Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
3g.69965170C>ACA434433839MITFc.1437C>A (p.Ser479=)
c.1434C>A (p.Ser478=)
n.1659C>A
c.1410C>A (p.Ser470=)
c.*248C>A (n.*248C>A)
c.1503C>A (p.Ser501=)
c.1182C>A (p.Ser394=)
c.1482C>A (p.Ser494=)
c.1485C>A (p.Ser495=)
c.1164C>A (p.Ser388=)
c.1329C>A (p.Ser443=)
c.*829C>A (n.*829C>A)
c.996C>A (p.Ser332=)
c.1455C>A (p.Ser485=)
c.1347C>A (p.Ser449=)
c.1500C>A (p.Ser500=)
c.1452C>A (p.Ser484=)
c.1335C>A (p.Ser445=)
c.1317C>A (p.Ser439=)
3g.69965170C>GCA434433840MITFc.1437C>G (p.Ser479=)
c.1434C>G (p.Ser478=)
n.1659C>G
c.1410C>G (p.Ser470=)
c.*248C>G (n.*248C>G)
c.1503C>G (p.Ser501=)
c.1182C>G (p.Ser394=)
c.1482C>G (p.Ser494=)
c.1485C>G (p.Ser495=)
c.1164C>G (p.Ser388=)
c.1329C>G (p.Ser443=)
c.*829C>G (n.*829C>G)
c.996C>G (p.Ser332=)
c.1455C>G (p.Ser485=)
c.1347C>G (p.Ser449=)
c.1500C>G (p.Ser500=)
c.1452C>G (p.Ser484=)
c.1335C>G (p.Ser445=)
c.1317C>G (p.Ser439=)
3g.69965170C>TCA434433841MITFc.1437C>T (p.Ser479=)
c.1434C>T (p.Ser478=)
n.1659C>T
c.1410C>T (p.Ser470=)
c.*248C>T (n.*248C>T)
c.1503C>T (p.Ser501=)
c.1182C>T (p.Ser394=)
c.1482C>T (p.Ser494=)
c.1485C>T (p.Ser495=)
c.1164C>T (p.Ser388=)
c.1329C>T (p.Ser443=)
c.*829C>T (n.*829C>T)
c.996C>T (p.Ser332=)
c.1455C>T (p.Ser485=)
c.1347C>T (p.Ser449=)
c.1500C>T (p.Ser500=)
c.1452C>T (p.Ser484=)
c.1335C>T (p.Ser445=)
c.1317C>T (p.Ser439=)
 dbSNP
3g.69965171T>ACA353559979MITFc.1438T>A (p.Ser480Thr)
c.1435T>A (p.Ser479Thr)
n.1660T>A
c.1411T>A (p.Ser471Thr)
c.*249T>A (n.*249T>A)
c.1504T>A (p.Ser502Thr)
c.1183T>A (p.Ser395Thr)
c.1483T>A (p.Ser495Thr)
c.1486T>A (p.Ser496Thr)
c.1165T>A (p.Ser389Thr)
c.1330T>A (p.Ser444Thr)
c.*830T>A (n.*830T>A)
c.997T>A (p.Ser333Thr)
c.1456T>A (p.Ser486Thr)
c.1348T>A (p.Ser450Thr)
c.1501T>A (p.Ser501Thr)
c.1453T>A (p.Ser485Thr)
c.1336T>A (p.Ser446Thr)
c.1318T>A (p.Ser440Thr)
 dbSNP gnomAD v2 gnomAD v4
3g.69965171T>CCA353559978MITFc.1438T>C (p.Ser480Pro)
c.1435T>C (p.Ser479Pro)
n.1660T>C
c.1411T>C (p.Ser471Pro)
c.*249T>C (n.*249T>C)
c.1504T>C (p.Ser502Pro)
c.1183T>C (p.Ser395Pro)
c.1483T>C (p.Ser495Pro)
c.1486T>C (p.Ser496Pro)
c.1165T>C (p.Ser389Pro)
c.1330T>C (p.Ser444Pro)
c.*830T>C (n.*830T>C)
c.997T>C (p.Ser333Pro)
c.1456T>C (p.Ser486Pro)
c.1348T>C (p.Ser450Pro)
c.1501T>C (p.Ser501Pro)
c.1453T>C (p.Ser485Pro)
c.1336T>C (p.Ser446Pro)
c.1318T>C (p.Ser440Pro)
3g.69965171T>GCA353559977MITFc.1438T>G (p.Ser480Ala)
c.1435T>G (p.Ser479Ala)
n.1660T>G
c.1411T>G (p.Ser471Ala)
c.*249T>G (n.*249T>G)
c.1504T>G (p.Ser502Ala)
c.1183T>G (p.Ser395Ala)
c.1483T>G (p.Ser495Ala)
c.1486T>G (p.Ser496Ala)
c.1165T>G (p.Ser389Ala)
c.1330T>G (p.Ser444Ala)
c.*830T>G (n.*830T>G)
c.997T>G (p.Ser333Ala)
c.1456T>G (p.Ser486Ala)
c.1348T>G (p.Ser450Ala)
c.1501T>G (p.Ser501Ala)
c.1453T>G (p.Ser485Ala)
c.1336T>G (p.Ser446Ala)
c.1318T>G (p.Ser440Ala)
3g.69965171T=CA1373414459MITFc.1438T= (p.Ser480=)
c.1435T= (p.Ser479=)
n.1660T=
c.1411T= (p.Ser471=)
c.*249T= (n.*249T=)
c.1504T= (p.Ser502=)
c.1183T= (p.Ser395=)
c.1483T= (p.Ser495=)
c.1486T= (p.Ser496=)
c.1165T= (p.Ser389=)
c.1330T= (p.Ser444=)
c.*830T= (n.*830T=)
c.997T= (p.Ser333=)
c.1456T= (p.Ser486=)
c.1348T= (p.Ser450=)
c.1501T= (p.Ser501=)
c.1453T= (p.Ser485=)
c.1336T= (p.Ser446=)
c.1318T= (p.Ser440=)
3g.69965172C>ACA353559980MITFc.1439C>A (p.Ser480Ter)
c.1436C>A (p.Ser479Ter)
n.1661C>A
c.1412C>A (p.Ser471Ter)
c.*250C>A (n.*250C>A)
c.1505C>A (p.Ser502Ter)
c.1184C>A (p.Ser395Ter)
c.1484C>A (p.Ser495Ter)
c.1487C>A (p.Ser496Ter)
c.1166C>A (p.Ser389Ter)
c.1331C>A (p.Ser444Ter)
c.*831C>A (n.*831C>A)
c.998C>A (p.Ser333Ter)
c.1457C>A (p.Ser486Ter)
c.1349C>A (p.Ser450Ter)
c.1502C>A (p.Ser501Ter)
c.1454C>A (p.Ser485Ter)
c.1337C>A (p.Ser446Ter)
c.1319C>A (p.Ser440Ter)
 dbSNP
3g.69965172C>GCA353559981MITFc.1439C>G (p.Ser480Ter)
c.1436C>G (p.Ser479Ter)
n.1661C>G
c.1412C>G (p.Ser471Ter)
c.*250C>G (n.*250C>G)
c.1505C>G (p.Ser502Ter)
c.1184C>G (p.Ser395Ter)
c.1484C>G (p.Ser495Ter)
c.1487C>G (p.Ser496Ter)
c.1166C>G (p.Ser389Ter)
c.1331C>G (p.Ser444Ter)
c.*831C>G (n.*831C>G)
c.998C>G (p.Ser333Ter)
c.1457C>G (p.Ser486Ter)
c.1349C>G (p.Ser450Ter)
c.1502C>G (p.Ser501Ter)
c.1454C>G (p.Ser485Ter)
c.1337C>G (p.Ser446Ter)
c.1319C>G (p.Ser440Ter)
 dbSNP
3g.69965172C>TCA353559982MITFc.1439C>T (p.Ser480Leu)
c.1436C>T (p.Ser479Leu)
n.1661C>T
c.1412C>T (p.Ser471Leu)
c.*250C>T (n.*250C>T)
c.1505C>T (p.Ser502Leu)
c.1184C>T (p.Ser395Leu)
c.1484C>T (p.Ser495Leu)
c.1487C>T (p.Ser496Leu)
c.1166C>T (p.Ser389Leu)
c.1331C>T (p.Ser444Leu)
c.*831C>T (n.*831C>T)
c.998C>T (p.Ser333Leu)
c.1457C>T (p.Ser486Leu)
c.1349C>T (p.Ser450Leu)
c.1502C>T (p.Ser501Leu)
c.1454C>T (p.Ser485Leu)
c.1337C>T (p.Ser446Leu)
c.1319C>T (p.Ser440Leu)
 dbSNP gnomAD v4
3g.69965173A=CA1373414461MITFc.1440A= (p.Ser480=)
c.1437A= (p.Ser479=)
n.1662A=
c.1413A= (p.Ser471=)
c.*251A= (n.*251A=)
c.1506A= (p.Ser502=)
c.1185A= (p.Ser395=)
c.1485A= (p.Ser495=)
c.1488A= (p.Ser496=)
c.1167A= (p.Ser389=)
c.1332A= (p.Ser444=)
c.*832A= (n.*832A=)
c.999A= (p.Ser333=)
c.1458A= (p.Ser486=)
c.1350A= (p.Ser450=)
c.1503A= (p.Ser501=)
c.1455A= (p.Ser485=)
c.1338A= (p.Ser446=)
c.1320A= (p.Ser440=)
3g.69965173A>CCA434433842MITFc.1440A>C (p.Ser480=)
c.1437A>C (p.Ser479=)
n.1662A>C
c.1413A>C (p.Ser471=)
c.*251A>C (n.*251A>C)
c.1506A>C (p.Ser502=)
c.1185A>C (p.Ser395=)
c.1485A>C (p.Ser495=)
c.1488A>C (p.Ser496=)
c.1167A>C (p.Ser389=)
c.1332A>C (p.Ser444=)
c.*832A>C (n.*832A>C)
c.999A>C (p.Ser333=)
c.1458A>C (p.Ser486=)
c.1350A>C (p.Ser450=)
c.1503A>C (p.Ser501=)
c.1455A>C (p.Ser485=)
c.1338A>C (p.Ser446=)
c.1320A>C (p.Ser440=)
3g.69965173A>GCA434433843MITFc.1440A>G (p.Ser480=)
c.1437A>G (p.Ser479=)
n.1662A>G
c.1413A>G (p.Ser471=)
c.*251A>G (n.*251A>G)
c.1506A>G (p.Ser502=)
c.1185A>G (p.Ser395=)
c.1485A>G (p.Ser495=)
c.1488A>G (p.Ser496=)
c.1167A>G (p.Ser389=)
c.1332A>G (p.Ser444=)
c.*832A>G (n.*832A>G)
c.999A>G (p.Ser333=)
c.1458A>G (p.Ser486=)
c.1350A>G (p.Ser450=)
c.1503A>G (p.Ser501=)
c.1455A>G (p.Ser485=)
c.1338A>G (p.Ser446=)
c.1320A>G (p.Ser440=)
 ClinVar dbSNP gnomAD v4
3g.69965173A>TCA434433844MITFc.1440A>T (p.Ser480=)
c.1437A>T (p.Ser479=)
n.1662A>T
c.1413A>T (p.Ser471=)
c.*251A>T (n.*251A>T)
c.1506A>T (p.Ser502=)
c.1185A>T (p.Ser395=)
c.1485A>T (p.Ser495=)
c.1488A>T (p.Ser496=)
c.1167A>T (p.Ser389=)
c.1332A>T (p.Ser444=)
c.*832A>T (n.*832A>T)
c.999A>T (p.Ser333=)
c.1458A>T (p.Ser486=)
c.1350A>T (p.Ser450=)
c.1503A>T (p.Ser501=)
c.1455A>T (p.Ser485=)
c.1338A>T (p.Ser446=)
c.1320A>T (p.Ser440=)
 ClinVar
3g.69965174G>ACA77003529MITFc.1441G>A (p.Val481Met)
c.1438G>A (p.Val480Met)
n.1663G>A
c.1414G>A (p.Val472Met)
c.*252G>A (n.*252G>A)
c.1507G>A (p.Val503Met)
c.1186G>A (p.Val396Met)
c.1486G>A (p.Val496Met)
c.1489G>A (p.Val497Met)
c.1168G>A (p.Val390Met)
c.1333G>A (p.Val445Met)
c.*833G>A (n.*833G>A)
c.1000G>A (p.Val334Met)
c.1459G>A (p.Val487Met)
c.1351G>A (p.Val451Met)
c.1504G>A (p.Val502Met)
c.1456G>A (p.Val486Met)
c.1339G>A (p.Val447Met)
c.1321G>A (p.Val441Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.69965174G>CCA353559983MITFc.1441G>C (p.Val481Leu)
c.1438G>C (p.Val480Leu)
n.1663G>C
c.1414G>C (p.Val472Leu)
c.*252G>C (n.*252G>C)
c.1507G>C (p.Val503Leu)
c.1186G>C (p.Val396Leu)
c.1486G>C (p.Val496Leu)
c.1489G>C (p.Val497Leu)
c.1168G>C (p.Val390Leu)
c.1333G>C (p.Val445Leu)
c.*833G>C (n.*833G>C)
c.1000G>C (p.Val334Leu)
c.1459G>C (p.Val487Leu)
c.1351G>C (p.Val451Leu)
c.1504G>C (p.Val502Leu)
c.1456G>C (p.Val486Leu)
c.1339G>C (p.Val447Leu)
c.1321G>C (p.Val441Leu)
 dbSNP
3g.69965174G=CA1373414463MITFc.1441G= (p.Val481=)
c.1438G= (p.Val480=)
n.1663G=
c.1414G= (p.Val472=)
c.*252G= (n.*252G=)
c.1507G= (p.Val503=)
c.1186G= (p.Val396=)
c.1486G= (p.Val496=)
c.1489G= (p.Val497=)
c.1168G= (p.Val390=)
c.1333G= (p.Val445=)
c.*833G= (n.*833G=)
c.1000G= (p.Val334=)
c.1459G= (p.Val487=)
c.1351G= (p.Val451=)
c.1504G= (p.Val502=)
c.1456G= (p.Val486=)
c.1339G= (p.Val447=)
c.1321G= (p.Val441=)
3g.69965174G>TCA353559984MITFc.1441G>T (p.Val481Leu)
c.1438G>T (p.Val480Leu)
n.1663G>T
c.1414G>T (p.Val472Leu)
c.*252G>T (n.*252G>T)
c.1507G>T (p.Val503Leu)
c.1186G>T (p.Val396Leu)
c.1486G>T (p.Val496Leu)
c.1489G>T (p.Val497Leu)
c.1168G>T (p.Val390Leu)
c.1333G>T (p.Val445Leu)
c.*833G>T (n.*833G>T)
c.1000G>T (p.Val334Leu)
c.1459G>T (p.Val487Leu)
c.1351G>T (p.Val451Leu)
c.1504G>T (p.Val502Leu)
c.1456G>T (p.Val486Leu)
c.1339G>T (p.Val447Leu)
c.1321G>T (p.Val441Leu)
3g.69965175T>ACA353559985MITFc.1442T>A (p.Val481Glu)
c.1439T>A (p.Val480Glu)
n.1664T>A
c.1415T>A (p.Val472Glu)
c.*253T>A (n.*253T>A)
c.1508T>A (p.Val503Glu)
c.1187T>A (p.Val396Glu)
c.1487T>A (p.Val496Glu)
c.1490T>A (p.Val497Glu)
c.1169T>A (p.Val390Glu)
c.1334T>A (p.Val445Glu)
c.*834T>A (n.*834T>A)
c.1001T>A (p.Val334Glu)
c.1460T>A (p.Val487Glu)
c.1352T>A (p.Val451Glu)
c.1505T>A (p.Val502Glu)
c.1457T>A (p.Val486Glu)
c.1340T>A (p.Val447Glu)
c.1322T>A (p.Val441Glu)
3g.69965175T>CCA353559986MITFc.1442T>C (p.Val481Ala)
c.1439T>C (p.Val480Ala)
n.1664T>C
c.1415T>C (p.Val472Ala)
c.*253T>C (n.*253T>C)
c.1508T>C (p.Val503Ala)
c.1187T>C (p.Val396Ala)
c.1487T>C (p.Val496Ala)
c.1490T>C (p.Val497Ala)
c.1169T>C (p.Val390Ala)
c.1334T>C (p.Val445Ala)
c.*834T>C (n.*834T>C)
c.1001T>C (p.Val334Ala)
c.1460T>C (p.Val487Ala)
c.1352T>C (p.Val451Ala)
c.1505T>C (p.Val502Ala)
c.1457T>C (p.Val486Ala)
c.1340T>C (p.Val447Ala)
c.1322T>C (p.Val441Ala)
 gnomAD v4
3g.69965175T>GCA353559987MITFc.1442T>G (p.Val481Gly)
c.1439T>G (p.Val480Gly)
n.1664T>G
c.1415T>G (p.Val472Gly)
c.*253T>G (n.*253T>G)
c.1508T>G (p.Val503Gly)
c.1187T>G (p.Val396Gly)
c.1487T>G (p.Val496Gly)
c.1490T>G (p.Val497Gly)
c.1169T>G (p.Val390Gly)
c.1334T>G (p.Val445Gly)
c.*834T>G (n.*834T>G)
c.1001T>G (p.Val334Gly)
c.1460T>G (p.Val487Gly)
c.1352T>G (p.Val451Gly)
c.1505T>G (p.Val502Gly)
c.1457T>G (p.Val486Gly)
c.1340T>G (p.Val447Gly)
c.1322T>G (p.Val441Gly)
3g.69965176G>ACA434433845MITFc.1443G>A (p.Val481=)
c.1440G>A (p.Val480=)
n.1665G>A
c.1416G>A (p.Val472=)
c.*254G>A (n.*254G>A)
c.1509G>A (p.Val503=)
c.1188G>A (p.Val396=)
c.1488G>A (p.Val496=)
c.1491G>A (p.Val497=)
c.1170G>A (p.Val390=)
c.1335G>A (p.Val445=)
c.*835G>A (n.*835G>A)
c.1002G>A (p.Val334=)
c.1461G>A (p.Val487=)
c.1353G>A (p.Val451=)
c.1506G>A (p.Val502=)
c.1458G>A (p.Val486=)
c.1341G>A (p.Val447=)
c.1323G>A (p.Val441=)
 dbSNP
3g.69965176G>CCA434433846MITFc.1443G>C (p.Val481=)
c.1440G>C (p.Val480=)
n.1665G>C
c.1416G>C (p.Val472=)
c.*254G>C (n.*254G>C)
c.1509G>C (p.Val503=)
c.1188G>C (p.Val396=)
c.1488G>C (p.Val496=)
c.1491G>C (p.Val497=)
c.1170G>C (p.Val390=)
c.1335G>C (p.Val445=)
c.*835G>C (n.*835G>C)
c.1002G>C (p.Val334=)
c.1461G>C (p.Val487=)
c.1353G>C (p.Val451=)
c.1506G>C (p.Val502=)
c.1458G>C (p.Val486=)
c.1341G>C (p.Val447=)
c.1323G>C (p.Val441=)
3g.69965176G>TCA434433847MITFc.1443G>T (p.Val481=)
c.1440G>T (p.Val480=)
n.1665G>T
c.1416G>T (p.Val472=)
c.*254G>T (n.*254G>T)
c.1509G>T (p.Val503=)
c.1188G>T (p.Val396=)
c.1488G>T (p.Val496=)
c.1491G>T (p.Val497=)
c.1170G>T (p.Val390=)
c.1335G>T (p.Val445=)
c.*835G>T (n.*835G>T)
c.1002G>T (p.Val334=)
c.1461G>T (p.Val487=)
c.1353G>T (p.Val451=)
c.1506G>T (p.Val502=)
c.1458G>T (p.Val486=)
c.1341G>T (p.Val447=)
c.1323G>T (p.Val441=)
3g.69965177T>ACA353559988MITFc.1444T>A (p.Ser482Thr)
c.1441T>A (p.Ser481Thr)
n.1666T>A
c.1417T>A (p.Ser473Thr)
c.*255T>A (n.*255T>A)
c.1510T>A (p.Ser504Thr)
c.1189T>A (p.Ser397Thr)
c.1489T>A (p.Ser497Thr)
c.1492T>A (p.Ser498Thr)
c.1171T>A (p.Ser391Thr)
c.1336T>A (p.Ser446Thr)
c.*836T>A (n.*836T>A)
c.1003T>A (p.Ser335Thr)
c.1462T>A (p.Ser488Thr)
c.1354T>A (p.Ser452Thr)
c.1507T>A (p.Ser503Thr)
c.1459T>A (p.Ser487Thr)
c.1342T>A (p.Ser448Thr)
c.1324T>A (p.Ser442Thr)
3g.69965177T>CCA353559989MITFc.1444T>C (p.Ser482Pro)
c.1441T>C (p.Ser481Pro)
n.1666T>C
c.1417T>C (p.Ser473Pro)
c.*255T>C (n.*255T>C)
c.1510T>C (p.Ser504Pro)
c.1189T>C (p.Ser397Pro)
c.1489T>C (p.Ser497Pro)
c.1492T>C (p.Ser498Pro)
c.1171T>C (p.Ser391Pro)
c.1336T>C (p.Ser446Pro)
c.*836T>C (n.*836T>C)
c.1003T>C (p.Ser335Pro)
c.1462T>C (p.Ser488Pro)
c.1354T>C (p.Ser452Pro)
c.1507T>C (p.Ser503Pro)
c.1459T>C (p.Ser487Pro)
c.1342T>C (p.Ser448Pro)
c.1324T>C (p.Ser442Pro)
3g.69965177T>GCA353559990MITFc.1444T>G (p.Ser482Ala)
c.1441T>G (p.Ser481Ala)
n.1666T>G
c.1417T>G (p.Ser473Ala)
c.*255T>G (n.*255T>G)
c.1510T>G (p.Ser504Ala)
c.1189T>G (p.Ser397Ala)
c.1489T>G (p.Ser497Ala)
c.1492T>G (p.Ser498Ala)
c.1171T>G (p.Ser391Ala)
c.1336T>G (p.Ser446Ala)
c.*836T>G (n.*836T>G)
c.1003T>G (p.Ser335Ala)
c.1462T>G (p.Ser488Ala)
c.1354T>G (p.Ser452Ala)
c.1507T>G (p.Ser503Ala)
c.1459T>G (p.Ser487Ala)
c.1342T>G (p.Ser448Ala)
c.1324T>G (p.Ser442Ala)
3g.69965178C>ACA353559993MITFc.1445C>A (p.Ser482Tyr)
c.1442C>A (p.Ser481Tyr)
n.1667C>A
c.1418C>A (p.Ser473Tyr)
c.*256C>A (n.*256C>A)
c.1511C>A (p.Ser504Tyr)
c.1190C>A (p.Ser397Tyr)
c.1490C>A (p.Ser497Tyr)
c.1493C>A (p.Ser498Tyr)
c.1172C>A (p.Ser391Tyr)
c.1337C>A (p.Ser446Tyr)
c.*837C>A (n.*837C>A)
c.1004C>A (p.Ser335Tyr)
c.1463C>A (p.Ser488Tyr)
c.1355C>A (p.Ser452Tyr)
c.1508C>A (p.Ser503Tyr)
c.1460C>A (p.Ser487Tyr)
c.1343C>A (p.Ser448Tyr)
c.1325C>A (p.Ser442Tyr)
3g.69965178C>GCA353559992MITFc.1445C>G (p.Ser482Cys)
c.1442C>G (p.Ser481Cys)
n.1667C>G
c.1418C>G (p.Ser473Cys)
c.*256C>G (n.*256C>G)
c.1511C>G (p.Ser504Cys)
c.1190C>G (p.Ser397Cys)
c.1490C>G (p.Ser497Cys)
c.1493C>G (p.Ser498Cys)
c.1172C>G (p.Ser391Cys)
c.1337C>G (p.Ser446Cys)
c.*837C>G (n.*837C>G)
c.1004C>G (p.Ser335Cys)
c.1463C>G (p.Ser488Cys)
c.1355C>G (p.Ser452Cys)
c.1508C>G (p.Ser503Cys)
c.1460C>G (p.Ser487Cys)
c.1343C>G (p.Ser448Cys)
c.1325C>G (p.Ser442Cys)
 ClinVar gnomAD v4
3g.69965178C>TCA353559991MITFc.1445C>T (p.Ser482Phe)
c.1442C>T (p.Ser481Phe)
n.1667C>T
c.1418C>T (p.Ser473Phe)
c.*256C>T (n.*256C>T)
c.1511C>T (p.Ser504Phe)
c.1190C>T (p.Ser397Phe)
c.1490C>T (p.Ser497Phe)
c.1493C>T (p.Ser498Phe)
c.1172C>T (p.Ser391Phe)
c.1337C>T (p.Ser446Phe)
c.*837C>T (n.*837C>T)
c.1004C>T (p.Ser335Phe)
c.1463C>T (p.Ser488Phe)
c.1355C>T (p.Ser452Phe)
c.1508C>T (p.Ser503Phe)
c.1460C>T (p.Ser487Phe)
c.1343C>T (p.Ser448Phe)
c.1325C>T (p.Ser442Phe)
 dbSNP COSMIC COSMIC COSMIC COSMIC
3g.69965182delCA645533384MITFc.1449del (p.Gly484GlufsTer12)
c.1446del (p.Gly483GlufsTer12)
n.1671del
c.1422del (p.Gly475GlufsTer12)
c.*260del (n.*260del)
c.1515del (p.Gly506GlufsTer12)
c.1194del (p.Gly399GlufsTer12)
c.1494del (p.Gly499GlufsTer12)
c.1497del (p.Gly500GlufsTer12)
c.1176del (p.Gly393GlufsTer12)
c.1341del (p.Gly448GlufsTer12)
c.*841del (n.*841del)
c.1008del (p.Gly337GlufsTer12)
c.1467del (p.Gly490GlufsTer12)
c.1359del (p.Gly454GlufsTer12)
c.1512del (p.Gly505GlufsTer12)
c.1464del (p.Gly489GlufsTer12)
c.1347del (p.Gly450GlufsTer12)
c.1329del (p.Gly444GlufsTer12)
 dbSNP COSMIC COSMIC COSMIC COSMIC
3g.69965179C>ACA434433848MITFc.1446C>A (p.Ser482=)
c.1443C>A (p.Ser481=)
n.1668C>A
c.1419C>A (p.Ser473=)
c.*257C>A (n.*257C>A)
c.1512C>A (p.Ser504=)
c.1191C>A (p.Ser397=)
c.1491C>A (p.Ser497=)
c.1494C>A (p.Ser498=)
c.1173C>A (p.Ser391=)
c.1338C>A (p.Ser446=)
c.*838C>A (n.*838C>A)
c.1005C>A (p.Ser335=)
c.1464C>A (p.Ser488=)
c.1356C>A (p.Ser452=)
c.1509C>A (p.Ser503=)
c.1461C>A (p.Ser487=)
c.1344C>A (p.Ser448=)
c.1326C>A (p.Ser442=)
 dbSNP gnomAD v2
3g.69965179C=CA1373414466MITFc.1446C= (p.Ser482=)
c.1443C= (p.Ser481=)
n.1668C=
c.1419C= (p.Ser473=)
c.*257C= (n.*257C=)
c.1512C= (p.Ser504=)
c.1191C= (p.Ser397=)
c.1491C= (p.Ser497=)
c.1494C= (p.Ser498=)
c.1173C= (p.Ser391=)
c.1338C= (p.Ser446=)
c.*838C= (n.*838C=)
c.1005C= (p.Ser335=)
c.1464C= (p.Ser488=)
c.1356C= (p.Ser452=)
c.1509C= (p.Ser503=)
c.1461C= (p.Ser487=)
c.1344C= (p.Ser448=)
c.1326C= (p.Ser442=)
3g.69965179C>GCA434433849MITFc.1446C>G (p.Ser482=)
c.1443C>G (p.Ser481=)
n.1668C>G
c.1419C>G (p.Ser473=)
c.*257C>G (n.*257C>G)
c.1512C>G (p.Ser504=)
c.1191C>G (p.Ser397=)
c.1491C>G (p.Ser497=)
c.1494C>G (p.Ser498=)
c.1173C>G (p.Ser391=)
c.1338C>G (p.Ser446=)
c.*838C>G (n.*838C>G)
c.1005C>G (p.Ser335=)
c.1464C>G (p.Ser488=)
c.1356C>G (p.Ser452=)
c.1509C>G (p.Ser503=)
c.1461C>G (p.Ser487=)
c.1344C>G (p.Ser448=)
c.1326C>G (p.Ser442=)
 gnomAD v3 gnomAD v4
3g.69965179C>TCA434433850MITFc.1446C>T (p.Ser482=)
c.1443C>T (p.Ser481=)
n.1668C>T
c.1419C>T (p.Ser473=)
c.*257C>T (n.*257C>T)
c.1512C>T (p.Ser504=)
c.1191C>T (p.Ser397=)
c.1491C>T (p.Ser497=)
c.1494C>T (p.Ser498=)
c.1173C>T (p.Ser391=)
c.1338C>T (p.Ser446=)
c.*838C>T (n.*838C>T)
c.1005C>T (p.Ser335=)
c.1464C>T (p.Ser488=)
c.1356C>T (p.Ser452=)
c.1509C>T (p.Ser503=)
c.1461C>T (p.Ser487=)
c.1344C>T (p.Ser448=)
c.1326C>T (p.Ser442=)
 dbSNP
3g.69965180C>ACA353559994MITFc.1447C>A (p.Pro483Thr)
c.1444C>A (p.Pro482Thr)
n.1669C>A
c.1420C>A (p.Pro474Thr)
c.*258C>A (n.*258C>A)
c.1513C>A (p.Pro505Thr)
c.1192C>A (p.Pro398Thr)
c.1492C>A (p.Pro498Thr)
c.1495C>A (p.Pro499Thr)
c.1174C>A (p.Pro392Thr)
c.1339C>A (p.Pro447Thr)
c.*839C>A (n.*839C>A)
c.1006C>A (p.Pro336Thr)
c.1465C>A (p.Pro489Thr)
c.1357C>A (p.Pro453Thr)
c.1510C>A (p.Pro504Thr)
c.1462C>A (p.Pro488Thr)
c.1345C>A (p.Pro449Thr)
c.1327C>A (p.Pro443Thr)
3g.69965180C=CA1373414471MITFc.1447C= (p.Pro483=)
c.1444C= (p.Pro482=)
n.1669C=
c.1420C= (p.Pro474=)
c.*258C= (n.*258C=)
c.1513C= (p.Pro505=)
c.1192C= (p.Pro398=)
c.1492C= (p.Pro498=)
c.1495C= (p.Pro499=)
c.1174C= (p.Pro392=)
c.1339C= (p.Pro447=)
c.*839C= (n.*839C=)
c.1006C= (p.Pro336=)
c.1465C= (p.Pro489=)
c.1357C= (p.Pro453=)
c.1510C= (p.Pro504=)
c.1462C= (p.Pro488=)
c.1345C= (p.Pro449=)
c.1327C= (p.Pro443=)
3g.69965180C>GCA353559995MITFc.1447C>G (p.Pro483Ala)
c.1444C>G (p.Pro482Ala)
n.1669C>G
c.1420C>G (p.Pro474Ala)
c.*258C>G (n.*258C>G)
c.1513C>G (p.Pro505Ala)
c.1192C>G (p.Pro398Ala)
c.1492C>G (p.Pro498Ala)
c.1495C>G (p.Pro499Ala)
c.1174C>G (p.Pro392Ala)
c.1339C>G (p.Pro447Ala)
c.*839C>G (n.*839C>G)
c.1006C>G (p.Pro336Ala)
c.1465C>G (p.Pro489Ala)
c.1357C>G (p.Pro453Ala)
c.1510C>G (p.Pro504Ala)
c.1462C>G (p.Pro488Ala)
c.1345C>G (p.Pro449Ala)
c.1327C>G (p.Pro443Ala)
3g.69965180C>TCA16040406MITFc.1447C>T (p.Pro483Ser)
c.1444C>T (p.Pro482Ser)
n.1669C>T
c.1420C>T (p.Pro474Ser)
c.*258C>T (n.*258C>T)
c.1513C>T (p.Pro505Ser)
c.1192C>T (p.Pro398Ser)
c.1492C>T (p.Pro498Ser)
c.1495C>T (p.Pro499Ser)
c.1174C>T (p.Pro392Ser)
c.1339C>T (p.Pro447Ser)
c.*839C>T (n.*839C>T)
c.1006C>T (p.Pro336Ser)
c.1465C>T (p.Pro489Ser)
c.1357C>T (p.Pro453Ser)
c.1510C>T (p.Pro504Ser)
c.1462C>T (p.Pro488Ser)
c.1345C>T (p.Pro449Ser)
c.1327C>T (p.Pro443Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.69965181C>ACA353559996MITFc.1448C>A (p.Pro483His)
c.1445C>A (p.Pro482His)
n.1670C>A
c.1421C>A (p.Pro474His)
c.*259C>A (n.*259C>A)
c.1514C>A (p.Pro505His)
c.1193C>A (p.Pro398His)
c.1493C>A (p.Pro498His)
c.1496C>A (p.Pro499His)
c.1175C>A (p.Pro392His)
c.1340C>A (p.Pro447His)
c.*840C>A (n.*840C>A)
c.1007C>A (p.Pro336His)
c.1466C>A (p.Pro489His)
c.1358C>A (p.Pro453His)
c.1511C>A (p.Pro504His)
c.1463C>A (p.Pro488His)
c.1346C>A (p.Pro449His)
c.1328C>A (p.Pro443His)
3g.69965181C>GCA353559998MITFc.1448C>G (p.Pro483Arg)
c.1445C>G (p.Pro482Arg)
n.1670C>G
c.1421C>G (p.Pro474Arg)
c.*259C>G (n.*259C>G)
c.1514C>G (p.Pro505Arg)
c.1193C>G (p.Pro398Arg)
c.1493C>G (p.Pro498Arg)
c.1496C>G (p.Pro499Arg)
c.1175C>G (p.Pro392Arg)
c.1340C>G (p.Pro447Arg)
c.*840C>G (n.*840C>G)
c.1007C>G (p.Pro336Arg)
c.1466C>G (p.Pro489Arg)
c.1358C>G (p.Pro453Arg)
c.1511C>G (p.Pro504Arg)
c.1463C>G (p.Pro488Arg)
c.1346C>G (p.Pro449Arg)
c.1328C>G (p.Pro443Arg)
3g.69965181C>TCA353559997MITFc.1448C>T (p.Pro483Leu)
c.1445C>T (p.Pro482Leu)
n.1670C>T
c.1421C>T (p.Pro474Leu)
c.*259C>T (n.*259C>T)
c.1514C>T (p.Pro505Leu)
c.1193C>T (p.Pro398Leu)
c.1493C>T (p.Pro498Leu)
c.1496C>T (p.Pro499Leu)
c.1175C>T (p.Pro392Leu)
c.1340C>T (p.Pro447Leu)
c.*840C>T (n.*840C>T)
c.1007C>T (p.Pro336Leu)
c.1466C>T (p.Pro489Leu)
c.1358C>T (p.Pro453Leu)
c.1511C>T (p.Pro504Leu)
c.1463C>T (p.Pro488Leu)
c.1346C>T (p.Pro449Leu)
c.1328C>T (p.Pro443Leu)
 gnomAD v4
3g.69965182C>ACA2490689MITFc.1449C>A (p.Pro483=)
c.1446C>A (p.Pro482=)
n.1671C>A
c.1422C>A (p.Pro474=)
c.*260C>A (n.*260C>A)
c.1515C>A (p.Pro505=)
c.1194C>A (p.Pro398=)
c.1494C>A (p.Pro498=)
c.1497C>A (p.Pro499=)
c.1176C>A (p.Pro392=)
c.1341C>A (p.Pro447=)
c.*841C>A (n.*841C>A)
c.1008C>A (p.Pro336=)
c.1467C>A (p.Pro489=)
c.1359C>A (p.Pro453=)
c.1512C>A (p.Pro504=)
c.1464C>A (p.Pro488=)
c.1347C>A (p.Pro449=)
c.1329C>A (p.Pro443=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.69965182C=CA1373414473MITFc.1449C= (p.Pro483=)
c.1446C= (p.Pro482=)
n.1671C=
c.1422C= (p.Pro474=)
c.*260C= (n.*260C=)
c.1515C= (p.Pro505=)
c.1194C= (p.Pro398=)
c.1494C= (p.Pro498=)
c.1497C= (p.Pro499=)
c.1176C= (p.Pro392=)
c.1341C= (p.Pro447=)
c.*841C= (n.*841C=)
c.1008C= (p.Pro336=)
c.1467C= (p.Pro489=)
c.1359C= (p.Pro453=)
c.1512C= (p.Pro504=)
c.1464C= (p.Pro488=)
c.1347C= (p.Pro449=)
c.1329C= (p.Pro443=)
3g.69965182C>GCA434433851MITFc.1449C>G (p.Pro483=)
c.1446C>G (p.Pro482=)
n.1671C>G
c.1422C>G (p.Pro474=)
c.*260C>G (n.*260C>G)
c.1515C>G (p.Pro505=)
c.1194C>G (p.Pro398=)
c.1494C>G (p.Pro498=)
c.1497C>G (p.Pro499=)
c.1176C>G (p.Pro392=)
c.1341C>G (p.Pro447=)
c.*841C>G (n.*841C>G)
c.1008C>G (p.Pro336=)
c.1467C>G (p.Pro489=)
c.1359C>G (p.Pro453=)
c.1512C>G (p.Pro504=)
c.1464C>G (p.Pro488=)
c.1347C>G (p.Pro449=)
c.1329C>G (p.Pro443=)
3g.69965182C>TCA2490688MITFc.1449C>T (p.Pro483=)
c.1446C>T (p.Pro482=)
n.1671C>T
c.1422C>T (p.Pro474=)
c.*260C>T (n.*260C>T)
c.1515C>T (p.Pro505=)
c.1194C>T (p.Pro398=)
c.1494C>T (p.Pro498=)
c.1497C>T (p.Pro499=)
c.1176C>T (p.Pro392=)
c.1341C>T (p.Pro447=)
c.*841C>T (n.*841C>T)
c.1008C>T (p.Pro336=)
c.1467C>T (p.Pro489=)
c.1359C>T (p.Pro453=)
c.1512C>T (p.Pro504=)
c.1464C>T (p.Pro488=)
c.1347C>T (p.Pro449=)
c.1329C>T (p.Pro443=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.69965183G>ACA2490690MITFc.1450G>A (p.Gly484Arg)
c.1447G>A (p.Gly483Arg)
n.1672G>A
c.1423G>A (p.Gly475Arg)
c.*261G>A (n.*261G>A)
c.1516G>A (p.Gly506Arg)
c.1195G>A (p.Gly399Arg)
c.1495G>A (p.Gly499Arg)
c.1498G>A (p.Gly500Arg)
c.1177G>A (p.Gly393Arg)
c.1342G>A (p.Gly448Arg)
c.*842G>A (n.*842G>A)
c.1009G>A (p.Gly337Arg)
c.1468G>A (p.Gly490Arg)
c.1360G>A (p.Gly454Arg)
c.1513G>A (p.Gly505Arg)
c.1465G>A (p.Gly489Arg)
c.1348G>A (p.Gly450Arg)
c.1330G>A (p.Gly444Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
3g.69965183G>CCA2490691MITFc.1450G>C (p.Gly484Arg)
c.1447G>C (p.Gly483Arg)
n.1672G>C
c.1423G>C (p.Gly475Arg)
c.*261G>C (n.*261G>C)
c.1516G>C (p.Gly506Arg)
c.1195G>C (p.Gly399Arg)
c.1495G>C (p.Gly499Arg)
c.1498G>C (p.Gly500Arg)
c.1177G>C (p.Gly393Arg)
c.1342G>C (p.Gly448Arg)
c.*842G>C (n.*842G>C)
c.1009G>C (p.Gly337Arg)
c.1468G>C (p.Gly490Arg)
c.1360G>C (p.Gly454Arg)
c.1513G>C (p.Gly505Arg)
c.1465G>C (p.Gly489Arg)
c.1348G>C (p.Gly450Arg)
c.1330G>C (p.Gly444Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.69965183G=CA1373414481MITFc.1450G= (p.Gly484=)
c.1447G= (p.Gly483=)
n.1672G=
c.1423G= (p.Gly475=)
c.*261G= (n.*261G=)
c.1516G= (p.Gly506=)
c.1195G= (p.Gly399=)
c.1495G= (p.Gly499=)
c.1498G= (p.Gly500=)
c.1177G= (p.Gly393=)
c.1342G= (p.Gly448=)
c.*842G= (n.*842G=)
c.1009G= (p.Gly337=)
c.1468G= (p.Gly490=)
c.1360G= (p.Gly454=)
c.1513G= (p.Gly505=)
c.1465G= (p.Gly489=)
c.1348G= (p.Gly450=)
c.1330G= (p.Gly444=)
3g.69965183G>TCA353559999MITFc.1450G>T (p.Gly484Ter)
c.1447G>T (p.Gly483Ter)
n.1672G>T
c.1423G>T (p.Gly475Ter)
c.*261G>T (n.*261G>T)
c.1516G>T (p.Gly506Ter)
c.1195G>T (p.Gly399Ter)
c.1495G>T (p.Gly499Ter)
c.1498G>T (p.Gly500Ter)
c.1177G>T (p.Gly393Ter)
c.1342G>T (p.Gly448Ter)
c.*842G>T (n.*842G>T)
c.1009G>T (p.Gly337Ter)
c.1468G>T (p.Gly490Ter)
c.1360G>T (p.Gly454Ter)
c.1513G>T (p.Gly505Ter)
c.1465G>T (p.Gly489Ter)
c.1348G>T (p.Gly450Ter)
c.1330G>T (p.Gly444Ter)
 gnomAD v4
3g.69965184G>ACA2490692MITFc.1451G>A (p.Gly484Glu)
c.1448G>A (p.Gly483Glu)
n.1673G>A
c.1424G>A (p.Gly475Glu)
c.*262G>A (n.*262G>A)
c.1517G>A (p.Gly506Glu)
c.1196G>A (p.Gly399Glu)
c.1496G>A (p.Gly499Glu)
c.1499G>A (p.Gly500Glu)
c.1178G>A (p.Gly393Glu)
c.1343G>A (p.Gly448Glu)
c.*843G>A (n.*843G>A)
c.1010G>A (p.Gly337Glu)
c.1469G>A (p.Gly490Glu)
c.1361G>A (p.Gly454Glu)
c.1514G>A (p.Gly505Glu)
c.1466G>A (p.Gly489Glu)
c.1349G>A (p.Gly450Glu)
c.1331G>A (p.Gly444Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.69965184G>CCA353560000MITFc.1451G>C (p.Gly484Ala)
c.1448G>C (p.Gly483Ala)
n.1673G>C
c.1424G>C (p.Gly475Ala)
c.*262G>C (n.*262G>C)
c.1517G>C (p.Gly506Ala)
c.1196G>C (p.Gly399Ala)
c.1496G>C (p.Gly499Ala)
c.1499G>C (p.Gly500Ala)
c.1178G>C (p.Gly393Ala)
c.1343G>C (p.Gly448Ala)
c.*843G>C (n.*843G>C)
c.1010G>C (p.Gly337Ala)
c.1469G>C (p.Gly490Ala)
c.1361G>C (p.Gly454Ala)
c.1514G>C (p.Gly505Ala)
c.1466G>C (p.Gly489Ala)
c.1349G>C (p.Gly450Ala)
c.1331G>C (p.Gly444Ala)
3g.69965184G=CA1373414486MITFc.1451G= (p.Gly484=)
c.1448G= (p.Gly483=)
n.1673G=
c.1424G= (p.Gly475=)
c.*262G= (n.*262G=)
c.1517G= (p.Gly506=)
c.1196G= (p.Gly399=)
c.1496G= (p.Gly499=)
c.1499G= (p.Gly500=)
c.1178G= (p.Gly393=)
c.1343G= (p.Gly448=)
c.*843G= (n.*843G=)
c.1010G= (p.Gly337=)
c.1469G= (p.Gly490=)
c.1361G= (p.Gly454=)
c.1514G= (p.Gly505=)
c.1466G= (p.Gly489=)
c.1349G= (p.Gly450=)
c.1331G= (p.Gly444=)
3g.69965184G>TCA353560001MITFc.1451G>T (p.Gly484Val)
c.1448G>T (p.Gly483Val)
n.1673G>T
c.1424G>T (p.Gly475Val)
c.*262G>T (n.*262G>T)
c.1517G>T (p.Gly506Val)
c.1196G>T (p.Gly399Val)
c.1496G>T (p.Gly499Val)
c.1499G>T (p.Gly500Val)
c.1178G>T (p.Gly393Val)
c.1343G>T (p.Gly448Val)
c.*843G>T (n.*843G>T)
c.1010G>T (p.Gly337Val)
c.1469G>T (p.Gly490Val)
c.1361G>T (p.Gly454Val)
c.1514G>T (p.Gly505Val)
c.1466G>T (p.Gly489Val)
c.1349G>T (p.Gly450Val)
c.1331G>T (p.Gly444Val)
3g.69965185A>CCA434433852MITFc.1452A>C (p.Gly484=)
c.1449A>C (p.Gly483=)
n.1674A>C
c.1425A>C (p.Gly475=)
c.*263A>C (n.*263A>C)
c.1518A>C (p.Gly506=)
c.1197A>C (p.Gly399=)
c.1497A>C (p.Gly499=)
c.1500A>C (p.Gly500=)
c.1179A>C (p.Gly393=)
c.1344A>C (p.Gly448=)
c.*844A>C (n.*844A>C)
c.1011A>C (p.Gly337=)
c.1470A>C (p.Gly490=)
c.1362A>C (p.Gly454=)
c.1515A>C (p.Gly505=)
c.1467A>C (p.Gly489=)
c.1350A>C (p.Gly450=)
c.1332A>C (p.Gly444=)
3g.69965185A>GCA434433854MITFc.1452A>G (p.Gly484=)
c.1449A>G (p.Gly483=)
n.1674A>G
c.1425A>G (p.Gly475=)
c.*263A>G (n.*263A>G)
c.1518A>G (p.Gly506=)
c.1197A>G (p.Gly399=)
c.1497A>G (p.Gly499=)
c.1500A>G (p.Gly500=)
c.1179A>G (p.Gly393=)
c.1344A>G (p.Gly448=)
c.*844A>G (n.*844A>G)
c.1011A>G (p.Gly337=)
c.1470A>G (p.Gly490=)
c.1362A>G (p.Gly454=)
c.1515A>G (p.Gly505=)
c.1467A>G (p.Gly489=)
c.1350A>G (p.Gly450=)
c.1332A>G (p.Gly444=)
3g.69965185A>TCA434433853MITFc.1452A>T (p.Gly484=)
c.1449A>T (p.Gly483=)
n.1674A>T
c.1425A>T (p.Gly475=)
c.*263A>T (n.*263A>T)
c.1518A>T (p.Gly506=)
c.1197A>T (p.Gly399=)
c.1497A>T (p.Gly499=)
c.1500A>T (p.Gly500=)
c.1179A>T (p.Gly393=)
c.1344A>T (p.Gly448=)
c.*844A>T (n.*844A>T)
c.1011A>T (p.Gly337=)
c.1470A>T (p.Gly490=)
c.1362A>T (p.Gly454=)
c.1515A>T (p.Gly505=)
c.1467A>T (p.Gly489=)
c.1350A>T (p.Gly450=)
c.1332A>T (p.Gly444=)
3g.69965186G>ACA353560002MITFc.1453G>A (p.Ala485Thr)
c.1450G>A (p.Ala484Thr)
n.1675G>A
c.1426G>A (p.Ala476Thr)
c.*264G>A (n.*264G>A)
c.1519G>A (p.Ala507Thr)
c.1198G>A (p.Ala400Thr)
c.1498G>A (p.Ala500Thr)
c.1501G>A (p.Ala501Thr)
c.1180G>A (p.Ala394Thr)
c.1345G>A (p.Ala449Thr)
c.*845G>A (n.*845G>A)
c.1012G>A (p.Ala338Thr)
c.1471G>A (p.Ala491Thr)
c.1363G>A (p.Ala455Thr)
c.1516G>A (p.Ala506Thr)
c.1468G>A (p.Ala490Thr)
c.1351G>A (p.Ala451Thr)
c.1333G>A (p.Ala445Thr)
 dbSNP COSMIC COSMIC COSMIC COSMIC
3g.69965186G>CCA353560003MITFc.1453G>C (p.Ala485Pro)
c.1450G>C (p.Ala484Pro)
n.1675G>C
c.1426G>C (p.Ala476Pro)
c.*264G>C (n.*264G>C)
c.1519G>C (p.Ala507Pro)
c.1198G>C (p.Ala400Pro)
c.1498G>C (p.Ala500Pro)
c.1501G>C (p.Ala501Pro)
c.1180G>C (p.Ala394Pro)
c.1345G>C (p.Ala449Pro)
c.*845G>C (n.*845G>C)
c.1012G>C (p.Ala338Pro)
c.1471G>C (p.Ala491Pro)
c.1363G>C (p.Ala455Pro)
c.1516G>C (p.Ala506Pro)
c.1468G>C (p.Ala490Pro)
c.1351G>C (p.Ala451Pro)
c.1333G>C (p.Ala445Pro)
3g.69965186G>TCA353560004MITFc.1453G>T (p.Ala485Ser)
c.1450G>T (p.Ala484Ser)
n.1675G>T
c.1426G>T (p.Ala476Ser)
c.*264G>T (n.*264G>T)
c.1519G>T (p.Ala507Ser)
c.1198G>T (p.Ala400Ser)
c.1498G>T (p.Ala500Ser)
c.1501G>T (p.Ala501Ser)
c.1180G>T (p.Ala394Ser)
c.1345G>T (p.Ala449Ser)
c.*845G>T (n.*845G>T)
c.1012G>T (p.Ala338Ser)
c.1471G>T (p.Ala491Ser)
c.1363G>T (p.Ala455Ser)
c.1516G>T (p.Ala506Ser)
c.1468G>T (p.Ala490Ser)
c.1351G>T (p.Ala451Ser)
c.1333G>T (p.Ala445Ser)
3g.69965187C>ACA353560007MITFc.1454C>A (p.Ala485Asp)
c.1451C>A (p.Ala484Asp)
n.1676C>A
c.1427C>A (p.Ala476Asp)
c.*265C>A (n.*265C>A)
c.1520C>A (p.Ala507Asp)
c.1199C>A (p.Ala400Asp)
c.1499C>A (p.Ala500Asp)
c.1502C>A (p.Ala501Asp)
c.1181C>A (p.Ala394Asp)
c.1346C>A (p.Ala449Asp)
c.*846C>A (n.*846C>A)
c.1013C>A (p.Ala338Asp)
c.1472C>A (p.Ala491Asp)
c.1364C>A (p.Ala455Asp)
c.1517C>A (p.Ala506Asp)
c.1469C>A (p.Ala490Asp)
c.1352C>A (p.Ala451Asp)
c.1334C>A (p.Ala445Asp)
 dbSNP
3g.69965187C=CA1373414491MITFc.1454C= (p.Ala485=)
c.1451C= (p.Ala484=)
n.1676C=
c.1427C= (p.Ala476=)
c.*265C= (n.*265C=)
c.1520C= (p.Ala507=)
c.1199C= (p.Ala400=)
c.1499C= (p.Ala500=)
c.1502C= (p.Ala501=)
c.1181C= (p.Ala394=)
c.1346C= (p.Ala449=)
c.*846C= (n.*846C=)
c.1013C= (p.Ala338=)
c.1472C= (p.Ala491=)
c.1364C= (p.Ala455=)
c.1517C= (p.Ala506=)
c.1469C= (p.Ala490=)
c.1352C= (p.Ala451=)
c.1334C= (p.Ala445=)
3g.69965187C>GCA353560006MITFc.1454C>G (p.Ala485Gly)
c.1451C>G (p.Ala484Gly)
n.1676C>G
c.1427C>G (p.Ala476Gly)
c.*265C>G (n.*265C>G)
c.1520C>G (p.Ala507Gly)
c.1199C>G (p.Ala400Gly)
c.1499C>G (p.Ala500Gly)
c.1502C>G (p.Ala501Gly)
c.1181C>G (p.Ala394Gly)
c.1346C>G (p.Ala449Gly)
c.*846C>G (n.*846C>G)
c.1013C>G (p.Ala338Gly)
c.1472C>G (p.Ala491Gly)
c.1364C>G (p.Ala455Gly)
c.1517C>G (p.Ala506Gly)
c.1469C>G (p.Ala490Gly)
c.1352C>G (p.Ala451Gly)
c.1334C>G (p.Ala445Gly)
3g.69965187C>TCA353560005MITFc.1454C>T (p.Ala485Val)
c.1451C>T (p.Ala484Val)
n.1676C>T
c.1427C>T (p.Ala476Val)
c.*265C>T (n.*265C>T)
c.1520C>T (p.Ala507Val)
c.1199C>T (p.Ala400Val)
c.1499C>T (p.Ala500Val)
c.1502C>T (p.Ala501Val)
c.1181C>T (p.Ala394Val)
c.1346C>T (p.Ala449Val)
c.*846C>T (n.*846C>T)
c.1013C>T (p.Ala338Val)
c.1472C>T (p.Ala491Val)
c.1364C>T (p.Ala455Val)
c.1517C>T (p.Ala506Val)
c.1469C>T (p.Ala490Val)
c.1352C>T (p.Ala451Val)
c.1334C>T (p.Ala445Val)
3g.69965188T>ACA434305523MITFc.1455T>A (p.Ala485=)
c.1452T>A (p.Ala484=)
n.1677T>A
c.1428T>A (p.Ala476=)
c.*266T>A (n.*266T>A)
c.1521T>A (p.Ala507=)
c.1200T>A (p.Ala400=)
c.1500T>A (p.Ala500=)
c.1503T>A (p.Ala501=)
c.1182T>A (p.Ala394=)
c.1347T>A (p.Ala449=)
c.*847T>A (n.*847T>A)
c.1014T>A (p.Ala338=)
c.1473T>A (p.Ala491=)
c.1365T>A (p.Ala455=)
c.1518T>A (p.Ala506=)
c.1470T>A (p.Ala490=)
c.1353T>A (p.Ala451=)
c.1335T>A (p.Ala445=)
3g.69965188T>CCA434305524MITFc.1455T>C (p.Ala485=)
c.1452T>C (p.Ala484=)
n.1677T>C
c.1428T>C (p.Ala476=)
c.*266T>C (n.*266T>C)
c.1521T>C (p.Ala507=)
c.1200T>C (p.Ala400=)
c.1500T>C (p.Ala500=)
c.1503T>C (p.Ala501=)
c.1182T>C (p.Ala394=)
c.1347T>C (p.Ala449=)
c.*847T>C (n.*847T>C)
c.1014T>C (p.Ala338=)
c.1473T>C (p.Ala491=)
c.1365T>C (p.Ala455=)
c.1518T>C (p.Ala506=)
c.1470T>C (p.Ala490=)
c.1353T>C (p.Ala451=)
c.1335T>C (p.Ala445=)
3g.69965188T>GCA434305525MITFc.1455T>G (p.Ala485=)
c.1452T>G (p.Ala484=)
n.1677T>G
c.1428T>G (p.Ala476=)
c.*266T>G (n.*266T>G)
c.1521T>G (p.Ala507=)
c.1200T>G (p.Ala400=)
c.1500T>G (p.Ala500=)
c.1503T>G (p.Ala501=)
c.1182T>G (p.Ala394=)
c.1347T>G (p.Ala449=)
c.*847T>G (n.*847T>G)
c.1014T>G (p.Ala338=)
c.1473T>G (p.Ala491=)
c.1365T>G (p.Ala455=)
c.1518T>G (p.Ala506=)
c.1470T>G (p.Ala490=)
c.1353T>G (p.Ala451=)
c.1335T>G (p.Ala445=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.69965188T=CA1373414494MITFc.1455T= (p.Ala485=)
c.1452T= (p.Ala484=)
n.1677T=
c.1428T= (p.Ala476=)
c.*266T= (n.*266T=)
c.1521T= (p.Ala507=)
c.1200T= (p.Ala400=)
c.1500T= (p.Ala500=)
c.1503T= (p.Ala501=)
c.1182T= (p.Ala394=)
c.1347T= (p.Ala449=)
c.*847T= (n.*847T=)
c.1014T= (p.Ala338=)
c.1473T= (p.Ala491=)
c.1365T= (p.Ala455=)
c.1518T= (p.Ala506=)
c.1470T= (p.Ala490=)
c.1353T= (p.Ala451=)
c.1335T= (p.Ala445=)
3g.69965189T>ACA353560008MITFc.1456T>A (p.Ser486Thr)
c.1453T>A (p.Ser485Thr)
n.1678T>A
c.1429T>A (p.Ser477Thr)
c.*267T>A (n.*267T>A)
c.1522T>A (p.Ser508Thr)
c.1201T>A (p.Ser401Thr)
c.1501T>A (p.Ser501Thr)
c.1504T>A (p.Ser502Thr)
c.1183T>A (p.Ser395Thr)
c.1348T>A (p.Ser450Thr)
c.*848T>A (n.*848T>A)
c.1015T>A (p.Ser339Thr)
c.1474T>A (p.Ser492Thr)
c.1366T>A (p.Ser456Thr)
c.1519T>A (p.Ser507Thr)
c.1471T>A (p.Ser491Thr)
c.1354T>A (p.Ser452Thr)
c.1336T>A (p.Ser446Thr)
3g.69965189T>CCA353560009MITFc.1456T>C (p.Ser486Pro)
c.1453T>C (p.Ser485Pro)
n.1678T>C
c.1429T>C (p.Ser477Pro)
c.*267T>C (n.*267T>C)
c.1522T>C (p.Ser508Pro)
c.1201T>C (p.Ser401Pro)
c.1501T>C (p.Ser501Pro)
c.1504T>C (p.Ser502Pro)
c.1183T>C (p.Ser395Pro)
c.1348T>C (p.Ser450Pro)
c.*848T>C (n.*848T>C)
c.1015T>C (p.Ser339Pro)
c.1474T>C (p.Ser492Pro)
c.1366T>C (p.Ser456Pro)
c.1519T>C (p.Ser507Pro)
c.1471T>C (p.Ser491Pro)
c.1354T>C (p.Ser452Pro)
c.1336T>C (p.Ser446Pro)
3g.69965189T>GCA353560010MITFc.1456T>G (p.Ser486Ala)
c.1453T>G (p.Ser485Ala)
n.1678T>G
c.1429T>G (p.Ser477Ala)
c.*267T>G (n.*267T>G)
c.1522T>G (p.Ser508Ala)
c.1201T>G (p.Ser401Ala)
c.1501T>G (p.Ser501Ala)
c.1504T>G (p.Ser502Ala)
c.1183T>G (p.Ser395Ala)
c.1348T>G (p.Ser450Ala)
c.*848T>G (n.*848T>G)
c.1015T>G (p.Ser339Ala)
c.1474T>G (p.Ser492Ala)
c.1366T>G (p.Ser456Ala)
c.1519T>G (p.Ser507Ala)
c.1471T>G (p.Ser491Ala)
c.1354T>G (p.Ser452Ala)
c.1336T>G (p.Ser446Ala)
3g.69965190C>ACA353560011MITFc.1457C>A (p.Ser486Tyr)
c.1454C>A (p.Ser485Tyr)
n.1679C>A
c.1430C>A (p.Ser477Tyr)
c.*268C>A (n.*268C>A)
c.1523C>A (p.Ser508Tyr)
c.1202C>A (p.Ser401Tyr)
c.1502C>A (p.Ser501Tyr)
c.1505C>A (p.Ser502Tyr)
c.1184C>A (p.Ser395Tyr)
c.1349C>A (p.Ser450Tyr)
c.*849C>A (n.*849C>A)
c.1016C>A (p.Ser339Tyr)
c.1475C>A (p.Ser492Tyr)
c.1367C>A (p.Ser456Tyr)
c.1520C>A (p.Ser507Tyr)
c.1472C>A (p.Ser491Tyr)
c.1355C>A (p.Ser452Tyr)
c.1337C>A (p.Ser446Tyr)
3g.69965190C>GCA353560012MITFc.1457C>G (p.Ser486Cys)
c.1454C>G (p.Ser485Cys)
n.1679C>G
c.1430C>G (p.Ser477Cys)
c.*268C>G (n.*268C>G)
c.1523C>G (p.Ser508Cys)
c.1202C>G (p.Ser401Cys)
c.1502C>G (p.Ser501Cys)
c.1505C>G (p.Ser502Cys)
c.1184C>G (p.Ser395Cys)
c.1349C>G (p.Ser450Cys)
c.*849C>G (n.*849C>G)
c.1016C>G (p.Ser339Cys)
c.1475C>G (p.Ser492Cys)
c.1367C>G (p.Ser456Cys)
c.1520C>G (p.Ser507Cys)
c.1472C>G (p.Ser491Cys)
c.1355C>G (p.Ser452Cys)
c.1337C>G (p.Ser446Cys)
3g.69965190C>TCA353560013MITFc.1457C>T (p.Ser486Phe)
c.1454C>T (p.Ser485Phe)
n.1679C>T
c.1430C>T (p.Ser477Phe)
c.*268C>T (n.*268C>T)
c.1523C>T (p.Ser508Phe)
c.1202C>T (p.Ser401Phe)
c.1502C>T (p.Ser501Phe)
c.1505C>T (p.Ser502Phe)
c.1184C>T (p.Ser395Phe)
c.1349C>T (p.Ser450Phe)
c.*849C>T (n.*849C>T)
c.1016C>T (p.Ser339Phe)
c.1475C>T (p.Ser492Phe)
c.1367C>T (p.Ser456Phe)
c.1520C>T (p.Ser507Phe)
c.1472C>T (p.Ser491Phe)
c.1355C>T (p.Ser452Phe)
c.1337C>T (p.Ser446Phe)
3g.69965191C>ACA434305526MITFc.1458C>A (p.Ser486=)
c.1455C>A (p.Ser485=)
n.1680C>A
c.1431C>A (p.Ser477=)
c.*269C>A (n.*269C>A)
c.1524C>A (p.Ser508=)
c.1203C>A (p.Ser401=)
c.1503C>A (p.Ser501=)
c.1506C>A (p.Ser502=)
c.1185C>A (p.Ser395=)
c.1350C>A (p.Ser450=)
c.*850C>A (n.*850C>A)
c.1017C>A (p.Ser339=)
c.1476C>A (p.Ser492=)
c.1368C>A (p.Ser456=)
c.1521C>A (p.Ser507=)
c.1473C>A (p.Ser491=)
c.1356C>A (p.Ser452=)
c.1338C>A (p.Ser446=)
 gnomAD v3 gnomAD v4
3g.69965191C>GCA434305527MITFc.1458C>G (p.Ser486=)
c.1455C>G (p.Ser485=)
n.1680C>G
c.1431C>G (p.Ser477=)
c.*269C>G (n.*269C>G)
c.1524C>G (p.Ser508=)
c.1203C>G (p.Ser401=)
c.1503C>G (p.Ser501=)
c.1506C>G (p.Ser502=)
c.1185C>G (p.Ser395=)
c.1350C>G (p.Ser450=)
c.*850C>G (n.*850C>G)
c.1017C>G (p.Ser339=)
c.1476C>G (p.Ser492=)
c.1368C>G (p.Ser456=)
c.1521C>G (p.Ser507=)
c.1473C>G (p.Ser491=)
c.1356C>G (p.Ser452=)
c.1338C>G (p.Ser446=)
3g.69965191C>TCA434305528MITFc.1458C>T (p.Ser486=)
c.1455C>T (p.Ser485=)
n.1680C>T
c.1431C>T (p.Ser477=)
c.*269C>T (n.*269C>T)
c.1524C>T (p.Ser508=)
c.1203C>T (p.Ser401=)
c.1503C>T (p.Ser501=)
c.1506C>T (p.Ser502=)
c.1185C>T (p.Ser395=)
c.1350C>T (p.Ser450=)
c.*850C>T (n.*850C>T)
c.1017C>T (p.Ser339=)
c.1476C>T (p.Ser492=)
c.1368C>T (p.Ser456=)
c.1521C>T (p.Ser507=)
c.1473C>T (p.Ser491=)
c.1356C>T (p.Ser452=)
c.1338C>T (p.Ser446=)
3g.69965192A=CA1373414498MITFc.1459A= (p.Lys487=)
c.1456A= (p.Lys486=)
n.1681A=
c.1432A= (p.Lys478=)
c.*270A= (n.*270A=)
c.1525A= (p.Lys509=)
c.1204A= (p.Lys402=)
c.1504A= (p.Lys502=)
c.1507A= (p.Lys503=)
c.1186A= (p.Lys396=)
c.1351A= (p.Lys451=)
c.*851A= (n.*851A=)
c.1018A= (p.Lys340=)
c.1477A= (p.Lys493=)
c.1369A= (p.Lys457=)
c.1522A= (p.Lys508=)
c.1474A= (p.Lys492=)
c.1357A= (p.Lys453=)
c.1339A= (p.Lys447=)
3g.69965192A>CCA353560014MITFc.1459A>C (p.Lys487Gln)
c.1456A>C (p.Lys486Gln)
n.1681A>C
c.1432A>C (p.Lys478Gln)
c.*270A>C (n.*270A>C)
c.1525A>C (p.Lys509Gln)
c.1204A>C (p.Lys402Gln)
c.1504A>C (p.Lys502Gln)
c.1507A>C (p.Lys503Gln)
c.1186A>C (p.Lys396Gln)
c.1351A>C (p.Lys451Gln)
c.*851A>C (n.*851A>C)
c.1018A>C (p.Lys340Gln)
c.1477A>C (p.Lys493Gln)
c.1369A>C (p.Lys457Gln)
c.1522A>C (p.Lys508Gln)
c.1474A>C (p.Lys492Gln)
c.1357A>C (p.Lys453Gln)
c.1339A>C (p.Lys447Gln)
3g.69965192A>GCA353560015MITFc.1459A>G (p.Lys487Glu)
c.1456A>G (p.Lys486Glu)
n.1681A>G
c.1432A>G (p.Lys478Glu)
c.*270A>G (n.*270A>G)
c.1525A>G (p.Lys509Glu)
c.1204A>G (p.Lys402Glu)
c.1504A>G (p.Lys502Glu)
c.1507A>G (p.Lys503Glu)
c.1186A>G (p.Lys396Glu)
c.1351A>G (p.Lys451Glu)
c.*851A>G (n.*851A>G)
c.1018A>G (p.Lys340Glu)
c.1477A>G (p.Lys493Glu)
c.1369A>G (p.Lys457Glu)
c.1522A>G (p.Lys508Glu)
c.1474A>G (p.Lys492Glu)
c.1357A>G (p.Lys453Glu)
c.1339A>G (p.Lys447Glu)
 dbSNP
3g.69965192A>TCA353560016MITFc.1459A>T (p.Lys487Ter)
c.1456A>T (p.Lys486Ter)
n.1681A>T
c.1432A>T (p.Lys478Ter)
c.*270A>T (n.*270A>T)
c.1525A>T (p.Lys509Ter)
c.1204A>T (p.Lys402Ter)
c.1504A>T (p.Lys502Ter)
c.1507A>T (p.Lys503Ter)
c.1186A>T (p.Lys396Ter)
c.1351A>T (p.Lys451Ter)
c.*851A>T (n.*851A>T)
c.1018A>T (p.Lys340Ter)
c.1477A>T (p.Lys493Ter)
c.1369A>T (p.Lys457Ter)
c.1522A>T (p.Lys508Ter)
c.1474A>T (p.Lys492Ter)
c.1357A>T (p.Lys453Ter)
c.1339A>T (p.Lys447Ter)
3g.69965193A>CCA353560017MITFc.1460A>C (p.Lys487Thr)
c.1457A>C (p.Lys486Thr)
n.1682A>C
c.1433A>C (p.Lys478Thr)
c.*271A>C (n.*271A>C)
c.1526A>C (p.Lys509Thr)
c.1205A>C (p.Lys402Thr)
c.1505A>C (p.Lys502Thr)
c.1508A>C (p.Lys503Thr)
c.1187A>C (p.Lys396Thr)
c.1352A>C (p.Lys451Thr)
c.*852A>C (n.*852A>C)
c.1019A>C (p.Lys340Thr)
c.1478A>C (p.Lys493Thr)
c.1370A>C (p.Lys457Thr)
c.1523A>C (p.Lys508Thr)
c.1475A>C (p.Lys492Thr)
c.1358A>C (p.Lys453Thr)
c.1340A>C (p.Lys447Thr)
3g.69965193A>GCA353560018MITFc.1460A>G (p.Lys487Arg)
c.1457A>G (p.Lys486Arg)
n.1682A>G
c.1433A>G (p.Lys478Arg)
c.*271A>G (n.*271A>G)
c.1526A>G (p.Lys509Arg)
c.1205A>G (p.Lys402Arg)
c.1505A>G (p.Lys502Arg)
c.1508A>G (p.Lys503Arg)
c.1187A>G (p.Lys396Arg)
c.1352A>G (p.Lys451Arg)
c.*852A>G (n.*852A>G)
c.1019A>G (p.Lys340Arg)
c.1478A>G (p.Lys493Arg)
c.1370A>G (p.Lys457Arg)
c.1523A>G (p.Lys508Arg)
c.1475A>G (p.Lys492Arg)
c.1358A>G (p.Lys453Arg)
c.1340A>G (p.Lys447Arg)
 gnomAD v4
3g.69965193A>TCA353560019MITFc.1460A>T (p.Lys487Ile)
c.1457A>T (p.Lys486Ile)
n.1682A>T
c.1433A>T (p.Lys478Ile)
c.*271A>T (n.*271A>T)
c.1526A>T (p.Lys509Ile)
c.1205A>T (p.Lys402Ile)
c.1505A>T (p.Lys502Ile)
c.1508A>T (p.Lys503Ile)
c.1187A>T (p.Lys396Ile)
c.1352A>T (p.Lys451Ile)
c.*852A>T (n.*852A>T)
c.1019A>T (p.Lys340Ile)
c.1478A>T (p.Lys493Ile)
c.1370A>T (p.Lys457Ile)
c.1523A>T (p.Lys508Ile)
c.1475A>T (p.Lys492Ile)
c.1358A>T (p.Lys453Ile)
c.1340A>T (p.Lys447Ile)
3g.69965194A>CCA353560020MITFc.1461A>C (p.Lys487Asn)
c.1458A>C (p.Lys486Asn)
n.1683A>C
c.1434A>C (p.Lys478Asn)
c.*272A>C (n.*272A>C)
c.1527A>C (p.Lys509Asn)
c.1206A>C (p.Lys402Asn)
c.1506A>C (p.Lys502Asn)
c.1509A>C (p.Lys503Asn)
c.1188A>C (p.Lys396Asn)
c.1353A>C (p.Lys451Asn)
c.*853A>C (n.*853A>C)
c.1020A>C (p.Lys340Asn)
c.1479A>C (p.Lys493Asn)
c.1371A>C (p.Lys457Asn)
c.1524A>C (p.Lys508Asn)
c.1476A>C (p.Lys492Asn)
c.1359A>C (p.Lys453Asn)
c.1341A>C (p.Lys447Asn)
3g.69965194A>GCA434305529MITFc.1461A>G (p.Lys487=)
c.1458A>G (p.Lys486=)
n.1683A>G
c.1434A>G (p.Lys478=)
c.*272A>G (n.*272A>G)
c.1527A>G (p.Lys509=)
c.1206A>G (p.Lys402=)
c.1506A>G (p.Lys502=)
c.1509A>G (p.Lys503=)
c.1188A>G (p.Lys396=)
c.1353A>G (p.Lys451=)
c.*853A>G (n.*853A>G)
c.1020A>G (p.Lys340=)
c.1479A>G (p.Lys493=)
c.1371A>G (p.Lys457=)
c.1524A>G (p.Lys508=)
c.1476A>G (p.Lys492=)
c.1359A>G (p.Lys453=)
c.1341A>G (p.Lys447=)
3g.69965194A>TCA353560021MITFc.1461A>T (p.Lys487Asn)
c.1458A>T (p.Lys486Asn)
n.1683A>T
c.1434A>T (p.Lys478Asn)
c.*272A>T (n.*272A>T)
c.1527A>T (p.Lys509Asn)
c.1206A>T (p.Lys402Asn)
c.1506A>T (p.Lys502Asn)
c.1509A>T (p.Lys503Asn)
c.1188A>T (p.Lys396Asn)
c.1353A>T (p.Lys451Asn)
c.*853A>T (n.*853A>T)
c.1020A>T (p.Lys340Asn)
c.1479A>T (p.Lys493Asn)
c.1371A>T (p.Lys457Asn)
c.1524A>T (p.Lys508Asn)
c.1476A>T (p.Lys492Asn)
c.1359A>T (p.Lys453Asn)
c.1341A>T (p.Lys447Asn)
3g.69965195A>CCA353560022MITFc.1462A>C (p.Thr488Pro)
c.1459A>C (p.Thr487Pro)
n.1684A>C
c.1435A>C (p.Thr479Pro)
c.*273A>C (n.*273A>C)
c.1528A>C (p.Thr510Pro)
c.1207A>C (p.Thr403Pro)
c.1507A>C (p.Thr503Pro)
c.1510A>C (p.Thr504Pro)
c.1189A>C (p.Thr397Pro)
c.1354A>C (p.Thr452Pro)
c.*854A>C (n.*854A>C)
c.1021A>C (p.Thr341Pro)
c.1480A>C (p.Thr494Pro)
c.1372A>C (p.Thr458Pro)
c.1525A>C (p.Thr509Pro)
c.1477A>C (p.Thr493Pro)
c.1360A>C (p.Thr454Pro)
c.1342A>C (p.Thr448Pro)
3g.69965195A>GCA353560023MITFc.1462A>G (p.Thr488Ala)
c.1459A>G (p.Thr487Ala)
n.1684A>G
c.1435A>G (p.Thr479Ala)
c.*273A>G (n.*273A>G)
c.1528A>G (p.Thr510Ala)
c.1207A>G (p.Thr403Ala)
c.1507A>G (p.Thr503Ala)
c.1510A>G (p.Thr504Ala)
c.1189A>G (p.Thr397Ala)
c.1354A>G (p.Thr452Ala)
c.*854A>G (n.*854A>G)
c.1021A>G (p.Thr341Ala)
c.1480A>G (p.Thr494Ala)
c.1372A>G (p.Thr458Ala)
c.1525A>G (p.Thr509Ala)
c.1477A>G (p.Thr493Ala)
c.1360A>G (p.Thr454Ala)
c.1342A>G (p.Thr448Ala)
 gnomAD v4
3g.69965195A>TCA353560024MITFc.1462A>T (p.Thr488Ser)
c.1459A>T (p.Thr487Ser)
n.1684A>T
c.1435A>T (p.Thr479Ser)
c.*273A>T (n.*273A>T)
c.1528A>T (p.Thr510Ser)
c.1207A>T (p.Thr403Ser)
c.1507A>T (p.Thr503Ser)
c.1510A>T (p.Thr504Ser)
c.1189A>T (p.Thr397Ser)
c.1354A>T (p.Thr452Ser)
c.*854A>T (n.*854A>T)
c.1021A>T (p.Thr341Ser)
c.1480A>T (p.Thr494Ser)
c.1372A>T (p.Thr458Ser)
c.1525A>T (p.Thr509Ser)
c.1477A>T (p.Thr493Ser)
c.1360A>T (p.Thr454Ser)
c.1342A>T (p.Thr448Ser)
3g.69965196C>ACA353560025MITFc.1463C>A (p.Thr488Lys)
c.1460C>A (p.Thr487Lys)
n.1685C>A
c.1436C>A (p.Thr479Lys)
c.*274C>A (n.*274C>A)
c.1529C>A (p.Thr510Lys)
c.1208C>A (p.Thr403Lys)
c.1508C>A (p.Thr503Lys)
c.1511C>A (p.Thr504Lys)
c.1190C>A (p.Thr397Lys)
c.1355C>A (p.Thr452Lys)
c.*855C>A (n.*855C>A)
c.1022C>A (p.Thr341Lys)
c.1481C>A (p.Thr494Lys)
c.1373C>A (p.Thr458Lys)
c.1526C>A (p.Thr509Lys)
c.1478C>A (p.Thr493Lys)
c.1361C>A (p.Thr454Lys)
c.1343C>A (p.Thr448Lys)
3g.69965196C>GCA353560026MITFc.1463C>G (p.Thr488Arg)
c.1460C>G (p.Thr487Arg)
n.1685C>G
c.1436C>G (p.Thr479Arg)
c.*274C>G (n.*274C>G)
c.1529C>G (p.Thr510Arg)
c.1208C>G (p.Thr403Arg)
c.1508C>G (p.Thr503Arg)
c.1511C>G (p.Thr504Arg)
c.1190C>G (p.Thr397Arg)
c.1355C>G (p.Thr452Arg)
c.*855C>G (n.*855C>G)
c.1022C>G (p.Thr341Arg)
c.1481C>G (p.Thr494Arg)
c.1373C>G (p.Thr458Arg)
c.1526C>G (p.Thr509Arg)
c.1478C>G (p.Thr493Arg)
c.1361C>G (p.Thr454Arg)
c.1343C>G (p.Thr448Arg)
 gnomAD v4
3g.69965196C>TCA353560027MITFc.1463C>T (p.Thr488Ile)
c.1460C>T (p.Thr487Ile)
n.1685C>T
c.1436C>T (p.Thr479Ile)
c.*274C>T (n.*274C>T)
c.1529C>T (p.Thr510Ile)
c.1208C>T (p.Thr403Ile)
c.1508C>T (p.Thr503Ile)
c.1511C>T (p.Thr504Ile)
c.1190C>T (p.Thr397Ile)
c.1355C>T (p.Thr452Ile)
c.*855C>T (n.*855C>T)
c.1022C>T (p.Thr341Ile)
c.1481C>T (p.Thr494Ile)
c.1373C>T (p.Thr458Ile)
c.1526C>T (p.Thr509Ile)
c.1478C>T (p.Thr493Ile)
c.1361C>T (p.Thr454Ile)
c.1343C>T (p.Thr448Ile)
3g.69965197A>CCA434305530MITFc.1464A>C (p.Thr488=)
c.1461A>C (p.Thr487=)
n.1686A>C
c.1437A>C (p.Thr479=)
c.*275A>C (n.*275A>C)
c.1530A>C (p.Thr510=)
c.1209A>C (p.Thr403=)
c.1509A>C (p.Thr503=)
c.1512A>C (p.Thr504=)
c.1191A>C (p.Thr397=)
c.1356A>C (p.Thr452=)
c.*856A>C (n.*856A>C)
c.1023A>C (p.Thr341=)
c.1482A>C (p.Thr494=)
c.1374A>C (p.Thr458=)
c.1527A>C (p.Thr509=)
c.1479A>C (p.Thr493=)
c.1362A>C (p.Thr454=)
c.1344A>C (p.Thr448=)
3g.69965197A>GCA434305531MITFc.1464A>G (p.Thr488=)
c.1461A>G (p.Thr487=)
n.1686A>G
c.1437A>G (p.Thr479=)
c.*275A>G (n.*275A>G)
c.1530A>G (p.Thr510=)
c.1209A>G (p.Thr403=)
c.1509A>G (p.Thr503=)
c.1512A>G (p.Thr504=)
c.1191A>G (p.Thr397=)
c.1356A>G (p.Thr452=)
c.*856A>G (n.*856A>G)
c.1023A>G (p.Thr341=)
c.1482A>G (p.Thr494=)
c.1374A>G (p.Thr458=)
c.1527A>G (p.Thr509=)
c.1479A>G (p.Thr493=)
c.1362A>G (p.Thr454=)
c.1344A>G (p.Thr448=)
3g.69965197A>TCA434305532MITFc.1464A>T (p.Thr488=)
c.1461A>T (p.Thr487=)
n.1686A>T
c.1437A>T (p.Thr479=)
c.*275A>T (n.*275A>T)
c.1530A>T (p.Thr510=)
c.1209A>T (p.Thr403=)
c.1509A>T (p.Thr503=)
c.1512A>T (p.Thr504=)
c.1191A>T (p.Thr397=)
c.1356A>T (p.Thr452=)
c.*856A>T (n.*856A>T)
c.1023A>T (p.Thr341=)
c.1482A>T (p.Thr494=)
c.1374A>T (p.Thr458=)
c.1527A>T (p.Thr509=)
c.1479A>T (p.Thr493=)
c.1362A>T (p.Thr454=)
c.1344A>T (p.Thr448=)
3g.69965197_69965200delinsAAGCCA1373414503MITFc.1464_1467delinsAAGC (p.Thr488=)
c.1461_1464delinsAAGC (p.Thr487=)
n.1686_1689delinsAAGC
c.1437_1440delinsAAGC (p.Thr479=)
c.*275_*278delinsAAGC (n.*275_*278delinsAAGC)
c.1530_1533delinsAAGC (p.Thr510=)
c.1209_1212delinsAAGC (p.Thr403=)
c.1509_1512delinsAAGC (p.Thr503=)
c.1512_1515delinsAAGC (p.Thr504=)
c.1191_1194delinsAAGC (p.Thr397=)
c.1356_1359delinsAAGC (p.Thr452=)
c.*856_*859delinsAAGC (n.*856_*859delinsAAGC)
c.1023_1026delinsAAGC (p.Thr341=)
c.1482_1485delinsAAGC (p.Thr494=)
c.1374_1377delinsAAGC (p.Thr458=)
c.1527_1530delinsAAGC (p.Thr509=)
c.1479_1482delinsAAGC (p.Thr493=)
c.1362_1365delinsAAGC (p.Thr454=)
c.1344_1347delinsAAGC (p.Thr448=)
3g.69965198A=CA1373414509MITFc.1465A= (p.Ser489=)
c.1462A= (p.Ser488=)
n.1687A=
c.1438A= (p.Ser480=)
c.*276A= (n.*276A=)
c.1531A= (p.Ser511=)
c.1210A= (p.Ser404=)
c.1510A= (p.Ser504=)
c.1513A= (p.Ser505=)
c.1192A= (p.Ser398=)
c.1357A= (p.Ser453=)
c.*857A= (n.*857A=)
c.1024A= (p.Ser342=)
c.1483A= (p.Ser495=)
c.1375A= (p.Ser459=)
c.1528A= (p.Ser510=)
c.1480A= (p.Ser494=)
c.1363A= (p.Ser455=)
c.1345A= (p.Ser449=)
3g.69965198A>CCA353560028MITFc.1465A>C (p.Ser489Arg)
c.1462A>C (p.Ser488Arg)
n.1687A>C
c.1438A>C (p.Ser480Arg)
c.*276A>C (n.*276A>C)
c.1531A>C (p.Ser511Arg)
c.1210A>C (p.Ser404Arg)
c.1510A>C (p.Ser504Arg)
c.1513A>C (p.Ser505Arg)
c.1192A>C (p.Ser398Arg)
c.1357A>C (p.Ser453Arg)
c.*857A>C (n.*857A>C)
c.1024A>C (p.Ser342Arg)
c.1483A>C (p.Ser495Arg)
c.1375A>C (p.Ser459Arg)
c.1528A>C (p.Ser510Arg)
c.1480A>C (p.Ser494Arg)
c.1363A>C (p.Ser455Arg)
c.1345A>C (p.Ser449Arg)
3g.69965198A>GCA77003530MITFc.1465A>G (p.Ser489Gly)
c.1462A>G (p.Ser488Gly)
n.1687A>G
c.1438A>G (p.Ser480Gly)
c.*276A>G (n.*276A>G)
c.1531A>G (p.Ser511Gly)
c.1210A>G (p.Ser404Gly)
c.1510A>G (p.Ser504Gly)
c.1513A>G (p.Ser505Gly)
c.1192A>G (p.Ser398Gly)
c.1357A>G (p.Ser453Gly)
c.*857A>G (n.*857A>G)
c.1024A>G (p.Ser342Gly)
c.1483A>G (p.Ser495Gly)
c.1375A>G (p.Ser459Gly)
c.1528A>G (p.Ser510Gly)
c.1480A>G (p.Ser494Gly)
c.1363A>G (p.Ser455Gly)
c.1345A>G (p.Ser449Gly)
 dbSNP
3g.69965198A>TCA353560029MITFc.1465A>T (p.Ser489Cys)
c.1462A>T (p.Ser488Cys)
n.1687A>T
c.1438A>T (p.Ser480Cys)
c.*276A>T (n.*276A>T)
c.1531A>T (p.Ser511Cys)
c.1210A>T (p.Ser404Cys)
c.1510A>T (p.Ser504Cys)
c.1513A>T (p.Ser505Cys)
c.1192A>T (p.Ser398Cys)
c.1357A>T (p.Ser453Cys)
c.*857A>T (n.*857A>T)
c.1024A>T (p.Ser342Cys)
c.1483A>T (p.Ser495Cys)
c.1375A>T (p.Ser459Cys)
c.1528A>T (p.Ser510Cys)
c.1480A>T (p.Ser494Cys)
c.1363A>T (p.Ser455Cys)
c.1345A>T (p.Ser449Cys)
3g.69965201_69965203delCA915942981MITFc.1468_1470del (p.Ser490del)
c.1465_1467del (p.Ser489del)
n.1690_1692del
c.1441_1443del (p.Ser481del)
c.*279_*281del (n.*279_*281del)
c.1534_1536del (p.Ser512del)
c.1213_1215del (p.Ser405del)
c.1513_1515del (p.Ser505del)
c.1516_1518del (p.Ser506del)
c.1195_1197del (p.Ser399del)
c.1360_1362del (p.Ser454del)
c.*860_*862del (n.*860_*862del)
c.1027_1029del (p.Ser343del)
c.1486_1488del (p.Ser496del)
c.1378_1380del (p.Ser460del)
c.1531_1533del (p.Ser511del)
c.1483_1485del (p.Ser495del)
c.1366_1368del (p.Ser456del)
c.1348_1350del (p.Ser450del)
 ClinVar dbSNP
3g.69965199G>ACA353560030MITFc.1466G>A (p.Ser489Asn)
c.1463G>A (p.Ser488Asn)
n.1688G>A
c.1439G>A (p.Ser480Asn)
c.*277G>A (n.*277G>A)
c.1532G>A (p.Ser511Asn)
c.1211G>A (p.Ser404Asn)
c.1511G>A (p.Ser504Asn)
c.1514G>A (p.Ser505Asn)
c.1193G>A (p.Ser398Asn)
c.1358G>A (p.Ser453Asn)
c.*858G>A (n.*858G>A)
c.1025G>A (p.Ser342Asn)
c.1484G>A (p.Ser495Asn)
c.1376G>A (p.Ser459Asn)
c.1529G>A (p.Ser510Asn)
c.1481G>A (p.Ser494Asn)
c.1364G>A (p.Ser455Asn)
c.1346G>A (p.Ser449Asn)
3g.69965199G>CCA353560031MITFc.1466G>C (p.Ser489Thr)
c.1463G>C (p.Ser488Thr)
n.1688G>C
c.1439G>C (p.Ser480Thr)
c.*277G>C (n.*277G>C)
c.1532G>C (p.Ser511Thr)
c.1211G>C (p.Ser404Thr)
c.1511G>C (p.Ser504Thr)
c.1514G>C (p.Ser505Thr)
c.1193G>C (p.Ser398Thr)
c.1358G>C (p.Ser453Thr)
c.*858G>C (n.*858G>C)
c.1025G>C (p.Ser342Thr)
c.1484G>C (p.Ser495Thr)
c.1376G>C (p.Ser459Thr)
c.1529G>C (p.Ser510Thr)
c.1481G>C (p.Ser494Thr)
c.1364G>C (p.Ser455Thr)
c.1346G>C (p.Ser449Thr)
3g.69965199G>TCA353560032MITFc.1466G>T (p.Ser489Ile)
c.1463G>T (p.Ser488Ile)
n.1688G>T
c.1439G>T (p.Ser480Ile)
c.*277G>T (n.*277G>T)
c.1532G>T (p.Ser511Ile)
c.1211G>T (p.Ser404Ile)
c.1511G>T (p.Ser504Ile)
c.1514G>T (p.Ser505Ile)
c.1193G>T (p.Ser398Ile)
c.1358G>T (p.Ser453Ile)
c.*858G>T (n.*858G>T)
c.1025G>T (p.Ser342Ile)
c.1484G>T (p.Ser495Ile)
c.1376G>T (p.Ser459Ile)
c.1529G>T (p.Ser510Ile)
c.1481G>T (p.Ser494Ile)
c.1364G>T (p.Ser455Ile)
c.1346G>T (p.Ser449Ile)
3g.69965200C>ACA353560034MITFc.1467C>A (p.Ser489Arg)
c.1464C>A (p.Ser488Arg)
n.1689C>A
c.1440C>A (p.Ser480Arg)
c.*278C>A (n.*278C>A)
c.1533C>A (p.Ser511Arg)
c.1212C>A (p.Ser404Arg)
c.1512C>A (p.Ser504Arg)
c.1515C>A (p.Ser505Arg)
c.1194C>A (p.Ser398Arg)
c.1359C>A (p.Ser453Arg)
c.*859C>A (n.*859C>A)
c.1026C>A (p.Ser342Arg)
c.1485C>A (p.Ser495Arg)
c.1377C>A (p.Ser459Arg)
c.1530C>A (p.Ser510Arg)
c.1482C>A (p.Ser494Arg)
c.1365C>A (p.Ser455Arg)
c.1347C>A (p.Ser449Arg)
3g.69965200C>GCA353560033MITFc.1467C>G (p.Ser489Arg)
c.1464C>G (p.Ser488Arg)
n.1689C>G
c.1440C>G (p.Ser480Arg)
c.*278C>G (n.*278C>G)
c.1533C>G (p.Ser511Arg)
c.1212C>G (p.Ser404Arg)
c.1512C>G (p.Ser504Arg)
c.1515C>G (p.Ser505Arg)
c.1194C>G (p.Ser398Arg)
c.1359C>G (p.Ser453Arg)
c.*859C>G (n.*859C>G)
c.1026C>G (p.Ser342Arg)
c.1485C>G (p.Ser495Arg)
c.1377C>G (p.Ser459Arg)
c.1530C>G (p.Ser510Arg)
c.1482C>G (p.Ser494Arg)
c.1365C>G (p.Ser455Arg)
c.1347C>G (p.Ser449Arg)
 gnomAD v4
3g.69965200C>TCA434305533MITFc.1467C>T (p.Ser489=)
c.1464C>T (p.Ser488=)
n.1689C>T
c.1440C>T (p.Ser480=)
c.*278C>T (n.*278C>T)
c.1533C>T (p.Ser511=)
c.1212C>T (p.Ser404=)
c.1512C>T (p.Ser504=)
c.1515C>T (p.Ser505=)
c.1194C>T (p.Ser398=)
c.1359C>T (p.Ser453=)
c.*859C>T (n.*859C>T)
c.1026C>T (p.Ser342=)
c.1485C>T (p.Ser495=)
c.1377C>T (p.Ser459=)
c.1530C>T (p.Ser510=)
c.1482C>T (p.Ser494=)
c.1365C>T (p.Ser455=)
c.1347C>T (p.Ser449=)
 dbSNP gnomAD v4
3g.69965201A>CCA353560035MITFc.1468A>C (p.Ser490Arg)
c.1465A>C (p.Ser489Arg)
n.1690A>C
c.1441A>C (p.Ser481Arg)
c.*279A>C (n.*279A>C)
c.1534A>C (p.Ser512Arg)
c.1213A>C (p.Ser405Arg)
c.1513A>C (p.Ser505Arg)
c.1516A>C (p.Ser506Arg)
c.1195A>C (p.Ser399Arg)
c.1360A>C (p.Ser454Arg)
c.*860A>C (n.*860A>C)
c.1027A>C (p.Ser343Arg)
c.1486A>C (p.Ser496Arg)
c.1378A>C (p.Ser460Arg)
c.1531A>C (p.Ser511Arg)
c.1483A>C (p.Ser495Arg)
c.1366A>C (p.Ser456Arg)
c.1348A>C (p.Ser450Arg)
3g.69965201A>GCA353560036MITFc.1468A>G (p.Ser490Gly)
c.1465A>G (p.Ser489Gly)
n.1690A>G
c.1441A>G (p.Ser481Gly)
c.*279A>G (n.*279A>G)
c.1534A>G (p.Ser512Gly)
c.1213A>G (p.Ser405Gly)
c.1513A>G (p.Ser505Gly)
c.1516A>G (p.Ser506Gly)
c.1195A>G (p.Ser399Gly)
c.1360A>G (p.Ser454Gly)
c.*860A>G (n.*860A>G)
c.1027A>G (p.Ser343Gly)
c.1486A>G (p.Ser496Gly)
c.1378A>G (p.Ser460Gly)
c.1531A>G (p.Ser511Gly)
c.1483A>G (p.Ser495Gly)
c.1366A>G (p.Ser456Gly)
c.1348A>G (p.Ser450Gly)
3g.69965201A>TCA353560037MITFc.1468A>T (p.Ser490Cys)
c.1465A>T (p.Ser489Cys)
n.1690A>T
c.1441A>T (p.Ser481Cys)
c.*279A>T (n.*279A>T)
c.1534A>T (p.Ser512Cys)
c.1213A>T (p.Ser405Cys)
c.1513A>T (p.Ser505Cys)
c.1516A>T (p.Ser506Cys)
c.1195A>T (p.Ser399Cys)
c.1360A>T (p.Ser454Cys)
c.*860A>T (n.*860A>T)
c.1027A>T (p.Ser343Cys)
c.1486A>T (p.Ser496Cys)
c.1378A>T (p.Ser460Cys)
c.1531A>T (p.Ser511Cys)
c.1483A>T (p.Ser495Cys)
c.1366A>T (p.Ser456Cys)
c.1348A>T (p.Ser450Cys)
3g.69965202G>ACA353560038MITFc.1469G>A (p.Ser490Asn)
c.1466G>A (p.Ser489Asn)
n.1691G>A
c.1442G>A (p.Ser481Asn)
c.*280G>A (n.*280G>A)
c.1535G>A (p.Ser512Asn)
c.1214G>A (p.Ser405Asn)
c.1514G>A (p.Ser505Asn)
c.1517G>A (p.Ser506Asn)
c.1196G>A (p.Ser399Asn)
c.1361G>A (p.Ser454Asn)
c.*861G>A (n.*861G>A)
c.1028G>A (p.Ser343Asn)
c.1487G>A (p.Ser496Asn)
c.1379G>A (p.Ser460Asn)
c.1532G>A (p.Ser511Asn)
c.1484G>A (p.Ser495Asn)
c.1367G>A (p.Ser456Asn)
c.1349G>A (p.Ser450Asn)
3g.69965202G>CCA353560039MITFc.1469G>C (p.Ser490Thr)
c.1466G>C (p.Ser489Thr)
n.1691G>C
c.1442G>C (p.Ser481Thr)
c.*280G>C (n.*280G>C)
c.1535G>C (p.Ser512Thr)
c.1214G>C (p.Ser405Thr)
c.1514G>C (p.Ser505Thr)
c.1517G>C (p.Ser506Thr)
c.1196G>C (p.Ser399Thr)
c.1361G>C (p.Ser454Thr)
c.*861G>C (n.*861G>C)
c.1028G>C (p.Ser343Thr)
c.1487G>C (p.Ser496Thr)
c.1379G>C (p.Ser460Thr)
c.1532G>C (p.Ser511Thr)
c.1484G>C (p.Ser495Thr)
c.1367G>C (p.Ser456Thr)
c.1349G>C (p.Ser450Thr)
3g.69965202G>TCA353560040MITFc.1469G>T (p.Ser490Ile)
c.1466G>T (p.Ser489Ile)
n.1691G>T
c.1442G>T (p.Ser481Ile)
c.*280G>T (n.*280G>T)
c.1535G>T (p.Ser512Ile)
c.1214G>T (p.Ser405Ile)
c.1514G>T (p.Ser505Ile)
c.1517G>T (p.Ser506Ile)
c.1196G>T (p.Ser399Ile)
c.1361G>T (p.Ser454Ile)
c.*861G>T (n.*861G>T)
c.1028G>T (p.Ser343Ile)
c.1487G>T (p.Ser496Ile)
c.1379G>T (p.Ser460Ile)
c.1532G>T (p.Ser511Ile)
c.1484G>T (p.Ser495Ile)
c.1367G>T (p.Ser456Ile)
c.1349G>T (p.Ser450Ile)
3g.69965203C>ACA353560041MITFc.1470C>A (p.Ser490Arg)
c.1467C>A (p.Ser489Arg)
n.1692C>A
c.1443C>A (p.Ser481Arg)
c.*281C>A (n.*281C>A)
c.1536C>A (p.Ser512Arg)
c.1215C>A (p.Ser405Arg)
c.1515C>A (p.Ser505Arg)
c.1518C>A (p.Ser506Arg)
c.1197C>A (p.Ser399Arg)
c.1362C>A (p.Ser454Arg)
c.*862C>A (n.*862C>A)
c.1029C>A (p.Ser343Arg)
c.1488C>A (p.Ser496Arg)
c.1380C>A (p.Ser460Arg)
c.1533C>A (p.Ser511Arg)
c.1485C>A (p.Ser495Arg)
c.1368C>A (p.Ser456Arg)
c.1350C>A (p.Ser450Arg)
 dbSNP
3g.69965203C=CA1373414515MITFc.1470C= (p.Ser490=)
c.1467C= (p.Ser489=)
n.1692C=
c.1443C= (p.Ser481=)
c.*281C= (n.*281C=)
c.1536C= (p.Ser512=)
c.1215C= (p.Ser405=)
c.1515C= (p.Ser505=)
c.1518C= (p.Ser506=)
c.1197C= (p.Ser399=)
c.1362C= (p.Ser454=)
c.*862C= (n.*862C=)
c.1029C= (p.Ser343=)
c.1488C= (p.Ser496=)
c.1380C= (p.Ser460=)
c.1533C= (p.Ser511=)
c.1485C= (p.Ser495=)
c.1368C= (p.Ser456=)
c.1350C= (p.Ser450=)
3g.69965203C>GCA353560042MITFc.1470C>G (p.Ser490Arg)
c.1467C>G (p.Ser489Arg)
n.1692C>G
c.1443C>G (p.Ser481Arg)
c.*281C>G (n.*281C>G)
c.1536C>G (p.Ser512Arg)
c.1215C>G (p.Ser405Arg)
c.1515C>G (p.Ser505Arg)
c.1518C>G (p.Ser506Arg)
c.1197C>G (p.Ser399Arg)
c.1362C>G (p.Ser454Arg)
c.*862C>G (n.*862C>G)
c.1029C>G (p.Ser343Arg)
c.1488C>G (p.Ser496Arg)
c.1380C>G (p.Ser460Arg)
c.1533C>G (p.Ser511Arg)
c.1485C>G (p.Ser495Arg)
c.1368C>G (p.Ser456Arg)
c.1350C>G (p.Ser450Arg)
 dbSNP gnomAD v4
3g.69965203C>TCA434305534MITFc.1470C>T (p.Ser490=)
c.1467C>T (p.Ser489=)
n.1692C>T
c.1443C>T (p.Ser481=)
c.*281C>T (n.*281C>T)
c.1536C>T (p.Ser512=)
c.1215C>T (p.Ser405=)
c.1515C>T (p.Ser505=)
c.1518C>T (p.Ser506=)
c.1197C>T (p.Ser399=)
c.1362C>T (p.Ser454=)
c.*862C>T (n.*862C>T)
c.1029C>T (p.Ser343=)
c.1488C>T (p.Ser496=)
c.1380C>T (p.Ser460=)
c.1533C>T (p.Ser511=)
c.1485C>T (p.Ser495=)
c.1368C>T (p.Ser456=)
c.1350C>T (p.Ser450=)
 dbSNP gnomAD v4
3g.69965204C>ACA434305535MITFc.1471C>A (p.Arg491=)
c.1468C>A (p.Arg490=)
n.1693C>A
c.1444C>A (p.Arg482=)
c.*282C>A (n.*282C>A)
c.1537C>A (p.Arg513=)
c.1216C>A (p.Arg406=)
c.1516C>A (p.Arg506=)
c.1519C>A (p.Arg507=)
c.1198C>A (p.Arg400=)
c.1363C>A (p.Arg455=)
c.*863C>A (n.*863C>A)
c.1030C>A (p.Arg344=)
c.1489C>A (p.Arg497=)
c.1381C>A (p.Arg461=)
c.1534C>A (p.Arg512=)
c.1486C>A (p.Arg496=)
c.1369C>A (p.Arg457=)
c.1351C>A (p.Arg451=)
 ClinVar COSMIC COSMIC COSMIC COSMIC
3g.69965204C=CA1373414523MITFc.1471C= (p.Arg491=)
c.1468C= (p.Arg490=)
n.1693C=
c.1444C= (p.Arg482=)
c.*282C= (n.*282C=)
c.1537C= (p.Arg513=)
c.1216C= (p.Arg406=)
c.1516C= (p.Arg506=)
c.1519C= (p.Arg507=)
c.1198C= (p.Arg400=)
c.1363C= (p.Arg455=)
c.*863C= (n.*863C=)
c.1030C= (p.Arg344=)
c.1489C= (p.Arg497=)
c.1381C= (p.Arg461=)
c.1534C= (p.Arg512=)
c.1486C= (p.Arg496=)
c.1369C= (p.Arg457=)
c.1351C= (p.Arg451=)
3g.69965204C>GCA2490694MITFc.1471C>G (p.Arg491Gly)
c.1468C>G (p.Arg490Gly)
n.1693C>G
c.1444C>G (p.Arg482Gly)
c.*282C>G (n.*282C>G)
c.1537C>G (p.Arg513Gly)
c.1216C>G (p.Arg406Gly)
c.1516C>G (p.Arg506Gly)
c.1519C>G (p.Arg507Gly)
c.1198C>G (p.Arg400Gly)
c.1363C>G (p.Arg455Gly)
c.*863C>G (n.*863C>G)
c.1030C>G (p.Arg344Gly)
c.1489C>G (p.Arg497Gly)
c.1381C>G (p.Arg461Gly)
c.1534C>G (p.Arg512Gly)
c.1486C>G (p.Arg496Gly)
c.1369C>G (p.Arg457Gly)
c.1351C>G (p.Arg451Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.69965204C>TCA2490693MITFc.1471C>T (p.Arg491Trp)
c.1468C>T (p.Arg490Trp)
n.1693C>T
c.1444C>T (p.Arg482Trp)
c.*282C>T (n.*282C>T)
c.1537C>T (p.Arg513Trp)
c.1216C>T (p.Arg406Trp)
c.1516C>T (p.Arg506Trp)
c.1519C>T (p.Arg507Trp)
c.1198C>T (p.Arg400Trp)
c.1363C>T (p.Arg455Trp)
c.*863C>T (n.*863C>T)
c.1030C>T (p.Arg344Trp)
c.1489C>T (p.Arg497Trp)
c.1381C>T (p.Arg461Trp)
c.1534C>T (p.Arg512Trp)
c.1486C>T (p.Arg496Trp)
c.1369C>T (p.Arg457Trp)
c.1351C>T (p.Arg451Trp)
 dbSNP ExAC gnomAD v4 COSMIC COSMIC COSMIC COSMIC
3g.69965205G>ACA77003531MITFc.1472G>A (p.Arg491Gln)
c.1469G>A (p.Arg490Gln)
n.1694G>A
c.1445G>A (p.Arg482Gln)
c.*283G>A (n.*283G>A)
c.1538G>A (p.Arg513Gln)
c.1217G>A (p.Arg406Gln)
c.1517G>A (p.Arg506Gln)
c.1520G>A (p.Arg507Gln)
c.1199G>A (p.Arg400Gln)
c.1364G>A (p.Arg455Gln)
c.*864G>A (n.*864G>A)
c.1031G>A (p.Arg344Gln)
c.1490G>A (p.Arg497Gln)
c.1382G>A (p.Arg461Gln)
c.1535G>A (p.Arg512Gln)
c.1487G>A (p.Arg496Gln)
c.1370G>A (p.Arg457Gln)
c.1352G>A (p.Arg451Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.69965205G>CCA353560043MITFc.1472G>C (p.Arg491Pro)
c.1469G>C (p.Arg490Pro)
n.1694G>C
c.1445G>C (p.Arg482Pro)
c.*283G>C (n.*283G>C)
c.1538G>C (p.Arg513Pro)
c.1217G>C (p.Arg406Pro)
c.1517G>C (p.Arg506Pro)
c.1520G>C (p.Arg507Pro)
c.1199G>C (p.Arg400Pro)
c.1364G>C (p.Arg455Pro)
c.*864G>C (n.*864G>C)
c.1031G>C (p.Arg344Pro)
c.1490G>C (p.Arg497Pro)
c.1382G>C (p.Arg461Pro)
c.1535G>C (p.Arg512Pro)
c.1487G>C (p.Arg496Pro)
c.1370G>C (p.Arg457Pro)
c.1352G>C (p.Arg451Pro)
3g.69965205G=CA1373414530MITFc.1472G= (p.Arg491=)
c.1469G= (p.Arg490=)
n.1694G=
c.1445G= (p.Arg482=)
c.*283G= (n.*283G=)
c.1538G= (p.Arg513=)
c.1217G= (p.Arg406=)
c.1517G= (p.Arg506=)
c.1520G= (p.Arg507=)
c.1199G= (p.Arg400=)
c.1364G= (p.Arg455=)
c.*864G= (n.*864G=)
c.1031G= (p.Arg344=)
c.1490G= (p.Arg497=)
c.1382G= (p.Arg461=)
c.1535G= (p.Arg512=)
c.1487G= (p.Arg496=)
c.1370G= (p.Arg457=)
c.1352G= (p.Arg451=)
3g.69965205G>TCA353560044MITFc.1472G>T (p.Arg491Leu)
c.1469G>T (p.Arg490Leu)
n.1694G>T
c.1445G>T (p.Arg482Leu)
c.*283G>T (n.*283G>T)
c.1538G>T (p.Arg513Leu)
c.1217G>T (p.Arg406Leu)
c.1517G>T (p.Arg506Leu)
c.1520G>T (p.Arg507Leu)
c.1199G>T (p.Arg400Leu)
c.1364G>T (p.Arg455Leu)
c.*864G>T (n.*864G>T)
c.1031G>T (p.Arg344Leu)
c.1490G>T (p.Arg497Leu)
c.1382G>T (p.Arg461Leu)
c.1535G>T (p.Arg512Leu)
c.1487G>T (p.Arg496Leu)
c.1370G>T (p.Arg457Leu)
c.1352G>T (p.Arg451Leu)
 gnomAD v4
3g.69965206G>ACA434305536MITFc.1473G>A (p.Arg491=)
c.1470G>A (p.Arg490=)
n.1695G>A
c.1446G>A (p.Arg482=)
c.*284G>A (n.*284G>A)
c.1539G>A (p.Arg513=)
c.1218G>A (p.Arg406=)
c.1518G>A (p.Arg506=)
c.1521G>A (p.Arg507=)
c.1200G>A (p.Arg400=)
c.1365G>A (p.Arg455=)
c.*865G>A (n.*865G>A)
c.1032G>A (p.Arg344=)
c.1491G>A (p.Arg497=)
c.1383G>A (p.Arg461=)
c.1536G>A (p.Arg512=)
c.1488G>A (p.Arg496=)
c.1371G>A (p.Arg457=)
c.1353G>A (p.Arg451=)
3g.69965206G>CCA434305537MITFc.1473G>C (p.Arg491=)
c.1470G>C (p.Arg490=)
n.1695G>C
c.1446G>C (p.Arg482=)
c.*284G>C (n.*284G>C)
c.1539G>C (p.Arg513=)
c.1218G>C (p.Arg406=)
c.1518G>C (p.Arg506=)
c.1521G>C (p.Arg507=)
c.1200G>C (p.Arg400=)
c.1365G>C (p.Arg455=)
c.*865G>C (n.*865G>C)
c.1032G>C (p.Arg344=)
c.1491G>C (p.Arg497=)
c.1383G>C (p.Arg461=)
c.1536G>C (p.Arg512=)
c.1488G>C (p.Arg496=)
c.1371G>C (p.Arg457=)
c.1353G>C (p.Arg451=)
3g.69965206G>TCA434305538MITFc.1473G>T (p.Arg491=)
c.1470G>T (p.Arg490=)
n.1695G>T
c.1446G>T (p.Arg482=)
c.*284G>T (n.*284G>T)
c.1539G>T (p.Arg513=)
c.1218G>T (p.Arg406=)
c.1518G>T (p.Arg506=)
c.1521G>T (p.Arg507=)
c.1200G>T (p.Arg400=)
c.1365G>T (p.Arg455=)
c.*865G>T (n.*865G>T)
c.1032G>T (p.Arg344=)
c.1491G>T (p.Arg497=)
c.1383G>T (p.Arg461=)
c.1536G>T (p.Arg512=)
c.1488G>T (p.Arg496=)
c.1371G>T (p.Arg457=)
c.1353G>T (p.Arg451=)
3g.69965207A>CCA434305539MITFc.1474A>C (p.Arg492=)
c.1471A>C (p.Arg491=)
n.1696A>C
c.1447A>C (p.Arg483=)
c.*285A>C (n.*285A>C)
c.1540A>C (p.Arg514=)
c.1219A>C (p.Arg407=)
c.1519A>C (p.Arg507=)
c.1522A>C (p.Arg508=)
c.1201A>C (p.Arg401=)
c.1366A>C (p.Arg456=)
c.*866A>C (n.*866A>C)
c.1033A>C (p.Arg345=)
c.1492A>C (p.Arg498=)
c.1384A>C (p.Arg462=)
c.1537A>C (p.Arg513=)
c.1489A>C (p.Arg497=)
c.1372A>C (p.Arg458=)
c.1354A>C (p.Arg452=)
3g.69965207A>GCA353560046MITFc.1474A>G (p.Arg492Gly)
c.1471A>G (p.Arg491Gly)
n.1696A>G
c.1447A>G (p.Arg483Gly)
c.*285A>G (n.*285A>G)
c.1540A>G (p.Arg514Gly)
c.1219A>G (p.Arg407Gly)
c.1519A>G (p.Arg507Gly)
c.1522A>G (p.Arg508Gly)
c.1201A>G (p.Arg401Gly)
c.1366A>G (p.Arg456Gly)
c.*866A>G (n.*866A>G)
c.1033A>G (p.Arg345Gly)
c.1492A>G (p.Arg498Gly)
c.1384A>G (p.Arg462Gly)
c.1537A>G (p.Arg513Gly)
c.1489A>G (p.Arg497Gly)
c.1372A>G (p.Arg458Gly)
c.1354A>G (p.Arg452Gly)
3g.69965207A>TCA353560045MITFc.1474A>T (p.Arg492Trp)
c.1471A>T (p.Arg491Trp)
n.1696A>T
c.1447A>T (p.Arg483Trp)
c.*285A>T (n.*285A>T)
c.1540A>T (p.Arg514Trp)
c.1219A>T (p.Arg407Trp)
c.1519A>T (p.Arg507Trp)
c.1522A>T (p.Arg508Trp)
c.1201A>T (p.Arg401Trp)
c.1366A>T (p.Arg456Trp)
c.*866A>T (n.*866A>T)
c.1033A>T (p.Arg345Trp)
c.1492A>T (p.Arg498Trp)
c.1384A>T (p.Arg462Trp)
c.1537A>T (p.Arg513Trp)
c.1489A>T (p.Arg497Trp)
c.1372A>T (p.Arg458Trp)
c.1354A>T (p.Arg452Trp)
3g.69965208G>ACA353560047MITFc.1475G>A (p.Arg492Lys)
c.1472G>A (p.Arg491Lys)
n.1697G>A
c.1448G>A (p.Arg483Lys)
c.*286G>A (n.*286G>A)
c.1541G>A (p.Arg514Lys)
c.1220G>A (p.Arg407Lys)
c.1520G>A (p.Arg507Lys)
c.1523G>A (p.Arg508Lys)
c.1202G>A (p.Arg401Lys)
c.1367G>A (p.Arg456Lys)
c.*867G>A (n.*867G>A)
c.1034G>A (p.Arg345Lys)
c.1493G>A (p.Arg498Lys)
c.1385G>A (p.Arg462Lys)
c.1538G>A (p.Arg513Lys)
c.1490G>A (p.Arg497Lys)
c.1373G>A (p.Arg458Lys)
c.1355G>A (p.Arg452Lys)
 ClinVar dbSNP
3g.69965208G>CCA353560049MITFc.1475G>C (p.Arg492Thr)
c.1472G>C (p.Arg491Thr)
n.1697G>C
c.1448G>C (p.Arg483Thr)
c.*286G>C (n.*286G>C)
c.1541G>C (p.Arg514Thr)
c.1220G>C (p.Arg407Thr)
c.1520G>C (p.Arg507Thr)
c.1523G>C (p.Arg508Thr)
c.1202G>C (p.Arg401Thr)
c.1367G>C (p.Arg456Thr)
c.*867G>C (n.*867G>C)
c.1034G>C (p.Arg345Thr)
c.1493G>C (p.Arg498Thr)
c.1385G>C (p.Arg462Thr)
c.1538G>C (p.Arg513Thr)
c.1490G>C (p.Arg497Thr)
c.1373G>C (p.Arg458Thr)
c.1355G>C (p.Arg452Thr)
3g.69965208G>TCA353560048MITFc.1475G>T (p.Arg492Met)
c.1472G>T (p.Arg491Met)
n.1697G>T
c.1448G>T (p.Arg483Met)
c.*286G>T (n.*286G>T)
c.1541G>T (p.Arg514Met)
c.1220G>T (p.Arg407Met)
c.1520G>T (p.Arg507Met)
c.1523G>T (p.Arg508Met)
c.1202G>T (p.Arg401Met)
c.1367G>T (p.Arg456Met)
c.*867G>T (n.*867G>T)
c.1034G>T (p.Arg345Met)
c.1493G>T (p.Arg498Met)
c.1385G>T (p.Arg462Met)
c.1538G>T (p.Arg513Met)
c.1490G>T (p.Arg497Met)
c.1373G>T (p.Arg458Met)
c.1355G>T (p.Arg452Met)
3g.69965209G>ACA2490695MITFc.1476G>A (p.Arg492=)
c.1473G>A (p.Arg491=)
n.1698G>A
c.1449G>A (p.Arg483=)
c.*287G>A (n.*287G>A)
c.1542G>A (p.Arg514=)
c.1221G>A (p.Arg407=)
c.1521G>A (p.Arg507=)
c.1524G>A (p.Arg508=)
c.1203G>A (p.Arg401=)
c.1368G>A (p.Arg456=)
c.*868G>A (n.*868G>A)
c.1035G>A (p.Arg345=)
c.1494G>A (p.Arg498=)
c.1386G>A (p.Arg462=)
c.1539G>A (p.Arg513=)
c.1491G>A (p.Arg497=)
c.1374G>A (p.Arg458=)
c.1356G>A (p.Arg452=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.69965209G>CCA353560050MITFc.1476G>C (p.Arg492Ser)
c.1473G>C (p.Arg491Ser)
n.1698G>C
c.1449G>C (p.Arg483Ser)
c.*287G>C (n.*287G>C)
c.1542G>C (p.Arg514Ser)
c.1221G>C (p.Arg407Ser)
c.1521G>C (p.Arg507Ser)
c.1524G>C (p.Arg508Ser)
c.1203G>C (p.Arg401Ser)
c.1368G>C (p.Arg456Ser)
c.*868G>C (n.*868G>C)
c.1035G>C (p.Arg345Ser)
c.1494G>C (p.Arg498Ser)
c.1386G>C (p.Arg462Ser)
c.1539G>C (p.Arg513Ser)
c.1491G>C (p.Arg497Ser)
c.1374G>C (p.Arg458Ser)
c.1356G>C (p.Arg452Ser)
 gnomAD v4
3g.69965209G=CA1373414537MITFc.1476G= (p.Arg492=)
c.1473G= (p.Arg491=)
n.1698G=
c.1449G= (p.Arg483=)
c.*287G= (n.*287G=)
c.1542G= (p.Arg514=)
c.1221G= (p.Arg407=)
c.1521G= (p.Arg507=)
c.1524G= (p.Arg508=)
c.1203G= (p.Arg401=)
c.1368G= (p.Arg456=)
c.*868G= (n.*868G=)
c.1035G= (p.Arg345=)
c.1494G= (p.Arg498=)
c.1386G= (p.Arg462=)
c.1539G= (p.Arg513=)
c.1491G= (p.Arg497=)
c.1374G= (p.Arg458=)
c.1356G= (p.Arg452=)
3g.69965209G>TCA353560051MITFc.1476G>T (p.Arg492Ser)
c.1473G>T (p.Arg491Ser)
n.1698G>T
c.1449G>T (p.Arg483Ser)
c.*287G>T (n.*287G>T)
c.1542G>T (p.Arg514Ser)
c.1221G>T (p.Arg407Ser)
c.1521G>T (p.Arg507Ser)
c.1524G>T (p.Arg508Ser)
c.1203G>T (p.Arg401Ser)
c.1368G>T (p.Arg456Ser)
c.*868G>T (n.*868G>T)
c.1035G>T (p.Arg345Ser)
c.1494G>T (p.Arg498Ser)
c.1386G>T (p.Arg462Ser)
c.1539G>T (p.Arg513Ser)
c.1491G>T (p.Arg497Ser)
c.1374G>T (p.Arg458Ser)
c.1356G>T (p.Arg452Ser)
3g.69965210A>CCA353560052MITFc.1477A>C (p.Ser493Arg)
c.1474A>C (p.Ser492Arg)
n.1699A>C
c.1450A>C (p.Ser484Arg)
c.*288A>C (n.*288A>C)
c.1543A>C (p.Ser515Arg)
c.1222A>C (p.Ser408Arg)
c.1522A>C (p.Ser508Arg)
c.1525A>C (p.Ser509Arg)
c.1204A>C (p.Ser402Arg)
c.1369A>C (p.Ser457Arg)
c.*869A>C (n.*869A>C)
c.1036A>C (p.Ser346Arg)
c.1495A>C (p.Ser499Arg)
c.1387A>C (p.Ser463Arg)
c.1540A>C (p.Ser514Arg)
c.1492A>C (p.Ser498Arg)
c.1375A>C (p.Ser459Arg)
c.1357A>C (p.Ser453Arg)
3g.69965210A>GCA353560053MITFc.1477A>G (p.Ser493Gly)
c.1474A>G (p.Ser492Gly)
n.1699A>G
c.1450A>G (p.Ser484Gly)
c.*288A>G (n.*288A>G)
c.1543A>G (p.Ser515Gly)
c.1222A>G (p.Ser408Gly)
c.1522A>G (p.Ser508Gly)
c.1525A>G (p.Ser509Gly)
c.1204A>G (p.Ser402Gly)
c.1369A>G (p.Ser457Gly)
c.*869A>G (n.*869A>G)
c.1036A>G (p.Ser346Gly)
c.1495A>G (p.Ser499Gly)
c.1387A>G (p.Ser463Gly)
c.1540A>G (p.Ser514Gly)
c.1492A>G (p.Ser498Gly)
c.1375A>G (p.Ser459Gly)
c.1357A>G (p.Ser453Gly)
3g.69965210A>TCA353560054MITFc.1477A>T (p.Ser493Cys)
c.1474A>T (p.Ser492Cys)
n.1699A>T
c.1450A>T (p.Ser484Cys)
c.*288A>T (n.*288A>T)
c.1543A>T (p.Ser515Cys)
c.1222A>T (p.Ser408Cys)
c.1522A>T (p.Ser508Cys)
c.1525A>T (p.Ser509Cys)
c.1204A>T (p.Ser402Cys)
c.1369A>T (p.Ser457Cys)
c.*869A>T (n.*869A>T)
c.1036A>T (p.Ser346Cys)
c.1495A>T (p.Ser499Cys)
c.1387A>T (p.Ser463Cys)
c.1540A>T (p.Ser514Cys)
c.1492A>T (p.Ser498Cys)
c.1375A>T (p.Ser459Cys)
c.1357A>T (p.Ser453Cys)
3g.69965211G>ACA353560055MITFc.1478G>A (p.Ser493Asn)
c.1475G>A (p.Ser492Asn)
n.1700G>A
c.1451G>A (p.Ser484Asn)
c.*289G>A (n.*289G>A)
c.1544G>A (p.Ser515Asn)
c.1223G>A (p.Ser408Asn)
c.1523G>A (p.Ser508Asn)
c.1526G>A (p.Ser509Asn)
c.1205G>A (p.Ser402Asn)
c.1370G>A (p.Ser457Asn)
c.*870G>A (n.*870G>A)
c.1037G>A (p.Ser346Asn)
c.1496G>A (p.Ser499Asn)
c.1388G>A (p.Ser463Asn)
c.1541G>A (p.Ser514Asn)
c.1493G>A (p.Ser498Asn)
c.1376G>A (p.Ser459Asn)
c.1358G>A (p.Ser453Asn)
 dbSNP
3g.69965211G>CCA353560056MITFc.1478G>C (p.Ser493Thr)
c.1475G>C (p.Ser492Thr)
n.1700G>C
c.1451G>C (p.Ser484Thr)
c.*289G>C (n.*289G>C)
c.1544G>C (p.Ser515Thr)
c.1223G>C (p.Ser408Thr)
c.1523G>C (p.Ser508Thr)
c.1526G>C (p.Ser509Thr)
c.1205G>C (p.Ser402Thr)
c.1370G>C (p.Ser457Thr)
c.*870G>C (n.*870G>C)
c.1037G>C (p.Ser346Thr)
c.1496G>C (p.Ser499Thr)
c.1388G>C (p.Ser463Thr)
c.1541G>C (p.Ser514Thr)
c.1493G>C (p.Ser498Thr)
c.1376G>C (p.Ser459Thr)
c.1358G>C (p.Ser453Thr)
3g.69965211G>TCA353560057MITFc.1478G>T (p.Ser493Ile)
c.1475G>T (p.Ser492Ile)
n.1700G>T
c.1451G>T (p.Ser484Ile)
c.*289G>T (n.*289G>T)
c.1544G>T (p.Ser515Ile)
c.1223G>T (p.Ser408Ile)
c.1523G>T (p.Ser508Ile)
c.1526G>T (p.Ser509Ile)
c.1205G>T (p.Ser402Ile)
c.1370G>T (p.Ser457Ile)
c.*870G>T (n.*870G>T)
c.1037G>T (p.Ser346Ile)
c.1496G>T (p.Ser499Ile)
c.1388G>T (p.Ser463Ile)
c.1541G>T (p.Ser514Ile)
c.1493G>T (p.Ser498Ile)
c.1376G>T (p.Ser459Ile)
c.1358G>T (p.Ser453Ile)
3g.69965212C>ACA353560058MITFc.1479C>A (p.Ser493Arg)
c.1476C>A (p.Ser492Arg)
n.1701C>A
c.1452C>A (p.Ser484Arg)
c.*290C>A (n.*290C>A)
c.1545C>A (p.Ser515Arg)
c.1224C>A (p.Ser408Arg)
c.1524C>A (p.Ser508Arg)
c.1527C>A (p.Ser509Arg)
c.1206C>A (p.Ser402Arg)
c.1371C>A (p.Ser457Arg)
c.*871C>A (n.*871C>A)
c.1038C>A (p.Ser346Arg)
c.1497C>A (p.Ser499Arg)
c.1389C>A (p.Ser463Arg)
c.1542C>A (p.Ser514Arg)
c.1494C>A (p.Ser498Arg)
c.1377C>A (p.Ser459Arg)
c.1359C>A (p.Ser453Arg)
 ClinVar
3g.69965212C=CA1373414545MITFc.1479C= (p.Ser493=)
c.1476C= (p.Ser492=)
n.1701C=
c.1452C= (p.Ser484=)
c.*290C= (n.*290C=)
c.1545C= (p.Ser515=)
c.1224C= (p.Ser408=)
c.1524C= (p.Ser508=)
c.1527C= (p.Ser509=)
c.1206C= (p.Ser402=)
c.1371C= (p.Ser457=)
c.*871C= (n.*871C=)
c.1038C= (p.Ser346=)
c.1497C= (p.Ser499=)
c.1389C= (p.Ser463=)
c.1542C= (p.Ser514=)
c.1494C= (p.Ser498=)
c.1377C= (p.Ser459=)
c.1359C= (p.Ser453=)
3g.69965212C>GCA77003532MITFc.1479C>G (p.Ser493Arg)
c.1476C>G (p.Ser492Arg)
n.1701C>G
c.1452C>G (p.Ser484Arg)
c.*290C>G (n.*290C>G)
c.1545C>G (p.Ser515Arg)
c.1224C>G (p.Ser408Arg)
c.1524C>G (p.Ser508Arg)
c.1527C>G (p.Ser509Arg)
c.1206C>G (p.Ser402Arg)
c.1371C>G (p.Ser457Arg)
c.*871C>G (n.*871C>G)
c.1038C>G (p.Ser346Arg)
c.1497C>G (p.Ser499Arg)
c.1389C>G (p.Ser463Arg)
c.1542C>G (p.Ser514Arg)
c.1494C>G (p.Ser498Arg)
c.1377C>G (p.Ser459Arg)
c.1359C>G (p.Ser453Arg)
 dbSNP gnomAD v4
3g.69965212C>TCA2490696MITFc.1479C>T (p.Ser493=)
c.1476C>T (p.Ser492=)
n.1701C>T
c.1452C>T (p.Ser484=)
c.*290C>T (n.*290C>T)
c.1545C>T (p.Ser515=)
c.1224C>T (p.Ser408=)
c.1524C>T (p.Ser508=)
c.1527C>T (p.Ser509=)
c.1206C>T (p.Ser402=)
c.1371C>T (p.Ser457=)
c.*871C>T (n.*871C>T)
c.1038C>T (p.Ser346=)
c.1497C>T (p.Ser499=)
c.1389C>T (p.Ser463=)
c.1542C>T (p.Ser514=)
c.1494C>T (p.Ser498=)
c.1377C>T (p.Ser459=)
c.1359C>T (p.Ser453=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.69965213A>CCA353560061MITFc.1480A>C (p.Ser494Arg)
c.1477A>C (p.Ser493Arg)
n.1702A>C
c.1453A>C (p.Ser485Arg)
c.*291A>C (n.*291A>C)
c.1546A>C (p.Ser516Arg)
c.1225A>C (p.Ser409Arg)
c.1525A>C (p.Ser509Arg)
c.1528A>C (p.Ser510Arg)
c.1207A>C (p.Ser403Arg)
c.1372A>C (p.Ser458Arg)
c.*872A>C (n.*872A>C)
c.1039A>C (p.Ser347Arg)
c.1498A>C (p.Ser500Arg)
c.1390A>C (p.Ser464Arg)
c.1543A>C (p.Ser515Arg)
c.1495A>C (p.Ser499Arg)
c.1378A>C (p.Ser460Arg)
c.1360A>C (p.Ser454Arg)
3g.69965213A>GCA353560059MITFc.1480A>G (p.Ser494Gly)
c.1477A>G (p.Ser493Gly)
n.1702A>G
c.1453A>G (p.Ser485Gly)
c.*291A>G (n.*291A>G)
c.1546A>G (p.Ser516Gly)
c.1225A>G (p.Ser409Gly)
c.1525A>G (p.Ser509Gly)
c.1528A>G (p.Ser510Gly)
c.1207A>G (p.Ser403Gly)
c.1372A>G (p.Ser458Gly)
c.*872A>G (n.*872A>G)
c.1039A>G (p.Ser347Gly)
c.1498A>G (p.Ser500Gly)
c.1390A>G (p.Ser464Gly)
c.1543A>G (p.Ser515Gly)
c.1495A>G (p.Ser499Gly)
c.1378A>G (p.Ser460Gly)
c.1360A>G (p.Ser454Gly)
3g.69965213A>TCA353560060MITFc.1480A>T (p.Ser494Cys)
c.1477A>T (p.Ser493Cys)
n.1702A>T
c.1453A>T (p.Ser485Cys)
c.*291A>T (n.*291A>T)
c.1546A>T (p.Ser516Cys)
c.1225A>T (p.Ser409Cys)
c.1525A>T (p.Ser509Cys)
c.1528A>T (p.Ser510Cys)
c.1207A>T (p.Ser403Cys)
c.1372A>T (p.Ser458Cys)
c.*872A>T (n.*872A>T)
c.1039A>T (p.Ser347Cys)
c.1498A>T (p.Ser500Cys)
c.1390A>T (p.Ser464Cys)
c.1543A>T (p.Ser515Cys)
c.1495A>T (p.Ser499Cys)
c.1378A>T (p.Ser460Cys)
c.1360A>T (p.Ser454Cys)
3g.69965214G>ACA353560062MITFc.1481G>A (p.Ser494Asn)
c.1478G>A (p.Ser493Asn)
n.1703G>A
c.1454G>A (p.Ser485Asn)
c.*292G>A (n.*292G>A)
c.1547G>A (p.Ser516Asn)
c.1226G>A (p.Ser409Asn)
c.1526G>A (p.Ser509Asn)
c.1529G>A (p.Ser510Asn)
c.1208G>A (p.Ser403Asn)
c.1373G>A (p.Ser458Asn)
c.*873G>A (n.*873G>A)
c.1040G>A (p.Ser347Asn)
c.1499G>A (p.Ser500Asn)
c.1391G>A (p.Ser464Asn)
c.1544G>A (p.Ser515Asn)
c.1496G>A (p.Ser499Asn)
c.1379G>A (p.Ser460Asn)
c.1361G>A (p.Ser454Asn)
 dbSNP gnomAD v4
3g.69965214G>CCA2490697MITFc.1481G>C (p.Ser494Thr)
c.1478G>C (p.Ser493Thr)
n.1703G>C
c.1454G>C (p.Ser485Thr)
c.*292G>C (n.*292G>C)
c.1547G>C (p.Ser516Thr)
c.1226G>C (p.Ser409Thr)
c.1526G>C (p.Ser509Thr)
c.1529G>C (p.Ser510Thr)
c.1208G>C (p.Ser403Thr)
c.1373G>C (p.Ser458Thr)
c.*873G>C (n.*873G>C)
c.1040G>C (p.Ser347Thr)
c.1499G>C (p.Ser500Thr)
c.1391G>C (p.Ser464Thr)
c.1544G>C (p.Ser515Thr)
c.1496G>C (p.Ser499Thr)
c.1379G>C (p.Ser460Thr)
c.1361G>C (p.Ser454Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.69965214G=CA1373414547MITFc.1481G= (p.Ser494=)
c.1478G= (p.Ser493=)
n.1703G=
c.1454G= (p.Ser485=)
c.*292G= (n.*292G=)
c.1547G= (p.Ser516=)
c.1226G= (p.Ser409=)
c.1526G= (p.Ser509=)
c.1529G= (p.Ser510=)
c.1208G= (p.Ser403=)
c.1373G= (p.Ser458=)
c.*873G= (n.*873G=)
c.1040G= (p.Ser347=)
c.1499G= (p.Ser500=)
c.1391G= (p.Ser464=)
c.1544G= (p.Ser515=)
c.1496G= (p.Ser499=)
c.1379G= (p.Ser460=)
c.1361G= (p.Ser454=)
3g.69965214G>TCA353560063MITFc.1481G>T (p.Ser494Ile)
c.1478G>T (p.Ser493Ile)
n.1703G>T
c.1454G>T (p.Ser485Ile)
c.*292G>T (n.*292G>T)
c.1547G>T (p.Ser516Ile)
c.1226G>T (p.Ser409Ile)
c.1526G>T (p.Ser509Ile)
c.1529G>T (p.Ser510Ile)
c.1208G>T (p.Ser403Ile)
c.1373G>T (p.Ser458Ile)
c.*873G>T (n.*873G>T)
c.1040G>T (p.Ser347Ile)
c.1499G>T (p.Ser500Ile)
c.1391G>T (p.Ser464Ile)
c.1544G>T (p.Ser515Ile)
c.1496G>T (p.Ser499Ile)
c.1379G>T (p.Ser460Ile)
c.1361G>T (p.Ser454Ile)
3g.69965215T>ACA353560064MITFc.1482T>A (p.Ser494Arg)
c.1479T>A (p.Ser493Arg)
n.1704T>A
c.1455T>A (p.Ser485Arg)
c.*293T>A (n.*293T>A)
c.1548T>A (p.Ser516Arg)
c.1227T>A (p.Ser409Arg)
c.1527T>A (p.Ser509Arg)
c.1530T>A (p.Ser510Arg)
c.1209T>A (p.Ser403Arg)
c.1374T>A (p.Ser458Arg)
c.*874T>A (n.*874T>A)
c.1041T>A (p.Ser347Arg)
c.1500T>A (p.Ser500Arg)
c.1392T>A (p.Ser464Arg)
c.1545T>A (p.Ser515Arg)
c.1497T>A (p.Ser499Arg)
c.1380T>A (p.Ser460Arg)
c.1362T>A (p.Ser454Arg)
3g.69965215T>CCA434305540MITFc.1482T>C (p.Ser494=)
c.1479T>C (p.Ser493=)
n.1704T>C
c.1455T>C (p.Ser485=)
c.*293T>C (n.*293T>C)
c.1548T>C (p.Ser516=)
c.1227T>C (p.Ser409=)
c.1527T>C (p.Ser509=)
c.1530T>C (p.Ser510=)
c.1209T>C (p.Ser403=)
c.1374T>C (p.Ser458=)
c.*874T>C (n.*874T>C)
c.1041T>C (p.Ser347=)
c.1500T>C (p.Ser500=)
c.1392T>C (p.Ser464=)
c.1545T>C (p.Ser515=)
c.1497T>C (p.Ser499=)
c.1380T>C (p.Ser460=)
c.1362T>C (p.Ser454=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.69965215T>GCA353560065MITFc.1482T>G (p.Ser494Arg)
c.1479T>G (p.Ser493Arg)
n.1704T>G
c.1455T>G (p.Ser485Arg)
c.*293T>G (n.*293T>G)
c.1548T>G (p.Ser516Arg)
c.1227T>G (p.Ser409Arg)
c.1527T>G (p.Ser509Arg)
c.1530T>G (p.Ser510Arg)
c.1209T>G (p.Ser403Arg)
c.1374T>G (p.Ser458Arg)
c.*874T>G (n.*874T>G)
c.1041T>G (p.Ser347Arg)
c.1500T>G (p.Ser500Arg)
c.1392T>G (p.Ser464Arg)
c.1545T>G (p.Ser515Arg)
c.1497T>G (p.Ser499Arg)
c.1380T>G (p.Ser460Arg)
c.1362T>G (p.Ser454Arg)
3g.69965215T=CA1373414550MITFc.1482T= (p.Ser494=)
c.1479T= (p.Ser493=)
n.1704T=
c.1455T= (p.Ser485=)
c.*293T= (n.*293T=)
c.1548T= (p.Ser516=)
c.1227T= (p.Ser409=)
c.1527T= (p.Ser509=)
c.1530T= (p.Ser510=)
c.1209T= (p.Ser403=)
c.1374T= (p.Ser458=)
c.*874T= (n.*874T=)
c.1041T= (p.Ser347=)
c.1500T= (p.Ser500=)
c.1392T= (p.Ser464=)
c.1545T= (p.Ser515=)
c.1497T= (p.Ser499=)
c.1380T= (p.Ser460=)
c.1362T= (p.Ser454=)
3g.69965216A>CCA353560066MITFc.1483A>C (p.Met495Leu)
c.1480A>C (p.Met494Leu)
n.1705A>C
c.1456A>C (p.Met486Leu)
c.*294A>C (n.*294A>C)
c.1549A>C (p.Met517Leu)
c.1228A>C (p.Met410Leu)
c.1528A>C (p.Met510Leu)
c.1531A>C (p.Met511Leu)
c.1210A>C (p.Met404Leu)
c.1375A>C (p.Met459Leu)
c.*875A>C (n.*875A>C)
c.1042A>C (p.Met348Leu)
c.1501A>C (p.Met501Leu)
c.1393A>C (p.Met465Leu)
c.1546A>C (p.Met516Leu)
c.1498A>C (p.Met500Leu)
c.1381A>C (p.Met461Leu)
c.1363A>C (p.Met455Leu)
3g.69965216A>GCA353560067MITFc.1483A>G (p.Met495Val)
c.1480A>G (p.Met494Val)
n.1705A>G
c.1456A>G (p.Met486Val)
c.*294A>G (n.*294A>G)
c.1549A>G (p.Met517Val)
c.1228A>G (p.Met410Val)
c.1528A>G (p.Met510Val)
c.1531A>G (p.Met511Val)
c.1210A>G (p.Met404Val)
c.1375A>G (p.Met459Val)
c.*875A>G (n.*875A>G)
c.1042A>G (p.Met348Val)
c.1501A>G (p.Met501Val)
c.1393A>G (p.Met465Val)
c.1546A>G (p.Met516Val)
c.1498A>G (p.Met500Val)
c.1381A>G (p.Met461Val)
c.1363A>G (p.Met455Val)
 gnomAD v4
3g.69965216A>TCA353560068MITFc.1483A>T (p.Met495Leu)
c.1480A>T (p.Met494Leu)
n.1705A>T
c.1456A>T (p.Met486Leu)
c.*294A>T (n.*294A>T)
c.1549A>T (p.Met517Leu)
c.1228A>T (p.Met410Leu)
c.1528A>T (p.Met510Leu)
c.1531A>T (p.Met511Leu)
c.1210A>T (p.Met404Leu)
c.1375A>T (p.Met459Leu)
c.*875A>T (n.*875A>T)
c.1042A>T (p.Met348Leu)
c.1501A>T (p.Met501Leu)
c.1393A>T (p.Met465Leu)
c.1546A>T (p.Met516Leu)
c.1498A>T (p.Met500Leu)
c.1381A>T (p.Met461Leu)
c.1363A>T (p.Met455Leu)
3g.69965217T>ACA353560069MITFc.1484T>A (p.Met495Lys)
c.1481T>A (p.Met494Lys)
n.1706T>A
c.1457T>A (p.Met486Lys)
c.*295T>A (n.*295T>A)
c.1550T>A (p.Met517Lys)
c.1229T>A (p.Met410Lys)
c.1529T>A (p.Met510Lys)
c.1532T>A (p.Met511Lys)
c.1211T>A (p.Met404Lys)
c.1376T>A (p.Met459Lys)
c.*876T>A (n.*876T>A)
c.1043T>A (p.Met348Lys)
c.1502T>A (p.Met501Lys)
c.1394T>A (p.Met465Lys)
c.1547T>A (p.Met516Lys)
c.1499T>A (p.Met500Lys)
c.1382T>A (p.Met461Lys)
c.1364T>A (p.Met455Lys)
3g.69965217T>CCA353560070MITFc.1484T>C (p.Met495Thr)
c.1481T>C (p.Met494Thr)
n.1706T>C
c.1457T>C (p.Met486Thr)
c.*295T>C (n.*295T>C)
c.1550T>C (p.Met517Thr)
c.1229T>C (p.Met410Thr)
c.1529T>C (p.Met510Thr)
c.1532T>C (p.Met511Thr)
c.1211T>C (p.Met404Thr)
c.1376T>C (p.Met459Thr)
c.*876T>C (n.*876T>C)
c.1043T>C (p.Met348Thr)
c.1502T>C (p.Met501Thr)
c.1394T>C (p.Met465Thr)
c.1547T>C (p.Met516Thr)
c.1499T>C (p.Met500Thr)
c.1382T>C (p.Met461Thr)
c.1364T>C (p.Met455Thr)
3g.69965217T>GCA353560071MITFc.1484T>G (p.Met495Arg)
c.1481T>G (p.Met494Arg)
n.1706T>G
c.1457T>G (p.Met486Arg)
c.*295T>G (n.*295T>G)
c.1550T>G (p.Met517Arg)
c.1229T>G (p.Met410Arg)
c.1529T>G (p.Met510Arg)
c.1532T>G (p.Met511Arg)
c.1211T>G (p.Met404Arg)
c.1376T>G (p.Met459Arg)
c.*876T>G (n.*876T>G)
c.1043T>G (p.Met348Arg)
c.1502T>G (p.Met501Arg)
c.1394T>G (p.Met465Arg)
c.1547T>G (p.Met516Arg)
c.1499T>G (p.Met500Arg)
c.1382T>G (p.Met461Arg)
c.1364T>G (p.Met455Arg)
3g.69965218G>ACA353560074MITFc.1485G>A (p.Met495Ile)
c.1482G>A (p.Met494Ile)
n.1707G>A
c.1458G>A (p.Met486Ile)
c.*296G>A (n.*296G>A)
c.1551G>A (p.Met517Ile)
c.1230G>A (p.Met410Ile)
c.1530G>A (p.Met510Ile)
c.1533G>A (p.Met511Ile)
c.1212G>A (p.Met404Ile)
c.1377G>A (p.Met459Ile)
c.*877G>A (n.*877G>A)
c.1044G>A (p.Met348Ile)
c.1503G>A (p.Met501Ile)
c.1395G>A (p.Met465Ile)
c.1548G>A (p.Met516Ile)
c.1500G>A (p.Met500Ile)
c.1383G>A (p.Met461Ile)
c.1365G>A (p.Met455Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.69965218G>CCA353560073MITFc.1485G>C (p.Met495Ile)
c.1482G>C (p.Met494Ile)
n.1707G>C
c.1458G>C (p.Met486Ile)
c.*296G>C (n.*296G>C)
c.1551G>C (p.Met517Ile)
c.1230G>C (p.Met410Ile)
c.1530G>C (p.Met510Ile)
c.1533G>C (p.Met511Ile)
c.1212G>C (p.Met404Ile)
c.1377G>C (p.Met459Ile)
c.*877G>C (n.*877G>C)
c.1044G>C (p.Met348Ile)
c.1503G>C (p.Met501Ile)
c.1395G>C (p.Met465Ile)
c.1548G>C (p.Met516Ile)
c.1500G>C (p.Met500Ile)
c.1383G>C (p.Met461Ile)
c.1365G>C (p.Met455Ile)
3g.69965218G=CA1373414553MITFc.1485G= (p.Met495=)
c.1482G= (p.Met494=)
n.1707G=
c.1458G= (p.Met486=)
c.*296G= (n.*296G=)
c.1551G= (p.Met517=)
c.1230G= (p.Met410=)
c.1530G= (p.Met510=)
c.1533G= (p.Met511=)
c.1212G= (p.Met404=)
c.1377G= (p.Met459=)
c.*877G= (n.*877G=)
c.1044G= (p.Met348=)
c.1503G= (p.Met501=)
c.1395G= (p.Met465=)
c.1548G= (p.Met516=)
c.1500G= (p.Met500=)
c.1383G= (p.Met461=)
c.1365G= (p.Met455=)
3g.69965218G>TCA353560072MITFc.1485G>T (p.Met495Ile)
c.1482G>T (p.Met494Ile)
n.1707G>T
c.1458G>T (p.Met486Ile)
c.*296G>T (n.*296G>T)
c.1551G>T (p.Met517Ile)
c.1230G>T (p.Met410Ile)
c.1530G>T (p.Met510Ile)
c.1533G>T (p.Met511Ile)
c.1212G>T (p.Met404Ile)
c.1377G>T (p.Met459Ile)
c.*877G>T (n.*877G>T)
c.1044G>T (p.Met348Ile)
c.1503G>T (p.Met501Ile)
c.1395G>T (p.Met465Ile)
c.1548G>T (p.Met516Ile)
c.1500G>T (p.Met500Ile)
c.1383G>T (p.Met461Ile)
c.1365G>T (p.Met455Ile)
3g.69965219A>CCA353560075MITFc.1486A>C (p.Ser496Arg)
c.1483A>C (p.Ser495Arg)
n.1708A>C
c.1459A>C (p.Ser487Arg)
c.*297A>C (n.*297A>C)
c.1552A>C (p.Ser518Arg)
c.1231A>C (p.Ser411Arg)
c.1531A>C (p.Ser511Arg)
c.1534A>C (p.Ser512Arg)
c.1213A>C (p.Ser405Arg)
c.1378A>C (p.Ser460Arg)
c.*878A>C (n.*878A>C)
c.1045A>C (p.Ser349Arg)
c.1504A>C (p.Ser502Arg)
c.1396A>C (p.Ser466Arg)
c.1549A>C (p.Ser517Arg)
c.1501A>C (p.Ser501Arg)
c.1384A>C (p.Ser462Arg)
c.1366A>C (p.Ser456Arg)
3g.69965219A>GCA353560076MITFc.1486A>G (p.Ser496Gly)
c.1483A>G (p.Ser495Gly)
n.1708A>G
c.1459A>G (p.Ser487Gly)
c.*297A>G (n.*297A>G)
c.1552A>G (p.Ser518Gly)
c.1231A>G (p.Ser411Gly)
c.1531A>G (p.Ser511Gly)
c.1534A>G (p.Ser512Gly)
c.1213A>G (p.Ser405Gly)
c.1378A>G (p.Ser460Gly)
c.*878A>G (n.*878A>G)
c.1045A>G (p.Ser349Gly)
c.1504A>G (p.Ser502Gly)
c.1396A>G (p.Ser466Gly)
c.1549A>G (p.Ser517Gly)
c.1501A>G (p.Ser501Gly)
c.1384A>G (p.Ser462Gly)
c.1366A>G (p.Ser456Gly)
3g.69965219A>TCA353560077MITFc.1486A>T (p.Ser496Cys)
c.1483A>T (p.Ser495Cys)
n.1708A>T
c.1459A>T (p.Ser487Cys)
c.*297A>T (n.*297A>T)
c.1552A>T (p.Ser518Cys)
c.1231A>T (p.Ser411Cys)
c.1531A>T (p.Ser511Cys)
c.1534A>T (p.Ser512Cys)
c.1213A>T (p.Ser405Cys)
c.1378A>T (p.Ser460Cys)
c.*878A>T (n.*878A>T)
c.1045A>T (p.Ser349Cys)
c.1504A>T (p.Ser502Cys)
c.1396A>T (p.Ser466Cys)
c.1549A>T (p.Ser517Cys)
c.1501A>T (p.Ser501Cys)
c.1384A>T (p.Ser462Cys)
c.1366A>T (p.Ser456Cys)
3g.69965220G>ACA77003533MITFc.1487G>A (p.Ser496Asn)
c.1484G>A (p.Ser495Asn)
n.1709G>A
c.1460G>A (p.Ser487Asn)
c.*298G>A (n.*298G>A)
c.1553G>A (p.Ser518Asn)
c.1232G>A (p.Ser411Asn)
c.1532G>A (p.Ser511Asn)
c.1535G>A (p.Ser512Asn)
c.1214G>A (p.Ser405Asn)
c.1379G>A (p.Ser460Asn)
c.*879G>A (n.*879G>A)
c.1046G>A (p.Ser349Asn)
c.1505G>A (p.Ser502Asn)
c.1397G>A (p.Ser466Asn)
c.1550G>A (p.Ser517Asn)
c.1502G>A (p.Ser501Asn)
c.1385G>A (p.Ser462Asn)
c.1367G>A (p.Ser456Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.69965220G>CCA353560078MITFc.1487G>C (p.Ser496Thr)
c.1484G>C (p.Ser495Thr)
n.1709G>C
c.1460G>C (p.Ser487Thr)
c.*298G>C (n.*298G>C)
c.1553G>C (p.Ser518Thr)
c.1232G>C (p.Ser411Thr)
c.1532G>C (p.Ser511Thr)
c.1535G>C (p.Ser512Thr)
c.1214G>C (p.Ser405Thr)
c.1379G>C (p.Ser460Thr)
c.*879G>C (n.*879G>C)
c.1046G>C (p.Ser349Thr)
c.1505G>C (p.Ser502Thr)
c.1397G>C (p.Ser466Thr)
c.1550G>C (p.Ser517Thr)
c.1502G>C (p.Ser501Thr)
c.1385G>C (p.Ser462Thr)
c.1367G>C (p.Ser456Thr)
3g.69965220G=CA1373414557MITFc.1487G= (p.Ser496=)
c.1484G= (p.Ser495=)
n.1709G=
c.1460G= (p.Ser487=)
c.*298G= (n.*298G=)
c.1553G= (p.Ser518=)
c.1232G= (p.Ser411=)
c.1532G= (p.Ser511=)
c.1535G= (p.Ser512=)
c.1214G= (p.Ser405=)
c.1379G= (p.Ser460=)
c.*879G= (n.*879G=)
c.1046G= (p.Ser349=)
c.1505G= (p.Ser502=)
c.1397G= (p.Ser466=)
c.1550G= (p.Ser517=)
c.1502G= (p.Ser501=)
c.1385G= (p.Ser462=)
c.1367G= (p.Ser456=)
3g.69965220G>TCA353560079MITFc.1487G>T (p.Ser496Ile)
c.1484G>T (p.Ser495Ile)
n.1709G>T
c.1460G>T (p.Ser487Ile)
c.*298G>T (n.*298G>T)
c.1553G>T (p.Ser518Ile)
c.1232G>T (p.Ser411Ile)
c.1532G>T (p.Ser511Ile)
c.1535G>T (p.Ser512Ile)
c.1214G>T (p.Ser405Ile)
c.1379G>T (p.Ser460Ile)
c.*879G>T (n.*879G>T)
c.1046G>T (p.Ser349Ile)
c.1505G>T (p.Ser502Ile)
c.1397G>T (p.Ser466Ile)
c.1550G>T (p.Ser517Ile)
c.1502G>T (p.Ser501Ile)
c.1385G>T (p.Ser462Ile)
c.1367G>T (p.Ser456Ile)
3g.69965221C>ACA353560081MITFc.1488C>A (p.Ser496Arg)
c.1485C>A (p.Ser495Arg)
n.1710C>A
c.1461C>A (p.Ser487Arg)
c.*299C>A (n.*299C>A)
c.1554C>A (p.Ser518Arg)
c.1233C>A (p.Ser411Arg)
c.1533C>A (p.Ser511Arg)
c.1536C>A (p.Ser512Arg)
c.1215C>A (p.Ser405Arg)
c.1380C>A (p.Ser460Arg)
c.*880C>A (n.*880C>A)
c.1047C>A (p.Ser349Arg)
c.1506C>A (p.Ser502Arg)
c.1398C>A (p.Ser466Arg)
c.1551C>A (p.Ser517Arg)
c.1503C>A (p.Ser501Arg)
c.1386C>A (p.Ser462Arg)
c.1368C>A (p.Ser456Arg)
3g.69965221C>GCA353560080MITFc.1488C>G (p.Ser496Arg)
c.1485C>G (p.Ser495Arg)
n.1710C>G
c.1461C>G (p.Ser487Arg)
c.*299C>G (n.*299C>G)
c.1554C>G (p.Ser518Arg)
c.1233C>G (p.Ser411Arg)
c.1533C>G (p.Ser511Arg)
c.1536C>G (p.Ser512Arg)
c.1215C>G (p.Ser405Arg)
c.1380C>G (p.Ser460Arg)
c.*880C>G (n.*880C>G)
c.1047C>G (p.Ser349Arg)
c.1506C>G (p.Ser502Arg)
c.1398C>G (p.Ser466Arg)
c.1551C>G (p.Ser517Arg)
c.1503C>G (p.Ser501Arg)
c.1386C>G (p.Ser462Arg)
c.1368C>G (p.Ser456Arg)
3g.69965221C>TCA434305541MITFc.1488C>T (p.Ser496=)
c.1485C>T (p.Ser495=)
n.1710C>T
c.1461C>T (p.Ser487=)
c.*299C>T (n.*299C>T)
c.1554C>T (p.Ser518=)
c.1233C>T (p.Ser411=)
c.1533C>T (p.Ser511=)
c.1536C>T (p.Ser512=)
c.1215C>T (p.Ser405=)
c.1380C>T (p.Ser460=)
c.*880C>T (n.*880C>T)
c.1047C>T (p.Ser349=)
c.1506C>T (p.Ser502=)
c.1398C>T (p.Ser466=)
c.1551C>T (p.Ser517=)
c.1503C>T (p.Ser501=)
c.1386C>T (p.Ser462=)
c.1368C>T (p.Ser456=)
 dbSNP

Number of alleles fetched