Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.107634464_107634469dupCA3946545SOBPc.1620_1625dup (p.Pro542_Ile543insIlePro)
c.1773_1778dup (p.Pro593_Ile594insIlePro)
c.1677_1682dup (p.Pro561_Ile562insIlePro)
c.1659_1664dup (p.Pro555_Ile556insIlePro)
c.1032_1037dup (p.Pro346_Ile347insIlePro)
c.843_848dup (p.Pro283_Ile284insIlePro)
c.1173_1178dup (p.Pro393_Ile394insIlePro)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107634464_107634469delCA3946544SOBPc.1620_1625del (p.Ile541_Pro542del)
c.1773_1778del (p.Ile592_Pro593del)
c.1677_1682del (p.Ile560_Pro561del)
c.1659_1664del (p.Ile554_Pro555del)
c.1032_1037del (p.Ile345_Pro346del)
c.843_848del (p.Ile282_Pro283del)
c.1173_1178del (p.Ile392_Pro393del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107634458_107634469delCA1653938635SOBPc.1614_1625del (p.Ile539_Pro542del)
c.1767_1778del (p.Ile590_Pro593del)
c.1671_1682del (p.Ile558_Pro561del)
c.1653_1664del (p.Ile552_Pro555del)
c.1026_1037del (p.Ile343_Pro346del)
c.837_848del (p.Ile280_Pro283del)
c.1167_1178del (p.Ile390_Pro393del)
dbSNP gnomAD v4
6g.107634464_107634475dupCA2679876742SOBPc.1620_1631dup (p.Pro544_His545insIleProIlePro)
c.1773_1784dup (p.Pro595_His596insIleProIlePro)
c.1677_1688dup (p.Pro563_His564insIleProIlePro)
c.1659_1670dup (p.Pro557_His558insIleProIlePro)
c.1032_1043dup (p.Pro348_His349insIleProIlePro)
c.843_854dup (p.Pro285_His286insIleProIlePro)
c.1173_1184dup (p.Pro395_His396insIleProIlePro)
gnomAD v4
6g.107634464_107634475delCA569564365SOBPc.1620_1631del (p.Ile541_Pro544del)
c.1773_1784del (p.Ile592_Pro595del)
c.1677_1688del (p.Ile560_Pro563del)
c.1659_1670del (p.Ile554_Pro557del)
c.1032_1043del (p.Ile345_Pro348del)
c.843_854del (p.Ile282_Pro285del)
c.1173_1184del (p.Ile392_Pro395del)
gnomAD v2 gnomAD v4
6g.107634464delCA2679876743SOBPc.1620del (p.Ile541SerfsTer?)
c.1773del (p.Ile592SerfsTer?)
c.1677del (p.Ile560SerfsTer?)
c.1659del (p.Ile554SerfsTer?)
c.1032del (p.Ile345SerfsTer?)
c.843del (p.Ile282SerfsTer?)
c.1173del (p.Ile392SerfsTer?)
gnomAD v4
6g.107634462C>ACA365170389SOBPc.1618C>A (p.Pro540Thr)
c.1771C>A (p.Pro591Thr)
c.1675C>A (p.Pro559Thr)
c.1657C>A (p.Pro553Thr)
c.1030C>A (p.Pro344Thr)
c.841C>A (p.Pro281Thr)
c.1171C>A (p.Pro391Thr)
dbSNP gnomAD v2 gnomAD v4
6g.107634462C=CA1653938671SOBPc.1618C= (p.Pro540=)
c.1771C= (p.Pro591=)
c.1675C= (p.Pro559=)
c.1657C= (p.Pro553=)
c.1030C= (p.Pro344=)
c.841C= (p.Pro281=)
c.1171C= (p.Pro391=)
6g.107634462C>GCA365170391SOBPc.1618C>G (p.Pro540Ala)
c.1771C>G (p.Pro591Ala)
c.1675C>G (p.Pro559Ala)
c.1657C>G (p.Pro553Ala)
c.1030C>G (p.Pro344Ala)
c.841C>G (p.Pro281Ala)
c.1171C>G (p.Pro391Ala)
6g.107634462C>TCA365170393SOBPc.1618C>T (p.Pro540Ser)
c.1771C>T (p.Pro591Ser)
c.1675C>T (p.Pro559Ser)
c.1657C>T (p.Pro553Ser)
c.1030C>T (p.Pro344Ser)
c.841C>T (p.Pro281Ser)
c.1171C>T (p.Pro391Ser)
6g.107634463C>ACA365170396SOBPc.1619C>A (p.Pro540His)
c.1772C>A (p.Pro591His)
c.1676C>A (p.Pro559His)
c.1658C>A (p.Pro553His)
c.1031C>A (p.Pro344His)
c.842C>A (p.Pro281His)
c.1172C>A (p.Pro391His)
6g.107634463C=CA1653938673SOBPc.1619C= (p.Pro540=)
c.1772C= (p.Pro591=)
c.1676C= (p.Pro559=)
c.1658C= (p.Pro553=)
c.1031C= (p.Pro344=)
c.842C= (p.Pro281=)
c.1172C= (p.Pro391=)
6g.107634463C>GCA365170400SOBPc.1619C>G (p.Pro540Arg)
c.1772C>G (p.Pro591Arg)
c.1676C>G (p.Pro559Arg)
c.1658C>G (p.Pro553Arg)
c.1031C>G (p.Pro344Arg)
c.842C>G (p.Pro281Arg)
c.1172C>G (p.Pro391Arg)
gnomAD v4
6g.107634463C>TCA3946550SOBPc.1619C>T (p.Pro540Leu)
c.1772C>T (p.Pro591Leu)
c.1676C>T (p.Pro559Leu)
c.1658C>T (p.Pro553Leu)
c.1031C>T (p.Pro344Leu)
c.842C>T (p.Pro281Leu)
c.1172C>T (p.Pro391Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107634464C>ACA145013420SOBPc.1620C>A (p.Pro540=)
c.1773C>A (p.Pro591=)
c.1677C>A (p.Pro559=)
c.1659C>A (p.Pro553=)
c.1032C>A (p.Pro344=)
c.843C>A (p.Pro281=)
c.1173C>A (p.Pro391=)
dbSNP gnomAD v4
6g.107634464C=CA1653938675SOBPc.1620C= (p.Pro540=)
c.1773C= (p.Pro591=)
c.1677C= (p.Pro559=)
c.1659C= (p.Pro553=)
c.1032C= (p.Pro344=)
c.843C= (p.Pro281=)
c.1173C= (p.Pro391=)
6g.107634464C>GCA451581639SOBPc.1620C>G (p.Pro540=)
c.1773C>G (p.Pro591=)
c.1677C>G (p.Pro559=)
c.1659C>G (p.Pro553=)
c.1032C>G (p.Pro344=)
c.843C>G (p.Pro281=)
c.1173C>G (p.Pro391=)
6g.107634464C>TCA451581640SOBPc.1620C>T (p.Pro540=)
c.1773C>T (p.Pro591=)
c.1677C>T (p.Pro559=)
c.1659C>T (p.Pro553=)
c.1032C>T (p.Pro344=)
c.843C>T (p.Pro281=)
c.1173C>T (p.Pro391=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634464_107634470delinsCATCCCTCA1653938677SOBPc.1620_1626delinsCATCCCT (p.Pro540=)
c.1773_1779delinsCATCCCT (p.Pro591=)
c.1677_1683delinsCATCCCT (p.Pro559=)
c.1659_1665delinsCATCCCT (p.Pro553=)
c.1032_1038delinsCATCCCT (p.Pro344=)
c.843_849delinsCATCCCT (p.Pro281=)
c.1173_1179delinsCATCCCT (p.Pro391=)
6g.107634465A>CCA365170404SOBPc.1621A>C (p.Ile541Leu)
c.1774A>C (p.Ile592Leu)
c.1678A>C (p.Ile560Leu)
c.1660A>C (p.Ile554Leu)
c.1033A>C (p.Ile345Leu)
c.844A>C (p.Ile282Leu)
c.1174A>C (p.Ile392Leu)
6g.107634465A>GCA365170407SOBPc.1621A>G (p.Ile541Val)
c.1774A>G (p.Ile592Val)
c.1678A>G (p.Ile560Val)
c.1660A>G (p.Ile554Val)
c.1033A>G (p.Ile345Val)
c.844A>G (p.Ile282Val)
c.1174A>G (p.Ile392Val)
6g.107634465A>TCA365170412SOBPc.1621A>T (p.Ile541Phe)
c.1774A>T (p.Ile592Phe)
c.1678A>T (p.Ile560Phe)
c.1660A>T (p.Ile554Phe)
c.1033A>T (p.Ile345Phe)
c.844A>T (p.Ile282Phe)
c.1174A>T (p.Ile392Phe)
6g.107634471_107634476dupCA2739289923SOBPc.1627_1632dup (p.Pro544_His545insIlePro)
c.1780_1785dup (p.Pro595_His596insIlePro)
c.1684_1689dup (p.Pro563_His564insIlePro)
c.1666_1671dup (p.Pro557_His558insIlePro)
c.1039_1044dup (p.Pro348_His349insIlePro)
c.850_855dup (p.Pro285_His286insIlePro)
c.1180_1185dup (p.Pro395_His396insIlePro)
6g.107634471_107634476delCA1092914424SOBPc.1627_1632del (p.Ile543_Pro544del)
c.1780_1785del (p.Ile594_Pro595del)
c.1684_1689del (p.Ile562_Pro563del)
c.1666_1671del (p.Ile556_Pro557del)
c.1039_1044del (p.Ile347_Pro348del)
c.850_855del (p.Ile284_Pro285del)
c.1180_1185del (p.Ile394_Pro395del)
dbSNP gnomAD v3 gnomAD v4
6g.107634466T>ACA365170418SOBPc.1622T>A (p.Ile541Asn)
c.1775T>A (p.Ile592Asn)
c.1679T>A (p.Ile560Asn)
c.1661T>A (p.Ile554Asn)
c.1034T>A (p.Ile345Asn)
c.845T>A (p.Ile282Asn)
c.1175T>A (p.Ile392Asn)
6g.107634466T>CCA365170421SOBPc.1622T>C (p.Ile541Thr)
c.1775T>C (p.Ile592Thr)
c.1679T>C (p.Ile560Thr)
c.1661T>C (p.Ile554Thr)
c.1034T>C (p.Ile345Thr)
c.845T>C (p.Ile282Thr)
c.1175T>C (p.Ile392Thr)
6g.107634466T>GCA365170424SOBPc.1622T>G (p.Ile541Ser)
c.1775T>G (p.Ile592Ser)
c.1679T>G (p.Ile560Ser)
c.1661T>G (p.Ile554Ser)
c.1034T>G (p.Ile345Ser)
c.845T>G (p.Ile282Ser)
c.1175T>G (p.Ile392Ser)
gnomAD v4
6g.107634467C>ACA3946551SOBPc.1623C>A (p.Ile541=)
c.1776C>A (p.Ile592=)
c.1680C>A (p.Ile560=)
c.1662C>A (p.Ile554=)
c.1035C>A (p.Ile345=)
c.846C>A (p.Ile282=)
c.1176C>A (p.Ile392=)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.107634467C=CA1653938683SOBPc.1623C= (p.Ile541=)
c.1776C= (p.Ile592=)
c.1680C= (p.Ile560=)
c.1662C= (p.Ile554=)
c.1035C= (p.Ile345=)
c.846C= (p.Ile282=)
c.1176C= (p.Ile392=)
6g.107634467C>GCA365170431SOBPc.1623C>G (p.Ile541Met)
c.1776C>G (p.Ile592Met)
c.1680C>G (p.Ile560Met)
c.1662C>G (p.Ile554Met)
c.1035C>G (p.Ile345Met)
c.846C>G (p.Ile282Met)
c.1176C>G (p.Ile392Met)
6g.107634467C>TCA451581644SOBPc.1623C>T (p.Ile541=)
c.1776C>T (p.Ile592=)
c.1680C>T (p.Ile560=)
c.1662C>T (p.Ile554=)
c.1035C>T (p.Ile345=)
c.846C>T (p.Ile282=)
c.1176C>T (p.Ile392=)
gnomAD v4 COSMIC
6g.107634468C>ACA365170436SOBPc.1624C>A (p.Pro542Thr)
c.1777C>A (p.Pro593Thr)
c.1681C>A (p.Pro561Thr)
c.1663C>A (p.Pro555Thr)
c.1036C>A (p.Pro346Thr)
c.847C>A (p.Pro283Thr)
c.1177C>A (p.Pro393Thr)
6g.107634468C=CA1653938686SOBPc.1624C= (p.Pro542=)
c.1777C= (p.Pro593=)
c.1681C= (p.Pro561=)
c.1663C= (p.Pro555=)
c.1036C= (p.Pro346=)
c.847C= (p.Pro283=)
c.1177C= (p.Pro393=)
6g.107634468C>GCA365170438SOBPc.1624C>G (p.Pro542Ala)
c.1777C>G (p.Pro593Ala)
c.1681C>G (p.Pro561Ala)
c.1663C>G (p.Pro555Ala)
c.1036C>G (p.Pro346Ala)
c.847C>G (p.Pro283Ala)
c.1177C>G (p.Pro393Ala)
6g.107634468C>TCA365170442SOBPc.1624C>T (p.Pro542Ser)
c.1777C>T (p.Pro593Ser)
c.1681C>T (p.Pro561Ser)
c.1663C>T (p.Pro555Ser)
c.1036C>T (p.Pro346Ser)
c.847C>T (p.Pro283Ser)
c.1177C>T (p.Pro393Ser)
dbSNP gnomAD v4 COSMIC
6g.107634469C>ACA365170445SOBPc.1625C>A (p.Pro542His)
c.1778C>A (p.Pro593His)
c.1682C>A (p.Pro561His)
c.1664C>A (p.Pro555His)
c.1037C>A (p.Pro346His)
c.848C>A (p.Pro283His)
c.1178C>A (p.Pro393His)
6g.107634469C>GCA365170449SOBPc.1625C>G (p.Pro542Arg)
c.1778C>G (p.Pro593Arg)
c.1682C>G (p.Pro561Arg)
c.1664C>G (p.Pro555Arg)
c.1037C>G (p.Pro346Arg)
c.848C>G (p.Pro283Arg)
c.1178C>G (p.Pro393Arg)
6g.107634469C>TCA365170446SOBPc.1625C>T (p.Pro542Leu)
c.1778C>T (p.Pro593Leu)
c.1682C>T (p.Pro561Leu)
c.1664C>T (p.Pro555Leu)
c.1037C>T (p.Pro346Leu)
c.848C>T (p.Pro283Leu)
c.1178C>T (p.Pro393Leu)
gnomAD v4
6g.107634470T>ACA451581654SOBPc.1626T>A (p.Pro542=)
c.1779T>A (p.Pro593=)
c.1683T>A (p.Pro561=)
c.1665T>A (p.Pro555=)
c.1038T>A (p.Pro346=)
c.849T>A (p.Pro283=)
c.1179T>A (p.Pro393=)
6g.107634470T>CCA451581656SOBPc.1626T>C (p.Pro542=)
c.1779T>C (p.Pro593=)
c.1683T>C (p.Pro561=)
c.1665T>C (p.Pro555=)
c.1038T>C (p.Pro346=)
c.849T>C (p.Pro283=)
c.1179T>C (p.Pro393=)
dbSNP gnomAD v3 gnomAD v4
6g.107634470T>GCA451581658SOBPc.1626T>G (p.Pro542=)
c.1779T>G (p.Pro593=)
c.1683T>G (p.Pro561=)
c.1665T>G (p.Pro555=)
c.1038T>G (p.Pro346=)
c.849T>G (p.Pro283=)
c.1179T>G (p.Pro393=)
6g.107634470T=CA1653938688SOBPc.1626T= (p.Pro542=)
c.1779T= (p.Pro593=)
c.1683T= (p.Pro561=)
c.1665T= (p.Pro555=)
c.1038T= (p.Pro346=)
c.849T= (p.Pro283=)
c.1179T= (p.Pro393=)
6g.107634471A=CA1653938692SOBPc.1627A= (p.Ile543=)
c.1780A= (p.Ile594=)
c.1684A= (p.Ile562=)
c.1666A= (p.Ile556=)
c.1039A= (p.Ile347=)
c.850A= (p.Ile284=)
c.1180A= (p.Ile394=)
6g.107634471A>CCA365170453SOBPc.1627A>C (p.Ile543Leu)
c.1780A>C (p.Ile594Leu)
c.1684A>C (p.Ile562Leu)
c.1666A>C (p.Ile556Leu)
c.1039A>C (p.Ile347Leu)
c.850A>C (p.Ile284Leu)
c.1180A>C (p.Ile394Leu)
6g.107634471A>GCA365170459SOBPc.1627A>G (p.Ile543Val)
c.1780A>G (p.Ile594Val)
c.1684A>G (p.Ile562Val)
c.1666A>G (p.Ile556Val)
c.1039A>G (p.Ile347Val)
c.850A>G (p.Ile284Val)
c.1180A>G (p.Ile394Val)
dbSNP
6g.107634471A>TCA365170456SOBPc.1627A>T (p.Ile543Phe)
c.1780A>T (p.Ile594Phe)
c.1684A>T (p.Ile562Phe)
c.1666A>T (p.Ile556Phe)
c.1039A>T (p.Ile347Phe)
c.850A>T (p.Ile284Phe)
c.1180A>T (p.Ile394Phe)
6g.107634472T>ACA365170463SOBPc.1628T>A (p.Ile543Asn)
c.1781T>A (p.Ile594Asn)
c.1685T>A (p.Ile562Asn)
c.1667T>A (p.Ile556Asn)
c.1040T>A (p.Ile347Asn)
c.851T>A (p.Ile284Asn)
c.1181T>A (p.Ile394Asn)
6g.107634472T>CCA365170479SOBPc.1628T>C (p.Ile543Thr)
c.1781T>C (p.Ile594Thr)
c.1685T>C (p.Ile562Thr)
c.1667T>C (p.Ile556Thr)
c.1040T>C (p.Ile347Thr)
c.851T>C (p.Ile284Thr)
c.1181T>C (p.Ile394Thr)
6g.107634472T>GCA365170483SOBPc.1628T>G (p.Ile543Ser)
c.1781T>G (p.Ile594Ser)
c.1685T>G (p.Ile562Ser)
c.1667T>G (p.Ile556Ser)
c.1040T>G (p.Ile347Ser)
c.851T>G (p.Ile284Ser)
c.1181T>G (p.Ile394Ser)
gnomAD v3 gnomAD v4
6g.107634473C>ACA451581665SOBPc.1629C>A (p.Ile543=)
c.1782C>A (p.Ile594=)
c.1686C>A (p.Ile562=)
c.1668C>A (p.Ile556=)
c.1041C>A (p.Ile347=)
c.852C>A (p.Ile284=)
c.1182C>A (p.Ile394=)
6g.107634473C=CA1653938697SOBPc.1629C= (p.Ile543=)
c.1782C= (p.Ile594=)
c.1686C= (p.Ile562=)
c.1668C= (p.Ile556=)
c.1041C= (p.Ile347=)
c.852C= (p.Ile284=)
c.1182C= (p.Ile394=)
6g.107634473C>GCA365170488SOBPc.1629C>G (p.Ile543Met)
c.1782C>G (p.Ile594Met)
c.1686C>G (p.Ile562Met)
c.1668C>G (p.Ile556Met)
c.1041C>G (p.Ile347Met)
c.852C>G (p.Ile284Met)
c.1182C>G (p.Ile394Met)
6g.107634473C>TCA451581668SOBPc.1629C>T (p.Ile543=)
c.1782C>T (p.Ile594=)
c.1686C>T (p.Ile562=)
c.1668C>T (p.Ile556=)
c.1041C>T (p.Ile347=)
c.852C>T (p.Ile284=)
c.1182C>T (p.Ile394=)
dbSNP gnomAD v3 gnomAD v4
6g.107634474C>ACA365170492SOBPc.1630C>A (p.Pro544Thr)
c.1783C>A (p.Pro595Thr)
c.1687C>A (p.Pro563Thr)
c.1669C>A (p.Pro557Thr)
c.1042C>A (p.Pro348Thr)
c.853C>A (p.Pro285Thr)
c.1183C>A (p.Pro395Thr)
6g.107634474C=CA1653938700SOBPc.1630C= (p.Pro544=)
c.1783C= (p.Pro595=)
c.1687C= (p.Pro563=)
c.1669C= (p.Pro557=)
c.1042C= (p.Pro348=)
c.853C= (p.Pro285=)
c.1183C= (p.Pro395=)
6g.107634474C>GCA365170497SOBPc.1630C>G (p.Pro544Ala)
c.1783C>G (p.Pro595Ala)
c.1687C>G (p.Pro563Ala)
c.1669C>G (p.Pro557Ala)
c.1042C>G (p.Pro348Ala)
c.853C>G (p.Pro285Ala)
c.1183C>G (p.Pro395Ala)
6g.107634474C>TCA365170502SOBPc.1630C>T (p.Pro544Ser)
c.1783C>T (p.Pro595Ser)
c.1687C>T (p.Pro563Ser)
c.1669C>T (p.Pro557Ser)
c.1042C>T (p.Pro348Ser)
c.853C>T (p.Pro285Ser)
c.1183C>T (p.Pro395Ser)
dbSNP
6g.107634475C>ACA365170507SOBPc.1631C>A (p.Pro544His)
c.1784C>A (p.Pro595His)
c.1688C>A (p.Pro563His)
c.1670C>A (p.Pro557His)
c.1043C>A (p.Pro348His)
c.854C>A (p.Pro285His)
c.1184C>A (p.Pro395His)
gnomAD v4
6g.107634475C=CA1653938704SOBPc.1631C= (p.Pro544=)
c.1784C= (p.Pro595=)
c.1688C= (p.Pro563=)
c.1670C= (p.Pro557=)
c.1043C= (p.Pro348=)
c.854C= (p.Pro285=)
c.1184C= (p.Pro395=)
6g.107634475C>GCA365170510SOBPc.1631C>G (p.Pro544Arg)
c.1784C>G (p.Pro595Arg)
c.1688C>G (p.Pro563Arg)
c.1670C>G (p.Pro557Arg)
c.1043C>G (p.Pro348Arg)
c.854C>G (p.Pro285Arg)
c.1184C>G (p.Pro395Arg)
6g.107634475C>TCA3946552SOBPc.1631C>T (p.Pro544Leu)
c.1784C>T (p.Pro595Leu)
c.1688C>T (p.Pro563Leu)
c.1670C>T (p.Pro557Leu)
c.1043C>T (p.Pro348Leu)
c.854C>T (p.Pro285Leu)
c.1184C>T (p.Pro395Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.107634476T>ACA451581676SOBPc.1632T>A (p.Pro544=)
c.1785T>A (p.Pro595=)
c.1689T>A (p.Pro563=)
c.1671T>A (p.Pro557=)
c.1044T>A (p.Pro348=)
c.855T>A (p.Pro285=)
c.1185T>A (p.Pro395=)
6g.107634476T>CCA451581673SOBPc.1632T>C (p.Pro544=)
c.1785T>C (p.Pro595=)
c.1689T>C (p.Pro563=)
c.1671T>C (p.Pro557=)
c.1044T>C (p.Pro348=)
c.855T>C (p.Pro285=)
c.1185T>C (p.Pro395=)
dbSNP gnomAD v3 gnomAD v4
6g.107634476T>GCA451581675SOBPc.1632T>G (p.Pro544=)
c.1785T>G (p.Pro595=)
c.1689T>G (p.Pro563=)
c.1671T>G (p.Pro557=)
c.1044T>G (p.Pro348=)
c.855T>G (p.Pro285=)
c.1185T>G (p.Pro395=)
6g.107634476T=CA1653938708SOBPc.1632T= (p.Pro544=)
c.1785T= (p.Pro595=)
c.1689T= (p.Pro563=)
c.1671T= (p.Pro557=)
c.1044T= (p.Pro348=)
c.855T= (p.Pro285=)
c.1185T= (p.Pro395=)
6g.107634477C>ACA365170524SOBPc.1633C>A (p.His545Asn)
c.1786C>A (p.His596Asn)
c.1690C>A (p.His564Asn)
c.1672C>A (p.His558Asn)
c.1045C>A (p.His349Asn)
c.856C>A (p.His286Asn)
c.1186C>A (p.His396Asn)
gnomAD v4
6g.107634477C=CA1653938710SOBPc.1633C= (p.His545=)
c.1786C= (p.His596=)
c.1690C= (p.His564=)
c.1672C= (p.His558=)
c.1045C= (p.His349=)
c.856C= (p.His286=)
c.1186C= (p.His396=)
6g.107634477C>GCA365170523SOBPc.1633C>G (p.His545Asp)
c.1786C>G (p.His596Asp)
c.1690C>G (p.His564Asp)
c.1672C>G (p.His558Asp)
c.1045C>G (p.His349Asp)
c.856C>G (p.His286Asp)
c.1186C>G (p.His396Asp)
6g.107634477C>TCA365170517SOBPc.1633C>T (p.His545Tyr)
c.1786C>T (p.His596Tyr)
c.1690C>T (p.His564Tyr)
c.1672C>T (p.His558Tyr)
c.1045C>T (p.His349Tyr)
c.856C>T (p.His286Tyr)
c.1186C>T (p.His396Tyr)
dbSNP gnomAD v2 gnomAD v4
6g.107634478A=CA1653938712SOBPc.1634A= (p.His545=)
c.1787A= (p.His596=)
c.1691A= (p.His564=)
c.1673A= (p.His558=)
c.1046A= (p.His349=)
c.857A= (p.His286=)
c.1187A= (p.His396=)
6g.107634478A>CCA365170531SOBPc.1634A>C (p.His545Pro)
c.1787A>C (p.His596Pro)
c.1691A>C (p.His564Pro)
c.1673A>C (p.His558Pro)
c.1046A>C (p.His349Pro)
c.857A>C (p.His286Pro)
c.1187A>C (p.His396Pro)
dbSNP gnomAD v3 gnomAD v4
6g.107634478A>GCA365170534SOBPc.1634A>G (p.His545Arg)
c.1787A>G (p.His596Arg)
c.1691A>G (p.His564Arg)
c.1673A>G (p.His558Arg)
c.1046A>G (p.His349Arg)
c.857A>G (p.His286Arg)
c.1187A>G (p.His396Arg)
6g.107634478A>TCA365170537SOBPc.1634A>T (p.His545Leu)
c.1787A>T (p.His596Leu)
c.1691A>T (p.His564Leu)
c.1673A>T (p.His558Leu)
c.1046A>T (p.His349Leu)
c.857A>T (p.His286Leu)
c.1187A>T (p.His396Leu)
6g.107634479C>ACA145013439SOBPc.1635C>A (p.His545Gln)
c.1788C>A (p.His596Gln)
c.1692C>A (p.His564Gln)
c.1674C>A (p.His558Gln)
c.1047C>A (p.His349Gln)
c.858C>A (p.His286Gln)
c.1188C>A (p.His396Gln)
dbSNP gnomAD v2 gnomAD v4
6g.107634479C=CA1653938714SOBPc.1635C= (p.His545=)
c.1788C= (p.His596=)
c.1692C= (p.His564=)
c.1674C= (p.His558=)
c.1047C= (p.His349=)
c.858C= (p.His286=)
c.1188C= (p.His396=)
6g.107634479C>GCA365170542SOBPc.1635C>G (p.His545Gln)
c.1788C>G (p.His596Gln)
c.1692C>G (p.His564Gln)
c.1674C>G (p.His558Gln)
c.1047C>G (p.His349Gln)
c.858C>G (p.His286Gln)
c.1188C>G (p.His396Gln)
6g.107634479C>TCA451581687SOBPc.1635C>T (p.His545=)
c.1788C>T (p.His596=)
c.1692C>T (p.His564=)
c.1674C>T (p.His558=)
c.1047C>T (p.His349=)
c.858C>T (p.His286=)
c.1188C>T (p.His396=)
dbSNP gnomAD v2 gnomAD v4
6g.107634480G>ACA365170546SOBPc.1636G>A (p.Val546Ile)
c.1789G>A (p.Val597Ile)
c.1693G>A (p.Val565Ile)
c.1675G>A (p.Val559Ile)
c.1048G>A (p.Val350Ile)
c.859G>A (p.Val287Ile)
c.1189G>A (p.Val397Ile)
dbSNP
6g.107634480G>CCA365170549SOBPc.1636G>C (p.Val546Leu)
c.1789G>C (p.Val597Leu)
c.1693G>C (p.Val565Leu)
c.1675G>C (p.Val559Leu)
c.1048G>C (p.Val350Leu)
c.859G>C (p.Val287Leu)
c.1189G>C (p.Val397Leu)
6g.107634480G=CA1653938720SOBPc.1636G= (p.Val546=)
c.1789G= (p.Val597=)
c.1693G= (p.Val565=)
c.1675G= (p.Val559=)
c.1048G= (p.Val350=)
c.859G= (p.Val287=)
c.1189G= (p.Val397=)
6g.107634480G>TCA365170554SOBPc.1636G>T (p.Val546Phe)
c.1789G>T (p.Val597Phe)
c.1693G>T (p.Val565Phe)
c.1675G>T (p.Val559Phe)
c.1048G>T (p.Val350Phe)
c.859G>T (p.Val287Phe)
c.1189G>T (p.Val397Phe)
6g.107634481T>ACA365170558SOBPc.1637T>A (p.Val546Asp)
c.1790T>A (p.Val597Asp)
c.1694T>A (p.Val565Asp)
c.1676T>A (p.Val559Asp)
c.1049T>A (p.Val350Asp)
c.860T>A (p.Val287Asp)
c.1190T>A (p.Val397Asp)
gnomAD v4
6g.107634481T>CCA365170561SOBPc.1637T>C (p.Val546Ala)
c.1790T>C (p.Val597Ala)
c.1694T>C (p.Val565Ala)
c.1676T>C (p.Val559Ala)
c.1049T>C (p.Val350Ala)
c.860T>C (p.Val287Ala)
c.1190T>C (p.Val397Ala)
6g.107634481T>GCA365170565SOBPc.1637T>G (p.Val546Gly)
c.1790T>G (p.Val597Gly)
c.1694T>G (p.Val565Gly)
c.1676T>G (p.Val559Gly)
c.1049T>G (p.Val350Gly)
c.860T>G (p.Val287Gly)
c.1190T>G (p.Val397Gly)
6g.107634482C>ACA451581690SOBPc.1638C>A (p.Val546=)
c.1791C>A (p.Val597=)
c.1695C>A (p.Val565=)
c.1677C>A (p.Val559=)
c.1050C>A (p.Val350=)
c.861C>A (p.Val287=)
c.1191C>A (p.Val397=)
6g.107634482C>GCA451581693SOBPc.1638C>G (p.Val546=)
c.1791C>G (p.Val597=)
c.1695C>G (p.Val565=)
c.1677C>G (p.Val559=)
c.1050C>G (p.Val350=)
c.861C>G (p.Val287=)
c.1191C>G (p.Val397=)
6g.107634482C>TCA451581691SOBPc.1638C>T (p.Val546=)
c.1791C>T (p.Val597=)
c.1695C>T (p.Val565=)
c.1677C>T (p.Val559=)
c.1050C>T (p.Val350=)
c.861C>T (p.Val287=)
c.1191C>T (p.Val397=)
6g.107634483A>CCA365170571SOBPc.1639A>C (p.Ser547Arg)
c.1792A>C (p.Ser598Arg)
c.1696A>C (p.Ser566Arg)
c.1678A>C (p.Ser560Arg)
c.1051A>C (p.Ser351Arg)
c.862A>C (p.Ser288Arg)
c.1192A>C (p.Ser398Arg)
6g.107634483A>GCA365170573SOBPc.1639A>G (p.Ser547Gly)
c.1792A>G (p.Ser598Gly)
c.1696A>G (p.Ser566Gly)
c.1678A>G (p.Ser560Gly)
c.1051A>G (p.Ser351Gly)
c.862A>G (p.Ser288Gly)
c.1192A>G (p.Ser398Gly)
gnomAD v4
6g.107634483A>TCA365170568SOBPc.1639A>T (p.Ser547Cys)
c.1792A>T (p.Ser598Cys)
c.1696A>T (p.Ser566Cys)
c.1678A>T (p.Ser560Cys)
c.1051A>T (p.Ser351Cys)
c.862A>T (p.Ser288Cys)
c.1192A>T (p.Ser398Cys)
6g.107634484G>ACA3946553SOBPc.1640G>A (p.Ser547Asn)
c.1793G>A (p.Ser598Asn)
c.1697G>A (p.Ser566Asn)
c.1679G>A (p.Ser560Asn)
c.1052G>A (p.Ser351Asn)
c.863G>A (p.Ser288Asn)
c.1193G>A (p.Ser398Asn)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107634484G>CCA365170579SOBPc.1640G>C (p.Ser547Thr)
c.1793G>C (p.Ser598Thr)
c.1697G>C (p.Ser566Thr)
c.1679G>C (p.Ser560Thr)
c.1052G>C (p.Ser351Thr)
c.863G>C (p.Ser288Thr)
c.1193G>C (p.Ser398Thr)
6g.107634484G=CA1653938722SOBPc.1640G= (p.Ser547=)
c.1793G= (p.Ser598=)
c.1697G= (p.Ser566=)
c.1679G= (p.Ser560=)
c.1052G= (p.Ser351=)
c.863G= (p.Ser288=)
c.1193G= (p.Ser398=)
6g.107634484G>TCA365170582SOBPc.1640G>T (p.Ser547Ile)
c.1793G>T (p.Ser598Ile)
c.1697G>T (p.Ser566Ile)
c.1679G>T (p.Ser560Ile)
c.1052G>T (p.Ser351Ile)
c.863G>T (p.Ser288Ile)
c.1193G>T (p.Ser398Ile)
6g.107634485C>ACA365170587SOBPc.1641C>A (p.Ser547Arg)
c.1794C>A (p.Ser598Arg)
c.1698C>A (p.Ser566Arg)
c.1680C>A (p.Ser560Arg)
c.1053C>A (p.Ser351Arg)
c.864C>A (p.Ser288Arg)
c.1194C>A (p.Ser398Arg)
6g.107634485C>GCA365170590SOBPc.1641C>G (p.Ser547Arg)
c.1794C>G (p.Ser598Arg)
c.1698C>G (p.Ser566Arg)
c.1680C>G (p.Ser560Arg)
c.1053C>G (p.Ser351Arg)
c.864C>G (p.Ser288Arg)
c.1194C>G (p.Ser398Arg)
6g.107634485C>TCA451581702SOBPc.1641C>T (p.Ser547=)
c.1794C>T (p.Ser598=)
c.1698C>T (p.Ser566=)
c.1680C>T (p.Ser560=)
c.1053C>T (p.Ser351=)
c.864C>T (p.Ser288=)
c.1194C>T (p.Ser398=)
6g.107634486G>ACA365170603SOBPc.1642G>A (p.Asp548Asn)
c.1795G>A (p.Asp599Asn)
c.1699G>A (p.Asp567Asn)
c.1681G>A (p.Asp561Asn)
c.1054G>A (p.Asp352Asn)
c.865G>A (p.Asp289Asn)
c.1195G>A (p.Asp399Asn)
gnomAD v4
6g.107634486G>CCA365170595SOBPc.1642G>C (p.Asp548His)
c.1795G>C (p.Asp599His)
c.1699G>C (p.Asp567His)
c.1681G>C (p.Asp561His)
c.1054G>C (p.Asp352His)
c.865G>C (p.Asp289His)
c.1195G>C (p.Asp399His)
6g.107634486G=CA1653938725SOBPc.1642G= (p.Asp548=)
c.1795G= (p.Asp599=)
c.1699G= (p.Asp567=)
c.1681G= (p.Asp561=)
c.1054G= (p.Asp352=)
c.865G= (p.Asp289=)
c.1195G= (p.Asp399=)
6g.107634486G>TCA365170598SOBPc.1642G>T (p.Asp548Tyr)
c.1795G>T (p.Asp599Tyr)
c.1699G>T (p.Asp567Tyr)
c.1681G>T (p.Asp561Tyr)
c.1054G>T (p.Asp352Tyr)
c.865G>T (p.Asp289Tyr)
c.1195G>T (p.Asp399Tyr)
dbSNP gnomAD v4
6g.107634487A>CCA365170609SOBPc.1643A>C (p.Asp548Ala)
c.1796A>C (p.Asp599Ala)
c.1700A>C (p.Asp567Ala)
c.1682A>C (p.Asp561Ala)
c.1055A>C (p.Asp352Ala)
c.866A>C (p.Asp289Ala)
c.1196A>C (p.Asp399Ala)
6g.107634487A>GCA365170612SOBPc.1643A>G (p.Asp548Gly)
c.1796A>G (p.Asp599Gly)
c.1700A>G (p.Asp567Gly)
c.1682A>G (p.Asp561Gly)
c.1055A>G (p.Asp352Gly)
c.866A>G (p.Asp289Gly)
c.1196A>G (p.Asp399Gly)
6g.107634487A>TCA365170616SOBPc.1643A>T (p.Asp548Val)
c.1796A>T (p.Asp599Val)
c.1700A>T (p.Asp567Val)
c.1682A>T (p.Asp561Val)
c.1055A>T (p.Asp352Val)
c.866A>T (p.Asp289Val)
c.1196A>T (p.Asp399Val)
6g.107634488C>ACA365170619SOBPc.1644C>A (p.Asp548Glu)
c.1797C>A (p.Asp599Glu)
c.1701C>A (p.Asp567Glu)
c.1683C>A (p.Asp561Glu)
c.1056C>A (p.Asp352Glu)
c.867C>A (p.Asp289Glu)
c.1197C>A (p.Asp399Glu)
6g.107634488C>GCA365170623SOBPc.1644C>G (p.Asp548Glu)
c.1797C>G (p.Asp599Glu)
c.1701C>G (p.Asp567Glu)
c.1683C>G (p.Asp561Glu)
c.1056C>G (p.Asp352Glu)
c.867C>G (p.Asp289Glu)
c.1197C>G (p.Asp399Glu)
6g.107634488C>TCA451581706SOBPc.1644C>T (p.Asp548=)
c.1797C>T (p.Asp599=)
c.1701C>T (p.Asp567=)
c.1683C>T (p.Asp561=)
c.1056C>T (p.Asp352=)
c.867C>T (p.Asp289=)
c.1197C>T (p.Asp399=)
gnomAD v4
6g.107634489T>ACA365170626SOBPc.1645T>A (p.Ser549Thr)
c.1798T>A (p.Ser600Thr)
c.1702T>A (p.Ser568Thr)
c.1684T>A (p.Ser562Thr)
c.1057T>A (p.Ser353Thr)
c.868T>A (p.Ser290Thr)
c.1198T>A (p.Ser400Thr)
6g.107634489T>CCA365170632SOBPc.1645T>C (p.Ser549Pro)
c.1798T>C (p.Ser600Pro)
c.1702T>C (p.Ser568Pro)
c.1684T>C (p.Ser562Pro)
c.1057T>C (p.Ser353Pro)
c.868T>C (p.Ser290Pro)
c.1198T>C (p.Ser400Pro)
6g.107634489T>GCA365170627SOBPc.1645T>G (p.Ser549Ala)
c.1798T>G (p.Ser600Ala)
c.1702T>G (p.Ser568Ala)
c.1684T>G (p.Ser562Ala)
c.1057T>G (p.Ser353Ala)
c.868T>G (p.Ser290Ala)
c.1198T>G (p.Ser400Ala)
6g.107634490C>ACA365170638SOBPc.1646C>A (p.Ser549Tyr)
c.1799C>A (p.Ser600Tyr)
c.1703C>A (p.Ser568Tyr)
c.1685C>A (p.Ser562Tyr)
c.1058C>A (p.Ser353Tyr)
c.869C>A (p.Ser290Tyr)
c.1199C>A (p.Ser400Tyr)
6g.107634490C>GCA365170642SOBPc.1646C>G (p.Ser549Cys)
c.1799C>G (p.Ser600Cys)
c.1703C>G (p.Ser568Cys)
c.1685C>G (p.Ser562Cys)
c.1058C>G (p.Ser353Cys)
c.869C>G (p.Ser290Cys)
c.1199C>G (p.Ser400Cys)
6g.107634490C>TCA365170646SOBPc.1646C>T (p.Ser549Phe)
c.1799C>T (p.Ser600Phe)
c.1703C>T (p.Ser568Phe)
c.1685C>T (p.Ser562Phe)
c.1058C>T (p.Ser353Phe)
c.869C>T (p.Ser290Phe)
c.1199C>T (p.Ser400Phe)
gnomAD v4
6g.107634491C>ACA451581708SOBPc.1647C>A (p.Ser549=)
c.1800C>A (p.Ser600=)
c.1704C>A (p.Ser568=)
c.1686C>A (p.Ser562=)
c.1059C>A (p.Ser353=)
c.870C>A (p.Ser290=)
c.1200C>A (p.Ser400=)
6g.107634491C=CA1653938727SOBPc.1647C= (p.Ser549=)
c.1800C= (p.Ser600=)
c.1704C= (p.Ser568=)
c.1686C= (p.Ser562=)
c.1059C= (p.Ser353=)
c.870C= (p.Ser290=)
c.1200C= (p.Ser400=)
6g.107634491C>GCA451581710SOBPc.1647C>G (p.Ser549=)
c.1800C>G (p.Ser600=)
c.1704C>G (p.Ser568=)
c.1686C>G (p.Ser562=)
c.1059C>G (p.Ser353=)
c.870C>G (p.Ser290=)
c.1200C>G (p.Ser400=)
dbSNP gnomAD v4
6g.107634491C>TCA451581712SOBPc.1647C>T (p.Ser549=)
c.1800C>T (p.Ser600=)
c.1704C>T (p.Ser568=)
c.1686C>T (p.Ser562=)
c.1059C>T (p.Ser353=)
c.870C>T (p.Ser290=)
c.1200C>T (p.Ser400=)
dbSNP gnomAD v2 gnomAD v4
6g.107634492A=CA1653938730SOBPc.1648A= (p.Lys550=)
c.1801A= (p.Lys601=)
c.1705A= (p.Lys569=)
c.1687A= (p.Lys563=)
c.1060A= (p.Lys354=)
c.871A= (p.Lys291=)
c.1201A= (p.Lys401=)
6g.107634492A>CCA145013455SOBPc.1648A>C (p.Lys550Gln)
c.1801A>C (p.Lys601Gln)
c.1705A>C (p.Lys569Gln)
c.1687A>C (p.Lys563Gln)
c.1060A>C (p.Lys354Gln)
c.871A>C (p.Lys291Gln)
c.1201A>C (p.Lys401Gln)
dbSNP gnomAD v4
6g.107634492A>GCA365170655SOBPc.1648A>G (p.Lys550Glu)
c.1801A>G (p.Lys601Glu)
c.1705A>G (p.Lys569Glu)
c.1687A>G (p.Lys563Glu)
c.1060A>G (p.Lys354Glu)
c.871A>G (p.Lys291Glu)
c.1201A>G (p.Lys401Glu)
6g.107634492A>TCA365170659SOBPc.1648A>T (p.Lys550Ter)
c.1801A>T (p.Lys601Ter)
c.1705A>T (p.Lys569Ter)
c.1687A>T (p.Lys563Ter)
c.1060A>T (p.Lys354Ter)
c.871A>T (p.Lys291Ter)
c.1201A>T (p.Lys401Ter)
6g.107634493A=CA1653938734SOBPc.1649A= (p.Lys550=)
c.1802A= (p.Lys601=)
c.1706A= (p.Lys569=)
c.1688A= (p.Lys563=)
c.1061A= (p.Lys354=)
c.872A= (p.Lys291=)
c.1202A= (p.Lys401=)
6g.107634493A>CCA365170663SOBPc.1649A>C (p.Lys550Thr)
c.1802A>C (p.Lys601Thr)
c.1706A>C (p.Lys569Thr)
c.1688A>C (p.Lys563Thr)
c.1061A>C (p.Lys354Thr)
c.872A>C (p.Lys291Thr)
c.1202A>C (p.Lys401Thr)
6g.107634493A>GCA365170666SOBPc.1649A>G (p.Lys550Arg)
c.1802A>G (p.Lys601Arg)
c.1706A>G (p.Lys569Arg)
c.1688A>G (p.Lys563Arg)
c.1061A>G (p.Lys354Arg)
c.872A>G (p.Lys291Arg)
c.1202A>G (p.Lys401Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634493A>TCA365170671SOBPc.1649A>T (p.Lys550Met)
c.1802A>T (p.Lys601Met)
c.1706A>T (p.Lys569Met)
c.1688A>T (p.Lys563Met)
c.1061A>T (p.Lys354Met)
c.872A>T (p.Lys291Met)
c.1202A>T (p.Lys401Met)
6g.107634494G>ACA3946555SOBPc.1650G>A (p.Lys550=)
c.1803G>A (p.Lys601=)
c.1707G>A (p.Lys569=)
c.1689G>A (p.Lys563=)
c.1062G>A (p.Lys354=)
c.873G>A (p.Lys291=)
c.1203G>A (p.Lys401=)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.107634494G>CCA365170678SOBPc.1650G>C (p.Lys550Asn)
c.1803G>C (p.Lys601Asn)
c.1707G>C (p.Lys569Asn)
c.1689G>C (p.Lys563Asn)
c.1062G>C (p.Lys354Asn)
c.873G>C (p.Lys291Asn)
c.1203G>C (p.Lys401Asn)
6g.107634494G=CA1653938737SOBPc.1650G= (p.Lys550=)
c.1803G= (p.Lys601=)
c.1707G= (p.Lys569=)
c.1689G= (p.Lys563=)
c.1062G= (p.Lys354=)
c.873G= (p.Lys291=)
c.1203G= (p.Lys401=)
6g.107634494G>TCA3946554SOBPc.1650G>T (p.Lys550Asn)
c.1803G>T (p.Lys601Asn)
c.1707G>T (p.Lys569Asn)
c.1689G>T (p.Lys563Asn)
c.1062G>T (p.Lys354Asn)
c.873G>T (p.Lys291Asn)
c.1203G>T (p.Lys401Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.107634495C>ACA365170683SOBPc.1651C>A (p.Pro551Thr)
c.1804C>A (p.Pro602Thr)
c.1708C>A (p.Pro570Thr)
c.1690C>A (p.Pro564Thr)
c.1063C>A (p.Pro355Thr)
c.874C>A (p.Pro292Thr)
c.1204C>A (p.Pro402Thr)
dbSNP gnomAD v4
6g.107634495C=CA1653938745SOBPc.1651C= (p.Pro551=)
c.1804C= (p.Pro602=)
c.1708C= (p.Pro570=)
c.1690C= (p.Pro564=)
c.1063C= (p.Pro355=)
c.874C= (p.Pro292=)
c.1204C= (p.Pro402=)
6g.107634495C>GCA365170687SOBPc.1651C>G (p.Pro551Ala)
c.1804C>G (p.Pro602Ala)
c.1708C>G (p.Pro570Ala)
c.1690C>G (p.Pro564Ala)
c.1063C>G (p.Pro355Ala)
c.874C>G (p.Pro292Ala)
c.1204C>G (p.Pro402Ala)
6g.107634495C>TCA365170680SOBPc.1651C>T (p.Pro551Ser)
c.1804C>T (p.Pro602Ser)
c.1708C>T (p.Pro570Ser)
c.1690C>T (p.Pro564Ser)
c.1063C>T (p.Pro355Ser)
c.874C>T (p.Pro292Ser)
c.1204C>T (p.Pro402Ser)
gnomAD v4
6g.107634500dupCA451581718SOBPc.1656dup (p.Asn553GlnfsTer?)
c.1809dup (p.Asn604GlnfsTer?)
c.1713dup (p.Asn572GlnfsTer?)
c.1695dup (p.Asn566GlnfsTer?)
c.1068dup (p.Asn357GlnfsTer?)
c.879dup (p.Asn294GlnfsTer?)
c.1209dup (p.Asn404GlnfsTer?)
gnomAD v2 gnomAD v4 COSMIC
6g.107634499_107634500dupCA2772523014SOBPc.1655_1656dup (p.Asn553ProfsTer?)
c.1808_1809dup (p.Asn604ProfsTer?)
c.1712_1713dup (p.Asn572ProfsTer?)
c.1694_1695dup (p.Asn566ProfsTer?)
c.1067_1068dup (p.Asn357ProfsTer?)
c.878_879dup (p.Asn294ProfsTer?)
c.1208_1209dup (p.Asn404ProfsTer?)
6g.107634496C>ACA365170697SOBPc.1652C>A (p.Pro551His)
c.1805C>A (p.Pro602His)
c.1709C>A (p.Pro570His)
c.1691C>A (p.Pro564His)
c.1064C>A (p.Pro355His)
c.875C>A (p.Pro292His)
c.1205C>A (p.Pro402His)
gnomAD v4
6g.107634496C=CA1653938749SOBPc.1652C= (p.Pro551=)
c.1805C= (p.Pro602=)
c.1709C= (p.Pro570=)
c.1691C= (p.Pro564=)
c.1064C= (p.Pro355=)
c.875C= (p.Pro292=)
c.1205C= (p.Pro402=)
6g.107634496C>GCA365170694SOBPc.1652C>G (p.Pro551Arg)
c.1805C>G (p.Pro602Arg)
c.1709C>G (p.Pro570Arg)
c.1691C>G (p.Pro564Arg)
c.1064C>G (p.Pro355Arg)
c.875C>G (p.Pro292Arg)
c.1205C>G (p.Pro402Arg)
6g.107634496C>TCA365170702SOBPc.1652C>T (p.Pro551Leu)
c.1805C>T (p.Pro602Leu)
c.1709C>T (p.Pro570Leu)
c.1691C>T (p.Pro564Leu)
c.1064C>T (p.Pro355Leu)
c.875C>T (p.Pro292Leu)
c.1205C>T (p.Pro402Leu)
dbSNP gnomAD v2 gnomAD v4
6g.107634497C>ACA451581720SOBPc.1653C>A (p.Pro551=)
c.1806C>A (p.Pro602=)
c.1710C>A (p.Pro570=)
c.1692C>A (p.Pro564=)
c.1065C>A (p.Pro355=)
c.876C>A (p.Pro292=)
c.1206C>A (p.Pro402=)
gnomAD v4
6g.107634497C>GCA451581722SOBPc.1653C>G (p.Pro551=)
c.1806C>G (p.Pro602=)
c.1710C>G (p.Pro570=)
c.1692C>G (p.Pro564=)
c.1065C>G (p.Pro355=)
c.876C>G (p.Pro292=)
c.1206C>G (p.Pro402=)
6g.107634497C>TCA451581723SOBPc.1653C>T (p.Pro551=)
c.1806C>T (p.Pro602=)
c.1710C>T (p.Pro570=)
c.1692C>T (p.Pro564=)
c.1065C>T (p.Pro355=)
c.876C>T (p.Pro292=)
c.1206C>T (p.Pro402=)
6g.107634498C>ACA365170708SOBPc.1654C>A (p.Pro552Thr)
c.1807C>A (p.Pro603Thr)
c.1711C>A (p.Pro571Thr)
c.1693C>A (p.Pro565Thr)
c.1066C>A (p.Pro356Thr)
c.877C>A (p.Pro293Thr)
c.1207C>A (p.Pro403Thr)
gnomAD v4
6g.107634498C=CA1653938754SOBPc.1654C= (p.Pro552=)
c.1807C= (p.Pro603=)
c.1711C= (p.Pro571=)
c.1693C= (p.Pro565=)
c.1066C= (p.Pro356=)
c.877C= (p.Pro293=)
c.1207C= (p.Pro403=)
6g.107634498C>GCA365170710SOBPc.1654C>G (p.Pro552Ala)
c.1807C>G (p.Pro603Ala)
c.1711C>G (p.Pro571Ala)
c.1693C>G (p.Pro565Ala)
c.1066C>G (p.Pro356Ala)
c.877C>G (p.Pro293Ala)
c.1207C>G (p.Pro403Ala)
6g.107634498C>TCA145013478SOBPc.1654C>T (p.Pro552Ser)
c.1807C>T (p.Pro603Ser)
c.1711C>T (p.Pro571Ser)
c.1693C>T (p.Pro565Ser)
c.1066C>T (p.Pro356Ser)
c.877C>T (p.Pro293Ser)
c.1207C>T (p.Pro403Ser)
dbSNP gnomAD v3 gnomAD v4
6g.107634499C>ACA365170716SOBPc.1655C>A (p.Pro552His)
c.1808C>A (p.Pro603His)
c.1712C>A (p.Pro571His)
c.1694C>A (p.Pro565His)
c.1067C>A (p.Pro356His)
c.878C>A (p.Pro293His)
c.1208C>A (p.Pro403His)
dbSNP gnomAD v4
6g.107634499C=CA1653938756SOBPc.1655C= (p.Pro552=)
c.1808C= (p.Pro603=)
c.1712C= (p.Pro571=)
c.1694C= (p.Pro565=)
c.1067C= (p.Pro356=)
c.878C= (p.Pro293=)
c.1208C= (p.Pro403=)
6g.107634499C>GCA3946556SOBPc.1655C>G (p.Pro552Arg)
c.1808C>G (p.Pro603Arg)
c.1712C>G (p.Pro571Arg)
c.1694C>G (p.Pro565Arg)
c.1067C>G (p.Pro356Arg)
c.878C>G (p.Pro293Arg)
c.1208C>G (p.Pro403Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107634499C>TCA365170722SOBPc.1655C>T (p.Pro552Leu)
c.1808C>T (p.Pro603Leu)
c.1712C>T (p.Pro571Leu)
c.1694C>T (p.Pro565Leu)
c.1067C>T (p.Pro356Leu)
c.878C>T (p.Pro293Leu)
c.1208C>T (p.Pro403Leu)
6g.107634500C>ACA451581733SOBPc.1656C>A (p.Pro552=)
c.1809C>A (p.Pro603=)
c.1713C>A (p.Pro571=)
c.1695C>A (p.Pro565=)
c.1068C>A (p.Pro356=)
c.879C>A (p.Pro293=)
c.1209C>A (p.Pro403=)
6g.107634500C=CA1653938758SOBPc.1656C= (p.Pro552=)
c.1809C= (p.Pro603=)
c.1713C= (p.Pro571=)
c.1695C= (p.Pro565=)
c.1068C= (p.Pro356=)
c.879C= (p.Pro293=)
c.1209C= (p.Pro403=)
6g.107634500C>GCA451581734SOBPc.1656C>G (p.Pro552=)
c.1809C>G (p.Pro603=)
c.1713C>G (p.Pro571=)
c.1695C>G (p.Pro565=)
c.1068C>G (p.Pro356=)
c.879C>G (p.Pro293=)
c.1209C>G (p.Pro403=)
6g.107634500C>TCA3946557SOBPc.1656C>T (p.Pro552=)
c.1809C>T (p.Pro603=)
c.1713C>T (p.Pro571=)
c.1695C>T (p.Pro565=)
c.1068C>T (p.Pro356=)
c.879C>T (p.Pro293=)
c.1209C>T (p.Pro403=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107634501A>CCA365170729SOBPc.1657A>C (p.Asn553His)
c.1810A>C (p.Asn604His)
c.1714A>C (p.Asn572His)
c.1696A>C (p.Asn566His)
c.1069A>C (p.Asn357His)
c.880A>C (p.Asn294His)
c.1210A>C (p.Asn404His)
6g.107634501A>GCA365170733SOBPc.1657A>G (p.Asn553Asp)
c.1810A>G (p.Asn604Asp)
c.1714A>G (p.Asn572Asp)
c.1696A>G (p.Asn566Asp)
c.1069A>G (p.Asn357Asp)
c.880A>G (p.Asn294Asp)
c.1210A>G (p.Asn404Asp)
6g.107634501A>TCA365170736SOBPc.1657A>T (p.Asn553Tyr)
c.1810A>T (p.Asn604Tyr)
c.1714A>T (p.Asn572Tyr)
c.1696A>T (p.Asn566Tyr)
c.1069A>T (p.Asn357Tyr)
c.880A>T (p.Asn294Tyr)
c.1210A>T (p.Asn404Tyr)
6g.107634502A=CA1653938760SOBPc.1658A= (p.Asn553=)
c.1811A= (p.Asn604=)
c.1715A= (p.Asn572=)
c.1697A= (p.Asn566=)
c.1070A= (p.Asn357=)
c.881A= (p.Asn294=)
c.1211A= (p.Asn404=)
6g.107634502A>CCA365170741SOBPc.1658A>C (p.Asn553Thr)
c.1811A>C (p.Asn604Thr)
c.1715A>C (p.Asn572Thr)
c.1697A>C (p.Asn566Thr)
c.1070A>C (p.Asn357Thr)
c.881A>C (p.Asn294Thr)
c.1211A>C (p.Asn404Thr)
6g.107634502A>GCA3946558SOBPc.1658A>G (p.Asn553Ser)
c.1811A>G (p.Asn604Ser)
c.1715A>G (p.Asn572Ser)
c.1697A>G (p.Asn566Ser)
c.1070A>G (p.Asn357Ser)
c.881A>G (p.Asn294Ser)
c.1211A>G (p.Asn404Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107634502A>TCA365170745SOBPc.1658A>T (p.Asn553Ile)
c.1811A>T (p.Asn604Ile)
c.1715A>T (p.Asn572Ile)
c.1697A>T (p.Asn566Ile)
c.1070A>T (p.Asn357Ile)
c.881A>T (p.Asn294Ile)
c.1211A>T (p.Asn404Ile)
dbSNP
6g.107634503C>ACA365170748SOBPc.1659C>A (p.Asn553Lys)
c.1812C>A (p.Asn604Lys)
c.1716C>A (p.Asn572Lys)
c.1698C>A (p.Asn566Lys)
c.1071C>A (p.Asn357Lys)
c.882C>A (p.Asn294Lys)
c.1212C>A (p.Asn404Lys)
6g.107634503C>GCA365170750SOBPc.1659C>G (p.Asn553Lys)
c.1812C>G (p.Asn604Lys)
c.1716C>G (p.Asn572Lys)
c.1698C>G (p.Asn566Lys)
c.1071C>G (p.Asn357Lys)
c.882C>G (p.Asn294Lys)
c.1212C>G (p.Asn404Lys)
6g.107634503C>TCA451581738SOBPc.1659C>T (p.Asn553=)
c.1812C>T (p.Asn604=)
c.1716C>T (p.Asn572=)
c.1698C>T (p.Asn566=)
c.1071C>T (p.Asn357=)
c.882C>T (p.Asn294=)
c.1212C>T (p.Asn404=)
6g.107634504G>ACA365170755SOBPc.1660G>A (p.Gly554Arg)
c.1813G>A (p.Gly605Arg)
c.1717G>A (p.Gly573Arg)
c.1699G>A (p.Gly567Arg)
c.1072G>A (p.Gly358Arg)
c.883G>A (p.Gly295Arg)
c.1213G>A (p.Gly405Arg)
gnomAD v4
6g.107634504G>CCA365170758SOBPc.1660G>C (p.Gly554Arg)
c.1813G>C (p.Gly605Arg)
c.1717G>C (p.Gly573Arg)
c.1699G>C (p.Gly567Arg)
c.1072G>C (p.Gly358Arg)
c.883G>C (p.Gly295Arg)
c.1213G>C (p.Gly405Arg)
gnomAD v4
6g.107634504G>TCA365170760SOBPc.1660G>T (p.Gly554Trp)
c.1813G>T (p.Gly605Trp)
c.1717G>T (p.Gly573Trp)
c.1699G>T (p.Gly567Trp)
c.1072G>T (p.Gly358Trp)
c.883G>T (p.Gly295Trp)
c.1213G>T (p.Gly405Trp)
6g.107634505G>ACA365170764SOBPc.1661G>A (p.Gly554Glu)
c.1814G>A (p.Gly605Glu)
c.1718G>A (p.Gly573Glu)
c.1700G>A (p.Gly567Glu)
c.1073G>A (p.Gly358Glu)
c.884G>A (p.Gly295Glu)
c.1214G>A (p.Gly405Glu)
6g.107634505G>CCA365170768SOBPc.1661G>C (p.Gly554Ala)
c.1814G>C (p.Gly605Ala)
c.1718G>C (p.Gly573Ala)
c.1700G>C (p.Gly567Ala)
c.1073G>C (p.Gly358Ala)
c.884G>C (p.Gly295Ala)
c.1214G>C (p.Gly405Ala)
6g.107634505G>TCA365170771SOBPc.1661G>T (p.Gly554Val)
c.1814G>T (p.Gly605Val)
c.1718G>T (p.Gly573Val)
c.1700G>T (p.Gly567Val)
c.1073G>T (p.Gly358Val)
c.884G>T (p.Gly295Val)
c.1214G>T (p.Gly405Val)
gnomAD v4
6g.107634506G>ACA451581739SOBPc.1662G>A (p.Gly554=)
c.1815G>A (p.Gly605=)
c.1719G>A (p.Gly573=)
c.1701G>A (p.Gly567=)
c.1074G>A (p.Gly358=)
c.885G>A (p.Gly295=)
c.1215G>A (p.Gly405=)
gnomAD v4
6g.107634506G>CCA451581740SOBPc.1662G>C (p.Gly554=)
c.1815G>C (p.Gly605=)
c.1719G>C (p.Gly573=)
c.1701G>C (p.Gly567=)
c.1074G>C (p.Gly358=)
c.885G>C (p.Gly295=)
c.1215G>C (p.Gly405=)
dbSNP
6g.107634506G>TCA451581742SOBPc.1662G>T (p.Gly554=)
c.1815G>T (p.Gly605=)
c.1719G>T (p.Gly573=)
c.1701G>T (p.Gly567=)
c.1074G>T (p.Gly358=)
c.885G>T (p.Gly295=)
c.1215G>T (p.Gly405=)
6g.107634507T>ACA365170775SOBPc.1663T>A (p.Phe555Ile)
c.1816T>A (p.Phe606Ile)
c.1720T>A (p.Phe574Ile)
c.1702T>A (p.Phe568Ile)
c.1075T>A (p.Phe359Ile)
c.886T>A (p.Phe296Ile)
c.1216T>A (p.Phe406Ile)
6g.107634507T>CCA365170778SOBPc.1663T>C (p.Phe555Leu)
c.1816T>C (p.Phe606Leu)
c.1720T>C (p.Phe574Leu)
c.1702T>C (p.Phe568Leu)
c.1075T>C (p.Phe359Leu)
c.886T>C (p.Phe296Leu)
c.1216T>C (p.Phe406Leu)
6g.107634507T>GCA365170782SOBPc.1663T>G (p.Phe555Val)
c.1816T>G (p.Phe606Val)
c.1720T>G (p.Phe574Val)
c.1702T>G (p.Phe568Val)
c.1075T>G (p.Phe359Val)
c.886T>G (p.Phe296Val)
c.1216T>G (p.Phe406Val)
6g.107634508T>ACA365170786SOBPc.1664T>A (p.Phe555Tyr)
c.1817T>A (p.Phe606Tyr)
c.1721T>A (p.Phe574Tyr)
c.1703T>A (p.Phe568Tyr)
c.1076T>A (p.Phe359Tyr)
c.887T>A (p.Phe296Tyr)
c.1217T>A (p.Phe406Tyr)
gnomAD v4
6g.107634508T>CCA365170788SOBPc.1664T>C (p.Phe555Ser)
c.1817T>C (p.Phe606Ser)
c.1721T>C (p.Phe574Ser)
c.1703T>C (p.Phe568Ser)
c.1076T>C (p.Phe359Ser)
c.887T>C (p.Phe296Ser)
c.1217T>C (p.Phe406Ser)
6g.107634508T>GCA365170790SOBPc.1664T>G (p.Phe555Cys)
c.1817T>G (p.Phe606Cys)
c.1721T>G (p.Phe574Cys)
c.1703T>G (p.Phe568Cys)
c.1076T>G (p.Phe359Cys)
c.887T>G (p.Phe296Cys)
c.1217T>G (p.Phe406Cys)
6g.107634509C>ACA365170795SOBPc.1665C>A (p.Phe555Leu)
c.1818C>A (p.Phe606Leu)
c.1722C>A (p.Phe574Leu)
c.1704C>A (p.Phe568Leu)
c.1077C>A (p.Phe359Leu)
c.888C>A (p.Phe296Leu)
c.1218C>A (p.Phe406Leu)
dbSNP gnomAD v2 gnomAD v4
6g.107634509C=CA1653938763SOBPc.1665C= (p.Phe555=)
c.1818C= (p.Phe606=)
c.1722C= (p.Phe574=)
c.1704C= (p.Phe568=)
c.1077C= (p.Phe359=)
c.888C= (p.Phe296=)
c.1218C= (p.Phe406=)
6g.107634509C>GCA365170793SOBPc.1665C>G (p.Phe555Leu)
c.1818C>G (p.Phe606Leu)
c.1722C>G (p.Phe574Leu)
c.1704C>G (p.Phe568Leu)
c.1077C>G (p.Phe359Leu)
c.888C>G (p.Phe296Leu)
c.1218C>G (p.Phe406Leu)
6g.107634509C>TCA451581746SOBPc.1665C>T (p.Phe555=)
c.1818C>T (p.Phe606=)
c.1722C>T (p.Phe574=)
c.1704C>T (p.Phe568=)
c.1077C>T (p.Phe359=)
c.888C>T (p.Phe296=)
c.1218C>T (p.Phe406=)
dbSNP
6g.107634510T>ACA365170798SOBPc.1666T>A (p.Ser556Thr)
c.1819T>A (p.Ser607Thr)
c.1723T>A (p.Ser575Thr)
c.1705T>A (p.Ser569Thr)
c.1078T>A (p.Ser360Thr)
c.889T>A (p.Ser297Thr)
c.1219T>A (p.Ser407Thr)
6g.107634510T>CCA365170800SOBPc.1666T>C (p.Ser556Pro)
c.1819T>C (p.Ser607Pro)
c.1723T>C (p.Ser575Pro)
c.1705T>C (p.Ser569Pro)
c.1078T>C (p.Ser360Pro)
c.889T>C (p.Ser297Pro)
c.1219T>C (p.Ser407Pro)
6g.107634510T>GCA365170802SOBPc.1666T>G (p.Ser556Ala)
c.1819T>G (p.Ser607Ala)
c.1723T>G (p.Ser575Ala)
c.1705T>G (p.Ser569Ala)
c.1078T>G (p.Ser360Ala)
c.889T>G (p.Ser297Ala)
c.1219T>G (p.Ser407Ala)
6g.107634511C>ACA365170805SOBPc.1667C>A (p.Ser556Tyr)
c.1820C>A (p.Ser607Tyr)
c.1724C>A (p.Ser575Tyr)
c.1706C>A (p.Ser569Tyr)
c.1079C>A (p.Ser360Tyr)
c.890C>A (p.Ser297Tyr)
c.1220C>A (p.Ser407Tyr)
6g.107634511C=CA1653938766SOBPc.1667C= (p.Ser556=)
c.1820C= (p.Ser607=)
c.1724C= (p.Ser575=)
c.1706C= (p.Ser569=)
c.1079C= (p.Ser360=)
c.890C= (p.Ser297=)
c.1220C= (p.Ser407=)
6g.107634511C>GCA365170807SOBPc.1667C>G (p.Ser556Cys)
c.1820C>G (p.Ser607Cys)
c.1724C>G (p.Ser575Cys)
c.1706C>G (p.Ser569Cys)
c.1079C>G (p.Ser360Cys)
c.890C>G (p.Ser297Cys)
c.1220C>G (p.Ser407Cys)
6g.107634511C>TCA365170809SOBPc.1667C>T (p.Ser556Phe)
c.1820C>T (p.Ser607Phe)
c.1724C>T (p.Ser575Phe)
c.1706C>T (p.Ser569Phe)
c.1079C>T (p.Ser360Phe)
c.890C>T (p.Ser297Phe)
c.1220C>T (p.Ser407Phe)
dbSNP gnomAD v3 gnomAD v4
6g.107634512C>ACA451581750SOBPc.1668C>A (p.Ser556=)
c.1821C>A (p.Ser607=)
c.1725C>A (p.Ser575=)
c.1707C>A (p.Ser569=)
c.1080C>A (p.Ser360=)
c.891C>A (p.Ser297=)
c.1221C>A (p.Ser407=)
6g.107634512C>GCA451581751SOBPc.1668C>G (p.Ser556=)
c.1821C>G (p.Ser607=)
c.1725C>G (p.Ser575=)
c.1707C>G (p.Ser569=)
c.1080C>G (p.Ser360=)
c.891C>G (p.Ser297=)
c.1221C>G (p.Ser407=)
6g.107634512C>TCA451581752SOBPc.1668C>T (p.Ser556=)
c.1821C>T (p.Ser607=)
c.1725C>T (p.Ser575=)
c.1707C>T (p.Ser569=)
c.1080C>T (p.Ser360=)
c.891C>T (p.Ser297=)
c.1221C>T (p.Ser407=)
6g.107634513A>CCA365170813SOBPc.1669A>C (p.Ser557Arg)
c.1822A>C (p.Ser608Arg)
c.1726A>C (p.Ser576Arg)
c.1708A>C (p.Ser570Arg)
c.1081A>C (p.Ser361Arg)
c.892A>C (p.Ser298Arg)
c.1222A>C (p.Ser408Arg)
6g.107634513A>GCA365170811SOBPc.1669A>G (p.Ser557Gly)
c.1822A>G (p.Ser608Gly)
c.1726A>G (p.Ser576Gly)
c.1708A>G (p.Ser570Gly)
c.1081A>G (p.Ser361Gly)
c.892A>G (p.Ser298Gly)
c.1222A>G (p.Ser408Gly)
6g.107634513A>TCA365170810SOBPc.1669A>T (p.Ser557Cys)
c.1822A>T (p.Ser608Cys)
c.1726A>T (p.Ser576Cys)
c.1708A>T (p.Ser570Cys)
c.1081A>T (p.Ser361Cys)
c.892A>T (p.Ser298Cys)
c.1222A>T (p.Ser408Cys)
6g.107634514G>ACA365170816SOBPc.1670G>A (p.Ser557Asn)
c.1823G>A (p.Ser608Asn)
c.1727G>A (p.Ser576Asn)
c.1709G>A (p.Ser570Asn)
c.1082G>A (p.Ser361Asn)
c.893G>A (p.Ser298Asn)
c.1223G>A (p.Ser408Asn)
6g.107634514G>CCA365170819SOBPc.1670G>C (p.Ser557Thr)
c.1823G>C (p.Ser608Thr)
c.1727G>C (p.Ser576Thr)
c.1709G>C (p.Ser570Thr)
c.1082G>C (p.Ser361Thr)
c.893G>C (p.Ser298Thr)
c.1223G>C (p.Ser408Thr)
6g.107634514G>TCA365170821SOBPc.1670G>T (p.Ser557Ile)
c.1823G>T (p.Ser608Ile)
c.1727G>T (p.Ser576Ile)
c.1709G>T (p.Ser570Ile)
c.1082G>T (p.Ser361Ile)
c.893G>T (p.Ser298Ile)
c.1223G>T (p.Ser408Ile)
gnomAD v4
6g.107634515C>ACA365170824SOBPc.1671C>A (p.Ser557Arg)
c.1824C>A (p.Ser608Arg)
c.1728C>A (p.Ser576Arg)
c.1710C>A (p.Ser570Arg)
c.1083C>A (p.Ser361Arg)
c.894C>A (p.Ser298Arg)
c.1224C>A (p.Ser408Arg)
gnomAD v4
6g.107634515C=CA1653938768SOBPc.1671C= (p.Ser557=)
c.1824C= (p.Ser608=)
c.1728C= (p.Ser576=)
c.1710C= (p.Ser570=)
c.1083C= (p.Ser361=)
c.894C= (p.Ser298=)
c.1224C= (p.Ser408=)
6g.107634515C>GCA365170826SOBPc.1671C>G (p.Ser557Arg)
c.1824C>G (p.Ser608Arg)
c.1728C>G (p.Ser576Arg)
c.1710C>G (p.Ser570Arg)
c.1083C>G (p.Ser361Arg)
c.894C>G (p.Ser298Arg)
c.1224C>G (p.Ser408Arg)
6g.107634515C>TCA3946559SOBPc.1671C>T (p.Ser557=)
c.1824C>T (p.Ser608=)
c.1728C>T (p.Ser576=)
c.1710C>T (p.Ser570=)
c.1083C>T (p.Ser361=)
c.894C>T (p.Ser298=)
c.1224C>T (p.Ser408=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107634516A>CCA365170830SOBPc.1672A>C (p.Asn558His)
c.1825A>C (p.Asn609His)
c.1729A>C (p.Asn577His)
c.1711A>C (p.Asn571His)
c.1084A>C (p.Asn362His)
c.895A>C (p.Asn299His)
c.1225A>C (p.Asn409His)
6g.107634516A>GCA365170834SOBPc.1672A>G (p.Asn558Asp)
c.1825A>G (p.Asn609Asp)
c.1729A>G (p.Asn577Asp)
c.1711A>G (p.Asn571Asp)
c.1084A>G (p.Asn362Asp)
c.895A>G (p.Asn299Asp)
c.1225A>G (p.Asn409Asp)
6g.107634516A>TCA365170832SOBPc.1672A>T (p.Asn558Tyr)
c.1825A>T (p.Asn609Tyr)
c.1729A>T (p.Asn577Tyr)
c.1711A>T (p.Asn571Tyr)
c.1084A>T (p.Asn362Tyr)
c.895A>T (p.Asn299Tyr)
c.1225A>T (p.Asn409Tyr)
6g.107634517A>CCA365170837SOBPc.1673A>C (p.Asn558Thr)
c.1826A>C (p.Asn609Thr)
c.1730A>C (p.Asn577Thr)
c.1712A>C (p.Asn571Thr)
c.1085A>C (p.Asn362Thr)
c.896A>C (p.Asn299Thr)
c.1226A>C (p.Asn409Thr)
6g.107634517A>GCA365170839SOBPc.1673A>G (p.Asn558Ser)
c.1826A>G (p.Asn609Ser)
c.1730A>G (p.Asn577Ser)
c.1712A>G (p.Asn571Ser)
c.1085A>G (p.Asn362Ser)
c.896A>G (p.Asn299Ser)
c.1226A>G (p.Asn409Ser)
6g.107634517A>TCA365170841SOBPc.1673A>T (p.Asn558Ile)
c.1826A>T (p.Asn609Ile)
c.1730A>T (p.Asn577Ile)
c.1712A>T (p.Asn571Ile)
c.1085A>T (p.Asn362Ile)
c.896A>T (p.Asn299Ile)
c.1226A>T (p.Asn409Ile)
6g.107634518C>ACA365170842SOBPc.1674C>A (p.Asn558Lys)
c.1827C>A (p.Asn609Lys)
c.1731C>A (p.Asn577Lys)
c.1713C>A (p.Asn571Lys)
c.1086C>A (p.Asn362Lys)
c.897C>A (p.Asn299Lys)
c.1227C>A (p.Asn409Lys)
6g.107634518C>GCA365170844SOBPc.1674C>G (p.Asn558Lys)
c.1827C>G (p.Asn609Lys)
c.1731C>G (p.Asn577Lys)
c.1713C>G (p.Asn571Lys)
c.1086C>G (p.Asn362Lys)
c.897C>G (p.Asn299Lys)
c.1227C>G (p.Asn409Lys)
gnomAD v4
6g.107634518C>TCA451581755SOBPc.1674C>T (p.Asn558=)
c.1827C>T (p.Asn609=)
c.1731C>T (p.Asn577=)
c.1713C>T (p.Asn571=)
c.1086C>T (p.Asn362=)
c.897C>T (p.Asn299=)
c.1227C>T (p.Asn409=)
6g.107634519G>ACA145013500SOBPc.1675G>A (p.Gly559Arg)
c.1828G>A (p.Gly610Arg)
c.1732G>A (p.Gly578Arg)
c.1714G>A (p.Gly572Arg)
c.1087G>A (p.Gly363Arg)
c.898G>A (p.Gly300Arg)
c.1228G>A (p.Gly410Arg)
dbSNP gnomAD v2 gnomAD v4 COSMIC
6g.107634519G>CCA365170848SOBPc.1675G>C (p.Gly559Arg)
c.1828G>C (p.Gly610Arg)
c.1732G>C (p.Gly578Arg)
c.1714G>C (p.Gly572Arg)
c.1087G>C (p.Gly363Arg)
c.898G>C (p.Gly300Arg)
c.1228G>C (p.Gly410Arg)
gnomAD v4
6g.107634519G=CA1653938770SOBPc.1675G= (p.Gly559=)
c.1828G= (p.Gly610=)
c.1732G= (p.Gly578=)
c.1714G= (p.Gly572=)
c.1087G= (p.Gly363=)
c.898G= (p.Gly300=)
c.1228G= (p.Gly410=)
6g.107634519G>TCA365170850SOBPc.1675G>T (p.Gly559Trp)
c.1828G>T (p.Gly610Trp)
c.1732G>T (p.Gly578Trp)
c.1714G>T (p.Gly572Trp)
c.1087G>T (p.Gly363Trp)
c.898G>T (p.Gly300Trp)
c.1228G>T (p.Gly410Trp)
6g.107634520G>ACA3946560SOBPc.1676G>A (p.Gly559Glu)
c.1829G>A (p.Gly610Glu)
c.1733G>A (p.Gly578Glu)
c.1715G>A (p.Gly572Glu)
c.1088G>A (p.Gly363Glu)
c.899G>A (p.Gly300Glu)
c.1229G>A (p.Gly410Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.107634520G>CCA365170852SOBPc.1676G>C (p.Gly559Ala)
c.1829G>C (p.Gly610Ala)
c.1733G>C (p.Gly578Ala)
c.1715G>C (p.Gly572Ala)
c.1088G>C (p.Gly363Ala)
c.899G>C (p.Gly300Ala)
c.1229G>C (p.Gly410Ala)
6g.107634520G=CA1653938772SOBPc.1676G= (p.Gly559=)
c.1829G= (p.Gly610=)
c.1733G= (p.Gly578=)
c.1715G= (p.Gly572=)
c.1088G= (p.Gly363=)
c.899G= (p.Gly300=)
c.1229G= (p.Gly410=)
6g.107634520G>TCA365170855SOBPc.1676G>T (p.Gly559Val)
c.1829G>T (p.Gly610Val)
c.1733G>T (p.Gly578Val)
c.1715G>T (p.Gly572Val)
c.1088G>T (p.Gly363Val)
c.899G>T (p.Gly300Val)
c.1229G>T (p.Gly410Val)
6g.107634521G>ACA451581759SOBPc.1677G>A (p.Gly559=)
c.1830G>A (p.Gly610=)
c.1734G>A (p.Gly578=)
c.1716G>A (p.Gly572=)
c.1089G>A (p.Gly363=)
c.900G>A (p.Gly300=)
c.1230G>A (p.Gly410=)
6g.107634521G>CCA451581761SOBPc.1677G>C (p.Gly559=)
c.1830G>C (p.Gly610=)
c.1734G>C (p.Gly578=)
c.1716G>C (p.Gly572=)
c.1089G>C (p.Gly363=)
c.900G>C (p.Gly300=)
c.1230G>C (p.Gly410=)
gnomAD v4
6g.107634521G>TCA451581762SOBPc.1677G>T (p.Gly559=)
c.1830G>T (p.Gly610=)
c.1734G>T (p.Gly578=)
c.1716G>T (p.Gly572=)
c.1089G>T (p.Gly363=)
c.900G>T (p.Gly300=)
c.1230G>T (p.Gly410=)
gnomAD v4
6g.107634522G>ACA365170862SOBPc.1678G>A (p.Glu560Lys)
c.1831G>A (p.Glu611Lys)
c.1735G>A (p.Glu579Lys)
c.1717G>A (p.Glu573Lys)
c.1090G>A (p.Glu364Lys)
c.901G>A (p.Glu301Lys)
c.1231G>A (p.Glu411Lys)
gnomAD v4 COSMIC
6g.107634522G>CCA365170860SOBPc.1678G>C (p.Glu560Gln)
c.1831G>C (p.Glu611Gln)
c.1735G>C (p.Glu579Gln)
c.1717G>C (p.Glu573Gln)
c.1090G>C (p.Glu364Gln)
c.901G>C (p.Glu301Gln)
c.1231G>C (p.Glu411Gln)
gnomAD v4
6g.107634522G>TCA365170858SOBPc.1678G>T (p.Glu560Ter)
c.1831G>T (p.Glu611Ter)
c.1735G>T (p.Glu579Ter)
c.1717G>T (p.Glu573Ter)
c.1090G>T (p.Glu364Ter)
c.901G>T (p.Glu301Ter)
c.1231G>T (p.Glu411Ter)
6g.107634523A=CA1653938774SOBPc.1679A= (p.Glu560=)
c.1832A= (p.Glu611=)
c.1736A= (p.Glu579=)
c.1718A= (p.Glu573=)
c.1091A= (p.Glu364=)
c.902A= (p.Glu301=)
c.1232A= (p.Glu411=)
6g.107634523A>CCA365170864SOBPc.1679A>C (p.Glu560Ala)
c.1832A>C (p.Glu611Ala)
c.1736A>C (p.Glu579Ala)
c.1718A>C (p.Glu573Ala)
c.1091A>C (p.Glu364Ala)
c.902A>C (p.Glu301Ala)
c.1232A>C (p.Glu411Ala)
6g.107634523A>GCA365170871SOBPc.1679A>G (p.Glu560Gly)
c.1832A>G (p.Glu611Gly)
c.1736A>G (p.Glu579Gly)
c.1718A>G (p.Glu573Gly)
c.1091A>G (p.Glu364Gly)
c.902A>G (p.Glu301Gly)
c.1232A>G (p.Glu411Gly)
dbSNP gnomAD v4
6g.107634523A>TCA365170873SOBPc.1679A>T (p.Glu560Val)
c.1832A>T (p.Glu611Val)
c.1736A>T (p.Glu579Val)
c.1718A>T (p.Glu573Val)
c.1091A>T (p.Glu364Val)
c.902A>T (p.Glu301Val)
c.1232A>T (p.Glu411Val)
6g.107634524G>ACA451581768SOBPc.1680G>A (p.Glu560=)
c.1833G>A (p.Glu611=)
c.1737G>A (p.Glu579=)
c.1719G>A (p.Glu573=)
c.1092G>A (p.Glu364=)
c.903G>A (p.Glu301=)
c.1233G>A (p.Glu411=)
dbSNP gnomAD v2
6g.107634524G>CCA365170877SOBPc.1680G>C (p.Glu560Asp)
c.1833G>C (p.Glu611Asp)
c.1737G>C (p.Glu579Asp)
c.1719G>C (p.Glu573Asp)
c.1092G>C (p.Glu364Asp)
c.903G>C (p.Glu301Asp)
c.1233G>C (p.Glu411Asp)
6g.107634524G=CA1653938777SOBPc.1680G= (p.Glu560=)
c.1833G= (p.Glu611=)
c.1737G= (p.Glu579=)
c.1719G= (p.Glu573=)
c.1092G= (p.Glu364=)
c.903G= (p.Glu301=)
c.1233G= (p.Glu411=)
6g.107634524G>TCA365170879SOBPc.1680G>T (p.Glu560Asp)
c.1833G>T (p.Glu611Asp)
c.1737G>T (p.Glu579Asp)
c.1719G>T (p.Glu573Asp)
c.1092G>T (p.Glu364Asp)
c.903G>T (p.Glu301Asp)
c.1233G>T (p.Glu411Asp)
6g.107634525A>CCA365170882SOBPc.1681A>C (p.Asn561His)
c.1834A>C (p.Asn612His)
c.1738A>C (p.Asn580His)
c.1720A>C (p.Asn574His)
c.1093A>C (p.Asn365His)
c.904A>C (p.Asn302His)
c.1234A>C (p.Asn412His)
6g.107634525A>GCA365170894SOBPc.1681A>G (p.Asn561Asp)
c.1834A>G (p.Asn612Asp)
c.1738A>G (p.Asn580Asp)
c.1720A>G (p.Asn574Asp)
c.1093A>G (p.Asn365Asp)
c.904A>G (p.Asn302Asp)
c.1234A>G (p.Asn412Asp)
6g.107634525A>TCA365170897SOBPc.1681A>T (p.Asn561Tyr)
c.1834A>T (p.Asn612Tyr)
c.1738A>T (p.Asn580Tyr)
c.1720A>T (p.Asn574Tyr)
c.1093A>T (p.Asn365Tyr)
c.904A>T (p.Asn302Tyr)
c.1234A>T (p.Asn412Tyr)
6g.107634526A=CA1653938778SOBPc.1682A= (p.Asn561=)
c.1835A= (p.Asn612=)
c.1739A= (p.Asn580=)
c.1721A= (p.Asn574=)
c.1094A= (p.Asn365=)
c.905A= (p.Asn302=)
c.1235A= (p.Asn412=)
6g.107634526A>CCA365170900SOBPc.1682A>C (p.Asn561Thr)
c.1835A>C (p.Asn612Thr)
c.1739A>C (p.Asn580Thr)
c.1721A>C (p.Asn574Thr)
c.1094A>C (p.Asn365Thr)
c.905A>C (p.Asn302Thr)
c.1235A>C (p.Asn412Thr)
6g.107634526A>GCA365170903SOBPc.1682A>G (p.Asn561Ser)
c.1835A>G (p.Asn612Ser)
c.1739A>G (p.Asn580Ser)
c.1721A>G (p.Asn574Ser)
c.1094A>G (p.Asn365Ser)
c.905A>G (p.Asn302Ser)
c.1235A>G (p.Asn412Ser)
6g.107634526A>TCA3946561SOBPc.1682A>T (p.Asn561Ile)
c.1835A>T (p.Asn612Ile)
c.1739A>T (p.Asn580Ile)
c.1721A>T (p.Asn574Ile)
c.1094A>T (p.Asn365Ile)
c.905A>T (p.Asn302Ile)
c.1235A>T (p.Asn412Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.107634527C>ACA365170904SOBPc.1683C>A (p.Asn561Lys)
c.1836C>A (p.Asn612Lys)
c.1740C>A (p.Asn580Lys)
c.1722C>A (p.Asn574Lys)
c.1095C>A (p.Asn365Lys)
c.906C>A (p.Asn302Lys)
c.1236C>A (p.Asn412Lys)
6g.107634527C=CA1653938780SOBPc.1683C= (p.Asn561=)
c.1836C= (p.Asn612=)
c.1740C= (p.Asn580=)
c.1722C= (p.Asn574=)
c.1095C= (p.Asn365=)
c.906C= (p.Asn302=)
c.1236C= (p.Asn412=)
6g.107634527C>GCA365170906SOBPc.1683C>G (p.Asn561Lys)
c.1836C>G (p.Asn612Lys)
c.1740C>G (p.Asn580Lys)
c.1722C>G (p.Asn574Lys)
c.1095C>G (p.Asn365Lys)
c.906C>G (p.Asn302Lys)
c.1236C>G (p.Asn412Lys)
6g.107634527C>TCA145013525SOBPc.1683C>T (p.Asn561=)
c.1836C>T (p.Asn612=)
c.1740C>T (p.Asn580=)
c.1722C>T (p.Asn574=)
c.1095C>T (p.Asn365=)
c.906C>T (p.Asn302=)
c.1236C>T (p.Asn412=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634528T>ACA365170909SOBPc.1684T>A (p.Phe562Ile)
c.1837T>A (p.Phe613Ile)
c.1741T>A (p.Phe581Ile)
c.1723T>A (p.Phe575Ile)
c.1096T>A (p.Phe366Ile)
c.907T>A (p.Phe303Ile)
c.1237T>A (p.Phe413Ile)
6g.107634528T>CCA365170911SOBPc.1684T>C (p.Phe562Leu)
c.1837T>C (p.Phe613Leu)
c.1741T>C (p.Phe581Leu)
c.1723T>C (p.Phe575Leu)
c.1096T>C (p.Phe366Leu)
c.907T>C (p.Phe303Leu)
c.1237T>C (p.Phe413Leu)
gnomAD v4
6g.107634528T>GCA365170913SOBPc.1684T>G (p.Phe562Val)
c.1837T>G (p.Phe613Val)
c.1741T>G (p.Phe581Val)
c.1723T>G (p.Phe575Val)
c.1096T>G (p.Phe366Val)
c.907T>G (p.Phe303Val)
c.1237T>G (p.Phe413Val)
gnomAD v4
6g.107634529T>ACA365170916SOBPc.1685T>A (p.Phe562Tyr)
c.1838T>A (p.Phe613Tyr)
c.1742T>A (p.Phe581Tyr)
c.1724T>A (p.Phe575Tyr)
c.1097T>A (p.Phe366Tyr)
c.908T>A (p.Phe303Tyr)
c.1238T>A (p.Phe413Tyr)
6g.107634529T>CCA145013529SOBPc.1685T>C (p.Phe562Ser)
c.1838T>C (p.Phe613Ser)
c.1742T>C (p.Phe581Ser)
c.1724T>C (p.Phe575Ser)
c.1097T>C (p.Phe366Ser)
c.908T>C (p.Phe303Ser)
c.1238T>C (p.Phe413Ser)
dbSNP
6g.107634529T>GCA365170919SOBPc.1685T>G (p.Phe562Cys)
c.1838T>G (p.Phe613Cys)
c.1742T>G (p.Phe581Cys)
c.1724T>G (p.Phe575Cys)
c.1097T>G (p.Phe366Cys)
c.908T>G (p.Phe303Cys)
c.1238T>G (p.Phe413Cys)
6g.107634529T=CA1653938782SOBPc.1685T= (p.Phe562=)
c.1838T= (p.Phe613=)
c.1742T= (p.Phe581=)
c.1724T= (p.Phe575=)
c.1097T= (p.Phe366=)
c.908T= (p.Phe303=)
c.1238T= (p.Phe413=)
6g.107634530C>ACA365170924SOBPc.1686C>A (p.Phe562Leu)
c.1839C>A (p.Phe613Leu)
c.1743C>A (p.Phe581Leu)
c.1725C>A (p.Phe575Leu)
c.1098C>A (p.Phe366Leu)
c.909C>A (p.Phe303Leu)
c.1239C>A (p.Phe413Leu)
gnomAD v4
6g.107634530C>GCA365170926SOBPc.1686C>G (p.Phe562Leu)
c.1839C>G (p.Phe613Leu)
c.1743C>G (p.Phe581Leu)
c.1725C>G (p.Phe575Leu)
c.1098C>G (p.Phe366Leu)
c.909C>G (p.Phe303Leu)
c.1239C>G (p.Phe413Leu)
6g.107634530C>TCA451581779SOBPc.1686C>T (p.Phe562=)
c.1839C>T (p.Phe613=)
c.1743C>T (p.Phe581=)
c.1725C>T (p.Phe575=)
c.1098C>T (p.Phe366=)
c.909C>T (p.Phe303=)
c.1239C>T (p.Phe413=)
gnomAD v4
6g.107634531A>CCA365170929SOBPc.1687A>C (p.Ile563Leu)
c.1840A>C (p.Ile614Leu)
c.1744A>C (p.Ile582Leu)
c.1726A>C (p.Ile576Leu)
c.1099A>C (p.Ile367Leu)
c.910A>C (p.Ile304Leu)
c.1240A>C (p.Ile414Leu)
6g.107634531A>GCA365170931SOBPc.1687A>G (p.Ile563Val)
c.1840A>G (p.Ile614Val)
c.1744A>G (p.Ile582Val)
c.1726A>G (p.Ile576Val)
c.1099A>G (p.Ile367Val)
c.910A>G (p.Ile304Val)
c.1240A>G (p.Ile414Val)
6g.107634531A>TCA365170933SOBPc.1687A>T (p.Ile563Phe)
c.1840A>T (p.Ile614Phe)
c.1744A>T (p.Ile582Phe)
c.1726A>T (p.Ile576Phe)
c.1099A>T (p.Ile367Phe)
c.910A>T (p.Ile304Phe)
c.1240A>T (p.Ile414Phe)
6g.107634532T>ACA365170936SOBPc.1688T>A (p.Ile563Asn)
c.1841T>A (p.Ile614Asn)
c.1745T>A (p.Ile582Asn)
c.1727T>A (p.Ile576Asn)
c.1100T>A (p.Ile367Asn)
c.911T>A (p.Ile304Asn)
c.1241T>A (p.Ile414Asn)
6g.107634532T>CCA3946562SOBPc.1688T>C (p.Ile563Thr)
c.1841T>C (p.Ile614Thr)
c.1745T>C (p.Ile582Thr)
c.1727T>C (p.Ile576Thr)
c.1100T>C (p.Ile367Thr)
c.911T>C (p.Ile304Thr)
c.1241T>C (p.Ile414Thr)
dbSNP ExAC gnomAD v2
6g.107634532T>GCA365170939SOBPc.1688T>G (p.Ile563Ser)
c.1841T>G (p.Ile614Ser)
c.1745T>G (p.Ile582Ser)
c.1727T>G (p.Ile576Ser)
c.1100T>G (p.Ile367Ser)
c.911T>G (p.Ile304Ser)
c.1241T>G (p.Ile414Ser)
6g.107634532T=CA1653938787SOBPc.1688T= (p.Ile563=)
c.1841T= (p.Ile614=)
c.1745T= (p.Ile582=)
c.1727T= (p.Ile576=)
c.1100T= (p.Ile367=)
c.911T= (p.Ile304=)
c.1241T= (p.Ile414=)
6g.107634533T>ACA451581789SOBPc.1689T>A (p.Ile563=)
c.1842T>A (p.Ile614=)
c.1746T>A (p.Ile582=)
c.1728T>A (p.Ile576=)
c.1101T>A (p.Ile367=)
c.912T>A (p.Ile304=)
c.1242T>A (p.Ile414=)
6g.107634533T>CCA451581790SOBPc.1689T>C (p.Ile563=)
c.1842T>C (p.Ile614=)
c.1746T>C (p.Ile582=)
c.1728T>C (p.Ile576=)
c.1101T>C (p.Ile367=)
c.912T>C (p.Ile304=)
c.1242T>C (p.Ile414=)
6g.107634533T>GCA365170942SOBPc.1689T>G (p.Ile563Met)
c.1842T>G (p.Ile614Met)
c.1746T>G (p.Ile582Met)
c.1728T>G (p.Ile576Met)
c.1101T>G (p.Ile367Met)
c.912T>G (p.Ile304Met)
c.1242T>G (p.Ile414Met)
6g.107634534C>ACA365170945SOBPc.1690C>A (p.Pro564Thr)
c.1843C>A (p.Pro615Thr)
c.1747C>A (p.Pro583Thr)
c.1729C>A (p.Pro577Thr)
c.1102C>A (p.Pro368Thr)
c.913C>A (p.Pro305Thr)
c.1243C>A (p.Pro415Thr)
gnomAD v4
6g.107634534C>GCA365170947SOBPc.1690C>G (p.Pro564Ala)
c.1843C>G (p.Pro615Ala)
c.1747C>G (p.Pro583Ala)
c.1729C>G (p.Pro577Ala)
c.1102C>G (p.Pro368Ala)
c.913C>G (p.Pro305Ala)
c.1243C>G (p.Pro415Ala)
6g.107634534C>TCA365170949SOBPc.1690C>T (p.Pro564Ser)
c.1843C>T (p.Pro615Ser)
c.1747C>T (p.Pro583Ser)
c.1729C>T (p.Pro577Ser)
c.1102C>T (p.Pro368Ser)
c.913C>T (p.Pro305Ser)
c.1243C>T (p.Pro415Ser)
gnomAD v4
6g.107634535C>ACA365170952SOBPc.1691C>A (p.Pro564Gln)
c.1844C>A (p.Pro615Gln)
c.1748C>A (p.Pro583Gln)
c.1730C>A (p.Pro577Gln)
c.1103C>A (p.Pro368Gln)
c.914C>A (p.Pro305Gln)
c.1244C>A (p.Pro415Gln)
6g.107634535C>GCA365170956SOBPc.1691C>G (p.Pro564Arg)
c.1844C>G (p.Pro615Arg)
c.1748C>G (p.Pro583Arg)
c.1730C>G (p.Pro577Arg)
c.1103C>G (p.Pro368Arg)
c.914C>G (p.Pro305Arg)
c.1244C>G (p.Pro415Arg)
ClinVar gnomAD v4
6g.107634535C>TCA365170954SOBPc.1691C>T (p.Pro564Leu)
c.1844C>T (p.Pro615Leu)
c.1748C>T (p.Pro583Leu)
c.1730C>T (p.Pro577Leu)
c.1103C>T (p.Pro368Leu)
c.914C>T (p.Pro305Leu)
c.1244C>T (p.Pro415Leu)
gnomAD v4
6g.107634536G>ACA451581795SOBPc.1692G>A (p.Pro564=)
c.1845G>A (p.Pro615=)
c.1749G>A (p.Pro583=)
c.1731G>A (p.Pro577=)
c.1104G>A (p.Pro368=)
c.915G>A (p.Pro305=)
c.1245G>A (p.Pro415=)
gnomAD v4
6g.107634536G>CCA451581796SOBPc.1692G>C (p.Pro564=)
c.1845G>C (p.Pro615=)
c.1749G>C (p.Pro583=)
c.1731G>C (p.Pro577=)
c.1104G>C (p.Pro368=)
c.915G>C (p.Pro305=)
c.1245G>C (p.Pro415=)
dbSNP gnomAD v2 gnomAD v4
6g.107634536G=CA1653938789SOBPc.1692G= (p.Pro564=)
c.1845G= (p.Pro615=)
c.1749G= (p.Pro583=)
c.1731G= (p.Pro577=)
c.1104G= (p.Pro368=)
c.915G= (p.Pro305=)
c.1245G= (p.Pro415=)
6g.107634536G>TCA451581797SOBPc.1692G>T (p.Pro564=)
c.1845G>T (p.Pro615=)
c.1749G>T (p.Pro583=)
c.1731G>T (p.Pro577=)
c.1104G>T (p.Pro368=)
c.915G>T (p.Pro305=)
c.1245G>T (p.Pro415=)
gnomAD v4
6g.107634537A>CCA365170958SOBPc.1693A>C (p.Asn565His)
c.1846A>C (p.Asn616His)
c.1750A>C (p.Asn584His)
c.1732A>C (p.Asn578His)
c.1105A>C (p.Asn369His)
c.916A>C (p.Asn306His)
c.1246A>C (p.Asn416His)
6g.107634537A>GCA365170960SOBPc.1693A>G (p.Asn565Asp)
c.1846A>G (p.Asn616Asp)
c.1750A>G (p.Asn584Asp)
c.1732A>G (p.Asn578Asp)
c.1105A>G (p.Asn369Asp)
c.916A>G (p.Asn306Asp)
c.1246A>G (p.Asn416Asp)
6g.107634537A>TCA365170963SOBPc.1693A>T (p.Asn565Tyr)
c.1846A>T (p.Asn616Tyr)
c.1750A>T (p.Asn584Tyr)
c.1732A>T (p.Asn578Tyr)
c.1105A>T (p.Asn369Tyr)
c.916A>T (p.Asn306Tyr)
c.1246A>T (p.Asn416Tyr)
6g.107634537_107634548delCA2712658370SOBPc.1693_1704del (p.Asn565_Gly568del)
c.1846_1857del (p.Asn616_Gly619del)
c.1750_1761del (p.Asn584_Gly587del)
c.1732_1743del (p.Asn578_Gly581del)
c.1105_1116del (p.Asn369_Gly372del)
c.916_927del (p.Asn306_Gly309del)
c.1246_1257del (p.Asn416_Gly419del)
dbSNP
6g.107634538A>CCA365170965SOBPc.1694A>C (p.Asn565Thr)
c.1847A>C (p.Asn616Thr)
c.1751A>C (p.Asn584Thr)
c.1733A>C (p.Asn578Thr)
c.1106A>C (p.Asn369Thr)
c.917A>C (p.Asn306Thr)
c.1247A>C (p.Asn416Thr)
gnomAD v4
6g.107634538A>GCA365170967SOBPc.1694A>G (p.Asn565Ser)
c.1847A>G (p.Asn616Ser)
c.1751A>G (p.Asn584Ser)
c.1733A>G (p.Asn578Ser)
c.1106A>G (p.Asn369Ser)
c.917A>G (p.Asn306Ser)
c.1247A>G (p.Asn416Ser)
6g.107634538A>TCA365170969SOBPc.1694A>T (p.Asn565Ile)
c.1847A>T (p.Asn616Ile)
c.1751A>T (p.Asn584Ile)
c.1733A>T (p.Asn578Ile)
c.1106A>T (p.Asn369Ile)
c.917A>T (p.Asn306Ile)
c.1247A>T (p.Asn416Ile)
6g.107634539C>ACA365170972SOBPc.1695C>A (p.Asn565Lys)
c.1848C>A (p.Asn616Lys)
c.1752C>A (p.Asn584Lys)
c.1734C>A (p.Asn578Lys)
c.1107C>A (p.Asn369Lys)
c.918C>A (p.Asn306Lys)
c.1248C>A (p.Asn416Lys)
dbSNP gnomAD v2
6g.107634539C=CA1653938793SOBPc.1695C= (p.Asn565=)
c.1848C= (p.Asn616=)
c.1752C= (p.Asn584=)
c.1734C= (p.Asn578=)
c.1107C= (p.Asn369=)
c.918C= (p.Asn306=)
c.1248C= (p.Asn416=)
6g.107634539C>GCA365170974SOBPc.1695C>G (p.Asn565Lys)
c.1848C>G (p.Asn616Lys)
c.1752C>G (p.Asn584Lys)
c.1734C>G (p.Asn578Lys)
c.1107C>G (p.Asn369Lys)
c.918C>G (p.Asn306Lys)
c.1248C>G (p.Asn416Lys)
6g.107634539C>TCA451581804SOBPc.1695C>T (p.Asn565=)
c.1848C>T (p.Asn616=)
c.1752C>T (p.Asn584=)
c.1734C>T (p.Asn578=)
c.1107C>T (p.Asn369=)
c.918C>T (p.Asn306=)
c.1248C>T (p.Asn416=)
6g.107634540G>ACA3946563SOBPc.1696G>A (p.Ala566Thr)
c.1849G>A (p.Ala617Thr)
c.1753G>A (p.Ala585Thr)
c.1735G>A (p.Ala579Thr)
c.1108G>A (p.Ala370Thr)
c.919G>A (p.Ala307Thr)
c.1249G>A (p.Ala417Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107634540G>CCA365170975SOBPc.1696G>C (p.Ala566Pro)
c.1849G>C (p.Ala617Pro)
c.1753G>C (p.Ala585Pro)
c.1735G>C (p.Ala579Pro)
c.1108G>C (p.Ala370Pro)
c.919G>C (p.Ala307Pro)
c.1249G>C (p.Ala417Pro)
6g.107634540G=CA1653938796SOBPc.1696G= (p.Ala566=)
c.1849G= (p.Ala617=)
c.1753G= (p.Ala585=)
c.1735G= (p.Ala579=)
c.1108G= (p.Ala370=)
c.919G= (p.Ala307=)
c.1249G= (p.Ala417=)
6g.107634540G>TCA365170976SOBPc.1696G>T (p.Ala566Ser)
c.1849G>T (p.Ala617Ser)
c.1753G>T (p.Ala585Ser)
c.1735G>T (p.Ala579Ser)
c.1108G>T (p.Ala370Ser)
c.919G>T (p.Ala307Ser)
c.1249G>T (p.Ala417Ser)
gnomAD v4
6g.107634541C>ACA365170977SOBPc.1697C>A (p.Ala566Asp)
c.1850C>A (p.Ala617Asp)
c.1754C>A (p.Ala585Asp)
c.1736C>A (p.Ala579Asp)
c.1109C>A (p.Ala370Asp)
c.920C>A (p.Ala307Asp)
c.1250C>A (p.Ala417Asp)
dbSNP gnomAD v4
6g.107634541C=CA1653938801SOBPc.1697C= (p.Ala566=)
c.1850C= (p.Ala617=)
c.1754C= (p.Ala585=)
c.1736C= (p.Ala579=)
c.1109C= (p.Ala370=)
c.920C= (p.Ala307=)
c.1250C= (p.Ala417=)
6g.107634541C>GCA365170978SOBPc.1697C>G (p.Ala566Gly)
c.1850C>G (p.Ala617Gly)
c.1754C>G (p.Ala585Gly)
c.1736C>G (p.Ala579Gly)
c.1109C>G (p.Ala370Gly)
c.920C>G (p.Ala307Gly)
c.1250C>G (p.Ala417Gly)
6g.107634541C>TCA3946564SOBPc.1697C>T (p.Ala566Val)
c.1850C>T (p.Ala617Val)
c.1754C>T (p.Ala585Val)
c.1736C>T (p.Ala579Val)
c.1109C>T (p.Ala370Val)
c.920C>T (p.Ala307Val)
c.1250C>T (p.Ala417Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107634544delCA2679876744SOBPc.1700del (p.Pro567LeufsTer?)
c.1853del (p.Pro618LeufsTer?)
c.1757del (p.Pro586LeufsTer?)
c.1739del (p.Pro580LeufsTer?)
c.1112del (p.Pro371LeufsTer?)
c.923del (p.Pro308LeufsTer?)
c.1253del (p.Pro418LeufsTer?)
gnomAD v4
6g.107634542C>ACA451581808SOBPc.1698C>A (p.Ala566=)
c.1851C>A (p.Ala617=)
c.1755C>A (p.Ala585=)
c.1737C>A (p.Ala579=)
c.1110C>A (p.Ala370=)
c.921C>A (p.Ala307=)
c.1251C>A (p.Ala417=)
6g.107634542C=CA1653938803SOBPc.1698C= (p.Ala566=)
c.1851C= (p.Ala617=)
c.1755C= (p.Ala585=)
c.1737C= (p.Ala579=)
c.1110C= (p.Ala370=)
c.921C= (p.Ala307=)
c.1251C= (p.Ala417=)
6g.107634542C>GCA451581810SOBPc.1698C>G (p.Ala566=)
c.1851C>G (p.Ala617=)
c.1755C>G (p.Ala585=)
c.1737C>G (p.Ala579=)
c.1110C>G (p.Ala370=)
c.921C>G (p.Ala307=)
c.1251C>G (p.Ala417=)
6g.107634542C>TCA3946565SOBPc.1698C>T (p.Ala566=)
c.1851C>T (p.Ala617=)
c.1755C>T (p.Ala585=)
c.1737C>T (p.Ala579=)
c.1110C>T (p.Ala370=)
c.921C>T (p.Ala307=)
c.1251C>T (p.Ala417=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107634543C>ACA365170985SOBPc.1699C>A (p.Pro567Thr)
c.1852C>A (p.Pro618Thr)
c.1756C>A (p.Pro586Thr)
c.1738C>A (p.Pro580Thr)
c.1111C>A (p.Pro371Thr)
c.922C>A (p.Pro308Thr)
c.1252C>A (p.Pro418Thr)
6g.107634543C>GCA365170986SOBPc.1699C>G (p.Pro567Ala)
c.1852C>G (p.Pro618Ala)
c.1756C>G (p.Pro586Ala)
c.1738C>G (p.Pro580Ala)
c.1111C>G (p.Pro371Ala)
c.922C>G (p.Pro308Ala)
c.1252C>G (p.Pro418Ala)
6g.107634543C>TCA365170989SOBPc.1699C>T (p.Pro567Ser)
c.1852C>T (p.Pro618Ser)
c.1756C>T (p.Pro586Ser)
c.1738C>T (p.Pro580Ser)
c.1111C>T (p.Pro371Ser)
c.922C>T (p.Pro308Ser)
c.1252C>T (p.Pro418Ser)
6g.107634544C>ACA365170991SOBPc.1700C>A (p.Pro567His)
c.1853C>A (p.Pro618His)
c.1757C>A (p.Pro586His)
c.1739C>A (p.Pro580His)
c.1112C>A (p.Pro371His)
c.923C>A (p.Pro308His)
c.1253C>A (p.Pro418His)
dbSNP
6g.107634544C=CA1653938806SOBPc.1700C= (p.Pro567=)
c.1853C= (p.Pro618=)
c.1757C= (p.Pro586=)
c.1739C= (p.Pro580=)
c.1112C= (p.Pro371=)
c.923C= (p.Pro308=)
c.1253C= (p.Pro418=)
6g.107634544C>GCA365170992SOBPc.1700C>G (p.Pro567Arg)
c.1853C>G (p.Pro618Arg)
c.1757C>G (p.Pro586Arg)
c.1739C>G (p.Pro580Arg)
c.1112C>G (p.Pro371Arg)
c.923C>G (p.Pro308Arg)
c.1253C>G (p.Pro418Arg)
gnomAD v4
6g.107634544C>TCA365170994SOBPc.1700C>T (p.Pro567Leu)
c.1853C>T (p.Pro618Leu)
c.1757C>T (p.Pro586Leu)
c.1739C>T (p.Pro580Leu)
c.1112C>T (p.Pro371Leu)
c.923C>T (p.Pro308Leu)
c.1253C>T (p.Pro418Leu)
dbSNP gnomAD v3 gnomAD v4
6g.107634545T>ACA451581813SOBPc.1701T>A (p.Pro567=)
c.1854T>A (p.Pro618=)
c.1758T>A (p.Pro586=)
c.1740T>A (p.Pro580=)
c.1113T>A (p.Pro371=)
c.924T>A (p.Pro308=)
c.1254T>A (p.Pro418=)
6g.107634545T>CCA451581814SOBPc.1701T>C (p.Pro567=)
c.1854T>C (p.Pro618=)
c.1758T>C (p.Pro586=)
c.1740T>C (p.Pro580=)
c.1113T>C (p.Pro371=)
c.924T>C (p.Pro308=)
c.1254T>C (p.Pro418=)
6g.107634545T>GCA451581817SOBPc.1701T>G (p.Pro567=)
c.1854T>G (p.Pro618=)
c.1758T>G (p.Pro586=)
c.1740T>G (p.Pro580=)
c.1113T>G (p.Pro371=)
c.924T>G (p.Pro308=)
c.1254T>G (p.Pro418=)
6g.107634546G>ACA365170997SOBPc.1702G>A (p.Gly568Ser)
c.1855G>A (p.Gly619Ser)
c.1759G>A (p.Gly587Ser)
c.1741G>A (p.Gly581Ser)
c.1114G>A (p.Gly372Ser)
c.925G>A (p.Gly309Ser)
c.1255G>A (p.Gly419Ser)
gnomAD v4
6g.107634546G>CCA365171000SOBPc.1702G>C (p.Gly568Arg)
c.1855G>C (p.Gly619Arg)
c.1759G>C (p.Gly587Arg)
c.1741G>C (p.Gly581Arg)
c.1114G>C (p.Gly372Arg)
c.925G>C (p.Gly309Arg)
c.1255G>C (p.Gly419Arg)
6g.107634546G>TCA365171002SOBPc.1702G>T (p.Gly568Cys)
c.1855G>T (p.Gly619Cys)
c.1759G>T (p.Gly587Cys)
c.1741G>T (p.Gly581Cys)
c.1114G>T (p.Gly372Cys)
c.925G>T (p.Gly309Cys)
c.1255G>T (p.Gly419Cys)
6g.107634547G>ACA365171004SOBPc.1703G>A (p.Gly568Asp)
c.1856G>A (p.Gly619Asp)
c.1760G>A (p.Gly587Asp)
c.1742G>A (p.Gly581Asp)
c.1115G>A (p.Gly372Asp)
c.926G>A (p.Gly309Asp)
c.1256G>A (p.Gly419Asp)
gnomAD v4
6g.107634547G>CCA365171006SOBPc.1703G>C (p.Gly568Ala)
c.1856G>C (p.Gly619Ala)
c.1760G>C (p.Gly587Ala)
c.1742G>C (p.Gly581Ala)
c.1115G>C (p.Gly372Ala)
c.926G>C (p.Gly309Ala)
c.1256G>C (p.Gly419Ala)
6g.107634547G>TCA365171009SOBPc.1703G>T (p.Gly568Val)
c.1856G>T (p.Gly619Val)
c.1760G>T (p.Gly587Val)
c.1742G>T (p.Gly581Val)
c.1115G>T (p.Gly372Val)
c.926G>T (p.Gly309Val)
c.1256G>T (p.Gly419Val)
gnomAD v4
6g.107634548C>ACA451581825SOBPc.1704C>A (p.Gly568=)
c.1857C>A (p.Gly619=)
c.1761C>A (p.Gly587=)
c.1743C>A (p.Gly581=)
c.1116C>A (p.Gly372=)
c.927C>A (p.Gly309=)
c.1257C>A (p.Gly419=)
gnomAD v4
6g.107634548C>GCA451581827SOBPc.1704C>G (p.Gly568=)
c.1857C>G (p.Gly619=)
c.1761C>G (p.Gly587=)
c.1743C>G (p.Gly581=)
c.1116C>G (p.Gly372=)
c.927C>G (p.Gly309=)
c.1257C>G (p.Gly419=)
6g.107634548C>TCA451581829SOBPc.1704C>T (p.Gly568=)
c.1857C>T (p.Gly619=)
c.1761C>T (p.Gly587=)
c.1743C>T (p.Gly581=)
c.1116C>T (p.Gly372=)
c.927C>T (p.Gly309=)
c.1257C>T (p.Gly419=)
gnomAD v4
6g.107634549G>ACA365171015SOBPc.1705G>A (p.Asp569Asn)
c.1858G>A (p.Asp620Asn)
c.1762G>A (p.Asp588Asn)
c.1744G>A (p.Asp582Asn)
c.1117G>A (p.Asp373Asn)
c.928G>A (p.Asp310Asn)
c.1258G>A (p.Asp420Asn)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634549G>CCA365171013SOBPc.1705G>C (p.Asp569His)
c.1858G>C (p.Asp620His)
c.1762G>C (p.Asp588His)
c.1744G>C (p.Asp582His)
c.1117G>C (p.Asp373His)
c.928G>C (p.Asp310His)
c.1258G>C (p.Asp420His)
6g.107634549G=CA1653938808SOBPc.1705G= (p.Asp569=)
c.1858G= (p.Asp620=)
c.1762G= (p.Asp588=)
c.1744G= (p.Asp582=)
c.1117G= (p.Asp373=)
c.928G= (p.Asp310=)
c.1258G= (p.Asp420=)
6g.107634549G>TCA365171011SOBPc.1705G>T (p.Asp569Tyr)
c.1858G>T (p.Asp620Tyr)
c.1762G>T (p.Asp588Tyr)
c.1744G>T (p.Asp582Tyr)
c.1117G>T (p.Asp373Tyr)
c.928G>T (p.Asp310Tyr)
c.1258G>T (p.Asp420Tyr)
dbSNP gnomAD v4
6g.107634550A=CA1653938813SOBPc.1706A= (p.Asp569=)
c.1859A= (p.Asp620=)
c.1763A= (p.Asp588=)
c.1745A= (p.Asp582=)
c.1118A= (p.Asp373=)
c.929A= (p.Asp310=)
c.1259A= (p.Asp420=)
6g.107634550A>CCA365171018SOBPc.1706A>C (p.Asp569Ala)
c.1859A>C (p.Asp620Ala)
c.1763A>C (p.Asp588Ala)
c.1745A>C (p.Asp582Ala)
c.1118A>C (p.Asp373Ala)
c.929A>C (p.Asp310Ala)
c.1259A>C (p.Asp420Ala)
gnomAD v4
6g.107634550A>GCA365171022SOBPc.1706A>G (p.Asp569Gly)
c.1859A>G (p.Asp620Gly)
c.1763A>G (p.Asp588Gly)
c.1745A>G (p.Asp582Gly)
c.1118A>G (p.Asp373Gly)
c.929A>G (p.Asp310Gly)
c.1259A>G (p.Asp420Gly)
dbSNP gnomAD v3 gnomAD v4
6g.107634550A>TCA365171020SOBPc.1706A>T (p.Asp569Val)
c.1859A>T (p.Asp620Val)
c.1763A>T (p.Asp588Val)
c.1745A>T (p.Asp582Val)
c.1118A>T (p.Asp373Val)
c.929A>T (p.Asp310Val)
c.1259A>T (p.Asp420Val)
6g.107634551C>ACA365171025SOBPc.1707C>A (p.Asp569Glu)
c.1860C>A (p.Asp620Glu)
c.1764C>A (p.Asp588Glu)
c.1746C>A (p.Asp582Glu)
c.1119C>A (p.Asp373Glu)
c.930C>A (p.Asp310Glu)
c.1260C>A (p.Asp420Glu)
6g.107634551C=CA1653938814SOBPc.1707C= (p.Asp569=)
c.1860C= (p.Asp620=)
c.1764C= (p.Asp588=)
c.1746C= (p.Asp582=)
c.1119C= (p.Asp373=)
c.930C= (p.Asp310=)
c.1260C= (p.Asp420=)
6g.107634551C>GCA365171027SOBPc.1707C>G (p.Asp569Glu)
c.1860C>G (p.Asp620Glu)
c.1764C>G (p.Asp588Glu)
c.1746C>G (p.Asp582Glu)
c.1119C>G (p.Asp373Glu)
c.930C>G (p.Asp310Glu)
c.1260C>G (p.Asp420Glu)
6g.107634551C>TCA451581834SOBPc.1707C>T (p.Asp569=)
c.1860C>T (p.Asp620=)
c.1764C>T (p.Asp588=)
c.1746C>T (p.Asp582=)
c.1119C>T (p.Asp373=)
c.930C>T (p.Asp310=)
c.1260C>T (p.Asp420=)
dbSNP
6g.107634552T>ACA365171030SOBPc.1708T>A (p.Ser570Thr)
c.1861T>A (p.Ser621Thr)
c.1765T>A (p.Ser589Thr)
c.1747T>A (p.Ser583Thr)
c.1120T>A (p.Ser374Thr)
c.931T>A (p.Ser311Thr)
c.1261T>A (p.Ser421Thr)
gnomAD v4
6g.107634552T>CCA365171032SOBPc.1708T>C (p.Ser570Pro)
c.1861T>C (p.Ser621Pro)
c.1765T>C (p.Ser589Pro)
c.1747T>C (p.Ser583Pro)
c.1120T>C (p.Ser374Pro)
c.931T>C (p.Ser311Pro)
c.1261T>C (p.Ser421Pro)
6g.107634552T>GCA3946566SOBPc.1708T>G (p.Ser570Ala)
c.1861T>G (p.Ser621Ala)
c.1765T>G (p.Ser589Ala)
c.1747T>G (p.Ser583Ala)
c.1120T>G (p.Ser374Ala)
c.931T>G (p.Ser311Ala)
c.1261T>G (p.Ser421Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.107634552T=CA1653938817SOBPc.1708T= (p.Ser570=)
c.1861T= (p.Ser621=)
c.1765T= (p.Ser589=)
c.1747T= (p.Ser583=)
c.1120T= (p.Ser374=)
c.931T= (p.Ser311=)
c.1261T= (p.Ser421=)
6g.107634553C>ACA365171035SOBPc.1709C>A (p.Ser570Tyr)
c.1862C>A (p.Ser621Tyr)
c.1766C>A (p.Ser589Tyr)
c.1748C>A (p.Ser583Tyr)
c.1121C>A (p.Ser374Tyr)
c.932C>A (p.Ser311Tyr)
c.1262C>A (p.Ser421Tyr)
6g.107634553C>GCA365171038SOBPc.1709C>G (p.Ser570Cys)
c.1862C>G (p.Ser621Cys)
c.1766C>G (p.Ser589Cys)
c.1748C>G (p.Ser583Cys)
c.1121C>G (p.Ser374Cys)
c.932C>G (p.Ser311Cys)
c.1262C>G (p.Ser421Cys)
6g.107634553C>TCA365171040SOBPc.1709C>T (p.Ser570Phe)
c.1862C>T (p.Ser621Phe)
c.1766C>T (p.Ser589Phe)
c.1748C>T (p.Ser583Phe)
c.1121C>T (p.Ser374Phe)
c.932C>T (p.Ser311Phe)
c.1262C>T (p.Ser421Phe)
6g.107634554C>ACA451581842SOBPc.1710C>A (p.Ser570=)
c.1863C>A (p.Ser621=)
c.1767C>A (p.Ser589=)
c.1749C>A (p.Ser583=)
c.1122C>A (p.Ser374=)
c.933C>A (p.Ser311=)
c.1263C>A (p.Ser421=)
6g.107634554C=CA1653938819SOBPc.1710C= (p.Ser570=)
c.1863C= (p.Ser621=)
c.1767C= (p.Ser589=)
c.1749C= (p.Ser583=)
c.1122C= (p.Ser374=)
c.933C= (p.Ser311=)
c.1263C= (p.Ser421=)
6g.107634554C>GCA451581843SOBPc.1710C>G (p.Ser570=)
c.1863C>G (p.Ser621=)
c.1767C>G (p.Ser589=)
c.1749C>G (p.Ser583=)
c.1122C>G (p.Ser374=)
c.933C>G (p.Ser311=)
c.1263C>G (p.Ser421=)
6g.107634554C>TCA451581844SOBPc.1710C>T (p.Ser570=)
c.1863C>T (p.Ser621=)
c.1767C>T (p.Ser589=)
c.1749C>T (p.Ser583=)
c.1122C>T (p.Ser374=)
c.933C>T (p.Ser311=)
c.1263C>T (p.Ser421=)
dbSNP gnomAD v4
6g.107634555G>ACA3946567SOBPc.1711G>A (p.Ala571Thr)
c.1864G>A (p.Ala622Thr)
c.1768G>A (p.Ala590Thr)
c.1750G>A (p.Ala584Thr)
c.1123G>A (p.Ala375Thr)
c.934G>A (p.Ala312Thr)
c.1264G>A (p.Ala422Thr)
dbSNP ExAC gnomAD v2 COSMIC
6g.107634555G>CCA365171043SOBPc.1711G>C (p.Ala571Pro)
c.1864G>C (p.Ala622Pro)
c.1768G>C (p.Ala590Pro)
c.1750G>C (p.Ala584Pro)
c.1123G>C (p.Ala375Pro)
c.934G>C (p.Ala312Pro)
c.1264G>C (p.Ala422Pro)
6g.107634555G=CA1653938821SOBPc.1711G= (p.Ala571=)
c.1864G= (p.Ala622=)
c.1768G= (p.Ala590=)
c.1750G= (p.Ala584=)
c.1123G= (p.Ala375=)
c.934G= (p.Ala312=)
c.1264G= (p.Ala422=)
6g.107634555G>TCA365171046SOBPc.1711G>T (p.Ala571Ser)
c.1864G>T (p.Ala622Ser)
c.1768G>T (p.Ala590Ser)
c.1750G>T (p.Ala584Ser)
c.1123G>T (p.Ala375Ser)
c.934G>T (p.Ala312Ser)
c.1264G>T (p.Ala422Ser)
gnomAD v4
6g.107634562_107634564dupCA569564367SOBPc.1718_1720dup (p.Ala573_Gly574insAla)
c.1871_1873dup (p.Ala624_Gly625insAla)
c.1775_1777dup (p.Ala592_Gly593insAla)
c.1757_1759dup (p.Ala586_Gly587insAla)
c.1130_1132dup (p.Ala377_Gly378insAla)
c.941_943dup (p.Ala314_Gly315insAla)
c.1271_1273dup (p.Ala424_Gly425insAla)
dbSNP gnomAD v2 gnomAD v4
6g.107634556C>ACA365171049SOBPc.1712C>A (p.Ala571Glu)
c.1865C>A (p.Ala622Glu)
c.1769C>A (p.Ala590Glu)
c.1751C>A (p.Ala584Glu)
c.1124C>A (p.Ala375Glu)
c.935C>A (p.Ala312Glu)
c.1265C>A (p.Ala422Glu)
6g.107634556C=CA1653938824SOBPc.1712C= (p.Ala571=)
c.1865C= (p.Ala622=)
c.1769C= (p.Ala590=)
c.1751C= (p.Ala584=)
c.1124C= (p.Ala375=)
c.935C= (p.Ala312=)
c.1265C= (p.Ala422=)
6g.107634556C>GCA365171051SOBPc.1712C>G (p.Ala571Gly)
c.1865C>G (p.Ala622Gly)
c.1769C>G (p.Ala590Gly)
c.1751C>G (p.Ala584Gly)
c.1124C>G (p.Ala375Gly)
c.935C>G (p.Ala312Gly)
c.1265C>G (p.Ala422Gly)
dbSNP gnomAD v2 gnomAD v4
6g.107634556C>TCA3946568SOBPc.1712C>T (p.Ala571Val)
c.1865C>T (p.Ala622Val)
c.1769C>T (p.Ala590Val)
c.1751C>T (p.Ala584Val)
c.1124C>T (p.Ala375Val)
c.935C>T (p.Ala312Val)
c.1265C>T (p.Ala422Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107634557G>ACA451581849SOBPc.1713G>A (p.Ala571=)
c.1866G>A (p.Ala622=)
c.1770G>A (p.Ala590=)
c.1752G>A (p.Ala584=)
c.1125G>A (p.Ala375=)
c.936G>A (p.Ala312=)
c.1266G>A (p.Ala422=)
gnomAD v4 COSMIC
6g.107634557G>CCA451581850SOBPc.1713G>C (p.Ala571=)
c.1866G>C (p.Ala622=)
c.1770G>C (p.Ala590=)
c.1752G>C (p.Ala584=)
c.1125G>C (p.Ala375=)
c.936G>C (p.Ala312=)
c.1266G>C (p.Ala422=)
6g.107634557G>TCA451581852SOBPc.1713G>T (p.Ala571=)
c.1866G>T (p.Ala622=)
c.1770G>T (p.Ala590=)
c.1752G>T (p.Ala584=)
c.1125G>T (p.Ala375=)
c.936G>T (p.Ala312=)
c.1266G>T (p.Ala422=)
gnomAD v4
6g.107634558G>ACA365171056SOBPc.1714G>A (p.Ala572Thr)
c.1867G>A (p.Ala623Thr)
c.1771G>A (p.Ala591Thr)
c.1753G>A (p.Ala585Thr)
c.1126G>A (p.Ala376Thr)
c.937G>A (p.Ala313Thr)
c.1267G>A (p.Ala423Thr)
gnomAD v4
6g.107634558G>CCA365171058SOBPc.1714G>C (p.Ala572Pro)
c.1867G>C (p.Ala623Pro)
c.1771G>C (p.Ala591Pro)
c.1753G>C (p.Ala585Pro)
c.1126G>C (p.Ala376Pro)
c.937G>C (p.Ala313Pro)
c.1267G>C (p.Ala423Pro)
6g.107634558G>TCA365171060SOBPc.1714G>T (p.Ala572Ser)
c.1867G>T (p.Ala623Ser)
c.1771G>T (p.Ala591Ser)
c.1753G>T (p.Ala585Ser)
c.1126G>T (p.Ala376Ser)
c.937G>T (p.Ala313Ser)
c.1267G>T (p.Ala423Ser)
gnomAD v4
6g.107634559C>ACA365171062SOBPc.1715C>A (p.Ala572Glu)
c.1868C>A (p.Ala623Glu)
c.1772C>A (p.Ala591Glu)
c.1754C>A (p.Ala585Glu)
c.1127C>A (p.Ala376Glu)
c.938C>A (p.Ala313Glu)
c.1268C>A (p.Ala423Glu)
6g.107634559C>GCA365171065SOBPc.1715C>G (p.Ala572Gly)
c.1868C>G (p.Ala623Gly)
c.1772C>G (p.Ala591Gly)
c.1754C>G (p.Ala585Gly)
c.1127C>G (p.Ala376Gly)
c.938C>G (p.Ala313Gly)
c.1268C>G (p.Ala423Gly)
6g.107634559C>TCA365171064SOBPc.1715C>T (p.Ala572Val)
c.1868C>T (p.Ala623Val)
c.1772C>T (p.Ala591Val)
c.1754C>T (p.Ala585Val)
c.1127C>T (p.Ala376Val)
c.938C>T (p.Ala313Val)
c.1268C>T (p.Ala423Val)
gnomAD v4 COSMIC
6g.107634560G>ACA145013555SOBPc.1716G>A (p.Ala572=)
c.1869G>A (p.Ala623=)
c.1773G>A (p.Ala591=)
c.1755G>A (p.Ala585=)
c.1128G>A (p.Ala376=)
c.939G>A (p.Ala313=)
c.1269G>A (p.Ala423=)
dbSNP
6g.107634560G>CCA451581857SOBPc.1716G>C (p.Ala572=)
c.1869G>C (p.Ala623=)
c.1773G>C (p.Ala591=)
c.1755G>C (p.Ala585=)
c.1128G>C (p.Ala376=)
c.939G>C (p.Ala313=)
c.1269G>C (p.Ala423=)
6g.107634560G=CA1653938827SOBPc.1716G= (p.Ala572=)
c.1869G= (p.Ala623=)
c.1773G= (p.Ala591=)
c.1755G= (p.Ala585=)
c.1128G= (p.Ala376=)
c.939G= (p.Ala313=)
c.1269G= (p.Ala423=)
6g.107634560G>TCA451581859SOBPc.1716G>T (p.Ala572=)
c.1869G>T (p.Ala623=)
c.1773G>T (p.Ala591=)
c.1755G>T (p.Ala585=)
c.1128G>T (p.Ala376=)
c.939G>T (p.Ala313=)
c.1269G>T (p.Ala423=)
gnomAD v4
6g.107634561G>ACA365171067SOBPc.1717G>A (p.Ala573Thr)
c.1870G>A (p.Ala624Thr)
c.1774G>A (p.Ala592Thr)
c.1756G>A (p.Ala586Thr)
c.1129G>A (p.Ala377Thr)
c.940G>A (p.Ala314Thr)
c.1270G>A (p.Ala424Thr)
gnomAD v4
6g.107634561G>CCA365171068SOBPc.1717G>C (p.Ala573Pro)
c.1870G>C (p.Ala624Pro)
c.1774G>C (p.Ala592Pro)
c.1756G>C (p.Ala586Pro)
c.1129G>C (p.Ala377Pro)
c.940G>C (p.Ala314Pro)
c.1270G>C (p.Ala424Pro)
6g.107634561G>TCA365171071SOBPc.1717G>T (p.Ala573Ser)
c.1870G>T (p.Ala624Ser)
c.1774G>T (p.Ala592Ser)
c.1756G>T (p.Ala586Ser)
c.1129G>T (p.Ala377Ser)
c.940G>T (p.Ala314Ser)
c.1270G>T (p.Ala424Ser)
gnomAD v4
6g.107634562C>ACA365171074SOBPc.1718C>A (p.Ala573Glu)
c.1871C>A (p.Ala624Glu)
c.1775C>A (p.Ala592Glu)
c.1757C>A (p.Ala586Glu)
c.1130C>A (p.Ala377Glu)
c.941C>A (p.Ala314Glu)
c.1271C>A (p.Ala424Glu)
6g.107634562C=CA1653938832SOBPc.1718C= (p.Ala573=)
c.1871C= (p.Ala624=)
c.1775C= (p.Ala592=)
c.1757C= (p.Ala586=)
c.1130C= (p.Ala377=)
c.941C= (p.Ala314=)
c.1271C= (p.Ala424=)
6g.107634562C>GCA365171076SOBPc.1718C>G (p.Ala573Gly)
c.1871C>G (p.Ala624Gly)
c.1775C>G (p.Ala592Gly)
c.1757C>G (p.Ala586Gly)
c.1130C>G (p.Ala377Gly)
c.941C>G (p.Ala314Gly)
c.1271C>G (p.Ala424Gly)
6g.107634562C>TCA145013559SOBPc.1718C>T (p.Ala573Val)
c.1871C>T (p.Ala624Val)
c.1775C>T (p.Ala592Val)
c.1757C>T (p.Ala586Val)
c.1130C>T (p.Ala377Val)
c.941C>T (p.Ala314Val)
c.1271C>T (p.Ala424Val)
dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched