Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.38903999G>ACA433336299SCN11Ac.1708C>T (p.Leu570=)
c.1528C>T (p.Leu510=)
c.1752C>T (n.1752C>T)
c.1045C>T (p.Leu349=)
c.256C>T (p.Leu86=)
c.2083C>T (p.Leu695=)
c.1510C>T (p.Leu504=)
c.1435C>T (p.Leu479=)
c.112C>T (p.Leu38=)
3g.38903999G>CCA352164677SCN11Ac.1708C>G (p.Leu570Val)
c.1528C>G (p.Leu510Val)
c.1752C>G (n.1752C>G)
c.1045C>G (p.Leu349Val)
c.256C>G (p.Leu86Val)
c.2083C>G (p.Leu695Val)
c.1510C>G (p.Leu504Val)
c.1435C>G (p.Leu479Val)
c.112C>G (p.Leu38Val)
 gnomAD v4
3g.38903999G>TCA352164679SCN11Ac.1708C>A (p.Leu570Met)
c.1528C>A (p.Leu510Met)
c.1752C>A (n.1752C>A)
c.1045C>A (p.Leu349Met)
c.256C>A (p.Leu86Met)
c.2083C>A (p.Leu695Met)
c.1510C>A (p.Leu504Met)
c.1435C>A (p.Leu479Met)
c.112C>A (p.Leu38Met)
3g.38904000G>ACA433336300SCN11Ac.1707C>T (p.Val569=)
c.1527C>T (p.Val509=)
c.1751C>T (n.1751C>T)
c.1044C>T (p.Val348=)
c.255C>T (p.Val85=)
c.2082C>T (p.Val694=)
c.1509C>T (p.Val503=)
c.1434C>T (p.Val478=)
c.111C>T (p.Val37=)
 dbSNP gnomAD v4
3g.38904000G>CCA433336301SCN11Ac.1707C>G (p.Val569=)
c.1527C>G (p.Val509=)
c.1751C>G (n.1751C>G)
c.1044C>G (p.Val348=)
c.255C>G (p.Val85=)
c.2082C>G (p.Val694=)
c.1509C>G (p.Val503=)
c.1434C>G (p.Val478=)
c.111C>G (p.Val37=)
3g.38904000G=CA1358721526SCN11Ac.1707C= (p.Val569=)
c.1527C= (p.Val509=)
c.1751C= (n.1751C=)
c.1044C= (p.Val348=)
c.255C= (p.Val85=)
c.2082C= (p.Val694=)
c.1509C= (p.Val503=)
c.1434C= (p.Val478=)
c.111C= (p.Val37=)
3g.38904000G>TCA433336302SCN11Ac.1707C>A (p.Val569=)
c.1527C>A (p.Val509=)
c.1751C>A (n.1751C>A)
c.1044C>A (p.Val348=)
c.255C>A (p.Val85=)
c.2082C>A (p.Val694=)
c.1509C>A (p.Val503=)
c.1434C>A (p.Val478=)
c.111C>A (p.Val37=)
3g.38904001A>CCA352164683SCN11Ac.1706T>G (p.Val569Gly)
c.1526T>G (p.Val509Gly)
c.1750T>G (n.1750T>G)
c.1043T>G (p.Val348Gly)
c.254T>G (p.Val85Gly)
c.2081T>G (p.Val694Gly)
c.1508T>G (p.Val503Gly)
c.1433T>G (p.Val478Gly)
c.110T>G (p.Val37Gly)
3g.38904001A>GCA352164686SCN11Ac.1706T>C (p.Val569Ala)
c.1526T>C (p.Val509Ala)
c.1750T>C (n.1750T>C)
c.1043T>C (p.Val348Ala)
c.254T>C (p.Val85Ala)
c.2081T>C (p.Val694Ala)
c.1508T>C (p.Val503Ala)
c.1433T>C (p.Val478Ala)
c.110T>C (p.Val37Ala)
 gnomAD v4
3g.38904001A>TCA352164689SCN11Ac.1706T>A (p.Val569Asp)
c.1526T>A (p.Val509Asp)
c.1750T>A (n.1750T>A)
c.1043T>A (p.Val348Asp)
c.254T>A (p.Val85Asp)
c.2081T>A (p.Val694Asp)
c.1508T>A (p.Val503Asp)
c.1433T>A (p.Val478Asp)
c.110T>A (p.Val37Asp)
3g.38904002C>ACA352164692SCN11Ac.1705G>T (p.Val569Phe)
c.1525G>T (p.Val509Phe)
c.1749G>T (n.1749G>T)
c.1042G>T (p.Val348Phe)
c.253G>T (p.Val85Phe)
c.2080G>T (p.Val694Phe)
c.1507G>T (p.Val503Phe)
c.1432G>T (p.Val478Phe)
c.109G>T (p.Val37Phe)
 dbSNP gnomAD v2
3g.38904002C=CA1358721528SCN11Ac.1705G= (p.Val569=)
c.1525G= (p.Val509=)
c.1749G= (n.1749G=)
c.1042G= (p.Val348=)
c.253G= (p.Val85=)
c.2080G= (p.Val694=)
c.1507G= (p.Val503=)
c.1432G= (p.Val478=)
c.109G= (p.Val37=)
3g.38904002C>GCA352164694SCN11Ac.1705G>C (p.Val569Leu)
c.1525G>C (p.Val509Leu)
c.1749G>C (n.1749G>C)
c.1042G>C (p.Val348Leu)
c.253G>C (p.Val85Leu)
c.2080G>C (p.Val694Leu)
c.1507G>C (p.Val503Leu)
c.1432G>C (p.Val478Leu)
c.109G>C (p.Val37Leu)
3g.38904002C>TCA352164697SCN11Ac.1705G>A (p.Val569Ile)
c.1525G>A (p.Val509Ile)
c.1749G>A (n.1749G>A)
c.1042G>A (p.Val348Ile)
c.253G>A (p.Val85Ile)
c.2080G>A (p.Val694Ile)
c.1507G>A (p.Val503Ile)
c.1432G>A (p.Val478Ile)
c.109G>A (p.Val37Ile)
3g.38904003C>ACA352164699SCN11Ac.1704G>T (p.Lys568Asn)
c.1524G>T (p.Lys508Asn)
c.1748G>T (n.1748G>T)
c.1041G>T (p.Lys347Asn)
c.252G>T (p.Lys84Asn)
c.2079G>T (p.Lys693Asn)
c.1506G>T (p.Lys502Asn)
c.1431G>T (p.Lys477Asn)
c.108G>T (p.Lys36Asn)
3g.38904003C>GCA352164701SCN11Ac.1704G>C (p.Lys568Asn)
c.1524G>C (p.Lys508Asn)
c.1748G>C (n.1748G>C)
c.1041G>C (p.Lys347Asn)
c.252G>C (p.Lys84Asn)
c.2079G>C (p.Lys693Asn)
c.1506G>C (p.Lys502Asn)
c.1431G>C (p.Lys477Asn)
c.108G>C (p.Lys36Asn)
3g.38904003C>TCA433336303SCN11Ac.1704G>A (p.Lys568=)
c.1524G>A (p.Lys508=)
c.1748G>A (n.1748G>A)
c.1041G>A (p.Lys347=)
c.252G>A (p.Lys84=)
c.2079G>A (p.Lys693=)
c.1506G>A (p.Lys502=)
c.1431G>A (p.Lys477=)
c.108G>A (p.Lys36=)
 gnomAD v4
3g.38904006_38904008delCA2580614213SCN11Ac.1702_1704del (p.Lys568del)
c.1522_1524del (p.Lys508del)
c.1746_1748del (n.1746_1748del)
c.1039_1041del (p.Lys347del)
c.250_252del (p.Lys84del)
c.2077_2079del (p.Lys693del)
c.1504_1506del (p.Lys502del)
c.1429_1431del (p.Lys477del)
c.106_108del (p.Lys36del)
 ClinVar dbSNP
3g.38904004T>ACA352164704SCN11Ac.1703A>T (p.Lys568Met)
c.1523A>T (p.Lys508Met)
c.1747A>T (n.1747A>T)
c.1040A>T (p.Lys347Met)
c.251A>T (p.Lys84Met)
c.2078A>T (p.Lys693Met)
c.1505A>T (p.Lys502Met)
c.1430A>T (p.Lys477Met)
c.107A>T (p.Lys36Met)
3g.38904004T>CCA352164706SCN11Ac.1703A>G (p.Lys568Arg)
c.1523A>G (p.Lys508Arg)
c.1747A>G (n.1747A>G)
c.1040A>G (p.Lys347Arg)
c.251A>G (p.Lys84Arg)
c.2078A>G (p.Lys693Arg)
c.1505A>G (p.Lys502Arg)
c.1430A>G (p.Lys477Arg)
c.107A>G (p.Lys36Arg)
3g.38904004T>GCA352164709SCN11Ac.1703A>C (p.Lys568Thr)
c.1523A>C (p.Lys508Thr)
c.1747A>C (n.1747A>C)
c.1040A>C (p.Lys347Thr)
c.251A>C (p.Lys84Thr)
c.2078A>C (p.Lys693Thr)
c.1505A>C (p.Lys502Thr)
c.1430A>C (p.Lys477Thr)
c.107A>C (p.Lys36Thr)
3g.38904005T>ACA352164713SCN11Ac.1702A>T (p.Lys568Ter)
c.1522A>T (p.Lys508Ter)
c.1746A>T (n.1746A>T)
c.1039A>T (p.Lys347Ter)
c.250A>T (p.Lys84Ter)
c.2077A>T (p.Lys693Ter)
c.1504A>T (p.Lys502Ter)
c.1429A>T (p.Lys477Ter)
c.106A>T (p.Lys36Ter)
 dbSNP
3g.38904005T>CCA352164711SCN11Ac.1702A>G (p.Lys568Glu)
c.1522A>G (p.Lys508Glu)
c.1746A>G (n.1746A>G)
c.1039A>G (p.Lys347Glu)
c.250A>G (p.Lys84Glu)
c.2077A>G (p.Lys693Glu)
c.1504A>G (p.Lys502Glu)
c.1429A>G (p.Lys477Glu)
c.106A>G (p.Lys36Glu)
 gnomAD v4
3g.38904005T>GCA352164710SCN11Ac.1702A>C (p.Lys568Gln)
c.1522A>C (p.Lys508Gln)
c.1746A>C (n.1746A>C)
c.1039A>C (p.Lys347Gln)
c.250A>C (p.Lys84Gln)
c.2077A>C (p.Lys693Gln)
c.1504A>C (p.Lys502Gln)
c.1429A>C (p.Lys477Gln)
c.106A>C (p.Lys36Gln)
3g.38904005T=CA1358721531SCN11Ac.1702A= (p.Lys568=)
c.1522A= (p.Lys508=)
c.1746A= (n.1746A=)
c.1039A= (p.Lys347=)
c.250A= (p.Lys84=)
c.2077A= (p.Lys693=)
c.1504A= (p.Lys502=)
c.1429A= (p.Lys477=)
c.106A= (p.Lys36=)
3g.38904006C>ACA352164714SCN11Ac.1701G>T (p.Lys567Asn)
c.1521G>T (p.Lys507Asn)
c.1745G>T (n.1745G>T)
c.1038G>T (p.Lys346Asn)
c.249G>T (p.Lys83Asn)
c.2076G>T (p.Lys692Asn)
c.1503G>T (p.Lys501Asn)
c.1428G>T (p.Lys476Asn)
c.105G>T (p.Lys35Asn)
3g.38904006C>GCA352164715SCN11Ac.1701G>C (p.Lys567Asn)
c.1521G>C (p.Lys507Asn)
c.1745G>C (n.1745G>C)
c.1038G>C (p.Lys346Asn)
c.249G>C (p.Lys83Asn)
c.2076G>C (p.Lys692Asn)
c.1503G>C (p.Lys501Asn)
c.1428G>C (p.Lys476Asn)
c.105G>C (p.Lys35Asn)
3g.38904006C>TCA433336304SCN11Ac.1701G>A (p.Lys567=)
c.1521G>A (p.Lys507=)
c.1745G>A (n.1745G>A)
c.1038G>A (p.Lys346=)
c.249G>A (p.Lys83=)
c.2076G>A (p.Lys692=)
c.1503G>A (p.Lys501=)
c.1428G>A (p.Lys476=)
c.105G>A (p.Lys35=)
 COSMIC
3g.38904007T>ACA352164716SCN11Ac.1700A>T (p.Lys567Met)
c.1520A>T (p.Lys507Met)
c.1744A>T (n.1744A>T)
c.1037A>T (p.Lys346Met)
c.248A>T (p.Lys83Met)
c.2075A>T (p.Lys692Met)
c.1502A>T (p.Lys501Met)
c.1427A>T (p.Lys476Met)
c.104A>T (p.Lys35Met)
3g.38904007T>CCA352164717SCN11Ac.1700A>G (p.Lys567Arg)
c.1520A>G (p.Lys507Arg)
c.1744A>G (n.1744A>G)
c.1037A>G (p.Lys346Arg)
c.248A>G (p.Lys83Arg)
c.2075A>G (p.Lys692Arg)
c.1502A>G (p.Lys501Arg)
c.1427A>G (p.Lys476Arg)
c.104A>G (p.Lys35Arg)
3g.38904007T>GCA352164718SCN11Ac.1700A>C (p.Lys567Thr)
c.1520A>C (p.Lys507Thr)
c.1744A>C (n.1744A>C)
c.1037A>C (p.Lys346Thr)
c.248A>C (p.Lys83Thr)
c.2075A>C (p.Lys692Thr)
c.1502A>C (p.Lys501Thr)
c.1427A>C (p.Lys476Thr)
c.104A>C (p.Lys35Thr)
3g.38904008T>ACA352164719SCN11Ac.1699A>T (p.Lys567Ter)
c.1519A>T (p.Lys507Ter)
c.1743A>T (n.1743A>T)
c.1036A>T (p.Lys346Ter)
c.247A>T (p.Lys83Ter)
c.2074A>T (p.Lys692Ter)
c.1501A>T (p.Lys501Ter)
c.1426A>T (p.Lys476Ter)
c.103A>T (p.Lys35Ter)
 dbSNP
3g.38904008T>CCA352164720SCN11Ac.1699A>G (p.Lys567Glu)
c.1519A>G (p.Lys507Glu)
c.1743A>G (n.1743A>G)
c.1036A>G (p.Lys346Glu)
c.247A>G (p.Lys83Glu)
c.2074A>G (p.Lys692Glu)
c.1501A>G (p.Lys501Glu)
c.1426A>G (p.Lys476Glu)
c.103A>G (p.Lys35Glu)
3g.38904008T>GCA352164721SCN11Ac.1699A>C (p.Lys567Gln)
c.1519A>C (p.Lys507Gln)
c.1743A>C (n.1743A>C)
c.1036A>C (p.Lys346Gln)
c.247A>C (p.Lys83Gln)
c.2074A>C (p.Lys692Gln)
c.1501A>C (p.Lys501Gln)
c.1426A>C (p.Lys476Gln)
c.103A>C (p.Lys35Gln)
3g.38904008T=CA1358721534SCN11Ac.1699A= (p.Lys567=)
c.1519A= (p.Lys507=)
c.1743A= (n.1743A=)
c.1036A= (p.Lys346=)
c.247A= (p.Lys83=)
c.2074A= (p.Lys692=)
c.1501A= (p.Lys501=)
c.1426A= (p.Lys476=)
c.103A= (p.Lys35=)
3g.38904009A>CCA433336305SCN11Ac.1698T>G (p.Val566=)
c.1518T>G (p.Val506=)
c.1742T>G (n.1742T>G)
c.1035T>G (p.Val345=)
c.246T>G (p.Val82=)
c.2073T>G (p.Val691=)
c.1500T>G (p.Val500=)
c.1425T>G (p.Val475=)
c.102T>G (p.Val34=)
3g.38904009A>GCA433336307SCN11Ac.1698T>C (p.Val566=)
c.1518T>C (p.Val506=)
c.1742T>C (n.1742T>C)
c.1035T>C (p.Val345=)
c.246T>C (p.Val82=)
c.2073T>C (p.Val691=)
c.1500T>C (p.Val500=)
c.1425T>C (p.Val475=)
c.102T>C (p.Val34=)
3g.38904009A>TCA433336306SCN11Ac.1698T>A (p.Val566=)
c.1518T>A (p.Val506=)
c.1742T>A (n.1742T>A)
c.1035T>A (p.Val345=)
c.246T>A (p.Val82=)
c.2073T>A (p.Val691=)
c.1500T>A (p.Val500=)
c.1425T>A (p.Val475=)
c.102T>A (p.Val34=)
3g.38904010A=CA1358721535SCN11Ac.1697T= (p.Val566=)
c.1517T= (p.Val506=)
c.1741T= (n.1741T=)
c.1034T= (p.Val345=)
c.245T= (p.Val82=)
c.2072T= (p.Val691=)
c.1499T= (p.Val500=)
c.1424T= (p.Val475=)
c.101T= (p.Val34=)
3g.38904010A>CCA352164722SCN11Ac.1697T>G (p.Val566Gly)
c.1517T>G (p.Val506Gly)
c.1741T>G (n.1741T>G)
c.1034T>G (p.Val345Gly)
c.245T>G (p.Val82Gly)
c.2072T>G (p.Val691Gly)
c.1499T>G (p.Val500Gly)
c.1424T>G (p.Val475Gly)
c.101T>G (p.Val34Gly)
 dbSNP gnomAD v2
3g.38904010A>GCA352164723SCN11Ac.1697T>C (p.Val566Ala)
c.1517T>C (p.Val506Ala)
c.1741T>C (n.1741T>C)
c.1034T>C (p.Val345Ala)
c.245T>C (p.Val82Ala)
c.2072T>C (p.Val691Ala)
c.1499T>C (p.Val500Ala)
c.1424T>C (p.Val475Ala)
c.101T>C (p.Val34Ala)
3g.38904010A>TCA352164724SCN11Ac.1697T>A (p.Val566Asp)
c.1517T>A (p.Val506Asp)
c.1741T>A (n.1741T>A)
c.1034T>A (p.Val345Asp)
c.245T>A (p.Val82Asp)
c.2072T>A (p.Val691Asp)
c.1499T>A (p.Val500Asp)
c.1424T>A (p.Val475Asp)
c.101T>A (p.Val34Asp)
3g.38904011C>ACA352164725SCN11Ac.1696G>T (p.Val566Phe)
c.1516G>T (p.Val506Phe)
c.1740G>T (n.1740G>T)
c.1033G>T (p.Val345Phe)
c.244G>T (p.Val82Phe)
c.2071G>T (p.Val691Phe)
c.1498G>T (p.Val500Phe)
c.1423G>T (p.Val475Phe)
c.100G>T (p.Val34Phe)
 gnomAD v4
3g.38904011C=CA1358721539SCN11Ac.1696G= (p.Val566=)
c.1516G= (p.Val506=)
c.1740G= (n.1740G=)
c.1033G= (p.Val345=)
c.244G= (p.Val82=)
c.2071G= (p.Val691=)
c.1498G= (p.Val500=)
c.1423G= (p.Val475=)
c.100G= (p.Val34=)
3g.38904011C>GCA352164726SCN11Ac.1696G>C (p.Val566Leu)
c.1516G>C (p.Val506Leu)
c.1740G>C (n.1740G>C)
c.1033G>C (p.Val345Leu)
c.244G>C (p.Val82Leu)
c.2071G>C (p.Val691Leu)
c.1498G>C (p.Val500Leu)
c.1423G>C (p.Val475Leu)
c.100G>C (p.Val34Leu)
3g.38904011C>TCA2322228SCN11Ac.1696G>A (p.Val566Ile)
c.1516G>A (p.Val506Ile)
c.1740G>A (n.1740G>A)
c.1033G>A (p.Val345Ile)
c.244G>A (p.Val82Ile)
c.2071G>A (p.Val691Ile)
c.1498G>A (p.Val500Ile)
c.1423G>A (p.Val475Ile)
c.100G>A (p.Val34Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.38904012G>ACA433336308SCN11Ac.1695C>T (p.Cys565=)
c.1515C>T (p.Cys505=)
c.1739C>T (n.1739C>T)
c.1032C>T (p.Cys344=)
c.243C>T (p.Cys81=)
c.2070C>T (p.Cys690=)
c.1497C>T (p.Cys499=)
c.1422C>T (p.Cys474=)
c.99C>T (p.Cys33=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38904012G>CCA352164728SCN11Ac.1695C>G (p.Cys565Trp)
c.1515C>G (p.Cys505Trp)
c.1739C>G (n.1739C>G)
c.1032C>G (p.Cys344Trp)
c.243C>G (p.Cys81Trp)
c.2070C>G (p.Cys690Trp)
c.1497C>G (p.Cys499Trp)
c.1422C>G (p.Cys474Trp)
c.99C>G (p.Cys33Trp)
3g.38904012G=CA1358721547SCN11Ac.1695C= (p.Cys565=)
c.1515C= (p.Cys505=)
c.1739C= (n.1739C=)
c.1032C= (p.Cys344=)
c.243C= (p.Cys81=)
c.2070C= (p.Cys690=)
c.1497C= (p.Cys499=)
c.1422C= (p.Cys474=)
c.99C= (p.Cys33=)
3g.38904012G>TCA352164727SCN11Ac.1695C>A (p.Cys565Ter)
c.1515C>A (p.Cys505Ter)
c.1739C>A (n.1739C>A)
c.1032C>A (p.Cys344Ter)
c.243C>A (p.Cys81Ter)
c.2070C>A (p.Cys690Ter)
c.1497C>A (p.Cys499Ter)
c.1422C>A (p.Cys474Ter)
c.99C>A (p.Cys33Ter)
 dbSNP
3g.38904013C>ACA352164729SCN11Ac.1694G>T (p.Cys565Phe)
c.1514G>T (p.Cys505Phe)
c.1738G>T (n.1738G>T)
c.1031G>T (p.Cys344Phe)
c.242G>T (p.Cys81Phe)
c.2069G>T (p.Cys690Phe)
c.1496G>T (p.Cys499Phe)
c.1421G>T (p.Cys474Phe)
c.98G>T (p.Cys33Phe)
3g.38904013C>GCA352164730SCN11Ac.1694G>C (p.Cys565Ser)
c.1514G>C (p.Cys505Ser)
c.1738G>C (n.1738G>C)
c.1031G>C (p.Cys344Ser)
c.242G>C (p.Cys81Ser)
c.2069G>C (p.Cys690Ser)
c.1496G>C (p.Cys499Ser)
c.1421G>C (p.Cys474Ser)
c.98G>C (p.Cys33Ser)
3g.38904013C>TCA352164731SCN11Ac.1694G>A (p.Cys565Tyr)
c.1514G>A (p.Cys505Tyr)
c.1738G>A (n.1738G>A)
c.1031G>A (p.Cys344Tyr)
c.242G>A (p.Cys81Tyr)
c.2069G>A (p.Cys690Tyr)
c.1496G>A (p.Cys499Tyr)
c.1421G>A (p.Cys474Tyr)
c.98G>A (p.Cys33Tyr)
3g.38904014A>CCA352164732SCN11Ac.1693T>G (p.Cys565Gly)
c.1513T>G (p.Cys505Gly)
c.1737T>G (n.1737T>G)
c.1030T>G (p.Cys344Gly)
c.241T>G (p.Cys81Gly)
c.2068T>G (p.Cys690Gly)
c.1495T>G (p.Cys499Gly)
c.1420T>G (p.Cys474Gly)
c.97T>G (p.Cys33Gly)
3g.38904014A>GCA352164733SCN11Ac.1693T>C (p.Cys565Arg)
c.1513T>C (p.Cys505Arg)
c.1737T>C (n.1737T>C)
c.1030T>C (p.Cys344Arg)
c.241T>C (p.Cys81Arg)
c.2068T>C (p.Cys690Arg)
c.1495T>C (p.Cys499Arg)
c.1420T>C (p.Cys474Arg)
c.97T>C (p.Cys33Arg)
3g.38904014A>TCA352164734SCN11Ac.1693T>A (p.Cys565Ser)
c.1513T>A (p.Cys505Ser)
c.1737T>A (n.1737T>A)
c.1030T>A (p.Cys344Ser)
c.241T>A (p.Cys81Ser)
c.2068T>A (p.Cys690Ser)
c.1495T>A (p.Cys499Ser)
c.1420T>A (p.Cys474Ser)
c.97T>A (p.Cys33Ser)
3g.38904015C>ACA433336309SCN11Ac.1692G>T (p.Leu564=)
c.1512G>T (p.Leu504=)
c.1736G>T (n.1736G>T)
c.1029G>T (p.Leu343=)
c.240G>T (p.Leu80=)
c.2067G>T (p.Leu689=)
c.1494G>T (p.Leu498=)
c.1419G>T (p.Leu473=)
c.96G>T (p.Leu32=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38904015C=CA1358721551SCN11Ac.1692G= (p.Leu564=)
c.1512G= (p.Leu504=)
c.1736G= (n.1736G=)
c.1029G= (p.Leu343=)
c.240G= (p.Leu80=)
c.2067G= (p.Leu689=)
c.1494G= (p.Leu498=)
c.1419G= (p.Leu473=)
c.96G= (p.Leu32=)
3g.38904015C>GCA433336310SCN11Ac.1692G>C (p.Leu564=)
c.1512G>C (p.Leu504=)
c.1736G>C (n.1736G>C)
c.1029G>C (p.Leu343=)
c.240G>C (p.Leu80=)
c.2067G>C (p.Leu689=)
c.1494G>C (p.Leu498=)
c.1419G>C (p.Leu473=)
c.96G>C (p.Leu32=)
3g.38904015C>TCA433336311SCN11Ac.1692G>A (p.Leu564=)
c.1512G>A (p.Leu504=)
c.1736G>A (n.1736G>A)
c.1029G>A (p.Leu343=)
c.240G>A (p.Leu80=)
c.2067G>A (p.Leu689=)
c.1494G>A (p.Leu498=)
c.1419G>A (p.Leu473=)
c.96G>A (p.Leu32=)
 gnomAD v4
3g.38904016A>CCA352164737SCN11Ac.1691T>G (p.Leu564Arg)
c.1511T>G (p.Leu504Arg)
c.1735T>G (n.1735T>G)
c.1028T>G (p.Leu343Arg)
c.239T>G (p.Leu80Arg)
c.2066T>G (p.Leu689Arg)
c.1493T>G (p.Leu498Arg)
c.1418T>G (p.Leu473Arg)
c.95T>G (p.Leu32Arg)
 gnomAD v4
3g.38904016A>GCA352164735SCN11Ac.1691T>C (p.Leu564Pro)
c.1511T>C (p.Leu504Pro)
c.1735T>C (n.1735T>C)
c.1028T>C (p.Leu343Pro)
c.239T>C (p.Leu80Pro)
c.2066T>C (p.Leu689Pro)
c.1493T>C (p.Leu498Pro)
c.1418T>C (p.Leu473Pro)
c.95T>C (p.Leu32Pro)
3g.38904016A>TCA352164736SCN11Ac.1691T>A (p.Leu564Gln)
c.1511T>A (p.Leu504Gln)
c.1735T>A (n.1735T>A)
c.1028T>A (p.Leu343Gln)
c.239T>A (p.Leu80Gln)
c.2066T>A (p.Leu689Gln)
c.1493T>A (p.Leu498Gln)
c.1418T>A (p.Leu473Gln)
c.95T>A (p.Leu32Gln)
3g.38904016_38904026delinsAGCCACTGGGGCA1358721555SCN11Ac.1681_1691delinsCCCCAGTGGCT (p.Pro561=)
c.1501_1511delinsCCCCAGTGGCT (p.Pro501=)
c.1725_1735delinsCCCCAGTGGCT (n.1725_1735delinsCCCCAGTGGCT)
c.1018_1028delinsCCCCAGTGGCT (p.Pro340=)
c.229_239delinsCCCCAGTGGCT (p.Pro77=)
c.2056_2066delinsCCCCAGTGGCT (p.Pro686=)
c.1483_1493delinsCCCCAGTGGCT (p.Pro495=)
c.1408_1418delinsCCCCAGTGGCT (p.Pro470=)
c.85_95delinsCCCCAGTGGCT (p.Pro29=)
3g.38904017G>ACA433336312SCN11Ac.1690C>T (p.Leu564=)
c.1510C>T (p.Leu504=)
c.1734C>T (n.1734C>T)
c.1027C>T (p.Leu343=)
c.238C>T (p.Leu80=)
c.2065C>T (p.Leu689=)
c.1492C>T (p.Leu498=)
c.1417C>T (p.Leu473=)
c.94C>T (p.Leu32=)
 gnomAD v4
3g.38904017G>CCA352164738SCN11Ac.1690C>G (p.Leu564Val)
c.1510C>G (p.Leu504Val)
c.1734C>G (n.1734C>G)
c.1027C>G (p.Leu343Val)
c.238C>G (p.Leu80Val)
c.2065C>G (p.Leu689Val)
c.1492C>G (p.Leu498Val)
c.1417C>G (p.Leu473Val)
c.94C>G (p.Leu32Val)
3g.38904017G>TCA352164739SCN11Ac.1690C>A (p.Leu564Met)
c.1510C>A (p.Leu504Met)
c.1734C>A (n.1734C>A)
c.1027C>A (p.Leu343Met)
c.238C>A (p.Leu80Met)
c.2065C>A (p.Leu689Met)
c.1492C>A (p.Leu498Met)
c.1417C>A (p.Leu473Met)
c.94C>A (p.Leu32Met)
3g.38904019_38904028dupCA1358721558SCN11Ac.1681_1690dup (p.Leu564ProfsTer7)
c.1501_1510dup (p.Leu504ProfsTer7)
c.1725_1734dup (n.1725_1734dup)
c.1018_1027dup (p.Leu343ProfsTer7)
c.229_238dup (p.Leu80ProfsTer7)
c.2056_2065dup (p.Leu689ProfsTer7)
c.1483_1492dup (p.Leu498ProfsTer7)
c.1408_1417dup (p.Leu473ProfsTer7)
c.85_94dup (p.Leu32ProfsTer7)
 dbSNP
3g.38904019_38904028delCA906912664SCN11Ac.1681_1690del (p.Pro561CysfsTer7)
c.1501_1510del (p.Pro501CysfsTer7)
c.1725_1734del (n.1725_1734del)
c.1018_1027del (p.Pro340CysfsTer7)
c.229_238del (p.Pro77CysfsTer7)
c.2056_2065del (p.Pro686CysfsTer7)
c.1483_1492del (p.Pro495CysfsTer7)
c.1408_1417del (p.Pro470CysfsTer7)
c.85_94del (p.Pro29CysfsTer7)
 dbSNP
3g.38904018C>ACA352164740SCN11Ac.1689G>T (p.Trp563Cys)
c.1509G>T (p.Trp503Cys)
c.1733G>T (n.1733G>T)
c.1026G>T (p.Trp342Cys)
c.237G>T (p.Trp79Cys)
c.2064G>T (p.Trp688Cys)
c.1491G>T (p.Trp497Cys)
c.1416G>T (p.Trp472Cys)
c.93G>T (p.Trp31Cys)
3g.38904018C=CA1358721561SCN11Ac.1689G= (p.Trp563=)
c.1509G= (p.Trp503=)
c.1733G= (n.1733G=)
c.1026G= (p.Trp342=)
c.237G= (p.Trp79=)
c.2064G= (p.Trp688=)
c.1491G= (p.Trp497=)
c.1416G= (p.Trp472=)
c.93G= (p.Trp31=)
3g.38904018C>GCA352164741SCN11Ac.1689G>C (p.Trp563Cys)
c.1509G>C (p.Trp503Cys)
c.1733G>C (n.1733G>C)
c.1026G>C (p.Trp342Cys)
c.237G>C (p.Trp79Cys)
c.2064G>C (p.Trp688Cys)
c.1491G>C (p.Trp497Cys)
c.1416G>C (p.Trp472Cys)
c.93G>C (p.Trp31Cys)
3g.38904018C>TCA352164742SCN11Ac.1689G>A (p.Trp563Ter)
c.1509G>A (p.Trp503Ter)
c.1733G>A (n.1733G>A)
c.1026G>A (p.Trp342Ter)
c.237G>A (p.Trp79Ter)
c.2064G>A (p.Trp688Ter)
c.1491G>A (p.Trp497Ter)
c.1416G>A (p.Trp472Ter)
c.93G>A (p.Trp31Ter)
 dbSNP
3g.38904019C>ACA352164743SCN11Ac.1688G>T (p.Trp563Leu)
c.1508G>T (p.Trp503Leu)
c.1732G>T (n.1732G>T)
c.1025G>T (p.Trp342Leu)
c.236G>T (p.Trp79Leu)
c.2063G>T (p.Trp688Leu)
c.1490G>T (p.Trp497Leu)
c.1415G>T (p.Trp472Leu)
c.92G>T (p.Trp31Leu)
3g.38904019C>GCA352164745SCN11Ac.1688G>C (p.Trp563Ser)
c.1508G>C (p.Trp503Ser)
c.1732G>C (n.1732G>C)
c.1025G>C (p.Trp342Ser)
c.236G>C (p.Trp79Ser)
c.2063G>C (p.Trp688Ser)
c.1490G>C (p.Trp497Ser)
c.1415G>C (p.Trp472Ser)
c.92G>C (p.Trp31Ser)
3g.38904019C>TCA352164744SCN11Ac.1688G>A (p.Trp563Ter)
c.1508G>A (p.Trp503Ter)
c.1732G>A (n.1732G>A)
c.1025G>A (p.Trp342Ter)
c.236G>A (p.Trp79Ter)
c.2063G>A (p.Trp688Ter)
c.1490G>A (p.Trp497Ter)
c.1415G>A (p.Trp472Ter)
c.92G>A (p.Trp31Ter)
3g.38904020A>CCA352164746SCN11Ac.1687T>G (p.Trp563Gly)
c.1507T>G (p.Trp503Gly)
c.1731T>G (n.1731T>G)
c.1024T>G (p.Trp342Gly)
c.235T>G (p.Trp79Gly)
c.2062T>G (p.Trp688Gly)
c.1489T>G (p.Trp497Gly)
c.1414T>G (p.Trp472Gly)
c.91T>G (p.Trp31Gly)
3g.38904020A>GCA352164747SCN11Ac.1687T>C (p.Trp563Arg)
c.1507T>C (p.Trp503Arg)
c.1731T>C (n.1731T>C)
c.1024T>C (p.Trp342Arg)
c.235T>C (p.Trp79Arg)
c.2062T>C (p.Trp688Arg)
c.1489T>C (p.Trp497Arg)
c.1414T>C (p.Trp472Arg)
c.91T>C (p.Trp31Arg)
3g.38904020A>TCA352164748SCN11Ac.1687T>A (p.Trp563Arg)
c.1507T>A (p.Trp503Arg)
c.1731T>A (n.1731T>A)
c.1024T>A (p.Trp342Arg)
c.235T>A (p.Trp79Arg)
c.2062T>A (p.Trp688Arg)
c.1489T>A (p.Trp497Arg)
c.1414T>A (p.Trp472Arg)
c.91T>A (p.Trp31Arg)
 gnomAD v4
3g.38904021C>ACA352164749SCN11Ac.1686G>T (p.Gln562His)
c.1506G>T (p.Gln502His)
c.1730G>T (n.1730G>T)
c.1023G>T (p.Gln341His)
c.234G>T (p.Gln78His)
c.2061G>T (p.Gln687His)
c.1488G>T (p.Gln496His)
c.1413G>T (p.Gln471His)
c.90G>T (p.Gln30His)
 COSMIC
3g.38904021C=CA1358721564SCN11Ac.1686G= (p.Gln562=)
c.1506G= (p.Gln502=)
c.1730G= (n.1730G=)
c.1023G= (p.Gln341=)
c.234G= (p.Gln78=)
c.2061G= (p.Gln687=)
c.1488G= (p.Gln496=)
c.1413G= (p.Gln471=)
c.90G= (p.Gln30=)
3g.38904021C>GCA352164750SCN11Ac.1686G>C (p.Gln562His)
c.1506G>C (p.Gln502His)
c.1730G>C (n.1730G>C)
c.1023G>C (p.Gln341His)
c.234G>C (p.Gln78His)
c.2061G>C (p.Gln687His)
c.1488G>C (p.Gln496His)
c.1413G>C (p.Gln471His)
c.90G>C (p.Gln30His)
 ClinVar dbSNP gnomAD v4
3g.38904021C>TCA2322229SCN11Ac.1686G>A (p.Gln562=)
c.1506G>A (p.Gln502=)
c.1730G>A (n.1730G>A)
c.1023G>A (p.Gln341=)
c.234G>A (p.Gln78=)
c.2061G>A (p.Gln687=)
c.1488G>A (p.Gln496=)
c.1413G>A (p.Gln471=)
c.90G>A (p.Gln30=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38904022T>ACA352164752SCN11Ac.1685A>T (p.Gln562Leu)
c.1505A>T (p.Gln502Leu)
c.1729A>T (n.1729A>T)
c.1022A>T (p.Gln341Leu)
c.233A>T (p.Gln78Leu)
c.2060A>T (p.Gln687Leu)
c.1487A>T (p.Gln496Leu)
c.1412A>T (p.Gln471Leu)
c.89A>T (p.Gln30Leu)
3g.38904022T>CCA2322230SCN11Ac.1685A>G (p.Gln562Arg)
c.1505A>G (p.Gln502Arg)
c.1729A>G (n.1729A>G)
c.1022A>G (p.Gln341Arg)
c.233A>G (p.Gln78Arg)
c.2060A>G (p.Gln687Arg)
c.1487A>G (p.Gln496Arg)
c.1412A>G (p.Gln471Arg)
c.89A>G (p.Gln30Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38904022T>GCA352164751SCN11Ac.1685A>C (p.Gln562Pro)
c.1505A>C (p.Gln502Pro)
c.1729A>C (n.1729A>C)
c.1022A>C (p.Gln341Pro)
c.233A>C (p.Gln78Pro)
c.2060A>C (p.Gln687Pro)
c.1487A>C (p.Gln496Pro)
c.1412A>C (p.Gln471Pro)
c.89A>C (p.Gln30Pro)
3g.38904022T=CA1358721569SCN11Ac.1685A= (p.Gln562=)
c.1505A= (p.Gln502=)
c.1729A= (n.1729A=)
c.1022A= (p.Gln341=)
c.233A= (p.Gln78=)
c.2060A= (p.Gln687=)
c.1487A= (p.Gln496=)
c.1412A= (p.Gln471=)
c.89A= (p.Gln30=)
3g.38904022_38904023insTAACCA2322231SCN11Ac.1684_1685insGTTA (p.Gln562ArgfsTer2)
c.1504_1505insGTTA (p.Gln502ArgfsTer2)
c.1728_1729insGTTA (n.1728_1729insGTTA)
c.1021_1022insGTTA (p.Gln341ArgfsTer2)
c.232_233insGTTA (p.Gln78ArgfsTer2)
c.2059_2060insGTTA (p.Gln687ArgfsTer2)
c.1486_1487insGTTA (p.Gln496ArgfsTer2)
c.1411_1412insGTTA (p.Gln471ArgfsTer2)
c.88_89insGTTA (p.Gln30ArgfsTer2)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38904023G>ACA352164753SCN11Ac.1684C>T (p.Gln562Ter)
c.1504C>T (p.Gln502Ter)
c.1728C>T (n.1728C>T)
c.1021C>T (p.Gln341Ter)
c.232C>T (p.Gln78Ter)
c.2059C>T (p.Gln687Ter)
c.1486C>T (p.Gln496Ter)
c.1411C>T (p.Gln471Ter)
c.88C>T (p.Gln30Ter)
 dbSNP
3g.38904023G>CCA352164754SCN11Ac.1684C>G (p.Gln562Glu)
c.1504C>G (p.Gln502Glu)
c.1728C>G (n.1728C>G)
c.1021C>G (p.Gln341Glu)
c.232C>G (p.Gln78Glu)
c.2059C>G (p.Gln687Glu)
c.1486C>G (p.Gln496Glu)
c.1411C>G (p.Gln471Glu)
c.88C>G (p.Gln30Glu)
3g.38904023G=CA1358721575SCN11Ac.1684C= (p.Gln562=)
c.1504C= (p.Gln502=)
c.1728C= (n.1728C=)
c.1021C= (p.Gln341=)
c.232C= (p.Gln78=)
c.2059C= (p.Gln687=)
c.1486C= (p.Gln496=)
c.1411C= (p.Gln471=)
c.88C= (p.Gln30=)
3g.38904023G>TCA352164755SCN11Ac.1684C>A (p.Gln562Lys)
c.1504C>A (p.Gln502Lys)
c.1728C>A (n.1728C>A)
c.1021C>A (p.Gln341Lys)
c.232C>A (p.Gln78Lys)
c.2059C>A (p.Gln687Lys)
c.1486C>A (p.Gln496Lys)
c.1411C>A (p.Gln471Lys)
c.88C>A (p.Gln30Lys)
 COSMIC
3g.38904027delCA433336313SCN11Ac.1684del (p.Gln562SerfsTer9)
c.1504del (p.Gln502SerfsTer9)
c.1728del (n.1728del)
c.1021del (p.Gln341SerfsTer9)
c.232del (p.Gln78SerfsTer9)
c.2059del (p.Gln687SerfsTer9)
c.1486del (p.Gln496SerfsTer9)
c.1411del (p.Gln471SerfsTer9)
c.88del (p.Gln30SerfsTer9)
 COSMIC
3g.38904023_38904024insCACACA2322232SCN11Ac.1683_1684insTGTG (p.Gln562CysfsTer7)
c.1503_1504insTGTG (p.Gln502CysfsTer7)
c.1727_1728insTGTG (n.1727_1728insTGTG)
c.1020_1021insTGTG (p.Gln341CysfsTer7)
c.231_232insTGTG (p.Gln78CysfsTer7)
c.2058_2059insTGTG (p.Gln687CysfsTer7)
c.1485_1486insTGTG (p.Gln496CysfsTer7)
c.1410_1411insTGTG (p.Gln471CysfsTer7)
c.87_88insTGTG (p.Gln30CysfsTer7)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38904024G>ACA433336315SCN11Ac.1683C>T (p.Pro561=)
c.1503C>T (p.Pro501=)
c.1727C>T (n.1727C>T)
c.1020C>T (p.Pro340=)
c.231C>T (p.Pro77=)
c.2058C>T (p.Pro686=)
c.1485C>T (p.Pro495=)
c.1410C>T (p.Pro470=)
c.87C>T (p.Pro29=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38904024G>CCA433336314SCN11Ac.1683C>G (p.Pro561=)
c.1503C>G (p.Pro501=)
c.1727C>G (n.1727C>G)
c.1020C>G (p.Pro340=)
c.231C>G (p.Pro77=)
c.2058C>G (p.Pro686=)
c.1485C>G (p.Pro495=)
c.1410C>G (p.Pro470=)
c.87C>G (p.Pro29=)
 gnomAD v4
3g.38904024G=CA1358721586SCN11Ac.1683C= (p.Pro561=)
c.1503C= (p.Pro501=)
c.1727C= (n.1727C=)
c.1020C= (p.Pro340=)
c.231C= (p.Pro77=)
c.2058C= (p.Pro686=)
c.1485C= (p.Pro495=)
c.1410C= (p.Pro470=)
c.87C= (p.Pro29=)
3g.38904024G>TCA72961709SCN11Ac.1683C>A (p.Pro561=)
c.1503C>A (p.Pro501=)
c.1727C>A (n.1727C>A)
c.1020C>A (p.Pro340=)
c.231C>A (p.Pro77=)
c.2058C>A (p.Pro686=)
c.1485C>A (p.Pro495=)
c.1410C>A (p.Pro470=)
c.87C>A (p.Pro29=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38904024_38904025insAACTTAACCA2322233SCN11Ac.1682_1683insGTTAAGTT (p.Gln562LeufsTer12)
c.1502_1503insGTTAAGTT (p.Gln502LeufsTer12)
c.1726_1727insGTTAAGTT (n.1726_1727insGTTAAGTT)
c.1019_1020insGTTAAGTT (p.Gln341LeufsTer12)
c.230_231insGTTAAGTT (p.Gln78LeufsTer12)
c.2057_2058insGTTAAGTT (p.Gln687LeufsTer12)
c.1484_1485insGTTAAGTT (p.Gln496LeufsTer12)
c.1409_1410insGTTAAGTT (p.Gln471LeufsTer12)
c.86_87insGTTAAGTT (p.Gln30LeufsTer12)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38904025G>ACA352164758SCN11Ac.1682C>T (p.Pro561Leu)
c.1502C>T (p.Pro501Leu)
c.1726C>T (n.1726C>T)
c.1019C>T (p.Pro340Leu)
c.230C>T (p.Pro77Leu)
c.2057C>T (p.Pro686Leu)
c.1484C>T (p.Pro495Leu)
c.1409C>T (p.Pro470Leu)
c.86C>T (p.Pro29Leu)
 gnomAD v4
3g.38904025G>CCA352164757SCN11Ac.1682C>G (p.Pro561Arg)
c.1502C>G (p.Pro501Arg)
c.1726C>G (n.1726C>G)
c.1019C>G (p.Pro340Arg)
c.230C>G (p.Pro77Arg)
c.2057C>G (p.Pro686Arg)
c.1484C>G (p.Pro495Arg)
c.1409C>G (p.Pro470Arg)
c.86C>G (p.Pro29Arg)
3g.38904025G=CA1358721591SCN11Ac.1682C= (p.Pro561=)
c.1502C= (p.Pro501=)
c.1726C= (n.1726C=)
c.1019C= (p.Pro340=)
c.230C= (p.Pro77=)
c.2057C= (p.Pro686=)
c.1484C= (p.Pro495=)
c.1409C= (p.Pro470=)
c.86C= (p.Pro29=)
3g.38904025G>TCA352164756SCN11Ac.1682C>A (p.Pro561His)
c.1502C>A (p.Pro501His)
c.1726C>A (n.1726C>A)
c.1019C>A (p.Pro340His)
c.230C>A (p.Pro77His)
c.2057C>A (p.Pro686His)
c.1484C>A (p.Pro495His)
c.1409C>A (p.Pro470His)
c.86C>A (p.Pro29His)
 dbSNP
3g.38904025_38904026insCACCA2322234SCN11Ac.1681_1682insGTG (p.Pro561delinsArgAla)
c.1501_1502insGTG (p.Pro501delinsArgAla)
c.1725_1726insGTG (n.1725_1726insGTG)
c.1018_1019insGTG (p.Pro340delinsArgAla)
c.229_230insGTG (p.Pro77delinsArgAla)
c.2056_2057insGTG (p.Pro686delinsArgAla)
c.1483_1484insGTG (p.Pro495delinsArgAla)
c.1408_1409insGTG (p.Pro470delinsArgAla)
c.85_86insGTG (p.Pro29delinsArgAla)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38904026G>ACA2322235SCN11Ac.1681C>T (p.Pro561Ser)
c.1501C>T (p.Pro501Ser)
c.1725C>T (n.1725C>T)
c.1018C>T (p.Pro340Ser)
c.229C>T (p.Pro77Ser)
c.2056C>T (p.Pro686Ser)
c.1483C>T (p.Pro495Ser)
c.1408C>T (p.Pro470Ser)
c.85C>T (p.Pro29Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38904026G>CCA352164759SCN11Ac.1681C>G (p.Pro561Ala)
c.1501C>G (p.Pro501Ala)
c.1725C>G (n.1725C>G)
c.1018C>G (p.Pro340Ala)
c.229C>G (p.Pro77Ala)
c.2056C>G (p.Pro686Ala)
c.1483C>G (p.Pro495Ala)
c.1408C>G (p.Pro470Ala)
c.85C>G (p.Pro29Ala)
3g.38904026G=CA1358721594SCN11Ac.1681C= (p.Pro561=)
c.1501C= (p.Pro501=)
c.1725C= (n.1725C=)
c.1018C= (p.Pro340=)
c.229C= (p.Pro77=)
c.2056C= (p.Pro686=)
c.1483C= (p.Pro495=)
c.1408C= (p.Pro470=)
c.85C= (p.Pro29=)
3g.38904026G>TCA352164760SCN11Ac.1681C>A (p.Pro561Thr)
c.1501C>A (p.Pro501Thr)
c.1725C>A (n.1725C>A)
c.1018C>A (p.Pro340Thr)
c.229C>A (p.Pro77Thr)
c.2056C>A (p.Pro686Thr)
c.1483C>A (p.Pro495Thr)
c.1408C>A (p.Pro470Thr)
c.85C>A (p.Pro29Thr)
3g.38904027G>ACA433336319SCN11Ac.1680C>T (p.Cys560=)
c.1500C>T (p.Cys500=)
c.1724C>T (n.1724C>T)
c.1017C>T (p.Cys339=)
c.228C>T (p.Cys76=)
c.2055C>T (p.Cys685=)
c.1482C>T (p.Cys494=)
c.1407C>T (p.Cys469=)
c.84C>T (p.Cys28=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38904027G>CCA352164761SCN11Ac.1680C>G (p.Cys560Trp)
c.1500C>G (p.Cys500Trp)
c.1724C>G (n.1724C>G)
c.1017C>G (p.Cys339Trp)
c.228C>G (p.Cys76Trp)
c.2055C>G (p.Cys685Trp)
c.1482C>G (p.Cys494Trp)
c.1407C>G (p.Cys469Trp)
c.84C>G (p.Cys28Trp)
3g.38904027G=CA1358721595SCN11Ac.1680C= (p.Cys560=)
c.1500C= (p.Cys500=)
c.1724C= (n.1724C=)
c.1017C= (p.Cys339=)
c.228C= (p.Cys76=)
c.2055C= (p.Cys685=)
c.1482C= (p.Cys494=)
c.1407C= (p.Cys469=)
c.84C= (p.Cys28=)
3g.38904027G>TCA352164762SCN11Ac.1680C>A (p.Cys560Ter)
c.1500C>A (p.Cys500Ter)
c.1724C>A (n.1724C>A)
c.1017C>A (p.Cys339Ter)
c.228C>A (p.Cys76Ter)
c.2055C>A (p.Cys685Ter)
c.1482C>A (p.Cys494Ter)
c.1407C>A (p.Cys469Ter)
c.84C>A (p.Cys28Ter)
 dbSNP
3g.38904028C>ACA352164763SCN11Ac.1679G>T (p.Cys560Phe)
c.1499G>T (p.Cys500Phe)
c.1723G>T (n.1723G>T)
c.1016G>T (p.Cys339Phe)
c.227G>T (p.Cys76Phe)
c.2054G>T (p.Cys685Phe)
c.1481G>T (p.Cys494Phe)
c.1406G>T (p.Cys469Phe)
c.83G>T (p.Cys28Phe)
 gnomAD v4
3g.38904028C>GCA352164764SCN11Ac.1679G>C (p.Cys560Ser)
c.1499G>C (p.Cys500Ser)
c.1723G>C (n.1723G>C)
c.1016G>C (p.Cys339Ser)
c.227G>C (p.Cys76Ser)
c.2054G>C (p.Cys685Ser)
c.1481G>C (p.Cys494Ser)
c.1406G>C (p.Cys469Ser)
c.83G>C (p.Cys28Ser)
3g.38904028C>TCA352164765SCN11Ac.1679G>A (p.Cys560Tyr)
c.1499G>A (p.Cys500Tyr)
c.1723G>A (n.1723G>A)
c.1016G>A (p.Cys339Tyr)
c.227G>A (p.Cys76Tyr)
c.2054G>A (p.Cys685Tyr)
c.1481G>A (p.Cys494Tyr)
c.1406G>A (p.Cys469Tyr)
c.83G>A (p.Cys28Tyr)
 gnomAD v4
3g.38904029A=CA1358721597SCN11Ac.1678T= (p.Cys560=)
c.1498T= (p.Cys500=)
c.1722T= (n.1722T=)
c.1015T= (p.Cys339=)
c.226T= (p.Cys76=)
c.2053T= (p.Cys685=)
c.1480T= (p.Cys494=)
c.1405T= (p.Cys469=)
c.82T= (p.Cys28=)
3g.38904029A>CCA2322237SCN11Ac.1678T>G (p.Cys560Gly)
c.1498T>G (p.Cys500Gly)
c.1722T>G (n.1722T>G)
c.1015T>G (p.Cys339Gly)
c.226T>G (p.Cys76Gly)
c.2053T>G (p.Cys685Gly)
c.1480T>G (p.Cys494Gly)
c.1405T>G (p.Cys469Gly)
c.82T>G (p.Cys28Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38904029A>GCA352164766SCN11Ac.1678T>C (p.Cys560Arg)
c.1498T>C (p.Cys500Arg)
c.1722T>C (n.1722T>C)
c.1015T>C (p.Cys339Arg)
c.226T>C (p.Cys76Arg)
c.2053T>C (p.Cys685Arg)
c.1480T>C (p.Cys494Arg)
c.1405T>C (p.Cys469Arg)
c.82T>C (p.Cys28Arg)
3g.38904029A>TCA2322236SCN11Ac.1678T>A (p.Cys560Ser)
c.1498T>A (p.Cys500Ser)
c.1722T>A (n.1722T>A)
c.1015T>A (p.Cys339Ser)
c.226T>A (p.Cys76Ser)
c.2053T>A (p.Cys685Ser)
c.1480T>A (p.Cys494Ser)
c.1405T>A (p.Cys469Ser)
c.82T>A (p.Cys28Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38904030A=CA1358721599SCN11Ac.1677T= (p.Cys559=)
c.1497T= (p.Cys499=)
c.1721T= (n.1721T=)
c.1014T= (p.Cys338=)
c.225T= (p.Cys75=)
c.2052T= (p.Cys684=)
c.1479T= (p.Cys493=)
c.1404T= (p.Cys468=)
c.81T= (p.Cys27=)
3g.38904030A>CCA352164767SCN11Ac.1677T>G (p.Cys559Trp)
c.1497T>G (p.Cys499Trp)
c.1721T>G (n.1721T>G)
c.1014T>G (p.Cys338Trp)
c.225T>G (p.Cys75Trp)
c.2052T>G (p.Cys684Trp)
c.1479T>G (p.Cys493Trp)
c.1404T>G (p.Cys468Trp)
c.81T>G (p.Cys27Trp)
3g.38904030A>GCA433336323SCN11Ac.1677T>C (p.Cys559=)
c.1497T>C (p.Cys499=)
c.1721T>C (n.1721T>C)
c.1014T>C (p.Cys338=)
c.225T>C (p.Cys75=)
c.2052T>C (p.Cys684=)
c.1479T>C (p.Cys493=)
c.1404T>C (p.Cys468=)
c.81T>C (p.Cys27=)
 gnomAD v4
3g.38904030A>TCA352164768SCN11Ac.1677T>A (p.Cys559Ter)
c.1497T>A (p.Cys499Ter)
c.1721T>A (n.1721T>A)
c.1014T>A (p.Cys338Ter)
c.225T>A (p.Cys75Ter)
c.2052T>A (p.Cys684Ter)
c.1479T>A (p.Cys493Ter)
c.1404T>A (p.Cys468Ter)
c.81T>A (p.Cys27Ter)
 dbSNP
3g.38904031C>ACA352164769SCN11Ac.1676G>T (p.Cys559Phe)
c.1496G>T (p.Cys499Phe)
c.1720G>T (n.1720G>T)
c.1013G>T (p.Cys338Phe)
c.224G>T (p.Cys75Phe)
c.2051G>T (p.Cys684Phe)
c.1478G>T (p.Cys493Phe)
c.1403G>T (p.Cys468Phe)
c.80G>T (p.Cys27Phe)
3g.38904031C>GCA352164771SCN11Ac.1676G>C (p.Cys559Ser)
c.1496G>C (p.Cys499Ser)
c.1720G>C (n.1720G>C)
c.1013G>C (p.Cys338Ser)
c.224G>C (p.Cys75Ser)
c.2051G>C (p.Cys684Ser)
c.1478G>C (p.Cys493Ser)
c.1403G>C (p.Cys468Ser)
c.80G>C (p.Cys27Ser)
 gnomAD v4
3g.38904031C>TCA352164770SCN11Ac.1676G>A (p.Cys559Tyr)
c.1496G>A (p.Cys499Tyr)
c.1720G>A (n.1720G>A)
c.1013G>A (p.Cys338Tyr)
c.224G>A (p.Cys75Tyr)
c.2051G>A (p.Cys684Tyr)
c.1478G>A (p.Cys493Tyr)
c.1403G>A (p.Cys468Tyr)
c.80G>A (p.Cys27Tyr)
3g.38904032A>CCA352164772SCN11Ac.1675T>G (p.Cys559Gly)
c.1495T>G (p.Cys499Gly)
c.1719T>G (n.1719T>G)
c.1012T>G (p.Cys338Gly)
c.223T>G (p.Cys75Gly)
c.2050T>G (p.Cys684Gly)
c.1477T>G (p.Cys493Gly)
c.1402T>G (p.Cys468Gly)
c.79T>G (p.Cys27Gly)
 gnomAD v4
3g.38904032A>GCA352164774SCN11Ac.1675T>C (p.Cys559Arg)
c.1495T>C (p.Cys499Arg)
c.1719T>C (n.1719T>C)
c.1012T>C (p.Cys338Arg)
c.223T>C (p.Cys75Arg)
c.2050T>C (p.Cys684Arg)
c.1477T>C (p.Cys493Arg)
c.1402T>C (p.Cys468Arg)
c.79T>C (p.Cys27Arg)
3g.38904032A>TCA352164773SCN11Ac.1675T>A (p.Cys559Ser)
c.1495T>A (p.Cys499Ser)
c.1719T>A (n.1719T>A)
c.1012T>A (p.Cys338Ser)
c.223T>A (p.Cys75Ser)
c.2050T>A (p.Cys684Ser)
c.1477T>A (p.Cys493Ser)
c.1402T>A (p.Cys468Ser)
c.79T>A (p.Cys27Ser)
 gnomAD v4
3g.38904033G>ACA433336326SCN11Ac.1674C>T (p.Asn558=)
c.1494C>T (p.Asn498=)
c.1718C>T (n.1718C>T)
c.1011C>T (p.Asn337=)
c.222C>T (p.Asn74=)
c.2049C>T (p.Asn683=)
c.1476C>T (p.Asn492=)
c.1401C>T (p.Asn467=)
c.78C>T (p.Asn26=)
3g.38904033G>CCA2322238SCN11Ac.1674C>G (p.Asn558Lys)
c.1494C>G (p.Asn498Lys)
c.1718C>G (n.1718C>G)
c.1011C>G (p.Asn337Lys)
c.222C>G (p.Asn74Lys)
c.2049C>G (p.Asn683Lys)
c.1476C>G (p.Asn492Lys)
c.1401C>G (p.Asn467Lys)
c.78C>G (p.Asn26Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38904033G=CA1358721602SCN11Ac.1674C= (p.Asn558=)
c.1494C= (p.Asn498=)
c.1718C= (n.1718C=)
c.1011C= (p.Asn337=)
c.222C= (p.Asn74=)
c.2049C= (p.Asn683=)
c.1476C= (p.Asn492=)
c.1401C= (p.Asn467=)
c.78C= (p.Asn26=)
3g.38904033G>TCA352164775SCN11Ac.1674C>A (p.Asn558Lys)
c.1494C>A (p.Asn498Lys)
c.1718C>A (n.1718C>A)
c.1011C>A (p.Asn337Lys)
c.222C>A (p.Asn74Lys)
c.2049C>A (p.Asn683Lys)
c.1476C>A (p.Asn492Lys)
c.1401C>A (p.Asn467Lys)
c.78C>A (p.Asn26Lys)
3g.38904034T>ACA352164776SCN11Ac.1673A>T (p.Asn558Ile)
c.1493A>T (p.Asn498Ile)
c.1717A>T (n.1717A>T)
c.1010A>T (p.Asn337Ile)
c.221A>T (p.Asn74Ile)
c.2048A>T (p.Asn683Ile)
c.1475A>T (p.Asn492Ile)
c.1400A>T (p.Asn467Ile)
c.77A>T (p.Asn26Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38904034T>CCA352164777SCN11Ac.1673A>G (p.Asn558Ser)
c.1493A>G (p.Asn498Ser)
c.1717A>G (n.1717A>G)
c.1010A>G (p.Asn337Ser)
c.221A>G (p.Asn74Ser)
c.2048A>G (p.Asn683Ser)
c.1475A>G (p.Asn492Ser)
c.1400A>G (p.Asn467Ser)
c.77A>G (p.Asn26Ser)
3g.38904034T>GCA352164778SCN11Ac.1673A>C (p.Asn558Thr)
c.1493A>C (p.Asn498Thr)
c.1717A>C (n.1717A>C)
c.1010A>C (p.Asn337Thr)
c.221A>C (p.Asn74Thr)
c.2048A>C (p.Asn683Thr)
c.1475A>C (p.Asn492Thr)
c.1400A>C (p.Asn467Thr)
c.77A>C (p.Asn26Thr)
3g.38904034T=CA1358721606SCN11Ac.1673A= (p.Asn558=)
c.1493A= (p.Asn498=)
c.1717A= (n.1717A=)
c.1010A= (p.Asn337=)
c.221A= (p.Asn74=)
c.2048A= (p.Asn683=)
c.1475A= (p.Asn492=)
c.1400A= (p.Asn467=)
c.77A= (p.Asn26=)
3g.38904035T>ACA352164779SCN11Ac.1672A>T (p.Asn558Tyr)
c.1492A>T (p.Asn498Tyr)
c.1716A>T (n.1716A>T)
c.1009A>T (p.Asn337Tyr)
c.220A>T (p.Asn74Tyr)
c.2047A>T (p.Asn683Tyr)
c.1474A>T (p.Asn492Tyr)
c.1399A>T (p.Asn467Tyr)
c.76A>T (p.Asn26Tyr)
3g.38904035T>CCA352164780SCN11Ac.1672A>G (p.Asn558Asp)
c.1492A>G (p.Asn498Asp)
c.1716A>G (n.1716A>G)
c.1009A>G (p.Asn337Asp)
c.220A>G (p.Asn74Asp)
c.2047A>G (p.Asn683Asp)
c.1474A>G (p.Asn492Asp)
c.1399A>G (p.Asn467Asp)
c.76A>G (p.Asn26Asp)
3g.38904035T>GCA352164781SCN11Ac.1672A>C (p.Asn558His)
c.1492A>C (p.Asn498His)
c.1716A>C (n.1716A>C)
c.1009A>C (p.Asn337His)
c.220A>C (p.Asn74His)
c.2047A>C (p.Asn683His)
c.1474A>C (p.Asn492His)
c.1399A>C (p.Asn467His)
c.76A>C (p.Asn26His)
3g.38904036C>ACA352164782SCN11Ac.1671G>T (p.Trp557Cys)
c.1491G>T (p.Trp497Cys)
c.1715G>T (n.1715G>T)
c.1008G>T (p.Trp336Cys)
c.219G>T (p.Trp73Cys)
c.2046G>T (p.Trp682Cys)
c.1473G>T (p.Trp491Cys)
c.1398G>T (p.Trp466Cys)
c.75G>T (p.Trp25Cys)
3g.38904036C=CA1358721609SCN11Ac.1671G= (p.Trp557=)
c.1491G= (p.Trp497=)
c.1715G= (n.1715G=)
c.1008G= (p.Trp336=)
c.219G= (p.Trp73=)
c.2046G= (p.Trp682=)
c.1473G= (p.Trp491=)
c.1398G= (p.Trp466=)
c.75G= (p.Trp25=)
3g.38904036C>GCA352164783SCN11Ac.1671G>C (p.Trp557Cys)
c.1491G>C (p.Trp497Cys)
c.1715G>C (n.1715G>C)
c.1008G>C (p.Trp336Cys)
c.219G>C (p.Trp73Cys)
c.2046G>C (p.Trp682Cys)
c.1473G>C (p.Trp491Cys)
c.1398G>C (p.Trp466Cys)
c.75G>C (p.Trp25Cys)
3g.38904036C>TCA352164784SCN11Ac.1671G>A (p.Trp557Ter)
c.1491G>A (p.Trp497Ter)
c.1715G>A (n.1715G>A)
c.1008G>A (p.Trp336Ter)
c.219G>A (p.Trp73Ter)
c.2046G>A (p.Trp682Ter)
c.1473G>A (p.Trp491Ter)
c.1398G>A (p.Trp466Ter)
c.75G>A (p.Trp25Ter)
 dbSNP gnomAD v4 COSMIC
3g.38904037C>ACA352164787SCN11Ac.1670G>T (p.Trp557Leu)
c.1490G>T (p.Trp497Leu)
c.1714G>T (n.1714G>T)
c.1007G>T (p.Trp336Leu)
c.218G>T (p.Trp73Leu)
c.2045G>T (p.Trp682Leu)
c.1472G>T (p.Trp491Leu)
c.1397G>T (p.Trp466Leu)
c.74G>T (p.Trp25Leu)
3g.38904037C>GCA352164785SCN11Ac.1670G>C (p.Trp557Ser)
c.1490G>C (p.Trp497Ser)
c.1714G>C (n.1714G>C)
c.1007G>C (p.Trp336Ser)
c.218G>C (p.Trp73Ser)
c.2045G>C (p.Trp682Ser)
c.1472G>C (p.Trp491Ser)
c.1397G>C (p.Trp466Ser)
c.74G>C (p.Trp25Ser)
3g.38904037C>TCA352164786SCN11Ac.1670G>A (p.Trp557Ter)
c.1490G>A (p.Trp497Ter)
c.1714G>A (n.1714G>A)
c.1007G>A (p.Trp336Ter)
c.218G>A (p.Trp73Ter)
c.2045G>A (p.Trp682Ter)
c.1472G>A (p.Trp491Ter)
c.1397G>A (p.Trp466Ter)
c.74G>A (p.Trp25Ter)
 gnomAD v4
3g.38904038A>CCA352164788SCN11Ac.1669T>G (p.Trp557Gly)
c.1489T>G (p.Trp497Gly)
c.1713T>G (n.1713T>G)
c.1006T>G (p.Trp336Gly)
c.217T>G (p.Trp73Gly)
c.2044T>G (p.Trp682Gly)
c.1471T>G (p.Trp491Gly)
c.1396T>G (p.Trp466Gly)
c.73T>G (p.Trp25Gly)
3g.38904038A>GCA352164789SCN11Ac.1669T>C (p.Trp557Arg)
c.1489T>C (p.Trp497Arg)
c.1713T>C (n.1713T>C)
c.1006T>C (p.Trp336Arg)
c.217T>C (p.Trp73Arg)
c.2044T>C (p.Trp682Arg)
c.1471T>C (p.Trp491Arg)
c.1396T>C (p.Trp466Arg)
c.73T>C (p.Trp25Arg)
3g.38904038A>TCA352164790SCN11Ac.1669T>A (p.Trp557Arg)
c.1489T>A (p.Trp497Arg)
c.1713T>A (n.1713T>A)
c.1006T>A (p.Trp336Arg)
c.217T>A (p.Trp73Arg)
c.2044T>A (p.Trp682Arg)
c.1471T>A (p.Trp491Arg)
c.1396T>A (p.Trp466Arg)
c.73T>A (p.Trp25Arg)
 gnomAD v4
3g.38904039C>ACA433336331SCN11Ac.1668G>T (p.Val556=)
c.1488G>T (p.Val496=)
c.1712G>T (n.1712G>T)
c.1005G>T (p.Val335=)
c.216G>T (p.Val72=)
c.2043G>T (p.Val681=)
c.1470G>T (p.Val490=)
c.1395G>T (p.Val465=)
c.72G>T (p.Val24=)
 gnomAD v4
3g.38904039C=CA1358721610SCN11Ac.1668G= (p.Val556=)
c.1488G= (p.Val496=)
c.1712G= (n.1712G=)
c.1005G= (p.Val335=)
c.216G= (p.Val72=)
c.2043G= (p.Val681=)
c.1470G= (p.Val490=)
c.1395G= (p.Val465=)
c.72G= (p.Val24=)
3g.38904039C>GCA433336332SCN11Ac.1668G>C (p.Val556=)
c.1488G>C (p.Val496=)
c.1712G>C (n.1712G>C)
c.1005G>C (p.Val335=)
c.216G>C (p.Val72=)
c.2043G>C (p.Val681=)
c.1470G>C (p.Val490=)
c.1395G>C (p.Val465=)
c.72G>C (p.Val24=)
3g.38904039C>TCA2322239SCN11Ac.1668G>A (p.Val556=)
c.1488G>A (p.Val496=)
c.1712G>A (n.1712G>A)
c.1005G>A (p.Val335=)
c.216G>A (p.Val72=)
c.2043G>A (p.Val681=)
c.1470G>A (p.Val490=)
c.1395G>A (p.Val465=)
c.72G>A (p.Val24=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38904040A>CCA352164791SCN11Ac.1667T>G (p.Val556Gly)
c.1487T>G (p.Val496Gly)
c.1711T>G (n.1711T>G)
c.1004T>G (p.Val335Gly)
c.215T>G (p.Val72Gly)
c.2042T>G (p.Val681Gly)
c.1469T>G (p.Val490Gly)
c.1394T>G (p.Val465Gly)
c.71T>G (p.Val24Gly)
3g.38904040A>GCA352164792SCN11Ac.1667T>C (p.Val556Ala)
c.1487T>C (p.Val496Ala)
c.1711T>C (n.1711T>C)
c.1004T>C (p.Val335Ala)
c.215T>C (p.Val72Ala)
c.2042T>C (p.Val681Ala)
c.1469T>C (p.Val490Ala)
c.1394T>C (p.Val465Ala)
c.71T>C (p.Val24Ala)
3g.38904040A>TCA352164793SCN11Ac.1667T>A (p.Val556Glu)
c.1487T>A (p.Val496Glu)
c.1711T>A (n.1711T>A)
c.1004T>A (p.Val335Glu)
c.215T>A (p.Val72Glu)
c.2042T>A (p.Val681Glu)
c.1469T>A (p.Val490Glu)
c.1394T>A (p.Val465Glu)
c.71T>A (p.Val24Glu)
3g.38904041C>ACA352164794SCN11Ac.1666G>T (p.Val556Leu)
c.1486G>T (p.Val496Leu)
c.1710G>T (n.1710G>T)
c.1003G>T (p.Val335Leu)
c.214G>T (p.Val72Leu)
c.2041G>T (p.Val681Leu)
c.1468G>T (p.Val490Leu)
c.1393G>T (p.Val465Leu)
c.70G>T (p.Val24Leu)
 gnomAD v4
3g.38904041C=CA1358721613SCN11Ac.1666G= (p.Val556=)
c.1486G= (p.Val496=)
c.1710G= (n.1710G=)
c.1003G= (p.Val335=)
c.214G= (p.Val72=)
c.2041G= (p.Val681=)
c.1468G= (p.Val490=)
c.1393G= (p.Val465=)
c.70G= (p.Val24=)
3g.38904041C>GCA72961729SCN11Ac.1666G>C (p.Val556Leu)
c.1486G>C (p.Val496Leu)
c.1710G>C (n.1710G>C)
c.1003G>C (p.Val335Leu)
c.214G>C (p.Val72Leu)
c.2041G>C (p.Val681Leu)
c.1468G>C (p.Val490Leu)
c.1393G>C (p.Val465Leu)
c.70G>C (p.Val24Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.38904041C>TCA2322240SCN11Ac.1666G>A (p.Val556Met)
c.1486G>A (p.Val496Met)
c.1710G>A (n.1710G>A)
c.1003G>A (p.Val335Met)
c.214G>A (p.Val72Met)
c.2041G>A (p.Val681Met)
c.1468G>A (p.Val490Met)
c.1393G>A (p.Val465Met)
c.70G>A (p.Val24Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38904042G>ACA433336333SCN11Ac.1665C>T (p.Leu555=)
c.1485C>T (p.Leu495=)
c.1709C>T (n.1709C>T)
c.1002C>T (p.Leu334=)
c.213C>T (p.Leu71=)
c.2040C>T (p.Leu680=)
c.1467C>T (p.Leu489=)
c.1392C>T (p.Leu464=)
c.69C>T (p.Leu23=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.38904042G>CCA433336335SCN11Ac.1665C>G (p.Leu555=)
c.1485C>G (p.Leu495=)
c.1709C>G (n.1709C>G)
c.1002C>G (p.Leu334=)
c.213C>G (p.Leu71=)
c.2040C>G (p.Leu680=)
c.1467C>G (p.Leu489=)
c.1392C>G (p.Leu464=)
c.69C>G (p.Leu23=)
 ClinVar dbSNP gnomAD v4
3g.38904042G=CA1358721618SCN11Ac.1665C= (p.Leu555=)
c.1485C= (p.Leu495=)
c.1709C= (n.1709C=)
c.1002C= (p.Leu334=)
c.213C= (p.Leu71=)
c.2040C= (p.Leu680=)
c.1467C= (p.Leu489=)
c.1392C= (p.Leu464=)
c.69C= (p.Leu23=)
3g.38904042G>TCA433336336SCN11Ac.1665C>A (p.Leu555=)
c.1485C>A (p.Leu495=)
c.1709C>A (n.1709C>A)
c.1002C>A (p.Leu334=)
c.213C>A (p.Leu71=)
c.2040C>A (p.Leu680=)
c.1467C>A (p.Leu489=)
c.1392C>A (p.Leu464=)
c.69C>A (p.Leu23=)
3g.38904043A>CCA352164796SCN11Ac.1664T>G (p.Leu555Arg)
c.1484T>G (p.Leu495Arg)
c.1708T>G (n.1708T>G)
c.1001T>G (p.Leu334Arg)
c.212T>G (p.Leu71Arg)
c.2039T>G (p.Leu680Arg)
c.1466T>G (p.Leu489Arg)
c.1391T>G (p.Leu464Arg)
c.68T>G (p.Leu23Arg)
3g.38904043A>GCA352164797SCN11Ac.1664T>C (p.Leu555Pro)
c.1484T>C (p.Leu495Pro)
c.1708T>C (n.1708T>C)
c.1001T>C (p.Leu334Pro)
c.212T>C (p.Leu71Pro)
c.2039T>C (p.Leu680Pro)
c.1466T>C (p.Leu489Pro)
c.1391T>C (p.Leu464Pro)
c.68T>C (p.Leu23Pro)
3g.38904043A>TCA352164795SCN11Ac.1664T>A (p.Leu555His)
c.1484T>A (p.Leu495His)
c.1708T>A (n.1708T>A)
c.1001T>A (p.Leu334His)
c.212T>A (p.Leu71His)
c.2039T>A (p.Leu680His)
c.1466T>A (p.Leu489His)
c.1391T>A (p.Leu464His)
c.68T>A (p.Leu23His)
3g.38904044G>ACA352164798SCN11Ac.1663C>T (p.Leu555Phe)
c.1483C>T (p.Leu495Phe)
c.1707C>T (n.1707C>T)
c.1000C>T (p.Leu334Phe)
c.211C>T (p.Leu71Phe)
c.2038C>T (p.Leu680Phe)
c.1465C>T (p.Leu489Phe)
c.1390C>T (p.Leu464Phe)
c.67C>T (p.Leu23Phe)
3g.38904044G>CCA352164799SCN11Ac.1663C>G (p.Leu555Val)
c.1483C>G (p.Leu495Val)
c.1707C>G (n.1707C>G)
c.1000C>G (p.Leu334Val)
c.211C>G (p.Leu71Val)
c.2038C>G (p.Leu680Val)
c.1465C>G (p.Leu489Val)
c.1390C>G (p.Leu464Val)
c.67C>G (p.Leu23Val)
3g.38904044G=CA1358721623SCN11Ac.1663C= (p.Leu555=)
c.1483C= (p.Leu495=)
c.1707C= (n.1707C=)
c.1000C= (p.Leu334=)
c.211C= (p.Leu71=)
c.2038C= (p.Leu680=)
c.1465C= (p.Leu489=)
c.1390C= (p.Leu464=)
c.67C= (p.Leu23=)
3g.38904044G>TCA2322241SCN11Ac.1663C>A (p.Leu555Ile)
c.1483C>A (p.Leu495Ile)
c.1707C>A (n.1707C>A)
c.1000C>A (p.Leu334Ile)
c.211C>A (p.Leu71Ile)
c.2038C>A (p.Leu680Ile)
c.1465C>A (p.Leu489Ile)
c.1390C>A (p.Leu464Ile)
c.67C>A (p.Leu23Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38904045G>ACA2322242SCN11Ac.1662C>T (p.Tyr554=)
c.1482C>T (p.Tyr494=)
c.1706C>T (n.1706C>T)
c.999C>T (p.Tyr333=)
c.210C>T (p.Tyr70=)
c.2037C>T (p.Tyr679=)
c.1464C>T (p.Tyr488=)
c.1389C>T (p.Tyr463=)
c.66C>T (p.Tyr22=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38904045G>CCA352164800SCN11Ac.1662C>G (p.Tyr554Ter)
c.1482C>G (p.Tyr494Ter)
c.1706C>G (n.1706C>G)
c.999C>G (p.Tyr333Ter)
c.210C>G (p.Tyr70Ter)
c.2037C>G (p.Tyr679Ter)
c.1464C>G (p.Tyr488Ter)
c.1389C>G (p.Tyr463Ter)
c.66C>G (p.Tyr22Ter)
3g.38904045G=CA1358721628SCN11Ac.1662C= (p.Tyr554=)
c.1482C= (p.Tyr494=)
c.1706C= (n.1706C=)
c.999C= (p.Tyr333=)
c.210C= (p.Tyr70=)
c.2037C= (p.Tyr679=)
c.1464C= (p.Tyr488=)
c.1389C= (p.Tyr463=)
c.66C= (p.Tyr22=)
3g.38904045G>TCA352164801SCN11Ac.1662C>A (p.Tyr554Ter)
c.1482C>A (p.Tyr494Ter)
c.1706C>A (n.1706C>A)
c.999C>A (p.Tyr333Ter)
c.210C>A (p.Tyr70Ter)
c.2037C>A (p.Tyr679Ter)
c.1464C>A (p.Tyr488Ter)
c.1389C>A (p.Tyr463Ter)
c.66C>A (p.Tyr22Ter)
3g.38904046T>ACA352164802SCN11Ac.1661A>T (p.Tyr554Phe)
c.1481A>T (p.Tyr494Phe)
c.1705A>T (n.1705A>T)
c.998A>T (p.Tyr333Phe)
c.209A>T (p.Tyr70Phe)
c.2036A>T (p.Tyr679Phe)
c.1463A>T (p.Tyr488Phe)
c.1388A>T (p.Tyr463Phe)
c.65A>T (p.Tyr22Phe)
3g.38904046T>CCA352164803SCN11Ac.1661A>G (p.Tyr554Cys)
c.1481A>G (p.Tyr494Cys)
c.1705A>G (n.1705A>G)
c.998A>G (p.Tyr333Cys)
c.209A>G (p.Tyr70Cys)
c.2036A>G (p.Tyr679Cys)
c.1463A>G (p.Tyr488Cys)
c.1388A>G (p.Tyr463Cys)
c.65A>G (p.Tyr22Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38904046T>GCA352164804SCN11Ac.1661A>C (p.Tyr554Ser)
c.1481A>C (p.Tyr494Ser)
c.1705A>C (n.1705A>C)
c.998A>C (p.Tyr333Ser)
c.209A>C (p.Tyr70Ser)
c.2036A>C (p.Tyr679Ser)
c.1463A>C (p.Tyr488Ser)
c.1388A>C (p.Tyr463Ser)
c.65A>C (p.Tyr22Ser)
 gnomAD v4
3g.38904046T=CA1358721632SCN11Ac.1661A= (p.Tyr554=)
c.1481A= (p.Tyr494=)
c.1705A= (n.1705A=)
c.998A= (p.Tyr333=)
c.209A= (p.Tyr70=)
c.2036A= (p.Tyr679=)
c.1463A= (p.Tyr488=)
c.1388A= (p.Tyr463=)
c.65A= (p.Tyr22=)
3g.38904047A>CCA352164805SCN11Ac.1660T>G (p.Tyr554Asp)
c.1480T>G (p.Tyr494Asp)
c.1704T>G (n.1704T>G)
c.997T>G (p.Tyr333Asp)
c.208T>G (p.Tyr70Asp)
c.2035T>G (p.Tyr679Asp)
c.1462T>G (p.Tyr488Asp)
c.1387T>G (p.Tyr463Asp)
c.64T>G (p.Tyr22Asp)
3g.38904047A>GCA352164806SCN11Ac.1660T>C (p.Tyr554His)
c.1480T>C (p.Tyr494His)
c.1704T>C (n.1704T>C)
c.997T>C (p.Tyr333His)
c.208T>C (p.Tyr70His)
c.2035T>C (p.Tyr679His)
c.1462T>C (p.Tyr488His)
c.1387T>C (p.Tyr463His)
c.64T>C (p.Tyr22His)
3g.38904047A>TCA352164807SCN11Ac.1660T>A (p.Tyr554Asn)
c.1480T>A (p.Tyr494Asn)
c.1704T>A (n.1704T>A)
c.997T>A (p.Tyr333Asn)
c.208T>A (p.Tyr70Asn)
c.2035T>A (p.Tyr679Asn)
c.1462T>A (p.Tyr488Asn)
c.1387T>A (p.Tyr463Asn)
c.64T>A (p.Tyr22Asn)
3g.38904048C>ACA352164809SCN11Ac.1659G>T (p.Lys553Asn)
c.1479G>T (p.Lys493Asn)
c.1703G>T (n.1703G>T)
c.996G>T (p.Lys332Asn)
c.207G>T (p.Lys69Asn)
c.2034G>T (p.Lys678Asn)
c.1461G>T (p.Lys487Asn)
c.1386G>T (p.Lys462Asn)
c.63G>T (p.Lys21Asn)
3g.38904048C>GCA352164808SCN11Ac.1659G>C (p.Lys553Asn)
c.1479G>C (p.Lys493Asn)
c.1703G>C (n.1703G>C)
c.996G>C (p.Lys332Asn)
c.207G>C (p.Lys69Asn)
c.2034G>C (p.Lys678Asn)
c.1461G>C (p.Lys487Asn)
c.1386G>C (p.Lys462Asn)
c.63G>C (p.Lys21Asn)
3g.38904048C>TCA433336339SCN11Ac.1659G>A (p.Lys553=)
c.1479G>A (p.Lys493=)
c.1703G>A (n.1703G>A)
c.996G>A (p.Lys332=)
c.207G>A (p.Lys69=)
c.2034G>A (p.Lys678=)
c.1461G>A (p.Lys487=)
c.1386G>A (p.Lys462=)
c.63G>A (p.Lys21=)
 gnomAD v4
3g.38904049T>ACA352164810SCN11Ac.1658A>T (p.Lys553Met)
c.1478A>T (p.Lys493Met)
c.1702A>T (n.1702A>T)
c.995A>T (p.Lys332Met)
c.206A>T (p.Lys69Met)
c.2033A>T (p.Lys678Met)
c.1460A>T (p.Lys487Met)
c.1385A>T (p.Lys462Met)
c.62A>T (p.Lys21Met)
3g.38904049T>CCA2322243SCN11Ac.1658A>G (p.Lys553Arg)
c.1478A>G (p.Lys493Arg)
c.1702A>G (n.1702A>G)
c.995A>G (p.Lys332Arg)
c.206A>G (p.Lys69Arg)
c.2033A>G (p.Lys678Arg)
c.1460A>G (p.Lys487Arg)
c.1385A>G (p.Lys462Arg)
c.62A>G (p.Lys21Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38904049T>GCA352164811SCN11Ac.1658A>C (p.Lys553Thr)
c.1478A>C (p.Lys493Thr)
c.1702A>C (n.1702A>C)
c.995A>C (p.Lys332Thr)
c.206A>C (p.Lys69Thr)
c.2033A>C (p.Lys678Thr)
c.1460A>C (p.Lys487Thr)
c.1385A>C (p.Lys462Thr)
c.62A>C (p.Lys21Thr)
3g.38904049T=CA1358721636SCN11Ac.1658A= (p.Lys553=)
c.1478A= (p.Lys493=)
c.1702A= (n.1702A=)
c.995A= (p.Lys332=)
c.206A= (p.Lys69=)
c.2033A= (p.Lys678=)
c.1460A= (p.Lys487=)
c.1385A= (p.Lys462=)
c.62A= (p.Lys21=)
3g.38904050T>ACA352164812SCN11Ac.1657A>T (p.Lys553Ter)
c.1477A>T (p.Lys493Ter)
c.1701A>T (n.1701A>T)
c.994A>T (p.Lys332Ter)
c.205A>T (p.Lys69Ter)
c.2032A>T (p.Lys678Ter)
c.1459A>T (p.Lys487Ter)
c.1384A>T (p.Lys462Ter)
c.61A>T (p.Lys21Ter)
 dbSNP
3g.38904050T>CCA352164813SCN11Ac.1657A>G (p.Lys553Glu)
c.1477A>G (p.Lys493Glu)
c.1701A>G (n.1701A>G)
c.994A>G (p.Lys332Glu)
c.205A>G (p.Lys69Glu)
c.2032A>G (p.Lys678Glu)
c.1459A>G (p.Lys487Glu)
c.1384A>G (p.Lys462Glu)
c.61A>G (p.Lys21Glu)
3g.38904050T>GCA352164814SCN11Ac.1657A>C (p.Lys553Gln)
c.1477A>C (p.Lys493Gln)
c.1701A>C (n.1701A>C)
c.994A>C (p.Lys332Gln)
c.205A>C (p.Lys69Gln)
c.2032A>C (p.Lys678Gln)
c.1459A>C (p.Lys487Gln)
c.1384A>C (p.Lys462Gln)
c.61A>C (p.Lys21Gln)
3g.38904050T=CA1358721640SCN11Ac.1657A= (p.Lys553=)
c.1477A= (p.Lys493=)
c.1701A= (n.1701A=)
c.994A= (p.Lys332=)
c.205A= (p.Lys69=)
c.2032A= (p.Lys678=)
c.1459A= (p.Lys487=)
c.1384A= (p.Lys462=)
c.61A= (p.Lys21=)
3g.38904051G>ACA433336341SCN11Ac.1656C>T (p.Ser552=)
c.1476C>T (p.Ser492=)
c.1700C>T (n.1700C>T)
c.993C>T (p.Ser331=)
c.204C>T (p.Ser68=)
c.2031C>T (p.Ser677=)
c.1458C>T (p.Ser486=)
c.1383C>T (p.Ser461=)
c.60C>T (p.Ser20=)
 gnomAD v4
3g.38904051G>CCA433336342SCN11Ac.1656C>G (p.Ser552=)
c.1476C>G (p.Ser492=)
c.1700C>G (n.1700C>G)
c.993C>G (p.Ser331=)
c.204C>G (p.Ser68=)
c.2031C>G (p.Ser677=)
c.1458C>G (p.Ser486=)
c.1383C>G (p.Ser461=)
c.60C>G (p.Ser20=)
3g.38904051G>TCA433336343SCN11Ac.1656C>A (p.Ser552=)
c.1476C>A (p.Ser492=)
c.1700C>A (n.1700C>A)
c.993C>A (p.Ser331=)
c.204C>A (p.Ser68=)
c.2031C>A (p.Ser677=)
c.1458C>A (p.Ser486=)
c.1383C>A (p.Ser461=)
c.60C>A (p.Ser20=)
3g.38904052G>ACA352164815SCN11Ac.1655C>T (p.Ser552Phe)
c.1475C>T (p.Ser492Phe)
c.1699C>T (n.1699C>T)
c.992C>T (p.Ser331Phe)
c.203C>T (p.Ser68Phe)
c.2030C>T (p.Ser677Phe)
c.1457C>T (p.Ser486Phe)
c.1382C>T (p.Ser461Phe)
c.59C>T (p.Ser20Phe)
3g.38904052G>CCA352164816SCN11Ac.1655C>G (p.Ser552Cys)
c.1475C>G (p.Ser492Cys)
c.1699C>G (n.1699C>G)
c.992C>G (p.Ser331Cys)
c.203C>G (p.Ser68Cys)
c.2030C>G (p.Ser677Cys)
c.1457C>G (p.Ser486Cys)
c.1382C>G (p.Ser461Cys)
c.59C>G (p.Ser20Cys)
 dbSNP gnomAD v2 gnomAD v4
3g.38904052G=CA1358721642SCN11Ac.1655C= (p.Ser552=)
c.1475C= (p.Ser492=)
c.1699C= (n.1699C=)
c.992C= (p.Ser331=)
c.203C= (p.Ser68=)
c.2030C= (p.Ser677=)
c.1457C= (p.Ser486=)
c.1382C= (p.Ser461=)
c.59C= (p.Ser20=)
3g.38904052G>TCA352164817SCN11Ac.1655C>A (p.Ser552Tyr)
c.1475C>A (p.Ser492Tyr)
c.1699C>A (n.1699C>A)
c.992C>A (p.Ser331Tyr)
c.203C>A (p.Ser68Tyr)
c.2030C>A (p.Ser677Tyr)
c.1457C>A (p.Ser486Tyr)
c.1382C>A (p.Ser461Tyr)
c.59C>A (p.Ser20Tyr)
3g.38904053A=CA1358721649SCN11Ac.1654T= (p.Ser552=)
c.1474T= (p.Ser492=)
c.1698T= (n.1698T=)
c.991T= (p.Ser331=)
c.202T= (p.Ser68=)
c.2029T= (p.Ser677=)
c.1456T= (p.Ser486=)
c.1381T= (p.Ser461=)
c.58T= (p.Ser20=)
3g.38904053A>CCA352164818SCN11Ac.1654T>G (p.Ser552Ala)
c.1474T>G (p.Ser492Ala)
c.1698T>G (n.1698T>G)
c.991T>G (p.Ser331Ala)
c.202T>G (p.Ser68Ala)
c.2029T>G (p.Ser677Ala)
c.1456T>G (p.Ser486Ala)
c.1381T>G (p.Ser461Ala)
c.58T>G (p.Ser20Ala)
3g.38904053A>GCA352164819SCN11Ac.1654T>C (p.Ser552Pro)
c.1474T>C (p.Ser492Pro)
c.1698T>C (n.1698T>C)
c.991T>C (p.Ser331Pro)
c.202T>C (p.Ser68Pro)
c.2029T>C (p.Ser677Pro)
c.1456T>C (p.Ser486Pro)
c.1381T>C (p.Ser461Pro)
c.58T>C (p.Ser20Pro)
3g.38904053A>TCA352164820SCN11Ac.1654T>A (p.Ser552Thr)
c.1474T>A (p.Ser492Thr)
c.1698T>A (n.1698T>A)
c.991T>A (p.Ser331Thr)
c.202T>A (p.Ser68Thr)
c.2029T>A (p.Ser677Thr)
c.1456T>A (p.Ser486Thr)
c.1381T>A (p.Ser461Thr)
c.58T>A (p.Ser20Thr)
 ClinVar dbSNP gnomAD v4
3g.38904054T>ACA433336348SCN11Ac.1653A>T (p.Ala551=)
c.1473A>T (p.Ala491=)
c.1697A>T (n.1697A>T)
c.990A>T (p.Ala330=)
c.201A>T (p.Ala67=)
c.2028A>T (p.Ala676=)
c.1455A>T (p.Ala485=)
c.1380A>T (p.Ala460=)
c.57A>T (p.Ala19=)
3g.38904054T>CCA2322244SCN11Ac.1653A>G (p.Ala551=)
c.1473A>G (p.Ala491=)
c.1697A>G (n.1697A>G)
c.990A>G (p.Ala330=)
c.201A>G (p.Ala67=)
c.2028A>G (p.Ala676=)
c.1455A>G (p.Ala485=)
c.1380A>G (p.Ala460=)
c.57A>G (p.Ala19=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38904054T>GCA2322245SCN11Ac.1653A>C (p.Ala551=)
c.1473A>C (p.Ala491=)
c.1697A>C (n.1697A>C)
c.990A>C (p.Ala330=)
c.201A>C (p.Ala67=)
c.2028A>C (p.Ala676=)
c.1455A>C (p.Ala485=)
c.1380A>C (p.Ala460=)
c.57A>C (p.Ala19=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38904054T=CA1358721652SCN11Ac.1653A= (p.Ala551=)
c.1473A= (p.Ala491=)
c.1697A= (n.1697A=)
c.990A= (p.Ala330=)
c.201A= (p.Ala67=)
c.2028A= (p.Ala676=)
c.1455A= (p.Ala485=)
c.1380A= (p.Ala460=)
c.57A= (p.Ala19=)
3g.38904055G>ACA352164823SCN11Ac.1652C>T (p.Ala551Val)
c.1472C>T (p.Ala491Val)
c.1696C>T (n.1696C>T)
c.989C>T (p.Ala330Val)
c.200C>T (p.Ala67Val)
c.2027C>T (p.Ala676Val)
c.1454C>T (p.Ala485Val)
c.1379C>T (p.Ala460Val)
c.56C>T (p.Ala19Val)
3g.38904055G>CCA352164822SCN11Ac.1652C>G (p.Ala551Gly)
c.1472C>G (p.Ala491Gly)
c.1696C>G (n.1696C>G)
c.989C>G (p.Ala330Gly)
c.200C>G (p.Ala67Gly)
c.2027C>G (p.Ala676Gly)
c.1454C>G (p.Ala485Gly)
c.1379C>G (p.Ala460Gly)
c.56C>G (p.Ala19Gly)
3g.38904055G>TCA352164821SCN11Ac.1652C>A (p.Ala551Glu)
c.1472C>A (p.Ala491Glu)
c.1696C>A (n.1696C>A)
c.989C>A (p.Ala330Glu)
c.200C>A (p.Ala67Glu)
c.2027C>A (p.Ala676Glu)
c.1454C>A (p.Ala485Glu)
c.1379C>A (p.Ala460Glu)
c.56C>A (p.Ala19Glu)
3g.38904056C>ACA352164825SCN11Ac.1651G>T (p.Ala551Ser)
c.1471G>T (p.Ala491Ser)
c.1695G>T (n.1695G>T)
c.988G>T (p.Ala330Ser)
c.199G>T (p.Ala67Ser)
c.2026G>T (p.Ala676Ser)
c.1453G>T (p.Ala485Ser)
c.1378G>T (p.Ala460Ser)
c.55G>T (p.Ala19Ser)
 gnomAD v4
3g.38904056C>GCA352164824SCN11Ac.1651G>C (p.Ala551Pro)
c.1471G>C (p.Ala491Pro)
c.1695G>C (n.1695G>C)
c.988G>C (p.Ala330Pro)
c.199G>C (p.Ala67Pro)
c.2026G>C (p.Ala676Pro)
c.1453G>C (p.Ala485Pro)
c.1378G>C (p.Ala460Pro)
c.55G>C (p.Ala19Pro)
3g.38904056C>TCA352164826SCN11Ac.1651G>A (p.Ala551Thr)
c.1471G>A (p.Ala491Thr)
c.1695G>A (n.1695G>A)
c.988G>A (p.Ala330Thr)
c.199G>A (p.Ala67Thr)
c.2026G>A (p.Ala676Thr)
c.1453G>A (p.Ala485Thr)
c.1378G>A (p.Ala460Thr)
c.55G>A (p.Ala19Thr)
3g.38904057C>ACA433336349SCN11Ac.1650G>T (p.Leu550=)
c.1470G>T (p.Leu490=)
c.1694G>T (n.1694G>T)
c.987G>T (p.Leu329=)
c.198G>T (p.Leu66=)
c.2025G>T (p.Leu675=)
c.1452G>T (p.Leu484=)
c.1377G>T (p.Leu459=)
c.54G>T (p.Leu18=)
 gnomAD v4
3g.38904057C>GCA433336350SCN11Ac.1650G>C (p.Leu550=)
c.1470G>C (p.Leu490=)
c.1694G>C (n.1694G>C)
c.987G>C (p.Leu329=)
c.198G>C (p.Leu66=)
c.2025G>C (p.Leu675=)
c.1452G>C (p.Leu484=)
c.1377G>C (p.Leu459=)
c.54G>C (p.Leu18=)
 gnomAD v4
3g.38904057C>TCA433336351SCN11Ac.1650G>A (p.Leu550=)
c.1470G>A (p.Leu490=)
c.1694G>A (n.1694G>A)
c.987G>A (p.Leu329=)
c.198G>A (p.Leu66=)
c.2025G>A (p.Leu675=)
c.1452G>A (p.Leu484=)
c.1377G>A (p.Leu459=)
c.54G>A (p.Leu18=)
3g.38904058A=CA1358721657SCN11Ac.1649T= (p.Leu550=)
c.1469T= (p.Leu490=)
c.1693T= (n.1693T=)
c.986T= (p.Leu329=)
c.197T= (p.Leu66=)
c.2024T= (p.Leu675=)
c.1451T= (p.Leu484=)
c.1376T= (p.Leu459=)
c.53T= (p.Leu18=)
3g.38904058A>CCA352164827SCN11Ac.1649T>G (p.Leu550Arg)
c.1469T>G (p.Leu490Arg)
c.1693T>G (n.1693T>G)
c.986T>G (p.Leu329Arg)
c.197T>G (p.Leu66Arg)
c.2024T>G (p.Leu675Arg)
c.1451T>G (p.Leu484Arg)
c.1376T>G (p.Leu459Arg)
c.53T>G (p.Leu18Arg)
3g.38904058A>GCA2322246SCN11Ac.1649T>C (p.Leu550Pro)
c.1469T>C (p.Leu490Pro)
c.1693T>C (n.1693T>C)
c.986T>C (p.Leu329Pro)
c.197T>C (p.Leu66Pro)
c.2024T>C (p.Leu675Pro)
c.1451T>C (p.Leu484Pro)
c.1376T>C (p.Leu459Pro)
c.53T>C (p.Leu18Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38904058A>TCA352164828SCN11Ac.1649T>A (p.Leu550Gln)
c.1469T>A (p.Leu490Gln)
c.1693T>A (n.1693T>A)
c.986T>A (p.Leu329Gln)
c.197T>A (p.Leu66Gln)
c.2024T>A (p.Leu675Gln)
c.1451T>A (p.Leu484Gln)
c.1376T>A (p.Leu459Gln)
c.53T>A (p.Leu18Gln)
3g.38904059G>ACA433336352SCN11Ac.1648C>T (p.Leu550=)
c.1468C>T (p.Leu490=)
c.1692C>T (n.1692C>T)
c.985C>T (p.Leu329=)
c.196C>T (p.Leu66=)
c.2023C>T (p.Leu675=)
c.1450C>T (p.Leu484=)
c.1375C>T (p.Leu459=)
c.52C>T (p.Leu18=)
3g.38904059G>CCA352164829SCN11Ac.1648C>G (p.Leu550Val)
c.1468C>G (p.Leu490Val)
c.1692C>G (n.1692C>G)
c.985C>G (p.Leu329Val)
c.196C>G (p.Leu66Val)
c.2023C>G (p.Leu675Val)
c.1450C>G (p.Leu484Val)
c.1375C>G (p.Leu459Val)
c.52C>G (p.Leu18Val)
3g.38904059G>TCA352164830SCN11Ac.1648C>A (p.Leu550Met)
c.1468C>A (p.Leu490Met)
c.1692C>A (n.1692C>A)
c.985C>A (p.Leu329Met)
c.196C>A (p.Leu66Met)
c.2023C>A (p.Leu675Met)
c.1450C>A (p.Leu484Met)
c.1375C>A (p.Leu459Met)
c.52C>A (p.Leu18Met)
3g.38904060G>ACA433336353SCN11Ac.1647C>T (p.Asn549=)
c.1467C>T (p.Asn489=)
c.1691C>T (n.1691C>T)
c.984C>T (p.Asn328=)
c.195C>T (p.Asn65=)
c.2022C>T (p.Asn674=)
c.1449C>T (p.Asn483=)
c.1374C>T (p.Asn458=)
c.51C>T (p.Asn17=)
3g.38904060G>CCA352164831SCN11Ac.1647C>G (p.Asn549Lys)
c.1467C>G (p.Asn489Lys)
c.1691C>G (n.1691C>G)
c.984C>G (p.Asn328Lys)
c.195C>G (p.Asn65Lys)
c.2022C>G (p.Asn674Lys)
c.1449C>G (p.Asn483Lys)
c.1374C>G (p.Asn458Lys)
c.51C>G (p.Asn17Lys)
3g.38904060G>TCA352164832SCN11Ac.1647C>A (p.Asn549Lys)
c.1467C>A (p.Asn489Lys)
c.1691C>A (n.1691C>A)
c.984C>A (p.Asn328Lys)
c.195C>A (p.Asn65Lys)
c.2022C>A (p.Asn674Lys)
c.1449C>A (p.Asn483Lys)
c.1374C>A (p.Asn458Lys)
c.51C>A (p.Asn17Lys)
3g.38904061T>ACA352164833SCN11Ac.1646A>T (p.Asn549Ile)
c.1466A>T (p.Asn489Ile)
c.1690A>T (n.1690A>T)
c.983A>T (p.Asn328Ile)
c.194A>T (p.Asn65Ile)
c.2021A>T (p.Asn674Ile)
c.1448A>T (p.Asn483Ile)
c.1373A>T (p.Asn458Ile)
c.50A>T (p.Asn17Ile)
3g.38904061T>CCA352164834SCN11Ac.1646A>G (p.Asn549Ser)
c.1466A>G (p.Asn489Ser)
c.1690A>G (n.1690A>G)
c.983A>G (p.Asn328Ser)
c.194A>G (p.Asn65Ser)
c.2021A>G (p.Asn674Ser)
c.1448A>G (p.Asn483Ser)
c.1373A>G (p.Asn458Ser)
c.50A>G (p.Asn17Ser)
3g.38904061T>GCA352164835SCN11Ac.1646A>C (p.Asn549Thr)
c.1466A>C (p.Asn489Thr)
c.1690A>C (n.1690A>C)
c.983A>C (p.Asn328Thr)
c.194A>C (p.Asn65Thr)
c.2021A>C (p.Asn674Thr)
c.1448A>C (p.Asn483Thr)
c.1373A>C (p.Asn458Thr)
c.50A>C (p.Asn17Thr)
3g.38904062T>ACA352164836SCN11Ac.1645A>T (p.Asn549Tyr)
c.1465A>T (p.Asn489Tyr)
c.1689A>T (n.1689A>T)
c.982A>T (p.Asn328Tyr)
c.193A>T (p.Asn65Tyr)
c.2020A>T (p.Asn674Tyr)
c.1447A>T (p.Asn483Tyr)
c.1372A>T (p.Asn458Tyr)
c.49A>T (p.Asn17Tyr)
3g.38904062T>CCA352164837SCN11Ac.1645A>G (p.Asn549Asp)
c.1465A>G (p.Asn489Asp)
c.1689A>G (n.1689A>G)
c.982A>G (p.Asn328Asp)
c.193A>G (p.Asn65Asp)
c.2020A>G (p.Asn674Asp)
c.1447A>G (p.Asn483Asp)
c.1372A>G (p.Asn458Asp)
c.49A>G (p.Asn17Asp)
3g.38904062T>GCA352164838SCN11Ac.1645A>C (p.Asn549His)
c.1465A>C (p.Asn489His)
c.1689A>C (n.1689A>C)
c.982A>C (p.Asn328His)
c.193A>C (p.Asn65His)
c.2020A>C (p.Asn674His)
c.1447A>C (p.Asn483His)
c.1372A>C (p.Asn458His)
c.49A>C (p.Asn17His)
3g.38904063T>ACA352164840SCN11Ac.1644A>T (p.Glu548Asp)
c.1464A>T (p.Glu488Asp)
c.1688A>T (n.1688A>T)
c.981A>T (p.Glu327Asp)
c.192A>T (p.Glu64Asp)
c.2019A>T (p.Glu673Asp)
c.1446A>T (p.Glu482Asp)
c.1371A>T (p.Glu457Asp)
c.48A>T (p.Glu16Asp)
3g.38904063T>CCA433336357SCN11Ac.1644A>G (p.Glu548=)
c.1464A>G (p.Glu488=)
c.1688A>G (n.1688A>G)
c.981A>G (p.Glu327=)
c.192A>G (p.Glu64=)
c.2019A>G (p.Glu673=)
c.1446A>G (p.Glu482=)
c.1371A>G (p.Glu457=)
c.48A>G (p.Glu16=)
 ClinVar dbSNP gnomAD v4
3g.38904063T>GCA352164839SCN11Ac.1644A>C (p.Glu548Asp)
c.1464A>C (p.Glu488Asp)
c.1688A>C (n.1688A>C)
c.981A>C (p.Glu327Asp)
c.192A>C (p.Glu64Asp)
c.2019A>C (p.Glu673Asp)
c.1446A>C (p.Glu482Asp)
c.1371A>C (p.Glu457Asp)
c.48A>C (p.Glu16Asp)
3g.38904064T>ACA352164841SCN11Ac.1643A>T (p.Glu548Val)
c.1463A>T (p.Glu488Val)
c.1687A>T (n.1687A>T)
c.980A>T (p.Glu327Val)
c.191A>T (p.Glu64Val)
c.2018A>T (p.Glu673Val)
c.1445A>T (p.Glu482Val)
c.1370A>T (p.Glu457Val)
c.47A>T (p.Glu16Val)
3g.38904064T>CCA352164842SCN11Ac.1643A>G (p.Glu548Gly)
c.1463A>G (p.Glu488Gly)
c.1687A>G (n.1687A>G)
c.980A>G (p.Glu327Gly)
c.191A>G (p.Glu64Gly)
c.2018A>G (p.Glu673Gly)
c.1445A>G (p.Glu482Gly)
c.1370A>G (p.Glu457Gly)
c.47A>G (p.Glu16Gly)
3g.38904064T>GCA352164843SCN11Ac.1643A>C (p.Glu548Ala)
c.1463A>C (p.Glu488Ala)
c.1687A>C (n.1687A>C)
c.980A>C (p.Glu327Ala)
c.191A>C (p.Glu64Ala)
c.2018A>C (p.Glu673Ala)
c.1445A>C (p.Glu482Ala)
c.1370A>C (p.Glu457Ala)
c.47A>C (p.Glu16Ala)
3g.38904065C>ACA352164844SCN11Ac.1642G>T (p.Glu548Ter)
c.1462G>T (p.Glu488Ter)
c.1686G>T (n.1686G>T)
c.979G>T (p.Glu327Ter)
c.190G>T (p.Glu64Ter)
c.2017G>T (p.Glu673Ter)
c.1444G>T (p.Glu482Ter)
c.1369G>T (p.Glu457Ter)
c.46G>T (p.Glu16Ter)
 dbSNP
3g.38904065C=CA1358721659SCN11Ac.1642G= (p.Glu548=)
c.1462G= (p.Glu488=)
c.1686G= (n.1686G=)
c.979G= (p.Glu327=)
c.190G= (p.Glu64=)
c.2017G= (p.Glu673=)
c.1444G= (p.Glu482=)
c.1369G= (p.Glu457=)
c.46G= (p.Glu16=)
3g.38904065C>GCA352164845SCN11Ac.1642G>C (p.Glu548Gln)
c.1462G>C (p.Glu488Gln)
c.1686G>C (n.1686G>C)
c.979G>C (p.Glu327Gln)
c.190G>C (p.Glu64Gln)
c.2017G>C (p.Glu673Gln)
c.1444G>C (p.Glu482Gln)
c.1369G>C (p.Glu457Gln)
c.46G>C (p.Glu16Gln)
3g.38904065C>TCA352164846SCN11Ac.1642G>A (p.Glu548Lys)
c.1462G>A (p.Glu488Lys)
c.1686G>A (n.1686G>A)
c.979G>A (p.Glu327Lys)
c.190G>A (p.Glu64Lys)
c.2017G>A (p.Glu673Lys)
c.1444G>A (p.Glu482Lys)
c.1369G>A (p.Glu457Lys)
c.46G>A (p.Glu16Lys)
 dbSNP gnomAD v2 gnomAD v4
3g.38904066T>ACA433336358SCN11Ac.1641A>T (p.Gly547=)
c.1461A>T (p.Gly487=)
c.1685A>T (n.1685A>T)
c.978A>T (p.Gly326=)
c.189A>T (p.Gly63=)
c.2016A>T (p.Gly672=)
c.1443A>T (p.Gly481=)
c.1368A>T (p.Gly456=)
c.45A>T (p.Gly15=)
3g.38904066T>CCA433336359SCN11Ac.1641A>G (p.Gly547=)
c.1461A>G (p.Gly487=)
c.1685A>G (n.1685A>G)
c.978A>G (p.Gly326=)
c.189A>G (p.Gly63=)
c.2016A>G (p.Gly672=)
c.1443A>G (p.Gly481=)
c.1368A>G (p.Gly456=)
c.45A>G (p.Gly15=)
3g.38904066T>GCA433336360SCN11Ac.1641A>C (p.Gly547=)
c.1461A>C (p.Gly487=)
c.1685A>C (n.1685A>C)
c.978A>C (p.Gly326=)
c.189A>C (p.Gly63=)
c.2016A>C (p.Gly672=)
c.1443A>C (p.Gly481=)
c.1368A>C (p.Gly456=)
c.45A>C (p.Gly15=)
3g.38904067C>ACA352164847SCN11Ac.1640G>T (p.Gly547Val)
c.1460G>T (p.Gly487Val)
c.1684G>T (n.1684G>T)
c.977G>T (p.Gly326Val)
c.188G>T (p.Gly63Val)
c.2015G>T (p.Gly672Val)
c.1442G>T (p.Gly481Val)
c.1367G>T (p.Gly456Val)
c.44G>T (p.Gly15Val)
3g.38904067C>GCA352164848SCN11Ac.1640G>C (p.Gly547Ala)
c.1460G>C (p.Gly487Ala)
c.1684G>C (n.1684G>C)
c.977G>C (p.Gly326Ala)
c.188G>C (p.Gly63Ala)
c.2015G>C (p.Gly672Ala)
c.1442G>C (p.Gly481Ala)
c.1367G>C (p.Gly456Ala)
c.44G>C (p.Gly15Ala)
3g.38904067C>TCA352164849SCN11Ac.1640G>A (p.Gly547Glu)
c.1460G>A (p.Gly487Glu)
c.1684G>A (n.1684G>A)
c.977G>A (p.Gly326Glu)
c.188G>A (p.Gly63Glu)
c.2015G>A (p.Gly672Glu)
c.1442G>A (p.Gly481Glu)
c.1367G>A (p.Gly456Glu)
c.44G>A (p.Gly15Glu)
3g.38904068C>ACA352164850SCN11Ac.1639G>T (p.Gly547Ter)
c.1459G>T (p.Gly487Ter)
c.1683G>T (n.1683G>T)
c.976G>T (p.Gly326Ter)
c.187G>T (p.Gly63Ter)
c.2014G>T (p.Gly672Ter)
c.1441G>T (p.Gly481Ter)
c.1366G>T (p.Gly456Ter)
c.43G>T (p.Gly15Ter)
 dbSNP COSMIC
3g.38904068C=CA1358721665SCN11Ac.1639G= (p.Gly547=)
c.1459G= (p.Gly487=)
c.1683G= (n.1683G=)
c.976G= (p.Gly326=)
c.187G= (p.Gly63=)
c.2014G= (p.Gly672=)
c.1441G= (p.Gly481=)
c.1366G= (p.Gly456=)
c.43G= (p.Gly15=)
3g.38904068C>GCA352164851SCN11Ac.1639G>C (p.Gly547Arg)
c.1459G>C (p.Gly487Arg)
c.1683G>C (n.1683G>C)
c.976G>C (p.Gly326Arg)
c.187G>C (p.Gly63Arg)
c.2014G>C (p.Gly672Arg)
c.1441G>C (p.Gly481Arg)
c.1366G>C (p.Gly456Arg)
c.43G>C (p.Gly15Arg)
3g.38904068C>TCA352164852SCN11Ac.1639G>A (p.Gly547Arg)
c.1459G>A (p.Gly487Arg)
c.1683G>A (n.1683G>A)
c.976G>A (p.Gly326Arg)
c.187G>A (p.Gly63Arg)
c.2014G>A (p.Gly672Arg)
c.1441G>A (p.Gly481Arg)
c.1366G>A (p.Gly456Arg)
c.43G>A (p.Gly15Arg)
 gnomAD v4
3g.38904068_38904069delinsTGCA2573136998SCN11Ac.1638_1639delinsCA (p.Gly547Arg)
c.1458_1459delinsCA (p.Gly487Arg)
c.1682_1683delinsCA (n.1682_1683delinsCA)
c.975_976delinsCA (p.Gly326Arg)
c.186_187delinsCA (p.Gly63Arg)
c.2013_2014delinsCA (p.Gly672Arg)
c.1440_1441delinsCA (p.Gly481Arg)
c.1365_1366delinsCA (p.Gly456Arg)
c.42_43delinsCA (p.Gly15Arg)
 ClinVar
3g.38904069A=CA1358721669SCN11Ac.1638T= (p.Cys546=)
c.1458T= (p.Cys486=)
c.1682T= (n.1682T=)
c.975T= (p.Cys325=)
c.186T= (p.Cys62=)
c.2013T= (p.Cys671=)
c.1440T= (p.Cys480=)
c.1365T= (p.Cys455=)
c.42T= (p.Cys14=)
3g.38904069A>CCA352164854SCN11Ac.1638T>G (p.Cys546Trp)
c.1458T>G (p.Cys486Trp)
c.1682T>G (n.1682T>G)
c.975T>G (p.Cys325Trp)
c.186T>G (p.Cys62Trp)
c.2013T>G (p.Cys671Trp)
c.1440T>G (p.Cys480Trp)
c.1365T>G (p.Cys455Trp)
c.42T>G (p.Cys14Trp)
3g.38904069A>GCA2322247SCN11Ac.1638T>C (p.Cys546=)
c.1458T>C (p.Cys486=)
c.1682T>C (n.1682T>C)
c.975T>C (p.Cys325=)
c.186T>C (p.Cys62=)
c.2013T>C (p.Cys671=)
c.1440T>C (p.Cys480=)
c.1365T>C (p.Cys455=)
c.42T>C (p.Cys14=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38904069A>TCA352164853SCN11Ac.1638T>A (p.Cys546Ter)
c.1458T>A (p.Cys486Ter)
c.1682T>A (n.1682T>A)
c.975T>A (p.Cys325Ter)
c.186T>A (p.Cys62Ter)
c.2013T>A (p.Cys671Ter)
c.1440T>A (p.Cys480Ter)
c.1365T>A (p.Cys455Ter)
c.42T>A (p.Cys14Ter)
 gnomAD v4
3g.38904070C>ACA352164855SCN11Ac.1637G>T (p.Cys546Phe)
c.1457G>T (p.Cys486Phe)
c.1681G>T (n.1681G>T)
c.974G>T (p.Cys325Phe)
c.185G>T (p.Cys62Phe)
c.2012G>T (p.Cys671Phe)
c.1439G>T (p.Cys480Phe)
c.1364G>T (p.Cys455Phe)
c.41G>T (p.Cys14Phe)
 gnomAD v4
3g.38904070C>GCA352164856SCN11Ac.1637G>C (p.Cys546Ser)
c.1457G>C (p.Cys486Ser)
c.1681G>C (n.1681G>C)
c.974G>C (p.Cys325Ser)
c.185G>C (p.Cys62Ser)
c.2012G>C (p.Cys671Ser)
c.1439G>C (p.Cys480Ser)
c.1364G>C (p.Cys455Ser)
c.41G>C (p.Cys14Ser)
3g.38904070C>TCA352164857SCN11Ac.1637G>A (p.Cys546Tyr)
c.1457G>A (p.Cys486Tyr)
c.1681G>A (n.1681G>A)
c.974G>A (p.Cys325Tyr)
c.185G>A (p.Cys62Tyr)
c.2012G>A (p.Cys671Tyr)
c.1439G>A (p.Cys480Tyr)
c.1364G>A (p.Cys455Tyr)
c.41G>A (p.Cys14Tyr)
3g.38904071A>CCA352164858SCN11Ac.1636T>G (p.Cys546Gly)
c.1456T>G (p.Cys486Gly)
c.1680T>G (n.1680T>G)
c.973T>G (p.Cys325Gly)
c.184T>G (p.Cys62Gly)
c.2011T>G (p.Cys671Gly)
c.1438T>G (p.Cys480Gly)
c.1363T>G (p.Cys455Gly)
c.40T>G (p.Cys14Gly)
3g.38904071A>GCA352164859SCN11Ac.1636T>C (p.Cys546Arg)
c.1456T>C (p.Cys486Arg)
c.1680T>C (n.1680T>C)
c.973T>C (p.Cys325Arg)
c.184T>C (p.Cys62Arg)
c.2011T>C (p.Cys671Arg)
c.1438T>C (p.Cys480Arg)
c.1363T>C (p.Cys455Arg)
c.40T>C (p.Cys14Arg)
3g.38904071A>TCA352164860SCN11Ac.1636T>A (p.Cys546Ser)
c.1456T>A (p.Cys486Ser)
c.1680T>A (n.1680T>A)
c.973T>A (p.Cys325Ser)
c.184T>A (p.Cys62Ser)
c.2011T>A (p.Cys671Ser)
c.1438T>A (p.Cys480Ser)
c.1363T>A (p.Cys455Ser)
c.40T>A (p.Cys14Ser)
3g.38904072A=CA1358721671SCN11Ac.1635T= (p.Pro545=)
c.1455T= (p.Pro485=)
c.1679T= (n.1679T=)
c.972T= (p.Pro324=)
c.183T= (p.Pro61=)
c.2010T= (p.Pro670=)
c.1437T= (p.Pro479=)
c.1362T= (p.Pro454=)
c.39T= (p.Pro13=)
3g.38904072A>CCA433336365SCN11Ac.1635T>G (p.Pro545=)
c.1455T>G (p.Pro485=)
c.1679T>G (n.1679T>G)
c.972T>G (p.Pro324=)
c.183T>G (p.Pro61=)
c.2010T>G (p.Pro670=)
c.1437T>G (p.Pro479=)
c.1362T>G (p.Pro454=)
c.39T>G (p.Pro13=)
3g.38904072A>GCA2322248SCN11Ac.1635T>C (p.Pro545=)
c.1455T>C (p.Pro485=)
c.1679T>C (n.1679T>C)
c.972T>C (p.Pro324=)
c.183T>C (p.Pro61=)
c.2010T>C (p.Pro670=)
c.1437T>C (p.Pro479=)
c.1362T>C (p.Pro454=)
c.39T>C (p.Pro13=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38904072A>TCA433336368SCN11Ac.1635T>A (p.Pro545=)
c.1455T>A (p.Pro485=)
c.1679T>A (n.1679T>A)
c.972T>A (p.Pro324=)
c.183T>A (p.Pro61=)
c.2010T>A (p.Pro670=)
c.1437T>A (p.Pro479=)
c.1362T>A (p.Pro454=)
c.39T>A (p.Pro13=)
3g.38904073G>ACA352164861SCN11Ac.1634C>T (p.Pro545Leu)
c.1454C>T (p.Pro485Leu)
c.1678C>T (n.1678C>T)
c.971C>T (p.Pro324Leu)
c.182C>T (p.Pro61Leu)
c.2009C>T (p.Pro670Leu)
c.1436C>T (p.Pro479Leu)
c.1361C>T (p.Pro454Leu)
c.38C>T (p.Pro13Leu)
 dbSNP gnomAD v2
3g.38904073G>CCA352164863SCN11Ac.1634C>G (p.Pro545Arg)
c.1454C>G (p.Pro485Arg)
c.1678C>G (n.1678C>G)
c.971C>G (p.Pro324Arg)
c.182C>G (p.Pro61Arg)
c.2009C>G (p.Pro670Arg)
c.1436C>G (p.Pro479Arg)
c.1361C>G (p.Pro454Arg)
c.38C>G (p.Pro13Arg)
3g.38904073G=CA1358721674SCN11Ac.1634C= (p.Pro545=)
c.1454C= (p.Pro485=)
c.1678C= (n.1678C=)
c.971C= (p.Pro324=)
c.182C= (p.Pro61=)
c.2009C= (p.Pro670=)
c.1436C= (p.Pro479=)
c.1361C= (p.Pro454=)
c.38C= (p.Pro13=)
3g.38904073G>TCA352164862SCN11Ac.1634C>A (p.Pro545His)
c.1454C>A (p.Pro485His)
c.1678C>A (n.1678C>A)
c.971C>A (p.Pro324His)
c.182C>A (p.Pro61His)
c.2009C>A (p.Pro670His)
c.1436C>A (p.Pro479His)
c.1361C>A (p.Pro454His)
c.38C>A (p.Pro13His)
3g.38904074G>ACA352164864SCN11Ac.1633C>T (p.Pro545Ser)
c.1453C>T (p.Pro485Ser)
c.1677C>T (n.1677C>T)
c.970C>T (p.Pro324Ser)
c.181C>T (p.Pro61Ser)
c.2008C>T (p.Pro670Ser)
c.1435C>T (p.Pro479Ser)
c.1360C>T (p.Pro454Ser)
c.37C>T (p.Pro13Ser)
3g.38904074G>CCA352164865SCN11Ac.1633C>G (p.Pro545Ala)
c.1453C>G (p.Pro485Ala)
c.1677C>G (n.1677C>G)
c.970C>G (p.Pro324Ala)
c.181C>G (p.Pro61Ala)
c.2008C>G (p.Pro670Ala)
c.1435C>G (p.Pro479Ala)
c.1360C>G (p.Pro454Ala)
c.37C>G (p.Pro13Ala)
3g.38904074G>TCA352164866SCN11Ac.1633C>A (p.Pro545Thr)
c.1453C>A (p.Pro485Thr)
c.1677C>A (n.1677C>A)
c.970C>A (p.Pro324Thr)
c.181C>A (p.Pro61Thr)
c.2008C>A (p.Pro670Thr)
c.1435C>A (p.Pro479Thr)
c.1360C>A (p.Pro454Thr)
c.37C>A (p.Pro13Thr)
3g.38904075G>ACA433336373SCN11Ac.1632C>T (p.Leu544=)
c.1452C>T (p.Leu484=)
c.1676C>T (n.1676C>T)
c.969C>T (p.Leu323=)
c.180C>T (p.Leu60=)
c.2007C>T (p.Leu669=)
c.1434C>T (p.Leu478=)
c.1359C>T (p.Leu453=)
c.36C>T (p.Leu12=)
 COSMIC
3g.38904075G>CCA433336374SCN11Ac.1632C>G (p.Leu544=)
c.1452C>G (p.Leu484=)
c.1676C>G (n.1676C>G)
c.969C>G (p.Leu323=)
c.180C>G (p.Leu60=)
c.2007C>G (p.Leu669=)
c.1434C>G (p.Leu478=)
c.1359C>G (p.Leu453=)
c.36C>G (p.Leu12=)
 dbSNP
3g.38904075G=CA1358721677SCN11Ac.1632C= (p.Leu544=)
c.1452C= (p.Leu484=)
c.1676C= (n.1676C=)
c.969C= (p.Leu323=)
c.180C= (p.Leu60=)
c.2007C= (p.Leu669=)
c.1434C= (p.Leu478=)
c.1359C= (p.Leu453=)
c.36C= (p.Leu12=)
3g.38904075G>TCA2322249SCN11Ac.1632C>A (p.Leu544=)
c.1452C>A (p.Leu484=)
c.1676C>A (n.1676C>A)
c.969C>A (p.Leu323=)
c.180C>A (p.Leu60=)
c.2007C>A (p.Leu669=)
c.1434C>A (p.Leu478=)
c.1359C>A (p.Leu453=)
c.36C>A (p.Leu12=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38904076A>CCA352164867SCN11Ac.1631T>G (p.Leu544Arg)
c.1451T>G (p.Leu484Arg)
c.1675T>G (n.1675T>G)
c.968T>G (p.Leu323Arg)
c.179T>G (p.Leu60Arg)
c.2006T>G (p.Leu669Arg)
c.1433T>G (p.Leu478Arg)
c.1358T>G (p.Leu453Arg)
c.35T>G (p.Leu12Arg)
3g.38904076A>GCA352164869SCN11Ac.1631T>C (p.Leu544Pro)
c.1451T>C (p.Leu484Pro)
c.1675T>C (n.1675T>C)
c.968T>C (p.Leu323Pro)
c.179T>C (p.Leu60Pro)
c.2006T>C (p.Leu669Pro)
c.1433T>C (p.Leu478Pro)
c.1358T>C (p.Leu453Pro)
c.35T>C (p.Leu12Pro)
3g.38904076A>TCA352164868SCN11Ac.1631T>A (p.Leu544His)
c.1451T>A (p.Leu484His)
c.1675T>A (n.1675T>A)
c.968T>A (p.Leu323His)
c.179T>A (p.Leu60His)
c.2006T>A (p.Leu669His)
c.1433T>A (p.Leu478His)
c.1358T>A (p.Leu453His)
c.35T>A (p.Leu12His)
3g.38904077G>ACA352164870SCN11Ac.1630C>T (p.Leu544Phe)
c.1450C>T (p.Leu484Phe)
c.1674C>T (n.1674C>T)
c.967C>T (p.Leu323Phe)
c.178C>T (p.Leu60Phe)
c.2005C>T (p.Leu669Phe)
c.1432C>T (p.Leu478Phe)
c.1357C>T (p.Leu453Phe)
c.34C>T (p.Leu12Phe)
3g.38904077G>CCA352164871SCN11Ac.1630C>G (p.Leu544Val)
c.1450C>G (p.Leu484Val)
c.1674C>G (n.1674C>G)
c.967C>G (p.Leu323Val)
c.178C>G (p.Leu60Val)
c.2005C>G (p.Leu669Val)
c.1432C>G (p.Leu478Val)
c.1357C>G (p.Leu453Val)
c.34C>G (p.Leu12Val)
3g.38904077G>TCA352164872SCN11Ac.1630C>A (p.Leu544Ile)
c.1450C>A (p.Leu484Ile)
c.1674C>A (n.1674C>A)
c.967C>A (p.Leu323Ile)
c.178C>A (p.Leu60Ile)
c.2005C>A (p.Leu669Ile)
c.1432C>A (p.Leu478Ile)
c.1357C>A (p.Leu453Ile)
c.34C>A (p.Leu12Ile)
3g.38904078A=CA1358721682SCN11Ac.1629T= (p.Cys543=)
c.1449T= (p.Cys483=)
c.1673T= (n.1673T=)
c.966T= (p.Cys322=)
c.177T= (p.Cys59=)
c.2004T= (p.Cys668=)
c.1431T= (p.Cys477=)
c.1356T= (p.Cys452=)
c.33T= (p.Cys11=)
3g.38904078A>CCA352164873SCN11Ac.1629T>G (p.Cys543Trp)
c.1449T>G (p.Cys483Trp)
c.1673T>G (n.1673T>G)
c.966T>G (p.Cys322Trp)
c.177T>G (p.Cys59Trp)
c.2004T>G (p.Cys668Trp)
c.1431T>G (p.Cys477Trp)
c.1356T>G (p.Cys452Trp)
c.33T>G (p.Cys11Trp)
3g.38904078A>GCA433336377SCN11Ac.1629T>C (p.Cys543=)
c.1449T>C (p.Cys483=)
c.1673T>C (n.1673T>C)
c.966T>C (p.Cys322=)
c.177T>C (p.Cys59=)
c.2004T>C (p.Cys668=)
c.1431T>C (p.Cys477=)
c.1356T>C (p.Cys452=)
c.33T>C (p.Cys11=)
3g.38904078A>TCA352164874SCN11Ac.1629T>A (p.Cys543Ter)
c.1449T>A (p.Cys483Ter)
c.1673T>A (n.1673T>A)
c.966T>A (p.Cys322Ter)
c.177T>A (p.Cys59Ter)
c.2004T>A (p.Cys668Ter)
c.1431T>A (p.Cys477Ter)
c.1356T>A (p.Cys452Ter)
c.33T>A (p.Cys11Ter)
 dbSNP
3g.38904079C>ACA352164875SCN11Ac.1628G>T (p.Cys543Phe)
c.1448G>T (p.Cys483Phe)
c.1672G>T (n.1672G>T)
c.965G>T (p.Cys322Phe)
c.176G>T (p.Cys59Phe)
c.2003G>T (p.Cys668Phe)
c.1430G>T (p.Cys477Phe)
c.1355G>T (p.Cys452Phe)
c.32G>T (p.Cys11Phe)
 gnomAD v4
3g.38904079C>GCA352164876SCN11Ac.1628G>C (p.Cys543Ser)
c.1448G>C (p.Cys483Ser)
c.1672G>C (n.1672G>C)
c.965G>C (p.Cys322Ser)
c.176G>C (p.Cys59Ser)
c.2003G>C (p.Cys668Ser)
c.1430G>C (p.Cys477Ser)
c.1355G>C (p.Cys452Ser)
c.32G>C (p.Cys11Ser)
3g.38904079C>TCA352164877SCN11Ac.1628G>A (p.Cys543Tyr)
c.1448G>A (p.Cys483Tyr)
c.1672G>A (n.1672G>A)
c.965G>A (p.Cys322Tyr)
c.176G>A (p.Cys59Tyr)
c.2003G>A (p.Cys668Tyr)
c.1430G>A (p.Cys477Tyr)
c.1355G>A (p.Cys452Tyr)
c.32G>A (p.Cys11Tyr)
3g.38904079_38904080delinsCACA1358721686SCN11Ac.1627_1628delinsTG (p.Cys543=)
c.1447_1448delinsTG (p.Cys483=)
c.1671_1672delinsTG (n.1671_1672delinsTG)
c.964_965delinsTG (p.Cys322=)
c.175_176delinsTG (p.Cys59=)
c.2002_2003delinsTG (p.Cys668=)
c.1429_1430delinsTG (p.Cys477=)
c.1354_1355delinsTG (p.Cys452=)
c.31_32delinsTG (p.Cys11=)
3g.38904080A>CCA352164878SCN11Ac.1627T>G (p.Cys543Gly)
c.1447T>G (p.Cys483Gly)
c.1671T>G (n.1671T>G)
c.964T>G (p.Cys322Gly)
c.175T>G (p.Cys59Gly)
c.2002T>G (p.Cys668Gly)
c.1429T>G (p.Cys477Gly)
c.1354T>G (p.Cys452Gly)
c.31T>G (p.Cys11Gly)
3g.38904080A>GCA352164879SCN11Ac.1627T>C (p.Cys543Arg)
c.1447T>C (p.Cys483Arg)
c.1671T>C (n.1671T>C)
c.964T>C (p.Cys322Arg)
c.175T>C (p.Cys59Arg)
c.2002T>C (p.Cys668Arg)
c.1429T>C (p.Cys477Arg)
c.1354T>C (p.Cys452Arg)
c.31T>C (p.Cys11Arg)
 gnomAD v4
3g.38904080A>TCA352164880SCN11Ac.1627T>A (p.Cys543Ser)
c.1447T>A (p.Cys483Ser)
c.1671T>A (n.1671T>A)
c.964T>A (p.Cys322Ser)
c.175T>A (p.Cys59Ser)
c.2002T>A (p.Cys668Ser)
c.1429T>A (p.Cys477Ser)
c.1354T>A (p.Cys452Ser)
c.31T>A (p.Cys11Ser)
3g.38904081delCA72961769SCN11Ac.1627del (p.Cys543ValfsTer28)
c.1447del (p.Cys483ValfsTer28)
c.1671del (n.1671del)
c.964del (p.Cys322ValfsTer28)
c.175del (p.Cys59ValfsTer28)
c.2002del (p.Cys668ValfsTer28)
c.1429del (p.Cys477ValfsTer28)
c.1354del (p.Cys452ValfsTer28)
c.31del (p.Cys11ValfsTer28)
 dbSNP
3g.38904081A=CA1358721688SCN11Ac.1626T= (p.Pro542=)
c.1446T= (p.Pro482=)
c.1670T= (n.1670T=)
c.963T= (p.Pro321=)
c.174T= (p.Pro58=)
c.2001T= (p.Pro667=)
c.1428T= (p.Pro476=)
c.1353T= (p.Pro451=)
c.30T= (p.Pro10=)
3g.38904081A>CCA433336381SCN11Ac.1626T>G (p.Pro542=)
c.1446T>G (p.Pro482=)
c.1670T>G (n.1670T>G)
c.963T>G (p.Pro321=)
c.174T>G (p.Pro58=)
c.2001T>G (p.Pro667=)
c.1428T>G (p.Pro476=)
c.1353T>G (p.Pro451=)
c.30T>G (p.Pro10=)
3g.38904081A>GCA433336382SCN11Ac.1626T>C (p.Pro542=)
c.1446T>C (p.Pro482=)
c.1670T>C (n.1670T>C)
c.963T>C (p.Pro321=)
c.174T>C (p.Pro58=)
c.2001T>C (p.Pro667=)
c.1428T>C (p.Pro476=)
c.1353T>C (p.Pro451=)
c.30T>C (p.Pro10=)
 dbSNP
3g.38904081A>TCA433336383SCN11Ac.1626T>A (p.Pro542=)
c.1446T>A (p.Pro482=)
c.1670T>A (n.1670T>A)
c.963T>A (p.Pro321=)
c.174T>A (p.Pro58=)
c.2001T>A (p.Pro667=)
c.1428T>A (p.Pro476=)
c.1353T>A (p.Pro451=)
c.30T>A (p.Pro10=)
3g.38904082G>ACA352164883SCN11Ac.1625C>T (p.Pro542Leu)
c.1445C>T (p.Pro482Leu)
c.1669C>T (n.1669C>T)
c.962C>T (p.Pro321Leu)
c.173C>T (p.Pro58Leu)
c.2000C>T (p.Pro667Leu)
c.1427C>T (p.Pro476Leu)
c.1352C>T (p.Pro451Leu)
c.29C>T (p.Pro10Leu)
 ClinVar dbSNP
3g.38904082G>CCA352164882SCN11Ac.1625C>G (p.Pro542Arg)
c.1445C>G (p.Pro482Arg)
c.1669C>G (n.1669C>G)
c.962C>G (p.Pro321Arg)
c.173C>G (p.Pro58Arg)
c.2000C>G (p.Pro667Arg)
c.1427C>G (p.Pro476Arg)
c.1352C>G (p.Pro451Arg)
c.29C>G (p.Pro10Arg)
3g.38904082G=CA1358721689SCN11Ac.1625C= (p.Pro542=)
c.1445C= (p.Pro482=)
c.1669C= (n.1669C=)
c.962C= (p.Pro321=)
c.173C= (p.Pro58=)
c.2000C= (p.Pro667=)
c.1427C= (p.Pro476=)
c.1352C= (p.Pro451=)
c.29C= (p.Pro10=)
3g.38904082G>TCA352164881SCN11Ac.1625C>A (p.Pro542His)
c.1445C>A (p.Pro482His)
c.1669C>A (n.1669C>A)
c.962C>A (p.Pro321His)
c.173C>A (p.Pro58His)
c.2000C>A (p.Pro667His)
c.1427C>A (p.Pro476His)
c.1352C>A (p.Pro451His)
c.29C>A (p.Pro10His)
3g.38904083G>ACA352164884SCN11Ac.1624C>T (p.Pro542Ser)
c.1444C>T (p.Pro482Ser)
c.1668C>T (n.1668C>T)
c.961C>T (p.Pro321Ser)
c.172C>T (p.Pro58Ser)
c.1999C>T (p.Pro667Ser)
c.1426C>T (p.Pro476Ser)
c.1351C>T (p.Pro451Ser)
c.28C>T (p.Pro10Ser)
 gnomAD v4
3g.38904083G>CCA352164885SCN11Ac.1624C>G (p.Pro542Ala)
c.1444C>G (p.Pro482Ala)
c.1668C>G (n.1668C>G)
c.961C>G (p.Pro321Ala)
c.172C>G (p.Pro58Ala)
c.1999C>G (p.Pro667Ala)
c.1426C>G (p.Pro476Ala)
c.1351C>G (p.Pro451Ala)
c.28C>G (p.Pro10Ala)
3g.38904083G=CA1358721692SCN11Ac.1624C= (p.Pro542=)
c.1444C= (p.Pro482=)
c.1668C= (n.1668C=)
c.961C= (p.Pro321=)
c.172C= (p.Pro58=)
c.1999C= (p.Pro667=)
c.1426C= (p.Pro476=)
c.1351C= (p.Pro451=)
c.28C= (p.Pro10=)
3g.38904083G>TCA2322250SCN11Ac.1624C>A (p.Pro542Thr)
c.1444C>A (p.Pro482Thr)
c.1668C>A (n.1668C>A)
c.961C>A (p.Pro321Thr)
c.172C>A (p.Pro58Thr)
c.1999C>A (p.Pro667Thr)
c.1426C>A (p.Pro476Thr)
c.1351C>A (p.Pro451Thr)
c.28C>A (p.Pro10Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38904084C>ACA352164886SCN11Ac.1623G>T (p.Glu541Asp)
c.1443G>T (p.Glu481Asp)
c.1667G>T (n.1667G>T)
c.960G>T (p.Glu320Asp)
c.171G>T (p.Glu57Asp)
c.1998G>T (p.Glu666Asp)
c.1425G>T (p.Glu475Asp)
c.1350G>T (p.Glu450Asp)
c.27G>T (p.Glu9Asp)
 gnomAD v4
3g.38904084C>GCA352164887SCN11Ac.1623G>C (p.Glu541Asp)
c.1443G>C (p.Glu481Asp)
c.1667G>C (n.1667G>C)
c.960G>C (p.Glu320Asp)
c.171G>C (p.Glu57Asp)
c.1998G>C (p.Glu666Asp)
c.1425G>C (p.Glu475Asp)
c.1350G>C (p.Glu450Asp)
c.27G>C (p.Glu9Asp)
3g.38904084C>TCA433336389SCN11Ac.1623G>A (p.Glu541=)
c.1443G>A (p.Glu481=)
c.1667G>A (n.1667G>A)
c.960G>A (p.Glu320=)
c.171G>A (p.Glu57=)
c.1998G>A (p.Glu666=)
c.1425G>A (p.Glu475=)
c.1350G>A (p.Glu450=)
c.27G>A (p.Glu9=)
 gnomAD v4
3g.38904086_38904087delCA2665127909SCN11Ac.1622_1623del (p.Glu541AlafsTer26)
c.1442_1443del (p.Glu481AlafsTer26)
c.1666_1667del (n.1666_1667del)
c.959_960del (p.Glu320AlafsTer26)
c.170_171del (p.Glu57AlafsTer26)
c.1997_1998del (p.Glu666AlafsTer26)
c.1424_1425del (p.Glu475AlafsTer26)
c.1349_1350del (p.Glu450AlafsTer26)
c.26_27del (p.Glu9AlafsTer26)
 gnomAD v4
3g.38904085T>ACA352164888SCN11Ac.1622A>T (p.Glu541Val)
c.1442A>T (p.Glu481Val)
c.1666A>T (n.1666A>T)
c.959A>T (p.Glu320Val)
c.170A>T (p.Glu57Val)
c.1997A>T (p.Glu666Val)
c.1424A>T (p.Glu475Val)
c.1349A>T (p.Glu450Val)
c.26A>T (p.Glu9Val)
3g.38904085T>CCA352164889SCN11Ac.1622A>G (p.Glu541Gly)
c.1442A>G (p.Glu481Gly)
c.1666A>G (n.1666A>G)
c.959A>G (p.Glu320Gly)
c.170A>G (p.Glu57Gly)
c.1997A>G (p.Glu666Gly)
c.1424A>G (p.Glu475Gly)
c.1349A>G (p.Glu450Gly)
c.26A>G (p.Glu9Gly)
3g.38904085T>GCA352164890SCN11Ac.1622A>C (p.Glu541Ala)
c.1442A>C (p.Glu481Ala)
c.1666A>C (n.1666A>C)
c.959A>C (p.Glu320Ala)
c.170A>C (p.Glu57Ala)
c.1997A>C (p.Glu666Ala)
c.1424A>C (p.Glu475Ala)
c.1349A>C (p.Glu450Ala)
c.26A>C (p.Glu9Ala)
3g.38904086C>ACA352164891SCN11Ac.1621G>T (p.Glu541Ter)
c.1441G>T (p.Glu481Ter)
c.1665G>T (n.1665G>T)
c.958G>T (p.Glu320Ter)
c.169G>T (p.Glu57Ter)
c.1996G>T (p.Glu666Ter)
c.1423G>T (p.Glu475Ter)
c.1348G>T (p.Glu450Ter)
c.25G>T (p.Glu9Ter)
 dbSNP
3g.38904086C=CA1358721703SCN11Ac.1621G= (p.Glu541=)
c.1441G= (p.Glu481=)
c.1665G= (n.1665G=)
c.958G= (p.Glu320=)
c.169G= (p.Glu57=)
c.1996G= (p.Glu666=)
c.1423G= (p.Glu475=)
c.1348G= (p.Glu450=)
c.25G= (p.Glu9=)
3g.38904086C>GCA352164892SCN11Ac.1621G>C (p.Glu541Gln)
c.1441G>C (p.Glu481Gln)
c.1665G>C (n.1665G>C)
c.958G>C (p.Glu320Gln)
c.169G>C (p.Glu57Gln)
c.1996G>C (p.Glu666Gln)
c.1423G>C (p.Glu475Gln)
c.1348G>C (p.Glu450Gln)
c.25G>C (p.Glu9Gln)
 gnomAD v4
3g.38904086C>TCA352164893SCN11Ac.1621G>A (p.Glu541Lys)
c.1441G>A (p.Glu481Lys)
c.1665G>A (n.1665G>A)
c.958G>A (p.Glu320Lys)
c.169G>A (p.Glu57Lys)
c.1996G>A (p.Glu666Lys)
c.1423G>A (p.Glu475Lys)
c.1348G>A (p.Glu450Lys)
c.25G>A (p.Glu9Lys)
 ClinVar dbSNP gnomAD v4
3g.38904087T>ACA352164894SCN11Ac.1620A>T (p.Gln540His)
c.1440A>T (p.Gln480His)
c.1664A>T (n.1664A>T)
c.957A>T (p.Gln319His)
c.168A>T (p.Gln56His)
c.1995A>T (p.Gln665His)
c.1422A>T (p.Gln474His)
c.1347A>T (p.Gln449His)
c.24A>T (p.Gln8His)
3g.38904087T>CCA433336390SCN11Ac.1620A>G (p.Gln540=)
c.1440A>G (p.Gln480=)
c.1664A>G (n.1664A>G)
c.957A>G (p.Gln319=)
c.168A>G (p.Gln56=)
c.1995A>G (p.Gln665=)
c.1422A>G (p.Gln474=)
c.1347A>G (p.Gln449=)
c.24A>G (p.Gln8=)
3g.38904087T>GCA352164895SCN11Ac.1620A>C (p.Gln540His)
c.1440A>C (p.Gln480His)
c.1664A>C (n.1664A>C)
c.957A>C (p.Gln319His)
c.168A>C (p.Gln56His)
c.1995A>C (p.Gln665His)
c.1422A>C (p.Gln474His)
c.1347A>C (p.Gln449His)
c.24A>C (p.Gln8His)
3g.38904088T>ACA352164896SCN11Ac.1619A>T (p.Gln540Leu)
c.1439A>T (p.Gln480Leu)
c.1663A>T (n.1663A>T)
c.956A>T (p.Gln319Leu)
c.167A>T (p.Gln56Leu)
c.1994A>T (p.Gln665Leu)
c.1421A>T (p.Gln474Leu)
c.1346A>T (p.Gln449Leu)
c.23A>T (p.Gln8Leu)
3g.38904088T>CCA352164897SCN11Ac.1619A>G (p.Gln540Arg)
c.1439A>G (p.Gln480Arg)
c.1663A>G (n.1663A>G)
c.956A>G (p.Gln319Arg)
c.167A>G (p.Gln56Arg)
c.1994A>G (p.Gln665Arg)
c.1421A>G (p.Gln474Arg)
c.1346A>G (p.Gln449Arg)
c.23A>G (p.Gln8Arg)
 dbSNP
3g.38904088T>GCA352164898SCN11Ac.1619A>C (p.Gln540Pro)
c.1439A>C (p.Gln480Pro)
c.1663A>C (n.1663A>C)
c.956A>C (p.Gln319Pro)
c.167A>C (p.Gln56Pro)
c.1994A>C (p.Gln665Pro)
c.1421A>C (p.Gln474Pro)
c.1346A>C (p.Gln449Pro)
c.23A>C (p.Gln8Pro)
 gnomAD v4
3g.38904088T=CA1358721705SCN11Ac.1619A= (p.Gln540=)
c.1439A= (p.Gln480=)
c.1663A= (n.1663A=)
c.956A= (p.Gln319=)
c.167A= (p.Gln56=)
c.1994A= (p.Gln665=)
c.1421A= (p.Gln474=)
c.1346A= (p.Gln449=)
c.23A= (p.Gln8=)
3g.38904089G>ACA352164901SCN11Ac.1618C>T (p.Gln540Ter)
c.1438C>T (p.Gln480Ter)
c.1662C>T (n.1662C>T)
c.955C>T (p.Gln319Ter)
c.166C>T (p.Gln56Ter)
c.1993C>T (p.Gln665Ter)
c.1420C>T (p.Gln474Ter)
c.1345C>T (p.Gln449Ter)
c.22C>T (p.Gln8Ter)
 dbSNP
3g.38904089G>CCA352164899SCN11Ac.1618C>G (p.Gln540Glu)
c.1438C>G (p.Gln480Glu)
c.1662C>G (n.1662C>G)
c.955C>G (p.Gln319Glu)
c.166C>G (p.Gln56Glu)
c.1993C>G (p.Gln665Glu)
c.1420C>G (p.Gln474Glu)
c.1345C>G (p.Gln449Glu)
c.22C>G (p.Gln8Glu)
3g.38904089G=CA1358721707SCN11Ac.1618C= (p.Gln540=)
c.1438C= (p.Gln480=)
c.1662C= (n.1662C=)
c.955C= (p.Gln319=)
c.166C= (p.Gln56=)
c.1993C= (p.Gln665=)
c.1420C= (p.Gln474=)
c.1345C= (p.Gln449=)
c.22C= (p.Gln8=)
3g.38904089G>TCA352164900SCN11Ac.1618C>A (p.Gln540Lys)
c.1438C>A (p.Gln480Lys)
c.1662C>A (n.1662C>A)
c.955C>A (p.Gln319Lys)
c.166C>A (p.Gln56Lys)
c.1993C>A (p.Gln665Lys)
c.1420C>A (p.Gln474Lys)
c.1345C>A (p.Gln449Lys)
c.22C>A (p.Gln8Lys)
3g.38904090T>ACA433336391SCN11Ac.1617A>T (p.Ser539=)
c.1437A>T (p.Ser479=)
c.1661A>T (n.1661A>T)
c.954A>T (p.Ser318=)
c.165A>T (p.Ser55=)
c.1992A>T (p.Ser664=)
c.1419A>T (p.Ser473=)
c.1344A>T (p.Ser448=)
c.21A>T (p.Ser7=)
3g.38904090T>CCA433336392SCN11Ac.1617A>G (p.Ser539=)
c.1437A>G (p.Ser479=)
c.1661A>G (n.1661A>G)
c.954A>G (p.Ser318=)
c.165A>G (p.Ser55=)
c.1992A>G (p.Ser664=)
c.1419A>G (p.Ser473=)
c.1344A>G (p.Ser448=)
c.21A>G (p.Ser7=)
 gnomAD v4
3g.38904090T>GCA433336393SCN11Ac.1617A>C (p.Ser539=)
c.1437A>C (p.Ser479=)
c.1661A>C (n.1661A>C)
c.954A>C (p.Ser318=)
c.165A>C (p.Ser55=)
c.1992A>C (p.Ser664=)
c.1419A>C (p.Ser473=)
c.1344A>C (p.Ser448=)
c.21A>C (p.Ser7=)
3g.38904091G>ACA352164902SCN11Ac.1616C>T (p.Ser539Leu)
c.1436C>T (p.Ser479Leu)
c.1660C>T (n.1660C>T)
c.953C>T (p.Ser318Leu)
c.164C>T (p.Ser55Leu)
c.1991C>T (p.Ser664Leu)
c.1418C>T (p.Ser473Leu)
c.1343C>T (p.Ser448Leu)
c.20C>T (p.Ser7Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38904091G>CCA352164903SCN11Ac.1616C>G (p.Ser539Ter)
c.1436C>G (p.Ser479Ter)
c.1660C>G (n.1660C>G)
c.953C>G (p.Ser318Ter)
c.164C>G (p.Ser55Ter)
c.1991C>G (p.Ser664Ter)
c.1418C>G (p.Ser473Ter)
c.1343C>G (p.Ser448Ter)
c.20C>G (p.Ser7Ter)
 dbSNP
3g.38904091G=CA1358721712SCN11Ac.1616C= (p.Ser539=)
c.1436C= (p.Ser479=)
c.1660C= (n.1660C=)
c.953C= (p.Ser318=)
c.164C= (p.Ser55=)
c.1991C= (p.Ser664=)
c.1418C= (p.Ser473=)
c.1343C= (p.Ser448=)
c.20C= (p.Ser7=)
3g.38904091G>TCA352164904SCN11Ac.1616C>A (p.Ser539Ter)
c.1436C>A (p.Ser479Ter)
c.1660C>A (n.1660C>A)
c.953C>A (p.Ser318Ter)
c.164C>A (p.Ser55Ter)
c.1991C>A (p.Ser664Ter)
c.1418C>A (p.Ser473Ter)
c.1343C>A (p.Ser448Ter)
c.20C>A (p.Ser7Ter)
 gnomAD v4
3g.38904092A>CCA352164905SCN11Ac.1615T>G (p.Ser539Ala)
c.1435T>G (p.Ser479Ala)
c.1659T>G (n.1659T>G)
c.952T>G (p.Ser318Ala)
c.163T>G (p.Ser55Ala)
c.1990T>G (p.Ser664Ala)
c.1417T>G (p.Ser473Ala)
c.1342T>G (p.Ser448Ala)
c.19T>G (p.Ser7Ala)
3g.38904092A>GCA352164906SCN11Ac.1615T>C (p.Ser539Pro)
c.1435T>C (p.Ser479Pro)
c.1659T>C (n.1659T>C)
c.952T>C (p.Ser318Pro)
c.163T>C (p.Ser55Pro)
c.1990T>C (p.Ser664Pro)
c.1417T>C (p.Ser473Pro)
c.1342T>C (p.Ser448Pro)
c.19T>C (p.Ser7Pro)
3g.38904092A>TCA352164907SCN11Ac.1615T>A (p.Ser539Thr)
c.1435T>A (p.Ser479Thr)
c.1659T>A (n.1659T>A)
c.952T>A (p.Ser318Thr)
c.163T>A (p.Ser55Thr)
c.1990T>A (p.Ser664Thr)
c.1417T>A (p.Ser473Thr)
c.1342T>A (p.Ser448Thr)
c.19T>A (p.Ser7Thr)
3g.38904093T>ACA352164908SCN11Ac.1614A>T (p.Lys538Asn)
c.1434A>T (p.Lys478Asn)
c.1658A>T (n.1658A>T)
c.951A>T (p.Lys317Asn)
c.162A>T (p.Lys54Asn)
c.1989A>T (p.Lys663Asn)
c.1416A>T (p.Lys472Asn)
c.1341A>T (p.Lys447Asn)
c.18A>T (p.Lys6Asn)
3g.38904093T>CCA433336395SCN11Ac.1614A>G (p.Lys538=)
c.1434A>G (p.Lys478=)
c.1658A>G (n.1658A>G)
c.951A>G (p.Lys317=)
c.162A>G (p.Lys54=)
c.1989A>G (p.Lys663=)
c.1416A>G (p.Lys472=)
c.1341A>G (p.Lys447=)
c.18A>G (p.Lys6=)
3g.38904093T>GCA352164909SCN11Ac.1614A>C (p.Lys538Asn)
c.1434A>C (p.Lys478Asn)
c.1658A>C (n.1658A>C)
c.951A>C (p.Lys317Asn)
c.162A>C (p.Lys54Asn)
c.1989A>C (p.Lys663Asn)
c.1416A>C (p.Lys472Asn)
c.1341A>C (p.Lys447Asn)
c.18A>C (p.Lys6Asn)
3g.38904097delCA2577554969SCN11Ac.1614del (p.Lys538AsnfsTer?)
c.1434del (p.Lys478AsnfsTer?)
c.1658del (n.1658del)
c.951del (p.Lys317AsnfsTer?)
c.162del (p.Lys54AsnfsTer?)
c.1989del (p.Lys663AsnfsTer?)
c.1416del (p.Lys472AsnfsTer?)
c.1341del (p.Lys447AsnfsTer?)
c.18del (p.Lys6AsnfsTer?)
3g.38904094T>ACA352164910SCN11Ac.1613A>T (p.Lys538Ile)
c.1433A>T (p.Lys478Ile)
c.1657A>T (n.1657A>T)
c.950A>T (p.Lys317Ile)
c.161A>T (p.Lys54Ile)
c.1988A>T (p.Lys663Ile)
c.1415A>T (p.Lys472Ile)
c.1340A>T (p.Lys447Ile)
c.17A>T (p.Lys6Ile)
3g.38904094T>CCA352164911SCN11Ac.1613A>G (p.Lys538Arg)
c.1433A>G (p.Lys478Arg)
c.1657A>G (n.1657A>G)
c.950A>G (p.Lys317Arg)
c.161A>G (p.Lys54Arg)
c.1988A>G (p.Lys663Arg)
c.1415A>G (p.Lys472Arg)
c.1340A>G (p.Lys447Arg)
c.17A>G (p.Lys6Arg)
3g.38904094T>GCA352164912SCN11Ac.1613A>C (p.Lys538Thr)
c.1433A>C (p.Lys478Thr)
c.1657A>C (n.1657A>C)
c.950A>C (p.Lys317Thr)
c.161A>C (p.Lys54Thr)
c.1988A>C (p.Lys663Thr)
c.1415A>C (p.Lys472Thr)
c.1340A>C (p.Lys447Thr)
c.17A>C (p.Lys6Thr)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
3g.38904094T=CA1358721716SCN11Ac.1613A= (p.Lys538=)
c.1433A= (p.Lys478=)
c.1657A= (n.1657A=)
c.950A= (p.Lys317=)
c.161A= (p.Lys54=)
c.1988A= (p.Lys663=)
c.1415A= (p.Lys472=)
c.1340A= (p.Lys447=)
c.17A= (p.Lys6=)
3g.38904095T>ACA352164914SCN11Ac.1612A>T (p.Lys538Ter)
c.1432A>T (p.Lys478Ter)
c.1656A>T (n.1656A>T)
c.949A>T (p.Lys317Ter)
c.160A>T (p.Lys54Ter)
c.1987A>T (p.Lys663Ter)
c.1414A>T (p.Lys472Ter)
c.1339A>T (p.Lys447Ter)
c.16A>T (p.Lys6Ter)
 dbSNP
3g.38904095T>CCA352164915SCN11Ac.1612A>G (p.Lys538Glu)
c.1432A>G (p.Lys478Glu)
c.1656A>G (n.1656A>G)
c.949A>G (p.Lys317Glu)
c.160A>G (p.Lys54Glu)
c.1987A>G (p.Lys663Glu)
c.1414A>G (p.Lys472Glu)
c.1339A>G (p.Lys447Glu)
c.16A>G (p.Lys6Glu)
 ClinVar dbSNP gnomAD v4
3g.38904095T>GCA352164913SCN11Ac.1612A>C (p.Lys538Gln)
c.1432A>C (p.Lys478Gln)
c.1656A>C (n.1656A>C)
c.949A>C (p.Lys317Gln)
c.160A>C (p.Lys54Gln)
c.1987A>C (p.Lys663Gln)
c.1414A>C (p.Lys472Gln)
c.1339A>C (p.Lys447Gln)
c.16A>C (p.Lys6Gln)
3g.38904095T=CA1358721719SCN11Ac.1612A= (p.Lys538=)
c.1432A= (p.Lys478=)
c.1656A= (n.1656A=)
c.949A= (p.Lys317=)
c.160A= (p.Lys54=)
c.1987A= (p.Lys663=)
c.1414A= (p.Lys472=)
c.1339A= (p.Lys447=)
c.16A= (p.Lys6=)
3g.38904096T>ACA352164916SCN11Ac.1611A>T (p.Glu537Asp)
c.1431A>T (p.Glu477Asp)
c.1655A>T (n.1655A>T)
c.948A>T (p.Glu316Asp)
c.159A>T (p.Glu53Asp)
c.1986A>T (p.Glu662Asp)
c.1413A>T (p.Glu471Asp)
c.1338A>T (p.Glu446Asp)
c.15A>T (p.Glu5Asp)
3g.38904096T>CCA433336399SCN11Ac.1611A>G (p.Glu537=)
c.1431A>G (p.Glu477=)
c.1655A>G (n.1655A>G)
c.948A>G (p.Glu316=)
c.159A>G (p.Glu53=)
c.1986A>G (p.Glu662=)
c.1413A>G (p.Glu471=)
c.1338A>G (p.Glu446=)
c.15A>G (p.Glu5=)
3g.38904096T>GCA352164917SCN11Ac.1611A>C (p.Glu537Asp)
c.1431A>C (p.Glu477Asp)
c.1655A>C (n.1655A>C)
c.948A>C (p.Glu316Asp)
c.159A>C (p.Glu53Asp)
c.1986A>C (p.Glu662Asp)
c.1413A>C (p.Glu471Asp)
c.1338A>C (p.Glu446Asp)
c.15A>C (p.Glu5Asp)
3g.38904097T>ACA352164918SCN11Ac.1610A>T (p.Glu537Val)
c.1430A>T (p.Glu477Val)
c.1654A>T (n.1654A>T)
c.947A>T (p.Glu316Val)
c.158A>T (p.Glu53Val)
c.1985A>T (p.Glu662Val)
c.1412A>T (p.Glu471Val)
c.1337A>T (p.Glu446Val)
c.14A>T (p.Glu5Val)
3g.38904097T>CCA352164919SCN11Ac.1610A>G (p.Glu537Gly)
c.1430A>G (p.Glu477Gly)
c.1654A>G (n.1654A>G)
c.947A>G (p.Glu316Gly)
c.158A>G (p.Glu53Gly)
c.1985A>G (p.Glu662Gly)
c.1412A>G (p.Glu471Gly)
c.1337A>G (p.Glu446Gly)
c.14A>G (p.Glu5Gly)
3g.38904097T>GCA352164920SCN11Ac.1610A>C (p.Glu537Ala)
c.1430A>C (p.Glu477Ala)
c.1654A>C (n.1654A>C)
c.947A>C (p.Glu316Ala)
c.158A>C (p.Glu53Ala)
c.1985A>C (p.Glu662Ala)
c.1412A>C (p.Glu471Ala)
c.1337A>C (p.Glu446Ala)
c.14A>C (p.Glu5Ala)
3g.38904098C>ACA352164921SCN11Ac.1609G>T (p.Glu537Ter)
c.1429G>T (p.Glu477Ter)
c.1653G>T (n.1653G>T)
c.946G>T (p.Glu316Ter)
c.157G>T (p.Glu53Ter)
c.1984G>T (p.Glu662Ter)
c.1411G>T (p.Glu471Ter)
c.1336G>T (p.Glu446Ter)
c.13G>T (p.Glu5Ter)
 dbSNP
3g.38904098C=CA1358721722SCN11Ac.1609G= (p.Glu537=)
c.1429G= (p.Glu477=)
c.1653G= (n.1653G=)
c.946G= (p.Glu316=)
c.157G= (p.Glu53=)
c.1984G= (p.Glu662=)
c.1411G= (p.Glu471=)
c.1336G= (p.Glu446=)
c.13G= (p.Glu5=)
3g.38904098C>GCA352164922SCN11Ac.1609G>C (p.Glu537Gln)
c.1429G>C (p.Glu477Gln)
c.1653G>C (n.1653G>C)
c.946G>C (p.Glu316Gln)
c.157G>C (p.Glu53Gln)
c.1984G>C (p.Glu662Gln)
c.1411G>C (p.Glu471Gln)
c.1336G>C (p.Glu446Gln)
c.13G>C (p.Glu5Gln)
 gnomAD v4
3g.38904098C>TCA72961772SCN11Ac.1609G>A (p.Glu537Lys)
c.1429G>A (p.Glu477Lys)
c.1653G>A (n.1653G>A)
c.946G>A (p.Glu316Lys)
c.157G>A (p.Glu53Lys)
c.1984G>A (p.Glu662Lys)
c.1411G>A (p.Glu471Lys)
c.1336G>A (p.Glu446Lys)
c.13G>A (p.Glu5Lys)
 dbSNP COSMIC
3g.38904099T>ACA352164923SCN11Ac.1608A>T (p.Gln536His)
c.1428A>T (p.Gln476His)
c.1652A>T (n.1652A>T)
c.945A>T (p.Gln315His)
c.156A>T (p.Gln52His)
c.1983A>T (p.Gln661His)
c.1410A>T (p.Gln470His)
c.1335A>T (p.Gln445His)
c.12A>T (p.Gln4His)
3g.38904099T>CCA433336402SCN11Ac.1608A>G (p.Gln536=)
c.1428A>G (p.Gln476=)
c.1652A>G (n.1652A>G)
c.945A>G (p.Gln315=)
c.156A>G (p.Gln52=)
c.1983A>G (p.Gln661=)
c.1410A>G (p.Gln470=)
c.1335A>G (p.Gln445=)
c.12A>G (p.Gln4=)
3g.38904099T>GCA352164924SCN11Ac.1608A>C (p.Gln536His)
c.1428A>C (p.Gln476His)
c.1652A>C (n.1652A>C)
c.945A>C (p.Gln315His)
c.156A>C (p.Gln52His)
c.1983A>C (p.Gln661His)
c.1410A>C (p.Gln470His)
c.1335A>C (p.Gln445His)
c.12A>C (p.Gln4His)

Number of alleles fetched