Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.69965069A>CCA353559766MITFc.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)
3g.69965069A>GCA353559767MITFc.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)
3g.69965069A>TCA353559768MITFc.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)
3g.69965070A=CA1373414295MITFc.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=)
3g.69965070A>CCA353559770MITFc.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)
3g.69965070A>GCA353559771MITFc.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
3g.69965070A>TCA353559769MITFc.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)
3g.69965071C>ACA353559772MITFc.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)
3g.69965071C=CA1373414299MITFc.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=)
3g.69965071C>GCA353559773MITFc.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)
3g.69965071C>TCA2490660MITFc.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
3g.69965072C>ACA2490661MITFc.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
3g.69965072C=CA1373414302MITFc.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=)
3g.69965072C>GCA353559775MITFc.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)
3g.69965072C>TCA353559774MITFc.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)
3g.69965073A=CA1373414305MITFc.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=)
3g.69965073A>CCA353559776MITFc.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)
3g.69965073A>GCA353559777MITFc.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
3g.69965073A>TCA353559778MITFc.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)
3g.69965074A>CCA353559779MITFc.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)
3g.69965074A>GCA434433775MITFc.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=)
3g.69965074A>TCA353559780MITFc.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)
3g.69965075G>ACA353559781MITFc.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
3g.69965075G>CCA353559782MITFc.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)
3g.69965075G>TCA353559783MITFc.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)
3g.69965076C>ACA2490662MITFc.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
3g.69965076C=CA1373414309MITFc.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=)
3g.69965076C>GCA353559784MITFc.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
3g.69965076C>TCA353559785MITFc.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)
3g.69965077C>ACA434433776MITFc.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
3g.69965077C>GCA434433777MITFc.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=)
3g.69965077C>TCA434433778MITFc.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
3g.69965078T>ACA353559788MITFc.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)
3g.69965078T>CCA353559786MITFc.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)
3g.69965078T>GCA353559787MITFc.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)
3g.69965079A=CA1373414314MITFc.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=)
3g.69965079A>CCA353559789MITFc.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)
3g.69965079A>GCA2490663MITFc.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
3g.69965079A>TCA2490664MITFc.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
3g.69965080T>ACA353559790MITFc.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)
3g.69965080T>CCA434433779MITFc.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
3g.69965080T>GCA353559791MITFc.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)
3g.69965081A=CA1373414321MITFc.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=)
3g.69965081A>CCA353559792MITFc.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)
3g.69965081A>GCA353559793MITFc.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
3g.69965081A>TCA353559794MITFc.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
3g.69965082G>ACA353559795MITFc.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
3g.69965082G>CCA353559796MITFc.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)
3g.69965082G=CA1373414323MITFc.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=)
3g.69965082G>TCA353559797MITFc.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)
3g.69965083T>ACA353559798MITFc.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)
3g.69965083T>CCA434433780MITFc.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
3g.69965083T>GCA353559799MITFc.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)
3g.69965083T=CA1373414325MITFc.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=)
3g.69965084G>ACA353559800MITFc.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
3g.69965084G>CCA353559801MITFc.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)
3g.69965084G>TCA353559802MITFc.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)
3g.69965085T>ACA353559803MITFc.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)
3g.69965085T>CCA353559804MITFc.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)
3g.69965085T>GCA353559805MITFc.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)
3g.69965086C>ACA2490665MITFc.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
3g.69965086C=CA1373414327MITFc.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=)
3g.69965086C>GCA434433782MITFc.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=)
3g.69965086C>TCA434433781MITFc.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
3g.69965086_69965096delCA2666480944MITFc.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
3g.69965087C>ACA353559806MITFc.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)
3g.69965087C=CA1373414331MITFc.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=)
3g.69965087C>GCA353559807MITFc.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)
3g.69965087C>TCA2490666MITFc.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
3g.69965088C>ACA353559808MITFc.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
3g.69965088C>GCA353559809MITFc.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)
3g.69965088C>TCA353559810MITFc.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
3g.69965089C>ACA434433783MITFc.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=)
3g.69965089C>GCA434433784MITFc.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=)
3g.69965089C>TCA434433785MITFc.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
3g.69965090A=CA1373414333MITFc.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=)
3g.69965090A>CCA353559811MITFc.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
3g.69965090A>GCA353559813MITFc.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
3g.69965090A>TCA353559812MITFc.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)
3g.69965091C>ACA353559814MITFc.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
3g.69965091C>GCA353559815MITFc.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)
3g.69965091C>TCA353559816MITFc.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
3g.69965092A>CCA434433786MITFc.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=)
3g.69965092A>GCA434433787MITFc.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
3g.69965092A>TCA434433788MITFc.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
3g.69965096dupCA434433789MITFc.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
3g.69965093A=CA1373414335MITFc.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=)
3g.69965093A>CCA353559817MITFc.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)
3g.69965093A>GCA353559818MITFc.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
3g.69965093A>TCA353559819MITFc.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)
3g.69965094A>CCA353559820MITFc.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)
3g.69965094A>GCA353559821MITFc.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)
3g.69965094A>TCA353559822MITFc.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)
3g.69965095A>CCA353559823MITFc.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)
3g.69965095A>GCA434433790MITFc.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
3g.69965095A>TCA353559824MITFc.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)
3g.69965096A>CCA353559826MITFc.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)
3g.69965096A>GCA353559827MITFc.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)
3g.69965096A>TCA353559825MITFc.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)
3g.69965097T>ACA353559830MITFc.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)
3g.69965097T>CCA353559828MITFc.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)
3g.69965097T>GCA353559829MITFc.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)
3g.69965098G>ACA353559831MITFc.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
3g.69965098G>CCA353559832MITFc.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)
3g.69965098G=CA1373414338MITFc.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=)
3g.69965098G>TCA353559833MITFc.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)
3g.69965099G>ACA353559834MITFc.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
3g.69965099G>CCA353559835MITFc.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
3g.69965099G=CA1373414340MITFc.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=)
3g.69965099G>TCA353559836MITFc.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)
3g.69965100G>ACA2490667MITFc.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
3g.69965100G>CCA2490668MITFc.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
3g.69965100G=CA1373414343MITFc.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=)
3g.69965100G>TCA353559837MITFc.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
3g.69965101A>CCA434433791MITFc.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=)
3g.69965101A>GCA434433793MITFc.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
3g.69965101A>TCA434433792MITFc.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=)
3g.69965102T>ACA353559840MITFc.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
3g.69965102T>CCA353559839MITFc.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)
3g.69965102T>GCA353559838MITFc.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)
3g.69965103C>ACA353559841MITFc.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
3g.69965103C>GCA353559842MITFc.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)
3g.69965103C>TCA353559843MITFc.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)
3g.69965104C>ACA434433794MITFc.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
3g.69965104C=CA1373414345MITFc.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=)
3g.69965104C>GCA434433795MITFc.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=)
3g.69965104C>TCA434433796MITFc.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
3g.69965105A>CCA353559844MITFc.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)
3g.69965105A>GCA353559845MITFc.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
3g.69965105A>TCA353559846MITFc.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)
3g.69965106A>CCA353559847MITFc.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)
3g.69965106A>GCA353559848MITFc.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
3g.69965106A>TCA353559849MITFc.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)
3g.69965107A>CCA353559850MITFc.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)
3g.69965107A>GCA434433797MITFc.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=)
3g.69965107A>TCA353559851MITFc.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
3g.69965108C>ACA353559852MITFc.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)
3g.69965108C>GCA353559853MITFc.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)
3g.69965108C>TCA434433798MITFc.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
3g.69965109T>ACA353559855MITFc.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)
3g.69965109T>CCA353559856MITFc.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
3g.69965109T>GCA353559854MITFc.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)
3g.69965110G>ACA2490669MITFc.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
3g.69965110G>CCA434433799MITFc.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=)
3g.69965110G=CA1373414349MITFc.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=)
3g.69965110G>TCA434433800MITFc.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=)
3g.69965111G>ACA353559857MITFc.1378G>A (p.Glu460Lys)
c.1375G>A (p.Glu459Lys)
n.1600G>A
c.1351G>A (p.Glu451Lys)
c.*189G>A (n.*189G>A)
c.1444G>A (p.Glu482Lys)
c.1123G>A (p.Glu375Lys)
c.1423G>A (p.Glu475Lys)
c.1426G>A (p.Glu476Lys)
c.1105G>A (p.Glu369Lys)
c.1270G>A (p.Glu424Lys)
c.*770G>A (n.*770G>A)
c.937G>A (p.Glu313Lys)
c.1396G>A (p.Glu466Lys)
c.1288G>A (p.Glu430Lys)
c.1441G>A (p.Glu481Lys)
c.1393G>A (p.Glu465Lys)
c.1276G>A (p.Glu426Lys)
c.1258G>A (p.Glu420Lys)
3g.69965111G>CCA353559858MITFc.1378G>C (p.Glu460Gln)
c.1375G>C (p.Glu459Gln)
n.1600G>C
c.1351G>C (p.Glu451Gln)
c.*189G>C (n.*189G>C)
c.1444G>C (p.Glu482Gln)
c.1123G>C (p.Glu375Gln)
c.1423G>C (p.Glu475Gln)
c.1426G>C (p.Glu476Gln)
c.1105G>C (p.Glu369Gln)
c.1270G>C (p.Glu424Gln)
c.*770G>C (n.*770G>C)
c.937G>C (p.Glu313Gln)
c.1396G>C (p.Glu466Gln)
c.1288G>C (p.Glu430Gln)
c.1441G>C (p.Glu481Gln)
c.1393G>C (p.Glu465Gln)
c.1276G>C (p.Glu426Gln)
c.1258G>C (p.Glu420Gln)
 dbSNP
3g.69965111G>TCA353559859MITFc.1378G>T (p.Glu460Ter)
c.1375G>T (p.Glu459Ter)
n.1600G>T
c.1351G>T (p.Glu451Ter)
c.*189G>T (n.*189G>T)
c.1444G>T (p.Glu482Ter)
c.1123G>T (p.Glu375Ter)
c.1423G>T (p.Glu475Ter)
c.1426G>T (p.Glu476Ter)
c.1105G>T (p.Glu369Ter)
