Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
3	g.69964998_69965010dup	CA1139658160	MITF	c.1265_1277dup (p.Asp427TyrfsTer22) c.1262_1274dup (p.Asp426TyrfsTer22) n.1487_1499dup c.1238_1250dup (p.Asp418TyrfsTer22) c.76_88dup (n.76_88dup) c.1331_1343dup (p.Asp449TyrfsTer22) c.1010_1022dup (p.Asp342TyrfsTer22) c.1310_1322dup (p.Asp442TyrfsTer22) c.1313_1325dup (p.Asp443TyrfsTer22) c.992_1004dup (p.Asp336TyrfsTer22) c.1157_1169dup (p.Asp391TyrfsTer22) c.657_669dup (n.657_669dup) c.824_836dup (p.Asp280TyrfsTer22) c.1283_1295dup (p.Asp433TyrfsTer22) c.1175_1187dup (p.Asp397TyrfsTer22) c.1328_1340dup (p.Asp448TyrfsTer22) c.1280_1292dup (p.Asp432TyrfsTer22) c.1163_1175dup (p.Asp393TyrfsTer22) c.1145_1157dup (p.Asp387TyrfsTer22)	ClinVar dbSNP
3	g.69965010_69965011del	CA2586972657	MITF	c.1277_1278del (p.Leu426ArgfsTer18) c.1274_1275del (p.Leu425ArgfsTer18) n.1499_1500del c.1250_1251del (p.Leu417ArgfsTer18) c.88_89del (n.88_89del) c.1343_1344del (p.Leu448ArgfsTer18) c.1022_1023del (p.Leu341ArgfsTer18) c.1322_1323del (p.Leu441ArgfsTer18) c.1325_1326del (p.Leu442ArgfsTer18) c.1004_1005del (p.Leu335ArgfsTer18) c.1169_1170del (p.Leu390ArgfsTer18) c.669_670del (n.669_670del) c.836_837del (p.Leu279ArgfsTer18) c.1295_1296del (p.Leu432ArgfsTer18) c.1187_1188del (p.Leu396ArgfsTer18) c.1340_1341del (p.Leu447ArgfsTer18) c.1292_1293del (p.Leu431ArgfsTer18) c.1175_1176del (p.Leu392ArgfsTer18) c.1157_1158del (p.Leu386ArgfsTer18)
3	g.69965010T>A	CA353559647	MITF	c.1277T>A (p.Leu426His) c.1274T>A (p.Leu425His) n.1499T>A c.1250T>A (p.Leu417His) c.88T>A (n.88T>A) c.1343T>A (p.Leu448His) c.1022T>A (p.Leu341His) c.1322T>A (p.Leu441His) c.1325T>A (p.Leu442His) c.1004T>A (p.Leu335His) c.1169T>A (p.Leu390His) c.669T>A (n.669T>A) c.836T>A (p.Leu279His) c.1295T>A (p.Leu432His) c.1187T>A (p.Leu396His) c.1340T>A (p.Leu447His) c.1292T>A (p.Leu431His) c.1175T>A (p.Leu392His) c.1157T>A (p.Leu386His)
3	g.69965010T>C	CA353559648	MITF	c.1277T>C (p.Leu426Pro) c.1274T>C (p.Leu425Pro) n.1499T>C c.1250T>C (p.Leu417Pro) c.88T>C (n.88T>C) c.1343T>C (p.Leu448Pro) c.1022T>C (p.Leu341Pro) c.1322T>C (p.Leu441Pro) c.1325T>C (p.Leu442Pro) c.1004T>C (p.Leu335Pro) c.1169T>C (p.Leu390Pro) c.669T>C (n.669T>C) c.836T>C (p.Leu279Pro) c.1295T>C (p.Leu432Pro) c.1187T>C (p.Leu396Pro) c.1340T>C (p.Leu447Pro) c.1292T>C (p.Leu431Pro) c.1175T>C (p.Leu392Pro) c.1157T>C (p.Leu386Pro)	dbSNP gnomAD v3 gnomAD v4
3	g.69965010T>G	CA353559649	MITF	c.1277T>G (p.Leu426Arg) c.1274T>G (p.Leu425Arg) n.1499T>G c.1250T>G (p.Leu417Arg) c.88T>G (n.88T>G) c.1343T>G (p.Leu448Arg) c.1022T>G (p.Leu341Arg) c.1322T>G (p.Leu441Arg) c.1325T>G (p.Leu442Arg) c.1004T>G (p.Leu335Arg) c.1169T>G (p.Leu390Arg) c.669T>G (n.669T>G) c.836T>G (p.Leu279Arg) c.1295T>G (p.Leu432Arg) c.1187T>G (p.Leu396Arg) c.1340T>G (p.Leu447Arg) c.1292T>G (p.Leu431Arg) c.1175T>G (p.Leu392Arg) c.1157T>G (p.Leu386Arg)	dbSNP gnomAD v4
3	g.69965010T=	CA1373414147	MITF	c.1277T= (p.Leu426=) c.1274T= (p.Leu425=) n.1499T= c.1250T= (p.Leu417=) c.88T= (n.88T=) c.1343T= (p.Leu448=) c.1022T= (p.Leu341=) c.1322T= (p.Leu441=) c.1325T= (p.Leu442=) c.1004T= (p.Leu335=) c.1169T= (p.Leu390=) c.669T= (n.669T=) c.836T= (p.Leu279=) c.1295T= (p.Leu432=) c.1187T= (p.Leu396=) c.1340T= (p.Leu447=) c.1292T= (p.Leu431=) c.1175T= (p.Leu392=) c.1157T= (p.Leu386=)
3	g.69965011C>A	CA434433715	MITF	c.1278C>A (p.Leu426=) c.1275C>A (p.Leu425=) n.1500C>A c.1251C>A (p.Leu417=) c.89C>A (n.89C>A) c.1344C>A (p.Leu448=) c.1023C>A (p.Leu341=) c.1323C>A (p.Leu441=) c.1326C>A (p.Leu442=) c.1005C>A (p.Leu335=) c.1170C>A (p.Leu390=) c.670C>A (n.670C>A) c.837C>A (p.Leu279=) c.1296C>A (p.Leu432=) c.1188C>A (p.Leu396=) c.1341C>A (p.Leu447=) c.1293C>A (p.Leu431=) c.1176C>A (p.Leu392=) c.1158C>A (p.Leu386=)	gnomAD v4
3	g.69965011C=	CA1373414151	MITF	c.1278C= (p.Leu426=) c.1275C= (p.Leu425=) n.1500C= c.1251C= (p.Leu417=) c.89C= (n.89C=) c.1344C= (p.Leu448=) c.1023C= (p.Leu341=) c.1323C= (p.Leu441=) c.1326C= (p.Leu442=) c.1005C= (p.Leu335=) c.1170C= (p.Leu390=) c.670C= (n.670C=) c.837C= (p.Leu279=) c.1296C= (p.Leu432=) c.1188C= (p.Leu396=) c.1341C= (p.Leu447=) c.1293C= (p.Leu431=) c.1176C= (p.Leu392=) c.1158C= (p.Leu386=)
3	g.69965011C>G	CA434433716	MITF	c.1278C>G (p.Leu426=) c.1275C>G (p.Leu425=) n.1500C>G c.1251C>G (p.Leu417=) c.89C>G (n.89C>G) c.1344C>G (p.Leu448=) c.1023C>G (p.Leu341=) c.1323C>G (p.Leu441=) c.1326C>G (p.Leu442=) c.1005C>G (p.Leu335=) c.1170C>G (p.Leu390=) c.670C>G (n.670C>G) c.837C>G (p.Leu279=) c.1296C>G (p.Leu432=) c.1188C>G (p.Leu396=) c.1341C>G (p.Leu447=) c.1293C>G (p.Leu431=) c.1176C>G (p.Leu392=) c.1158C>G (p.Leu386=)
3	g.69965011C>T	CA2490644	MITF	c.1278C>T (p.Leu426=) c.1275C>T (p.Leu425=) n.1500C>T c.1251C>T (p.Leu417=) c.89C>T (n.89C>T) c.1344C>T (p.Leu448=) c.1023C>T (p.Leu341=) c.1323C>T (p.Leu441=) c.1326C>T (p.Leu442=) c.1005C>T (p.Leu335=) c.1170C>T (p.Leu390=) c.670C>T (n.670C>T) c.837C>T (p.Leu279=) c.1296C>T (p.Leu432=) c.1188C>T (p.Leu396=) c.1341C>T (p.Leu447=) c.1293C>T (p.Leu431=) c.1176C>T (p.Leu392=) c.1158C>T (p.Leu386=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
3	g.69965012G>A	CA77003523	MITF	c.1279G>A (p.Asp427Asn) c.1276G>A (p.Asp426Asn) n.1501G>A c.1252G>A (p.Asp418Asn) c.90G>A (n.90G>A) c.1345G>A (p.Asp449Asn) c.1024G>A (p.Asp342Asn) c.1324G>A (p.Asp442Asn) c.1327G>A (p.Asp443Asn) c.1006G>A (p.Asp336Asn) c.1171G>A (p.Asp391Asn) c.671G>A (n.671G>A) c.838G>A (p.Asp280Asn) c.1297G>A (p.Asp433Asn) c.1189G>A (p.Asp397Asn) c.1342G>A (p.Asp448Asn) c.1294G>A (p.Asp432Asn) c.1177G>A (p.Asp393Asn) c.1159G>A (p.Asp387Asn)	ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC
3	g.69965012G>C	CA353559650	MITF	c.1279G>C (p.Asp427His) c.1276G>C (p.Asp426His) n.1501G>C c.1252G>C (p.Asp418His) c.90G>C (n.90G>C) c.1345G>C (p.Asp449His) c.1024G>C (p.Asp342His) c.1324G>C (p.Asp442His) c.1327G>C (p.Asp443His) c.1006G>C (p.Asp336His) c.1171G>C (p.Asp391His) c.671G>C (n.671G>C) c.838G>C (p.Asp280His) c.1297G>C (p.Asp433His) c.1189G>C (p.Asp397His) c.1342G>C (p.Asp448His) c.1294G>C (p.Asp432His) c.1177G>C (p.Asp393His) c.1159G>C (p.Asp387His)
3	g.69965012G=	CA1373414158	MITF	c.1279G= (p.Asp427=) c.1276G= (p.Asp426=) n.1501G= c.1252G= (p.Asp418=) c.90G= (n.90G=) c.1345G= (p.Asp449=) c.1024G= (p.Asp342=) c.1324G= (p.Asp442=) c.1327G= (p.Asp443=) c.1006G= (p.Asp336=) c.1171G= (p.Asp391=) c.671G= (n.671G=) c.838G= (p.Asp280=) c.1297G= (p.Asp433=) c.1189G= (p.Asp397=) c.1342G= (p.Asp448=) c.1294G= (p.Asp432=) c.1177G= (p.Asp393=) c.1159G= (p.Asp387=)
3	g.69965012G>T	CA353559651	MITF	c.1279G>T (p.Asp427Tyr) c.1276G>T (p.Asp426Tyr) n.1501G>T c.1252G>T (p.Asp418Tyr) c.90G>T (n.90G>T) c.1345G>T (p.Asp449Tyr) c.1024G>T (p.Asp342Tyr) c.1324G>T (p.Asp442Tyr) c.1327G>T (p.Asp443Tyr) c.1006G>T (p.Asp336Tyr) c.1171G>T (p.Asp391Tyr) c.671G>T (n.671G>T) c.838G>T (p.Asp280Tyr) c.1297G>T (p.Asp433Tyr) c.1189G>T (p.Asp397Tyr) c.1342G>T (p.Asp448Tyr) c.1294G>T (p.Asp432Tyr) c.1177G>T (p.Asp393Tyr) c.1159G>T (p.Asp387Tyr)	dbSNP gnomAD v3 gnomAD v4
3	g.69965012delinsAT	CA2586972658	MITF	c.1279delinsAT (p.Asp427IlefsTer18) c.1276delinsAT (p.Asp426IlefsTer18) n.1501delinsAT c.1252delinsAT (p.Asp418IlefsTer18) c.90delinsAT (n.90delinsAT) c.1345delinsAT (p.Asp449IlefsTer18) c.1024delinsAT (p.Asp342IlefsTer18) c.1324delinsAT (p.Asp442IlefsTer18) c.1327delinsAT (p.Asp443IlefsTer18) c.1006delinsAT (p.Asp336IlefsTer18) c.1171delinsAT (p.Asp391IlefsTer18) c.671delinsAT (n.671delinsAT) c.838delinsAT (p.Asp280IlefsTer18) c.1297delinsAT (p.Asp433IlefsTer18) c.1189delinsAT (p.Asp397IlefsTer18) c.1342delinsAT (p.Asp448IlefsTer18) c.1294delinsAT (p.Asp432IlefsTer18) c.1177delinsAT (p.Asp393IlefsTer18) c.1159delinsAT (p.Asp387IlefsTer18)
3	g.69965013A>C	CA353559654	MITF	c.1280A>C (p.Asp427Ala) c.1277A>C (p.Asp426Ala) n.1502A>C c.1253A>C (p.Asp418Ala) c.91A>C (n.91A>C) c.1346A>C (p.Asp449Ala) c.1025A>C (p.Asp342Ala) c.1325A>C (p.Asp442Ala) c.1328A>C (p.Asp443Ala) c.1007A>C (p.Asp336Ala) c.1172A>C (p.Asp391Ala) c.672A>C (n.672A>C) c.839A>C (p.Asp280Ala) c.1298A>C (p.Asp433Ala) c.1190A>C (p.Asp397Ala) c.1343A>C (p.Asp448Ala) c.1295A>C (p.Asp432Ala) c.1178A>C (p.Asp393Ala) c.1160A>C (p.Asp387Ala)
3	g.69965013A>G	CA353559653	MITF	c.1280A>G (p.Asp427Gly) c.1277A>G (p.Asp426Gly) n.1502A>G c.1253A>G (p.Asp418Gly) c.91A>G (n.91A>G) c.1346A>G (p.Asp449Gly) c.1025A>G (p.Asp342Gly) c.1325A>G (p.Asp442Gly) c.1328A>G (p.Asp443Gly) c.1007A>G (p.Asp336Gly) c.1172A>G (p.Asp391Gly) c.672A>G (n.672A>G) c.839A>G (p.Asp280Gly) c.1298A>G (p.Asp433Gly) c.1190A>G (p.Asp397Gly) c.1343A>G (p.Asp448Gly) c.1295A>G (p.Asp432Gly) c.1178A>G (p.Asp393Gly) c.1160A>G (p.Asp387Gly)
3	g.69965013A>T	CA353559652	MITF	c.1280A>T (p.Asp427Val) c.1277A>T (p.Asp426Val) n.1502A>T c.1253A>T (p.Asp418Val) c.91A>T (n.91A>T) c.1346A>T (p.Asp449Val) c.1025A>T (p.Asp342Val) c.1325A>T (p.Asp442Val) c.1328A>T (p.Asp443Val) c.1007A>T (p.Asp336Val) c.1172A>T (p.Asp391Val) c.672A>T (n.672A>T) c.839A>T (p.Asp280Val) c.1298A>T (p.Asp433Val) c.1190A>T (p.Asp397Val) c.1343A>T (p.Asp448Val) c.1295A>T (p.Asp432Val) c.1178A>T (p.Asp393Val) c.1160A>T (p.Asp387Val)
3	g.69965014T>A	CA353559655	MITF	c.1281T>A (p.Asp427Glu) c.1278T>A (p.Asp426Glu) n.1503T>A c.1254T>A (p.Asp418Glu) c.92T>A (n.92T>A) c.1347T>A (p.Asp449Glu) c.1026T>A (p.Asp342Glu) c.1326T>A (p.Asp442Glu) c.1329T>A (p.Asp443Glu) c.1008T>A (p.Asp336Glu) c.1173T>A (p.Asp391Glu) c.673T>A (n.673T>A) c.840T>A (p.Asp280Glu) c.1299T>A (p.Asp433Glu) c.1191T>A (p.Asp397Glu) c.1344T>A (p.Asp448Glu) c.1296T>A (p.Asp432Glu) c.1179T>A (p.Asp393Glu) c.1161T>A (p.Asp387Glu)
3	g.69965014T>C	CA434433719	MITF	c.1281T>C (p.Asp427=) c.1278T>C (p.Asp426=) n.1503T>C c.1254T>C (p.Asp418=) c.92T>C (n.92T>C) c.1347T>C (p.Asp449=) c.1026T>C (p.Asp342=) c.1326T>C (p.Asp442=) c.1329T>C (p.Asp443=) c.1008T>C (p.Asp336=) c.1173T>C (p.Asp391=) c.673T>C (n.673T>C) c.840T>C (p.Asp280=) c.1299T>C (p.Asp433=) c.1191T>C (p.Asp397=) c.1344T>C (p.Asp448=) c.1296T>C (p.Asp432=) c.1179T>C (p.Asp393=) c.1161T>C (p.Asp387=)
3	g.69965014T>G	CA353559656	MITF	c.1281T>G (p.Asp427Glu) c.1278T>G (p.Asp426Glu) n.1503T>G c.1254T>G (p.Asp418Glu) c.92T>G (n.92T>G) c.1347T>G (p.Asp449Glu) c.1026T>G (p.Asp342Glu) c.1326T>G (p.Asp442Glu) c.1329T>G (p.Asp443Glu) c.1008T>G (p.Asp336Glu) c.1173T>G (p.Asp391Glu) c.673T>G (n.673T>G) c.840T>G (p.Asp280Glu) c.1299T>G (p.Asp433Glu) c.1191T>G (p.Asp397Glu) c.1344T>G (p.Asp448Glu) c.1296T>G (p.Asp432Glu) c.1179T>G (p.Asp393Glu) c.1161T>G (p.Asp387Glu)
3	g.69965015C>A	CA353559657	MITF	c.1282C>A (p.Leu428Ile) c.1279C>A (p.Leu427Ile) n.1504C>A c.1255C>A (p.Leu419Ile) c.93C>A (n.93C>A) c.1348C>A (p.Leu450Ile) c.1027C>A (p.Leu343Ile) c.1327C>A (p.Leu443Ile) c.1330C>A (p.Leu444Ile) c.1009C>A (p.Leu337Ile) c.1174C>A (p.Leu392Ile) c.674C>A (n.674C>A) c.841C>A (p.Leu281Ile) c.1300C>A (p.Leu434Ile) c.1192C>A (p.Leu398Ile) c.1345C>A (p.Leu449Ile) c.1297C>A (p.Leu433Ile) c.1180C>A (p.Leu394Ile) c.1162C>A (p.Leu388Ile)
3	g.69965015C=	CA1373414162	MITF	c.1282C= (p.Leu428=) c.1279C= (p.Leu427=) n.1504C= c.1255C= (p.Leu419=) c.93C= (n.93C=) c.1348C= (p.Leu450=) c.1027C= (p.Leu343=) c.1327C= (p.Leu443=) c.1330C= (p.Leu444=) c.1009C= (p.Leu337=) c.1174C= (p.Leu392=) c.674C= (n.674C=) c.841C= (p.Leu281=) c.1300C= (p.Leu434=) c.1192C= (p.Leu398=) c.1345C= (p.Leu449=) c.1297C= (p.Leu433=) c.1180C= (p.Leu394=) c.1162C= (p.Leu388=)
3	g.69965015C>G	CA353559659	MITF	c.1282C>G (p.Leu428Val) c.1279C>G (p.Leu427Val) n.1504C>G c.1255C>G (p.Leu419Val) c.93C>G (n.93C>G) c.1348C>G (p.Leu450Val) c.1027C>G (p.Leu343Val) c.1327C>G (p.Leu443Val) c.1330C>G (p.Leu444Val) c.1009C>G (p.Leu337Val) c.1174C>G (p.Leu392Val) c.674C>G (n.674C>G) c.841C>G (p.Leu281Val) c.1300C>G (p.Leu434Val) c.1192C>G (p.Leu398Val) c.1345C>G (p.Leu449Val) c.1297C>G (p.Leu433Val) c.1180C>G (p.Leu394Val) c.1162C>G (p.Leu388Val)	dbSNP gnomAD v4
3	g.69965015C>T	CA353559658	MITF	c.1282C>T (p.Leu428Phe) c.1279C>T (p.Leu427Phe) n.1504C>T c.1255C>T (p.Leu419Phe) c.93C>T (n.93C>T) c.1348C>T (p.Leu450Phe) c.1027C>T (p.Leu343Phe) c.1327C>T (p.Leu443Phe) c.1330C>T (p.Leu444Phe) c.1009C>T (p.Leu337Phe) c.1174C>T (p.Leu392Phe) c.674C>T (n.674C>T) c.841C>T (p.Leu281Phe) c.1300C>T (p.Leu434Phe) c.1192C>T (p.Leu398Phe) c.1345C>T (p.Leu449Phe) c.1297C>T (p.Leu433Phe) c.1180C>T (p.Leu394Phe) c.1162C>T (p.Leu388Phe)
3	g.69965016T>A	CA353559660	MITF	c.1283T>A (p.Leu428His) c.1280T>A (p.Leu427His) n.1505T>A c.1256T>A (p.Leu419His) c.94T>A (n.94T>A) c.1349T>A (p.Leu450His) c.1028T>A (p.Leu343His) c.1328T>A (p.Leu443His) c.1331T>A (p.Leu444His) c.1010T>A (p.Leu337His) c.1175T>A (p.Leu392His) c.675T>A (n.675T>A) c.842T>A (p.Leu281His) c.1301T>A (p.Leu434His) c.1193T>A (p.Leu398His) c.1346T>A (p.Leu449His) c.1298T>A (p.Leu433His) c.1181T>A (p.Leu394His) c.1163T>A (p.Leu388His)
3	g.69965016T>C	CA353559662	MITF	c.1283T>C (p.Leu428Pro) c.1280T>C (p.Leu427Pro) n.1505T>C c.1256T>C (p.Leu419Pro) c.94T>C (n.94T>C) c.1349T>C (p.Leu450Pro) c.1028T>C (p.Leu343Pro) c.1328T>C (p.Leu443Pro) c.1331T>C (p.Leu444Pro) c.1010T>C (p.Leu337Pro) c.1175T>C (p.Leu392Pro) c.675T>C (n.675T>C) c.842T>C (p.Leu281Pro) c.1301T>C (p.Leu434Pro) c.1193T>C (p.Leu398Pro) c.1346T>C (p.Leu449Pro) c.1298T>C (p.Leu433Pro) c.1181T>C (p.Leu394Pro) c.1163T>C (p.Leu388Pro)	gnomAD v4
3	g.69965016T>G	CA353559661	MITF	c.1283T>G (p.Leu428Arg) c.1280T>G (p.Leu427Arg) n.1505T>G c.1256T>G (p.Leu419Arg) c.94T>G (n.94T>G) c.1349T>G (p.Leu450Arg) c.1028T>G (p.Leu343Arg) c.1328T>G (p.Leu443Arg) c.1331T>G (p.Leu444Arg) c.1010T>G (p.Leu337Arg) c.1175T>G (p.Leu392Arg) c.675T>G (n.675T>G) c.842T>G (p.Leu281Arg) c.1301T>G (p.Leu434Arg) c.1193T>G (p.Leu398Arg) c.1346T>G (p.Leu449Arg) c.1298T>G (p.Leu433Arg) c.1181T>G (p.Leu394Arg) c.1163T>G (p.Leu388Arg)
3	g.69965017C>A	CA434433720	MITF	c.1284C>A (p.Leu428=) c.1281C>A (p.Leu427=) n.1506C>A c.1257C>A (p.Leu419=) c.95C>A (n.95C>A) c.1350C>A (p.Leu450=) c.1029C>A (p.Leu343=) c.1329C>A (p.Leu443=) c.1332C>A (p.Leu444=) c.1011C>A (p.Leu337=) c.1176C>A (p.Leu392=) c.676C>A (n.676C>A) c.843C>A (p.Leu281=) c.1302C>A (p.Leu434=) c.1194C>A (p.Leu398=) c.1347C>A (p.Leu449=) c.1299C>A (p.Leu433=) c.1182C>A (p.Leu394=) c.1164C>A (p.Leu388=)
3	g.69965017C=	CA1373414166	MITF	c.1284C= (p.Leu428=) c.1281C= (p.Leu427=) n.1506C= c.1257C= (p.Leu419=) c.95C= (n.95C=) c.1350C= (p.Leu450=) c.1029C= (p.Leu343=) c.1329C= (p.Leu443=) c.1332C= (p.Leu444=) c.1011C= (p.Leu337=) c.1176C= (p.Leu392=) c.676C= (n.676C=) c.843C= (p.Leu281=) c.1302C= (p.Leu434=) c.1194C= (p.Leu398=) c.1347C= (p.Leu449=) c.1299C= (p.Leu433=) c.1182C= (p.Leu394=) c.1164C= (p.Leu388=)
3	g.69965017C>G	CA434433721	MITF	c.1284C>G (p.Leu428=) c.1281C>G (p.Leu427=) n.1506C>G c.1257C>G (p.Leu419=) c.95C>G (n.95C>G) c.1350C>G (p.Leu450=) c.1029C>G (p.Leu343=) c.1329C>G (p.Leu443=) c.1332C>G (p.Leu444=) c.1011C>G (p.Leu337=) c.1176C>G (p.Leu392=) c.676C>G (n.676C>G) c.843C>G (p.Leu281=) c.1302C>G (p.Leu434=) c.1194C>G (p.Leu398=) c.1347C>G (p.Leu449=) c.1299C>G (p.Leu433=) c.1182C>G (p.Leu394=) c.1164C>G (p.Leu388=)
3	g.69965017C>T	CA2490645	MITF	c.1284C>T (p.Leu428=) c.1281C>T (p.Leu427=) n.1506C>T c.1257C>T (p.Leu419=) c.95C>T (n.95C>T) c.1350C>T (p.Leu450=) c.1029C>T (p.Leu343=) c.1329C>T (p.Leu443=) c.1332C>T (p.Leu444=) c.1011C>T (p.Leu337=) c.1176C>T (p.Leu392=) c.676C>T (n.676C>T) c.843C>T (p.Leu281=) c.1302C>T (p.Leu434=) c.1194C>T (p.Leu398=) c.1347C>T (p.Leu449=) c.1299C>T (p.Leu433=) c.1182C>T (p.Leu394=) c.1164C>T (p.Leu388=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.69965018A>C	CA353559665	MITF	c.1285A>C (p.Thr429Pro) c.1282A>C (p.Thr428Pro) n.1507A>C c.1258A>C (p.Thr420Pro) c.96A>C (n.96A>C) c.1351A>C (p.Thr451Pro) c.1030A>C (p.Thr344Pro) c.1330A>C (p.Thr444Pro) c.1333A>C (p.Thr445Pro) c.1012A>C (p.Thr338Pro) c.1177A>C (p.Thr393Pro) c.677A>C (n.677A>C) c.844A>C (p.Thr282Pro) c.1303A>C (p.Thr435Pro) c.1195A>C (p.Thr399Pro) c.1348A>C (p.Thr450Pro) c.1300A>C (p.Thr434Pro) c.1183A>C (p.Thr395Pro) c.1165A>C (p.Thr389Pro)	gnomAD v4
3	g.69965018A>G	CA353559663	MITF	c.1285A>G (p.Thr429Ala) c.1282A>G (p.Thr428Ala) n.1507A>G c.1258A>G (p.Thr420Ala) c.96A>G (n.96A>G) c.1351A>G (p.Thr451Ala) c.1030A>G (p.Thr344Ala) c.1330A>G (p.Thr444Ala) c.1333A>G (p.Thr445Ala) c.1012A>G (p.Thr338Ala) c.1177A>G (p.Thr393Ala) c.677A>G (n.677A>G) c.844A>G (p.Thr282Ala) c.1303A>G (p.Thr435Ala) c.1195A>G (p.Thr399Ala) c.1348A>G (p.Thr450Ala) c.1300A>G (p.Thr434Ala) c.1183A>G (p.Thr395Ala) c.1165A>G (p.Thr389Ala)	ClinVar gnomAD v4
3	g.69965018A>T	CA353559664	MITF	c.1285A>T (p.Thr429Ser) c.1282A>T (p.Thr428Ser) n.1507A>T c.1258A>T (p.Thr420Ser) c.96A>T (n.96A>T) c.1351A>T (p.Thr451Ser) c.1030A>T (p.Thr344Ser) c.1330A>T (p.Thr444Ser) c.1333A>T (p.Thr445Ser) c.1012A>T (p.Thr338Ser) c.1177A>T (p.Thr393Ser) c.677A>T (n.677A>T) c.844A>T (p.Thr282Ser) c.1303A>T (p.Thr435Ser) c.1195A>T (p.Thr399Ser) c.1348A>T (p.Thr450Ser) c.1300A>T (p.Thr434Ser) c.1183A>T (p.Thr395Ser) c.1165A>T (p.Thr389Ser)
3	g.69965019C>A	CA353559666	MITF	c.1286C>A (p.Thr429Lys) c.1283C>A (p.Thr428Lys) n.1508C>A c.1259C>A (p.Thr420Lys) c.97C>A (n.97C>A) c.1352C>A (p.Thr451Lys) c.1031C>A (p.Thr344Lys) c.1331C>A (p.Thr444Lys) c.1334C>A (p.Thr445Lys) c.1013C>A (p.Thr338Lys) c.1178C>A (p.Thr393Lys) c.678C>A (n.678C>A) c.845C>A (p.Thr282Lys) c.1304C>A (p.Thr435Lys) c.1196C>A (p.Thr399Lys) c.1349C>A (p.Thr450Lys) c.1301C>A (p.Thr434Lys) c.1184C>A (p.Thr395Lys) c.1166C>A (p.Thr389Lys)
3	g.69965019C=	CA1373414175	MITF	c.1286C= (p.Thr429=) c.1283C= (p.Thr428=) n.1508C= c.1259C= (p.Thr420=) c.97C= (n.97C=) c.1352C= (p.Thr451=) c.1031C= (p.Thr344=) c.1331C= (p.Thr444=) c.1334C= (p.Thr445=) c.1013C= (p.Thr338=) c.1178C= (p.Thr393=) c.678C= (n.678C=) c.845C= (p.Thr282=) c.1304C= (p.Thr435=) c.1196C= (p.Thr399=) c.1349C= (p.Thr450=) c.1301C= (p.Thr434=) c.1184C= (p.Thr395=) c.1166C= (p.Thr389=)
3	g.69965019C>G	CA353559667	MITF	c.1286C>G (p.Thr429Arg) c.1283C>G (p.Thr428Arg) n.1508C>G c.1259C>G (p.Thr420Arg) c.97C>G (n.97C>G) c.1352C>G (p.Thr451Arg) c.1031C>G (p.Thr344Arg) c.1331C>G (p.Thr444Arg) c.1334C>G (p.Thr445Arg) c.1013C>G (p.Thr338Arg) c.1178C>G (p.Thr393Arg) c.678C>G (n.678C>G) c.845C>G (p.Thr282Arg) c.1304C>G (p.Thr435Arg) c.1196C>G (p.Thr399Arg) c.1349C>G (p.Thr450Arg) c.1301C>G (p.Thr434Arg) c.1184C>G (p.Thr395Arg) c.1166C>G (p.Thr389Arg)
3	g.69965019C>T	CA2490646	MITF	c.1286C>T (p.Thr429Met) c.1283C>T (p.Thr428Met) n.1508C>T c.1259C>T (p.Thr420Met) c.97C>T (n.97C>T) c.1352C>T (p.Thr451Met) c.1031C>T (p.Thr344Met) c.1331C>T (p.Thr444Met) c.1334C>T (p.Thr445Met) c.1013C>T (p.Thr338Met) c.1178C>T (p.Thr393Met) c.678C>T (n.678C>T) c.845C>T (p.Thr282Met) c.1304C>T (p.Thr435Met) c.1196C>T (p.Thr399Met) c.1349C>T (p.Thr450Met) c.1301C>T (p.Thr434Met) c.1184C>T (p.Thr395Met) c.1166C>T (p.Thr389Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
3	g.69965019_69965020delinsCG	CA1373414176	MITF	c.1286_1287delinsCG (p.Thr429=) c.1283_1284delinsCG (p.Thr428=) n.1508_1509delinsCG c.1259_1260delinsCG (p.Thr420=) c.97_98delinsCG (n.97_98delinsCG) c.1352_1353delinsCG (p.Thr451=) c.1031_1032delinsCG (p.Thr344=) c.1331_1332delinsCG (p.Thr444=) c.1334_1335delinsCG (p.Thr445=) c.1013_1014delinsCG (p.Thr338=) c.1178_1179delinsCG (p.Thr393=) c.678_679delinsCG (n.678_679delinsCG) c.845_846delinsCG (p.Thr282=) c.1304_1305delinsCG (p.Thr435=) c.1196_1197delinsCG (p.Thr399=) c.1349_1350delinsCG (p.Thr450=) c.1301_1302delinsCG (p.Thr434=) c.1184_1185delinsCG (p.Thr395=) c.1166_1167delinsCG (p.Thr389=)
3	g.69965020G>A	CA2490648	MITF	c.1287G>A (p.Thr429=) c.1284G>A (p.Thr428=) n.1509G>A c.1260G>A (p.Thr420=) c.98G>A (n.98G>A) c.1353G>A (p.Thr451=) c.1032G>A (p.Thr344=) c.1332G>A (p.Thr444=) c.1335G>A (p.Thr445=) c.1014G>A (p.Thr338=) c.1179G>A (p.Thr393=) c.679G>A (n.679G>A) c.846G>A (p.Thr282=) c.1305G>A (p.Thr435=) c.1197G>A (p.Thr399=) c.1350G>A (p.Thr450=) c.1302G>A (p.Thr434=) c.1185G>A (p.Thr395=) c.1167G>A (p.Thr389=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3	g.69965020G>C	CA434433723	MITF	c.1287G>C (p.Thr429=) c.1284G>C (p.Thr428=) n.1509G>C c.1260G>C (p.Thr420=) c.98G>C (n.98G>C) c.1353G>C (p.Thr451=) c.1032G>C (p.Thr344=) c.1332G>C (p.Thr444=) c.1335G>C (p.Thr445=) c.1014G>C (p.Thr338=) c.1179G>C (p.Thr393=) c.679G>C (n.679G>C) c.846G>C (p.Thr282=) c.1305G>C (p.Thr435=) c.1197G>C (p.Thr399=) c.1350G>C (p.Thr450=) c.1302G>C (p.Thr434=) c.1185G>C (p.Thr395=) c.1167G>C (p.Thr389=)	dbSNP gnomAD v2 gnomAD v4
3	g.69965020G=	CA1373414186	MITF	c.1287G= (p.Thr429=) c.1284G= (p.Thr428=) n.1509G= c.1260G= (p.Thr420=) c.98G= (n.98G=) c.1353G= (p.Thr451=) c.1032G= (p.Thr344=) c.1332G= (p.Thr444=) c.1335G= (p.Thr445=) c.1014G= (p.Thr338=) c.1179G= (p.Thr393=) c.679G= (n.679G=) c.846G= (p.Thr282=) c.1305G= (p.Thr435=) c.1197G= (p.Thr399=) c.1350G= (p.Thr450=) c.1302G= (p.Thr434=) c.1185G= (p.Thr395=) c.1167G= (p.Thr389=)
3	g.69965020G>T	CA2490647	MITF	c.1287G>T (p.Thr429=) c.1284G>T (p.Thr428=) n.1509G>T c.1260G>T (p.Thr420=) c.98G>T (n.98G>T) c.1353G>T (p.Thr451=) c.1032G>T (p.Thr344=) c.1332G>T (p.Thr444=) c.1335G>T (p.Thr445=) c.1014G>T (p.Thr338=) c.1179G>T (p.Thr393=) c.679G>T (n.679G>T) c.846G>T (p.Thr282=) c.1305G>T (p.Thr435=) c.1197G>T (p.Thr399=) c.1350G>T (p.Thr450=) c.1302G>T (p.Thr434=) c.1185G>T (p.Thr395=) c.1167G>T (p.Thr389=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3	g.69965021del	CA1373414184	MITF	c.1288del (p.Asp430MetfsTer?) c.1285del (p.Asp429MetfsTer?) n.1510del c.1261del (p.Asp421MetfsTer?) c.99del (n.99del) c.1354del (p.Asp452MetfsTer?) c.1033del (p.Asp345MetfsTer?) c.1333del (p.Asp445MetfsTer?) c.1336del (p.Asp446MetfsTer?) c.1015del (p.Asp339MetfsTer?) c.1180del (p.Asp394MetfsTer?) c.680del (n.680del) c.847del (p.Asp283MetfsTer?) c.1306del (p.Asp436MetfsTer?) c.1198del (p.Asp400MetfsTer?) c.1351del (p.Asp451MetfsTer?) c.1303del (p.Asp435MetfsTer?) c.1186del (p.Asp396MetfsTer?) c.1168del (p.Asp390MetfsTer?)	dbSNP
3	g.69965020_69965021insA	CA2666480941	MITF	c.1287_1288insA (p.Asp430ArgfsTer15) c.1284_1285insA (p.Asp429ArgfsTer15) n.1509_1510insA c.1260_1261insA (p.Asp421ArgfsTer15) c.98_99insA (n.98_99insA) c.1353_1354insA (p.Asp452ArgfsTer15) c.1032_1033insA (p.Asp345ArgfsTer15) c.1332_1333insA (p.Asp445ArgfsTer15) c.1335_1336insA (p.Asp446ArgfsTer15) c.1014_1015insA (p.Asp339ArgfsTer15) c.1179_1180insA (p.Asp394ArgfsTer15) c.679_680insA (n.679_680insA) c.846_847insA (p.Asp283ArgfsTer15) c.1305_1306insA (p.Asp436ArgfsTer15) c.1197_1198insA (p.Asp400ArgfsTer15) c.1350_1351insA (p.Asp451ArgfsTer15) c.1302_1303insA (p.Asp435ArgfsTer15) c.1185_1186insA (p.Asp396ArgfsTer15) c.1167_1168insA (p.Asp390ArgfsTer15)	gnomAD v4
3	g.69965021G>A	CA353559668	MITF	c.1288G>A (p.Asp430Asn) c.1285G>A (p.Asp429Asn) n.1510G>A c.1261G>A (p.Asp421Asn) c.99G>A (n.99G>A) c.1354G>A (p.Asp452Asn) c.1033G>A (p.Asp345Asn) c.1333G>A (p.Asp445Asn) c.1336G>A (p.Asp446Asn) c.1015G>A (p.Asp339Asn) c.1180G>A (p.Asp394Asn) c.680G>A (n.680G>A) c.847G>A (p.Asp283Asn) c.1306G>A (p.Asp436Asn) c.1198G>A (p.Asp400Asn) c.1351G>A (p.Asp451Asn) c.1303G>A (p.Asp435Asn) c.1186G>A (p.Asp396Asn) c.1168G>A (p.Asp390Asn)	gnomAD v4
3	g.69965021G>C	CA353559669	MITF	c.1288G>C (p.Asp430His) c.1285G>C (p.Asp429His) n.1510G>C c.1261G>C (p.Asp421His) c.99G>C (n.99G>C) c.1354G>C (p.Asp452His) c.1033G>C (p.Asp345His) c.1333G>C (p.Asp445His) c.1336G>C (p.Asp446His) c.1015G>C (p.Asp339His) c.1180G>C (p.Asp394His) c.680G>C (n.680G>C) c.847G>C (p.Asp283His) c.1306G>C (p.Asp436His) c.1198G>C (p.Asp400His) c.1351G>C (p.Asp451His) c.1303G>C (p.Asp435His) c.1186G>C (p.Asp396His) c.1168G>C (p.Asp390His)
3	g.69965021G>T	CA353559670	MITF	c.1288G>T (p.Asp430Tyr) c.1285G>T (p.Asp429Tyr) n.1510G>T c.1261G>T (p.Asp421Tyr) c.99G>T (n.99G>T) c.1354G>T (p.Asp452Tyr) c.1033G>T (p.Asp345Tyr) c.1333G>T (p.Asp445Tyr) c.1336G>T (p.Asp446Tyr) c.1015G>T (p.Asp339Tyr) c.1180G>T (p.Asp394Tyr) c.680G>T (n.680G>T) c.847G>T (p.Asp283Tyr) c.1306G>T (p.Asp436Tyr) c.1198G>T (p.Asp400Tyr) c.1351G>T (p.Asp451Tyr) c.1303G>T (p.Asp435Tyr) c.1186G>T (p.Asp396Tyr) c.1168G>T (p.Asp390Tyr)
3	g.69965021_69965029del	CA645533383	MITF	c.1288_1296del (p.Asp430_Thr432del) c.1285_1293del (p.Asp429_Thr431del) n.1510_1518del c.1261_1269del (p.Asp421_Thr423del) c.99_107del (n.99_107del) c.1354_1362del (p.Asp452_Thr454del) c.1033_1041del (p.Asp345_Thr347del) c.1333_1341del (p.Asp445_Thr447del) c.1336_1344del (p.Asp446_Thr448del) c.1015_1023del (p.Asp339_Thr341del) c.1180_1188del (p.Asp394_Thr396del) c.680_688del (n.680_688del) c.847_855del (p.Asp283_Thr285del) c.1306_1314del (p.Asp436_Thr438del) c.1198_1206del (p.Asp400_Thr402del) c.1351_1359del (p.Asp451_Thr453del) c.1303_1311del (p.Asp435_Thr437del) c.1186_1194del (p.Asp396_Thr398del) c.1168_1176del (p.Asp390_Thr392del)	COSMIC COSMIC
3	g.69965022A=	CA1373414195	MITF	c.1289A= (p.Asp430=) c.1286A= (p.Asp429=) n.1511A= c.1262A= (p.Asp421=) c.100A= (n.100A=) c.1355A= (p.Asp452=) c.1034A= (p.Asp345=) c.1334A= (p.Asp445=) c.1337A= (p.Asp446=) c.1016A= (p.Asp339=) c.1181A= (p.Asp394=) c.681A= (n.681A=) c.848A= (p.Asp283=) c.1307A= (p.Asp436=) c.1199A= (p.Asp400=) c.1352A= (p.Asp451=) c.1304A= (p.Asp435=) c.1187A= (p.Asp396=) c.1169A= (p.Asp390=)
3	g.69965022A>C	CA353559671	MITF	c.1289A>C (p.Asp430Ala) c.1286A>C (p.Asp429Ala) n.1511A>C c.1262A>C (p.Asp421Ala) c.100A>C (n.100A>C) c.1355A>C (p.Asp452Ala) c.1034A>C (p.Asp345Ala) c.1334A>C (p.Asp445Ala) c.1337A>C (p.Asp446Ala) c.1016A>C (p.Asp339Ala) c.1181A>C (p.Asp394Ala) c.681A>C (n.681A>C) c.848A>C (p.Asp283Ala) c.1307A>C (p.Asp436Ala) c.1199A>C (p.Asp400Ala) c.1352A>C (p.Asp451Ala) c.1304A>C (p.Asp435Ala) c.1187A>C (p.Asp396Ala) c.1169A>C (p.Asp390Ala)
3	g.69965022A>G	CA353559672	MITF	c.1289A>G (p.Asp430Gly) c.1286A>G (p.Asp429Gly) n.1511A>G c.1262A>G (p.Asp421Gly) c.100A>G (n.100A>G) c.1355A>G (p.Asp452Gly) c.1034A>G (p.Asp345Gly) c.1334A>G (p.Asp445Gly) c.1337A>G (p.Asp446Gly) c.1016A>G (p.Asp339Gly) c.1181A>G (p.Asp394Gly) c.681A>G (n.681A>G) c.848A>G (p.Asp283Gly) c.1307A>G (p.Asp436Gly) c.1199A>G (p.Asp400Gly) c.1352A>G (p.Asp451Gly) c.1304A>G (p.Asp435Gly) c.1187A>G (p.Asp396Gly) c.1169A>G (p.Asp390Gly)	dbSNP gnomAD v4
3	g.69965022A>T	CA353559673	MITF	c.1289A>T (p.Asp430Val) c.1286A>T (p.Asp429Val) n.1511A>T c.1262A>T (p.Asp421Val) c.100A>T (n.100A>T) c.1355A>T (p.Asp452Val) c.1034A>T (p.Asp345Val) c.1334A>T (p.Asp445Val) c.1337A>T (p.Asp446Val) c.1016A>T (p.Asp339Val) c.1181A>T (p.Asp394Val) c.681A>T (n.681A>T) c.848A>T (p.Asp283Val) c.1307A>T (p.Asp436Val) c.1199A>T (p.Asp400Val) c.1352A>T (p.Asp451Val) c.1304A>T (p.Asp435Val) c.1187A>T (p.Asp396Val) c.1169A>T (p.Asp390Val)
3	g.69965023T>A	CA353559674	MITF	c.1290T>A (p.Asp430Glu) c.1287T>A (p.Asp429Glu) n.1512T>A c.1263T>A (p.Asp421Glu) c.101T>A (n.101T>A) c.1356T>A (p.Asp452Glu) c.1035T>A (p.Asp345Glu) c.1335T>A (p.Asp445Glu) c.1338T>A (p.Asp446Glu) c.1017T>A (p.Asp339Glu) c.1182T>A (p.Asp394Glu) c.682T>A (n.682T>A) c.849T>A (p.Asp283Glu) c.1308T>A (p.Asp436Glu) c.1200T>A (p.Asp400Glu) c.1353T>A (p.Asp451Glu) c.1305T>A (p.Asp435Glu) c.1188T>A (p.Asp396Glu) c.1170T>A (p.Asp390Glu)
3	g.69965023T>C	CA434433724	MITF	c.1290T>C (p.Asp430=) c.1287T>C (p.Asp429=) n.1512T>C c.1263T>C (p.Asp421=) c.101T>C (n.101T>C) c.1356T>C (p.Asp452=) c.1035T>C (p.Asp345=) c.1335T>C (p.Asp445=) c.1338T>C (p.Asp446=) c.1017T>C (p.Asp339=) c.1182T>C (p.Asp394=) c.682T>C (n.682T>C) c.849T>C (p.Asp283=) c.1308T>C (p.Asp436=) c.1200T>C (p.Asp400=) c.1353T>C (p.Asp451=) c.1305T>C (p.Asp435=) c.1188T>C (p.Asp396=) c.1170T>C (p.Asp390=)
3	g.69965023T>G	CA353559675	MITF	c.1290T>G (p.Asp430Glu) c.1287T>G (p.Asp429Glu) n.1512T>G c.1263T>G (p.Asp421Glu) c.101T>G (n.101T>G) c.1356T>G (p.Asp452Glu) c.1035T>G (p.Asp345Glu) c.1335T>G (p.Asp445Glu) c.1338T>G (p.Asp446Glu) c.1017T>G (p.Asp339Glu) c.1182T>G (p.Asp394Glu) c.682T>G (n.682T>G) c.849T>G (p.Asp283Glu) c.1308T>G (p.Asp436Glu) c.1200T>G (p.Asp400Glu) c.1353T>G (p.Asp451Glu) c.1305T>G (p.Asp435Glu) c.1188T>G (p.Asp396Glu) c.1170T>G (p.Asp390Glu)
3	g.69965023_69965025del	CA2666480942	MITF	c.1290_1292del (p.Gly431del) c.1287_1289del (p.Gly430del) n.1512_1514del c.1263_1265del (p.Gly422del) c.101_103del (n.101_103del) c.1356_1358del (p.Gly453del) c.1035_1037del (p.Gly346del) c.1335_1337del (p.Gly446del) c.1338_1340del (p.Gly447del) c.1017_1019del (p.Gly340del) c.1182_1184del (p.Gly395del) c.682_684del (n.682_684del) c.849_851del (p.Gly284del) c.1308_1310del (p.Gly437del) c.1200_1202del (p.Gly401del) c.1353_1355del (p.Gly452del) c.1305_1307del (p.Gly436del) c.1188_1190del (p.Gly397del) c.1170_1172del (p.Gly391del)	gnomAD v4
3	g.69965024G>A	CA353559676	MITF	c.1291G>A (p.Gly431Ser) c.1288G>A (p.Gly430Ser) n.1513G>A c.1264G>A (p.Gly422Ser) c.102G>A (n.102G>A) c.1357G>A (p.Gly453Ser) c.1036G>A (p.Gly346Ser) c.1336G>A (p.Gly446Ser) c.1339G>A (p.Gly447Ser) c.1018G>A (p.Gly340Ser) c.1183G>A (p.Gly395Ser) c.683G>A (n.683G>A) c.850G>A (p.Gly284Ser) c.1309G>A (p.Gly437Ser) c.1201G>A (p.Gly401Ser) c.1354G>A (p.Gly452Ser) c.1306G>A (p.Gly436Ser) c.1189G>A (p.Gly397Ser) c.1171G>A (p.Gly391Ser)
3	g.69965024G>C	CA353559677	MITF	c.1291G>C (p.Gly431Arg) c.1288G>C (p.Gly430Arg) n.1513G>C c.1264G>C (p.Gly422Arg) c.102G>C (n.102G>C) c.1357G>C (p.Gly453Arg) c.1036G>C (p.Gly346Arg) c.1336G>C (p.Gly446Arg) c.1339G>C (p.Gly447Arg) c.1018G>C (p.Gly340Arg) c.1183G>C (p.Gly395Arg) c.683G>C (n.683G>C) c.850G>C (p.Gly284Arg) c.1309G>C (p.Gly437Arg) c.1201G>C (p.Gly401Arg) c.1354G>C (p.Gly452Arg) c.1306G>C (p.Gly436Arg) c.1189G>C (p.Gly397Arg) c.1171G>C (p.Gly391Arg)
3	g.69965024G>T	CA353559678	MITF	c.1291G>T (p.Gly431Cys) c.1288G>T (p.Gly430Cys) n.1513G>T c.1264G>T (p.Gly422Cys) c.102G>T (n.102G>T) c.1357G>T (p.Gly453Cys) c.1036G>T (p.Gly346Cys) c.1336G>T (p.Gly446Cys) c.1339G>T (p.Gly447Cys) c.1018G>T (p.Gly340Cys) c.1183G>T (p.Gly395Cys) c.683G>T (n.683G>T) c.850G>T (p.Gly284Cys) c.1309G>T (p.Gly437Cys) c.1201G>T (p.Gly401Cys) c.1354G>T (p.Gly452Cys) c.1306G>T (p.Gly436Cys) c.1189G>T (p.Gly397Cys) c.1171G>T (p.Gly391Cys)
3	g.69965025G>A	CA353559679	MITF	c.1292G>A (p.Gly431Asp) c.1289G>A (p.Gly430Asp) n.1514G>A c.1265G>A (p.Gly422Asp) c.103G>A (n.103G>A) c.1358G>A (p.Gly453Asp) c.1037G>A (p.Gly346Asp) c.1337G>A (p.Gly446Asp) c.1340G>A (p.Gly447Asp) c.1019G>A (p.Gly340Asp) c.1184G>A (p.Gly395Asp) c.684G>A (n.684G>A) c.851G>A (p.Gly284Asp) c.1310G>A (p.Gly437Asp) c.1202G>A (p.Gly401Asp) c.1355G>A (p.Gly452Asp) c.1307G>A (p.Gly436Asp) c.1190G>A (p.Gly397Asp) c.1172G>A (p.Gly391Asp)	dbSNP gnomAD v4
3	g.69965025G>C	CA353559680	MITF	c.1292G>C (p.Gly431Ala) c.1289G>C (p.Gly430Ala) n.1514G>C c.1265G>C (p.Gly422Ala) c.103G>C (n.103G>C) c.1358G>C (p.Gly453Ala) c.1037G>C (p.Gly346Ala) c.1337G>C (p.Gly446Ala) c.1340G>C (p.Gly447Ala) c.1019G>C (p.Gly340Ala) c.1184G>C (p.Gly395Ala) c.684G>C (n.684G>C) c.851G>C (p.Gly284Ala) c.1310G>C (p.Gly437Ala) c.1202G>C (p.Gly401Ala) c.1355G>C (p.Gly452Ala) c.1307G>C (p.Gly436Ala) c.1190G>C (p.Gly397Ala) c.1172G>C (p.Gly391Ala)	dbSNP gnomAD v4
3	g.69965025G>T	CA353559681	MITF	c.1292G>T (p.Gly431Val) c.1289G>T (p.Gly430Val) n.1514G>T c.1265G>T (p.Gly422Val) c.103G>T (n.103G>T) c.1358G>T (p.Gly453Val) c.1037G>T (p.Gly346Val) c.1337G>T (p.Gly446Val) c.1340G>T (p.Gly447Val) c.1019G>T (p.Gly340Val) c.1184G>T (p.Gly395Val) c.684G>T (n.684G>T) c.851G>T (p.Gly284Val) c.1310G>T (p.Gly437Val) c.1202G>T (p.Gly401Val) c.1355G>T (p.Gly452Val) c.1307G>T (p.Gly436Val) c.1190G>T (p.Gly397Val) c.1172G>T (p.Gly391Val)
3	g.69965026C>A	CA434433725	MITF	c.1293C>A (p.Gly431=) c.1290C>A (p.Gly430=) n.1515C>A c.1266C>A (p.Gly422=) c.104C>A (n.104C>A) c.1359C>A (p.Gly453=) c.1038C>A (p.Gly346=) c.1338C>A (p.Gly446=) c.1341C>A (p.Gly447=) c.1020C>A (p.Gly340=) c.1185C>A (p.Gly395=) c.685C>A (n.685C>A) c.852C>A (p.Gly284=) c.1311C>A (p.Gly437=) c.1203C>A (p.Gly401=) c.1356C>A (p.Gly452=) c.1308C>A (p.Gly436=) c.1191C>A (p.Gly397=) c.1173C>A (p.Gly391=)
3	g.69965026C>G	CA434433726	MITF	c.1293C>G (p.Gly431=) c.1290C>G (p.Gly430=) n.1515C>G c.1266C>G (p.Gly422=) c.104C>G (n.104C>G) c.1359C>G (p.Gly453=) c.1038C>G (p.Gly346=) c.1338C>G (p.Gly446=) c.1341C>G (p.Gly447=) c.1020C>G (p.Gly340=) c.1185C>G (p.Gly395=) c.685C>G (n.685C>G) c.852C>G (p.Gly284=) c.1311C>G (p.Gly437=) c.1203C>G (p.Gly401=) c.1356C>G (p.Gly452=) c.1308C>G (p.Gly436=) c.1191C>G (p.Gly397=) c.1173C>G (p.Gly391=)
3	g.69965026C>T	CA434433727	MITF	c.1293C>T (p.Gly431=) c.1290C>T (p.Gly430=) n.1515C>T c.1266C>T (p.Gly422=) c.104C>T (n.104C>T) c.1359C>T (p.Gly453=) c.1038C>T (p.Gly346=) c.1338C>T (p.Gly446=) c.1341C>T (p.Gly447=) c.1020C>T (p.Gly340=) c.1185C>T (p.Gly395=) c.685C>T (n.685C>T) c.852C>T (p.Gly284=) c.1311C>T (p.Gly437=) c.1203C>T (p.Gly401=) c.1356C>T (p.Gly452=) c.1308C>T (p.Gly436=) c.1191C>T (p.Gly397=) c.1173C>T (p.Gly391=)	dbSNP
3	g.69965027A=	CA1373414198	MITF	c.1294A= (p.Thr432=) c.1291A= (p.Thr431=) n.1516A= c.1267A= (p.Thr423=) c.105A= (n.105A=) c.1360A= (p.Thr454=) c.1039A= (p.Thr347=) c.1339A= (p.Thr447=) c.1342A= (p.Thr448=) c.1021A= (p.Thr341=) c.1186A= (p.Thr396=) c.686A= (n.686A=) c.853A= (p.Thr285=) c.1312A= (p.Thr438=) c.1204A= (p.Thr402=) c.1357A= (p.Thr453=) c.1309A= (p.Thr437=) c.1192A= (p.Thr398=) c.1174A= (p.Thr392=)
3	g.69965027A>C	CA353559682	MITF	c.1294A>C (p.Thr432Pro) c.1291A>C (p.Thr431Pro) n.1516A>C c.1267A>C (p.Thr423Pro) c.105A>C (n.105A>C) c.1360A>C (p.Thr454Pro) c.1039A>C (p.Thr347Pro) c.1339A>C (p.Thr447Pro) c.1342A>C (p.Thr448Pro) c.1021A>C (p.Thr341Pro) c.1186A>C (p.Thr396Pro) c.686A>C (n.686A>C) c.853A>C (p.Thr285Pro) c.1312A>C (p.Thr438Pro) c.1204A>C (p.Thr402Pro) c.1357A>C (p.Thr453Pro) c.1309A>C (p.Thr437Pro) c.1192A>C (p.Thr398Pro) c.1174A>C (p.Thr392Pro)
3	g.69965027A>G	CA77003524	MITF	c.1294A>G (p.Thr432Ala) c.1291A>G (p.Thr431Ala) n.1516A>G c.1267A>G (p.Thr423Ala) c.105A>G (n.105A>G) c.1360A>G (p.Thr454Ala) c.1039A>G (p.Thr347Ala) c.1339A>G (p.Thr447Ala) c.1342A>G (p.Thr448Ala) c.1021A>G (p.Thr341Ala) c.1186A>G (p.Thr396Ala) c.686A>G (n.686A>G) c.853A>G (p.Thr285Ala) c.1312A>G (p.Thr438Ala) c.1204A>G (p.Thr402Ala) c.1357A>G (p.Thr453Ala) c.1309A>G (p.Thr437Ala) c.1192A>G (p.Thr398Ala) c.1174A>G (p.Thr392Ala)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3	g.69965027A>T	CA353559683	MITF	c.1294A>T (p.Thr432Ser) c.1291A>T (p.Thr431Ser) n.1516A>T c.1267A>T (p.Thr423Ser) c.105A>T (n.105A>T) c.1360A>T (p.Thr454Ser) c.1039A>T (p.Thr347Ser) c.1339A>T (p.Thr447Ser) c.1342A>T (p.Thr448Ser) c.1021A>T (p.Thr341Ser) c.1186A>T (p.Thr396Ser) c.686A>T (n.686A>T) c.853A>T (p.Thr285Ser) c.1312A>T (p.Thr438Ser) c.1204A>T (p.Thr402Ser) c.1357A>T (p.Thr453Ser) c.1309A>T (p.Thr437Ser) c.1192A>T (p.Thr398Ser) c.1174A>T (p.Thr392Ser)
3	g.69965027dup	CA2666480943	MITF	c.1294dup (p.Thr432AsnfsTer13) c.1291dup (p.Thr431AsnfsTer13) n.1516dup c.1267dup (p.Thr423AsnfsTer13) c.105dup (n.105dup) c.1360dup (p.Thr454AsnfsTer13) c.1039dup (p.Thr347AsnfsTer13) c.1339dup (p.Thr447AsnfsTer13) c.1342dup (p.Thr448AsnfsTer13) c.1021dup (p.Thr341AsnfsTer13) c.1186dup (p.Thr396AsnfsTer13) c.686dup (n.686dup) c.853dup (p.Thr285AsnfsTer13) c.1312dup (p.Thr438AsnfsTer13) c.1204dup (p.Thr402AsnfsTer13) c.1357dup (p.Thr453AsnfsTer13) c.1309dup (p.Thr437AsnfsTer13) c.1192dup (p.Thr398AsnfsTer13) c.1174dup (p.Thr392AsnfsTer13)	gnomAD v4
3	g.69965028C>A	CA353559684	MITF	c.1295C>A (p.Thr432Asn) c.1292C>A (p.Thr431Asn) n.1517C>A c.1268C>A (p.Thr423Asn) c.106C>A (n.106C>A) c.1361C>A (p.Thr454Asn) c.1040C>A (p.Thr347Asn) c.1340C>A (p.Thr447Asn) c.1343C>A (p.Thr448Asn) c.1022C>A (p.Thr341Asn) c.1187C>A (p.Thr396Asn) c.687C>A (n.687C>A) c.854C>A (p.Thr285Asn) c.1313C>A (p.Thr438Asn) c.1205C>A (p.Thr402Asn) c.1358C>A (p.Thr453Asn) c.1310C>A (p.Thr437Asn) c.1193C>A (p.Thr398Asn) c.1175C>A (p.Thr392Asn)
3	g.69965028C>G	CA353559685	MITF	c.1295C>G (p.Thr432Ser) c.1292C>G (p.Thr431Ser) n.1517C>G c.1268C>G (p.Thr423Ser) c.106C>G (n.106C>G) c.1361C>G (p.Thr454Ser) c.1040C>G (p.Thr347Ser) c.1340C>G (p.Thr447Ser) c.1343C>G (p.Thr448Ser) c.1022C>G (p.Thr341Ser) c.1187C>G (p.Thr396Ser) c.687C>G (n.687C>G) c.854C>G (p.Thr285Ser) c.1313C>G (p.Thr438Ser) c.1205C>G (p.Thr402Ser) c.1358C>G (p.Thr453Ser) c.1310C>G (p.Thr437Ser) c.1193C>G (p.Thr398Ser) c.1175C>G (p.Thr392Ser)
3	g.69965028C>T	CA353559686	MITF	c.1295C>T (p.Thr432Ile) c.1292C>T (p.Thr431Ile) n.1517C>T c.1268C>T (p.Thr423Ile) c.106C>T (n.106C>T) c.1361C>T (p.Thr454Ile) c.1040C>T (p.Thr347Ile) c.1340C>T (p.Thr447Ile) c.1343C>T (p.Thr448Ile) c.1022C>T (p.Thr341Ile) c.1187C>T (p.Thr396Ile) c.687C>T (n.687C>T) c.854C>T (p.Thr285Ile) c.1313C>T (p.Thr438Ile) c.1205C>T (p.Thr402Ile) c.1358C>T (p.Thr453Ile) c.1310C>T (p.Thr437Ile) c.1193C>T (p.Thr398Ile) c.1175C>T (p.Thr392Ile)	ClinVar dbSNP
3	g.69965029C>A	CA434433729	MITF	c.1296C>A (p.Thr432=) c.1293C>A (p.Thr431=) n.1518C>A c.1269C>A (p.Thr423=) c.107C>A (n.107C>A) c.1362C>A (p.Thr454=) c.1041C>A (p.Thr347=) c.1341C>A (p.Thr447=) c.1344C>A (p.Thr448=) c.1023C>A (p.Thr341=) c.1188C>A (p.Thr396=) c.688C>A (n.688C>A) c.855C>A (p.Thr285=) c.1314C>A (p.Thr438=) c.1206C>A (p.Thr402=) c.1359C>A (p.Thr453=) c.1311C>A (p.Thr437=) c.1194C>A (p.Thr398=) c.1176C>A (p.Thr392=)	dbSNP
3	g.69965029C=	CA1373414202	MITF	c.1296C= (p.Thr432=) c.1293C= (p.Thr431=) n.1518C= c.1269C= (p.Thr423=) c.107C= (n.107C=) c.1362C= (p.Thr454=) c.1041C= (p.Thr347=) c.1341C= (p.Thr447=) c.1344C= (p.Thr448=) c.1023C= (p.Thr341=) c.1188C= (p.Thr396=) c.688C= (n.688C=) c.855C= (p.Thr285=) c.1314C= (p.Thr438=) c.1206C= (p.Thr402=) c.1359C= (p.Thr453=) c.1311C= (p.Thr437=) c.1194C= (p.Thr398=) c.1176C= (p.Thr392=)
3	g.69965029C>G	CA77003525	MITF	c.1296C>G (p.Thr432=) c.1293C>G (p.Thr431=) n.1518C>G c.1269C>G (p.Thr423=) c.107C>G (n.107C>G) c.1362C>G (p.Thr454=) c.1041C>G (p.Thr347=) c.1341C>G (p.Thr447=) c.1344C>G (p.Thr448=) c.1023C>G (p.Thr341=) c.1188C>G (p.Thr396=) c.688C>G (n.688C>G) c.855C>G (p.Thr285=) c.1314C>G (p.Thr438=) c.1206C>G (p.Thr402=) c.1359C>G (p.Thr453=) c.1311C>G (p.Thr437=) c.1194C>G (p.Thr398=) c.1176C>G (p.Thr392=)	dbSNP gnomAD v4
3	g.69965029C>T	CA434433730	MITF	c.1296C>T (p.Thr432=) c.1293C>T (p.Thr431=) n.1518C>T c.1269C>T (p.Thr423=) c.107C>T (n.107C>T) c.1362C>T (p.Thr454=) c.1041C>T (p.Thr347=) c.1341C>T (p.Thr447=) c.1344C>T (p.Thr448=) c.1023C>T (p.Thr341=) c.1188C>T (p.Thr396=) c.688C>T (n.688C>T) c.855C>T (p.Thr285=) c.1314C>T (p.Thr438=) c.1206C>T (p.Thr402=) c.1359C>T (p.Thr453=) c.1311C>T (p.Thr437=) c.1194C>T (p.Thr398=) c.1176C>T (p.Thr392=)
3	g.69965030A=	CA1373414206	MITF	c.1297A= (p.Ile433=) c.1294A= (p.Ile432=) n.1519A= c.1270A= (p.Ile424=) c.108A= (n.108A=) c.1363A= (p.Ile455=) c.1042A= (p.Ile348=) c.1342A= (p.Ile448=) c.1345A= (p.Ile449=) c.1024A= (p.Ile342=) c.1189A= (p.Ile397=) c.689A= (n.689A=) c.856A= (p.Ile286=) c.1315A= (p.Ile439=) c.1207A= (p.Ile403=) c.1360A= (p.Ile454=) c.1312A= (p.Ile438=) c.1195A= (p.Ile399=) c.1177A= (p.Ile393=)
3	g.69965030A>C	CA353559689	MITF	c.1297A>C (p.Ile433Leu) c.1294A>C (p.Ile432Leu) n.1519A>C c.1270A>C (p.Ile424Leu) c.108A>C (n.108A>C) c.1363A>C (p.Ile455Leu) c.1042A>C (p.Ile348Leu) c.1342A>C (p.Ile448Leu) c.1345A>C (p.Ile449Leu) c.1024A>C (p.Ile342Leu) c.1189A>C (p.Ile397Leu) c.689A>C (n.689A>C) c.856A>C (p.Ile286Leu) c.1315A>C (p.Ile439Leu) c.1207A>C (p.Ile403Leu) c.1360A>C (p.Ile454Leu) c.1312A>C (p.Ile438Leu) c.1195A>C (p.Ile399Leu) c.1177A>C (p.Ile393Leu)
3	g.69965030A>G	CA353559687	MITF	c.1297A>G (p.Ile433Val) c.1294A>G (p.Ile432Val) n.1519A>G c.1270A>G (p.Ile424Val) c.108A>G (n.108A>G) c.1363A>G (p.Ile455Val) c.1042A>G (p.Ile348Val) c.1342A>G (p.Ile448Val) c.1345A>G (p.Ile449Val) c.1024A>G (p.Ile342Val) c.1189A>G (p.Ile397Val) c.689A>G (n.689A>G) c.856A>G (p.Ile286Val) c.1315A>G (p.Ile439Val) c.1207A>G (p.Ile403Val) c.1360A>G (p.Ile454Val) c.1312A>G (p.Ile438Val) c.1195A>G (p.Ile399Val) c.1177A>G (p.Ile393Val)	gnomAD v4
3	g.69965030A>T	CA353559688	MITF	c.1297A>T (p.Ile433Phe) c.1294A>T (p.Ile432Phe) n.1519A>T c.1270A>T (p.Ile424Phe) c.108A>T (n.108A>T) c.1363A>T (p.Ile455Phe) c.1042A>T (p.Ile348Phe) c.1342A>T (p.Ile448Phe) c.1345A>T (p.Ile449Phe) c.1024A>T (p.Ile342Phe) c.1189A>T (p.Ile397Phe) c.689A>T (n.689A>T) c.856A>T (p.Ile286Phe) c.1315A>T (p.Ile439Phe) c.1207A>T (p.Ile403Phe) c.1360A>T (p.Ile454Phe) c.1312A>T (p.Ile438Phe) c.1195A>T (p.Ile399Phe) c.1177A>T (p.Ile393Phe)	dbSNP gnomAD v2 gnomAD v4
3	g.69965031T>A	CA353559690	MITF	c.1298T>A (p.Ile433Asn) c.1295T>A (p.Ile432Asn) n.1520T>A c.1271T>A (p.Ile424Asn) c.109T>A (n.109T>A) c.1364T>A (p.Ile455Asn) c.1043T>A (p.Ile348Asn) c.1343T>A (p.Ile448Asn) c.1346T>A (p.Ile449Asn) c.1025T>A (p.Ile342Asn) c.1190T>A (p.Ile397Asn) c.690T>A (n.690T>A) c.857T>A (p.Ile286Asn) c.1316T>A (p.Ile439Asn) c.1208T>A (p.Ile403Asn) c.1361T>A (p.Ile454Asn) c.1313T>A (p.Ile438Asn) c.1196T>A (p.Ile399Asn) c.1178T>A (p.Ile393Asn)	gnomAD v4
3	g.69965031T>C	CA353559691	MITF	c.1298T>C (p.Ile433Thr) c.1295T>C (p.Ile432Thr) n.1520T>C c.1271T>C (p.Ile424Thr) c.109T>C (n.109T>C) c.1364T>C (p.Ile455Thr) c.1043T>C (p.Ile348Thr) c.1343T>C (p.Ile448Thr) c.1346T>C (p.Ile449Thr) c.1025T>C (p.Ile342Thr) c.1190T>C (p.Ile397Thr) c.690T>C (n.690T>C) c.857T>C (p.Ile286Thr) c.1316T>C (p.Ile439Thr) c.1208T>C (p.Ile403Thr) c.1361T>C (p.Ile454Thr) c.1313T>C (p.Ile438Thr) c.1196T>C (p.Ile399Thr) c.1178T>C (p.Ile393Thr)
3	g.69965031T>G	CA353559692	MITF	c.1298T>G (p.Ile433Ser) c.1295T>G (p.Ile432Ser) n.1520T>G c.1271T>G (p.Ile424Ser) c.109T>G (n.109T>G) c.1364T>G (p.Ile455Ser) c.1043T>G (p.Ile348Ser) c.1343T>G (p.Ile448Ser) c.1346T>G (p.Ile449Ser) c.1025T>G (p.Ile342Ser) c.1190T>G (p.Ile397Ser) c.690T>G (n.690T>G) c.857T>G (p.Ile286Ser) c.1316T>G (p.Ile439Ser) c.1208T>G (p.Ile403Ser) c.1361T>G (p.Ile454Ser) c.1313T>G (p.Ile438Ser) c.1196T>G (p.Ile399Ser) c.1178T>G (p.Ile393Ser)
3	g.69965032C>A	CA434433731	MITF	c.1299C>A (p.Ile433=) c.1296C>A (p.Ile432=) n.1521C>A c.1272C>A (p.Ile424=) c.110C>A (n.110C>A) c.1365C>A (p.Ile455=) c.1044C>A (p.Ile348=) c.1344C>A (p.Ile448=) c.1347C>A (p.Ile449=) c.1026C>A (p.Ile342=) c.1191C>A (p.Ile397=) c.691C>A (n.691C>A) c.858C>A (p.Ile286=) c.1317C>A (p.Ile439=) c.1209C>A (p.Ile403=) c.1362C>A (p.Ile454=) c.1314C>A (p.Ile438=) c.1197C>A (p.Ile399=) c.1179C>A (p.Ile393=)
3	g.69965032C=	CA1373414208	MITF	c.1299C= (p.Ile433=) c.1296C= (p.Ile432=) n.1521C= c.1272C= (p.Ile424=) c.110C= (n.110C=) c.1365C= (p.Ile455=) c.1044C= (p.Ile348=) c.1344C= (p.Ile448=) c.1347C= (p.Ile449=) c.1026C= (p.Ile342=) c.1191C= (p.Ile397=) c.691C= (n.691C=) c.858C= (p.Ile286=) c.1317C= (p.Ile439=) c.1209C= (p.Ile403=) c.1362C= (p.Ile454=) c.1314C= (p.Ile438=) c.1197C= (p.Ile399=) c.1179C= (p.Ile393=)
3	g.69965032C>G	CA353559693	MITF	c.1299C>G (p.Ile433Met) c.1296C>G (p.Ile432Met) n.1521C>G c.1272C>G (p.Ile424Met) c.110C>G (n.110C>G) c.1365C>G (p.Ile455Met) c.1044C>G (p.Ile348Met) c.1344C>G (p.Ile448Met) c.1347C>G (p.Ile449Met) c.1026C>G (p.Ile342Met) c.1191C>G (p.Ile397Met) c.691C>G (n.691C>G) c.858C>G (p.Ile286Met) c.1317C>G (p.Ile439Met) c.1209C>G (p.Ile403Met) c.1362C>G (p.Ile454Met) c.1314C>G (p.Ile438Met) c.1197C>G (p.Ile399Met) c.1179C>G (p.Ile393Met)	dbSNP
3	g.69965032C>T	CA434433732	MITF	c.1299C>T (p.Ile433=) c.1296C>T (p.Ile432=) n.1521C>T c.1272C>T (p.Ile424=) c.110C>T (n.110C>T) c.1365C>T (p.Ile455=) c.1044C>T (p.Ile348=) c.1344C>T (p.Ile448=) c.1347C>T (p.Ile449=) c.1026C>T (p.Ile342=) c.1191C>T (p.Ile397=) c.691C>T (n.691C>T) c.858C>T (p.Ile286=) c.1317C>T (p.Ile439=) c.1209C>T (p.Ile403=) c.1362C>T (p.Ile454=) c.1314C>T (p.Ile438=) c.1197C>T (p.Ile399=) c.1179C>T (p.Ile393=)
3	g.69965033A=	CA1373414217	MITF	c.1300A= (p.Thr434=) c.1297A= (p.Thr433=) n.1522A= c.1273A= (p.Thr425=) c.111A= (n.111A=) c.1366A= (p.Thr456=) c.1045A= (p.Thr349=) c.1345A= (p.Thr449=) c.1348A= (p.Thr450=) c.1027A= (p.Thr343=) c.1192A= (p.Thr398=) c.692A= (n.692A=) c.859A= (p.Thr287=) c.1318A= (p.Thr440=) c.1210A= (p.Thr404=) c.1363A= (p.Thr455=) c.1315A= (p.Thr439=) c.1198A= (p.Thr400=) c.1180A= (p.Thr394=)
3	g.69965033A>C	CA353559694	MITF	c.1300A>C (p.Thr434Pro) c.1297A>C (p.Thr433Pro) n.1522A>C c.1273A>C (p.Thr425Pro) c.111A>C (n.111A>C) c.1366A>C (p.Thr456Pro) c.1045A>C (p.Thr349Pro) c.1345A>C (p.Thr449Pro) c.1348A>C (p.Thr450Pro) c.1027A>C (p.Thr343Pro) c.1192A>C (p.Thr398Pro) c.692A>C (n.692A>C) c.859A>C (p.Thr287Pro) c.1318A>C (p.Thr440Pro) c.1210A>C (p.Thr404Pro) c.1363A>C (p.Thr455Pro) c.1315A>C (p.Thr439Pro) c.1198A>C (p.Thr400Pro) c.1180A>C (p.Thr394Pro)	dbSNP
3	g.69965033A>G	CA353559695	MITF	c.1300A>G (p.Thr434Ala) c.1297A>G (p.Thr433Ala) n.1522A>G c.1273A>G (p.Thr425Ala) c.111A>G (n.111A>G) c.1366A>G (p.Thr456Ala) c.1045A>G (p.Thr349Ala) c.1345A>G (p.Thr449Ala) c.1348A>G (p.Thr450Ala) c.1027A>G (p.Thr343Ala) c.1192A>G (p.Thr398Ala) c.692A>G (n.692A>G) c.859A>G (p.Thr287Ala) c.1318A>G (p.Thr440Ala) c.1210A>G (p.Thr404Ala) c.1363A>G (p.Thr455Ala) c.1315A>G (p.Thr439Ala) c.1198A>G (p.Thr400Ala) c.1180A>G (p.Thr394Ala)
3	g.69965033A>T	CA353559696	MITF	c.1300A>T (p.Thr434Ser) c.1297A>T (p.Thr433Ser) n.1522A>T c.1273A>T (p.Thr425Ser) c.111A>T (n.111A>T) c.1366A>T (p.Thr456Ser) c.1045A>T (p.Thr349Ser) c.1345A>T (p.Thr449Ser) c.1348A>T (p.Thr450Ser) c.1027A>T (p.Thr343Ser) c.1192A>T (p.Thr398Ser) c.692A>T (n.692A>T) c.859A>T (p.Thr287Ser) c.1318A>T (p.Thr440Ser) c.1210A>T (p.Thr404Ser) c.1363A>T (p.Thr455Ser) c.1315A>T (p.Thr439Ser) c.1198A>T (p.Thr400Ser) c.1180A>T (p.Thr394Ser)
3	g.69965034C>A	CA353559697	MITF	c.1301C>A (p.Thr434Asn) c.1298C>A (p.Thr433Asn) n.1523C>A c.1274C>A (p.Thr425Asn) c.112C>A (n.112C>A) c.1367C>A (p.Thr456Asn) c.1046C>A (p.Thr349Asn) c.1346C>A (p.Thr449Asn) c.1349C>A (p.Thr450Asn) c.1028C>A (p.Thr343Asn) c.1193C>A (p.Thr398Asn) c.693C>A (n.693C>A) c.860C>A (p.Thr287Asn) c.1319C>A (p.Thr440Asn) c.1211C>A (p.Thr404Asn) c.1364C>A (p.Thr455Asn) c.1316C>A (p.Thr439Asn) c.1199C>A (p.Thr400Asn) c.1181C>A (p.Thr394Asn)
3	g.69965034C>G	CA353559698	MITF	c.1301C>G (p.Thr434Ser) c.1298C>G (p.Thr433Ser) n.1523C>G c.1274C>G (p.Thr425Ser) c.112C>G (n.112C>G) c.1367C>G (p.Thr456Ser) c.1046C>G (p.Thr349Ser) c.1346C>G (p.Thr449Ser) c.1349C>G (p.Thr450Ser) c.1028C>G (p.Thr343Ser) c.1193C>G (p.Thr398Ser) c.693C>G (n.693C>G) c.860C>G (p.Thr287Ser) c.1319C>G (p.Thr440Ser) c.1211C>G (p.Thr404Ser) c.1364C>G (p.Thr455Ser) c.1316C>G (p.Thr439Ser) c.1199C>G (p.Thr400Ser) c.1181C>G (p.Thr394Ser)
3	g.69965034C>T	CA353559699	MITF	c.1301C>T (p.Thr434Ile) c.1298C>T (p.Thr433Ile) n.1523C>T c.1274C>T (p.Thr425Ile) c.112C>T (n.112C>T) c.1367C>T (p.Thr456Ile) c.1046C>T (p.Thr349Ile) c.1346C>T (p.Thr449Ile) c.1349C>T (p.Thr450Ile) c.1028C>T (p.Thr343Ile) c.1193C>T (p.Thr398Ile) c.693C>T (n.693C>T) c.860C>T (p.Thr287Ile) c.1319C>T (p.Thr440Ile) c.1211C>T (p.Thr404Ile) c.1364C>T (p.Thr455Ile) c.1316C>T (p.Thr439Ile) c.1199C>T (p.Thr400Ile) c.1181C>T (p.Thr394Ile)
3	g.69965035C>A	CA434433735	MITF	c.1302C>A (p.Thr434=) c.1299C>A (p.Thr433=) n.1524C>A c.1275C>A (p.Thr425=) c.113C>A (n.113C>A) c.1368C>A (p.Thr456=) c.1047C>A (p.Thr349=) c.1347C>A (p.Thr449=) c.1350C>A (p.Thr450=) c.1029C>A (p.Thr343=) c.1194C>A (p.Thr398=) c.694C>A (n.694C>A) c.861C>A (p.Thr287=) c.1320C>A (p.Thr440=) c.1212C>A (p.Thr404=) c.1365C>A (p.Thr455=) c.1317C>A (p.Thr439=) c.1200C>A (p.Thr400=) c.1182C>A (p.Thr394=)
3	g.69965035C=	CA1373414219	MITF	c.1302C= (p.Thr434=) c.1299C= (p.Thr433=) n.1524C= c.1275C= (p.Thr425=) c.113C= (n.113C=) c.1368C= (p.Thr456=) c.1047C= (p.Thr349=) c.1347C= (p.Thr449=) c.1350C= (p.Thr450=) c.1029C= (p.Thr343=) c.1194C= (p.Thr398=) c.694C= (n.694C=) c.861C= (p.Thr287=) c.1320C= (p.Thr440=) c.1212C= (p.Thr404=) c.1365C= (p.Thr455=) c.1317C= (p.Thr439=) c.1200C= (p.Thr400=) c.1182C= (p.Thr394=)
3	g.69965035C>G	CA434433736	MITF	c.1302C>G (p.Thr434=) c.1299C>G (p.Thr433=) n.1524C>G c.1275C>G (p.Thr425=) c.113C>G (n.113C>G) c.1368C>G (p.Thr456=) c.1047C>G (p.Thr349=) c.1347C>G (p.Thr449=) c.1350C>G (p.Thr450=) c.1029C>G (p.Thr343=) c.1194C>G (p.Thr398=) c.694C>G (n.694C>G) c.861C>G (p.Thr287=) c.1320C>G (p.Thr440=) c.1212C>G (p.Thr404=) c.1365C>G (p.Thr455=) c.1317C>G (p.Thr439=) c.1200C>G (p.Thr400=) c.1182C>G (p.Thr394=)
3	g.69965035C>T	CA434433737	MITF	c.1302C>T (p.Thr434=) c.1299C>T (p.Thr433=) n.1524C>T c.1275C>T (p.Thr425=) c.113C>T (n.113C>T) c.1368C>T (p.Thr456=) c.1047C>T (p.Thr349=) c.1347C>T (p.Thr449=) c.1350C>T (p.Thr450=) c.1029C>T (p.Thr343=) c.1194C>T (p.Thr398=) c.694C>T (n.694C>T) c.861C>T (p.Thr287=) c.1320C>T (p.Thr440=) c.1212C>T (p.Thr404=) c.1365C>T (p.Thr455=) c.1317C>T (p.Thr439=) c.1200C>T (p.Thr400=) c.1182C>T (p.Thr394=)	dbSNP gnomAD v3 gnomAD v4
3	g.69965036T>A	CA353559702	MITF	c.1303T>A (p.Phe435Ile) c.1300T>A (p.Phe434Ile) n.1525T>A c.1276T>A (p.Phe426Ile) c.114T>A (n.114T>A) c.1369T>A (p.Phe457Ile) c.1048T>A (p.Phe350Ile) c.1348T>A (p.Phe450Ile) c.1351T>A (p.Phe451Ile) c.1030T>A (p.Phe344Ile) c.1195T>A (p.Phe399Ile) c.695T>A (n.695T>A) c.862T>A (p.Phe288Ile) c.1321T>A (p.Phe441Ile) c.1213T>A (p.Phe405Ile) c.1366T>A (p.Phe456Ile) c.1318T>A (p.Phe440Ile) c.1201T>A (p.Phe401Ile) c.1183T>A (p.Phe395Ile)	dbSNP
3	g.69965036T>C	CA353559701	MITF	c.1303T>C (p.Phe435Leu) c.1300T>C (p.Phe434Leu) n.1525T>C c.1276T>C (p.Phe426Leu) c.114T>C (n.114T>C) c.1369T>C (p.Phe457Leu) c.1048T>C (p.Phe350Leu) c.1348T>C (p.Phe450Leu) c.1351T>C (p.Phe451Leu) c.1030T>C (p.Phe344Leu) c.1195T>C (p.Phe399Leu) c.695T>C (n.695T>C) c.862T>C (p.Phe288Leu) c.1321T>C (p.Phe441Leu) c.1213T>C (p.Phe405Leu) c.1366T>C (p.Phe456Leu) c.1318T>C (p.Phe440Leu) c.1201T>C (p.Phe401Leu) c.1183T>C (p.Phe395Leu)
3	g.69965036T>G	CA353559700	MITF	c.1303T>G (p.Phe435Val) c.1300T>G (p.Phe434Val) n.1525T>G c.1276T>G (p.Phe426Val) c.114T>G (n.114T>G) c.1369T>G (p.Phe457Val) c.1048T>G (p.Phe350Val) c.1348T>G (p.Phe450Val) c.1351T>G (p.Phe451Val) c.1030T>G (p.Phe344Val) c.1195T>G (p.Phe399Val) c.695T>G (n.695T>G) c.862T>G (p.Phe288Val) c.1321T>G (p.Phe441Val) c.1213T>G (p.Phe405Val) c.1366T>G (p.Phe456Val) c.1318T>G (p.Phe440Val) c.1201T>G (p.Phe401Val) c.1183T>G (p.Phe395Val)
3	g.69965037T>A	CA353559703	MITF	c.1304T>A (p.Phe435Tyr) c.1301T>A (p.Phe434Tyr) n.1526T>A c.1277T>A (p.Phe426Tyr) c.115T>A (n.115T>A) c.1370T>A (p.Phe457Tyr) c.1049T>A (p.Phe350Tyr) c.1349T>A (p.Phe450Tyr) c.1352T>A (p.Phe451Tyr) c.1031T>A (p.Phe344Tyr) c.1196T>A (p.Phe399Tyr) c.696T>A (n.696T>A) c.863T>A (p.Phe288Tyr) c.1322T>A (p.Phe441Tyr) c.1214T>A (p.Phe405Tyr) c.1367T>A (p.Phe456Tyr) c.1319T>A (p.Phe440Tyr) c.1202T>A (p.Phe401Tyr) c.1184T>A (p.Phe395Tyr)
3	g.69965037T>C	CA2490649	MITF	c.1304T>C (p.Phe435Ser) c.1301T>C (p.Phe434Ser) n.1526T>C c.1277T>C (p.Phe426Ser) c.115T>C (n.115T>C) c.1370T>C (p.Phe457Ser) c.1049T>C (p.Phe350Ser) c.1349T>C (p.Phe450Ser) c.1352T>C (p.Phe451Ser) c.1031T>C (p.Phe344Ser) c.1196T>C (p.Phe399Ser) c.696T>C (n.696T>C) c.863T>C (p.Phe288Ser) c.1322T>C (p.Phe441Ser) c.1214T>C (p.Phe405Ser) c.1367T>C (p.Phe456Ser) c.1319T>C (p.Phe440Ser) c.1202T>C (p.Phe401Ser) c.1184T>C (p.Phe395Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3	g.69965037T>G	CA353559704	MITF	c.1304T>G (p.Phe435Cys) c.1301T>G (p.Phe434Cys) n.1526T>G c.1277T>G (p.Phe426Cys) c.115T>G (n.115T>G) c.1370T>G (p.Phe457Cys) c.1049T>G (p.Phe350Cys) c.1349T>G (p.Phe450Cys) c.1352T>G (p.Phe451Cys) c.1031T>G (p.Phe344Cys) c.1196T>G (p.Phe399Cys) c.696T>G (n.696T>G) c.863T>G (p.Phe288Cys) c.1322T>G (p.Phe441Cys) c.1214T>G (p.Phe405Cys) c.1367T>G (p.Phe456Cys) c.1319T>G (p.Phe440Cys) c.1202T>G (p.Phe401Cys) c.1184T>G (p.Phe395Cys)
3	g.69965037T=	CA1373414223	MITF	c.1304T= (p.Phe435=) c.1301T= (p.Phe434=) n.1526T= c.1277T= (p.Phe426=) c.115T= (n.115T=) c.1370T= (p.Phe457=) c.1049T= (p.Phe350=) c.1349T= (p.Phe450=) c.1352T= (p.Phe451=) c.1031T= (p.Phe344=) c.1196T= (p.Phe399=) c.696T= (n.696T=) c.863T= (p.Phe288=) c.1322T= (p.Phe441=) c.1214T= (p.Phe405=) c.1367T= (p.Phe456=) c.1319T= (p.Phe440=) c.1202T= (p.Phe401=) c.1184T= (p.Phe395=)
3	g.69965038C>A	CA353559705	MITF	c.1305C>A (p.Phe435Leu) c.1302C>A (p.Phe434Leu) n.1527C>A c.1278C>A (p.Phe426Leu) c.116C>A (n.116C>A) c.1371C>A (p.Phe457Leu) c.1050C>A (p.Phe350Leu) c.1350C>A (p.Phe450Leu) c.1353C>A (p.Phe451Leu) c.1032C>A (p.Phe344Leu) c.1197C>A (p.Phe399Leu) c.697C>A (n.697C>A) c.864C>A (p.Phe288Leu) c.1323C>A (p.Phe441Leu) c.1215C>A (p.Phe405Leu) c.1368C>A (p.Phe456Leu) c.1320C>A (p.Phe440Leu) c.1203C>A (p.Phe401Leu) c.1185C>A (p.Phe395Leu)
3	g.69965038C>G	CA353559706	MITF	c.1305C>G (p.Phe435Leu) c.1302C>G (p.Phe434Leu) n.1527C>G c.1278C>G (p.Phe426Leu) c.116C>G (n.116C>G) c.1371C>G (p.Phe457Leu) c.1050C>G (p.Phe350Leu) c.1350C>G (p.Phe450Leu) c.1353C>G (p.Phe451Leu) c.1032C>G (p.Phe344Leu) c.1197C>G (p.Phe399Leu) c.697C>G (n.697C>G) c.864C>G (p.Phe288Leu) c.1323C>G (p.Phe441Leu) c.1215C>G (p.Phe405Leu) c.1368C>G (p.Phe456Leu) c.1320C>G (p.Phe440Leu) c.1203C>G (p.Phe401Leu) c.1185C>G (p.Phe395Leu)
3	g.69965038C>T	CA434433739	MITF	c.1305C>T (p.Phe435=) c.1302C>T (p.Phe434=) n.1527C>T c.1278C>T (p.Phe426=) c.116C>T (n.116C>T) c.1371C>T (p.Phe457=) c.1050C>T (p.Phe350=) c.1350C>T (p.Phe450=) c.1353C>T (p.Phe451=) c.1032C>T (p.Phe344=) c.1197C>T (p.Phe399=) c.697C>T (n.697C>T) c.864C>T (p.Phe288=) c.1323C>T (p.Phe441=) c.1215C>T (p.Phe405=) c.1368C>T (p.Phe456=) c.1320C>T (p.Phe440=) c.1203C>T (p.Phe401=) c.1185C>T (p.Phe395=)
3	g.69965039A>C	CA353559707	MITF	c.1306A>C (p.Asn436His) c.1303A>C (p.Asn435His) n.1528A>C c.1279A>C (p.Asn427His) c.117A>C (n.117A>C) c.1372A>C (p.Asn458His) c.1051A>C (p.Asn351His) c.1351A>C (p.Asn451His) c.1354A>C (p.Asn452His) c.1033A>C (p.Asn345His) c.1198A>C (p.Asn400His) c.698A>C (n.698A>C) c.865A>C (p.Asn289His) c.1324A>C (p.Asn442His) c.1216A>C (p.Asn406His) c.1369A>C (p.Asn457His) c.1321A>C (p.Asn441His) c.1204A>C (p.Asn402His) c.1186A>C (p.Asn396His)
3	g.69965039A>G	CA353559708	MITF	c.1306A>G (p.Asn436Asp) c.1303A>G (p.Asn435Asp) n.1528A>G c.1279A>G (p.Asn427Asp) c.117A>G (n.117A>G) c.1372A>G (p.Asn458Asp) c.1051A>G (p.Asn351Asp) c.1351A>G (p.Asn451Asp) c.1354A>G (p.Asn452Asp) c.1033A>G (p.Asn345Asp) c.1198A>G (p.Asn400Asp) c.698A>G (n.698A>G) c.865A>G (p.Asn289Asp) c.1324A>G (p.Asn442Asp) c.1216A>G (p.Asn406Asp) c.1369A>G (p.Asn457Asp) c.1321A>G (p.Asn441Asp) c.1204A>G (p.Asn402Asp) c.1186A>G (p.Asn396Asp)	gnomAD v4
3	g.69965039A>T	CA353559709	MITF	c.1306A>T (p.Asn436Tyr) c.1303A>T (p.Asn435Tyr) n.1528A>T c.1279A>T (p.Asn427Tyr) c.117A>T (n.117A>T) c.1372A>T (p.Asn458Tyr) c.1051A>T (p.Asn351Tyr) c.1351A>T (p.Asn451Tyr) c.1354A>T (p.Asn452Tyr) c.1033A>T (p.Asn345Tyr) c.1198A>T (p.Asn400Tyr) c.698A>T (n.698A>T) c.865A>T (p.Asn289Tyr) c.1324A>T (p.Asn442Tyr) c.1216A>T (p.Asn406Tyr) c.1369A>T (p.Asn457Tyr) c.1321A>T (p.Asn441Tyr) c.1204A>T (p.Asn402Tyr) c.1186A>T (p.Asn396Tyr)
3	g.69965040A=	CA1373414226	MITF	c.1307A= (p.Asn436=) c.1304A= (p.Asn435=) n.1529A= c.1280A= (p.Asn427=) c.118A= (n.118A=) c.1373A= (p.Asn458=) c.1052A= (p.Asn351=) c.1352A= (p.Asn451=) c.1355A= (p.Asn452=) c.1034A= (p.Asn345=) c.1199A= (p.Asn400=) c.699A= (n.699A=) c.866A= (p.Asn289=) c.1325A= (p.Asn442=) c.1217A= (p.Asn406=) c.1370A= (p.Asn457=) c.1322A= (p.Asn441=) c.1205A= (p.Asn402=) c.1187A= (p.Asn396=)
3	g.69965040A>C	CA353559710	MITF	c.1307A>C (p.Asn436Thr) c.1304A>C (p.Asn435Thr) n.1529A>C c.1280A>C (p.Asn427Thr) c.118A>C (n.118A>C) c.1373A>C (p.Asn458Thr) c.1052A>C (p.Asn351Thr) c.1352A>C (p.Asn451Thr) c.1355A>C (p.Asn452Thr) c.1034A>C (p.Asn345Thr) c.1199A>C (p.Asn400Thr) c.699A>C (n.699A>C) c.866A>C (p.Asn289Thr) c.1325A>C (p.Asn442Thr) c.1217A>C (p.Asn406Thr) c.1370A>C (p.Asn457Thr) c.1322A>C (p.Asn441Thr) c.1205A>C (p.Asn402Thr) c.1187A>C (p.Asn396Thr)
3	g.69965040A>G	CA353559711	MITF	c.1307A>G (p.Asn436Ser) c.1304A>G (p.Asn435Ser) n.1529A>G c.1280A>G (p.Asn427Ser) c.118A>G (n.118A>G) c.1373A>G (p.Asn458Ser) c.1052A>G (p.Asn351Ser) c.1352A>G (p.Asn451Ser) c.1355A>G (p.Asn452Ser) c.1034A>G (p.Asn345Ser) c.1199A>G (p.Asn400Ser) c.699A>G (n.699A>G) c.866A>G (p.Asn289Ser) c.1325A>G (p.Asn442Ser) c.1217A>G (p.Asn406Ser) c.1370A>G (p.Asn457Ser) c.1322A>G (p.Asn441Ser) c.1205A>G (p.Asn402Ser) c.1187A>G (p.Asn396Ser)	dbSNP gnomAD v3 gnomAD v4
3	g.69965040A>T	CA353559712	MITF	c.1307A>T (p.Asn436Ile) c.1304A>T (p.Asn435Ile) n.1529A>T c.1280A>T (p.Asn427Ile) c.118A>T (n.118A>T) c.1373A>T (p.Asn458Ile) c.1052A>T (p.Asn351Ile) c.1352A>T (p.Asn451Ile) c.1355A>T (p.Asn452Ile) c.1034A>T (p.Asn345Ile) c.1199A>T (p.Asn400Ile) c.699A>T (n.699A>T) c.866A>T (p.Asn289Ile) c.1325A>T (p.Asn442Ile) c.1217A>T (p.Asn406Ile) c.1370A>T (p.Asn457Ile) c.1322A>T (p.Asn441Ile) c.1205A>T (p.Asn402Ile) c.1187A>T (p.Asn396Ile)
3	g.69965041C>A	CA353559713	MITF	c.1308C>A (p.Asn436Lys) c.1305C>A (p.Asn435Lys) n.1530C>A c.1281C>A (p.Asn427Lys) c.119C>A (n.119C>A) c.1374C>A (p.Asn458Lys) c.1053C>A (p.Asn351Lys) c.1353C>A (p.Asn451Lys) c.1356C>A (p.Asn452Lys) c.1035C>A (p.Asn345Lys) c.1200C>A (p.Asn400Lys) c.700C>A (n.700C>A) c.867C>A (p.Asn289Lys) c.1326C>A (p.Asn442Lys) c.1218C>A (p.Asn406Lys) c.1371C>A (p.Asn457Lys) c.1323C>A (p.Asn441Lys) c.1206C>A (p.Asn402Lys) c.1188C>A (p.Asn396Lys)	dbSNP gnomAD v4
3	g.69965041C>G	CA353559714	MITF	c.1308C>G (p.Asn436Lys) c.1305C>G (p.Asn435Lys) n.1530C>G c.1281C>G (p.Asn427Lys) c.119C>G (n.119C>G) c.1374C>G (p.Asn458Lys) c.1053C>G (p.Asn351Lys) c.1353C>G (p.Asn451Lys) c.1356C>G (p.Asn452Lys) c.1035C>G (p.Asn345Lys) c.1200C>G (p.Asn400Lys) c.700C>G (n.700C>G) c.867C>G (p.Asn289Lys) c.1326C>G (p.Asn442Lys) c.1218C>G (p.Asn406Lys) c.1371C>G (p.Asn457Lys) c.1323C>G (p.Asn441Lys) c.1206C>G (p.Asn402Lys) c.1188C>G (p.Asn396Lys)
3	g.69965041C>T	CA434433740	MITF	c.1308C>T (p.Asn436=) c.1305C>T (p.Asn435=) n.1530C>T c.1281C>T (p.Asn427=) c.119C>T (n.119C>T) c.1374C>T (p.Asn458=) c.1053C>T (p.Asn351=) c.1353C>T (p.Asn451=) c.1356C>T (p.Asn452=) c.1035C>T (p.Asn345=) c.1200C>T (p.Asn400=) c.700C>T (n.700C>T) c.867C>T (p.Asn289=) c.1326C>T (p.Asn442=) c.1218C>T (p.Asn406=) c.1371C>T (p.Asn457=) c.1323C>T (p.Asn441=) c.1206C>T (p.Asn402=) c.1188C>T (p.Asn396=)	gnomAD v4
3	g.69965042A=	CA1373414231	MITF	c.1309A= (p.Asn437=) c.1306A= (p.Asn436=) n.1531A= c.1282A= (p.Asn428=) c.120A= (n.120A=) c.1375A= (p.Asn459=) c.1054A= (p.Asn352=) c.1354A= (p.Asn452=) c.1357A= (p.Asn453=) c.1036A= (p.Asn346=) c.1201A= (p.Asn401=) c.701A= (n.701A=) c.868A= (p.Asn290=) c.1327A= (p.Asn443=) c.1219A= (p.Asn407=) c.1372A= (p.Asn458=) c.1324A= (p.Asn442=) c.1207A= (p.Asn403=) c.1189A= (p.Asn397=)
3	g.69965042A>C	CA353559717	MITF	c.1309A>C (p.Asn437His) c.1306A>C (p.Asn436His) n.1531A>C c.1282A>C (p.Asn428His) c.120A>C (n.120A>C) c.1375A>C (p.Asn459His) c.1054A>C (p.Asn352His) c.1354A>C (p.Asn452His) c.1357A>C (p.Asn453His) c.1036A>C (p.Asn346His) c.1201A>C (p.Asn401His) c.701A>C (n.701A>C) c.868A>C (p.Asn290His) c.1327A>C (p.Asn443His) c.1219A>C (p.Asn407His) c.1372A>C (p.Asn458His) c.1324A>C (p.Asn442His) c.1207A>C (p.Asn403His) c.1189A>C (p.Asn397His)
3	g.69965042A>G	CA353559716	MITF	c.1309A>G (p.Asn437Asp) c.1306A>G (p.Asn436Asp) n.1531A>G c.1282A>G (p.Asn428Asp) c.120A>G (n.120A>G) c.1375A>G (p.Asn459Asp) c.1054A>G (p.Asn352Asp) c.1354A>G (p.Asn452Asp) c.1357A>G (p.Asn453Asp) c.1036A>G (p.Asn346Asp) c.1201A>G (p.Asn401Asp) c.701A>G (n.701A>G) c.868A>G (p.Asn290Asp) c.1327A>G (p.Asn443Asp) c.1219A>G (p.Asn407Asp) c.1372A>G (p.Asn458Asp) c.1324A>G (p.Asn442Asp) c.1207A>G (p.Asn403Asp) c.1189A>G (p.Asn397Asp)	ClinVar dbSNP gnomAD v2 gnomAD v4
3	g.69965042A>T	CA353559715	MITF	c.1309A>T (p.Asn437Tyr) c.1306A>T (p.Asn436Tyr) n.1531A>T c.1282A>T (p.Asn428Tyr) c.120A>T (n.120A>T) c.1375A>T (p.Asn459Tyr) c.1054A>T (p.Asn352Tyr) c.1354A>T (p.Asn452Tyr) c.1357A>T (p.Asn453Tyr) c.1036A>T (p.Asn346Tyr) c.1201A>T (p.Asn401Tyr) c.701A>T (n.701A>T) c.868A>T (p.Asn290Tyr) c.1327A>T (p.Asn443Tyr) c.1219A>T (p.Asn407Tyr) c.1372A>T (p.Asn458Tyr) c.1324A>T (p.Asn442Tyr) c.1207A>T (p.Asn403Tyr) c.1189A>T (p.Asn397Tyr)
3	g.69965043A>C	CA353559719	MITF	c.1310A>C (p.Asn437Thr) c.1307A>C (p.Asn436Thr) n.1532A>C c.1283A>C (p.Asn428Thr) c.121A>C (n.121A>C) c.1376A>C (p.Asn459Thr) c.1055A>C (p.Asn352Thr) c.1355A>C (p.Asn452Thr) c.1358A>C (p.Asn453Thr) c.1037A>C (p.Asn346Thr) c.1202A>C (p.Asn401Thr) c.702A>C (n.702A>C) c.869A>C (p.Asn290Thr) c.1328A>C (p.Asn443Thr) c.1220A>C (p.Asn407Thr) c.1373A>C (p.Asn458Thr) c.1325A>C (p.Asn442Thr) c.1208A>C (p.Asn403Thr) c.1190A>C (p.Asn397Thr)
3	g.69965043A>G	CA353559718	MITF	c.1310A>G (p.Asn437Ser) c.1307A>G (p.Asn436Ser) n.1532A>G c.1283A>G (p.Asn428Ser) c.121A>G (n.121A>G) c.1376A>G (p.Asn459Ser) c.1055A>G (p.Asn352Ser) c.1355A>G (p.Asn452Ser) c.1358A>G (p.Asn453Ser) c.1037A>G (p.Asn346Ser) c.1202A>G (p.Asn401Ser) c.702A>G (n.702A>G) c.869A>G (p.Asn290Ser) c.1328A>G (p.Asn443Ser) c.1220A>G (p.Asn407Ser) c.1373A>G (p.Asn458Ser) c.1325A>G (p.Asn442Ser) c.1208A>G (p.Asn403Ser) c.1190A>G (p.Asn397Ser)
3	g.69965043A>T	CA353559720	MITF	c.1310A>T (p.Asn437Ile) c.1307A>T (p.Asn436Ile) n.1532A>T c.1283A>T (p.Asn428Ile) c.121A>T (n.121A>T) c.1376A>T (p.Asn459Ile) c.1055A>T (p.Asn352Ile) c.1355A>T (p.Asn452Ile) c.1358A>T (p.Asn453Ile) c.1037A>T (p.Asn346Ile) c.1202A>T (p.Asn401Ile) c.702A>T (n.702A>T) c.869A>T (p.Asn290Ile) c.1328A>T (p.Asn443Ile) c.1220A>T (p.Asn407Ile) c.1373A>T (p.Asn458Ile) c.1325A>T (p.Asn442Ile) c.1208A>T (p.Asn403Ile) c.1190A>T (p.Asn397Ile)	dbSNP
3	g.69965043_69965044delinsAC	CA1373414234	MITF	c.1310_1311delinsAC (p.Asn437=) c.1307_1308delinsAC (p.Asn436=) n.1532_1533delinsAC c.1283_1284delinsAC (p.Asn428=) c.121_122delinsAC (n.121_122delinsAC) c.1376_1377delinsAC (p.Asn459=) c.1055_1056delinsAC (p.Asn352=) c.1355_1356delinsAC (p.Asn452=) c.1358_1359delinsAC (p.Asn453=) c.1037_1038delinsAC (p.Asn346=) c.1202_1203delinsAC (p.Asn401=) c.702_703delinsAC (n.702_703delinsAC) c.869_870delinsAC (p.Asn290=) c.1328_1329delinsAC (p.Asn443=) c.1220_1221delinsAC (p.Asn407=) c.1373_1374delinsAC (p.Asn458=) c.1325_1326delinsAC (p.Asn442=) c.1208_1209delinsAC (p.Asn403=) c.1190_1191delinsAC (p.Asn397=)
3	g.69965044del	CA1139658161	MITF	c.1311del (p.Asn437LysfsTer27) c.1308del (p.Asn436LysfsTer27) n.1533del c.1284del (p.Asn428LysfsTer27) c.122del (n.122del) c.1377del (p.Asn459LysfsTer27) c.1056del (p.Asn352LysfsTer27) c.1356del (p.Asn452LysfsTer27) c.1359del (p.Asn453LysfsTer27) c.1038del (p.Asn346LysfsTer27) c.1203del (p.Asn401LysfsTer27) c.703del (n.703del) c.870del (p.Asn290LysfsTer27) c.1329del (p.Asn443LysfsTer27) c.1221del (p.Asn407LysfsTer27) c.1374del (p.Asn458LysfsTer27) c.1326del (p.Asn442LysfsTer27) c.1209del (p.Asn403LysfsTer27) c.1191del (p.Asn397LysfsTer27)	ClinVar dbSNP
3	g.69965044C>A	CA353559721	MITF	c.1311C>A (p.Asn437Lys) c.1308C>A (p.Asn436Lys) n.1533C>A c.1284C>A (p.Asn428Lys) c.122C>A (n.122C>A) c.1377C>A (p.Asn459Lys) c.1056C>A (p.Asn352Lys) c.1356C>A (p.Asn452Lys) c.1359C>A (p.Asn453Lys) c.1038C>A (p.Asn346Lys) c.1203C>A (p.Asn401Lys) c.703C>A (n.703C>A) c.870C>A (p.Asn290Lys) c.1329C>A (p.Asn443Lys) c.1221C>A (p.Asn407Lys) c.1374C>A (p.Asn458Lys) c.1326C>A (p.Asn442Lys) c.1209C>A (p.Asn403Lys) c.1191C>A (p.Asn397Lys)	gnomAD v4
3	g.69965044C=	CA1373414240	MITF	c.1311C= (p.Asn437=) c.1308C= (p.Asn436=) n.1533C= c.1284C= (p.Asn428=) c.122C= (n.122C=) c.1377C= (p.Asn459=) c.1056C= (p.Asn352=) c.1356C= (p.Asn452=) c.1359C= (p.Asn453=) c.1038C= (p.Asn346=) c.1203C= (p.Asn401=) c.703C= (n.703C=) c.870C= (p.Asn290=) c.1329C= (p.Asn443=) c.1221C= (p.Asn407=) c.1374C= (p.Asn458=) c.1326C= (p.Asn442=) c.1209C= (p.Asn403=) c.1191C= (p.Asn397=)
3	g.69965044C>G	CA77003526	MITF	c.1311C>G (p.Asn437Lys) c.1308C>G (p.Asn436Lys) n.1533C>G c.1284C>G (p.Asn428Lys) c.122C>G (n.122C>G) c.1377C>G (p.Asn459Lys) c.1056C>G (p.Asn352Lys) c.1356C>G (p.Asn452Lys) c.1359C>G (p.Asn453Lys) c.1038C>G (p.Asn346Lys) c.1203C>G (p.Asn401Lys) c.703C>G (n.703C>G) c.870C>G (p.Asn290Lys) c.1329C>G (p.Asn443Lys) c.1221C>G (p.Asn407Lys) c.1374C>G (p.Asn458Lys) c.1326C>G (p.Asn442Lys) c.1209C>G (p.Asn403Lys) c.1191C>G (p.Asn397Lys)	dbSNP gnomAD v4
3	g.69965044C>T	CA434433742	MITF	c.1311C>T (p.Asn437=) c.1308C>T (p.Asn436=) n.1533C>T c.1284C>T (p.Asn428=) c.122C>T (n.122C>T) c.1377C>T (p.Asn459=) c.1056C>T (p.Asn352=) c.1356C>T (p.Asn452=) c.1359C>T (p.Asn453=) c.1038C>T (p.Asn346=) c.1203C>T (p.Asn401=) c.703C>T (n.703C>T) c.870C>T (p.Asn290=) c.1329C>T (p.Asn443=) c.1221C>T (p.Asn407=) c.1374C>T (p.Asn458=) c.1326C>T (p.Asn442=) c.1209C>T (p.Asn403=) c.1191C>T (p.Asn397=)
3	g.69965045A>C	CA353559722	MITF	c.1312A>C (p.Asn438His) c.1309A>C (p.Asn437His) n.1534A>C c.1285A>C (p.Asn429His) c.123A>C (n.123A>C) c.1378A>C (p.Asn460His) c.1057A>C (p.Asn353His) c.1357A>C (p.Asn453His) c.1360A>C (p.Asn454His) c.1039A>C (p.Asn347His) c.1204A>C (p.Asn402His) c.704A>C (n.704A>C) c.871A>C (p.Asn291His) c.1330A>C (p.Asn444His) c.1222A>C (p.Asn408His) c.1375A>C (p.Asn459His) c.1327A>C (p.Asn443His) c.1210A>C (p.Asn404His) c.1192A>C (p.Asn398His)
3	g.69965045A>G	CA353559723	MITF	c.1312A>G (p.Asn438Asp) c.1309A>G (p.Asn437Asp) n.1534A>G c.1285A>G (p.Asn429Asp) c.123A>G (n.123A>G) c.1378A>G (p.Asn460Asp) c.1057A>G (p.Asn353Asp) c.1357A>G (p.Asn453Asp) c.1360A>G (p.Asn454Asp) c.1039A>G (p.Asn347Asp) c.1204A>G (p.Asn402Asp) c.704A>G (n.704A>G) c.871A>G (p.Asn291Asp) c.1330A>G (p.Asn444Asp) c.1222A>G (p.Asn408Asp) c.1375A>G (p.Asn459Asp) c.1327A>G (p.Asn443Asp) c.1210A>G (p.Asn404Asp) c.1192A>G (p.Asn398Asp)
3	g.69965045A>T	CA353559724	MITF	c.1312A>T (p.Asn438Tyr) c.1309A>T (p.Asn437Tyr) n.1534A>T c.1285A>T (p.Asn429Tyr) c.123A>T (n.123A>T) c.1378A>T (p.Asn460Tyr) c.1057A>T (p.Asn353Tyr) c.1357A>T (p.Asn453Tyr) c.1360A>T (p.Asn454Tyr) c.1039A>T (p.Asn347Tyr) c.1204A>T (p.Asn402Tyr) c.704A>T (n.704A>T) c.871A>T (p.Asn291Tyr) c.1330A>T (p.Asn444Tyr) c.1222A>T (p.Asn408Tyr) c.1375A>T (p.Asn459Tyr) c.1327A>T (p.Asn443Tyr) c.1210A>T (p.Asn404Tyr) c.1192A>T (p.Asn398Tyr)
3	g.69965046A=	CA1373414247	MITF	c.1313A= (p.Asn438=) c.1310A= (p.Asn437=) n.1535A= c.1286A= (p.Asn429=) c.124A= (n.124A=) c.1379A= (p.Asn460=) c.1058A= (p.Asn353=) c.1358A= (p.Asn453=) c.1361A= (p.Asn454=) c.1040A= (p.Asn347=) c.1205A= (p.Asn402=) c.705A= (n.705A=) c.872A= (p.Asn291=) c.1331A= (p.Asn444=) c.1223A= (p.Asn408=) c.1376A= (p.Asn459=) c.1328A= (p.Asn443=) c.1211A= (p.Asn404=) c.1193A= (p.Asn398=)
3	g.69965046A>C	CA353559725	MITF	c.1313A>C (p.Asn438Thr) c.1310A>C (p.Asn437Thr) n.1535A>C c.1286A>C (p.Asn429Thr) c.124A>C (n.124A>C) c.1379A>C (p.Asn460Thr) c.1058A>C (p.Asn353Thr) c.1358A>C (p.Asn453Thr) c.1361A>C (p.Asn454Thr) c.1040A>C (p.Asn347Thr) c.1205A>C (p.Asn402Thr) c.705A>C (n.705A>C) c.872A>C (p.Asn291Thr) c.1331A>C (p.Asn444Thr) c.1223A>C (p.Asn408Thr) c.1376A>C (p.Asn459Thr) c.1328A>C (p.Asn443Thr) c.1211A>C (p.Asn404Thr) c.1193A>C (p.Asn398Thr)
3	g.69965046A>G	CA2490650	MITF	c.1313A>G (p.Asn438Ser) c.1310A>G (p.Asn437Ser) n.1535A>G c.1286A>G (p.Asn429Ser) c.124A>G (n.124A>G) c.1379A>G (p.Asn460Ser) c.1058A>G (p.Asn353Ser) c.1358A>G (p.Asn453Ser) c.1361A>G (p.Asn454Ser) c.1040A>G (p.Asn347Ser) c.1205A>G (p.Asn402Ser) c.705A>G (n.705A>G) c.872A>G (p.Asn291Ser) c.1331A>G (p.Asn444Ser) c.1223A>G (p.Asn408Ser) c.1376A>G (p.Asn459Ser) c.1328A>G (p.Asn443Ser) c.1211A>G (p.Asn404Ser) c.1193A>G (p.Asn398Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
3	g.69965046A>T	CA2490651	MITF	c.1313A>T (p.Asn438Ile) c.1310A>T (p.Asn437Ile) n.1535A>T c.1286A>T (p.Asn429Ile) c.124A>T (n.124A>T) c.1379A>T (p.Asn460Ile) c.1058A>T (p.Asn353Ile) c.1358A>T (p.Asn453Ile) c.1361A>T (p.Asn454Ile) c.1040A>T (p.Asn347Ile) c.1205A>T (p.Asn402Ile) c.705A>T (n.705A>T) c.872A>T (p.Asn291Ile) c.1331A>T (p.Asn444Ile) c.1223A>T (p.Asn408Ile) c.1376A>T (p.Asn459Ile) c.1328A>T (p.Asn443Ile) c.1211A>T (p.Asn404Ile) c.1193A>T (p.Asn398Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3	g.69965047C>A	CA353559726	MITF	c.1314C>A (p.Asn438Lys) c.1311C>A (p.Asn437Lys) n.1536C>A c.1287C>A (p.Asn429Lys) c.125C>A (n.125C>A) c.1380C>A (p.Asn460Lys) c.1059C>A (p.Asn353Lys) c.1359C>A (p.Asn453Lys) c.1362C>A (p.Asn454Lys) c.1041C>A (p.Asn347Lys) c.1206C>A (p.Asn402Lys) c.706C>A (n.706C>A) c.873C>A (p.Asn291Lys) c.1332C>A (p.Asn444Lys) c.1224C>A (p.Asn408Lys) c.1377C>A (p.Asn459Lys) c.1329C>A (p.Asn443Lys) c.1212C>A (p.Asn404Lys) c.1194C>A (p.Asn398Lys)	dbSNP
3	g.69965047C=	CA1373414251	MITF	c.1314C= (p.Asn438=) c.1311C= (p.Asn437=) n.1536C= c.1287C= (p.Asn429=) c.125C= (n.125C=) c.1380C= (p.Asn460=) c.1059C= (p.Asn353=) c.1359C= (p.Asn453=) c.1362C= (p.Asn454=) c.1041C= (p.Asn347=) c.1206C= (p.Asn402=) c.706C= (n.706C=) c.873C= (p.Asn291=) c.1332C= (p.Asn444=) c.1224C= (p.Asn408=) c.1377C= (p.Asn459=) c.1329C= (p.Asn443=) c.1212C= (p.Asn404=) c.1194C= (p.Asn398=)
3	g.69965047C>G	CA353559727	MITF	c.1314C>G (p.Asn438Lys) c.1311C>G (p.Asn437Lys) n.1536C>G c.1287C>G (p.Asn429Lys) c.125C>G (n.125C>G) c.1380C>G (p.Asn460Lys) c.1059C>G (p.Asn353Lys) c.1359C>G (p.Asn453Lys) c.1362C>G (p.Asn454Lys) c.1041C>G (p.Asn347Lys) c.1206C>G (p.Asn402Lys) c.706C>G (n.706C>G) c.873C>G (p.Asn291Lys) c.1332C>G (p.Asn444Lys) c.1224C>G (p.Asn408Lys) c.1377C>G (p.Asn459Lys) c.1329C>G (p.Asn443Lys) c.1212C>G (p.Asn404Lys) c.1194C>G (p.Asn398Lys)
3	g.69965047C>T	CA434433744	MITF	c.1314C>T (p.Asn438=) c.1311C>T (p.Asn437=) n.1536C>T c.1287C>T (p.Asn429=) c.125C>T (n.125C>T) c.1380C>T (p.Asn460=) c.1059C>T (p.Asn353=) c.1359C>T (p.Asn453=) c.1362C>T (p.Asn454=) c.1041C>T (p.Asn347=) c.1206C>T (p.Asn402=) c.706C>T (n.706C>T) c.873C>T (p.Asn291=) c.1332C>T (p.Asn444=) c.1224C>T (p.Asn408=) c.1377C>T (p.Asn459=) c.1329C>T (p.Asn443=) c.1212C>T (p.Asn404=) c.1194C>T (p.Asn398=)	dbSNP gnomAD v3 gnomAD v4
3	g.69965048C>A	CA2490652	MITF	c.1315C>A (p.Leu439Ile) c.1312C>A (p.Leu438Ile) n.1537C>A c.1288C>A (p.Leu430Ile) c.126C>A (n.126C>A) c.1381C>A (p.Leu461Ile) c.1060C>A (p.Leu354Ile) c.1360C>A (p.Leu454Ile) c.1363C>A (p.Leu455Ile) c.1042C>A (p.Leu348Ile) c.1207C>A (p.Leu403Ile) c.707C>A (n.707C>A) c.874C>A (p.Leu292Ile) c.1333C>A (p.Leu445Ile) c.1225C>A (p.Leu409Ile) c.1378C>A (p.Leu460Ile) c.1330C>A (p.Leu444Ile) c.1213C>A (p.Leu405Ile) c.1195C>A (p.Leu399Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.69965048C=	CA1373414256	MITF	c.1315C= (p.Leu439=) c.1312C= (p.Leu438=) n.1537C= c.1288C= (p.Leu430=) c.126C= (n.126C=) c.1381C= (p.Leu461=) c.1060C= (p.Leu354=) c.1360C= (p.Leu454=) c.1363C= (p.Leu455=) c.1042C= (p.Leu348=) c.1207C= (p.Leu403=) c.707C= (n.707C=) c.874C= (p.Leu292=) c.1333C= (p.Leu445=) c.1225C= (p.Leu409=) c.1378C= (p.Leu460=) c.1330C= (p.Leu444=) c.1213C= (p.Leu405=) c.1195C= (p.Leu399=)
3	g.69965048C>G	CA353559728	MITF	c.1315C>G (p.Leu439Val) c.1312C>G (p.Leu438Val) n.1537C>G c.1288C>G (p.Leu430Val) c.126C>G (n.126C>G) c.1381C>G (p.Leu461Val) c.1060C>G (p.Leu354Val) c.1360C>G (p.Leu454Val) c.1363C>G (p.Leu455Val) c.1042C>G (p.Leu348Val) c.1207C>G (p.Leu403Val) c.707C>G (n.707C>G) c.874C>G (p.Leu292Val) c.1333C>G (p.Leu445Val) c.1225C>G (p.Leu409Val) c.1378C>G (p.Leu460Val) c.1330C>G (p.Leu444Val) c.1213C>G (p.Leu405Val) c.1195C>G (p.Leu399Val)
3	g.69965048C>T	CA353559729	MITF	c.1315C>T (p.Leu439Phe) c.1312C>T (p.Leu438Phe) n.1537C>T c.1288C>T (p.Leu430Phe) c.126C>T (n.126C>T) c.1381C>T (p.Leu461Phe) c.1060C>T (p.Leu354Phe) c.1360C>T (p.Leu454Phe) c.1363C>T (p.Leu455Phe) c.1042C>T (p.Leu348Phe) c.1207C>T (p.Leu403Phe) c.707C>T (n.707C>T) c.874C>T (p.Leu292Phe) c.1333C>T (p.Leu445Phe) c.1225C>T (p.Leu409Phe) c.1378C>T (p.Leu460Phe) c.1330C>T (p.Leu444Phe) c.1213C>T (p.Leu405Phe) c.1195C>T (p.Leu399Phe)
3	g.69965049T>A	CA353559730	MITF	c.1316T>A (p.Leu439His) c.1313T>A (p.Leu438His) n.1538T>A c.1289T>A (p.Leu430His) c.127T>A (n.127T>A) c.1382T>A (p.Leu461His) c.1061T>A (p.Leu354His) c.1361T>A (p.Leu454His) c.1364T>A (p.Leu455His) c.1043T>A (p.Leu348His) c.1208T>A (p.Leu403His) c.708T>A (n.708T>A) c.875T>A (p.Leu292His) c.1334T>A (p.Leu445His) c.1226T>A (p.Leu409His) c.1379T>A (p.Leu460His) c.1331T>A (p.Leu444His) c.1214T>A (p.Leu405His) c.1196T>A (p.Leu399His)
3	g.69965049T>C	CA353559732	MITF	c.1316T>C (p.Leu439Pro) c.1313T>C (p.Leu438Pro) n.1538T>C c.1289T>C (p.Leu430Pro) c.127T>C (n.127T>C) c.1382T>C (p.Leu461Pro) c.1061T>C (p.Leu354Pro) c.1361T>C (p.Leu454Pro) c.1364T>C (p.Leu455Pro) c.1043T>C (p.Leu348Pro) c.1208T>C (p.Leu403Pro) c.708T>C (n.708T>C) c.875T>C (p.Leu292Pro) c.1334T>C (p.Leu445Pro) c.1226T>C (p.Leu409Pro) c.1379T>C (p.Leu460Pro) c.1331T>C (p.Leu444Pro) c.1214T>C (p.Leu405Pro) c.1196T>C (p.Leu399Pro)
3	g.69965049T>G	CA353559731	MITF	c.1316T>G (p.Leu439Arg) c.1313T>G (p.Leu438Arg) n.1538T>G c.1289T>G (p.Leu430Arg) c.127T>G (n.127T>G) c.1382T>G (p.Leu461Arg) c.1061T>G (p.Leu354Arg) c.1361T>G (p.Leu454Arg) c.1364T>G (p.Leu455Arg) c.1043T>G (p.Leu348Arg) c.1208T>G (p.Leu403Arg) c.708T>G (n.708T>G) c.875T>G (p.Leu292Arg) c.1334T>G (p.Leu445Arg) c.1226T>G (p.Leu409Arg) c.1379T>G (p.Leu460Arg) c.1331T>G (p.Leu444Arg) c.1214T>G (p.Leu405Arg) c.1196T>G (p.Leu399Arg)
3	g.69965050C>A	CA434433745	MITF	c.1317C>A (p.Leu439=) c.1314C>A (p.Leu438=) n.1539C>A c.1290C>A (p.Leu430=) c.128C>A (n.128C>A) c.1383C>A (p.Leu461=) c.1062C>A (p.Leu354=) c.1362C>A (p.Leu454=) c.1365C>A (p.Leu455=) c.1044C>A (p.Leu348=) c.1209C>A (p.Leu403=) c.709C>A (n.709C>A) c.876C>A (p.Leu292=) c.1335C>A (p.Leu445=) c.1227C>A (p.Leu409=) c.1380C>A (p.Leu460=) c.1332C>A (p.Leu444=) c.1215C>A (p.Leu405=) c.1197C>A (p.Leu399=)	dbSNP
3	g.69965050C=	CA1373414258	MITF	c.1317C= (p.Leu439=) c.1314C= (p.Leu438=) n.1539C= c.1290C= (p.Leu430=) c.128C= (n.128C=) c.1383C= (p.Leu461=) c.1062C= (p.Leu354=) c.1362C= (p.Leu454=) c.1365C= (p.Leu455=) c.1044C= (p.Leu348=) c.1209C= (p.Leu403=) c.709C= (n.709C=) c.876C= (p.Leu292=) c.1335C= (p.Leu445=) c.1227C= (p.Leu409=) c.1380C= (p.Leu460=) c.1332C= (p.Leu444=) c.1215C= (p.Leu405=) c.1197C= (p.Leu399=)
3	g.69965050C>G	CA434433746	MITF	c.1317C>G (p.Leu439=) c.1314C>G (p.Leu438=) n.1539C>G c.1290C>G (p.Leu430=) c.128C>G (n.128C>G) c.1383C>G (p.Leu461=) c.1062C>G (p.Leu354=) c.1362C>G (p.Leu454=) c.1365C>G (p.Leu455=) c.1044C>G (p.Leu348=) c.1209C>G (p.Leu403=) c.709C>G (n.709C>G) c.876C>G (p.Leu292=) c.1335C>G (p.Leu445=) c.1227C>G (p.Leu409=) c.1380C>G (p.Leu460=) c.1332C>G (p.Leu444=) c.1215C>G (p.Leu405=) c.1197C>G (p.Leu399=)	dbSNP
3	g.69965050C>T	CA2490653	MITF	c.1317C>T (p.Leu439=) c.1314C>T (p.Leu438=) n.1539C>T c.1290C>T (p.Leu430=) c.128C>T (n.128C>T) c.1383C>T (p.Leu461=) c.1062C>T (p.Leu354=) c.1362C>T (p.Leu454=) c.1365C>T (p.Leu455=) c.1044C>T (p.Leu348=) c.1209C>T (p.Leu403=) c.709C>T (n.709C>T) c.876C>T (p.Leu292=) c.1335C>T (p.Leu445=) c.1227C>T (p.Leu409=) c.1380C>T (p.Leu460=) c.1332C>T (p.Leu444=) c.1215C>T (p.Leu405=) c.1197C>T (p.Leu399=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.69965051G>A	CA2490654	MITF	c.1318G>A (p.Gly440Arg) c.1315G>A (p.Gly439Arg) n.1540G>A c.1291G>A (p.Gly431Arg) c.129G>A (n.129G>A) c.1384G>A (p.Gly462Arg) c.1063G>A (p.Gly355Arg) c.1363G>A (p.Gly455Arg) c.1366G>A (p.Gly456Arg) c.1045G>A (p.Gly349Arg) c.1210G>A (p.Gly404Arg) c.710G>A (n.710G>A) c.877G>A (p.Gly293Arg) c.1336G>A (p.Gly446Arg) c.1228G>A (p.Gly410Arg) c.1381G>A (p.Gly461Arg) c.1333G>A (p.Gly445Arg) c.1216G>A (p.Gly406Arg) c.1198G>A (p.Gly400Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
3	g.69965051G>C	CA353559733	MITF	c.1318G>C (p.Gly440Arg) c.1315G>C (p.Gly439Arg) n.1540G>C c.1291G>C (p.Gly431Arg) c.129G>C (n.129G>C) c.1384G>C (p.Gly462Arg) c.1063G>C (p.Gly355Arg) c.1363G>C (p.Gly455Arg) c.1366G>C (p.Gly456Arg) c.1045G>C (p.Gly349Arg) c.1210G>C (p.Gly404Arg) c.710G>C (n.710G>C) c.877G>C (p.Gly293Arg) c.1336G>C (p.Gly446Arg) c.1228G>C (p.Gly410Arg) c.1381G>C (p.Gly461Arg) c.1333G>C (p.Gly445Arg) c.1216G>C (p.Gly406Arg) c.1198G>C (p.Gly400Arg)	dbSNP
3	g.69965051G=	CA1373414263	MITF	c.1318G= (p.Gly440=) c.1315G= (p.Gly439=) n.1540G= c.1291G= (p.Gly431=) c.129G= (n.129G=) c.1384G= (p.Gly462=) c.1063G= (p.Gly355=) c.1363G= (p.Gly455=) c.1366G= (p.Gly456=) c.1045G= (p.Gly349=) c.1210G= (p.Gly404=) c.710G= (n.710G=) c.877G= (p.Gly293=) c.1336G= (p.Gly446=) c.1228G= (p.Gly410=) c.1381G= (p.Gly461=) c.1333G= (p.Gly445=) c.1216G= (p.Gly406=) c.1198G= (p.Gly400=)
3	g.69965051G>T	CA353559734	MITF	c.1318G>T (p.Gly440Ter) c.1315G>T (p.Gly439Ter) n.1540G>T c.1291G>T (p.Gly431Ter) c.129G>T (n.129G>T) c.1384G>T (p.Gly462Ter) c.1063G>T (p.Gly355Ter) c.1363G>T (p.Gly455Ter) c.1366G>T (p.Gly456Ter) c.1045G>T (p.Gly349Ter) c.1210G>T (p.Gly404Ter) c.710G>T (n.710G>T) c.877G>T (p.Gly293Ter) c.1336G>T (p.Gly446Ter) c.1228G>T (p.Gly410Ter) c.1381G>T (p.Gly461Ter) c.1333G>T (p.Gly445Ter) c.1216G>T (p.Gly406Ter) c.1198G>T (p.Gly400Ter)
3	g.69965052G>A	CA353559735	MITF	c.1319G>A (p.Gly440Glu) c.1316G>A (p.Gly439Glu) n.1541G>A c.1292G>A (p.Gly431Glu) c.130G>A (n.130G>A) c.1385G>A (p.Gly462Glu) c.1064G>A (p.Gly355Glu) c.1364G>A (p.Gly455Glu) c.1367G>A (p.Gly456Glu) c.1046G>A (p.Gly349Glu) c.1211G>A (p.Gly404Glu) c.711G>A (n.711G>A) c.878G>A (p.Gly293Glu) c.1337G>A (p.Gly446Glu) c.1229G>A (p.Gly410Glu) c.1382G>A (p.Gly461Glu) c.1334G>A (p.Gly445Glu) c.1217G>A (p.Gly406Glu) c.1199G>A (p.Gly400Glu)
3	g.69965052G>C	CA353559736	MITF	c.1319G>C (p.Gly440Ala) c.1316G>C (p.Gly439Ala) n.1541G>C c.1292G>C (p.Gly431Ala) c.130G>C (n.130G>C) c.1385G>C (p.Gly462Ala) c.1064G>C (p.Gly355Ala) c.1364G>C (p.Gly455Ala) c.1367G>C (p.Gly456Ala) c.1046G>C (p.Gly349Ala) c.1211G>C (p.Gly404Ala) c.711G>C (n.711G>C) c.878G>C (p.Gly293Ala) c.1337G>C (p.Gly446Ala) c.1229G>C (p.Gly410Ala) c.1382G>C (p.Gly461Ala) c.1334G>C (p.Gly445Ala) c.1217G>C (p.Gly406Ala) c.1199G>C (p.Gly400Ala)	dbSNP
3	g.69965052G>T	CA353559737	MITF	c.1319G>T (p.Gly440Val) c.1316G>T (p.Gly439Val) n.1541G>T c.1292G>T (p.Gly431Val) c.130G>T (n.130G>T) c.1385G>T (p.Gly462Val) c.1064G>T (p.Gly355Val) c.1364G>T (p.Gly455Val) c.1367G>T (p.Gly456Val) c.1046G>T (p.Gly349Val) c.1211G>T (p.Gly404Val) c.711G>T (n.711G>T) c.878G>T (p.Gly293Val) c.1337G>T (p.Gly446Val) c.1229G>T (p.Gly410Val) c.1382G>T (p.Gly461Val) c.1334G>T (p.Gly445Val) c.1217G>T (p.Gly406Val) c.1199G>T (p.Gly400Val)	gnomAD v4
3	g.69965053A>C	CA434433748	MITF	c.1320A>C (p.Gly440=) c.1317A>C (p.Gly439=) n.1542A>C c.1293A>C (p.Gly431=) c.131A>C (n.131A>C) c.1386A>C (p.Gly462=) c.1065A>C (p.Gly355=) c.1365A>C (p.Gly455=) c.1368A>C (p.Gly456=) c.1047A>C (p.Gly349=) c.1212A>C (p.Gly404=) c.712A>C (n.712A>C) c.879A>C (p.Gly293=) c.1338A>C (p.Gly446=) c.1230A>C (p.Gly410=) c.1383A>C (p.Gly461=) c.1335A>C (p.Gly445=) c.1218A>C (p.Gly406=) c.1200A>C (p.Gly400=)
3	g.69965053A>G	CA434433749	MITF	c.1320A>G (p.Gly440=) c.1317A>G (p.Gly439=) n.1542A>G c.1293A>G (p.Gly431=) c.131A>G (n.131A>G) c.1386A>G (p.Gly462=) c.1065A>G (p.Gly355=) c.1365A>G (p.Gly455=) c.1368A>G (p.Gly456=) c.1047A>G (p.Gly349=) c.1212A>G (p.Gly404=) c.712A>G (n.712A>G) c.879A>G (p.Gly293=) c.1338A>G (p.Gly446=) c.1230A>G (p.Gly410=) c.1383A>G (p.Gly461=) c.1335A>G (p.Gly445=) c.1218A>G (p.Gly406=) c.1200A>G (p.Gly400=)
3	g.69965053A>T	CA434433750	MITF	c.1320A>T (p.Gly440=) c.1317A>T (p.Gly439=) n.1542A>T c.1293A>T (p.Gly431=) c.131A>T (n.131A>T) c.1386A>T (p.Gly462=) c.1065A>T (p.Gly355=) c.1365A>T (p.Gly455=) c.1368A>T (p.Gly456=) c.1047A>T (p.Gly349=) c.1212A>T (p.Gly404=) c.712A>T (n.712A>T) c.879A>T (p.Gly293=) c.1338A>T (p.Gly446=) c.1230A>T (p.Gly410=) c.1383A>T (p.Gly461=) c.1335A>T (p.Gly445=) c.1218A>T (p.Gly406=) c.1200A>T (p.Gly400=)
3	g.69965054A>C	CA353559738	MITF	c.1321A>C (p.Thr441Pro) c.1318A>C (p.Thr440Pro) n.1543A>C c.1294A>C (p.Thr432Pro) c.132A>C (n.132A>C) c.1387A>C (p.Thr463Pro) c.1066A>C (p.Thr356Pro) c.1366A>C (p.Thr456Pro) c.1369A>C (p.Thr457Pro) c.1048A>C (p.Thr350Pro) c.1213A>C (p.Thr405Pro) c.713A>C (n.713A>C) c.880A>C (p.Thr294Pro) c.1339A>C (p.Thr447Pro) c.1231A>C (p.Thr411Pro) c.1384A>C (p.Thr462Pro) c.1336A>C (p.Thr446Pro) c.1219A>C (p.Thr407Pro) c.1201A>C (p.Thr401Pro)
3	g.69965054A>G	CA353559739	MITF	c.1321A>G (p.Thr441Ala) c.1318A>G (p.Thr440Ala) n.1543A>G c.1294A>G (p.Thr432Ala) c.132A>G (n.132A>G) c.1387A>G (p.Thr463Ala) c.1066A>G (p.Thr356Ala) c.1366A>G (p.Thr456Ala) c.1369A>G (p.Thr457Ala) c.1048A>G (p.Thr350Ala) c.1213A>G (p.Thr405Ala) c.713A>G (n.713A>G) c.880A>G (p.Thr294Ala) c.1339A>G (p.Thr447Ala) c.1231A>G (p.Thr411Ala) c.1384A>G (p.Thr462Ala) c.1336A>G (p.Thr446Ala) c.1219A>G (p.Thr407Ala) c.1201A>G (p.Thr401Ala)
3	g.69965054A>T	CA353559740	MITF	c.1321A>T (p.Thr441Ser) c.1318A>T (p.Thr440Ser) n.1543A>T c.1294A>T (p.Thr432Ser) c.132A>T (n.132A>T) c.1387A>T (p.Thr463Ser) c.1066A>T (p.Thr356Ser) c.1366A>T (p.Thr456Ser) c.1369A>T (p.Thr457Ser) c.1048A>T (p.Thr350Ser) c.1213A>T (p.Thr405Ser) c.713A>T (n.713A>T) c.880A>T (p.Thr294Ser) c.1339A>T (p.Thr447Ser) c.1231A>T (p.Thr411Ser) c.1384A>T (p.Thr462Ser) c.1336A>T (p.Thr446Ser) c.1219A>T (p.Thr407Ser) c.1201A>T (p.Thr401Ser)
3	g.69965055C>A	CA2490655	MITF	c.1322C>A (p.Thr441Asn) c.1319C>A (p.Thr440Asn) n.1544C>A c.1295C>A (p.Thr432Asn) c.133C>A (n.133C>A) c.1388C>A (p.Thr463Asn) c.1067C>A (p.Thr356Asn) c.1367C>A (p.Thr456Asn) c.1370C>A (p.Thr457Asn) c.1049C>A (p.Thr350Asn) c.1214C>A (p.Thr405Asn) c.714C>A (n.714C>A) c.881C>A (p.Thr294Asn) c.1340C>A (p.Thr447Asn) c.1232C>A (p.Thr411Asn) c.1385C>A (p.Thr462Asn) c.1337C>A (p.Thr446Asn) c.1220C>A (p.Thr407Asn) c.1202C>A (p.Thr401Asn)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.69965055C=	CA1373414270	MITF	c.1322C= (p.Thr441=) c.1319C= (p.Thr440=) n.1544C= c.1295C= (p.Thr432=) c.133C= (n.133C=) c.1388C= (p.Thr463=) c.1067C= (p.Thr356=) c.1367C= (p.Thr456=) c.1370C= (p.Thr457=) c.1049C= (p.Thr350=) c.1214C= (p.Thr405=) c.714C= (n.714C=) c.881C= (p.Thr294=) c.1340C= (p.Thr447=) c.1232C= (p.Thr411=) c.1385C= (p.Thr462=) c.1337C= (p.Thr446=) c.1220C= (p.Thr407=) c.1202C= (p.Thr401=)
3	g.69965055C>G	CA353559742	MITF	c.1322C>G (p.Thr441Ser) c.1319C>G (p.Thr440Ser) n.1544C>G c.1295C>G (p.Thr432Ser) c.133C>G (n.133C>G) c.1388C>G (p.Thr463Ser) c.1067C>G (p.Thr356Ser) c.1367C>G (p.Thr456Ser) c.1370C>G (p.Thr457Ser) c.1049C>G (p.Thr350Ser) c.1214C>G (p.Thr405Ser) c.714C>G (n.714C>G) c.881C>G (p.Thr294Ser) c.1340C>G (p.Thr447Ser) c.1232C>G (p.Thr411Ser) c.1385C>G (p.Thr462Ser) c.1337C>G (p.Thr446Ser) c.1220C>G (p.Thr407Ser) c.1202C>G (p.Thr401Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3	g.69965055C>T	CA353559741	MITF	c.1322C>T (p.Thr441Ile) c.1319C>T (p.Thr440Ile) n.1544C>T c.1295C>T (p.Thr432Ile) c.133C>T (n.133C>T) c.1388C>T (p.Thr463Ile) c.1067C>T (p.Thr356Ile) c.1367C>T (p.Thr456Ile) c.1370C>T (p.Thr457Ile) c.1049C>T (p.Thr350Ile) c.1214C>T (p.Thr405Ile) c.714C>T (n.714C>T) c.881C>T (p.Thr294Ile) c.1340C>T (p.Thr447Ile) c.1232C>T (p.Thr411Ile) c.1385C>T (p.Thr462Ile) c.1337C>T (p.Thr446Ile) c.1220C>T (p.Thr407Ile) c.1202C>T (p.Thr401Ile)	ClinVar gnomAD v4 COSMIC COSMIC
3	g.69965056T>A	CA434433751	MITF	c.1323T>A (p.Thr441=) c.1320T>A (p.Thr440=) n.1545T>A c.1296T>A (p.Thr432=) c.134T>A (n.134T>A) c.1389T>A (p.Thr463=) c.1068T>A (p.Thr356=) c.1368T>A (p.Thr456=) c.1371T>A (p.Thr457=) c.1050T>A (p.Thr350=) c.1215T>A (p.Thr405=) c.715T>A (n.715T>A) c.882T>A (p.Thr294=) c.1341T>A (p.Thr447=) c.1233T>A (p.Thr411=) c.1386T>A (p.Thr462=) c.1338T>A (p.Thr446=) c.1221T>A (p.Thr407=) c.1203T>A (p.Thr401=)
3	g.69965056T>C	CA434433752	MITF	c.1323T>C (p.Thr441=) c.1320T>C (p.Thr440=) n.1545T>C c.1296T>C (p.Thr432=) c.134T>C (n.134T>C) c.1389T>C (p.Thr463=) c.1068T>C (p.Thr356=) c.1368T>C (p.Thr456=) c.1371T>C (p.Thr457=) c.1050T>C (p.Thr350=) c.1215T>C (p.Thr405=) c.715T>C (n.715T>C) c.882T>C (p.Thr294=) c.1341T>C (p.Thr447=) c.1233T>C (p.Thr411=) c.1386T>C (p.Thr462=) c.1338T>C (p.Thr446=) c.1221T>C (p.Thr407=) c.1203T>C (p.Thr401=)
3	g.69965056T>G	CA434433753	MITF	c.1323T>G (p.Thr441=) c.1320T>G (p.Thr440=) n.1545T>G c.1296T>G (p.Thr432=) c.134T>G (n.134T>G) c.1389T>G (p.Thr463=) c.1068T>G (p.Thr356=) c.1368T>G (p.Thr456=) c.1371T>G (p.Thr457=) c.1050T>G (p.Thr350=) c.1215T>G (p.Thr405=) c.715T>G (n.715T>G) c.882T>G (p.Thr294=) c.1341T>G (p.Thr447=) c.1233T>G (p.Thr411=) c.1386T>G (p.Thr462=) c.1338T>G (p.Thr446=) c.1221T>G (p.Thr407=) c.1203T>G (p.Thr401=)
3	g.69965057G>A	CA353559743	MITF	c.1324G>A (p.Gly442Arg) c.1321G>A (p.Gly441Arg) n.1546G>A c.1297G>A (p.Gly433Arg) c.135G>A (n.135G>A) c.1390G>A (p.Gly464Arg) c.1069G>A (p.Gly357Arg) c.1369G>A (p.Gly457Arg) c.1372G>A (p.Gly458Arg) c.1051G>A (p.Gly351Arg) c.1216G>A (p.Gly406Arg) c.716G>A (n.716G>A) c.883G>A (p.Gly295Arg) c.1342G>A (p.Gly448Arg) c.1234G>A (p.Gly412Arg) c.1387G>A (p.Gly463Arg) c.1339G>A (p.Gly447Arg) c.1222G>A (p.Gly408Arg) c.1204G>A (p.Gly402Arg)
3	g.69965057G>C	CA353559744	MITF	c.1324G>C (p.Gly442Arg) c.1321G>C (p.Gly441Arg) n.1546G>C c.1297G>C (p.Gly433Arg) c.135G>C (n.135G>C) c.1390G>C (p.Gly464Arg) c.1069G>C (p.Gly357Arg) c.1369G>C (p.Gly457Arg) c.1372G>C (p.Gly458Arg) c.1051G>C (p.Gly351Arg) c.1216G>C (p.Gly406Arg) c.716G>C (n.716G>C) c.883G>C (p.Gly295Arg) c.1342G>C (p.Gly448Arg) c.1234G>C (p.Gly412Arg) c.1387G>C (p.Gly463Arg) c.1339G>C (p.Gly447Arg) c.1222G>C (p.Gly408Arg) c.1204G>C (p.Gly402Arg)
3	g.69965057G>T	CA353559745	MITF	c.1324G>T (p.Gly442Trp) c.1321G>T (p.Gly441Trp) n.1546G>T c.1297G>T (p.Gly433Trp) c.135G>T (n.135G>T) c.1390G>T (p.Gly464Trp) c.1069G>T (p.Gly357Trp) c.1369G>T (p.Gly457Trp) c.1372G>T (p.Gly458Trp) c.1051G>T (p.Gly351Trp) c.1216G>T (p.Gly406Trp) c.716G>T (n.716G>T) c.883G>T (p.Gly295Trp) c.1342G>T (p.Gly448Trp) c.1234G>T (p.Gly412Trp) c.1387G>T (p.Gly463Trp) c.1339G>T (p.Gly447Trp) c.1222G>T (p.Gly408Trp) c.1204G>T (p.Gly402Trp)
3	g.69965058G>A	CA353559746	MITF	c.1325G>A (p.Gly442Glu) c.1322G>A (p.Gly441Glu) n.1547G>A c.1298G>A (p.Gly433Glu) c.136G>A (n.136G>A) c.1391G>A (p.Gly464Glu) c.1070G>A (p.Gly357Glu) c.1370G>A (p.Gly457Glu) c.1373G>A (p.Gly458Glu) c.1052G>A (p.Gly351Glu) c.1217G>A (p.Gly406Glu) c.717G>A (n.717G>A) c.884G>A (p.Gly295Glu) c.1343G>A (p.Gly448Glu) c.1235G>A (p.Gly412Glu) c.1388G>A (p.Gly463Glu) c.1340G>A (p.Gly447Glu) c.1223G>A (p.Gly408Glu) c.1205G>A (p.Gly402Glu)
3	g.69965058G>C	CA353559747	MITF	c.1325G>C (p.Gly442Ala) c.1322G>C (p.Gly441Ala) n.1547G>C c.1298G>C (p.Gly433Ala) c.136G>C (n.136G>C) c.1391G>C (p.Gly464Ala) c.1070G>C (p.Gly357Ala) c.1370G>C (p.Gly457Ala) c.1373G>C (p.Gly458Ala) c.1052G>C (p.Gly351Ala) c.1217G>C (p.Gly406Ala) c.717G>C (n.717G>C) c.884G>C (p.Gly295Ala) c.1343G>C (p.Gly448Ala) c.1235G>C (p.Gly412Ala) c.1388G>C (p.Gly463Ala) c.1340G>C (p.Gly447Ala) c.1223G>C (p.Gly408Ala) c.1205G>C (p.Gly402Ala)
3	g.69965058G=	CA1373414272	MITF	c.1325G= (p.Gly442=) c.1322G= (p.Gly441=) n.1547G= c.1298G= (p.Gly433=) c.136G= (n.136G=) c.1391G= (p.Gly464=) c.1070G= (p.Gly357=) c.1370G= (p.Gly457=) c.1373G= (p.Gly458=) c.1052G= (p.Gly351=) c.1217G= (p.Gly406=) c.717G= (n.717G=) c.884G= (p.Gly295=) c.1343G= (p.Gly448=) c.1235G= (p.Gly412=) c.1388G= (p.Gly463=) c.1340G= (p.Gly447=) c.1223G= (p.Gly408=) c.1205G= (p.Gly402=)
3	g.69965058G>T	CA353559748	MITF	c.1325G>T (p.Gly442Val) c.1322G>T (p.Gly441Val) n.1547G>T c.1298G>T (p.Gly433Val) c.136G>T (n.136G>T) c.1391G>T (p.Gly464Val) c.1070G>T (p.Gly357Val) c.1370G>T (p.Gly457Val) c.1373G>T (p.Gly458Val) c.1052G>T (p.Gly351Val) c.1217G>T (p.Gly406Val) c.717G>T (n.717G>T) c.884G>T (p.Gly295Val) c.1343G>T (p.Gly448Val) c.1235G>T (p.Gly412Val) c.1388G>T (p.Gly463Val) c.1340G>T (p.Gly447Val) c.1223G>T (p.Gly408Val) c.1205G>T (p.Gly402Val)	ClinVar dbSNP gnomAD v2
3	g.69965059G>A	CA434433756	MITF	c.1326G>A (p.Gly442=) c.1323G>A (p.Gly441=) n.1548G>A c.1299G>A (p.Gly433=) c.137G>A (n.137G>A) c.1392G>A (p.Gly464=) c.1071G>A (p.Gly357=) c.1371G>A (p.Gly457=) c.1374G>A (p.Gly458=) c.1053G>A (p.Gly351=) c.1218G>A (p.Gly406=) c.718G>A (n.718G>A) c.885G>A (p.Gly295=) c.1344G>A (p.Gly448=) c.1236G>A (p.Gly412=) c.1389G>A (p.Gly463=) c.1341G>A (p.Gly447=) c.1224G>A (p.Gly408=) c.1206G>A (p.Gly402=)	ClinVar dbSNP gnomAD v4
3	g.69965059G>C	CA434433757	MITF	c.1326G>C (p.Gly442=) c.1323G>C (p.Gly441=) n.1548G>C c.1299G>C (p.Gly433=) c.137G>C (n.137G>C) c.1392G>C (p.Gly464=) c.1071G>C (p.Gly357=) c.1371G>C (p.Gly457=) c.1374G>C (p.Gly458=) c.1053G>C (p.Gly351=) c.1218G>C (p.Gly406=) c.718G>C (n.718G>C) c.885G>C (p.Gly295=) c.1344G>C (p.Gly448=) c.1236G>C (p.Gly412=) c.1389G>C (p.Gly463=) c.1341G>C (p.Gly447=) c.1224G>C (p.Gly408=) c.1206G>C (p.Gly402=)	dbSNP COSMIC COSMIC COSMIC COSMIC
3	g.69965059G=	CA1373414276	MITF	c.1326G= (p.Gly442=) c.1323G= (p.Gly441=) n.1548G= c.1299G= (p.Gly433=) c.137G= (n.137G=) c.1392G= (p.Gly464=) c.1071G= (p.Gly357=) c.1371G= (p.Gly457=) c.1374G= (p.Gly458=) c.1053G= (p.Gly351=) c.1218G= (p.Gly406=) c.718G= (n.718G=) c.885G= (p.Gly295=) c.1344G= (p.Gly448=) c.1236G= (p.Gly412=) c.1389G= (p.Gly463=) c.1341G= (p.Gly447=) c.1224G= (p.Gly408=) c.1206G= (p.Gly402=)
3	g.69965059G>T	CA2490656	MITF	c.1326G>T (p.Gly442=) c.1323G>T (p.Gly441=) n.1548G>T c.1299G>T (p.Gly433=) c.137G>T (n.137G>T) c.1392G>T (p.Gly464=) c.1071G>T (p.Gly357=) c.1371G>T (p.Gly457=) c.1374G>T (p.Gly458=) c.1053G>T (p.Gly351=) c.1218G>T (p.Gly406=) c.718G>T (n.718G>T) c.885G>T (p.Gly295=) c.1344G>T (p.Gly448=) c.1236G>T (p.Gly412=) c.1389G>T (p.Gly463=) c.1341G>T (p.Gly447=) c.1224G>T (p.Gly408=) c.1206G>T (p.Gly402=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.69965060A>C	CA353559749	MITF	c.1327A>C (p.Thr443Pro) c.1324A>C (p.Thr442Pro) n.1549A>C c.1300A>C (p.Thr434Pro) c.138A>C (n.138A>C) c.1393A>C (p.Thr465Pro) c.1072A>C (p.Thr358Pro) c.1372A>C (p.Thr458Pro) c.1375A>C (p.Thr459Pro) c.1054A>C (p.Thr352Pro) c.1219A>C (p.Thr407Pro) c.719A>C (n.719A>C) c.886A>C (p.Thr296Pro) c.1345A>C (p.Thr449Pro) c.1237A>C (p.Thr413Pro) c.1390A>C (p.Thr464Pro) c.1342A>C (p.Thr448Pro) c.1225A>C (p.Thr409Pro) c.1207A>C (p.Thr403Pro)
3	g.69965060A>G	CA353559750	MITF	c.1327A>G (p.Thr443Ala) c.1324A>G (p.Thr442Ala) n.1549A>G c.1300A>G (p.Thr434Ala) c.138A>G (n.138A>G) c.1393A>G (p.Thr465Ala) c.1072A>G (p.Thr358Ala) c.1372A>G (p.Thr458Ala) c.1375A>G (p.Thr459Ala) c.1054A>G (p.Thr352Ala) c.1219A>G (p.Thr407Ala) c.719A>G (n.719A>G) c.886A>G (p.Thr296Ala) c.1345A>G (p.Thr449Ala) c.1237A>G (p.Thr413Ala) c.1390A>G (p.Thr464Ala) c.1342A>G (p.Thr448Ala) c.1225A>G (p.Thr409Ala) c.1207A>G (p.Thr403Ala)
3	g.69965060A>T	CA353559751	MITF	c.1327A>T (p.Thr443Ser) c.1324A>T (p.Thr442Ser) n.1549A>T c.1300A>T (p.Thr434Ser) c.138A>T (n.138A>T) c.1393A>T (p.Thr465Ser) c.1072A>T (p.Thr358Ser) c.1372A>T (p.Thr458Ser) c.1375A>T (p.Thr459Ser) c.1054A>T (p.Thr352Ser) c.1219A>T (p.Thr407Ser) c.719A>T (n.719A>T) c.886A>T (p.Thr296Ser) c.1345A>T (p.Thr449Ser) c.1237A>T (p.Thr413Ser) c.1390A>T (p.Thr464Ser) c.1342A>T (p.Thr448Ser) c.1225A>T (p.Thr409Ser) c.1207A>T (p.Thr403Ser)	ClinVar
3	g.69965061C>A	CA353559752	MITF	c.1328C>A (p.Thr443Asn) c.1325C>A (p.Thr442Asn) n.1550C>A c.1301C>A (p.Thr434Asn) c.139C>A (n.139C>A) c.1394C>A (p.Thr465Asn) c.1073C>A (p.Thr358Asn) c.1373C>A (p.Thr458Asn) c.1376C>A (p.Thr459Asn) c.1055C>A (p.Thr352Asn) c.1220C>A (p.Thr407Asn) c.720C>A (n.720C>A) c.887C>A (p.Thr296Asn) c.1346C>A (p.Thr449Asn) c.1238C>A (p.Thr413Asn) c.1391C>A (p.Thr464Asn) c.1343C>A (p.Thr448Asn) c.1226C>A (p.Thr409Asn) c.1208C>A (p.Thr403Asn)
3	g.69965061C>G	CA353559753	MITF	c.1328C>G (p.Thr443Ser) c.1325C>G (p.Thr442Ser) n.1550C>G c.1301C>G (p.Thr434Ser) c.139C>G (n.139C>G) c.1394C>G (p.Thr465Ser) c.1073C>G (p.Thr358Ser) c.1373C>G (p.Thr458Ser) c.1376C>G (p.Thr459Ser) c.1055C>G (p.Thr352Ser) c.1220C>G (p.Thr407Ser) c.720C>G (n.720C>G) c.887C>G (p.Thr296Ser) c.1346C>G (p.Thr449Ser) c.1238C>G (p.Thr413Ser) c.1391C>G (p.Thr464Ser) c.1343C>G (p.Thr448Ser) c.1226C>G (p.Thr409Ser) c.1208C>G (p.Thr403Ser)
3	g.69965061C>T	CA353559754	MITF	c.1328C>T (p.Thr443Ile) c.1325C>T (p.Thr442Ile) n.1550C>T c.1301C>T (p.Thr434Ile) c.139C>T (n.139C>T) c.1394C>T (p.Thr465Ile) c.1073C>T (p.Thr358Ile) c.1373C>T (p.Thr458Ile) c.1376C>T (p.Thr459Ile) c.1055C>T (p.Thr352Ile) c.1220C>T (p.Thr407Ile) c.720C>T (n.720C>T) c.887C>T (p.Thr296Ile) c.1346C>T (p.Thr449Ile) c.1238C>T (p.Thr413Ile) c.1391C>T (p.Thr464Ile) c.1343C>T (p.Thr448Ile) c.1226C>T (p.Thr409Ile) c.1208C>T (p.Thr403Ile)	dbSNP
3	g.69965062T>A	CA434433758	MITF	c.1329T>A (p.Thr443=) c.1326T>A (p.Thr442=) n.1551T>A c.1302T>A (p.Thr434=) c.140T>A (n.140T>A) c.1395T>A (p.Thr465=) c.1074T>A (p.Thr358=) c.1374T>A (p.Thr458=) c.1377T>A (p.Thr459=) c.1056T>A (p.Thr352=) c.1221T>A (p.Thr407=) c.721T>A (n.721T>A) c.888T>A (p.Thr296=) c.1347T>A (p.Thr449=) c.1239T>A (p.Thr413=) c.1392T>A (p.Thr464=) c.1344T>A (p.Thr448=) c.1227T>A (p.Thr409=) c.1209T>A (p.Thr403=)
3	g.69965062T>C	CA434433759	MITF	c.1329T>C (p.Thr443=) c.1326T>C (p.Thr442=) n.1551T>C c.1302T>C (p.Thr434=) c.140T>C (n.140T>C) c.1395T>C (p.Thr465=) c.1074T>C (p.Thr358=) c.1374T>C (p.Thr458=) c.1377T>C (p.Thr459=) c.1056T>C (p.Thr352=) c.1221T>C (p.Thr407=) c.721T>C (n.721T>C) c.888T>C (p.Thr296=) c.1347T>C (p.Thr449=) c.1239T>C (p.Thr413=) c.1392T>C (p.Thr464=) c.1344T>C (p.Thr448=) c.1227T>C (p.Thr409=) c.1209T>C (p.Thr403=)
3	g.69965062T>G	CA434433761	MITF	c.1329T>G (p.Thr443=) c.1326T>G (p.Thr442=) n.1551T>G c.1302T>G (p.Thr434=) c.140T>G (n.140T>G) c.1395T>G (p.Thr465=) c.1074T>G (p.Thr358=) c.1374T>G (p.Thr458=) c.1377T>G (p.Thr459=) c.1056T>G (p.Thr352=) c.1221T>G (p.Thr407=) c.721T>G (n.721T>G) c.888T>G (p.Thr296=) c.1347T>G (p.Thr449=) c.1239T>G (p.Thr413=) c.1392T>G (p.Thr464=) c.1344T>G (p.Thr448=) c.1227T>G (p.Thr409=) c.1209T>G (p.Thr403=)
3	g.69965062dup	CA2577819707	MITF	c.1329dup (p.Glu444Ter) c.1326dup (p.Glu443Ter) n.1551dup c.1302dup (p.Glu435Ter) c.140dup (n.140dup) c.1395dup (p.Glu466Ter) c.1074dup (p.Glu359Ter) c.1374dup (p.Glu459Ter) c.1377dup (p.Glu460Ter) c.1056dup (p.Glu353Ter) c.1221dup (p.Glu408Ter) c.721dup (n.721dup) c.888dup (p.Glu297Ter) c.1347dup (p.Glu450Ter) c.1239dup (p.Glu414Ter) c.1392dup (p.Glu465Ter) c.1344dup (p.Glu449Ter) c.1227dup (p.Glu410Ter) c.1209dup (p.Glu404Ter)	gnomAD v4
3	g.69965063G>A	CA2490657	MITF	c.1330G>A (p.Glu444Lys) c.1327G>A (p.Glu443Lys) n.1552G>A c.1303G>A (p.Glu435Lys) c.141G>A (n.141G>A) c.1396G>A (p.Glu466Lys) c.1075G>A (p.Glu359Lys) c.1375G>A (p.Glu459Lys) c.1378G>A (p.Glu460Lys) c.1057G>A (p.Glu353Lys) c.1222G>A (p.Glu408Lys) c.722G>A (n.722G>A) c.889G>A (p.Glu297Lys) c.1348G>A (p.Glu450Lys) c.1240G>A (p.Glu414Lys) c.1393G>A (p.Glu465Lys) c.1345G>A (p.Glu449Lys) c.1228G>A (p.Glu410Lys) c.1210G>A (p.Glu404Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.69965063G>C	CA2490658	MITF	c.1330G>C (p.Glu444Gln) c.1327G>C (p.Glu443Gln) n.1552G>C c.1303G>C (p.Glu435Gln) c.141G>C (n.141G>C) c.1396G>C (p.Glu466Gln) c.1075G>C (p.Glu359Gln) c.1375G>C (p.Glu459Gln) c.1378G>C (p.Glu460Gln) c.1057G>C (p.Glu353Gln) c.1222G>C (p.Glu408Gln) c.722G>C (n.722G>C) c.889G>C (p.Glu297Gln) c.1348G>C (p.Glu450Gln) c.1240G>C (p.Glu414Gln) c.1393G>C (p.Glu465Gln) c.1345G>C (p.Glu449Gln) c.1228G>C (p.Glu410Gln) c.1210G>C (p.Glu404Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3	g.69965063G=	CA1373414282	MITF	c.1330G= (p.Glu444=) c.1327G= (p.Glu443=) n.1552G= c.1303G= (p.Glu435=) c.141G= (n.141G=) c.1396G= (p.Glu466=) c.1075G= (p.Glu359=) c.1375G= (p.Glu459=) c.1378G= (p.Glu460=) c.1057G= (p.Glu353=) c.1222G= (p.Glu408=) c.722G= (n.722G=) c.889G= (p.Glu297=) c.1348G= (p.Glu450=) c.1240G= (p.Glu414=) c.1393G= (p.Glu465=) c.1345G= (p.Glu449=) c.1228G= (p.Glu410=) c.1210G= (p.Glu404=)
3	g.69965063G>T	CA353559755	MITF	c.1330G>T (p.Glu444Ter) c.1327G>T (p.Glu443Ter) n.1552G>T c.1303G>T (p.Glu435Ter) c.141G>T (n.141G>T) c.1396G>T (p.Glu466Ter) c.1075G>T (p.Glu359Ter) c.1375G>T (p.Glu459Ter) c.1378G>T (p.Glu460Ter) c.1057G>T (p.Glu353Ter) c.1222G>T (p.Glu408Ter) c.722G>T (n.722G>T) c.889G>T (p.Glu297Ter) c.1348G>T (p.Glu450Ter) c.1240G>T (p.Glu414Ter) c.1393G>T (p.Glu465Ter) c.1345G>T (p.Glu449Ter) c.1228G>T (p.Glu410Ter) c.1210G>T (p.Glu404Ter)
3	g.69965064A>C	CA353559756	MITF	c.1331A>C (p.Glu444Ala) c.1328A>C (p.Glu443Ala) n.1553A>C c.1304A>C (p.Glu435Ala) c.142A>C (n.142A>C) c.1397A>C (p.Glu466Ala) c.1076A>C (p.Glu359Ala) c.1376A>C (p.Glu459Ala) c.1379A>C (p.Glu460Ala) c.1058A>C (p.Glu353Ala) c.1223A>C (p.Glu408Ala) c.723A>C (n.723A>C) c.890A>C (p.Glu297Ala) c.1349A>C (p.Glu450Ala) c.1241A>C (p.Glu414Ala) c.1394A>C (p.Glu465Ala) c.1346A>C (p.Glu449Ala) c.1229A>C (p.Glu410Ala) c.1211A>C (p.Glu404Ala)
3	g.69965064A>G	CA353559757	MITF	c.1331A>G (p.Glu444Gly) c.1328A>G (p.Glu443Gly) n.1553A>G c.1304A>G (p.Glu435Gly) c.142A>G (n.142A>G) c.1397A>G (p.Glu466Gly) c.1076A>G (p.Glu359Gly) c.1376A>G (p.Glu459Gly) c.1379A>G (p.Glu460Gly) c.1058A>G (p.Glu353Gly) c.1223A>G (p.Glu408Gly) c.723A>G (n.723A>G) c.890A>G (p.Glu297Gly) c.1349A>G (p.Glu450Gly) c.1241A>G (p.Glu414Gly) c.1394A>G (p.Glu465Gly) c.1346A>G (p.Glu449Gly) c.1229A>G (p.Glu410Gly) c.1211A>G (p.Glu404Gly)	gnomAD v4
3	g.69965064A>T	CA353559758	MITF	c.1331A>T (p.Glu444Val) c.1328A>T (p.Glu443Val) n.1553A>T c.1304A>T (p.Glu435Val) c.142A>T (n.142A>T) c.1397A>T (p.Glu466Val) c.1076A>T (p.Glu359Val) c.1376A>T (p.Glu459Val) c.1379A>T (p.Glu460Val) c.1058A>T (p.Glu353Val) c.1223A>T (p.Glu408Val) c.723A>T (n.723A>T) c.890A>T (p.Glu297Val) c.1349A>T (p.Glu450Val) c.1241A>T (p.Glu414Val) c.1394A>T (p.Glu465Val) c.1346A>T (p.Glu449Val) c.1229A>T (p.Glu410Val) c.1211A>T (p.Glu404Val)
3	g.69965065G>A	CA434433764	MITF	c.1332G>A (p.Glu444=) c.1329G>A (p.Glu443=) n.1554G>A c.1305G>A (p.Glu435=) c.143G>A (n.143G>A) c.1398G>A (p.Glu466=) c.1077G>A (p.Glu359=) c.1377G>A (p.Glu459=) c.1380G>A (p.Glu460=) c.1059G>A (p.Glu353=) c.1224G>A (p.Glu408=) c.724G>A (n.724G>A) c.891G>A (p.Glu297=) c.1350G>A (p.Glu450=) c.1242G>A (p.Glu414=) c.1395G>A (p.Glu465=) c.1347G>A (p.Glu449=) c.1230G>A (p.Glu410=) c.1212G>A (p.Glu404=)	ClinVar dbSNP
3	g.69965065G>C	CA353559759	MITF	c.1332G>C (p.Glu444Asp) c.1329G>C (p.Glu443Asp) n.1554G>C c.1305G>C (p.Glu435Asp) c.143G>C (n.143G>C) c.1398G>C (p.Glu466Asp) c.1077G>C (p.Glu359Asp) c.1377G>C (p.Glu459Asp) c.1380G>C (p.Glu460Asp) c.1059G>C (p.Glu353Asp) c.1224G>C (p.Glu408Asp) c.724G>C (n.724G>C) c.891G>C (p.Glu297Asp) c.1350G>C (p.Glu450Asp) c.1242G>C (p.Glu414Asp) c.1395G>C (p.Glu465Asp) c.1347G>C (p.Glu449Asp) c.1230G>C (p.Glu410Asp) c.1212G>C (p.Glu404Asp)	dbSNP
3	g.69965065G=	CA1373414288	MITF	c.1332G= (p.Glu444=) c.1329G= (p.Glu443=) n.1554G= c.1305G= (p.Glu435=) c.143G= (n.143G=) c.1398G= (p.Glu466=) c.1077G= (p.Glu359=) c.1377G= (p.Glu459=) c.1380G= (p.Glu460=) c.1059G= (p.Glu353=) c.1224G= (p.Glu408=) c.724G= (n.724G=) c.891G= (p.Glu297=) c.1350G= (p.Glu450=) c.1242G= (p.Glu414=) c.1395G= (p.Glu465=) c.1347G= (p.Glu449=) c.1230G= (p.Glu410=) c.1212G= (p.Glu404=)
3	g.69965065G>T	CA353559760	MITF	c.1332G>T (p.Glu444Asp) c.1329G>T (p.Glu443Asp) n.1554G>T c.1305G>T (p.Glu435Asp) c.143G>T (n.143G>T) c.1398G>T (p.Glu466Asp) c.1077G>T (p.Glu359Asp) c.1377G>T (p.Glu459Asp) c.1380G>T (p.Glu460Asp) c.1059G>T (p.Glu353Asp) c.1224G>T (p.Glu408Asp) c.724G>T (n.724G>T) c.891G>T (p.Glu297Asp) c.1350G>T (p.Glu450Asp) c.1242G>T (p.Glu414Asp) c.1395G>T (p.Glu465Asp) c.1347G>T (p.Glu449Asp) c.1230G>T (p.Glu410Asp) c.1212G>T (p.Glu404Asp)
3	g.69965066G>A	CA353559761	MITF	c.1333G>A (p.Ala445Thr) c.1330G>A (p.Ala444Thr) n.1555G>A c.1306G>A (p.Ala436Thr) c.144G>A (n.144G>A) c.1399G>A (p.Ala467Thr) c.1078G>A (p.Ala360Thr) c.1378G>A (p.Ala460Thr) c.1381G>A (p.Ala461Thr) c.1060G>A (p.Ala354Thr) c.1225G>A (p.Ala409Thr) c.725G>A (n.725G>A) c.892G>A (p.Ala298Thr) c.1351G>A (p.Ala451Thr) c.1243G>A (p.Ala415Thr) c.1396G>A (p.Ala466Thr) c.1348G>A (p.Ala450Thr) c.1231G>A (p.Ala411Thr) c.1213G>A (p.Ala405Thr)
3	g.69965066G>C	CA353559762	MITF	c.1333G>C (p.Ala445Pro) c.1330G>C (p.Ala444Pro) n.1555G>C c.1306G>C (p.Ala436Pro) c.144G>C (n.144G>C) c.1399G>C (p.Ala467Pro) c.1078G>C (p.Ala360Pro) c.1378G>C (p.Ala460Pro) c.1381G>C (p.Ala461Pro) c.1060G>C (p.Ala354Pro) c.1225G>C (p.Ala409Pro) c.725G>C (n.725G>C) c.892G>C (p.Ala298Pro) c.1351G>C (p.Ala451Pro) c.1243G>C (p.Ala415Pro) c.1396G>C (p.Ala466Pro) c.1348G>C (p.Ala450Pro) c.1231G>C (p.Ala411Pro) c.1213G>C (p.Ala405Pro)
3	g.69965066G>T	CA353559763	MITF	c.1333G>T (p.Ala445Ser) c.1330G>T (p.Ala444Ser) n.1555G>T c.1306G>T (p.Ala436Ser) c.144G>T (n.144G>T) c.1399G>T (p.Ala467Ser) c.1078G>T (p.Ala360Ser) c.1378G>T (p.Ala460Ser) c.1381G>T (p.Ala461Ser) c.1060G>T (p.Ala354Ser) c.1225G>T (p.Ala409Ser) c.725G>T (n.725G>T) c.892G>T (p.Ala298Ser) c.1351G>T (p.Ala451Ser) c.1243G>T (p.Ala415Ser) c.1396G>T (p.Ala466Ser) c.1348G>T (p.Ala450Ser) c.1231G>T (p.Ala411Ser) c.1213G>T (p.Ala405Ser)
3	g.69965067C>A	CA2490659	MITF	c.1334C>A (p.Ala445Asp) c.1331C>A (p.Ala444Asp) n.1556C>A c.1307C>A (p.Ala436Asp) c.145C>A (n.145C>A) c.1400C>A (p.Ala467Asp) c.1079C>A (p.Ala360Asp) c.1379C>A (p.Ala460Asp) c.1382C>A (p.Ala461Asp) c.1061C>A (p.Ala354Asp) c.1226C>A (p.Ala409Asp) c.726C>A (n.726C>A) c.893C>A (p.Ala298Asp) c.1352C>A (p.Ala451Asp) c.1244C>A (p.Ala415Asp) c.1397C>A (p.Ala466Asp) c.1349C>A (p.Ala450Asp) c.1232C>A (p.Ala411Asp) c.1214C>A (p.Ala405Asp)	dbSNP ExAC gnomAD v2
3	g.69965067C=	CA1373414292	MITF	c.1334C= (p.Ala445=) c.1331C= (p.Ala444=) n.1556C= c.1307C= (p.Ala436=) c.145C= (n.145C=) c.1400C= (p.Ala467=) c.1079C= (p.Ala360=) c.1379C= (p.Ala460=) c.1382C= (p.Ala461=) c.1061C= (p.Ala354=) c.1226C= (p.Ala409=) c.726C= (n.726C=) c.893C= (p.Ala298=) c.1352C= (p.Ala451=) c.1244C= (p.Ala415=) c.1397C= (p.Ala466=) c.1349C= (p.Ala450=) c.1232C= (p.Ala411=) c.1214C= (p.Ala405=)
3	g.69965067C>G	CA353559764	MITF	c.1334C>G (p.Ala445Gly) c.1331C>G (p.Ala444Gly) n.1556C>G c.1307C>G (p.Ala436Gly) c.145C>G (n.145C>G) c.1400C>G (p.Ala467Gly) c.1079C>G (p.Ala360Gly) c.1379C>G (p.Ala460Gly) c.1382C>G (p.Ala461Gly) c.1061C>G (p.Ala354Gly) c.1226C>G (p.Ala409Gly) c.726C>G (n.726C>G) c.893C>G (p.Ala298Gly) c.1352C>G (p.Ala451Gly) c.1244C>G (p.Ala415Gly) c.1397C>G (p.Ala466Gly) c.1349C>G (p.Ala450Gly) c.1232C>G (p.Ala411Gly) c.1214C>G (p.Ala405Gly)
3	g.69965067C>T	CA353559765	MITF	c.1334C>T (p.Ala445Val) c.1331C>T (p.Ala444Val) n.1556C>T c.1307C>T (p.Ala436Val) c.145C>T (n.145C>T) c.1400C>T (p.Ala467Val) c.1079C>T (p.Ala360Val) c.1379C>T (p.Ala460Val) c.1382C>T (p.Ala461Val) c.1061C>T (p.Ala354Val) c.1226C>T (p.Ala409Val) c.726C>T (n.726C>T) c.893C>T (p.Ala298Val) c.1352C>T (p.Ala451Val) c.1244C>T (p.Ala415Val) c.1397C>T (p.Ala466Val) c.1349C>T (p.Ala450Val) c.1232C>T (p.Ala411Val) c.1214C>T (p.Ala405Val)
3	g.69965068C>A	CA434433769	MITF	c.1335C>A (p.Ala445=) c.1332C>A (p.Ala444=) n.1557C>A c.1308C>A (p.Ala436=) c.146C>A (n.146C>A) c.1401C>A (p.Ala467=) c.1080C>A (p.Ala360=) c.1380C>A (p.Ala460=) c.1383C>A (p.Ala461=) c.1062C>A (p.Ala354=) c.1227C>A (p.Ala409=) c.727C>A (n.727C>A) c.894C>A (p.Ala298=) c.1353C>A (p.Ala451=) c.1245C>A (p.Ala415=) c.1398C>A (p.Ala466=) c.1350C>A (p.Ala450=) c.1233C>A (p.Ala411=) c.1215C>A (p.Ala405=)
3	g.69965068C>G	CA434433770	MITF	c.1335C>G (p.Ala445=) c.1332C>G (p.Ala444=) n.1557C>G c.1308C>G (p.Ala436=) c.146C>G (n.146C>G) c.1401C>G (p.Ala467=) c.1080C>G (p.Ala360=) c.1380C>G (p.Ala460=) c.1383C>G (p.Ala461=) c.1062C>G (p.Ala354=) c.1227C>G (p.Ala409=) c.727C>G (n.727C>G) c.894C>G (p.Ala298=) c.1353C>G (p.Ala451=) c.1245C>G (p.Ala415=) c.1398C>G (p.Ala466=) c.1350C>G (p.Ala450=) c.1233C>G (p.Ala411=) c.1215C>G (p.Ala405=)
3	g.69965068C>T	CA434433771	MITF	c.1335C>T (p.Ala445=) c.1332C>T (p.Ala444=) n.1557C>T c.1308C>T (p.Ala436=) c.146C>T (n.146C>T) c.1401C>T (p.Ala467=) c.1080C>T (p.Ala360=) c.1380C>T (p.Ala460=) c.1383C>T (p.Ala461=) c.1062C>T (p.Ala354=) c.1227C>T (p.Ala409=) c.727C>T (n.727C>T) c.894C>T (p.Ala298=) c.1353C>T (p.Ala451=) c.1245C>T (p.Ala415=) c.1398C>T (p.Ala466=) c.1350C>T (p.Ala450=) c.1233C>T (p.Ala411=) c.1215C>T (p.Ala405=)	ClinVar dbSNP gnomAD v4
3	g.69965069A>C	CA353559766	MITF	c.1336A>C (p.Asn446His) c.1333A>C (p.Asn445His) n.1558A>C c.1309A>C (p.Asn437His) c.147A>C (n.147A>C) c.1402A>C (p.Asn468His) c.1081A>C (p.Asn361His) c.1381A>C (p.Asn461His) c.1384A>C (p.Asn462His) c.1063A>C (p.Asn355His) c.1228A>C (p.Asn410His) c.728A>C (n.728A>C) c.895A>C (p.Asn299His) c.1354A>C (p.Asn452His) c.1246A>C (p.Asn416His) c.1399A>C (p.Asn467His) c.1351A>C (p.Asn451His) c.1234A>C (p.Asn412His) c.1216A>C (p.Asn406His)
3	g.69965069A>G	CA353559767	MITF	c.1336A>G (p.Asn446Asp) c.1333A>G (p.Asn445Asp) n.1558A>G c.1309A>G (p.Asn437Asp) c.147A>G (n.147A>G) c.1402A>G (p.Asn468Asp) c.1081A>G (p.Asn361Asp) c.1381A>G (p.Asn461Asp) c.1384A>G (p.Asn462Asp) c.1063A>G (p.Asn355Asp) c.1228A>G (p.Asn410Asp) c.728A>G (n.728A>G) c.895A>G (p.Asn299Asp) c.1354A>G (p.Asn452Asp) c.1246A>G (p.Asn416Asp) c.1399A>G (p.Asn467Asp) c.1351A>G (p.Asn451Asp) c.1234A>G (p.Asn412Asp) c.1216A>G (p.Asn406Asp)
3	g.69965069A>T	CA353559768	MITF	c.1336A>T (p.Asn446Tyr) c.1333A>T (p.Asn445Tyr) n.1558A>T c.1309A>T (p.Asn437Tyr) c.147A>T (n.147A>T) c.1402A>T (p.Asn468Tyr) c.1081A>T (p.Asn361Tyr) c.1381A>T (p.Asn461Tyr) c.1384A>T (p.Asn462Tyr) c.1063A>T (p.Asn355Tyr) c.1228A>T (p.Asn410Tyr) c.728A>T (n.728A>T) c.895A>T (p.Asn299Tyr) c.1354A>T (p.Asn452Tyr) c.1246A>T (p.Asn416Tyr) c.1399A>T (p.Asn467Tyr) c.1351A>T (p.Asn451Tyr) c.1234A>T (p.Asn412Tyr) c.1216A>T (p.Asn406Tyr)
3	g.69965070A=	CA1373414295	MITF	c.1337A= (p.Asn446=) c.1334A= (p.Asn445=) n.1559A= c.1310A= (p.Asn437=) c.148A= (n.148A=) c.1403A= (p.Asn468=) c.1082A= (p.Asn361=) c.1382A= (p.Asn461=) c.1385A= (p.Asn462=) c.1064A= (p.Asn355=) c.1229A= (p.Asn410=) c.729A= (n.729A=) c.896A= (p.Asn299=) c.1355A= (p.Asn452=) c.1247A= (p.Asn416=) c.1400A= (p.Asn467=) c.1352A= (p.Asn451=) c.1235A= (p.Asn412=) c.1217A= (p.Asn406=)
3	g.69965070A>C	CA353559770	MITF	c.1337A>C (p.Asn446Thr) c.1334A>C (p.Asn445Thr) n.1559A>C c.1310A>C (p.Asn437Thr) c.148A>C (n.148A>C) c.1403A>C (p.Asn468Thr) c.1082A>C (p.Asn361Thr) c.1382A>C (p.Asn461Thr) c.1385A>C (p.Asn462Thr) c.1064A>C (p.Asn355Thr) c.1229A>C (p.Asn410Thr) c.729A>C (n.729A>C) c.896A>C (p.Asn299Thr) c.1355A>C (p.Asn452Thr) c.1247A>C (p.Asn416Thr) c.1400A>C (p.Asn467Thr) c.1352A>C (p.Asn451Thr) c.1235A>C (p.Asn412Thr) c.1217A>C (p.Asn406Thr)
3	g.69965070A>G	CA353559771	MITF	c.1337A>G (p.Asn446Ser) c.1334A>G (p.Asn445Ser) n.1559A>G c.1310A>G (p.Asn437Ser) c.148A>G (n.148A>G) c.1403A>G (p.Asn468Ser) c.1082A>G (p.Asn361Ser) c.1382A>G (p.Asn461Ser) c.1385A>G (p.Asn462Ser) c.1064A>G (p.Asn355Ser) c.1229A>G (p.Asn410Ser) c.729A>G (n.729A>G) c.896A>G (p.Asn299Ser) c.1355A>G (p.Asn452Ser) c.1247A>G (p.Asn416Ser) c.1400A>G (p.Asn467Ser) c.1352A>G (p.Asn451Ser) c.1235A>G (p.Asn412Ser) c.1217A>G (p.Asn406Ser)	dbSNP gnomAD v2 gnomAD v4
3	g.69965070A>T	CA353559769	MITF	c.1337A>T (p.Asn446Ile) c.1334A>T (p.Asn445Ile) n.1559A>T c.1310A>T (p.Asn437Ile) c.148A>T (n.148A>T) c.1403A>T (p.Asn468Ile) c.1082A>T (p.Asn361Ile) c.1382A>T (p.Asn461Ile) c.1385A>T (p.Asn462Ile) c.1064A>T (p.Asn355Ile) c.1229A>T (p.Asn410Ile) c.729A>T (n.729A>T) c.896A>T (p.Asn299Ile) c.1355A>T (p.Asn452Ile) c.1247A>T (p.Asn416Ile) c.1400A>T (p.Asn467Ile) c.1352A>T (p.Asn451Ile) c.1235A>T (p.Asn412Ile) c.1217A>T (p.Asn406Ile)
3	g.69965071C>A	CA353559772	MITF	c.1338C>A (p.Asn446Lys) c.1335C>A (p.Asn445Lys) n.1560C>A c.1311C>A (p.Asn437Lys) c.149C>A (n.149C>A) c.1404C>A (p.Asn468Lys) c.1083C>A (p.Asn361Lys) c.1383C>A (p.Asn461Lys) c.1386C>A (p.Asn462Lys) c.1065C>A (p.Asn355Lys) c.1230C>A (p.Asn410Lys) c.730C>A (n.730C>A) c.897C>A (p.Asn299Lys) c.1356C>A (p.Asn452Lys) c.1248C>A (p.Asn416Lys) c.1401C>A (p.Asn467Lys) c.1353C>A (p.Asn451Lys) c.1236C>A (p.Asn412Lys) c.1218C>A (p.Asn406Lys)
3	g.69965071C=	CA1373414299	MITF	c.1338C= (p.Asn446=) c.1335C= (p.Asn445=) n.1560C= c.1311C= (p.Asn437=) c.149C= (n.149C=) c.1404C= (p.Asn468=) c.1083C= (p.Asn361=) c.1383C= (p.Asn461=) c.1386C= (p.Asn462=) c.1065C= (p.Asn355=) c.1230C= (p.Asn410=) c.730C= (n.730C=) c.897C= (p.Asn299=) c.1356C= (p.Asn452=) c.1248C= (p.Asn416=) c.1401C= (p.Asn467=) c.1353C= (p.Asn451=) c.1236C= (p.Asn412=) c.1218C= (p.Asn406=)
3	g.69965071C>G	CA353559773	MITF	c.1338C>G (p.Asn446Lys) c.1335C>G (p.Asn445Lys) n.1560C>G c.1311C>G (p.Asn437Lys) c.149C>G (n.149C>G) c.1404C>G (p.Asn468Lys) c.1083C>G (p.Asn361Lys) c.1383C>G (p.Asn461Lys) c.1386C>G (p.Asn462Lys) c.1065C>G (p.Asn355Lys) c.1230C>G (p.Asn410Lys) c.730C>G (n.730C>G) c.897C>G (p.Asn299Lys) c.1356C>G (p.Asn452Lys) c.1248C>G (p.Asn416Lys) c.1401C>G (p.Asn467Lys) c.1353C>G (p.Asn451Lys) c.1236C>G (p.Asn412Lys) c.1218C>G (p.Asn406Lys)
3	g.69965071C>T	CA2490660	MITF	c.1338C>T (p.Asn446=) c.1335C>T (p.Asn445=) n.1560C>T c.1311C>T (p.Asn437=) c.149C>T (n.149C>T) c.1404C>T (p.Asn468=) c.1083C>T (p.Asn361=) c.1383C>T (p.Asn461=) c.1386C>T (p.Asn462=) c.1065C>T (p.Asn355=) c.1230C>T (p.Asn410=) c.730C>T (n.730C>T) c.897C>T (p.Asn299=) c.1356C>T (p.Asn452=) c.1248C>T (p.Asn416=) c.1401C>T (p.Asn467=) c.1353C>T (p.Asn451=) c.1236C>T (p.Asn412=) c.1218C>T (p.Asn406=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.69965072C>A	CA2490661	MITF	c.1339C>A (p.Gln447Lys) c.1336C>A (p.Gln446Lys) n.1561C>A c.1312C>A (p.Gln438Lys) c.150C>A (n.150C>A) c.1405C>A (p.Gln469Lys) c.1084C>A (p.Gln362Lys) c.1384C>A (p.Gln462Lys) c.1387C>A (p.Gln463Lys) c.1066C>A (p.Gln356Lys) c.1231C>A (p.Gln411Lys) c.731C>A (n.731C>A) c.898C>A (p.Gln300Lys) c.1357C>A (p.Gln453Lys) c.1249C>A (p.Gln417Lys) c.1402C>A (p.Gln468Lys) c.1354C>A (p.Gln452Lys) c.1237C>A (p.Gln413Lys) c.1219C>A (p.Gln407Lys)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
3	g.69965072C=	CA1373414302	MITF	c.1339C= (p.Gln447=) c.1336C= (p.Gln446=) n.1561C= c.1312C= (p.Gln438=) c.150C= (n.150C=) c.1405C= (p.Gln469=) c.1084C= (p.Gln362=) c.1384C= (p.Gln462=) c.1387C= (p.Gln463=) c.1066C= (p.Gln356=) c.1231C= (p.Gln411=) c.731C= (n.731C=) c.898C= (p.Gln300=) c.1357C= (p.Gln453=) c.1249C= (p.Gln417=) c.1402C= (p.Gln468=) c.1354C= (p.Gln452=) c.1237C= (p.Gln413=) c.1219C= (p.Gln407=)
3	g.69965072C>G	CA353559775	MITF	c.1339C>G (p.Gln447Glu) c.1336C>G (p.Gln446Glu) n.1561C>G c.1312C>G (p.Gln438Glu) c.150C>G (n.150C>G) c.1405C>G (p.Gln469Glu) c.1084C>G (p.Gln362Glu) c.1384C>G (p.Gln462Glu) c.1387C>G (p.Gln463Glu) c.1066C>G (p.Gln356Glu) c.1231C>G (p.Gln411Glu) c.731C>G (n.731C>G) c.898C>G (p.Gln300Glu) c.1357C>G (p.Gln453Glu) c.1249C>G (p.Gln417Glu) c.1402C>G (p.Gln468Glu) c.1354C>G (p.Gln452Glu) c.1237C>G (p.Gln413Glu) c.1219C>G (p.Gln407Glu)
3	g.69965072C>T	CA353559774	MITF	c.1339C>T (p.Gln447Ter) c.1336C>T (p.Gln446Ter) n.1561C>T c.1312C>T (p.Gln438Ter) c.150C>T (n.150C>T) c.1405C>T (p.Gln469Ter) c.1084C>T (p.Gln362Ter) c.1384C>T (p.Gln462Ter) c.1387C>T (p.Gln463Ter) c.1066C>T (p.Gln356Ter) c.1231C>T (p.Gln411Ter) c.731C>T (n.731C>T) c.898C>T (p.Gln300Ter) c.1357C>T (p.Gln453Ter) c.1249C>T (p.Gln417Ter) c.1402C>T (p.Gln468Ter) c.1354C>T (p.Gln452Ter) c.1237C>T (p.Gln413Ter) c.1219C>T (p.Gln407Ter)
3	g.69965073A=	CA1373414305	MITF	c.1340A= (p.Gln447=) c.1337A= (p.Gln446=) n.1562A= c.1313A= (p.Gln438=) c.151A= (n.151A=) c.1406A= (p.Gln469=) c.1085A= (p.Gln362=) c.1385A= (p.Gln462=) c.1388A= (p.Gln463=) c.1067A= (p.Gln356=) c.1232A= (p.Gln411=) c.732A= (n.732A=) c.899A= (p.Gln300=) c.1358A= (p.Gln453=) c.1250A= (p.Gln417=) c.1403A= (p.Gln468=) c.1355A= (p.Gln452=) c.1238A= (p.Gln413=) c.1220A= (p.Gln407=)
3	g.69965073A>C	CA353559776	MITF	c.1340A>C (p.Gln447Pro) c.1337A>C (p.Gln446Pro) n.1562A>C c.1313A>C (p.Gln438Pro) c.151A>C (n.151A>C) c.1406A>C (p.Gln469Pro) c.1085A>C (p.Gln362Pro) c.1385A>C (p.Gln462Pro) c.1388A>C (p.Gln463Pro) c.1067A>C (p.Gln356Pro) c.1232A>C (p.Gln411Pro) c.732A>C (n.732A>C) c.899A>C (p.Gln300Pro) c.1358A>C (p.Gln453Pro) c.1250A>C (p.Gln417Pro) c.1403A>C (p.Gln468Pro) c.1355A>C (p.Gln452Pro) c.1238A>C (p.Gln413Pro) c.1220A>C (p.Gln407Pro)
3	g.69965073A>G	CA353559777	MITF	c.1340A>G (p.Gln447Arg) c.1337A>G (p.Gln446Arg) n.1562A>G c.1313A>G (p.Gln438Arg) c.151A>G (n.151A>G) c.1406A>G (p.Gln469Arg) c.1085A>G (p.Gln362Arg) c.1385A>G (p.Gln462Arg) c.1388A>G (p.Gln463Arg) c.1067A>G (p.Gln356Arg) c.1232A>G (p.Gln411Arg) c.732A>G (n.732A>G) c.899A>G (p.Gln300Arg) c.1358A>G (p.Gln453Arg) c.1250A>G (p.Gln417Arg) c.1403A>G (p.Gln468Arg) c.1355A>G (p.Gln452Arg) c.1238A>G (p.Gln413Arg) c.1220A>G (p.Gln407Arg)	dbSNP gnomAD v3 gnomAD v4
3	g.69965073A>T	CA353559778	MITF	c.1340A>T (p.Gln447Leu) c.1337A>T (p.Gln446Leu) n.1562A>T c.1313A>T (p.Gln438Leu) c.151A>T (n.151A>T) c.1406A>T (p.Gln469Leu) c.1085A>T (p.Gln362Leu) c.1385A>T (p.Gln462Leu) c.1388A>T (p.Gln463Leu) c.1067A>T (p.Gln356Leu) c.1232A>T (p.Gln411Leu) c.732A>T (n.732A>T) c.899A>T (p.Gln300Leu) c.1358A>T (p.Gln453Leu) c.1250A>T (p.Gln417Leu) c.1403A>T (p.Gln468Leu) c.1355A>T (p.Gln452Leu) c.1238A>T (p.Gln413Leu) c.1220A>T (p.Gln407Leu)
3	g.69965074A>C	CA353559779	MITF	c.1341A>C (p.Gln447His) c.1338A>C (p.Gln446His) n.1563A>C c.1314A>C (p.Gln438His) c.152A>C (n.152A>C) c.1407A>C (p.Gln469His) c.1086A>C (p.Gln362His) c.1386A>C (p.Gln462His) c.1389A>C (p.Gln463His) c.1068A>C (p.Gln356His) c.1233A>C (p.Gln411His) c.733A>C (n.733A>C) c.900A>C (p.Gln300His) c.1359A>C (p.Gln453His) c.1251A>C (p.Gln417His) c.1404A>C (p.Gln468His) c.1356A>C (p.Gln452His) c.1239A>C (p.Gln413His) c.1221A>C (p.Gln407His)
3	g.69965074A>G	CA434433775	MITF	c.1341A>G (p.Gln447=) c.1338A>G (p.Gln446=) n.1563A>G c.1314A>G (p.Gln438=) c.152A>G (n.152A>G) c.1407A>G (p.Gln469=) c.1086A>G (p.Gln362=) c.1386A>G (p.Gln462=) c.1389A>G (p.Gln463=) c.1068A>G (p.Gln356=) c.1233A>G (p.Gln411=) c.733A>G (n.733A>G) c.900A>G (p.Gln300=) c.1359A>G (p.Gln453=) c.1251A>G (p.Gln417=) c.1404A>G (p.Gln468=) c.1356A>G (p.Gln452=) c.1239A>G (p.Gln413=) c.1221A>G (p.Gln407=)
3	g.69965074A>T	CA353559780	MITF	c.1341A>T (p.Gln447His) c.1338A>T (p.Gln446His) n.1563A>T c.1314A>T (p.Gln438His) c.152A>T (n.152A>T) c.1407A>T (p.Gln469His) c.1086A>T (p.Gln362His) c.1386A>T (p.Gln462His) c.1389A>T (p.Gln463His) c.1068A>T (p.Gln356His) c.1233A>T (p.Gln411His) c.733A>T (n.733A>T) c.900A>T (p.Gln300His) c.1359A>T (p.Gln453His) c.1251A>T (p.Gln417His) c.1404A>T (p.Gln468His) c.1356A>T (p.Gln452His) c.1239A>T (p.Gln413His) c.1221A>T (p.Gln407His)
3	g.69965075G>A	CA353559781	MITF	c.1342G>A (p.Ala448Thr) c.1339G>A (p.Ala447Thr) n.1564G>A c.1315G>A (p.Ala439Thr) c.153G>A (n.153G>A) c.1408G>A (p.Ala470Thr) c.1087G>A (p.Ala363Thr) c.1387G>A (p.Ala463Thr) c.1390G>A (p.Ala464Thr) c.1069G>A (p.Ala357Thr) c.1234G>A (p.Ala412Thr) c.734G>A (n.734G>A) c.901G>A (p.Ala301Thr) c.1360G>A (p.Ala454Thr) c.1252G>A (p.Ala418Thr) c.1405G>A (p.Ala469Thr) c.1357G>A (p.Ala453Thr) c.1240G>A (p.Ala414Thr) c.1222G>A (p.Ala408Thr)	COSMIC COSMIC COSMIC COSMIC
3	g.69965075G>C	CA353559782	MITF	c.1342G>C (p.Ala448Pro) c.1339G>C (p.Ala447Pro) n.1564G>C c.1315G>C (p.Ala439Pro) c.153G>C (n.153G>C) c.1408G>C (p.Ala470Pro) c.1087G>C (p.Ala363Pro) c.1387G>C (p.Ala463Pro) c.1390G>C (p.Ala464Pro) c.1069G>C (p.Ala357Pro) c.1234G>C (p.Ala412Pro) c.734G>C (n.734G>C) c.901G>C (p.Ala301Pro) c.1360G>C (p.Ala454Pro) c.1252G>C (p.Ala418Pro) c.1405G>C (p.Ala469Pro) c.1357G>C (p.Ala453Pro) c.1240G>C (p.Ala414Pro) c.1222G>C (p.Ala408Pro)
3	g.69965075G>T	CA353559783	MITF	c.1342G>T (p.Ala448Ser) c.1339G>T (p.Ala447Ser) n.1564G>T c.1315G>T (p.Ala439Ser) c.153G>T (n.153G>T) c.1408G>T (p.Ala470Ser) c.1087G>T (p.Ala363Ser) c.1387G>T (p.Ala463Ser) c.1390G>T (p.Ala464Ser) c.1069G>T (p.Ala357Ser) c.1234G>T (p.Ala412Ser) c.734G>T (n.734G>T) c.901G>T (p.Ala301Ser) c.1360G>T (p.Ala454Ser) c.1252G>T (p.Ala418Ser) c.1405G>T (p.Ala469Ser) c.1357G>T (p.Ala453Ser) c.1240G>T (p.Ala414Ser) c.1222G>T (p.Ala408Ser)
3	g.69965076C>A	CA2490662	MITF	c.1343C>A (p.Ala448Asp) c.1340C>A (p.Ala447Asp) n.1565C>A c.1316C>A (p.Ala439Asp) c.154C>A (n.154C>A) c.1409C>A (p.Ala470Asp) c.1088C>A (p.Ala363Asp) c.1388C>A (p.Ala463Asp) c.1391C>A (p.Ala464Asp) c.1070C>A (p.Ala357Asp) c.1235C>A (p.Ala412Asp) c.735C>A (n.735C>A) c.902C>A (p.Ala301Asp) c.1361C>A (p.Ala454Asp) c.1253C>A (p.Ala418Asp) c.1406C>A (p.Ala469Asp) c.1358C>A (p.Ala453Asp) c.1241C>A (p.Ala414Asp) c.1223C>A (p.Ala408Asp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3	g.69965076C=	CA1373414309	MITF	c.1343C= (p.Ala448=) c.1340C= (p.Ala447=) n.1565C= c.1316C= (p.Ala439=) c.154C= (n.154C=) c.1409C= (p.Ala470=) c.1088C= (p.Ala363=) c.1388C= (p.Ala463=) c.1391C= (p.Ala464=) c.1070C= (p.Ala357=) c.1235C= (p.Ala412=) c.735C= (n.735C=) c.902C= (p.Ala301=) c.1361C= (p.Ala454=) c.1253C= (p.Ala418=) c.1406C= (p.Ala469=) c.1358C= (p.Ala453=) c.1241C= (p.Ala414=) c.1223C= (p.Ala408=)
3	g.69965076C>G	CA353559784	MITF	c.1343C>G (p.Ala448Gly) c.1340C>G (p.Ala447Gly) n.1565C>G c.1316C>G (p.Ala439Gly) c.154C>G (n.154C>G) c.1409C>G (p.Ala470Gly) c.1088C>G (p.Ala363Gly) c.1388C>G (p.Ala463Gly) c.1391C>G (p.Ala464Gly) c.1070C>G (p.Ala357Gly) c.1235C>G (p.Ala412Gly) c.735C>G (n.735C>G) c.902C>G (p.Ala301Gly) c.1361C>G (p.Ala454Gly) c.1253C>G (p.Ala418Gly) c.1406C>G (p.Ala469Gly) c.1358C>G (p.Ala453Gly) c.1241C>G (p.Ala414Gly) c.1223C>G (p.Ala408Gly)	dbSNP gnomAD v2 gnomAD v4
3	g.69965076C>T	CA353559785	MITF	c.1343C>T (p.Ala448Val) c.1340C>T (p.Ala447Val) n.1565C>T c.1316C>T (p.Ala439Val) c.154C>T (n.154C>T) c.1409C>T (p.Ala470Val) c.1088C>T (p.Ala363Val) c.1388C>T (p.Ala463Val) c.1391C>T (p.Ala464Val) c.1070C>T (p.Ala357Val) c.1235C>T (p.Ala412Val) c.735C>T (n.735C>T) c.902C>T (p.Ala301Val) c.1361C>T (p.Ala454Val) c.1253C>T (p.Ala418Val) c.1406C>T (p.Ala469Val) c.1358C>T (p.Ala453Val) c.1241C>T (p.Ala414Val) c.1223C>T (p.Ala408Val)
3	g.69965077C>A	CA434433776	MITF	c.1344C>A (p.Ala448=) c.1341C>A (p.Ala447=) n.1566C>A c.1317C>A (p.Ala439=) c.155C>A (n.155C>A) c.1410C>A (p.Ala470=) c.1089C>A (p.Ala363=) c.1389C>A (p.Ala463=) c.1392C>A (p.Ala464=) c.1071C>A (p.Ala357=) c.1236C>A (p.Ala412=) c.736C>A (n.736C>A) c.903C>A (p.Ala301=) c.1362C>A (p.Ala454=) c.1254C>A (p.Ala418=) c.1407C>A (p.Ala469=) c.1359C>A (p.Ala453=) c.1242C>A (p.Ala414=) c.1224C>A (p.Ala408=)	dbSNP gnomAD v4
3	g.69965077C>G	CA434433777	MITF	c.1344C>G (p.Ala448=) c.1341C>G (p.Ala447=) n.1566C>G c.1317C>G (p.Ala439=) c.155C>G (n.155C>G) c.1410C>G (p.Ala470=) c.1089C>G (p.Ala363=) c.1389C>G (p.Ala463=) c.1392C>G (p.Ala464=) c.1071C>G (p.Ala357=) c.1236C>G (p.Ala412=) c.736C>G (n.736C>G) c.903C>G (p.Ala301=) c.1362C>G (p.Ala454=) c.1254C>G (p.Ala418=) c.1407C>G (p.Ala469=) c.1359C>G (p.Ala453=) c.1242C>G (p.Ala414=) c.1224C>G (p.Ala408=)
3	g.69965077C>T	CA434433778	MITF	c.1344C>T (p.Ala448=) c.1341C>T (p.Ala447=) n.1566C>T c.1317C>T (p.Ala439=) c.155C>T (n.155C>T) c.1410C>T (p.Ala470=) c.1089C>T (p.Ala363=) c.1389C>T (p.Ala463=) c.1392C>T (p.Ala464=) c.1071C>T (p.Ala357=) c.1236C>T (p.Ala412=) c.736C>T (n.736C>T) c.903C>T (p.Ala301=) c.1362C>T (p.Ala454=) c.1254C>T (p.Ala418=) c.1407C>T (p.Ala469=) c.1359C>T (p.Ala453=) c.1242C>T (p.Ala414=) c.1224C>T (p.Ala408=)	gnomAD v4
3	g.69965078T>A	CA353559788	MITF	c.1345T>A (p.Tyr449Asn) c.1342T>A (p.Tyr448Asn) n.1567T>A c.1318T>A (p.Tyr440Asn) c.156T>A (n.156T>A) c.1411T>A (p.Tyr471Asn) c.1090T>A (p.Tyr364Asn) c.1390T>A (p.Tyr464Asn) c.1393T>A (p.Tyr465Asn) c.1072T>A (p.Tyr358Asn) c.1237T>A (p.Tyr413Asn) c.737T>A (n.737T>A) c.904T>A (p.Tyr302Asn) c.1363T>A (p.Tyr455Asn) c.1255T>A (p.Tyr419Asn) c.1408T>A (p.Tyr470Asn) c.1360T>A (p.Tyr454Asn) c.1243T>A (p.Tyr415Asn) c.1225T>A (p.Tyr409Asn)
3	g.69965078T>C	CA353559786	MITF	c.1345T>C (p.Tyr449His) c.1342T>C (p.Tyr448His) n.1567T>C c.1318T>C (p.Tyr440His) c.156T>C (n.156T>C) c.1411T>C (p.Tyr471His) c.1090T>C (p.Tyr364His) c.1390T>C (p.Tyr464His) c.1393T>C (p.Tyr465His) c.1072T>C (p.Tyr358His) c.1237T>C (p.Tyr413His) c.737T>C (n.737T>C) c.904T>C (p.Tyr302His) c.1363T>C (p.Tyr455His) c.1255T>C (p.Tyr419His) c.1408T>C (p.Tyr470His) c.1360T>C (p.Tyr454His) c.1243T>C (p.Tyr415His) c.1225T>C (p.Tyr409His)
3	g.69965078T>G	CA353559787	MITF	c.1345T>G (p.Tyr449Asp) c.1342T>G (p.Tyr448Asp) n.1567T>G c.1318T>G (p.Tyr440Asp) c.156T>G (n.156T>G) c.1411T>G (p.Tyr471Asp) c.1090T>G (p.Tyr364Asp) c.1390T>G (p.Tyr464Asp) c.1393T>G (p.Tyr465Asp) c.1072T>G (p.Tyr358Asp) c.1237T>G (p.Tyr413Asp) c.737T>G (n.737T>G) c.904T>G (p.Tyr302Asp) c.1363T>G (p.Tyr455Asp) c.1255T>G (p.Tyr419Asp) c.1408T>G (p.Tyr470Asp) c.1360T>G (p.Tyr454Asp) c.1243T>G (p.Tyr415Asp) c.1225T>G (p.Tyr409Asp)
3	g.69965079A=	CA1373414314	MITF	c.1346A= (p.Tyr449=) c.1343A= (p.Tyr448=) n.1568A= c.1319A= (p.Tyr440=) c.157A= (n.157A=) c.1412A= (p.Tyr471=) c.1091A= (p.Tyr364=) c.1391A= (p.Tyr464=) c.1394A= (p.Tyr465=) c.1073A= (p.Tyr358=) c.1238A= (p.Tyr413=) c.738A= (n.738A=) c.905A= (p.Tyr302=) c.1364A= (p.Tyr455=) c.1256A= (p.Tyr419=) c.1409A= (p.Tyr470=) c.1361A= (p.Tyr454=) c.1244A= (p.Tyr415=) c.1226A= (p.Tyr409=)
3	g.69965079A>C	CA353559789	MITF	c.1346A>C (p.Tyr449Ser) c.1343A>C (p.Tyr448Ser) n.1568A>C c.1319A>C (p.Tyr440Ser) c.157A>C (n.157A>C) c.1412A>C (p.Tyr471Ser) c.1091A>C (p.Tyr364Ser) c.1391A>C (p.Tyr464Ser) c.1394A>C (p.Tyr465Ser) c.1073A>C (p.Tyr358Ser) c.1238A>C (p.Tyr413Ser) c.738A>C (n.738A>C) c.905A>C (p.Tyr302Ser) c.1364A>C (p.Tyr455Ser) c.1256A>C (p.Tyr419Ser) c.1409A>C (p.Tyr470Ser) c.1361A>C (p.Tyr454Ser) c.1244A>C (p.Tyr415Ser) c.1226A>C (p.Tyr409Ser)
3	g.69965079A>G	CA2490663	MITF	c.1346A>G (p.Tyr449Cys) c.1343A>G (p.Tyr448Cys) n.1568A>G c.1319A>G (p.Tyr440Cys) c.157A>G (n.157A>G) c.1412A>G (p.Tyr471Cys) c.1091A>G (p.Tyr364Cys) c.1391A>G (p.Tyr464Cys) c.1394A>G (p.Tyr465Cys) c.1073A>G (p.Tyr358Cys) c.1238A>G (p.Tyr413Cys) c.738A>G (n.738A>G) c.905A>G (p.Tyr302Cys) c.1364A>G (p.Tyr455Cys) c.1256A>G (p.Tyr419Cys) c.1409A>G (p.Tyr470Cys) c.1361A>G (p.Tyr454Cys) c.1244A>G (p.Tyr415Cys) c.1226A>G (p.Tyr409Cys)	dbSNP ExAC gnomAD v3 gnomAD v4
3	g.69965079A>T	CA2490664	MITF	c.1346A>T (p.Tyr449Phe) c.1343A>T (p.Tyr448Phe) n.1568A>T c.1319A>T (p.Tyr440Phe) c.157A>T (n.157A>T) c.1412A>T (p.Tyr471Phe) c.1091A>T (p.Tyr364Phe) c.1391A>T (p.Tyr464Phe) c.1394A>T (p.Tyr465Phe) c.1073A>T (p.Tyr358Phe) c.1238A>T (p.Tyr413Phe) c.738A>T (n.738A>T) c.905A>T (p.Tyr302Phe) c.1364A>T (p.Tyr455Phe) c.1256A>T (p.Tyr419Phe) c.1409A>T (p.Tyr470Phe) c.1361A>T (p.Tyr454Phe) c.1244A>T (p.Tyr415Phe) c.1226A>T (p.Tyr409Phe)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.69965080T>A	CA353559790	MITF	c.1347T>A (p.Tyr449Ter) c.1344T>A (p.Tyr448Ter) n.1569T>A c.1320T>A (p.Tyr440Ter) c.158T>A (n.158T>A) c.1413T>A (p.Tyr471Ter) c.1092T>A (p.Tyr364Ter) c.1392T>A (p.Tyr464Ter) c.1395T>A (p.Tyr465Ter) c.1074T>A (p.Tyr358Ter) c.1239T>A (p.Tyr413Ter) c.739T>A (n.739T>A) c.906T>A (p.Tyr302Ter) c.1365T>A (p.Tyr455Ter) c.1257T>A (p.Tyr419Ter) c.1410T>A (p.Tyr470Ter) c.1362T>A (p.Tyr454Ter) c.1245T>A (p.Tyr415Ter) c.1227T>A (p.Tyr409Ter)
3	g.69965080T>C	CA434433779	MITF	c.1347T>C (p.Tyr449=) c.1344T>C (p.Tyr448=) n.1569T>C c.1320T>C (p.Tyr440=) c.158T>C (n.158T>C) c.1413T>C (p.Tyr471=) c.1092T>C (p.Tyr364=) c.1392T>C (p.Tyr464=) c.1395T>C (p.Tyr465=) c.1074T>C (p.Tyr358=) c.1239T>C (p.Tyr413=) c.739T>C (n.739T>C) c.906T>C (p.Tyr302=) c.1365T>C (p.Tyr455=) c.1257T>C (p.Tyr419=) c.1410T>C (p.Tyr470=) c.1362T>C (p.Tyr454=) c.1245T>C (p.Tyr415=) c.1227T>C (p.Tyr409=)	gnomAD v4
3	g.69965080T>G	CA353559791	MITF	c.1347T>G (p.Tyr449Ter) c.1344T>G (p.Tyr448Ter) n.1569T>G c.1320T>G (p.Tyr440Ter) c.158T>G (n.158T>G) c.1413T>G (p.Tyr471Ter) c.1092T>G (p.Tyr364Ter) c.1392T>G (p.Tyr464Ter) c.1395T>G (p.Tyr465Ter) c.1074T>G (p.Tyr358Ter) c.1239T>G (p.Tyr413Ter) c.739T>G (n.739T>G) c.906T>G (p.Tyr302Ter) c.1365T>G (p.Tyr455Ter) c.1257T>G (p.Tyr419Ter) c.1410T>G (p.Tyr470Ter) c.1362T>G (p.Tyr454Ter) c.1245T>G (p.Tyr415Ter) c.1227T>G (p.Tyr409Ter)
3	g.69965081A=	CA1373414321	MITF	c.1348A= (p.Ser450=) c.1345A= (p.Ser449=) n.1570A= c.1321A= (p.Ser441=) c.159A= (n.159A=) c.1414A= (p.Ser472=) c.1093A= (p.Ser365=) c.1393A= (p.Ser465=) c.1396A= (p.Ser466=) c.1075A= (p.Ser359=) c.1240A= (p.Ser414=) c.740A= (n.740A=) c.907A= (p.Ser303=) c.1366A= (p.Ser456=) c.1258A= (p.Ser420=) c.1411A= (p.Ser471=) c.1363A= (p.Ser455=) c.1246A= (p.Ser416=) c.1228A= (p.Ser410=)
3	g.69965081A>C	CA353559792	MITF	c.1348A>C (p.Ser450Arg) c.1345A>C (p.Ser449Arg) n.1570A>C c.1321A>C (p.Ser441Arg) c.159A>C (n.159A>C) c.1414A>C (p.Ser472Arg) c.1093A>C (p.Ser365Arg) c.1393A>C (p.Ser465Arg) c.1396A>C (p.Ser466Arg) c.1075A>C (p.Ser359Arg) c.1240A>C (p.Ser414Arg) c.740A>C (n.740A>C) c.907A>C (p.Ser303Arg) c.1366A>C (p.Ser456Arg) c.1258A>C (p.Ser420Arg) c.1411A>C (p.Ser471Arg) c.1363A>C (p.Ser455Arg) c.1246A>C (p.Ser416Arg) c.1228A>C (p.Ser410Arg)
3	g.69965081A>G	CA353559793	MITF	c.1348A>G (p.Ser450Gly) c.1345A>G (p.Ser449Gly) n.1570A>G c.1321A>G (p.Ser441Gly) c.159A>G (n.159A>G) c.1414A>G (p.Ser472Gly) c.1093A>G (p.Ser365Gly) c.1393A>G (p.Ser465Gly) c.1396A>G (p.Ser466Gly) c.1075A>G (p.Ser359Gly) c.1240A>G (p.Ser414Gly) c.740A>G (n.740A>G) c.907A>G (p.Ser303Gly) c.1366A>G (p.Ser456Gly) c.1258A>G (p.Ser420Gly) c.1411A>G (p.Ser471Gly) c.1363A>G (p.Ser455Gly) c.1246A>G (p.Ser416Gly) c.1228A>G (p.Ser410Gly)	dbSNP
3	g.69965081A>T	CA353559794	MITF	c.1348A>T (p.Ser450Cys) c.1345A>T (p.Ser449Cys) n.1570A>T c.1321A>T (p.Ser441Cys) c.159A>T (n.159A>T) c.1414A>T (p.Ser472Cys) c.1093A>T (p.Ser365Cys) c.1393A>T (p.Ser465Cys) c.1396A>T (p.Ser466Cys) c.1075A>T (p.Ser359Cys) c.1240A>T (p.Ser414Cys) c.740A>T (n.740A>T) c.907A>T (p.Ser303Cys) c.1366A>T (p.Ser456Cys) c.1258A>T (p.Ser420Cys) c.1411A>T (p.Ser471Cys) c.1363A>T (p.Ser455Cys) c.1246A>T (p.Ser416Cys) c.1228A>T (p.Ser410Cys)	gnomAD v4
3	g.69965082G>A	CA353559795	MITF	c.1349G>A (p.Ser450Asn) c.1346G>A (p.Ser449Asn) n.1571G>A c.1322G>A (p.Ser441Asn) c.160G>A (n.160G>A) c.1415G>A (p.Ser472Asn) c.1094G>A (p.Ser365Asn) c.1394G>A (p.Ser465Asn) c.1397G>A (p.Ser466Asn) c.1076G>A (p.Ser359Asn) c.1241G>A (p.Ser414Asn) c.741G>A (n.741G>A) c.908G>A (p.Ser303Asn) c.1367G>A (p.Ser456Asn) c.1259G>A (p.Ser420Asn) c.1412G>A (p.Ser471Asn) c.1364G>A (p.Ser455Asn) c.1247G>A (p.Ser416Asn) c.1229G>A (p.Ser410Asn)	dbSNP gnomAD v4
3	g.69965082G>C	CA353559796	MITF	c.1349G>C (p.Ser450Thr) c.1346G>C (p.Ser449Thr) n.1571G>C c.1322G>C (p.Ser441Thr) c.160G>C (n.160G>C) c.1415G>C (p.Ser472Thr) c.1094G>C (p.Ser365Thr) c.1394G>C (p.Ser465Thr) c.1397G>C (p.Ser466Thr) c.1076G>C (p.Ser359Thr) c.1241G>C (p.Ser414Thr) c.741G>C (n.741G>C) c.908G>C (p.Ser303Thr) c.1367G>C (p.Ser456Thr) c.1259G>C (p.Ser420Thr) c.1412G>C (p.Ser471Thr) c.1364G>C (p.Ser455Thr) c.1247G>C (p.Ser416Thr) c.1229G>C (p.Ser410Thr)
3	g.69965082G=	CA1373414323	MITF	c.1349G= (p.Ser450=) c.1346G= (p.Ser449=) n.1571G= c.1322G= (p.Ser441=) c.160G= (n.160G=) c.1415G= (p.Ser472=) c.1094G= (p.Ser365=) c.1394G= (p.Ser465=) c.1397G= (p.Ser466=) c.1076G= (p.Ser359=) c.1241G= (p.Ser414=) c.741G= (n.741G=) c.908G= (p.Ser303=) c.1367G= (p.Ser456=) c.1259G= (p.Ser420=) c.1412G= (p.Ser471=) c.1364G= (p.Ser455=) c.1247G= (p.Ser416=) c.1229G= (p.Ser410=)
3	g.69965082G>T	CA353559797	MITF	c.1349G>T (p.Ser450Ile) c.1346G>T (p.Ser449Ile) n.1571G>T c.1322G>T (p.Ser441Ile) c.160G>T (n.160G>T) c.1415G>T (p.Ser472Ile) c.1094G>T (p.Ser365Ile) c.1394G>T (p.Ser465Ile) c.1397G>T (p.Ser466Ile) c.1076G>T (p.Ser359Ile) c.1241G>T (p.Ser414Ile) c.741G>T (n.741G>T) c.908G>T (p.Ser303Ile) c.1367G>T (p.Ser456Ile) c.1259G>T (p.Ser420Ile) c.1412G>T (p.Ser471Ile) c.1364G>T (p.Ser455Ile) c.1247G>T (p.Ser416Ile) c.1229G>T (p.Ser410Ile)
3	g.69965083T>A	CA353559798	MITF	c.1350T>A (p.Ser450Arg) c.1347T>A (p.Ser449Arg) n.1572T>A c.1323T>A (p.Ser441Arg) c.161T>A (n.161T>A) c.1416T>A (p.Ser472Arg) c.1095T>A (p.Ser365Arg) c.1395T>A (p.Ser465Arg) c.1398T>A (p.Ser466Arg) c.1077T>A (p.Ser359Arg) c.1242T>A (p.Ser414Arg) c.742T>A (n.742T>A) c.909T>A (p.Ser303Arg) c.1368T>A (p.Ser456Arg) c.1260T>A (p.Ser420Arg) c.1413T>A (p.Ser471Arg) c.1365T>A (p.Ser455Arg) c.1248T>A (p.Ser416Arg) c.1230T>A (p.Ser410Arg)
3	g.69965083T>C	CA434433780	MITF	c.1350T>C (p.Ser450=) c.1347T>C (p.Ser449=) n.1572T>C c.1323T>C (p.Ser441=) c.161T>C (n.161T>C) c.1416T>C (p.Ser472=) c.1095T>C (p.Ser365=) c.1395T>C (p.Ser465=) c.1398T>C (p.Ser466=) c.1077T>C (p.Ser359=) c.1242T>C (p.Ser414=) c.742T>C (n.742T>C) c.909T>C (p.Ser303=) c.1368T>C (p.Ser456=) c.1260T>C (p.Ser420=) c.1413T>C (p.Ser471=) c.1365T>C (p.Ser455=) c.1248T>C (p.Ser416=) c.1230T>C (p.Ser410=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3	g.69965083T>G	CA353559799	MITF	c.1350T>G (p.Ser450Arg) c.1347T>G (p.Ser449Arg) n.1572T>G c.1323T>G (p.Ser441Arg) c.161T>G (n.161T>G) c.1416T>G (p.Ser472Arg) c.1095T>G (p.Ser365Arg) c.1395T>G (p.Ser465Arg) c.1398T>G (p.Ser466Arg) c.1077T>G (p.Ser359Arg) c.1242T>G (p.Ser414Arg) c.742T>G (n.742T>G) c.909T>G (p.Ser303Arg) c.1368T>G (p.Ser456Arg) c.1260T>G (p.Ser420Arg) c.1413T>G (p.Ser471Arg) c.1365T>G (p.Ser455Arg) c.1248T>G (p.Ser416Arg) c.1230T>G (p.Ser410Arg)
3	g.69965083T=	CA1373414325	MITF	c.1350T= (p.Ser450=) c.1347T= (p.Ser449=) n.1572T= c.1323T= (p.Ser441=) c.161T= (n.161T=) c.1416T= (p.Ser472=) c.1095T= (p.Ser365=) c.1395T= (p.Ser465=) c.1398T= (p.Ser466=) c.1077T= (p.Ser359=) c.1242T= (p.Ser414=) c.742T= (n.742T=) c.909T= (p.Ser303=) c.1368T= (p.Ser456=) c.1260T= (p.Ser420=) c.1413T= (p.Ser471=) c.1365T= (p.Ser455=) c.1248T= (p.Ser416=) c.1230T= (p.Ser410=)
3	g.69965084G>A	CA353559800	MITF	c.1351G>A (p.Val451Ile) c.1348G>A (p.Val450Ile) n.1573G>A c.1324G>A (p.Val442Ile) c.162G>A (n.162G>A) c.1417G>A (p.Val473Ile) c.1096G>A (p.Val366Ile) c.1396G>A (p.Val466Ile) c.1399G>A (p.Val467Ile) c.1078G>A (p.Val360Ile) c.1243G>A (p.Val415Ile) c.743G>A (n.743G>A) c.910G>A (p.Val304Ile) c.1369G>A (p.Val457Ile) c.1261G>A (p.Val421Ile) c.1414G>A (p.Val472Ile) c.1366G>A (p.Val456Ile) c.1249G>A (p.Val417Ile) c.1231G>A (p.Val411Ile)	ClinVar dbSNP
3	g.69965084G>C	CA353559801	MITF	c.1351G>C (p.Val451Leu) c.1348G>C (p.Val450Leu) n.1573G>C c.1324G>C (p.Val442Leu) c.162G>C (n.162G>C) c.1417G>C (p.Val473Leu) c.1096G>C (p.Val366Leu) c.1396G>C (p.Val466Leu) c.1399G>C (p.Val467Leu) c.1078G>C (p.Val360Leu) c.1243G>C (p.Val415Leu) c.743G>C (n.743G>C) c.910G>C (p.Val304Leu) c.1369G>C (p.Val457Leu) c.1261G>C (p.Val421Leu) c.1414G>C (p.Val472Leu) c.1366G>C (p.Val456Leu) c.1249G>C (p.Val417Leu) c.1231G>C (p.Val411Leu)
3	g.69965084G>T	CA353559802	MITF	c.1351G>T (p.Val451Phe) c.1348G>T (p.Val450Phe) n.1573G>T c.1324G>T (p.Val442Phe) c.162G>T (n.162G>T) c.1417G>T (p.Val473Phe) c.1096G>T (p.Val366Phe) c.1396G>T (p.Val466Phe) c.1399G>T (p.Val467Phe) c.1078G>T (p.Val360Phe) c.1243G>T (p.Val415Phe) c.743G>T (n.743G>T) c.910G>T (p.Val304Phe) c.1369G>T (p.Val457Phe) c.1261G>T (p.Val421Phe) c.1414G>T (p.Val472Phe) c.1366G>T (p.Val456Phe) c.1249G>T (p.Val417Phe) c.1231G>T (p.Val411Phe)
3	g.69965085T>A	CA353559803	MITF	c.1352T>A (p.Val451Asp) c.1349T>A (p.Val450Asp) n.1574T>A c.1325T>A (p.Val442Asp) c.163T>A (n.163T>A) c.1418T>A (p.Val473Asp) c.1097T>A (p.Val366Asp) c.1397T>A (p.Val466Asp) c.1400T>A (p.Val467Asp) c.1079T>A (p.Val360Asp) c.1244T>A (p.Val415Asp) c.744T>A (n.744T>A) c.911T>A (p.Val304Asp) c.1370T>A (p.Val457Asp) c.1262T>A (p.Val421Asp) c.1415T>A (p.Val472Asp) c.1367T>A (p.Val456Asp) c.1250T>A (p.Val417Asp) c.1232T>A (p.Val411Asp)
3	g.69965085T>C	CA353559804	MITF	c.1352T>C (p.Val451Ala) c.1349T>C (p.Val450Ala) n.1574T>C c.1325T>C (p.Val442Ala) c.163T>C (n.163T>C) c.1418T>C (p.Val473Ala) c.1097T>C (p.Val366Ala) c.1397T>C (p.Val466Ala) c.1400T>C (p.Val467Ala) c.1079T>C (p.Val360Ala) c.1244T>C (p.Val415Ala) c.744T>C (n.744T>C) c.911T>C (p.Val304Ala) c.1370T>C (p.Val457Ala) c.1262T>C (p.Val421Ala) c.1415T>C (p.Val472Ala) c.1367T>C (p.Val456Ala) c.1250T>C (p.Val417Ala) c.1232T>C (p.Val411Ala)
3	g.69965085T>G	CA353559805	MITF	c.1352T>G (p.Val451Gly) c.1349T>G (p.Val450Gly) n.1574T>G c.1325T>G (p.Val442Gly) c.163T>G (n.163T>G) c.1418T>G (p.Val473Gly) c.1097T>G (p.Val366Gly) c.1397T>G (p.Val466Gly) c.1400T>G (p.Val467Gly) c.1079T>G (p.Val360Gly) c.1244T>G (p.Val415Gly) c.744T>G (n.744T>G) c.911T>G (p.Val304Gly) c.1370T>G (p.Val457Gly) c.1262T>G (p.Val421Gly) c.1415T>G (p.Val472Gly) c.1367T>G (p.Val456Gly) c.1250T>G (p.Val417Gly) c.1232T>G (p.Val411Gly)
3	g.69965086C>A	CA2490665	MITF	c.1353C>A (p.Val451=) c.1350C>A (p.Val450=) n.1575C>A c.1326C>A (p.Val442=) c.164C>A (n.164C>A) c.1419C>A (p.Val473=) c.1098C>A (p.Val366=) c.1398C>A (p.Val466=) c.1401C>A (p.Val467=) c.1080C>A (p.Val360=) c.1245C>A (p.Val415=) c.745C>A (n.745C>A) c.912C>A (p.Val304=) c.1371C>A (p.Val457=) c.1263C>A (p.Val421=) c.1416C>A (p.Val472=) c.1368C>A (p.Val456=) c.1251C>A (p.Val417=) c.1233C>A (p.Val411=)	dbSNP ExAC gnomAD v2
3	g.69965086C=	CA1373414327	MITF	c.1353C= (p.Val451=) c.1350C= (p.Val450=) n.1575C= c.1326C= (p.Val442=) c.164C= (n.164C=) c.1419C= (p.Val473=) c.1098C= (p.Val366=) c.1398C= (p.Val466=) c.1401C= (p.Val467=) c.1080C= (p.Val360=) c.1245C= (p.Val415=) c.745C= (n.745C=) c.912C= (p.Val304=) c.1371C= (p.Val457=) c.1263C= (p.Val421=) c.1416C= (p.Val472=) c.1368C= (p.Val456=) c.1251C= (p.Val417=) c.1233C= (p.Val411=)
3	g.69965086C>G	CA434433782	MITF	c.1353C>G (p.Val451=) c.1350C>G (p.Val450=) n.1575C>G c.1326C>G (p.Val442=) c.164C>G (n.164C>G) c.1419C>G (p.Val473=) c.1098C>G (p.Val366=) c.1398C>G (p.Val466=) c.1401C>G (p.Val467=) c.1080C>G (p.Val360=) c.1245C>G (p.Val415=) c.745C>G (n.745C>G) c.912C>G (p.Val304=) c.1371C>G (p.Val457=) c.1263C>G (p.Val421=) c.1416C>G (p.Val472=) c.1368C>G (p.Val456=) c.1251C>G (p.Val417=) c.1233C>G (p.Val411=)
3	g.69965086C>T	CA434433781	MITF	c.1353C>T (p.Val451=) c.1350C>T (p.Val450=) n.1575C>T c.1326C>T (p.Val442=) c.164C>T (n.164C>T) c.1419C>T (p.Val473=) c.1098C>T (p.Val366=) c.1398C>T (p.Val466=) c.1401C>T (p.Val467=) c.1080C>T (p.Val360=) c.1245C>T (p.Val415=) c.745C>T (n.745C>T) c.912C>T (p.Val304=) c.1371C>T (p.Val457=) c.1263C>T (p.Val421=) c.1416C>T (p.Val472=) c.1368C>T (p.Val456=) c.1251C>T (p.Val417=) c.1233C>T (p.Val411=)	dbSNP
3	g.69965086_69965096del	CA2666480944	MITF	c.1353_1363del (p.Pro452GlyfsTer20) c.1350_1360del (p.Pro451GlyfsTer20) n.1575_1585del c.1326_1336del (p.Pro443GlyfsTer20) c.164_174del (n.164_174del) c.1419_1429del (p.Pro474GlyfsTer20) c.1098_1108del (p.Pro367GlyfsTer20) c.1398_1408del (p.Pro467GlyfsTer20) c.1401_1411del (p.Pro468GlyfsTer20) c.1080_1090del (p.Pro361GlyfsTer20) c.1245_1255del (p.Pro416GlyfsTer20) c.745_755del (n.745_755del) c.912_922del (p.Pro305GlyfsTer20) c.1371_1381del (p.Pro458GlyfsTer20) c.1263_1273del (p.Pro422GlyfsTer20) c.1416_1426del (p.Pro473GlyfsTer20) c.1368_1378del (p.Pro457GlyfsTer20) c.1251_1261del (p.Pro418GlyfsTer20) c.1233_1243del (p.Pro412GlyfsTer20)	gnomAD v4
3	g.69965087C>A	CA353559806	MITF	c.1354C>A (p.Pro452Thr) c.1351C>A (p.Pro451Thr) n.1576C>A c.1327C>A (p.Pro443Thr) c.165C>A (n.165C>A) c.1420C>A (p.Pro474Thr) c.1099C>A (p.Pro367Thr) c.1399C>A (p.Pro467Thr) c.1402C>A (p.Pro468Thr) c.1081C>A (p.Pro361Thr) c.1246C>A (p.Pro416Thr) c.746C>A (n.746C>A) c.913C>A (p.Pro305Thr) c.1372C>A (p.Pro458Thr) c.1264C>A (p.Pro422Thr) c.1417C>A (p.Pro473Thr) c.1369C>A (p.Pro457Thr) c.1252C>A (p.Pro418Thr) c.1234C>A (p.Pro412Thr)
3	g.69965087C=	CA1373414331	MITF	c.1354C= (p.Pro452=) c.1351C= (p.Pro451=) n.1576C= c.1327C= (p.Pro443=) c.165C= (n.165C=) c.1420C= (p.Pro474=) c.1099C= (p.Pro367=) c.1399C= (p.Pro467=) c.1402C= (p.Pro468=) c.1081C= (p.Pro361=) c.1246C= (p.Pro416=) c.746C= (n.746C=) c.913C= (p.Pro305=) c.1372C= (p.Pro458=) c.1264C= (p.Pro422=) c.1417C= (p.Pro473=) c.1369C= (p.Pro457=) c.1252C= (p.Pro418=) c.1234C= (p.Pro412=)
3	g.69965087C>G	CA353559807	MITF	c.1354C>G (p.Pro452Ala) c.1351C>G (p.Pro451Ala) n.1576C>G c.1327C>G (p.Pro443Ala) c.165C>G (n.165C>G) c.1420C>G (p.Pro474Ala) c.1099C>G (p.Pro367Ala) c.1399C>G (p.Pro467Ala) c.1402C>G (p.Pro468Ala) c.1081C>G (p.Pro361Ala) c.1246C>G (p.Pro416Ala) c.746C>G (n.746C>G) c.913C>G (p.Pro305Ala) c.1372C>G (p.Pro458Ala) c.1264C>G (p.Pro422Ala) c.1417C>G (p.Pro473Ala) c.1369C>G (p.Pro457Ala) c.1252C>G (p.Pro418Ala) c.1234C>G (p.Pro412Ala)
3	g.69965087C>T	CA2490666	MITF	c.1354C>T (p.Pro452Ser) c.1351C>T (p.Pro451Ser) n.1576C>T c.1327C>T (p.Pro443Ser) c.165C>T (n.165C>T) c.1420C>T (p.Pro474Ser) c.1099C>T (p.Pro367Ser) c.1399C>T (p.Pro467Ser) c.1402C>T (p.Pro468Ser) c.1081C>T (p.Pro361Ser) c.1246C>T (p.Pro416Ser) c.746C>T (n.746C>T) c.913C>T (p.Pro305Ser) c.1372C>T (p.Pro458Ser) c.1264C>T (p.Pro422Ser) c.1417C>T (p.Pro473Ser) c.1369C>T (p.Pro457Ser) c.1252C>T (p.Pro418Ser) c.1234C>T (p.Pro412Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.69965088C>A	CA353559808	MITF	c.1355C>A (p.Pro452His) c.1352C>A (p.Pro451His) n.1577C>A c.1328C>A (p.Pro443His) c.166C>A (n.166C>A) c.1421C>A (p.Pro474His) c.1100C>A (p.Pro367His) c.1400C>A (p.Pro467His) c.1403C>A (p.Pro468His) c.1082C>A (p.Pro361His) c.1247C>A (p.Pro416His) c.747C>A (n.747C>A) c.914C>A (p.Pro305His) c.1373C>A (p.Pro458His) c.1265C>A (p.Pro422His) c.1418C>A (p.Pro473His) c.1370C>A (p.Pro457His) c.1253C>A (p.Pro418His) c.1235C>A (p.Pro412His)	dbSNP
3	g.69965088C>G	CA353559809	MITF	c.1355C>G (p.Pro452Arg) c.1352C>G (p.Pro451Arg) n.1577C>G c.1328C>G (p.Pro443Arg) c.166C>G (n.166C>G) c.1421C>G (p.Pro474Arg) c.1100C>G (p.Pro367Arg) c.1400C>G (p.Pro467Arg) c.1403C>G (p.Pro468Arg) c.1082C>G (p.Pro361Arg) c.1247C>G (p.Pro416Arg) c.747C>G (n.747C>G) c.914C>G (p.Pro305Arg) c.1373C>G (p.Pro458Arg) c.1265C>G (p.Pro422Arg) c.1418C>G (p.Pro473Arg) c.1370C>G (p.Pro457Arg) c.1253C>G (p.Pro418Arg) c.1235C>G (p.Pro412Arg)
3	g.69965088C>T	CA353559810	MITF	c.1355C>T (p.Pro452Leu) c.1352C>T (p.Pro451Leu) n.1577C>T c.1328C>T (p.Pro443Leu) c.166C>T (n.166C>T) c.1421C>T (p.Pro474Leu) c.1100C>T (p.Pro367Leu) c.1400C>T (p.Pro467Leu) c.1403C>T (p.Pro468Leu) c.1082C>T (p.Pro361Leu) c.1247C>T (p.Pro416Leu) c.747C>T (n.747C>T) c.914C>T (p.Pro305Leu) c.1373C>T (p.Pro458Leu) c.1265C>T (p.Pro422Leu) c.1418C>T (p.Pro473Leu) c.1370C>T (p.Pro457Leu) c.1253C>T (p.Pro418Leu) c.1235C>T (p.Pro412Leu)	dbSNP
3	g.69965089C>A	CA434433783	MITF	c.1356C>A (p.Pro452=) c.1353C>A (p.Pro451=) n.1578C>A c.1329C>A (p.Pro443=) c.167C>A (n.167C>A) c.1422C>A (p.Pro474=) c.1101C>A (p.Pro367=) c.1401C>A (p.Pro467=) c.1404C>A (p.Pro468=) c.1083C>A (p.Pro361=) c.1248C>A (p.Pro416=) c.748C>A (n.748C>A) c.915C>A (p.Pro305=) c.1374C>A (p.Pro458=) c.1266C>A (p.Pro422=) c.1419C>A (p.Pro473=) c.1371C>A (p.Pro457=) c.1254C>A (p.Pro418=) c.1236C>A (p.Pro412=)
3	g.69965089C>G	CA434433784	MITF	c.1356C>G (p.Pro452=) c.1353C>G (p.Pro451=) n.1578C>G c.1329C>G (p.Pro443=) c.167C>G (n.167C>G) c.1422C>G (p.Pro474=) c.1101C>G (p.Pro367=) c.1401C>G (p.Pro467=) c.1404C>G (p.Pro468=) c.1083C>G (p.Pro361=) c.1248C>G (p.Pro416=) c.748C>G (n.748C>G) c.915C>G (p.Pro305=) c.1374C>G (p.Pro458=) c.1266C>G (p.Pro422=) c.1419C>G (p.Pro473=) c.1371C>G (p.Pro457=) c.1254C>G (p.Pro418=) c.1236C>G (p.Pro412=)
3	g.69965089C>T	CA434433785	MITF	c.1356C>T (p.Pro452=) c.1353C>T (p.Pro451=) n.1578C>T c.1329C>T (p.Pro443=) c.167C>T (n.167C>T) c.1422C>T (p.Pro474=) c.1101C>T (p.Pro367=) c.1401C>T (p.Pro467=) c.1404C>T (p.Pro468=) c.1083C>T (p.Pro361=) c.1248C>T (p.Pro416=) c.748C>T (n.748C>T) c.915C>T (p.Pro305=) c.1374C>T (p.Pro458=) c.1266C>T (p.Pro422=) c.1419C>T (p.Pro473=) c.1371C>T (p.Pro457=) c.1254C>T (p.Pro418=) c.1236C>T (p.Pro412=)	gnomAD v4
3	g.69965090A=	CA1373414333	MITF	c.1357A= (p.Thr453=) c.1354A= (p.Thr452=) n.1579A= c.1330A= (p.Thr444=) c.168A= (n.168A=) c.1423A= (p.Thr475=) c.1102A= (p.Thr368=) c.1402A= (p.Thr468=) c.1405A= (p.Thr469=) c.1084A= (p.Thr362=) c.1249A= (p.Thr417=) c.749A= (n.749A=) c.916A= (p.Thr306=) c.1375A= (p.Thr459=) c.1267A= (p.Thr423=) c.1420A= (p.Thr474=) c.1372A= (p.Thr458=) c.1255A= (p.Thr419=) c.1237A= (p.Thr413=)
3	g.69965090A>C	CA353559811	MITF	c.1357A>C (p.Thr453Pro) c.1354A>C (p.Thr452Pro) n.1579A>C c.1330A>C (p.Thr444Pro) c.168A>C (n.168A>C) c.1423A>C (p.Thr475Pro) c.1102A>C (p.Thr368Pro) c.1402A>C (p.Thr468Pro) c.1405A>C (p.Thr469Pro) c.1084A>C (p.Thr362Pro) c.1249A>C (p.Thr417Pro) c.749A>C (n.749A>C) c.916A>C (p.Thr306Pro) c.1375A>C (p.Thr459Pro) c.1267A>C (p.Thr423Pro) c.1420A>C (p.Thr474Pro) c.1372A>C (p.Thr458Pro) c.1255A>C (p.Thr419Pro) c.1237A>C (p.Thr413Pro)	dbSNP
3	g.69965090A>G	CA353559813	MITF	c.1357A>G (p.Thr453Ala) c.1354A>G (p.Thr452Ala) n.1579A>G c.1330A>G (p.Thr444Ala) c.168A>G (n.168A>G) c.1423A>G (p.Thr475Ala) c.1102A>G (p.Thr368Ala) c.1402A>G (p.Thr468Ala) c.1405A>G (p.Thr469Ala) c.1084A>G (p.Thr362Ala) c.1249A>G (p.Thr417Ala) c.749A>G (n.749A>G) c.916A>G (p.Thr306Ala) c.1375A>G (p.Thr459Ala) c.1267A>G (p.Thr423Ala) c.1420A>G (p.Thr474Ala) c.1372A>G (p.Thr458Ala) c.1255A>G (p.Thr419Ala) c.1237A>G (p.Thr413Ala)	dbSNP gnomAD v2 gnomAD v4
3	g.69965090A>T	CA353559812	MITF	c.1357A>T (p.Thr453Ser) c.1354A>T (p.Thr452Ser) n.1579A>T c.1330A>T (p.Thr444Ser) c.168A>T (n.168A>T) c.1423A>T (p.Thr475Ser) c.1102A>T (p.Thr368Ser) c.1402A>T (p.Thr468Ser) c.1405A>T (p.Thr469Ser) c.1084A>T (p.Thr362Ser) c.1249A>T (p.Thr417Ser) c.749A>T (n.749A>T) c.916A>T (p.Thr306Ser) c.1375A>T (p.Thr459Ser) c.1267A>T (p.Thr423Ser) c.1420A>T (p.Thr474Ser) c.1372A>T (p.Thr458Ser) c.1255A>T (p.Thr419Ser) c.1237A>T (p.Thr413Ser)
3	g.69965091C>A	CA353559814	MITF	c.1358C>A (p.Thr453Lys) c.1355C>A (p.Thr452Lys) n.1580C>A c.1331C>A (p.Thr444Lys) c.169C>A (n.169C>A) c.1424C>A (p.Thr475Lys) c.1103C>A (p.Thr368Lys) c.1403C>A (p.Thr468Lys) c.1406C>A (p.Thr469Lys) c.1085C>A (p.Thr362Lys) c.1250C>A (p.Thr417Lys) c.750C>A (n.750C>A) c.917C>A (p.Thr306Lys) c.1376C>A (p.Thr459Lys) c.1268C>A (p.Thr423Lys) c.1421C>A (p.Thr474Lys) c.1373C>A (p.Thr458Lys) c.1256C>A (p.Thr419Lys) c.1238C>A (p.Thr413Lys)	gnomAD v4
3	g.69965091C>G	CA353559815	MITF	c.1358C>G (p.Thr453Arg) c.1355C>G (p.Thr452Arg) n.1580C>G c.1331C>G (p.Thr444Arg) c.169C>G (n.169C>G) c.1424C>G (p.Thr475Arg) c.1103C>G (p.Thr368Arg) c.1403C>G (p.Thr468Arg) c.1406C>G (p.Thr469Arg) c.1085C>G (p.Thr362Arg) c.1250C>G (p.Thr417Arg) c.750C>G (n.750C>G) c.917C>G (p.Thr306Arg) c.1376C>G (p.Thr459Arg) c.1268C>G (p.Thr423Arg) c.1421C>G (p.Thr474Arg) c.1373C>G (p.Thr458Arg) c.1256C>G (p.Thr419Arg) c.1238C>G (p.Thr413Arg)
3	g.69965091C>T	CA353559816	MITF	c.1358C>T (p.Thr453Ile) c.1355C>T (p.Thr452Ile) n.1580C>T c.1331C>T (p.Thr444Ile) c.169C>T (n.169C>T) c.1424C>T (p.Thr475Ile) c.1103C>T (p.Thr368Ile) c.1403C>T (p.Thr468Ile) c.1406C>T (p.Thr469Ile) c.1085C>T (p.Thr362Ile) c.1250C>T (p.Thr417Ile) c.750C>T (n.750C>T) c.917C>T (p.Thr306Ile) c.1376C>T (p.Thr459Ile) c.1268C>T (p.Thr423Ile) c.1421C>T (p.Thr474Ile) c.1373C>T (p.Thr458Ile) c.1256C>T (p.Thr419Ile) c.1238C>T (p.Thr413Ile)	gnomAD v4
3	g.69965092A>C	CA434433786	MITF	c.1359A>C (p.Thr453=) c.1356A>C (p.Thr452=) n.1581A>C c.1332A>C (p.Thr444=) c.170A>C (n.170A>C) c.1425A>C (p.Thr475=) c.1104A>C (p.Thr368=) c.1404A>C (p.Thr468=) c.1407A>C (p.Thr469=) c.1086A>C (p.Thr362=) c.1251A>C (p.Thr417=) c.751A>C (n.751A>C) c.918A>C (p.Thr306=) c.1377A>C (p.Thr459=) c.1269A>C (p.Thr423=) c.1422A>C (p.Thr474=) c.1374A>C (p.Thr458=) c.1257A>C (p.Thr419=) c.1239A>C (p.Thr413=)
3	g.69965092A>G	CA434433787	MITF	c.1359A>G (p.Thr453=) c.1356A>G (p.Thr452=) n.1581A>G c.1332A>G (p.Thr444=) c.170A>G (n.170A>G) c.1425A>G (p.Thr475=) c.1104A>G (p.Thr368=) c.1404A>G (p.Thr468=) c.1407A>G (p.Thr469=) c.1086A>G (p.Thr362=) c.1251A>G (p.Thr417=) c.751A>G (n.751A>G) c.918A>G (p.Thr306=) c.1377A>G (p.Thr459=) c.1269A>G (p.Thr423=) c.1422A>G (p.Thr474=) c.1374A>G (p.Thr458=) c.1257A>G (p.Thr419=) c.1239A>G (p.Thr413=)	ClinVar gnomAD v4
3	g.69965092A>T	CA434433788	MITF	c.1359A>T (p.Thr453=) c.1356A>T (p.Thr452=) n.1581A>T c.1332A>T (p.Thr444=) c.170A>T (n.170A>T) c.1425A>T (p.Thr475=) c.1104A>T (p.Thr368=) c.1404A>T (p.Thr468=) c.1407A>T (p.Thr469=) c.1086A>T (p.Thr362=) c.1251A>T (p.Thr417=) c.751A>T (n.751A>T) c.918A>T (p.Thr306=) c.1377A>T (p.Thr459=) c.1269A>T (p.Thr423=) c.1422A>T (p.Thr474=) c.1374A>T (p.Thr458=) c.1257A>T (p.Thr419=) c.1239A>T (p.Thr413=)	dbSNP
3	g.69965096dup	CA434433789	MITF	c.1363dup (p.Met455AsnfsTer21) c.1360dup (p.Met454AsnfsTer21) n.1585dup c.1336dup (p.Met446AsnfsTer21) c.174dup (n.174dup) c.1429dup (p.Met477AsnfsTer21) c.1108dup (p.Met370AsnfsTer21) c.1408dup (p.Met470AsnfsTer21) c.1411dup (p.Met471AsnfsTer21) c.1090dup (p.Met364AsnfsTer21) c.1255dup (p.Met419AsnfsTer21) c.755dup (n.755dup) c.922dup (p.Met308AsnfsTer21) c.1381dup (p.Met461AsnfsTer21) c.1273dup (p.Met425AsnfsTer21) c.1426dup (p.Met476AsnfsTer21) c.1378dup (p.Met460AsnfsTer21) c.1261dup (p.Met421AsnfsTer21) c.1243dup (p.Met415AsnfsTer21)	COSMIC COSMIC
3	g.69965093A=	CA1373414335	MITF	c.1360A= (p.Lys454=) c.1357A= (p.Lys453=) n.1582A= c.1333A= (p.Lys445=) c.171A= (n.171A=) c.1426A= (p.Lys476=) c.1105A= (p.Lys369=) c.1405A= (p.Lys469=) c.1408A= (p.Lys470=) c.1087A= (p.Lys363=) c.1252A= (p.Lys418=) c.752A= (n.752A=) c.919A= (p.Lys307=) c.1378A= (p.Lys460=) c.1270A= (p.Lys424=) c.1423A= (p.Lys475=) c.1375A= (p.Lys459=) c.1258A= (p.Lys420=) c.1240A= (p.Lys414=)
3	g.69965093A>C	CA353559817	MITF	c.1360A>C (p.Lys454Gln) c.1357A>C (p.Lys453Gln) n.1582A>C c.1333A>C (p.Lys445Gln) c.171A>C (n.171A>C) c.1426A>C (p.Lys476Gln) c.1105A>C (p.Lys369Gln) c.1405A>C (p.Lys469Gln) c.1408A>C (p.Lys470Gln) c.1087A>C (p.Lys363Gln) c.1252A>C (p.Lys418Gln) c.752A>C (n.752A>C) c.919A>C (p.Lys307Gln) c.1378A>C (p.Lys460Gln) c.1270A>C (p.Lys424Gln) c.1423A>C (p.Lys475Gln) c.1375A>C (p.Lys459Gln) c.1258A>C (p.Lys420Gln) c.1240A>C (p.Lys414Gln)
3	g.69965093A>G	CA353559818	MITF	c.1360A>G (p.Lys454Glu) c.1357A>G (p.Lys453Glu) n.1582A>G c.1333A>G (p.Lys445Glu) c.171A>G (n.171A>G) c.1426A>G (p.Lys476Glu) c.1105A>G (p.Lys369Glu) c.1405A>G (p.Lys469Glu) c.1408A>G (p.Lys470Glu) c.1087A>G (p.Lys363Glu) c.1252A>G (p.Lys418Glu) c.752A>G (n.752A>G) c.919A>G (p.Lys307Glu) c.1378A>G (p.Lys460Glu) c.1270A>G (p.Lys424Glu) c.1423A>G (p.Lys475Glu) c.1375A>G (p.Lys459Glu) c.1258A>G (p.Lys420Glu) c.1240A>G (p.Lys414Glu)	dbSNP gnomAD v2 gnomAD v4
3	g.69965093A>T	CA353559819	MITF	c.1360A>T (p.Lys454Ter) c.1357A>T (p.Lys453Ter) n.1582A>T c.1333A>T (p.Lys445Ter) c.171A>T (n.171A>T) c.1426A>T (p.Lys476Ter) c.1105A>T (p.Lys369Ter) c.1405A>T (p.Lys469Ter) c.1408A>T (p.Lys470Ter) c.1087A>T (p.Lys363Ter) c.1252A>T (p.Lys418Ter) c.752A>T (n.752A>T) c.919A>T (p.Lys307Ter) c.1378A>T (p.Lys460Ter) c.1270A>T (p.Lys424Ter) c.1423A>T (p.Lys475Ter) c.1375A>T (p.Lys459Ter) c.1258A>T (p.Lys420Ter) c.1240A>T (p.Lys414Ter)
3	g.69965094A>C	CA353559820	MITF	c.1361A>C (p.Lys454Thr) c.1358A>C (p.Lys453Thr) n.1583A>C c.1334A>C (p.Lys445Thr) c.172A>C (n.172A>C) c.1427A>C (p.Lys476Thr) c.1106A>C (p.Lys369Thr) c.1406A>C (p.Lys469Thr) c.1409A>C (p.Lys470Thr) c.1088A>C (p.Lys363Thr) c.1253A>C (p.Lys418Thr) c.753A>C (n.753A>C) c.920A>C (p.Lys307Thr) c.1379A>C (p.Lys460Thr) c.1271A>C (p.Lys424Thr) c.1424A>C (p.Lys475Thr) c.1376A>C (p.Lys459Thr) c.1259A>C (p.Lys420Thr) c.1241A>C (p.Lys414Thr)
3	g.69965094A>G	CA353559821	MITF	c.1361A>G (p.Lys454Arg) c.1358A>G (p.Lys453Arg) n.1583A>G c.1334A>G (p.Lys445Arg) c.172A>G (n.172A>G) c.1427A>G (p.Lys476Arg) c.1106A>G (p.Lys369Arg) c.1406A>G (p.Lys469Arg) c.1409A>G (p.Lys470Arg) c.1088A>G (p.Lys363Arg) c.1253A>G (p.Lys418Arg) c.753A>G (n.753A>G) c.920A>G (p.Lys307Arg) c.1379A>G (p.Lys460Arg) c.1271A>G (p.Lys424Arg) c.1424A>G (p.Lys475Arg) c.1376A>G (p.Lys459Arg) c.1259A>G (p.Lys420Arg) c.1241A>G (p.Lys414Arg)
3	g.69965094A>T	CA353559822	MITF	c.1361A>T (p.Lys454Ile) c.1358A>T (p.Lys453Ile) n.1583A>T c.1334A>T (p.Lys445Ile) c.172A>T (n.172A>T) c.1427A>T (p.Lys476Ile) c.1106A>T (p.Lys369Ile) c.1406A>T (p.Lys469Ile) c.1409A>T (p.Lys470Ile) c.1088A>T (p.Lys363Ile) c.1253A>T (p.Lys418Ile) c.753A>T (n.753A>T) c.920A>T (p.Lys307Ile) c.1379A>T (p.Lys460Ile) c.1271A>T (p.Lys424Ile) c.1424A>T (p.Lys475Ile) c.1376A>T (p.Lys459Ile) c.1259A>T (p.Lys420Ile) c.1241A>T (p.Lys414Ile)
3	g.69965095A>C	CA353559823	MITF	c.1362A>C (p.Lys454Asn) c.1359A>C (p.Lys453Asn) n.1584A>C c.1335A>C (p.Lys445Asn) c.173A>C (n.173A>C) c.1428A>C (p.Lys476Asn) c.1107A>C (p.Lys369Asn) c.1407A>C (p.Lys469Asn) c.1410A>C (p.Lys470Asn) c.1089A>C (p.Lys363Asn) c.1254A>C (p.Lys418Asn) c.754A>C (n.754A>C) c.921A>C (p.Lys307Asn) c.1380A>C (p.Lys460Asn) c.1272A>C (p.Lys424Asn) c.1425A>C (p.Lys475Asn) c.1377A>C (p.Lys459Asn) c.1260A>C (p.Lys420Asn) c.1242A>C (p.Lys414Asn)
3	g.69965095A>G	CA434433790	MITF	c.1362A>G (p.Lys454=) c.1359A>G (p.Lys453=) n.1584A>G c.1335A>G (p.Lys445=) c.173A>G (n.173A>G) c.1428A>G (p.Lys476=) c.1107A>G (p.Lys369=) c.1407A>G (p.Lys469=) c.1410A>G (p.Lys470=) c.1089A>G (p.Lys363=) c.1254A>G (p.Lys418=) c.754A>G (n.754A>G) c.921A>G (p.Lys307=) c.1380A>G (p.Lys460=) c.1272A>G (p.Lys424=) c.1425A>G (p.Lys475=) c.1377A>G (p.Lys459=) c.1260A>G (p.Lys420=) c.1242A>G (p.Lys414=)	gnomAD v4
3	g.69965095A>T	CA353559824	MITF	c.1362A>T (p.Lys454Asn) c.1359A>T (p.Lys453Asn) n.1584A>T c.1335A>T (p.Lys445Asn) c.173A>T (n.173A>T) c.1428A>T (p.Lys476Asn) c.1107A>T (p.Lys369Asn) c.1407A>T (p.Lys469Asn) c.1410A>T (p.Lys470Asn) c.1089A>T (p.Lys363Asn) c.1254A>T (p.Lys418Asn) c.754A>T (n.754A>T) c.921A>T (p.Lys307Asn) c.1380A>T (p.Lys460Asn) c.1272A>T (p.Lys424Asn) c.1425A>T (p.Lys475Asn) c.1377A>T (p.Lys459Asn) c.1260A>T (p.Lys420Asn) c.1242A>T (p.Lys414Asn)
3	g.69965096A>C	CA353559826	MITF	c.1363A>C (p.Met455Leu) c.1360A>C (p.Met454Leu) n.1585A>C c.1336A>C (p.Met446Leu) c.174A>C (n.174A>C) c.1429A>C (p.Met477Leu) c.1108A>C (p.Met370Leu) c.1408A>C (p.Met470Leu) c.1411A>C (p.Met471Leu) c.1090A>C (p.Met364Leu) c.1255A>C (p.Met419Leu) c.755A>C (n.755A>C) c.922A>C (p.Met308Leu) c.1381A>C (p.Met461Leu) c.1273A>C (p.Met425Leu) c.1426A>C (p.Met476Leu) c.1378A>C (p.Met460Leu) c.1261A>C (p.Met421Leu) c.1243A>C (p.Met415Leu)
3	g.69965096A>G	CA353559827	MITF	c.1363A>G (p.Met455Val) c.1360A>G (p.Met454Val) n.1585A>G c.1336A>G (p.Met446Val) c.174A>G (n.174A>G) c.1429A>G (p.Met477Val) c.1108A>G (p.Met370Val) c.1408A>G (p.Met470Val) c.1411A>G (p.Met471Val) c.1090A>G (p.Met364Val) c.1255A>G (p.Met419Val) c.755A>G (n.755A>G) c.922A>G (p.Met308Val) c.1381A>G (p.Met461Val) c.1273A>G (p.Met425Val) c.1426A>G (p.Met476Val) c.1378A>G (p.Met460Val) c.1261A>G (p.Met421Val) c.1243A>G (p.Met415Val)
3	g.69965096A>T	CA353559825	MITF	c.1363A>T (p.Met455Leu) c.1360A>T (p.Met454Leu) n.1585A>T c.1336A>T (p.Met446Leu) c.174A>T (n.174A>T) c.1429A>T (p.Met477Leu) c.1108A>T (p.Met370Leu) c.1408A>T (p.Met470Leu) c.1411A>T (p.Met471Leu) c.1090A>T (p.Met364Leu) c.1255A>T (p.Met419Leu) c.755A>T (n.755A>T) c.922A>T (p.Met308Leu) c.1381A>T (p.Met461Leu) c.1273A>T (p.Met425Leu) c.1426A>T (p.Met476Leu) c.1378A>T (p.Met460Leu) c.1261A>T (p.Met421Leu) c.1243A>T (p.Met415Leu)
3	g.69965097T>A	CA353559830	MITF	c.1364T>A (p.Met455Lys) c.1361T>A (p.Met454Lys) n.1586T>A c.1337T>A (p.Met446Lys) c.175T>A (n.175T>A) c.1430T>A (p.Met477Lys) c.1109T>A (p.Met370Lys) c.1409T>A (p.Met470Lys) c.1412T>A (p.Met471Lys) c.1091T>A (p.Met364Lys) c.1256T>A (p.Met419Lys) c.756T>A (n.756T>A) c.923T>A (p.Met308Lys) c.1382T>A (p.Met461Lys) c.1274T>A (p.Met425Lys) c.1427T>A (p.Met476Lys) c.1379T>A (p.Met460Lys) c.1262T>A (p.Met421Lys) c.1244T>A (p.Met415Lys)
3	g.69965097T>C	CA353559828	MITF	c.1364T>C (p.Met455Thr) c.1361T>C (p.Met454Thr) n.1586T>C c.1337T>C (p.Met446Thr) c.175T>C (n.175T>C) c.1430T>C (p.Met477Thr) c.1109T>C (p.Met370Thr) c.1409T>C (p.Met470Thr) c.1412T>C (p.Met471Thr) c.1091T>C (p.Met364Thr) c.1256T>C (p.Met419Thr) c.756T>C (n.756T>C) c.923T>C (p.Met308Thr) c.1382T>C (p.Met461Thr) c.1274T>C (p.Met425Thr) c.1427T>C (p.Met476Thr) c.1379T>C (p.Met460Thr) c.1262T>C (p.Met421Thr) c.1244T>C (p.Met415Thr)
3	g.69965097T>G	CA353559829	MITF	c.1364T>G (p.Met455Arg) c.1361T>G (p.Met454Arg) n.1586T>G c.1337T>G (p.Met446Arg) c.175T>G (n.175T>G) c.1430T>G (p.Met477Arg) c.1109T>G (p.Met370Arg) c.1409T>G (p.Met470Arg) c.1412T>G (p.Met471Arg) c.1091T>G (p.Met364Arg) c.1256T>G (p.Met419Arg) c.756T>G (n.756T>G) c.923T>G (p.Met308Arg) c.1382T>G (p.Met461Arg) c.1274T>G (p.Met425Arg) c.1427T>G (p.Met476Arg) c.1379T>G (p.Met460Arg) c.1262T>G (p.Met421Arg) c.1244T>G (p.Met415Arg)
3	g.69965098G>A	CA353559831	MITF	c.1365G>A (p.Met455Ile) c.1362G>A (p.Met454Ile) n.1587G>A c.1338G>A (p.Met446Ile) c.176G>A (n.176G>A) c.1431G>A (p.Met477Ile) c.1110G>A (p.Met370Ile) c.1410G>A (p.Met470Ile) c.1413G>A (p.Met471Ile) c.1092G>A (p.Met364Ile) c.1257G>A (p.Met419Ile) c.757G>A (n.757G>A) c.924G>A (p.Met308Ile) c.1383G>A (p.Met461Ile) c.1275G>A (p.Met425Ile) c.1428G>A (p.Met476Ile) c.1380G>A (p.Met460Ile) c.1263G>A (p.Met421Ile) c.1245G>A (p.Met415Ile)	dbSNP gnomAD v2 gnomAD v4
3	g.69965098G>C	CA353559832	MITF	c.1365G>C (p.Met455Ile) c.1362G>C (p.Met454Ile) n.1587G>C c.1338G>C (p.Met446Ile) c.176G>C (n.176G>C) c.1431G>C (p.Met477Ile) c.1110G>C (p.Met370Ile) c.1410G>C (p.Met470Ile) c.1413G>C (p.Met471Ile) c.1092G>C (p.Met364Ile) c.1257G>C (p.Met419Ile) c.757G>C (n.757G>C) c.924G>C (p.Met308Ile) c.1383G>C (p.Met461Ile) c.1275G>C (p.Met425Ile) c.1428G>C (p.Met476Ile) c.1380G>C (p.Met460Ile) c.1263G>C (p.Met421Ile) c.1245G>C (p.Met415Ile)
3	g.69965098G=	CA1373414338	MITF	c.1365G= (p.Met455=) c.1362G= (p.Met454=) n.1587G= c.1338G= (p.Met446=) c.176G= (n.176G=) c.1431G= (p.Met477=) c.1110G= (p.Met370=) c.1410G= (p.Met470=) c.1413G= (p.Met471=) c.1092G= (p.Met364=) c.1257G= (p.Met419=) c.757G= (n.757G=) c.924G= (p.Met308=) c.1383G= (p.Met461=) c.1275G= (p.Met425=) c.1428G= (p.Met476=) c.1380G= (p.Met460=) c.1263G= (p.Met421=) c.1245G= (p.Met415=)
3	g.69965098G>T	CA353559833	MITF	c.1365G>T (p.Met455Ile) c.1362G>T (p.Met454Ile) n.1587G>T c.1338G>T (p.Met446Ile) c.176G>T (n.176G>T) c.1431G>T (p.Met477Ile) c.1110G>T (p.Met370Ile) c.1410G>T (p.Met470Ile) c.1413G>T (p.Met471Ile) c.1092G>T (p.Met364Ile) c.1257G>T (p.Met419Ile) c.757G>T (n.757G>T) c.924G>T (p.Met308Ile) c.1383G>T (p.Met461Ile) c.1275G>T (p.Met425Ile) c.1428G>T (p.Met476Ile) c.1380G>T (p.Met460Ile) c.1263G>T (p.Met421Ile) c.1245G>T (p.Met415Ile)
3	g.69965099G>A	CA353559834	MITF	c.1366G>A (p.Gly456Arg) c.1363G>A (p.Gly455Arg) n.1588G>A c.1339G>A (p.Gly447Arg) c.177G>A (n.177G>A) c.1432G>A (p.Gly478Arg) c.1111G>A (p.Gly371Arg) c.1411G>A (p.Gly471Arg) c.1414G>A (p.Gly472Arg) c.1093G>A (p.Gly365Arg) c.1258G>A (p.Gly420Arg) c.758G>A (n.758G>A) c.925G>A (p.Gly309Arg) c.1384G>A (p.Gly462Arg) c.1276G>A (p.Gly426Arg) c.1429G>A (p.Gly477Arg) c.1381G>A (p.Gly461Arg) c.1264G>A (p.Gly422Arg) c.1246G>A (p.Gly416Arg)	gnomAD v4
3	g.69965099G>C	CA353559835	MITF	c.1366G>C (p.Gly456Arg) c.1363G>C (p.Gly455Arg) n.1588G>C c.1339G>C (p.Gly447Arg) c.177G>C (n.177G>C) c.1432G>C (p.Gly478Arg) c.1111G>C (p.Gly371Arg) c.1411G>C (p.Gly471Arg) c.1414G>C (p.Gly472Arg) c.1093G>C (p.Gly365Arg) c.1258G>C (p.Gly420Arg) c.758G>C (n.758G>C) c.925G>C (p.Gly309Arg) c.1384G>C (p.Gly462Arg) c.1276G>C (p.Gly426Arg) c.1429G>C (p.Gly477Arg) c.1381G>C (p.Gly461Arg) c.1264G>C (p.Gly422Arg) c.1246G>C (p.Gly416Arg)	dbSNP gnomAD v2
3	g.69965099G=	CA1373414340	MITF	c.1366G= (p.Gly456=) c.1363G= (p.Gly455=) n.1588G= c.1339G= (p.Gly447=) c.177G= (n.177G=) c.1432G= (p.Gly478=) c.1111G= (p.Gly371=) c.1411G= (p.Gly471=) c.1414G= (p.Gly472=) c.1093G= (p.Gly365=) c.1258G= (p.Gly420=) c.758G= (n.758G=) c.925G= (p.Gly309=) c.1384G= (p.Gly462=) c.1276G= (p.Gly426=) c.1429G= (p.Gly477=) c.1381G= (p.Gly461=) c.1264G= (p.Gly422=) c.1246G= (p.Gly416=)
3	g.69965099G>T	CA353559836	MITF	c.1366G>T (p.Gly456Ter) c.1363G>T (p.Gly455Ter) n.1588G>T c.1339G>T (p.Gly447Ter) c.177G>T (n.177G>T) c.1432G>T (p.Gly478Ter) c.1111G>T (p.Gly371Ter) c.1411G>T (p.Gly471Ter) c.1414G>T (p.Gly472Ter) c.1093G>T (p.Gly365Ter) c.1258G>T (p.Gly420Ter) c.758G>T (n.758G>T) c.925G>T (p.Gly309Ter) c.1384G>T (p.Gly462Ter) c.1276G>T (p.Gly426Ter) c.1429G>T (p.Gly477Ter) c.1381G>T (p.Gly461Ter) c.1264G>T (p.Gly422Ter) c.1246G>T (p.Gly416Ter)
3	g.69965100G>A	CA2490667	MITF	c.1367G>A (p.Gly456Glu) c.1364G>A (p.Gly455Glu) n.1589G>A c.1340G>A (p.Gly447Glu) c.178G>A (n.178G>A) c.1433G>A (p.Gly478Glu) c.1112G>A (p.Gly371Glu) c.1412G>A (p.Gly471Glu) c.1415G>A (p.Gly472Glu) c.1094G>A (p.Gly365Glu) c.1259G>A (p.Gly420Glu) c.759G>A (n.759G>A) c.926G>A (p.Gly309Glu) c.1385G>A (p.Gly462Glu) c.1277G>A (p.Gly426Glu) c.1430G>A (p.Gly477Glu) c.1382G>A (p.Gly461Glu) c.1265G>A (p.Gly422Glu) c.1247G>A (p.Gly416Glu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3	g.69965100G>C	CA2490668	MITF	c.1367G>C (p.Gly456Ala) c.1364G>C (p.Gly455Ala) n.1589G>C c.1340G>C (p.Gly447Ala) c.178G>C (n.178G>C) c.1433G>C (p.Gly478Ala) c.1112G>C (p.Gly371Ala) c.1412G>C (p.Gly471Ala) c.1415G>C (p.Gly472Ala) c.1094G>C (p.Gly365Ala) c.1259G>C (p.Gly420Ala) c.759G>C (n.759G>C) c.926G>C (p.Gly309Ala) c.1385G>C (p.Gly462Ala) c.1277G>C (p.Gly426Ala) c.1430G>C (p.Gly477Ala) c.1382G>C (p.Gly461Ala) c.1265G>C (p.Gly422Ala) c.1247G>C (p.Gly416Ala)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.69965100G=	CA1373414343	MITF	c.1367G= (p.Gly456=) c.1364G= (p.Gly455=) n.1589G= c.1340G= (p.Gly447=) c.178G= (n.178G=) c.1433G= (p.Gly478=) c.1112G= (p.Gly371=) c.1412G= (p.Gly471=) c.1415G= (p.Gly472=) c.1094G= (p.Gly365=) c.1259G= (p.Gly420=) c.759G= (n.759G=) c.926G= (p.Gly309=) c.1385G= (p.Gly462=) c.1277G= (p.Gly426=) c.1430G= (p.Gly477=) c.1382G= (p.Gly461=) c.1265G= (p.Gly422=) c.1247G= (p.Gly416=)
3	g.69965100G>T	CA353559837	MITF	c.1367G>T (p.Gly456Val) c.1364G>T (p.Gly455Val) n.1589G>T c.1340G>T (p.Gly447Val) c.178G>T (n.178G>T) c.1433G>T (p.Gly478Val) c.1112G>T (p.Gly371Val) c.1412G>T (p.Gly471Val) c.1415G>T (p.Gly472Val) c.1094G>T (p.Gly365Val) c.1259G>T (p.Gly420Val) c.759G>T (n.759G>T) c.926G>T (p.Gly309Val) c.1385G>T (p.Gly462Val) c.1277G>T (p.Gly426Val) c.1430G>T (p.Gly477Val) c.1382G>T (p.Gly461Val) c.1265G>T (p.Gly422Val) c.1247G>T (p.Gly416Val)	gnomAD v4
3	g.69965101A>C	CA434433791	MITF	c.1368A>C (p.Gly456=) c.1365A>C (p.Gly455=) n.1590A>C c.1341A>C (p.Gly447=) c.179A>C (n.179A>C) c.1434A>C (p.Gly478=) c.1113A>C (p.Gly371=) c.1413A>C (p.Gly471=) c.1416A>C (p.Gly472=) c.1095A>C (p.Gly365=) c.1260A>C (p.Gly420=) c.760A>C (n.760A>C) c.927A>C (p.Gly309=) c.1386A>C (p.Gly462=) c.1278A>C (p.Gly426=) c.1431A>C (p.Gly477=) c.1383A>C (p.Gly461=) c.1266A>C (p.Gly422=) c.1248A>C (p.Gly416=)
3	g.69965101A>G	CA434433793	MITF	c.1368A>G (p.Gly456=) c.1365A>G (p.Gly455=) n.1590A>G c.1341A>G (p.Gly447=) c.179A>G (n.179A>G) c.1434A>G (p.Gly478=) c.1113A>G (p.Gly371=) c.1413A>G (p.Gly471=) c.1416A>G (p.Gly472=) c.1095A>G (p.Gly365=) c.1260A>G (p.Gly420=) c.760A>G (n.760A>G) c.927A>G (p.Gly309=) c.1386A>G (p.Gly462=) c.1278A>G (p.Gly426=) c.1431A>G (p.Gly477=) c.1383A>G (p.Gly461=) c.1266A>G (p.Gly422=) c.1248A>G (p.Gly416=)	gnomAD v4
3	g.69965101A>T	CA434433792	MITF	c.1368A>T (p.Gly456=) c.1365A>T (p.Gly455=) n.1590A>T c.1341A>T (p.Gly447=) c.179A>T (n.179A>T) c.1434A>T (p.Gly478=) c.1113A>T (p.Gly371=) c.1413A>T (p.Gly471=) c.1416A>T (p.Gly472=) c.1095A>T (p.Gly365=) c.1260A>T (p.Gly420=) c.760A>T (n.760A>T) c.927A>T (p.Gly309=) c.1386A>T (p.Gly462=) c.1278A>T (p.Gly426=) c.1431A>T (p.Gly477=) c.1383A>T (p.Gly461=) c.1266A>T (p.Gly422=) c.1248A>T (p.Gly416=)
3	g.69965102T>A	CA353559840	MITF	c.1369T>A (p.Ser457Thr) c.1366T>A (p.Ser456Thr) n.1591T>A c.1342T>A (p.Ser448Thr) c.180T>A (n.180T>A) c.1435T>A (p.Ser479Thr) c.1114T>A (p.Ser372Thr) c.1414T>A (p.Ser472Thr) c.1417T>A (p.Ser473Thr) c.1096T>A (p.Ser366Thr) c.1261T>A (p.Ser421Thr) c.761T>A (n.761T>A) c.928T>A (p.Ser310Thr) c.1387T>A (p.Ser463Thr) c.1279T>A (p.Ser427Thr) c.1432T>A (p.Ser478Thr) c.1384T>A (p.Ser462Thr) c.1267T>A (p.Ser423Thr) c.1249T>A (p.Ser417Thr)	gnomAD v4
3	g.69965102T>C	CA353559839	MITF	c.1369T>C (p.Ser457Pro) c.1366T>C (p.Ser456Pro) n.1591T>C c.1342T>C (p.Ser448Pro) c.180T>C (n.180T>C) c.1435T>C (p.Ser479Pro) c.1114T>C (p.Ser372Pro) c.1414T>C (p.Ser472Pro) c.1417T>C (p.Ser473Pro) c.1096T>C (p.Ser366Pro) c.1261T>C (p.Ser421Pro) c.761T>C (n.761T>C) c.928T>C (p.Ser310Pro) c.1387T>C (p.Ser463Pro) c.1279T>C (p.Ser427Pro) c.1432T>C (p.Ser478Pro) c.1384T>C (p.Ser462Pro) c.1267T>C (p.Ser423Pro) c.1249T>C (p.Ser417Pro)
3	g.69965102T>G	CA353559838	MITF	c.1369T>G (p.Ser457Ala) c.1366T>G (p.Ser456Ala) n.1591T>G c.1342T>G (p.Ser448Ala) c.180T>G (n.180T>G) c.1435T>G (p.Ser479Ala) c.1114T>G (p.Ser372Ala) c.1414T>G (p.Ser472Ala) c.1417T>G (p.Ser473Ala) c.1096T>G (p.Ser366Ala) c.1261T>G (p.Ser421Ala) c.761T>G (n.761T>G) c.928T>G (p.Ser310Ala) c.1387T>G (p.Ser463Ala) c.1279T>G (p.Ser427Ala) c.1432T>G (p.Ser478Ala) c.1384T>G (p.Ser462Ala) c.1267T>G (p.Ser423Ala) c.1249T>G (p.Ser417Ala)
3	g.69965103C>A	CA353559841	MITF	c.1370C>A (p.Ser457Tyr) c.1367C>A (p.Ser456Tyr) n.1592C>A c.1343C>A (p.Ser448Tyr) c.181C>A (n.181C>A) c.1436C>A (p.Ser479Tyr) c.1115C>A (p.Ser372Tyr) c.1415C>A (p.Ser472Tyr) c.1418C>A (p.Ser473Tyr) c.1097C>A (p.Ser366Tyr) c.1262C>A (p.Ser421Tyr) c.762C>A (n.762C>A) c.929C>A (p.Ser310Tyr) c.1388C>A (p.Ser463Tyr) c.1280C>A (p.Ser427Tyr) c.1433C>A (p.Ser478Tyr) c.1385C>A (p.Ser462Tyr) c.1268C>A (p.Ser423Tyr) c.1250C>A (p.Ser417Tyr)	dbSNP
3	g.69965103C>G	CA353559842	MITF	c.1370C>G (p.Ser457Cys) c.1367C>G (p.Ser456Cys) n.1592C>G c.1343C>G (p.Ser448Cys) c.181C>G (n.181C>G) c.1436C>G (p.Ser479Cys) c.1115C>G (p.Ser372Cys) c.1415C>G (p.Ser472Cys) c.1418C>G (p.Ser473Cys) c.1097C>G (p.Ser366Cys) c.1262C>G (p.Ser421Cys) c.762C>G (n.762C>G) c.929C>G (p.Ser310Cys) c.1388C>G (p.Ser463Cys) c.1280C>G (p.Ser427Cys) c.1433C>G (p.Ser478Cys) c.1385C>G (p.Ser462Cys) c.1268C>G (p.Ser423Cys) c.1250C>G (p.Ser417Cys)
3	g.69965103C>T	CA353559843	MITF	c.1370C>T (p.Ser457Phe) c.1367C>T (p.Ser456Phe) n.1592C>T c.1343C>T (p.Ser448Phe) c.181C>T (n.181C>T) c.1436C>T (p.Ser479Phe) c.1115C>T (p.Ser372Phe) c.1415C>T (p.Ser472Phe) c.1418C>T (p.Ser473Phe) c.1097C>T (p.Ser366Phe) c.1262C>T (p.Ser421Phe) c.762C>T (n.762C>T) c.929C>T (p.Ser310Phe) c.1388C>T (p.Ser463Phe) c.1280C>T (p.Ser427Phe) c.1433C>T (p.Ser478Phe) c.1385C>T (p.Ser462Phe) c.1268C>T (p.Ser423Phe) c.1250C>T (p.Ser417Phe)
3	g.69965104C>A	CA434433794	MITF	c.1371C>A (p.Ser457=) c.1368C>A (p.Ser456=) n.1593C>A c.1344C>A (p.Ser448=) c.182C>A (n.182C>A) c.1437C>A (p.Ser479=) c.1116C>A (p.Ser372=) c.1416C>A (p.Ser472=) c.1419C>A (p.Ser473=) c.1098C>A (p.Ser366=) c.1263C>A (p.Ser421=) c.763C>A (n.763C>A) c.930C>A (p.Ser310=) c.1389C>A (p.Ser463=) c.1281C>A (p.Ser427=) c.1434C>A (p.Ser478=) c.1386C>A (p.Ser462=) c.1269C>A (p.Ser423=) c.1251C>A (p.Ser417=)	gnomAD v4
3	g.69965104C=	CA1373414345	MITF	c.1371C= (p.Ser457=) c.1368C= (p.Ser456=) n.1593C= c.1344C= (p.Ser448=) c.182C= (n.182C=) c.1437C= (p.Ser479=) c.1116C= (p.Ser372=) c.1416C= (p.Ser472=) c.1419C= (p.Ser473=) c.1098C= (p.Ser366=) c.1263C= (p.Ser421=) c.763C= (n.763C=) c.930C= (p.Ser310=) c.1389C= (p.Ser463=) c.1281C= (p.Ser427=) c.1434C= (p.Ser478=) c.1386C= (p.Ser462=) c.1269C= (p.Ser423=) c.1251C= (p.Ser417=)
3	g.69965104C>G	CA434433795	MITF	c.1371C>G (p.Ser457=) c.1368C>G (p.Ser456=) n.1593C>G c.1344C>G (p.Ser448=) c.182C>G (n.182C>G) c.1437C>G (p.Ser479=) c.1116C>G (p.Ser372=) c.1416C>G (p.Ser472=) c.1419C>G (p.Ser473=) c.1098C>G (p.Ser366=) c.1263C>G (p.Ser421=) c.763C>G (n.763C>G) c.930C>G (p.Ser310=) c.1389C>G (p.Ser463=) c.1281C>G (p.Ser427=) c.1434C>G (p.Ser478=) c.1386C>G (p.Ser462=) c.1269C>G (p.Ser423=) c.1251C>G (p.Ser417=)
3	g.69965104C>T	CA434433796	MITF	c.1371C>T (p.Ser457=) c.1368C>T (p.Ser456=) n.1593C>T c.1344C>T (p.Ser448=) c.182C>T (n.182C>T) c.1437C>T (p.Ser479=) c.1116C>T (p.Ser372=) c.1416C>T (p.Ser472=) c.1419C>T (p.Ser473=) c.1098C>T (p.Ser366=) c.1263C>T (p.Ser421=) c.763C>T (n.763C>T) c.930C>T (p.Ser310=) c.1389C>T (p.Ser463=) c.1281C>T (p.Ser427=) c.1434C>T (p.Ser478=) c.1386C>T (p.Ser462=) c.1269C>T (p.Ser423=) c.1251C>T (p.Ser417=)	dbSNP gnomAD v3 gnomAD v4
3	g.69965105A>C	CA353559844	MITF	c.1372A>C (p.Lys458Gln) c.1369A>C (p.Lys457Gln) n.1594A>C c.1345A>C (p.Lys449Gln) c.183A>C (n.183A>C) c.1438A>C (p.Lys480Gln) c.1117A>C (p.Lys373Gln) c.1417A>C (p.Lys473Gln) c.1420A>C (p.Lys474Gln) c.1099A>C (p.Lys367Gln) c.1264A>C (p.Lys422Gln) c.764A>C (n.764A>C) c.931A>C (p.Lys311Gln) c.1390A>C (p.Lys464Gln) c.1282A>C (p.Lys428Gln) c.1435A>C (p.Lys479Gln) c.1387A>C (p.Lys463Gln) c.1270A>C (p.Lys424Gln) c.1252A>C (p.Lys418Gln)
3	g.69965105A>G	CA353559845	MITF	c.1372A>G (p.Lys458Glu) c.1369A>G (p.Lys457Glu) n.1594A>G c.1345A>G (p.Lys449Glu) c.183A>G (n.183A>G) c.1438A>G (p.Lys480Glu) c.1117A>G (p.Lys373Glu) c.1417A>G (p.Lys473Glu) c.1420A>G (p.Lys474Glu) c.1099A>G (p.Lys367Glu) c.1264A>G (p.Lys422Glu) c.764A>G (n.764A>G) c.931A>G (p.Lys311Glu) c.1390A>G (p.Lys464Glu) c.1282A>G (p.Lys428Glu) c.1435A>G (p.Lys479Glu) c.1387A>G (p.Lys463Glu) c.1270A>G (p.Lys424Glu) c.1252A>G (p.Lys418Glu)	gnomAD v4
3	g.69965105A>T	CA353559846	MITF	c.1372A>T (p.Lys458Ter) c.1369A>T (p.Lys457Ter) n.1594A>T c.1345A>T (p.Lys449Ter) c.183A>T (n.183A>T) c.1438A>T (p.Lys480Ter) c.1117A>T (p.Lys373Ter) c.1417A>T (p.Lys473Ter) c.1420A>T (p.Lys474Ter) c.1099A>T (p.Lys367Ter) c.1264A>T (p.Lys422Ter) c.764A>T (n.764A>T) c.931A>T (p.Lys311Ter) c.1390A>T (p.Lys464Ter) c.1282A>T (p.Lys428Ter) c.1435A>T (p.Lys479Ter) c.1387A>T (p.Lys463Ter) c.1270A>T (p.Lys424Ter) c.1252A>T (p.Lys418Ter)
3	g.69965106A>C	CA353559847	MITF	c.1373A>C (p.Lys458Thr) c.1370A>C (p.Lys457Thr) n.1595A>C c.1346A>C (p.Lys449Thr) c.184A>C (n.184A>C) c.1439A>C (p.Lys480Thr) c.1118A>C (p.Lys373Thr) c.1418A>C (p.Lys473Thr) c.1421A>C (p.Lys474Thr) c.1100A>C (p.Lys367Thr) c.1265A>C (p.Lys422Thr) c.765A>C (n.765A>C) c.932A>C (p.Lys311Thr) c.1391A>C (p.Lys464Thr) c.1283A>C (p.Lys428Thr) c.1436A>C (p.Lys479Thr) c.1388A>C (p.Lys463Thr) c.1271A>C (p.Lys424Thr) c.1253A>C (p.Lys418Thr)
3	g.69965106A>G	CA353559848	MITF	c.1373A>G (p.Lys458Arg) c.1370A>G (p.Lys457Arg) n.1595A>G c.1346A>G (p.Lys449Arg) c.184A>G (n.184A>G) c.1439A>G (p.Lys480Arg) c.1118A>G (p.Lys373Arg) c.1418A>G (p.Lys473Arg) c.1421A>G (p.Lys474Arg) c.1100A>G (p.Lys367Arg) c.1265A>G (p.Lys422Arg) c.765A>G (n.765A>G) c.932A>G (p.Lys311Arg) c.1391A>G (p.Lys464Arg) c.1283A>G (p.Lys428Arg) c.1436A>G (p.Lys479Arg) c.1388A>G (p.Lys463Arg) c.1271A>G (p.Lys424Arg) c.1253A>G (p.Lys418Arg)	gnomAD v4
3	g.69965106A>T	CA353559849	MITF	c.1373A>T (p.Lys458Ile) c.1370A>T (p.Lys457Ile) n.1595A>T c.1346A>T (p.Lys449Ile) c.184A>T (n.184A>T) c.1439A>T (p.Lys480Ile) c.1118A>T (p.Lys373Ile) c.1418A>T (p.Lys473Ile) c.1421A>T (p.Lys474Ile) c.1100A>T (p.Lys367Ile) c.1265A>T (p.Lys422Ile) c.765A>T (n.765A>T) c.932A>T (p.Lys311Ile) c.1391A>T (p.Lys464Ile) c.1283A>T (p.Lys428Ile) c.1436A>T (p.Lys479Ile) c.1388A>T (p.Lys463Ile) c.1271A>T (p.Lys424Ile) c.1253A>T (p.Lys418Ile)
3	g.69965107A>C	CA353559850	MITF	c.1374A>C (p.Lys458Asn) c.1371A>C (p.Lys457Asn) n.1596A>C c.1347A>C (p.Lys449Asn) c.185A>C (n.185A>C) c.1440A>C (p.Lys480Asn) c.1119A>C (p.Lys373Asn) c.1419A>C (p.Lys473Asn) c.1422A>C (p.Lys474Asn) c.1101A>C (p.Lys367Asn) c.1266A>C (p.Lys422Asn) c.766A>C (n.766A>C) c.933A>C (p.Lys311Asn) c.1392A>C (p.Lys464Asn) c.1284A>C (p.Lys428Asn) c.1437A>C (p.Lys479Asn) c.1389A>C (p.Lys463Asn) c.1272A>C (p.Lys424Asn) c.1254A>C (p.Lys418Asn)
3	g.69965107A>G	CA434433797	MITF	c.1374A>G (p.Lys458=) c.1371A>G (p.Lys457=) n.1596A>G c.1347A>G (p.Lys449=) c.185A>G (n.185A>G) c.1440A>G (p.Lys480=) c.1119A>G (p.Lys373=) c.1419A>G (p.Lys473=) c.1422A>G (p.Lys474=) c.1101A>G (p.Lys367=) c.1266A>G (p.Lys422=) c.766A>G (n.766A>G) c.933A>G (p.Lys311=) c.1392A>G (p.Lys464=) c.1284A>G (p.Lys428=) c.1437A>G (p.Lys479=) c.1389A>G (p.Lys463=) c.1272A>G (p.Lys424=) c.1254A>G (p.Lys418=)
3	g.69965107A>T	CA353559851	MITF	c.1374A>T (p.Lys458Asn) c.1371A>T (p.Lys457Asn) n.1596A>T c.1347A>T (p.Lys449Asn) c.185A>T (n.185A>T) c.1440A>T (p.Lys480Asn) c.1119A>T (p.Lys373Asn) c.1419A>T (p.Lys473Asn) c.1422A>T (p.Lys474Asn) c.1101A>T (p.Lys367Asn) c.1266A>T (p.Lys422Asn) c.766A>T (n.766A>T) c.933A>T (p.Lys311Asn) c.1392A>T (p.Lys464Asn) c.1284A>T (p.Lys428Asn) c.1437A>T (p.Lys479Asn) c.1389A>T (p.Lys463Asn) c.1272A>T (p.Lys424Asn) c.1254A>T (p.Lys418Asn)	ClinVar
3	g.69965108C>A	CA353559852	MITF	c.1375C>A (p.Leu459Met) c.1372C>A (p.Leu458Met) n.1597C>A c.1348C>A (p.Leu450Met) c.186C>A (n.186C>A) c.1441C>A (p.Leu481Met) c.1120C>A (p.Leu374Met) c.1420C>A (p.Leu474Met) c.1423C>A (p.Leu475Met) c.1102C>A (p.Leu368Met) c.1267C>A (p.Leu423Met) c.767C>A (n.767C>A) c.934C>A (p.Leu312Met) c.1393C>A (p.Leu465Met) c.1285C>A (p.Leu429Met) c.1438C>A (p.Leu480Met) c.1390C>A (p.Leu464Met) c.1273C>A (p.Leu425Met) c.1255C>A (p.Leu419Met)
3	g.69965108C>G	CA353559853	MITF	c.1375C>G (p.Leu459Val) c.1372C>G (p.Leu458Val) n.1597C>G c.1348C>G (p.Leu450Val) c.186C>G (n.186C>G) c.1441C>G (p.Leu481Val) c.1120C>G (p.Leu374Val) c.1420C>G (p.Leu474Val) c.1423C>G (p.Leu475Val) c.1102C>G (p.Leu368Val) c.1267C>G (p.Leu423Val) c.767C>G (n.767C>G) c.934C>G (p.Leu312Val) c.1393C>G (p.Leu465Val) c.1285C>G (p.Leu429Val) c.1438C>G (p.Leu480Val) c.1390C>G (p.Leu464Val) c.1273C>G (p.Leu425Val) c.1255C>G (p.Leu419Val)
3	g.69965108C>T	CA434433798	MITF	c.1375C>T (p.Leu459=) c.1372C>T (p.Leu458=) n.1597C>T c.1348C>T (p.Leu450=) c.186C>T (n.186C>T) c.1441C>T (p.Leu481=) c.1120C>T (p.Leu374=) c.1420C>T (p.Leu474=) c.1423C>T (p.Leu475=) c.1102C>T (p.Leu368=) c.1267C>T (p.Leu423=) c.767C>T (n.767C>T) c.934C>T (p.Leu312=) c.1393C>T (p.Leu465=) c.1285C>T (p.Leu429=) c.1438C>T (p.Leu480=) c.1390C>T (p.Leu464=) c.1273C>T (p.Leu425=) c.1255C>T (p.Leu419=)	dbSNP
3	g.69965109T>A	CA353559855	MITF	c.1376T>A (p.Leu459Gln) c.1373T>A (p.Leu458Gln) n.1598T>A c.1349T>A (p.Leu450Gln) c.187T>A (n.187T>A) c.1442T>A (p.Leu481Gln) c.1121T>A (p.Leu374Gln) c.1421T>A (p.Leu474Gln) c.1424T>A (p.Leu475Gln) c.1103T>A (p.Leu368Gln) c.1268T>A (p.Leu423Gln) c.768T>A (n.768T>A) c.935T>A (p.Leu312Gln) c.1394T>A (p.Leu465Gln) c.1286T>A (p.Leu429Gln) c.1439T>A (p.Leu480Gln) c.1391T>A (p.Leu464Gln) c.1274T>A (p.Leu425Gln) c.1256T>A (p.Leu419Gln)
3	g.69965109T>C	CA353559856	MITF	c.1376T>C (p.Leu459Pro) c.1373T>C (p.Leu458Pro) n.1598T>C c.1349T>C (p.Leu450Pro) c.187T>C (n.187T>C) c.1442T>C (p.Leu481Pro) c.1121T>C (p.Leu374Pro) c.1421T>C (p.Leu474Pro) c.1424T>C (p.Leu475Pro) c.1103T>C (p.Leu368Pro) c.1268T>C (p.Leu423Pro) c.768T>C (n.768T>C) c.935T>C (p.Leu312Pro) c.1394T>C (p.Leu465Pro) c.1286T>C (p.Leu429Pro) c.1439T>C (p.Leu480Pro) c.1391T>C (p.Leu464Pro) c.1274T>C (p.Leu425Pro) c.1256T>C (p.Leu419Pro)	ClinVar gnomAD v4 COSMIC COSMIC COSMIC COSMIC
3	g.69965109T>G	CA353559854	MITF	c.1376T>G (p.Leu459Arg) c.1373T>G (p.Leu458Arg) n.1598T>G c.1349T>G (p.Leu450Arg) c.187T>G (n.187T>G) c.1442T>G (p.Leu481Arg) c.1121T>G (p.Leu374Arg) c.1421T>G (p.Leu474Arg) c.1424T>G (p.Leu475Arg) c.1103T>G (p.Leu368Arg) c.1268T>G (p.Leu423Arg) c.768T>G (n.768T>G) c.935T>G (p.Leu312Arg) c.1394T>G (p.Leu465Arg) c.1286T>G (p.Leu429Arg) c.1439T>G (p.Leu480Arg) c.1391T>G (p.Leu464Arg) c.1274T>G (p.Leu425Arg) c.1256T>G (p.Leu419Arg)
3	g.69965110G>A	CA2490669	MITF	c.1377G>A (p.Leu459=) c.1374G>A (p.Leu458=) n.1599G>A c.1350G>A (p.Leu450=) c.188G>A (n.188G>A) c.1443G>A (p.Leu481=) c.1122G>A (p.Leu374=) c.1422G>A (p.Leu474=) c.1425G>A (p.Leu475=) c.1104G>A (p.Leu368=) c.1269G>A (p.Leu423=) c.769G>A (n.769G>A) c.936G>A (p.Leu312=) c.1395G>A (p.Leu465=) c.1287G>A (p.Leu429=) c.1440G>A (p.Leu480=) c.1392G>A (p.Leu464=) c.1275G>A (p.Leu425=) c.1257G>A (p.Leu419=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3	g.69965110G>C	CA434433799	MITF	c.1377G>C (p.Leu459=) c.1374G>C (p.Leu458=) n.1599G>C c.1350G>C (p.Leu450=) c.188G>C (n.188G>C) c.1443G>C (p.Leu481=) c.1122G>C (p.Leu374=) c.1422G>C (p.Leu474=) c.1425G>C (p.Leu475=) c.1104G>C (p.Leu368=) c.1269G>C (p.Leu423=) c.769G>C (n.769G>C) c.936G>C (p.Leu312=) c.1395G>C (p.Leu465=) c.1287G>C (p.Leu429=) c.1440G>C (p.Leu480=) c.1392G>C (p.Leu464=) c.1275G>C (p.Leu425=) c.1257G>C (p.Leu419=)
3	g.69965110G=	CA1373414349	MITF	c.1377G= (p.Leu459=) c.1374G= (p.Leu458=) n.1599G= c.1350G= (p.Leu450=) c.188G= (n.188G=) c.1443G= (p.Leu481=) c.1122G= (p.Leu374=) c.1422G= (p.Leu474=) c.1425G= (p.Leu475=) c.1104G= (p.Leu368=) c.1269G= (p.Leu423=) c.769G= (n.769G=) c.936G= (p.Leu312=) c.1395G= (p.Leu465=) c.1287G= (p.Leu429=) c.1440G= (p.Leu480=) c.1392G= (p.Leu464=) c.1275G= (p.Leu425=) c.1257G= (p.Leu419=)
3	g.69965110G>T	CA434433800	MITF	c.1377G>T (p.Leu459=) c.1374G>T (p.Leu458=) n.1599G>T c.1350G>T (p.Leu450=) c.188G>T (n.188G>T) c.1443G>T (p.Leu481=) c.1122G>T (p.Leu374=) c.1422G>T (p.Leu474=) c.1425G>T (p.Leu475=) c.1104G>T (p.Leu368=) c.1269G>T (p.Leu423=) c.769G>T (n.769G>T) c.936G>T (p.Leu312=) c.1395G>T (p.Leu465=) c.1287G>T (p.Leu429=) c.1440G>T (p.Leu480=) c.1392G>T (p.Leu464=) c.1275G>T (p.Leu425=) c.1257G>T (p.Leu419=)

Number of alleles fetched