Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.27983407C>ACA391359451OCA2c.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
15g.27983407C=CA2166409981OCA2c.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=
15g.27983407C>GCA391359453OCA2c.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
15g.27983407C>TCA251633OCA2c.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
15g.27983408A>CCA488958683OCA2c.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
15g.27983408A>GCA488958684OCA2c.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
15g.27983408A>TCA488958685OCA2c.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
15g.27983409G>ACA391359456OCA2c.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
15g.27983409G>CCA391359459OCA2c.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
15g.27983409G>TCA391359461OCA2c.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
15g.27983410C>ACA391359464OCA2c.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
15g.27983410C=CA2166409982OCA2c.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=
15g.27983410C>GCA7439037OCA2c.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
15g.27983410C>TCA391359468OCA2c.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
15g.27983414_27983416dupCA2627359156OCA2c.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
15g.27983411T>ACA488958686OCA2c.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
15g.27983411T>CCA488958687OCA2c.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
15g.27983411T>GCA488958688OCA2c.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
15g.27983412C>ACA391359484OCA2c.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
15g.27983412C>GCA391359475OCA2c.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
15g.27983412C>TCA391359471OCA2c.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
15g.27983413C>ACA391359487OCA2c.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
15g.27983413C>GCA391359488OCA2c.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
15g.27983413C>TCA391359491OCA2c.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
15g.27983414T>ACA488958689OCA2c.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
15g.27983414T>CCA488958690OCA2c.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
15g.27983414T>GCA488958691OCA2c.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
15g.27983415C>ACA391359493OCA2c.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
15g.27983415C>GCA391359495OCA2c.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
15g.27983415C>TCA391359497OCA2c.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
15g.27983416C>ACA391359501OCA2c.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
15g.27983416C>GCA391359503OCA2c.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
15g.27983416C>TCA391359506OCA2c.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
15g.27983417A=CA2166409983OCA2c.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=
15g.27983417A>CCA7439038OCA2c.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
15g.27983417A>GCA488958692OCA2c.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
15g.27983417A>TCA488958693OCA2c.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
15g.27983418A=CA2166409984OCA2c.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=
15g.27983418A>CCA391359508OCA2c.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
15g.27983418A>GCA7439039OCA2c.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
15g.27983418A>TCA391359512OCA2c.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
15g.27983419T>ACA391359516OCA2c.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
15g.27983419T>CCA267890275OCA2c.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
15g.27983419T>GCA391359513OCA2c.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
15g.27983419T=CA2166409985OCA2c.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=
15g.27983420G>ACA488958694OCA2c.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
15g.27983420G>CCA391359519OCA2c.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
15g.27983420G>TCA391359520OCA2c.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
15g.27983421T>ACA391359523OCA2c.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
15g.27983421T>CCA276958OCA2c.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

Number of alleles fetched