c.1270G>T (p.Glu424Ter)
c.*770G>T (n.*770G>T)
c.937G>T (p.Glu313Ter)
c.1396G>T (p.Glu466Ter)
c.1288G>T (p.Glu430Ter)
c.1441G>T (p.Glu481Ter)
c.1393G>T (p.Glu465Ter)
c.1276G>T (p.Glu426Ter)
c.1258G>T (p.Glu420Ter)
3g.69965112A>CCA353559860MITFc.1379A>C (p.Glu460Ala)
c.1376A>C (p.Glu459Ala)
n.1601A>C
c.1352A>C (p.Glu451Ala)
c.*190A>C (n.*190A>C)
c.1445A>C (p.Glu482Ala)
c.1124A>C (p.Glu375Ala)
c.1424A>C (p.Glu475Ala)
c.1427A>C (p.Glu476Ala)
c.1106A>C (p.Glu369Ala)
c.1271A>C (p.Glu424Ala)
c.*771A>C (n.*771A>C)
c.938A>C (p.Glu313Ala)
c.1397A>C (p.Glu466Ala)
c.1289A>C (p.Glu430Ala)
c.1442A>C (p.Glu481Ala)
c.1394A>C (p.Glu465Ala)
c.1277A>C (p.Glu426Ala)
c.1259A>C (p.Glu420Ala)
3g.69965112A>GCA353559861MITFc.1379A>G (p.Glu460Gly)
c.1376A>G (p.Glu459Gly)
n.1601A>G
c.1352A>G (p.Glu451Gly)
c.*190A>G (n.*190A>G)
c.1445A>G (p.Glu482Gly)
c.1124A>G (p.Glu375Gly)
c.1424A>G (p.Glu475Gly)
c.1427A>G (p.Glu476Gly)
c.1106A>G (p.Glu369Gly)
c.1271A>G (p.Glu424Gly)
c.*771A>G (n.*771A>G)
c.938A>G (p.Glu313Gly)
c.1397A>G (p.Glu466Gly)
c.1289A>G (p.Glu430Gly)
c.1442A>G (p.Glu481Gly)
c.1394A>G (p.Glu465Gly)
c.1277A>G (p.Glu426Gly)
c.1259A>G (p.Glu420Gly)
3g.69965112A>TCA353559862MITFc.1379A>T (p.Glu460Val)
c.1376A>T (p.Glu459Val)
n.1601A>T
c.1352A>T (p.Glu451Val)
c.*190A>T (n.*190A>T)
c.1445A>T (p.Glu482Val)
c.1124A>T (p.Glu375Val)
c.1424A>T (p.Glu475Val)
c.1427A>T (p.Glu476Val)
c.1106A>T (p.Glu369Val)
c.1271A>T (p.Glu424Val)
c.*771A>T (n.*771A>T)
c.938A>T (p.Glu313Val)
c.1397A>T (p.Glu466Val)
c.1289A>T (p.Glu430Val)
c.1442A>T (p.Glu481Val)
c.1394A>T (p.Glu465Val)
c.1277A>T (p.Glu426Val)
c.1259A>T (p.Glu420Val)
3g.69965113A>CCA353559863MITFc.1380A>C (p.Glu460Asp)
c.1377A>C (p.Glu459Asp)
n.1602A>C
c.1353A>C (p.Glu451Asp)
c.*191A>C (n.*191A>C)
c.1446A>C (p.Glu482Asp)
c.1125A>C (p.Glu375Asp)
c.1425A>C (p.Glu475Asp)
c.1428A>C (p.Glu476Asp)
c.1107A>C (p.Glu369Asp)
c.1272A>C (p.Glu424Asp)
c.*772A>C (n.*772A>C)
c.939A>C (p.Glu313Asp)
c.1398A>C (p.Glu466Asp)
c.1290A>C (p.Glu430Asp)
c.1443A>C (p.Glu481Asp)
c.1395A>C (p.Glu465Asp)
c.1278A>C (p.Glu426Asp)
c.1260A>C (p.Glu420Asp)
3g.69965113A>GCA434433801MITFc.1380A>G (p.Glu460=)
c.1377A>G (p.Glu459=)
n.1602A>G
c.1353A>G (p.Glu451=)
c.*191A>G (n.*191A>G)
c.1446A>G (p.Glu482=)
c.1125A>G (p.Glu375=)
c.1425A>G (p.Glu475=)
c.1428A>G (p.Glu476=)
c.1107A>G (p.Glu369=)
c.1272A>G (p.Glu424=)
c.*772A>G (n.*772A>G)
c.939A>G (p.Glu313=)
c.1398A>G (p.Glu466=)
c.1290A>G (p.Glu430=)
c.1443A>G (p.Glu481=)
c.1395A>G (p.Glu465=)
c.1278A>G (p.Glu426=)
c.1260A>G (p.Glu420=)
3g.69965113A>TCA353559864MITFc.1380A>T (p.Glu460Asp)
c.1377A>T (p.Glu459Asp)
n.1602A>T
c.1353A>T (p.Glu451Asp)
c.*191A>T (n.*191A>T)
c.1446A>T (p.Glu482Asp)
c.1125A>T (p.Glu375Asp)
c.1425A>T (p.Glu475Asp)
c.1428A>T (p.Glu476Asp)
c.1107A>T (p.Glu369Asp)
c.1272A>T (p.Glu424Asp)
c.*772A>T (n.*772A>T)
c.939A>T (p.Glu313Asp)
c.1398A>T (p.Glu466Asp)
c.1290A>T (p.Glu430Asp)
c.1443A>T (p.Glu481Asp)
c.1395A>T (p.Glu465Asp)
c.1278A>T (p.Glu426Asp)
c.1260A>T (p.Glu420Asp)
3g.69965114G>ACA353559865MITFc.1381G>A (p.Asp461Asn)
c.1378G>A (p.Asp460Asn)
n.1603G>A
c.1354G>A (p.Asp452Asn)
c.*192G>A (n.*192G>A)
c.1447G>A (p.Asp483Asn)
c.1126G>A (p.Asp376Asn)
c.1426G>A (p.Asp476Asn)
c.1429G>A (p.Asp477Asn)
c.1108G>A (p.Asp370Asn)
c.1273G>A (p.Asp425Asn)
c.*773G>A (n.*773G>A)
c.940G>A (p.Asp314Asn)
c.1399G>A (p.Asp467Asn)
c.1291G>A (p.Asp431Asn)
c.1444G>A (p.Asp482Asn)
c.1396G>A (p.Asp466Asn)
c.1279G>A (p.Asp427Asn)
c.1261G>A (p.Asp421Asn)
 dbSNP
3g.69965114G>CCA353559866MITFc.1381G>C (p.Asp461His)
c.1378G>C (p.Asp460His)
n.1603G>C
c.1354G>C (p.Asp452His)
c.*192G>C (n.*192G>C)
c.1447G>C (p.Asp483His)
c.1126G>C (p.Asp376His)
c.1426G>C (p.Asp476His)
c.1429G>C (p.Asp477His)
c.1108G>C (p.Asp370His)
c.1273G>C (p.Asp425His)
c.*773G>C (n.*773G>C)
c.940G>C (p.Asp314His)
c.1399G>C (p.Asp467His)
c.1291G>C (p.Asp431His)
c.1444G>C (p.Asp482His)
c.1396G>C (p.Asp466His)
c.1279G>C (p.Asp427His)
c.1261G>C (p.Asp421His)
3g.69965114G=CA1373414354MITFc.1381G= (p.Asp461=)
c.1378G= (p.Asp460=)
n.1603G=
c.1354G= (p.Asp452=)
c.*192G= (n.*192G=)
c.1447G= (p.Asp483=)
c.1126G= (p.Asp376=)
c.1426G= (p.Asp476=)
c.1429G= (p.Asp477=)
c.1108G= (p.Asp370=)
c.1273G= (p.Asp425=)
c.*773G= (n.*773G=)
c.940G= (p.Asp314=)
c.1399G= (p.Asp467=)
c.1291G= (p.Asp431=)
c.1444G= (p.Asp482=)
c.1396G= (p.Asp466=)
c.1279G= (p.Asp427=)
c.1261G= (p.Asp421=)
3g.69965114G>TCA77003527MITFc.1381G>T (p.Asp461Tyr)
c.1378G>T (p.Asp460Tyr)
n.1603G>T
c.1354G>T (p.Asp452Tyr)
c.*192G>T (n.*192G>T)
c.1447G>T (p.Asp483Tyr)
c.1126G>T (p.Asp376Tyr)
c.1426G>T (p.Asp476Tyr)
c.1429G>T (p.Asp477Tyr)
c.1108G>T (p.Asp370Tyr)
c.1273G>T (p.Asp425Tyr)
c.*773G>T (n.*773G>T)
c.940G>T (p.Asp314Tyr)
c.1399G>T (p.Asp467Tyr)
c.1291G>T (p.Asp431Tyr)
c.1444G>T (p.Asp482Tyr)
c.1396G>T (p.Asp466Tyr)
c.1279G>T (p.Asp427Tyr)
c.1261G>T (p.Asp421Tyr)
 dbSNP
3g.69965115A=CA1373414357MITFc.1382A= (p.Asp461=)
c.1379A= (p.Asp460=)
n.1604A=
c.1355A= (p.Asp452=)
c.*193A= (n.*193A=)
c.1448A= (p.Asp483=)
c.1127A= (p.Asp376=)
c.1427A= (p.Asp476=)
c.1430A= (p.Asp477=)
c.1109A= (p.Asp370=)
c.1274A= (p.Asp425=)
c.*774A= (n.*774A=)
c.941A= (p.Asp314=)
c.1400A= (p.Asp467=)
c.1292A= (p.Asp431=)
c.1445A= (p.Asp482=)
c.1397A= (p.Asp466=)
c.1280A= (p.Asp427=)
c.1262A= (p.Asp421=)
3g.69965115A>CCA353559868MITFc.1382A>C (p.Asp461Ala)
c.1379A>C (p.Asp460Ala)
n.1604A>C
c.1355A>C (p.Asp452Ala)
c.*193A>C (n.*193A>C)
c.1448A>C (p.Asp483Ala)
c.1127A>C (p.Asp376Ala)
c.1427A>C (p.Asp476Ala)
c.1430A>C (p.Asp477Ala)
c.1109A>C (p.Asp370Ala)
c.1274A>C (p.Asp425Ala)
c.*774A>C (n.*774A>C)
c.941A>C (p.Asp314Ala)
c.1400A>C (p.Asp467Ala)
c.1292A>C (p.Asp431Ala)
c.1445A>C (p.Asp482Ala)
c.1397A>C (p.Asp466Ala)
c.1280A>C (p.Asp427Ala)
c.1262A>C (p.Asp421Ala)
3g.69965115A>GCA353559869MITFc.1382A>G (p.Asp461Gly)
c.1379A>G (p.Asp460Gly)
n.1604A>G
c.1355A>G (p.Asp452Gly)
c.*193A>G (n.*193A>G)
c.1448A>G (p.Asp483Gly)
c.1127A>G (p.Asp376Gly)
c.1427A>G (p.Asp476Gly)
c.1430A>G (p.Asp477Gly)
c.1109A>G (p.Asp370Gly)
c.1274A>G (p.Asp425Gly)
c.*774A>G (n.*774A>G)
c.941A>G (p.Asp314Gly)
c.1400A>G (p.Asp467Gly)
c.1292A>G (p.Asp431Gly)
c.1445A>G (p.Asp482Gly)
c.1397A>G (p.Asp466Gly)
c.1280A>G (p.Asp427Gly)
c.1262A>G (p.Asp421Gly)
 dbSNP
3g.69965115A>TCA353559867MITFc.1382A>T (p.Asp461Val)
c.1379A>T (p.Asp460Val)
n.1604A>T
c.1355A>T (p.Asp452Val)
c.*193A>T (n.*193A>T)
c.1448A>T (p.Asp483Val)
c.1127A>T (p.Asp376Val)
c.1427A>T (p.Asp476Val)
c.1430A>T (p.Asp477Val)
c.1109A>T (p.Asp370Val)
c.1274A>T (p.Asp425Val)
c.*774A>T (n.*774A>T)
c.941A>T (p.Asp314Val)
c.1400A>T (p.Asp467Val)
c.1292A>T (p.Asp431Val)
c.1445A>T (p.Asp482Val)
c.1397A>T (p.Asp466Val)
c.1280A>T (p.Asp427Val)
c.1262A>T (p.Asp421Val)
3g.69965116C>ACA2490670MITFc.1383C>A (p.Asp461Glu)
c.1380C>A (p.Asp460Glu)
n.1605C>A
c.1356C>A (p.Asp452Glu)
c.*194C>A (n.*194C>A)
c.1449C>A (p.Asp483Glu)
c.1128C>A (p.Asp376Glu)
c.1428C>A (p.Asp476Glu)
c.1431C>A (p.Asp477Glu)
c.1110C>A (p.Asp370Glu)
c.1275C>A (p.Asp425Glu)
c.*775C>A (n.*775C>A)
c.942C>A (p.Asp314Glu)
c.1401C>A (p.Asp467Glu)
c.1293C>A (p.Asp431Glu)
c.1446C>A (p.Asp482Glu)
c.1398C>A (p.Asp466Glu)
c.1281C>A (p.Asp427Glu)
c.1263C>A (p.Asp421Glu)
 dbSNP ExAC gnomAD v2
3g.69965116C=CA1373414361MITFc.1383C= (p.Asp461=)
c.1380C= (p.Asp460=)
n.1605C=
c.1356C= (p.Asp452=)
c.*194C= (n.*194C=)
c.1449C= (p.Asp483=)
c.1128C= (p.Asp376=)
c.1428C= (p.Asp476=)
c.1431C= (p.Asp477=)
c.1110C= (p.Asp370=)
c.1275C= (p.Asp425=)
c.*775C= (n.*775C=)
c.942C= (p.Asp314=)
c.1401C= (p.Asp467=)
c.1293C= (p.Asp431=)
c.1446C= (p.Asp482=)
c.1398C= (p.Asp466=)
c.1281C= (p.Asp427=)
c.1263C= (p.Asp421=)
3g.69965116C>GCA353559870MITFc.1383C>G (p.Asp461Glu)
c.1380C>G (p.Asp460Glu)
n.1605C>G
c.1356C>G (p.Asp452Glu)
c.*194C>G (n.*194C>G)
c.1449C>G (p.Asp483Glu)
c.1128C>G (p.Asp376Glu)
c.1428C>G (p.Asp476Glu)
c.1431C>G (p.Asp477Glu)
c.1110C>G (p.Asp370Glu)
c.1275C>G (p.Asp425Glu)
c.*775C>G (n.*775C>G)
c.942C>G (p.Asp314Glu)
c.1401C>G (p.Asp467Glu)
c.1293C>G (p.Asp431Glu)
c.1446C>G (p.Asp482Glu)
c.1398C>G (p.Asp466Glu)
c.1281C>G (p.Asp427Glu)
c.1263C>G (p.Asp421Glu)
3g.69965116C>TCA434433802MITFc.1383C>T (p.Asp461=)
c.1380C>T (p.Asp460=)
n.1605C>T
c.1356C>T (p.Asp452=)
c.*194C>T (n.*194C>T)
c.1449C>T (p.Asp483=)
c.1128C>T (p.Asp376=)
c.1428C>T (p.Asp476=)
c.1431C>T (p.Asp477=)
c.1110C>T (p.Asp370=)
c.1275C>T (p.Asp425=)
c.*775C>T (n.*775C>T)
c.942C>T (p.Asp314=)
c.1401C>T (p.Asp467=)
c.1293C>T (p.Asp431=)
c.1446C>T (p.Asp482=)
c.1398C>T (p.Asp466=)
c.1281C>T (p.Asp427=)
c.1263C>T (p.Asp421=)
3g.69965117A>CCA353559871MITFc.1384A>C (p.Ile462Leu)
c.1381A>C (p.Ile461Leu)
n.1606A>C
c.1357A>C (p.Ile453Leu)
c.*195A>C (n.*195A>C)
c.1450A>C (p.Ile484Leu)
c.1129A>C (p.Ile377Leu)
c.1429A>C (p.Ile477Leu)
c.1432A>C (p.Ile478Leu)
c.1111A>C (p.Ile371Leu)
c.1276A>C (p.Ile426Leu)
c.*776A>C (n.*776A>C)
c.943A>C (p.Ile315Leu)
c.1402A>C (p.Ile468Leu)
c.1294A>C (p.Ile432Leu)
c.1447A>C (p.Ile483Leu)
c.1399A>C (p.Ile467Leu)
c.1282A>C (p.Ile428Leu)
c.1264A>C (p.Ile422Leu)
3g.69965117A>GCA353559872MITFc.1384A>G (p.Ile462Val)
c.1381A>G (p.Ile461Val)
n.1606A>G
c.1357A>G (p.Ile453Val)
c.*195A>G (n.*195A>G)
c.1450A>G (p.Ile484Val)
c.1129A>G (p.Ile377Val)
c.1429A>G (p.Ile477Val)
c.1432A>G (p.Ile478Val)
c.1111A>G (p.Ile371Val)
c.1276A>G (p.Ile426Val)
c.*776A>G (n.*776A>G)
c.943A>G (p.Ile315Val)
c.1402A>G (p.Ile468Val)
c.1294A>G (p.Ile432Val)
c.1447A>G (p.Ile483Val)
c.1399A>G (p.Ile467Val)
c.1282A>G (p.Ile428Val)
c.1264A>G (p.Ile422Val)
3g.69965117A>TCA353559873MITFc.1384A>T (p.Ile462Phe)
c.1381A>T (p.Ile461Phe)
n.1606A>T
c.1357A>T (p.Ile453Phe)
c.*195A>T (n.*195A>T)
c.1450A>T (p.Ile484Phe)
c.1129A>T (p.Ile377Phe)
c.1429A>T (p.Ile477Phe)
c.1432A>T (p.Ile478Phe)
c.1111A>T (p.Ile371Phe)
c.1276A>T (p.Ile426Phe)
c.*776A>T (n.*776A>T)
c.943A>T (p.Ile315Phe)
c.1402A>T (p.Ile468Phe)
c.1294A>T (p.Ile432Phe)
c.1447A>T (p.Ile483Phe)
c.1399A>T (p.Ile467Phe)
c.1282A>T (p.Ile428Phe)
c.1264A>T (p.Ile422Phe)
3g.69965118T>ACA353559876MITFc.1385T>A (p.Ile462Asn)
c.1382T>A (p.Ile461Asn)
n.1607T>A
c.1358T>A (p.Ile453Asn)
c.*196T>A (n.*196T>A)
c.1451T>A (p.Ile484Asn)
c.1130T>A (p.Ile377Asn)
c.1430T>A (p.Ile477Asn)
c.1433T>A (p.Ile478Asn)
c.1112T>A (p.Ile371Asn)
c.1277T>A (p.Ile426Asn)
c.*777T>A (n.*777T>A)
c.944T>A (p.Ile315Asn)
c.1403T>A (p.Ile468Asn)
c.1295T>A (p.Ile432Asn)
c.1448T>A (p.Ile483Asn)
c.1400T>A (p.Ile467Asn)
c.1283T>A (p.Ile428Asn)
c.1265T>A (p.Ile422Asn)
3g.69965118T>CCA353559875MITFc.1385T>C (p.Ile462Thr)
c.1382T>C (p.Ile461Thr)
n.1607T>C
c.1358T>C (p.Ile453Thr)
c.*196T>C (n.*196T>C)
c.1451T>C (p.Ile484Thr)
c.1130T>C (p.Ile377Thr)
c.1430T>C (p.Ile477Thr)
c.1433T>C (p.Ile478Thr)
c.1112T>C (p.Ile371Thr)
c.1277T>C (p.Ile426Thr)
c.*777T>C (n.*777T>C)
c.944T>C (p.Ile315Thr)
c.1403T>C (p.Ile468Thr)
c.1295T>C (p.Ile432Thr)
c.1448T>C (p.Ile483Thr)
c.1400T>C (p.Ile467Thr)
c.1283T>C (p.Ile428Thr)
c.1265T>C (p.Ile422Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.69965118T>GCA353559874MITFc.1385T>G (p.Ile462Ser)
c.1382T>G (p.Ile461Ser)
n.1607T>G
c.1358T>G (p.Ile453Ser)
c.*196T>G (n.*196T>G)
c.1451T>G (p.Ile484Ser)
c.1130T>G (p.Ile377Ser)
c.1430T>G (p.Ile477Ser)
c.1433T>G (p.Ile478Ser)
c.1112T>G (p.Ile371Ser)
c.1277T>G (p.Ile426Ser)
c.*777T>G (n.*777T>G)
c.944T>G (p.Ile315Ser)
c.1403T>G (p.Ile468Ser)
c.1295T>G (p.Ile432Ser)
c.1448T>G (p.Ile483Ser)
c.1400T>G (p.Ile467Ser)
c.1283T>G (p.Ile428Ser)
c.1265T>G (p.Ile422Ser)
3g.69965118T=CA1373414364MITFc.1385T= (p.Ile462=)
c.1382T= (p.Ile461=)
n.1607T=
c.1358T= (p.Ile453=)
c.*196T= (n.*196T=)
c.1451T= (p.Ile484=)
c.1130T= (p.Ile377=)
c.1430T= (p.Ile477=)
c.1433T= (p.Ile478=)
c.1112T= (p.Ile371=)
c.1277T= (p.Ile426=)
c.*777T= (n.*777T=)
c.944T= (p.Ile315=)
c.1403T= (p.Ile468=)
c.1295T= (p.Ile432=)
c.1448T= (p.Ile483=)
c.1400T= (p.Ile467=)
c.1283T= (p.Ile428=)
c.1265T= (p.Ile422=)
3g.69965119C>ACA434433803MITFc.1386C>A (p.Ile462=)
c.1383C>A (p.Ile461=)
n.1608C>A
c.1359C>A (p.Ile453=)
c.*197C>A (n.*197C>A)
c.1452C>A (p.Ile484=)
c.1131C>A (p.Ile377=)
c.1431C>A (p.Ile477=)
c.1434C>A (p.Ile478=)
c.1113C>A (p.Ile371=)
c.1278C>A (p.Ile426=)
c.*778C>A (n.*778C>A)
c.945C>A (p.Ile315=)
c.1404C>A (p.Ile468=)
c.1296C>A (p.Ile432=)
c.1449C>A (p.Ile483=)
c.1401C>A (p.Ile467=)
c.1284C>A (p.Ile428=)
c.1266C>A (p.Ile422=)
 dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC
3g.69965119C>GCA353559877MITFc.1386C>G (p.Ile462Met)
c.1383C>G (p.Ile461Met)
n.1608C>G
c.1359C>G (p.Ile453Met)
c.*197C>G (n.*197C>G)
c.1452C>G (p.Ile484Met)
c.1131C>G (p.Ile377Met)
c.1431C>G (p.Ile477Met)
c.1434C>G (p.Ile478Met)
c.1113C>G (p.Ile371Met)
c.1278C>G (p.Ile426Met)
c.*778C>G (n.*778C>G)
c.945C>G (p.Ile315Met)
c.1404C>G (p.Ile468Met)
c.1296C>G (p.Ile432Met)
c.1449C>G (p.Ile483Met)
c.1401C>G (p.Ile467Met)
c.1284C>G (p.Ile428Met)
c.1266C>G (p.Ile422Met)
3g.69965119C>TCA434433804MITFc.1386C>T (p.Ile462=)
c.1383C>T (p.Ile461=)
n.1608C>T
c.1359C>T (p.Ile453=)
c.*197C>T (n.*197C>T)
c.1452C>T (p.Ile484=)
c.1131C>T (p.Ile377=)
c.1431C>T (p.Ile477=)
c.1434C>T (p.Ile478=)
c.1113C>T (p.Ile371=)
c.1278C>T (p.Ile426=)
c.*778C>T (n.*778C>T)
c.945C>T (p.Ile315=)
c.1404C>T (p.Ile468=)
c.1296C>T (p.Ile432=)
c.1449C>T (p.Ile483=)
c.1401C>T (p.Ile467=)
c.1284C>T (p.Ile428=)
c.1266C>T (p.Ile422=)
 gnomAD v4
3g.69965120C>ACA353559878MITFc.1387C>A (p.Leu463Met)
c.1384C>A (p.Leu462Met)
n.1609C>A
c.1360C>A (p.Leu454Met)
c.*198C>A (n.*198C>A)
c.1453C>A (p.Leu485Met)
c.1132C>A (p.Leu378Met)
c.1432C>A (p.Leu478Met)
c.1435C>A (p.Leu479Met)
c.1114C>A (p.Leu372Met)
c.1279C>A (p.Leu427Met)
c.*779C>A (n.*779C>A)
c.946C>A (p.Leu316Met)
c.1405C>A (p.Leu469Met)
c.1297C>A (p.Leu433Met)
c.1450C>A (p.Leu484Met)
c.1402C>A (p.Leu468Met)
c.1285C>A (p.Leu429Met)
c.1267C>A (p.Leu423Met)
 dbSNP
3g.69965120C>GCA353559879MITFc.1387C>G (p.Leu463Val)
c.1384C>G (p.Leu462Val)
n.1609C>G
c.1360C>G (p.Leu454Val)
c.*198C>G (n.*198C>G)
c.1453C>G (p.Leu485Val)
c.1132C>G (p.Leu378Val)
c.1432C>G (p.Leu478Val)
c.1435C>G (p.Leu479Val)
c.1114C>G (p.Leu372Val)
c.1279C>G (p.Leu427Val)
c.*779C>G (n.*779C>G)
c.946C>G (p.Leu316Val)
c.1405C>G (p.Leu469Val)
c.1297C>G (p.Leu433Val)
c.1450C>G (p.Leu484Val)
c.1402C>G (p.Leu468Val)
c.1285C>G (p.Leu429Val)
c.1267C>G (p.Leu423Val)
3g.69965120C>TCA434433805MITFc.1387C>T (p.Leu463=)
c.1384C>T (p.Leu462=)
n.1609C>T
c.1360C>T (p.Leu454=)
c.*198C>T (n.*198C>T)
c.1453C>T (p.Leu485=)
c.1132C>T (p.Leu378=)
c.1432C>T (p.Leu478=)
c.1435C>T (p.Leu479=)
c.1114C>T (p.Leu372=)
c.1279C>T (p.Leu427=)
c.*779C>T (n.*779C>T)
c.946C>T (p.Leu316=)
c.1405C>T (p.Leu469=)
c.1297C>T (p.Leu433=)
c.1450C>T (p.Leu484=)
c.1402C>T (p.Leu468=)
c.1285C>T (p.Leu429=)
c.1267C>T (p.Leu423=)
3g.69965121T>ACA353559880MITFc.1388T>A (p.Leu463Gln)
c.1385T>A (p.Leu462Gln)
n.1610T>A
c.1361T>A (p.Leu454Gln)
c.*199T>A (n.*199T>A)
c.1454T>A (p.Leu485Gln)
c.1133T>A (p.Leu378Gln)
c.1433T>A (p.Leu478Gln)
c.1436T>A (p.Leu479Gln)
c.1115T>A (p.Leu372Gln)
c.1280T>A (p.Leu427Gln)
c.*780T>A (n.*780T>A)
c.947T>A (p.Leu316Gln)
c.1406T>A (p.Leu469Gln)
c.1298T>A (p.Leu433Gln)
c.1451T>A (p.Leu484Gln)
c.1403T>A (p.Leu468Gln)
c.1286T>A (p.Leu429Gln)
c.1268T>A (p.Leu423Gln)
3g.69965121T>CCA353559881MITFc.1388T>C (p.Leu463Pro)
c.1385T>C (p.Leu462Pro)
n.1610T>C
c.1361T>C (p.Leu454Pro)
c.*199T>C (n.*199T>C)
c.1454T>C (p.Leu485Pro)
c.1133T>C (p.Leu378Pro)
c.1433T>C (p.Leu478Pro)
c.1436T>C (p.Leu479Pro)
c.1115T>C (p.Leu372Pro)
c.1280T>C (p.Leu427Pro)
c.*780T>C (n.*780T>C)
c.947T>C (p.Leu316Pro)
c.1406T>C (p.Leu469Pro)
c.1298T>C (p.Leu433Pro)
c.1451T>C (p.Leu484Pro)
c.1403T>C (p.Leu468Pro)
c.1286T>C (p.Leu429Pro)
c.1268T>C (p.Leu423Pro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.69965121T>GCA353559882MITFc.1388T>G (p.Leu463Arg)
c.1385T>G (p.Leu462Arg)
n.1610T>G
c.1361T>G (p.Leu454Arg)
c.*199T>G (n.*199T>G)
c.1454T>G (p.Leu485Arg)
c.1133T>G (p.Leu378Arg)
c.1433T>G (p.Leu478Arg)
c.1436T>G (p.Leu479Arg)
c.1115T>G (p.Leu372Arg)
c.1280T>G (p.Leu427Arg)
c.*780T>G (n.*780T>G)
c.947T>G (p.Leu316Arg)
c.1406T>G (p.Leu469Arg)
c.1298T>G (p.Leu433Arg)
c.1451T>G (p.Leu484Arg)
c.1403T>G (p.Leu468Arg)
c.1286T>G (p.Leu429Arg)
c.1268T>G (p.Leu423Arg)
3g.69965121T=CA1373414368MITFc.1388T= (p.Leu463=)
c.1385T= (p.Leu462=)
n.1610T=
c.1361T= (p.Leu454=)
c.*199T= (n.*199T=)
c.1454T= (p.Leu485=)
c.1133T= (p.Leu378=)
c.1433T= (p.Leu478=)
c.1436T= (p.Leu479=)
c.1115T= (p.Leu372=)
c.1280T= (p.Leu427=)
c.*780T= (n.*780T=)
c.947T= (p.Leu316=)
c.1406T= (p.Leu469=)
c.1298T= (p.Leu433=)
c.1451T= (p.Leu484=)
c.1403T= (p.Leu468=)
c.1286T= (p.Leu429=)
c.1268T= (p.Leu423=)
3g.69965122G>ACA434433808MITFc.1389G>A (p.Leu463=)
c.1386G>A (p.Leu462=)
n.1611G>A
c.1362G>A (p.Leu454=)
c.*200G>A (n.*200G>A)
c.1455G>A (p.Leu485=)
c.1134G>A (p.Leu378=)
c.1434G>A (p.Leu478=)
c.1437G>A (p.Leu479=)
c.1116G>A (p.Leu372=)
c.1281G>A (p.Leu427=)
c.*781G>A (n.*781G>A)
c.948G>A (p.Leu316=)
c.1407G>A (p.Leu469=)
c.1299G>A (p.Leu433=)
c.1452G>A (p.Leu484=)
c.1404G>A (p.Leu468=)
c.1287G>A (p.Leu429=)
c.1269G>A (p.Leu423=)
 dbSNP
3g.69965122G>CCA434433807MITFc.1389G>C (p.Leu463=)
c.1386G>C (p.Leu462=)
n.1611G>C
c.1362G>C (p.Leu454=)
c.*200G>C (n.*200G>C)
c.1455G>C (p.Leu485=)
c.1134G>C (p.Leu378=)
c.1434G>C (p.Leu478=)
c.1437G>C (p.Leu479=)
c.1116G>C (p.Leu372=)
c.1281G>C (p.Leu427=)
c.*781G>C (n.*781G>C)
c.948G>C (p.Leu316=)
c.1407G>C (p.Leu469=)
c.1299G>C (p.Leu433=)
c.1452G>C (p.Leu484=)
c.1404G>C (p.Leu468=)
c.1287G>C (p.Leu429=)
c.1269G>C (p.Leu423=)
3g.69965122G>TCA434433806MITFc.1389G>T (p.Leu463=)
c.1386G>T (p.Leu462=)
n.1611G>T
c.1362G>T (p.Leu454=)
c.*200G>T (n.*200G>T)
c.1455G>T (p.Leu485=)
c.1134G>T (p.Leu378=)
c.1434G>T (p.Leu478=)
c.1437G>T (p.Leu479=)
c.1116G>T (p.Leu372=)
c.1281G>T (p.Leu427=)
c.*781G>T (n.*781G>T)
c.948G>T (p.Leu316=)
c.1407G>T (p.Leu469=)
c.1299G>T (p.Leu433=)
c.1452G>T (p.Leu484=)
c.1404G>T (p.Leu468=)
c.1287G>T (p.Leu429=)
c.1269G>T (p.Leu423=)
3g.69965123A=CA1373414371MITFc.1390A= (p.Met464=)
c.1387A= (p.Met463=)
n.1612A=
c.1363A= (p.Met455=)
c.*201A= (n.*201A=)
c.1456A= (p.Met486=)
c.1135A= (p.Met379=)
c.1435A= (p.Met479=)
c.1438A= (p.Met480=)
c.1117A= (p.Met373=)
c.1282A= (p.Met428=)
c.*782A= (n.*782A=)
c.949A= (p.Met317=)
c.1408A= (p.Met470=)
c.1300A= (p.Met434=)
c.1453A= (p.Met485=)
c.1405A= (p.Met469=)
c.1288A= (p.Met430=)
c.1270A= (p.Met424=)
3g.69965123A>CCA353559883MITFc.1390A>C (p.Met464Leu)
c.1387A>C (p.Met463Leu)
n.1612A>C
c.1363A>C (p.Met455Leu)
c.*201A>C (n.*201A>C)
c.1456A>C (p.Met486Leu)
c.1135A>C (p.Met379Leu)
c.1435A>C (p.Met479Leu)
c.1438A>C (p.Met480Leu)
c.1117A>C (p.Met373Leu)
c.1282A>C (p.Met428Leu)
c.*782A>C (n.*782A>C)
c.949A>C (p.Met317Leu)
c.1408A>C (p.Met470Leu)
c.1300A>C (p.Met434Leu)
c.1453A>C (p.Met485Leu)
c.1405A>C (p.Met469Leu)
c.1288A>C (p.Met430Leu)
c.1270A>C (p.Met424Leu)
3g.69965123A>GCA2490671MITFc.1390A>G (p.Met464Val)
c.1387A>G (p.Met463Val)
n.1612A>G
c.1363A>G (p.Met455Val)
c.*201A>G (n.*201A>G)
c.1456A>G (p.Met486Val)
c.1135A>G (p.Met379Val)
c.1435A>G (p.Met479Val)
c.1438A>G (p.Met480Val)
c.1117A>G (p.Met373Val)
c.1282A>G (p.Met428Val)
c.*782A>G (n.*782A>G)
c.949A>G (p.Met317Val)
c.1408A>G (p.Met470Val)
c.1300A>G (p.Met434Val)
c.1453A>G (p.Met485Val)
c.1405A>G (p.Met469Val)
c.1288A>G (p.Met430Val)
c.1270A>G (p.Met424Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.69965123A>TCA353559884MITFc.1390A>T (p.Met464Leu)
c.1387A>T (p.Met463Leu)
n.1612A>T
c.1363A>T (p.Met455Leu)
c.*201A>T (n.*201A>T)
c.1456A>T (p.Met486Leu)
c.1135A>T (p.Met379Leu)
c.1435A>T (p.Met479Leu)
c.1438A>T (p.Met480Leu)
c.1117A>T (p.Met373Leu)
c.1282A>T (p.Met428Leu)
c.*782A>T (n.*782A>T)
c.949A>T (p.Met317Leu)
c.1408A>T (p.Met470Leu)
c.1300A>T (p.Met434Leu)
c.1453A>T (p.Met485Leu)
c.1405A>T (p.Met469Leu)
c.1288A>T (p.Met430Leu)
c.1270A>T (p.Met424Leu)
3g.69965124T>ACA353559885MITFc.1391T>A (p.Met464Lys)
c.1388T>A (p.Met463Lys)
n.1613T>A
c.1364T>A (p.Met455Lys)
c.*202T>A (n.*202T>A)
c.1457T>A (p.Met486Lys)
c.1136T>A (p.Met379Lys)
c.1436T>A (p.Met479Lys)
c.1439T>A (p.Met480Lys)
c.1118T>A (p.Met373Lys)
c.1283T>A (p.Met428Lys)
c.*783T>A (n.*783T>A)
c.950T>A (p.Met317Lys)
c.1409T>A (p.Met470Lys)
c.1301T>A (p.Met434Lys)
c.1454T>A (p.Met485Lys)
c.1406T>A (p.Met469Lys)
c.1289T>A (p.Met430Lys)
c.1271T>A (p.Met424Lys)
3g.69965124T>CCA353559887MITFc.1391T>C (p.Met464Thr)
c.1388T>C (p.Met463Thr)
n.1613T>C
c.1364T>C (p.Met455Thr)
c.*202T>C (n.*202T>C)
c.1457T>C (p.Met486Thr)
c.1136T>C (p.Met379Thr)
c.1436T>C (p.Met479Thr)
c.1439T>C (p.Met480Thr)
c.1118T>C (p.Met373Thr)
c.1283T>C (p.Met428Thr)
c.*783T>C (n.*783T>C)
c.950T>C (p.Met317Thr)
c.1409T>C (p.Met470Thr)
c.1301T>C (p.Met434Thr)
c.1454T>C (p.Met485Thr)
c.1406T>C (p.Met469Thr)
c.1289T>C (p.Met430Thr)
c.1271T>C (p.Met424Thr)
3g.69965124T>GCA353559886MITFc.1391T>G (p.Met464Arg)
c.1388T>G (p.Met463Arg)
n.1613T>G
c.1364T>G (p.Met455Arg)
c.*202T>G (n.*202T>G)
c.1457T>G (p.Met486Arg)
c.1136T>G (p.Met379Arg)
c.1436T>G (p.Met479Arg)
c.1439T>G (p.Met480Arg)
c.1118T>G (p.Met373Arg)
c.1283T>G (p.Met428Arg)
c.*783T>G (n.*783T>G)
c.950T>G (p.Met317Arg)
c.1409T>G (p.Met470Arg)
c.1301T>G (p.Met434Arg)
c.1454T>G (p.Met485Arg)
c.1406T>G (p.Met469Arg)
c.1289T>G (p.Met430Arg)
c.1271T>G (p.Met424Arg)
3g.69965125G>ACA353559888MITFc.1392G>A (p.Met464Ile)
c.1389G>A (p.Met463Ile)
n.1614G>A
c.1365G>A (p.Met455Ile)
c.*203G>A (n.*203G>A)
c.1458G>A (p.Met486Ile)
c.1137G>A (p.Met379Ile)
c.1437G>A (p.Met479Ile)
c.1440G>A (p.Met480Ile)
c.1119G>A (p.Met373Ile)
c.1284G>A (p.Met428Ile)
c.*784G>A (n.*784G>A)
c.951G>A (p.Met317Ile)
c.1410G>A (p.Met470Ile)
c.1302G>A (p.Met434Ile)
c.1455G>A (p.Met485Ile)
c.1407G>A (p.Met469Ile)
c.1290G>A (p.Met430Ile)
c.1272G>A (p.Met424Ile)
 dbSNP gnomAD v4
3g.69965125G>CCA353559890MITFc.1392G>C (p.Met464Ile)
c.1389G>C (p.Met463Ile)
n.1614G>C
c.1365G>C (p.Met455Ile)
c.*203G>C (n.*203G>C)
c.1458G>C (p.Met486Ile)
c.1137G>C (p.Met379Ile)
c.1437G>C (p.Met479Ile)
c.1440G>C (p.Met480Ile)
c.1119G>C (p.Met373Ile)
c.1284G>C (p.Met428Ile)
c.*784G>C (n.*784G>C)
c.951G>C (p.Met317Ile)
c.1410G>C (p.Met470Ile)
c.1302G>C (p.Met434Ile)
c.1455G>C (p.Met485Ile)
c.1407G>C (p.Met469Ile)
c.1290G>C (p.Met430Ile)
c.1272G>C (p.Met424Ile)
3g.69965125G=CA1373414374MITFc.1392G= (p.Met464=)
c.1389G= (p.Met463=)
n.1614G=
c.1365G= (p.Met455=)
c.*203G= (n.*203G=)
c.1458G= (p.Met486=)
c.1137G= (p.Met379=)
c.1437G= (p.Met479=)
c.1440G= (p.Met480=)
c.1119G= (p.Met373=)
c.1284G= (p.Met428=)
c.*784G= (n.*784G=)
c.951G= (p.Met317=)
c.1410G= (p.Met470=)
c.1302G= (p.Met434=)
c.1455G= (p.Met485=)
c.1407G= (p.Met469=)
c.1290G= (p.Met430=)
c.1272G= (p.Met424=)
3g.69965125G>TCA353559889MITFc.1392G>T (p.Met464Ile)
c.1389G>T (p.Met463Ile)
n.1614G>T
c.1365G>T (p.Met455Ile)
c.*203G>T (n.*203G>T)
c.1458G>T (p.Met486Ile)
c.1137G>T (p.Met379Ile)
c.1437G>T (p.Met479Ile)
c.1440G>T (p.Met480Ile)
c.1119G>T (p.Met373Ile)
c.1284G>T (p.Met428Ile)
c.*784G>T (n.*784G>T)
c.951G>T (p.Met317Ile)
c.1410G>T (p.Met470Ile)
c.1302G>T (p.Met434Ile)
c.1455G>T (p.Met485Ile)
c.1407G>T (p.Met469Ile)
c.1290G>T (p.Met430Ile)
c.1272G>T (p.Met424Ile)
3g.69965126G>ACA353559891MITFc.1393G>A (p.Asp465Asn)
c.1390G>A (p.Asp464Asn)
n.1615G>A
c.1366G>A (p.Asp456Asn)
c.*204G>A (n.*204G>A)
c.1459G>A (p.Asp487Asn)
c.1138G>A (p.Asp380Asn)
c.1438G>A (p.Asp480Asn)
c.1441G>A (p.Asp481Asn)
c.1120G>A (p.Asp374Asn)
c.1285G>A (p.Asp429Asn)
c.*785G>A (n.*785G>A)
c.952G>A (p.Asp318Asn)
c.1411G>A (p.Asp471Asn)
c.1303G>A (p.Asp435Asn)
c.1456G>A (p.Asp486Asn)
c.1408G>A (p.Asp470Asn)
c.1291G>A (p.Asp431Asn)
c.1273G>A (p.Asp425Asn)
 gnomAD v4 COSMIC
3g.69965126G>CCA353559893MITFc.1393G>C (p.Asp465His)
c.1390G>C (p.Asp464His)
n.1615G>C
c.1366G>C (p.Asp456His)
c.*204G>C (n.*204G>C)
c.1459G>C (p.Asp487His)
c.1138G>C (p.Asp380His)
c.1438G>C (p.Asp480His)
c.1441G>C (p.Asp481His)
c.1120G>C (p.Asp374His)
c.1285G>C (p.Asp429His)
c.*785G>C (n.*785G>C)
c.952G>C (p.Asp318His)
c.1411G>C (p.Asp471His)
c.1303G>C (p.Asp435His)
c.1456G>C (p.Asp486His)
c.1408G>C (p.Asp470His)
c.1291G>C (p.Asp431His)
c.1273G>C (p.Asp425His)
 dbSNP
3g.69965126G>TCA353559892MITFc.1393G>T (p.Asp465Tyr)
c.1390G>T (p.Asp464Tyr)
n.1615G>T
c.1366G>T (p.Asp456Tyr)
c.*204G>T (n.*204G>T)
c.1459G>T (p.Asp487Tyr)
c.1138G>T (p.Asp380Tyr)
c.1438G>T (p.Asp480Tyr)
c.1441G>T (p.Asp481Tyr)
c.1120G>T (p.Asp374Tyr)
c.1285G>T (p.Asp429Tyr)
c.*785G>T (n.*785G>T)
c.952G>T (p.Asp318Tyr)
c.1411G>T (p.Asp471Tyr)
c.1303G>T (p.Asp435Tyr)
c.1456G>T (p.Asp486Tyr)
c.1408G>T (p.Asp470Tyr)
c.1291G>T (p.Asp431Tyr)
c.1273G>T (p.Asp425Tyr)
3g.69965127A=CA1373414377MITFc.1394A= (p.Asp465=)
c.1391A= (p.Asp464=)
n.1616A=
c.1367A= (p.Asp456=)
c.*205A= (n.*205A=)
c.1460A= (p.Asp487=)
c.1139A= (p.Asp380=)
c.1439A= (p.Asp480=)
c.1442A= (p.Asp481=)
c.1121A= (p.Asp374=)
c.1286A= (p.Asp429=)
c.*786A= (n.*786A=)
c.953A= (p.Asp318=)
c.1412A= (p.Asp471=)
c.1304A= (p.Asp435=)
c.1457A= (p.Asp486=)
c.1409A= (p.Asp470=)
c.1292A= (p.Asp431=)
c.1274A= (p.Asp425=)
3g.69965127A>CCA353559894MITFc.1394A>C (p.Asp465Ala)
c.1391A>C (p.Asp464Ala)
n.1616A>C
c.1367A>C (p.Asp456Ala)
c.*205A>C (n.*205A>C)
c.1460A>C (p.Asp487Ala)
c.1139A>C (p.Asp380Ala)
c.1439A>C (p.Asp480Ala)
c.1442A>C (p.Asp481Ala)
c.1121A>C (p.Asp374Ala)
c.1286A>C (p.Asp429Ala)
c.*786A>C (n.*786A>C)
c.953A>C (p.Asp318Ala)
c.1412A>C (p.Asp471Ala)
c.1304A>C (p.Asp435Ala)
c.1457A>C (p.Asp486Ala)
c.1409A>C (p.Asp470Ala)
c.1292A>C (p.Asp431Ala)
c.1274A>C (p.Asp425Ala)
 dbSNP
3g.69965127A>GCA353559895MITFc.1394A>G (p.Asp465Gly)
c.1391A>G (p.Asp464Gly)
n.1616A>G
c.1367A>G (p.Asp456Gly)
c.*205A>G (n.*205A>G)
c.1460A>G (p.Asp487Gly)
c.1139A>G (p.Asp380Gly)
c.1439A>G (p.Asp480Gly)
c.1442A>G (p.Asp481Gly)
c.1121A>G (p.Asp374Gly)
c.1286A>G (p.Asp429Gly)
c.*786A>G (n.*786A>G)
c.953A>G (p.Asp318Gly)
c.1412A>G (p.Asp471Gly)
c.1304A>G (p.Asp435Gly)
c.1457A>G (p.Asp486Gly)
c.1409A>G (p.Asp470Gly)
c.1292A>G (p.Asp431Gly)
c.1274A>G (p.Asp425Gly)
3g.69965127A>TCA353559896MITFc.1394A>T (p.Asp465Val)
c.1391A>T (p.Asp464Val)
n.1616A>T
c.1367A>T (p.Asp456Val)
c.*205A>T (n.*205A>T)
c.1460A>T (p.Asp487Val)
c.1139A>T (p.Asp380Val)
c.1439A>T (p.Asp480Val)
c.1442A>T (p.Asp481Val)
c.1121A>T (p.Asp374Val)
c.1286A>T (p.Asp429Val)
c.*786A>T (n.*786A>T)
c.953A>T (p.Asp318Val)
c.1412A>T (p.Asp471Val)
c.1304A>T (p.Asp435Val)
c.1457A>T (p.Asp486Val)
c.1409A>T (p.Asp470Val)
c.1292A>T (p.Asp431Val)
c.1274A>T (p.Asp425Val)
 gnomAD v4
3g.69965128C>ACA353559897MITFc.1395C>A (p.Asp465Glu)
c.1392C>A (p.Asp464Glu)
n.1617C>A
c.1368C>A (p.Asp456Glu)
c.*206C>A (n.*206C>A)
c.1461C>A (p.Asp487Glu)
c.1140C>A (p.Asp380Glu)
c.1440C>A (p.Asp480Glu)
c.1443C>A (p.Asp481Glu)
c.1122C>A (p.Asp374Glu)
c.1287C>A (p.Asp429Glu)
c.*787C>A (n.*787C>A)
c.954C>A (p.Asp318Glu)
c.1413C>A (p.Asp471Glu)
c.1305C>A (p.Asp435Glu)
c.1458C>A (p.Asp486Glu)
c.1410C>A (p.Asp470Glu)
c.1293C>A (p.Asp431Glu)
c.1275C>A (p.Asp425Glu)
3g.69965128C=CA1373414379MITFc.1395C= (p.Asp465=)
c.1392C= (p.Asp464=)
n.1617C=
c.1368C= (p.Asp456=)
c.*206C= (n.*206C=)
c.1461C= (p.Asp487=)
c.1140C= (p.Asp380=)
c.1440C= (p.Asp480=)
c.1443C= (p.Asp481=)
c.1122C= (p.Asp374=)
c.1287C= (p.Asp429=)
c.*787C= (n.*787C=)
c.954C= (p.Asp318=)
c.1413C= (p.Asp471=)
c.1305C= (p.Asp435=)
c.1458C= (p.Asp486=)
c.1410C= (p.Asp470=)
c.1293C= (p.Asp431=)
c.1275C= (p.Asp425=)
3g.69965128C>GCA353559898MITFc.1395C>G (p.Asp465Glu)
c.1392C>G (p.Asp464Glu)
n.1617C>G
c.1368C>G (p.Asp456Glu)
c.*206C>G (n.*206C>G)
c.1461C>G (p.Asp487Glu)
c.1140C>G (p.Asp380Glu)
c.1440C>G (p.Asp480Glu)
c.1443C>G (p.Asp481Glu)
c.1122C>G (p.Asp374Glu)
c.1287C>G (p.Asp429Glu)
c.*787C>G (n.*787C>G)
c.954C>G (p.Asp318Glu)
c.1413C>G (p.Asp471Glu)
c.1305C>G (p.Asp435Glu)
c.1458C>G (p.Asp486Glu)
c.1410C>G (p.Asp470Glu)
c.1293C>G (p.Asp431Glu)
c.1275C>G (p.Asp425Glu)
3g.69965128C>TCA2490672MITFc.1395C>T (p.Asp465=)
c.1392C>T (p.Asp464=)
n.1617C>T
c.1368C>T (p.Asp456=)
c.*206C>T (n.*206C>T)
c.1461C>T (p.Asp487=)
c.1140C>T (p.Asp380=)
c.1440C>T (p.Asp480=)
c.1443C>T (p.Asp481=)
c.1122C>T (p.Asp374=)
c.1287C>T (p.Asp429=)
c.*787C>T (n.*787C>T)
c.954C>T (p.Asp318=)
c.1413C>T (p.Asp471=)
c.1305C>T (p.Asp435=)
c.1458C>T (p.Asp486=)
c.1410C>T (p.Asp470=)
c.1293C>T (p.Asp431=)
c.1275C>T (p.Asp425=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.69965129G>ACA2490673MITFc.1396G>A (p.Asp466Asn)
c.1393G>A (p.Asp465Asn)
n.1618G>A
c.1369G>A (p.Asp457Asn)
c.*207G>A (n.*207G>A)
c.1462G>A (p.Asp488Asn)
c.1141G>A (p.Asp381Asn)
c.1441G>A (p.Asp481Asn)
c.1444G>A (p.Asp482Asn)
c.1123G>A (p.Asp375Asn)
c.1288G>A (p.Asp430Asn)
c.*788G>A (n.*788G>A)
c.955G>A (p.Asp319Asn)
c.1414G>A (p.Asp472Asn)
c.1306G>A (p.Asp436Asn)
c.1459G>A (p.Asp487Asn)
c.1411G>A (p.Asp471Asn)
c.1294G>A (p.Asp432Asn)
c.1276G>A (p.Asp426Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
3g.69965129G>CCA353559899MITFc.1396G>C (p.Asp466His)
c.1393G>C (p.Asp465His)
n.1618G>C
c.1369G>C (p.Asp457His)
c.*207G>C (n.*207G>C)
c.1462G>C (p.Asp488His)
c.1141G>C (p.Asp381His)
c.1441G>C (p.Asp481His)
c.1444G>C (p.Asp482His)
c.1123G>C (p.Asp375His)
c.1288G>C (p.Asp430His)
c.*788G>C (n.*788G>C)
c.955G>C (p.Asp319His)
c.1414G>C (p.Asp472His)
c.1306G>C (p.Asp436His)
c.1459G>C (p.Asp487His)
c.1411G>C (p.Asp471His)
c.1294G>C (p.Asp432His)
c.1276G>C (p.Asp426His)
 dbSNP
3g.69965129G=CA1373414382MITFc.1396G= (p.Asp466=)
c.1393G= (p.Asp465=)
n.1618G=
c.1369G= (p.Asp457=)
c.*207G= (n.*207G=)
c.1462G= (p.Asp488=)
c.1141G= (p.Asp381=)
c.1441G= (p.Asp481=)
c.1444G= (p.Asp482=)
c.1123G= (p.Asp375=)
c.1288G= (p.Asp430=)
c.*788G= (n.*788G=)
c.955G= (p.Asp319=)
c.1414G= (p.Asp472=)
c.1306G= (p.Asp436=)
c.1459G= (p.Asp487=)
c.1411G= (p.Asp471=)
c.1294G= (p.Asp432=)
c.1276G= (p.Asp426=)
3g.69965129G>TCA353559900MITFc.1396G>T (p.Asp466Tyr)
c.1393G>T (p.Asp465Tyr)
n.1618G>T
c.1369G>T (p.Asp457Tyr)
c.*207G>T (n.*207G>T)
c.1462G>T (p.Asp488Tyr)
c.1141G>T (p.Asp381Tyr)
c.1441G>T (p.Asp481Tyr)
c.1444G>T (p.Asp482Tyr)
c.1123G>T (p.Asp375Tyr)
c.1288G>T (p.Asp430Tyr)
c.*788G>T (n.*788G>T)
c.955G>T (p.Asp319Tyr)
c.1414G>T (p.Asp472Tyr)
c.1306G>T (p.Asp436Tyr)
c.1459G>T (p.Asp487Tyr)
c.1411G>T (p.Asp471Tyr)
c.1294G>T (p.Asp432Tyr)
c.1276G>T (p.Asp426Tyr)
3g.69965130A=CA1373414388MITFc.1397A= (p.Asp466=)
c.1394A= (p.Asp465=)
n.1619A=
c.1370A= (p.Asp457=)
c.*208A= (n.*208A=)
c.1463A= (p.Asp488=)
c.1142A= (p.Asp381=)
c.1442A= (p.Asp481=)
c.1445A= (p.Asp482=)
c.1124A= (p.Asp375=)
c.1289A= (p.Asp430=)
c.*789A= (n.*789A=)
c.956A= (p.Asp319=)
c.1415A= (p.Asp472=)
c.1307A= (p.Asp436=)
c.1460A= (p.Asp487=)
c.1412A= (p.Asp471=)
c.1295A= (p.Asp432=)
c.1277A= (p.Asp426=)
3g.69965130A>CCA353559901MITFc.1397A>C (p.Asp466Ala)
c.1394A>C (p.Asp465Ala)
n.1619A>C
c.1370A>C (p.Asp457Ala)
c.*208A>C (n.*208A>C)
c.1463A>C (p.Asp488Ala)
c.1142A>C (p.Asp381Ala)
c.1442A>C (p.Asp481Ala)
c.1445A>C (p.Asp482Ala)
c.1124A>C (p.Asp375Ala)
c.1289A>C (p.Asp430Ala)
c.*789A>C (n.*789A>C)
c.956A>C (p.Asp319Ala)
c.1415A>C (p.Asp472Ala)
c.1307A>C (p.Asp436Ala)
c.1460A>C (p.Asp487Ala)
c.1412A>C (p.Asp471Ala)
c.1295A>C (p.Asp432Ala)
c.1277A>C (p.Asp426Ala)
3g.69965130A>GCA353559902MITFc.1397A>G (p.Asp466Gly)
c.1394A>G (p.Asp465Gly)
n.1619A>G
c.1370A>G (p.Asp457Gly)
c.*208A>G (n.*208A>G)
c.1463A>G (p.Asp488Gly)
c.1142A>G (p.Asp381Gly)
c.1442A>G (p.Asp481Gly)
c.1445A>G (p.Asp482Gly)
c.1124A>G (p.Asp375Gly)
c.1289A>G (p.Asp430Gly)
c.*789A>G (n.*789A>G)
c.956A>G (p.Asp319Gly)
c.1415A>G (p.Asp472Gly)
c.1307A>G (p.Asp436Gly)
c.1460A>G (p.Asp487Gly)
c.1412A>G (p.Asp471Gly)
c.1295A>G (p.Asp432Gly)
c.1277A>G (p.Asp426Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.69965130A>TCA353559903MITFc.1397A>T (p.Asp466Val)
c.1394A>T (p.Asp465Val)
n.1619A>T
c.1370A>T (p.Asp457Val)
c.*208A>T (n.*208A>T)
c.1463A>T (p.Asp488Val)
c.1142A>T (p.Asp381Val)
c.1442A>T (p.Asp481Val)
c.1445A>T (p.Asp482Val)
c.1124A>T (p.Asp375Val)
c.1289A>T (p.Asp430Val)
c.*789A>T (n.*789A>T)
c.956A>T (p.Asp319Val)
c.1415A>T (p.Asp472Val)
c.1307A>T (p.Asp436Val)
c.1460A>T (p.Asp487Val)
c.1412A>T (p.Asp471Val)
c.1295A>T (p.Asp432Val)
c.1277A>T (p.Asp426Val)
3g.69965131C>ACA2490674MITFc.1398C>A (p.Asp466Glu)
c.1395C>A (p.Asp465Glu)
n.1620C>A
c.1371C>A (p.Asp457Glu)
c.*209C>A (n.*209C>A)
c.1464C>A (p.Asp488Glu)
c.1143C>A (p.Asp381Glu)
c.1443C>A (p.Asp481Glu)
c.1446C>A (p.Asp482Glu)
c.1125C>A (p.Asp375Glu)
c.1290C>A (p.Asp430Glu)
c.*790C>A (n.*790C>A)
c.957C>A (p.Asp319Glu)
c.1416C>A (p.Asp472Glu)
c.1308C>A (p.Asp436Glu)
c.1461C>A (p.Asp487Glu)
c.1413C>A (p.Asp471Glu)
c.1296C>A (p.Asp432Glu)
c.1278C>A (p.Asp426Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.69965131C=CA1373414391MITFc.1398C= (p.Asp466=)
c.1395C= (p.Asp465=)
n.1620C=
c.1371C= (p.Asp457=)
c.*209C= (n.*209C=)
c.1464C= (p.Asp488=)
c.1143C= (p.Asp381=)
c.1443C= (p.Asp481=)
c.1446C= (p.Asp482=)
c.1125C= (p.Asp375=)
c.1290C= (p.Asp430=)
c.*790C= (n.*790C=)
c.957C= (p.Asp319=)
c.1416C= (p.Asp472=)
c.1308C= (p.Asp436=)
c.1461C= (p.Asp487=)
c.1413C= (p.Asp471=)
c.1296C= (p.Asp432=)
c.1278C= (p.Asp426=)
3g.69965131C>GCA353559904MITFc.1398C>G (p.Asp466Glu)
c.1395C>G (p.Asp465Glu)
n.1620C>G
c.1371C>G (p.Asp457Glu)
c.*209C>G (n.*209C>G)
c.1464C>G (p.Asp488Glu)
c.1143C>G (p.Asp381Glu)
c.1443C>G (p.Asp481Glu)
c.1446C>G (p.Asp482Glu)
c.1125C>G (p.Asp375Glu)
c.1290C>G (p.Asp430Glu)
c.*790C>G (n.*790C>G)
c.957C>G (p.Asp319Glu)
c.1416C>G (p.Asp472Glu)
c.1308C>G (p.Asp436Glu)
c.1461C>G (p.Asp487Glu)
c.1413C>G (p.Asp471Glu)
c.1296C>G (p.Asp432Glu)
c.1278C>G (p.Asp426Glu)
3g.69965131C>TCA2490675MITFc.1398C>T (p.Asp466=)
c.1395C>T (p.Asp465=)
n.1620C>T
c.1371C>T (p.Asp457=)
c.*209C>T (n.*209C>T)
c.1464C>T (p.Asp488=)
c.1143C>T (p.Asp381=)
c.1443C>T (p.Asp481=)
c.1446C>T (p.Asp482=)
c.1125C>T (p.Asp375=)
c.1290C>T (p.Asp430=)
c.*790C>T (n.*790C>T)
c.957C>T (p.Asp319=)
c.1416C>T (p.Asp472=)
c.1308C>T (p.Asp436=)
c.1461C>T (p.Asp487=)
c.1413C>T (p.Asp471=)
c.1296C>T (p.Asp432=)
c.1278C>T (p.Asp426=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.69965132A=CA1373414396MITFc.1399A= (p.Thr467=)
c.1396A= (p.Thr466=)
n.1621A=
c.1372A= (p.Thr458=)
c.*210A= (n.*210A=)
c.1465A= (p.Thr489=)
c.1144A= (p.Thr382=)
c.1444A= (p.Thr482=)
c.1447A= (p.Thr483=)
c.1126A= (p.Thr376=)
c.1291A= (p.Thr431=)
c.*791A= (n.*791A=)
c.958A= (p.Thr320=)
c.1417A= (p.Thr473=)
c.1309A= (p.Thr437=)
c.1462A= (p.Thr488=)
c.1414A= (p.Thr472=)
c.1297A= (p.Thr433=)
c.1279A= (p.Thr427=)
3g.69965132A>CCA353559905MITFc.1399A>C (p.Thr467Pro)
c.1396A>C (p.Thr466Pro)
n.1621A>C
c.1372A>C (p.Thr458Pro)
c.*210A>C (n.*210A>C)
c.1465A>C (p.Thr489Pro)
c.1144A>C (p.Thr382Pro)
c.1444A>C (p.Thr482Pro)
c.1447A>C (p.Thr483Pro)
c.1126A>C (p.Thr376Pro)
c.1291A>C (p.Thr431Pro)
c.*791A>C (n.*791A>C)
c.958A>C (p.Thr320Pro)
c.1417A>C (p.Thr473Pro)
c.1309A>C (p.Thr437Pro)
c.1462A>C (p.Thr488Pro)
c.1414A>C (p.Thr472Pro)
c.1297A>C (p.Thr433Pro)
c.1279A>C (p.Thr427Pro)
3g.69965132A>GCA353559906MITFc.1399A>G (p.Thr467Ala)
c.1396A>G (p.Thr466Ala)
n.1621A>G
c.1372A>G (p.Thr458Ala)
c.*210A>G (n.*210A>G)
c.1465A>G (p.Thr489Ala)
c.1144A>G (p.Thr382Ala)
c.1444A>G (p.Thr482Ala)
c.1447A>G (p.Thr483Ala)
c.1126A>G (p.Thr376Ala)
c.1291A>G (p.Thr431Ala)
c.*791A>G (n.*791A>G)
c.958A>G (p.Thr320Ala)
c.1417A>G (p.Thr473Ala)
c.1309A>G (p.Thr437Ala)
c.1462A>G (p.Thr488Ala)
c.1414A>G (p.Thr472Ala)
c.1297A>G (p.Thr433Ala)
c.1279A>G (p.Thr427Ala)
3g.69965132A>TCA353559907MITFc.1399A>T (p.Thr467Ser)
c.1396A>T (p.Thr466Ser)
n.1621A>T
c.1372A>T (p.Thr458Ser)
c.*210A>T (n.*210A>T)
c.1465A>T (p.Thr489Ser)
c.1144A>T (p.Thr382Ser)
c.1444A>T (p.Thr482Ser)
c.1447A>T (p.Thr483Ser)
c.1126A>T (p.Thr376Ser)
c.1291A>T (p.Thr431Ser)
c.*791A>T (n.*791A>T)
c.958A>T (p.Thr320Ser)
c.1417A>T (p.Thr473Ser)
c.1309A>T (p.Thr437Ser)
c.1462A>T (p.Thr488Ser)
c.1414A>T (p.Thr472Ser)
c.1297A>T (p.Thr433Ser)
c.1279A>T (p.Thr427Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.69965133C>ACA353559908MITFc.1400C>A (p.Thr467Asn)
c.1397C>A (p.Thr466Asn)
n.1622C>A
c.1373C>A (p.Thr458Asn)
c.*211C>A (n.*211C>A)
c.1466C>A (p.Thr489Asn)
c.1145C>A (p.Thr382Asn)
c.1445C>A (p.Thr482Asn)
c.1448C>A (p.Thr483Asn)
c.1127C>A (p.Thr376Asn)
c.1292C>A (p.Thr431Asn)
c.*792C>A (n.*792C>A)
c.959C>A (p.Thr320Asn)
c.1418C>A (p.Thr473Asn)
c.1310C>A (p.Thr437Asn)
c.1463C>A (p.Thr488Asn)
c.1415C>A (p.Thr472Asn)
c.1298C>A (p.Thr433Asn)
c.1280C>A (p.Thr427Asn)
3g.69965133C=CA1373414400MITFc.1400C= (p.Thr467=)
c.1397C= (p.Thr466=)
n.1622C=
c.1373C= (p.Thr458=)
c.*211C= (n.*211C=)
c.1466C= (p.Thr489=)
c.1145C= (p.Thr382=)
c.1445C= (p.Thr482=)
c.1448C= (p.Thr483=)
c.1127C= (p.Thr376=)
c.1292C= (p.Thr431=)
c.*792C= (n.*792C=)
c.959C= (p.Thr320=)
c.1418C= (p.Thr473=)
c.1310C= (p.Thr437=)
c.1463C= (p.Thr488=)
c.1415C= (p.Thr472=)
c.1298C= (p.Thr433=)
c.1280C= (p.Thr427=)
3g.69965133C>GCA353559909MITFc.1400C>G (p.Thr467Ser)
c.1397C>G (p.Thr466Ser)
n.1622C>G
c.1373C>G (p.Thr458Ser)
c.*211C>G (n.*211C>G)
c.1466C>G (p.Thr489Ser)
c.1145C>G (p.Thr382Ser)
c.1445C>G (p.Thr482Ser)
c.1448C>G (p.Thr483Ser)
c.1127C>G (p.Thr376Ser)
c.1292C>G (p.Thr431Ser)
c.*792C>G (n.*792C>G)
c.959C>G (p.Thr320Ser)
c.1418C>G (p.Thr473Ser)
c.1310C>G (p.Thr437Ser)
c.1463C>G (p.Thr488Ser)
c.1415C>G (p.Thr472Ser)
c.1298C>G (p.Thr433Ser)
c.1280C>G (p.Thr427Ser)
 ClinVar
3g.69965133C>TCA2490676MITFc.1400C>T (p.Thr467Ile)
c.1397C>T (p.Thr466Ile)
n.1622C>T
c.1373C>T (p.Thr458Ile)
c.*211C>T (n.*211C>T)
c.1466C>T (p.Thr489Ile)
c.1145C>T (p.Thr382Ile)
c.1445C>T (p.Thr482Ile)
c.1448C>T (p.Thr483Ile)
c.1127C>T (p.Thr376Ile)
c.1292C>T (p.Thr431Ile)
c.*792C>T (n.*792C>T)
c.959C>T (p.Thr320Ile)
c.1418C>T (p.Thr473Ile)
c.1310C>T (p.Thr437Ile)
c.1463C>T (p.Thr488Ile)
c.1415C>T (p.Thr472Ile)
c.1298C>T (p.Thr433Ile)
c.1280C>T (p.Thr427Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.69965134C>ACA434433809MITFc.1401C>A (p.Thr467=)
c.1398C>A (p.Thr466=)
n.1623C>A
c.1374C>A (p.Thr458=)
c.*212C>A (n.*212C>A)
c.1467C>A (p.Thr489=)
c.1146C>A (p.Thr382=)
c.1446C>A (p.Thr482=)
c.1449C>A (p.Thr483=)
c.1128C>A (p.Thr376=)
c.1293C>A (p.Thr431=)
c.*793C>A (n.*793C>A)
c.960C>A (p.Thr320=)
c.1419C>A (p.Thr473=)
c.1311C>A (p.Thr437=)
c.1464C>A (p.Thr488=)
c.1416C>A (p.Thr472=)
c.1299C>A (p.Thr433=)
c.1281C>A (p.Thr427=)
 dbSNP
3g.69965134C>GCA434433810MITFc.1401C>G (p.Thr467=)
c.1398C>G (p.Thr466=)
n.1623C>G
c.1374C>G (p.Thr458=)
c.*212C>G (n.*212C>G)
c.1467C>G (p.Thr489=)
c.1146C>G (p.Thr382=)
c.1446C>G (p.Thr482=)
c.1449C>G (p.Thr483=)
c.1128C>G (p.Thr376=)
c.1293C>G (p.Thr431=)
c.*793C>G (n.*793C>G)
c.960C>G (p.Thr320=)
c.1419C>G (p.Thr473=)
c.1311C>G (p.Thr437=)
c.1464C>G (p.Thr488=)
c.1416C>G (p.Thr472=)
c.1299C>G (p.Thr433=)
c.1281C>G (p.Thr427=)
 dbSNP
3g.69965134C>TCA434433811MITFc.1401C>T (p.Thr467=)
c.1398C>T (p.Thr466=)
n.1623C>T
c.1374C>T (p.Thr458=)
c.*212C>T (n.*212C>T)
c.1467C>T (p.Thr489=)
c.1146C>T (p.Thr382=)
c.1446C>T (p.Thr482=)
c.1449C>T (p.Thr483=)
c.1128C>T (p.Thr376=)
c.1293C>T (p.Thr431=)
c.*793C>T (n.*793C>T)
c.960C>T (p.Thr320=)
c.1419C>T (p.Thr473=)
c.1311C>T (p.Thr437=)
c.1464C>T (p.Thr488=)
c.1416C>T (p.Thr472=)
c.1299C>T (p.Thr433=)
c.1281C>T (p.Thr427=)
 dbSNP
3g.69965135C>ACA353559910MITFc.1402C>A (p.Leu468Ile)
c.1399C>A (p.Leu467Ile)
n.1624C>A
c.1375C>A (p.Leu459Ile)
c.*213C>A (n.*213C>A)
c.1468C>A (p.Leu490Ile)
c.1147C>A (p.Leu383Ile)
c.1447C>A (p.Leu483Ile)
c.1450C>A (p.Leu484Ile)
c.1129C>A (p.Leu377Ile)
c.1294C>A (p.Leu432Ile)
c.*794C>A (n.*794C>A)
c.961C>A (p.Leu321Ile)
c.1420C>A (p.Leu474Ile)
c.1312C>A (p.Leu438Ile)
c.1465C>A (p.Leu489Ile)
c.1417C>A (p.Leu473Ile)
c.1300C>A (p.Leu434Ile)
c.1282C>A (p.Leu428Ile)
3g.69965135C=CA1373414403MITFc.1402C= (p.Leu468=)
c.1399C= (p.Leu467=)
n.1624C=
c.1375C= (p.Leu459=)
c.*213C= (n.*213C=)
c.1468C= (p.Leu490=)
c.1147C= (p.Leu383=)
c.1447C= (p.Leu483=)
c.1450C= (p.Leu484=)
c.1129C= (p.Leu377=)
c.1294C= (p.Leu432=)
c.*794C= (n.*794C=)
c.961C= (p.Leu321=)
c.1420C= (p.Leu474=)
c.1312C= (p.Leu438=)
c.1465C= (p.Leu489=)
c.1417C= (p.Leu473=)
c.1300C= (p.Leu434=)
c.1282C= (p.Leu428=)
3g.69965135C>GCA353559911MITFc.1402C>G (p.Leu468Val)
c.1399C>G (p.Leu467Val)
n.1624C>G
c.1375C>G (p.Leu459Val)
c.*213C>G (n.*213C>G)
c.1468C>G (p.Leu490Val)
c.1147C>G (p.Leu383Val)
c.1447C>G (p.Leu483Val)
c.1450C>G (p.Leu484Val)
c.1129C>G (p.Leu377Val)
c.1294C>G (p.Leu432Val)
c.*794C>G (n.*794C>G)
c.961C>G (p.Leu321Val)
c.1420C>G (p.Leu474Val)
c.1312C>G (p.Leu438Val)
c.1465C>G (p.Leu489Val)
c.1417C>G (p.Leu473Val)
c.1300C>G (p.Leu434Val)
c.1282C>G (p.Leu428Val)
 dbSNP gnomAD v2 gnomAD v4
3g.69965135C>TCA353559912MITFc.1402C>T (p.Leu468Phe)
c.1399C>T (p.Leu467Phe)
n.1624C>T
c.1375C>T (p.Leu459Phe)
c.*213C>T (n.*213C>T)
c.1468C>T (p.Leu490Phe)
c.1147C>T (p.Leu383Phe)
c.1447C>T (p.Leu483Phe)
c.1450C>T (p.Leu484Phe)
c.1129C>T (p.Leu377Phe)
c.1294C>T (p.Leu432Phe)
c.*794C>T (n.*794C>T)
c.961C>T (p.Leu321Phe)
c.1420C>T (p.Leu474Phe)
c.1312C>T (p.Leu438Phe)
c.1465C>T (p.Leu489Phe)
c.1417C>T (p.Leu473Phe)
c.1300C>T (p.Leu434Phe)
c.1282C>T (p.Leu428Phe)
 dbSNP COSMIC COSMIC COSMIC COSMIC
3g.69965136T>ACA353559914MITFc.1403T>A (p.Leu468His)
c.1400T>A (p.Leu467His)
n.1625T>A
c.1376T>A (p.Leu459His)
c.*214T>A (n.*214T>A)
c.1469T>A (p.Leu490His)
c.1148T>A (p.Leu383His)
c.1448T>A (p.Leu483His)
c.1451T>A (p.Leu484His)
c.1130T>A (p.Leu377His)
c.1295T>A (p.Leu432His)
c.*795T>A (n.*795T>A)
c.962T>A (p.Leu321His)
c.1421T>A (p.Leu474His)
c.1313T>A (p.Leu438His)
c.1466T>A (p.Leu489His)
c.1418T>A (p.Leu473His)
c.1301T>A (p.Leu434His)
c.1283T>A (p.Leu428His)
3g.69965136T>CCA353559915MITFc.1403T>C (p.Leu468Pro)
c.1400T>C (p.Leu467Pro)
n.1625T>C
c.1376T>C (p.Leu459Pro)
c.*214T>C (n.*214T>C)
c.1469T>C (p.Leu490Pro)
c.1148T>C (p.Leu383Pro)
c.1448T>C (p.Leu483Pro)
c.1451T>C (p.Leu484Pro)
c.1130T>C (p.Leu377Pro)
c.1295T>C (p.Leu432Pro)
c.*795T>C (n.*795T>C)
c.962T>C (p.Leu321Pro)
c.1421T>C (p.Leu474Pro)
c.1313T>C (p.Leu438Pro)
c.1466T>C (p.Leu489Pro)
c.1418T>C (p.Leu473Pro)
c.1301T>C (p.Leu434Pro)
c.1283T>C (p.Leu428Pro)
3g.69965136T>GCA353559913MITFc.1403T>G (p.Leu468Arg)
c.1400T>G (p.Leu467Arg)
n.1625T>G
c.1376T>G (p.Leu459Arg)
c.*214T>G (n.*214T>G)
c.1469T>G (p.Leu490Arg)
c.1148T>G (p.Leu383Arg)
c.1448T>G (p.Leu483Arg)
c.1451T>G (p.Leu484Arg)
c.1130T>G (p.Leu377Arg)
c.1295T>G (p.Leu432Arg)
c.*795T>G (n.*795T>G)
c.962T>G (p.Leu321Arg)
c.1421T>G (p.Leu474Arg)
c.1313T>G (p.Leu438Arg)
c.1466T>G (p.Leu489Arg)
c.1418T>G (p.Leu473Arg)
c.1301T>G (p.Leu434Arg)
c.1283T>G (p.Leu428Arg)
3g.69965137T>ACA434433814MITFc.1404T>A (p.Leu468=)
c.1401T>A (p.Leu467=)
n.1626T>A
c.1377T>A (p.Leu459=)
c.*215T>A (n.*215T>A)
c.1470T>A (p.Leu490=)
c.1149T>A (p.Leu383=)
c.1449T>A (p.Leu483=)
c.1452T>A (p.Leu484=)
c.1131T>A (p.Leu377=)
c.1296T>A (p.Leu432=)
c.*796T>A (n.*796T>A)
c.963T>A (p.Leu321=)
c.1422T>A (p.Leu474=)
c.1314T>A (p.Leu438=)
c.1467T>A (p.Leu489=)
c.1419T>A (p.Leu473=)
c.1302T>A (p.Leu434=)
c.1284T>A (p.Leu428=)
3g.69965137T>CCA434433812MITFc.1404T>C (p.Leu468=)
c.1401T>C (p.Leu467=)
n.1626T>C
c.1377T>C (p.Leu459=)
c.*215T>C (n.*215T>C)
c.1470T>C (p.Leu490=)
c.1149T>C (p.Leu383=)
c.1449T>C (p.Leu483=)
c.1452T>C (p.Leu484=)
c.1131T>C (p.Leu377=)
c.1296T>C (p.Leu432=)
c.*796T>C (n.*796T>C)
c.963T>C (p.Leu321=)
c.1422T>C (p.Leu474=)
c.1314T>C (p.Leu438=)
c.1467T>C (p.Leu489=)
c.1419T>C (p.Leu473=)
c.1302T>C (p.Leu434=)
c.1284T>C (p.Leu428=)
 gnomAD v4
3g.69965137T>GCA434433813MITFc.1404T>G (p.Leu468=)
c.1401T>G (p.Leu467=)
n.1626T>G
c.1377T>G (p.Leu459=)
c.*215T>G (n.*215T>G)
c.1470T>G (p.Leu490=)
c.1149T>G (p.Leu383=)
c.1449T>G (p.Leu483=)
c.1452T>G (p.Leu484=)
c.1131T>G (p.Leu377=)
c.1296T>G (p.Leu432=)
c.*796T>G (n.*796T>G)
c.963T>G (p.Leu321=)
c.1422T>G (p.Leu474=)
c.1314T>G (p.Leu438=)
c.1467T>G (p.Leu489=)
c.1419T>G (p.Leu473=)
c.1302T>G (p.Leu434=)
c.1284T>G (p.Leu428=)
3g.69965138T>ACA353559916MITFc.1405T>A (p.Ser469Thr)
c.1402T>A (p.Ser468Thr)
n.1627T>A
c.1378T>A (p.Ser460Thr)
c.*216T>A (n.*216T>A)
c.1471T>A (p.Ser491Thr)
c.1150T>A (p.Ser384Thr)
c.1450T>A (p.Ser484Thr)
c.1453T>A (p.Ser485Thr)
c.1132T>A (p.Ser378Thr)
c.1297T>A (p.Ser433Thr)
c.*797T>A (n.*797T>A)
c.964T>A (p.Ser322Thr)
c.1423T>A (p.Ser475Thr)
c.1315T>A (p.Ser439Thr)
c.1468T>A (p.Ser490Thr)
c.1420T>A (p.Ser474Thr)
c.1303T>A (p.Ser435Thr)
c.1285T>A (p.Ser429Thr)
3g.69965138T>CCA353559917MITFc.1405T>C (p.Ser469Pro)
c.1402T>C (p.Ser468Pro)
n.1627T>C
c.1378T>C (p.Ser460Pro)
c.*216T>C (n.*216T>C)
c.1471T>C (p.Ser491Pro)
c.1150T>C (p.Ser384Pro)
c.1450T>C (p.Ser484Pro)
c.1453T>C (p.Ser485Pro)
c.1132T>C (p.Ser378Pro)
c.1297T>C (p.Ser433Pro)
c.*797T>C (n.*797T>C)
c.964T>C (p.Ser322Pro)
c.1423T>C (p.Ser475Pro)
c.1315T>C (p.Ser439Pro)
c.1468T>C (p.Ser490Pro)
c.1420T>C (p.Ser474Pro)
c.1303T>C (p.Ser435Pro)
c.1285T>C (p.Ser429Pro)
3g.69965138T>GCA353559918MITFc.1405T>G (p.Ser469Ala)
c.1402T>G (p.Ser468Ala)
n.1627T>G
c.1378T>G (p.Ser460Ala)
c.*216T>G (n.*216T>G)
c.1471T>G (p.Ser491Ala)
c.1150T>G (p.Ser384Ala)
c.1450T>G (p.Ser484Ala)
c.1453T>G (p.Ser485Ala)
c.1132T>G (p.Ser378Ala)
c.1297T>G (p.Ser433Ala)
c.*797T>G (n.*797T>G)
c.964T>G (p.Ser322Ala)
c.1423T>G (p.Ser475Ala)
c.1315T>G (p.Ser439Ala)
c.1468T>G (p.Ser490Ala)
c.1420T>G (p.Ser474Ala)
c.1303T>G (p.Ser435Ala)
c.1285T>G (p.Ser429Ala)
3g.69965139C>ACA353559919MITFc.1406C>A (p.Ser469Tyr)
c.1403C>A (p.Ser468Tyr)
n.1628C>A
c.1379C>A (p.Ser460Tyr)
c.*217C>A (n.*217C>A)
c.1472C>A (p.Ser491Tyr)
c.1151C>A (p.Ser384Tyr)
c.1451C>A (p.Ser484Tyr)
c.1454C>A (p.Ser485Tyr)
c.1133C>A (p.Ser378Tyr)
c.1298C>A (p.Ser433Tyr)
c.*798C>A (n.*798C>A)
c.965C>A (p.Ser322Tyr)
c.1424C>A (p.Ser475Tyr)
c.1316C>A (p.Ser439Tyr)
c.1469C>A (p.Ser490Tyr)
c.1421C>A (p.Ser474Tyr)
c.1304C>A (p.Ser435Tyr)
c.1286C>A (p.Ser429Tyr)
 gnomAD v4
3g.69965139C>GCA353559920MITFc.1406C>G (p.Ser469Cys)
c.1403C>G (p.Ser468Cys)
n.1628C>G
c.1379C>G (p.Ser460Cys)
c.*217C>G (n.*217C>G)
c.1472C>G (p.Ser491Cys)
c.1151C>G (p.Ser384Cys)
c.1451C>G (p.Ser484Cys)
c.1454C>G (p.Ser485Cys)
c.1133C>G (p.Ser378Cys)
c.1298C>G (p.Ser433Cys)
c.*798C>G (n.*798C>G)
c.965C>G (p.Ser322Cys)
c.1424C>G (p.Ser475Cys)
c.1316C>G (p.Ser439Cys)
c.1469C>G (p.Ser490Cys)
c.1421C>G (p.Ser474Cys)
c.1304C>G (p.Ser435Cys)
c.1286C>G (p.Ser429Cys)
3g.69965139C>TCA353559921MITFc.1406C>T (p.Ser469Phe)
c.1403C>T (p.Ser468Phe)
n.1628C>T
c.1379C>T (p.Ser460Phe)
c.*217C>T (n.*217C>T)
c.1472C>T (p.Ser491Phe)
c.1151C>T (p.Ser384Phe)
c.1451C>T (p.Ser484Phe)
c.1454C>T (p.Ser485Phe)
c.1133C>T (p.Ser378Phe)
c.1298C>T (p.Ser433Phe)
c.*798C>T (n.*798C>T)
c.965C>T (p.Ser322Phe)
c.1424C>T (p.Ser475Phe)
c.1316C>T (p.Ser439Phe)
c.1469C>T (p.Ser490Phe)
c.1421C>T (p.Ser474Phe)
c.1304C>T (p.Ser435Phe)
c.1286C>T (p.Ser429Phe)
 dbSNP
3g.69965140T>ACA434433815MITFc.1407T>A (p.Ser469=)
c.1404T>A (p.Ser468=)
n.1629T>A
c.1380T>A (p.Ser460=)
c.*218T>A (n.*218T>A)
c.1473T>A (p.Ser491=)
c.1152T>A (p.Ser384=)
c.1452T>A (p.Ser484=)
c.1455T>A (p.Ser485=)
c.1134T>A (p.Ser378=)
c.1299T>A (p.Ser433=)
c.*799T>A (n.*799T>A)
c.966T>A (p.Ser322=)
c.1425T>A (p.Ser475=)
c.1317T>A (p.Ser439=)
c.1470T>A (p.Ser490=)
c.1422T>A (p.Ser474=)
c.1305T>A (p.Ser435=)
c.1287T>A (p.Ser429=)
3g.69965140T>CCA2490677MITFc.1407T>C (p.Ser469=)
c.1404T>C (p.Ser468=)
n.1629T>C
c.1380T>C (p.Ser460=)
c.*218T>C (n.*218T>C)
c.1473T>C (p.Ser491=)
c.1152T>C (p.Ser384=)
c.1452T>C (p.Ser484=)
c.1455T>C (p.Ser485=)
c.1134T>C (p.Ser378=)
c.1299T>C (p.Ser433=)
c.*799T>C (n.*799T>C)
c.966T>C (p.Ser322=)
c.1425T>C (p.Ser475=)
c.1317T>C (p.Ser439=)
c.1470T>C (p.Ser490=)
c.1422T>C (p.Ser474=)
c.1305T>C (p.Ser435=)
c.1287T>C (p.Ser429=)
 dbSNP ExAC
3g.69965140T>GCA434433816MITFc.1407T>G (p.Ser469=)
c.1404T>G (p.Ser468=)
n.1629T>G
c.1380T>G (p.Ser460=)
c.*218T>G (n.*218T>G)
c.1473T>G (p.Ser491=)
c.1152T>G (p.Ser384=)
c.1452T>G (p.Ser484=)
c.1455T>G (p.Ser485=)
c.1134T>G (p.Ser378=)
c.1299T>G (p.Ser433=)
c.*799T>G (n.*799T>G)
c.966T>G (p.Ser322=)
c.1425T>G (p.Ser475=)
c.1317T>G (p.Ser439=)
c.1470T>G (p.Ser490=)
c.1422T>G (p.Ser474=)
c.1305T>G (p.Ser435=)
c.1287T>G (p.Ser429=)
3g.69965140T=CA1373414406MITFc.1407T= (p.Ser469=)
c.1404T= (p.Ser468=)
n.1629T=
c.1380T= (p.Ser460=)
c.*218T= (n.*218T=)
c.1473T= (p.Ser491=)
c.1152T= (p.Ser384=)
c.1452T= (p.Ser484=)
c.1455T= (p.Ser485=)
c.1134T= (p.Ser378=)
c.1299T= (p.Ser433=)
c.*799T= (n.*799T=)
c.966T= (p.Ser322=)
c.1425T= (p.Ser475=)
c.1317T= (p.Ser439=)
c.1470T= (p.Ser490=)
c.1422T= (p.Ser474=)
c.1305T= (p.Ser435=)
c.1287T= (p.Ser429=)
3g.69965141C>ACA353559922MITFc.1408C>A (p.Pro470Thr)
c.1405C>A (p.Pro469Thr)
n.1630C>A
c.1381C>A (p.Pro461Thr)
c.*219C>A (n.*219C>A)
c.1474C>A (p.Pro492Thr)
c.1153C>A (p.Pro385Thr)
c.1453C>A (p.Pro485Thr)
c.1456C>A (p.Pro486Thr)
c.1135C>A (p.Pro379Thr)
c.1300C>A (p.Pro434Thr)
c.*800C>A (n.*800C>A)
c.967C>A (p.Pro323Thr)
c.1426C>A (p.Pro476Thr)
c.1318C>A (p.Pro440Thr)
c.1471C>A (p.Pro491Thr)
c.1423C>A (p.Pro475Thr)
c.1306C>A (p.Pro436Thr)
c.1288C>A (p.Pro430Thr)
3g.69965141C=CA1373414408MITFc.1408C= (p.Pro470=)
c.1405C= (p.Pro469=)
n.1630C=
c.1381C= (p.Pro461=)
c.*219C= (n.*219C=)
c.1474C= (p.Pro492=)
c.1153C= (p.Pro385=)
c.1453C= (p.Pro485=)
c.1456C= (p.Pro486=)
c.1135C= (p.Pro379=)
c.1300C= (p.Pro434=)
c.*800C= (n.*800C=)
c.967C= (p.Pro323=)
c.1426C= (p.Pro476=)
c.1318C= (p.Pro440=)
c.1471C= (p.Pro491=)
c.1423C= (p.Pro475=)
c.1306C= (p.Pro436=)
c.1288C= (p.Pro430=)
3g.69965141C>GCA353559923MITFc.1408C>G (p.Pro470Ala)
c.1405C>G (p.Pro469Ala)
n.1630C>G
c.1381C>G (p.Pro461Ala)
c.*219C>G (n.*219C>G)
c.1474C>G (p.Pro492Ala)
c.1153C>G (p.Pro385Ala)
c.1453C>G (p.Pro485Ala)
c.1456C>G (p.Pro486Ala)
c.1135C>G (p.Pro379Ala)
c.1300C>G (p.Pro434Ala)
c.*800C>G (n.*800C>G)
c.967C>G (p.Pro323Ala)
c.1426C>G (p.Pro476Ala)
c.1318C>G (p.Pro440Ala)
c.1471C>G (p.Pro491Ala)
c.1423C>G (p.Pro475Ala)
c.1306C>G (p.Pro436Ala)
c.1288C>G (p.Pro430Ala)
 dbSNP gnomAD v2 gnomAD v4
3g.69965141C>TCA2490678MITFc.1408C>T (p.Pro470Ser)
c.1405C>T (p.Pro469Ser)
n.1630C>T
c.1381C>T (p.Pro461Ser)
c.*219C>T (n.*219C>T)
c.1474C>T (p.Pro492Ser)
c.1153C>T (p.Pro385Ser)
c.1453C>T (p.Pro485Ser)
c.1456C>T (p.Pro486Ser)
c.1135C>T (p.Pro379Ser)
c.1300C>T (p.Pro434Ser)
c.*800C>T (n.*800C>T)
c.967C>T (p.Pro323Ser)
c.1426C>T (p.Pro476Ser)
c.1318C>T (p.Pro440Ser)
c.1471C>T (p.Pro491Ser)
c.1423C>T (p.Pro475Ser)
c.1306C>T (p.Pro436Ser)
c.1288C>T (p.Pro430Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.69965142C>ACA353559924MITFc.1409C>A (p.Pro470His)
c.1406C>A (p.Pro469His)
n.1631C>A
c.1382C>A (p.Pro461His)
c.*220C>A (n.*220C>A)
c.1475C>A (p.Pro492His)
c.1154C>A (p.Pro385His)
c.1454C>A (p.Pro485His)
c.1457C>A (p.Pro486His)
c.1136C>A (p.Pro379His)
c.1301C>A (p.Pro434His)
c.*801C>A (n.*801C>A)
c.968C>A (p.Pro323His)
c.1427C>A (p.Pro476His)
c.1319C>A (p.Pro440His)
c.1472C>A (p.Pro491His)
c.1424C>A (p.Pro475His)
c.1307C>A (p.Pro436His)
c.1289C>A (p.Pro430His)
3g.69965142C>GCA353559925MITFc.1409C>G (p.Pro470Arg)
c.1406C>G (p.Pro469Arg)
n.1631C>G
c.1382C>G (p.Pro461Arg)
c.*220C>G (n.*220C>G)
c.1475C>G (p.Pro492Arg)
c.1154C>G (p.Pro385Arg)
c.1454C>G (p.Pro485Arg)
c.1457C>G (p.Pro486Arg)
c.1136C>G (p.Pro379Arg)
c.1301C>G (p.Pro434Arg)
c.*801C>G (n.*801C>G)
c.968C>G (p.Pro323Arg)
c.1427C>G (p.Pro476Arg)
c.1319C>G (p.Pro440Arg)
c.1472C>G (p.Pro491Arg)
c.1424C>G (p.Pro475Arg)
c.1307C>G (p.Pro436Arg)
c.1289C>G (p.Pro430Arg)
3g.69965142C>TCA353559926MITFc.1409C>T (p.Pro470Leu)
c.1406C>T (p.Pro469Leu)
n.1631C>T
c.1382C>T (p.Pro461Leu)
c.*220C>T (n.*220C>T)
c.1475C>T (p.Pro492Leu)
c.1154C>T (p.Pro385Leu)
c.1454C>T (p.Pro485Leu)
c.1457C>T (p.Pro486Leu)
c.1136C>T (p.Pro379Leu)
c.1301C>T (p.Pro434Leu)
c.*801C>T (n.*801C>T)
c.968C>T (p.Pro323Leu)
c.1427C>T (p.Pro476Leu)
c.1319C>T (p.Pro440Leu)
c.1472C>T (p.Pro491Leu)
c.1424C>T (p.Pro475Leu)
c.1307C>T (p.Pro436Leu)
c.1289C>T (p.Pro430Leu)
3g.69965143C>ACA434433818MITFc.1410C>A (p.Pro470=)
c.1407C>A (p.Pro469=)
n.1632C>A
c.1383C>A (p.Pro461=)
c.*221C>A (n.*221C>A)
c.1476C>A (p.Pro492=)
c.1155C>A (p.Pro385=)
c.1455C>A (p.Pro485=)
c.1458C>A (p.Pro486=)
c.1137C>A (p.Pro379=)
c.1302C>A (p.Pro434=)
c.*802C>A (n.*802C>A)
c.969C>A (p.Pro323=)
c.1428C>A (p.Pro476=)
c.1320C>A (p.Pro440=)
c.1473C>A (p.Pro491=)
c.1425C>A (p.Pro475=)
c.1308C>A (p.Pro436=)
c.1290C>A (p.Pro430=)
 gnomAD v4
3g.69965143C=CA1373414412MITFc.1410C= (p.Pro470=)
c.1407C= (p.Pro469=)
n.1632C=
c.1383C= (p.Pro461=)
c.*221C= (n.*221C=)
c.1476C= (p.Pro492=)
c.1155C= (p.Pro385=)
c.1455C= (p.Pro485=)
c.1458C= (p.Pro486=)
c.1137C= (p.Pro379=)
c.1302C= (p.Pro434=)
c.*802C= (n.*802C=)
c.969C= (p.Pro323=)
c.1428C= (p.Pro476=)
c.1320C= (p.Pro440=)
c.1473C= (p.Pro491=)
c.1425C= (p.Pro475=)
c.1308C= (p.Pro436=)
c.1290C= (p.Pro430=)
3g.69965143C>GCA434433817MITFc.1410C>G (p.Pro470=)
c.1407C>G (p.Pro469=)
n.1632C>G
c.1383C>G (p.Pro461=)
c.*221C>G (n.*221C>G)
c.1476C>G (p.Pro492=)
c.1155C>G (p.Pro385=)
c.1455C>G (p.Pro485=)
c.1458C>G (p.Pro486=)
c.1137C>G (p.Pro379=)
c.1302C>G (p.Pro434=)
c.*802C>G (n.*802C>G)
c.969C>G (p.Pro323=)
c.1428C>G (p.Pro476=)
c.1320C>G (p.Pro440=)
c.1473C>G (p.Pro491=)
c.1425C>G (p.Pro475=)
c.1308C>G (p.Pro436=)
c.1290C>G (p.Pro430=)
3g.69965143C>TCA2490679MITFc.1410C>T (p.Pro470=)
c.1407C>T (p.Pro469=)
n.1632C>T
c.1383C>T (p.Pro461=)
c.*221C>T (n.*221C>T)
c.1476C>T (p.Pro492=)
c.1155C>T (p.Pro385=)
c.1455C>T (p.Pro485=)
c.1458C>T (p.Pro486=)
c.1137C>T (p.Pro379=)
c.1302C>T (p.Pro434=)
c.*802C>T (n.*802C>T)
c.969C>T (p.Pro323=)
c.1428C>T (p.Pro476=)
c.1320C>T (p.Pro440=)
c.1473C>T (p.Pro491=)
c.1425C>T (p.Pro475=)
c.1308C>T (p.Pro436=)
c.1290C>T (p.Pro430=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.69965144G>ACA2490680MITFc.1411G>A (p.Val471Ile)
c.1408G>A (p.Val470Ile)
n.1633G>A
c.1384G>A (p.Val462Ile)
c.*222G>A (n.*222G>A)
c.1477G>A (p.Val493Ile)
c.1156G>A (p.Val386Ile)
c.1456G>A (p.Val486Ile)
c.1459G>A (p.Val487Ile)
c.1138G>A (p.Val380Ile)
c.1303G>A (p.Val435Ile)
c.*803G>A (n.*803G>A)
c.970G>A (p.Val324Ile)
c.1429G>A (p.Val477Ile)
c.1321G>A (p.Val441Ile)
c.1474G>A (p.Val492Ile)
c.1426G>A (p.Val476Ile)
c.1309G>A (p.Val437Ile)
c.1291G>A (p.Val431Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
3g.69965144G>CCA77003528MITFc.1411G>C (p.Val471Leu)
c.1408G>C (p.Val470Leu)
n.1633G>C
c.1384G>C (p.Val462Leu)
c.*222G>C (n.*222G>C)
c.1477G>C (p.Val493Leu)
c.1156G>C (p.Val386Leu)
c.1456G>C (p.Val486Leu)
c.1459G>C (p.Val487Leu)
c.1138G>C (p.Val380Leu)
c.1303G>C (p.Val435Leu)
c.*803G>C (n.*803G>C)
c.970G>C (p.Val324Leu)
c.1429G>C (p.Val477Leu)
c.1321G>C (p.Val441Leu)
c.1474G>C (p.Val492Leu)
c.1426G>C (p.Val476Leu)
c.1309G>C (p.Val437Leu)
c.1291G>C (p.Val431Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.69965144G=CA1373414416MITFc.1411G= (p.Val471=)
c.1408G= (p.Val470=)
n.1633G=
c.1384G= (p.Val462=)
c.*222G= (n.*222G=)
c.1477G= (p.Val493=)
c.1156G= (p.Val386=)
c.1456G= (p.Val486=)
c.1459G= (p.Val487=)
c.1138G= (p.Val380=)
c.1303G= (p.Val435=)
c.*803G= (n.*803G=)
c.970G= (p.Val324=)
c.1429G= (p.Val477=)
c.1321G= (p.Val441=)
c.1474G= (p.Val492=)
c.1426G= (p.Val476=)
c.1309G= (p.Val437=)
c.1291G= (p.Val431=)
3g.69965144G>TCA353559927MITFc.1411G>T (p.Val471Phe)
c.1408G>T (p.Val470Phe)
n.1633G>T
c.1384G>T (p.Val462Phe)
c.*222G>T (n.*222G>T)
c.1477G>T (p.Val493Phe)
c.1156G>T (p.Val386Phe)
c.1456G>T (p.Val486Phe)
c.1459G>T (p.Val487Phe)
c.1138G>T (p.Val380Phe)
c.1303G>T (p.Val435Phe)
c.*803G>T (n.*803G>T)
c.970G>T (p.Val324Phe)
c.1429G>T (p.Val477Phe)
c.1321G>T (p.Val441Phe)
c.1474G>T (p.Val492Phe)
c.1426G>T (p.Val476Phe)
c.1309G>T (p.Val437Phe)
c.1291G>T (p.Val431Phe)
 gnomAD v4
3g.69965145T>ACA2490681MITFc.1412T>A (p.Val471Asp)
c.1409T>A (p.Val470Asp)
n.1634T>A
c.1385T>A (p.Val462Asp)
c.*223T>A (n.*223T>A)
c.1478T>A (p.Val493Asp)
c.1157T>A (p.Val386Asp)
c.1457T>A (p.Val486Asp)
c.1460T>A (p.Val487Asp)
c.1139T>A (p.Val380Asp)
c.1304T>A (p.Val435Asp)
c.*804T>A (n.*804T>A)
c.971T>A (p.Val324Asp)
c.1430T>A (p.Val477Asp)
c.1322T>A (p.Val441Asp)
c.1475T>A (p.Val492Asp)
c.1427T>A (p.Val476Asp)
c.1310T>A (p.Val437Asp)
c.1292T>A (p.Val431Asp)
 dbSNP ExAC gnomAD v2
3g.69965145T>CCA353559928MITFc.1412T>C (p.Val471Ala)
c.1409T>C (p.Val470Ala)
n.1634T>C
c.1385T>C (p.Val462Ala)
c.*223T>C (n.*223T>C)
c.1478T>C (p.Val493Ala)
c.1157T>C (p.Val386Ala)
c.1457T>C (p.Val486Ala)
c.1460T>C (p.Val487Ala)
c.1139T>C (p.Val380Ala)
c.1304T>C (p.Val435Ala)
c.*804T>C (n.*804T>C)
c.971T>C (p.Val324Ala)
c.1430T>C (p.Val477Ala)
c.1322T>C (p.Val441Ala)
c.1475T>C (p.Val492Ala)
c.1427T>C (p.Val476Ala)
c.1310T>C (p.Val437Ala)
c.1292T>C (p.Val431Ala)
3g.69965145T>GCA353559929MITFc.1412T>G (p.Val471Gly)
c.1409T>G (p.Val470Gly)
n.1634T>G
c.1385T>G (p.Val462Gly)
c.*223T>G (n.*223T>G)
c.1478T>G (p.Val493Gly)
c.1157T>G (p.Val386Gly)
c.1457T>G (p.Val486Gly)
c.1460T>G (p.Val487Gly)
c.1139T>G (p.Val380Gly)
c.1304T>G (p.Val435Gly)
c.*804T>G (n.*804T>G)
c.971T>G (p.Val324Gly)
c.1430T>G (p.Val477Gly)
c.1322T>G (p.Val441Gly)
c.1475T>G (p.Val492Gly)
c.1427T>G (p.Val476Gly)
c.1310T>G (p.Val437Gly)
c.1292T>G (p.Val431Gly)
3g.69965145T=CA1373414420MITFc.1412T= (p.Val471=)
c.1409T= (p.Val470=)
n.1634T=
c.1385T= (p.Val462=)
c.*223T= (n.*223T=)
c.1478T= (p.Val493=)
c.1157T= (p.Val386=)
c.1457T= (p.Val486=)
c.1460T= (p.Val487=)
c.1139T= (p.Val380=)
c.1304T= (p.Val435=)
c.*804T= (n.*804T=)
c.971T= (p.Val324=)
c.1430T= (p.Val477=)
c.1322T= (p.Val441=)
c.1475T= (p.Val492=)
c.1427T= (p.Val476=)
c.1310T= (p.Val437=)
c.1292T= (p.Val431=)
3g.69965146C>ACA434433819MITFc.1413C>A (p.Val471=)
c.1410C>A (p.Val470=)
n.1635C>A
c.1386C>A (p.Val462=)
c.*224C>A (n.*224C>A)
c.1479C>A (p.Val493=)
c.1158C>A (p.Val386=)
c.1458C>A (p.Val486=)
c.1461C>A (p.Val487=)
c.1140C>A (p.Val380=)
c.1305C>A (p.Val435=)
c.*805C>A (n.*805C>A)
c.972C>A (p.Val324=)
c.1431C>A (p.Val477=)
c.1323C>A (p.Val441=)
c.1476C>A (p.Val492=)
c.1428C>A (p.Val476=)
c.1311C>A (p.Val437=)
c.1293C>A (p.Val431=)
3g.69965146C=CA1373414423MITFc.1413C= (p.Val471=)
c.1410C= (p.Val470=)
n.1635C=
c.1386C= (p.Val462=)
c.*224C= (n.*224C=)
c.1479C= (p.Val493=)
c.1158C= (p.Val386=)
c.1458C= (p.Val486=)
c.1461C= (p.Val487=)
c.1140C= (p.Val380=)
c.1305C= (p.Val435=)
c.*805C= (n.*805C=)
c.972C= (p.Val324=)
c.1431C= (p.Val477=)
c.1323C= (p.Val441=)
c.1476C= (p.Val492=)
c.1428C= (p.Val476=)
c.1311C= (p.Val437=)
c.1293C= (p.Val431=)
3g.69965146C>GCA434433820MITFc.1413C>G (p.Val471=)
c.1410C>G (p.Val470=)
n.1635C>G
c.1386C>G (p.Val462=)
c.*224C>G (n.*224C>G)
c.1479C>G (p.Val493=)
c.1158C>G (p.Val386=)
c.1458C>G (p.Val486=)
c.1461C>G (p.Val487=)
c.1140C>G (p.Val380=)
c.1305C>G (p.Val435=)
c.*805C>G (n.*805C>G)
c.972C>G (p.Val324=)
c.1431C>G (p.Val477=)
c.1323C>G (p.Val441=)
c.1476C>G (p.Val492=)
c.1428C>G (p.Val476=)
c.1311C>G (p.Val437=)
c.1293C>G (p.Val431=)
 dbSNP gnomAD v4
3g.69965146C>TCA2490682MITFc.1413C>T (p.Val471=)
c.1410C>T (p.Val470=)
n.1635C>T
c.1386C>T (p.Val462=)
c.*224C>T (n.*224C>T)
c.1479C>T (p.Val493=)
c.1158C>T (p.Val386=)
c.1458C>T (p.Val486=)
c.1461C>T (p.Val487=)
c.1140C>T (p.Val380=)
c.1305C>T (p.Val435=)
c.*805C>T (n.*805C>T)
c.972C>T (p.Val324=)
c.1431C>T (p.Val477=)
c.1323C>T (p.Val441=)
c.1476C>T (p.Val492=)
c.1428C>T (p.Val476=)
c.1311C>T (p.Val437=)
c.1293C>T (p.Val431=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.69965147G>ACA2490683MITFc.1414G>A (p.Gly472Ser)
c.1411G>A (p.Gly471Ser)
n.1636G>A
c.1387G>A (p.Gly463Ser)
c.*225G>A (n.*225G>A)
c.1480G>A (p.Gly494Ser)
c.1159G>A (p.Gly387Ser)
c.1459G>A (p.Gly487Ser)
c.1462G>A (p.Gly488Ser)
c.1141G>A (p.Gly381Ser)
c.1306G>A (p.Gly436Ser)
c.*806G>A (n.*806G>A)
c.973G>A (p.Gly325Ser)
c.1432G>A (p.Gly478Ser)
c.1324G>A (p.Gly442Ser)
c.1477G>A (p.Gly493Ser)
c.1429G>A (p.Gly477Ser)
c.1312G>A (p.Gly438Ser)
c.1294G>A (p.Gly432Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.69965147G>CCA353559930MITFc.1414G>C (p.Gly472Arg)
c.1411G>C (p.Gly471Arg)
n.1636G>C
c.1387G>C (p.Gly463Arg)
c.*225G>C (n.*225G>C)
c.1480G>C (p.Gly494Arg)
c.1159G>C (p.Gly387Arg)
c.1459G>C (p.Gly487Arg)
c.1462G>C (p.Gly488Arg)
c.1141G>C (p.Gly381Arg)
c.1306G>C (p.Gly436Arg)
c.*806G>C (n.*806G>C)
c.973G>C (p.Gly325Arg)
c.1432G>C (p.Gly478Arg)
c.1324G>C (p.Gly442Arg)
c.1477G>C (p.Gly493Arg)
c.1429G>C (p.Gly477Arg)
c.1312G>C (p.Gly438Arg)
c.1294G>C (p.Gly432Arg)
 gnomAD v4
3g.69965147G=CA1373414425MITFc.1414G= (p.Gly472=)
c.1411G= (p.Gly471=)
n.1636G=
c.1387G= (p.Gly463=)
c.*225G= (n.*225G=)
c.1480G= (p.Gly494=)
c.1159G= (p.Gly387=)
c.1459G= (p.Gly487=)
c.1462G= (p.Gly488=)
c.1141G= (p.Gly381=)
c.1306G= (p.Gly436=)
c.*806G= (n.*806G=)
c.973G= (p.Gly325=)
c.1432G= (p.Gly478=)
c.1324G= (p.Gly442=)
c.1477G= (p.Gly493=)
c.1429G= (p.Gly477=)
c.1312G= (p.Gly438=)
c.1294G= (p.Gly432=)
3g.69965147G>TCA353559931MITFc.1414G>T (p.Gly472Cys)
c.1411G>T (p.Gly471Cys)
n.1636G>T
c.1387G>T (p.Gly463Cys)
c.*225G>T (n.*225G>T)
c.1480G>T (p.Gly494Cys)
c.1159G>T (p.Gly387Cys)
c.1459G>T (p.Gly487Cys)
c.1462G>T (p.Gly488Cys)
c.1141G>T (p.Gly381Cys)
c.1306G>T (p.Gly436Cys)
c.*806G>T (n.*806G>T)
c.973G>T (p.Gly325Cys)
c.1432G>T (p.Gly478Cys)
c.1324G>T (p.Gly442Cys)
c.1477G>T (p.Gly493Cys)
c.1429G>T (p.Gly477Cys)
c.1312G>T (p.Gly438Cys)
c.1294G>T (p.Gly432Cys)
3g.69965148G>ACA353559932MITFc.1415G>A (p.Gly472Asp)
c.1412G>A (p.Gly471Asp)
n.1637G>A
c.1388G>A (p.Gly463Asp)
c.*226G>A (n.*226G>A)
c.1481G>A (p.Gly494Asp)
c.1160G>A (p.Gly387Asp)
c.1460G>A (p.Gly487Asp)
c.1463G>A (p.Gly488Asp)
c.1142G>A (p.Gly381Asp)
c.1307G>A (p.Gly436Asp)
c.*807G>A (n.*807G>A)
c.974G>A (p.Gly325Asp)
c.1433G>A (p.Gly478Asp)
c.1325G>A (p.Gly442Asp)
c.1478G>A (p.Gly493Asp)
c.1430G>A (p.Gly477Asp)
c.1313G>A (p.Gly438Asp)
c.1295G>A (p.Gly432Asp)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
3g.69965148G>CCA353559933MITFc.1415G>C (p.Gly472Ala)
c.1412G>C (p.Gly471Ala)
n.1637G>C
c.1388G>C (p.Gly463Ala)
c.*226G>C (n.*226G>C)
c.1481G>C (p.Gly494Ala)
c.1160G>C (p.Gly387Ala)
c.1460G>C (p.Gly487Ala)
c.1463G>C (p.Gly488Ala)
c.1142G>C (p.Gly381Ala)
c.1307G>C (p.Gly436Ala)
c.*807G>C (n.*807G>C)
c.974G>C (p.Gly325Ala)
c.1433G>C (p.Gly478Ala)
c.1325G>C (p.Gly442Ala)
c.1478G>C (p.Gly493Ala)
c.1430G>C (p.Gly477Ala)
c.1313G>C (p.Gly438Ala)
c.1295G>C (p.Gly432Ala)
3g.69965148G=CA1373414428MITFc.1415G= (p.Gly472=)
c.1412G= (p.Gly471=)
n.1637G=
c.1388G= (p.Gly463=)
c.*226G= (n.*226G=)
c.1481G= (p.Gly494=)
c.1160G= (p.Gly387=)
c.1460G= (p.Gly487=)
c.1463G= (p.Gly488=)
c.1142G= (p.Gly381=)
c.1307G= (p.Gly436=)
c.*807G= (n.*807G=)
c.974G= (p.Gly325=)
c.1433G= (p.Gly478=)
c.1325G= (p.Gly442=)
c.1478G= (p.Gly493=)
c.1430G= (p.Gly477=)
c.1313G= (p.Gly438=)
c.1295G= (p.Gly432=)
3g.69965148G>TCA353559934MITFc.1415G>T (p.Gly472Val)
c.1412G>T (p.Gly471Val)
n.1637G>T
c.1388G>T (p.Gly463Val)
c.*226G>T (n.*226G>T)
c.1481G>T (p.Gly494Val)
c.1160G>T (p.Gly387Val)
c.1460G>T (p.Gly487Val)
c.1463G>T (p.Gly488Val)
c.1142G>T (p.Gly381Val)
c.1307G>T (p.Gly436Val)
c.*807G>T (n.*807G>T)
c.974G>T (p.Gly325Val)
c.1433G>T (p.Gly478Val)
c.1325G>T (p.Gly442Val)
c.1478G>T (p.Gly493Val)
c.1430G>T (p.Gly477Val)
c.1313G>T (p.Gly438Val)
c.1295G>T (p.Gly432Val)
3g.69965149T>ACA434433821MITFc.1416T>A (p.Gly472=)
c.1413T>A (p.Gly471=)
n.1638T>A
c.1389T>A (p.Gly463=)
c.*227T>A (n.*227T>A)
c.1482T>A (p.Gly494=)
c.1161T>A (p.Gly387=)
c.1461T>A (p.Gly487=)
c.1464T>A (p.Gly488=)
c.1143T>A (p.Gly381=)
c.1308T>A (p.Gly436=)
c.*808T>A (n.*808T>A)
c.975T>A (p.Gly325=)
c.1434T>A (p.Gly478=)
c.1326T>A (p.Gly442=)
c.1479T>A (p.Gly493=)
c.1431T>A (p.Gly477=)
c.1314T>A (p.Gly438=)
c.1296T>A (p.Gly432=)
3g.69965149T>CCA434433822MITFc.1416T>C (p.Gly472=)
c.1413T>C (p.Gly471=)
n.1638T>C
c.1389T>C (p.Gly463=)
c.*227T>C (n.*227T>C)
c.1482T>C (p.Gly494=)
c.1161T>C (p.Gly387=)
c.1461T>C (p.Gly487=)
c.1464T>C (p.Gly488=)
c.1143T>C (p.Gly381=)
c.1308T>C (p.Gly436=)
c.*808T>C (n.*808T>C)
c.975T>C (p.Gly325=)
c.1434T>C (p.Gly478=)
c.1326T>C (p.Gly442=)
c.1479T>C (p.Gly493=)
c.1431T>C (p.Gly477=)
c.1314T>C (p.Gly438=)
c.1296T>C (p.Gly432=)
 dbSNP gnomAD v2 gnomAD v4
3g.69965149T>GCA434433823MITFc.1416T>G (p.Gly472=)
c.1413T>G (p.Gly471=)
n.1638T>G
c.1389T>G (p.Gly463=)
c.*227T>G (n.*227T>G)
c.1482T>G (p.Gly494=)
c.1161T>G (p.Gly387=)
c.1461T>G (p.Gly487=)
c.1464T>G (p.Gly488=)
c.1143T>G (p.Gly381=)
c.1308T>G (p.Gly436=)
c.*808T>G (n.*808T>G)
c.975T>G (p.Gly325=)
c.1434T>G (p.Gly478=)
c.1326T>G (p.Gly442=)
c.1479T>G (p.Gly493=)
c.1431T>G (p.Gly477=)
c.1314T>G (p.Gly438=)
c.1296T>G (p.Gly432=)
3g.69965149T=CA1373414431MITFc.1416T= (p.Gly472=)
c.1413T= (p.Gly471=)
n.1638T=
c.1389T= (p.Gly463=)
c.*227T= (n.*227T=)
c.1482T= (p.Gly494=)
c.1161T= (p.Gly387=)
c.1461T= (p.Gly487=)
c.1464T= (p.Gly488=)
c.1143T= (p.Gly381=)
c.1308T= (p.Gly436=)
c.*808T= (n.*808T=)
c.975T= (p.Gly325=)
c.1434T= (p.Gly478=)
c.1326T= (p.Gly442=)
c.1479T= (p.Gly493=)
c.1431T= (p.Gly477=)
c.1314T= (p.Gly438=)
c.1296T= (p.Gly432=)
3g.69965150G>ACA2490684MITFc.1417G>A (p.Val473Ile)
c.1414G>A (p.Val472Ile)
n.1639G>A
c.1390G>A (p.Val464Ile)
c.*228G>A (n.*228G>A)
c.1483G>A (p.Val495Ile)
c.1162G>A (p.Val388Ile)
c.1462G>A (p.Val488Ile)
c.1465G>A (p.Val489Ile)
c.1144G>A (p.Val382Ile)
c.1309G>A (p.Val437Ile)
c.*809G>A (n.*809G>A)
c.976G>A (p.Val326Ile)
c.1435G>A (p.Val479Ile)
c.1327G>A (p.Val443Ile)
c.1480G>A (p.Val494Ile)
c.1432G>A (p.Val478Ile)
c.1315G>A (p.Val439Ile)
c.1297G>A (p.Val433Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.69965150G>CCA353559936MITFc.1417G>C (p.Val473Leu)
c.1414G>C (p.Val472Leu)
n.1639G>C
c.1390G>C (p.Val464Leu)
c.*228G>C (n.*228G>C)
c.1483G>C (p.Val495Leu)
c.1162G>C (p.Val388Leu)
c.1462G>C (p.Val488Leu)
c.1465G>C (p.Val489Leu)
c.1144G>C (p.Val382Leu)
c.1309G>C (p.Val437Leu)
c.*809G>C (n.*809G>C)
c.976G>C (p.Val326Leu)
c.1435G>C (p.Val479Leu)
c.1327G>C (p.Val443Leu)
c.1480G>C (p.Val494Leu)
c.1432G>C (p.Val478Leu)
c.1315G>C (p.Val439Leu)
c.1297G>C (p.Val433Leu)
3g.69965150G=CA1373414433MITFc.1417G= (p.Val473=)
c.1414G= (p.Val472=)
n.1639G=
c.1390G= (p.Val464=)
c.*228G= (n.*228G=)
c.1483G= (p.Val495=)
c.1162G= (p.Val388=)
c.1462G= (p.Val488=)
c.1465G= (p.Val489=)
c.1144G= (p.Val382=)
c.1309G= (p.Val437=)
c.*809G= (n.*809G=)
c.976G= (p.Val326=)
c.1435G= (p.Val479=)
c.1327G= (p.Val443=)
c.1480G= (p.Val494=)
c.1432G= (p.Val478=)
c.1315G= (p.Val439=)
c.1297G= (p.Val433=)
3g.69965150G>TCA353559935MITFc.1417G>T (p.Val473Phe)
c.1414G>T (p.Val472Phe)
n.1639G>T
c.1390G>T (p.Val464Phe)
c.*228G>T (n.*228G>T)
c.1483G>T (p.Val495Phe)
c.1162G>T (p.Val388Phe)
c.1462G>T (p.Val488Phe)
c.1465G>T (p.Val489Phe)
c.1144G>T (p.Val382Phe)
c.1309G>T (p.Val437Phe)
c.*809G>T (n.*809G>T)
c.976G>T (p.Val326Phe)
c.1435G>T (p.Val479Phe)
c.1327G>T (p.Val443Phe)
c.1480G>T (p.Val494Phe)
c.1432G>T (p.Val478Phe)
c.1315G>T (p.Val439Phe)
c.1297G>T (p.Val433Phe)
3g.69965151T>ACA353559937MITFc.1418T>A (p.Val473Asp)
c.1415T>A (p.Val472Asp)
n.1640T>A
c.1391T>A (p.Val464Asp)
c.*229T>A (n.*229T>A)
c.1484T>A (p.Val495Asp)
c.1163T>A (p.Val388Asp)
c.1463T>A (p.Val488Asp)
c.1466T>A (p.Val489Asp)
c.1145T>A (p.Val382Asp)
c.1310T>A (p.Val437Asp)
c.*810T>A (n.*810T>A)
c.977T>A (p.Val326Asp)
c.1436T>A (p.Val479Asp)
c.1328T>A (p.Val443Asp)
c.1481T>A (p.Val494Asp)
c.1433T>A (p.Val478Asp)
c.1316T>A (p.Val439Asp)
c.1298T>A (p.Val433Asp)
3g.69965151T>CCA353559939MITFc.1418T>C (p.Val473Ala)
c.1415T>C (p.Val472Ala)
n.1640T>C
c.1391T>C (p.Val464Ala)
c.*229T>C (n.*229T>C)
c.1484T>C (p.Val495Ala)
c.1163T>C (p.Val388Ala)
c.1463T>C (p.Val488Ala)
c.1466T>C (p.Val489Ala)
c.1145T>C (p.Val382Ala)
c.1310T>C (p.Val437Ala)
c.*810T>C (n.*810T>C)
c.977T>C (p.Val326Ala)
c.1436T>C (p.Val479Ala)
c.1328T>C (p.Val443Ala)
c.1481T>C (p.Val494Ala)
c.1433T>C (p.Val478Ala)
c.1316T>C (p.Val439Ala)
c.1298T>C (p.Val433Ala)
3g.69965151T>GCA353559938MITFc.1418T>G (p.Val473Gly)
c.1415T>G (p.Val472Gly)
n.1640T>G
c.1391T>G (p.Val464Gly)
c.*229T>G (n.*229T>G)
c.1484T>G (p.Val495Gly)
c.1163T>G (p.Val388Gly)
c.1463T>G (p.Val488Gly)
c.1466T>G (p.Val489Gly)
c.1145T>G (p.Val382Gly)
c.1310T>G (p.Val437Gly)
c.*810T>G (n.*810T>G)
c.977T>G (p.Val326Gly)
c.1436T>G (p.Val479Gly)
c.1328T>G (p.Val443Gly)
c.1481T>G (p.Val494Gly)
c.1433T>G (p.Val478Gly)
c.1316T>G (p.Val439Gly)
c.1298T>G (p.Val433Gly)
3g.69965152C>ACA434433825MITFc.1419C>A (p.Val473=)
c.1416C>A (p.Val472=)
n.1641C>A
c.1392C>A (p.Val464=)
c.*230C>A (n.*230C>A)
c.1485C>A (p.Val495=)
c.1164C>A (p.Val388=)
c.1464C>A (p.Val488=)
c.1467C>A (p.Val489=)
c.1146C>A (p.Val382=)
c.1311C>A (p.Val437=)
c.*811C>A (n.*811C>A)
c.978C>A (p.Val326=)
c.1437C>A (p.Val479=)
c.1329C>A (p.Val443=)
c.1482C>A (p.Val494=)
c.1434C>A (p.Val478=)
c.1317C>A (p.Val439=)
c.1299C>A (p.Val433=)
3g.69965152C>GCA434433826MITFc.1419C>G (p.Val473=)
c.1416C>G (p.Val472=)
n.1641C>G
c.1392C>G (p.Val464=)
c.*230C>G (n.*230C>G)
c.1485C>G (p.Val495=)
c.1164C>G (p.Val388=)
c.1464C>G (p.Val488=)
c.1467C>G (p.Val489=)
c.1146C>G (p.Val382=)
c.1311C>G (p.Val437=)
c.*811C>G (n.*811C>G)
c.978C>G (p.Val326=)
c.1437C>G (p.Val479=)
c.1329C>G (p.Val443=)
c.1482C>G (p.Val494=)
c.1434C>G (p.Val478=)
c.1317C>G (p.Val439=)
c.1299C>G (p.Val433=)
3g.69965152C>TCA434433824MITFc.1419C>T (p.Val473=)
c.1416C>T (p.Val472=)
n.1641C>T
c.1392C>T (p.Val464=)
c.*230C>T (n.*230C>T)
c.1485C>T (p.Val495=)
c.1164C>T (p.Val388=)
c.1464C>T (p.Val488=)
c.1467C>T (p.Val489=)
c.1146C>T (p.Val382=)
c.1311C>T (p.Val437=)
c.*811C>T (n.*811C>T)
c.978C>T (p.Val326=)
c.1437C>T (p.Val479=)
c.1329C>T (p.Val443=)
c.1482C>T (p.Val494=)
c.1434C>T (p.Val478=)
c.1317C>T (p.Val439=)
c.1299C>T (p.Val433=)
 gnomAD v4
3g.69965153A>CCA353559940MITFc.1420A>C (p.Thr474Pro)
c.1417A>C (p.Thr473Pro)
n.1642A>C
c.1393A>C (p.Thr465Pro)
c.*231A>C (n.*231A>C)
c.1486A>C (p.Thr496Pro)
c.1165A>C (p.Thr389Pro)
c.1465A>C (p.Thr489Pro)
c.1468A>C (p.Thr490Pro)
c.1147A>C (p.Thr383Pro)
c.1312A>C (p.Thr438Pro)
c.*812A>C (n.*812A>C)
c.979A>C (p.Thr327Pro)
c.1438A>C (p.Thr480Pro)
c.1330A>C (p.Thr444Pro)
c.1483A>C (p.Thr495Pro)
c.1435A>C (p.Thr479Pro)
c.1318A>C (p.Thr440Pro)
c.1300A>C (p.Thr434Pro)
3g.69965153A>GCA353559941MITFc.1420A>G (p.Thr474Ala)
c.1417A>G (p.Thr473Ala)
n.1642A>G
c.1393A>G (p.Thr465Ala)
c.*231A>G (n.*231A>G)
c.1486A>G (p.Thr496Ala)
c.1165A>G (p.Thr389Ala)
c.1465A>G (p.Thr489Ala)
c.1468A>G (p.Thr490Ala)
c.1147A>G (p.Thr383Ala)
c.1312A>G (p.Thr438Ala)
c.*812A>G (n.*812A>G)
c.979A>G (p.Thr327Ala)
c.1438A>G (p.Thr480Ala)
c.1330A>G (p.Thr444Ala)
c.1483A>G (p.Thr495Ala)
c.1435A>G (p.Thr479Ala)
c.1318A>G (p.Thr440Ala)
c.1300A>G (p.Thr434Ala)
 ClinVar dbSNP
3g.69965153A>TCA353559942MITFc.1420A>T (p.Thr474Ser)
c.1417A>T (p.Thr473Ser)
n.1642A>T
c.1393A>T (p.Thr465Ser)
c.*231A>T (n.*231A>T)
c.1486A>T (p.Thr496Ser)
c.1165A>T (p.Thr389Ser)
c.1465A>T (p.Thr489Ser)
c.1468A>T (p.Thr490Ser)
c.1147A>T (p.Thr383Ser)
c.1312A>T (p.Thr438Ser)
c.*812A>T (n.*812A>T)
c.979A>T (p.Thr327Ser)
c.1438A>T (p.Thr480Ser)
c.1330A>T (p.Thr444Ser)
c.1483A>T (p.Thr495Ser)
c.1435A>T (p.Thr479Ser)
c.1318A>T (p.Thr440Ser)
c.1300A>T (p.Thr434Ser)
3g.69965154C>ACA353559943MITFc.1421C>A (p.Thr474Asn)
c.1418C>A (p.Thr473Asn)
n.1643C>A
c.1394C>A (p.Thr465Asn)
c.*232C>A (n.*232C>A)
c.1487C>A (p.Thr496Asn)
c.1166C>A (p.Thr389Asn)
c.1466C>A (p.Thr489Asn)
c.1469C>A (p.Thr490Asn)
c.1148C>A (p.Thr383Asn)
c.1313C>A (p.Thr438Asn)
c.*813C>A (n.*813C>A)
c.980C>A (p.Thr327Asn)
c.1439C>A (p.Thr480Asn)
c.1331C>A (p.Thr444Asn)
c.1484C>A (p.Thr495Asn)
c.1436C>A (p.Thr479Asn)
c.1319C>A (p.Thr440Asn)
c.1301C>A (p.Thr434Asn)
 gnomAD v4
3g.69965154C=CA1373414435MITFc.1421C= (p.Thr474=)
c.1418C= (p.Thr473=)
n.1643C=
c.1394C= (p.Thr465=)
c.*232C= (n.*232C=)
c.1487C= (p.Thr496=)
c.1166C= (p.Thr389=)
c.1466C= (p.Thr489=)
c.1469C= (p.Thr490=)
c.1148C= (p.Thr383=)
c.1313C= (p.Thr438=)
c.*813C= (n.*813C=)
c.980C= (p.Thr327=)
c.1439C= (p.Thr480=)
c.1331C= (p.Thr444=)
c.1484C= (p.Thr495=)
c.1436C= (p.Thr479=)
c.1319C= (p.Thr440=)
c.1301C= (p.Thr434=)
3g.69965154C>GCA353559944MITFc.1421C>G (p.Thr474Ser)
c.1418C>G (p.Thr473Ser)
n.1643C>G
c.1394C>G (p.Thr465Ser)
c.*232C>G (n.*232C>G)
c.1487C>G (p.Thr496Ser)
c.1166C>G (p.Thr389Ser)
c.1466C>G (p.Thr489Ser)
c.1469C>G (p.Thr490Ser)
c.1148C>G (p.Thr383Ser)
c.1313C>G (p.Thr438Ser)
c.*813C>G (n.*813C>G)
c.980C>G (p.Thr327Ser)
c.1439C>G (p.Thr480Ser)
c.1331C>G (p.Thr444Ser)
c.1484C>G (p.Thr495Ser)
c.1436C>G (p.Thr479Ser)
c.1319C>G (p.Thr440Ser)
c.1301C>G (p.Thr434Ser)
3g.69965154C>TCA2490685MITFc.1421C>T (p.Thr474Ile)
c.1418C>T (p.Thr473Ile)
n.1643C>T
c.1394C>T (p.Thr465Ile)
c.*232C>T (n.*232C>T)
c.1487C>T (p.Thr496Ile)
c.1166C>T (p.Thr389Ile)
c.1466C>T (p.Thr489Ile)
c.1469C>T (p.Thr490Ile)
c.1148C>T (p.Thr383Ile)
c.1313C>T (p.Thr438Ile)
c.*813C>T (n.*813C>T)
c.980C>T (p.Thr327Ile)
c.1439C>T (p.Thr480Ile)
c.1331C>T (p.Thr444Ile)
c.1484C>T (p.Thr495Ile)
c.1436C>T (p.Thr479Ile)
c.1319C>T (p.Thr440Ile)
c.1301C>T (p.Thr434Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.69965155T>ACA434433827MITFc.1422T>A (p.Thr474=)
c.1419T>A (p.Thr473=)
n.1644T>A
c.1395T>A (p.Thr465=)
c.*233T>A (n.*233T>A)
c.1488T>A (p.Thr496=)
c.1167T>A (p.Thr389=)
c.1467T>A (p.Thr489=)
c.1470T>A (p.Thr490=)
c.1149T>A (p.Thr383=)
c.1314T>A (p.Thr438=)
c.*814T>A (n.*814T>A)
c.981T>A (p.Thr327=)
c.1440T>A (p.Thr480=)
c.1332T>A (p.Thr444=)
c.1485T>A (p.Thr495=)
c.1437T>A (p.Thr479=)
c.1320T>A (p.Thr440=)
c.1302T>A (p.Thr434=)
3g.69965155T>CCA434433828MITFc.1422T>C (p.Thr474=)
c.1419T>C (p.Thr473=)
n.1644T>C
c.1395T>C (p.Thr465=)
c.*233T>C (n.*233T>C)
c.1488T>C (p.Thr496=)
c.1167T>C (p.Thr389=)
c.1467T>C (p.Thr489=)
c.1470T>C (p.Thr490=)
c.1149T>C (p.Thr383=)
c.1314T>C (p.Thr438=)
c.*814T>C (n.*814T>C)
c.981T>C (p.Thr327=)
c.1440T>C (p.Thr480=)
c.1332T>C (p.Thr444=)
c.1485T>C (p.Thr495=)
c.1437T>C (p.Thr479=)
c.1320T>C (p.Thr440=)
c.1302T>C (p.Thr434=)
3g.69965155T>GCA434433829MITFc.1422T>G (p.Thr474=)
c.1419T>G (p.Thr473=)
n.1644T>G
c.1395T>G (p.Thr465=)
c.*233T>G (n.*233T>G)
c.1488T>G (p.Thr496=)
c.1167T>G (p.Thr389=)
c.1467T>G (p.Thr489=)
c.1470T>G (p.Thr490=)
c.1149T>G (p.Thr383=)
c.1314T>G (p.Thr438=)
c.*814T>G (n.*814T>G)
c.981T>G (p.Thr327=)
c.1440T>G (p.Thr480=)
c.1332T>G (p.Thr444=)
c.1485T>G (p.Thr495=)
c.1437T>G (p.Thr479=)
c.1320T>G (p.Thr440=)
c.1302T>G (p.Thr434=)
3g.69965156G>ACA353559945MITFc.1423G>A (p.Asp475Asn)
c.1420G>A (p.Asp474Asn)
n.1645G>A
c.1396G>A (p.Asp466Asn)
c.*234G>A (n.*234G>A)
c.1489G>A (p.Asp497Asn)
c.1168G>A (p.Asp390Asn)
c.1468G>A (p.Asp490Asn)
c.1471G>A (p.Asp491Asn)
c.1150G>A (p.Asp384Asn)
c.1315G>A (p.Asp439Asn)
c.*815G>A (n.*815G>A)
c.982G>A (p.Asp328Asn)
c.1441G>A (p.Asp481Asn)
c.1333G>A (p.Asp445Asn)
c.1486G>A (p.Asp496Asn)
c.1438G>A (p.Asp480Asn)
c.1321G>A (p.Asp441Asn)
c.1303G>A (p.Asp435Asn)
3g.69965156G>CCA353559946MITFc.1423G>C (p.Asp475His)
c.1420G>C (p.Asp474His)
n.1645G>C
c.1396G>C (p.Asp466His)
c.*234G>C (n.*234G>C)
c.1489G>C (p.Asp497His)
c.1168G>C (p.Asp390His)
c.1468G>C (p.Asp490His)
c.1471G>C (p.Asp491His)
c.1150G>C (p.Asp384His)
c.1315G>C (p.Asp439His)
c.*815G>C (n.*815G>C)
c.982G>C (p.Asp328His)
c.1441G>C (p.Asp481His)
c.1333G>C (p.Asp445His)
c.1486G>C (p.Asp496His)
c.1438G>C (p.Asp480His)
c.1321G>C (p.Asp441His)
c.1303G>C (p.Asp435His)
3g.69965156G>TCA353559947MITFc.1423G>T (p.Asp475Tyr)
c.1420G>T (p.Asp474Tyr)
n.1645G>T
c.1396G>T (p.Asp466Tyr)
c.*234G>T (n.*234G>T)
c.1489G>T (p.Asp497Tyr)
c.1168G>T (p.Asp390Tyr)
c.1468G>T (p.Asp490Tyr)
c.1471G>T (p.Asp491Tyr)
c.1150G>T (p.Asp384Tyr)
c.1315G>T (p.Asp439Tyr)
c.*815G>T (n.*815G>T)
c.982G>T (p.Asp328Tyr)
c.1441G>T (p.Asp481Tyr)
c.1333G>T (p.Asp445Tyr)
c.1486G>T (p.Asp496Tyr)
c.1438G>T (p.Asp480Tyr)
c.1321G>T (p.Asp441Tyr)
c.1303G>T (p.Asp435Tyr)
3g.69965157A=CA1373414439MITFc.1424A= (p.Asp475=)
c.1421A= (p.Asp474=)
n.1646A=
c.1397A= (p.Asp466=)
c.*235A= (n.*235A=)
c.1490A= (p.Asp497=)
c.1169A= (p.Asp390=)
c.1469A= (p.Asp490=)
c.1472A= (p.Asp491=)
c.1151A= (p.Asp384=)
c.1316A= (p.Asp439=)
c.*816A= (n.*816A=)
c.983A= (p.Asp328=)
c.1442A= (p.Asp481=)
c.1334A= (p.Asp445=)
c.1487A= (p.Asp496=)
c.1439A= (p.Asp480=)
c.1322A= (p.Asp441=)
c.1304A= (p.Asp435=)
3g.69965157A>CCA353559948MITFc.1424A>C (p.Asp475Ala)
c.1421A>C (p.Asp474Ala)
n.1646A>C
c.1397A>C (p.Asp466Ala)
c.*235A>C (n.*235A>C)
c.1490A>C (p.Asp497Ala)
c.1169A>C (p.Asp390Ala)
c.1469A>C (p.Asp490Ala)
c.1472A>C (p.Asp491Ala)
c.1151A>C (p.Asp384Ala)
c.1316A>C (p.Asp439Ala)
c.*816A>C (n.*816A>C)
c.983A>C (p.Asp328Ala)
c.1442A>C (p.Asp481Ala)
c.1334A>C (p.Asp445Ala)
c.1487A>C (p.Asp496Ala)
c.1439A>C (p.Asp480Ala)
c.1322A>C (p.Asp441Ala)
c.1304A>C (p.Asp435Ala)
3g.69965157A>GCA353559949MITFc.1424A>G (p.Asp475Gly)
c.1421A>G (p.Asp474Gly)
n.1646A>G
c.1397A>G (p.Asp466Gly)
c.*235A>G (n.*235A>G)
c.1490A>G (p.Asp497Gly)
c.1169A>G (p.Asp390Gly)
c.1469A>G (p.Asp490Gly)
c.1472A>G (p.Asp491Gly)
c.1151A>G (p.Asp384Gly)
c.1316A>G (p.Asp439Gly)
c.*816A>G (n.*816A>G)
c.983A>G (p.Asp328Gly)
c.1442A>G (p.Asp481Gly)
c.1334A>G (p.Asp445Gly)
c.1487A>G (p.Asp496Gly)
c.1439A>G (p.Asp480Gly)
c.1322A>G (p.Asp441Gly)
c.1304A>G (p.Asp435Gly)
 COSMIC COSMIC COSMIC COSMIC
3g.69965157A>TCA353559950MITFc.1424A>T (p.Asp475Val)
c.1421A>T (p.Asp474Val)
n.1646A>T
c.1397A>T (p.Asp466Val)
c.*235A>T (n.*235A>T)
c.1490A>T (p.Asp497Val)
c.1169A>T (p.Asp390Val)
c.1469A>T (p.Asp490Val)
c.1472A>T (p.Asp491Val)
c.1151A>T (p.Asp384Val)
c.1316A>T (p.Asp439Val)
c.*816A>T (n.*816A>T)
c.983A>T (p.Asp328Val)
c.1442A>T (p.Asp481Val)
c.1334A>T (p.Asp445Val)
c.1487A>T (p.Asp496Val)
c.1439A>T (p.Asp480Val)
c.1322A>T (p.Asp441Val)
c.1304A>T (p.Asp435Val)
 dbSNP gnomAD v4
3g.69965158T>ACA353559951MITFc.1425T>A (p.Asp475Glu)
c.1422T>A (p.Asp474Glu)
n.1647T>A
c.1398T>A (p.Asp466Glu)
c.*236T>A (n.*236T>A)
c.1491T>A (p.Asp497Glu)
c.1170T>A (p.Asp390Glu)
c.1470T>A (p.Asp490Glu)
c.1473T>A (p.Asp491Glu)
c.1152T>A (p.Asp384Glu)
c.1317T>A (p.Asp439Glu)
c.*817T>A (n.*817T>A)
c.984T>A (p.Asp328Glu)
c.1443T>A (p.Asp481Glu)
c.1335T>A (p.Asp445Glu)
c.1488T>A (p.Asp496Glu)
c.1440T>A (p.Asp480Glu)
c.1323T>A (p.Asp441Glu)
c.1305T>A (p.Asp435Glu)
 dbSNP gnomAD v2
3g.69965158T>CCA434433830MITFc.1425T>C (p.Asp475=)
c.1422T>C (p.Asp474=)
n.1647T>C
c.1398T>C (p.Asp466=)
c.*236T>C (n.*236T>C)
c.1491T>C (p.Asp497=)
c.1170T>C (p.Asp390=)
c.1470T>C (p.Asp490=)
c.1473T>C (p.Asp491=)
c.1152T>C (p.Asp384=)
c.1317T>C (p.Asp439=)
c.*817T>C (n.*817T>C)
c.984T>C (p.Asp328=)
c.1443T>C (p.Asp481=)
c.1335T>C (p.Asp445=)
c.1488T>C (p.Asp496=)
c.1440T>C (p.Asp480=)
c.1323T>C (p.Asp441=)
c.1305T>C (p.Asp435=)
 gnomAD v3 gnomAD v4
3g.69965158T>GCA353559952MITFc.1425T>G (p.Asp475Glu)
c.1422T>G (p.Asp474Glu)
n.1647T>G
c.1398T>G (p.Asp466Glu)
c.*236T>G (n.*236T>G)
c.1491T>G (p.Asp497Glu)
c.1170T>G (p.Asp390Glu)
c.1470T>G (p.Asp490Glu)
c.1473T>G (p.Asp491Glu)
c.1152T>G (p.Asp384Glu)
c.1317T>G (p.Asp439Glu)
c.*817T>G (n.*817T>G)
c.984T>G (p.Asp328Glu)
c.1443T>G (p.Asp481Glu)
c.1335T>G (p.Asp445Glu)
c.1488T>G (p.Asp496Glu)
c.1440T>G (p.Asp480Glu)
c.1323T>G (p.Asp441Glu)
c.1305T>G (p.Asp435Glu)
3g.69965158T=CA1373414441MITFc.1425T= (p.Asp475=)
c.1422T= (p.Asp474=)
n.1647T=
c.1398T= (p.Asp466=)
c.*236T= (n.*236T=)
c.1491T= (p.Asp497=)
c.1170T= (p.Asp390=)
c.1470T= (p.Asp490=)
c.1473T= (p.Asp491=)
c.1152T= (p.Asp384=)
c.1317T= (p.Asp439=)
c.*817T= (n.*817T=)
c.984T= (p.Asp328=)
c.1443T= (p.Asp481=)
c.1335T= (p.Asp445=)
c.1488T= (p.Asp496=)
c.1440T= (p.Asp480=)
c.1323T= (p.Asp441=)
c.1305T= (p.Asp435=)
3g.69965159C>ACA353559953MITFc.1426C>A (p.Pro476Thr)
c.1423C>A (p.Pro475Thr)
n.1648C>A
c.1399C>A (p.Pro467Thr)
c.*237C>A (n.*237C>A)
c.1492C>A (p.Pro498Thr)
c.1171C>A (p.Pro391Thr)
c.1471C>A (p.Pro491Thr)
c.1474C>A (p.Pro492Thr)
c.1153C>A (p.Pro385Thr)
c.1318C>A (p.Pro440Thr)
c.*818C>A (n.*818C>A)
c.985C>A (p.Pro329Thr)
c.1444C>A (p.Pro482Thr)
c.1336C>A (p.Pro446Thr)
c.1489C>A (p.Pro497Thr)
c.1441C>A (p.Pro481Thr)
c.1324C>A (p.Pro442Thr)
c.1306C>A (p.Pro436Thr)
3g.69965159C=CA1373414444MITFc.1426C= (p.Pro476=)
c.1423C= (p.Pro475=)
n.1648C=
c.1399C= (p.Pro467=)
c.*237C= (n.*237C=)
c.1492C= (p.Pro498=)
c.1171C= (p.Pro391=)
c.1471C= (p.Pro491=)
c.1474C= (p.Pro492=)
c.1153C= (p.Pro385=)
c.1318C= (p.Pro440=)
c.*818C= (n.*818C=)
c.985C= (p.Pro329=)
c.1444C= (p.Pro482=)
c.1336C= (p.Pro446=)
c.1489C= (p.Pro497=)
c.1441C= (p.Pro481=)
c.1324C= (p.Pro442=)
c.1306C= (p.Pro436=)
3g.69965159C>GCA353559954MITFc.1426C>G (p.Pro476Ala)
c.1423C>G (p.Pro475Ala)
n.1648C>G
c.1399C>G (p.Pro467Ala)
c.*237C>G (n.*237C>G)
c.1492C>G (p.Pro498Ala)
c.1171C>G (p.Pro391Ala)
c.1471C>G (p.Pro491Ala)
c.1474C>G (p.Pro492Ala)
c.1153C>G (p.Pro385Ala)
c.1318C>G (p.Pro440Ala)
c.*818C>G (n.*818C>G)
c.985C>G (p.Pro329Ala)
c.1444C>G (p.Pro482Ala)
c.1336C>G (p.Pro446Ala)
c.1489C>G (p.Pro497Ala)
c.1441C>G (p.Pro481Ala)
c.1324C>G (p.Pro442Ala)
c.1306C>G (p.Pro436Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.69965159C>TCA353559955MITFc.1426C>T (p.Pro476Ser)
c.1423C>T (p.Pro475Ser)
n.1648C>T
c.1399C>T (p.Pro467Ser)
c.*237C>T (n.*237C>T)
c.1492C>T (p.Pro498Ser)
c.1171C>T (p.Pro391Ser)
c.1471C>T (p.Pro491Ser)
c.1474C>T (p.Pro492Ser)
c.1153C>T (p.Pro385Ser)
c.1318C>T (p.Pro440Ser)
c.*818C>T (n.*818C>T)
c.985C>T (p.Pro329Ser)
c.1444C>T (p.Pro482Ser)
c.1336C>T (p.Pro446Ser)
c.1489C>T (p.Pro497Ser)
c.1441C>T (p.Pro481Ser)
c.1324C>T (p.Pro442Ser)
c.1306C>T (p.Pro436Ser)
 dbSNP
3g.69965160delCA434433831MITFc.1427del (p.Pro476HisfsTer20)
c.1424del (p.Pro475HisfsTer20)
n.1649del
c.1400del (p.Pro467HisfsTer20)
c.*238del (n.*238del)
c.1493del (p.Pro498HisfsTer20)
c.1172del (p.Pro391HisfsTer20)
c.1472del (p.Pro491HisfsTer20)
c.1475del (p.Pro492HisfsTer20)
c.1154del (p.Pro385HisfsTer20)
c.1319del (p.Pro440HisfsTer20)
c.*819del (n.*819del)
c.986del (p.Pro329HisfsTer20)
c.1445del (p.Pro482HisfsTer20)
c.1337del (p.Pro446HisfsTer20)
c.1490del (p.Pro497HisfsTer20)
c.1442del (p.Pro481HisfsTer20)
c.1325del (p.Pro442HisfsTer20)
c.1307del (p.Pro436HisfsTer20)
 COSMIC COSMIC COSMIC COSMIC
3g.69965160C>ACA353559956MITFc.1427C>A (p.Pro476Gln)
c.1424C>A (p.Pro475Gln)
n.1649C>A
c.1400C>A (p.Pro467Gln)
c.*238C>A (n.*238C>A)
c.1493C>A (p.Pro498Gln)
c.1172C>A (p.Pro391Gln)
c.1472C>A (p.Pro491Gln)
c.1475C>A (p.Pro492Gln)
c.1154C>A (p.Pro385Gln)
c.1319C>A (p.Pro440Gln)
c.*819C>A (n.*819C>A)
c.986C>A (p.Pro329Gln)
c.1445C>A (p.Pro482Gln)
c.1337C>A (p.Pro446Gln)
c.1490C>A (p.Pro497Gln)
c.1442C>A (p.Pro481Gln)
c.1325C>A (p.Pro442Gln)
c.1307C>A (p.Pro436Gln)
3g.69965160C=CA1373414447MITFc.1427C= (p.Pro476=)
c.1424C= (p.Pro475=)
n.1649C=
c.1400C= (p.Pro467=)
c.*238C= (n.*238C=)
c.1493C= (p.Pro498=)
c.1172C= (p.Pro391=)
c.1472C= (p.Pro491=)
c.1475C= (p.Pro492=)
c.1154C= (p.Pro385=)
c.1319C= (p.Pro440=)
c.*819C= (n.*819C=)
c.986C= (p.Pro329=)
c.1445C= (p.Pro482=)
c.1337C= (p.Pro446=)
c.1490C= (p.Pro497=)
c.1442C= (p.Pro481=)
c.1325C= (p.Pro442=)
c.1307C= (p.Pro436=)
3g.69965160C>GCA353559957MITFc.1427C>G (p.Pro476Arg)
c.1424C>G (p.Pro475Arg)
n.1649C>G
c.1400C>G (p.Pro467Arg)
c.*238C>G (n.*238C>G)
c.1493C>G (p.Pro498Arg)
c.1172C>G (p.Pro391Arg)
c.1472C>G (p.Pro491Arg)
c.1475C>G (p.Pro492Arg)
c.1154C>G (p.Pro385Arg)
c.1319C>G (p.Pro440Arg)
c.*819C>G (n.*819C>G)
c.986C>G (p.Pro329Arg)
c.1445C>G (p.Pro482Arg)
c.1337C>G (p.Pro446Arg)
c.1490C>G (p.Pro497Arg)
c.1442C>G (p.Pro481Arg)
c.1325C>G (p.Pro442Arg)
c.1307C>G (p.Pro436Arg)
3g.69965160C>TCA353559958MITFc.1427C>T (p.Pro476Leu)
c.1424C>T (p.Pro475Leu)
n.1649C>T
c.1400C>T (p.Pro467Leu)
c.*238C>T (n.*238C>T)
c.1493C>T (p.Pro498Leu)
c.1172C>T (p.Pro391Leu)
c.1472C>T (p.Pro491Leu)
c.1475C>T (p.Pro492Leu)
c.1154C>T (p.Pro385Leu)
c.1319C>T (p.Pro440Leu)
c.*819C>T (n.*819C>T)
c.986C>T (p.Pro329Leu)
c.1445C>T (p.Pro482Leu)
c.1337C>T (p.Pro446Leu)
c.1490C>T (p.Pro497Leu)
c.1442C>T (p.Pro481Leu)
c.1325C>T (p.Pro442Leu)
c.1307C>T (p.Pro436Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.69965161A=CA1373414451MITFc.1428A= (p.Pro476=)
c.1425A= (p.Pro475=)
n.1650A=
c.1401A= (p.Pro467=)
c.*239A= (n.*239A=)
c.1494A= (p.Pro498=)
c.1173A= (p.Pro391=)
c.1473A= (p.Pro491=)
c.1476A= (p.Pro492=)
c.1155A= (p.Pro385=)
c.1320A= (p.Pro440=)
c.*820A= (n.*820A=)
c.987A= (p.Pro329=)
c.1446A= (p.Pro482=)
c.1338A= (p.Pro446=)
c.1491A= (p.Pro497=)
c.1443A= (p.Pro481=)
c.1326A= (p.Pro442=)
c.1308A= (p.Pro436=)
3g.69965161A>CCA2490686MITFc.1428A>C (p.Pro476=)
c.1425A>C (p.Pro475=)
n.1650A>C
c.1401A>C (p.Pro467=)
c.*239A>C (n.*239A>C)
c.1494A>C (p.Pro498=)
c.1173A>C (p.Pro391=)
c.1473A>C (p.Pro491=)
c.1476A>C (p.Pro492=)
c.1155A>C (p.Pro385=)
c.1320A>C (p.Pro440=)
c.*820A>C (n.*820A>C)
c.987A>C (p.Pro329=)
c.1446A>C (p.Pro482=)
c.1338A>C (p.Pro446=)
c.1491A>C (p.Pro497=)
c.1443A>C (p.Pro481=)
c.1326A>C (p.Pro442=)
c.1308A>C (p.Pro436=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.69965161A>GCA434433832MITFc.1428A>G (p.Pro476=)
c.1425A>G (p.Pro475=)
n.1650A>G
c.1401A>G (p.Pro467=)
c.*239A>G (n.*239A>G)
c.1494A>G (p.Pro498=)
c.1173A>G (p.Pro391=)
c.1473A>G (p.Pro491=)
c.1476A>G (p.Pro492=)
c.1155A>G (p.Pro385=)
c.1320A>G (p.Pro440=)
c.*820A>G (n.*820A>G)
c.987A>G (p.Pro329=)
c.1446A>G (p.Pro482=)
c.1338A>G (p.Pro446=)
c.1491A>G (p.Pro497=)
c.1443A>G (p.Pro481=)
c.1326A>G (p.Pro442=)
c.1308A>G (p.Pro436=)
 dbSNP
3g.69965161A>TCA434433833MITFc.1428A>T (p.Pro476=)
c.1425A>T (p.Pro475=)
n.1650A>T
c.1401A>T (p.Pro467=)
c.*239A>T (n.*239A>T)
c.1494A>T (p.Pro498=)
c.1173A>T (p.Pro391=)
c.1473A>T (p.Pro491=)
c.1476A>T (p.Pro492=)
c.1155A>T (p.Pro385=)
c.1320A>T (p.Pro440=)
c.*820A>T (n.*820A>T)
c.987A>T (p.Pro329=)
c.1446A>T (p.Pro482=)
c.1338A>T (p.Pro446=)
c.1491A>T (p.Pro497=)
c.1443A>T (p.Pro481=)
c.1326A>T (p.Pro442=)
c.1308A>T (p.Pro436=)
3g.69965162C>ACA353559959MITFc.1429C>A (p.Leu477Ile)
c.1426C>A (p.Leu476Ile)
n.1651C>A
c.1402C>A (p.Leu468Ile)
c.*240C>A (n.*240C>A)
c.1495C>A (p.Leu499Ile)
c.1174C>A (p.Leu392Ile)
c.1474C>A (p.Leu492Ile)
c.1477C>A (p.Leu493Ile)
c.1156C>A (p.Leu386Ile)
c.1321C>A (p.Leu441Ile)
c.*821C>A (n.*821C>A)
c.988C>A (p.Leu330Ile)
c.1447C>A (p.Leu483Ile)
c.1339C>A (p.Leu447Ile)
c.1492C>A (p.Leu498Ile)
c.1444C>A (p.Leu482Ile)
c.1327C>A (p.Leu443Ile)
c.1309C>A (p.Leu437Ile)
 dbSNP
3g.69965162C>GCA353559960MITFc.1429C>G (p.Leu477Val)
c.1426C>G (p.Leu476Val)
n.1651C>G
c.1402C>G (p.Leu468Val)
c.*240C>G (n.*240C>G)
c.1495C>G (p.Leu499Val)
c.1174C>G (p.Leu392Val)
c.1474C>G (p.Leu492Val)
c.1477C>G (p.Leu493Val)
c.1156C>G (p.Leu386Val)
c.1321C>G (p.Leu441Val)
c.*821C>G (n.*821C>G)
c.988C>G (p.Leu330Val)
c.1447C>G (p.Leu483Val)
c.1339C>G (p.Leu447Val)
c.1492C>G (p.Leu498Val)
c.1444C>G (p.Leu482Val)
c.1327C>G (p.Leu443Val)
c.1309C>G (p.Leu437Val)
3g.69965162C>TCA353559961MITFc.1429C>T (p.Leu477Phe)
c.1426C>T (p.Leu476Phe)
n.1651C>T
c.1402C>T (p.Leu468Phe)
c.*240C>T (n.*240C>T)
c.1495C>T (p.Leu499Phe)
c.1174C>T (p.Leu392Phe)
c.1474C>T (p.Leu492Phe)
c.1477C>T (p.Leu493Phe)
c.1156C>T (p.Leu386Phe)
c.1321C>T (p.Leu441Phe)
c.*821C>T (n.*821C>T)
c.988C>T (p.Leu330Phe)
c.1447C>T (p.Leu483Phe)
c.1339C>T (p.Leu447Phe)
c.1492C>T (p.Leu498Phe)
c.1444C>T (p.Leu482Phe)
c.1327C>T (p.Leu443Phe)
c.1309C>T (p.Leu437Phe)
 dbSNP
3g.69965163T>ACA353559963MITFc.1430T>A (p.Leu477His)
c.1427T>A (p.Leu476His)
n.1652T>A
c.1403T>A (p.Leu468His)
c.*241T>A (n.*241T>A)
c.1496T>A (p.Leu499His)
c.1175T>A (p.Leu392His)
c.1475T>A (p.Leu492His)
c.1478T>A (p.Leu493His)
c.1157T>A (p.Leu386His)
c.1322T>A (p.Leu441His)
c.*822T>A (n.*822T>A)
c.989T>A (p.Leu330His)
c.1448T>A (p.Leu483His)
c.1340T>A (p.Leu447His)
c.1493T>A (p.Leu498His)
c.1445T>A (p.Leu482His)
c.1328T>A (p.Leu443His)
c.1310T>A (p.Leu437His)
3g.69965163T>CCA353559964MITFc.1430T>C (p.Leu477Pro)
c.1427T>C (p.Leu476Pro)
n.1652T>C
c.1403T>C (p.Leu468Pro)
c.*241T>C (n.*241T>C)
c.1496T>C (p.Leu499Pro)
c.1175T>C (p.Leu392Pro)
c.1475T>C (p.Leu492Pro)
c.1478T>C (p.Leu493Pro)
c.1157T>C (p.Leu386Pro)
c.1322T>C (p.Leu441Pro)
c.*822T>C (n.*822T>C)
c.989T>C (p.Leu330Pro)
c.1448T>C (p.Leu483Pro)
c.1340T>C (p.Leu447Pro)
c.1493T>C (p.Leu498Pro)
c.1445T>C (p.Leu482Pro)
c.1328T>C (p.Leu443Pro)
c.1310T>C (p.Leu437Pro)
3g.69965163T>GCA353559962MITFc.1430T>G (p.Leu477Arg)
c.1427T>G (p.Leu476Arg)
n.1652T>G
c.1403T>G (p.Leu468Arg)
c.*241T>G (n.*241T>G)
c.1496T>G (p.Leu499Arg)
c.1175T>G (p.Leu392Arg)
c.1475T>G (p.Leu492Arg)
c.1478T>G (p.Leu493Arg)
c.1157T>G (p.Leu386Arg)
c.1322T>G (p.Leu441Arg)
c.*822T>G (n.*822T>G)
c.989T>G (p.Leu330Arg)
c.1448T>G (p.Leu483Arg)
c.1340T>G (p.Leu447Arg)
c.1493T>G (p.Leu498Arg)
c.1445T>G (p.Leu482Arg)
c.1328T>G (p.Leu443Arg)
c.1310T>G (p.Leu437Arg)
3g.69965164C>ACA434433834MITFc.1431C>A (p.Leu477=)
c.1428C>A (p.Leu476=)
n.1653C>A
c.1404C>A (p.Leu468=)
c.*242C>A (n.*242C>A)
c.1497C>A (p.Leu499=)
c.1176C>A (p.Leu392=)
c.1476C>A (p.Leu492=)
c.1479C>A (p.Leu493=)
c.1158C>A (p.Leu386=)
c.1323C>A (p.Leu441=)
c.*823C>A (n.*823C>A)
c.990C>A (p.Leu330=)
c.1449C>A (p.Leu483=)
c.1341C>A (p.Leu447=)
c.1494C>A (p.Leu498=)
c.1446C>A (p.Leu482=)
c.1329C>A (p.Leu443=)
c.1311C>A (p.Leu437=)
3g.69965164C=CA1373414452MITFc.1431C= (p.Leu477=)
c.1428C= (p.Leu476=)
n.1653C=
c.1404C= (p.Leu468=)
c.*242C= (n.*242C=)
c.1497C= (p.Leu499=)
c.1176C= (p.Leu392=)
c.1476C= (p.Leu492=)
c.1479C= (p.Leu493=)
c.1158C= (p.Leu386=)
c.1323C= (p.Leu441=)
c.*823C= (n.*823C=)
c.990C= (p.Leu330=)
c.1449C= (p.Leu483=)
c.1341C= (p.Leu447=)
c.1494C= (p.Leu498=)
c.1446C= (p.Leu482=)
c.1329C= (p.Leu443=)
c.1311C= (p.Leu437=)
3g.69965164C>GCA2490687MITFc.1431C>G (p.Leu477=)
c.1428C>G (p.Leu476=)
n.1653C>G
c.1404C>G (p.Leu468=)
c.*242C>G (n.*242C>G)
c.1497C>G (p.Leu499=)
c.1176C>G (p.Leu392=)
c.1476C>G (p.Leu492=)
c.1479C>G (p.Leu493=)
c.1158C>G (p.Leu386=)
c.1323C>G (p.Leu441=)
c.*823C>G (n.*823C>G)
c.990C>G (p.Leu330=)
c.1449C>G (p.Leu483=)
c.1341C>G (p.Leu447=)
c.1494C>G (p.Leu498=)
c.1446C>G (p.Leu482=)
c.1329C>G (p.Leu443=)
c.1311C>G (p.Leu437=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.69965164C>TCA434433835MITFc.1431C>T (p.Leu477=)
c.1428C>T (p.Leu476=)
n.1653C>T
c.1404C>T (p.Leu468=)
c.*242C>T (n.*242C>T)
c.1497C>T (p.Leu499=)
c.1176C>T (p.Leu392=)
c.1476C>T (p.Leu492=)
c.1479C>T (p.Leu493=)
c.1158C>T (p.Leu386=)
c.1323C>T (p.Leu441=)
c.*823C>T (n.*823C>T)
c.990C>T (p.Leu330=)
c.1449C>T (p.Leu483=)
c.1341C>T (p.Leu447=)
c.1494C>T (p.Leu498=)
c.1446C>T (p.Leu482=)
c.1329C>T (p.Leu443=)
c.1311C>T (p.Leu437=)
 COSMIC COSMIC COSMIC COSMIC
3g.69965165C>ACA353559965MITFc.1432C>A (p.Leu478Ile)
c.1429C>A (p.Leu477Ile)
n.1654C>A
c.1405C>A (p.Leu469Ile)
c.*243C>A (n.*243C>A)
c.1498C>A (p.Leu500Ile)
c.1177C>A (p.Leu393Ile)
c.1477C>A (p.Leu493Ile)
c.1480C>A (p.Leu494Ile)
c.1159C>A (p.Leu387Ile)
c.1324C>A (p.Leu442Ile)
c.*824C>A (n.*824C>A)
c.991C>A (p.Leu331Ile)
c.1450C>A (p.Leu484Ile)
c.1342C>A (p.Leu448Ile)
c.1495C>A (p.Leu499Ile)
c.1447C>A (p.Leu483Ile)
c.1330C>A (p.Leu444Ile)
c.1312C>A (p.Leu438Ile)
 dbSNP
3g.69965165C>GCA353559966MITFc.1432C>G (p.Leu478Val)
c.1429C>G (p.Leu477Val)
n.1654C>G
c.1405C>G (p.Leu469Val)
c.*243C>G (n.*243C>G)
c.1498C>G (p.Leu500Val)
c.1177C>G (p.Leu393Val)
c.1477C>G (p.Leu493Val)
c.1480C>G (p.Leu494Val)
c.1159C>G (p.Leu387Val)
c.1324C>G (p.Leu442Val)
c.*824C>G (n.*824C>G)
c.991C>G (p.Leu331Val)
c.1450C>G (p.Leu484Val)
c.1342C>G (p.Leu448Val)
c.1495C>G (p.Leu499Val)
c.1447C>G (p.Leu483Val)
c.1330C>G (p.Leu444Val)
c.1312C>G (p.Leu438Val)
3g.69965165C>TCA353559967MITFc.1432C>T (p.Leu478Phe)
c.1429C>T (p.Leu477Phe)
n.1654C>T
c.1405C>T (p.Leu469Phe)
c.*243C>T (n.*243C>T)
c.1498C>T (p.Leu500Phe)
c.1177C>T (p.Leu393Phe)
c.1477C>T (p.Leu493Phe)
c.1480C>T (p.Leu494Phe)
c.1159C>T (p.Leu387Phe)
c.1324C>T (p.Leu442Phe)
c.*824C>T (n.*824C>T)
c.991C>T (p.Leu331Phe)
c.1450C>T (p.Leu484Phe)
c.1342C>T (p.Leu448Phe)
c.1495C>T (p.Leu499Phe)
c.1447C>T (p.Leu483Phe)
c.1330C>T (p.Leu444Phe)
c.1312C>T (p.Leu438Phe)
3g.69965166T>ACA353559968MITFc.1433T>A (p.Leu478His)
c.1430T>A (p.Leu477His)
n.1655T>A
c.1406T>A (p.Leu469His)
c.*244T>A (n.*244T>A)
c.1499T>A (p.Leu500His)
c.1178T>A (p.Leu393His)
c.1478T>A (p.Leu493His)
c.1481T>A (p.Leu494His)
c.1160T>A (p.Leu387His)
c.1325T>A (p.Leu442His)
c.*825T>A (n.*825T>A)
c.992T>A (p.Leu331His)
c.1451T>A (p.Leu484His)
c.1343T>A (p.Leu448His)
c.1496T>A (p.Leu499His)
c.1448T>A (p.Leu483His)
c.1331T>A (p.Leu444His)
c.1313T>A (p.Leu438His)
3g.69965166T>CCA353559969MITFc.1433T>C (p.Leu478Pro)
c.1430T>C (p.Leu477Pro)
n.1655T>C
c.1406T>C (p.Leu469Pro)
c.*244T>C (n.*244T>C)
c.1499T>C (p.Leu500Pro)
c.1178T>C (p.Leu393Pro)
c.1478T>C (p.Leu493Pro)
c.1481T>C (p.Leu494Pro)
c.1160T>C (p.Leu387Pro)
c.1325T>C (p.Leu442Pro)
c.*825T>C (n.*825T>C)
c.992T>C (p.Leu331Pro)
c.1451T>C (p.Leu484Pro)
c.1343T>C (p.Leu448Pro)
c.1496T>C (p.Leu499Pro)
c.1448T>C (p.Leu483Pro)
c.1331T>C (p.Leu444Pro)
c.1313T>C (p.Leu438Pro)
3g.69965166T>GCA353559970MITFc.1433T>G (p.Leu478Arg)
c.1430T>G (p.Leu477Arg)
n.1655T>G
c.1406T>G (p.Leu469Arg)
c.*244T>G (n.*244T>G)
c.1499T>G (p.Leu500Arg)
c.1178T>G (p.Leu393Arg)
c.1478T>G (p.Leu493Arg)
c.1481T>G (p.Leu494Arg)
c.1160T>G (p.Leu387Arg)
c.1325T>G (p.Leu442Arg)
c.*825T>G (n.*825T>G)
c.992T>G (p.Leu331Arg)
c.1451T>G (p.Leu484Arg)
c.1343T>G (p.Leu448Arg)
c.1496T>G (p.Leu499Arg)
c.1448T>G (p.Leu483Arg)
c.1331T>G (p.Leu444Arg)
c.1313T>G (p.Leu438Arg)
3g.69965167T>ACA434433838MITFc.1434T>A (p.Leu478=)
c.1431T>A (p.Leu477=)
n.1656T>A
c.1407T>A (p.Leu469=)
c.*245T>A (n.*245T>A)
c.1500T>A (p.Leu500=)
c.1179T>A (p.Leu393=)
c.1479T>A (p.Leu493=)
c.1482T>A (p.Leu494=)
c.1161T>A (p.Leu387=)
c.1326T>A (p.Leu442=)
c.*826T>A (n.*826T>A)
c.993T>A (p.Leu331=)
c.1452T>A (p.Leu484=)
c.1344T>A (p.Leu448=)
c.1497T>A (p.Leu499=)
c.1449T>A (p.Leu483=)
c.1332T>A (p.Leu444=)
c.1314T>A (p.Leu438=)
3g.69965167T>CCA434433837MITFc.1434T>C (p.Leu478=)
c.1431T>C (p.Leu477=)
n.1656T>C
c.1407T>C (p.Leu469=)
c.*245T>C (n.*245T>C)
c.1500T>C (p.Leu500=)
c.1179T>C (p.Leu393=)
c.1479T>C (p.Leu493=)
c.1482T>C (p.Leu494=)
c.1161T>C (p.Leu387=)
c.1326T>C (p.Leu442=)
c.*826T>C (n.*826T>C)
c.993T>C (p.Leu331=)
c.1452T>C (p.Leu484=)
c.1344T>C (p.Leu448=)
c.1497T>C (p.Leu499=)
c.1449T>C (p.Leu483=)
c.1332T>C (p.Leu444=)
c.1314T>C (p.Leu438=)
3g.69965167T>GCA434433836MITFc.1434T>G (p.Leu478=)
c.1431T>G (p.Leu477=)
n.1656T>G
c.1407T>G (p.Leu469=)
c.*245T>G (n.*245T>G)
c.1500T>G (p.Leu500=)
c.1179T>G (p.Leu393=)
c.1479T>G (p.Leu493=)
c.1482T>G (p.Leu494=)
c.1161T>G (p.Leu387=)
c.1326T>G (p.Leu442=)
c.*826T>G (n.*826T>G)
c.993T>G (p.Leu331=)
c.1452T>G (p.Leu484=)
c.1344T>G (p.Leu448=)
c.1497T>G (p.Leu499=)
c.1449T>G (p.Leu483=)
c.1332T>G (p.Leu444=)
c.1314T>G (p.Leu438=)
 dbSNP gnomAD v4
3g.69965167T=CA1373414455MITFc.1434T= (p.Leu478=)
c.1431T= (p.Leu477=)
n.1656T=
c.1407T= (p.Leu469=)
c.*245T= (n.*245T=)
c.1500T= (p.Leu500=)
c.1179T= (p.Leu393=)
c.1479T= (p.Leu493=)
c.1482T= (p.Leu494=)
c.1161T= (p.Leu387=)
c.1326T= (p.Leu442=)
c.*826T= (n.*826T=)
c.993T= (p.Leu331=)
c.1452T= (p.Leu484=)
c.1344T= (p.Leu448=)
c.1497T= (p.Leu499=)
c.1449T= (p.Leu483=)
c.1332T= (p.Leu444=)
c.1314T= (p.Leu438=)
3g.69965168T>ACA353559971MITFc.1435T>A (p.Ser479Thr)
c.1432T>A (p.Ser478Thr)
n.1657T>A
c.1408T>A (p.Ser470Thr)
c.*246T>A (n.*246T>A)
c.1501T>A (p.Ser501Thr)
c.1180T>A (p.Ser394Thr)
c.1480T>A (p.Ser494Thr)
c.1483T>A (p.Ser495Thr)
c.1162T>A (p.Ser388Thr)
c.1327T>A (p.Ser443Thr)
c.*827T>A (n.*827T>A)
c.994T>A (p.Ser332Thr)
c.1453T>A (p.Ser485Thr)
c.1345T>A (p.Ser449Thr)
c.1498T>A (p.Ser500Thr)
c.1450T>A (p.Ser484Thr)
c.1333T>A (p.Ser445Thr)
c.1315T>A (p.Ser439Thr)
3g.69965168T>CCA353559972MITFc.1435T>C (p.Ser479Pro)
c.1432T>C (p.Ser478Pro)
n.1657T>C
c.1408T>C (p.Ser470Pro)
c.*246T>C (n.*246T>C)
c.1501T>C (p.Ser501Pro)
c.1180T>C (p.Ser394Pro)
c.1480T>C (p.Ser494Pro)
c.1483T>C (p.Ser495Pro)
c.1162T>C (p.Ser388Pro)
c.1327T>C (p.Ser443Pro)
c.*827T>C (n.*827T>C)
c.994T>C (p.Ser332Pro)
c.1453T>C (p.Ser485Pro)
c.1345T>C (p.Ser449Pro)
c.1498T>C (p.Ser500Pro)
c.1450T>C (p.Ser484Pro)
c.1333T>C (p.Ser445Pro)
c.1315T>C (p.Ser439Pro)
3g.69965168T>GCA353559973MITFc.1435T>G (p.Ser479Ala)
c.1432T>G (p.Ser478Ala)
n.1657T>G
c.1408T>G (p.Ser470Ala)
c.*246T>G (n.*246T>G)
c.1501T>G (p.Ser501Ala)
c.1180T>G (p.Ser394Ala)
c.1480T>G (p.Ser494Ala)
c.1483T>G (p.Ser495Ala)
c.1162T>G (p.Ser388Ala)
c.1327T>G (p.Ser443Ala)
c.*827T>G (n.*827T>G)
c.994T>G (p.Ser332Ala)
c.1453T>G (p.Ser485Ala)
c.1345T>G (p.Ser449Ala)
c.1498T>G (p.Ser500Ala)
c.1450T>G (p.Ser484Ala)
c.1333T>G (p.Ser445Ala)
c.1315T>G (p.Ser439Ala)
3g.69965169C>ACA353559974MITFc.1436C>A (p.Ser479Tyr)
c.1433C>A (p.Ser478Tyr)
n.1658C>A
c.1409C>A (p.Ser470Tyr)
c.*247C>A (n.*247C>A)
c.1502C>A (p.Ser501Tyr)
c.1181C>A (p.Ser394Tyr)
c.1481C>A (p.Ser494Tyr)
c.1484C>A (p.Ser495Tyr)
c.1163C>A (p.Ser388Tyr)
c.1328C>A (p.Ser443Tyr)
c.*828C>A (n.*828C>A)
c.995C>A (p.Ser332Tyr)
c.1454C>A (p.Ser485Tyr)
c.1346C>A (p.Ser449Tyr)
c.1499C>A (p.Ser500Tyr)
c.1451C>A (p.Ser484Tyr)
c.1334C>A (p.Ser445Tyr)
c.1316C>A (p.Ser439Tyr)
3g.69965169C=CA1373414456MITFc.1436C= (p.Ser479=)
c.1433C= (p.Ser478=)
n.1658C=
c.1409C= (p.Ser470=)
c.*247C= (n.*247C=)
c.1502C= (p.Ser501=)
c.1181C= (p.Ser394=)
c.1481C= (p.Ser494=)
c.1484C= (p.Ser495=)
c.1163C= (p.Ser388=)
c.1328C= (p.Ser443=)
c.*828C= (n.*828C=)
c.995C= (p.Ser332=)
c.1454C= (p.Ser485=)
c.1346C= (p.Ser449=)
c.1499C= (p.Ser500=)
c.1451C= (p.Ser484=)
c.1334C= (p.Ser445=)
c.1316C= (p.Ser439=)
3g.69965169C>GCA353559975MITFc.1436C>G (p.Ser479Cys)
c.1433C>G (p.Ser478Cys)
n.1658C>G
c.1409C>G (p.Ser470Cys)
c.*247C>G (n.*247C>G)
c.1502C>G (p.Ser501Cys)
c.1181C>G (p.Ser394Cys)
c.1481C>G (p.Ser494Cys)
c.1484C>G (p.Ser495Cys)
c.1163C>G (p.Ser388Cys)
c.1328C>G (p.Ser443Cys)
c.*828C>G (n.*828C>G)
c.995C>G (p.Ser332Cys)
c.1454C>G (p.Ser485Cys)
c.1346C>G (p.Ser449Cys)
c.1499C>G (p.Ser500Cys)
c.1451C>G (p.Ser484Cys)
c.1334C>G (p.Ser445Cys)
c.1316C>G (p.Ser439Cys)
3g.69965169C>TCA353559976MITFc.1436C>T (p.Ser479Phe)
c.1433C>T (p.Ser478Phe)
n.1658C>T
c.1409C>T (p.Ser470Phe)
c.*247C>T (n.*247C>T)
c.1502C>T (p.Ser501Phe)
c.1181C>T (p.Ser394Phe)
c.1481C>T (p.Ser494Phe)
c.1484C>T (p.Ser495Phe)
c.1163C>T (p.Ser388Phe)
c.1328C>T (p.Ser443Phe)
c.*828C>T (n.*828C>T)
c.995C>T (p.Ser332Phe)
c.1454C>T (p.Ser485Phe)
c.1346C>T (p.Ser449Phe)
c.1499C>T (p.Ser500Phe)
c.1451C>T (p.Ser484Phe)
c.1334C>T (p.Ser445Phe)
c.1316C>T (p.Ser439Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched