):Ile418Leu"]
["SCN5A",757,"Thr",868,"SCN1A(ENST00000303395):Thr808Ser"]
["SCN5A",826,"Asn",939,"SCN2A(ENST00000357398):Asn868Lys"]
["SCN5A",930,"Val",1055,"SCN1A(ENST00000303395):Val983Ala;SCN1A(ENST00000303395):Val983Asp;SCN1A(ENST00000303395):Val983Ile"]
["SCN5A",1309,"Arg",1467,"SCN4A(ENST00000435607):Arg1135His;SCN4A(ENST00000435607):Arg1135Cys;SCN2A(ENST00000357398):Arg1312Thr;SCN1A(ENST00000303395):Arg1322Ile"]
["SCN5A",1344,"Phe",1502,"SCN1A(ENST00000303395):Phe1357Leu"]
["SCN5A",1455,"Ile",1616,"SCN11A(ENST00000302328):Ile1293Val"]
["SCN5A",1479,"Lys",1640,"SCN1A(ENST00000303395):Lys1492Asn"]
["SCN5A",1594,"Phe",1755,"SCN4A(ENST00000435607):Phe1419Ser;SCN2A(ENST00000357398):Phe1597Leu"]
["SCN5A",1644,"Arg",1807,"SCN8A(ENST00000354534):Arg1638His;SCN1A(ENST00000303395):Arg1657His;SCN1A(ENST00000303395):Arg1657Cys"]
["SCN5A",1747,"Val",1911,"SCN1A(ENST00000303395):Val1761Ala"]
["SCN7A",52,"Phe",71,"SCN1A(ENST00000303395):Phe63Leu"]
["SCN7A",91,"Arg",110,"SCN4A(ENST00000435607):Arg104His;SCN2A(ENST00000357398):Arg102Gln;SCN1A(ENST00000303395):Arg101Leu;SCN1A(ENST00000303395):Arg101Gln;SCN1A(ENST00000303395):Arg101Trp;SCN5A(ENST00000413689):Arg104Leu;SCN5A(ENST00000413689):Arg104Gln;SCN5A(ENST00000413689):Arg104Trp;SCN5A(ENST00000413689):Arg104Gly"]
["SCN7A",212,"Arg",236,"SCN4A(ENST00000435607):Arg225Trp"]
["SCN7A",334,"Thr",403,"SCN1A(ENST00000303395):Thr363Pro;SCN5A(ENST00000413689):Thr353Ile;SCN5A(ENST00000413689):Thr353Pro"]
["SCN7A",596,"Arg",921,"SCN4A(ENST00000435607):Arg669His;SCN4A(ENST00000435607):Arg669Gly;SCN1A(ENST00000303395):Arg859Pro;SCN1A(ENST00000303395):Arg859His;SCN1A(ENST00000303395):Arg859Cys;SCN5A(ENST00000413689):Arg808Pro;SCN5A(ENST00000413689):Arg808Cys"]
["SCN7A",721,"Leu",1056,"SCN1A(ENST00000303395):Leu984Arg"]
["SCN7A",935,"Trp",1364,"SCN5A(ENST00000413689):Trp1206Cys"]
["SCN7A",1082,"Gly",1516,"SCN1A(ENST00000303395):Gly1371Val;SCN1A(ENST00000303395):Gly1371Arg;SCN5A(ENST00000413689):Gly1358Trp"]
["SCN7A",1144,"Trp",1582,"SCN1A(ENST00000303395):Trp1434Arg"]
["SCN7A",1298,"Cys",1736,"SCN1A(ENST00000303395):Cys1588Arg"]
["SCN7A",1382,"Asn",1822,"SCN1A(ENST00000303395):Asn1672His"]
["SCN7A",1480,"Ile",1920,"SCN10A(ENST00000449082):Ile1706Val"]
["SCN7A",1592,"Met",2032,"SCN2A(ENST00000357398):Met1872Ile"]
["SCN8A",98,"Asn",103,"SCN1A(ENST00000303395):Asn94Lys"]
["SCN8A",226,"Arg",236,"SCN4A(ENST00000435607):Arg225Trp"]
["SCN8A",248,"Val",258,"SCN1A(ENST00000303395):Val244Ala;SCN5A(ENST00000413689):Val247Leu"]
["SCN8A",370,"Asp",422,"SCN1A(ENST00000303395):Asp382Glu"]
["SCN8A",398,"Gly",450,"SCN5A(ENST00000413689):Gly400Ala;SCN5A(ENST00000413689):Gly400Arg"]
["SCN8A",813,"Phe",888,"SCN5A(ENST00000413689):Phe777Leu"]
["SCN8A",889,"Phe",966,"SCN2A(ENST00000357398):Phe895Ser"]
["SCN8A",964,"Gly",1051,"SCN1A(ENST00000303395):Gly979Glu;SCN1A(ENST00000303395):Gly979Arg"]
["SCN8A",1188,"Arg",1353,"SCN5A(ENST00000413689):Arg1195His"]
["SCN8A",1232,"Leu",1397,"SCN5A(ENST00000413689):Leu1239Pro"]
["SCN8A",1336,"Ile",1501,"SCN2A(ENST00000357398):Ile1346Val;SCN5A(ENST00000413689):Ile1343Val"]
["SCN8A",1457,"Asn",1624,"SCN5A(ENST00000413689):Asn1463Tyr"]
["SCN8A",1482,"Thr",1649,"SCN4A(ENST00000435607):Thr1313Met;SCN4A(ENST00000435607):Thr1313Ala;SCN9A(ENST00000409672):Thr1464Ile;SCN5A(ENST00000413689):Thr1488Arg;SCN5A(ENST00000413689):Thr1488Lys"]
["SCN8A",1554,"Leu",1721,"SCN2A(ENST00000357398):Leu1563Val;SCN5A(ENST00000413689):Leu1560Phe"]
["SCN8A",1629,"Arg",1798,"SCN4A(ENST00000435607):Arg1460Gln;SCN4A(ENST00000435607):Arg1460Trp;SCN1A(ENST00000303395):Arg1648Leu;SCN1A(ENST00000303395):Arg1648His;SCN1A(ENST00000303395):Arg1648Cys"]
["SCN8A",1695,"Met",1864,"SCN1A(ENST00000303395):Met1714Arg;SCN1A(ENST00000303395):Met1714Thr;SCN1A(ENST00000303395):Met1714Lys"]
["SCN8A",1757,"Val",1927,"SCN4A(ENST00000435607):Val1589Met;SCN9A(ENST00000409672):Val1740Leu;SCN5A(ENST00000413689):Val1763Leu;SCN5A(ENST00000413689):Val1763Met"]
["SCN8A",1898,"Ser",2068,"SCN1A(ENST00000303395):Ser1918Phe"]
["SCN9A",168,"Leu",183,"SCN1A(ENST00000303395):Leu170Pro"]
["SCN9A",208,"Gly",223,"SCN8A(ENST00000354534):Gly214Asp;SCN1A(ENST00000303395):Gly210Asp"]
["SCN9A",335,"Arg",396,"SCN3A(ENST00000283254):Arg357Gln;SCN1A(ENST00000303395):Arg356Gly"]
["SCN9A",354,"Leu",415,"SCN1A(ENST00000303395):Leu375Phe"]
["SCN9A",584,"Arg",654,"SCN2A(ENST00000357398):Arg607Gln"]
["SCN9A",811,"Glu",906,"SCN1A(ENST00000303395):Glu846Gly"]
["SCN9A",867,"Phe",964,"SCN1A(ENST00000303395):Phe902Cys;SCN5A(ENST00000413689):Phe851Leu"]
["SCN9A",961,"Ser",1068,"SCN2A(ENST00000357398):Ser987Ile"]
["SCN9A",1148,"Cys",1330,"SCN2A(ENST00000357398):Cys1175Tyr;SCN1A(ENST00000303395):Cys1185Arg"]
["SCN9A",1295,"Gly",1477,"SCN2A(ENST00000357398):Gly1322Arg;SCN1A(ENST00000303395):Gly1332Glu;SCN5A(ENST00000413689):Gly1319Val"]
["SCN9A",1326,"Ile",1508,"SCN2A(ENST00000357398):Ile1353Met;SCN1A(ENST00000303395):Ile1363Asn;SCN5A(ENST00000413689):Ile1350Thr"]
["SCN9A",1435,"Phe",1620,"SCN1A(ENST00000303395):Phe1472Ser"]
["SCN9A",1522,"Met",1707,"SCN1A(ENST00000303395):Met1559Lys"]
["SCN9A",1533,"Thr",1718,"SCN10A(ENST00000449082):Thr1505Met"]
["SCN9A",1646,"Ile",1833,"SCN4A(ENST00000435607):Ile1495Phe"]
["SCN9A",1682,"Gln",1869,"SCN5A(ENST00000413689):Gln1706His"]
["SCN9A",1779,"Asp",1966,"SCN5A(ENST00000413689):Asp1802Gly"]
["SCN9A",1824,"Arg",2011,"SCN2A(ENST00000357398):Arg1851Trp;SCN1A(ENST00000303395):Arg1861Pro;SCN1A(ENST00000303395):Arg1861Gln;SCN1A(ENST00000303395):Arg1861Trp;SCN5A(ENST00000413689):Arg1847His"]
["SCNN1D",701,"Gly",754,"SCNN1A(ENST00000360168):Gly619Ser"]
["SCTR",266,"Pro",432,"GHRHR(ENST00000326139):Pro253Leu"]
["SDR42E1",189,"Tyr",236,"HSD3B2(ENST00000543831):Tyr190Cys"]
["SEC23A",368,"Gly",370,"SEC23B(ENST00000336714):Gly370Ala"]
["SEC23B",384,"Phe",384,"SEC23A(ENST00000307712):Phe382Leu"]
["SEMA3E",83,"Leu",106,"SEMA3A(ENST00000265362):Leu82Arg"]
["SEMA3G",411,"His",499,"SEMA3D(ENST00000284136):His424Gln"]
["SERPINA1",409,"Met",538,"SERPINA3(ENST00000467132):Met414Val"]
["SERPINA11",73,"Ile",169,"SERPINA1(ENST00000448921):Ile74Asn"]
["SERPINA12",362,"Glu",491,"SERPINA1(ENST00000448921):Glu366Lys;SERPIND1(ENST00000215727):Glu447Lys"]
["SERPINA4",350,"Gly",468,"SERPINA1(ENST00000448921):Gly344Arg"]
["SERPINA6",98,"Thr",209,"SERPINA1(ENST00000448921):Thr109Met"]
["SERPINA7",99,"Asn",202,"SERPINA1(ENST00000448921):Asn107Lys"]
["SERPINB1",50,"Thr",130,"SERPINC1(ENST00000367698):Thr130Ile"]
["SERPINB1",232,"Leu",359,"SERPINC1(ENST00000367698):Leu317Ser"]
["SERPINB10",370,"Phe",482,"SERPINC1(ENST00000367698):Phe434Leu;SERPINC1(ENST00000367698):Phe434Cys;SERPINC1(ENST00000367698):Phe434Ser"]
["SERPINB12",203,"Thr",284,"SERPINC1(ENST00000367698):Thr243Ile"]
["SERPINB13",153,"Ser",255,"SERPINC1(ENST00000367698):Ser214Phe;SERPINC1(ENST00000367698):Ser214Tyr"]
["SERPINB13",316,"Asp",422,"SERPINC1(ENST00000367698):Asp374Gly"]
["SERPINB2",254,"Leu",344,"SERPINC1(ENST00000367698):Leu302Pro"]
["SERPINB3",363,"Phe",482,"SERPINC1(ENST00000367698):Phe434Leu;SERPINC1(ENST00000367698):Phe434Cys;SERPINC1(ENST00000367698):Phe434Ser"]
["SERPINB4",44,"Gly",125,"SERPINC1(ENST00000367698):Gly125Cys"]
["SERPINB5",142,"Gly",269,"SERPINC1(ENST00000367698):Gly228Val;SERPINB7(ENST00000398019):Gly152Val"]
["SERPINB5",320,"His",449,"SERPINC1(ENST00000367698):His401Tyr"]
["SERPINB7",152,"Gly",269,"SERPINC1(ENST00000367698):Gly228Val"]
["SERPINB7",181,"Trp",298,"SERPINC1(ENST00000367698):Trp257Cys;SERPINC1(ENST00000367698):Trp257Arg"]
["SERPINB9",12,"Ala",91,"SERPINC1(ENST00000367698):Ala91Val"]
["SERPINB9",232,"Leu",359,"SERPINC1(ENST00000367698):Leu317Ser"]
["SERPINC1",228,"Gly",269,"SERPINB7(ENST00000398019):Gly152Val"]
["SERPINE3",33,"Phe",151,"SERPINA1(ENST00000448921):Phe57Leu"]
["SERPINF1",77,"Asn",166,"SERPING1(ENST00000278407):Asn166Lys"]
["SERPINF2",190,"Pro",258,"SERPING1(ENST00000278407):Pro248Arg"]
["SERPINF2",417,"Phe",496,"SERPING1(ENST00000278407):Phe479Leu"]
["SERPINH1",405,"Arg",511,"SERPING1(ENST00000278407):Arg494Gln;SERPING1(ENST00000278407):Arg494Leu"]
["SERPINI2",332,"Asp",471,"SERPINI1(ENST00000295777):Asp327Glu"]
["SGCD",70,"Leu",84,"SGCG(ENST00000218867):Leu71Ser"]
["SGCZ",282,"Glu",282,"SGCG(ENST00000218867):Glu263Lys;SGCD(ENST00000337851):Glu262Lys"]
["SHH",90,"Glu",96,"IHH(ENST00000295731):Glu95Gly;IHH(ENST00000295731):Glu95Lys"]
["SIX6",47,"Leu",47,"SIX2(ENST00000303077):Leu43Phe"]
["SLC12A1",386,"Ile",503,"SLC12A3(ENST00000438926):Ile346Phe"]
["SLC12A1",517,"Lys",635,"SLC12A3(ENST00000438926):Lys478Glu"]
["SLC12A1",777,"Leu",895,"SLC12A3(ENST00000438926):Leu738Arg"]
["SLC12A2",302,"Val",310,"SLC12A3(ENST00000438926):Val153Met"]
["SLC12A2",453,"Thr",461,"SLC12A3(ENST00000438926):Thr304Pro;SLC12A3(ENST00000438926):Thr304Met"]
["SLC12A2",525,"Ala",535,"SLC12A3(ENST00000438926):Ala378Thr"]
["SLC12A2",795,"Thr",806,"SLC12A3(ENST00000438926):Thr649Arg;SLC12A3(ENST00000438926):Thr649Met"]
["SLC12A3",459,"Ala",616,"SLC12A1(ENST00000396577):Ala498Val"]
["SLC12A4",928,"Thr",995,"SLC12A6(ENST00000354181):Thr991Ala"]
["SLC13A1",251,"Gly",332,"SLC13A5(ENST00000433363):Gly219Arg"]
["SLC16A11",195,"Gly",205,"SLC16A12(ENST00000371790):Gly205Val"]
["SLC17A2",173,"Ala",234,"SLC17A8(ENST00000323346):Ala211Val"]
["SLC17A8",359,"Pro",384,"SLC17A5(ENST00000355773):Pro334Arg"]
["SLC19A2",49,"Ser",49,"SLC19A3(ENST00000258403):Ser31Pro"]
["SLC1A3",473,"Trp",577,"SLC1A4(ENST00000234256):Trp453Arg"]
["SLC1A6",93,"Gly",104,"SLC1A2(ENST00000278379):Gly82Arg"]
["SLC22A11",16,"Phe",19,"SLC22A5(ENST00000245407):Phe17Leu"]
["SLC22A11",121,"Arg",153,"SLC22A12(ENST00000377574):Arg124Leu"]
["SLC22A15",81,"Gly",124,"SLC22A5(ENST00000245407):Gly96Ala"]
["SLC22A2",488,"Leu",555,"SLC22A5(ENST00000245407):Leu507Ser"]
["SLC22A25",49,"Cys",54,"SLC22A5(ENST00000245407):Cys50Tyr"]
["SLC22A4",122,"Asp",154,"SLC22A5(ENST00000245407):Asp122Tyr"]
["SLC22A5",306,"Arg",338,"SLC22A12(ENST00000377574):Arg284Gly"]
["SLC22A7",402,"Arg",464,"SLC22A12(ENST00000377574):Arg405Cys"]
["SLC22A8",454,"Arg",542,"SLC22A12(ENST00000377574):Arg477Ser"]
["SLC25A12",451,"Lys",454,"SLC25A13(ENST00000416240):Lys454Arg;SLC25A13(ENST00000416240):Lys454Glu"]
["SLC26A1",201,"Gly",249,"SLC26A4(ENST00000265715):Gly209Glu;SLC26A4(ENST00000265715):Gly209Val"]
["SLC26A1",519,"Thr",567,"SLC26A4(ENST00000265715):Thr527Pro"]
["SLC26A10",70,"Gly",162,"SLC26A4(ENST00000265715):Gly131Arg;SLC26A4(ENST00000265715):Gly131Val;SLC26A3(ENST00000340010):Gly120Ser"]
["SLC26A10",166,"Leu",276,"SLC26A4(ENST00000265715):Leu236Val;SLC26A4(ENST00000265715):Leu236Pro"]
["SLC26A2",157,"Ser",164,"SLC26A4(ENST00000265715):Ser133Thr;SLC26A4(ENST00000265715):Ser133Leu"]
["SLC26A2",549,"Pro",556,"SLC26A4(ENST00000265715):Pro516Ser"]
["SLC26A3",83,"Thr",123,"SLC26A4(ENST00000265715):Thr94Ile"]
["SLC26A3",325,"Phe",375,"SLC26A4(ENST00000265715):Phe335Leu;SLC26A4(ENST00000265715):Phe335Ser"]
["SLC26A3",411,"Gln",461,"SLC26A2(ENST00000286298):Gln454Pro;SLC26A4(ENST00000265715):Gln421Lys;SLC26A4(ENST00000265715):Gln421Pro;SLC26A4(ENST00000265715):Gln421Arg;SLC26A4(ENST00000265715):Gln421Leu"]
["SLC26A3",709,"Phe",824,"SLC26A4(ENST00000265715):Phe718Ser"]
["SLC26A4",392,"Asn",432,"SLC26A2(ENST00000286298):Asn425Asp"]
["SLC26A5",204,"Tyr",254,"SLC26A3(ENST00000340010):Tyr204Asp"]
["SLC26A5",671,"Gly",789,"SLC26A2(ENST00000286298):Gly678Val"]
["SLC26A6",107,"Gln",130,"SLC26A2(ENST00000286298):Gln125Leu"]
["SLC26A6",222,"Ala",267,"SLC26A4(ENST00000265715):Ala227Pro"]
["SLC26A6",509,"Gln",554,"SLC26A4(ENST00000265715):Gln514Lys;SLC26A4(ENST00000265715):Gln514Arg"]
["SLC26A7",342,"Gln",423,"SLC26A4(ENST00000265715):Gln383Glu"]
["SLC26A8",89,"Lys",110,"SLC26A4(ENST00000265715):Lys81Glu"]
["SLC26A8",361,"Ala",393,"SLC26A2(ENST00000286298):Ala386Val"]
["SLC26A9",55,"Leu",97,"SLC26A4(ENST00000265715):Leu68Pro"]
["SLC26A9",169,"Arg",225,"SLC26A4(ENST00000265715):Arg185Thr;SLC26A3(ENST00000340010):Arg175Ser"]
["SLC26A9",683,"Leu",774,"SLC26A4(ENST00000265715):Leu676Gln"]
["SLC27A3",61,"Pro",77,"SLC27A1(ENST00000252595):Pro23Arg"]
["SLC2A1",22,"Gly",79,"SLC2A2(ENST00000314251):Gly20Asp"]
["SLC2A11",39,"Leu",88,"SLC2A9(ENST00000264784):Leu75Arg"]
["SLC2A14",64,"Gly",85,"SLC2A1(ENST00000426263):Gly27Val;SLC2A1(ENST00000426263):Gly27Ser;SLC2A9(ENST00000264784):Gly72Asp"]
["SLC2A14",425,"Trp",487,"SLC2A2(ENST00000314251):Trp420Leu"]
["SLC2A2",108,"Gly",173,"SLC2A1(ENST00000426263):Gly76Val;SLC2A1(ENST00000426263):Gly76Ala;SLC2A1(ENST00000426263):Gly76Arg"]
["SLC2A3",64,"Ser",163,"SLC2A1(ENST00000426263):Ser66Phe"]
["SLC2A3",151,"Arg",250,"SLC2A1(ENST00000426263):Arg153Leu;SLC2A1(ENST00000426263):Arg153Pro;SLC2A1(ENST00000426263):Arg153His;SLC2A1(ENST00000426263):Arg153Cys;SLC2A9(ENST00000264784):Arg198Cys"]
["SLC2A4",146,"Gly",227,"SLC2A1(ENST00000426263):Gly130Arg;SLC2A1(ENST00000426263):Gly130Ser"]
["SLC2A4",353,"His",436,"SLC2A1(ENST00000426263):His337Leu"]
["SLC2A5",161,"Ala",252,"SLC2A1(ENST00000426263):Ala155Val"]
["SLC2A5",495,"Pro",604,"SLC2A1(ENST00000426263):Pro485Leu"]
["SLC2A7",146,"Gly",231,"SLC2A1(ENST00000426263):Gly134Ser"]
["SLC2A9",188,"Tyr",240,"SLC2A1(ENST00000426263):Tyr143Cys"]
["SLC2A9",314,"Arg",366,"SLC2A1(ENST00000426263):Arg269Cys"]
["SLC34A3",118,"Pro",153,"SLC34A1(ENST00000324417):Pro146Leu"]
["SLC4A1",808,"Arg",1180,"SLC4A4(ENST00000425175):Arg925Cys"]
["SLC4A4",452,"Arg",681,"SLC4A1(ENST00000262418):Arg388Cys"]
["SLC4A5",773,"Lys",956,"SLC4A1(ENST00000262418):Lys600Asn"]
["SLC4A7",721,"Arg",811,"SLC4A1(ENST00000262418):Arg518Cys"]
["SLC4A9",70,"Leu",152,"SLC4A1(ENST00000262418):Leu73Met"]
["SLC52A1",291,"Ala",332,"SLC52A3(ENST00000217254):Ala312Val;SLC52A2(ENST00000532887):Ala288Val"]
["SLC52A2",35,"Pro",35,"SLC52A3(ENST00000217254):Pro28Thr"]
["SLC5A1",351,"Cys",411,"SLC5A2(ENST00000330498):Cys351Arg"]
["SLC5A10",100,"Val",143,"SLC5A2(ENST00000330498):Val105Met"]
["SLC5A10",385,"Met",444,"SLC5A2(ENST00000330498):Met382Thr"]
["SLC5A11",250,"Cys",293,"SLC5A1(ENST00000266088):Cys255Trp"]
["SLC5A11",458,"Leu",525,"SLC5A2(ENST00000330498):Leu463Arg"]
["SLC5A2",355,"Cys",415,"SLC5A1(ENST00000266088):Cys355Ser"]
["SLC5A3",70,"Gly",99,"SLC5A2(ENST00000330498):Gly86Arg;SLC5A1(ENST00000266088):Gly89Arg"]
["SLC5A3",485,"Leu",562,"SLC5A2(ENST00000330498):Leu500Arg"]
["SLC5A4",272,"Gly",311,"SLC5A2(ENST00000330498):Gly272Arg"]
["SLC5A5",108,"Val",154,"SLC5A2(ENST00000330498):Val116Met"]
["SLC5A5",338,"Gly",439,"SLC5A2(ENST00000330498):Gly377Ser"]
["SLC5A8",266,"Arg",339,"SLC5A2(ENST00000330498):Arg300Cys;SLC5A1(ENST00000266088):Arg300Ser"]
["SLC5A9",503,"Ala",536,"SLC5A2(ENST00000330498):Ala474Pro"]
["SLC6A1",159,"Leu",311,"SLC6A5(ENST00000525748):Leu306Val"]
["SLC6A11",521,"Pro",702,"SLC6A3(ENST00000270349):Pro529Leu"]
["SLC6A12",152,"Leu",311,"SLC6A5(ENST00000525748):Leu306Val"]
["SLC6A13",472,"Gly",670,"SLC6A5(ENST00000525748):Gly657Ala"]
["SLC6A15",86,"Arg",128,"SLC6A19(ENST00000304460):Arg57Cys"]
["SLC6A16",597,"Asp",608,"SLC6A19(ENST00000304460):Asp517Gly"]
["SLC6A2",262,"Val",428,"SLC6A1(ENST00000287766):Val239Met"]
["SLC6A2",617,"Arg",822,"SLC6A3(ENST00000270349):Arg615Cys"]
["SLC6A4",329,"Ala",479,"SLC6A1(ENST00000287766):Ala288Val;SLC6A3(ENST00000270349):Ala314Val"]
["SLC6A4",538,"Arg",694,"SLC6A3(ENST00000270349):Arg521Trp"]
["SLC6A6",414,"Gly",498,"SLC6A1(ENST00000287766):Gly307Arg"]
["SLC6A7",94,"Glu",252,"SLC6A5(ENST00000525748):Glu248Lys"]
["SLC6A8",148,"Tyr",292,"SLC6A1(ENST00000287766):Tyr140Cys"]
["SLC6A9",410,"Ala",525,"SLC6A1(ENST00000287766):Ala334Pro"]
["SLC7A10",329,"Gly",344,"SLC7A7(ENST00000397532):Gly323Ser"]
["SLC7A11",154,"Phe",164,"SLC7A9(ENST00000023064):Phe140Ser"]
["SLC7A11",348,"Glu",362,"SLC7A9(ENST00000023064):Glu334Gly"]
["SLC7A5",246,"Ala",252,"SLC7A9(ENST00000023064):Ala224Val"]
["SLC7A6",292,"Val",305,"SLC7A9(ENST00000023064):Val277Met"]
["SLC7A7",127,"Ile",144,"SLC7A9(ENST00000023064):Ile120Leu"]
["SLC7A8",245,"Tyr",260,"SLC7A9(ENST00000023064):Tyr232Cys"]
["SLC7A9",117,"Leu",141,"SLC7A7(ENST00000397532):Leu124Pro"]
["SLCO1A2",210,"Gly",347,"SLCO2A1(ENST00000310926):Gly222Arg"]
["SLCO1B7",137,"Gly",308,"SLCO2A1(ENST00000310926):Gly183Arg"]
["SLCO1B7",526,"Gly",742,"SLCO2A1(ENST00000310926):Gly554Arg"]
["SLCO3A1",229,"Gly",347,"SLCO2A1(ENST00000310926):Gly222Arg"]
["SLCO4A1",276,"Pro",344,"SLCO2A1(ENST00000310926):Pro219Leu"]
["SLCO4C1",476,"Cys",571,"SLCO2A1(ENST00000310926):Cys420Phe"]
["SLCO6A1",617,"Gly",742,"SLCO2A1(ENST00000310926):Gly554Arg"]
["SMAD2",281,"Glu",328,"SMAD3(ENST00000327367):Glu239Lys"]
["SMAD5",87,"Val",133,"SMAD9(ENST00000379826):Val90Met"]
["SMAD5",359,"Asn",409,"SMAD2(ENST00000402690):Asn361Thr"]
["SMAD9",464,"Ser",512,"SMAD3(ENST00000327367):Ser422Phe"]
["SMARCA2",891,"Leu",937,"SMARCA4(ENST00000429416):Leu921Phe"]
["SMARCA4",1192,"Arg",1208,"SMARCA2(ENST00000382203):Arg1162Ser;SMARCA2(ENST00000382203):Arg1162Cys;SMARCA2(ENST00000382203):Arg1162His"]
["SMN2",136,"Gln",136,"SMN1(ENST00000380707):Gln136Glu"]
["SNCB",46,"Glu",46,"SNCA(ENST00000394986):Glu46Lys"]
["SOS2",548,"Leu",550,"SOS1(ENST00000426016):Leu550Pro"]
["SOS2",734,"Ile",736,"SOS1(ENST00000426016):Ile736Arg"]
["SOX11",55,"Ala",121,"SOX9(ENST00000245479):Ala111Thr"]
["SOX11",104,"Arg",170,"SOX9(ENST00000245479):Arg160Pro"]
["SOX4",110,"Arg",166,"SOX11(ENST00000322002):Arg100Pro"]
["SOX7",52,"Phe",122,"SOX9(ENST00000245479):Phe112Leu;SOX9(ENST00000245479):Phe112Ser;SOX10(ENST00000396884):Phe111Val;SOX4(ENST00000244745):Phe66Leu"]
["SOX9",120,"Arg",130,"SOX11(ENST00000322002):Arg64Gly"]
["SPTA1",557,"Arg",579,"SPTBN2(ENST00000533211):Arg414Cys"]
["SPTAN1",2225,"Trp",2393,"SPTB(ENST00000389722):Trp2024Arg"]
["SPTBN1",106,"Gly",127,"SPTAN1(ENST00000372739):Gly106Arg"]
["SPTBN1",881,"Leu",1188,"SPTB(ENST00000389722):Leu880Gln"]
["SPTBN4",63,"Gln",73,"SPTB(ENST00000389722):Gln56Arg"]
["SRMS",109,"Lys",164,"LYN(ENST00000519728):Lys120Ile"]
["SSTR2",180,"Tyr",255,"MCHR1(ENST00000249016):Tyr250His"]
["SSTR5",257,"Phe",353,"KISS1R(ENST00000234371):Phe272Ser"]
["STAG2",381,"Asp",412,"STAG1(ENST00000383202):Asp384His"]
["STAT1",465,"Pro",499,"STAT3(ENST00000264657):Pro471Arg"]
["STAT2",163,"Ile",168,"STAT1(ENST00000361099):Ile160Phe"]
["STAT2",636,"Leu",680,"STAT3(ENST00000264657):Leu645Gln"]
["STAT3",469,"Gln",497,"STAT5B(ENST00000293328):Gln474Arg;STAT1(ENST00000361099):Gln463His"]
["STAT4",166,"Asp",173,"STAT1(ENST00000361099):Asp165Gly;STAT1(ENST00000361099):Asp165His"]
["STAT4",513,"Asp",553,"STAT1(ENST00000361099):Asp517Gly"]
["STAT5A",169,"Gln",175,"STAT1(ENST00000361099):Gln167His;STAT1(ENST00000361099):Gln167Pro;STAT1(ENST00000361099):Gln167Glu"]
["STAT5A",645,"Pro",674,"STAT3(ENST00000264657):Pro639Gln;STAT3(ENST00000264657):Pro639Ser;STAT3(ENST00000264657):Pro639Ala;STAT3(ENST00000264657):Pro639Thr"]
["STAT5B",618,"Arg",643,"STAT3(ENST00000264657):Arg609Ser;STAT3(ENST00000264657):Arg609Gly"]
["STAT6",544,"Lys",625,"STAT3(ENST00000264657):Lys591Met;STAT3(ENST00000264657):Lys591Glu"]
["STS",151,"Pro",209,"GALNS(ENST00000268695):Pro151Leu;GALNS(ENST00000268695):Pro151Arg;GALNS(ENST00000268695):Pro151Ser;GALNS(ENST00000268695):Pro151Thr;ARSA(ENST00000216124):Pro138Leu;ARSA(ENST00000216124):Pro138Ser;ARSA(ENST00000216124):Pro138Thr"]
["STS",296,"Ser",357,"GALNS(ENST00000268695):Ser242Cys"]
["STS",512,"Arg",621,"ARSB(ENST00000264914):Arg484Gly"]
["STX1B",254,"Val",277,"STX11(ENST00000367568):Val267Met"]
["STXBP2",263,"Met",271,"STXBP1(ENST00000373302):Met252Thr"]
["STXBP3",513,"Ala",536,"STXBP1(ENST00000373302):Ala517Ser"]
["STXBP3",538,"Gly",565,"STXBP1(ENST00000373302):Gly544Arg;STXBP1(ENST00000373302):Gly544Cys;STXBP1(ENST00000373302):Gly544Asp;STXBP1(ENST00000373302):Gly544Val"]
["TACR1",205,"Tyr",298,"TACR3(ENST00000304883):Tyr256His"]
["TACSTD2",145,"Cys",145,"EPCAM(ENST00000263735):Cys135Phe"]
["TBX1",274,"Thr",323,"TBX19(ENST00000367821):Thr195Ala"]
["TBX18",165,"Gly",178,"TBX5(ENST00000310346):Gly80Arg"]
["TBX19",338,"Ser",509,"TBX4(ENST00000240335):Ser395Pro"]
["TBX20",287,"Arg",345,"TBX5(ENST00000310346):Arg237Pro;TBX5(ENST00000310346):Arg237Gln;TBX5(ENST00000310346):Arg237Trp;TBX4(ENST00000240335):Arg250Trp;TBX4(ENST00000240335):Arg250Gln"]
["TBX22",151,"Arg",211,"TBX19(ENST00000367821):Arg100His;TBX5(ENST00000310346):Arg113Lys"]
["TBX4",102,"Val",187,"TBX5(ENST00000310346):Val89Glu"]
["TBX4",250,"Arg",345,"TBX5(ENST00000310346):Arg237Pro;TBX5(ENST00000310346):Arg237Gln;TBX5(ENST00000310346):Arg237Trp"]
["TBX6",182,"Gly",246,"TBX19(ENST00000367821):Gly132Val"]
["TBXAS1",64,"Phe",83,"CYP4V2(ENST00000378802):Phe73Leu"]
["TCF4",680,"Arg",742,"TCF12(ENST00000438423):Arg611Cys"]
["TENM1",54,"Arg",56,"TENM4(ENST00000278550):Arg53Pro"]
["TFAP2B",315,"Glu",364,"TFAP2A(ENST00000379604):Glu296Lys"]
["TFAP2E",269,"Gly",330,"TFAP2A(ENST00000379604):Gly262Glu"]
["TGFB2",253,"His",333,"TGFB1(ENST00000221930):His222Asp"]
["TGFB3",378,"Cys",498,"TGFB2(ENST00000366929):Cys408Phe;TGFB2(ENST00000366929):Cys408Trp"]
["TGFBR1",320,"Leu",456,"ACVRL1(ENST00000388922):Leu313Val;ACVRL1(ENST00000388922):Leu313Pro"]
["TGFBR1",357,"Gly",496,"ACVRL1(ENST00000388922):Gly350Ser;ACVRL1(ENST00000388922):Gly350Arg;ACVR1(ENST00000263640):Gly356Asp"]
["TGFBR2",168,"Cys",182,"BMPR1A(ENST00000372037):Cys130Arg;ACVRL1(ENST00000388922):Cys95Arg"]
["TGFBR2",404,"Asp",476,"ACVRL1(ENST00000388922):Asp330Asn;ACVRL1(ENST00000388922):Asp330His;ACVRL1(ENST00000388922):Asp330Tyr;AMHR2(ENST00000257863):Asp333Tyr"]
["TGM1",166,"Glu",172,"F13A1(ENST00000264870):Glu103Lys"]
["TGM1",355,"Trp",369,"TGM5(ENST00000220420):Trp255Arg"]
["TGM2",100,"Leu",212,"TGM1(ENST00000206765):Leu205Gln"]
["TGM2",488,"Asp",640,"TGM6(ENST00000202625):Asp510His"]
["TGM3",58,"Val",173,"TGM5(ENST00000220420):Val61Phe"]
["TGM3",351,"Gln",471,"TGM5(ENST00000220420):Gln357His"]
["TGM3",621,"Leu",773,"TGM1(ENST00000206765):Leu717Arg"]
["TGM4",385,"Val",509,"TGM6(ENST00000202625):Val391Met"]
["TGM5",238,"Leu",352,"F13A1(ENST00000264870):Leu276Phe"]
["TGM5",296,"Thr",410,"TGM1(ENST00000206765):Thr395Ile"]
["TGM6",97,"Leu",212,"TGM1(ENST00000206765):Leu205Gln"]
["TGM6",251,"Trp",369,"TGM5(ENST00000220420):Trp255Arg"]
["TGM7",19,"Asn",127,"TGM1(ENST00000206765):Asn125Thr;F13A1(ENST00000264870):Asn61Lys"]
["TGM7",183,"Asn",296,"TGM1(ENST00000206765):Asn289Thr"]
["TGM7",443,"Thr",559,"TGM1(ENST00000206765):Thr541Pro"]
["TH",227,"Asp",237,"PAH(ENST00000553106):Asp151Glu;PAH(ENST00000553106):Asp151Gly;PAH(ENST00000553106):Asp151His"]
["TH",316,"Phe",326,"PAH(ENST00000553106):Phe240Ser;PAH(ENST00000553106):Phe240Val"]
["TH",372,"Asp",382,"PAH(ENST00000553106):Asp296Gly;PAH(ENST00000553106):Asp296His"]
["TH",422,"Gly",432,"PAH(ENST00000553106):Gly346Glu;PAH(ENST00000553106):Gly346Arg"]
["THRB",359,"Ser",585,"RORA(ENST00000261523):Ser442Arg"]
["TK2",134,"Arg",166,"DGUOK(ENST00000264093):Arg142Lys"]
["TMPRSS11B",219,"Trp",420,"TMPRSS3(ENST00000291532):Trp251Cys"]
["TMPRSS11E",409,"Arg",618,"TMPRSS3(ENST00000291532):Arg436Cys;TMPRSS3(ENST00000291532):Arg436Gly"]
["TMPRSS13",366,"His",426,"TMPRSS3(ENST00000291532):His257Gln"]
["TMPRSS2",461,"Met",562,"TMPRSS3(ENST00000291532):Met384Arg"]
["TMPRSS5",152,"Gly",303,"TMPRSS3(ENST00000291532):Gly146Ser"]
["TNFRSF6B",68,"Thr",70,"CD40(ENST00000372285):Thr57Met"]
["TNNC2",101,"Arg",217,"TNNC1(ENST00000232975):Arg102Cys"]
["TNNI2",98,"Gln",130,"TNNI3(ENST00000344887):Gln130Arg"]
["TNNT3",110,"Arg",152,"TNNT2(ENST00000509001):Arg151His;TNNT2(ENST00000509001):Arg151Cys"]
["TPH1",59,"Glu",158,"PAH(ENST00000553106):Glu76Asp;PAH(ENST00000553106):Glu76Gly;PAH(ENST00000553106):Glu76Ala;PAH(ENST00000553106):Glu76Lys"]
["TPH1",187,"Thr",286,"TH(ENST00000381178):Thr276Pro;PAH(ENST00000553106):Thr200Asn"]
["TPH1",251,"His",350,"PAH(ENST00000553106):His264Leu"]
["TPH1",317,"Glu",416,"TH(ENST00000381178):Glu406Gln;PAH(ENST00000553106):Glu330Asp"]
["TPH2",187,"Tyr",240,"PAH(ENST00000553106):Tyr154Phe;PAH(ENST00000553106):Tyr154Cys;PAH(ENST00000553106):Tyr154His;PAH(ENST00000553106):Tyr154Asn"]
["TPH2",223,"Val",276,"PAH(ENST00000553106):Val190Gly;PAH(ENST00000553106):Val190Ala"]
["TPH2",322,"Gly",375,"PAH(ENST00000553106):Gly289Arg"]
["TPH2",345,"Gly",398,"PAH(ENST00000553106):Gly312Val;PAH(ENST00000553106):Gly312Asp;PAH(ENST00000553106):Gly312Cys;PAH(ENST00000553106):Gly312Arg"]
["TPM1",14,"Asp",15,"TPM2(ENST00000378292):Asp14Val"]
["TPM2",54,"Glu",55,"TPM1(ENST00000358278):Glu54Lys"]
["TPM2",242,"Ala",243,"TPM1(ENST00000358278):Ala242Val"]
["TPM3",140,"Glu",140,"TPM1(ENST00000358278):Glu139Val"]
["TPM4",14,"Asp",15,"TPM1(ENST00000358278):Asp14Gly;TPM2(ENST00000378292):Asp14Val"]
["TPM4",229,"Ser",230,"TPM1(ENST00000358278):Ser229Phe"]
["TRPC1",304,"Arg",381,"TRPC6(ENST00000344327):Arg360His"]
["TRPM2",213,"Gly",242,"TRPM1(ENST00000542188):Gly182Asp"]
["TRPM3",218,"Ile",234,"TRPM6(ENST00000360774):Ile174Arg"]
["TRPM6",295,"Gly",361,"TRPM1(ENST00000542188):Gly295Arg"]
["TRPM7",1096,"Phe",1273,"TRPM1(ENST00000542188):Phe1114Ser"]
["TRPV2",483,"Val",576,"TRPV4(ENST00000418703):Val562Phe"]
["TRPV3",272,"Thr",305,"TRPV4(ENST00000418703):Thr295Ala"]
["TRPV3",753,"Pro",821,"TRPV4(ENST00000418703):Pro799Leu;TRPV4(ENST00000418703):Pro799Arg;TRPV4(ENST00000418703):Pro799Ser;TRPV4(ENST00000418703):Pro799Ala"]
["TTC21A",476,"Pro",476,"TTC21B(ENST00000243344):Pro466His"]
["TUBA1B",81,"Gly",158,"TUBA1A(ENST00000301071):Gly81Asp"]
["TUBA1B",219,"Ile",296,"TUBA1A(ENST00000301071):Ile219Val"]
["TUBA1B",422,"Arg",499,"TUBA1A(ENST00000301071):Arg422His;TUBA1A(ENST00000301071):Arg422Cys"]
["TUBA1C",128,"Ala",135,"TUBA1A(ENST00000301071):Ala58Pro"]
["TUBA1C",366,"Phe",373,"TUBA1A(ENST00000301071):Phe296Ser"]
["TUBA1C",486,"Gly",493,"TUBA1A(ENST00000301071):Gly416Ser"]
["TUBA3C",234,"Ile",311,"TUBA4A(ENST00000248437):Ile234Thr"]
["TUBA3C",352,"Lys",429,"TUBA1A(ENST00000301071):Lys352Met"]
["TUBA3D",143,"Gly",220,"TUBA1A(ENST00000301071):Gly143Arg"]
["TUBA3D",303,"Val",380,"TUBA1A(ENST00000301071):Val303Gly"]
["TUBA3E",28,"His",98,"TUBA1A(ENST00000301071):His28Tyr"]
["TUBA3E",336,"Lys",413,"TUBA1A(ENST00000301071):Lys336Arg"]
["TUBA4A",107,"His",184,"TUBA1A(ENST00000301071):His107Gln;TUBA1A(ENST00000301071):His107Arg"]
["TUBA4A",239,"Thr",316,"TUBA1A(ENST00000301071):Thr239Pro"]
["TUBA8",54,"Ser",131,"TUBA1A(ENST00000301071):Ser54Arg;TUBA1A(ENST00000301071):Ser54Asn"]
["TUBA8",143,"Gly",220,"TUBA1A(ENST00000301071):Gly143Arg"]
["TUBA8",429,"Glu",506,"TUBA1A(ENST00000301071):Glu429Gln"]
["TUBAL3",168,"Tyr",238,"TUBA1A(ENST00000301071):Tyr161Asp;TUBA1A(ENST00000301071):Tyr161His"]
["TUBAL3",442,"Val",512,"TUBA1A(ENST00000301071):Val435Ala"]
["TUBB",358,"Pro",392,"TUBB8(ENST00000309812):Pro358Leu;TUBB8(ENST00000309812):Pro358Ala;TUBB4A(ENST00000264071):Pro358Ser"]
["TUBB",397,"Trp",431,"TUBB4A(ENST00000264071):Trp397Leu"]
["TUBB1",394,"Phe",428,"TUBB6(ENST00000317702):Phe394Ser;TUBB4A(ENST00000264071):Phe394Cys"]
["TUBB2A",73,"Met",81,"TUBB(ENST00000327892):Met73Thr"]
["TUBB2A",380,"Arg",414,"TUBB3(ENST00000315491):Arg380Cys"]
["TUBB2B",73,"Met",81,"TUBB(ENST00000327892):Met73Thr"]
["TUBB3",70,"Pro",78,"TUBB8(ENST00000309812):Pro70Leu"]
["TUBB3",354,"Cys",388,"TUBB8(ENST00000309812):Cys354Tyr;TUBB4A(ENST00000264071):Cys354Trp;TUBB4A(ENST00000264071):Cys354Tyr"]
["TUBB4A",12,"Cys",12,"TUBB8(ENST00000309812):Cys12Tyr"]
["TUBB4A",361,"Leu",395,"TUBB3(ENST00000315491):Leu361Ile"]
["TUBB4B",156,"Arg",164,"TUBB4A(ENST00000264071):Arg156Leu"]
["TUBB4B",401,"Glu",436,"TUBB(ENST00000327892):Glu401Lys"]
["TUBB6",302,"Ala",336,"TUBB3(ENST00000315491):Ala302Thr;TUBB3(ENST00000315491):Ala302Val"]
["TUBB6",394,"Phe",428,"TUBB4A(ENST00000264071):Phe394Cys"]
["TUBB8",244,"Gly",278,"TUBB4A(ENST00000264071):Gly244Val;TUBB4A(ENST00000264071):Gly244Asp;TUBB4A(ENST00000264071):Gly244Ser"]
["TUBE1",201,"Glu",202,"TUBB8(ENST00000309812):Glu194Lys"]
["TYK2",796,"Asp",866,"JAK3(ENST00000458235):Asp707Ala"]
["TYRO3",562,"Ile",666,"MERTK(ENST00000295408):Ile631Met"]
["TYRP1",266,"Met",271,"TYR(ENST00000263321):Met252Arg"]
["UGT1A1",334,"Leu",352,"UGT1A6(ENST00000305139):Leu333Gln;UGT1A10(ENST00000344644):Leu331Gln;UGT1A9(ENST00000354728):Leu331Gln;UGT1A4(ENST00000373409):Leu335Gln;UGT1A5(ENST00000373414):Leu335Gln;UGT1A7(ENST00000373426):Leu331Gln;UGT1A3(ENST00000482026):Leu335Gln"]
["UGT1A1",400,"Asn",421,"UGT1A6(ENST00000305139):Asn399Asp;UGT1A10(ENST00000344644):Asn397Asp;UGT1A9(ENST00000354728):Asn397Asp;UGT1A4(ENST00000373409):Asn401Asp;UGT1A5(ENST00000373414):Asn401Asp;UGT1A7(ENST00000373426):Asn397Asp;UGT1A3(ENST00000482026):Asn401Asp"]
["UGT1A10",440,"Leu",464,"UGT1A6(ENST00000305139):Leu442Pro;UGT1A1(ENST00000609767):Leu443Pro;UGT1A9(ENST00000354728):Leu440Pro;UGT1A4(ENST00000373409):Leu444Pro;UGT1A5(ENST00000373414):Leu444Pro;UGT1A7(ENST00000373426):Leu440Pro;UGT1A3(ENST00000482026):Leu444Pro"]
["UGT1A3",368,"Arg",388,"UGT1A6(ENST00000305139):Arg366Gly;UGT1A1(ENST00000609767):Arg367Gly;UGT1A10(ENST00000344644):Arg364Gly;UGT1A9(ENST00000354728):Arg364Gly;UGT1A4(ENST00000373409):Arg368Gly;UGT1A5(ENST00000373414):Arg368Gly;UGT1A7(ENST00000373426):Arg364Gly;UGT1A6(ENST00000305139):Arg366Cys;UGT1A1(ENST00000609767):Arg367Cys;UGT1A10(ENST00000344644):Arg364Cys;UGT1A9(ENST00000354728):Arg364Cys;UGT1A4(ENST00000373409):Arg368Cys;UGT1A5(ENST00000373414):Arg368Cys;UGT1A7(ENST00000373426):Arg364Cys"]
["UGT1A4",297,"Ala",313,"UGT1A8(ENST00000305208):Ala293Val"]
["UGT1A5",178,"Cys",189,"UGT1A1(ENST00000609767):Cys177Arg;UGT1A1(ENST00000609767):Cys177Tyr"]
["UGT1A5",396,"Gly",416,"UGT1A6(ENST00000305139):Gly394Val;UGT1A1(ENST00000609767):Gly395Val;UGT1A10(ENST00000344644):Gly392Val;UGT1A9(ENST00000354728):Gly392Val;UGT1A4(ENST00000373409):Gly396Val;UGT1A7(ENST00000373426):Gly392Val;UGT1A3(ENST00000482026):Gly396Val"]
["UGT1A6",460,"Trp",482,"UGT1A1(ENST00000609767):Trp461Arg;UGT1A10(ENST00000344644):Trp458Arg;UGT1A9(ENST00000354728):Trp458Arg;UGT1A4(ENST00000373409):Trp462Arg;UGT1A5(ENST00000373414):Trp462Arg;UGT1A7(ENST00000373426):Trp458Arg;UGT1A3(ENST00000482026):Trp462Arg"]
["UGT1A7",289,"Ala",309,"UGT1A6(ENST00000305139):Ala291Val;UGT1A1(ENST00000609767):Ala292Val;UGT1A10(ENST00000344644):Ala289Val;UGT1A9(ENST00000354728):Ala289Val;UGT1A4(ENST00000373409):Ala293Val;UGT1A5(ENST00000373414):Ala293Val;UGT1A3(ENST00000482026):Ala293Val"]
["UGT1A8",351,"Trp",375,"UGT1A6(ENST00000305139):Trp353Arg;UGT1A1(ENST00000609767):Trp354Arg;UGT1A10(ENST00000344644):Trp351Arg;UGT1A9(ENST00000354728):Trp351Arg;UGT1A4(ENST00000373409):Trp355Arg;UGT1A5(ENST00000373414):Trp355Arg;UGT1A7(ENST00000373426):Trp351Arg;UGT1A3(ENST00000482026):Trp355Arg"]
["UGT1A8",398,"Ala",422,"UGT1A6(ENST00000305139):Ala400Pro;UGT1A1(ENST00000609767):Ala401Pro;UGT1A10(ENST00000344644):Ala398Pro;UGT1A9(ENST00000354728):Ala398Pro;UGT1A4(ENST00000373409):Ala402Pro;UGT1A5(ENST00000373414):Ala402Pro;UGT1A7(ENST00000373426):Ala398Pro;UGT1A3(ENST00000482026):Ala402Pro"]
