Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.69382675_69382676delinsTGCA1917772212HK1c.1454_1455delinsTG (p.Leu485=)
c.1370_1371delinsTG (p.Leu457=)
c.1265+2580_1265+2581delinsTG (n.1265+2580_1265+2581delinsTG)
c.1064_1065delinsTG (p.Leu355=)
c.*1071_*1072delinsTG (n.*1071_*1072delinsTG)
c.*717_*718delinsTG (n.*717_*718delinsTG)
c.1334_1335delinsTG (p.Leu445=)
n.2004_2005delinsTG
c.1451_1452delinsTG (p.Leu484=)
c.1466_1467delinsTG (p.Leu489=)
c.*1342_*1343delinsTG (n.*1342_*1343delinsTG)
c.1418_1419delinsTG (p.Leu473=)
n.1680_1681delinsTG
c.1583_1584delinsTG (p.Leu528=)
c.1412_1413delinsTG (p.Leu471=)
c.1409_1410delinsTG (p.Leu470=)
c.1559_1560delinsTG (p.Leu520=)
c.1358_1359delinsTG (p.Leu453=)
10g.69382676G>ACA470276661HK1c.1455G>A (p.Leu485=)
c.1371G>A (p.Leu457=)
c.1265+2581G>A (n.1265+2581G>A)
c.1065G>A (p.Leu355=)
c.*1072G>A (n.*1072G>A)
c.*718G>A (n.*718G>A)
c.1335G>A (p.Leu445=)
n.2005G>A
c.1452G>A (p.Leu484=)
c.1467G>A (p.Leu489=)
c.*1343G>A (n.*1343G>A)
c.1419G>A (p.Leu473=)
n.1681G>A
c.1584G>A (p.Leu528=)
c.1413G>A (p.Leu471=)
c.1410G>A (p.Leu470=)
c.1560G>A (p.Leu520=)
c.1359G>A (p.Leu453=)
 gnomAD v4
10g.69382676G>CCA470276662HK1c.1455G>C (p.Leu485=)
c.1371G>C (p.Leu457=)
c.1265+2581G>C (n.1265+2581G>C)
c.1065G>C (p.Leu355=)
c.*1072G>C (n.*1072G>C)
c.*718G>C (n.*718G>C)
c.1335G>C (p.Leu445=)
n.2005G>C
c.1452G>C (p.Leu484=)
c.1467G>C (p.Leu489=)
c.*1343G>C (n.*1343G>C)
c.1419G>C (p.Leu473=)
n.1681G>C
c.1584G>C (p.Leu528=)
c.1413G>C (p.Leu471=)
c.1410G>C (p.Leu470=)
c.1560G>C (p.Leu520=)
c.1359G>C (p.Leu453=)
10g.69382676G>TCA470276660HK1c.1455G>T (p.Leu485=)
c.1371G>T (p.Leu457=)
c.1265+2581G>T (n.1265+2581G>T)
c.1065G>T (p.Leu355=)
c.*1072G>T (n.*1072G>T)
c.*718G>T (n.*718G>T)
c.1335G>T (p.Leu445=)
n.2005G>T
c.1452G>T (p.Leu484=)
c.1467G>T (p.Leu489=)
c.*1343G>T (n.*1343G>T)
c.1419G>T (p.Leu473=)
n.1681G>T
c.1584G>T (p.Leu528=)
c.1413G>T (p.Leu471=)
c.1410G>T (p.Leu470=)
c.1560G>T (p.Leu520=)
c.1359G>T (p.Leu453=)
10g.69382677delCA594254125HK1c.1456del (p.Glu486ArgfsTer2)
c.1372del (p.Glu458ArgfsTer2)
c.1265+2582del (n.1265+2582del)
c.1066del (p.Glu356ArgfsTer2)
c.*1073del (n.*1073del)
c.*719del (n.*719del)
c.1336del (p.Glu446ArgfsTer2)
n.2006del
c.1453del (p.Glu485ArgfsTer2)
c.1468del (p.Glu490ArgfsTer2)
c.*1344del (n.*1344del)
c.1420del (p.Glu474ArgfsTer2)
n.1682del
c.1585del (p.Glu529ArgfsTer2)
c.1414del (p.Glu472ArgfsTer2)
c.1411del (p.Glu471ArgfsTer2)
c.1561del (p.Glu521ArgfsTer2)
c.1360del (p.Glu454ArgfsTer2)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.69382677G>ACA376909968HK1c.1456G>A (p.Glu486Lys)
c.1372G>A (p.Glu458Lys)
c.1265+2582G>A (n.1265+2582G>A)
c.1066G>A (p.Glu356Lys)
c.*1073G>A (n.*1073G>A)
c.*719G>A (n.*719G>A)
c.1336G>A (p.Glu446Lys)
n.2006G>A
c.1453G>A (p.Glu485Lys)
c.1468G>A (p.Glu490Lys)
c.*1344G>A (n.*1344G>A)
c.1420G>A (p.Glu474Lys)
n.1682G>A
c.1585G>A (p.Glu529Lys)
c.1414G>A (p.Glu472Lys)
c.1411G>A (p.Glu471Lys)
c.1561G>A (p.Glu521Lys)
c.1360G>A (p.Glu454Lys)
10g.69382677G>CCA376909969HK1c.1456G>C (p.Glu486Gln)
c.1372G>C (p.Glu458Gln)
c.1265+2582G>C (n.1265+2582G>C)
c.1066G>C (p.Glu356Gln)
c.*1073G>C (n.*1073G>C)
c.*719G>C (n.*719G>C)
c.1336G>C (p.Glu446Gln)
n.2006G>C
c.1453G>C (p.Glu485Gln)
c.1468G>C (p.Glu490Gln)
c.*1344G>C (n.*1344G>C)
c.1420G>C (p.Glu474Gln)
n.1682G>C
c.1585G>C (p.Glu529Gln)
c.1414G>C (p.Glu472Gln)
c.1411G>C (p.Glu471Gln)
c.1561G>C (p.Glu521Gln)
c.1360G>C (p.Glu454Gln)
10g.69382677G>TCA376909970HK1c.1456G>T (p.Glu486Ter)
c.1372G>T (p.Glu458Ter)
c.1265+2582G>T (n.1265+2582G>T)
c.1066G>T (p.Glu356Ter)
c.*1073G>T (n.*1073G>T)
c.*719G>T (n.*719G>T)
c.1336G>T (p.Glu446Ter)
n.2006G>T
c.1453G>T (p.Glu485Ter)
c.1468G>T (p.Glu490Ter)
c.*1344G>T (n.*1344G>T)
c.1420G>T (p.Glu474Ter)
n.1682G>T
c.1585G>T (p.Glu529Ter)
c.1414G>T (p.Glu472Ter)
c.1411G>T (p.Glu471Ter)
c.1561G>T (p.Glu521Ter)
c.1360G>T (p.Glu454Ter)
 gnomAD v4
10g.69382678A>CCA376909971HK1c.1457A>C (p.Glu486Ala)
c.1373A>C (p.Glu458Ala)
c.1265+2583A>C (n.1265+2583A>C)
c.1067A>C (p.Glu356Ala)
c.*1074A>C (n.*1074A>C)
c.*720A>C (n.*720A>C)
c.1337A>C (p.Glu446Ala)
n.2007A>C
c.1454A>C (p.Glu485Ala)
c.1469A>C (p.Glu490Ala)
c.*1345A>C (n.*1345A>C)
c.1421A>C (p.Glu474Ala)
n.1683A>C
c.1586A>C (p.Glu529Ala)
c.1415A>C (p.Glu472Ala)
c.1412A>C (p.Glu471Ala)
c.1562A>C (p.Glu521Ala)
c.1361A>C (p.Glu454Ala)
 gnomAD v4
10g.69382678A>GCA376909972HK1c.1457A>G (p.Glu486Gly)
c.1373A>G (p.Glu458Gly)
c.1265+2583A>G (n.1265+2583A>G)
c.1067A>G (p.Glu356Gly)
c.*1074A>G (n.*1074A>G)
c.*720A>G (n.*720A>G)
c.1337A>G (p.Glu446Gly)
n.2007A>G
c.1454A>G (p.Glu485Gly)
c.1469A>G (p.Glu490Gly)
c.*1345A>G (n.*1345A>G)
c.1421A>G (p.Glu474Gly)
n.1683A>G
c.1586A>G (p.Glu529Gly)
c.1415A>G (p.Glu472Gly)
c.1412A>G (p.Glu471Gly)
c.1562A>G (p.Glu521Gly)
c.1361A>G (p.Glu454Gly)
10g.69382678A>TCA376909973HK1c.1457A>T (p.Glu486Val)
c.1373A>T (p.Glu458Val)
c.1265+2583A>T (n.1265+2583A>T)
c.1067A>T (p.Glu356Val)
c.*1074A>T (n.*1074A>T)
c.*720A>T (n.*720A>T)
c.1337A>T (p.Glu446Val)
n.2007A>T
c.1454A>T (p.Glu485Val)
c.1469A>T (p.Glu490Val)
c.*1345A>T (n.*1345A>T)
c.1421A>T (p.Glu474Val)
n.1683A>T
c.1586A>T (p.Glu529Val)
c.1415A>T (p.Glu472Val)
c.1412A>T (p.Glu471Val)
c.1562A>T (p.Glu521Val)
c.1361A>T (p.Glu454Val)
10g.69382679G>ACA470276665HK1c.1458G>A (p.Glu486=)
c.1374G>A (p.Glu458=)
c.1265+2584G>A (n.1265+2584G>A)
c.1068G>A (p.Glu356=)
c.*1075G>A (n.*1075G>A)
c.*721G>A (n.*721G>A)
c.1338G>A (p.Glu446=)
n.2008G>A
c.1455G>A (p.Glu485=)
c.1470G>A (p.Glu490=)
c.*1346G>A (n.*1346G>A)
c.1422G>A (p.Glu474=)
n.1684G>A
c.1587G>A (p.Glu529=)
c.1416G>A (p.Glu472=)
c.1413G>A (p.Glu471=)
c.1563G>A (p.Glu521=)
c.1362G>A (p.Glu454=)
10g.69382679G>CCA376909974HK1c.1458G>C (p.Glu486Asp)
c.1374G>C (p.Glu458Asp)
c.1265+2584G>C (n.1265+2584G>C)
c.1068G>C (p.Glu356Asp)
c.*1075G>C (n.*1075G>C)
c.*721G>C (n.*721G>C)
c.1338G>C (p.Glu446Asp)
n.2008G>C
c.1455G>C (p.Glu485Asp)
c.1470G>C (p.Glu490Asp)
c.*1346G>C (n.*1346G>C)
c.1422G>C (p.Glu474Asp)
n.1684G>C
c.1587G>C (p.Glu529Asp)
c.1416G>C (p.Glu472Asp)
c.1413G>C (p.Glu471Asp)
c.1563G>C (p.Glu521Asp)
c.1362G>C (p.Glu454Asp)
10g.69382679G>TCA376909975HK1c.1458G>T (p.Glu486Asp)
c.1374G>T (p.Glu458Asp)
c.1265+2584G>T (n.1265+2584G>T)
c.1068G>T (p.Glu356Asp)
c.*1075G>T (n.*1075G>T)
c.*721G>T (n.*721G>T)
c.1338G>T (p.Glu446Asp)
n.2008G>T
c.1455G>T (p.Glu485Asp)
c.1470G>T (p.Glu490Asp)
c.*1346G>T (n.*1346G>T)
c.1422G>T (p.Glu474Asp)
n.1684G>T
c.1587G>T (p.Glu529Asp)
c.1416G>T (p.Glu472Asp)
c.1413G>T (p.Glu471Asp)
c.1563G>T (p.Glu521Asp)
c.1362G>T (p.Glu454Asp)
10g.69382680G>ACA376909976HK1c.1459G>A (p.Val487Met)
c.1375G>A (p.Val459Met)
c.1265+2585G>A (n.1265+2585G>A)
c.1069G>A (p.Val357Met)
c.*1076G>A (n.*1076G>A)
c.*722G>A (n.*722G>A)
c.1339G>A (p.Val447Met)
n.2009G>A
c.1456G>A (p.Val486Met)
c.1471G>A (p.Val491Met)
c.*1347G>A (n.*1347G>A)
c.1423G>A (p.Val475Met)
n.1685G>A
c.1588G>A (p.Val530Met)
c.1417G>A (p.Val473Met)
c.1414G>A (p.Val472Met)
c.1564G>A (p.Val522Met)
c.1363G>A (p.Val455Met)
10g.69382680G>CCA376909977HK1c.1459G>C (p.Val487Leu)
c.1375G>C (p.Val459Leu)
c.1265+2585G>C (n.1265+2585G>C)
c.1069G>C (p.Val357Leu)
c.*1076G>C (n.*1076G>C)
c.*722G>C (n.*722G>C)
c.1339G>C (p.Val447Leu)
n.2009G>C
c.1456G>C (p.Val486Leu)
c.1471G>C (p.Val491Leu)
c.*1347G>C (n.*1347G>C)
c.1423G>C (p.Val475Leu)
n.1685G>C
c.1588G>C (p.Val530Leu)
c.1417G>C (p.Val473Leu)
c.1414G>C (p.Val472Leu)
c.1564G>C (p.Val522Leu)
c.1363G>C (p.Val455Leu)
10g.69382680G>TCA376909978HK1c.1459G>T (p.Val487Leu)
c.1375G>T (p.Val459Leu)
c.1265+2585G>T (n.1265+2585G>T)
c.1069G>T (p.Val357Leu)
c.*1076G>T (n.*1076G>T)
c.*722G>T (n.*722G>T)
c.1339G>T (p.Val447Leu)
n.2009G>T
c.1456G>T (p.Val486Leu)
c.1471G>T (p.Val491Leu)
c.*1347G>T (n.*1347G>T)
c.1423G>T (p.Val475Leu)
n.1685G>T
c.1588G>T (p.Val530Leu)
c.1417G>T (p.Val473Leu)
c.1414G>T (p.Val472Leu)
c.1564G>T (p.Val522Leu)
c.1363G>T (p.Val455Leu)
10g.69382681T>ACA376909981HK1c.1460T>A (p.Val487Glu)
c.1376T>A (p.Val459Glu)
c.1265+2586T>A (n.1265+2586T>A)
c.1070T>A (p.Val357Glu)
c.*1077T>A (n.*1077T>A)
c.*723T>A (n.*723T>A)
c.1340T>A (p.Val447Glu)
n.2010T>A
c.1457T>A (p.Val486Glu)
c.1472T>A (p.Val491Glu)
c.*1348T>A (n.*1348T>A)
c.1424T>A (p.Val475Glu)
n.1686T>A
c.1589T>A (p.Val530Glu)
c.1418T>A (p.Val473Glu)
c.1415T>A (p.Val472Glu)
c.1565T>A (p.Val522Glu)
c.1364T>A (p.Val455Glu)
10g.69382681T>CCA376909980HK1c.1460T>C (p.Val487Ala)
c.1376T>C (p.Val459Ala)
c.1265+2586T>C (n.1265+2586T>C)
c.1070T>C (p.Val357Ala)
c.*1077T>C (n.*1077T>C)
c.*723T>C (n.*723T>C)
c.1340T>C (p.Val447Ala)
n.2010T>C
c.1457T>C (p.Val486Ala)
c.1472T>C (p.Val491Ala)
c.*1348T>C (n.*1348T>C)
c.1424T>C (p.Val475Ala)
n.1686T>C
c.1589T>C (p.Val530Ala)
c.1418T>C (p.Val473Ala)
c.1415T>C (p.Val472Ala)
c.1565T>C (p.Val522Ala)
c.1364T>C (p.Val455Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.69382681T>GCA376909979HK1c.1460T>G (p.Val487Gly)
c.1376T>G (p.Val459Gly)
c.1265+2586T>G (n.1265+2586T>G)
c.1070T>G (p.Val357Gly)
c.*1077T>G (n.*1077T>G)
c.*723T>G (n.*723T>G)
c.1340T>G (p.Val447Gly)
n.2010T>G
c.1457T>G (p.Val486Gly)
c.1472T>G (p.Val491Gly)
c.*1348T>G (n.*1348T>G)
c.1424T>G (p.Val475Gly)
n.1686T>G
c.1589T>G (p.Val530Gly)
c.1418T>G (p.Val473Gly)
c.1415T>G (p.Val472Gly)
c.1565T>G (p.Val522Gly)
c.1364T>G (p.Val455Gly)
 dbSNP
10g.69382681T=CA1917772217HK1c.1460T= (p.Val487=)
c.1376T= (p.Val459=)
c.1265+2586T= (n.1265+2586T=)
c.1070T= (p.Val357=)
c.*1077T= (n.*1077T=)
c.*723T= (n.*723T=)
c.1340T= (p.Val447=)
n.2010T=
c.1457T= (p.Val486=)
c.1472T= (p.Val491=)
c.*1348T= (n.*1348T=)
c.1424T= (p.Val475=)
n.1686T=
c.1589T= (p.Val530=)
c.1418T= (p.Val473=)
c.1415T= (p.Val472=)
c.1565T= (p.Val522=)
c.1364T= (p.Val455=)
10g.69382682G>ACA470276479HK1c.1461G>A (p.Val487=)
c.1377G>A (p.Val459=)
c.1265+2587G>A (n.1265+2587G>A)
c.1071G>A (p.Val357=)
c.*1078G>A (n.*1078G>A)
c.*724G>A (n.*724G>A)
c.1341G>A (p.Val447=)
n.2011G>A
c.1458G>A (p.Val486=)
c.1473G>A (p.Val491=)
c.*1349G>A (n.*1349G>A)
c.1425G>A (p.Val475=)
n.1687G>A
c.1590G>A (p.Val530=)
c.1419G>A (p.Val473=)
c.1416G>A (p.Val472=)
c.1566G>A (p.Val522=)
c.1365G>A (p.Val455=)
 dbSNP
10g.69382682G>CCA470276475HK1c.1461G>C (p.Val487=)
c.1377G>C (p.Val459=)
c.1265+2587G>C (n.1265+2587G>C)
c.1071G>C (p.Val357=)
c.*1078G>C (n.*1078G>C)
c.*724G>C (n.*724G>C)
c.1341G>C (p.Val447=)
n.2011G>C
c.1458G>C (p.Val486=)
c.1473G>C (p.Val491=)
c.*1349G>C (n.*1349G>C)
c.1425G>C (p.Val475=)
n.1687G>C
c.1590G>C (p.Val530=)
c.1419G>C (p.Val473=)
c.1416G>C (p.Val472=)
c.1566G>C (p.Val522=)
c.1365G>C (p.Val455=)
10g.69382682G=CA1917772221HK1c.1461G= (p.Val487=)
c.1377G= (p.Val459=)
c.1265+2587G= (n.1265+2587G=)
c.1071G= (p.Val357=)
c.*1078G= (n.*1078G=)
c.*724G= (n.*724G=)
c.1341G= (p.Val447=)
n.2011G=
c.1458G= (p.Val486=)
c.1473G= (p.Val491=)
c.*1349G= (n.*1349G=)
c.1425G= (p.Val475=)
n.1687G=
c.1590G= (p.Val530=)
c.1419G= (p.Val473=)
c.1416G= (p.Val472=)
c.1566G= (p.Val522=)
c.1365G= (p.Val455=)
10g.69382682G>TCA5532605HK1c.1461G>T (p.Val487=)
c.1377G>T (p.Val459=)
c.1265+2587G>T (n.1265+2587G>T)
c.1071G>T (p.Val357=)
c.*1078G>T (n.*1078G>T)
c.*724G>T (n.*724G>T)
c.1341G>T (p.Val447=)
n.2011G>T
c.1458G>T (p.Val486=)
c.1473G>T (p.Val491=)
c.*1349G>T (n.*1349G>T)
c.1425G>T (p.Val475=)
n.1687G>T
c.1590G>T (p.Val530=)
c.1419G>T (p.Val473=)
c.1416G>T (p.Val472=)
c.1566G>T (p.Val522=)
c.1365G>T (p.Val455=)
 dbSNP ExAC gnomAD v2
10g.69382683A>CCA376909982HK1c.1462A>C (p.Lys488Gln)
c.1378A>C (p.Lys460Gln)
c.1265+2588A>C (n.1265+2588A>C)
c.1072A>C (p.Lys358Gln)
c.*1079A>C (n.*1079A>C)
c.*725A>C (n.*725A>C)
c.1342A>C (p.Lys448Gln)
n.2012A>C
c.1459A>C (p.Lys487Gln)
c.1474A>C (p.Lys492Gln)
c.*1350A>C (n.*1350A>C)
c.1426A>C (p.Lys476Gln)
n.1688A>C
c.1591A>C (p.Lys531Gln)
c.1420A>C (p.Lys474Gln)
c.1417A>C (p.Lys473Gln)
c.1567A>C (p.Lys523Gln)
c.1366A>C (p.Lys456Gln)
10g.69382683A>GCA376909983HK1c.1462A>G (p.Lys488Glu)
c.1378A>G (p.Lys460Glu)
c.1265+2588A>G (n.1265+2588A>G)
c.1072A>G (p.Lys358Glu)
c.*1079A>G (n.*1079A>G)
c.*725A>G (n.*725A>G)
c.1342A>G (p.Lys448Glu)
n.2012A>G
c.1459A>G (p.Lys487Glu)
c.1474A>G (p.Lys492Glu)
c.*1350A>G (n.*1350A>G)
c.1426A>G (p.Lys476Glu)
n.1688A>G
c.1591A>G (p.Lys531Glu)
c.1420A>G (p.Lys474Glu)
c.1417A>G (p.Lys473Glu)
c.1567A>G (p.Lys523Glu)
c.1366A>G (p.Lys456Glu)
 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
10g.69382683A>TCA376909984HK1c.1462A>T (p.Lys488Ter)
c.1378A>T (p.Lys460Ter)
c.1265+2588A>T (n.1265+2588A>T)
c.1072A>T (p.Lys358Ter)
c.*1079A>T (n.*1079A>T)
c.*725A>T (n.*725A>T)
c.1342A>T (p.Lys448Ter)
n.2012A>T
c.1459A>T (p.Lys487Ter)
c.1474A>T (p.Lys492Ter)
c.*1350A>T (n.*1350A>T)
c.1426A>T (p.Lys476Ter)
n.1688A>T
c.1591A>T (p.Lys531Ter)
c.1420A>T (p.Lys474Ter)
c.1417A>T (p.Lys473Ter)
c.1567A>T (p.Lys523Ter)
c.1366A>T (p.Lys456Ter)
10g.69382684A=CA1917772224HK1c.1463A= (p.Lys488=)
c.1379A= (p.Lys460=)
c.1265+2589A= (n.1265+2589A=)
c.1073A= (p.Lys358=)
c.*1080A= (n.*1080A=)
c.*726A= (n.*726A=)
c.1343A= (p.Lys448=)
n.2013A=
c.1460A= (p.Lys487=)
c.1475A= (p.Lys492=)
c.*1351A= (n.*1351A=)
c.1427A= (p.Lys476=)
n.1689A=
c.1592A= (p.Lys531=)
c.1421A= (p.Lys474=)
c.1418A= (p.Lys473=)
c.1568A= (p.Lys523=)
c.1367A= (p.Lys456=)
10g.69382684A>CCA376909985HK1c.1463A>C (p.Lys488Thr)
c.1379A>C (p.Lys460Thr)
c.1265+2589A>C (n.1265+2589A>C)
c.1073A>C (p.Lys358Thr)
c.*1080A>C (n.*1080A>C)
c.*726A>C (n.*726A>C)
c.1343A>C (p.Lys448Thr)
n.2013A>C
c.1460A>C (p.Lys487Thr)
c.1475A>C (p.Lys492Thr)
c.*1351A>C (n.*1351A>C)
c.1427A>C (p.Lys476Thr)
n.1689A>C
c.1592A>C (p.Lys531Thr)
c.1421A>C (p.Lys474Thr)
c.1418A>C (p.Lys473Thr)
c.1568A>C (p.Lys523Thr)
c.1367A>C (p.Lys456Thr)
 dbSNP
10g.69382684A>GCA376909986HK1c.1463A>G (p.Lys488Arg)
c.1379A>G (p.Lys460Arg)
c.1265+2589A>G (n.1265+2589A>G)
c.1073A>G (p.Lys358Arg)
c.*1080A>G (n.*1080A>G)
c.*726A>G (n.*726A>G)
c.1343A>G (p.Lys448Arg)
n.2013A>G
c.1460A>G (p.Lys487Arg)
c.1475A>G (p.Lys492Arg)
c.*1351A>G (n.*1351A>G)
c.1427A>G (p.Lys476Arg)
n.1689A>G
c.1592A>G (p.Lys531Arg)
c.1421A>G (p.Lys474Arg)
c.1418A>G (p.Lys473Arg)
c.1568A>G (p.Lys523Arg)
c.1367A>G (p.Lys456Arg)
 dbSNP gnomAD v2 gnomAD v4
10g.69382684A>TCA376909987HK1c.1463A>T (p.Lys488Met)
c.1379A>T (p.Lys460Met)
c.1265+2589A>T (n.1265+2589A>T)
c.1073A>T (p.Lys358Met)
c.*1080A>T (n.*1080A>T)
c.*726A>T (n.*726A>T)
c.1343A>T (p.Lys448Met)
n.2013A>T
c.1460A>T (p.Lys487Met)
c.1475A>T (p.Lys492Met)
c.*1351A>T (n.*1351A>T)
c.1427A>T (p.Lys476Met)
n.1689A>T
c.1592A>T (p.Lys531Met)
c.1421A>T (p.Lys474Met)
c.1418A>T (p.Lys473Met)
c.1568A>T (p.Lys523Met)
c.1367A>T (p.Lys456Met)
10g.69382685G>ACA470276482HK1c.1464G>A (p.Lys488=)
c.1380G>A (p.Lys460=)
c.1265+2590G>A (n.1265+2590G>A)
c.1074G>A (p.Lys358=)
c.*1081G>A (n.*1081G>A)
c.*727G>A (n.*727G>A)
c.1344G>A (p.Lys448=)
n.2014G>A
c.1461G>A (p.Lys487=)
c.1476G>A (p.Lys492=)
c.*1352G>A (n.*1352G>A)
c.1428G>A (p.Lys476=)
n.1690G>A
c.1593G>A (p.Lys531=)
c.1422G>A (p.Lys474=)
c.1419G>A (p.Lys473=)
c.1569G>A (p.Lys523=)
c.1368G>A (p.Lys456=)
10g.69382685G>CCA376909988HK1c.1464G>C (p.Lys488Asn)
c.1380G>C (p.Lys460Asn)
c.1265+2590G>C (n.1265+2590G>C)
c.1074G>C (p.Lys358Asn)
c.*1081G>C (n.*1081G>C)
c.*727G>C (n.*727G>C)
c.1344G>C (p.Lys448Asn)
n.2014G>C
c.1461G>C (p.Lys487Asn)
c.1476G>C (p.Lys492Asn)
c.*1352G>C (n.*1352G>C)
c.1428G>C (p.Lys476Asn)
n.1690G>C
c.1593G>C (p.Lys531Asn)
c.1422G>C (p.Lys474Asn)
c.1419G>C (p.Lys473Asn)
c.1569G>C (p.Lys523Asn)
c.1368G>C (p.Lys456Asn)
10g.69382685G>TCA376909989HK1c.1464G>T (p.Lys488Asn)
c.1380G>T (p.Lys460Asn)
c.1265+2590G>T (n.1265+2590G>T)
c.1074G>T (p.Lys358Asn)
c.*1081G>T (n.*1081G>T)
c.*727G>T (n.*727G>T)
c.1344G>T (p.Lys448Asn)
n.2014G>T
c.1461G>T (p.Lys487Asn)
c.1476G>T (p.Lys492Asn)
c.*1352G>T (n.*1352G>T)
c.1428G>T (p.Lys476Asn)
n.1690G>T
c.1593G>T (p.Lys531Asn)
c.1422G>T (p.Lys474Asn)
c.1419G>T (p.Lys473Asn)
c.1569G>T (p.Lys523Asn)
c.1368G>T (p.Lys456Asn)
10g.69382686A>CCA376909990HK1c.1465A>C (p.Lys489Gln)
c.1381A>C (p.Lys461Gln)
c.1265+2591A>C (n.1265+2591A>C)
c.1075A>C (p.Lys359Gln)
c.*1082A>C (n.*1082A>C)
c.*728A>C (n.*728A>C)
c.1345A>C (p.Lys449Gln)
n.2015A>C
c.1462A>C (p.Lys488Gln)
c.1477A>C (p.Lys493Gln)
c.*1353A>C (n.*1353A>C)
c.1429A>C (p.Lys477Gln)
n.1691A>C
c.1594A>C (p.Lys532Gln)
c.1423A>C (p.Lys475Gln)
c.1420A>C (p.Lys474Gln)
c.1570A>C (p.Lys524Gln)
c.1369A>C (p.Lys457Gln)
10g.69382686A>GCA376909991HK1c.1465A>G (p.Lys489Glu)
c.1381A>G (p.Lys461Glu)
c.1265+2591A>G (n.1265+2591A>G)
c.1075A>G (p.Lys359Glu)
c.*1082A>G (n.*1082A>G)
c.*728A>G (n.*728A>G)
c.1345A>G (p.Lys449Glu)
n.2015A>G
c.1462A>G (p.Lys488Glu)
c.1477A>G (p.Lys493Glu)
c.*1353A>G (n.*1353A>G)
c.1429A>G (p.Lys477Glu)
n.1691A>G
c.1594A>G (p.Lys532Glu)
c.1423A>G (p.Lys475Glu)
c.1420A>G (p.Lys474Glu)
c.1570A>G (p.Lys524Glu)
c.1369A>G (p.Lys457Glu)
10g.69382686A>TCA376909992HK1c.1465A>T (p.Lys489Ter)
c.1381A>T (p.Lys461Ter)
c.1265+2591A>T (n.1265+2591A>T)
c.1075A>T (p.Lys359Ter)
c.*1082A>T (n.*1082A>T)
c.*728A>T (n.*728A>T)
c.1345A>T (p.Lys449Ter)
n.2015A>T
c.1462A>T (p.Lys488Ter)
c.1477A>T (p.Lys493Ter)
c.*1353A>T (n.*1353A>T)
c.1429A>T (p.Lys477Ter)
n.1691A>T
c.1594A>T (p.Lys532Ter)
c.1423A>T (p.Lys475Ter)
c.1420A>T (p.Lys474Ter)
c.1570A>T (p.Lys524Ter)
c.1369A>T (p.Lys457Ter)
10g.69382687A>CCA376909995HK1c.1466A>C (p.Lys489Thr)
c.1382A>C (p.Lys461Thr)
c.1265+2592A>C (n.1265+2592A>C)
c.1076A>C (p.Lys359Thr)
c.*1083A>C (n.*1083A>C)
c.*729A>C (n.*729A>C)
c.1346A>C (p.Lys449Thr)
n.2016A>C
c.1463A>C (p.Lys488Thr)
c.1478A>C (p.Lys493Thr)
c.*1354A>C (n.*1354A>C)
c.1430A>C (p.Lys477Thr)
n.1692A>C
c.1595A>C (p.Lys532Thr)
c.1424A>C (p.Lys475Thr)
c.1421A>C (p.Lys474Thr)
c.1571A>C (p.Lys524Thr)
c.1370A>C (p.Lys457Thr)
10g.69382687A>GCA376909993HK1c.1466A>G (p.Lys489Arg)
c.1382A>G (p.Lys461Arg)
c.1265+2592A>G (n.1265+2592A>G)
c.1076A>G (p.Lys359Arg)
c.*1083A>G (n.*1083A>G)
c.*729A>G (n.*729A>G)
c.1346A>G (p.Lys449Arg)
n.2016A>G
c.1463A>G (p.Lys488Arg)
c.1478A>G (p.Lys493Arg)
c.*1354A>G (n.*1354A>G)
c.1430A>G (p.Lys477Arg)
n.1692A>G
c.1595A>G (p.Lys532Arg)
c.1424A>G (p.Lys475Arg)
c.1421A>G (p.Lys474Arg)
c.1571A>G (p.Lys524Arg)
c.1370A>G (p.Lys457Arg)
 gnomAD v4
10g.69382687A>TCA376909994HK1c.1466A>T (p.Lys489Met)
c.1382A>T (p.Lys461Met)
c.1265+2592A>T (n.1265+2592A>T)
c.1076A>T (p.Lys359Met)
c.*1083A>T (n.*1083A>T)
c.*729A>T (n.*729A>T)
c.1346A>T (p.Lys449Met)
n.2016A>T
c.1463A>T (p.Lys488Met)
c.1478A>T (p.Lys493Met)
c.*1354A>T (n.*1354A>T)
c.1430A>T (p.Lys477Met)
n.1692A>T
c.1595A>T (p.Lys532Met)
c.1424A>T (p.Lys475Met)
c.1421A>T (p.Lys474Met)
c.1571A>T (p.Lys524Met)
c.1370A>T (p.Lys457Met)
10g.69382688G>ACA470276488HK1c.1467G>A (p.Lys489=)
c.1383G>A (p.Lys461=)
c.1265+2593G>A (n.1265+2593G>A)
c.1077G>A (p.Lys359=)
c.*1084G>A (n.*1084G>A)
c.*730G>A (n.*730G>A)
c.1347G>A (p.Lys449=)
n.2017G>A
c.1464G>A (p.Lys488=)
c.1479G>A (p.Lys493=)
c.*1355G>A (n.*1355G>A)
c.1431G>A (p.Lys477=)
n.1693G>A
c.1596G>A (p.Lys532=)
c.1425G>A (p.Lys475=)
c.1422G>A (p.Lys474=)
c.1572G>A (p.Lys524=)
c.1371G>A (p.Lys457=)
10g.69382688G>CCA376909996HK1c.1467G>C (p.Lys489Asn)
c.1383G>C (p.Lys461Asn)
c.1265+2593G>C (n.1265+2593G>C)
c.1077G>C (p.Lys359Asn)
c.*1084G>C (n.*1084G>C)
c.*730G>C (n.*730G>C)
c.1347G>C (p.Lys449Asn)
n.2017G>C
c.1464G>C (p.Lys488Asn)
c.1479G>C (p.Lys493Asn)
c.*1355G>C (n.*1355G>C)
c.1431G>C (p.Lys477Asn)
n.1693G>C
c.1596G>C (p.Lys532Asn)
c.1425G>C (p.Lys475Asn)
c.1422G>C (p.Lys474Asn)
c.1572G>C (p.Lys524Asn)
c.1371G>C (p.Lys457Asn)
10g.69382688G>TCA376909997HK1c.1467G>T (p.Lys489Asn)
c.1383G>T (p.Lys461Asn)
c.1265+2593G>T (n.1265+2593G>T)
c.1077G>T (p.Lys359Asn)
c.*1084G>T (n.*1084G>T)
c.*730G>T (n.*730G>T)
c.1347G>T (p.Lys449Asn)
n.2017G>T
c.1464G>T (p.Lys488Asn)
c.1479G>T (p.Lys493Asn)
c.*1355G>T (n.*1355G>T)
c.1431G>T (p.Lys477Asn)
n.1693G>T
c.1596G>T (p.Lys532Asn)
c.1425G>T (p.Lys475Asn)
c.1422G>T (p.Lys474Asn)
c.1572G>T (p.Lys524Asn)
c.1371G>T (p.Lys457Asn)
10g.69382689A=CA1917772228HK1c.1468A= (p.Arg490=)
c.1384A= (p.Arg462=)
c.1265+2594A= (n.1265+2594A=)
c.1078A= (p.Arg360=)
c.*1085A= (n.*1085A=)
c.*731A= (n.*731A=)
c.1348A= (p.Arg450=)
n.2018A=
c.1465A= (p.Arg489=)
c.1480A= (p.Arg494=)
c.*1356A= (n.*1356A=)
c.1432A= (p.Arg478=)
n.1694A=
c.1597A= (p.Arg533=)
c.1426A= (p.Arg476=)
c.1423A= (p.Arg475=)
c.1573A= (p.Arg525=)
c.1372A= (p.Arg458=)
10g.69382689A>CCA470276490HK1c.1468A>C (p.Arg490=)
c.1384A>C (p.Arg462=)
c.1265+2594A>C (n.1265+2594A>C)
c.1078A>C (p.Arg360=)
c.*1085A>C (n.*1085A>C)
c.*731A>C (n.*731A>C)
c.1348A>C (p.Arg450=)
n.2018A>C
c.1465A>C (p.Arg489=)
c.1480A>C (p.Arg494=)
c.*1356A>C (n.*1356A>C)
c.1432A>C (p.Arg478=)
n.1694A>C
c.1597A>C (p.Arg533=)
c.1426A>C (p.Arg476=)
c.1423A>C (p.Arg475=)
c.1573A>C (p.Arg525=)
c.1372A>C (p.Arg458=)
10g.69382689A>GCA376909998HK1c.1468A>G (p.Arg490Gly)
c.1384A>G (p.Arg462Gly)
c.1265+2594A>G (n.1265+2594A>G)
c.1078A>G (p.Arg360Gly)
c.*1085A>G (n.*1085A>G)
c.*731A>G (n.*731A>G)
c.1348A>G (p.Arg450Gly)
n.2018A>G
c.1465A>G (p.Arg489Gly)
c.1480A>G (p.Arg494Gly)
c.*1356A>G (n.*1356A>G)
c.1432A>G (p.Arg478Gly)
n.1694A>G
c.1597A>G (p.Arg533Gly)
c.1426A>G (p.Arg476Gly)
c.1423A>G (p.Arg475Gly)
c.1573A>G (p.Arg525Gly)
c.1372A>G (p.Arg458Gly)
 dbSNP gnomAD v4
10g.69382689A>TCA376909999HK1c.1468A>T (p.Arg490Trp)
c.1384A>T (p.Arg462Trp)
c.1265+2594A>T (n.1265+2594A>T)
c.1078A>T (p.Arg360Trp)
c.*1085A>T (n.*1085A>T)
c.*731A>T (n.*731A>T)
c.1348A>T (p.Arg450Trp)
n.2018A>T
c.1465A>T (p.Arg489Trp)
c.1480A>T (p.Arg494Trp)
c.*1356A>T (n.*1356A>T)
c.1432A>T (p.Arg478Trp)
n.1694A>T
c.1597A>T (p.Arg533Trp)
c.1426A>T (p.Arg476Trp)
c.1423A>T (p.Arg475Trp)
c.1573A>T (p.Arg525Trp)
c.1372A>T (p.Arg458Trp)
10g.69382690G>ACA376910000HK1c.1469G>A (p.Arg490Lys)
c.1385G>A (p.Arg462Lys)
c.1265+2595G>A (n.1265+2595G>A)
c.1079G>A (p.Arg360Lys)
c.*1086G>A (n.*1086G>A)
c.*732G>A (n.*732G>A)
c.1349G>A (p.Arg450Lys)
n.2019G>A
c.1466G>A (p.Arg489Lys)
c.1481G>A (p.Arg494Lys)
c.*1357G>A (n.*1357G>A)
c.1433G>A (p.Arg478Lys)
n.1695G>A
c.1598G>A (p.Arg533Lys)
c.1427G>A (p.Arg476Lys)
c.1424G>A (p.Arg475Lys)
c.1574G>A (p.Arg525Lys)
c.1373G>A (p.Arg458Lys)
 dbSNP gnomAD v2 gnomAD v4
10g.69382690G>CCA376910001HK1c.1469G>C (p.Arg490Thr)
c.1385G>C (p.Arg462Thr)
c.1265+2595G>C (n.1265+2595G>C)
c.1079G>C (p.Arg360Thr)
c.*1086G>C (n.*1086G>C)
c.*732G>C (n.*732G>C)
c.1349G>C (p.Arg450Thr)
n.2019G>C
c.1466G>C (p.Arg489Thr)
c.1481G>C (p.Arg494Thr)
c.*1357G>C (n.*1357G>C)
c.1433G>C (p.Arg478Thr)
n.1695G>C
c.1598G>C (p.Arg533Thr)
c.1427G>C (p.Arg476Thr)
c.1424G>C (p.Arg475Thr)
c.1574G>C (p.Arg525Thr)
c.1373G>C (p.Arg458Thr)
10g.69382690G=CA1917772232HK1c.1469G= (p.Arg490=)
c.1385G= (p.Arg462=)
c.1265+2595G= (n.1265+2595G=)
c.1079G= (p.Arg360=)
c.*1086G= (n.*1086G=)
c.*732G= (n.*732G=)
c.1349G= (p.Arg450=)
n.2019G=
c.1466G= (p.Arg489=)
c.1481G= (p.Arg494=)
c.*1357G= (n.*1357G=)
c.1433G= (p.Arg478=)
n.1695G=
c.1598G= (p.Arg533=)
c.1427G= (p.Arg476=)
c.1424G= (p.Arg475=)
c.1574G= (p.Arg525=)
c.1373G= (p.Arg458=)
10g.69382690G>TCA376910002HK1c.1469G>T (p.Arg490Met)
c.1385G>T (p.Arg462Met)
c.1265+2595G>T (n.1265+2595G>T)
c.1079G>T (p.Arg360Met)
c.*1086G>T (n.*1086G>T)
c.*732G>T (n.*732G>T)
c.1349G>T (p.Arg450Met)
n.2019G>T
c.1466G>T (p.Arg489Met)
c.1481G>T (p.Arg494Met)
c.*1357G>T (n.*1357G>T)
c.1433G>T (p.Arg478Met)
n.1695G>T
c.1598G>T (p.Arg533Met)
c.1427G>T (p.Arg476Met)
c.1424G>T (p.Arg475Met)
c.1574G>T (p.Arg525Met)
c.1373G>T (p.Arg458Met)
10g.69382691G>ACA470276494HK1c.1470G>A (p.Arg490=)
c.1386G>A (p.Arg462=)
c.1265+2596G>A (n.1265+2596G>A)
c.1080G>A (p.Arg360=)
c.*1087G>A (n.*1087G>A)
c.*733G>A (n.*733G>A)
c.1350G>A (p.Arg450=)
n.2020G>A
c.1467G>A (p.Arg489=)
c.1482G>A (p.Arg494=)
c.*1358G>A (n.*1358G>A)
c.1434G>A (p.Arg478=)
n.1696G>A
c.1599G>A (p.Arg533=)
c.1428G>A (p.Arg476=)
c.1425G>A (p.Arg475=)
c.1575G>A (p.Arg525=)
c.1374G>A (p.Arg458=)
10g.69382691G>CCA376910003HK1c.1470G>C (p.Arg490Ser)
c.1386G>C (p.Arg462Ser)
c.1265+2596G>C (n.1265+2596G>C)
c.1080G>C (p.Arg360Ser)
c.*1087G>C (n.*1087G>C)
c.*733G>C (n.*733G>C)
c.1350G>C (p.Arg450Ser)
n.2020G>C
c.1467G>C (p.Arg489Ser)
c.1482G>C (p.Arg494Ser)
c.*1358G>C (n.*1358G>C)
c.1434G>C (p.Arg478Ser)
n.1696G>C
c.1599G>C (p.Arg533Ser)
c.1428G>C (p.Arg476Ser)
c.1425G>C (p.Arg475Ser)
c.1575G>C (p.Arg525Ser)
c.1374G>C (p.Arg458Ser)
10g.69382691G>TCA376910004HK1c.1470G>T (p.Arg490Ser)
c.1386G>T (p.Arg462Ser)
c.1265+2596G>T (n.1265+2596G>T)
c.1080G>T (p.Arg360Ser)
c.*1087G>T (n.*1087G>T)
c.*733G>T (n.*733G>T)
c.1350G>T (p.Arg450Ser)
n.2020G>T
c.1467G>T (p.Arg489Ser)
c.1482G>T (p.Arg494Ser)
c.*1358G>T (n.*1358G>T)
c.1434G>T (p.Arg478Ser)
n.1696G>T
c.1599G>T (p.Arg533Ser)
c.1428G>T (p.Arg476Ser)
c.1425G>T (p.Arg475Ser)
c.1575G>T (p.Arg525Ser)
c.1374G>T (p.Arg458Ser)
 dbSNP
10g.69382692A>CCA376910005HK1c.1471A>C (p.Met491Leu)
c.1387A>C (p.Met463Leu)
c.1265+2597A>C (n.1265+2597A>C)
c.1081A>C (p.Met361Leu)
c.*1088A>C (n.*1088A>C)
c.*734A>C (n.*734A>C)
c.1351A>C (p.Met451Leu)
n.2021A>C
c.1468A>C (p.Met490Leu)
c.1483A>C (p.Met495Leu)
c.*1359A>C (n.*1359A>C)
c.1435A>C (p.Met479Leu)
n.1697A>C
c.1600A>C (p.Met534Leu)
c.1429A>C (p.Met477Leu)
c.1426A>C (p.Met476Leu)
c.1576A>C (p.Met526Leu)
c.1375A>C (p.Met459Leu)
10g.69382692A>GCA376910006HK1c.1471A>G (p.Met491Val)
c.1387A>G (p.Met463Val)
c.1265+2597A>G (n.1265+2597A>G)
c.1081A>G (p.Met361Val)
c.*1088A>G (n.*1088A>G)
c.*734A>G (n.*734A>G)
c.1351A>G (p.Met451Val)
n.2021A>G
c.1468A>G (p.Met490Val)
c.1483A>G (p.Met495Val)
c.*1359A>G (n.*1359A>G)
c.1435A>G (p.Met479Val)
n.1697A>G
c.1600A>G (p.Met534Val)
c.1429A>G (p.Met477Val)
c.1426A>G (p.Met476Val)
c.1576A>G (p.Met526Val)
c.1375A>G (p.Met459Val)
10g.69382692A>TCA376910007HK1c.1471A>T (p.Met491Leu)
c.1387A>T (p.Met463Leu)
c.1265+2597A>T (n.1265+2597A>T)
c.1081A>T (p.Met361Leu)
c.*1088A>T (n.*1088A>T)
c.*734A>T (n.*734A>T)
c.1351A>T (p.Met451Leu)
n.2021A>T
c.1468A>T (p.Met490Leu)
c.1483A>T (p.Met495Leu)
c.*1359A>T (n.*1359A>T)
c.1435A>T (p.Met479Leu)
n.1697A>T
c.1600A>T (p.Met534Leu)
c.1429A>T (p.Met477Leu)
c.1426A>T (p.Met476Leu)
c.1576A>T (p.Met526Leu)
c.1375A>T (p.Met459Leu)
 gnomAD v4
10g.69382693T>ACA376910009HK1c.1472T>A (p.Met491Lys)
c.1388T>A (p.Met463Lys)
c.1265+2598T>A (n.1265+2598T>A)
c.1082T>A (p.Met361Lys)
c.*1089T>A (n.*1089T>A)
c.*735T>A (n.*735T>A)
c.1352T>A (p.Met451Lys)
n.2022T>A
c.1469T>A (p.Met490Lys)
c.1484T>A (p.Met495Lys)
c.*1360T>A (n.*1360T>A)
c.1436T>A (p.Met479Lys)
n.1698T>A
c.1601T>A (p.Met534Lys)
c.1430T>A (p.Met477Lys)
c.1427T>A (p.Met476Lys)
c.1577T>A (p.Met526Lys)
c.1376T>A (p.Met459Lys)
10g.69382693T>CCA376910010HK1c.1472T>C (p.Met491Thr)
c.1388T>C (p.Met463Thr)
c.1265+2598T>C (n.1265+2598T>C)
c.1082T>C (p.Met361Thr)
c.*1089T>C (n.*1089T>C)
c.*735T>C (n.*735T>C)
c.1352T>C (p.Met451Thr)
n.2022T>C
c.1469T>C (p.Met490Thr)
c.1484T>C (p.Met495Thr)
c.*1360T>C (n.*1360T>C)
c.1436T>C (p.Met479Thr)
n.1698T>C
c.1601T>C (p.Met534Thr)
c.1430T>C (p.Met477Thr)
c.1427T>C (p.Met476Thr)
c.1577T>C (p.Met526Thr)
c.1376T>C (p.Met459Thr)
10g.69382693T>GCA376910008HK1c.1472T>G (p.Met491Arg)
c.1388T>G (p.Met463Arg)
c.1265+2598T>G (n.1265+2598T>G)
c.1082T>G (p.Met361Arg)
c.*1089T>G (n.*1089T>G)
c.*735T>G (n.*735T>G)
c.1352T>G (p.Met451Arg)
n.2022T>G
c.1469T>G (p.Met490Arg)
c.1484T>G (p.Met495Arg)
c.*1360T>G (n.*1360T>G)
c.1436T>G (p.Met479Arg)
n.1698T>G
c.1601T>G (p.Met534Arg)
c.1430T>G (p.Met477Arg)
c.1427T>G (p.Met476Arg)
c.1577T>G (p.Met526Arg)
c.1376T>G (p.Met459Arg)
10g.69382694G>ACA376910013HK1c.1473G>A (p.Met491Ile)
c.1389G>A (p.Met463Ile)
c.1265+2599G>A (n.1265+2599G>A)
c.1083G>A (p.Met361Ile)
c.*1090G>A (n.*1090G>A)
c.*736G>A (n.*736G>A)
c.1353G>A (p.Met451Ile)
n.2023G>A
c.1470G>A (p.Met490Ile)
c.1485G>A (p.Met495Ile)
c.*1361G>A (n.*1361G>A)
c.1437G>A (p.Met479Ile)
n.1699G>A
c.1602G>A (p.Met534Ile)
c.1431G>A (p.Met477Ile)
c.1428G>A (p.Met476Ile)
c.1578G>A (p.Met526Ile)
c.1377G>A (p.Met459Ile)
10g.69382694G>CCA376910011HK1c.1473G>C (p.Met491Ile)
c.1389G>C (p.Met463Ile)
c.1265+2599G>C (n.1265+2599G>C)
c.1083G>C (p.Met361Ile)
c.*1090G>C (n.*1090G>C)
c.*736G>C (n.*736G>C)
c.1353G>C (p.Met451Ile)
n.2023G>C
c.1470G>C (p.Met490Ile)
c.1485G>C (p.Met495Ile)
c.*1361G>C (n.*1361G>C)
c.1437G>C (p.Met479Ile)
n.1699G>C
c.1602G>C (p.Met534Ile)
c.1431G>C (p.Met477Ile)
c.1428G>C (p.Met476Ile)
c.1578G>C (p.Met526Ile)
c.1377G>C (p.Met459Ile)
10g.69382694G>TCA376910012HK1c.1473G>T (p.Met491Ile)
c.1389G>T (p.Met463Ile)
c.1265+2599G>T (n.1265+2599G>T)
c.1083G>T (p.Met361Ile)
c.*1090G>T (n.*1090G>T)
c.*736G>T (n.*736G>T)
c.1353G>T (p.Met451Ile)
n.2023G>T
c.1470G>T (p.Met490Ile)
c.1485G>T (p.Met495Ile)
c.*1361G>T (n.*1361G>T)
c.1437G>T (p.Met479Ile)
n.1699G>T
c.1602G>T (p.Met534Ile)
c.1431G>T (p.Met477Ile)
c.1428G>T (p.Met476Ile)
c.1578G>T (p.Met526Ile)
c.1377G>T (p.Met459Ile)
 gnomAD v4
10g.69382695C>ACA470276502HK1c.1474C>A (p.Arg492=)
c.1390C>A (p.Arg464=)
c.1265+2600C>A (n.1265+2600C>A)
c.1084C>A (p.Arg362=)
c.*1091C>A (n.*1091C>A)
c.*737C>A (n.*737C>A)
c.1354C>A (p.Arg452=)
n.2024C>A
c.1471C>A (p.Arg491=)
c.1486C>A (p.Arg496=)
c.*1362C>A (n.*1362C>A)
c.1438C>A (p.Arg480=)
n.1700C>A
c.1603C>A (p.Arg535=)
c.1432C>A (p.Arg478=)
c.1429C>A (p.Arg477=)
c.1579C>A (p.Arg527=)
c.1378C>A (p.Arg460=)
 gnomAD v4
10g.69382695C=CA1917772236HK1c.1474C= (p.Arg492=)
c.1390C= (p.Arg464=)
c.1265+2600C= (n.1265+2600C=)
c.1084C= (p.Arg362=)
c.*1091C= (n.*1091C=)
c.*737C= (n.*737C=)
c.1354C= (p.Arg452=)
n.2024C=
c.1471C= (p.Arg491=)
c.1486C= (p.Arg496=)
c.*1362C= (n.*1362C=)
c.1438C= (p.Arg480=)
n.1700C=
c.1603C= (p.Arg535=)
c.1432C= (p.Arg478=)
c.1429C= (p.Arg477=)
c.1579C= (p.Arg527=)
c.1378C= (p.Arg460=)
10g.69382695C>GCA376910014HK1c.1474C>G (p.Arg492Gly)
c.1390C>G (p.Arg464Gly)
c.1265+2600C>G (n.1265+2600C>G)
c.1084C>G (p.Arg362Gly)
c.*1091C>G (n.*1091C>G)
c.*737C>G (n.*737C>G)
c.1354C>G (p.Arg452Gly)
n.2024C>G
c.1471C>G (p.Arg491Gly)
c.1486C>G (p.Arg496Gly)
c.*1362C>G (n.*1362C>G)
c.1438C>G (p.Arg480Gly)
n.1700C>G
c.1603C>G (p.Arg535Gly)
c.1432C>G (p.Arg478Gly)
c.1429C>G (p.Arg477Gly)
c.1579C>G (p.Arg527Gly)
c.1378C>G (p.Arg460Gly)
10g.69382695C>TCA5532606HK1c.1474C>T (p.Arg492Trp)
c.1390C>T (p.Arg464Trp)
c.1265+2600C>T (n.1265+2600C>T)
c.1084C>T (p.Arg362Trp)
c.*1091C>T (n.*1091C>T)
c.*737C>T (n.*737C>T)
c.1354C>T (p.Arg452Trp)
n.2024C>T
c.1471C>T (p.Arg491Trp)
c.1486C>T (p.Arg496Trp)
c.*1362C>T (n.*1362C>T)
c.1438C>T (p.Arg480Trp)
n.1700C>T
c.1603C>T (p.Arg535Trp)
c.1432C>T (p.Arg478Trp)
c.1429C>T (p.Arg477Trp)
c.1579C>T (p.Arg527Trp)
c.1378C>T (p.Arg460Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.69382696G>ACA5532607HK1c.1475G>A (p.Arg492Gln)
c.1391G>A (p.Arg464Gln)
c.1265+2601G>A (n.1265+2601G>A)
c.1085G>A (p.Arg362Gln)
c.*1092G>A (n.*1092G>A)
c.*738G>A (n.*738G>A)
c.1355G>A (p.Arg452Gln)
n.2025G>A
c.1472G>A (p.Arg491Gln)
c.1487G>A (p.Arg496Gln)
c.*1363G>A (n.*1363G>A)
c.1439G>A (p.Arg480Gln)
n.1701G>A
c.1604G>A (p.Arg535Gln)
c.1433G>A (p.Arg478Gln)
c.1430G>A (p.Arg477Gln)
c.1580G>A (p.Arg527Gln)
c.1379G>A (p.Arg460Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
10g.69382696G>CCA5532608HK1c.1475G>C (p.Arg492Pro)
c.1391G>C (p.Arg464Pro)
c.1265+2601G>C (n.1265+2601G>C)
c.1085G>C (p.Arg362Pro)
c.*1092G>C (n.*1092G>C)
c.*738G>C (n.*738G>C)
c.1355G>C (p.Arg452Pro)
n.2025G>C
c.1472G>C (p.Arg491Pro)
c.1487G>C (p.Arg496Pro)
c.*1363G>C (n.*1363G>C)
c.1439G>C (p.Arg480Pro)
n.1701G>C
c.1604G>C (p.Arg535Pro)
c.1433G>C (p.Arg478Pro)
c.1430G>C (p.Arg477Pro)
c.1580G>C (p.Arg527Pro)
c.1379G>C (p.Arg460Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.69382696G=CA1917772241HK1c.1475G= (p.Arg492=)
c.1391G= (p.Arg464=)
c.1265+2601G= (n.1265+2601G=)
c.1085G= (p.Arg362=)
c.*1092G= (n.*1092G=)
c.*738G= (n.*738G=)
c.1355G= (p.Arg452=)
n.2025G=
c.1472G= (p.Arg491=)
c.1487G= (p.Arg496=)
c.*1363G= (n.*1363G=)
c.1439G= (p.Arg480=)
n.1701G=
c.1604G= (p.Arg535=)
c.1433G= (p.Arg478=)
c.1430G= (p.Arg477=)
c.1580G= (p.Arg527=)
c.1379G= (p.Arg460=)
10g.69382696G>TCA376910015HK1c.1475G>T (p.Arg492Leu)
c.1391G>T (p.Arg464Leu)
c.1265+2601G>T (n.1265+2601G>T)
c.1085G>T (p.Arg362Leu)
c.*1092G>T (n.*1092G>T)
c.*738G>T (n.*738G>T)
c.1355G>T (p.Arg452Leu)
n.2025G>T
c.1472G>T (p.Arg491Leu)
c.1487G>T (p.Arg496Leu)
c.*1363G>T (n.*1363G>T)
c.1439G>T (p.Arg480Leu)
n.1701G>T
c.1604G>T (p.Arg535Leu)
c.1433G>T (p.Arg478Leu)
c.1430G>T (p.Arg477Leu)
c.1580G>T (p.Arg527Leu)
c.1379G>T (p.Arg460Leu)
10g.69382697G>ACA470276510HK1c.1476G>A (p.Arg492=)
c.1392G>A (p.Arg464=)
c.1265+2602G>A (n.1265+2602G>A)
c.1086G>A (p.Arg362=)
c.*1093G>A (n.*1093G>A)
c.*739G>A (n.*739G>A)
c.1356G>A (p.Arg452=)
n.2026G>A
c.1473G>A (p.Arg491=)
c.1488G>A (p.Arg496=)
c.*1364G>A (n.*1364G>A)
c.1440G>A (p.Arg480=)
n.1702G>A
c.1605G>A (p.Arg535=)
c.1434G>A (p.Arg478=)
c.1431G>A (p.Arg477=)
c.1581G>A (p.Arg527=)
c.1380G>A (p.Arg460=)
 dbSNP
10g.69382697G>CCA470276511HK1c.1476G>C (p.Arg492=)
c.1392G>C (p.Arg464=)
c.1265+2602G>C (n.1265+2602G>C)
c.1086G>C (p.Arg362=)
c.*1093G>C (n.*1093G>C)
c.*739G>C (n.*739G>C)
c.1356G>C (p.Arg452=)
n.2026G>C
c.1473G>C (p.Arg491=)
c.1488G>C (p.Arg496=)
c.*1364G>C (n.*1364G>C)
c.1440G>C (p.Arg480=)
n.1702G>C
c.1605G>C (p.Arg535=)
c.1434G>C (p.Arg478=)
c.1431G>C (p.Arg477=)
c.1581G>C (p.Arg527=)
c.1380G>C (p.Arg460=)
10g.69382697G=CA1917772245HK1c.1476G= (p.Arg492=)
c.1392G= (p.Arg464=)
c.1265+2602G= (n.1265+2602G=)
c.1086G= (p.Arg362=)
c.*1093G= (n.*1093G=)
c.*739G= (n.*739G=)
c.1356G= (p.Arg452=)
n.2026G=
c.1473G= (p.Arg491=)
c.1488G= (p.Arg496=)
c.*1364G= (n.*1364G=)
c.1440G= (p.Arg480=)
n.1702G=
c.1605G= (p.Arg535=)
c.1434G= (p.Arg478=)
c.1431G= (p.Arg477=)
c.1581G= (p.Arg527=)
c.1380G= (p.Arg460=)
10g.69382697G>TCA470276512HK1c.1476G>T (p.Arg492=)
c.1392G>T (p.Arg464=)
c.1265+2602G>T (n.1265+2602G>T)
c.1086G>T (p.Arg362=)
c.*1093G>T (n.*1093G>T)
c.*739G>T (n.*739G>T)
c.1356G>T (p.Arg452=)
n.2026G>T
c.1473G>T (p.Arg491=)
c.1488G>T (p.Arg496=)
c.*1364G>T (n.*1364G>T)
c.1440G>T (p.Arg480=)
n.1702G>T
c.1605G>T (p.Arg535=)
c.1434G>T (p.Arg478=)
c.1431G>T (p.Arg477=)
c.1581G>T (p.Arg527=)
c.1380G>T (p.Arg460=)
10g.69382698G>ACA376910016HK1c.1477G>A (p.Ala493Thr)
c.1393G>A (p.Ala465Thr)
c.1265+2603G>A (n.1265+2603G>A)
c.1087G>A (p.Ala363Thr)
c.*1094G>A (n.*1094G>A)
c.*740G>A (n.*740G>A)
c.1357G>A (p.Ala453Thr)
n.2027G>A
c.1474G>A (p.Ala492Thr)
c.1489G>A (p.Ala497Thr)
c.*1365G>A (n.*1365G>A)
c.1441G>A (p.Ala481Thr)
n.1703G>A
c.1606G>A (p.Ala536Thr)
c.1435G>A (p.Ala479Thr)
c.1432G>A (p.Ala478Thr)
c.1582G>A (p.Ala528Thr)
c.1381G>A (p.Ala461Thr)
10g.69382698G>CCA376910018HK1c.1477G>C (p.Ala493Pro)
c.1393G>C (p.Ala465Pro)
c.1265+2603G>C (n.1265+2603G>C)
c.1087G>C (p.Ala363Pro)
c.*1094G>C (n.*1094G>C)
c.*740G>C (n.*740G>C)
c.1357G>C (p.Ala453Pro)
n.2027G>C
c.1474G>C (p.Ala492Pro)
c.1489G>C (p.Ala497Pro)
c.*1365G>C (n.*1365G>C)
c.1441G>C (p.Ala481Pro)
n.1703G>C
c.1606G>C (p.Ala536Pro)
c.1435G>C (p.Ala479Pro)
c.1432G>C (p.Ala478Pro)
c.1582G>C (p.Ala528Pro)
c.1381G>C (p.Ala461Pro)
10g.69382698G>TCA376910017HK1c.1477G>T (p.Ala493Ser)
c.1393G>T (p.Ala465Ser)
c.1265+2603G>T (n.1265+2603G>T)
c.1087G>T (p.Ala363Ser)
c.*1094G>T (n.*1094G>T)
c.*740G>T (n.*740G>T)
c.1357G>T (p.Ala453Ser)
n.2027G>T
c.1474G>T (p.Ala492Ser)
c.1489G>T (p.Ala497Ser)
c.*1365G>T (n.*1365G>T)
c.1441G>T (p.Ala481Ser)
n.1703G>T
c.1606G>T (p.Ala536Ser)
c.1435G>T (p.Ala479Ser)
c.1432G>T (p.Ala478Ser)
c.1582G>T (p.Ala528Ser)
c.1381G>T (p.Ala461Ser)
 gnomAD v4
10g.69382699C>ACA376910019HK1c.1478C>A (p.Ala493Asp)
c.1394C>A (p.Ala465Asp)
c.1265+2604C>A (n.1265+2604C>A)
c.1088C>A (p.Ala363Asp)
c.*1095C>A (n.*1095C>A)
c.*741C>A (n.*741C>A)
c.1358C>A (p.Ala453Asp)
n.2028C>A
c.1475C>A (p.Ala492Asp)
c.1490C>A (p.Ala497Asp)
c.*1366C>A (n.*1366C>A)
c.1442C>A (p.Ala481Asp)
n.1704C>A
c.1607C>A (p.Ala536Asp)
c.1436C>A (p.Ala479Asp)
c.1433C>A (p.Ala478Asp)
c.1583C>A (p.Ala528Asp)
c.1382C>A (p.Ala461Asp)
10g.69382699C>GCA376910020HK1c.1478C>G (p.Ala493Gly)
c.1394C>G (p.Ala465Gly)
c.1265+2604C>G (n.1265+2604C>G)
c.1088C>G (p.Ala363Gly)
c.*1095C>G (n.*1095C>G)
c.*741C>G (n.*741C>G)
c.1358C>G (p.Ala453Gly)
n.2028C>G
c.1475C>G (p.Ala492Gly)
c.1490C>G (p.Ala497Gly)
c.*1366C>G (n.*1366C>G)
c.1442C>G (p.Ala481Gly)
n.1704C>G
c.1607C>G (p.Ala536Gly)
c.1436C>G (p.Ala479Gly)
c.1433C>G (p.Ala478Gly)
c.1583C>G (p.Ala528Gly)
c.1382C>G (p.Ala461Gly)
10g.69382699C>TCA376910021HK1c.1478C>T (p.Ala493Val)
c.1394C>T (p.Ala465Val)
c.1265+2604C>T (n.1265+2604C>T)
c.1088C>T (p.Ala363Val)
c.*1095C>T (n.*1095C>T)
c.*741C>T (n.*741C>T)
c.1358C>T (p.Ala453Val)
n.2028C>T
c.1475C>T (p.Ala492Val)
c.1490C>T (p.Ala497Val)
c.*1366C>T (n.*1366C>T)
c.1442C>T (p.Ala481Val)
n.1704C>T
c.1607C>T (p.Ala536Val)
c.1436C>T (p.Ala479Val)
c.1433C>T (p.Ala478Val)
c.1583C>T (p.Ala528Val)
c.1382C>T (p.Ala461Val)
 gnomAD v4
10g.69382700C>ACA470276523HK1c.1479C>A (p.Ala493=)
c.1395C>A (p.Ala465=)
c.1265+2605C>A (n.1265+2605C>A)
c.1089C>A (p.Ala363=)
c.*1096C>A (n.*1096C>A)
c.*742C>A (n.*742C>A)
c.1359C>A (p.Ala453=)
n.2029C>A
c.1476C>A (p.Ala492=)
c.1491C>A (p.Ala497=)
c.*1367C>A (n.*1367C>A)
c.1443C>A (p.Ala481=)
n.1705C>A
c.1608C>A (p.Ala536=)
c.1437C>A (p.Ala479=)
c.1434C>A (p.Ala478=)
c.1584C>A (p.Ala528=)
c.1383C>A (p.Ala461=)
 gnomAD v3 gnomAD v4
10g.69382700C=CA1917772250HK1c.1479C= (p.Ala493=)
c.1395C= (p.Ala465=)
c.1265+2605C= (n.1265+2605C=)
c.1089C= (p.Ala363=)
c.*1096C= (n.*1096C=)
c.*742C= (n.*742C=)
c.1359C= (p.Ala453=)
n.2029C=
c.1476C= (p.Ala492=)
c.1491C= (p.Ala497=)
c.*1367C= (n.*1367C=)
c.1443C= (p.Ala481=)
n.1705C=
c.1608C= (p.Ala536=)
c.1437C= (p.Ala479=)
c.1434C= (p.Ala478=)
c.1584C= (p.Ala528=)
c.1383C= (p.Ala461=)
10g.69382700C>GCA470276524HK1c.1479C>G (p.Ala493=)
c.1395C>G (p.Ala465=)
c.1265+2605C>G (n.1265+2605C>G)
c.1089C>G (p.Ala363=)
c.*1096C>G (n.*1096C>G)
c.*742C>G (n.*742C>G)
c.1359C>G (p.Ala453=)
n.2029C>G
c.1476C>G (p.Ala492=)
c.1491C>G (p.Ala497=)
c.*1367C>G (n.*1367C>G)
c.1443C>G (p.Ala481=)
n.1705C>G
c.1608C>G (p.Ala536=)
c.1437C>G (p.Ala479=)
c.1434C>G (p.Ala478=)
c.1584C>G (p.Ala528=)
c.1383C>G (p.Ala461=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.69382700C>TCA5532609HK1c.1479C>T (p.Ala493=)
c.1395C>T (p.Ala465=)
c.1265+2605C>T (n.1265+2605C>T)
c.1089C>T (p.Ala363=)
c.*1096C>T (n.*1096C>T)
c.*742C>T (n.*742C>T)
c.1359C>T (p.Ala453=)
n.2029C>T
c.1476C>T (p.Ala492=)
c.1491C>T (p.Ala497=)
c.*1367C>T (n.*1367C>T)
c.1443C>T (p.Ala481=)
n.1705C>T
c.1608C>T (p.Ala536=)
c.1437C>T (p.Ala479=)
c.1434C>T (p.Ala478=)
c.1584C>T (p.Ala528=)
c.1383C>T (p.Ala461=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.69382701G>ACA376910022HK1c.1480G>A (p.Glu494Lys)
c.1396G>A (p.Glu466Lys)
c.1265+2606G>A (n.1265+2606G>A)
c.1090G>A (p.Glu364Lys)
c.*1097G>A (n.*1097G>A)
c.*743G>A (n.*743G>A)
c.1360G>A (p.Glu454Lys)
n.2030G>A
c.1477G>A (p.Glu493Lys)
c.1492G>A (p.Glu498Lys)
c.*1368G>A (n.*1368G>A)
c.1444G>A (p.Glu482Lys)
n.1706G>A
c.1609G>A (p.Glu537Lys)
c.1438G>A (p.Glu480Lys)
c.1435G>A (p.Glu479Lys)
c.1585G>A (p.Glu529Lys)
c.1384G>A (p.Glu462Lys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
10g.69382701G>CCA376910024HK1c.1480G>C (p.Glu494Gln)
c.1396G>C (p.Glu466Gln)
c.1265+2606G>C (n.1265+2606G>C)
c.1090G>C (p.Glu364Gln)
c.*1097G>C (n.*1097G>C)
c.*743G>C (n.*743G>C)
c.1360G>C (p.Glu454Gln)
n.2030G>C
c.1477G>C (p.Glu493Gln)
c.1492G>C (p.Glu498Gln)
c.*1368G>C (n.*1368G>C)
c.1444G>C (p.Glu482Gln)
n.1706G>C
c.1609G>C (p.Glu537Gln)
c.1438G>C (p.Glu480Gln)
c.1435G>C (p.Glu479Gln)
c.1585G>C (p.Glu529Gln)
c.1384G>C (p.Glu462Gln)
10g.69382701G=CA1917772255HK1c.1480G= (p.Glu494=)
c.1396G= (p.Glu466=)
c.1265+2606G= (n.1265+2606G=)
c.1090G= (p.Glu364=)
c.*1097G= (n.*1097G=)
c.*743G= (n.*743G=)
c.1360G= (p.Glu454=)
n.2030G=
c.1477G= (p.Glu493=)
c.1492G= (p.Glu498=)
c.*1368G= (n.*1368G=)
c.1444G= (p.Glu482=)
n.1706G=
c.1609G= (p.Glu537=)
c.1438G= (p.Glu480=)
c.1435G= (p.Glu479=)
c.1585G= (p.Glu529=)
c.1384G= (p.Glu462=)
10g.69382701G>TCA376910023HK1c.1480G>T (p.Glu494Ter)
c.1396G>T (p.Glu466Ter)
c.1265+2606G>T (n.1265+2606G>T)
c.1090G>T (p.Glu364Ter)
c.*1097G>T (n.*1097G>T)
c.*743G>T (n.*743G>T)
c.1360G>T (p.Glu454Ter)
n.2030G>T
c.1477G>T (p.Glu493Ter)
c.1492G>T (p.Glu498Ter)
c.*1368G>T (n.*1368G>T)
c.1444G>T (p.Glu482Ter)
n.1706G>T
c.1609G>T (p.Glu537Ter)
c.1438G>T (p.Glu480Ter)
c.1435G>T (p.Glu479Ter)
c.1585G>T (p.Glu529Ter)
c.1384G>T (p.Glu462Ter)
10g.69382702A>CCA376910025HK1c.1481A>C (p.Glu494Ala)
c.1397A>C (p.Glu466Ala)
c.1265+2607A>C (n.1265+2607A>C)
c.1091A>C (p.Glu364Ala)
c.*1098A>C (n.*1098A>C)
c.*744A>C (n.*744A>C)
c.1361A>C (p.Glu454Ala)
n.2031A>C
c.1478A>C (p.Glu493Ala)
c.1493A>C (p.Glu498Ala)
c.*1369A>C (n.*1369A>C)
c.1445A>C (p.Glu482Ala)
n.1707A>C
c.1610A>C (p.Glu537Ala)
c.1439A>C (p.Glu480Ala)
c.1436A>C (p.Glu479Ala)
c.1586A>C (p.Glu529Ala)
c.1385A>C (p.Glu462Ala)
10g.69382702A>GCA376910026HK1c.1481A>G (p.Glu494Gly)
c.1397A>G (p.Glu466Gly)
c.1265+2607A>G (n.1265+2607A>G)
c.1091A>G (p.Glu364Gly)
c.*1098A>G (n.*1098A>G)
c.*744A>G (n.*744A>G)
c.1361A>G (p.Glu454Gly)
n.2031A>G
c.1478A>G (p.Glu493Gly)
c.1493A>G (p.Glu498Gly)
c.*1369A>G (n.*1369A>G)
c.1445A>G (p.Glu482Gly)
n.1707A>G
c.1610A>G (p.Glu537Gly)
c.1439A>G (p.Glu480Gly)
c.1436A>G (p.Glu479Gly)
c.1586A>G (p.Glu529Gly)
c.1385A>G (p.Glu462Gly)
10g.69382702A>TCA376910027HK1c.1481A>T (p.Glu494Val)
c.1397A>T (p.Glu466Val)
c.1265+2607A>T (n.1265+2607A>T)
c.1091A>T (p.Glu364Val)
c.*1098A>T (n.*1098A>T)
c.*744A>T (n.*744A>T)
c.1361A>T (p.Glu454Val)
n.2031A>T
c.1478A>T (p.Glu493Val)
c.1493A>T (p.Glu498Val)
c.*1369A>T (n.*1369A>T)
c.1445A>T (p.Glu482Val)
n.1707A>T
c.1610A>T (p.Glu537Val)
c.1439A>T (p.Glu480Val)
c.1436A>T (p.Glu479Val)
c.1586A>T (p.Glu529Val)
c.1385A>T (p.Glu462Val)
10g.69382703G>ACA470276533HK1c.1482G>A (p.Glu494=)
c.1398G>A (p.Glu466=)
c.1265+2608G>A (n.1265+2608G>A)
c.1092G>A (p.Glu364=)
c.*1099G>A (n.*1099G>A)
c.*745G>A (n.*745G>A)
c.1362G>A (p.Glu454=)
n.2032G>A
c.1479G>A (p.Glu493=)
c.1494G>A (p.Glu498=)
c.*1370G>A (n.*1370G>A)
c.1446G>A (p.Glu482=)
n.1708G>A
c.1611G>A (p.Glu537=)
c.1440G>A (p.Glu480=)
c.1437G>A (p.Glu479=)
c.1587G>A (p.Glu529=)
c.1386G>A (p.Glu462=)
10g.69382703G>CCA376910028HK1c.1482G>C (p.Glu494Asp)
c.1398G>C (p.Glu466Asp)
c.1265+2608G>C (n.1265+2608G>C)
c.1092G>C (p.Glu364Asp)
c.*1099G>C (n.*1099G>C)
c.*745G>C (n.*745G>C)
c.1362G>C (p.Glu454Asp)
n.2032G>C
c.1479G>C (p.Glu493Asp)
c.1494G>C (p.Glu498Asp)
c.*1370G>C (n.*1370G>C)
c.1446G>C (p.Glu482Asp)
n.1708G>C
c.1611G>C (p.Glu537Asp)
c.1440G>C (p.Glu480Asp)
c.1437G>C (p.Glu479Asp)
c.1587G>C (p.Glu529Asp)
c.1386G>C (p.Glu462Asp)
10g.69382703G>TCA376910029HK1c.1482G>T (p.Glu494Asp)
c.1398G>T (p.Glu466Asp)
c.1265+2608G>T (n.1265+2608G>T)
c.1092G>T (p.Glu364Asp)
c.*1099G>T (n.*1099G>T)
c.*745G>T (n.*745G>T)
c.1362G>T (p.Glu454Asp)
n.2032G>T
c.1479G>T (p.Glu493Asp)
c.1494G>T (p.Glu498Asp)
c.*1370G>T (n.*1370G>T)
c.1446G>T (p.Glu482Asp)
n.1708G>T
c.1611G>T (p.Glu537Asp)
c.1440G>T (p.Glu480Asp)
c.1437G>T (p.Glu479Asp)
c.1587G>T (p.Glu529Asp)
c.1386G>T (p.Glu462Asp)
10g.69382704A=CA1917772257HK1c.1483A= (p.Met495=)
c.1399A= (p.Met467=)
c.1265+2609A= (n.1265+2609A=)
c.1093A= (p.Met365=)
c.*1100A= (n.*1100A=)
c.*746A= (n.*746A=)
c.1363A= (p.Met455=)
n.2033A=
c.1480A= (p.Met494=)
c.1495A= (p.Met499=)
c.*1371A= (n.*1371A=)
c.1447A= (p.Met483=)
n.1709A=
c.1612A= (p.Met538=)
c.1441A= (p.Met481=)
c.1438A= (p.Met480=)
c.1588A= (p.Met530=)
c.1387A= (p.Met463=)
10g.69382704A>CCA376910030HK1c.1483A>C (p.Met495Leu)
c.1399A>C (p.Met467Leu)
c.1265+2609A>C (n.1265+2609A>C)
c.1093A>C (p.Met365Leu)
c.*1100A>C (n.*1100A>C)
c.*746A>C (n.*746A>C)
c.1363A>C (p.Met455Leu)
n.2033A>C
c.1480A>C (p.Met494Leu)
c.1495A>C (p.Met499Leu)
c.*1371A>C (n.*1371A>C)
c.1447A>C (p.Met483Leu)
n.1709A>C
c.1612A>C (p.Met538Leu)
c.1441A>C (p.Met481Leu)
c.1438A>C (p.Met480Leu)
c.1588A>C (p.Met530Leu)
c.1387A>C (p.Met463Leu)
 dbSNP gnomAD v2 gnomAD v4
10g.69382704A>GCA376910031HK1c.1483A>G (p.Met495Val)
c.1399A>G (p.Met467Val)
c.1265+2609A>G (n.1265+2609A>G)
c.1093A>G (p.Met365Val)
c.*1100A>G (n.*1100A>G)
c.*746A>G (n.*746A>G)
c.1363A>G (p.Met455Val)
n.2033A>G
c.1480A>G (p.Met494Val)
c.1495A>G (p.Met499Val)
c.*1371A>G (n.*1371A>G)
c.1447A>G (p.Met483Val)
n.1709A>G
c.1612A>G (p.Met538Val)
c.1441A>G (p.Met481Val)
c.1438A>G (p.Met480Val)
c.1588A>G (p.Met530Val)
c.1387A>G (p.Met463Val)
 dbSNP
10g.69382704A>TCA376910032HK1c.1483A>T (p.Met495Leu)
c.1399A>T (p.Met467Leu)
c.1265+2609A>T (n.1265+2609A>T)
c.1093A>T (p.Met365Leu)
c.*1100A>T (n.*1100A>T)
c.*746A>T (n.*746A>T)
c.1363A>T (p.Met455Leu)
n.2033A>T
c.1480A>T (p.Met494Leu)
c.1495A>T (p.Met499Leu)
c.*1371A>T (n.*1371A>T)
c.1447A>T (p.Met483Leu)
n.1709A>T
c.1612A>T (p.Met538Leu)
c.1441A>T (p.Met481Leu)
c.1438A>T (p.Met480Leu)
c.1588A>T (p.Met530Leu)
c.1387A>T (p.Met463Leu)
10g.69382705T>ACA376910033HK1c.1484T>A (p.Met495Lys)
c.1400T>A (p.Met467Lys)
c.1265+2610T>A (n.1265+2610T>A)
c.1094T>A (p.Met365Lys)
c.*1101T>A (n.*1101T>A)
c.*747T>A (n.*747T>A)
c.1364T>A (p.Met455Lys)
n.2034T>A
c.1481T>A (p.Met494Lys)
c.1496T>A (p.Met499Lys)
c.*1372T>A (n.*1372T>A)
c.1448T>A (p.Met483Lys)
n.1710T>A
c.1613T>A (p.Met538Lys)
c.1442T>A (p.Met481Lys)
c.1439T>A (p.Met480Lys)
c.1589T>A (p.Met530Lys)
c.1388T>A (p.Met463Lys)
10g.69382705T>CCA376910034HK1c.1484T>C (p.Met495Thr)
c.1400T>C (p.Met467Thr)
c.1265+2610T>C (n.1265+2610T>C)
c.1094T>C (p.Met365Thr)
c.*1101T>C (n.*1101T>C)
c.*747T>C (n.*747T>C)
c.1364T>C (p.Met455Thr)
n.2034T>C
c.1481T>C (p.Met494Thr)
c.1496T>C (p.Met499Thr)
c.*1372T>C (n.*1372T>C)
c.1448T>C (p.Met483Thr)
n.1710T>C
c.1613T>C (p.Met538Thr)
c.1442T>C (p.Met481Thr)
c.1439T>C (p.Met480Thr)
c.1589T>C (p.Met530Thr)
c.1388T>C (p.Met463Thr)
 ClinVar
10g.69382705T>GCA376910035HK1c.1484T>G (p.Met495Arg)
c.1400T>G (p.Met467Arg)
c.1265+2610T>G (n.1265+2610T>G)
c.1094T>G (p.Met365Arg)
c.*1101T>G (n.*1101T>G)
c.*747T>G (n.*747T>G)
c.1364T>G (p.Met455Arg)
n.2034T>G
c.1481T>G (p.Met494Arg)
c.1496T>G (p.Met499Arg)
c.*1372T>G (n.*1372T>G)
c.1448T>G (p.Met483Arg)
n.1710T>G
c.1613T>G (p.Met538Arg)
c.1442T>G (p.Met481Arg)
c.1439T>G (p.Met480Arg)
c.1589T>G (p.Met530Arg)
c.1388T>G (p.Met463Arg)
10g.69382706G>ACA376910038HK1c.1485G>A (p.Met495Ile)
c.1401G>A (p.Met467Ile)
c.1265+2611G>A (n.1265+2611G>A)
c.1095G>A (p.Met365Ile)
c.*1102G>A (n.*1102G>A)
c.*748G>A (n.*748G>A)
c.1365G>A (p.Met455Ile)
n.2035G>A
c.1482G>A (p.Met494Ile)
c.1497G>A (p.Met499Ile)
c.*1373G>A (n.*1373G>A)
c.1449G>A (p.Met483Ile)
n.1711G>A
c.1614G>A (p.Met538Ile)
c.1443G>A (p.Met481Ile)
c.1440G>A (p.Met480Ile)
c.1590G>A (p.Met530Ile)
c.1389G>A (p.Met463Ile)
10g.69382706G>CCA376910037HK1c.1485G>C (p.Met495Ile)
c.1401G>C (p.Met467Ile)
c.1265+2611G>C (n.1265+2611G>C)
c.1095G>C (p.Met365Ile)
c.*1102G>C (n.*1102G>C)
c.*748G>C (n.*748G>C)
c.1365G>C (p.Met455Ile)
n.2035G>C
c.1482G>C (p.Met494Ile)
c.1497G>C (p.Met499Ile)
c.*1373G>C (n.*1373G>C)
c.1449G>C (p.Met483Ile)
n.1711G>C
c.1614G>C (p.Met538Ile)
c.1443G>C (p.Met481Ile)
c.1440G>C (p.Met480Ile)
c.1590G>C (p.Met530Ile)
c.1389G>C (p.Met463Ile)
10g.69382706G>TCA376910036HK1c.1485G>T (p.Met495Ile)
c.1401G>T (p.Met467Ile)
c.1265+2611G>T (n.1265+2611G>T)
c.1095G>T (p.Met365Ile)
c.*1102G>T (n.*1102G>T)
c.*748G>T (n.*748G>T)
c.1365G>T (p.Met455Ile)
n.2035G>T
c.1482G>T (p.Met494Ile)
c.1497G>T (p.Met499Ile)
c.*1373G>T (n.*1373G>T)
c.1449G>T (p.Met483Ile)
n.1711G>T
c.1614G>T (p.Met538Ile)
c.1443G>T (p.Met481Ile)
c.1440G>T (p.Met480Ile)
c.1590G>T (p.Met530Ile)
c.1389G>T (p.Met463Ile)
10g.69382707G>ACA376910039HK1c.1486G>A (p.Glu496Lys)
c.1402G>A (p.Glu468Lys)
c.1265+2612G>A (n.1265+2612G>A)
c.1096G>A (p.Glu366Lys)
c.*1103G>A (n.*1103G>A)
c.*749G>A (n.*749G>A)
c.1366G>A (p.Glu456Lys)
n.2036G>A
c.1483G>A (p.Glu495Lys)
c.1498G>A (p.Glu500Lys)
c.*1374G>A (n.*1374G>A)
c.1450G>A (p.Glu484Lys)
n.1712G>A
c.1615G>A (p.Glu539Lys)
c.1444G>A (p.Glu482Lys)
c.1441G>A (p.Glu481Lys)
c.1591G>A (p.Glu531Lys)
c.1390G>A (p.Glu464Lys)
10g.69382707G>CCA376910040HK1c.1486G>C (p.Glu496Gln)
c.1402G>C (p.Glu468Gln)
c.1265+2612G>C (n.1265+2612G>C)
c.1096G>C (p.Glu366Gln)
c.*1103G>C (n.*1103G>C)
c.*749G>C (n.*749G>C)
c.1366G>C (p.Glu456Gln)
n.2036G>C
c.1483G>C (p.Glu495Gln)
c.1498G>C (p.Glu500Gln)
c.*1374G>C (n.*1374G>C)
c.1450G>C (p.Glu484Gln)
n.1712G>C
c.1615G>C (p.Glu539Gln)
c.1444G>C (p.Glu482Gln)
c.1441G>C (p.Glu481Gln)
c.1591G>C (p.Glu531Gln)
c.1390G>C (p.Glu464Gln)
10g.69382707G>TCA376910041HK1c.1486G>T (p.Glu496Ter)
c.1402G>T (p.Glu468Ter)
c.1265+2612G>T (n.1265+2612G>T)
c.1096G>T (p.Glu366Ter)
c.*1103G>T (n.*1103G>T)
c.*749G>T (n.*749G>T)
c.1366G>T (p.Glu456Ter)
n.2036G>T
c.1483G>T (p.Glu495Ter)
c.1498G>T (p.Glu500Ter)
c.*1374G>T (n.*1374G>T)
c.1450G>T (p.Glu484Ter)
n.1712G>T
c.1615G>T (p.Glu539Ter)
c.1444G>T (p.Glu482Ter)
c.1441G>T (p.Glu481Ter)
c.1591G>T (p.Glu531Ter)
c.1390G>T (p.Glu464Ter)
10g.69382708A>CCA376910042HK1c.1487A>C (p.Glu496Ala)
c.1403A>C (p.Glu468Ala)
c.1265+2613A>C (n.1265+2613A>C)
c.1097A>C (p.Glu366Ala)
c.*1104A>C (n.*1104A>C)
c.*750A>C (n.*750A>C)
c.1367A>C (p.Glu456Ala)
n.2037A>C
c.1484A>C (p.Glu495Ala)
c.1499A>C (p.Glu500Ala)
c.*1375A>C (n.*1375A>C)
c.1451A>C (p.Glu484Ala)
n.1713A>C
c.1616A>C (p.Glu539Ala)
c.1445A>C (p.Glu482Ala)
c.1442A>C (p.Glu481Ala)
c.1592A>C (p.Glu531Ala)
c.1391A>C (p.Glu464Ala)
 ClinVar
10g.69382708A>GCA376910043HK1c.1487A>G (p.Glu496Gly)
c.1403A>G (p.Glu468Gly)
c.1265+2613A>G (n.1265+2613A>G)
c.1097A>G (p.Glu366Gly)
c.*1104A>G (n.*1104A>G)
c.*750A>G (n.*750A>G)
c.1367A>G (p.Glu456Gly)
n.2037A>G
c.1484A>G (p.Glu495Gly)
c.1499A>G (p.Glu500Gly)
c.*1375A>G (n.*1375A>G)
c.1451A>G (p.Glu484Gly)
n.1713A>G
c.1616A>G (p.Glu539Gly)
c.1445A>G (p.Glu482Gly)
c.1442A>G (p.Glu481Gly)
c.1592A>G (p.Glu531Gly)
c.1391A>G (p.Glu464Gly)
10g.69382708A>TCA376910044HK1c.1487A>T (p.Glu496Val)
c.1403A>T (p.Glu468Val)
c.1265+2613A>T (n.1265+2613A>T)
c.1097A>T (p.Glu366Val)
c.*1104A>T (n.*1104A>T)
c.*750A>T (n.*750A>T)
c.1367A>T (p.Glu456Val)
n.2037A>T
c.1484A>T (p.Glu495Val)
c.1499A>T (p.Glu500Val)
c.*1375A>T (n.*1375A>T)
c.1451A>T (p.Glu484Val)
n.1713A>T
c.1616A>T (p.Glu539Val)
c.1445A>T (p.Glu482Val)
c.1442A>T (p.Glu481Val)
c.1592A>T (p.Glu531Val)
c.1391A>T (p.Glu464Val)
10g.69382709G>ACA470276544HK1c.1488G>A (p.Glu496=)
c.1404G>A (p.Glu468=)
c.1265+2614G>A (n.1265+2614G>A)
c.1098G>A (p.Glu366=)
c.*1105G>A (n.*1105G>A)
c.*751G>A (n.*751G>A)
c.1368G>A (p.Glu456=)
n.2038G>A
c.1485G>A (p.Glu495=)
c.1500G>A (p.Glu500=)
c.*1376G>A (n.*1376G>A)
c.1452G>A (p.Glu484=)
n.1714G>A
c.1617G>A (p.Glu539=)
c.1446G>A (p.Glu482=)
c.1443G>A (p.Glu481=)
c.1593G>A (p.Glu531=)
c.1392G>A (p.Glu464=)
 dbSNP gnomAD v2 gnomAD v4
10g.69382709G>CCA376910045HK1c.1488G>C (p.Glu496Asp)
c.1404G>C (p.Glu468Asp)
c.1265+2614G>C (n.1265+2614G>C)
c.1098G>C (p.Glu366Asp)
c.*1105G>C (n.*1105G>C)
c.*751G>C (n.*751G>C)
c.1368G>C (p.Glu456Asp)
n.2038G>C
c.1485G>C (p.Glu495Asp)
c.1500G>C (p.Glu500Asp)
c.*1376G>C (n.*1376G>C)
c.1452G>C (p.Glu484Asp)
n.1714G>C
c.1617G>C (p.Glu539Asp)
c.1446G>C (p.Glu482Asp)
c.1443G>C (p.Glu481Asp)
c.1593G>C (p.Glu531Asp)
c.1392G>C (p.Glu464Asp)
10g.69382709G=CA1917772260HK1c.1488G= (p.Glu496=)
c.1404G= (p.Glu468=)
c.1265+2614G= (n.1265+2614G=)
c.1098G= (p.Glu366=)
c.*1105G= (n.*1105G=)
c.*751G= (n.*751G=)
c.1368G= (p.Glu456=)
n.2038G=
c.1485G= (p.Glu495=)
c.1500G= (p.Glu500=)
c.*1376G= (n.*1376G=)
c.1452G= (p.Glu484=)
n.1714G=
c.1617G= (p.Glu539=)
c.1446G= (p.Glu482=)
c.1443G= (p.Glu481=)
c.1593G= (p.Glu531=)
c.1392G= (p.Glu464=)
10g.69382709G>TCA376910046HK1c.1488G>T (p.Glu496Asp)
c.1404G>T (p.Glu468Asp)
c.1265+2614G>T (n.1265+2614G>T)
c.1098G>T (p.Glu366Asp)
c.*1105G>T (n.*1105G>T)
c.*751G>T (n.*751G>T)
c.1368G>T (p.Glu456Asp)
n.2038G>T
c.1485G>T (p.Glu495Asp)
c.1500G>T (p.Glu500Asp)
c.*1376G>T (n.*1376G>T)
c.1452G>T (p.Glu484Asp)
n.1714G>T
c.1617G>T (p.Glu539Asp)
c.1446G>T (p.Glu482Asp)
c.1443G>T (p.Glu481Asp)
c.1593G>T (p.Glu531Asp)
c.1392G>T (p.Glu464Asp)
10g.69382710C>ACA376910047HK1c.1489C>A (p.Leu497Met)
c.1405C>A (p.Leu469Met)
c.1265+2615C>A (n.1265+2615C>A)
c.1099C>A (p.Leu367Met)
c.*1106C>A (n.*1106C>A)
c.*752C>A (n.*752C>A)
c.1369C>A (p.Leu457Met)
n.2039C>A
c.1486C>A (p.Leu496Met)
c.1501C>A (p.Leu501Met)
c.*1377C>A (n.*1377C>A)
c.1453C>A (p.Leu485Met)
n.1715C>A
c.1618C>A (p.Leu540Met)
c.1447C>A (p.Leu483Met)
c.1444C>A (p.Leu482Met)
c.1594C>A (p.Leu532Met)
c.1393C>A (p.Leu465Met)
10g.69382710C=CA1917772262HK1c.1489C= (p.Leu497=)
c.1405C= (p.Leu469=)
c.1265+2615C= (n.1265+2615C=)
c.1099C= (p.Leu367=)
c.*1106C= (n.*1106C=)
c.*752C= (n.*752C=)
c.1369C= (p.Leu457=)
n.2039C=
c.1486C= (p.Leu496=)
c.1501C= (p.Leu501=)
c.*1377C= (n.*1377C=)
c.1453C= (p.Leu485=)
n.1715C=
c.1618C= (p.Leu540=)
c.1447C= (p.Leu483=)
c.1444C= (p.Leu482=)
c.1594C= (p.Leu532=)
c.1393C= (p.Leu465=)
10g.69382710C>GCA376910048HK1c.1489C>G (p.Leu497Val)
c.1405C>G (p.Leu469Val)
c.1265+2615C>G (n.1265+2615C>G)
c.1099C>G (p.Leu367Val)
c.*1106C>G (n.*1106C>G)
c.*752C>G (n.*752C>G)
c.1369C>G (p.Leu457Val)
n.2039C>G
c.1486C>G (p.Leu496Val)
c.1501C>G (p.Leu501Val)
c.*1377C>G (n.*1377C>G)
c.1453C>G (p.Leu485Val)
n.1715C>G
c.1618C>G (p.Leu540Val)
c.1447C>G (p.Leu483Val)
c.1444C>G (p.Leu482Val)
c.1594C>G (p.Leu532Val)
c.1393C>G (p.Leu465Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.69382710C>TCA470276545HK1c.1489C>T (p.Leu497=)
c.1405C>T (p.Leu469=)
c.1265+2615C>T (n.1265+2615C>T)
c.1099C>T (p.Leu367=)
c.*1106C>T (n.*1106C>T)
c.*752C>T (n.*752C>T)
c.1369C>T (p.Leu457=)
n.2039C>T
c.1486C>T (p.Leu496=)
c.1501C>T (p.Leu501=)
c.*1377C>T (n.*1377C>T)
c.1453C>T (p.Leu485=)
n.1715C>T
c.1618C>T (p.Leu540=)
c.1447C>T (p.Leu483=)
c.1444C>T (p.Leu482=)
c.1594C>T (p.Leu532=)
c.1393C>T (p.Leu465=)
10g.69382711T>ACA376910050HK1c.1490T>A (p.Leu497Gln)
c.1406T>A (p.Leu469Gln)
c.1265+2616T>A (n.1265+2616T>A)
c.1100T>A (p.Leu367Gln)
c.*1107T>A (n.*1107T>A)
c.*753T>A (n.*753T>A)
c.1370T>A (p.Leu457Gln)
n.2040T>A
c.1487T>A (p.Leu496Gln)
c.1502T>A (p.Leu501Gln)
c.*1378T>A (n.*1378T>A)
c.1454T>A (p.Leu485Gln)
n.1716T>A
c.1619T>A (p.Leu540Gln)
c.1448T>A (p.Leu483Gln)
c.1445T>A (p.Leu482Gln)
c.1595T>A (p.Leu532Gln)
c.1394T>A (p.Leu465Gln)
10g.69382711T>CCA376910053HK1c.1490T>C (p.Leu497Pro)
c.1406T>C (p.Leu469Pro)
c.1265+2616T>C (n.1265+2616T>C)
c.1100T>C (p.Leu367Pro)
c.*1107T>C (n.*1107T>C)
c.*753T>C (n.*753T>C)
c.1370T>C (p.Leu457Pro)
n.2040T>C
c.1487T>C (p.Leu496Pro)
c.1502T>C (p.Leu501Pro)
c.*1378T>C (n.*1378T>C)
c.1454T>C (p.Leu485Pro)
n.1716T>C
c.1619T>C (p.Leu540Pro)
c.1448T>C (p.Leu483Pro)
c.1445T>C (p.Leu482Pro)
c.1595T>C (p.Leu532Pro)
c.1394T>C (p.Leu465Pro)
10g.69382711T>GCA376910054HK1c.1490T>G (p.Leu497Arg)
c.1406T>G (p.Leu469Arg)
c.1265+2616T>G (n.1265+2616T>G)
c.1100T>G (p.Leu367Arg)
c.*1107T>G (n.*1107T>G)
c.*753T>G (n.*753T>G)
c.1370T>G (p.Leu457Arg)
n.2040T>G
c.1487T>G (p.Leu496Arg)
c.1502T>G (p.Leu501Arg)
c.*1378T>G (n.*1378T>G)
c.1454T>G (p.Leu485Arg)
n.1716T>G
c.1619T>G (p.Leu540Arg)
c.1448T>G (p.Leu483Arg)
c.1445T>G (p.Leu482Arg)
c.1595T>G (p.Leu532Arg)
c.1394T>G (p.Leu465Arg)
10g.69382712G>ACA470276547HK1c.1491G>A (p.Leu497=)
c.1407G>A (p.Leu469=)
c.1265+2617G>A (n.1265+2617G>A)
c.1101G>A (p.Leu367=)
c.*1108G>A (n.*1108G>A)
c.*754G>A (n.*754G>A)
c.1371G>A (p.Leu457=)
n.2041G>A
c.1488G>A (p.Leu496=)
c.1503G>A (p.Leu501=)
c.*1379G>A (n.*1379G>A)
c.1455G>A (p.Leu485=)
n.1717G>A
c.1620G>A (p.Leu540=)
c.1449G>A (p.Leu483=)
c.1446G>A (p.Leu482=)
c.1596G>A (p.Leu532=)
c.1395G>A (p.Leu465=)
 gnomAD v4
10g.69382712G>CCA470276548HK1c.1491G>C (p.Leu497=)
c.1407G>C (p.Leu469=)
c.1265+2617G>C (n.1265+2617G>C)
c.1101G>C (p.Leu367=)
c.*1108G>C (n.*1108G>C)
c.*754G>C (n.*754G>C)
c.1371G>C (p.Leu457=)
n.2041G>C
c.1488G>C (p.Leu496=)
c.1503G>C (p.Leu501=)
c.*1379G>C (n.*1379G>C)
c.1455G>C (p.Leu485=)
n.1717G>C
c.1620G>C (p.Leu540=)
c.1449G>C (p.Leu483=)
c.1446G>C (p.Leu482=)
c.1596G>C (p.Leu532=)
c.1395G>C (p.Leu465=)
10g.69382712G>TCA470276549HK1c.1491G>T (p.Leu497=)
c.1407G>T (p.Leu469=)
c.1265+2617G>T (n.1265+2617G>T)
c.1101G>T (p.Leu367=)
c.*1108G>T (n.*1108G>T)
c.*754G>T (n.*754G>T)
c.1371G>T (p.Leu457=)
n.2041G>T
c.1488G>T (p.Leu496=)
c.1503G>T (p.Leu501=)
c.*1379G>T (n.*1379G>T)
c.1455G>T (p.Leu485=)
n.1717G>T
c.1620G>T (p.Leu540=)
c.1449G>T (p.Leu483=)
c.1446G>T (p.Leu482=)
c.1596G>T (p.Leu532=)
c.1395G>T (p.Leu465=)
10g.69382713G>ACA376910062HK1c.1492G>A (p.Gly498Arg)
c.1408G>A (p.Gly470Arg)
c.1265+2618G>A (n.1265+2618G>A)
c.1102G>A (p.Gly368Arg)
c.*1109G>A (n.*1109G>A)
c.*755G>A (n.*755G>A)
c.1372G>A (p.Gly458Arg)
n.2042G>A
c.1489G>A (p.Gly497Arg)
c.1504G>A (p.Gly502Arg)
c.*1380G>A (n.*1380G>A)
c.1456G>A (p.Gly486Arg)
n.1718G>A
c.1621G>A (p.Gly541Arg)
c.1450G>A (p.Gly484Arg)
c.1447G>A (p.Gly483Arg)
c.1597G>A (p.Gly533Arg)
c.1396G>A (p.Gly466Arg)
10g.69382713G>CCA376910064HK1c.1492G>C (p.Gly498Arg)
c.1408G>C (p.Gly470Arg)
c.1265+2618G>C (n.1265+2618G>C)
c.1102G>C (p.Gly368Arg)
c.*1109G>C (n.*1109G>C)
c.*755G>C (n.*755G>C)
c.1372G>C (p.Gly458Arg)
n.2042G>C
c.1489G>C (p.Gly497Arg)
c.1504G>C (p.Gly502Arg)
c.*1380G>C (n.*1380G>C)
c.1456G>C (p.Gly486Arg)
n.1718G>C
c.1621G>C (p.Gly541Arg)
c.1450G>C (p.Gly484Arg)
c.1447G>C (p.Gly483Arg)
c.1597G>C (p.Gly533Arg)
c.1396G>C (p.Gly466Arg)
10g.69382713G>TCA376910057HK1c.1492G>T (p.Gly498Trp)
c.1408G>T (p.Gly470Trp)
c.1265+2618G>T (n.1265+2618G>T)
c.1102G>T (p.Gly368Trp)
c.*1109G>T (n.*1109G>T)
c.*755G>T (n.*755G>T)
c.1372G>T (p.Gly458Trp)
n.2042G>T
c.1489G>T (p.Gly497Trp)
c.1504G>T (p.Gly502Trp)
c.*1380G>T (n.*1380G>T)
c.1456G>T (p.Gly486Trp)
n.1718G>T
c.1621G>T (p.Gly541Trp)
c.1450G>T (p.Gly484Trp)
c.1447G>T (p.Gly483Trp)
c.1597G>T (p.Gly533Trp)
c.1396G>T (p.Gly466Trp)
10g.69382714G>ACA376910067HK1c.1493G>A (p.Gly498Glu)
c.1409G>A (p.Gly470Glu)
c.1265+2619G>A (n.1265+2619G>A)
c.1103G>A (p.Gly368Glu)
c.*1110G>A (n.*1110G>A)
c.*756G>A (n.*756G>A)
c.1373G>A (p.Gly458Glu)
n.2043G>A
c.1490G>A (p.Gly497Glu)
c.1505G>A (p.Gly502Glu)
c.*1381G>A (n.*1381G>A)
c.1457G>A (p.Gly486Glu)
n.1719G>A
c.1622G>A (p.Gly541Glu)
c.1451G>A (p.Gly484Glu)
c.1448G>A (p.Gly483Glu)
c.1598G>A (p.Gly533Glu)
c.1397G>A (p.Gly466Glu)
10g.69382714G>CCA376910069HK1c.1493G>C (p.Gly498Ala)
c.1409G>C (p.Gly470Ala)
c.1265+2619G>C (n.1265+2619G>C)
c.1103G>C (p.Gly368Ala)
c.*1110G>C (n.*1110G>C)
c.*756G>C (n.*756G>C)
c.1373G>C (p.Gly458Ala)
n.2043G>C
c.1490G>C (p.Gly497Ala)
c.1505G>C (p.Gly502Ala)
c.*1381G>C (n.*1381G>C)
c.1457G>C (p.Gly486Ala)
n.1719G>C
c.1622G>C (p.Gly541Ala)
c.1451G>C (p.Gly484Ala)
c.1448G>C (p.Gly483Ala)
c.1598G>C (p.Gly533Ala)
c.1397G>C (p.Gly466Ala)
10g.69382714G>TCA376910071HK1c.1493G>T (p.Gly498Val)
c.1409G>T (p.Gly470Val)
c.1265+2619G>T (n.1265+2619G>T)
c.1103G>T (p.Gly368Val)
c.*1110G>T (n.*1110G>T)
c.*756G>T (n.*756G>T)
c.1373G>T (p.Gly458Val)
n.2043G>T
c.1490G>T (p.Gly497Val)
c.1505G>T (p.Gly502Val)
c.*1381G>T (n.*1381G>T)
c.1457G>T (p.Gly486Val)
n.1719G>T
c.1622G>T (p.Gly541Val)
c.1451G>T (p.Gly484Val)
c.1448G>T (p.Gly483Val)
c.1598G>T (p.Gly533Val)
c.1397G>T (p.Gly466Val)
10g.69382715G>ACA470276553HK1c.1494G>A (p.Gly498=)
c.1410G>A (p.Gly470=)
c.1265+2620G>A (n.1265+2620G>A)
c.1104G>A (p.Gly368=)
c.*1111G>A (n.*1111G>A)
c.*757G>A (n.*757G>A)
c.1374G>A (p.Gly458=)
n.2044G>A
c.1491G>A (p.Gly497=)
c.1506G>A (p.Gly502=)
c.*1382G>A (n.*1382G>A)
c.1458G>A (p.Gly486=)
n.1720G>A
c.1623G>A (p.Gly541=)
c.1452G>A (p.Gly484=)
c.1449G>A (p.Gly483=)
c.1599G>A (p.Gly533=)
c.1398G>A (p.Gly466=)
10g.69382715G>CCA470276555HK1c.1494G>C (p.Gly498=)
c.1410G>C (p.Gly470=)
c.1265+2620G>C (n.1265+2620G>C)
c.1104G>C (p.Gly368=)
c.*1111G>C (n.*1111G>C)
c.*757G>C (n.*757G>C)
c.1374G>C (p.Gly458=)
n.2044G>C
c.1491G>C (p.Gly497=)
c.1506G>C (p.Gly502=)
c.*1382G>C (n.*1382G>C)
c.1458G>C (p.Gly486=)
n.1720G>C
c.1623G>C (p.Gly541=)
c.1452G>C (p.Gly484=)
c.1449G>C (p.Gly483=)
c.1599G>C (p.Gly533=)
c.1398G>C (p.Gly466=)
 gnomAD v4
10g.69382715G>TCA470276558HK1c.1494G>T (p.Gly498=)
c.1410G>T (p.Gly470=)
c.1265+2620G>T (n.1265+2620G>T)
c.1104G>T (p.Gly368=)
c.*1111G>T (n.*1111G>T)
c.*757G>T (n.*757G>T)
c.1374G>T (p.Gly458=)
n.2044G>T
c.1491G>T (p.Gly497=)
c.1506G>T (p.Gly502=)
c.*1382G>T (n.*1382G>T)
c.1458G>T (p.Gly486=)
n.1720G>T
c.1623G>T (p.Gly541=)
c.1452G>T (p.Gly484=)
c.1449G>T (p.Gly483=)
c.1599G>T (p.Gly533=)
c.1398G>T (p.Gly466=)
10g.69382716C>ACA376910073HK1c.1495C>A (p.Leu499Met)
c.1411C>A (p.Leu471Met)
c.1265+2621C>A (n.1265+2621C>A)
c.1105C>A (p.Leu369Met)
c.*1112C>A (n.*1112C>A)
c.*758C>A (n.*758C>A)
c.1375C>A (p.Leu459Met)
n.2045C>A
c.1492C>A (p.Leu498Met)
c.1507C>A (p.Leu503Met)
c.*1383C>A (n.*1383C>A)
c.1459C>A (p.Leu487Met)
n.1721C>A
c.1624C>A (p.Leu542Met)
c.1453C>A (p.Leu485Met)
c.1450C>A (p.Leu484Met)
c.1600C>A (p.Leu534Met)
c.1399C>A (p.Leu467Met)
10g.69382716C>GCA376910075HK1c.1495C>G (p.Leu499Val)
c.1411C>G (p.Leu471Val)
c.1265+2621C>G (n.1265+2621C>G)
c.1105C>G (p.Leu369Val)
c.*1112C>G (n.*1112C>G)
c.*758C>G (n.*758C>G)
c.1375C>G (p.Leu459Val)
n.2045C>G
c.1492C>G (p.Leu498Val)
c.1507C>G (p.Leu503Val)
c.*1383C>G (n.*1383C>G)
c.1459C>G (p.Leu487Val)
n.1721C>G
c.1624C>G (p.Leu542Val)
c.1453C>G (p.Leu485Val)
c.1450C>G (p.Leu484Val)
c.1600C>G (p.Leu534Val)
c.1399C>G (p.Leu467Val)
10g.69382716C>TCA470276561HK1c.1495C>T (p.Leu499=)
c.1411C>T (p.Leu471=)
c.1265+2621C>T (n.1265+2621C>T)
c.1105C>T (p.Leu369=)
c.*1112C>T (n.*1112C>T)
c.*758C>T (n.*758C>T)
c.1375C>T (p.Leu459=)
n.2045C>T
c.1492C>T (p.Leu498=)
c.1507C>T (p.Leu503=)
c.*1383C>T (n.*1383C>T)
c.1459C>T (p.Leu487=)
n.1721C>T
c.1624C>T (p.Leu542=)
c.1453C>T (p.Leu485=)
c.1450C>T (p.Leu484=)
c.1600C>T (p.Leu534=)
c.1399C>T (p.Leu467=)
 gnomAD v4
10g.69382717T>ACA376910081HK1c.1496T>A (p.Leu499Gln)
c.1412T>A (p.Leu471Gln)
c.1265+2622T>A (n.1265+2622T>A)
c.1106T>A (p.Leu369Gln)
c.*1113T>A (n.*1113T>A)
c.*759T>A (n.*759T>A)
c.1376T>A (p.Leu459Gln)
n.2046T>A
n.1T>A
c.1493T>A (p.Leu498Gln)
c.1508T>A (p.Leu503Gln)
c.*1384T>A (n.*1384T>A)
c.1460T>A (p.Leu487Gln)
n.1722T>A
c.1625T>A (p.Leu542Gln)
c.1454T>A (p.Leu485Gln)
c.1451T>A (p.Leu484Gln)
c.1601T>A (p.Leu534Gln)
c.1400T>A (p.Leu467Gln)
 gnomAD v4
10g.69382717T>CCA376910077HK1c.1496T>C (p.Leu499Pro)
c.1412T>C (p.Leu471Pro)
c.1265+2622T>C (n.1265+2622T>C)
c.1106T>C (p.Leu369Pro)
c.*1113T>C (n.*1113T>C)
c.*759T>C (n.*759T>C)
c.1376T>C (p.Leu459Pro)
n.2046T>C
n.1T>C
c.1493T>C (p.Leu498Pro)
c.1508T>C (p.Leu503Pro)
c.*1384T>C (n.*1384T>C)
c.1460T>C (p.Leu487Pro)
n.1722T>C
c.1625T>C (p.Leu542Pro)
c.1454T>C (p.Leu485Pro)
c.1451T>C (p.Leu484Pro)
c.1601T>C (p.Leu534Pro)
c.1400T>C (p.Leu467Pro)
10g.69382717T>GCA376910079HK1c.1496T>G (p.Leu499Arg)
c.1412T>G (p.Leu471Arg)
c.1265+2622T>G (n.1265+2622T>G)
c.1106T>G (p.Leu369Arg)
c.*1113T>G (n.*1113T>G)
c.*759T>G (n.*759T>G)
c.1376T>G (p.Leu459Arg)
n.2046T>G
n.1T>G
c.1493T>G (p.Leu498Arg)
c.1508T>G (p.Leu503Arg)
c.*1384T>G (n.*1384T>G)
c.1460T>G (p.Leu487Arg)
n.1722T>G
c.1625T>G (p.Leu542Arg)
c.1454T>G (p.Leu485Arg)
c.1451T>G (p.Leu484Arg)
c.1601T>G (p.Leu534Arg)
c.1400T>G (p.Leu467Arg)
10g.69382718G>ACA470276562HK1c.1497G>A (p.Leu499=)
c.1413G>A (p.Leu471=)
c.1265+2623G>A (n.1265+2623G>A)
c.1107G>A (p.Leu369=)
c.*1114G>A (n.*1114G>A)
c.*760G>A (n.*760G>A)
c.1377G>A (p.Leu459=)
n.2047G>A
n.2G>A
c.1494G>A (p.Leu498=)
c.1509G>A (p.Leu503=)
c.*1385G>A (n.*1385G>A)
c.1461G>A (p.Leu487=)
n.1723G>A
c.1626G>A (p.Leu542=)
c.1455G>A (p.Leu485=)
c.1452G>A (p.Leu484=)
c.1602G>A (p.Leu534=)
c.1401G>A (p.Leu467=)
10g.69382718G>CCA5532610HK1c.1497G>C (p.Leu499=)
c.1413G>C (p.Leu471=)
c.1265+2623G>C (n.1265+2623G>C)
c.1107G>C (p.Leu369=)
c.*1114G>C (n.*1114G>C)
c.*760G>C (n.*760G>C)
c.1377G>C (p.Leu459=)
n.2047G>C
n.2G>C
c.1494G>C (p.Leu498=)
c.1509G>C (p.Leu503=)
c.*1385G>C (n.*1385G>C)
c.1461G>C (p.Leu487=)
n.1723G>C
c.1626G>C (p.Leu542=)
c.1455G>C (p.Leu485=)
c.1452G>C (p.Leu484=)
c.1602G>C (p.Leu534=)
c.1401G>C (p.Leu467=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.69382718G=CA1917772264HK1c.1497G= (p.Leu499=)
c.1413G= (p.Leu471=)
c.1265+2623G= (n.1265+2623G=)
c.1107G= (p.Leu369=)
c.*1114G= (n.*1114G=)
c.*760G= (n.*760G=)
c.1377G= (p.Leu459=)
n.2047G=
n.2G=
c.1494G= (p.Leu498=)
c.1509G= (p.Leu503=)
c.*1385G= (n.*1385G=)
c.1461G= (p.Leu487=)
n.1723G=
c.1626G= (p.Leu542=)
c.1455G= (p.Leu485=)
c.1452G= (p.Leu484=)
c.1602G= (p.Leu534=)
c.1401G= (p.Leu467=)
10g.69382718G>TCA470276563HK1c.1497G>T (p.Leu499=)
c.1413G>T (p.Leu471=)
c.1265+2623G>T (n.1265+2623G>T)
c.1107G>T (p.Leu369=)
c.*1114G>T (n.*1114G>T)
c.*760G>T (n.*760G>T)
c.1377G>T (p.Leu459=)
n.2047G>T
n.2G>T
c.1494G>T (p.Leu498=)
c.1509G>T (p.Leu503=)
c.*1385G>T (n.*1385G>T)
c.1461G>T (p.Leu487=)
n.1723G>T
c.1626G>T (p.Leu542=)
c.1455G>T (p.Leu485=)
c.1452G>T (p.Leu484=)
c.1602G>T (p.Leu534=)
c.1401G>T (p.Leu467=)
10g.69382719A>CCA470276566HK1c.1498A>C (p.Arg500=)
c.1414A>C (p.Arg472=)
c.1265+2624A>C (n.1265+2624A>C)
c.1108A>C (p.Arg370=)
c.*1115A>C (n.*1115A>C)
c.*761A>C (n.*761A>C)
c.1378A>C (p.Arg460=)
n.2048A>C
n.3A>C
c.1495A>C (p.Arg499=)
c.1510A>C (p.Arg504=)
c.*1386A>C (n.*1386A>C)
c.1462A>C (p.Arg488=)
n.1724A>C
c.1627A>C (p.Arg543=)
c.1456A>C (p.Arg486=)
c.1453A>C (p.Arg485=)
c.1603A>C (p.Arg535=)
c.1402A>C (p.Arg468=)
10g.69382719A>GCA376910086HK1c.1498A>G (p.Arg500Gly)
c.1414A>G (p.Arg472Gly)
c.1265+2624A>G (n.1265+2624A>G)
c.1108A>G (p.Arg370Gly)
c.*1115A>G (n.*1115A>G)
c.*761A>G (n.*761A>G)
c.1378A>G (p.Arg460Gly)
n.2048A>G
n.3A>G
c.1495A>G (p.Arg499Gly)
c.1510A>G (p.Arg504Gly)
c.*1386A>G (n.*1386A>G)
c.1462A>G (p.Arg488Gly)
n.1724A>G
c.1627A>G (p.Arg543Gly)
c.1456A>G (p.Arg486Gly)
c.1453A>G (p.Arg485Gly)
c.1603A>G (p.Arg535Gly)
c.1402A>G (p.Arg468Gly)
10g.69382719A>TCA376910089HK1c.1498A>T (p.Arg500Trp)
c.1414A>T (p.Arg472Trp)
c.1265+2624A>T (n.1265+2624A>T)
c.1108A>T (p.Arg370Trp)
c.*1115A>T (n.*1115A>T)
c.*761A>T (n.*761A>T)
c.1378A>T (p.Arg460Trp)
n.2048A>T
n.3A>T
c.1495A>T (p.Arg499Trp)
c.1510A>T (p.Arg504Trp)
c.*1386A>T (n.*1386A>T)
c.1462A>T (p.Arg488Trp)
n.1724A>T
c.1627A>T (p.Arg543Trp)
c.1456A>T (p.Arg486Trp)
c.1453A>T (p.Arg485Trp)
c.1603A>T (p.Arg535Trp)
c.1402A>T (p.Arg468Trp)
10g.69382720G>ACA376910090HK1c.1499G>A (p.Arg500Lys)
c.1415G>A (p.Arg472Lys)
c.1265+2625G>A (n.1265+2625G>A)
c.1109G>A (p.Arg370Lys)
c.*1116G>A (n.*1116G>A)
c.*762G>A (n.*762G>A)
c.1379G>A (p.Arg460Lys)
n.2049G>A
n.4G>A
c.1496G>A (p.Arg499Lys)
c.1511G>A (p.Arg504Lys)
c.*1387G>A (n.*1387G>A)
c.1463G>A (p.Arg488Lys)
n.1725G>A
c.1628G>A (p.Arg543Lys)
c.1457G>A (p.Arg486Lys)
c.1454G>A (p.Arg485Lys)
c.1604G>A (p.Arg535Lys)
c.1403G>A (p.Arg468Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.69382720G>CCA376910092HK1c.1499G>C (p.Arg500Thr)
c.1415G>C (p.Arg472Thr)
c.1265+2625G>C (n.1265+2625G>C)
c.1109G>C (p.Arg370Thr)
c.*1116G>C (n.*1116G>C)
c.*762G>C (n.*762G>C)
c.1379G>C (p.Arg460Thr)
n.2049G>C
n.4G>C
c.1496G>C (p.Arg499Thr)
c.1511G>C (p.Arg504Thr)
c.*1387G>C (n.*1387G>C)
c.1463G>C (p.Arg488Thr)
n.1725G>C
c.1628G>C (p.Arg543Thr)
c.1457G>C (p.Arg486Thr)
c.1454G>C (p.Arg485Thr)
c.1604G>C (p.Arg535Thr)
c.1403G>C (p.Arg468Thr)
 ClinVar dbSNP
10g.69382720G=CA1917772268HK1c.1499G= (p.Arg500=)
c.1415G= (p.Arg472=)
c.1265+2625G= (n.1265+2625G=)
c.1109G= (p.Arg370=)
c.*1116G= (n.*1116G=)
c.*762G= (n.*762G=)
c.1379G= (p.Arg460=)
n.2049G=
n.4G=
c.1496G= (p.Arg499=)
c.1511G= (p.Arg504=)
c.*1387G= (n.*1387G=)
c.1463G= (p.Arg488=)
n.1725G=
c.1628G= (p.Arg543=)
c.1457G= (p.Arg486=)
c.1454G= (p.Arg485=)
c.1604G= (p.Arg535=)
c.1403G= (p.Arg468=)
10g.69382720G>TCA5532611HK1c.1499G>T (p.Arg500Met)
c.1415G>T (p.Arg472Met)
c.1265+2625G>T (n.1265+2625G>T)
c.1109G>T (p.Arg370Met)
c.*1116G>T (n.*1116G>T)
c.*762G>T (n.*762G>T)
c.1379G>T (p.Arg460Met)
n.2049G>T
n.4G>T
c.1496G>T (p.Arg499Met)
c.1511G>T (p.Arg504Met)
c.*1387G>T (n.*1387G>T)
c.1463G>T (p.Arg488Met)
n.1725G>T
c.1628G>T (p.Arg543Met)
c.1457G>T (p.Arg486Met)
c.1454G>T (p.Arg485Met)
c.1604G>T (p.Arg535Met)
c.1403G>T (p.Arg468Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.69382721G>ACA470276570HK1c.1500G>A (p.Arg500=)
c.1416G>A (p.Arg472=)
c.1265+2626G>A (n.1265+2626G>A)
c.1110G>A (p.Arg370=)
c.*1117G>A (n.*1117G>A)
c.*763G>A (n.*763G>A)
c.1380G>A (p.Arg460=)
n.2050G>A
n.5G>A
c.1497G>A (p.Arg499=)
c.1512G>A (p.Arg504=)
c.*1388G>A (n.*1388G>A)
c.1464G>A (p.Arg488=)
n.1726G>A
c.1629G>A (p.Arg543=)
c.1458G>A (p.Arg486=)
c.1455G>A (p.Arg485=)
c.1605G>A (p.Arg535=)
c.1404G>A (p.Arg468=)
10g.69382721G>CCA376910095HK1c.1500G>C (p.Arg500Ser)
c.1416G>C (p.Arg472Ser)
c.1265+2626G>C (n.1265+2626G>C)
c.1110G>C (p.Arg370Ser)
c.*1117G>C (n.*1117G>C)
c.*763G>C (n.*763G>C)
c.1380G>C (p.Arg460Ser)
n.2050G>C
n.5G>C
c.1497G>C (p.Arg499Ser)
c.1512G>C (p.Arg504Ser)
c.*1388G>C (n.*1388G>C)
c.1464G>C (p.Arg488Ser)
n.1726G>C
c.1629G>C (p.Arg543Ser)
c.1458G>C (p.Arg486Ser)
c.1455G>C (p.Arg485Ser)
c.1605G>C (p.Arg535Ser)
c.1404G>C (p.Arg468Ser)
10g.69382721G>TCA376910094HK1c.1500G>T (p.Arg500Ser)
c.1416G>T (p.Arg472Ser)
c.1265+2626G>T (n.1265+2626G>T)
c.1110G>T (p.Arg370Ser)
c.*1117G>T (n.*1117G>T)
c.*763G>T (n.*763G>T)
c.1380G>T (p.Arg460Ser)
n.2050G>T
n.5G>T
c.1497G>T (p.Arg499Ser)
c.1512G>T (p.Arg504Ser)
c.*1388G>T (n.*1388G>T)
c.1464G>T (p.Arg488Ser)
n.1726G>T
c.1629G>T (p.Arg543Ser)
c.1458G>T (p.Arg486Ser)
c.1455G>T (p.Arg485Ser)
c.1605G>T (p.Arg535Ser)
c.1404G>T (p.Arg468Ser)
10g.69382722A>CCA376910098HK1c.1501A>C (p.Lys501Gln)
c.1417A>C (p.Lys473Gln)
c.1265+2627A>C (n.1265+2627A>C)
c.1111A>C (p.Lys371Gln)
c.*1118A>C (n.*1118A>C)
c.*764A>C (n.*764A>C)
c.1381A>C (p.Lys461Gln)
n.2051A>C
n.6A>C
c.1498A>C (p.Lys500Gln)
c.1513A>C (p.Lys505Gln)
c.*1389A>C (n.*1389A>C)
c.1465A>C (p.Lys489Gln)
n.1727A>C
c.1630A>C (p.Lys544Gln)
c.1459A>C (p.Lys487Gln)
c.1456A>C (p.Lys486Gln)
c.1606A>C (p.Lys536Gln)
c.1405A>C (p.Lys469Gln)
10g.69382722A>GCA376910101HK1c.1501A>G (p.Lys501Glu)
c.1417A>G (p.Lys473Glu)
c.1265+2627A>G (n.1265+2627A>G)
c.1111A>G (p.Lys371Glu)
c.*1118A>G (n.*1118A>G)
c.*764A>G (n.*764A>G)
c.1381A>G (p.Lys461Glu)
n.2051A>G
n.6A>G
c.1498A>G (p.Lys500Glu)
c.1513A>G (p.Lys505Glu)
c.*1389A>G (n.*1389A>G)
c.1465A>G (p.Lys489Glu)
n.1727A>G
c.1630A>G (p.Lys544Glu)
c.1459A>G (p.Lys487Glu)
c.1456A>G (p.Lys486Glu)
c.1606A>G (p.Lys536Glu)
c.1405A>G (p.Lys469Glu)
10g.69382722A>TCA376910100HK1c.1501A>T (p.Lys501Ter)
c.1417A>T (p.Lys473Ter)
c.1265+2627A>T (n.1265+2627A>T)
c.1111A>T (p.Lys371Ter)
c.*1118A>T (n.*1118A>T)
c.*764A>T (n.*764A>T)
c.1381A>T (p.Lys461Ter)
n.2051A>T
n.6A>T
c.1498A>T (p.Lys500Ter)
c.1513A>T (p.Lys505Ter)
c.*1389A>T (n.*1389A>T)
c.1465A>T (p.Lys489Ter)
n.1727A>T
c.1630A>T (p.Lys544Ter)
c.1459A>T (p.Lys487Ter)
c.1456A>T (p.Lys486Ter)
c.1606A>T (p.Lys536Ter)
c.1405A>T (p.Lys469Ter)
10g.69382723A>CCA376910105HK1c.1502A>C (p.Lys501Thr)
c.1418A>C (p.Lys473Thr)
c.1265+2628A>C (n.1265+2628A>C)
c.1112A>C (p.Lys371Thr)
c.*1119A>C (n.*1119A>C)
c.*765A>C (n.*765A>C)
c.1382A>C (p.Lys461Thr)
n.2052A>C
n.7A>C
c.1499A>C (p.Lys500Thr)
c.1514A>C (p.Lys505Thr)
c.*1390A>C (n.*1390A>C)
c.1466A>C (p.Lys489Thr)
n.1728A>C
c.1631A>C (p.Lys544Thr)
c.1460A>C (p.Lys487Thr)
c.1457A>C (p.Lys486Thr)
c.1607A>C (p.Lys536Thr)
c.1406A>C (p.Lys469Thr)
10g.69382723A>GCA376910109HK1c.1502A>G (p.Lys501Arg)
c.1418A>G (p.Lys473Arg)
c.1265+2628A>G (n.1265+2628A>G)
c.1112A>G (p.Lys371Arg)
c.*1119A>G (n.*1119A>G)
c.*765A>G (n.*765A>G)
c.1382A>G (p.Lys461Arg)
n.2052A>G
n.7A>G
c.1499A>G (p.Lys500Arg)
c.1514A>G (p.Lys505Arg)
c.*1390A>G (n.*1390A>G)
c.1466A>G (p.Lys489Arg)
n.1728A>G
c.1631A>G (p.Lys544Arg)
c.1460A>G (p.Lys487Arg)
c.1457A>G (p.Lys486Arg)
c.1607A>G (p.Lys536Arg)
c.1406A>G (p.Lys469Arg)
10g.69382723A>TCA376910107HK1c.1502A>T (p.Lys501Met)
c.1418A>T (p.Lys473Met)
c.1265+2628A>T (n.1265+2628A>T)
c.1112A>T (p.Lys371Met)
c.*1119A>T (n.*1119A>T)
c.*765A>T (n.*765A>T)
c.1382A>T (p.Lys461Met)
n.2052A>T
n.7A>T
c.1499A>T (p.Lys500Met)
c.1514A>T (p.Lys505Met)
c.*1390A>T (n.*1390A>T)
c.1466A>T (p.Lys489Met)
n.1728A>T
c.1631A>T (p.Lys544Met)
c.1460A>T (p.Lys487Met)
c.1457A>T (p.Lys486Met)
c.1607A>T (p.Lys536Met)
c.1406A>T (p.Lys469Met)
10g.69382724G>ACA470276575HK1c.1503G>A (p.Lys501=)
c.1419G>A (p.Lys473=)
c.1265+2629G>A (n.1265+2629G>A)
c.1113G>A (p.Lys371=)
c.*1120G>A (n.*1120G>A)
c.*766G>A (n.*766G>A)
c.1383G>A (p.Lys461=)
n.2053G>A
n.8G>A
c.1500G>A (p.Lys500=)
c.1515G>A (p.Lys505=)
c.*1391G>A (n.*1391G>A)
c.1467G>A (p.Lys489=)
n.1729G>A
c.1632G>A (p.Lys544=)
c.1461G>A (p.Lys487=)
c.1458G>A (p.Lys486=)
c.1608G>A (p.Lys536=)
c.1407G>A (p.Lys469=)
10g.69382724G>CCA376910112HK1c.1503G>C (p.Lys501Asn)
c.1419G>C (p.Lys473Asn)
c.1265+2629G>C (n.1265+2629G>C)
c.1113G>C (p.Lys371Asn)
c.*1120G>C (n.*1120G>C)
c.*766G>C (n.*766G>C)
c.1383G>C (p.Lys461Asn)
n.2053G>C
n.8G>C
c.1500G>C (p.Lys500Asn)
c.1515G>C (p.Lys505Asn)
c.*1391G>C (n.*1391G>C)
c.1467G>C (p.Lys489Asn)
n.1729G>C
c.1632G>C (p.Lys544Asn)
c.1461G>C (p.Lys487Asn)
c.1458G>C (p.Lys486Asn)
c.1608G>C (p.Lys536Asn)
c.1407G>C (p.Lys469Asn)
10g.69382724G>TCA376910113HK1c.1503G>T (p.Lys501Asn)
c.1419G>T (p.Lys473Asn)
c.1265+2629G>T (n.1265+2629G>T)
c.1113G>T (p.Lys371Asn)
c.*1120G>T (n.*1120G>T)
c.*766G>T (n.*766G>T)
c.1383G>T (p.Lys461Asn)
n.2053G>T
n.8G>T
c.1500G>T (p.Lys500Asn)
c.1515G>T (p.Lys505Asn)
c.*1391G>T (n.*1391G>T)
c.1467G>T (p.Lys489Asn)
n.1729G>T
c.1632G>T (p.Lys544Asn)
c.1461G>T (p.Lys487Asn)
c.1458G>T (p.Lys486Asn)
c.1608G>T (p.Lys536Asn)
c.1407G>T (p.Lys469Asn)
 COSMIC COSMIC COSMIC COSMIC
10g.69382725C>ACA376910115HK1c.1504C>A (p.Gln502Lys)
c.1420C>A (p.Gln474Lys)
c.1265+2630C>A (n.1265+2630C>A)
c.1114C>A (p.Gln372Lys)
c.*1121C>A (n.*1121C>A)
c.*767C>A (n.*767C>A)
c.1384C>A (p.Gln462Lys)
n.2054C>A
n.9C>A
c.1501C>A (p.Gln501Lys)
c.1516C>A (p.Gln506Lys)
c.*1392C>A (n.*1392C>A)
c.1468C>A (p.Gln490Lys)
n.1730C>A
c.1633C>A (p.Gln545Lys)
c.1462C>A (p.Gln488Lys)
c.1459C>A (p.Gln487Lys)
c.1609C>A (p.Gln537Lys)
c.1408C>A (p.Gln470Lys)
10g.69382725C>GCA376910117HK1c.1504C>G (p.Gln502Glu)
c.1420C>G (p.Gln474Glu)
c.1265+2630C>G (n.1265+2630C>G)
c.1114C>G (p.Gln372Glu)
c.*1121C>G (n.*1121C>G)
c.*767C>G (n.*767C>G)
c.1384C>G (p.Gln462Glu)
n.2054C>G
n.9C>G
c.1501C>G (p.Gln501Glu)
c.1516C>G (p.Gln506Glu)
c.*1392C>G (n.*1392C>G)
c.1468C>G (p.Gln490Glu)
n.1730C>G
c.1633C>G (p.Gln545Glu)
c.1462C>G (p.Gln488Glu)
c.1459C>G (p.Gln487Glu)
c.1609C>G (p.Gln537Glu)
c.1408C>G (p.Gln470Glu)
10g.69382725C>TCA376910118HK1c.1504C>T (p.Gln502Ter)
c.1420C>T (p.Gln474Ter)
c.1265+2630C>T (n.1265+2630C>T)
c.1114C>T (p.Gln372Ter)
c.*1121C>T (n.*1121C>T)
c.*767C>T (n.*767C>T)
c.1384C>T (p.Gln462Ter)
n.2054C>T
n.9C>T
c.1501C>T (p.Gln501Ter)
c.1516C>T (p.Gln506Ter)
c.*1392C>T (n.*1392C>T)
c.1468C>T (p.Gln490Ter)
n.1730C>T
c.1633C>T (p.Gln545Ter)
c.1462C>T (p.Gln488Ter)
c.1459C>T (p.Gln487Ter)
c.1609C>T (p.Gln537Ter)
c.1408C>T (p.Gln470Ter)
10g.69382726A>CCA376910120HK1c.1505A>C (p.Gln502Pro)
c.1421A>C (p.Gln474Pro)
c.1265+2631A>C (n.1265+2631A>C)
c.1115A>C (p.Gln372Pro)
c.*1122A>C (n.*1122A>C)
c.*768A>C (n.*768A>C)
c.1385A>C (p.Gln462Pro)
n.2055A>C
n.10A>C
c.1502A>C (p.Gln501Pro)
c.1517A>C (p.Gln506Pro)
c.*1393A>C (n.*1393A>C)
c.1469A>C (p.Gln490Pro)
n.1731A>C
c.1634A>C (p.Gln545Pro)
c.1463A>C (p.Gln488Pro)
c.1460A>C (p.Gln487Pro)
c.1610A>C (p.Gln537Pro)
c.1409A>C (p.Gln470Pro)
10g.69382726A>GCA376910122HK1c.1505A>G (p.Gln502Arg)
c.1421A>G (p.Gln474Arg)
c.1265+2631A>G (n.1265+2631A>G)
c.1115A>G (p.Gln372Arg)
c.*1122A>G (n.*1122A>G)
c.*768A>G (n.*768A>G)
c.1385A>G (p.Gln462Arg)
n.2055A>G
n.10A>G
c.1502A>G (p.Gln501Arg)
c.1517A>G (p.Gln506Arg)
c.*1393A>G (n.*1393A>G)
c.1469A>G (p.Gln490Arg)
n.1731A>G
c.1634A>G (p.Gln545Arg)
c.1463A>G (p.Gln488Arg)
c.1460A>G (p.Gln487Arg)
c.1610A>G (p.Gln537Arg)
c.1409A>G (p.Gln470Arg)
10g.69382726A>TCA376910124HK1c.1505A>T (p.Gln502Leu)
c.1421A>T (p.Gln474Leu)
c.1265+2631A>T (n.1265+2631A>T)
c.1115A>T (p.Gln372Leu)
c.*1122A>T (n.*1122A>T)
c.*768A>T (n.*768A>T)
c.1385A>T (p.Gln462Leu)
n.2055A>T
n.10A>T
c.1502A>T (p.Gln501Leu)
c.1517A>T (p.Gln506Leu)
c.*1393A>T (n.*1393A>T)
c.1469A>T (p.Gln490Leu)
n.1731A>T
c.1634A>T (p.Gln545Leu)
c.1463A>T (p.Gln488Leu)
c.1460A>T (p.Gln487Leu)
c.1610A>T (p.Gln537Leu)
c.1409A>T (p.Gln470Leu)
10g.69382727G>ACA470276577HK1c.1506G>A (p.Gln502=)
c.1422G>A (p.Gln474=)
c.1265+2632G>A (n.1265+2632G>A)
c.1116G>A (p.Gln372=)
c.*1123G>A (n.*1123G>A)
c.*769G>A (n.*769G>A)
c.1386G>A (p.Gln462=)
n.2056G>A
n.11G>A
c.1503G>A (p.Gln501=)
c.1518G>A (p.Gln506=)
c.*1394G>A (n.*1394G>A)
c.1470G>A (p.Gln490=)
n.1732G>A
c.1635G>A (p.Gln545=)
c.1464G>A (p.Gln488=)
c.1461G>A (p.Gln487=)
c.1611G>A (p.Gln537=)
c.1410G>A (p.Gln470=)
10g.69382727G>CCA376910126HK1c.1506G>C (p.Gln502His)
c.1422G>C (p.Gln474His)
c.1265+2632G>C (n.1265+2632G>C)
c.1116G>C (p.Gln372His)
c.*1123G>C (n.*1123G>C)
c.*769G>C (n.*769G>C)
c.1386G>C (p.Gln462His)
n.2056G>C
n.11G>C
c.1503G>C (p.Gln501His)
c.1518G>C (p.Gln506His)
c.*1394G>C (n.*1394G>C)
c.1470G>C (p.Gln490His)
n.1732G>C
c.1635G>C (p.Gln545His)
c.1464G>C (p.Gln488His)
c.1461G>C (p.Gln487His)
c.1611G>C (p.Gln537His)
c.1410G>C (p.Gln470His)
10g.69382727G>TCA376910128HK1c.1506G>T (p.Gln502His)
c.1422G>T (p.Gln474His)
c.1265+2632G>T (n.1265+2632G>T)
c.1116G>T (p.Gln372His)
c.*1123G>T (n.*1123G>T)
c.*769G>T (n.*769G>T)
c.1386G>T (p.Gln462His)
n.2056G>T
n.11G>T
c.1503G>T (p.Gln501His)
c.1518G>T (p.Gln506His)
c.*1394G>T (n.*1394G>T)
c.1470G>T (p.Gln490His)
n.1732G>T
c.1635G>T (p.Gln545His)
c.1464G>T (p.Gln488His)
c.1461G>T (p.Gln487His)
c.1611G>T (p.Gln537His)
c.1410G>T (p.Gln470His)
10g.69382728A>CCA376910130HK1c.1507A>C (p.Thr503Pro)
c.1423A>C (p.Thr475Pro)
c.1265+2633A>C (n.1265+2633A>C)
c.1117A>C (p.Thr373Pro)
c.*1124A>C (n.*1124A>C)
c.*770A>C (n.*770A>C)
c.1387A>C (p.Thr463Pro)
n.2057A>C
n.12A>C
c.1504A>C (p.Thr502Pro)
c.1519A>C (p.Thr507Pro)
c.*1395A>C (n.*1395A>C)
c.1471A>C (p.Thr491Pro)
n.1733A>C
c.1636A>C (p.Thr546Pro)
c.1465A>C (p.Thr489Pro)
c.1462A>C (p.Thr488Pro)
c.1612A>C (p.Thr538Pro)
c.1411A>C (p.Thr471Pro)
10g.69382728A>GCA376910132HK1c.1507A>G (p.Thr503Ala)
c.1423A>G (p.Thr475Ala)
c.1265+2633A>G (n.1265+2633A>G)
c.1117A>G (p.Thr373Ala)
c.*1124A>G (n.*1124A>G)
c.*770A>G (n.*770A>G)
c.1387A>G (p.Thr463Ala)
n.2057A>G
n.12A>G
c.1504A>G (p.Thr502Ala)
c.1519A>G (p.Thr507Ala)
c.*1395A>G (n.*1395A>G)
c.1471A>G (p.Thr491Ala)
n.1733A>G
c.1636A>G (p.Thr546Ala)
c.1465A>G (p.Thr489Ala)
c.1462A>G (p.Thr488Ala)
c.1612A>G (p.Thr538Ala)
c.1411A>G (p.Thr471Ala)
10g.69382728A>TCA376910134HK1c.1507A>T (p.Thr503Ser)
c.1423A>T (p.Thr475Ser)
c.1265+2633A>T (n.1265+2633A>T)
c.1117A>T (p.Thr373Ser)
c.*1124A>T (n.*1124A>T)
c.*770A>T (n.*770A>T)
c.1387A>T (p.Thr463Ser)
n.2057A>T
n.12A>T
c.1504A>T (p.Thr502Ser)
c.1519A>T (p.Thr507Ser)
c.*1395A>T (n.*1395A>T)
c.1471A>T (p.Thr491Ser)
n.1733A>T
c.1636A>T (p.Thr546Ser)
c.1465A>T (p.Thr489Ser)
c.1462A>T (p.Thr488Ser)
c.1612A>T (p.Thr538Ser)
c.1411A>T (p.Thr471Ser)
10g.69382729C>ACA376910138HK1c.1508C>A (p.Thr503Lys)
c.1424C>A (p.Thr475Lys)
c.1265+2634C>A (n.1265+2634C>A)
c.1118C>A (p.Thr373Lys)
c.*1125C>A (n.*1125C>A)
c.*771C>A (n.*771C>A)
c.1388C>A (p.Thr463Lys)
n.2058C>A
n.13C>A
c.1505C>A (p.Thr502Lys)
c.1520C>A (p.Thr507Lys)
c.*1396C>A (n.*1396C>A)
c.1472C>A (p.Thr491Lys)
n.1734C>A
c.1637C>A (p.Thr546Lys)
c.1466C>A (p.Thr489Lys)
c.1463C>A (p.Thr488Lys)
c.1613C>A (p.Thr538Lys)
c.1412C>A (p.Thr471Lys)
 gnomAD v4
10g.69382729C=CA1917772272HK1c.1508C= (p.Thr503=)
c.1424C= (p.Thr475=)
c.1265+2634C= (n.1265+2634C=)
c.1118C= (p.Thr373=)
c.*1125C= (n.*1125C=)
c.*771C= (n.*771C=)
c.1388C= (p.Thr463=)
n.2058C=
n.13C=
c.1505C= (p.Thr502=)
c.1520C= (p.Thr507=)
c.*1396C= (n.*1396C=)
c.1472C= (p.Thr491=)
n.1734C=
c.1637C= (p.Thr546=)
c.1466C= (p.Thr489=)
c.1463C= (p.Thr488=)
c.1613C= (p.Thr538=)
c.1412C= (p.Thr471=)
10g.69382729C>GCA376910136HK1c.1508C>G (p.Thr503Arg)
c.1424C>G (p.Thr475Arg)
c.1265+2634C>G (n.1265+2634C>G)
c.1118C>G (p.Thr373Arg)
c.*1125C>G (n.*1125C>G)
c.*771C>G (n.*771C>G)
c.1388C>G (p.Thr463Arg)
n.2058C>G
n.13C>G
c.1505C>G (p.Thr502Arg)
c.1520C>G (p.Thr507Arg)
c.*1396C>G (n.*1396C>G)
c.1472C>G (p.Thr491Arg)
n.1734C>G
c.1637C>G (p.Thr546Arg)
c.1466C>G (p.Thr489Arg)
c.1463C>G (p.Thr488Arg)
c.1613C>G (p.Thr538Arg)
c.1412C>G (p.Thr471Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.69382729C>TCA5532612HK1c.1508C>T (p.Thr503Met)
c.1424C>T (p.Thr475Met)
c.1265+2634C>T (n.1265+2634C>T)
c.1118C>T (p.Thr373Met)
c.*1125C>T (n.*1125C>T)
c.*771C>T (n.*771C>T)
c.1388C>T (p.Thr463Met)
n.2058C>T
n.13C>T
c.1505C>T (p.Thr502Met)
c.1520C>T (p.Thr507Met)
c.*1396C>T (n.*1396C>T)
c.1472C>T (p.Thr491Met)
n.1734C>T
c.1637C>T (p.Thr546Met)
c.1466C>T (p.Thr489Met)
c.1463C>T (p.Thr488Met)
c.1613C>T (p.Thr538Met)
c.1412C>T (p.Thr471Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.69382730G>ACA470276581HK1c.1509G>A (p.Thr503=)
c.1425G>A (p.Thr475=)
c.1265+2635G>A (n.1265+2635G>A)
c.1119G>A (p.Thr373=)
c.*1126G>A (n.*1126G>A)
c.*772G>A (n.*772G>A)
c.1389G>A (p.Thr463=)
n.2059G>A
n.14G>A
c.1506G>A (p.Thr502=)
c.1521G>A (p.Thr507=)
c.*1397G>A (n.*1397G>A)
c.1473G>A (p.Thr491=)
n.1735G>A
c.1638G>A (p.Thr546=)
c.1467G>A (p.Thr489=)
c.1464G>A (p.Thr488=)
c.1614G>A (p.Thr538=)
c.1413G>A (p.Thr471=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
10g.69382730G>CCA470276582HK1c.1509G>C (p.Thr503=)
c.1425G>C (p.Thr475=)
c.1265+2635G>C (n.1265+2635G>C)
c.1119G>C (p.Thr373=)
c.*1126G>C (n.*1126G>C)
c.*772G>C (n.*772G>C)
c.1389G>C (p.Thr463=)
n.2059G>C
n.14G>C
c.1506G>C (p.Thr502=)
c.1521G>C (p.Thr507=)
c.*1397G>C (n.*1397G>C)
c.1473G>C (p.Thr491=)
n.1735G>C
c.1638G>C (p.Thr546=)
c.1467G>C (p.Thr489=)
c.1464G>C (p.Thr488=)
c.1614G>C (p.Thr538=)
c.1413G>C (p.Thr471=)
 dbSNP
10g.69382730G=CA1917772277HK1c.1509G= (p.Thr503=)
c.1425G= (p.Thr475=)
c.1265+2635G= (n.1265+2635G=)
c.1119G= (p.Thr373=)
c.*1126G= (n.*1126G=)
c.*772G= (n.*772G=)
c.1389G= (p.Thr463=)
n.2059G=
n.14G=
c.1506G= (p.Thr502=)
c.1521G= (p.Thr507=)
c.*1397G= (n.*1397G=)
c.1473G= (p.Thr491=)
n.1735G=
c.1638G= (p.Thr546=)
c.1467G= (p.Thr489=)
c.1464G= (p.Thr488=)
c.1614G= (p.Thr538=)
c.1413G= (p.Thr471=)
10g.69382730G>TCA470276580HK1c.1509G>T (p.Thr503=)
c.1425G>T (p.Thr475=)
c.1265+2635G>T (n.1265+2635G>T)
c.1119G>T (p.Thr373=)
c.*1126G>T (n.*1126G>T)
c.*772G>T (n.*772G>T)
c.1389G>T (p.Thr463=)
n.2059G>T
n.14G>T
c.1506G>T (p.Thr502=)
c.1521G>T (p.Thr507=)
c.*1397G>T (n.*1397G>T)
c.1473G>T (p.Thr491=)
n.1735G>T
c.1638G>T (p.Thr546=)
c.1467G>T (p.Thr489=)
c.1464G>T (p.Thr488=)
c.1614G>T (p.Thr538=)
c.1413G>T (p.Thr471=)
 gnomAD v4
10g.69382731C>ACA209213206HK1c.1510C>A (p.His504Asn)
c.1426C>A (p.His476Asn)
c.1265+2636C>A (n.1265+2636C>A)
c.1120C>A (p.His374Asn)
c.*1127C>A (n.*1127C>A)
c.*773C>A (n.*773C>A)
c.1390C>A (p.His464Asn)
n.2060C>A
n.15C>A
c.1507C>A (p.His503Asn)
c.1522C>A (p.His508Asn)
c.*1398C>A (n.*1398C>A)
c.1474C>A (p.His492Asn)
n.1736C>A
c.1639C>A (p.His547Asn)
c.1468C>A (p.His490Asn)
c.1465C>A (p.His489Asn)
c.1615C>A (p.His539Asn)
c.1414C>A (p.His472Asn)
 dbSNP gnomAD v4
10g.69382731C=CA1917772282HK1c.1510C= (p.His504=)
c.1426C= (p.His476=)
c.1265+2636C= (n.1265+2636C=)
c.1120C= (p.His374=)
c.*1127C= (n.*1127C=)
c.*773C= (n.*773C=)
c.1390C= (p.His464=)
n.2060C=
n.15C=
c.1507C= (p.His503=)
c.1522C= (p.His508=)
c.*1398C= (n.*1398C=)
c.1474C= (p.His492=)
n.1736C=
c.1639C= (p.His547=)
c.1468C= (p.His490=)
c.1465C= (p.His489=)
c.1615C= (p.His539=)
c.1414C= (p.His472=)
10g.69382731C>GCA376910141HK1c.1510C>G (p.His504Asp)
c.1426C>G (p.His476Asp)
c.1265+2636C>G (n.1265+2636C>G)
c.1120C>G (p.His374Asp)
c.*1127C>G (n.*1127C>G)
c.*773C>G (n.*773C>G)
c.1390C>G (p.His464Asp)
n.2060C>G
n.15C>G
c.1507C>G (p.His503Asp)
c.1522C>G (p.His508Asp)
c.*1398C>G (n.*1398C>G)
c.1474C>G (p.His492Asp)
n.1736C>G
c.1639C>G (p.His547Asp)
c.1468C>G (p.His490Asp)
c.1465C>G (p.His489Asp)
c.1615C>G (p.His539Asp)
c.1414C>G (p.His472Asp)
 dbSNP
10g.69382731C>TCA376910143HK1c.1510C>T (p.His504Tyr)
c.1426C>T (p.His476Tyr)
c.1265+2636C>T (n.1265+2636C>T)
c.1120C>T (p.His374Tyr)
c.*1127C>T (n.*1127C>T)
c.*773C>T (n.*773C>T)
c.1390C>T (p.His464Tyr)
n.2060C>T
n.15C>T
c.1507C>T (p.His503Tyr)
c.1522C>T (p.His508Tyr)
c.*1398C>T (n.*1398C>T)
c.1474C>T (p.His492Tyr)
n.1736C>T
c.1639C>T (p.His547Tyr)
c.1468C>T (p.His490Tyr)
c.1465C>T (p.His489Tyr)
c.1615C>T (p.His539Tyr)
c.1414C>T (p.His472Tyr)
10g.69382732A>CCA376910146HK1c.1511A>C (p.His504Pro)
c.1427A>C (p.His476Pro)
c.1265+2637A>C (n.1265+2637A>C)
c.1121A>C (p.His374Pro)
c.*1128A>C (n.*1128A>C)
c.*774A>C (n.*774A>C)
c.1391A>C (p.His464Pro)
n.2061A>C
n.16A>C
c.1508A>C (p.His503Pro)
c.1523A>C (p.His508Pro)
c.*1399A>C (n.*1399A>C)
c.1475A>C (p.His492Pro)
n.1737A>C
c.1640A>C (p.His547Pro)
c.1469A>C (p.His490Pro)
c.1466A>C (p.His489Pro)
c.1616A>C (p.His539Pro)
c.1415A>C (p.His472Pro)
10g.69382732A>GCA376910147HK1c.1511A>G (p.His504Arg)
c.1427A>G (p.His476Arg)
c.1265+2637A>G (n.1265+2637A>G)
c.1121A>G (p.His374Arg)
c.*1128A>G (n.*1128A>G)
c.*774A>G (n.*774A>G)
c.1391A>G (p.His464Arg)
n.2061A>G
n.16A>G
c.1508A>G (p.His503Arg)
c.1523A>G (p.His508Arg)
c.*1399A>G (n.*1399A>G)
c.1475A>G (p.His492Arg)
n.1737A>G
c.1640A>G (p.His547Arg)
c.1469A>G (p.His490Arg)
c.1466A>G (p.His489Arg)
c.1616A>G (p.His539Arg)
c.1415A>G (p.His472Arg)
10g.69382732A>TCA376910150HK1c.1511A>T (p.His504Leu)
c.1427A>T (p.His476Leu)
c.1265+2637A>T (n.1265+2637A>T)
c.1121A>T (p.His374Leu)
c.*1128A>T (n.*1128A>T)
c.*774A>T (n.*774A>T)
c.1391A>T (p.His464Leu)
n.2061A>T
n.16A>T
c.1508A>T (p.His503Leu)
c.1523A>T (p.His508Leu)
c.*1399A>T (n.*1399A>T)
c.1475A>T (p.His492Leu)
n.1737A>T
c.1640A>T (p.His547Leu)
c.1469A>T (p.His490Leu)
c.1466A>T (p.His489Leu)
c.1616A>T (p.His539Leu)
c.1415A>T (p.His472Leu)
10g.69382733C>ACA376910152HK1c.1512C>A (p.His504Gln)
c.1428C>A (p.His476Gln)
c.1265+2638C>A (n.1265+2638C>A)
c.1122C>A (p.His374Gln)
c.*1129C>A (n.*1129C>A)
c.*775C>A (n.*775C>A)
c.1392C>A (p.His464Gln)
n.2062C>A
n.17C>A
c.1509C>A (p.His503Gln)
c.1524C>A (p.His508Gln)
c.*1400C>A (n.*1400C>A)
c.1476C>A (p.His492Gln)
n.1738C>A
c.1641C>A (p.His547Gln)
c.1470C>A (p.His490Gln)
c.1467C>A (p.His489Gln)
c.1617C>A (p.His539Gln)
c.1416C>A (p.His472Gln)
10g.69382733C>GCA376910154HK1c.1512C>G (p.His504Gln)
c.1428C>G (p.His476Gln)
c.1265+2638C>G (n.1265+2638C>G)
c.1122C>G (p.His374Gln)
c.*1129C>G (n.*1129C>G)
c.*775C>G (n.*775C>G)
c.1392C>G (p.His464Gln)
n.2062C>G
n.17C>G
c.1509C>G (p.His503Gln)
c.1524C>G (p.His508Gln)
c.*1400C>G (n.*1400C>G)
c.1476C>G (p.His492Gln)
n.1738C>G
c.1641C>G (p.His547Gln)
c.1470C>G (p.His490Gln)
c.1467C>G (p.His489Gln)
c.1617C>G (p.His539Gln)
c.1416C>G (p.His472Gln)
10g.69382733C>TCA470276584HK1c.1512C>T (p.His504=)
c.1428C>T (p.His476=)
c.1265+2638C>T (n.1265+2638C>T)
c.1122C>T (p.His374=)
c.*1129C>T (n.*1129C>T)
c.*775C>T (n.*775C>T)
c.1392C>T (p.His464=)
n.2062C>T
n.17C>T
c.1509C>T (p.His503=)
c.1524C>T (p.His508=)
c.*1400C>T (n.*1400C>T)
c.1476C>T (p.His492=)
n.1738C>T
c.1641C>T (p.His547=)
c.1470C>T (p.His490=)
c.1467C>T (p.His489=)
c.1617C>T (p.His539=)
c.1416C>T (p.His472=)
10g.69382734A=CA1917772284HK1c.1513A= (p.Asn505=)
c.1429A= (p.Asn477=)
c.1265+2639A= (n.1265+2639A=)
c.1123A= (p.Asn375=)
c.*1130A= (n.*1130A=)
c.*776A= (n.*776A=)
c.1393A= (p.Asn465=)
n.2063A=
n.18A=
c.1510A= (p.Asn504=)
c.1525A= (p.Asn509=)
c.*1401A= (n.*1401A=)
c.1477A= (p.Asn493=)
n.1739A=
c.1642A= (p.Asn548=)
c.1471A= (p.Asn491=)
c.1468A= (p.Asn490=)
c.1618A= (p.Asn540=)
c.1417A= (p.Asn473=)
10g.69382734A>CCA376910156HK1c.1513A>C (p.Asn505His)
c.1429A>C (p.Asn477His)
c.1265+2639A>C (n.1265+2639A>C)
c.1123A>C (p.Asn375His)
c.*1130A>C (n.*1130A>C)
c.*776A>C (n.*776A>C)
c.1393A>C (p.Asn465His)
n.2063A>C
n.18A>C
c.1510A>C (p.Asn504His)
c.1525A>C (p.Asn509His)
c.*1401A>C (n.*1401A>C)
c.1477A>C (p.Asn493His)
n.1739A>C
c.1642A>C (p.Asn548His)
c.1471A>C (p.Asn491His)
c.1468A>C (p.Asn490His)
c.1618A>C (p.Asn540His)
c.1417A>C (p.Asn473His)
10g.69382734A>GCA5532613HK1c.1513A>G (p.Asn505Asp)
c.1429A>G (p.Asn477Asp)
c.1265+2639A>G (n.1265+2639A>G)
c.1123A>G (p.Asn375Asp)
c.*1130A>G (n.*1130A>G)
c.*776A>G (n.*776A>G)
c.1393A>G (p.Asn465Asp)
n.2063A>G
n.18A>G
c.1510A>G (p.Asn504Asp)
c.1525A>G (p.Asn509Asp)
c.*1401A>G (n.*1401A>G)
c.1477A>G (p.Asn493Asp)
n.1739A>G
c.1642A>G (p.Asn548Asp)
c.1471A>G (p.Asn491Asp)
c.1468A>G (p.Asn490Asp)
c.1618A>G (p.Asn540Asp)
c.1417A>G (p.Asn473Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.69382734A>TCA376910159HK1c.1513A>T (p.Asn505Tyr)
c.1429A>T (p.Asn477Tyr)
c.1265+2639A>T (n.1265+2639A>T)
c.1123A>T (p.Asn375Tyr)
c.*1130A>T (n.*1130A>T)
c.*776A>T (n.*776A>T)
c.1393A>T (p.Asn465Tyr)
n.2063A>T
n.18A>T
c.1510A>T (p.Asn504Tyr)
c.1525A>T (p.Asn509Tyr)
c.*1401A>T (n.*1401A>T)
c.1477A>T (p.Asn493Tyr)
n.1739A>T
c.1642A>T (p.Asn548Tyr)
c.1471A>T (p.Asn491Tyr)
c.1468A>T (p.Asn490Tyr)
c.1618A>T (p.Asn540Tyr)
c.1417A>T (p.Asn473Tyr)
10g.69382735A>CCA376910161HK1c.1514A>C (p.Asn505Thr)
c.1430A>C (p.Asn477Thr)
c.1265+2640A>C (n.1265+2640A>C)
c.1124A>C (p.Asn375Thr)
c.*1131A>C (n.*1131A>C)
c.*777A>C (n.*777A>C)
c.1394A>C (p.Asn465Thr)
n.2064A>C
n.19A>C
c.1511A>C (p.Asn504Thr)
c.1526A>C (p.Asn509Thr)
c.*1402A>C (n.*1402A>C)
c.1478A>C (p.Asn493Thr)
n.1740A>C
c.1643A>C (p.Asn548Thr)
c.1472A>C (p.Asn491Thr)
c.1469A>C (p.Asn490Thr)
c.1619A>C (p.Asn540Thr)
c.1418A>C (p.Asn473Thr)
10g.69382735A>GCA376910164HK1c.1514A>G (p.Asn505Ser)
c.1430A>G (p.Asn477Ser)
c.1265+2640A>G (n.1265+2640A>G)
c.1124A>G (p.Asn375Ser)
c.*1131A>G (n.*1131A>G)
c.*777A>G (n.*777A>G)
c.1394A>G (p.Asn465Ser)
n.2064A>G
n.19A>G
c.1511A>G (p.Asn504Ser)
c.1526A>G (p.Asn509Ser)
c.*1402A>G (n.*1402A>G)
c.1478A>G (p.Asn493Ser)
n.1740A>G
c.1643A>G (p.Asn548Ser)
c.1472A>G (p.Asn491Ser)
c.1469A>G (p.Asn490Ser)
c.1619A>G (p.Asn540Ser)
c.1418A>G (p.Asn473Ser)
 ClinVar dbSNP gnomAD v4
10g.69382735A>TCA376910165HK1c.1514A>T (p.Asn505Ile)
c.1430A>T (p.Asn477Ile)
c.1265+2640A>T (n.1265+2640A>T)
c.1124A>T (p.Asn375Ile)
c.*1131A>T (n.*1131A>T)
c.*777A>T (n.*777A>T)
c.1394A>T (p.Asn465Ile)
n.2064A>T
n.19A>T
c.1511A>T (p.Asn504Ile)
c.1526A>T (p.Asn509Ile)
c.*1402A>T (n.*1402A>T)
c.1478A>T (p.Asn493Ile)
n.1740A>T
c.1643A>T (p.Asn548Ile)
c.1472A>T (p.Asn491Ile)
c.1469A>T (p.Asn490Ile)
c.1619A>T (p.Asn540Ile)
c.1418A>T (p.Asn473Ile)
10g.69382736C>ACA376910171HK1c.1515C>A (p.Asn505Lys)
c.1431C>A (p.Asn477Lys)
c.1265+2641C>A (n.1265+2641C>A)
c.1125C>A (p.Asn375Lys)
c.*1132C>A (n.*1132C>A)
c.*778C>A (n.*778C>A)
c.1395C>A (p.Asn465Lys)
n.2065C>A
n.20C>A
c.1512C>A (p.Asn504Lys)
c.1527C>A (p.Asn509Lys)
c.*1403C>A (n.*1403C>A)
c.1479C>A (p.Asn493Lys)
n.1741C>A
c.1644C>A (p.Asn548Lys)
c.1473C>A (p.Asn491Lys)
c.1470C>A (p.Asn490Lys)
c.1620C>A (p.Asn540Lys)
c.1419C>A (p.Asn473Lys)
10g.69382736C=CA1917772285HK1c.1515C= (p.Asn505=)
c.1431C= (p.Asn477=)
c.1265+2641C= (n.1265+2641C=)
c.1125C= (p.Asn375=)
c.*1132C= (n.*1132C=)
c.*778C= (n.*778C=)
c.1395C= (p.Asn465=)
n.2065C=
n.20C=
c.1512C= (p.Asn504=)
c.1527C= (p.Asn509=)
c.*1403C= (n.*1403C=)
c.1479C= (p.Asn493=)
n.1741C=
c.1644C= (p.Asn548=)
c.1473C= (p.Asn491=)
c.1470C= (p.Asn490=)
c.1620C= (p.Asn540=)
c.1419C= (p.Asn473=)
10g.69382736C>GCA376910169HK1c.1515C>G (p.Asn505Lys)
c.1431C>G (p.Asn477Lys)
c.1265+2641C>G (n.1265+2641C>G)
c.1125C>G (p.Asn375Lys)
c.*1132C>G (n.*1132C>G)
c.*778C>G (n.*778C>G)
c.1395C>G (p.Asn465Lys)
n.2065C>G
n.20C>G
c.1512C>G (p.Asn504Lys)
c.1527C>G (p.Asn509Lys)
c.*1403C>G (n.*1403C>G)
c.1479C>G (p.Asn493Lys)
n.1741C>G
c.1644C>G (p.Asn548Lys)
c.1473C>G (p.Asn491Lys)
c.1470C>G (p.Asn490Lys)
c.1620C>G (p.Asn540Lys)
c.1419C>G (p.Asn473Lys)
10g.69382736C>TCA5532614HK1c.1515C>T (p.Asn505=)
c.1431C>T (p.Asn477=)
c.1265+2641C>T (n.1265+2641C>T)
c.1125C>T (p.Asn375=)
c.*1132C>T (n.*1132C>T)
c.*778C>T (n.*778C>T)
c.1395C>T (p.Asn465=)
n.2065C>T
n.20C>T
c.1512C>T (p.Asn504=)
c.1527C>T (p.Asn509=)
c.*1403C>T (n.*1403C>T)
c.1479C>T (p.Asn493=)
n.1741C>T
c.1644C>T (p.Asn548=)
c.1473C>T (p.Asn491=)
c.1470C>T (p.Asn490=)
c.1620C>T (p.Asn540=)
c.1419C>T (p.Asn473=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.69382737A>CCA376910174HK1c.1516A>C (p.Asn506His)
c.1432A>C (p.Asn478His)
c.1265+2642A>C (n.1265+2642A>C)
c.1126A>C (p.Asn376His)
c.*1133A>C (n.*1133A>C)
c.*779A>C (n.*779A>C)
c.1396A>C (p.Asn466His)
n.2066A>C
n.21A>C
c.1513A>C (p.Asn505His)
c.1528A>C (p.Asn510His)
c.*1404A>C (n.*1404A>C)
c.1480A>C (p.Asn494His)
n.1742A>C
c.1645A>C (p.Asn549His)
c.1474A>C (p.Asn492His)
c.1471A>C (p.Asn491His)
c.1621A>C (p.Asn541His)
c.1420A>C (p.Asn474His)
10g.69382737A>GCA376910176HK1c.1516A>G (p.Asn506Asp)
c.1432A>G (p.Asn478Asp)
c.1265+2642A>G (n.1265+2642A>G)
c.1126A>G (p.Asn376Asp)
c.*1133A>G (n.*1133A>G)
c.*779A>G (n.*779A>G)
c.1396A>G (p.Asn466Asp)
n.2066A>G
n.21A>G
c.1513A>G (p.Asn505Asp)
c.1528A>G (p.Asn510Asp)
c.*1404A>G (n.*1404A>G)
c.1480A>G (p.Asn494Asp)
n.1742A>G
c.1645A>G (p.Asn549Asp)
c.1474A>G (p.Asn492Asp)
c.1471A>G (p.Asn491Asp)
c.1621A>G (p.Asn541Asp)
c.1420A>G (p.Asn474Asp)
10g.69382737A>TCA376910178HK1c.1516A>T (p.Asn506Tyr)
c.1432A>T (p.Asn478Tyr)
c.1265+2642A>T (n.1265+2642A>T)
c.1126A>T (p.Asn376Tyr)
c.*1133A>T (n.*1133A>T)
c.*779A>T (n.*779A>T)
c.1396A>T (p.Asn466Tyr)
n.2066A>T
n.21A>T
c.1513A>T (p.Asn505Tyr)
c.1528A>T (p.Asn510Tyr)
c.*1404A>T (n.*1404A>T)
c.1480A>T (p.Asn494Tyr)
n.1742A>T
c.1645A>T (p.Asn549Tyr)
c.1474A>T (p.Asn492Tyr)
c.1471A>T (p.Asn491Tyr)
c.1621A>T (p.Asn541Tyr)
c.1420A>T (p.Asn474Tyr)
10g.69382738A>CCA376910180HK1c.1517A>C (p.Asn506Thr)
c.1433A>C (p.Asn478Thr)
c.1265+2643A>C (n.1265+2643A>C)
c.1127A>C (p.Asn376Thr)
c.*1134A>C (n.*1134A>C)
c.*780A>C (n.*780A>C)
c.1397A>C (p.Asn466Thr)
n.2067A>C
n.22A>C
c.1514A>C (p.Asn505Thr)
c.1529A>C (p.Asn510Thr)
c.*1405A>C (n.*1405A>C)
c.1481A>C (p.Asn494Thr)
n.1743A>C
c.1646A>C (p.Asn549Thr)
c.1475A>C (p.Asn492Thr)
c.1472A>C (p.Asn491Thr)
c.1622A>C (p.Asn541Thr)
c.1421A>C (p.Asn474Thr)
10g.69382738A>GCA376910182HK1c.1517A>G (p.Asn506Ser)
c.1433A>G (p.Asn478Ser)
c.1265+2643A>G (n.1265+2643A>G)
c.1127A>G (p.Asn376Ser)
c.*1134A>G (n.*1134A>G)
c.*780A>G (n.*780A>G)
c.1397A>G (p.Asn466Ser)
n.2067A>G
n.22A>G
c.1514A>G (p.Asn505Ser)
c.1529A>G (p.Asn510Ser)
c.*1405A>G (n.*1405A>G)
c.1481A>G (p.Asn494Ser)
n.1743A>G
c.1646A>G (p.Asn549Ser)
c.1475A>G (p.Asn492Ser)
c.1472A>G (p.Asn491Ser)
c.1622A>G (p.Asn541Ser)
c.1421A>G (p.Asn474Ser)
10g.69382738A>TCA376910184HK1c.1517A>T (p.Asn506Ile)
c.1433A>T (p.Asn478Ile)
c.1265+2643A>T (n.1265+2643A>T)
c.1127A>T (p.Asn376Ile)
c.*1134A>T (n.*1134A>T)
c.*780A>T (n.*780A>T)
c.1397A>T (p.Asn466Ile)
n.2067A>T
n.22A>T
c.1514A>T (p.Asn505Ile)
c.1529A>T (p.Asn510Ile)
c.*1405A>T (n.*1405A>T)
c.1481A>T (p.Asn494Ile)
n.1743A>T
c.1646A>T (p.Asn549Ile)
c.1475A>T (p.Asn492Ile)
c.1472A>T (p.Asn491Ile)
c.1622A>T (p.Asn541Ile)
c.1421A>T (p.Asn474Ile)
10g.69382739T>ACA376910186HK1c.1518T>A (p.Asn506Lys)
c.1434T>A (p.Asn478Lys)
c.1265+2644T>A (n.1265+2644T>A)
c.1128T>A (p.Asn376Lys)
c.*1135T>A (n.*1135T>A)
c.*781T>A (n.*781T>A)
c.1398T>A (p.Asn466Lys)
n.2068T>A
n.23T>A
c.1515T>A (p.Asn505Lys)
c.1530T>A (p.Asn510Lys)
c.*1406T>A (n.*1406T>A)
c.1482T>A (p.Asn494Lys)
n.1744T>A
c.1647T>A (p.Asn549Lys)
c.1476T>A (p.Asn492Lys)
c.1473T>A (p.Asn491Lys)
c.1623T>A (p.Asn541Lys)
c.1422T>A (p.Asn474Lys)
10g.69382739T>CCA470276585HK1c.1518T>C (p.Asn506=)
c.1434T>C (p.Asn478=)
c.1265+2644T>C (n.1265+2644T>C)
c.1128T>C (p.Asn376=)
c.*1135T>C (n.*1135T>C)
c.*781T>C (n.*781T>C)
c.1398T>C (p.Asn466=)
n.2068T>C
n.23T>C
c.1515T>C (p.Asn505=)
c.1530T>C (p.Asn510=)
c.*1406T>C (n.*1406T>C)
c.1482T>C (p.Asn494=)
n.1744T>C
c.1647T>C (p.Asn549=)
c.1476T>C (p.Asn492=)
c.1473T>C (p.Asn491=)
c.1623T>C (p.Asn541=)
c.1422T>C (p.Asn474=)
 gnomAD v4
10g.69382739T>GCA376910188HK1c.1518T>G (p.Asn506Lys)
c.1434T>G (p.Asn478Lys)
c.1265+2644T>G (n.1265+2644T>G)
c.1128T>G (p.Asn376Lys)
c.*1135T>G (n.*1135T>G)
c.*781T>G (n.*781T>G)
c.1398T>G (p.Asn466Lys)
n.2068T>G
n.23T>G
c.1515T>G (p.Asn505Lys)
c.1530T>G (p.Asn510Lys)
c.*1406T>G (n.*1406T>G)
c.1482T>G (p.Asn494Lys)
n.1744T>G
c.1647T>G (p.Asn549Lys)
c.1476T>G (p.Asn492Lys)
c.1473T>G (p.Asn491Lys)
c.1623T>G (p.Asn541Lys)
c.1422T>G (p.Asn474Lys)
10g.69382740G>ACA376910189HK1c.1519G>A (p.Ala507Thr)
c.1435G>A (p.Ala479Thr)
c.1265+2645G>A (n.1265+2645G>A)
c.1129G>A (p.Ala377Thr)
c.*1136G>A (n.*1136G>A)
c.*782G>A (n.*782G>A)
c.1399G>A (p.Ala467Thr)
n.2069G>A
n.24G>A
c.1516G>A (p.Ala506Thr)
c.1531G>A (p.Ala511Thr)
c.*1407G>A (n.*1407G>A)
c.1483G>A (p.Ala495Thr)
n.1745G>A
c.1648G>A (p.Ala550Thr)
c.1477G>A (p.Ala493Thr)
c.1474G>A (p.Ala492Thr)
c.1624G>A (p.Ala542Thr)
c.1423G>A (p.Ala475Thr)
10g.69382740G>CCA376910191HK1c.1519G>C (p.Ala507Pro)
c.1435G>C (p.Ala479Pro)
c.1265+2645G>C (n.1265+2645G>C)
c.1129G>C (p.Ala377Pro)
c.*1136G>C (n.*1136G>C)
c.*782G>C (n.*782G>C)
c.1399G>C (p.Ala467Pro)
n.2069G>C
n.24G>C
c.1516G>C (p.Ala506Pro)
c.1531G>C (p.Ala511Pro)
c.*1407G>C (n.*1407G>C)
c.1483G>C (p.Ala495Pro)
n.1745G>C
c.1648G>C (p.Ala550Pro)
c.1477G>C (p.Ala493Pro)
c.1474G>C (p.Ala492Pro)
c.1624G>C (p.Ala542Pro)
c.1423G>C (p.Ala475Pro)
10g.69382740G=CA1917772293HK1c.1519G= (p.Ala507=)
c.1435G= (p.Ala479=)
c.1265+2645G= (n.1265+2645G=)
c.1129G= (p.Ala377=)
c.*1136G= (n.*1136G=)
c.*782G= (n.*782G=)
c.1399G= (p.Ala467=)
n.2069G=
n.24G=
c.1516G= (p.Ala506=)
c.1531G= (p.Ala511=)
c.*1407G= (n.*1407G=)
c.1483G= (p.Ala495=)
n.1745G=
c.1648G= (p.Ala550=)
c.1477G= (p.Ala493=)
c.1474G= (p.Ala492=)
c.1624G= (p.Ala542=)
c.1423G= (p.Ala475=)
10g.69382740G>TCA376910193HK1c.1519G>T (p.Ala507Ser)
c.1435G>T (p.Ala479Ser)
c.1265+2645G>T (n.1265+2645G>T)
c.1129G>T (p.Ala377Ser)
c.*1136G>T (n.*1136G>T)
c.*782G>T (n.*782G>T)
c.1399G>T (p.Ala467Ser)
n.2069G>T
n.24G>T
c.1516G>T (p.Ala506Ser)
c.1531G>T (p.Ala511Ser)
c.*1407G>T (n.*1407G>T)
c.1483G>T (p.Ala495Ser)
n.1745G>T
c.1648G>T (p.Ala550Ser)
c.1477G>T (p.Ala493Ser)
c.1474G>T (p.Ala492Ser)
c.1624G>T (p.Ala542Ser)
c.1423G>T (p.Ala475Ser)
 dbSNP gnomAD v3 gnomAD v4
10g.69382741C>ACA376910196HK1c.1520C>A (p.Ala507Asp)
c.1436C>A (p.Ala479Asp)
c.1265+2646C>A (n.1265+2646C>A)
c.1130C>A (p.Ala377Asp)
c.*1137C>A (n.*1137C>A)
c.*783C>A (n.*783C>A)
c.1400C>A (p.Ala467Asp)
n.2070C>A
n.25C>A
c.1517C>A (p.Ala506Asp)
c.1532C>A (p.Ala511Asp)
c.*1408C>A (n.*1408C>A)
c.1484C>A (p.Ala495Asp)
n.1746C>A
c.1649C>A (p.Ala550Asp)
c.1478C>A (p.Ala493Asp)
c.1475C>A (p.Ala492Asp)
c.1625C>A (p.Ala542Asp)
c.1424C>A (p.Ala475Asp)
 ClinVar
10g.69382741C>GCA376910197HK1c.1520C>G (p.Ala507Gly)
c.1436C>G (p.Ala479Gly)
c.1265+2646C>G (n.1265+2646C>G)
c.1130C>G (p.Ala377Gly)
c.*1137C>G (n.*1137C>G)
c.*783C>G (n.*783C>G)
c.1400C>G (p.Ala467Gly)
n.2070C>G
n.25C>G
c.1517C>G (p.Ala506Gly)
c.1532C>G (p.Ala511Gly)
c.*1408C>G (n.*1408C>G)
c.1484C>G (p.Ala495Gly)
n.1746C>G
c.1649C>G (p.Ala550Gly)
c.1478C>G (p.Ala493Gly)
c.1475C>G (p.Ala492Gly)
c.1625C>G (p.Ala542Gly)
c.1424C>G (p.Ala475Gly)
10g.69382741C>TCA376910199HK1c.1520C>T (p.Ala507Val)
c.1436C>T (p.Ala479Val)
c.1265+2646C>T (n.1265+2646C>T)
c.1130C>T (p.Ala377Val)
c.*1137C>T (n.*1137C>T)
c.*783C>T (n.*783C>T)
c.1400C>T (p.Ala467Val)
n.2070C>T
n.25C>T
c.1517C>T (p.Ala506Val)
c.1532C>T (p.Ala511Val)
c.*1408C>T (n.*1408C>T)
c.1484C>T (p.Ala495Val)
n.1746C>T
c.1649C>T (p.Ala550Val)
c.1478C>T (p.Ala493Val)
c.1475C>T (p.Ala492Val)
c.1625C>T (p.Ala542Val)
c.1424C>T (p.Ala475Val)
 ClinVar dbSNP
10g.69382742C>ACA470276587HK1c.1521C>A (p.Ala507=)
c.1437C>A (p.Ala479=)
c.1265+2647C>A (n.1265+2647C>A)
c.1131C>A (p.Ala377=)
c.*1138C>A (n.*1138C>A)
c.*784C>A (n.*784C>A)
c.1401C>A (p.Ala467=)
n.2071C>A
n.26C>A
c.1518C>A (p.Ala506=)
c.1533C>A (p.Ala511=)
c.*1409C>A (n.*1409C>A)
c.1485C>A (p.Ala495=)
n.1747C>A
c.1650C>A (p.Ala550=)
c.1479C>A (p.Ala493=)
c.1476C>A (p.Ala492=)
c.1626C>A (p.Ala542=)
c.1425C>A (p.Ala475=)
10g.69382742C=CA1917772296HK1c.1521C= (p.Ala507=)
c.1437C= (p.Ala479=)
c.1265+2647C= (n.1265+2647C=)
c.1131C= (p.Ala377=)
c.*1138C= (n.*1138C=)
c.*784C= (n.*784C=)
c.1401C= (p.Ala467=)
n.2071C=
n.26C=
c.1518C= (p.Ala506=)
c.1533C= (p.Ala511=)
c.*1409C= (n.*1409C=)
c.1485C= (p.Ala495=)
n.1747C=
c.1650C= (p.Ala550=)
c.1479C= (p.Ala493=)
c.1476C= (p.Ala492=)
c.1626C= (p.Ala542=)
c.1425C= (p.Ala475=)
10g.69382742C>GCA5532616HK1c.1521C>G (p.Ala507=)
c.1437C>G (p.Ala479=)
c.1265+2647C>G (n.1265+2647C>G)
c.1131C>G (p.Ala377=)
c.*1138C>G (n.*1138C>G)
c.*784C>G (n.*784C>G)
c.1401C>G (p.Ala467=)
n.2071C>G
n.26C>G
c.1518C>G (p.Ala506=)
c.1533C>G (p.Ala511=)
c.*1409C>G (n.*1409C>G)
c.1485C>G (p.Ala495=)
n.1747C>G
c.1650C>G (p.Ala550=)
c.1479C>G (p.Ala493=)
c.1476C>G (p.Ala492=)
c.1626C>G (p.Ala542=)
c.1425C>G (p.Ala475=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.69382742C>TCA5532615HK1c.1521C>T (p.Ala507=)
c.1437C>T (p.Ala479=)
c.1265+2647C>T (n.1265+2647C>T)
c.1131C>T (p.Ala377=)
c.*1138C>T (n.*1138C>T)
c.*784C>T (n.*784C>T)
c.1401C>T (p.Ala467=)
n.2071C>T
n.26C>T
c.1518C>T (p.Ala506=)
c.1533C>T (p.Ala511=)
c.*1409C>T (n.*1409C>T)
c.1485C>T (p.Ala495=)
n.1747C>T
c.1650C>T (p.Ala550=)
c.1479C>T (p.Ala493=)
c.1476C>T (p.Ala492=)
c.1626C>T (p.Ala542=)
c.1425C>T (p.Ala475=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.69382743G>ACA5532617HK1c.1522G>A (p.Val508Met)
c.1438G>A (p.Val480Met)
c.1265+2648G>A (n.1265+2648G>A)
c.1132G>A (p.Val378Met)
c.*1139G>A (n.*1139G>A)
c.*785G>A (n.*785G>A)
c.1402G>A (p.Val468Met)
n.2072G>A
n.27G>A
c.1519G>A (p.Val507Met)
c.1534G>A (p.Val512Met)
c.*1410G>A (n.*1410G>A)
c.1486G>A (p.Val496Met)
n.1748G>A
c.1651G>A (p.Val551Met)
c.1480G>A (p.Val494Met)
c.1477G>A (p.Val493Met)
c.1627G>A (p.Val543Met)
c.1426G>A (p.Val476Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.69382743G>CCA376910207HK1c.1522G>C (p.Val508Leu)
c.1438G>C (p.Val480Leu)
c.1265+2648G>C (n.1265+2648G>C)
c.1132G>C (p.Val378Leu)
c.*1139G>C (n.*1139G>C)
c.*785G>C (n.*785G>C)
c.1402G>C (p.Val468Leu)
n.2072G>C
n.27G>C
c.1519G>C (p.Val507Leu)
c.1534G>C (p.Val512Leu)
c.*1410G>C (n.*1410G>C)
c.1486G>C (p.Val496Leu)
n.1748G>C
c.1651G>C (p.Val551Leu)
c.1480G>C (p.Val494Leu)
c.1477G>C (p.Val493Leu)
c.1627G>C (p.Val543Leu)
c.1426G>C (p.Val476Leu)
10g.69382743G=CA1917772297HK1c.1522G= (p.Val508=)
c.1438G= (p.Val480=)
c.1265+2648G= (n.1265+2648G=)
c.1132G= (p.Val378=)
c.*1139G= (n.*1139G=)
c.*785G= (n.*785G=)
c.1402G= (p.Val468=)
n.2072G=
n.27G=
c.1519G= (p.Val507=)
c.1534G= (p.Val512=)
c.*1410G= (n.*1410G=)
c.1486G= (p.Val496=)
n.1748G=
c.1651G= (p.Val551=)
c.1480G= (p.Val494=)
c.1477G= (p.Val493=)
c.1627G= (p.Val543=)
c.1426G= (p.Val476=)
10g.69382743G>TCA376910209HK1c.1522G>T (p.Val508Leu)
c.1438G>T (p.Val480Leu)
c.1265+2648G>T (n.1265+2648G>T)
c.1132G>T (p.Val378Leu)
c.*1139G>T (n.*1139G>T)
c.*785G>T (n.*785G>T)
c.1402G>T (p.Val468Leu)
n.2072G>T
n.27G>T
c.1519G>T (p.Val507Leu)
c.1534G>T (p.Val512Leu)
c.*1410G>T (n.*1410G>T)
c.1486G>T (p.Val496Leu)
n.1748G>T
c.1651G>T (p.Val551Leu)
c.1480G>T (p.Val494Leu)
c.1477G>T (p.Val493Leu)
c.1627G>T (p.Val543Leu)
c.1426G>T (p.Val476Leu)
 gnomAD v4
10g.69382744T>ACA376910212HK1c.1523T>A (p.Val508Glu)
c.1439T>A (p.Val480Glu)
c.1265+2649T>A (n.1265+2649T>A)
c.1133T>A (p.Val378Glu)
c.*1140T>A (n.*1140T>A)
c.*786T>A (n.*786T>A)
c.1403T>A (p.Val468Glu)
n.2073T>A
n.28T>A
c.1520T>A (p.Val507Glu)
c.1535T>A (p.Val512Glu)
c.*1411T>A (n.*1411T>A)
c.1487T>A (p.Val496Glu)
n.1749T>A
c.1652T>A (p.Val551Glu)
c.1481T>A (p.Val494Glu)
c.1478T>A (p.Val493Glu)
c.1628T>A (p.Val543Glu)
c.1427T>A (p.Val476Glu)
10g.69382744T>CCA376910214HK1c.1523T>C (p.Val508Ala)
c.1439T>C (p.Val480Ala)
c.1265+2649T>C (n.1265+2649T>C)
c.1133T>C (p.Val378Ala)
c.*1140T>C (n.*1140T>C)
c.*786T>C (n.*786T>C)
c.1403T>C (p.Val468Ala)
n.2073T>C
n.28T>C
c.1520T>C (p.Val507Ala)
c.1535T>C (p.Val512Ala)
c.*1411T>C (n.*1411T>C)
c.1487T>C (p.Val496Ala)
n.1749T>C
c.1652T>C (p.Val551Ala)
c.1481T>C (p.Val494Ala)
c.1478T>C (p.Val493Ala)
c.1628T>C (p.Val543Ala)
c.1427T>C (p.Val476Ala)
 dbSNP
10g.69382744T>GCA376910216HK1c.1523T>G (p.Val508Gly)
c.1439T>G (p.Val480Gly)
c.1265+2649T>G (n.1265+2649T>G)
c.1133T>G (p.Val378Gly)
c.*1140T>G (n.*1140T>G)
c.*786T>G (n.*786T>G)
c.1403T>G (p.Val468Gly)
n.2073T>G
n.28T>G
c.1520T>G (p.Val507Gly)
c.1535T>G (p.Val512Gly)
c.*1411T>G (n.*1411T>G)
c.1487T>G (p.Val496Gly)
n.1749T>G
c.1652T>G (p.Val551Gly)
c.1481T>G (p.Val494Gly)
c.1478T>G (p.Val493Gly)
c.1628T>G (p.Val543Gly)
c.1427T>G (p.Val476Gly)
10g.69382745G>ACA470276590HK1c.1524G>A (p.Val508=)
c.1440G>A (p.Val480=)
c.1265+2650G>A (n.1265+2650G>A)
c.1134G>A (p.Val378=)
c.*1141G>A (n.*1141G>A)
c.*787G>A (n.*787G>A)
c.1404G>A (p.Val468=)
n.2074G>A
n.29G>A
c.1521G>A (p.Val507=)
c.1536G>A (p.Val512=)
c.*1412G>A (n.*1412G>A)
c.1488G>A (p.Val496=)
n.1750G>A
c.1653G>A (p.Val551=)
c.1482G>A (p.Val494=)
c.1479G>A (p.Val493=)
c.1629G>A (p.Val543=)
c.1428G>A (p.Val476=)
10g.69382745G>CCA470276591HK1c.1524G>C (p.Val508=)
c.1440G>C (p.Val480=)
c.1265+2650G>C (n.1265+2650G>C)
c.1134G>C (p.Val378=)
c.*1141G>C (n.*1141G>C)
c.*787G>C (n.*787G>C)
c.1404G>C (p.Val468=)
n.2074G>C
n.29G>C
c.1521G>C (p.Val507=)
c.1536G>C (p.Val512=)
c.*1412G>C (n.*1412G>C)
c.1488G>C (p.Val496=)
n.1750G>C
c.1653G>C (p.Val551=)
c.1482G>C (p.Val494=)
c.1479G>C (p.Val493=)
c.1629G>C (p.Val543=)
c.1428G>C (p.Val476=)
10g.69382745G>TCA470276592HK1c.1524G>T (p.Val508=)
c.1440G>T (p.Val480=)
c.1265+2650G>T (n.1265+2650G>T)
c.1134G>T (p.Val378=)
c.*1141G>T (n.*1141G>T)
c.*787G>T (n.*787G>T)
c.1404G>T (p.Val468=)
n.2074G>T
n.29G>T
c.1521G>T (p.Val507=)
c.1536G>T (p.Val512=)
c.*1412G>T (n.*1412G>T)
c.1488G>T (p.Val496=)
n.1750G>T
c.1653G>T (p.Val551=)
c.1482G>T (p.Val494=)
c.1479G>T (p.Val493=)
c.1629G>T (p.Val543=)
c.1428G>T (p.Val476=)
 ClinVar
10g.69382746G>ACA376910219HK1c.1525G>A (p.Val509Ile)
c.1441G>A (p.Val481Ile)
c.1265+2651G>A (n.1265+2651G>A)
c.1135G>A (p.Val379Ile)
c.*1142G>A (n.*1142G>A)
c.*788G>A (n.*788G>A)
c.1405G>A (p.Val469Ile)
n.2075G>A
n.30G>A
c.1522G>A (p.Val508Ile)
c.1537G>A (p.Val513Ile)
c.*1413G>A (n.*1413G>A)
c.1489G>A (p.Val497Ile)
n.1751G>A
c.1654G>A (p.Val552Ile)
c.1483G>A (p.Val495Ile)
c.1480G>A (p.Val494Ile)
c.1630G>A (p.Val544Ile)
c.1429G>A (p.Val477Ile)
 ClinVar dbSNP
10g.69382746G>CCA376910220HK1c.1525G>C (p.Val509Leu)
c.1441G>C (p.Val481Leu)
c.1265+2651G>C (n.1265+2651G>C)
c.1135G>C (p.Val379Leu)
c.*1142G>C (n.*1142G>C)
c.*788G>C (n.*788G>C)
c.1405G>C (p.Val469Leu)
n.2075G>C
n.30G>C
c.1522G>C (p.Val508Leu)
c.1537G>C (p.Val513Leu)
c.*1413G>C (n.*1413G>C)
c.1489G>C (p.Val497Leu)
n.1751G>C
c.1654G>C (p.Val552Leu)
c.1483G>C (p.Val495Leu)
c.1480G>C (p.Val494Leu)
c.1630G>C (p.Val544Leu)
c.1429G>C (p.Val477Leu)
10g.69382746G>TCA376910222HK1c.1525G>T (p.Val509Phe)
c.1441G>T (p.Val481Phe)
c.1265+2651G>T (n.1265+2651G>T)
c.1135G>T (p.Val379Phe)
c.*1142G>T (n.*1142G>T)
c.*788G>T (n.*788G>T)
c.1405G>T (p.Val469Phe)
n.2075G>T
n.30G>T
c.1522G>T (p.Val508Phe)
c.1537G>T (p.Val513Phe)
c.*1413G>T (n.*1413G>T)
c.1489G>T (p.Val497Phe)
n.1751G>T
c.1654G>T (p.Val552Phe)
c.1483G>T (p.Val495Phe)
c.1480G>T (p.Val494Phe)
c.1630G>T (p.Val544Phe)
c.1429G>T (p.Val477Phe)
10g.69382747T>ACA376910224HK1c.1526T>A (p.Val509Asp)
c.1442T>A (p.Val481Asp)
c.1265+2652T>A (n.1265+2652T>A)
c.1136T>A (p.Val379Asp)
c.*1143T>A (n.*1143T>A)
c.*789T>A (n.*789T>A)
c.1406T>A (p.Val469Asp)
n.2076T>A
n.31T>A
c.1523T>A (p.Val508Asp)
c.1538T>A (p.Val513Asp)
c.*1414T>A (n.*1414T>A)
c.1490T>A (p.Val497Asp)
n.1752T>A
c.1655T>A (p.Val552Asp)
c.1484T>A (p.Val495Asp)
c.1481T>A (p.Val494Asp)
c.1631T>A (p.Val544Asp)
c.1430T>A (p.Val477Asp)
10g.69382747T>CCA376910225HK1c.1526T>C (p.Val509Ala)
c.1442T>C (p.Val481Ala)
c.1265+2652T>C (n.1265+2652T>C)
c.1136T>C (p.Val379Ala)
c.*1143T>C (n.*1143T>C)
c.*789T>C (n.*789T>C)
c.1406T>C (p.Val469Ala)
n.2076T>C
n.31T>C
c.1523T>C (p.Val508Ala)
c.1538T>C (p.Val513Ala)
c.*1414T>C (n.*1414T>C)
c.1490T>C (p.Val497Ala)
n.1752T>C
c.1655T>C (p.Val552Ala)
c.1484T>C (p.Val495Ala)
c.1481T>C (p.Val494Ala)
c.1631T>C (p.Val544Ala)
c.1430T>C (p.Val477Ala)
10g.69382747T>GCA376910226HK1c.1526T>G (p.Val509Gly)
c.1442T>G (p.Val481Gly)
c.1265+2652T>G (n.1265+2652T>G)
c.1136T>G (p.Val379Gly)
c.*1143T>G (n.*1143T>G)
c.*789T>G (n.*789T>G)
c.1406T>G (p.Val469Gly)
n.2076T>G
n.31T>G
c.1523T>G (p.Val508Gly)
c.1538T>G (p.Val513Gly)
c.*1414T>G (n.*1414T>G)
c.1490T>G (p.Val497Gly)
n.1752T>G
c.1655T>G (p.Val552Gly)
c.1484T>G (p.Val495Gly)
c.1481T>G (p.Val494Gly)
c.1631T>G (p.Val544Gly)
c.1430T>G (p.Val477Gly)
10g.69382748T>ACA470276594HK1c.1527T>A (p.Val509=)
c.1443T>A (p.Val481=)
c.1265+2653T>A (n.1265+2653T>A)
c.1137T>A (p.Val379=)
c.*1144T>A (n.*1144T>A)
c.*790T>A (n.*790T>A)
c.1407T>A (p.Val469=)
n.2077T>A
n.32T>A
c.1524T>A (p.Val508=)
c.1539T>A (p.Val513=)
c.*1415T>A (n.*1415T>A)
c.1491T>A (p.Val497=)
n.1753T>A
c.1656T>A (p.Val552=)
c.1485T>A (p.Val495=)
c.1482T>A (p.Val494=)
c.1632T>A (p.Val544=)
c.1431T>A (p.Val477=)
 dbSNP
10g.69382748T>CCA470276596HK1c.1527T>C (p.Val509=)
c.1443T>C (p.Val481=)
c.1265+2653T>C (n.1265+2653T>C)
c.1137T>C (p.Val379=)
c.*1144T>C (n.*1144T>C)
c.*790T>C (n.*790T>C)
c.1407T>C (p.Val469=)
n.2077T>C
n.32T>C
c.1524T>C (p.Val508=)
c.1539T>C (p.Val513=)
c.*1415T>C (n.*1415T>C)
c.1491T>C (p.Val497=)
n.1753T>C
c.1656T>C (p.Val552=)
c.1485T>C (p.Val495=)
c.1482T>C (p.Val494=)
c.1632T>C (p.Val544=)
c.1431T>C (p.Val477=)
 gnomAD v4
10g.69382748T>GCA470276598HK1c.1527T>G (p.Val509=)
c.1443T>G (p.Val481=)
c.1265+2653T>G (n.1265+2653T>G)
c.1137T>G (p.Val379=)
c.*1144T>G (n.*1144T>G)
c.*790T>G (n.*790T>G)
c.1407T>G (p.Val469=)
n.2077T>G
n.32T>G
c.1524T>G (p.Val508=)
c.1539T>G (p.Val513=)
c.*1415T>G (n.*1415T>G)
c.1491T>G (p.Val497=)
n.1753T>G
c.1656T>G (p.Val552=)
c.1485T>G (p.Val495=)
c.1482T>G (p.Val494=)
c.1632T>G (p.Val544=)
c.1431T>G (p.Val477=)
10g.69382748T=CA1917772298HK1c.1527T= (p.Val509=)
c.1443T= (p.Val481=)
c.1265+2653T= (n.1265+2653T=)
c.1137T= (p.Val379=)
c.*1144T= (n.*1144T=)
c.*790T= (n.*790T=)
c.1407T= (p.Val469=)
n.2077T=
n.32T=
c.1524T= (p.Val508=)
c.1539T= (p.Val513=)
c.*1415T= (n.*1415T=)
c.1491T= (p.Val497=)
n.1753T=
c.1656T= (p.Val552=)
c.1485T= (p.Val495=)
c.1482T= (p.Val494=)
c.1632T= (p.Val544=)
c.1431T= (p.Val477=)
10g.69382749A>CCA376910228HK1c.1528A>C (p.Lys510Gln)
c.1444A>C (p.Lys482Gln)
c.1265+2654A>C (n.1265+2654A>C)
c.1138A>C (p.Lys380Gln)
c.*1145A>C (n.*1145A>C)
c.*791A>C (n.*791A>C)
c.1408A>C (p.Lys470Gln)
n.2078A>C
n.33A>C
c.1525A>C (p.Lys509Gln)
c.1540A>C (p.Lys514Gln)
c.*1416A>C (n.*1416A>C)
c.1492A>C (p.Lys498Gln)
n.1754A>C
c.1657A>C (p.Lys553Gln)
c.1486A>C (p.Lys496Gln)
c.1483A>C (p.Lys495Gln)
c.1633A>C (p.Lys545Gln)
c.1432A>C (p.Lys478Gln)
10g.69382749A>GCA376910230HK1c.1528A>G (p.Lys510Glu)
c.1444A>G (p.Lys482Glu)
c.1265+2654A>G (n.1265+2654A>G)
c.1138A>G (p.Lys380Glu)
c.*1145A>G (n.*1145A>G)
c.*791A>G (n.*791A>G)
c.1408A>G (p.Lys470Glu)
n.2078A>G
n.33A>G
c.1525A>G (p.Lys509Glu)
c.1540A>G (p.Lys514Glu)
c.*1416A>G (n.*1416A>G)
c.1492A>G (p.Lys498Glu)
n.1754A>G
c.1657A>G (p.Lys553Glu)
c.1486A>G (p.Lys496Glu)
c.1483A>G (p.Lys495Glu)
c.1633A>G (p.Lys545Glu)
c.1432A>G (p.Lys478Glu)
10g.69382749A>TCA376910229HK1c.1528A>T (p.Lys510Ter)
c.1444A>T (p.Lys482Ter)
c.1265+2654A>T (n.1265+2654A>T)
c.1138A>T (p.Lys380Ter)
c.*1145A>T (n.*1145A>T)
c.*791A>T (n.*791A>T)
c.1408A>T (p.Lys470Ter)
n.2078A>T
n.33A>T
c.1525A>T (p.Lys509Ter)
c.1540A>T (p.Lys514Ter)
c.*1416A>T (n.*1416A>T)
c.1492A>T (p.Lys498Ter)
n.1754A>T
c.1657A>T (p.Lys553Ter)
c.1486A>T (p.Lys496Ter)
c.1483A>T (p.Lys495Ter)
c.1633A>T (p.Lys545Ter)
c.1432A>T (p.Lys478Ter)
10g.69382750A>CCA376910231HK1c.1529A>C (p.Lys510Thr)
c.1445A>C (p.Lys482Thr)
c.1265+2655A>C (n.1265+2655A>C)
c.1139A>C (p.Lys380Thr)
c.*1146A>C (n.*1146A>C)
c.*792A>C (n.*792A>C)
c.1409A>C (p.Lys470Thr)
n.2079A>C
n.34A>C
c.1526A>C (p.Lys509Thr)
c.1541A>C (p.Lys514Thr)
c.*1417A>C (n.*1417A>C)
c.1493A>C (p.Lys498Thr)
n.1755A>C
c.1658A>C (p.Lys553Thr)
c.1487A>C (p.Lys496Thr)
c.1484A>C (p.Lys495Thr)
c.1634A>C (p.Lys545Thr)
c.1433A>C (p.Lys478Thr)
10g.69382750A>GCA376910233HK1c.1529A>G (p.Lys510Arg)
c.1445A>G (p.Lys482Arg)
c.1265+2655A>G (n.1265+2655A>G)
c.1139A>G (p.Lys380Arg)
c.*1146A>G (n.*1146A>G)
c.*792A>G (n.*792A>G)
c.1409A>G (p.Lys470Arg)
n.2079A>G
n.34A>G
c.1526A>G (p.Lys509Arg)
c.1541A>G (p.Lys514Arg)
c.*1417A>G (n.*1417A>G)
c.1493A>G (p.Lys498Arg)
n.1755A>G
c.1658A>G (p.Lys553Arg)
c.1487A>G (p.Lys496Arg)
c.1484A>G (p.Lys495Arg)
c.1634A>G (p.Lys545Arg)
c.1433A>G (p.Lys478Arg)
10g.69382750A>TCA376910232HK1c.1529A>T (p.Lys510Met)
c.1445A>T (p.Lys482Met)
c.1265+2655A>T (n.1265+2655A>T)
c.1139A>T (p.Lys380Met)
c.*1146A>T (n.*1146A>T)
c.*792A>T (n.*792A>T)
c.1409A>T (p.Lys470Met)
n.2079A>T
n.34A>T
c.1526A>T (p.Lys509Met)
c.1541A>T (p.Lys514Met)
c.*1417A>T (n.*1417A>T)
c.1493A>T (p.Lys498Met)
n.1755A>T
c.1658A>T (p.Lys553Met)
c.1487A>T (p.Lys496Met)
c.1484A>T (p.Lys495Met)
c.1634A>T (p.Lys545Met)
c.1433A>T (p.Lys478Met)
10g.69382751G>ACA470276600HK1c.1530G>A (p.Lys510=)
c.1446G>A (p.Lys482=)
c.1265+2656G>A (n.1265+2656G>A)
c.1140G>A (p.Lys380=)
c.*1147G>A (n.*1147G>A)
c.*793G>A (n.*793G>A)
c.1410G>A (p.Lys470=)
n.2080G>A
n.35G>A
c.1527G>A (p.Lys509=)
c.1542G>A (p.Lys514=)
c.*1418G>A (n.*1418G>A)
c.1494G>A (p.Lys498=)
n.1756G>A
c.1659G>A (p.Lys553=)
c.1488G>A (p.Lys496=)
c.1485G>A (p.Lys495=)
c.1635G>A (p.Lys545=)
c.1434G>A (p.Lys478=)
10g.69382751G>CCA376910234HK1c.1530G>C (p.Lys510Asn)
c.1446G>C (p.Lys482Asn)
c.1265+2656G>C (n.1265+2656G>C)
c.1140G>C (p.Lys380Asn)
c.*1147G>C (n.*1147G>C)
c.*793G>C (n.*793G>C)
c.1410G>C (p.Lys470Asn)
n.2080G>C
n.35G>C
c.1527G>C (p.Lys509Asn)
c.1542G>C (p.Lys514Asn)
c.*1418G>C (n.*1418G>C)
c.1494G>C (p.Lys498Asn)
n.1756G>C
c.1659G>C (p.Lys553Asn)
c.1488G>C (p.Lys496Asn)
c.1485G>C (p.Lys495Asn)
c.1635G>C (p.Lys545Asn)
c.1434G>C (p.Lys478Asn)
10g.69382751G>TCA376910235HK1c.1530G>T (p.Lys510Asn)
c.1446G>T (p.Lys482Asn)
c.1265+2656G>T (n.1265+2656G>T)
c.1140G>T (p.Lys380Asn)
c.*1147G>T (n.*1147G>T)
c.*793G>T (n.*793G>T)
c.1410G>T (p.Lys470Asn)
n.2080G>T
n.35G>T
c.1527G>T (p.Lys509Asn)
c.1542G>T (p.Lys514Asn)
c.*1418G>T (n.*1418G>T)
c.1494G>T (p.Lys498Asn)
n.1756G>T
c.1659G>T (p.Lys553Asn)
c.1488G>T (p.Lys496Asn)
c.1485G>T (p.Lys495Asn)
c.1635G>T (p.Lys545Asn)
c.1434G>T (p.Lys478Asn)
10g.69382752A=CA1917772299HK1c.1531A= (p.Met511=)
c.1447A= (p.Met483=)
c.1265+2657A= (n.1265+2657A=)
c.1141A= (p.Met381=)
c.*1148A= (n.*1148A=)
c.*794A= (n.*794A=)
c.1411A= (p.Met471=)
n.2081A=
n.36A=
c.1528A= (p.Met510=)
c.1543A= (p.Met515=)
c.*1419A= (n.*1419A=)
c.1495A= (p.Met499=)
n.1757A=
c.1660A= (p.Met554=)
c.1489A= (p.Met497=)
c.1486A= (p.Met496=)
c.1636A= (p.Met546=)
c.1435A= (p.Met479=)
10g.69382752A>CCA376910238HK1c.1531A>C (p.Met511Leu)
c.1447A>C (p.Met483Leu)
c.1265+2657A>C (n.1265+2657A>C)
c.1141A>C (p.Met381Leu)
c.*1148A>C (n.*1148A>C)
c.*794A>C (n.*794A>C)
c.1411A>C (p.Met471Leu)
n.2081A>C
n.36A>C
c.1528A>C (p.Met510Leu)
c.1543A>C (p.Met515Leu)
c.*1419A>C (n.*1419A>C)
c.1495A>C (p.Met499Leu)
n.1757A>C
c.1660A>C (p.Met554Leu)
c.1489A>C (p.Met497Leu)
c.1486A>C (p.Met496Leu)
c.1636A>C (p.Met546Leu)
c.1435A>C (p.Met479Leu)
10g.69382752A>GCA5532618HK1c.1531A>G (p.Met511Val)
c.1447A>G (p.Met483Val)
c.1265+2657A>G (n.1265+2657A>G)
c.1141A>G (p.Met381Val)
c.*1148A>G (n.*1148A>G)
c.*794A>G (n.*794A>G)
c.1411A>G (p.Met471Val)
n.2081A>G
n.36A>G
c.1528A>G (p.Met510Val)
c.1543A>G (p.Met515Val)
c.*1419A>G (n.*1419A>G)
c.1495A>G (p.Met499Val)
n.1757A>G
c.1660A>G (p.Met554Val)
c.1489A>G (p.Met497Val)
c.1486A>G (p.Met496Val)
c.1636A>G (p.Met546Val)
c.1435A>G (p.Met479Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.69382752A>TCA376910241HK1c.1531A>T (p.Met511Leu)
c.1447A>T (p.Met483Leu)
c.1265+2657A>T (n.1265+2657A>T)
c.1141A>T (p.Met381Leu)
c.*1148A>T (n.*1148A>T)
c.*794A>T (n.*794A>T)
c.1411A>T (p.Met471Leu)
n.2081A>T
n.36A>T
c.1528A>T (p.Met510Leu)
c.1543A>T (p.Met515Leu)
c.*1419A>T (n.*1419A>T)
c.1495A>T (p.Met499Leu)
n.1757A>T
c.1660A>T (p.Met554Leu)
c.1489A>T (p.Met497Leu)
c.1486A>T (p.Met496Leu)
c.1636A>T (p.Met546Leu)
c.1435A>T (p.Met479Leu)
10g.69382753T>ACA376910244HK1c.1532T>A (p.Met511Lys)
c.1448T>A (p.Met483Lys)
c.1265+2658T>A (n.1265+2658T>A)
c.1142T>A (p.Met381Lys)
c.*1149T>A (n.*1149T>A)
c.*795T>A (n.*795T>A)
c.1412T>A (p.Met471Lys)
n.2082T>A
n.37T>A
c.1529T>A (p.Met510Lys)
c.1544T>A (p.Met515Lys)
c.*1420T>A (n.*1420T>A)
c.1496T>A (p.Met499Lys)
n.1758T>A
c.1661T>A (p.Met554Lys)
c.1490T>A (p.Met497Lys)
c.1487T>A (p.Met496Lys)
c.1637T>A (p.Met546Lys)
c.1436T>A (p.Met479Lys)
10g.69382753T>CCA5532619HK1c.1532T>C (p.Met511Thr)
c.1448T>C (p.Met483Thr)
c.1265+2658T>C (n.1265+2658T>C)
c.1142T>C (p.Met381Thr)
c.*1149T>C (n.*1149T>C)
c.*795T>C (n.*795T>C)
c.1412T>C (p.Met471Thr)
n.2082T>C
n.37T>C
c.1529T>C (p.Met510Thr)
c.1544T>C (p.Met515Thr)
c.*1420T>C (n.*1420T>C)
c.1496T>C (p.Met499Thr)
n.1758T>C
c.1661T>C (p.Met554Thr)
c.1490T>C (p.Met497Thr)
c.1487T>C (p.Met496Thr)
c.1637T>C (p.Met546Thr)
c.1436T>C (p.Met479Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.69382753T>GCA376910247HK1c.1532T>G (p.Met511Arg)
c.1448T>G (p.Met483Arg)
c.1265+2658T>G (n.1265+2658T>G)
c.1142T>G (p.Met381Arg)
c.*1149T>G (n.*1149T>G)
c.*795T>G (n.*795T>G)
c.1412T>G (p.Met471Arg)
n.2082T>G
n.37T>G
c.1529T>G (p.Met510Arg)
c.1544T>G (p.Met515Arg)
c.*1420T>G (n.*1420T>G)
c.1496T>G (p.Met499Arg)
n.1758T>G
c.1661T>G (p.Met554Arg)
c.1490T>G (p.Met497Arg)
c.1487T>G (p.Met496Arg)
c.1637T>G (p.Met546Arg)
c.1436T>G (p.Met479Arg)
10g.69382753T=CA1917772302HK1c.1532T= (p.Met511=)
c.1448T= (p.Met483=)
c.1265+2658T= (n.1265+2658T=)
c.1142T= (p.Met381=)
c.*1149T= (n.*1149T=)
c.*795T= (n.*795T=)
c.1412T= (p.Met471=)
n.2082T=
n.37T=
c.1529T= (p.Met510=)
c.1544T= (p.Met515=)
c.*1420T= (n.*1420T=)
c.1496T= (p.Met499=)
n.1758T=
c.1661T= (p.Met554=)
c.1490T= (p.Met497=)
c.1487T= (p.Met496=)
c.1637T= (p.Met546=)
c.1436T= (p.Met479=)
10g.69382754G>ACA376910249HK1c.1533G>A (p.Met511Ile)
c.1449G>A (p.Met483Ile)
c.1265+2659G>A (n.1265+2659G>A)
c.1143G>A (p.Met381Ile)
c.*1150G>A (n.*1150G>A)
c.*796G>A (n.*796G>A)
c.1413G>A (p.Met471Ile)
n.2083G>A
n.38G>A
c.1530G>A (p.Met510Ile)
c.1545G>A (p.Met515Ile)
c.*1421G>A (n.*1421G>A)
c.1497G>A (p.Met499Ile)
n.1759G>A
c.1662G>A (p.Met554Ile)
c.1491G>A (p.Met497Ile)
c.1488G>A (p.Met496Ile)
c.1638G>A (p.Met546Ile)
c.1437G>A (p.Met479Ile)
 ClinVar dbSNP
10g.69382754G>CCA376910251HK1c.1533G>C (p.Met511Ile)
c.1449G>C (p.Met483Ile)
c.1265+2659G>C (n.1265+2659G>C)
c.1143G>C (p.Met381Ile)
c.*1150G>C (n.*1150G>C)
c.*796G>C (n.*796G>C)
c.1413G>C (p.Met471Ile)
n.2083G>C
n.38G>C
c.1530G>C (p.Met510Ile)
c.1545G>C (p.Met515Ile)
c.*1421G>C (n.*1421G>C)
c.1497G>C (p.Met499Ile)
n.1759G>C
c.1662G>C (p.Met554Ile)
c.1491G>C (p.Met497Ile)
c.1488G>C (p.Met496Ile)
c.1638G>C (p.Met546Ile)
c.1437G>C (p.Met479Ile)
10g.69382754G>TCA376910253HK1c.1533G>T (p.Met511Ile)
c.1449G>T (p.Met483Ile)
c.1265+2659G>T (n.1265+2659G>T)
c.1143G>T (p.Met381Ile)
c.*1150G>T (n.*1150G>T)
c.*796G>T (n.*796G>T)
c.1413G>T (p.Met471Ile)
n.2083G>T
n.38G>T
c.1530G>T (p.Met510Ile)
c.1545G>T (p.Met515Ile)
c.*1421G>T (n.*1421G>T)
c.1497G>T (p.Met499Ile)
n.1759G>T
c.1662G>T (p.Met554Ile)
c.1491G>T (p.Met497Ile)
c.1488G>T (p.Met496Ile)
c.1638G>T (p.Met546Ile)
c.1437G>T (p.Met479Ile)
 COSMIC COSMIC COSMIC COSMIC
10g.69382755C>ACA376910256HK1c.1534C>A (p.Leu512Met)
c.1450C>A (p.Leu484Met)
c.1265+2660C>A (n.1265+2660C>A)
c.1144C>A (p.Leu382Met)
c.*1151C>A (n.*1151C>A)
c.*797C>A (n.*797C>A)
c.1414C>A (p.Leu472Met)
n.2084C>A
n.39C>A
c.1531C>A (p.Leu511Met)
c.1546C>A (p.Leu516Met)
c.*1422C>A (n.*1422C>A)
c.1498C>A (p.Leu500Met)
n.1760C>A
c.1663C>A (p.Leu555Met)
c.1492C>A (p.Leu498Met)
c.1489C>A (p.Leu497Met)
c.1639C>A (p.Leu547Met)
c.1438C>A (p.Leu480Met)
10g.69382755C>GCA376910261HK1c.1534C>G (p.Leu512Val)
c.1450C>G (p.Leu484Val)
c.1265+2660C>G (n.1265+2660C>G)
c.1144C>G (p.Leu382Val)
c.*1151C>G (n.*1151C>G)
c.*797C>G (n.*797C>G)
c.1414C>G (p.Leu472Val)
n.2084C>G
n.39C>G
c.1531C>G (p.Leu511Val)
c.1546C>G (p.Leu516Val)
c.*1422C>G (n.*1422C>G)
c.1498C>G (p.Leu500Val)
n.1760C>G
c.1663C>G (p.Leu555Val)
c.1492C>G (p.Leu498Val)
c.1489C>G (p.Leu497Val)
c.1639C>G (p.Leu547Val)
c.1438C>G (p.Leu480Val)
10g.69382755C>TCA470276604HK1c.1534C>T (p.Leu512=)
c.1450C>T (p.Leu484=)
c.1265+2660C>T (n.1265+2660C>T)
c.1144C>T (p.Leu382=)
c.*1151C>T (n.*1151C>T)
c.*797C>T (n.*797C>T)
c.1414C>T (p.Leu472=)
n.2084C>T
n.39C>T
c.1531C>T (p.Leu511=)
c.1546C>T (p.Leu516=)
c.*1422C>T (n.*1422C>T)
c.1498C>T (p.Leu500=)
n.1760C>T
c.1663C>T (p.Leu555=)
c.1492C>T (p.Leu498=)
c.1489C>T (p.Leu497=)
c.1639C>T (p.Leu547=)
c.1438C>T (p.Leu480=)
10g.69382756T>ACA376910263HK1c.1535T>A (p.Leu512Gln)
c.1451T>A (p.Leu484Gln)
c.1265+2661T>A (n.1265+2661T>A)
c.1145T>A (p.Leu382Gln)
c.*1152T>A (n.*1152T>A)
c.*798T>A (n.*798T>A)
c.1415T>A (p.Leu472Gln)
n.2085T>A
n.40T>A
c.1532T>A (p.Leu511Gln)
c.1547T>A (p.Leu516Gln)
c.*1423T>A (n.*1423T>A)
c.1499T>A (p.Leu500Gln)
n.1761T>A
c.1664T>A (p.Leu555Gln)
c.1493T>A (p.Leu498Gln)
c.1490T>A (p.Leu497Gln)
c.1640T>A (p.Leu547Gln)
c.1439T>A (p.Leu480Gln)
10g.69382756T>CCA376910267HK1c.1535T>C (p.Leu512Pro)
c.1451T>C (p.Leu484Pro)
c.1265+2661T>C (n.1265+2661T>C)
c.1145T>C (p.Leu382Pro)
c.*1152T>C (n.*1152T>C)
c.*798T>C (n.*798T>C)
c.1415T>C (p.Leu472Pro)
n.2085T>C
n.40T>C
c.1532T>C (p.Leu511Pro)
c.1547T>C (p.Leu516Pro)
c.*1423T>C (n.*1423T>C)
c.1499T>C (p.Leu500Pro)
n.1761T>C
c.1664T>C (p.Leu555Pro)
c.1493T>C (p.Leu498Pro)
c.1490T>C (p.Leu497Pro)
c.1640T>C (p.Leu547Pro)
c.1439T>C (p.Leu480Pro)
10g.69382756T>GCA376910265HK1c.1535T>G (p.Leu512Arg)
c.1451T>G (p.Leu484Arg)
c.1265+2661T>G (n.1265+2661T>G)
c.1145T>G (p.Leu382Arg)
c.*1152T>G (n.*1152T>G)
c.*798T>G (n.*798T>G)
c.1415T>G (p.Leu472Arg)
n.2085T>G
n.40T>G
c.1532T>G (p.Leu511Arg)
c.1547T>G (p.Leu516Arg)
c.*1423T>G (n.*1423T>G)
c.1499T>G (p.Leu500Arg)
n.1761T>G
c.1664T>G (p.Leu555Arg)
c.1493T>G (p.Leu498Arg)
c.1490T>G (p.Leu497Arg)
c.1640T>G (p.Leu547Arg)
c.1439T>G (p.Leu480Arg)
 dbSNP gnomAD v3 gnomAD v4
10g.69382756T=CA1917772305HK1c.1535T= (p.Leu512=)
c.1451T= (p.Leu484=)
c.1265+2661T= (n.1265+2661T=)
c.1145T= (p.Leu382=)
c.*1152T= (n.*1152T=)
c.*798T= (n.*798T=)
c.1415T= (p.Leu472=)
n.2085T=
n.40T=
c.1532T= (p.Leu511=)
c.1547T= (p.Leu516=)
c.*1423T= (n.*1423T=)
c.1499T= (p.Leu500=)
n.1761T=
c.1664T= (p.Leu555=)
c.1493T= (p.Leu498=)
c.1490T= (p.Leu497=)
c.1640T= (p.Leu547=)
c.1439T= (p.Leu480=)
10g.69382757G>ACA470276606HK1c.1536G>A (p.Leu512=)
c.1452G>A (p.Leu484=)
c.1265+2662G>A (n.1265+2662G>A)
c.1146G>A (p.Leu382=)
c.*1153G>A (n.*1153G>A)
c.*799G>A (n.*799G>A)
c.1416G>A (p.Leu472=)
n.2086G>A
n.41G>A
c.1533G>A (p.Leu511=)
c.1548G>A (p.Leu516=)
c.*1424G>A (n.*1424G>A)
c.1500G>A (p.Leu500=)
n.1762G>A
c.1665G>A (p.Leu555=)
c.1494G>A (p.Leu498=)
c.1491G>A (p.Leu497=)
c.1641G>A (p.Leu547=)
c.1440G>A (p.Leu480=)
10g.69382757G>CCA470276607HK1c.1536G>C (p.Leu512=)
c.1452G>C (p.Leu484=)
c.1265+2662G>C (n.1265+2662G>C)
c.1146G>C (p.Leu382=)
c.*1153G>C (n.*1153G>C)
c.*799G>C (n.*799G>C)
c.1416G>C (p.Leu472=)
n.2086G>C
n.41G>C
c.1533G>C (p.Leu511=)
c.1548G>C (p.Leu516=)
c.*1424G>C (n.*1424G>C)
c.1500G>C (p.Leu500=)
n.1762G>C
c.1665G>C (p.Leu555=)
c.1494G>C (p.Leu498=)
c.1491G>C (p.Leu497=)
c.1641G>C (p.Leu547=)
c.1440G>C (p.Leu480=)
10g.69382757G>TCA470276609HK1c.1536G>T (p.Leu512=)
c.1452G>T (p.Leu484=)
c.1265+2662G>T (n.1265+2662G>T)
c.1146G>T (p.Leu382=)
c.*1153G>T (n.*1153G>T)
c.*799G>T (n.*799G>T)
c.1416G>T (p.Leu472=)
n.2086G>T
n.41G>T
c.1533G>T (p.Leu511=)
c.1548G>T (p.Leu516=)
c.*1424G>T (n.*1424G>T)
c.1500G>T (p.Leu500=)
n.1762G>T
c.1665G>T (p.Leu555=)
c.1494G>T (p.Leu498=)
c.1491G>T (p.Leu497=)
c.1641G>T (p.Leu547=)
c.1440G>T (p.Leu480=)
10g.69382758C>ACA376910269HK1c.1537C>A (p.Pro513Thr)
c.1453C>A (p.Pro485Thr)
c.1265+2663C>A (n.1265+2663C>A)
c.1147C>A (p.Pro383Thr)
c.*1154C>A (n.*1154C>A)
c.*800C>A (n.*800C>A)
c.1417C>A (p.Pro473Thr)
n.2087C>A
n.42C>A
c.1534C>A (p.Pro512Thr)
c.1549C>A (p.Pro517Thr)
c.*1425C>A (n.*1425C>A)
c.1501C>A (p.Pro501Thr)
n.1763C>A
c.1666C>A (p.Pro556Thr)
c.1495C>A (p.Pro499Thr)
c.1492C>A (p.Pro498Thr)
c.1642C>A (p.Pro548Thr)
c.1441C>A (p.Pro481Thr)
10g.69382758C>GCA376910270HK1c.1537C>G (p.Pro513Ala)
c.1453C>G (p.Pro485Ala)
c.1265+2663C>G (n.1265+2663C>G)
c.1147C>G (p.Pro383Ala)
c.*1154C>G (n.*1154C>G)
c.*800C>G (n.*800C>G)
c.1417C>G (p.Pro473Ala)
n.2087C>G
n.42C>G
c.1534C>G (p.Pro512Ala)
c.1549C>G (p.Pro517Ala)
c.*1425C>G (n.*1425C>G)
c.1501C>G (p.Pro501Ala)
n.1763C>G
c.1666C>G (p.Pro556Ala)
c.1495C>G (p.Pro499Ala)
c.1492C>G (p.Pro498Ala)
c.1642C>G (p.Pro548Ala)
c.1441C>G (p.Pro481Ala)
10g.69382758C>TCA376910272HK1c.1537C>T (p.Pro513Ser)
c.1453C>T (p.Pro485Ser)
c.1265+2663C>T (n.1265+2663C>T)
c.1147C>T (p.Pro383Ser)
c.*1154C>T (n.*1154C>T)
c.*800C>T (n.*800C>T)
c.1417C>T (p.Pro473Ser)
n.2087C>T
n.42C>T
c.1534C>T (p.Pro512Ser)
c.1549C>T (p.Pro517Ser)
c.*1425C>T (n.*1425C>T)
c.1501C>T (p.Pro501Ser)
n.1763C>T
c.1666C>T (p.Pro556Ser)
c.1495C>T (p.Pro499Ser)
c.1492C>T (p.Pro498Ser)
c.1642C>T (p.Pro548Ser)
c.1441C>T (p.Pro481Ser)
 ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC
10g.69382759C>ACA376910274HK1c.1538C>A (p.Pro513His)
c.1454C>A (p.Pro485His)
c.1265+2664C>A (n.1265+2664C>A)
c.1148C>A (p.Pro383His)
c.*1155C>A (n.*1155C>A)
c.*801C>A (n.*801C>A)
c.1418C>A (p.Pro473His)
n.2088C>A
n.43C>A
c.1535C>A (p.Pro512His)
c.1550C>A (p.Pro517His)
c.*1426C>A (n.*1426C>A)
c.1502C>A (p.Pro501His)
n.1764C>A
c.1667C>A (p.Pro556His)
c.1496C>A (p.Pro499His)
c.1493C>A (p.Pro498His)
c.1643C>A (p.Pro548His)
c.1442C>A (p.Pro481His)
10g.69382759C=CA1917772306HK1c.1538C= (p.Pro513=)
c.1454C= (p.Pro485=)
c.1265+2664C= (n.1265+2664C=)
c.1148C= (p.Pro383=)
c.*1155C= (n.*1155C=)
c.*801C= (n.*801C=)
c.1418C= (p.Pro473=)
n.2088C=
n.43C=
c.1535C= (p.Pro512=)
c.1550C= (p.Pro517=)
c.*1426C= (n.*1426C=)
c.1502C= (p.Pro501=)
n.1764C=
c.1667C= (p.Pro556=)
c.1496C= (p.Pro499=)
c.1493C= (p.Pro498=)
c.1643C= (p.Pro548=)
c.1442C= (p.Pro481=)
10g.69382759C>GCA376910275HK1c.1538C>G (p.Pro513Arg)
c.1454C>G (p.Pro485Arg)
c.1265+2664C>G (n.1265+2664C>G)
c.1148C>G (p.Pro383Arg)
c.*1155C>G (n.*1155C>G)
c.*801C>G (n.*801C>G)
c.1418C>G (p.Pro473Arg)
n.2088C>G
n.43C>G
c.1535C>G (p.Pro512Arg)
c.1550C>G (p.Pro517Arg)
c.*1426C>G (n.*1426C>G)
c.1502C>G (p.Pro501Arg)
n.1764C>G
c.1667C>G (p.Pro556Arg)
c.1496C>G (p.Pro499Arg)
c.1493C>G (p.Pro498Arg)
c.1643C>G (p.Pro548Arg)
c.1442C>G (p.Pro481Arg)
10g.69382759C>TCA209213215HK1c.1538C>T (p.Pro513Leu)
c.1454C>T (p.Pro485Leu)
c.1265+2664C>T (n.1265+2664C>T)
c.1148C>T (p.Pro383Leu)
c.*1155C>T (n.*1155C>T)
c.*801C>T (n.*801C>T)
c.1418C>T (p.Pro473Leu)
n.2088C>T
n.43C>T
c.1535C>T (p.Pro512Leu)
c.1550C>T (p.Pro517Leu)
c.*1426C>T (n.*1426C>T)
c.1502C>T (p.Pro501Leu)
n.1764C>T
c.1667C>T (p.Pro556Leu)
c.1496C>T (p.Pro499Leu)
c.1493C>T (p.Pro498Leu)
c.1643C>T (p.Pro548Leu)
c.1442C>T (p.Pro481Leu)
 dbSNP gnomAD v3 gnomAD v4
10g.69382760C>ACA470276612HK1c.1539C>A (p.Pro513=)
c.1455C>A (p.Pro485=)
c.1265+2665C>A (n.1265+2665C>A)
c.1149C>A (p.Pro383=)
c.*1156C>A (n.*1156C>A)
c.*802C>A (n.*802C>A)
c.1419C>A (p.Pro473=)
n.2089C>A
n.44C>A
c.1536C>A (p.Pro512=)
c.1551C>A (p.Pro517=)
c.*1427C>A (n.*1427C>A)
c.1503C>A (p.Pro501=)
n.1765C>A
c.1668C>A (p.Pro556=)
c.1497C>A (p.Pro499=)
c.1494C>A (p.Pro498=)
c.1644C>A (p.Pro548=)
c.1443C>A (p.Pro481=)
10g.69382760C>GCA470276613HK1c.1539C>G (p.Pro513=)
c.1455C>G (p.Pro485=)
c.1265+2665C>G (n.1265+2665C>G)
c.1149C>G (p.Pro383=)
c.*1156C>G (n.*1156C>G)
c.*802C>G (n.*802C>G)
c.1419C>G (p.Pro473=)
n.2089C>G
n.44C>G
c.1536C>G (p.Pro512=)
c.1551C>G (p.Pro517=)
c.*1427C>G (n.*1427C>G)
c.1503C>G (p.Pro501=)
n.1765C>G
c.1668C>G (p.Pro556=)
c.1497C>G (p.Pro499=)
c.1494C>G (p.Pro498=)
c.1644C>G (p.Pro548=)
c.1443C>G (p.Pro481=)
10g.69382760C>TCA470276614HK1c.1539C>T (p.Pro513=)
c.1455C>T (p.Pro485=)
c.1265+2665C>T (n.1265+2665C>T)
c.1149C>T (p.Pro383=)
c.*1156C>T (n.*1156C>T)
c.*802C>T (n.*802C>T)
c.1419C>T (p.Pro473=)
n.2089C>T
n.44C>T
c.1536C>T (p.Pro512=)
c.1551C>T (p.Pro517=)
c.*1427C>T (n.*1427C>T)
c.1503C>T (p.Pro501=)
n.1765C>T
c.1668C>T (p.Pro556=)
c.1497C>T (p.Pro499=)
c.1494C>T (p.Pro498=)
c.1644C>T (p.Pro548=)
c.1443C>T (p.Pro481=)
10g.69382761T>ACA376910278HK1c.1540T>A (p.Ser514Thr)
c.1456T>A (p.Ser486Thr)
c.1265+2666T>A (n.1265+2666T>A)
c.1150T>A (p.Ser384Thr)
c.*1157T>A (n.*1157T>A)
c.*803T>A (n.*803T>A)
c.1420T>A (p.Ser474Thr)
n.2090T>A
n.45T>A
c.1537T>A (p.Ser513Thr)
c.1552T>A (p.Ser518Thr)
c.*1428T>A (n.*1428T>A)
c.1504T>A (p.Ser502Thr)
n.1766T>A
c.1669T>A (p.Ser557Thr)
c.1498T>A (p.Ser500Thr)
c.1495T>A (p.Ser499Thr)
c.1645T>A (p.Ser549Thr)
c.1444T>A (p.Ser482Thr)
10g.69382761T>CCA376910279HK1c.1540T>C (p.Ser514Pro)
c.1456T>C (p.Ser486Pro)
c.1265+2666T>C (n.1265+2666T>C)
c.1150T>C (p.Ser384Pro)
c.*1157T>C (n.*1157T>C)
c.*803T>C (n.*803T>C)
c.1420T>C (p.Ser474Pro)
n.2090T>C
n.45T>C
c.1537T>C (p.Ser513Pro)
c.1552T>C (p.Ser518Pro)
c.*1428T>C (n.*1428T>C)
c.1504T>C (p.Ser502Pro)
n.1766T>C
c.1669T>C (p.Ser557Pro)
c.1498T>C (p.Ser500Pro)
c.1495T>C (p.Ser499Pro)
c.1645T>C (p.Ser549Pro)
c.1444T>C (p.Ser482Pro)
10g.69382761T>GCA376910280HK1c.1540T>G (p.Ser514Ala)
c.1456T>G (p.Ser486Ala)
c.1265+2666T>G (n.1265+2666T>G)
c.1150T>G (p.Ser384Ala)
c.*1157T>G (n.*1157T>G)
c.*803T>G (n.*803T>G)
c.1420T>G (p.Ser474Ala)
n.2090T>G
n.45T>G
c.1537T>G (p.Ser513Ala)
c.1552T>G (p.Ser518Ala)
c.*1428T>G (n.*1428T>G)
c.1504T>G (p.Ser502Ala)
n.1766T>G
c.1669T>G (p.Ser557Ala)
c.1498T>G (p.Ser500Ala)
c.1495T>G (p.Ser499Ala)
c.1645T>G (p.Ser549Ala)
c.1444T>G (p.Ser482Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.69382761T=CA1917772307HK1c.1540T= (p.Ser514=)
c.1456T= (p.Ser486=)
c.1265+2666T= (n.1265+2666T=)
c.1150T= (p.Ser384=)
c.*1157T= (n.*1157T=)
c.*803T= (n.*803T=)
c.1420T= (p.Ser474=)
n.2090T=
n.45T=
c.1537T= (p.Ser513=)
c.1552T= (p.Ser518=)
c.*1428T= (n.*1428T=)
c.1504T= (p.Ser502=)
n.1766T=
c.1669T= (p.Ser557=)
c.1498T= (p.Ser500=)
c.1495T= (p.Ser499=)
c.1645T= (p.Ser549=)
c.1444T= (p.Ser482=)
10g.69382762C>ACA376910284HK1c.1541C>A (p.Ser514Tyr)
c.1457C>A (p.Ser486Tyr)
c.1265+2667C>A (n.1265+2667C>A)
c.1151C>A (p.Ser384Tyr)
c.*1158C>A (n.*1158C>A)
c.*804C>A (n.*804C>A)
c.1421C>A (p.Ser474Tyr)
n.2091C>A
n.46C>A
c.1538C>A (p.Ser513Tyr)
c.1553C>A (p.Ser518Tyr)
c.*1429C>A (n.*1429C>A)
c.1505C>A (p.Ser502Tyr)
n.1767C>A
c.1670C>A (p.Ser557Tyr)
c.1499C>A (p.Ser500Tyr)
c.1496C>A (p.Ser499Tyr)
c.1646C>A (p.Ser549Tyr)
c.1445C>A (p.Ser482Tyr)
10g.69382762C>GCA376910282HK1c.1541C>G (p.Ser514Cys)
c.1457C>G (p.Ser486Cys)
c.1265+2667C>G (n.1265+2667C>G)
c.1151C>G (p.Ser384Cys)
c.*1158C>G (n.*1158C>G)
c.*804C>G (n.*804C>G)
c.1421C>G (p.Ser474Cys)
n.2091C>G
n.46C>G
c.1538C>G (p.Ser513Cys)
c.1553C>G (p.Ser518Cys)
c.*1429C>G (n.*1429C>G)
c.1505C>G (p.Ser502Cys)
n.1767C>G
c.1670C>G (p.Ser557Cys)
c.1499C>G (p.Ser500Cys)
c.1496C>G (p.Ser499Cys)
c.1646C>G (p.Ser549Cys)
c.1445C>G (p.Ser482Cys)
10g.69382762C>TCA376910281HK1c.1541C>T (p.Ser514Phe)
c.1457C>T (p.Ser486Phe)
c.1265+2667C>T (n.1265+2667C>T)
c.1151C>T (p.Ser384Phe)
c.*1158C>T (n.*1158C>T)
c.*804C>T (n.*804C>T)
c.1421C>T (p.Ser474Phe)
n.2091C>T
n.46C>T
c.1538C>T (p.Ser513Phe)
c.1553C>T (p.Ser518Phe)
c.*1429C>T (n.*1429C>T)
c.1505C>T (p.Ser502Phe)
n.1767C>T
c.1670C>T (p.Ser557Phe)
c.1499C>T (p.Ser500Phe)
c.1496C>T (p.Ser499Phe)
c.1646C>T (p.Ser549Phe)
c.1445C>T (p.Ser482Phe)
 COSMIC COSMIC COSMIC COSMIC
10g.69382763C>ACA470276620HK1c.1542C>A (p.Ser514=)
c.1458C>A (p.Ser486=)
c.1265+2668C>A (n.1265+2668C>A)
c.1152C>A (p.Ser384=)
c.*1159C>A (n.*1159C>A)
c.*805C>A (n.*805C>A)
c.1422C>A (p.Ser474=)
n.2092C>A
n.47C>A
c.1539C>A (p.Ser513=)
c.1554C>A (p.Ser518=)
c.*1430C>A (n.*1430C>A)
c.1506C>A (p.Ser502=)
n.1768C>A
c.1671C>A (p.Ser557=)
c.1500C>A (p.Ser500=)
c.1497C>A (p.Ser499=)
c.1647C>A (p.Ser549=)
c.1446C>A (p.Ser482=)
10g.69382763C=CA1917772308HK1c.1542C= (p.Ser514=)
c.1458C= (p.Ser486=)
c.1265+2668C= (n.1265+2668C=)
c.1152C= (p.Ser384=)
c.*1159C= (n.*1159C=)
c.*805C= (n.*805C=)
c.1422C= (p.Ser474=)
n.2092C=
n.47C=
c.1539C= (p.Ser513=)
c.1554C= (p.Ser518=)
c.*1430C= (n.*1430C=)
c.1506C= (p.Ser502=)
n.1768C=
c.1671C= (p.Ser557=)
c.1500C= (p.Ser500=)
c.1497C= (p.Ser499=)
c.1647C= (p.Ser549=)
c.1446C= (p.Ser482=)
10g.69382763C>GCA470276623HK1c.1542C>G (p.Ser514=)
c.1458C>G (p.Ser486=)
c.1265+2668C>G (n.1265+2668C>G)
c.1152C>G (p.Ser384=)
c.*1159C>G (n.*1159C>G)
c.*805C>G (n.*805C>G)
c.1422C>G (p.Ser474=)
n.2092C>G
n.47C>G
c.1539C>G (p.Ser513=)
c.1554C>G (p.Ser518=)
c.*1430C>G (n.*1430C>G)
c.1506C>G (p.Ser502=)
n.1768C>G
c.1671C>G (p.Ser557=)
c.1500C>G (p.Ser500=)
c.1497C>G (p.Ser499=)
c.1647C>G (p.Ser549=)
c.1446C>G (p.Ser482=)
10g.69382763C>TCA470276622HK1c.1542C>T (p.Ser514=)
c.1458C>T (p.Ser486=)
c.1265+2668C>T (n.1265+2668C>T)
c.1152C>T (p.Ser384=)
c.*1159C>T (n.*1159C>T)
c.*805C>T (n.*805C>T)
c.1422C>T (p.Ser474=)
n.2092C>T
n.47C>T
c.1539C>T (p.Ser513=)
c.1554C>T (p.Ser518=)
c.*1430C>T (n.*1430C>T)
c.1506C>T (p.Ser502=)
n.1768C>T
c.1671C>T (p.Ser557=)
c.1500C>T (p.Ser500=)
c.1497C>T (p.Ser499=)
c.1647C>T (p.Ser549=)
c.1446C>T (p.Ser482=)
 dbSNP gnomAD v4
10g.69382764T>ACA376910287HK1c.1543T>A (p.Phe515Ile)
c.1459T>A (p.Phe487Ile)
c.1265+2669T>A (n.1265+2669T>A)
c.1153T>A (p.Phe385Ile)
c.*1160T>A (n.*1160T>A)
c.*806T>A (n.*806T>A)
c.1423T>A (p.Phe475Ile)
n.2093T>A
n.48T>A
c.1540T>A (p.Phe514Ile)
c.1555T>A (p.Phe519Ile)
c.*1431T>A (n.*1431T>A)
c.1507T>A (p.Phe503Ile)
n.1769T>A
c.1672T>A (p.Phe558Ile)
c.1501T>A (p.Phe501Ile)
c.1498T>A (p.Phe500Ile)
c.1648T>A (p.Phe550Ile)
c.1447T>A (p.Phe483Ile)
10g.69382764T>CCA376910288HK1c.1543T>C (p.Phe515Leu)
c.1459T>C (p.Phe487Leu)
c.1265+2669T>C (n.1265+2669T>C)
c.1153T>C (p.Phe385Leu)
c.*1160T>C (n.*1160T>C)
c.*806T>C (n.*806T>C)
c.1423T>C (p.Phe475Leu)
n.2093T>C
n.48T>C
c.1540T>C (p.Phe514Leu)
c.1555T>C (p.Phe519Leu)
c.*1431T>C (n.*1431T>C)
c.1507T>C (p.Phe503Leu)
n.1769T>C
c.1672T>C (p.Phe558Leu)
c.1501T>C (p.Phe501Leu)
c.1498T>C (p.Phe500Leu)
c.1648T>C (p.Phe550Leu)
c.1447T>C (p.Phe483Leu)
10g.69382764T>GCA376910290HK1c.1543T>G (p.Phe515Val)
c.1459T>G (p.Phe487Val)
c.1265+2669T>G (n.1265+2669T>G)
c.1153T>G (p.Phe385Val)
c.*1160T>G (n.*1160T>G)
c.*806T>G (n.*806T>G)
c.1423T>G (p.Phe475Val)
n.2093T>G
n.48T>G
c.1540T>G (p.Phe514Val)
c.1555T>G (p.Phe519Val)
c.*1431T>G (n.*1431T>G)
c.1507T>G (p.Phe503Val)
n.1769T>G
c.1672T>G (p.Phe558Val)
c.1501T>G (p.Phe501Val)
c.1498T>G (p.Phe500Val)
c.1648T>G (p.Phe550Val)
c.1447T>G (p.Phe483Val)
10g.69382765T>ACA376910292HK1c.1544T>A (p.Phe515Tyr)
c.1460T>A (p.Phe487Tyr)
c.1265+2670T>A (n.1265+2670T>A)
c.1154T>A (p.Phe385Tyr)
c.*1161T>A (n.*1161T>A)
c.*807T>A (n.*807T>A)
c.1424T>A (p.Phe475Tyr)
n.2094T>A
n.49T>A
c.1541T>A (p.Phe514Tyr)
c.1556T>A (p.Phe519Tyr)
c.*1432T>A (n.*1432T>A)
c.1508T>A (p.Phe503Tyr)
n.1770T>A
c.1673T>A (p.Phe558Tyr)
c.1502T>A (p.Phe501Tyr)
c.1499T>A (p.Phe500Tyr)
c.1649T>A (p.Phe550Tyr)
c.1448T>A (p.Phe483Tyr)
10g.69382765T>CCA376910294HK1c.1544T>C (p.Phe515Ser)
c.1460T>C (p.Phe487Ser)
c.1265+2670T>C (n.1265+2670T>C)
c.1154T>C (p.Phe385Ser)
c.*1161T>C (n.*1161T>C)
c.*807T>C (n.*807T>C)
c.1424T>C (p.Phe475Ser)
n.2094T>C
n.49T>C
c.1541T>C (p.Phe514Ser)
c.1556T>C (p.Phe519Ser)
c.*1432T>C (n.*1432T>C)
c.1508T>C (p.Phe503Ser)
n.1770T>C
c.1673T>C (p.Phe558Ser)
c.1502T>C (p.Phe501Ser)
c.1499T>C (p.Phe500Ser)
c.1649T>C (p.Phe550Ser)
c.1448T>C (p.Phe483Ser)
10g.69382765T>GCA376910296HK1c.1544T>G (p.Phe515Cys)
c.1460T>G (p.Phe487Cys)
c.1265+2670T>G (n.1265+2670T>G)
c.1154T>G (p.Phe385Cys)
c.*1161T>G (n.*1161T>G)
c.*807T>G (n.*807T>G)
c.1424T>G (p.Phe475Cys)
n.2094T>G
n.49T>G
c.1541T>G (p.Phe514Cys)
c.1556T>G (p.Phe519Cys)
c.*1432T>G (n.*1432T>G)
c.1508T>G (p.Phe503Cys)
n.1770T>G
c.1673T>G (p.Phe558Cys)
c.1502T>G (p.Phe501Cys)
c.1499T>G (p.Phe500Cys)
c.1649T>G (p.Phe550Cys)
c.1448T>G (p.Phe483Cys)
10g.69382766C>ACA376910298HK1c.1545C>A (p.Phe515Leu)
c.1461C>A (p.Phe487Leu)
c.1265+2671C>A (n.1265+2671C>A)
c.1155C>A (p.Phe385Leu)
c.*1162C>A (n.*1162C>A)
c.*808C>A (n.*808C>A)
c.1425C>A (p.Phe475Leu)
n.2095C>A
n.50C>A
c.1542C>A (p.Phe514Leu)
c.1557C>A (p.Phe519Leu)
c.*1433C>A (n.*1433C>A)
c.1509C>A (p.Phe503Leu)
n.1771C>A
c.1674C>A (p.Phe558Leu)
c.1503C>A (p.Phe501Leu)
c.1500C>A (p.Phe500Leu)
c.1650C>A (p.Phe550Leu)
c.1449C>A (p.Phe483Leu)
10g.69382766C=CA1917772309HK1c.1545C= (p.Phe515=)
c.1461C= (p.Phe487=)
c.1265+2671C= (n.1265+2671C=)
c.1155C= (p.Phe385=)
c.*1162C= (n.*1162C=)
c.*808C= (n.*808C=)
c.1425C= (p.Phe475=)
n.2095C=
n.50C=
c.1542C= (p.Phe514=)
c.1557C= (p.Phe519=)
c.*1433C= (n.*1433C=)
c.1509C= (p.Phe503=)
n.1771C=
c.1674C= (p.Phe558=)
c.1503C= (p.Phe501=)
c.1500C= (p.Phe500=)
c.1650C= (p.Phe550=)
c.1449C= (p.Phe483=)
10g.69382766C>GCA376910300HK1c.1545C>G (p.Phe515Leu)
c.1461C>G (p.Phe487Leu)
c.1265+2671C>G (n.1265+2671C>G)
c.1155C>G (p.Phe385Leu)
c.*1162C>G (n.*1162C>G)
c.*808C>G (n.*808C>G)
c.1425C>G (p.Phe475Leu)
n.2095C>G
n.50C>G
c.1542C>G (p.Phe514Leu)
c.1557C>G (p.Phe519Leu)
c.*1433C>G (n.*1433C>G)
c.1509C>G (p.Phe503Leu)
n.1771C>G
c.1674C>G (p.Phe558Leu)
c.1503C>G (p.Phe501Leu)
c.1500C>G (p.Phe500Leu)
c.1650C>G (p.Phe550Leu)
c.1449C>G (p.Phe483Leu)
10g.69382766C>TCA5532620HK1c.1545C>T (p.Phe515=)
c.1461C>T (p.Phe487=)
c.1265+2671C>T (n.1265+2671C>T)
c.1155C>T (p.Phe385=)
c.*1162C>T (n.*1162C>T)
c.*808C>T (n.*808C>T)
c.1425C>T (p.Phe475=)
n.2095C>T
n.50C>T
c.1542C>T (p.Phe514=)
c.1557C>T (p.Phe519=)
c.*1433C>T (n.*1433C>T)
c.1509C>T (p.Phe503=)
n.1771C>T
c.1674C>T (p.Phe558=)
c.1503C>T (p.Phe501=)
c.1500C>T (p.Phe500=)
c.1650C>T (p.Phe550=)
c.1449C>T (p.Phe483=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
10g.69382767G>ACA376910302HK1c.1546G>A (p.Val516Ile)
c.1462G>A (p.Val488Ile)
c.1265+2672G>A (n.1265+2672G>A)
c.1156G>A (p.Val386Ile)
c.*1163G>A (n.*1163G>A)
c.*809G>A (n.*809G>A)
c.1426G>A (p.Val476Ile)
n.2096G>A
n.51G>A
c.1543G>A (p.Val515Ile)
c.1558G>A (p.Val520Ile)
c.*1434G>A (n.*1434G>A)
c.1510G>A (p.Val504Ile)
n.1772G>A
c.1675G>A (p.Val559Ile)
c.1504G>A (p.Val502Ile)
c.1501G>A (p.Val501Ile)
c.1651G>A (p.Val551Ile)
c.1450G>A (p.Val484Ile)
 COSMIC COSMIC COSMIC COSMIC
10g.69382767G>CCA376910304HK1c.1546G>C (p.Val516Leu)
c.1462G>C (p.Val488Leu)
c.1265+2672G>C (n.1265+2672G>C)
c.1156G>C (p.Val386Leu)
c.*1163G>C (n.*1163G>C)
c.*809G>C (n.*809G>C)
c.1426G>C (p.Val476Leu)
n.2096G>C
n.51G>C
c.1543G>C (p.Val515Leu)
c.1558G>C (p.Val520Leu)
c.*1434G>C (n.*1434G>C)
c.1510G>C (p.Val504Leu)
n.1772G>C
c.1675G>C (p.Val559Leu)
c.1504G>C (p.Val502Leu)
c.1501G>C (p.Val501Leu)
c.1651G>C (p.Val551Leu)
c.1450G>C (p.Val484Leu)
 gnomAD v4
10g.69382767G=CA1917772311HK1c.1546G= (p.Val516=)
c.1462G= (p.Val488=)
c.1265+2672G= (n.1265+2672G=)
c.1156G= (p.Val386=)
c.*1163G= (n.*1163G=)
c.*809G= (n.*809G=)
c.1426G= (p.Val476=)
n.2096G=
n.51G=
c.1543G= (p.Val515=)
c.1558G= (p.Val520=)
c.*1434G= (n.*1434G=)
c.1510G= (p.Val504=)
n.1772G=
c.1675G= (p.Val559=)
c.1504G= (p.Val502=)
c.1501G= (p.Val501=)
c.1651G= (p.Val551=)
c.1450G= (p.Val484=)
10g.69382767G>TCA376910305HK1c.1546G>T (p.Val516Phe)
c.1462G>T (p.Val488Phe)
c.1265+2672G>T (n.1265+2672G>T)
c.1156G>T (p.Val386Phe)
c.*1163G>T (n.*1163G>T)
c.*809G>T (n.*809G>T)
c.1426G>T (p.Val476Phe)
n.2096G>T
n.51G>T
c.1543G>T (p.Val515Phe)
c.1558G>T (p.Val520Phe)
c.*1434G>T (n.*1434G>T)
c.1510G>T (p.Val504Phe)
n.1772G>T
c.1675G>T (p.Val559Phe)
c.1504G>T (p.Val502Phe)
c.1501G>T (p.Val501Phe)
c.1651G>T (p.Val551Phe)
c.1450G>T (p.Val484Phe)
 dbSNP gnomAD v2
10g.69382768T>ACA376910311HK1c.1547T>A (p.Val516Asp)
c.1463T>A (p.Val488Asp)
c.1265+2673T>A (n.1265+2673T>A)
c.1157T>A (p.Val386Asp)
c.*1164T>A (n.*1164T>A)
c.*810T>A (n.*810T>A)
c.1427T>A (p.Val476Asp)
n.2097T>A
n.52T>A
c.1544T>A (p.Val515Asp)
c.1559T>A (p.Val520Asp)
c.*1435T>A (n.*1435T>A)
c.1511T>A (p.Val504Asp)
n.1773T>A
c.1676T>A (p.Val559Asp)
c.1505T>A (p.Val502Asp)
c.1502T>A (p.Val501Asp)
c.1652T>A (p.Val551Asp)
c.1451T>A (p.Val484Asp)
10g.69382768T>CCA376910310HK1c.1547T>C (p.Val516Ala)
c.1463T>C (p.Val488Ala)
c.1265+2673T>C (n.1265+2673T>C)
c.1157T>C (p.Val386Ala)
c.*1164T>C (n.*1164T>C)
c.*810T>C (n.*810T>C)
c.1427T>C (p.Val476Ala)
n.2097T>C
n.52T>C
c.1544T>C (p.Val515Ala)
c.1559T>C (p.Val520Ala)
c.*1435T>C (n.*1435T>C)
c.1511T>C (p.Val504Ala)
n.1773T>C
c.1676T>C (p.Val559Ala)
c.1505T>C (p.Val502Ala)
c.1502T>C (p.Val501Ala)
c.1652T>C (p.Val551Ala)
c.1451T>C (p.Val484Ala)
10g.69382768T>GCA376910308HK1c.1547T>G (p.Val516Gly)
c.1463T>G (p.Val488Gly)
c.1265+2673T>G (n.1265+2673T>G)
c.1157T>G (p.Val386Gly)
c.*1164T>G (n.*1164T>G)
c.*810T>G (n.*810T>G)
c.1427T>G (p.Val476Gly)
n.2097T>G
n.52T>G
c.1544T>G (p.Val515Gly)
c.1559T>G (p.Val520Gly)
c.*1435T>G (n.*1435T>G)
c.1511T>G (p.Val504Gly)
n.1773T>G
c.1676T>G (p.Val559Gly)
c.1505T>G (p.Val502Gly)
c.1502T>G (p.Val501Gly)
c.1652T>G (p.Val551Gly)
c.1451T>G (p.Val484Gly)
10g.69382769C>ACA470276634HK1c.1548C>A (p.Val516=)
c.1464C>A (p.Val488=)
c.1265+2674C>A (n.1265+2674C>A)
c.1158C>A (p.Val386=)
c.*1165C>A (n.*1165C>A)
c.*811C>A (n.*811C>A)
c.1428C>A (p.Val476=)
n.2098C>A
n.53C>A
c.1545C>A (p.Val515=)
c.1560C>A (p.Val520=)
c.*1436C>A (n.*1436C>A)
c.1512C>A (p.Val504=)
n.1774C>A
c.1677C>A (p.Val559=)
c.1506C>A (p.Val502=)
c.1503C>A (p.Val501=)
c.1653C>A (p.Val551=)
c.1452C>A (p.Val484=)
10g.69382769C>GCA470276636HK1c.1548C>G (p.Val516=)
c.1464C>G (p.Val488=)
c.1265+2674C>G (n.1265+2674C>G)
c.1158C>G (p.Val386=)
c.*1165C>G (n.*1165C>G)
c.*811C>G (n.*811C>G)
c.1428C>G (p.Val476=)
n.2098C>G
n.53C>G
c.1545C>G (p.Val515=)
c.1560C>G (p.Val520=)
c.*1436C>G (n.*1436C>G)
c.1512C>G (p.Val504=)
n.1774C>G
c.1677C>G (p.Val559=)
c.1506C>G (p.Val502=)
c.1503C>G (p.Val501=)
c.1653C>G (p.Val551=)
c.1452C>G (p.Val484=)
10g.69382769C>TCA470276635HK1c.1548C>T (p.Val516=)
c.1464C>T (p.Val488=)
c.1265+2674C>T (n.1265+2674C>T)
c.1158C>T (p.Val386=)
c.*1165C>T (n.*1165C>T)
c.*811C>T (n.*811C>T)
c.1428C>T (p.Val476=)
n.2098C>T
n.53C>T
c.1545C>T (p.Val515=)
c.1560C>T (p.Val520=)
c.*1436C>T (n.*1436C>T)
c.1512C>T (p.Val504=)
n.1774C>T
c.1677C>T (p.Val559=)
c.1506C>T (p.Val502=)
c.1503C>T (p.Val501=)
c.1653C>T (p.Val551=)
c.1452C>T (p.Val484=)
10g.69382770C>ACA470276637HK1c.1549C>A (p.Arg517=)
c.1465C>A (p.Arg489=)
c.1265+2675C>A (n.1265+2675C>A)
c.1159C>A (p.Arg387=)
c.*1166C>A (n.*1166C>A)
c.*812C>A (n.*812C>A)
c.1429C>A (p.Arg477=)
n.2099C>A
n.54C>A
c.1546C>A (p.Arg516=)
c.1561C>A (p.Arg521=)
c.*1437C>A (n.*1437C>A)
c.1513C>A (p.Arg505=)
n.1775C>A
c.1678C>A (p.Arg560=)
c.1507C>A (p.Arg503=)
c.1504C>A (p.Arg502=)
c.1654C>A (p.Arg552=)
c.1453C>A (p.Arg485=)
 gnomAD v4
10g.69382770C=CA1917772314HK1c.1549C= (p.Arg517=)
c.1465C= (p.Arg489=)
c.1265+2675C= (n.1265+2675C=)
c.1159C= (p.Arg387=)
c.*1166C= (n.*1166C=)
c.*812C= (n.*812C=)
c.1429C= (p.Arg477=)
n.2099C=
n.54C=
c.1546C= (p.Arg516=)
c.1561C= (p.Arg521=)
c.*1437C= (n.*1437C=)
c.1513C= (p.Arg505=)
n.1775C=
c.1678C= (p.Arg560=)
c.1507C= (p.Arg503=)
c.1504C= (p.Arg502=)
c.1654C= (p.Arg552=)
c.1453C= (p.Arg485=)
10g.69382770C>GCA376910313HK1c.1549C>G (p.Arg517Gly)
c.1465C>G (p.Arg489Gly)
c.1265+2675C>G (n.1265+2675C>G)
c.1159C>G (p.Arg387Gly)
c.*1166C>G (n.*1166C>G)
c.*812C>G (n.*812C>G)
c.1429C>G (p.Arg477Gly)
n.2099C>G
n.54C>G
c.1546C>G (p.Arg516Gly)
c.1561C>G (p.Arg521Gly)
c.*1437C>G (n.*1437C>G)
c.1513C>G (p.Arg505Gly)
n.1775C>G
c.1678C>G (p.Arg560Gly)
c.1507C>G (p.Arg503Gly)
c.1504C>G (p.Arg502Gly)
c.1654C>G (p.Arg552Gly)
c.1453C>G (p.Arg485Gly)
10g.69382770C>TCA5532621HK1c.1549C>T (p.Arg517Trp)
c.1465C>T (p.Arg489Trp)
c.1265+2675C>T (n.1265+2675C>T)
c.1159C>T (p.Arg387Trp)
c.*1166C>T (n.*1166C>T)
c.*812C>T (n.*812C>T)
c.1429C>T (p.Arg477Trp)
n.2099C>T
n.54C>T
c.1546C>T (p.Arg516Trp)
c.1561C>T (p.Arg521Trp)
c.*1437C>T (n.*1437C>T)
c.1513C>T (p.Arg505Trp)
n.1775C>T
c.1678C>T (p.Arg560Trp)
c.1507C>T (p.Arg503Trp)
c.1504C>T (p.Arg502Trp)
c.1654C>T (p.Arg552Trp)
c.1453C>T (p.Arg485Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.69382771G>ACA376910318HK1c.1550G>A (p.Arg517Gln)
c.1466G>A (p.Arg489Gln)
c.1265+2676G>A (n.1265+2676G>A)
c.1160G>A (p.Arg387Gln)
c.*1167G>A (n.*1167G>A)
c.*813G>A (n.*813G>A)
c.1430G>A (p.Arg477Gln)
n.2100G>A
n.55G>A
c.1547G>A (p.Arg516Gln)
c.1562G>A (p.Arg521Gln)
c.*1438G>A (n.*1438G>A)
c.1514G>A (p.Arg505Gln)
n.1776G>A
c.1679G>A (p.Arg560Gln)
c.1508G>A (p.Arg503Gln)
c.1505G>A (p.Arg502Gln)
c.1655G>A (p.Arg552Gln)
c.1454G>A (p.Arg485Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.69382771G>CCA376910319HK1c.1550G>C (p.Arg517Pro)
c.1466G>C (p.Arg489Pro)
c.1265+2676G>C (n.1265+2676G>C)
c.1160G>C (p.Arg387Pro)
c.*1167G>C (n.*1167G>C)
c.*813G>C (n.*813G>C)
c.1430G>C (p.Arg477Pro)
n.2100G>C
n.55G>C
c.1547G>C (p.Arg516Pro)
c.1562G>C (p.Arg521Pro)
c.*1438G>C (n.*1438G>C)
c.1514G>C (p.Arg505Pro)
n.1776G>C
c.1679G>C (p.Arg560Pro)
c.1508G>C (p.Arg503Pro)
c.1505G>C (p.Arg502Pro)
c.1655G>C (p.Arg552Pro)
c.1454G>C (p.Arg485Pro)
10g.69382771G=CA1917772318HK1c.1550G= (p.Arg517=)
c.1466G= (p.Arg489=)
c.1265+2676G= (n.1265+2676G=)
c.1160G= (p.Arg387=)
c.*1167G= (n.*1167G=)
c.*813G= (n.*813G=)
c.1430G= (p.Arg477=)
n.2100G=
n.55G=
c.1547G= (p.Arg516=)
c.1562G= (p.Arg521=)
c.*1438G= (n.*1438G=)
c.1514G= (p.Arg505=)
n.1776G=
c.1679G= (p.Arg560=)
c.1508G= (p.Arg503=)
c.1505G= (p.Arg502=)
c.1655G= (p.Arg552=)
c.1454G= (p.Arg485=)
10g.69382771G>TCA376910323HK1c.1550G>T (p.Arg517Leu)
c.1466G>T (p.Arg489Leu)
c.1265+2676G>T (n.1265+2676G>T)
c.1160G>T (p.Arg387Leu)
c.*1167G>T (n.*1167G>T)
c.*813G>T (n.*813G>T)
c.1430G>T (p.Arg477Leu)
n.2100G>T
n.55G>T
c.1547G>T (p.Arg516Leu)
c.1562G>T (p.Arg521Leu)
c.*1438G>T (n.*1438G>T)
c.1514G>T (p.Arg505Leu)
n.1776G>T
c.1679G>T (p.Arg560Leu)
c.1508G>T (p.Arg503Leu)
c.1505G>T (p.Arg502Leu)
c.1655G>T (p.Arg552Leu)
c.1454G>T (p.Arg485Leu)
10g.69382772G>ACA470276638HK1c.1551G>A (p.Arg517=)
c.1467G>A (p.Arg489=)
c.1265+2677G>A (n.1265+2677G>A)
c.1161G>A (p.Arg387=)
c.*1168G>A (n.*1168G>A)
c.*814G>A (n.*814G>A)
c.1431G>A (p.Arg477=)
n.2101G>A
n.56G>A
c.1548G>A (p.Arg516=)
c.1563G>A (p.Arg521=)
c.*1439G>A (n.*1439G>A)
c.1515G>A (p.Arg505=)
n.1777G>A
c.1680G>A (p.Arg560=)
c.1509G>A (p.Arg503=)
c.1506G>A (p.Arg502=)
c.1656G>A (p.Arg552=)
c.1455G>A (p.Arg485=)
10g.69382772G>CCA470276639HK1c.1551G>C (p.Arg517=)
c.1467G>C (p.Arg489=)
c.1265+2677G>C (n.1265+2677G>C)
c.1161G>C (p.Arg387=)
c.*1168G>C (n.*1168G>C)
c.*814G>C (n.*814G>C)
c.1431G>C (p.Arg477=)
n.2101G>C
n.56G>C
c.1548G>C (p.Arg516=)
c.1563G>C (p.Arg521=)
c.*1439G>C (n.*1439G>C)
c.1515G>C (p.Arg505=)
n.1777G>C
c.1680G>C (p.Arg560=)
c.1509G>C (p.Arg503=)
c.1506G>C (p.Arg502=)
c.1656G>C (p.Arg552=)
c.1455G>C (p.Arg485=)
10g.69382772G>TCA470276642HK1c.1551G>T (p.Arg517=)
c.1467G>T (p.Arg489=)
c.1265+2677G>T (n.1265+2677G>T)
c.1161G>T (p.Arg387=)
c.*1168G>T (n.*1168G>T)
c.*814G>T (n.*814G>T)
c.1431G>T (p.Arg477=)
n.2101G>T
n.56G>T
c.1548G>T (p.Arg516=)
c.1563G>T (p.Arg521=)
c.*1439G>T (n.*1439G>T)
c.1515G>T (p.Arg505=)
n.1777G>T
c.1680G>T (p.Arg560=)
c.1509G>T (p.Arg503=)
c.1506G>T (p.Arg502=)
c.1656G>T (p.Arg552=)
c.1455G>T (p.Arg485=)
10g.69382773A>CCA470276643HK1c.1552A>C (p.Arg518=)
c.1468A>C (p.Arg490=)
c.1265+2678A>C (n.1265+2678A>C)
c.1162A>C (p.Arg388=)
c.*1169A>C (n.*1169A>C)
c.*815A>C (n.*815A>C)
c.1432A>C (p.Arg478=)
n.2102A>C
n.57A>C
c.1549A>C (p.Arg517=)
c.1564A>C (p.Arg522=)
c.*1440A>C (n.*1440A>C)
c.1516A>C (p.Arg506=)
n.1778A>C
c.1681A>C (p.Arg561=)
c.1510A>C (p.Arg504=)
c.1507A>C (p.Arg503=)
c.1657A>C (p.Arg553=)
c.1456A>C (p.Arg486=)
10g.69382773A>GCA376910326HK1c.1552A>G (p.Arg518Gly)
c.1468A>G (p.Arg490Gly)
c.1265+2678A>G (n.1265+2678A>G)
c.1162A>G (p.Arg388Gly)
c.*1169A>G (n.*1169A>G)
c.*815A>G (n.*815A>G)
c.1432A>G (p.Arg478Gly)
n.2102A>G
n.57A>G
c.1549A>G (p.Arg517Gly)
c.1564A>G (p.Arg522Gly)
c.*1440A>G (n.*1440A>G)
c.1516A>G (p.Arg506Gly)
n.1778A>G
c.1681A>G (p.Arg561Gly)
c.1510A>G (p.Arg504Gly)
c.1507A>G (p.Arg503Gly)
c.1657A>G (p.Arg553Gly)
c.1456A>G (p.Arg486Gly)
10g.69382773A>TCA376910330HK1c.1552A>T (p.Arg518Ter)
c.1468A>T (p.Arg490Ter)
c.1265+2678A>T (n.1265+2678A>T)
c.1162A>T (p.Arg388Ter)
c.*1169A>T (n.*1169A>T)
c.*815A>T (n.*815A>T)
c.1432A>T (p.Arg478Ter)
n.2102A>T
n.57A>T
c.1549A>T (p.Arg517Ter)
c.1564A>T (p.Arg522Ter)
c.*1440A>T (n.*1440A>T)
c.1516A>T (p.Arg506Ter)
n.1778A>T
c.1681A>T (p.Arg561Ter)
c.1510A>T (p.Arg504Ter)
c.1507A>T (p.Arg503Ter)
c.1657A>T (p.Arg553Ter)
c.1456A>T (p.Arg486Ter)
10g.69382774G>ACA376910337HK1c.1553G>A (p.Arg518Lys)
c.1469G>A (p.Arg490Lys)
c.1265+2679G>A (n.1265+2679G>A)
c.1163G>A (p.Arg388Lys)
c.*1170G>A (n.*1170G>A)
c.*816G>A (n.*816G>A)
c.1433G>A (p.Arg478Lys)
n.2103G>A
n.58G>A
c.1550G>A (p.Arg517Lys)
c.1565G>A (p.Arg522Lys)
c.*1441G>A (n.*1441G>A)
c.1517G>A (p.Arg506Lys)
n.1779G>A
c.1682G>A (p.Arg561Lys)
c.1511G>A (p.Arg504Lys)
c.1508G>A (p.Arg503Lys)
c.1658G>A (p.Arg553Lys)
c.1457G>A (p.Arg486Lys)
10g.69382774G>CCA376910340HK1c.1553G>C (p.Arg518Thr)
c.1469G>C (p.Arg490Thr)
c.1265+2679G>C (n.1265+2679G>C)
c.1163G>C (p.Arg388Thr)
c.*1170G>C (n.*1170G>C)
c.*816G>C (n.*816G>C)
c.1433G>C (p.Arg478Thr)
n.2103G>C
n.58G>C
c.1550G>C (p.Arg517Thr)
c.1565G>C (p.Arg522Thr)
c.*1441G>C (n.*1441G>C)
c.1517G>C (p.Arg506Thr)
n.1779G>C
c.1682G>C (p.Arg561Thr)
c.1511G>C (p.Arg504Thr)
c.1508G>C (p.Arg503Thr)
c.1658G>C (p.Arg553Thr)
c.1457G>C (p.Arg486Thr)
10g.69382774G>TCA376910341HK1c.1553G>T (p.Arg518Ile)
c.1469G>T (p.Arg490Ile)
c.1265+2679G>T (n.1265+2679G>T)
c.1163G>T (p.Arg388Ile)
c.*1170G>T (n.*1170G>T)
c.*816G>T (n.*816G>T)
c.1433G>T (p.Arg478Ile)
n.2103G>T
n.58G>T
c.1550G>T (p.Arg517Ile)
c.1565G>T (p.Arg522Ile)
c.*1441G>T (n.*1441G>T)
c.1517G>T (p.Arg506Ile)
n.1779G>T
c.1682G>T (p.Arg561Ile)
c.1511G>T (p.Arg504Ile)
c.1508G>T (p.Arg503Ile)
c.1658G>T (p.Arg553Ile)
c.1457G>T (p.Arg486Ile)
10g.69382775A=CA1917772322HK1c.1554A= (p.Arg518=)
c.1470A= (p.Arg490=)
c.1265+2680A= (n.1265+2680A=)
c.1164A= (p.Arg388=)
c.*1171A= (n.*1171A=)
c.*817A= (n.*817A=)
c.1434A= (p.Arg478=)
n.2104A=
n.59A=
c.1551A= (p.Arg517=)
c.1566A= (p.Arg522=)
c.*1442A= (n.*1442A=)
c.1518A= (p.Arg506=)
n.1780A=
c.1683A= (p.Arg561=)
c.1512A= (p.Arg504=)
c.1509A= (p.Arg503=)
c.1659A= (p.Arg553=)
c.1458A= (p.Arg486=)
10g.69382775A>CCA376910346HK1c.1554A>C (p.Arg518Ser)
c.1470A>C (p.Arg490Ser)
c.1265+2680A>C (n.1265+2680A>C)
c.1164A>C (p.Arg388Ser)
c.*1171A>C (n.*1171A>C)
c.*817A>C (n.*817A>C)
c.1434A>C (p.Arg478Ser)
n.2104A>C
n.59A>C
c.1551A>C (p.Arg517Ser)
c.1566A>C (p.Arg522Ser)
c.*1442A>C (n.*1442A>C)
c.1518A>C (p.Arg506Ser)
n.1780A>C
c.1683A>C (p.Arg561Ser)
c.1512A>C (p.Arg504Ser)
c.1509A>C (p.Arg503Ser)
c.1659A>C (p.Arg553Ser)
c.1458A>C (p.Arg486Ser)
10g.69382775A>GCA470276644HK1c.1554A>G (p.Arg518=)
c.1470A>G (p.Arg490=)
c.1265+2680A>G (n.1265+2680A>G)
c.1164A>G (p.Arg388=)
c.*1171A>G (n.*1171A>G)
c.*817A>G (n.*817A>G)
c.1434A>G (p.Arg478=)
n.2104A>G
n.59A>G
c.1551A>G (p.Arg517=)
c.1566A>G (p.Arg522=)
c.*1442A>G (n.*1442A>G)
c.1518A>G (p.Arg506=)
n.1780A>G
c.1683A>G (p.Arg561=)
c.1512A>G (p.Arg504=)
c.1509A>G (p.Arg503=)
c.1659A>G (p.Arg553=)
c.1458A>G (p.Arg486=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.69382775A>TCA376910348HK1c.1554A>T (p.Arg518Ser)
c.1470A>T (p.Arg490Ser)
c.1265+2680A>T (n.1265+2680A>T)
c.1164A>T (p.Arg388Ser)
c.*1171A>T (n.*1171A>T)
c.*817A>T (n.*817A>T)
c.1434A>T (p.Arg478Ser)
n.2104A>T
n.59A>T
c.1551A>T (p.Arg517Ser)
c.1566A>T (p.Arg522Ser)
c.*1442A>T (n.*1442A>T)
c.1518A>T (p.Arg506Ser)
n.1780A>T
c.1683A>T (p.Arg561Ser)
c.1512A>T (p.Arg504Ser)
c.1509A>T (p.Arg503Ser)
c.1659A>T (p.Arg553Ser)
c.1458A>T (p.Arg486Ser)
10g.69382776A>CCA376910357HK1c.1555A>C (p.Thr519Pro)
c.1471A>C (p.Thr491Pro)
c.1265+2681A>C (n.1265+2681A>C)
c.1165A>C (p.Thr389Pro)
c.*1172A>C (n.*1172A>C)
c.*818A>C (n.*818A>C)
c.1435A>C (p.Thr479Pro)
n.2105A>C
n.60A>C
c.1552A>C (p.Thr518Pro)
c.1567A>C (p.Thr523Pro)
c.*1443A>C (n.*1443A>C)
c.1519A>C (p.Thr507Pro)
n.1781A>C
c.1684A>C (p.Thr562Pro)
c.1513A>C (p.Thr505Pro)
c.1510A>C (p.Thr504Pro)
c.1660A>C (p.Thr554Pro)
c.1459A>C (p.Thr487Pro)
10g.69382776A>GCA376910354HK1c.1555A>G (p.Thr519Ala)
c.1471A>G (p.Thr491Ala)
c.1265+2681A>G (n.1265+2681A>G)
c.1165A>G (p.Thr389Ala)
c.*1172A>G (n.*1172A>G)
c.*818A>G (n.*818A>G)
c.1435A>G (p.Thr479Ala)
n.2105A>G
n.60A>G
c.1552A>G (p.Thr518Ala)
c.1567A>G (p.Thr523Ala)
c.*1443A>G (n.*1443A>G)
c.1519A>G (p.Thr507Ala)
n.1781A>G
c.1684A>G (p.Thr562Ala)
c.1513A>G (p.Thr505Ala)
c.1510A>G (p.Thr504Ala)
c.1660A>G (p.Thr554Ala)
c.1459A>G (p.Thr487Ala)
10g.69382776A>TCA376910351HK1c.1555A>T (p.Thr519Ser)
c.1471A>T (p.Thr491Ser)
c.1265+2681A>T (n.1265+2681A>T)
c.1165A>T (p.Thr389Ser)
c.*1172A>T (n.*1172A>T)
c.*818A>T (n.*818A>T)
c.1435A>T (p.Thr479Ser)
n.2105A>T
n.60A>T
c.1552A>T (p.Thr518Ser)
c.1567A>T (p.Thr523Ser)
c.*1443A>T (n.*1443A>T)
c.1519A>T (p.Thr507Ser)
n.1781A>T
c.1684A>T (p.Thr562Ser)
c.1513A>T (p.Thr505Ser)
c.1510A>T (p.Thr504Ser)
c.1660A>T (p.Thr554Ser)
c.1459A>T (p.Thr487Ser)

Number of alleles fetched