Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.69965120C>A | CA353559878 | MITF | c.1387C>A (p.Leu463Met) c.1384C>A (p.Leu462Met) n.1609C>A c.1360C>A (p.Leu454Met) c.*198C>A (n.*198C>A) c.1453C>A (p.Leu485Met) c.1132C>A (p.Leu378Met) c.1432C>A (p.Leu478Met) c.1435C>A (p.Leu479Met) c.1114C>A (p.Leu372Met) c.1279C>A (p.Leu427Met) c.*779C>A (n.*779C>A) c.946C>A (p.Leu316Met) c.1405C>A (p.Leu469Met) c.1297C>A (p.Leu433Met) c.1450C>A (p.Leu484Met) c.1402C>A (p.Leu468Met) c.1285C>A (p.Leu429Met) c.1267C>A (p.Leu423Met) | dbSNP |
3 | g.69965120C>G | CA353559879 | MITF | c.1387C>G (p.Leu463Val) c.1384C>G (p.Leu462Val) n.1609C>G c.1360C>G (p.Leu454Val) c.*198C>G (n.*198C>G) c.1453C>G (p.Leu485Val) c.1132C>G (p.Leu378Val) c.1432C>G (p.Leu478Val) c.1435C>G (p.Leu479Val) c.1114C>G (p.Leu372Val) c.1279C>G (p.Leu427Val) c.*779C>G (n.*779C>G) c.946C>G (p.Leu316Val) c.1405C>G (p.Leu469Val) c.1297C>G (p.Leu433Val) c.1450C>G (p.Leu484Val) c.1402C>G (p.Leu468Val) c.1285C>G (p.Leu429Val) c.1267C>G (p.Leu423Val) | |
3 | g.69965120C>T | CA434433805 | MITF | c.1387C>T (p.Leu463=) c.1384C>T (p.Leu462=) n.1609C>T c.1360C>T (p.Leu454=) c.*198C>T (n.*198C>T) c.1453C>T (p.Leu485=) c.1132C>T (p.Leu378=) c.1432C>T (p.Leu478=) c.1435C>T (p.Leu479=) c.1114C>T (p.Leu372=) c.1279C>T (p.Leu427=) c.*779C>T (n.*779C>T) c.946C>T (p.Leu316=) c.1405C>T (p.Leu469=) c.1297C>T (p.Leu433=) c.1450C>T (p.Leu484=) c.1402C>T (p.Leu468=) c.1285C>T (p.Leu429=) c.1267C>T (p.Leu423=) | |
3 | g.69965121T>A | CA353559880 | MITF | c.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) | |
3 | g.69965121T>C | CA353559881 | MITF | c.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 |
3 | g.69965121T>G | CA353559882 | MITF | c.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) | |
3 | g.69965121T= | CA1373414368 | MITF | c.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=) | |
3 | g.69965122G>A | CA434433808 | MITF | c.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 |
3 | g.69965122G>C | CA434433807 | MITF | c.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=) | |
3 | g.69965122G>T | CA434433806 | MITF | c.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=) | |
3 | g.69965123A= | CA1373414371 | MITF | c.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=) | |
3 | g.69965123A>C | CA353559883 | MITF | c.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) | |
3 | g.69965123A>G | CA2490671 | MITF | c.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 |
3 | g.69965123A>T | CA353559884 | MITF | c.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) | |
3 | g.69965124T>A | CA353559885 | MITF | c.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) | |
3 | g.69965124T>C | CA353559887 | MITF | c.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) | |
3 | g.69965124T>G | CA353559886 | MITF | c.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) | |
3 | g.69965125G>A | CA353559888 | MITF | c.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 |
3 | g.69965125G>C | CA353559890 | MITF | c.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) | |
3 | g.69965125G= | CA1373414374 | MITF | c.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=) | |
3 | g.69965125G>T | CA353559889 | MITF | c.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) | |
3 | g.69965126G>A | CA353559891 | MITF | c.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 |
3 | g.69965126G>C | CA353559893 | MITF | c.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 |
3 | g.69965126G>T | CA353559892 | MITF | c.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) | |
3 | g.69965127A= | CA1373414377 | MITF | c.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=) | |
3 | g.69965127A>C | CA353559894 | MITF | c.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 |
3 | g.69965127A>G | CA353559895 | MITF | c.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) | |
3 | g.69965127A>T | CA353559896 | MITF | c.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 |
3 | g.69965128C>A | CA353559897 | MITF | c.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) | |
3 | g.69965128C= | CA1373414379 | MITF | c.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=) | |
3 | g.69965128C>G | CA353559898 | MITF | c.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) | |
3 | g.69965128C>T | CA2490672 | MITF | c.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 |
3 | g.69965129G>A | CA2490673 | MITF | c.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 |
3 | g.69965129G>C | CA353559899 | MITF | c.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 |
3 | g.69965129G= | CA1373414382 | MITF | c.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=) | |
3 | g.69965129G>T | CA353559900 | MITF | c.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) | |
3 | g.69965130A= | CA1373414388 | MITF | c.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=) | |
3 | g.69965130A>C | CA353559901 | MITF | c.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) | |
3 | g.69965130A>G | CA353559902 | MITF | c.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 |
3 | g.69965130A>T | CA353559903 | MITF | c.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) | |
3 | g.69965131C>A | CA2490674 | MITF | c.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 |
3 | g.69965131C= | CA1373414391 | MITF | c.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=) | |
3 | g.69965131C>G | CA353559904 | MITF | c.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) | |
3 | g.69965131C>T | CA2490675 | MITF | c.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 |
3 | g.69965132A= | CA1373414396 | MITF | c.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=) | |
3 | g.69965132A>C | CA353559905 | MITF | c.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) | |
3 | g.69965132A>G | CA353559906 | MITF | c.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) | |
3 | g.69965132A>T | CA353559907 | MITF | c.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 |
3 | g.69965133C>A | CA353559908 | MITF | c.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) | |
3 | g.69965133C= | CA1373414400 | MITF | c.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=) | |
3 | g.69965133C>G | CA353559909 | MITF | c.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 |
3 | g.69965133C>T | CA2490676 | MITF | c.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 |
3 | g.69965134C>A | CA434433809 | MITF | c.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 |
3 | g.69965134C>G | CA434433810 | MITF | c.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 |
3 | g.69965134C>T | CA434433811 | MITF | c.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 |
3 | g.69965135C>A | CA353559910 | MITF | c.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) | |
3 | g.69965135C= | CA1373414403 | MITF | c.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=) | |
3 | g.69965135C>G | CA353559911 | MITF | c.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 |
3 | g.69965135C>T | CA353559912 | MITF | c.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 |
3 | g.69965136T>A | CA353559914 | MITF | c.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) | |
3 | g.69965136T>C | CA353559915 | MITF | c.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) | |
3 | g.69965136T>G | CA353559913 | MITF | c.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) | |
3 | g.69965137T>A | CA434433814 | MITF | c.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=) | |
3 | g.69965137T>C | CA434433812 | MITF | c.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 |
3 | g.69965137T>G | CA434433813 | MITF | c.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=) | |
3 | g.69965138T>A | CA353559916 | MITF | c.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) | |
3 | g.69965138T>C | CA353559917 | MITF | c.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) | |
3 | g.69965138T>G | CA353559918 | MITF | c.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) | |
3 | g.69965139C>A | CA353559919 | MITF | c.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 |
3 | g.69965139C>G | CA353559920 | MITF | c.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) | |
3 | g.69965139C>T | CA353559921 | MITF | c.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 |
3 | g.69965140T>A | CA434433815 | MITF | c.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=) | |
3 | g.69965140T>C | CA2490677 | MITF | c.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 |
3 | g.69965140T>G | CA434433816 | MITF | c.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=) | |
3 | g.69965140T= | CA1373414406 | MITF | c.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=) | |
3 | g.69965141C>A | CA353559922 | MITF | c.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) | |
3 | g.69965141C= | CA1373414408 | MITF | c.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=) | |
3 | g.69965141C>G | CA353559923 | MITF | c.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 |
3 | g.69965141C>T | CA2490678 | MITF | c.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 |
3 | g.69965142C>A | CA353559924 | MITF | c.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) | |
3 | g.69965142C>G | CA353559925 | MITF | c.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) | |
3 | g.69965142C>T | CA353559926 | MITF | c.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) | |
3 | g.69965143C>A | CA434433818 | MITF | c.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 |
3 | g.69965143C= | CA1373414412 | MITF | c.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=) | |
3 | g.69965143C>G | CA434433817 | MITF | c.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=) | |
3 | g.69965143C>T | CA2490679 | MITF | c.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 |
3 | g.69965144G>A | CA2490680 | MITF | c.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 |
3 | g.69965144G>C | CA77003528 | MITF | c.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 |
3 | g.69965144G= | CA1373414416 | MITF | c.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=) | |
3 | g.69965144G>T | CA353559927 | MITF | c.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 |
3 | g.69965145T>A | CA2490681 | MITF | c.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 |
3 | g.69965145T>C | CA353559928 | MITF | c.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) | |
3 | g.69965145T>G | CA353559929 | MITF | c.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) | |
3 | g.69965145T= | CA1373414420 | MITF | c.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=) | |
3 | g.69965146C>A | CA434433819 | MITF | c.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=) | |
3 | g.69965146C= | CA1373414423 | MITF | c.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=) | |
3 | g.69965146C>G | CA434433820 | MITF | c.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 |
3 | g.69965146C>T | CA2490682 | MITF | c.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 |
3 | g.69965147G>A | CA2490683 | MITF | c.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 |
3 | g.69965147G>C | CA353559930 | MITF | c.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 |
3 | g.69965147G= | CA1373414425 | MITF | c.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=) | |
3 | g.69965147G>T | CA353559931 | MITF | c.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) | |
3 | g.69965148G>A | CA353559932 | MITF | c.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 |
3 | g.69965148G>C | CA353559933 | MITF | c.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) | |
3 | g.69965148G= | CA1373414428 | MITF | c.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=) | |
3 | g.69965148G>T | CA353559934 | MITF | c.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) | |
3 | g.69965149T>A | CA434433821 | MITF | c.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=) | |
3 | g.69965149T>C | CA434433822 | MITF | c.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 |
3 | g.69965149T>G | CA434433823 | MITF | c.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=) | |
3 | g.69965149T= | CA1373414431 | MITF | c.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=) | |
3 | g.69965150G>A | CA2490684 | MITF | c.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 |
3 | g.69965150G>C | CA353559936 | MITF | c.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) | |
3 | g.69965150G= | CA1373414433 | MITF | c.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=) | |
3 | g.69965150G>T | CA353559935 | MITF | c.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) | |
3 | g.69965151T>A | CA353559937 | MITF | c.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) | |
3 | g.69965151T>C | CA353559939 | MITF | c.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) | |
3 | g.69965151T>G | CA353559938 | MITF | c.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) | |
3 | g.69965152C>A | CA434433825 | MITF | c.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=) | |
3 | g.69965152C>G | CA434433826 | MITF | c.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=) | |
3 | g.69965152C>T | CA434433824 | MITF | c.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 |
3 | g.69965153A>C | CA353559940 | MITF | c.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) | |
3 | g.69965153A>G | CA353559941 | MITF | c.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 |
3 | g.69965153A>T | CA353559942 | MITF | c.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) | |
3 | g.69965154C>A | CA353559943 | MITF | c.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 |
3 | g.69965154C= | CA1373414435 | MITF | c.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=) | |
3 | g.69965154C>G | CA353559944 | MITF | c.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) | |
3 | g.69965154C>T | CA2490685 | MITF | c.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 |
3 | g.69965155T>A | CA434433827 | MITF | c.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=) | |
3 | g.69965155T>C | CA434433828 | MITF | c.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=) | |
3 | g.69965155T>G | CA434433829 | MITF | c.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=) | |
3 | g.69965156G>A | CA353559945 | MITF | c.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) | |
3 | g.69965156G>C | CA353559946 | MITF | c.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) | |
3 | g.69965156G>T | CA353559947 | MITF | c.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) | |
3 | g.69965157A= | CA1373414439 | MITF | c.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=) | |
3 | g.69965157A>C | CA353559948 | MITF | c.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) | |
3 | g.69965157A>G | CA353559949 | MITF | c.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 |
3 | g.69965157A>T | CA353559950 | MITF | c.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 |
3 | g.69965158T>A | CA353559951 | MITF | c.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 |
3 | g.69965158T>C | CA434433830 | MITF | c.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 |
3 | g.69965158T>G | CA353559952 | MITF | c.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) | |
3 | g.69965158T= | CA1373414441 | MITF | c.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=) | |
3 | g.69965159C>A | CA353559953 | MITF | c.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) | |
3 | g.69965159C= | CA1373414444 | MITF | c.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=) | |
3 | g.69965159C>G | CA353559954 | MITF | c.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 |
3 | g.69965159C>T | CA353559955 | MITF | c.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 |
3 | g.69965160del | CA434433831 | MITF | c.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 |
3 | g.69965160C>A | CA353559956 | MITF | c.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) | |
3 | g.69965160C= | CA1373414447 | MITF | c.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=) | |
3 | g.69965160C>G | CA353559957 | MITF | c.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) | |
3 | g.69965160C>T | CA353559958 | MITF | c.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 |
3 | g.69965161A= | CA1373414451 | MITF | c.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=) | |
3 | g.69965161A>C | CA2490686 | MITF | c.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 |
3 | g.69965161A>G | CA434433832 | MITF | c.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 |
3 | g.69965161A>T | CA434433833 | MITF | c.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=) | |
3 | g.69965162C>A | CA353559959 | MITF | c.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 |
3 | g.69965162C>G | CA353559960 | MITF | c.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) | |
3 | g.69965162C>T | CA353559961 | MITF | c.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 |
3 | g.69965163T>A | CA353559963 | MITF | c.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) | |
3 | g.69965163T>C | CA353559964 | MITF | c.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) | |
3 | g.69965163T>G | CA353559962 | MITF | c.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) | |
3 | g.69965164C>A | CA434433834 | MITF | c.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=) | |
3 | g.69965164C= | CA1373414452 | MITF | c.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=) | |
3 | g.69965164C>G | CA2490687 | MITF | c.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 |
3 | g.69965164C>T | CA434433835 | MITF | c.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 |
3 | g.69965165C>A | CA353559965 | MITF | c.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 |
3 | g.69965165C>G | CA353559966 | MITF | c.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) | |
3 | g.69965165C>T | CA353559967 | MITF | c.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) | |
3 | g.69965166T>A | CA353559968 | MITF | c.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) | |
3 | g.69965166T>C | CA353559969 | MITF | c.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) | |
3 | g.69965166T>G | CA353559970 | MITF | c.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) | |
3 | g.69965167T>A | CA434433838 | MITF | c.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=) | |
3 | g.69965167T>C | CA434433837 | MITF | c.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=) | |
3 | g.69965167T>G | CA434433836 | MITF | c.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 |
3 | g.69965167T= | CA1373414455 | MITF | c.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=) | |
3 | g.69965168T>A | CA353559971 | MITF | c.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) | |
3 | g.69965168T>C | CA353559972 | MITF | c.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) | |
3 | g.69965168T>G | CA353559973 | MITF | c.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) | |
3 | g.69965169C>A | CA353559974 | MITF | c.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) | |
3 | g.69965169C= | CA1373414456 | MITF | c.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=) | |
3 | g.69965169C>G | CA353559975 | MITF | c.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) | |
3 | g.69965169C>T | CA353559976 | MITF | c.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 |
3 | g.69965170C>A | CA434433839 | MITF | c.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=) | |
3 | g.69965170C>G | CA434433840 | MITF | c.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=) | |
3 | g.69965170C>T | CA434433841 | MITF | c.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 |
3 | g.69965171T>A | CA353559979 | MITF | c.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 |
3 | g.69965171T>C | CA353559978 | MITF | c.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) | |
3 | g.69965171T>G | CA353559977 | MITF | c.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) | |
3 | g.69965171T= | CA1373414459 | MITF | c.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=) | |
3 | g.69965172C>A | CA353559980 | MITF | c.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 |
3 | g.69965172C>G | CA353559981 | MITF | c.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 |
3 | g.69965172C>T | CA353559982 | MITF | c.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 |
3 | g.69965173A= | CA1373414461 | MITF | c.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=) | |
3 | g.69965173A>C | CA434433842 | MITF | c.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=) | |
3 | g.69965173A>G | CA434433843 | MITF | c.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 |
3 | g.69965173A>T | CA434433844 | MITF | c.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 |
3 | g.69965174G>A | CA77003529 | MITF | c.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 |
3 | g.69965174G>C | CA353559983 | MITF | c.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 |
3 | g.69965174G= | CA1373414463 | MITF | c.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=) | |
3 | g.69965174G>T | CA353559984 | MITF | c.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) | |
3 | g.69965175T>A | CA353559985 | MITF | c.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) | |
3 | g.69965175T>C | CA353559986 | MITF | c.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 |
3 | g.69965175T>G | CA353559987 | MITF | c.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) | |
3 | g.69965176G>A | CA434433845 | MITF | c.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 |
3 | g.69965176G>C | CA434433846 | MITF | c.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=) | |
3 | g.69965176G>T | CA434433847 | MITF | c.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=) | |
3 | g.69965177T>A | CA353559988 | MITF | c.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) | |
3 | g.69965177T>C | CA353559989 | MITF | c.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) | |
3 | g.69965177T>G | CA353559990 | MITF | c.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) | |
3 | g.69965178C>A | CA353559993 | MITF | c.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) | |
3 | g.69965178C>G | CA353559992 | MITF | c.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 |
3 | g.69965178C>T | CA353559991 | MITF | c.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 |
3 | g.69965182del | CA645533384 | MITF | c.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 |
3 | g.69965179C>A | CA434433848 | MITF | c.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 |
3 | g.69965179C= | CA1373414466 | MITF | c.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=) | |
3 | g.69965179C>G | CA434433849 | MITF | c.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 |
3 | g.69965179C>T | CA434433850 | MITF | c.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 |
3 | g.69965180C>A | CA353559994 | MITF | c.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) | |
3 | g.69965180C= | CA1373414471 | MITF | c.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=) | |
3 | g.69965180C>G | CA353559995 | MITF | c.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) | |
3 | g.69965180C>T | CA16040406 | MITF | c.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 |
3 | g.69965181C>A | CA353559996 | MITF | c.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) | |
3 | g.69965181C>G | CA353559998 | MITF | c.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) | |
3 | g.69965181C>T | CA353559997 | MITF | c.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 |
3 | g.69965182C>A | CA2490689 | MITF | c.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 |
3 | g.69965182C= | CA1373414473 | MITF | c.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=) | |
3 | g.69965182C>G | CA434433851 | MITF | c.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=) | |
3 | g.69965182C>T | CA2490688 | MITF | c.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 |
3 | g.69965183G>A | CA2490690 | MITF | c.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 |
3 | g.69965183G>C | CA2490691 | MITF | c.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 |
3 | g.69965183G= | CA1373414481 | MITF | c.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=) | |
3 | g.69965183G>T | CA353559999 | MITF | c.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 |
3 | g.69965184G>A | CA2490692 | MITF | c.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 |
3 | g.69965184G>C | CA353560000 | MITF | c.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) | |
3 | g.69965184G= | CA1373414486 | MITF | c.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=) | |
3 | g.69965184G>T | CA353560001 | MITF | c.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) | |
3 | g.69965185A>C | CA434433852 | MITF | c.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=) | |
3 | g.69965185A>G | CA434433854 | MITF | c.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=) | |
3 | g.69965185A>T | CA434433853 | MITF | c.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=) | |
3 | g.69965186G>A | CA353560002 | MITF | c.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 |
3 | g.69965186G>C | CA353560003 | MITF | c.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) | |
3 | g.69965186G>T | CA353560004 | MITF | c.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) | |
3 | g.69965187C>A | CA353560007 | MITF | c.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 |
3 | g.69965187C= | CA1373414491 | MITF | c.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=) | |
3 | g.69965187C>G | CA353560006 | MITF | c.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) | |
3 | g.69965187C>T | CA353560005 | MITF | c.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) | |
3 | g.69965188T>A | CA434305523 | MITF | c.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=) | |
3 | g.69965188T>C | CA434305524 | MITF | c.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=) | |
3 | g.69965188T>G | CA434305525 | MITF | c.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 |
3 | g.69965188T= | CA1373414494 | MITF | c.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=) | |
3 | g.69965189T>A | CA353560008 | MITF | c.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) | |
3 | g.69965189T>C | CA353560009 | MITF | c.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) | |
3 | g.69965189T>G | CA353560010 | MITF | c.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) | |
3 | g.69965190C>A | CA353560011 | MITF | c.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) | |
3 | g.69965190C>G | CA353560012 | MITF | c.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) | |
3 | g.69965190C>T | CA353560013 | MITF | c.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) | |
3 | g.69965191C>A | CA434305526 | MITF | c.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 |
3 | g.69965191C>G | CA434305527 | MITF | c.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=) | |
3 | g.69965191C>T | CA434305528 | MITF | c.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=) | |
3 | g.69965192A= | CA1373414498 | MITF | c.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=) | |
3 | g.69965192A>C | CA353560014 | MITF | c.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) | |
3 | g.69965192A>G | CA353560015 | MITF | c.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 |
3 | g.69965192A>T | CA353560016 | MITF | c.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) | |
3 | g.69965193A>C | CA353560017 | MITF | c.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) | |
3 | g.69965193A>G | CA353560018 | MITF | c.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 |
3 | g.69965193A>T | CA353560019 | MITF | c.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) | |
3 | g.69965194A>C | CA353560020 | MITF | c.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) | |
3 | g.69965194A>G | CA434305529 | MITF | c.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=) | |
3 | g.69965194A>T | CA353560021 | MITF | c.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) | |
3 | g.69965195A>C | CA353560022 | MITF | c.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) | |
3 | g.69965195A>G | CA353560023 | MITF | c.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 |
3 | g.69965195A>T | CA353560024 | MITF | c.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) | |
3 | g.69965196C>A | CA353560025 | MITF | c.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) | |
3 | g.69965196C>G | CA353560026 | MITF | c.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 |
3 | g.69965196C>T | CA353560027 | MITF | c.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) | |
3 | g.69965197A>C | CA434305530 | MITF | c.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=) | |
3 | g.69965197A>G | CA434305531 | MITF | c.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=) | |
3 | g.69965197A>T | CA434305532 | MITF | c.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=) | |
3 | g.69965197_69965200delinsAAGC | CA1373414503 | MITF | c.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=) | |
3 | g.69965198A= | CA1373414509 | MITF | c.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=) | |
3 | g.69965198A>C | CA353560028 | MITF | c.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) | |
3 | g.69965198A>G | CA77003530 | MITF | c.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 |
3 | g.69965198A>T | CA353560029 | MITF | c.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) | |
3 | g.69965201_69965203del | CA915942981 | MITF | c.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 |
3 | g.69965199G>A | CA353560030 | MITF | c.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) | |
3 | g.69965199G>C | CA353560031 | MITF | c.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) | |
3 | g.69965199G>T | CA353560032 | MITF | c.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) | |
3 | g.69965200C>A | CA353560034 | MITF | c.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) | |
3 | g.69965200C>G | CA353560033 | MITF | c.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 |
3 | g.69965200C>T | CA434305533 | MITF | c.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 |
3 | g.69965201A>C | CA353560035 | MITF | c.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) | |
3 | g.69965201A>G | CA353560036 | MITF | c.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) | |
3 | g.69965201A>T | CA353560037 | MITF | c.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) | |
3 | g.69965202G>A | CA353560038 | MITF | c.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) | |
3 | g.69965202G>C | CA353560039 | MITF | c.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) | |
3 | g.69965202G>T | CA353560040 | MITF | c.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) | |
3 | g.69965203C>A | CA353560041 | MITF | c.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 |
3 | g.69965203C= | CA1373414515 | MITF | c.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=) | |
3 | g.69965203C>G | CA353560042 | MITF | c.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 |
3 | g.69965203C>T | CA434305534 | MITF | c.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 |
3 | g.69965204C>A | CA434305535 | MITF | c.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 |
3 | g.69965204C= | CA1373414523 | MITF | c.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=) | |
3 | g.69965204C>G | CA2490694 | MITF | c.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 |
3 | g.69965204C>T | CA2490693 | MITF | c.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 |
3 | g.69965205G>A | CA77003531 | MITF | c.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 |
3 | g.69965205G>C | CA353560043 | MITF | c.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) | |
3 | g.69965205G= | CA1373414530 | MITF | c.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=) | |
3 | g.69965205G>T | CA353560044 | MITF | c.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 |
3 | g.69965206G>A | CA434305536 | MITF | c.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=) | |
3 | g.69965206G>C | CA434305537 | MITF | c.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=) | |
3 | g.69965206G>T | CA434305538 | MITF | c.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=) | |
3 | g.69965207A>C | CA434305539 | MITF | c.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=) | |
3 | g.69965207A>G | CA353560046 | MITF | c.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) | |
3 | g.69965207A>T | CA353560045 | MITF | c.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) | |
3 | g.69965208G>A | CA353560047 | MITF | c.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 |
3 | g.69965208G>C | CA353560049 | MITF | c.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) | |
3 | g.69965208G>T | CA353560048 | MITF | c.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) | |
3 | g.69965209G>A | CA2490695 | MITF | c.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 |
3 | g.69965209G>C | CA353560050 | MITF | c.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 |
3 | g.69965209G= | CA1373414537 | MITF | c.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=) | |
3 | g.69965209G>T | CA353560051 | MITF | c.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) | |
3 | g.69965210A>C | CA353560052 | MITF | c.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) | |
3 | g.69965210A>G | CA353560053 | MITF | c.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) | |
3 | g.69965210A>T | CA353560054 | MITF | c.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) | |
3 | g.69965211G>A | CA353560055 | MITF | c.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 |
3 | g.69965211G>C | CA353560056 | MITF | c.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) | |
3 | g.69965211G>T | CA353560057 | MITF | c.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) | |
3 | g.69965212C>A | CA353560058 | MITF | c.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 |
3 | g.69965212C= | CA1373414545 | MITF | c.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=) | |
3 | g.69965212C>G | CA77003532 | MITF | c.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 |
3 | g.69965212C>T | CA2490696 | MITF | c.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 |
3 | g.69965213A>C | CA353560061 | MITF | c.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) | |
3 | g.69965213A>G | CA353560059 | MITF | c.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) | |
3 | g.69965213A>T | CA353560060 | MITF | c.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) | |
3 | g.69965214G>A | CA353560062 | MITF | c.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 |
3 | g.69965214G>C | CA2490697 | MITF | c.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 |
3 | g.69965214G= | CA1373414547 | MITF | c.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=) | |
3 | g.69965214G>T | CA353560063 | MITF | c.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) | |
3 | g.69965215T>A | CA353560064 | MITF | c.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) | |
3 | g.69965215T>C | CA434305540 | MITF | c.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 |
3 | g.69965215T>G | CA353560065 | MITF | c.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) | |
3 | g.69965215T= | CA1373414550 | MITF | c.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=) | |
3 | g.69965216A>C | CA353560066 | MITF | c.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) | |
3 | g.69965216A>G | CA353560067 | MITF | c.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 |
3 | g.69965216A>T | CA353560068 | MITF | c.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) | |
3 | g.69965217T>A | CA353560069 | MITF | c.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) | |
3 | g.69965217T>C | CA353560070 | MITF | c.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) | |
3 | g.69965217T>G | CA353560071 | MITF | c.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) | |
3 | g.69965218G>A | CA353560074 | MITF | c.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 |
3 | g.69965218G>C | CA353560073 | MITF | c.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) | |
3 | g.69965218G= | CA1373414553 | MITF | c.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=) | |
3 | g.69965218G>T | CA353560072 | MITF | c.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) | |
3 | g.69965219A>C | CA353560075 | MITF | c.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) | |
3 | g.69965219A>G | CA353560076 | MITF | c.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) | |
3 | g.69965219A>T | CA353560077 | MITF | c.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) | |
3 | g.69965220G>A | CA77003533 | MITF | c.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 |
3 | g.69965220G>C | CA353560078 | MITF | c.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) | |
3 | g.69965220G= | CA1373414557 | MITF | c.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=) | |
3 | g.69965220G>T | CA353560079 | MITF | c.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) |