Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.27983407C>A | CA391359451 | OCA2 | c.1441G>T (p.Ala481Ser) c.1369G>T (p.Ala457Ser) c.1465G>T (p.Ala489Ser) c.1393G>T (p.Ala465Ser) c.1327G>T (p.Ala443Ser) n.2826G>T c.1270G>T (p.Ala424Ser) n.1554G>T | |
15 | g.27983407C= | CA2166409981 | OCA2 | c.1441G= (p.Ala481=) c.1369G= (p.Ala457=) c.1465G= (p.Ala489=) c.1393G= (p.Ala465=) c.1327G= (p.Ala443=) n.2826G= c.1270G= (p.Ala424=) n.1554G= | |
15 | g.27983407C>G | CA391359453 | OCA2 | c.1441G>C (p.Ala481Pro) c.1369G>C (p.Ala457Pro) c.1465G>C (p.Ala489Pro) c.1393G>C (p.Ala465Pro) c.1327G>C (p.Ala443Pro) n.2826G>C c.1270G>C (p.Ala424Pro) n.1554G>C | |
15 | g.27983407C>T | CA251633 | OCA2 | c.1441G>A (p.Ala481Thr) c.1369G>A (p.Ala457Thr) c.1465G>A (p.Ala489Thr) c.1393G>A (p.Ala465Thr) c.1327G>A (p.Ala443Thr) n.2826G>A c.1270G>A (p.Ala424Thr) n.1554G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27983408A>C | CA488958683 | OCA2 | c.1440T>G (p.Ala480=) c.1368T>G (p.Ala456=) c.1464T>G (p.Ala488=) c.1392T>G (p.Ala464=) c.1326T>G (p.Ala442=) n.2825T>G c.1269T>G (p.Ala423=) n.1553T>G | |
15 | g.27983408A>G | CA488958684 | OCA2 | c.1440T>C (p.Ala480=) c.1368T>C (p.Ala456=) c.1464T>C (p.Ala488=) c.1392T>C (p.Ala464=) c.1326T>C (p.Ala442=) n.2825T>C c.1269T>C (p.Ala423=) n.1553T>C | |
15 | g.27983408A>T | CA488958685 | OCA2 | c.1440T>A (p.Ala480=) c.1368T>A (p.Ala456=) c.1464T>A (p.Ala488=) c.1392T>A (p.Ala464=) c.1326T>A (p.Ala442=) n.2825T>A c.1269T>A (p.Ala423=) n.1553T>A | |
15 | g.27983409G>A | CA391359456 | OCA2 | c.1439C>T (p.Ala480Val) c.1367C>T (p.Ala456Val) c.1463C>T (p.Ala488Val) c.1391C>T (p.Ala464Val) c.1325C>T (p.Ala442Val) n.2824C>T c.1268C>T (p.Ala423Val) n.1552C>T | |
15 | g.27983409G>C | CA391359459 | OCA2 | c.1439C>G (p.Ala480Gly) c.1367C>G (p.Ala456Gly) c.1463C>G (p.Ala488Gly) c.1391C>G (p.Ala464Gly) c.1325C>G (p.Ala442Gly) n.2824C>G c.1268C>G (p.Ala423Gly) n.1552C>G | gnomAD v4 |
15 | g.27983409G>T | CA391359461 | OCA2 | c.1439C>A (p.Ala480Asp) c.1367C>A (p.Ala456Asp) c.1463C>A (p.Ala488Asp) c.1391C>A (p.Ala464Asp) c.1325C>A (p.Ala442Asp) n.2824C>A c.1268C>A (p.Ala423Asp) n.1552C>A | |
15 | g.27983410C>A | CA391359464 | OCA2 | c.1438G>T (p.Ala480Ser) c.1366G>T (p.Ala456Ser) c.1462G>T (p.Ala488Ser) c.1390G>T (p.Ala464Ser) c.1324G>T (p.Ala442Ser) n.2823G>T c.1267G>T (p.Ala423Ser) n.1551G>T | |
15 | g.27983410C= | CA2166409982 | OCA2 | c.1438G= (p.Ala480=) c.1366G= (p.Ala456=) c.1462G= (p.Ala488=) c.1390G= (p.Ala464=) c.1324G= (p.Ala442=) n.2823G= c.1267G= (p.Ala423=) n.1551G= | |
15 | g.27983410C>G | CA7439037 | OCA2 | c.1438G>C (p.Ala480Pro) c.1366G>C (p.Ala456Pro) c.1462G>C (p.Ala488Pro) c.1390G>C (p.Ala464Pro) c.1324G>C (p.Ala442Pro) n.2823G>C c.1267G>C (p.Ala423Pro) n.1551G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.27983410C>T | CA391359468 | OCA2 | c.1438G>A (p.Ala480Thr) c.1366G>A (p.Ala456Thr) c.1462G>A (p.Ala488Thr) c.1390G>A (p.Ala464Thr) c.1324G>A (p.Ala442Thr) n.2823G>A c.1267G>A (p.Ala423Thr) n.1551G>A | |
15 | g.27983414_27983416dup | CA2627359156 | OCA2 | c.1436_1438dup (p.Gly479_Ala480insGly) c.1364_1366dup (p.Gly455_Ala456insGly) c.1460_1462dup (p.Gly487_Ala488insGly) c.1388_1390dup (p.Gly463_Ala464insGly) c.1322_1324dup (p.Gly441_Ala442insGly) n.2821_2823dup c.1265_1267dup (p.Gly422_Ala423insGly) n.1549_1551dup | gnomAD v4 |
15 | g.27983411T>A | CA488958686 | OCA2 | c.1437A>T (p.Gly479=) c.1365A>T (p.Gly455=) c.1461A>T (p.Gly487=) c.1389A>T (p.Gly463=) c.1323A>T (p.Gly441=) n.2822A>T c.1266A>T (p.Gly422=) n.1550A>T | |
15 | g.27983411T>C | CA488958687 | OCA2 | c.1437A>G (p.Gly479=) c.1365A>G (p.Gly455=) c.1461A>G (p.Gly487=) c.1389A>G (p.Gly463=) c.1323A>G (p.Gly441=) n.2822A>G c.1266A>G (p.Gly422=) n.1550A>G | |
15 | g.27983411T>G | CA488958688 | OCA2 | c.1437A>C (p.Gly479=) c.1365A>C (p.Gly455=) c.1461A>C (p.Gly487=) c.1389A>C (p.Gly463=) c.1323A>C (p.Gly441=) n.2822A>C c.1266A>C (p.Gly422=) n.1550A>C | |
15 | g.27983412C>A | CA391359484 | OCA2 | c.1436G>T (p.Gly479Val) c.1364G>T (p.Gly455Val) c.1460G>T (p.Gly487Val) c.1388G>T (p.Gly463Val) c.1322G>T (p.Gly441Val) n.2821G>T c.1265G>T (p.Gly422Val) n.1549G>T | |
15 | g.27983412C>G | CA391359475 | OCA2 | c.1436G>C (p.Gly479Ala) c.1364G>C (p.Gly455Ala) c.1460G>C (p.Gly487Ala) c.1388G>C (p.Gly463Ala) c.1322G>C (p.Gly441Ala) n.2821G>C c.1265G>C (p.Gly422Ala) n.1549G>C | |
15 | g.27983412C>T | CA391359471 | OCA2 | c.1436G>A (p.Gly479Glu) c.1364G>A (p.Gly455Glu) c.1460G>A (p.Gly487Glu) c.1388G>A (p.Gly463Glu) c.1322G>A (p.Gly441Glu) n.2821G>A c.1265G>A (p.Gly422Glu) n.1549G>A | |
15 | g.27983413C>A | CA391359487 | OCA2 | c.1435G>T (p.Gly479Ter) c.1363G>T (p.Gly455Ter) c.1459G>T (p.Gly487Ter) c.1387G>T (p.Gly463Ter) c.1321G>T (p.Gly441Ter) n.2820G>T c.1264G>T (p.Gly422Ter) n.1548G>T | |
15 | g.27983413C>G | CA391359488 | OCA2 | c.1435G>C (p.Gly479Arg) c.1363G>C (p.Gly455Arg) c.1459G>C (p.Gly487Arg) c.1387G>C (p.Gly463Arg) c.1321G>C (p.Gly441Arg) n.2820G>C c.1264G>C (p.Gly422Arg) n.1548G>C | |
15 | g.27983413C>T | CA391359491 | OCA2 | c.1435G>A (p.Gly479Arg) c.1363G>A (p.Gly455Arg) c.1459G>A (p.Gly487Arg) c.1387G>A (p.Gly463Arg) c.1321G>A (p.Gly441Arg) n.2820G>A c.1264G>A (p.Gly422Arg) n.1548G>A | |
15 | g.27983414T>A | CA488958689 | OCA2 | c.1434A>T (p.Gly478=) c.1362A>T (p.Gly454=) c.1458A>T (p.Gly486=) c.1386A>T (p.Gly462=) c.1320A>T (p.Gly440=) n.2819A>T c.1263A>T (p.Gly421=) n.1547A>T | |
15 | g.27983414T>C | CA488958690 | OCA2 | c.1434A>G (p.Gly478=) c.1362A>G (p.Gly454=) c.1458A>G (p.Gly486=) c.1386A>G (p.Gly462=) c.1320A>G (p.Gly440=) n.2819A>G c.1263A>G (p.Gly421=) n.1547A>G | gnomAD v4 |
15 | g.27983414T>G | CA488958691 | OCA2 | c.1434A>C (p.Gly478=) c.1362A>C (p.Gly454=) c.1458A>C (p.Gly486=) c.1386A>C (p.Gly462=) c.1320A>C (p.Gly440=) n.2819A>C c.1263A>C (p.Gly421=) n.1547A>C | |
15 | g.27983415C>A | CA391359493 | OCA2 | c.1433G>T (p.Gly478Val) c.1361G>T (p.Gly454Val) c.1457G>T (p.Gly486Val) c.1385G>T (p.Gly462Val) c.1319G>T (p.Gly440Val) n.2818G>T c.1262G>T (p.Gly421Val) n.1546G>T | |
15 | g.27983415C>G | CA391359495 | OCA2 | c.1433G>C (p.Gly478Ala) c.1361G>C (p.Gly454Ala) c.1457G>C (p.Gly486Ala) c.1385G>C (p.Gly462Ala) c.1319G>C (p.Gly440Ala) n.2818G>C c.1262G>C (p.Gly421Ala) n.1546G>C | |
15 | g.27983415C>T | CA391359497 | OCA2 | c.1433G>A (p.Gly478Glu) c.1361G>A (p.Gly454Glu) c.1457G>A (p.Gly486Glu) c.1385G>A (p.Gly462Glu) c.1319G>A (p.Gly440Glu) n.2818G>A c.1262G>A (p.Gly421Glu) n.1546G>A | |
15 | g.27983416C>A | CA391359501 | OCA2 | c.1432G>T (p.Gly478Ter) c.1360G>T (p.Gly454Ter) c.1456G>T (p.Gly486Ter) c.1384G>T (p.Gly462Ter) c.1318G>T (p.Gly440Ter) n.2817G>T c.1261G>T (p.Gly421Ter) n.1545G>T | |
15 | g.27983416C>G | CA391359503 | OCA2 | c.1432G>C (p.Gly478Arg) c.1360G>C (p.Gly454Arg) c.1456G>C (p.Gly486Arg) c.1384G>C (p.Gly462Arg) c.1318G>C (p.Gly440Arg) n.2817G>C c.1261G>C (p.Gly421Arg) n.1545G>C | |
15 | g.27983416C>T | CA391359506 | OCA2 | c.1432G>A (p.Gly478Arg) c.1360G>A (p.Gly454Arg) c.1456G>A (p.Gly486Arg) c.1384G>A (p.Gly462Arg) c.1318G>A (p.Gly440Arg) n.2817G>A c.1261G>A (p.Gly421Arg) n.1545G>A | |
15 | g.27983417A= | CA2166409983 | OCA2 | c.1431T= (p.Ile477=) c.1359T= (p.Ile453=) c.1455T= (p.Ile485=) c.1383T= (p.Ile461=) c.1317T= (p.Ile439=) n.2816T= c.1260T= (p.Ile420=) n.1544T= | |
15 | g.27983417A>C | CA7439038 | OCA2 | c.1431T>G (p.Ile477Met) c.1359T>G (p.Ile453Met) c.1455T>G (p.Ile485Met) c.1383T>G (p.Ile461Met) c.1317T>G (p.Ile439Met) n.2816T>G c.1260T>G (p.Ile420Met) n.1544T>G | dbSNP ExAC |
15 | g.27983417A>G | CA488958692 | OCA2 | c.1431T>C (p.Ile477=) c.1359T>C (p.Ile453=) c.1455T>C (p.Ile485=) c.1383T>C (p.Ile461=) c.1317T>C (p.Ile439=) n.2816T>C c.1260T>C (p.Ile420=) n.1544T>C | dbSNP gnomAD v2 |
15 | g.27983417A>T | CA488958693 | OCA2 | c.1431T>A (p.Ile477=) c.1359T>A (p.Ile453=) c.1455T>A (p.Ile485=) c.1383T>A (p.Ile461=) c.1317T>A (p.Ile439=) n.2816T>A c.1260T>A (p.Ile420=) n.1544T>A | |
15 | g.27983418A= | CA2166409984 | OCA2 | c.1430T= (p.Ile477=) c.1358T= (p.Ile453=) c.1454T= (p.Ile485=) c.1382T= (p.Ile461=) c.1316T= (p.Ile439=) n.2815T= c.1259T= (p.Ile420=) n.1543T= | |
15 | g.27983418A>C | CA391359508 | OCA2 | c.1430T>G (p.Ile477Ser) c.1358T>G (p.Ile453Ser) c.1454T>G (p.Ile485Ser) c.1382T>G (p.Ile461Ser) c.1316T>G (p.Ile439Ser) n.2815T>G c.1259T>G (p.Ile420Ser) n.1543T>G | |
15 | g.27983418A>G | CA7439039 | OCA2 | c.1430T>C (p.Ile477Thr) c.1358T>C (p.Ile453Thr) c.1454T>C (p.Ile485Thr) c.1382T>C (p.Ile461Thr) c.1316T>C (p.Ile439Thr) n.2815T>C c.1259T>C (p.Ile420Thr) n.1543T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.27983418A>T | CA391359512 | OCA2 | c.1430T>A (p.Ile477Asn) c.1358T>A (p.Ile453Asn) c.1454T>A (p.Ile485Asn) c.1382T>A (p.Ile461Asn) c.1316T>A (p.Ile439Asn) n.2815T>A c.1259T>A (p.Ile420Asn) n.1543T>A | |
15 | g.27983419T>A | CA391359516 | OCA2 | c.1429A>T (p.Ile477Phe) c.1357A>T (p.Ile453Phe) c.1453A>T (p.Ile485Phe) c.1381A>T (p.Ile461Phe) c.1315A>T (p.Ile439Phe) n.2814A>T c.1258A>T (p.Ile420Phe) n.1542A>T | dbSNP |
15 | g.27983419T>C | CA267890275 | OCA2 | c.1429A>G (p.Ile477Val) c.1357A>G (p.Ile453Val) c.1453A>G (p.Ile485Val) c.1381A>G (p.Ile461Val) c.1315A>G (p.Ile439Val) n.2814A>G c.1258A>G (p.Ile420Val) n.1542A>G | ClinVar dbSNP gnomAD v4 |
15 | g.27983419T>G | CA391359513 | OCA2 | c.1429A>C (p.Ile477Leu) c.1357A>C (p.Ile453Leu) c.1453A>C (p.Ile485Leu) c.1381A>C (p.Ile461Leu) c.1315A>C (p.Ile439Leu) n.2814A>C c.1258A>C (p.Ile420Leu) n.1542A>C | |
15 | g.27983419T= | CA2166409985 | OCA2 | c.1429A= (p.Ile477=) c.1357A= (p.Ile453=) c.1453A= (p.Ile485=) c.1381A= (p.Ile461=) c.1315A= (p.Ile439=) n.2814A= c.1258A= (p.Ile420=) n.1542A= | |
15 | g.27983420G>A | CA488958694 | OCA2 | c.1428C>T (p.Asn476=) c.1356C>T (p.Asn452=) c.1452C>T (p.Asn484=) c.1380C>T (p.Asn460=) c.1314C>T (p.Asn438=) n.2813C>T c.1257C>T (p.Asn419=) n.1541C>T | COSMIC |
15 | g.27983420G>C | CA391359519 | OCA2 | c.1428C>G (p.Asn476Lys) c.1356C>G (p.Asn452Lys) c.1452C>G (p.Asn484Lys) c.1380C>G (p.Asn460Lys) c.1314C>G (p.Asn438Lys) n.2813C>G c.1257C>G (p.Asn419Lys) n.1541C>G | |
15 | g.27983420G>T | CA391359520 | OCA2 | c.1428C>A (p.Asn476Lys) c.1356C>A (p.Asn452Lys) c.1452C>A (p.Asn484Lys) c.1380C>A (p.Asn460Lys) c.1314C>A (p.Asn438Lys) n.2813C>A c.1257C>A (p.Asn419Lys) n.1541C>A | |
15 | g.27983421T>A | CA391359523 | OCA2 | c.1427A>T (p.Asn476Ile) c.1355A>T (p.Asn452Ile) c.1451A>T (p.Asn484Ile) c.1379A>T (p.Asn460Ile) c.1313A>T (p.Asn438Ile) n.2812A>T c.1256A>T (p.Asn419Ile) n.1540A>T | |
15 | g.27983421T>C | CA276958 | OCA2 | c.1427A>G (p.Asn476Ser) c.1355A>G (p.Asn452Ser) c.1451A>G (p.Asn484Ser) c.1379A>G (p.Asn460Ser) c.1313A>G (p.Asn438Ser) n.2812A>G c.1256A>G (p.Asn419Ser) n.1540A>G | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |