Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.2934925C>ACA515396427ARSLc.1677G>T (p.Leu559=)
c.1752G>T (p.Leu584=)
c.1554G>T (p.Leu518=)
c.1116G>T (p.Leu372=)
n.1457G>T
c.1665G>T (p.Leu555=)
c.1230G>T (p.Leu410=)
c.1515G>T (p.Leu505=)
c.1674G>T (p.Leu558=)
c.1542G>T (p.Leu514=)
c.1704G>T (p.Leu568=)
c.1191G>T (p.Leu397=)
Xg.2934925C>GCA515396426ARSLc.1677G>C (p.Leu559=)
c.1752G>C (p.Leu584=)
c.1554G>C (p.Leu518=)
c.1116G>C (p.Leu372=)
n.1457G>C
c.1665G>C (p.Leu555=)
c.1230G>C (p.Leu410=)
c.1515G>C (p.Leu505=)
c.1674G>C (p.Leu558=)
c.1542G>C (p.Leu514=)
c.1704G>C (p.Leu568=)
c.1191G>C (p.Leu397=)
Xg.2934925C>TCA515396423ARSLc.1677G>A (p.Leu559=)
c.1752G>A (p.Leu584=)
c.1554G>A (p.Leu518=)
c.1116G>A (p.Leu372=)
n.1457G>A
c.1665G>A (p.Leu555=)
c.1230G>A (p.Leu410=)
c.1515G>A (p.Leu505=)
c.1674G>A (p.Leu558=)
c.1542G>A (p.Leu514=)
c.1704G>A (p.Leu568=)
c.1191G>A (p.Leu397=)
 gnomAD v4
Xg.2934926A>CCA412275234ARSLc.1676T>G (p.Leu559Arg)
c.1751T>G (p.Leu584Arg)
c.1553T>G (p.Leu518Arg)
c.1115T>G (p.Leu372Arg)
n.1456T>G
c.1664T>G (p.Leu555Arg)
c.1229T>G (p.Leu410Arg)
c.1514T>G (p.Leu505Arg)
c.1673T>G (p.Leu558Arg)
c.1541T>G (p.Leu514Arg)
c.1703T>G (p.Leu568Arg)
c.1190T>G (p.Leu397Arg)
Xg.2934926A>GCA412275235ARSLc.1676T>C (p.Leu559Pro)
c.1751T>C (p.Leu584Pro)
c.1553T>C (p.Leu518Pro)
c.1115T>C (p.Leu372Pro)
n.1456T>C
c.1664T>C (p.Leu555Pro)
c.1229T>C (p.Leu410Pro)
c.1514T>C (p.Leu505Pro)
c.1673T>C (p.Leu558Pro)
c.1541T>C (p.Leu514Pro)
c.1703T>C (p.Leu568Pro)
c.1190T>C (p.Leu397Pro)
Xg.2934926A>TCA412275233ARSLc.1676T>A (p.Leu559Gln)
c.1751T>A (p.Leu584Gln)
c.1553T>A (p.Leu518Gln)
c.1115T>A (p.Leu372Gln)
n.1456T>A
c.1664T>A (p.Leu555Gln)
c.1229T>A (p.Leu410Gln)
c.1514T>A (p.Leu505Gln)
c.1673T>A (p.Leu558Gln)
c.1541T>A (p.Leu514Gln)
c.1703T>A (p.Leu568Gln)
c.1190T>A (p.Leu397Gln)
Xg.2934927G>ACA515396429ARSLc.1675C>T (p.Leu559=)
c.1750C>T (p.Leu584=)
c.1552C>T (p.Leu518=)
c.1114C>T (p.Leu372=)
n.1455C>T
c.1663C>T (p.Leu555=)
c.1228C>T (p.Leu410=)
c.1513C>T (p.Leu505=)
c.1672C>T (p.Leu558=)
c.1540C>T (p.Leu514=)
c.1702C>T (p.Leu568=)
c.1189C>T (p.Leu397=)
Xg.2934927G>CCA10337973ARSLc.1675C>G (p.Leu559Val)
c.1750C>G (p.Leu584Val)
c.1552C>G (p.Leu518Val)
c.1114C>G (p.Leu372Val)
n.1455C>G
c.1663C>G (p.Leu555Val)
c.1228C>G (p.Leu410Val)
c.1513C>G (p.Leu505Val)
c.1672C>G (p.Leu558Val)
c.1540C>G (p.Leu514Val)
c.1702C>G (p.Leu568Val)
c.1189C>G (p.Leu397Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.2934927G=CA2412580511ARSLc.1675C= (p.Leu559=)
c.1750C= (p.Leu584=)
c.1552C= (p.Leu518=)
c.1114C= (p.Leu372=)
n.1455C=
c.1663C= (p.Leu555=)
c.1228C= (p.Leu410=)
c.1513C= (p.Leu505=)
c.1672C= (p.Leu558=)
c.1540C= (p.Leu514=)
c.1702C= (p.Leu568=)
c.1189C= (p.Leu397=)
Xg.2934927G>TCA412275236ARSLc.1675C>A (p.Leu559Met)
c.1750C>A (p.Leu584Met)
c.1552C>A (p.Leu518Met)
c.1114C>A (p.Leu372Met)
n.1455C>A
c.1663C>A (p.Leu555Met)
c.1228C>A (p.Leu410Met)
c.1513C>A (p.Leu505Met)
c.1672C>A (p.Leu558Met)
c.1540C>A (p.Leu514Met)
c.1702C>A (p.Leu568Met)
c.1189C>A (p.Leu397Met)
Xg.2934928C>ACA412275237ARSLc.1674G>T (p.Gln558His)
c.1749G>T (p.Gln583His)
c.1551G>T (p.Gln517His)
c.1113G>T (p.Gln371His)
n.1454G>T
c.1662G>T (p.Gln554His)
c.1227G>T (p.Gln409His)
c.1512G>T (p.Gln504His)
c.1671G>T (p.Gln557His)
c.1539G>T (p.Gln513His)
c.1701G>T (p.Gln567His)
c.1188G>T (p.Gln396His)
 gnomAD v4
Xg.2934928C>GCA412275238ARSLc.1674G>C (p.Gln558His)
c.1749G>C (p.Gln583His)
c.1551G>C (p.Gln517His)
c.1113G>C (p.Gln371His)
n.1454G>C
c.1662G>C (p.Gln554His)
c.1227G>C (p.Gln409His)
c.1512G>C (p.Gln504His)
c.1671G>C (p.Gln557His)
c.1539G>C (p.Gln513His)
c.1701G>C (p.Gln567His)
c.1188G>C (p.Gln396His)
Xg.2934928C>TCA515396430ARSLc.1674G>A (p.Gln558=)
c.1749G>A (p.Gln583=)
c.1551G>A (p.Gln517=)
c.1113G>A (p.Gln371=)
n.1454G>A
c.1662G>A (p.Gln554=)
c.1227G>A (p.Gln409=)
c.1512G>A (p.Gln504=)
c.1671G>A (p.Gln557=)
c.1539G>A (p.Gln513=)
c.1701G>A (p.Gln567=)
c.1188G>A (p.Gln396=)
Xg.2934929T>ACA412275239ARSLc.1673A>T (p.Gln558Leu)
c.1748A>T (p.Gln583Leu)
c.1550A>T (p.Gln517Leu)
c.1112A>T (p.Gln371Leu)
n.1453A>T
c.1661A>T (p.Gln554Leu)
c.1226A>T (p.Gln409Leu)
c.1511A>T (p.Gln504Leu)
c.1670A>T (p.Gln557Leu)
c.1538A>T (p.Gln513Leu)
c.1700A>T (p.Gln567Leu)
c.1187A>T (p.Gln396Leu)
Xg.2934929T>CCA412275240ARSLc.1673A>G (p.Gln558Arg)
c.1748A>G (p.Gln583Arg)
c.1550A>G (p.Gln517Arg)
c.1112A>G (p.Gln371Arg)
n.1453A>G
c.1661A>G (p.Gln554Arg)
c.1226A>G (p.Gln409Arg)
c.1511A>G (p.Gln504Arg)
c.1670A>G (p.Gln557Arg)
c.1538A>G (p.Gln513Arg)
c.1700A>G (p.Gln567Arg)
c.1187A>G (p.Gln396Arg)
Xg.2934929T>GCA412275241ARSLc.1673A>C (p.Gln558Pro)
c.1748A>C (p.Gln583Pro)
c.1550A>C (p.Gln517Pro)
c.1112A>C (p.Gln371Pro)
n.1453A>C
c.1661A>C (p.Gln554Pro)
c.1226A>C (p.Gln409Pro)
c.1511A>C (p.Gln504Pro)
c.1670A>C (p.Gln557Pro)
c.1538A>C (p.Gln513Pro)
c.1700A>C (p.Gln567Pro)
c.1187A>C (p.Gln396Pro)
Xg.2934930G>ACA412275242ARSLc.1672C>T (p.Gln558Ter)
c.1747C>T (p.Gln583Ter)
c.1549C>T (p.Gln517Ter)
c.1111C>T (p.Gln371Ter)
n.1452C>T
c.1660C>T (p.Gln554Ter)
c.1225C>T (p.Gln409Ter)
c.1510C>T (p.Gln504Ter)
c.1669C>T (p.Gln557Ter)
c.1537C>T (p.Gln513Ter)
c.1699C>T (p.Gln567Ter)
c.1186C>T (p.Gln396Ter)
Xg.2934930G>CCA412275243ARSLc.1672C>G (p.Gln558Glu)
c.1747C>G (p.Gln583Glu)
c.1549C>G (p.Gln517Glu)
c.1111C>G (p.Gln371Glu)
n.1452C>G
c.1660C>G (p.Gln554Glu)
c.1225C>G (p.Gln409Glu)
c.1510C>G (p.Gln504Glu)
c.1669C>G (p.Gln557Glu)
c.1537C>G (p.Gln513Glu)
c.1699C>G (p.Gln567Glu)
c.1186C>G (p.Gln396Glu)
Xg.2934930G=CA2412580512ARSLc.1672C= (p.Gln558=)
c.1747C= (p.Gln583=)
c.1549C= (p.Gln517=)
c.1111C= (p.Gln371=)
n.1452C=
c.1660C= (p.Gln554=)
c.1225C= (p.Gln409=)
c.1510C= (p.Gln504=)
c.1669C= (p.Gln557=)
c.1537C= (p.Gln513=)
c.1699C= (p.Gln567=)
c.1186C= (p.Gln396=)
Xg.2934930G>TCA412275244ARSLc.1672C>A (p.Gln558Lys)
c.1747C>A (p.Gln583Lys)
c.1549C>A (p.Gln517Lys)
c.1111C>A (p.Gln371Lys)
n.1452C>A
c.1660C>A (p.Gln554Lys)
c.1225C>A (p.Gln409Lys)
c.1510C>A (p.Gln504Lys)
c.1669C>A (p.Gln557Lys)
c.1537C>A (p.Gln513Lys)
c.1699C>A (p.Gln567Lys)
c.1186C>A (p.Gln396Lys)
 ClinVar dbSNP
Xg.2934931C>ACA515396436ARSLc.1671G>T (p.Leu557=)
c.1746G>T (p.Leu582=)
c.1548G>T (p.Leu516=)
c.1110G>T (p.Leu370=)
n.1451G>T
c.1659G>T (p.Leu553=)
c.1224G>T (p.Leu408=)
c.1509G>T (p.Leu503=)
c.1668G>T (p.Leu556=)
c.1536G>T (p.Leu512=)
c.1698G>T (p.Leu566=)
c.1185G>T (p.Leu395=)
 gnomAD v4
Xg.2934931C>GCA515396441ARSLc.1671G>C (p.Leu557=)
c.1746G>C (p.Leu582=)
c.1548G>C (p.Leu516=)
c.1110G>C (p.Leu370=)
n.1451G>C
c.1659G>C (p.Leu553=)
c.1224G>C (p.Leu408=)
c.1509G>C (p.Leu503=)
c.1668G>C (p.Leu556=)
c.1536G>C (p.Leu512=)
c.1698G>C (p.Leu566=)
c.1185G>C (p.Leu395=)
Xg.2934931C>TCA515396438ARSLc.1671G>A (p.Leu557=)
c.1746G>A (p.Leu582=)
c.1548G>A (p.Leu516=)
c.1110G>A (p.Leu370=)
n.1451G>A
c.1659G>A (p.Leu553=)
c.1224G>A (p.Leu408=)
c.1509G>A (p.Leu503=)
c.1668G>A (p.Leu556=)
c.1536G>A (p.Leu512=)
c.1698G>A (p.Leu566=)
c.1185G>A (p.Leu395=)
Xg.2934932A>CCA412275245ARSLc.1670T>G (p.Leu557Arg)
c.1745T>G (p.Leu582Arg)
c.1547T>G (p.Leu516Arg)
c.1109T>G (p.Leu370Arg)
n.1450T>G
c.1658T>G (p.Leu553Arg)
c.1223T>G (p.Leu408Arg)
c.1508T>G (p.Leu503Arg)
c.1667T>G (p.Leu556Arg)
c.1535T>G (p.Leu512Arg)
c.1697T>G (p.Leu566Arg)
c.1184T>G (p.Leu395Arg)
Xg.2934932A>GCA412275246ARSLc.1670T>C (p.Leu557Pro)
c.1745T>C (p.Leu582Pro)
c.1547T>C (p.Leu516Pro)
c.1109T>C (p.Leu370Pro)
n.1450T>C
c.1658T>C (p.Leu553Pro)
c.1223T>C (p.Leu408Pro)
c.1508T>C (p.Leu503Pro)
c.1667T>C (p.Leu556Pro)
c.1535T>C (p.Leu512Pro)
c.1697T>C (p.Leu566Pro)
c.1184T>C (p.Leu395Pro)
 gnomAD v4
Xg.2934932A>TCA412275247ARSLc.1670T>A (p.Leu557Gln)
c.1745T>A (p.Leu582Gln)
c.1547T>A (p.Leu516Gln)
c.1109T>A (p.Leu370Gln)
n.1450T>A
c.1658T>A (p.Leu553Gln)
c.1223T>A (p.Leu408Gln)
c.1508T>A (p.Leu503Gln)
c.1667T>A (p.Leu556Gln)
c.1535T>A (p.Leu512Gln)
c.1697T>A (p.Leu566Gln)
c.1184T>A (p.Leu395Gln)
Xg.2934933G>ACA515396444ARSLc.1669C>T (p.Leu557=)
c.1744C>T (p.Leu582=)
c.1546C>T (p.Leu516=)
c.1108C>T (p.Leu370=)
n.1449C>T
c.1657C>T (p.Leu553=)
c.1222C>T (p.Leu408=)
c.1507C>T (p.Leu503=)
c.1666C>T (p.Leu556=)
c.1534C>T (p.Leu512=)
c.1696C>T (p.Leu566=)
c.1183C>T (p.Leu395=)
Xg.2934933G>CCA412275249ARSLc.1669C>G (p.Leu557Val)
c.1744C>G (p.Leu582Val)
c.1546C>G (p.Leu516Val)
c.1108C>G (p.Leu370Val)
n.1449C>G
c.1657C>G (p.Leu553Val)
c.1222C>G (p.Leu408Val)
c.1507C>G (p.Leu503Val)
c.1666C>G (p.Leu556Val)
c.1534C>G (p.Leu512Val)
c.1696C>G (p.Leu566Val)
c.1183C>G (p.Leu395Val)
Xg.2934933G>TCA412275248ARSLc.1669C>A (p.Leu557Met)
c.1744C>A (p.Leu582Met)
c.1546C>A (p.Leu516Met)
c.1108C>A (p.Leu370Met)
n.1449C>A
c.1657C>A (p.Leu553Met)
c.1222C>A (p.Leu408Met)
c.1507C>A (p.Leu503Met)
c.1666C>A (p.Leu556Met)
c.1534C>A (p.Leu512Met)
c.1696C>A (p.Leu566Met)
c.1183C>A (p.Leu395Met)
Xg.2934934A>CCA515396446ARSLc.1668T>G (p.Pro556=)
c.1743T>G (p.Pro581=)
c.1545T>G (p.Pro515=)
c.1107T>G (p.Pro369=)
n.1448T>G
c.1656T>G (p.Pro552=)
c.1221T>G (p.Pro407=)
c.1506T>G (p.Pro502=)
c.1665T>G (p.Pro555=)
c.1533T>G (p.Pro511=)
c.1695T>G (p.Pro565=)
c.1182T>G (p.Pro394=)
Xg.2934934A>GCA515396447ARSLc.1668T>C (p.Pro556=)
c.1743T>C (p.Pro581=)
c.1545T>C (p.Pro515=)
c.1107T>C (p.Pro369=)
n.1448T>C
c.1656T>C (p.Pro552=)
c.1221T>C (p.Pro407=)
c.1506T>C (p.Pro502=)
c.1665T>C (p.Pro555=)
c.1533T>C (p.Pro511=)
c.1695T>C (p.Pro565=)
c.1182T>C (p.Pro394=)
Xg.2934934A>TCA515396448ARSLc.1668T>A (p.Pro556=)
c.1743T>A (p.Pro581=)
c.1545T>A (p.Pro515=)
c.1107T>A (p.Pro369=)
n.1448T>A
c.1656T>A (p.Pro552=)
c.1221T>A (p.Pro407=)
c.1506T>A (p.Pro502=)
c.1665T>A (p.Pro555=)
c.1533T>A (p.Pro511=)
c.1695T>A (p.Pro565=)
c.1182T>A (p.Pro394=)
Xg.2934935G>ACA412275250ARSLc.1667C>T (p.Pro556Leu)
c.1742C>T (p.Pro581Leu)
c.1544C>T (p.Pro515Leu)
c.1106C>T (p.Pro369Leu)
n.1447C>T
c.1655C>T (p.Pro552Leu)
c.1220C>T (p.Pro407Leu)
c.1505C>T (p.Pro502Leu)
c.1664C>T (p.Pro555Leu)
c.1532C>T (p.Pro511Leu)
c.1694C>T (p.Pro565Leu)
c.1181C>T (p.Pro394Leu)
Xg.2934935G>CCA412275251ARSLc.1667C>G (p.Pro556Arg)
c.1742C>G (p.Pro581Arg)
c.1544C>G (p.Pro515Arg)
c.1106C>G (p.Pro369Arg)
n.1447C>G
c.1655C>G (p.Pro552Arg)
c.1220C>G (p.Pro407Arg)
c.1505C>G (p.Pro502Arg)
c.1664C>G (p.Pro555Arg)
c.1532C>G (p.Pro511Arg)
c.1694C>G (p.Pro565Arg)
c.1181C>G (p.Pro394Arg)
Xg.2934935G>TCA412275252ARSLc.1667C>A (p.Pro556His)
c.1742C>A (p.Pro581His)
c.1544C>A (p.Pro515His)
c.1106C>A (p.Pro369His)
n.1447C>A
c.1655C>A (p.Pro552His)
c.1220C>A (p.Pro407His)
c.1505C>A (p.Pro502His)
c.1664C>A (p.Pro555His)
c.1532C>A (p.Pro511His)
c.1694C>A (p.Pro565His)
c.1181C>A (p.Pro394His)
Xg.2934936G>ACA412275253ARSLc.1666C>T (p.Pro556Ser)
c.1741C>T (p.Pro581Ser)
c.1543C>T (p.Pro515Ser)
c.1105C>T (p.Pro369Ser)
n.1446C>T
c.1654C>T (p.Pro552Ser)
c.1219C>T (p.Pro407Ser)
c.1504C>T (p.Pro502Ser)
c.1663C>T (p.Pro555Ser)
c.1531C>T (p.Pro511Ser)
c.1693C>T (p.Pro565Ser)
c.1180C>T (p.Pro394Ser)
 dbSNP
Xg.2934936G>CCA412275254ARSLc.1666C>G (p.Pro556Ala)
c.1741C>G (p.Pro581Ala)
c.1543C>G (p.Pro515Ala)
c.1105C>G (p.Pro369Ala)
n.1446C>G
c.1654C>G (p.Pro552Ala)
c.1219C>G (p.Pro407Ala)
c.1504C>G (p.Pro502Ala)
c.1663C>G (p.Pro555Ala)
c.1531C>G (p.Pro511Ala)
c.1693C>G (p.Pro565Ala)
c.1180C>G (p.Pro394Ala)
Xg.2934936G=CA2412580513ARSLc.1666C= (p.Pro556=)
c.1741C= (p.Pro581=)
c.1543C= (p.Pro515=)
c.1105C= (p.Pro369=)
n.1446C=
c.1654C= (p.Pro552=)
c.1219C= (p.Pro407=)
c.1504C= (p.Pro502=)
c.1663C= (p.Pro555=)
c.1531C= (p.Pro511=)
c.1693C= (p.Pro565=)
c.1180C= (p.Pro394=)
Xg.2934936G>TCA412275255ARSLc.1666C>A (p.Pro556Thr)
c.1741C>A (p.Pro581Thr)
c.1543C>A (p.Pro515Thr)
c.1105C>A (p.Pro369Thr)
n.1446C>A
c.1654C>A (p.Pro552Thr)
c.1219C>A (p.Pro407Thr)
c.1504C>A (p.Pro502Thr)
c.1663C>A (p.Pro555Thr)
c.1531C>A (p.Pro511Thr)
c.1693C>A (p.Pro565Thr)
c.1180C>A (p.Pro394Thr)
Xg.2934937A=CA2412580514ARSLc.1665T= (p.Val555=)
c.1740T= (p.Val580=)
c.1542T= (p.Val514=)
c.1104T= (p.Val368=)
n.1445T=
c.1653T= (p.Val551=)
c.1218T= (p.Val406=)
c.1503T= (p.Val501=)
c.1662T= (p.Val554=)
c.1530T= (p.Val510=)
c.1692T= (p.Val564=)
c.1179T= (p.Val393=)
Xg.2934937A>CCA515396450ARSLc.1665T>G (p.Val555=)
c.1740T>G (p.Val580=)
c.1542T>G (p.Val514=)
c.1104T>G (p.Val368=)
n.1445T>G
c.1653T>G (p.Val551=)
c.1218T>G (p.Val406=)
c.1503T>G (p.Val501=)
c.1662T>G (p.Val554=)
c.1530T>G (p.Val510=)
c.1692T>G (p.Val564=)
c.1179T>G (p.Val393=)
Xg.2934937A>GCA515396452ARSLc.1665T>C (p.Val555=)
c.1740T>C (p.Val580=)
c.1542T>C (p.Val514=)
c.1104T>C (p.Val368=)
n.1445T>C
c.1653T>C (p.Val551=)
c.1218T>C (p.Val406=)
c.1503T>C (p.Val501=)
c.1662T>C (p.Val554=)
c.1530T>C (p.Val510=)
c.1692T>C (p.Val564=)
c.1179T>C (p.Val393=)
 ClinVar dbSNP gnomAD v4
Xg.2934937A>TCA515396453ARSLc.1665T>A (p.Val555=)
c.1740T>A (p.Val580=)
c.1542T>A (p.Val514=)
c.1104T>A (p.Val368=)
n.1445T>A
c.1653T>A (p.Val551=)
c.1218T>A (p.Val406=)
c.1503T>A (p.Val501=)
c.1662T>A (p.Val554=)
c.1530T>A (p.Val510=)
c.1692T>A (p.Val564=)
c.1179T>A (p.Val393=)
Xg.2934938A>CCA412275256ARSLc.1664T>G (p.Val555Gly)
c.1739T>G (p.Val580Gly)
c.1541T>G (p.Val514Gly)
c.1103T>G (p.Val368Gly)
n.1444T>G
c.1652T>G (p.Val551Gly)
c.1217T>G (p.Val406Gly)
c.1502T>G (p.Val501Gly)
c.1661T>G (p.Val554Gly)
c.1529T>G (p.Val510Gly)
c.1691T>G (p.Val564Gly)
c.1178T>G (p.Val393Gly)
 gnomAD v4
Xg.2934938A>GCA412275257ARSLc.1664T>C (p.Val555Ala)
c.1739T>C (p.Val580Ala)
c.1541T>C (p.Val514Ala)
c.1103T>C (p.Val368Ala)
n.1444T>C
c.1652T>C (p.Val551Ala)
c.1217T>C (p.Val406Ala)
c.1502T>C (p.Val501Ala)
c.1661T>C (p.Val554Ala)
c.1529T>C (p.Val510Ala)
c.1691T>C (p.Val564Ala)
c.1178T>C (p.Val393Ala)
Xg.2934938A>TCA412275258ARSLc.1664T>A (p.Val555Asp)
c.1739T>A (p.Val580Asp)
c.1541T>A (p.Val514Asp)
c.1103T>A (p.Val368Asp)
n.1444T>A
c.1652T>A (p.Val551Asp)
c.1217T>A (p.Val406Asp)
c.1502T>A (p.Val501Asp)
c.1661T>A (p.Val554Asp)
c.1529T>A (p.Val510Asp)
c.1691T>A (p.Val564Asp)
c.1178T>A (p.Val393Asp)
Xg.2934939C>ACA412275259ARSLc.1663G>T (p.Val555Phe)
c.1738G>T (p.Val580Phe)
c.1540G>T (p.Val514Phe)
c.1102G>T (p.Val368Phe)
n.1443G>T
c.1651G>T (p.Val551Phe)
c.1216G>T (p.Val406Phe)
c.1501G>T (p.Val501Phe)
c.1660G>T (p.Val554Phe)
c.1528G>T (p.Val510Phe)
c.1690G>T (p.Val564Phe)
c.1177G>T (p.Val393Phe)
Xg.2934939C=CA2412580515ARSLc.1663G= (p.Val555=)
c.1738G= (p.Val580=)
c.1540G= (p.Val514=)
c.1102G= (p.Val368=)
n.1443G=
c.1651G= (p.Val551=)
c.1216G= (p.Val406=)
c.1501G= (p.Val501=)
c.1660G= (p.Val554=)
c.1528G= (p.Val510=)
c.1690G= (p.Val564=)
c.1177G= (p.Val393=)
Xg.2934939C>GCA412275260ARSLc.1663G>C (p.Val555Leu)
c.1738G>C (p.Val580Leu)
c.1540G>C (p.Val514Leu)
c.1102G>C (p.Val368Leu)
n.1443G>C
c.1651G>C (p.Val551Leu)
c.1216G>C (p.Val406Leu)
c.1501G>C (p.Val501Leu)
c.1660G>C (p.Val554Leu)
c.1528G>C (p.Val510Leu)
c.1690G>C (p.Val564Leu)
c.1177G>C (p.Val393Leu)
 dbSNP gnomAD v3 gnomAD v4
Xg.2934939C>TCA412275261ARSLc.1663G>A (p.Val555Ile)
c.1738G>A (p.Val580Ile)
c.1540G>A (p.Val514Ile)
c.1102G>A (p.Val368Ile)
n.1443G>A
c.1651G>A (p.Val551Ile)
c.1216G>A (p.Val406Ile)
c.1501G>A (p.Val501Ile)
c.1660G>A (p.Val554Ile)
c.1528G>A (p.Val510Ile)
c.1690G>A (p.Val564Ile)
c.1177G>A (p.Val393Ile)
 dbSNP gnomAD v4
Xg.2934940T>ACA515396461ARSLc.1662A>T (p.Pro554=)
c.1737A>T (p.Pro579=)
c.1539A>T (p.Pro513=)
c.1101A>T (p.Pro367=)
n.1442A>T
c.1650A>T (p.Pro550=)
c.1215A>T (p.Pro405=)
c.1500A>T (p.Pro500=)
c.1659A>T (p.Pro553=)
c.1527A>T (p.Pro509=)
c.1689A>T (p.Pro563=)
c.1176A>T (p.Pro392=)
 dbSNP gnomAD v4
Xg.2934940T>CCA515396465ARSLc.1662A>G (p.Pro554=)
c.1737A>G (p.Pro579=)
c.1539A>G (p.Pro513=)
c.1101A>G (p.Pro367=)
n.1442A>G
c.1650A>G (p.Pro550=)
c.1215A>G (p.Pro405=)
c.1500A>G (p.Pro500=)
c.1659A>G (p.Pro553=)
c.1527A>G (p.Pro509=)
c.1689A>G (p.Pro563=)
c.1176A>G (p.Pro392=)
Xg.2934940T>GCA515396467ARSLc.1662A>C (p.Pro554=)
c.1737A>C (p.Pro579=)
c.1539A>C (p.Pro513=)
c.1101A>C (p.Pro367=)
n.1442A>C
c.1650A>C (p.Pro550=)
c.1215A>C (p.Pro405=)
c.1500A>C (p.Pro500=)
c.1659A>C (p.Pro553=)
c.1527A>C (p.Pro509=)
c.1689A>C (p.Pro563=)
c.1176A>C (p.Pro392=)
Xg.2934940T=CA2412580516ARSLc.1662A= (p.Pro554=)
c.1737A= (p.Pro579=)
c.1539A= (p.Pro513=)
c.1101A= (p.Pro367=)
n.1442A=
c.1650A= (p.Pro550=)
c.1215A= (p.Pro405=)
c.1500A= (p.Pro500=)
c.1659A= (p.Pro553=)
c.1527A= (p.Pro509=)
c.1689A= (p.Pro563=)
c.1176A= (p.Pro392=)
Xg.2934941G>ACA412275263ARSLc.1661C>T (p.Pro554Leu)
c.1736C>T (p.Pro579Leu)
c.1538C>T (p.Pro513Leu)
c.1100C>T (p.Pro367Leu)
n.1441C>T
c.1649C>T (p.Pro550Leu)
c.1214C>T (p.Pro405Leu)
c.1499C>T (p.Pro500Leu)
c.1658C>T (p.Pro553Leu)
c.1526C>T (p.Pro509Leu)
c.1688C>T (p.Pro563Leu)
c.1175C>T (p.Pro392Leu)
Xg.2934941G>CCA412275264ARSLc.1661C>G (p.Pro554Arg)
c.1736C>G (p.Pro579Arg)
c.1538C>G (p.Pro513Arg)
c.1100C>G (p.Pro367Arg)
n.1441C>G
c.1649C>G (p.Pro550Arg)
c.1214C>G (p.Pro405Arg)
c.1499C>G (p.Pro500Arg)
c.1658C>G (p.Pro553Arg)
c.1526C>G (p.Pro509Arg)
c.1688C>G (p.Pro563Arg)
c.1175C>G (p.Pro392Arg)
Xg.2934941G=CA2412580517ARSLc.1661C= (p.Pro554=)
c.1736C= (p.Pro579=)
c.1538C= (p.Pro513=)
c.1100C= (p.Pro367=)
n.1441C=
c.1649C= (p.Pro550=)
c.1214C= (p.Pro405=)
c.1499C= (p.Pro500=)
c.1658C= (p.Pro553=)
c.1526C= (p.Pro509=)
c.1688C= (p.Pro563=)
c.1175C= (p.Pro392=)
Xg.2934941G>TCA412275262ARSLc.1661C>A (p.Pro554Gln)
c.1736C>A (p.Pro579Gln)
c.1538C>A (p.Pro513Gln)
c.1100C>A (p.Pro367Gln)
n.1441C>A
c.1649C>A (p.Pro550Gln)
c.1214C>A (p.Pro405Gln)
c.1499C>A (p.Pro500Gln)
c.1658C>A (p.Pro553Gln)
c.1526C>A (p.Pro509Gln)
c.1688C>A (p.Pro563Gln)
c.1175C>A (p.Pro392Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.2934942G>ACA412275265ARSLc.1660C>T (p.Pro554Ser)
c.1735C>T (p.Pro579Ser)
c.1537C>T (p.Pro513Ser)
c.1099C>T (p.Pro367Ser)
n.1440C>T
c.1648C>T (p.Pro550Ser)
c.1213C>T (p.Pro405Ser)
c.1498C>T (p.Pro500Ser)
c.1657C>T (p.Pro553Ser)
c.1525C>T (p.Pro509Ser)
c.1687C>T (p.Pro563Ser)
c.1174C>T (p.Pro392Ser)
 dbSNP gnomAD v4
Xg.2934942G>CCA412275266ARSLc.1660C>G (p.Pro554Ala)
c.1735C>G (p.Pro579Ala)
c.1537C>G (p.Pro513Ala)
c.1099C>G (p.Pro367Ala)
n.1440C>G
c.1648C>G (p.Pro550Ala)
c.1213C>G (p.Pro405Ala)
c.1498C>G (p.Pro500Ala)
c.1657C>G (p.Pro553Ala)
c.1525C>G (p.Pro509Ala)
c.1687C>G (p.Pro563Ala)
c.1174C>G (p.Pro392Ala)
 gnomAD v4
Xg.2934942G=CA2412580518ARSLc.1660C= (p.Pro554=)
c.1735C= (p.Pro579=)
c.1537C= (p.Pro513=)
c.1099C= (p.Pro367=)
n.1440C=
c.1648C= (p.Pro550=)
c.1213C= (p.Pro405=)
c.1498C= (p.Pro500=)
c.1657C= (p.Pro553=)
c.1525C= (p.Pro509=)
c.1687C= (p.Pro563=)
c.1174C= (p.Pro392=)
Xg.2934942G>TCA412275267ARSLc.1660C>A (p.Pro554Thr)
c.1735C>A (p.Pro579Thr)
c.1537C>A (p.Pro513Thr)
c.1099C>A (p.Pro367Thr)
n.1440C>A
c.1648C>A (p.Pro550Thr)
c.1213C>A (p.Pro405Thr)
c.1498C>A (p.Pro500Thr)
c.1657C>A (p.Pro553Thr)
c.1525C>A (p.Pro509Thr)
c.1687C>A (p.Pro563Thr)
c.1174C>A (p.Pro392Thr)
Xg.2934943G>ACA515396480ARSLc.1659C>T (p.Ser553=)
c.1734C>T (p.Ser578=)
c.1536C>T (p.Ser512=)
c.1098C>T (p.Ser366=)
n.1439C>T
c.1647C>T (p.Ser549=)
c.1212C>T (p.Ser404=)
c.1497C>T (p.Ser499=)
c.1656C>T (p.Ser552=)
c.1524C>T (p.Ser508=)
c.1686C>T (p.Ser562=)
c.1173C>T (p.Ser391=)
 ClinVar
Xg.2934943G>CCA412275268ARSLc.1659C>G (p.Ser553Arg)
c.1734C>G (p.Ser578Arg)
c.1536C>G (p.Ser512Arg)
c.1098C>G (p.Ser366Arg)
n.1439C>G
c.1647C>G (p.Ser549Arg)
c.1212C>G (p.Ser404Arg)
c.1497C>G (p.Ser499Arg)
c.1656C>G (p.Ser552Arg)
c.1524C>G (p.Ser508Arg)
c.1686C>G (p.Ser562Arg)
c.1173C>G (p.Ser391Arg)
Xg.2934943G=CA2412580519ARSLc.1659C= (p.Ser553=)
c.1734C= (p.Ser578=)
c.1536C= (p.Ser512=)
c.1098C= (p.Ser366=)
n.1439C=
c.1647C= (p.Ser549=)
c.1212C= (p.Ser404=)
c.1497C= (p.Ser499=)
c.1656C= (p.Ser552=)
c.1524C= (p.Ser508=)
c.1686C= (p.Ser562=)
c.1173C= (p.Ser391=)
Xg.2934943G>TCA412275269ARSLc.1659C>A (p.Ser553Arg)
c.1734C>A (p.Ser578Arg)
c.1536C>A (p.Ser512Arg)
c.1098C>A (p.Ser366Arg)
n.1439C>A
c.1647C>A (p.Ser549Arg)
c.1212C>A (p.Ser404Arg)
c.1497C>A (p.Ser499Arg)
c.1656C>A (p.Ser552Arg)
c.1524C>A (p.Ser508Arg)
c.1686C>A (p.Ser562Arg)
c.1173C>A (p.Ser391Arg)
 dbSNP gnomAD v4
Xg.2934944C>ACA412275270ARSLc.1658G>T (p.Ser553Ile)
c.1733G>T (p.Ser578Ile)
c.1535G>T (p.Ser512Ile)
c.1097G>T (p.Ser366Ile)
n.1438G>T
c.1646G>T (p.Ser549Ile)
c.1211G>T (p.Ser404Ile)
c.1496G>T (p.Ser499Ile)
c.1655G>T (p.Ser552Ile)
c.1523G>T (p.Ser508Ile)
c.1685G>T (p.Ser562Ile)
c.1172G>T (p.Ser391Ile)
Xg.2934944C>GCA412275271ARSLc.1658G>C (p.Ser553Thr)
c.1733G>C (p.Ser578Thr)
c.1535G>C (p.Ser512Thr)
c.1097G>C (p.Ser366Thr)
n.1438G>C
c.1646G>C (p.Ser549Thr)
c.1211G>C (p.Ser404Thr)
c.1496G>C (p.Ser499Thr)
c.1655G>C (p.Ser552Thr)
c.1523G>C (p.Ser508Thr)
c.1685G>C (p.Ser562Thr)
c.1172G>C (p.Ser391Thr)
Xg.2934944C>TCA412275272ARSLc.1658G>A (p.Ser553Asn)
c.1733G>A (p.Ser578Asn)
c.1535G>A (p.Ser512Asn)
c.1097G>A (p.Ser366Asn)
n.1438G>A
c.1646G>A (p.Ser549Asn)
c.1211G>A (p.Ser404Asn)
c.1496G>A (p.Ser499Asn)
c.1655G>A (p.Ser552Asn)
c.1523G>A (p.Ser508Asn)
c.1685G>A (p.Ser562Asn)
c.1172G>A (p.Ser391Asn)
Xg.2934945T>ACA412275273ARSLc.1657A>T (p.Ser553Cys)
c.1732A>T (p.Ser578Cys)
c.1534A>T (p.Ser512Cys)
c.1096A>T (p.Ser366Cys)
n.1437A>T
c.1645A>T (p.Ser549Cys)
c.1210A>T (p.Ser404Cys)
c.1495A>T (p.Ser499Cys)
c.1654A>T (p.Ser552Cys)
c.1522A>T (p.Ser508Cys)
c.1684A>T (p.Ser562Cys)
c.1171A>T (p.Ser391Cys)
Xg.2934945T>CCA412275274ARSLc.1657A>G (p.Ser553Gly)
c.1732A>G (p.Ser578Gly)
c.1534A>G (p.Ser512Gly)
c.1096A>G (p.Ser366Gly)
n.1437A>G
c.1645A>G (p.Ser549Gly)
c.1210A>G (p.Ser404Gly)
c.1495A>G (p.Ser499Gly)
c.1654A>G (p.Ser552Gly)
c.1522A>G (p.Ser508Gly)
c.1684A>G (p.Ser562Gly)
c.1171A>G (p.Ser391Gly)
Xg.2934945T>GCA412275275ARSLc.1657A>C (p.Ser553Arg)
c.1732A>C (p.Ser578Arg)
c.1534A>C (p.Ser512Arg)
c.1096A>C (p.Ser366Arg)
n.1437A>C
c.1645A>C (p.Ser549Arg)
c.1210A>C (p.Ser404Arg)
c.1495A>C (p.Ser499Arg)
c.1654A>C (p.Ser552Arg)
c.1522A>C (p.Ser508Arg)
c.1684A>C (p.Ser562Arg)
c.1171A>C (p.Ser391Arg)
 dbSNP gnomAD v2 gnomAD v4
Xg.2934945T=CA2412580520ARSLc.1657A= (p.Ser553=)
c.1732A= (p.Ser578=)
c.1534A= (p.Ser512=)
c.1096A= (p.Ser366=)
n.1437A=
c.1645A= (p.Ser549=)
c.1210A= (p.Ser404=)
c.1495A= (p.Ser499=)
c.1654A= (p.Ser552=)
c.1522A= (p.Ser508=)
c.1684A= (p.Ser562=)
c.1171A= (p.Ser391=)
Xg.2934946G>ACA10337974ARSLc.1656C>T (p.Leu552=)
c.1731C>T (p.Leu577=)
c.1533C>T (p.Leu511=)
c.1095C>T (p.Leu365=)
n.1436C>T
c.1644C>T (p.Leu548=)
c.1209C>T (p.Leu403=)
c.1494C>T (p.Leu498=)
c.1653C>T (p.Leu551=)
c.1521C>T (p.Leu507=)
c.1683C>T (p.Leu561=)
c.1170C>T (p.Leu390=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.2934946G>CCA515396487ARSLc.1656C>G (p.Leu552=)
c.1731C>G (p.Leu577=)
c.1533C>G (p.Leu511=)
c.1095C>G (p.Leu365=)
n.1436C>G
c.1644C>G (p.Leu548=)
c.1209C>G (p.Leu403=)
c.1494C>G (p.Leu498=)
c.1653C>G (p.Leu551=)
c.1521C>G (p.Leu507=)
c.1683C>G (p.Leu561=)
c.1170C>G (p.Leu390=)
Xg.2934946G=CA2412580521ARSLc.1656C= (p.Leu552=)
c.1731C= (p.Leu577=)
c.1533C= (p.Leu511=)
c.1095C= (p.Leu365=)
n.1436C=
c.1644C= (p.Leu548=)
c.1209C= (p.Leu403=)
c.1494C= (p.Leu498=)
c.1653C= (p.Leu551=)
c.1521C= (p.Leu507=)
c.1683C= (p.Leu561=)
c.1170C= (p.Leu390=)
Xg.2934946G>TCA515396488ARSLc.1656C>A (p.Leu552=)
c.1731C>A (p.Leu577=)
c.1533C>A (p.Leu511=)
c.1095C>A (p.Leu365=)
n.1436C>A
c.1644C>A (p.Leu548=)
c.1209C>A (p.Leu403=)
c.1494C>A (p.Leu498=)
c.1653C>A (p.Leu551=)
c.1521C>A (p.Leu507=)
c.1683C>A (p.Leu561=)
c.1170C>A (p.Leu390=)
Xg.2934947A>CCA412275278ARSLc.1655T>G (p.Leu552Arg)
c.1730T>G (p.Leu577Arg)
c.1532T>G (p.Leu511Arg)
c.1094T>G (p.Leu365Arg)
n.1435T>G
c.1643T>G (p.Leu548Arg)
c.1208T>G (p.Leu403Arg)
c.1493T>G (p.Leu498Arg)
c.1652T>G (p.Leu551Arg)
c.1520T>G (p.Leu507Arg)
c.1682T>G (p.Leu561Arg)
c.1169T>G (p.Leu390Arg)
Xg.2934947A>GCA412275276ARSLc.1655T>C (p.Leu552Pro)
c.1730T>C (p.Leu577Pro)
c.1532T>C (p.Leu511Pro)
c.1094T>C (p.Leu365Pro)
n.1435T>C
c.1643T>C (p.Leu548Pro)
c.1208T>C (p.Leu403Pro)
c.1493T>C (p.Leu498Pro)
c.1652T>C (p.Leu551Pro)
c.1520T>C (p.Leu507Pro)
c.1682T>C (p.Leu561Pro)
c.1169T>C (p.Leu390Pro)
Xg.2934947A>TCA412275277ARSLc.1655T>A (p.Leu552His)
c.1730T>A (p.Leu577His)
c.1532T>A (p.Leu511His)
c.1094T>A (p.Leu365His)
n.1435T>A
c.1643T>A (p.Leu548His)
c.1208T>A (p.Leu403His)
c.1493T>A (p.Leu498His)
c.1652T>A (p.Leu551His)
c.1520T>A (p.Leu507His)
c.1682T>A (p.Leu561His)
c.1169T>A (p.Leu390His)
Xg.2934948G>ACA412275279ARSLc.1654C>T (p.Leu552Phe)
c.1729C>T (p.Leu577Phe)
c.1531C>T (p.Leu511Phe)
c.1093C>T (p.Leu365Phe)
n.1434C>T
c.1642C>T (p.Leu548Phe)
c.1207C>T (p.Leu403Phe)
c.1492C>T (p.Leu498Phe)
c.1651C>T (p.Leu551Phe)
c.1519C>T (p.Leu507Phe)
c.1681C>T (p.Leu561Phe)
c.1168C>T (p.Leu390Phe)
Xg.2934948G>CCA412275280ARSLc.1654C>G (p.Leu552Val)
c.1729C>G (p.Leu577Val)
c.1531C>G (p.Leu511Val)
c.1093C>G (p.Leu365Val)
n.1434C>G
c.1642C>G (p.Leu548Val)
c.1207C>G (p.Leu403Val)
c.1492C>G (p.Leu498Val)
c.1651C>G (p.Leu551Val)
c.1519C>G (p.Leu507Val)
c.1681C>G (p.Leu561Val)
c.1168C>G (p.Leu390Val)
Xg.2934948G>TCA412275281ARSLc.1654C>A (p.Leu552Ile)
c.1729C>A (p.Leu577Ile)
c.1531C>A (p.Leu511Ile)
c.1093C>A (p.Leu365Ile)
n.1434C>A
c.1642C>A (p.Leu548Ile)
c.1207C>A (p.Leu403Ile)
c.1492C>A (p.Leu498Ile)
c.1651C>A (p.Leu551Ile)
c.1519C>A (p.Leu507Ile)
c.1681C>A (p.Leu561Ile)
c.1168C>A (p.Leu390Ile)
Xg.2934949T>ACA10337975ARSLc.1653A>T (p.Thr551=)
c.1728A>T (p.Thr576=)
c.1530A>T (p.Thr510=)
c.1092A>T (p.Thr364=)
n.1433A>T
c.1641A>T (p.Thr547=)
c.1206A>T (p.Thr402=)
c.1491A>T (p.Thr497=)
c.1650A>T (p.Thr550=)
c.1518A>T (p.Thr506=)
c.1680A>T (p.Thr560=)
c.1167A>T (p.Thr389=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.2934949T>CCA515396496ARSLc.1653A>G (p.Thr551=)
c.1728A>G (p.Thr576=)
c.1530A>G (p.Thr510=)
c.1092A>G (p.Thr364=)
n.1433A>G
c.1641A>G (p.Thr547=)
c.1206A>G (p.Thr402=)
c.1491A>G (p.Thr497=)
c.1650A>G (p.Thr550=)
c.1518A>G (p.Thr506=)
c.1680A>G (p.Thr560=)
c.1167A>G (p.Thr389=)
Xg.2934949T>GCA515396497ARSLc.1653A>C (p.Thr551=)
c.1728A>C (p.Thr576=)
c.1530A>C (p.Thr510=)
c.1092A>C (p.Thr364=)
n.1433A>C
c.1641A>C (p.Thr547=)
c.1206A>C (p.Thr402=)
c.1491A>C (p.Thr497=)
c.1650A>C (p.Thr550=)
c.1518A>C (p.Thr506=)
c.1680A>C (p.Thr560=)
c.1167A>C (p.Thr389=)
Xg.2934949T=CA2412580522ARSLc.1653A= (p.Thr551=)
c.1728A= (p.Thr576=)
c.1530A= (p.Thr510=)
c.1092A= (p.Thr364=)
n.1433A=
c.1641A= (p.Thr547=)
c.1206A= (p.Thr402=)
c.1491A= (p.Thr497=)
c.1650A= (p.Thr550=)
c.1518A= (p.Thr506=)
c.1680A= (p.Thr560=)
c.1167A= (p.Thr389=)
Xg.2934950G>ACA412275282ARSLc.1652C>T (p.Thr551Ile)
c.1727C>T (p.Thr576Ile)
c.1529C>T (p.Thr510Ile)
c.1091C>T (p.Thr364Ile)
n.1432C>T
c.1640C>T (p.Thr547Ile)
c.1205C>T (p.Thr402Ile)
c.1490C>T (p.Thr497Ile)
c.1649C>T (p.Thr550Ile)
c.1517C>T (p.Thr506Ile)
c.1679C>T (p.Thr560Ile)
c.1166C>T (p.Thr389Ile)
Xg.2934950G>CCA412275283ARSLc.1652C>G (p.Thr551Arg)
c.1727C>G (p.Thr576Arg)
c.1529C>G (p.Thr510Arg)
c.1091C>G (p.Thr364Arg)
n.1432C>G
c.1640C>G (p.Thr547Arg)
c.1205C>G (p.Thr402Arg)
c.1490C>G (p.Thr497Arg)
c.1649C>G (p.Thr550Arg)
c.1517C>G (p.Thr506Arg)
c.1679C>G (p.Thr560Arg)
c.1166C>G (p.Thr389Arg)
Xg.2934950G>TCA412275284ARSLc.1652C>A (p.Thr551Lys)
c.1727C>A (p.Thr576Lys)
c.1529C>A (p.Thr510Lys)
c.1091C>A (p.Thr364Lys)
n.1432C>A
c.1640C>A (p.Thr547Lys)
c.1205C>A (p.Thr402Lys)
c.1490C>A (p.Thr497Lys)
c.1649C>A (p.Thr550Lys)
c.1517C>A (p.Thr506Lys)
c.1679C>A (p.Thr560Lys)
c.1166C>A (p.Thr389Lys)
Xg.2934951T>ACA412275285ARSLc.1651A>T (p.Thr551Ser)
c.1726A>T (p.Thr576Ser)
c.1528A>T (p.Thr510Ser)
c.1090A>T (p.Thr364Ser)
n.1431A>T
c.1639A>T (p.Thr547Ser)
c.1204A>T (p.Thr402Ser)
c.1489A>T (p.Thr497Ser)
c.1648A>T (p.Thr550Ser)
c.1516A>T (p.Thr506Ser)
c.1678A>T (p.Thr560Ser)
c.1165A>T (p.Thr389Ser)
Xg.2934951T>CCA10337976ARSLc.1651A>G (p.Thr551Ala)
c.1726A>G (p.Thr576Ala)
c.1528A>G (p.Thr510Ala)
c.1090A>G (p.Thr364Ala)
n.1431A>G
c.1639A>G (p.Thr547Ala)
c.1204A>G (p.Thr402Ala)
c.1489A>G (p.Thr497Ala)
c.1648A>G (p.Thr550Ala)
c.1516A>G (p.Thr506Ala)
c.1678A>G (p.Thr560Ala)
c.1165A>G (p.Thr389Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.2934951T>GCA412275286ARSLc.1651A>C (p.Thr551Pro)
c.1726A>C (p.Thr576Pro)
c.1528A>C (p.Thr510Pro)
c.1090A>C (p.Thr364Pro)
n.1431A>C
c.1639A>C (p.Thr547Pro)
c.1204A>C (p.Thr402Pro)
c.1489A>C (p.Thr497Pro)
c.1648A>C (p.Thr550Pro)
c.1516A>C (p.Thr506Pro)
c.1678A>C (p.Thr560Pro)
c.1165A>C (p.Thr389Pro)
Xg.2934951T=CA2412580523ARSLc.1651A= (p.Thr551=)
c.1726A= (p.Thr576=)
c.1528A= (p.Thr510=)
c.1090A= (p.Thr364=)
n.1431A=
c.1639A= (p.Thr547=)
c.1204A= (p.Thr402=)
c.1489A= (p.Thr497=)
c.1648A= (p.Thr550=)
c.1516A= (p.Thr506=)
c.1678A= (p.Thr560=)
c.1165A= (p.Thr389=)
Xg.2934952C>ACA515396503ARSLc.1650G>T (p.Arg550=)
c.1725G>T (p.Arg575=)
c.1527G>T (p.Arg509=)
c.1089G>T (p.Arg363=)
n.1430G>T
c.1638G>T (p.Arg546=)
c.1203G>T (p.Arg401=)
c.1488G>T (p.Arg496=)
c.1647G>T (p.Arg549=)
c.1515G>T (p.Arg505=)
c.1677G>T (p.Arg559=)
c.1164G>T (p.Arg388=)
Xg.2934952C>GCA515396502ARSLc.1650G>C (p.Arg550=)
c.1725G>C (p.Arg575=)
c.1527G>C (p.Arg509=)
c.1089G>C (p.Arg363=)
n.1430G>C
c.1638G>C (p.Arg546=)
c.1203G>C (p.Arg401=)
c.1488G>C (p.Arg496=)
c.1647G>C (p.Arg549=)
c.1515G>C (p.Arg505=)
c.1677G>C (p.Arg559=)
c.1164G>C (p.Arg388=)
Xg.2934952C>TCA515396500ARSLc.1650G>A (p.Arg550=)
c.1725G>A (p.Arg575=)
c.1527G>A (p.Arg509=)
c.1089G>A (p.Arg363=)
n.1430G>A
c.1638G>A (p.Arg546=)
c.1203G>A (p.Arg401=)
c.1488G>A (p.Arg496=)
c.1647G>A (p.Arg549=)
c.1515G>A (p.Arg505=)
c.1677G>A (p.Arg559=)
c.1164G>A (p.Arg388=)
 gnomAD v4
Xg.2934953C>ACA412275287ARSLc.1649G>T (p.Arg550Leu)
c.1724G>T (p.Arg575Leu)
c.1526G>T (p.Arg509Leu)
c.1088G>T (p.Arg363Leu)
n.1429G>T
c.1637G>T (p.Arg546Leu)
c.1202G>T (p.Arg401Leu)
c.1487G>T (p.Arg496Leu)
c.1646G>T (p.Arg549Leu)
c.1514G>T (p.Arg505Leu)
c.1676G>T (p.Arg559Leu)
c.1163G>T (p.Arg388Leu)
 gnomAD v4
Xg.2934953C=CA2412580524ARSLc.1649G= (p.Arg550=)
c.1724G= (p.Arg575=)
c.1526G= (p.Arg509=)
c.1088G= (p.Arg363=)
n.1429G=
c.1637G= (p.Arg546=)
c.1202G= (p.Arg401=)
c.1487G= (p.Arg496=)
c.1646G= (p.Arg549=)
c.1514G= (p.Arg505=)
c.1676G= (p.Arg559=)
c.1163G= (p.Arg388=)
Xg.2934953C>GCA412275288ARSLc.1649G>C (p.Arg550Pro)
c.1724G>C (p.Arg575Pro)
c.1526G>C (p.Arg509Pro)
c.1088G>C (p.Arg363Pro)
n.1429G>C
c.1637G>C (p.Arg546Pro)
c.1202G>C (p.Arg401Pro)
c.1487G>C (p.Arg496Pro)
c.1646G>C (p.Arg549Pro)
c.1514G>C (p.Arg505Pro)
c.1676G>C (p.Arg559Pro)
c.1163G>C (p.Arg388Pro)
Xg.2934953C>TCA412275289ARSLc.1649G>A (p.Arg550Gln)
c.1724G>A (p.Arg575Gln)
c.1526G>A (p.Arg509Gln)
c.1088G>A (p.Arg363Gln)
n.1429G>A
c.1637G>A (p.Arg546Gln)
c.1202G>A (p.Arg401Gln)
c.1487G>A (p.Arg496Gln)
c.1646G>A (p.Arg549Gln)
c.1514G>A (p.Arg505Gln)
c.1676G>A (p.Arg559Gln)
c.1163G>A (p.Arg388Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.2934954G>ACA412275291ARSLc.1648C>T (p.Arg550Trp)
c.1723C>T (p.Arg575Trp)
c.1525C>T (p.Arg509Trp)
c.1087C>T (p.Arg363Trp)
n.1428C>T
c.1636C>T (p.Arg546Trp)
c.1201C>T (p.Arg401Trp)
c.1486C>T (p.Arg496Trp)
c.1645C>T (p.Arg549Trp)
c.1513C>T (p.Arg505Trp)
c.1675C>T (p.Arg559Trp)
c.1162C>T (p.Arg388Trp)
 gnomAD v4
Xg.2934954G>CCA412275290ARSLc.1648C>G (p.Arg550Gly)
c.1723C>G (p.Arg575Gly)
c.1525C>G (p.Arg509Gly)
c.1087C>G (p.Arg363Gly)
n.1428C>G
c.1636C>G (p.Arg546Gly)
c.1201C>G (p.Arg401Gly)
c.1486C>G (p.Arg496Gly)
c.1645C>G (p.Arg549Gly)
c.1513C>G (p.Arg505Gly)
c.1675C>G (p.Arg559Gly)
c.1162C>G (p.Arg388Gly)
Xg.2934954G>TCA515396504ARSLc.1648C>A (p.Arg550=)
c.1723C>A (p.Arg575=)
c.1525C>A (p.Arg509=)
c.1087C>A (p.Arg363=)
n.1428C>A
c.1636C>A (p.Arg546=)
c.1201C>A (p.Arg401=)
c.1486C>A (p.Arg496=)
c.1645C>A (p.Arg549=)
c.1513C>A (p.Arg505=)
c.1675C>A (p.Arg559=)
c.1162C>A (p.Arg388=)
Xg.2934955C>ACA412275292ARSLc.1647G>T (p.Gln549His)
c.1722G>T (p.Gln574His)
c.1524G>T (p.Gln508His)
c.1086G>T (p.Gln362His)
n.1427G>T
c.1635G>T (p.Gln545His)
c.1200G>T (p.Gln400His)
c.1485G>T (p.Gln495His)
c.1644G>T (p.Gln548His)
c.1512G>T (p.Gln504His)
c.1674G>T (p.Gln558His)
c.1161G>T (p.Gln387His)
Xg.2934955C>GCA412275293ARSLc.1647G>C (p.Gln549His)
c.1722G>C (p.Gln574His)
c.1524G>C (p.Gln508His)
c.1086G>C (p.Gln362His)
n.1427G>C
c.1635G>C (p.Gln545His)
c.1200G>C (p.Gln400His)
c.1485G>C (p.Gln495His)
c.1644G>C (p.Gln548His)
c.1512G>C (p.Gln504His)
c.1674G>C (p.Gln558His)
c.1161G>C (p.Gln387His)
Xg.2934955C>TCA515396506ARSLc.1647G>A (p.Gln549=)
c.1722G>A (p.Gln574=)
c.1524G>A (p.Gln508=)
c.1086G>A (p.Gln362=)
n.1427G>A
c.1635G>A (p.Gln545=)
c.1200G>A (p.Gln400=)
c.1485G>A (p.Gln495=)
c.1644G>A (p.Gln548=)
c.1512G>A (p.Gln504=)
c.1674G>A (p.Gln558=)
c.1161G>A (p.Gln387=)
 COSMIC COSMIC
Xg.2934956T>ACA412275294ARSLc.1646A>T (p.Gln549Leu)
c.1721A>T (p.Gln574Leu)
c.1523A>T (p.Gln508Leu)
c.1085A>T (p.Gln362Leu)
n.1426A>T
c.1634A>T (p.Gln545Leu)
c.1199A>T (p.Gln400Leu)
c.1484A>T (p.Gln495Leu)
c.1643A>T (p.Gln548Leu)
c.1511A>T (p.Gln504Leu)
c.1673A>T (p.Gln558Leu)
c.1160A>T (p.Gln387Leu)
Xg.2934956T>CCA412275296ARSLc.1646A>G (p.Gln549Arg)
c.1721A>G (p.Gln574Arg)
c.1523A>G (p.Gln508Arg)
c.1085A>G (p.Gln362Arg)
n.1426A>G
c.1634A>G (p.Gln545Arg)
c.1199A>G (p.Gln400Arg)
c.1484A>G (p.Gln495Arg)
c.1643A>G (p.Gln548Arg)
c.1511A>G (p.Gln504Arg)
c.1673A>G (p.Gln558Arg)
c.1160A>G (p.Gln387Arg)
 dbSNP gnomAD v4
Xg.2934956T>GCA412275295ARSLc.1646A>C (p.Gln549Pro)
c.1721A>C (p.Gln574Pro)
c.1523A>C (p.Gln508Pro)
c.1085A>C (p.Gln362Pro)
n.1426A>C
c.1634A>C (p.Gln545Pro)
c.1199A>C (p.Gln400Pro)
c.1484A>C (p.Gln495Pro)
c.1643A>C (p.Gln548Pro)
c.1511A>C (p.Gln504Pro)
c.1673A>C (p.Gln558Pro)
c.1160A>C (p.Gln387Pro)
Xg.2934956T=CA2412580525ARSLc.1646A= (p.Gln549=)
c.1721A= (p.Gln574=)
c.1523A= (p.Gln508=)
c.1085A= (p.Gln362=)
n.1426A=
c.1634A= (p.Gln545=)
c.1199A= (p.Gln400=)
c.1484A= (p.Gln495=)
c.1643A= (p.Gln548=)
c.1511A= (p.Gln504=)
c.1673A= (p.Gln558=)
c.1160A= (p.Gln387=)
Xg.2934957G>ACA412275297ARSLc.1645C>T (p.Gln549Ter)
c.1720C>T (p.Gln574Ter)
c.1522C>T (p.Gln508Ter)
c.1084C>T (p.Gln362Ter)
n.1425C>T
c.1633C>T (p.Gln545Ter)
c.1198C>T (p.Gln400Ter)
c.1483C>T (p.Gln495Ter)
c.1642C>T (p.Gln548Ter)
c.1510C>T (p.Gln504Ter)
c.1672C>T (p.Gln558Ter)
c.1159C>T (p.Gln387Ter)
Xg.2934957G>CCA412275298ARSLc.1645C>G (p.Gln549Glu)
c.1720C>G (p.Gln574Glu)
c.1522C>G (p.Gln508Glu)
c.1084C>G (p.Gln362Glu)
n.1425C>G
c.1633C>G (p.Gln545Glu)
c.1198C>G (p.Gln400Glu)
c.1483C>G (p.Gln495Glu)
c.1642C>G (p.Gln548Glu)
c.1510C>G (p.Gln504Glu)
c.1672C>G (p.Gln558Glu)
c.1159C>G (p.Gln387Glu)
Xg.2934957G>TCA412275299ARSLc.1645C>A (p.Gln549Lys)
c.1720C>A (p.Gln574Lys)
c.1522C>A (p.Gln508Lys)
c.1084C>A (p.Gln362Lys)
n.1425C>A
c.1633C>A (p.Gln545Lys)
c.1198C>A (p.Gln400Lys)
c.1483C>A (p.Gln495Lys)
c.1642C>A (p.Gln548Lys)
c.1510C>A (p.Gln504Lys)
c.1672C>A (p.Gln558Lys)
c.1159C>A (p.Gln387Lys)
Xg.2934958G>ACA515396510ARSLc.1644C>T (p.His548=)
c.1719C>T (p.His573=)
c.1521C>T (p.His507=)
c.1083C>T (p.His361=)
n.1424C>T
c.1632C>T (p.His544=)
c.1197C>T (p.His399=)
c.1482C>T (p.His494=)
c.1641C>T (p.His547=)
c.1509C>T (p.His503=)
c.1671C>T (p.His557=)
c.1158C>T (p.His386=)
Xg.2934958G>CCA412275300ARSLc.1644C>G (p.His548Gln)
c.1719C>G (p.His573Gln)
c.1521C>G (p.His507Gln)
c.1083C>G (p.His361Gln)
n.1424C>G
c.1632C>G (p.His544Gln)
c.1197C>G (p.His399Gln)
c.1482C>G (p.His494Gln)
c.1641C>G (p.His547Gln)
c.1509C>G (p.His503Gln)
c.1671C>G (p.His557Gln)
c.1158C>G (p.His386Gln)
Xg.2934958G>TCA412275301ARSLc.1644C>A (p.His548Gln)
c.1719C>A (p.His573Gln)
c.1521C>A (p.His507Gln)
c.1083C>A (p.His361Gln)
n.1424C>A
c.1632C>A (p.His544Gln)
c.1197C>A (p.His399Gln)
c.1482C>A (p.His494Gln)
c.1641C>A (p.His547Gln)
c.1509C>A (p.His503Gln)
c.1671C>A (p.His557Gln)
c.1158C>A (p.His386Gln)
Xg.2934959T>ACA412275302ARSLc.1643A>T (p.His548Leu)
c.1718A>T (p.His573Leu)
c.1520A>T (p.His507Leu)
c.1082A>T (p.His361Leu)
n.1423A>T
c.1631A>T (p.His544Leu)
c.1196A>T (p.His399Leu)
c.1481A>T (p.His494Leu)
c.1640A>T (p.His547Leu)
c.1508A>T (p.His503Leu)
c.1670A>T (p.His557Leu)
c.1157A>T (p.His386Leu)
 ClinVar dbSNP gnomAD v4
Xg.2934959T>CCA412275303ARSLc.1643A>G (p.His548Arg)
c.1718A>G (p.His573Arg)
c.1520A>G (p.His507Arg)
c.1082A>G (p.His361Arg)
n.1423A>G
c.1631A>G (p.His544Arg)
c.1196A>G (p.His399Arg)
c.1481A>G (p.His494Arg)
c.1640A>G (p.His547Arg)
c.1508A>G (p.His503Arg)
c.1670A>G (p.His557Arg)
c.1157A>G (p.His386Arg)
Xg.2934959T>GCA412275304ARSLc.1643A>C (p.His548Pro)
c.1718A>C (p.His573Pro)
c.1520A>C (p.His507Pro)
c.1082A>C (p.His361Pro)
n.1423A>C
c.1631A>C (p.His544Pro)
c.1196A>C (p.His399Pro)
c.1481A>C (p.His494Pro)
c.1640A>C (p.His547Pro)
c.1508A>C (p.His503Pro)
c.1670A>C (p.His557Pro)
c.1157A>C (p.His386Pro)
Xg.2934960G>ACA412275305ARSLc.1642C>T (p.His548Tyr)
c.1717C>T (p.His573Tyr)
c.1519C>T (p.His507Tyr)
c.1081C>T (p.His361Tyr)
n.1422C>T
c.1630C>T (p.His544Tyr)
c.1195C>T (p.His399Tyr)
c.1480C>T (p.His494Tyr)
c.1639C>T (p.His547Tyr)
c.1507C>T (p.His503Tyr)
c.1669C>T (p.His557Tyr)
c.1156C>T (p.His386Tyr)
Xg.2934960G>CCA412275306ARSLc.1642C>G (p.His548Asp)
c.1717C>G (p.His573Asp)
c.1519C>G (p.His507Asp)
c.1081C>G (p.His361Asp)
n.1422C>G
c.1630C>G (p.His544Asp)
c.1195C>G (p.His399Asp)
c.1480C>G (p.His494Asp)
c.1639C>G (p.His547Asp)
c.1507C>G (p.His503Asp)
c.1669C>G (p.His557Asp)
c.1156C>G (p.His386Asp)
Xg.2934960G>TCA412275307ARSLc.1642C>A (p.His548Asn)
c.1717C>A (p.His573Asn)
c.1519C>A (p.His507Asn)
c.1081C>A (p.His361Asn)
n.1422C>A
c.1630C>A (p.His544Asn)
c.1195C>A (p.His399Asn)
c.1480C>A (p.His494Asn)
c.1639C>A (p.His547Asn)
c.1507C>A (p.His503Asn)
c.1669C>A (p.His557Asn)
c.1156C>A (p.His386Asn)
Xg.2934961T>ACA412275308ARSLc.1641A>T (p.Glu547Asp)
c.1716A>T (p.Glu572Asp)
c.1518A>T (p.Glu506Asp)
c.1080A>T (p.Glu360Asp)
n.1421A>T
c.1629A>T (p.Glu543Asp)
c.1194A>T (p.Glu398Asp)
c.1479A>T (p.Glu493Asp)
c.1638A>T (p.Glu546Asp)
c.1506A>T (p.Glu502Asp)
c.1668A>T (p.Glu556Asp)
c.1155A>T (p.Glu385Asp)
Xg.2934961T>CCA515396516ARSLc.1641A>G (p.Glu547=)
c.1716A>G (p.Glu572=)
c.1518A>G (p.Glu506=)
c.1080A>G (p.Glu360=)
n.1421A>G
c.1629A>G (p.Glu543=)
c.1194A>G (p.Glu398=)
c.1479A>G (p.Glu493=)
c.1638A>G (p.Glu546=)
c.1506A>G (p.Glu502=)
c.1668A>G (p.Glu556=)
c.1155A>G (p.Glu385=)
Xg.2934961T>GCA412275309ARSLc.1641A>C (p.Glu547Asp)
c.1716A>C (p.Glu572Asp)
c.1518A>C (p.Glu506Asp)
c.1080A>C (p.Glu360Asp)
n.1421A>C
c.1629A>C (p.Glu543Asp)
c.1194A>C (p.Glu398Asp)
c.1479A>C (p.Glu493Asp)
c.1638A>C (p.Glu546Asp)
c.1506A>C (p.Glu502Asp)
c.1668A>C (p.Glu556Asp)
c.1155A>C (p.Glu385Asp)
Xg.2934962T>ACA412275310ARSLc.1640A>T (p.Glu547Val)
c.1715A>T (p.Glu572Val)
c.1517A>T (p.Glu506Val)
c.1079A>T (p.Glu360Val)
n.1420A>T
c.1628A>T (p.Glu543Val)
c.1193A>T (p.Glu398Val)
c.1478A>T (p.Glu493Val)
c.1637A>T (p.Glu546Val)
c.1505A>T (p.Glu502Val)
c.1667A>T (p.Glu556Val)
c.1154A>T (p.Glu385Val)
Xg.2934962T>CCA412275313ARSLc.1640A>G (p.Glu547Gly)
c.1715A>G (p.Glu572Gly)
c.1517A>G (p.Glu506Gly)
c.1079A>G (p.Glu360Gly)
n.1420A>G
c.1628A>G (p.Glu543Gly)
c.1193A>G (p.Glu398Gly)
c.1478A>G (p.Glu493Gly)
c.1637A>G (p.Glu546Gly)
c.1505A>G (p.Glu502Gly)
c.1667A>G (p.Glu556Gly)
c.1154A>G (p.Glu385Gly)
Xg.2934962T>GCA412275311ARSLc.1640A>C (p.Glu547Ala)
c.1715A>C (p.Glu572Ala)
c.1517A>C (p.Glu506Ala)
c.1079A>C (p.Glu360Ala)
n.1420A>C
c.1628A>C (p.Glu543Ala)
c.1193A>C (p.Glu398Ala)
c.1478A>C (p.Glu493Ala)
c.1637A>C (p.Glu546Ala)
c.1505A>C (p.Glu502Ala)
c.1667A>C (p.Glu556Ala)
c.1154A>C (p.Glu385Ala)
Xg.2934963C>ACA412275314ARSLc.1639G>T (p.Glu547Ter)
c.1714G>T (p.Glu572Ter)
c.1516G>T (p.Glu506Ter)
c.1078G>T (p.Glu360Ter)
n.1419G>T
c.1627G>T (p.Glu543Ter)
c.1192G>T (p.Glu398Ter)
c.1477G>T (p.Glu493Ter)
c.1636G>T (p.Glu546Ter)
c.1504G>T (p.Glu502Ter)
c.1666G>T (p.Glu556Ter)
c.1153G>T (p.Glu385Ter)
Xg.2934963C>GCA412275315ARSLc.1639G>C (p.Glu547Gln)
c.1714G>C (p.Glu572Gln)
c.1516G>C (p.Glu506Gln)
c.1078G>C (p.Glu360Gln)
n.1419G>C
c.1627G>C (p.Glu543Gln)
c.1192G>C (p.Glu398Gln)
c.1477G>C (p.Glu493Gln)
c.1636G>C (p.Glu546Gln)
c.1504G>C (p.Glu502Gln)
c.1666G>C (p.Glu556Gln)
c.1153G>C (p.Glu385Gln)
Xg.2934963C>TCA412275316ARSLc.1639G>A (p.Glu547Lys)
c.1714G>A (p.Glu572Lys)
c.1516G>A (p.Glu506Lys)
c.1078G>A (p.Glu360Lys)
n.1419G>A
c.1627G>A (p.Glu543Lys)
c.1192G>A (p.Glu398Lys)
c.1477G>A (p.Glu493Lys)
c.1636G>A (p.Glu546Lys)
c.1504G>A (p.Glu502Lys)
c.1666G>A (p.Glu556Lys)
c.1153G>A (p.Glu385Lys)
Xg.2934964C>ACA412275317ARSLc.1638G>T (p.Trp546Cys)
c.1713G>T (p.Trp571Cys)
c.1515G>T (p.Trp505Cys)
c.1077G>T (p.Trp359Cys)
n.1418G>T
c.1626G>T (p.Trp542Cys)
c.1191G>T (p.Trp397Cys)
c.1476G>T (p.Trp492Cys)
c.1635G>T (p.Trp545Cys)
c.1503G>T (p.Trp501Cys)
c.1665G>T (p.Trp555Cys)
c.1152G>T (p.Trp384Cys)
Xg.2934964C=CA2412580526ARSLc.1638G= (p.Trp546=)
c.1713G= (p.Trp571=)
c.1515G= (p.Trp505=)
c.1077G= (p.Trp359=)
n.1418G=
c.1626G= (p.Trp542=)
c.1191G= (p.Trp397=)
c.1476G= (p.Trp492=)
c.1635G= (p.Trp545=)
c.1503G= (p.Trp501=)
c.1665G= (p.Trp555=)
c.1152G= (p.Trp384=)
Xg.2934964C>GCA412275318ARSLc.1638G>C (p.Trp546Cys)
c.1713G>C (p.Trp571Cys)
c.1515G>C (p.Trp505Cys)
c.1077G>C (p.Trp359Cys)
n.1418G>C
c.1626G>C (p.Trp542Cys)
c.1191G>C (p.Trp397Cys)
c.1476G>C (p.Trp492Cys)
c.1635G>C (p.Trp545Cys)
c.1503G>C (p.Trp501Cys)
c.1665G>C (p.Trp555Cys)
c.1152G>C (p.Trp384Cys)
Xg.2934964C>TCA412275319ARSLc.1638G>A (p.Trp546Ter)
c.1713G>A (p.Trp571Ter)
c.1515G>A (p.Trp505Ter)
c.1077G>A (p.Trp359Ter)
n.1418G>A
c.1626G>A (p.Trp542Ter)
c.1191G>A (p.Trp397Ter)
c.1476G>A (p.Trp492Ter)
c.1635G>A (p.Trp545Ter)
c.1503G>A (p.Trp501Ter)
c.1665G>A (p.Trp555Ter)
c.1152G>A (p.Trp384Ter)
 dbSNP
Xg.2934965C>ACA412275320ARSLc.1637G>T (p.Trp546Leu)
c.1712G>T (p.Trp571Leu)
c.1514G>T (p.Trp505Leu)
c.1076G>T (p.Trp359Leu)
n.1417G>T
c.1625G>T (p.Trp542Leu)
c.1190G>T (p.Trp397Leu)
c.1475G>T (p.Trp492Leu)
c.1634G>T (p.Trp545Leu)
c.1502G>T (p.Trp501Leu)
c.1664G>T (p.Trp555Leu)
c.1151G>T (p.Trp384Leu)
Xg.2934965C>GCA412275321ARSLc.1637G>C (p.Trp546Ser)
c.1712G>C (p.Trp571Ser)
c.1514G>C (p.Trp505Ser)
c.1076G>C (p.Trp359Ser)
n.1417G>C
c.1625G>C (p.Trp542Ser)
c.1190G>C (p.Trp397Ser)
c.1475G>C (p.Trp492Ser)
c.1634G>C (p.Trp545Ser)
c.1502G>C (p.Trp501Ser)
c.1664G>C (p.Trp555Ser)
c.1151G>C (p.Trp384Ser)
Xg.2934965C>TCA412275322ARSLc.1637G>A (p.Trp546Ter)
c.1712G>A (p.Trp571Ter)
c.1514G>A (p.Trp505Ter)
c.1076G>A (p.Trp359Ter)
n.1417G>A
c.1625G>A (p.Trp542Ter)
c.1190G>A (p.Trp397Ter)
c.1475G>A (p.Trp492Ter)
c.1634G>A (p.Trp545Ter)
c.1502G>A (p.Trp501Ter)
c.1664G>A (p.Trp555Ter)
c.1151G>A (p.Trp384Ter)
Xg.2934966A>CCA412275325ARSLc.1636T>G (p.Trp546Gly)
c.1711T>G (p.Trp571Gly)
c.1513T>G (p.Trp505Gly)
c.1075T>G (p.Trp359Gly)
n.1416T>G
c.1624T>G (p.Trp542Gly)
c.1189T>G (p.Trp397Gly)
c.1474T>G (p.Trp492Gly)
c.1633T>G (p.Trp545Gly)
c.1501T>G (p.Trp501Gly)
c.1663T>G (p.Trp555Gly)
c.1150T>G (p.Trp384Gly)
Xg.2934966A>GCA412275324ARSLc.1636T>C (p.Trp546Arg)
c.1711T>C (p.Trp571Arg)
c.1513T>C (p.Trp505Arg)
c.1075T>C (p.Trp359Arg)
n.1416T>C
c.1624T>C (p.Trp542Arg)
c.1189T>C (p.Trp397Arg)
c.1474T>C (p.Trp492Arg)
c.1633T>C (p.Trp545Arg)
c.1501T>C (p.Trp501Arg)
c.1663T>C (p.Trp555Arg)
c.1150T>C (p.Trp384Arg)
Xg.2934966A>TCA412275323ARSLc.1636T>A (p.Trp546Arg)
c.1711T>A (p.Trp571Arg)
c.1513T>A (p.Trp505Arg)
c.1075T>A (p.Trp359Arg)
n.1416T>A
c.1624T>A (p.Trp542Arg)
c.1189T>A (p.Trp397Arg)
c.1474T>A (p.Trp492Arg)
c.1633T>A (p.Trp545Arg)
c.1501T>A (p.Trp501Arg)
c.1663T>A (p.Trp555Arg)
c.1150T>A (p.Trp384Arg)
Xg.2934967C>ACA515396524ARSLc.1635G>T (p.Val545=)
c.1710G>T (p.Val570=)
c.1512G>T (p.Val504=)
c.1074G>T (p.Val358=)
n.1415G>T
c.1623G>T (p.Val541=)
c.1188G>T (p.Val396=)
c.1473G>T (p.Val491=)
c.1632G>T (p.Val544=)
c.1500G>T (p.Val500=)
c.1662G>T (p.Val554=)
c.1149G>T (p.Val383=)
Xg.2934967C>GCA515396526ARSLc.1635G>C (p.Val545=)
c.1710G>C (p.Val570=)
c.1512G>C (p.Val504=)
c.1074G>C (p.Val358=)
n.1415G>C
c.1623G>C (p.Val541=)
c.1188G>C (p.Val396=)
c.1473G>C (p.Val491=)
c.1632G>C (p.Val544=)
c.1500G>C (p.Val500=)
c.1662G>C (p.Val554=)
c.1149G>C (p.Val383=)
Xg.2934967C>TCA515396529ARSLc.1635G>A (p.Val545=)
c.1710G>A (p.Val570=)
c.1512G>A (p.Val504=)
c.1074G>A (p.Val358=)
n.1415G>A
c.1623G>A (p.Val541=)
c.1188G>A (p.Val396=)
c.1473G>A (p.Val491=)
c.1632G>A (p.Val544=)
c.1500G>A (p.Val500=)
c.1662G>A (p.Val554=)
c.1149G>A (p.Val383=)
 ClinVar gnomAD v4
Xg.2934968A>CCA412275326ARSLc.1634T>G (p.Val545Gly)
c.1709T>G (p.Val570Gly)
c.1511T>G (p.Val504Gly)
c.1073T>G (p.Val358Gly)
n.1414T>G
c.1622T>G (p.Val541Gly)
c.1187T>G (p.Val396Gly)
c.1472T>G (p.Val491Gly)
c.1631T>G (p.Val544Gly)
c.1499T>G (p.Val500Gly)
c.1661T>G (p.Val554Gly)
c.1148T>G (p.Val383Gly)
Xg.2934968A>GCA412275327ARSLc.1634T>C (p.Val545Ala)
c.1709T>C (p.Val570Ala)
c.1511T>C (p.Val504Ala)
c.1073T>C (p.Val358Ala)
n.1414T>C
c.1622T>C (p.Val541Ala)
c.1187T>C (p.Val396Ala)
c.1472T>C (p.Val491Ala)
c.1631T>C (p.Val544Ala)
c.1499T>C (p.Val500Ala)
c.1661T>C (p.Val554Ala)
c.1148T>C (p.Val383Ala)
Xg.2934968A>TCA412275328ARSLc.1634T>A (p.Val545Glu)
c.1709T>A (p.Val570Glu)
c.1511T>A (p.Val504Glu)
c.1073T>A (p.Val358Glu)
n.1414T>A
c.1622T>A (p.Val541Glu)
c.1187T>A (p.Val396Glu)
c.1472T>A (p.Val491Glu)
c.1631T>A (p.Val544Glu)
c.1499T>A (p.Val500Glu)
c.1661T>A (p.Val554Glu)
c.1148T>A (p.Val383Glu)
Xg.2934969C>ACA412275329ARSLc.1633G>T (p.Val545Leu)
c.1708G>T (p.Val570Leu)
c.1510G>T (p.Val504Leu)
c.1072G>T (p.Val358Leu)
n.1413G>T
c.1621G>T (p.Val541Leu)
c.1186G>T (p.Val396Leu)
c.1471G>T (p.Val491Leu)
c.1630G>T (p.Val544Leu)
c.1498G>T (p.Val500Leu)
c.1660G>T (p.Val554Leu)
c.1147G>T (p.Val383Leu)
Xg.2934969C=CA2412580527ARSLc.1633G= (p.Val545=)
c.1708G= (p.Val570=)
c.1510G= (p.Val504=)
c.1072G= (p.Val358=)
n.1413G=
c.1621G= (p.Val541=)
c.1186G= (p.Val396=)
c.1471G= (p.Val491=)
c.1630G= (p.Val544=)
c.1498G= (p.Val500=)
c.1660G= (p.Val554=)
c.1147G= (p.Val383=)
Xg.2934969C>GCA412275330ARSLc.1633G>C (p.Val545Leu)
c.1708G>C (p.Val570Leu)
c.1510G>C (p.Val504Leu)
c.1072G>C (p.Val358Leu)
n.1413G>C
c.1621G>C (p.Val541Leu)
c.1186G>C (p.Val396Leu)
c.1471G>C (p.Val491Leu)
c.1630G>C (p.Val544Leu)
c.1498G>C (p.Val500Leu)
c.1660G>C (p.Val554Leu)
c.1147G>C (p.Val383Leu)
Xg.2934969C>TCA10337977ARSLc.1633G>A (p.Val545Met)
c.1708G>A (p.Val570Met)
c.1510G>A (p.Val504Met)
c.1072G>A (p.Val358Met)
n.1413G>A
c.1621G>A (p.Val541Met)
c.1186G>A (p.Val396Met)
c.1471G>A (p.Val491Met)
c.1630G>A (p.Val544Met)
c.1498G>A (p.Val500Met)
c.1660G>A (p.Val554Met)
c.1147G>A (p.Val383Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
Xg.2934970C>ACA515396534ARSLc.1632G>T (p.Ala544=)
c.1707G>T (p.Ala569=)
c.1509G>T (p.Ala503=)
c.1071G>T (p.Ala357=)
n.1412G>T
c.1620G>T (p.Ala540=)
c.1185G>T (p.Ala395=)
c.1470G>T (p.Ala490=)
c.1629G>T (p.Ala543=)
c.1497G>T (p.Ala499=)
c.1659G>T (p.Ala553=)
c.1146G>T (p.Ala382=)
Xg.2934970C=CA2412580528ARSLc.1632G= (p.Ala544=)
c.1707G= (p.Ala569=)
c.1509G= (p.Ala503=)
c.1071G= (p.Ala357=)
n.1412G=
c.1620G= (p.Ala540=)
c.1185G= (p.Ala395=)
c.1470G= (p.Ala490=)
c.1629G= (p.Ala543=)
c.1497G= (p.Ala499=)
c.1659G= (p.Ala553=)
c.1146G= (p.Ala382=)
Xg.2934970C>GCA515396537ARSLc.1632G>C (p.Ala544=)
c.1707G>C (p.Ala569=)
c.1509G>C (p.Ala503=)
c.1071G>C (p.Ala357=)
n.1412G>C
c.1620G>C (p.Ala540=)
c.1185G>C (p.Ala395=)
c.1470G>C (p.Ala490=)
c.1629G>C (p.Ala543=)
c.1497G>C (p.Ala499=)
c.1659G>C (p.Ala553=)
c.1146G>C (p.Ala382=)
 dbSNP gnomAD v2 gnomAD v4
Xg.2934970C>TCA10337978ARSLc.1632G>A (p.Ala544=)
c.1707G>A (p.Ala569=)
c.1509G>A (p.Ala503=)
c.1071G>A (p.Ala357=)
n.1412G>A
c.1620G>A (p.Ala540=)
c.1185G>A (p.Ala395=)
c.1470G>A (p.Ala490=)
c.1629G>A (p.Ala543=)
c.1497G>A (p.Ala499=)
c.1659G>A (p.Ala553=)
c.1146G>A (p.Ala382=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.2934971G>ACA10337980ARSLc.1631C>T (p.Ala544Val)
c.1706C>T (p.Ala569Val)
c.1508C>T (p.Ala503Val)
c.1070C>T (p.Ala357Val)
n.1411C>T
c.1619C>T (p.Ala540Val)
c.1184C>T (p.Ala395Val)
c.1469C>T (p.Ala490Val)
c.1628C>T (p.Ala543Val)
c.1496C>T (p.Ala499Val)
c.1658C>T (p.Ala553Val)
c.1145C>T (p.Ala382Val)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
Xg.2934971G>CCA412275331ARSLc.1631C>G (p.Ala544Gly)
c.1706C>G (p.Ala569Gly)
c.1508C>G (p.Ala503Gly)
c.1070C>G (p.Ala357Gly)
n.1411C>G
c.1619C>G (p.Ala540Gly)
c.1184C>G (p.Ala395Gly)
c.1469C>G (p.Ala490Gly)
c.1628C>G (p.Ala543Gly)
c.1496C>G (p.Ala499Gly)
c.1658C>G (p.Ala553Gly)
c.1145C>G (p.Ala382Gly)
Xg.2934971G=CA2412580529ARSLc.1631C= (p.Ala544=)
c.1706C= (p.Ala569=)
c.1508C= (p.Ala503=)
c.1070C= (p.Ala357=)
n.1411C=
c.1619C= (p.Ala540=)
c.1184C= (p.Ala395=)
c.1469C= (p.Ala490=)
c.1628C= (p.Ala543=)
c.1496C= (p.Ala499=)
c.1658C= (p.Ala553=)
c.1145C= (p.Ala382=)
Xg.2934971G>TCA10337979ARSLc.1631C>A (p.Ala544Glu)
c.1706C>A (p.Ala569Glu)
c.1508C>A (p.Ala503Glu)
c.1070C>A (p.Ala357Glu)
n.1411C>A
c.1619C>A (p.Ala540Glu)
c.1184C>A (p.Ala395Glu)
c.1469C>A (p.Ala490Glu)
c.1628C>A (p.Ala543Glu)
c.1496C>A (p.Ala499Glu)
c.1658C>A (p.Ala553Glu)
c.1145C>A (p.Ala382Glu)
 dbSNP ExAC gnomAD v2 COSMIC COSMIC
Xg.2934972C>ACA412275332ARSLc.1630G>T (p.Ala544Ser)
c.1705G>T (p.Ala569Ser)
c.1507G>T (p.Ala503Ser)
c.1069G>T (p.Ala357Ser)
n.1410G>T
c.1618G>T (p.Ala540Ser)
c.1183G>T (p.Ala395Ser)
c.1468G>T (p.Ala490Ser)
c.1627G>T (p.Ala543Ser)
c.1495G>T (p.Ala499Ser)
c.1657G>T (p.Ala553Ser)
c.1144G>T (p.Ala382Ser)
Xg.2934972C>GCA412275333ARSLc.1630G>C (p.Ala544Pro)
c.1705G>C (p.Ala569Pro)
c.1507G>C (p.Ala503Pro)
c.1069G>C (p.Ala357Pro)
n.1410G>C
c.1618G>C (p.Ala540Pro)
c.1183G>C (p.Ala395Pro)
c.1468G>C (p.Ala490Pro)
c.1627G>C (p.Ala543Pro)
c.1495G>C (p.Ala499Pro)
c.1657G>C (p.Ala553Pro)
c.1144G>C (p.Ala382Pro)
Xg.2934972C>TCA412275334ARSLc.1630G>A (p.Ala544Thr)
c.1705G>A (p.Ala569Thr)
c.1507G>A (p.Ala503Thr)
c.1069G>A (p.Ala357Thr)
n.1410G>A
c.1618G>A (p.Ala540Thr)
c.1183G>A (p.Ala395Thr)
c.1468G>A (p.Ala490Thr)
c.1627G>A (p.Ala543Thr)
c.1495G>A (p.Ala499Thr)
c.1657G>A (p.Ala553Thr)
c.1144G>A (p.Ala382Thr)
Xg.2934973C>ACA412275335ARSLc.1629G>T (p.Gln543His)
c.1704G>T (p.Gln568His)
c.1506G>T (p.Gln502His)
c.1068G>T (p.Gln356His)
n.1409G>T
c.1617G>T (p.Gln539His)
c.1182G>T (p.Gln394His)
c.1467G>T (p.Gln489His)
c.1626G>T (p.Gln542His)
c.1494G>T (p.Gln498His)
c.1656G>T (p.Gln552His)
c.1143G>T (p.Gln381His)
Xg.2934973C=CA2412580530ARSLc.1629G= (p.Gln543=)
c.1704G= (p.Gln568=)
c.1506G= (p.Gln502=)
c.1068G= (p.Gln356=)
n.1409G=
c.1617G= (p.Gln539=)
c.1182G= (p.Gln394=)
c.1467G= (p.Gln489=)
c.1626G= (p.Gln542=)
c.1494G= (p.Gln498=)
c.1656G= (p.Gln552=)
c.1143G= (p.Gln381=)
Xg.2934973C>GCA412275336ARSLc.1629G>C (p.Gln543His)
c.1704G>C (p.Gln568His)
c.1506G>C (p.Gln502His)
c.1068G>C (p.Gln356His)
n.1409G>C
c.1617G>C (p.Gln539His)
c.1182G>C (p.Gln394His)
c.1467G>C (p.Gln489His)
c.1626G>C (p.Gln542His)
c.1494G>C (p.Gln498His)
c.1656G>C (p.Gln552His)
c.1143G>C (p.Gln381His)
Xg.2934973C>TCA10337981ARSLc.1629G>A (p.Gln543=)
c.1704G>A (p.Gln568=)
c.1506G>A (p.Gln502=)
c.1068G>A (p.Gln356=)
n.1409G>A
c.1617G>A (p.Gln539=)
c.1182G>A (p.Gln394=)
c.1467G>A (p.Gln489=)
c.1626G>A (p.Gln542=)
c.1494G>A (p.Gln498=)
c.1656G>A (p.Gln552=)
c.1143G>A (p.Gln381=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.2934974T>ACA412275337ARSLc.1628A>T (p.Gln543Leu)
c.1703A>T (p.Gln568Leu)
c.1505A>T (p.Gln502Leu)
c.1067A>T (p.Gln356Leu)
n.1408A>T
c.1616A>T (p.Gln539Leu)
c.1181A>T (p.Gln394Leu)
c.1466A>T (p.Gln489Leu)
c.1625A>T (p.Gln542Leu)
c.1493A>T (p.Gln498Leu)
c.1655A>T (p.Gln552Leu)
c.1142A>T (p.Gln381Leu)
Xg.2934974T>CCA412275338ARSLc.1628A>G (p.Gln543Arg)
c.1703A>G (p.Gln568Arg)
c.1505A>G (p.Gln502Arg)
c.1067A>G (p.Gln356Arg)
n.1408A>G
c.1616A>G (p.Gln539Arg)
c.1181A>G (p.Gln394Arg)
c.1466A>G (p.Gln489Arg)
c.1625A>G (p.Gln542Arg)
c.1493A>G (p.Gln498Arg)
c.1655A>G (p.Gln552Arg)
c.1142A>G (p.Gln381Arg)
Xg.2934974T>GCA412275339ARSLc.1628A>C (p.Gln543Pro)
c.1703A>C (p.Gln568Pro)
c.1505A>C (p.Gln502Pro)
c.1067A>C (p.Gln356Pro)
n.1408A>C
c.1616A>C (p.Gln539Pro)
c.1181A>C (p.Gln394Pro)
c.1466A>C (p.Gln489Pro)
c.1625A>C (p.Gln542Pro)
c.1493A>C (p.Gln498Pro)
c.1655A>C (p.Gln552Pro)
c.1142A>C (p.Gln381Pro)
Xg.2934975G>ACA412275340ARSLc.1627C>T (p.Gln543Ter)
c.1702C>T (p.Gln568Ter)
c.1504C>T (p.Gln502Ter)
c.1066C>T (p.Gln356Ter)
n.1407C>T
c.1615C>T (p.Gln539Ter)
c.1180C>T (p.Gln394Ter)
c.1465C>T (p.Gln489Ter)
c.1624C>T (p.Gln542Ter)
c.1492C>T (p.Gln498Ter)
c.1654C>T (p.Gln552Ter)
c.1141C>T (p.Gln381Ter)
Xg.2934975G>CCA412275341ARSLc.1627C>G (p.Gln543Glu)
c.1702C>G (p.Gln568Glu)
c.1504C>G (p.Gln502Glu)
c.1066C>G (p.Gln356Glu)
n.1407C>G
c.1615C>G (p.Gln539Glu)
c.1180C>G (p.Gln394Glu)
c.1465C>G (p.Gln489Glu)
c.1624C>G (p.Gln542Glu)
c.1492C>G (p.Gln498Glu)
c.1654C>G (p.Gln552Glu)
c.1141C>G (p.Gln381Glu)
Xg.2934975G>TCA412275342ARSLc.1627C>A (p.Gln543Lys)
c.1702C>A (p.Gln568Lys)
c.1504C>A (p.Gln502Lys)
c.1066C>A (p.Gln356Lys)
n.1407C>A
c.1615C>A (p.Gln539Lys)
c.1180C>A (p.Gln394Lys)
c.1465C>A (p.Gln489Lys)
c.1624C>A (p.Gln542Lys)
c.1492C>A (p.Gln498Lys)
c.1654C>A (p.Gln552Lys)
c.1141C>A (p.Gln381Lys)
Xg.2934976C>ACA412275343ARSLc.1626G>T (p.Gln542His)
c.1701G>T (p.Gln567His)
c.1503G>T (p.Gln501His)
c.1065G>T (p.Gln355His)
n.1406G>T
c.1614G>T (p.Gln538His)
c.1179G>T (p.Gln393His)
c.1464G>T (p.Gln488His)
c.1623G>T (p.Gln541His)
c.1491G>T (p.Gln497His)
c.1653G>T (p.Gln551His)
c.1140G>T (p.Gln380His)
Xg.2934976C=CA2412580531ARSLc.1626G= (p.Gln542=)
c.1701G= (p.Gln567=)
c.1503G= (p.Gln501=)
c.1065G= (p.Gln355=)
n.1406G=
c.1614G= (p.Gln538=)
c.1179G= (p.Gln393=)
c.1464G= (p.Gln488=)
c.1623G= (p.Gln541=)
c.1491G= (p.Gln497=)
c.1653G= (p.Gln551=)
c.1140G= (p.Gln380=)
Xg.2934976C>GCA412275344ARSLc.1626G>C (p.Gln542His)
c.1701G>C (p.Gln567His)
c.1503G>C (p.Gln501His)
c.1065G>C (p.Gln355His)
n.1406G>C
c.1614G>C (p.Gln538His)
c.1179G>C (p.Gln393His)
c.1464G>C (p.Gln488His)
c.1623G>C (p.Gln541His)
c.1491G>C (p.Gln497His)
c.1653G>C (p.Gln551His)
c.1140G>C (p.Gln380His)
Xg.2934976C>TCA515396544ARSLc.1626G>A (p.Gln542=)
c.1701G>A (p.Gln567=)
c.1503G>A (p.Gln501=)
c.1065G>A (p.Gln355=)
n.1406G>A
c.1614G>A (p.Gln538=)
c.1179G>A (p.Gln393=)
c.1464G>A (p.Gln488=)
c.1623G>A (p.Gln541=)
c.1491G>A (p.Gln497=)
c.1653G>A (p.Gln551=)
c.1140G>A (p.Gln380=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.2934977T>ACA412275345ARSLc.1625A>T (p.Gln542Leu)
c.1700A>T (p.Gln567Leu)
c.1502A>T (p.Gln501Leu)
c.1064A>T (p.Gln355Leu)
n.1405A>T
c.1613A>T (p.Gln538Leu)
c.1178A>T (p.Gln393Leu)
c.1463A>T (p.Gln488Leu)
c.1622A>T (p.Gln541Leu)
c.1490A>T (p.Gln497Leu)
c.1652A>T (p.Gln551Leu)
c.1139A>T (p.Gln380Leu)
 gnomAD v4
Xg.2934977T>CCA10337982ARSLc.1625A>G (p.Gln542Arg)
c.1700A>G (p.Gln567Arg)
c.1502A>G (p.Gln501Arg)
c.1064A>G (p.Gln355Arg)
n.1405A>G
c.1613A>G (p.Gln538Arg)
c.1178A>G (p.Gln393Arg)
c.1463A>G (p.Gln488Arg)
c.1622A>G (p.Gln541Arg)
c.1490A>G (p.Gln497Arg)
c.1652A>G (p.Gln551Arg)
c.1139A>G (p.Gln380Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.2934977T>GCA412275346ARSLc.1625A>C (p.Gln542Pro)
c.1700A>C (p.Gln567Pro)
c.1502A>C (p.Gln501Pro)
c.1064A>C (p.Gln355Pro)
n.1405A>C
c.1613A>C (p.Gln538Pro)
c.1178A>C (p.Gln393Pro)
c.1463A>C (p.Gln488Pro)
c.1622A>C (p.Gln541Pro)
c.1490A>C (p.Gln497Pro)
c.1652A>C (p.Gln551Pro)
c.1139A>C (p.Gln380Pro)
Xg.2934977T=CA2412580532ARSLc.1625A= (p.Gln542=)
c.1700A= (p.Gln567=)
c.1502A= (p.Gln501=)
c.1064A= (p.Gln355=)
n.1405A=
c.1613A= (p.Gln538=)
c.1178A= (p.Gln393=)
c.1463A= (p.Gln488=)
c.1622A= (p.Gln541=)
c.1490A= (p.Gln497=)
c.1652A= (p.Gln551=)
c.1139A= (p.Gln380=)
Xg.2934978G>ACA412275348ARSLc.1624C>T (p.Gln542Ter)
c.1699C>T (p.Gln567Ter)
c.1501C>T (p.Gln501Ter)
c.1063C>T (p.Gln355Ter)
n.1404C>T
c.1612C>T (p.Gln538Ter)
c.1177C>T (p.Gln393Ter)
c.1462C>T (p.Gln488Ter)
c.1621C>T (p.Gln541Ter)
c.1489C>T (p.Gln497Ter)
c.1651C>T (p.Gln551Ter)
c.1138C>T (p.Gln380Ter)
Xg.2934978G>CCA412275349ARSLc.1624C>G (p.Gln542Glu)
c.1699C>G (p.Gln567Glu)
c.1501C>G (p.Gln501Glu)
c.1063C>G (p.Gln355Glu)
n.1404C>G
c.1612C>G (p.Gln538Glu)
c.1177C>G (p.Gln393Glu)
c.1462C>G (p.Gln488Glu)
c.1621C>G (p.Gln541Glu)
c.1489C>G (p.Gln497Glu)
c.1651C>G (p.Gln551Glu)
c.1138C>G (p.Gln380Glu)
Xg.2934978G>TCA412275347ARSLc.1624C>A (p.Gln542Lys)
c.1699C>A (p.Gln567Lys)
c.1501C>A (p.Gln501Lys)
c.1063C>A (p.Gln355Lys)
n.1404C>A
c.1612C>A (p.Gln538Lys)
c.1177C>A (p.Gln393Lys)
c.1462C>A (p.Gln488Lys)
c.1621C>A (p.Gln541Lys)
c.1489C>A (p.Gln497Lys)
c.1651C>A (p.Gln551Lys)
c.1138C>A (p.Gln380Lys)
Xg.2934979delCA2539511785ARSLc.1624del (p.Gln542SerfsTer?)
c.1699del (p.Gln567SerfsTer?)
c.1501del (p.Gln501SerfsTer?)
c.1063del (p.Gln355SerfsTer?)
n.1404del
c.1612del (p.Gln538SerfsTer?)
c.1177del (p.Gln393SerfsTer?)
c.1462del (p.Gln488SerfsTer?)
c.1621del (p.Gln541SerfsTer?)
c.1489del (p.Gln497SerfsTer?)
c.1651del (p.Gln551SerfsTer?)
c.1138del (p.Gln380SerfsTer?)
Xg.2934979G>ACA515396547ARSLc.1623C>T (p.Val541=)
c.1698C>T (p.Val566=)
c.1500C>T (p.Val500=)
c.1062C>T (p.Val354=)
n.1403C>T
c.1611C>T (p.Val537=)
c.1176C>T (p.Val392=)
c.1461C>T (p.Val487=)
c.1620C>T (p.Val540=)
c.1488C>T (p.Val496=)
c.1650C>T (p.Val550=)
c.1137C>T (p.Val379=)
Xg.2934979G>CCA515396548ARSLc.1623C>G (p.Val541=)
c.1698C>G (p.Val566=)
c.1500C>G (p.Val500=)
c.1062C>G (p.Val354=)
n.1403C>G
c.1611C>G (p.Val537=)
c.1176C>G (p.Val392=)
c.1461C>G (p.Val487=)
c.1620C>G (p.Val540=)
c.1488C>G (p.Val496=)
c.1650C>G (p.Val550=)
c.1137C>G (p.Val379=)
Xg.2934979G>TCA515396549ARSLc.1623C>A (p.Val541=)
c.1698C>A (p.Val566=)
c.1500C>A (p.Val500=)
c.1062C>A (p.Val354=)
n.1403C>A
c.1611C>A (p.Val537=)
c.1176C>A (p.Val392=)
c.1461C>A (p.Val487=)
c.1620C>A (p.Val540=)
c.1488C>A (p.Val496=)
c.1650C>A (p.Val550=)
c.1137C>A (p.Val379=)
Xg.2934980A>CCA412275352ARSLc.1622T>G (p.Val541Gly)
c.1697T>G (p.Val566Gly)
c.1499T>G (p.Val500Gly)
c.1061T>G (p.Val354Gly)
n.1402T>G
c.1610T>G (p.Val537Gly)
c.1175T>G (p.Val392Gly)
c.1460T>G (p.Val487Gly)
c.1619T>G (p.Val540Gly)
c.1487T>G (p.Val496Gly)
c.1649T>G (p.Val550Gly)
c.1136T>G (p.Val379Gly)
Xg.2934980A>GCA412275350ARSLc.1622T>C (p.Val541Ala)
c.1697T>C (p.Val566Ala)
c.1499T>C (p.Val500Ala)
c.1061T>C (p.Val354Ala)
n.1402T>C
c.1610T>C (p.Val537Ala)
c.1175T>C (p.Val392Ala)
c.1460T>C (p.Val487Ala)
c.1619T>C (p.Val540Ala)
c.1487T>C (p.Val496Ala)
c.1649T>C (p.Val550Ala)
c.1136T>C (p.Val379Ala)
 gnomAD v4
Xg.2934980A>TCA412275351ARSLc.1622T>A (p.Val541Asp)
c.1697T>A (p.Val566Asp)
c.1499T>A (p.Val500Asp)
c.1061T>A (p.Val354Asp)
n.1402T>A
c.1610T>A (p.Val537Asp)
c.1175T>A (p.Val392Asp)
c.1460T>A (p.Val487Asp)
c.1619T>A (p.Val540Asp)
c.1487T>A (p.Val496Asp)
c.1649T>A (p.Val550Asp)
c.1136T>A (p.Val379Asp)
Xg.2934981C>ACA412275353ARSLc.1621G>T (p.Val541Phe)
c.1696G>T (p.Val566Phe)
c.1498G>T (p.Val500Phe)
c.1060G>T (p.Val354Phe)
n.1401G>T
c.1609G>T (p.Val537Phe)
c.1174G>T (p.Val392Phe)
c.1459G>T (p.Val487Phe)
c.1618G>T (p.Val540Phe)
c.1486G>T (p.Val496Phe)
c.1648G>T (p.Val550Phe)
c.1135G>T (p.Val379Phe)
Xg.2934981C>GCA412275354ARSLc.1621G>C (p.Val541Leu)
c.1696G>C (p.Val566Leu)
c.1498G>C (p.Val500Leu)
c.1060G>C (p.Val354Leu)
n.1401G>C
c.1609G>C (p.Val537Leu)
c.1174G>C (p.Val392Leu)
c.1459G>C (p.Val487Leu)
c.1618G>C (p.Val540Leu)
c.1486G>C (p.Val496Leu)
c.1648G>C (p.Val550Leu)
c.1135G>C (p.Val379Leu)
Xg.2934981C>TCA412275355ARSLc.1621G>A (p.Val541Ile)
c.1696G>A (p.Val566Ile)
c.1498G>A (p.Val500Ile)
c.1060G>A (p.Val354Ile)
n.1401G>A
c.1609G>A (p.Val537Ile)
c.1174G>A (p.Val392Ile)
c.1459G>A (p.Val487Ile)
c.1618G>A (p.Val540Ile)
c.1486G>A (p.Val496Ile)
c.1648G>A (p.Val550Ile)
c.1135G>A (p.Val379Ile)
Xg.2934982T>ACA515396558ARSLc.1620A>T (p.Arg540=)
c.1695A>T (p.Arg565=)
c.1497A>T (p.Arg499=)
c.1059A>T (p.Arg353=)
n.1400A>T
c.1608A>T (p.Arg536=)
c.1173A>T (p.Arg391=)
c.1458A>T (p.Arg486=)
c.1617A>T (p.Arg539=)
c.1485A>T (p.Arg495=)
c.1647A>T (p.Arg549=)
c.1134A>T (p.Arg378=)
Xg.2934982T>CCA515396559ARSLc.1620A>G (p.Arg540=)
c.1695A>G (p.Arg565=)
c.1497A>G (p.Arg499=)
c.1059A>G (p.Arg353=)
n.1400A>G
c.1608A>G (p.Arg536=)
c.1173A>G (p.Arg391=)
c.1458A>G (p.Arg486=)
c.1617A>G (p.Arg539=)
c.1485A>G (p.Arg495=)
c.1647A>G (p.Arg549=)
c.1134A>G (p.Arg378=)
 ClinVar
Xg.2934982T>GCA515396560ARSLc.1620A>C (p.Arg540=)
c.1695A>C (p.Arg565=)
c.1497A>C (p.Arg499=)
c.1059A>C (p.Arg353=)
n.1400A>C
c.1608A>C (p.Arg536=)
c.1173A>C (p.Arg391=)
c.1458A>C (p.Arg486=)
c.1617A>C (p.Arg539=)
c.1485A>C (p.Arg495=)
c.1647A>C (p.Arg549=)
c.1134A>C (p.Arg378=)
Xg.2934983C>ACA412275356ARSLc.1619G>T (p.Arg540Leu)
c.1694G>T (p.Arg565Leu)
c.1496G>T (p.Arg499Leu)
c.1058G>T (p.Arg353Leu)
n.1399G>T
c.1607G>T (p.Arg536Leu)
c.1172G>T (p.Arg391Leu)
c.1457G>T (p.Arg486Leu)
c.1616G>T (p.Arg539Leu)
c.1484G>T (p.Arg495Leu)
c.1646G>T (p.Arg549Leu)
c.1133G>T (p.Arg378Leu)
Xg.2934983C=CA2412580533ARSLc.1619G= (p.Arg540=)
c.1694G= (p.Arg565=)
c.1496G= (p.Arg499=)
c.1058G= (p.Arg353=)
n.1399G=
c.1607G= (p.Arg536=)
c.1172G= (p.Arg391=)
c.1457G= (p.Arg486=)
c.1616G= (p.Arg539=)
c.1484G= (p.Arg495=)
c.1646G= (p.Arg549=)
c.1133G= (p.Arg378=)
Xg.2934983C>GCA412275357ARSLc.1619G>C (p.Arg540Pro)
c.1694G>C (p.Arg565Pro)
c.1496G>C (p.Arg499Pro)
c.1058G>C (p.Arg353Pro)
n.1399G>C
c.1607G>C (p.Arg536Pro)
c.1172G>C (p.Arg391Pro)
c.1457G>C (p.Arg486Pro)
c.1616G>C (p.Arg539Pro)
c.1484G>C (p.Arg495Pro)
c.1646G>C (p.Arg549Pro)
c.1133G>C (p.Arg378Pro)
 gnomAD v4
Xg.2934983C>TCA10337983ARSLc.1619G>A (p.Arg540Gln)
c.1694G>A (p.Arg565Gln)
c.1496G>A (p.Arg499Gln)
c.1058G>A (p.Arg353Gln)
n.1399G>A
c.1607G>A (p.Arg536Gln)
c.1172G>A (p.Arg391Gln)
c.1457G>A (p.Arg486Gln)
c.1616G>A (p.Arg539Gln)
c.1484G>A (p.Arg495Gln)
c.1646G>A (p.Arg549Gln)
c.1133G>A (p.Arg378Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.2934984G>ACA412275358ARSLc.1618C>T (p.Arg540Ter)
c.1693C>T (p.Arg565Ter)
c.1495C>T (p.Arg499Ter)
c.1057C>T (p.Arg353Ter)
n.1398C>T
c.1606C>T (p.Arg536Ter)
c.1171C>T (p.Arg391Ter)
c.1456C>T (p.Arg486Ter)
c.1615C>T (p.Arg539Ter)
c.1483C>T (p.Arg495Ter)
c.1645C>T (p.Arg549Ter)
c.1132C>T (p.Arg378Ter)
 ClinVar dbSNP gnomAD v2
Xg.2934984G>CCA412275359ARSLc.1618C>G (p.Arg540Gly)
c.1693C>G (p.Arg565Gly)
c.1495C>G (p.Arg499Gly)
c.1057C>G (p.Arg353Gly)
n.1398C>G
c.1606C>G (p.Arg536Gly)
c.1171C>G (p.Arg391Gly)
c.1456C>G (p.Arg486Gly)
c.1615C>G (p.Arg539Gly)
c.1483C>G (p.Arg495Gly)
c.1645C>G (p.Arg549Gly)
c.1132C>G (p.Arg378Gly)
 dbSNP gnomAD v2 gnomAD v4
Xg.2934984G=CA2412580534ARSLc.1618C= (p.Arg540=)
c.1693C= (p.Arg565=)
c.1495C= (p.Arg499=)
c.1057C= (p.Arg353=)
n.1398C=
c.1606C= (p.Arg536=)
c.1171C= (p.Arg391=)
c.1456C= (p.Arg486=)
c.1615C= (p.Arg539=)
c.1483C= (p.Arg495=)
c.1645C= (p.Arg549=)
c.1132C= (p.Arg378=)
Xg.2934984G>TCA515396568ARSLc.1618C>A (p.Arg540=)
c.1693C>A (p.Arg565=)
c.1495C>A (p.Arg499=)
c.1057C>A (p.Arg353=)
n.1398C>A
c.1606C>A (p.Arg536=)
c.1171C>A (p.Arg391=)
c.1456C>A (p.Arg486=)
c.1615C>A (p.Arg539=)
c.1483C>A (p.Arg495=)
c.1645C>A (p.Arg549=)
c.1132C>A (p.Arg378=)
Xg.2934985T>ACA412275360ARSLc.1617A>T (p.Glu539Asp)
c.1692A>T (p.Glu564Asp)
c.1494A>T (p.Glu498Asp)
c.1056A>T (p.Glu352Asp)
n.1397A>T
c.1605A>T (p.Glu535Asp)
c.1170A>T (p.Glu390Asp)
c.1455A>T (p.Glu485Asp)
c.1614A>T (p.Glu538Asp)
c.1482A>T (p.Glu494Asp)
c.1644A>T (p.Glu548Asp)
c.1131A>T (p.Glu377Asp)
Xg.2934985T>CCA515396569ARSLc.1617A>G (p.Glu539=)
c.1692A>G (p.Glu564=)
c.1494A>G (p.Glu498=)
c.1056A>G (p.Glu352=)
n.1397A>G
c.1605A>G (p.Glu535=)
c.1170A>G (p.Glu390=)
c.1455A>G (p.Glu485=)
c.1614A>G (p.Glu538=)
c.1482A>G (p.Glu494=)
c.1644A>G (p.Glu548=)
c.1131A>G (p.Glu377=)
 gnomAD v4
Xg.2934985T>GCA412275361ARSLc.1617A>C (p.Glu539Asp)
c.1692A>C (p.Glu564Asp)
c.1494A>C (p.Glu498Asp)
c.1056A>C (p.Glu352Asp)
n.1397A>C
c.1605A>C (p.Glu535Asp)
c.1170A>C (p.Glu390Asp)
c.1455A>C (p.Glu485Asp)
c.1614A>C (p.Glu538Asp)
c.1482A>C (p.Glu494Asp)
c.1644A>C (p.Glu548Asp)
c.1131A>C (p.Glu377Asp)
Xg.2934986T>ACA412275365ARSLc.1616A>T (p.Glu539Val)
c.1691A>T (p.Glu564Val)
c.1493A>T (p.Glu498Val)
c.1055A>T (p.Glu352Val)
n.1396A>T
c.1604A>T (p.Glu535Val)
c.1169A>T (p.Glu390Val)
c.1454A>T (p.Glu485Val)
c.1613A>T (p.Glu538Val)
c.1481A>T (p.Glu494Val)
c.1643A>T (p.Glu548Val)
c.1130A>T (p.Glu377Val)
Xg.2934986T>CCA412275362ARSLc.1616A>G (p.Glu539Gly)
c.1691A>G (p.Glu564Gly)
c.1493A>G (p.Glu498Gly)
c.1055A>G (p.Glu352Gly)
n.1396A>G
c.1604A>G (p.Glu535Gly)
c.1169A>G (p.Glu390Gly)
c.1454A>G (p.Glu485Gly)
c.1613A>G (p.Glu538Gly)
c.1481A>G (p.Glu494Gly)
c.1643A>G (p.Glu548Gly)
c.1130A>G (p.Glu377Gly)
Xg.2934986T>GCA412275363ARSLc.1616A>C (p.Glu539Ala)
c.1691A>C (p.Glu564Ala)
c.1493A>C (p.Glu498Ala)
c.1055A>C (p.Glu352Ala)
n.1396A>C
c.1604A>C (p.Glu535Ala)
c.1169A>C (p.Glu390Ala)
c.1454A>C (p.Glu485Ala)
c.1613A>C (p.Glu538Ala)
c.1481A>C (p.Glu494Ala)
c.1643A>C (p.Glu548Ala)
c.1130A>C (p.Glu377Ala)
Xg.2934987C>ACA412275368ARSLc.1615G>T (p.Glu539Ter)
c.1690G>T (p.Glu564Ter)
c.1492G>T (p.Glu498Ter)
c.1054G>T (p.Glu352Ter)
n.1395G>T
c.1603G>T (p.Glu535Ter)
c.1168G>T (p.Glu390Ter)
c.1453G>T (p.Glu485Ter)
c.1612G>T (p.Glu538Ter)
c.1480G>T (p.Glu494Ter)
c.1642G>T (p.Glu548Ter)
c.1129G>T (p.Glu377Ter)
Xg.2934987C>GCA412275369ARSLc.1615G>C (p.Glu539Gln)
c.1690G>C (p.Glu564Gln)
c.1492G>C (p.Glu498Gln)
c.1054G>C (p.Glu352Gln)
n.1395G>C
c.1603G>C (p.Glu535Gln)
c.1168G>C (p.Glu390Gln)
c.1453G>C (p.Glu485Gln)
c.1612G>C (p.Glu538Gln)
c.1480G>C (p.Glu494Gln)
c.1642G>C (p.Glu548Gln)
c.1129G>C (p.Glu377Gln)
Xg.2934987C>TCA412275370ARSLc.1615G>A (p.Glu539Lys)
c.1690G>A (p.Glu564Lys)
c.1492G>A (p.Glu498Lys)
c.1054G>A (p.Glu352Lys)
n.1395G>A
c.1603G>A (p.Glu535Lys)
c.1168G>A (p.Glu390Lys)
c.1453G>A (p.Glu485Lys)
c.1612G>A (p.Glu538Lys)
c.1480G>A (p.Glu494Lys)
c.1642G>A (p.Glu548Lys)
c.1129G>A (p.Glu377Lys)
Xg.2934988C>ACA412275373ARSLc.1614G>T (p.Met538Ile)
c.1689G>T (p.Met563Ile)
c.1491G>T (p.Met497Ile)
c.1053G>T (p.Met351Ile)
n.1394G>T
c.1602G>T (p.Met534Ile)
c.1167G>T (p.Met389Ile)
c.1452G>T (p.Met484Ile)
c.1611G>T (p.Met537Ile)
c.1479G>T (p.Met493Ile)
c.1641G>T (p.Met547Ile)
c.1128G>T (p.Met376Ile)
Xg.2934988C>GCA412275375ARSLc.1614G>C (p.Met538Ile)
c.1689G>C (p.Met563Ile)
c.1491G>C (p.Met497Ile)
c.1053G>C (p.Met351Ile)
n.1394G>C
c.1602G>C (p.Met534Ile)
c.1167G>C (p.Met389Ile)
c.1452G>C (p.Met484Ile)
c.1611G>C (p.Met537Ile)
c.1479G>C (p.Met493Ile)
c.1641G>C (p.Met547Ile)
c.1128G>C (p.Met376Ile)
Xg.2934988C>TCA412275376ARSLc.1614G>A (p.Met538Ile)
c.1689G>A (p.Met563Ile)
c.1491G>A (p.Met497Ile)
c.1053G>A (p.Met351Ile)
n.1394G>A
c.1602G>A (p.Met534Ile)
c.1167G>A (p.Met389Ile)
c.1452G>A (p.Met484Ile)
c.1611G>A (p.Met537Ile)
c.1479G>A (p.Met493Ile)
c.1641G>A (p.Met547Ile)
c.1128G>A (p.Met376Ile)
 gnomAD v4
Xg.2934989A>CCA412275379ARSLc.1613T>G (p.Met538Arg)
c.1688T>G (p.Met563Arg)
c.1490T>G (p.Met497Arg)
c.1052T>G (p.Met351Arg)
n.1393T>G
c.1601T>G (p.Met534Arg)
c.1166T>G (p.Met389Arg)
c.1451T>G (p.Met484Arg)
c.1610T>G (p.Met537Arg)
c.1478T>G (p.Met493Arg)
c.1640T>G (p.Met547Arg)
c.1127T>G (p.Met376Arg)
Xg.2934989A>GCA412275381ARSLc.1613T>C (p.Met538Thr)
c.1688T>C (p.Met563Thr)
c.1490T>C (p.Met497Thr)
c.1052T>C (p.Met351Thr)
n.1393T>C
c.1601T>C (p.Met534Thr)
c.1166T>C (p.Met389Thr)
c.1451T>C (p.Met484Thr)
c.1610T>C (p.Met537Thr)
c.1478T>C (p.Met493Thr)
c.1640T>C (p.Met547Thr)
c.1127T>C (p.Met376Thr)
Xg.2934989A>TCA412275383ARSLc.1613T>A (p.Met538Lys)
c.1688T>A (p.Met563Lys)
c.1490T>A (p.Met497Lys)
c.1052T>A (p.Met351Lys)
n.1393T>A
c.1601T>A (p.Met534Lys)
c.1166T>A (p.Met389Lys)
c.1451T>A (p.Met484Lys)
c.1610T>A (p.Met537Lys)
c.1478T>A (p.Met493Lys)
c.1640T>A (p.Met547Lys)
c.1127T>A (p.Met376Lys)
Xg.2934990T>ACA412275385ARSLc.1612A>T (p.Met538Leu)
c.1687A>T (p.Met563Leu)
c.1489A>T (p.Met497Leu)
c.1051A>T (p.Met351Leu)
n.1392A>T
c.1600A>T (p.Met534Leu)
c.1165A>T (p.Met389Leu)
c.1450A>T (p.Met484Leu)
c.1609A>T (p.Met537Leu)
c.1477A>T (p.Met493Leu)
c.1639A>T (p.Met547Leu)
c.1126A>T (p.Met376Leu)
Xg.2934990T>CCA412275387ARSLc.1612A>G (p.Met538Val)
c.1687A>G (p.Met563Val)
c.1489A>G (p.Met497Val)
c.1051A>G (p.Met351Val)
n.1392A>G
c.1600A>G (p.Met534Val)
c.1165A>G (p.Met389Val)
c.1450A>G (p.Met484Val)
c.1609A>G (p.Met537Val)
c.1477A>G (p.Met493Val)
c.1639A>G (p.Met547Val)
c.1126A>G (p.Met376Val)
Xg.2934990T>GCA412275389ARSLc.1612A>C (p.Met538Leu)
c.1687A>C (p.Met563Leu)
c.1489A>C (p.Met497Leu)
c.1051A>C (p.Met351Leu)
n.1392A>C
c.1600A>C (p.Met534Leu)
c.1165A>C (p.Met389Leu)
c.1450A>C (p.Met484Leu)
c.1609A>C (p.Met537Leu)
c.1477A>C (p.Met493Leu)
c.1639A>C (p.Met547Leu)
c.1126A>C (p.Met376Leu)
Xg.2934991C>ACA515396550ARSLc.1611G>T (p.Val537=)
c.1686G>T (p.Val562=)
c.1488G>T (p.Val496=)
c.1050G>T (p.Val350=)
n.1391G>T
c.1599G>T (p.Val533=)
c.1164G>T (p.Val388=)
c.1449G>T (p.Val483=)
c.1608G>T (p.Val536=)
c.1476G>T (p.Val492=)
c.1638G>T (p.Val546=)
c.1125G>T (p.Val375=)
Xg.2934991C=CA2412580535ARSLc.1611G= (p.Val537=)
c.1686G= (p.Val562=)
c.1488G= (p.Val496=)
c.1050G= (p.Val350=)
n.1391G=
c.1599G= (p.Val533=)
c.1164G= (p.Val388=)
c.1449G= (p.Val483=)
c.1608G= (p.Val536=)
c.1476G= (p.Val492=)
c.1638G= (p.Val546=)
c.1125G= (p.Val375=)
Xg.2934991C>GCA515396552ARSLc.1611G>C (p.Val537=)
c.1686G>C (p.Val562=)
c.1488G>C (p.Val496=)
c.1050G>C (p.Val350=)
n.1391G>C
c.1599G>C (p.Val533=)
c.1164G>C (p.Val388=)
c.1449G>C (p.Val483=)
c.1608G>C (p.Val536=)
c.1476G>C (p.Val492=)
c.1638G>C (p.Val546=)
c.1125G>C (p.Val375=)
Xg.2934991C>TCA515396553ARSLc.1611G>A (p.Val537=)
c.1686G>A (p.Val562=)
c.1488G>A (p.Val496=)
c.1050G>A (p.Val350=)
n.1391G>A
c.1599G>A (p.Val533=)
c.1164G>A (p.Val388=)
c.1449G>A (p.Val483=)
c.1608G>A (p.Val536=)
c.1476G>A (p.Val492=)
c.1638G>A (p.Val546=)
c.1125G>A (p.Val375=)
 ClinVar dbSNP gnomAD v4
Xg.2934992A>CCA412275392ARSLc.1610T>G (p.Val537Gly)
c.1685T>G (p.Val562Gly)
c.1487T>G (p.Val496Gly)
c.1049T>G (p.Val350Gly)
n.1390T>G
c.1598T>G (p.Val533Gly)
c.1163T>G (p.Val388Gly)
c.1448T>G (p.Val483Gly)
c.1607T>G (p.Val536Gly)
c.1475T>G (p.Val492Gly)
c.1637T>G (p.Val546Gly)
c.1124T>G (p.Val375Gly)
Xg.2934992A>GCA412275394ARSLc.1610T>C (p.Val537Ala)
c.1685T>C (p.Val562Ala)
c.1487T>C (p.Val496Ala)
c.1049T>C (p.Val350Ala)
n.1390T>C
c.1598T>C (p.Val533Ala)
c.1163T>C (p.Val388Ala)
c.1448T>C (p.Val483Ala)
c.1607T>C (p.Val536Ala)
c.1475T>C (p.Val492Ala)
c.1637T>C (p.Val546Ala)
c.1124T>C (p.Val375Ala)
Xg.2934992A>TCA412275390ARSLc.1610T>A (p.Val537Glu)
c.1685T>A (p.Val562Glu)
c.1487T>A (p.Val496Glu)
c.1049T>A (p.Val350Glu)
n.1390T>A
c.1598T>A (p.Val533Glu)
c.1163T>A (p.Val388Glu)
c.1448T>A (p.Val483Glu)
c.1607T>A (p.Val536Glu)
c.1475T>A (p.Val492Glu)
c.1637T>A (p.Val546Glu)
c.1124T>A (p.Val375Glu)
Xg.2934993C>ACA412275396ARSLc.1609G>T (p.Val537Leu)
c.1684G>T (p.Val562Leu)
c.1486G>T (p.Val496Leu)
c.1048G>T (p.Val350Leu)
n.1389G>T
c.1597G>T (p.Val533Leu)
c.1162G>T (p.Val388Leu)
c.1447G>T (p.Val483Leu)
c.1606G>T (p.Val536Leu)
c.1474G>T (p.Val492Leu)
c.1636G>T (p.Val546Leu)
c.1123G>T (p.Val375Leu)
 gnomAD v4
Xg.2934993C>GCA412275398ARSLc.1609G>C (p.Val537Leu)
c.1684G>C (p.Val562Leu)
c.1486G>C (p.Val496Leu)
c.1048G>C (p.Val350Leu)
n.1389G>C
c.1597G>C (p.Val533Leu)
c.1162G>C (p.Val388Leu)
c.1447G>C (p.Val483Leu)
c.1606G>C (p.Val536Leu)
c.1474G>C (p.Val492Leu)
c.1636G>C (p.Val546Leu)
c.1123G>C (p.Val375Leu)
Xg.2934993C>TCA412275400ARSLc.1609G>A (p.Val537Met)
c.1684G>A (p.Val562Met)
c.1486G>A (p.Val496Met)
c.1048G>A (p.Val350Met)
n.1389G>A
c.1597G>A (p.Val533Met)
c.1162G>A (p.Val388Met)
c.1447G>A (p.Val483Met)
c.1606G>A (p.Val536Met)
c.1474G>A (p.Val492Met)
c.1636G>A (p.Val546Met)
c.1123G>A (p.Val375Met)
Xg.2934994C>ACA412275401ARSLc.1608G>T (p.Gln536His)
c.1683G>T (p.Gln561His)
c.1485G>T (p.Gln495His)
c.1047G>T (p.Gln349His)
n.1388G>T
c.1596G>T (p.Gln532His)
c.1161G>T (p.Gln387His)
c.1446G>T (p.Gln482His)
c.1605G>T (p.Gln535His)
c.1473G>T (p.Gln491His)
c.1635G>T (p.Gln545His)
c.1122G>T (p.Gln374His)
Xg.2934994C>GCA412275402ARSLc.1608G>C (p.Gln536His)
c.1683G>C (p.Gln561His)
c.1485G>C (p.Gln495His)
c.1047G>C (p.Gln349His)
n.1388G>C
c.1596G>C (p.Gln532His)
c.1161G>C (p.Gln387His)
c.1446G>C (p.Gln482His)
c.1605G>C (p.Gln535His)
c.1473G>C (p.Gln491His)
c.1635G>C (p.Gln545His)
c.1122G>C (p.Gln374His)
Xg.2934994C>TCA515396562ARSLc.1608G>A (p.Gln536=)
c.1683G>A (p.Gln561=)
c.1485G>A (p.Gln495=)
c.1047G>A (p.Gln349=)
n.1388G>A
c.1596G>A (p.Gln532=)
c.1161G>A (p.Gln387=)
c.1446G>A (p.Gln482=)
c.1605G>A (p.Gln535=)
c.1473G>A (p.Gln491=)
c.1635G>A (p.Gln545=)
c.1122G>A (p.Gln374=)
Xg.2934995T>ACA412275405ARSLc.1607A>T (p.Gln536Leu)
c.1682A>T (p.Gln561Leu)
c.1484A>T (p.Gln495Leu)
c.1046A>T (p.Gln349Leu)
n.1387A>T
c.1595A>T (p.Gln532Leu)
c.1160A>T (p.Gln387Leu)
c.1445A>T (p.Gln482Leu)
c.1604A>T (p.Gln535Leu)
c.1472A>T (p.Gln491Leu)
c.1634A>T (p.Gln545Leu)
c.1121A>T (p.Gln374Leu)
Xg.2934995T>CCA412275407ARSLc.1607A>G (p.Gln536Arg)
c.1682A>G (p.Gln561Arg)
c.1484A>G (p.Gln495Arg)
c.1046A>G (p.Gln349Arg)
n.1387A>G
c.1595A>G (p.Gln532Arg)
c.1160A>G (p.Gln387Arg)
c.1445A>G (p.Gln482Arg)
c.1604A>G (p.Gln535Arg)
c.1472A>G (p.Gln491Arg)
c.1634A>G (p.Gln545Arg)
c.1121A>G (p.Gln374Arg)
Xg.2934995T>GCA412275408ARSLc.1607A>C (p.Gln536Pro)
c.1682A>C (p.Gln561Pro)
c.1484A>C (p.Gln495Pro)
c.1046A>C (p.Gln349Pro)
n.1387A>C
c.1595A>C (p.Gln532Pro)
c.1160A>C (p.Gln387Pro)
c.1445A>C (p.Gln482Pro)
c.1604A>C (p.Gln535Pro)
c.1472A>C (p.Gln491Pro)
c.1634A>C (p.Gln545Pro)
c.1121A>C (p.Gln374Pro)
Xg.2934996G>ACA412275411ARSLc.1606C>T (p.Gln536Ter)
c.1681C>T (p.Gln561Ter)
c.1483C>T (p.Gln495Ter)
c.1045C>T (p.Gln349Ter)
n.1386C>T
c.1594C>T (p.Gln532Ter)
c.1159C>T (p.Gln387Ter)
c.1444C>T (p.Gln482Ter)
c.1603C>T (p.Gln535Ter)
c.1471C>T (p.Gln491Ter)
c.1633C>T (p.Gln545Ter)
c.1120C>T (p.Gln374Ter)
Xg.2934996G>CCA412275413ARSLc.1606C>G (p.Gln536Glu)
c.1681C>G (p.Gln561Glu)
c.1483C>G (p.Gln495Glu)
c.1045C>G (p.Gln349Glu)
n.1386C>G
c.1594C>G (p.Gln532Glu)
c.1159C>G (p.Gln387Glu)
c.1444C>G (p.Gln482Glu)
c.1603C>G (p.Gln535Glu)
c.1471C>G (p.Gln491Glu)
c.1633C>G (p.Gln545Glu)
c.1120C>G (p.Gln374Glu)
Xg.2934996G>TCA412275415ARSLc.1606C>A (p.Gln536Lys)
c.1681C>A (p.Gln561Lys)
c.1483C>A (p.Gln495Lys)
c.1045C>A (p.Gln349Lys)
n.1386C>A
c.1594C>A (p.Gln532Lys)
c.1159C>A (p.Gln387Lys)
c.1444C>A (p.Gln482Lys)
c.1603C>A (p.Gln535Lys)
c.1471C>A (p.Gln491Lys)
c.1633C>A (p.Gln545Lys)
c.1120C>A (p.Gln374Lys)
Xg.2934997A>CCA412275417ARSLc.1605T>G (p.Tyr535Ter)
c.1680T>G (p.Tyr560Ter)
c.1482T>G (p.Tyr494Ter)
c.1044T>G (p.Tyr348Ter)
n.1385T>G
c.1593T>G (p.Tyr531Ter)
c.1158T>G (p.Tyr386Ter)
c.1443T>G (p.Tyr481Ter)
c.1602T>G (p.Tyr534Ter)
c.1470T>G (p.Tyr490Ter)
c.1632T>G (p.Tyr544Ter)
c.1119T>G (p.Tyr373Ter)
Xg.2934997A>GCA515396574ARSLc.1605T>C (p.Tyr535=)
c.1680T>C (p.Tyr560=)
c.1482T>C (p.Tyr494=)
c.1044T>C (p.Tyr348=)
n.1385T>C
c.1593T>C (p.Tyr531=)
c.1158T>C (p.Tyr386=)
c.1443T>C (p.Tyr481=)
c.1602T>C (p.Tyr534=)
c.1470T>C (p.Tyr490=)
c.1632T>C (p.Tyr544=)
c.1119T>C (p.Tyr373=)
Xg.2934997A>TCA412275419ARSLc.1605T>A (p.Tyr535Ter)
c.1680T>A (p.Tyr560Ter)
c.1482T>A (p.Tyr494Ter)
c.1044T>A (p.Tyr348Ter)
n.1385T>A
c.1593T>A (p.Tyr531Ter)
c.1158T>A (p.Tyr386Ter)
c.1443T>A (p.Tyr481Ter)
c.1602T>A (p.Tyr534Ter)
c.1470T>A (p.Tyr490Ter)
c.1632T>A (p.Tyr544Ter)
c.1119T>A (p.Tyr373Ter)
Xg.2934998T>ACA412275425ARSLc.1604A>T (p.Tyr535Phe)
c.1679A>T (p.Tyr560Phe)
c.1481A>T (p.Tyr494Phe)
c.1043A>T (p.Tyr348Phe)
n.1384A>T
c.1592A>T (p.Tyr531Phe)
c.1157A>T (p.Tyr386Phe)
c.1442A>T (p.Tyr481Phe)
c.1601A>T (p.Tyr534Phe)
c.1469A>T (p.Tyr490Phe)
c.1631A>T (p.Tyr544Phe)
c.1118A>T (p.Tyr373Phe)
Xg.2934998T>CCA412275423ARSLc.1604A>G (p.Tyr535Cys)
c.1679A>G (p.Tyr560Cys)
c.1481A>G (p.Tyr494Cys)
c.1043A>G (p.Tyr348Cys)
n.1384A>G
c.1592A>G (p.Tyr531Cys)
c.1157A>G (p.Tyr386Cys)
c.1442A>G (p.Tyr481Cys)
c.1601A>G (p.Tyr534Cys)
c.1469A>G (p.Tyr490Cys)
c.1631A>G (p.Tyr544Cys)
c.1118A>G (p.Tyr373Cys)
Xg.2934998T>GCA412275422ARSLc.1604A>C (p.Tyr535Ser)
c.1679A>C (p.Tyr560Ser)
c.1481A>C (p.Tyr494Ser)
c.1043A>C (p.Tyr348Ser)
n.1384A>C
c.1592A>C (p.Tyr531Ser)
c.1157A>C (p.Tyr386Ser)
c.1442A>C (p.Tyr481Ser)
c.1601A>C (p.Tyr534Ser)
c.1469A>C (p.Tyr490Ser)
c.1631A>C (p.Tyr544Ser)
c.1118A>C (p.Tyr373Ser)
Xg.2934999A>CCA412275427ARSLc.1603T>G (p.Tyr535Asp)
c.1678T>G (p.Tyr560Asp)
c.1480T>G (p.Tyr494Asp)
c.1042T>G (p.Tyr348Asp)
n.1383T>G
c.1591T>G (p.Tyr531Asp)
c.1156T>G (p.Tyr386Asp)
c.1441T>G (p.Tyr481Asp)
c.1600T>G (p.Tyr534Asp)
c.1468T>G (p.Tyr490Asp)
c.1630T>G (p.Tyr544Asp)
c.1117T>G (p.Tyr373Asp)
Xg.2934999A>GCA412275429ARSLc.1603T>C (p.Tyr535His)
c.1678T>C (p.Tyr560His)
c.1480T>C (p.Tyr494His)
c.1042T>C (p.Tyr348His)
n.1383T>C
c.1591T>C (p.Tyr531His)
c.1156T>C (p.Tyr386His)
c.1441T>C (p.Tyr481His)
c.1600T>C (p.Tyr534His)
c.1468T>C (p.Tyr490His)
c.1630T>C (p.Tyr544His)
c.1117T>C (p.Tyr373His)
Xg.2934999A>TCA412275430ARSLc.1603T>A (p.Tyr535Asn)
c.1678T>A (p.Tyr560Asn)
c.1480T>A (p.Tyr494Asn)
c.1042T>A (p.Tyr348Asn)
n.1383T>A
c.1591T>A (p.Tyr531Asn)
c.1156T>A (p.Tyr386Asn)
c.1441T>A (p.Tyr481Asn)
c.1600T>A (p.Tyr534Asn)
c.1468T>A (p.Tyr490Asn)
c.1630T>A (p.Tyr544Asn)
c.1117T>A (p.Tyr373Asn)
Xg.2935000G>ACA515396583ARSLc.1602C>T (p.Phe534=)
c.1677C>T (p.Phe559=)
c.1479C>T (p.Phe493=)
c.1041C>T (p.Phe347=)
n.1382C>T
c.1590C>T (p.Phe530=)
c.1155C>T (p.Phe385=)
c.1440C>T (p.Phe480=)
c.1599C>T (p.Phe533=)
c.1467C>T (p.Phe489=)
c.1629C>T (p.Phe543=)
c.1116C>T (p.Phe372=)
Xg.2935000G>CCA412275431ARSLc.1602C>G (p.Phe534Leu)
c.1677C>G (p.Phe559Leu)
c.1479C>G (p.Phe493Leu)
c.1041C>G (p.Phe347Leu)
n.1382C>G
c.1590C>G (p.Phe530Leu)
c.1155C>G (p.Phe385Leu)
c.1440C>G (p.Phe480Leu)
c.1599C>G (p.Phe533Leu)
c.1467C>G (p.Phe489Leu)
c.1629C>G (p.Phe543Leu)
c.1116C>G (p.Phe372Leu)
Xg.2935000G>TCA412275432ARSLc.1602C>A (p.Phe534Leu)
c.1677C>A (p.Phe559Leu)
c.1479C>A (p.Phe493Leu)
c.1041C>A (p.Phe347Leu)
n.1382C>A
c.1590C>A (p.Phe530Leu)
c.1155C>A (p.Phe385Leu)
c.1440C>A (p.Phe480Leu)
c.1599C>A (p.Phe533Leu)
c.1467C>A (p.Phe489Leu)
c.1629C>A (p.Phe543Leu)
c.1116C>A (p.Phe372Leu)
Xg.2935001A>CCA412275433ARSLc.1601T>G (p.Phe534Cys)
c.1676T>G (p.Phe559Cys)
c.1478T>G (p.Phe493Cys)
c.1040T>G (p.Phe347Cys)
n.1381T>G
c.1589T>G (p.Phe530Cys)
c.1154T>G (p.Phe385Cys)
c.1439T>G (p.Phe480Cys)
c.1598T>G (p.Phe533Cys)
c.1466T>G (p.Phe489Cys)
c.1628T>G (p.Phe543Cys)
c.1115T>G (p.Phe372Cys)
Xg.2935001A>GCA412275434ARSLc.1601T>C (p.Phe534Ser)
c.1676T>C (p.Phe559Ser)
c.1478T>C (p.Phe493Ser)
c.1040T>C (p.Phe347Ser)
n.1381T>C
c.1589T>C (p.Phe530Ser)
c.1154T>C (p.Phe385Ser)
c.1439T>C (p.Phe480Ser)
c.1598T>C (p.Phe533Ser)
c.1466T>C (p.Phe489Ser)
c.1628T>C (p.Phe543Ser)
c.1115T>C (p.Phe372Ser)
Xg.2935001A>TCA412275435ARSLc.1601T>A (p.Phe534Tyr)
c.1676T>A (p.Phe559Tyr)
c.1478T>A (p.Phe493Tyr)
c.1040T>A (p.Phe347Tyr)
n.1381T>A
c.1589T>A (p.Phe530Tyr)
c.1154T>A (p.Phe385Tyr)
c.1439T>A (p.Phe480Tyr)
c.1598T>A (p.Phe533Tyr)
c.1466T>A (p.Phe489Tyr)
c.1628T>A (p.Phe543Tyr)
c.1115T>A (p.Phe372Tyr)
Xg.2935002A>CCA412275436ARSLc.1600T>G (p.Phe534Val)
c.1675T>G (p.Phe559Val)
c.1477T>G (p.Phe493Val)
c.1039T>G (p.Phe347Val)
n.1380T>G
c.1588T>G (p.Phe530Val)
c.1153T>G (p.Phe385Val)
c.1438T>G (p.Phe480Val)
c.1597T>G (p.Phe533Val)
c.1465T>G (p.Phe489Val)
c.1627T>G (p.Phe543Val)
c.1114T>G (p.Phe372Val)
Xg.2935002A>GCA412275437ARSLc.1600T>C (p.Phe534Leu)
c.1675T>C (p.Phe559Leu)
c.1477T>C (p.Phe493Leu)
c.1039T>C (p.Phe347Leu)
n.1380T>C
c.1588T>C (p.Phe530Leu)
c.1153T>C (p.Phe385Leu)
c.1438T>C (p.Phe480Leu)
c.1597T>C (p.Phe533Leu)
c.1465T>C (p.Phe489Leu)
c.1627T>C (p.Phe543Leu)
c.1114T>C (p.Phe372Leu)
Xg.2935002A>TCA412275438ARSLc.1600T>A (p.Phe534Ile)
c.1675T>A (p.Phe559Ile)
c.1477T>A (p.Phe493Ile)
c.1039T>A (p.Phe347Ile)
n.1380T>A
c.1588T>A (p.Phe530Ile)
c.1153T>A (p.Phe385Ile)
c.1438T>A (p.Phe480Ile)
c.1597T>A (p.Phe533Ile)
c.1465T>A (p.Phe489Ile)
c.1627T>A (p.Phe543Ile)
c.1114T>A (p.Phe372Ile)
Xg.2935003C>ACA515396586ARSLc.1599G>T (p.Val533=)
c.1674G>T (p.Val558=)
c.1476G>T (p.Val492=)
c.1038G>T (p.Val346=)
n.1379G>T
c.1587G>T (p.Val529=)
c.1152G>T (p.Val384=)
c.1437G>T (p.Val479=)
c.1596G>T (p.Val532=)
c.1464G>T (p.Val488=)
c.1626G>T (p.Val542=)
c.1113G>T (p.Val371=)
Xg.2935003C>GCA515396587ARSLc.1599G>C (p.Val533=)
c.1674G>C (p.Val558=)
c.1476G>C (p.Val492=)
c.1038G>C (p.Val346=)
n.1379G>C
c.1587G>C (p.Val529=)
c.1152G>C (p.Val384=)
c.1437G>C (p.Val479=)
c.1596G>C (p.Val532=)
c.1464G>C (p.Val488=)
c.1626G>C (p.Val542=)
c.1113G>C (p.Val371=)
Xg.2935003C>TCA515396588ARSLc.1599G>A (p.Val533=)
c.1674G>A (p.Val558=)
c.1476G>A (p.Val492=)
c.1038G>A (p.Val346=)
n.1379G>A
c.1587G>A (p.Val529=)
c.1152G>A (p.Val384=)
c.1437G>A (p.Val479=)
c.1596G>A (p.Val532=)
c.1464G>A (p.Val488=)
c.1626G>A (p.Val542=)
c.1113G>A (p.Val371=)
Xg.2935004A>CCA412275439ARSLc.1598T>G (p.Val533Gly)
c.1673T>G (p.Val558Gly)
c.1475T>G (p.Val492Gly)
c.1037T>G (p.Val346Gly)
n.1378T>G
c.1586T>G (p.Val529Gly)
c.1151T>G (p.Val384Gly)
c.1436T>G (p.Val479Gly)
c.1595T>G (p.Val532Gly)
c.1463T>G (p.Val488Gly)
c.1625T>G (p.Val542Gly)
c.1112T>G (p.Val371Gly)
Xg.2935004A>GCA412275440ARSLc.1598T>C (p.Val533Ala)
c.1673T>C (p.Val558Ala)
c.1475T>C (p.Val492Ala)
c.1037T>C (p.Val346Ala)
n.1378T>C
c.1586T>C (p.Val529Ala)
c.1151T>C (p.Val384Ala)
c.1436T>C (p.Val479Ala)
c.1595T>C (p.Val532Ala)
c.1463T>C (p.Val488Ala)
c.1625T>C (p.Val542Ala)
c.1112T>C (p.Val371Ala)
Xg.2935004A>TCA412275441ARSLc.1598T>A (p.Val533Glu)
c.1673T>A (p.Val558Glu)
c.1475T>A (p.Val492Glu)
c.1037T>A (p.Val346Glu)
n.1378T>A
c.1586T>A (p.Val529Glu)
c.1151T>A (p.Val384Glu)
c.1436T>A (p.Val479Glu)
c.1595T>A (p.Val532Glu)
c.1463T>A (p.Val488Glu)
c.1625T>A (p.Val542Glu)
c.1112T>A (p.Val371Glu)
Xg.2935005C>ACA412275442ARSLc.1597G>T (p.Val533Leu)
c.1672G>T (p.Val558Leu)
c.1474G>T (p.Val492Leu)
c.1036G>T (p.Val346Leu)
n.1377G>T
c.1585G>T (p.Val529Leu)
c.1150G>T (p.Val384Leu)
c.1435G>T (p.Val479Leu)
c.1594G>T (p.Val532Leu)
c.1462G>T (p.Val488Leu)
c.1624G>T (p.Val542Leu)
c.1111G>T (p.Val371Leu)
 gnomAD v4
Xg.2935005C=CA2412580536ARSLc.1597G= (p.Val533=)
c.1672G= (p.Val558=)
c.1474G= (p.Val492=)
c.1036G= (p.Val346=)
n.1377G=
c.1585G= (p.Val529=)
c.1150G= (p.Val384=)
c.1435G= (p.Val479=)
c.1594G= (p.Val532=)
c.1462G= (p.Val488=)
c.1624G= (p.Val542=)
c.1111G= (p.Val371=)
Xg.2935005C>GCA412275443ARSLc.1597G>C (p.Val533Leu)
c.1672G>C (p.Val558Leu)
c.1474G>C (p.Val492Leu)
c.1036G>C (p.Val346Leu)
n.1377G>C
c.1585G>C (p.Val529Leu)
c.1150G>C (p.Val384Leu)
c.1435G>C (p.Val479Leu)
c.1594G>C (p.Val532Leu)
c.1462G>C (p.Val488Leu)
c.1624G>C (p.Val542Leu)
c.1111G>C (p.Val371Leu)
 gnomAD v4
Xg.2935005C>TCA10337984ARSLc.1597G>A (p.Val533Met)
c.1672G>A (p.Val558Met)
c.1474G>A (p.Val492Met)
c.1036G>A (p.Val346Met)
n.1377G>A
c.1585G>A (p.Val529Met)
c.1150G>A (p.Val384Met)
c.1435G>A (p.Val479Met)
c.1594G>A (p.Val532Met)
c.1462G>A (p.Val488Met)
c.1624G>A (p.Val542Met)
c.1111G>A (p.Val371Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.2935006G>ACA10337985ARSLc.1596C>T (p.Pro532=)
c.1671C>T (p.Pro557=)
c.1473C>T (p.Pro491=)
c.1035C>T (p.Pro345=)
n.1376C>T
c.1584C>T (p.Pro528=)
c.1149C>T (p.Pro383=)
c.1434C>T (p.Pro478=)
c.1593C>T (p.Pro531=)
c.1461C>T (p.Pro487=)
c.1623C>T (p.Pro541=)
c.1110C>T (p.Pro370=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.2935006G>CCA515396590ARSLc.1596C>G (p.Pro532=)
c.1671C>G (p.Pro557=)
c.1473C>G (p.Pro491=)
c.1035C>G (p.Pro345=)
n.1376C>G
c.1584C>G (p.Pro528=)
c.1149C>G (p.Pro383=)
c.1434C>G (p.Pro478=)
c.1593C>G (p.Pro531=)
c.1461C>G (p.Pro487=)
c.1623C>G (p.Pro541=)
c.1110C>G (p.Pro370=)
Xg.2935006G=CA2412580537ARSLc.1596C= (p.Pro532=)
c.1671C= (p.Pro557=)
c.1473C= (p.Pro491=)
c.1035C= (p.Pro345=)
n.1376C=
c.1584C= (p.Pro528=)
c.1149C= (p.Pro383=)
c.1434C= (p.Pro478=)
c.1593C= (p.Pro531=)
c.1461C= (p.Pro487=)
c.1623C= (p.Pro541=)
c.1110C= (p.Pro370=)
Xg.2935006G>TCA515396591ARSLc.1596C>A (p.Pro532=)
c.1671C>A (p.Pro557=)
c.1473C>A (p.Pro491=)
c.1035C>A (p.Pro345=)
n.1376C>A
c.1584C>A (p.Pro528=)
c.1149C>A (p.Pro383=)
c.1434C>A (p.Pro478=)
c.1593C>A (p.Pro531=)
c.1461C>A (p.Pro487=)
c.1623C>A (p.Pro541=)
c.1110C>A (p.Pro370=)
Xg.2935007G>ACA412275444ARSLc.1595C>T (p.Pro532Leu)
c.1670C>T (p.Pro557Leu)
c.1472C>T (p.Pro491Leu)
c.1034C>T (p.Pro345Leu)
n.1375C>T
c.1583C>T (p.Pro528Leu)
c.1148C>T (p.Pro383Leu)
c.1433C>T (p.Pro478Leu)
c.1592C>T (p.Pro531Leu)
c.1460C>T (p.Pro487Leu)
c.1622C>T (p.Pro541Leu)
c.1109C>T (p.Pro370Leu)
Xg.2935007G>CCA412275446ARSLc.1595C>G (p.Pro532Arg)
c.1670C>G (p.Pro557Arg)
c.1472C>G (p.Pro491Arg)
c.1034C>G (p.Pro345Arg)
n.1375C>G
c.1583C>G (p.Pro528Arg)
c.1148C>G (p.Pro383Arg)
c.1433C>G (p.Pro478Arg)
c.1592C>G (p.Pro531Arg)
c.1460C>G (p.Pro487Arg)
c.1622C>G (p.Pro541Arg)
c.1109C>G (p.Pro370Arg)
Xg.2935007G>TCA412275445ARSLc.1595C>A (p.Pro532His)
c.1670C>A (p.Pro557His)
c.1472C>A (p.Pro491His)
c.1034C>A (p.Pro345His)
n.1375C>A
c.1583C>A (p.Pro528His)
c.1148C>A (p.Pro383His)
c.1433C>A (p.Pro478His)
c.1592C>A (p.Pro531His)
c.1460C>A (p.Pro487His)
c.1622C>A (p.Pro541His)
c.1109C>A (p.Pro370His)
 gnomAD v4
Xg.2935008G>ACA412275447ARSLc.1594C>T (p.Pro532Ser)
c.1669C>T (p.Pro557Ser)
c.1471C>T (p.Pro491Ser)
c.1033C>T (p.Pro345Ser)
n.1374C>T
c.1582C>T (p.Pro528Ser)
c.1147C>T (p.Pro383Ser)
c.1432C>T (p.Pro478Ser)
c.1591C>T (p.Pro531Ser)
c.1459C>T (p.Pro487Ser)
c.1621C>T (p.Pro541Ser)
c.1108C>T (p.Pro370Ser)
Xg.2935008G>CCA412275449ARSLc.1594C>G (p.Pro532Ala)
c.1669C>G (p.Pro557Ala)
c.1471C>G (p.Pro491Ala)
c.1033C>G (p.Pro345Ala)
n.1374C>G
c.1582C>G (p.Pro528Ala)
c.1147C>G (p.Pro383Ala)
c.1432C>G (p.Pro478Ala)
c.1591C>G (p.Pro531Ala)
c.1459C>G (p.Pro487Ala)
c.1621C>G (p.Pro541Ala)
c.1108C>G (p.Pro370Ala)
Xg.2935008G>TCA412275448ARSLc.1594C>A (p.Pro532Thr)
c.1669C>A (p.Pro557Thr)
c.1471C>A (p.Pro491Thr)
c.1033C>A (p.Pro345Thr)
n.1374C>A
c.1582C>A (p.Pro528Thr)
c.1147C>A (p.Pro383Thr)
c.1432C>A (p.Pro478Thr)
c.1591C>A (p.Pro531Thr)
c.1459C>A (p.Pro487Thr)
c.1621C>A (p.Pro541Thr)
c.1108C>A (p.Pro370Thr)
Xg.2935009C>ACA412275450ARSLc.1593G>T (p.Glu531Asp)
c.1668G>T (p.Glu556Asp)
c.1470G>T (p.Glu490Asp)
c.1032G>T (p.Glu344Asp)
n.1373G>T
c.1581G>T (p.Glu527Asp)
c.1146G>T (p.Glu382Asp)
c.1431G>T (p.Glu477Asp)
c.1590G>T (p.Glu530Asp)
c.1458G>T (p.Glu486Asp)
c.1620G>T (p.Glu540Asp)
c.1107G>T (p.Glu369Asp)
Xg.2935009C=CA2412580538ARSLc.1593G= (p.Glu531=)
c.1668G= (p.Glu556=)
c.1470G= (p.Glu490=)
c.1032G= (p.Glu344=)
n.1373G=
c.1581G= (p.Glu527=)
c.1146G= (p.Glu382=)
c.1431G= (p.Glu477=)
c.1590G= (p.Glu530=)
c.1458G= (p.Glu486=)
c.1620G= (p.Glu540=)
c.1107G= (p.Glu369=)
Xg.2935009C>GCA412275451ARSLc.1593G>C (p.Glu531Asp)
c.1668G>C (p.Glu556Asp)
c.1470G>C (p.Glu490Asp)
c.1032G>C (p.Glu344Asp)
n.1373G>C
c.1581G>C (p.Glu527Asp)
c.1146G>C (p.Glu382Asp)
c.1431G>C (p.Glu477Asp)
c.1590G>C (p.Glu530Asp)
c.1458G>C (p.Glu486Asp)
c.1620G>C (p.Glu540Asp)
c.1107G>C (p.Glu369Asp)
Xg.2935009C>TCA10337986ARSLc.1593G>A (p.Glu531=)
c.1668G>A (p.Glu556=)
c.1470G>A (p.Glu490=)
c.1032G>A (p.Glu344=)
n.1373G>A
c.1581G>A (p.Glu527=)
c.1146G>A (p.Glu382=)
c.1431G>A (p.Glu477=)
c.1590G>A (p.Glu530=)
c.1458G>A (p.Glu486=)
c.1620G>A (p.Glu540=)
c.1107G>A (p.Glu369=)
 dbSNP ExAC gnomAD v4
Xg.2935010T>ACA412275452ARSLc.1592A>T (p.Glu531Val)
c.1667A>T (p.Glu556Val)
c.1469A>T (p.Glu490Val)
c.1031A>T (p.Glu344Val)
n.1372A>T
c.1580A>T (p.Glu527Val)
c.1145A>T (p.Glu382Val)
c.1430A>T (p.Glu477Val)
c.1589A>T (p.Glu530Val)
c.1457A>T (p.Glu486Val)
c.1619A>T (p.Glu540Val)
c.1106A>T (p.Glu369Val)
Xg.2935010T>CCA412275453ARSLc.1592A>G (p.Glu531Gly)
c.1667A>G (p.Glu556Gly)
c.1469A>G (p.Glu490Gly)
c.1031A>G (p.Glu344Gly)
n.1372A>G
c.1580A>G (p.Glu527Gly)
c.1145A>G (p.Glu382Gly)
c.1430A>G (p.Glu477Gly)
c.1589A>G (p.Glu530Gly)
c.1457A>G (p.Glu486Gly)
c.1619A>G (p.Glu540Gly)
c.1106A>G (p.Glu369Gly)
Xg.2935010T>GCA412275454ARSLc.1592A>C (p.Glu531Ala)
c.1667A>C (p.Glu556Ala)
c.1469A>C (p.Glu490Ala)
c.1031A>C (p.Glu344Ala)
n.1372A>C
c.1580A>C (p.Glu527Ala)
c.1145A>C (p.Glu382Ala)
c.1430A>C (p.Glu477Ala)
c.1589A>C (p.Glu530Ala)
c.1457A>C (p.Glu486Ala)
c.1619A>C (p.Glu540Ala)
c.1106A>C (p.Glu369Ala)
Xg.2935011C>ACA412275455ARSLc.1591G>T (p.Glu531Ter)
c.1666G>T (p.Glu556Ter)
c.1468G>T (p.Glu490Ter)
c.1030G>T (p.Glu344Ter)
n.1371G>T
c.1579G>T (p.Glu527Ter)
c.1144G>T (p.Glu382Ter)
c.1429G>T (p.Glu477Ter)
c.1588G>T (p.Glu530Ter)
c.1456G>T (p.Glu486Ter)
c.1618G>T (p.Glu540Ter)
c.1105G>T (p.Glu369Ter)
Xg.2935011C>GCA412275456ARSLc.1591G>C (p.Glu531Gln)
c.1666G>C (p.Glu556Gln)
c.1468G>C (p.Glu490Gln)
c.1030G>C (p.Glu344Gln)
n.1371G>C
c.1579G>C (p.Glu527Gln)
c.1144G>C (p.Glu382Gln)
c.1429G>C (p.Glu477Gln)
c.1588G>C (p.Glu530Gln)
c.1456G>C (p.Glu486Gln)
c.1618G>C (p.Glu540Gln)
c.1105G>C (p.Glu369Gln)
Xg.2935011C>TCA412275457ARSLc.1591G>A (p.Glu531Lys)
c.1666G>A (p.Glu556Lys)
c.1468G>A (p.Glu490Lys)
c.1030G>A (p.Glu344Lys)
n.1371G>A
c.1579G>A (p.Glu527Lys)
c.1144G>A (p.Glu382Lys)
c.1429G>A (p.Glu477Lys)
c.1588G>A (p.Glu530Lys)
c.1456G>A (p.Glu486Lys)
c.1618G>A (p.Glu540Lys)
c.1105G>A (p.Glu369Lys)
Xg.2935012T>ACA515396609ARSLc.1590A>T (p.Ser530=)
c.1665A>T (p.Ser555=)
c.1467A>T (p.Ser489=)
c.1029A>T (p.Ser343=)
n.1370A>T
c.1578A>T (p.Ser526=)
c.1143A>T (p.Ser381=)
c.1428A>T (p.Ser476=)
c.1587A>T (p.Ser529=)
c.1455A>T (p.Ser485=)
c.1617A>T (p.Ser539=)
c.1104A>T (p.Ser368=)
Xg.2935012T>CCA515396610ARSLc.1590A>G (p.Ser530=)
c.1665A>G (p.Ser555=)
c.1467A>G (p.Ser489=)
c.1029A>G (p.Ser343=)
n.1370A>G
c.1578A>G (p.Ser526=)
c.1143A>G (p.Ser381=)
c.1428A>G (p.Ser476=)
c.1587A>G (p.Ser529=)
c.1455A>G (p.Ser485=)
c.1617A>G (p.Ser539=)
c.1104A>G (p.Ser368=)
Xg.2935012T>GCA515396613ARSLc.1590A>C (p.Ser530=)
c.1665A>C (p.Ser555=)
c.1467A>C (p.Ser489=)
c.1029A>C (p.Ser343=)
n.1370A>C
c.1578A>C (p.Ser526=)
c.1143A>C (p.Ser381=)
c.1428A>C (p.Ser476=)
c.1587A>C (p.Ser529=)
c.1455A>C (p.Ser485=)
c.1617A>C (p.Ser539=)
c.1104A>C (p.Ser368=)
Xg.2935013G>ACA412275458ARSLc.1589C>T (p.Ser530Leu)
c.1664C>T (p.Ser555Leu)
c.1466C>T (p.Ser489Leu)
c.1028C>T (p.Ser343Leu)
n.1369C>T
c.1577C>T (p.Ser526Leu)
c.1142C>T (p.Ser381Leu)
c.1427C>T (p.Ser476Leu)
c.1586C>T (p.Ser529Leu)
c.1454C>T (p.Ser485Leu)
c.1616C>T (p.Ser539Leu)
c.1103C>T (p.Ser368Leu)
Xg.2935013G>CCA412275459ARSLc.1589C>G (p.Ser530Ter)
c.1664C>G (p.Ser555Ter)
c.1466C>G (p.Ser489Ter)
c.1028C>G (p.Ser343Ter)
n.1369C>G
c.1577C>G (p.Ser526Ter)
c.1142C>G (p.Ser381Ter)
c.1427C>G (p.Ser476Ter)
c.1586C>G (p.Ser529Ter)
c.1454C>G (p.Ser485Ter)
c.1616C>G (p.Ser539Ter)
c.1103C>G (p.Ser368Ter)
Xg.2935013G>TCA412275460ARSLc.1589C>A (p.Ser530Ter)
c.1664C>A (p.Ser555Ter)
c.1466C>A (p.Ser489Ter)
c.1028C>A (p.Ser343Ter)
n.1369C>A
c.1577C>A (p.Ser526Ter)
c.1142C>A (p.Ser381Ter)
c.1427C>A (p.Ser476Ter)
c.1586C>A (p.Ser529Ter)
c.1454C>A (p.Ser485Ter)
c.1616C>A (p.Ser539Ter)
c.1103C>A (p.Ser368Ter)
Xg.2935014A>CCA412275461ARSLc.1588T>G (p.Ser530Ala)
c.1663T>G (p.Ser555Ala)
c.1465T>G (p.Ser489Ala)
c.1027T>G (p.Ser343Ala)
n.1368T>G
c.1576T>G (p.Ser526Ala)
c.1141T>G (p.Ser381Ala)
c.1426T>G (p.Ser476Ala)
c.1585T>G (p.Ser529Ala)
c.1453T>G (p.Ser485Ala)
c.1615T>G (p.Ser539Ala)
c.1102T>G (p.Ser368Ala)
Xg.2935014A>GCA412275463ARSLc.1588T>C (p.Ser530Pro)
c.1663T>C (p.Ser555Pro)
c.1465T>C (p.Ser489Pro)
c.1027T>C (p.Ser343Pro)
n.1368T>C
c.1576T>C (p.Ser526Pro)
c.1141T>C (p.Ser381Pro)
c.1426T>C (p.Ser476Pro)
c.1585T>C (p.Ser529Pro)
c.1453T>C (p.Ser485Pro)
c.1615T>C (p.Ser539Pro)
c.1102T>C (p.Ser368Pro)
Xg.2935014A>TCA412275462ARSLc.1588T>A (p.Ser530Thr)
c.1663T>A (p.Ser555Thr)
c.1465T>A (p.Ser489Thr)
c.1027T>A (p.Ser343Thr)
n.1368T>A
c.1576T>A (p.Ser526Thr)
c.1141T>A (p.Ser381Thr)
c.1426T>A (p.Ser476Thr)
c.1585T>A (p.Ser529Thr)
c.1453T>A (p.Ser485Thr)
c.1615T>A (p.Ser539Thr)
c.1102T>A (p.Ser368Thr)
Xg.2935015G>ACA515396617ARSLc.1587C>T (p.Ala529=)
c.1662C>T (p.Ala554=)
c.1464C>T (p.Ala488=)
c.1026C>T (p.Ala342=)
n.1367C>T
c.1575C>T (p.Ala525=)
c.1140C>T (p.Ala380=)
c.1425C>T (p.Ala475=)
c.1584C>T (p.Ala528=)
c.1452C>T (p.Ala484=)
c.1614C>T (p.Ala538=)
c.1101C>T (p.Ala367=)
Xg.2935015G>CCA515396618ARSLc.1587C>G (p.Ala529=)
c.1662C>G (p.Ala554=)
c.1464C>G (p.Ala488=)
c.1026C>G (p.Ala342=)
n.1367C>G
c.1575C>G (p.Ala525=)
c.1140C>G (p.Ala380=)
c.1425C>G (p.Ala475=)
c.1584C>G (p.Ala528=)
c.1452C>G (p.Ala484=)
c.1614C>G (p.Ala538=)
c.1101C>G (p.Ala367=)
Xg.2935015G>TCA515396620ARSLc.1587C>A (p.Ala529=)
c.1662C>A (p.Ala554=)
c.1464C>A (p.Ala488=)
c.1026C>A (p.Ala342=)
n.1367C>A
c.1575C>A (p.Ala525=)
c.1140C>A (p.Ala380=)
c.1425C>A (p.Ala475=)
c.1584C>A (p.Ala528=)
c.1452C>A (p.Ala484=)
c.1614C>A (p.Ala538=)
c.1101C>A (p.Ala367=)
Xg.2935016G>ACA412275464ARSLc.1586C>T (p.Ala529Val)
c.1661C>T (p.Ala554Val)
c.1463C>T (p.Ala488Val)
c.1025C>T (p.Ala342Val)
n.1366C>T
c.1574C>T (p.Ala525Val)
c.1139C>T (p.Ala380Val)
c.1424C>T (p.Ala475Val)
c.1583C>T (p.Ala528Val)
c.1451C>T (p.Ala484Val)
c.1613C>T (p.Ala538Val)
c.1100C>T (p.Ala367Val)
Xg.2935016G>CCA412275465ARSLc.1586C>G (p.Ala529Gly)
c.1661C>G (p.Ala554Gly)
c.1463C>G (p.Ala488Gly)
c.1025C>G (p.Ala342Gly)
n.1366C>G
c.1574C>G (p.Ala525Gly)
c.1139C>G (p.Ala380Gly)
c.1424C>G (p.Ala475Gly)
c.1583C>G (p.Ala528Gly)
c.1451C>G (p.Ala484Gly)
c.1613C>G (p.Ala538Gly)
c.1100C>G (p.Ala367Gly)
Xg.2935016G>TCA412275466ARSLc.1586C>A (p.Ala529Asp)
c.1661C>A (p.Ala554Asp)
c.1463C>A (p.Ala488Asp)
c.1025C>A (p.Ala342Asp)
n.1366C>A
c.1574C>A (p.Ala525Asp)
c.1139C>A (p.Ala380Asp)
c.1424C>A (p.Ala475Asp)
c.1583C>A (p.Ala528Asp)
c.1451C>A (p.Ala484Asp)
c.1613C>A (p.Ala538Asp)
c.1100C>A (p.Ala367Asp)
Xg.2935017C>ACA412275467ARSLc.1585G>T (p.Ala529Ser)
c.1660G>T (p.Ala554Ser)
c.1462G>T (p.Ala488Ser)
c.1024G>T (p.Ala342Ser)
n.1365G>T
c.1573G>T (p.Ala525Ser)
c.1138G>T (p.Ala380Ser)
c.1423G>T (p.Ala475Ser)
c.1582G>T (p.Ala528Ser)
c.1450G>T (p.Ala484Ser)
c.1612G>T (p.Ala538Ser)
c.1099G>T (p.Ala367Ser)
Xg.2935017C>GCA412275468ARSLc.1585G>C (p.Ala529Pro)
c.1660G>C (p.Ala554Pro)
c.1462G>C (p.Ala488Pro)
c.1024G>C (p.Ala342Pro)
n.1365G>C
c.1573G>C (p.Ala525Pro)
c.1138G>C (p.Ala380Pro)
c.1423G>C (p.Ala475Pro)
c.1582G>C (p.Ala528Pro)
c.1450G>C (p.Ala484Pro)
c.1612G>C (p.Ala538Pro)
c.1099G>C (p.Ala367Pro)
Xg.2935017C>TCA412275469ARSLc.1585G>A (p.Ala529Thr)
c.1660G>A (p.Ala554Thr)
c.1462G>A (p.Ala488Thr)
c.1024G>A (p.Ala342Thr)
n.1365G>A
c.1573G>A (p.Ala525Thr)
c.1138G>A (p.Ala380Thr)
c.1423G>A (p.Ala475Thr)
c.1582G>A (p.Ala528Thr)
c.1450G>A (p.Ala484Thr)
c.1612G>A (p.Ala538Thr)
c.1099G>A (p.Ala367Thr)
Xg.2935018T>ACA515396624ARSLc.1584A>T (p.Pro528=)
c.1659A>T (p.Pro553=)
c.1461A>T (p.Pro487=)
c.1023A>T (p.Pro341=)
n.1364A>T
c.1572A>T (p.Pro524=)
c.1137A>T (p.Pro379=)
c.1422A>T (p.Pro474=)
c.1581A>T (p.Pro527=)
c.1449A>T (p.Pro483=)
c.1611A>T (p.Pro537=)
c.1098A>T (p.Pro366=)
Xg.2935018T>CCA515396625ARSLc.1584A>G (p.Pro528=)
c.1659A>G (p.Pro553=)
c.1461A>G (p.Pro487=)
c.1023A>G (p.Pro341=)
n.1364A>G
c.1572A>G (p.Pro524=)
c.1137A>G (p.Pro379=)
c.1422A>G (p.Pro474=)
c.1581A>G (p.Pro527=)
c.1449A>G (p.Pro483=)
c.1611A>G (p.Pro537=)
c.1098A>G (p.Pro366=)
Xg.2935018T>GCA515396626ARSLc.1584A>C (p.Pro528=)
c.1659A>C (p.Pro553=)
c.1461A>C (p.Pro487=)
c.1023A>C (p.Pro341=)
n.1364A>C
c.1572A>C (p.Pro524=)
c.1137A>C (p.Pro379=)
c.1422A>C (p.Pro474=)
c.1581A>C (p.Pro527=)
c.1449A>C (p.Pro483=)
c.1611A>C (p.Pro537=)
c.1098A>C (p.Pro366=)
Xg.2935019G>ACA412275470ARSLc.1583C>T (p.Pro528Leu)
c.1658C>T (p.Pro553Leu)
c.1460C>T (p.Pro487Leu)
c.1022C>T (p.Pro341Leu)
n.1363C>T
c.1571C>T (p.Pro524Leu)
c.1136C>T (p.Pro379Leu)
c.1421C>T (p.Pro474Leu)
c.1580C>T (p.Pro527Leu)
c.1448C>T (p.Pro483Leu)
c.1610C>T (p.Pro537Leu)
c.1097C>T (p.Pro366Leu)
Xg.2935019G>CCA412275471ARSLc.1583C>G (p.Pro528Arg)
c.1658C>G (p.Pro553Arg)
c.1460C>G (p.Pro487Arg)
c.1022C>G (p.Pro341Arg)
n.1363C>G
c.1571C>G (p.Pro524Arg)
c.1136C>G (p.Pro379Arg)
c.1421C>G (p.Pro474Arg)
c.1580C>G (p.Pro527Arg)
c.1448C>G (p.Pro483Arg)
c.1610C>G (p.Pro537Arg)
c.1097C>G (p.Pro366Arg)
 gnomAD v4
Xg.2935019G>TCA412275472ARSLc.1583C>A (p.Pro528Gln)
c.1658C>A (p.Pro553Gln)
c.1460C>A (p.Pro487Gln)
c.1022C>A (p.Pro341Gln)
n.1363C>A
c.1571C>A (p.Pro524Gln)
c.1136C>A (p.Pro379Gln)
c.1421C>A (p.Pro474Gln)
c.1580C>A (p.Pro527Gln)
c.1448C>A (p.Pro483Gln)
c.1610C>A (p.Pro537Gln)
c.1097C>A (p.Pro366Gln)
Xg.2935020G>ACA412275474ARSLc.1582C>T (p.Pro528Ser)
c.1657C>T (p.Pro553Ser)
c.1459C>T (p.Pro487Ser)
c.1021C>T (p.Pro341Ser)
n.1362C>T
c.1570C>T (p.Pro524Ser)
c.1135C>T (p.Pro379Ser)
c.1420C>T (p.Pro474Ser)
c.1579C>T (p.Pro527Ser)
c.1447C>T (p.Pro483Ser)
c.1609C>T (p.Pro537Ser)
c.1096C>T (p.Pro366Ser)
 gnomAD v4
Xg.2935020G>CCA412275475ARSLc.1582C>G (p.Pro528Ala)
c.1657C>G (p.Pro553Ala)
c.1459C>G (p.Pro487Ala)
c.1021C>G (p.Pro341Ala)
n.1362C>G
c.1570C>G (p.Pro524Ala)
c.1135C>G (p.Pro379Ala)
c.1420C>G (p.Pro474Ala)
c.1579C>G (p.Pro527Ala)
c.1447C>G (p.Pro483Ala)
c.1609C>G (p.Pro537Ala)
c.1096C>G (p.Pro366Ala)
Xg.2935020G>TCA412275473ARSLc.1582C>A (p.Pro528Thr)
c.1657C>A (p.Pro553Thr)
c.1459C>A (p.Pro487Thr)
c.1021C>A (p.Pro341Thr)
n.1362C>A
c.1570C>A (p.Pro524Thr)
c.1135C>A (p.Pro379Thr)
c.1420C>A (p.Pro474Thr)
c.1579C>A (p.Pro527Thr)
c.1447C>A (p.Pro483Thr)
c.1609C>A (p.Pro537Thr)
c.1096C>A (p.Pro366Thr)
Xg.2935021T>ACA515396633ARSLc.1581A>T (p.Thr527=)
c.1656A>T (p.Thr552=)
c.1458A>T (p.Thr486=)
c.1020A>T (p.Thr340=)
n.1361A>T
c.1569A>T (p.Thr523=)
c.1134A>T (p.Thr378=)
c.1419A>T (p.Thr473=)
c.1578A>T (p.Thr526=)
c.1446A>T (p.Thr482=)
c.1608A>T (p.Thr536=)
c.1095A>T (p.Thr365=)
Xg.2935021T>CCA10337987ARSLc.1581A>G (p.Thr527=)
c.1656A>G (p.Thr552=)
c.1458A>G (p.Thr486=)
c.1020A>G (p.Thr340=)
n.1361A>G
c.1569A>G (p.Thr523=)
c.1134A>G (p.Thr378=)
c.1419A>G (p.Thr473=)
c.1578A>G (p.Thr526=)
c.1446A>G (p.Thr482=)
c.1608A>G (p.Thr536=)
c.1095A>G (p.Thr365=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.2935021T>GCA515396632ARSLc.1581A>C (p.Thr527=)
c.1656A>C (p.Thr552=)
c.1458A>C (p.Thr486=)
c.1020A>C (p.Thr340=)
n.1361A>C
c.1569A>C (p.Thr523=)
c.1134A>C (p.Thr378=)
c.1419A>C (p.Thr473=)
c.1578A>C (p.Thr526=)
c.1446A>C (p.Thr482=)
c.1608A>C (p.Thr536=)
c.1095A>C (p.Thr365=)
Xg.2935021T=CA2412580539ARSLc.1581A= (p.Thr527=)
c.1656A= (p.Thr552=)
c.1458A= (p.Thr486=)
c.1020A= (p.Thr340=)
n.1361A=
c.1569A= (p.Thr523=)
c.1134A= (p.Thr378=)
c.1419A= (p.Thr473=)
c.1578A= (p.Thr526=)
c.1446A= (p.Thr482=)
c.1608A= (p.Thr536=)
c.1095A= (p.Thr365=)
Xg.2935022G>ACA412275476ARSLc.1580C>T (p.Thr527Ile)
c.1655C>T (p.Thr552Ile)
c.1457C>T (p.Thr486Ile)
c.1019C>T (p.Thr340Ile)
n.1360C>T
c.1568C>T (p.Thr523Ile)
c.1133C>T (p.Thr378Ile)
c.1418C>T (p.Thr473Ile)
c.1577C>T (p.Thr526Ile)
c.1445C>T (p.Thr482Ile)
c.1607C>T (p.Thr536Ile)
c.1094C>T (p.Thr365Ile)
 gnomAD v4
Xg.2935022G>CCA412275477ARSLc.1580C>G (p.Thr527Arg)
c.1655C>G (p.Thr552Arg)
c.1457C>G (p.Thr486Arg)
c.1019C>G (p.Thr340Arg)
n.1360C>G
c.1568C>G (p.Thr523Arg)
c.1133C>G (p.Thr378Arg)
c.1418C>G (p.Thr473Arg)
c.1577C>G (p.Thr526Arg)
c.1445C>G (p.Thr482Arg)
c.1607C>G (p.Thr536Arg)
c.1094C>G (p.Thr365Arg)
Xg.2935022G>TCA412275478ARSLc.1580C>A (p.Thr527Lys)
c.1655C>A (p.Thr552Lys)
c.1457C>A (p.Thr486Lys)
c.1019C>A (p.Thr340Lys)
n.1360C>A
c.1568C>A (p.Thr523Lys)
c.1133C>A (p.Thr378Lys)
c.1418C>A (p.Thr473Lys)
c.1577C>A (p.Thr526Lys)
c.1445C>A (p.Thr482Lys)
c.1607C>A (p.Thr536Lys)
c.1094C>A (p.Thr365Lys)
Xg.2935023T>ACA412275479ARSLc.1579A>T (p.Thr527Ser)
c.1654A>T (p.Thr552Ser)
c.1456A>T (p.Thr486Ser)
c.1018A>T (p.Thr340Ser)
n.1359A>T
c.1567A>T (p.Thr523Ser)
c.1132A>T (p.Thr378Ser)
c.1417A>T (p.Thr473Ser)
c.1576A>T (p.Thr526Ser)
c.1444A>T (p.Thr482Ser)
c.1606A>T (p.Thr536Ser)
c.1093A>T (p.Thr365Ser)
 dbSNP
Xg.2935023T>CCA412275480ARSLc.1579A>G (p.Thr527Ala)
c.1654A>G (p.Thr552Ala)
c.1456A>G (p.Thr486Ala)
c.1018A>G (p.Thr340Ala)
n.1359A>G
c.1567A>G (p.Thr523Ala)
c.1132A>G (p.Thr378Ala)
c.1417A>G (p.Thr473Ala)
c.1576A>G (p.Thr526Ala)
c.1444A>G (p.Thr482Ala)
c.1606A>G (p.Thr536Ala)
c.1093A>G (p.Thr365Ala)
Xg.2935023T>GCA412275481ARSLc.1579A>C (p.Thr527Pro)
c.1654A>C (p.Thr552Pro)
c.1456A>C (p.Thr486Pro)
c.1018A>C (p.Thr340Pro)
n.1359A>C
c.1567A>C (p.Thr523Pro)
c.1132A>C (p.Thr378Pro)
c.1417A>C (p.Thr473Pro)
c.1576A>C (p.Thr526Pro)
c.1444A>C (p.Thr482Pro)
c.1606A>C (p.Thr536Pro)
c.1093A>C (p.Thr365Pro)
Xg.2935023T=CA2412580540ARSLc.1579A= (p.Thr527=)
c.1654A= (p.Thr552=)
c.1456A= (p.Thr486=)
c.1018A= (p.Thr340=)
n.1359A=
c.1567A= (p.Thr523=)
c.1132A= (p.Thr378=)
c.1417A= (p.Thr473=)
c.1576A= (p.Thr526=)
c.1444A= (p.Thr482=)
c.1606A= (p.Thr536=)
c.1093A= (p.Thr365=)
Xg.2935024G>ACA515396638ARSLc.1578C>T (p.Leu526=)
c.1653C>T (p.Leu551=)
c.1455C>T (p.Leu485=)
c.1017C>T (p.Leu339=)
n.1358C>T
c.1566C>T (p.Leu522=)
c.1131C>T (p.Leu377=)
c.1416C>T (p.Leu472=)
c.1575C>T (p.Leu525=)
c.1443C>T (p.Leu481=)
c.1605C>T (p.Leu535=)
c.1092C>T (p.Leu364=)
Xg.2935024G>CCA515396637ARSLc.1578C>G (p.Leu526=)
c.1653C>G (p.Leu551=)
c.1455C>G (p.Leu485=)
c.1017C>G (p.Leu339=)
n.1358C>G
c.1566C>G (p.Leu522=)
c.1131C>G (p.Leu377=)
c.1416C>G (p.Leu472=)
c.1575C>G (p.Leu525=)
c.1443C>G (p.Leu481=)
c.1605C>G (p.Leu535=)
c.1092C>G (p.Leu364=)
Xg.2935024G>TCA515396636ARSLc.1578C>A (p.Leu526=)
c.1653C>A (p.Leu551=)
c.1455C>A (p.Leu485=)
c.1017C>A (p.Leu339=)
n.1358C>A
c.1566C>A (p.Leu522=)
c.1131C>A (p.Leu377=)
c.1416C>A (p.Leu472=)
c.1575C>A (p.Leu525=)
c.1443C>A (p.Leu481=)
c.1605C>A (p.Leu535=)
c.1092C>A (p.Leu364=)
Xg.2935025A>CCA412275482ARSLc.1577T>G (p.Leu526Arg)
c.1652T>G (p.Leu551Arg)
c.1454T>G (p.Leu485Arg)
c.1016T>G (p.Leu339Arg)
n.1357T>G
c.1565T>G (p.Leu522Arg)
c.1130T>G (p.Leu377Arg)
c.1415T>G (p.Leu472Arg)
c.1574T>G (p.Leu525Arg)
c.1442T>G (p.Leu481Arg)
c.1604T>G (p.Leu535Arg)
c.1091T>G (p.Leu364Arg)
Xg.2935025A>GCA412275484ARSLc.1577T>C (p.Leu526Pro)
c.1652T>C (p.Leu551Pro)
c.1454T>C (p.Leu485Pro)
c.1016T>C (p.Leu339Pro)
n.1357T>C
c.1565T>C (p.Leu522Pro)
c.1130T>C (p.Leu377Pro)
c.1415T>C (p.Leu472Pro)
c.1574T>C (p.Leu525Pro)
c.1442T>C (p.Leu481Pro)
c.1604T>C (p.Leu535Pro)
c.1091T>C (p.Leu364Pro)
Xg.2935025A>TCA412275483ARSLc.1577T>A (p.Leu526His)
c.1652T>A (p.Leu551His)
c.1454T>A (p.Leu485His)
c.1016T>A (p.Leu339His)
n.1357T>A
c.1565T>A (p.Leu522His)
c.1130T>A (p.Leu377His)
c.1415T>A (p.Leu472His)
c.1574T>A (p.Leu525His)
c.1442T>A (p.Leu481His)
c.1604T>A (p.Leu535His)
c.1091T>A (p.Leu364His)

Number of alleles fetched