["UGT1A9",359,"Gly",383,"UGT1A6(ENST00000305139):Gly361Ser;UGT1A1(ENST00000609767):Gly362Ser;UGT1A10(ENST00000344644):Gly359Ser;UGT1A4(ENST00000373409):Gly363Ser;UGT1A5(ENST00000373414):Gly363Ser;UGT1A7(ENST00000373426):Gly359Ser;UGT1A3(ENST00000482026):Gly363Ser"]
["UGT2A2",317,"Gly",325,"UGT1A6(ENST00000305139):Gly307Glu;UGT1A1(ENST00000609767):Gly308Glu;UGT1A10(ENST00000344644):Gly305Glu;UGT1A9(ENST00000354728):Gly305Glu;UGT1A4(ENST00000373409):Gly309Glu;UGT1A5(ENST00000373414):Gly309Glu;UGT1A7(ENST00000373426):Gly305Glu;UGT1A3(ENST00000482026):Gly309Glu"]
["UGT2A3",368,"Ala",389,"UGT1A6(ENST00000305139):Ala367Thr;UGT1A1(ENST00000609767):Ala368Thr;UGT1A10(ENST00000344644):Ala365Thr;UGT1A9(ENST00000354728):Ala365Thr;UGT1A4(ENST00000373409):Ala369Thr;UGT1A5(ENST00000373414):Ala369Thr;UGT1A7(ENST00000373426):Ala365Thr;UGT1A3(ENST00000482026):Ala369Thr"]
["UGT2B11",394,"Pro",413,"UGT1A6(ENST00000305139):Pro391Leu;UGT1A1(ENST00000609767):Pro392Leu;UGT1A10(ENST00000344644):Pro389Leu;UGT1A9(ENST00000354728):Pro389Leu;UGT1A4(ENST00000373409):Pro393Leu;UGT1A5(ENST00000373414):Pro393Leu;UGT1A7(ENST00000373426):Pro389Leu;UGT1A3(ENST00000482026):Pro393Leu"]
["UGT2B15",36,"Trp",46,"UGT1A1(ENST00000609767):Trp40Arg"]
["UGT2B17",481,"Ala",499,"UGT1A6(ENST00000305139):Ala477Asp;UGT1A1(ENST00000609767):Ala478Asp;UGT1A10(ENST00000344644):Ala475Asp;UGT1A9(ENST00000354728):Ala475Asp;UGT1A4(ENST00000373409):Ala479Asp;UGT1A5(ENST00000373414):Ala479Asp;UGT1A7(ENST00000373426):Ala475Asp;UGT1A3(ENST00000482026):Ala479Asp"]
["UGT2B28",336,"Leu",352,"UGT1A6(ENST00000305139):Leu333Gln;UGT1A1(ENST00000609767):Leu334Gln;UGT1A10(ENST00000344644):Leu331Gln;UGT1A9(ENST00000354728):Leu331Gln;UGT1A4(ENST00000373409):Leu335Gln;UGT1A5(ENST00000373414):Leu335Gln;UGT1A7(ENST00000373426):Leu331Gln;UGT1A3(ENST00000482026):Leu335Gln"]
["UGT2B7",278,"Gly",293,"UGT1A1(ENST00000609767):Gly276Arg"]
["UGT3A1",389,"Pro",413,"UGT1A6(ENST00000305139):Pro391Leu;UGT1A1(ENST00000609767):Pro392Leu;UGT1A10(ENST00000344644):Pro389Leu;UGT1A9(ENST00000354728):Pro389Leu;UGT1A4(ENST00000373409):Pro393Leu;UGT1A5(ENST00000373414):Pro393Leu;UGT1A7(ENST00000373426):Pro389Leu;UGT1A3(ENST00000482026):Pro393Leu"]
["UGT3A2",325,"Gln",349,"UGT1A6(ENST00000305139):Gln330Arg;UGT1A1(ENST00000609767):Gln331Arg;UGT1A10(ENST00000344644):Gln328Arg;UGT1A9(ENST00000354728):Gln328Arg;UGT1A4(ENST00000373409):Gln332Arg;UGT1A5(ENST00000373414):Gln332Arg;UGT1A7(ENST00000373426):Gln328Arg;UGT1A3(ENST00000482026):Gln332Arg"]
["UQCRC1",165,"Arg",175,"PMPCB(ENST00000249269):Arg175Cys;PMPCB(ENST00000249269):Arg175His"]
["VARS",383,"His",384,"VARS2(ENST00000541562):His215Tyr"]
["VIM",10,"Ser",16,"DES(ENST00000373960):Ser13Phe"]
["VIM",209,"Asp",228,"DES(ENST00000373960):Asp214Tyr;DES(ENST00000373960):Asp214Val"]
["VIM",407,"Glu",430,"GFAP(ENST00000586793):Glu373Asp;GFAP(ENST00000586793):Glu373Ala;GFAP(ENST00000586793):Glu373Gln;GFAP(ENST00000586793):Glu373Lys"]
["VIPR2",57,"Asp",153,"GCGR(ENST00000400723):Asp63Asn"]
["VLDLR",145,"Asp",159,"LDLR(ENST00000558518):Asp100Asn;LDLR(ENST00000558518):Asp100Gly;LDLR(ENST00000558518):Asp100Glu"]
["VLDLR",296,"Gln",318,"LDLR(ENST00000558518):Gln254Pro;LDLR(ENST00000558518):Gln254His"]
["VLDLR",400,"Cys",422,"LDLR(ENST00000558518):Cys358Arg;LDLR(ENST00000558518):Cys358Tyr;LDLR(ENST00000558518):Cys358Ser"]
["VLDLR",473,"Ala",496,"LDLR(ENST00000558518):Ala431Thr;LDLR(ENST00000558518):Ala431Pro;LDLR(ENST00000558518):Ala431Val"]
["VLDLR",530,"Thr",556,"LDLR(ENST00000558518):Thr491Asn"]
["VLDLR",705,"Trp",731,"LDLR(ENST00000558518):Trp666Leu"]
["VSX1",216,"Arg",224,"VSX2(ENST00000261980):Arg200Gln;VSX2(ENST00000261980):Arg200Pro"]
["WDR5",104,"Ser",320,"PAFAH1B1(ENST00000397195):Ser167Pro;PAFAH1B1(ENST00000397195):Ser167Phe"]
["WDR61",273,"His",582,"PAFAH1B1(ENST00000397195):His379Tyr"]
["WISP1",273,"Cys",333,"WISP3(ENST00000361714):Cys286Gly"]
["WNT10B",278,"Arg",309,"WNT9B(ENST00000290015):Arg241His"]
["WNT2",41,"Cys",89,"WNT5A(ENST00000474267):Cys69Tyr"]
["WNT2",137,"Cys",196,"WNT1(ENST00000293549):Cys153Gly"]
["WNT2B",149,"Gly",177,"WNT1(ENST00000293549):Gly134Val"]
["WNT2B",156,"Arg",184,"WNT1(ENST00000293549):Arg141Cys"]
["WNT2B",158,"Cys",186,"WNT1(ENST00000293549):Cys143Phe"]
["WNT2B",161,"Gly",189,"WNT1(ENST00000293549):Gly146Arg"]
["WNT2B",164,"Ser",192,"WNT5A(ENST00000474267):Ser160Cys"]
["WNT2B",168,"Cys",196,"WNT1(ENST00000293549):Cys153Gly"]
["WNT2B",185,"Trp",231,"WNT1(ENST00000293549):Trp167Cys"]
["WNT2B",187,"Gly",233,"WNT1(ENST00000293549):Gly169Cys;WNT1(ENST00000293549):Gly169Asp"]
["WNT2B",188,"Cys",234,"WNT5A(ENST00000474267):Cys182Ser;WNT5A(ENST00000474267):Cys182Arg"]
["WNT2B",195,"Gly",241,"WNT1(ENST00000293549):Gly177Cys"]
["WNT2B",221,"Asn",279,"WNT7A(ENST00000285018):Asn184Asp"]
["WNT2B",226,"Arg",284,"WNT1(ENST00000293549):Arg207His"]
["WNT2B",237,"Cys",295,"WNT1(ENST00000293549):Cys218Gly"]
["WNT2B",241,"Gly",299,"WNT7A(ENST00000285018):Gly204Ser"]
["WNT2B",244,"Gly",302,"WNT1(ENST00000293549):Gly225Val"]
["WNT2B",245,"Ser",303,"WNT1(ENST00000293549):Ser226Leu"]
["WNT2B",259,"Arg",317,"WNT7A(ENST00000285018):Arg222Trp"]
["WNT2B",323,"Arg",390,"WNT1(ENST00000293549):Arg313Cys;WNT7A(ENST00000285018):Arg292Cys"]
["WNT2B",334,"Gly",401,"WNT1(ENST00000293549):Gly324Cys"]
["WNT2B",343,"Gly",410,"WNT7A(ENST00000285018):Gly312Ser"]
["WNT2B",361,"Trp",428,"WNT1(ENST00000293549):Trp351Arg"]
["WNT2B",365,"Val",432,"WNT1(ENST00000293549):Val355Phe"]
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["WNT7B",38,"Cys",89,"WNT5A(ENST00000474267):Cys69Tyr"]
["WNT7B",52,"Cys",107,"WNT5A(ENST00000474267):Cys83Trp;WNT5A(ENST00000474267):Cys83Ser"]
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["WNT7B",78,"Arg",133,"WNT4(ENST00000290167):Arg83Trp"]
["WNT7B",81,"Arg",136,"WNT3A(ENST00000284523):Arg85Gln;WNT1(ENST00000293549):Arg101Cys"]
["WNT7B",84,"Cys",139,"WNT3(ENST00000225512):Cys91Arg"]
["WNT7B",102,"Arg",165,"WNT7A(ENST00000285018):Arg102Trp"]
["WNT7B",103,"Glu",166,"WNT1(ENST00000293549):Glu123Asp"]
["WNT7B",109,"Ala",172,"WNT4(ENST00000290167):Ala114Val;WNT1(ENST00000293549):Ala129Thr;WNT7A(ENST00000285018):Ala109Thr"]
["WNT7B",113,"Ala",176,"WNT1(ENST00000293549):Ala133Thr"]
["WNT7B",114,"Gly",177,"WNT1(ENST00000293549):Gly134Val"]
["WNT7B",123,"Cys",186,"WNT1(ENST00000293549):Cys143Phe"]
["WNT7B",126,"Gly",189,"WNT1(ENST00000293549):Gly146Arg"]
["WNT7B",129,"Ser",192,"WNT5A(ENST00000474267):Ser160Cys"]
["WNT7B",132,"Gly",195,"WNT5A(ENST00000474267):Gly163Arg"]
["WNT7B",133,"Cys",196,"WNT1(ENST00000293549):Cys153Gly"]
["WNT7B",149,"Trp",231,"WNT1(ENST00000293549):Trp167Cys"]
["WNT7B",151,"Gly",233,"WNT1(ENST00000293549):Gly169Cys;WNT1(ENST00000293549):Gly169Asp"]
["WNT7B",152,"Cys",234,"WNT5A(ENST00000474267):Cys182Ser;WNT5A(ENST00000474267):Cys182Arg"]
["WNT7B",159,"Gly",241,"WNT1(ENST00000293549):Gly177Cys"]
["WNT7B",184,"Asn",279,"WNT7A(ENST00000285018):Asn184Asp"]
["WNT7B",187,"Ala",282,"WNT1(ENST00000293549):Ala205Gly"]
["WNT7B",189,"Arg",284,"WNT1(ENST00000293549):Arg207His"]
["WNT7B",200,"Cys",295,"WNT1(ENST00000293549):Cys218Gly"]
["WNT7B",204,"Gly",299,"WNT7A(ENST00000285018):Gly204Ser"]
["WNT7B",207,"Gly",302,"WNT1(ENST00000293549):Gly225Val"]
["WNT7B",208,"Ser",303,"WNT1(ENST00000293549):Ser226Leu"]
["WNT7B",222,"Arg",317,"WNT7A(ENST00000285018):Arg222Trp"]
["WNT7B",292,"Arg",390,"WNT1(ENST00000293549):Arg313Cys;WNT7A(ENST00000285018):Arg292Cys"]
["WNT7B",303,"Gly",401,"WNT1(ENST00000293549):Gly324Cys"]
["WNT7B",312,"Gly",410,"WNT7A(ENST00000285018):Gly312Ser"]
["WNT7B",330,"Trp",428,"WNT1(ENST00000293549):Trp351Arg"]
["WNT7B",334,"Val",432,"WNT1(ENST00000293549):Val355Phe"]
["WNT8A",71,"Glu",111,"WNT10A(ENST00000258411):Glu95Lys"]
["WNT8A",72,"Cys",112,"WNT10A(ENST00000258411):Cys96Arg"]
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["WNT8A",112,"Ala",155,"WNT10A(ENST00000258411):Ala139Val"]
["WNT8A",149,"Gly",229,"WNT10A(ENST00000258411):Gly213Ser"]
["WNT8A",157,"Gly",237,"WNT10A(ENST00000258411):Gly221Arg"]
["WNT8A",159,"Arg",239,"WNT10A(ENST00000258411):Arg223Cys"]
["WNT8A",164,"Phe",244,"WNT10A(ENST00000258411):Phe228Ile"]
["WNT8A",200,"Cys",280,"WNT10B(ENST00000301061):Cys249Phe"]
["WNT8A",202,"Gly",282,"WNT10A(ENST00000258411):Gly266Ser;WNT10A(ENST00000258411):Gly266Cys"]
["WNT8A",206,"Ser",286,"WNT10A(ENST00000258411):Ser270Arg"]
["WNT8A",212,"Cys",292,"WNT10A(ENST00000258411):Cys276Ser;WNT10A(ENST00000258411):Cys276Arg"]
["WNT8A",233,"Ala",313,"WNT10A(ENST00000258411):Ala297Thr"]
["WNT8A",277,"Cys",369,"WNT10A(ENST00000258411):Cys346Arg"]
["WNT8A",287,"Gly",379,"WNT10A(ENST00000258411):Gly356Cys"]
["WNT8A",288,"Thr",380,"WNT10B(ENST00000301061):Thr329Arg;WNT10B(ENST00000301061):Thr329Lys;WNT10A(ENST00000258411):Thr357Ile"]
["WNT8A",291,"Arg",383,"WNT10B(ENST00000301061):Arg332Trp;WNT10A(ENST00000258411):Arg360Cys"]
["WNT8A",293,"Cys",385,"WNT10A(ENST00000258411):Cys362Arg"]
["WNT8A",354,"Cys",446,"WNT10A(ENST00000258411):Cys416Tyr"]
["WNT8B",53,"Glu",111,"WNT10A(ENST00000258411):Glu95Lys"]
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["WNT8B",94,"Ala",155,"WNT10A(ENST00000258411):Ala139Val"]
["WNT8B",118,"Arg",179,"WNT10A(ENST00000258411):Arg163Trp"]
["WNT8B",131,"Gly",229,"WNT10A(ENST00000258411):Gly213Ser"]
["WNT8B",139,"Gly",237,"WNT10A(ENST00000258411):Gly221Arg"]
["WNT8B",146,"Phe",244,"WNT10A(ENST00000258411):Phe228Ile"]
["WNT8B",182,"Cys",280,"WNT10B(ENST00000301061):Cys249Phe"]
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["WNT8B",188,"Ser",286,"WNT10A(ENST00000258411):Ser270Arg"]
["WNT8B",194,"Cys",292,"WNT10A(ENST00000258411):Cys276Ser;WNT10A(ENST00000258411):Cys276Arg"]
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["WNT8B",272,"Cys",385,"WNT10A(ENST00000258411):Cys362Arg"]
["WNT8B",274,"Arg",387,"WNT9B(ENST00000290015):Arg307Trp"]
["WNT8B",333,"Cys",446,"WNT10A(ENST00000258411):Cys416Tyr"]
["WNT9A",21,"Leu",34,"WNT10A(ENST00000258411):Leu29Arg"]
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["ZEB2",722,"Pro",728,"ZEB1(ENST00000361642):Pro650Ala"]
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["ZNF532",1010,"Pro",1092,"ZNF687(ENST00000324048):Pro937Arg"]
["ZNF592",279,"Ser",318,"ZNF687(ENST00000324048):Ser242Ile"]
["ZNF592",703,"Pro",819,"ZNF687(ENST00000324048):Pro665Leu"]
["ZNF592",819,"Gln",938,"ZNF687(ENST00000324048):Gln784Glu"]