Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.107634652G>ACA145013730SOBPc.1808G>A (p.Gly603Asp)
c.1961G>A (p.Gly654Asp)
c.1865G>A (p.Gly622Asp)
c.1847G>A (p.Gly616Asp)
c.1220G>A (p.Gly407Asp)
c.1031G>A (p.Gly344Asp)
c.1361G>A (p.Gly454Asp)
 dbSNP gnomAD v4
6g.107634652G>CCA365171332SOBPc.1808G>C (p.Gly603Ala)
c.1961G>C (p.Gly654Ala)
c.1865G>C (p.Gly622Ala)
c.1847G>C (p.Gly616Ala)
c.1220G>C (p.Gly407Ala)
c.1031G>C (p.Gly344Ala)
c.1361G>C (p.Gly454Ala)
6g.107634652G=CA1653939031SOBPc.1808G= (p.Gly603=)
c.1961G= (p.Gly654=)
c.1865G= (p.Gly622=)
c.1847G= (p.Gly616=)
c.1220G= (p.Gly407=)
c.1031G= (p.Gly344=)
c.1361G= (p.Gly454=)
6g.107634652G>TCA365171333SOBPc.1808G>T (p.Gly603Val)
c.1961G>T (p.Gly654Val)
c.1865G>T (p.Gly622Val)
c.1847G>T (p.Gly616Val)
c.1220G>T (p.Gly407Val)
c.1031G>T (p.Gly344Val)
c.1361G>T (p.Gly454Val)
 gnomAD v4
6g.107634653C>ACA451581376SOBPc.1809C>A (p.Gly603=)
c.1962C>A (p.Gly654=)
c.1866C>A (p.Gly622=)
c.1848C>A (p.Gly616=)
c.1221C>A (p.Gly407=)
c.1032C>A (p.Gly344=)
c.1362C>A (p.Gly454=)
 gnomAD v4
6g.107634653C=CA1653939033SOBPc.1809C= (p.Gly603=)
c.1962C= (p.Gly654=)
c.1866C= (p.Gly622=)
c.1848C= (p.Gly616=)
c.1221C= (p.Gly407=)
c.1032C= (p.Gly344=)
c.1362C= (p.Gly454=)
6g.107634653C>GCA451581377SOBPc.1809C>G (p.Gly603=)
c.1962C>G (p.Gly654=)
c.1866C>G (p.Gly622=)
c.1848C>G (p.Gly616=)
c.1221C>G (p.Gly407=)
c.1032C>G (p.Gly344=)
c.1362C>G (p.Gly454=)
6g.107634653C>TCA451581381SOBPc.1809C>T (p.Gly603=)
c.1962C>T (p.Gly654=)
c.1866C>T (p.Gly622=)
c.1848C>T (p.Gly616=)
c.1221C>T (p.Gly407=)
c.1032C>T (p.Gly344=)
c.1362C>T (p.Gly454=)
 dbSNP
6g.107634654C>ACA231522SOBPc.1810C>A (p.Gln604Lys)
c.1963C>A (p.Gln655Lys)
c.1867C>A (p.Gln623Lys)
c.1849C>A (p.Gln617Lys)
c.1222C>A (p.Gln408Lys)
c.1033C>A (p.Gln345Lys)
c.1363C>A (p.Gln455Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107634654C=CA1653939039SOBPc.1810C= (p.Gln604=)
c.1963C= (p.Gln655=)
c.1867C= (p.Gln623=)
c.1849C= (p.Gln617=)
c.1222C= (p.Gln408=)
c.1033C= (p.Gln345=)
c.1363C= (p.Gln455=)
6g.107634654C>GCA365171334SOBPc.1810C>G (p.Gln604Glu)
c.1963C>G (p.Gln655Glu)
c.1867C>G (p.Gln623Glu)
c.1849C>G (p.Gln617Glu)
c.1222C>G (p.Gln408Glu)
c.1033C>G (p.Gln345Glu)
c.1363C>G (p.Gln455Glu)
6g.107634654C>TCA365171335SOBPc.1810C>T (p.Gln604Ter)
c.1963C>T (p.Gln655Ter)
c.1867C>T (p.Gln623Ter)
c.1849C>T (p.Gln617Ter)
c.1222C>T (p.Gln408Ter)
c.1033C>T (p.Gln345Ter)
c.1363C>T (p.Gln455Ter)
6g.107634655A>CCA365171336SOBPc.1811A>C (p.Gln604Pro)
c.1964A>C (p.Gln655Pro)
c.1868A>C (p.Gln623Pro)
c.1850A>C (p.Gln617Pro)
c.1223A>C (p.Gln408Pro)
c.1034A>C (p.Gln345Pro)
c.1364A>C (p.Gln455Pro)
6g.107634655A>GCA365171337SOBPc.1811A>G (p.Gln604Arg)
c.1964A>G (p.Gln655Arg)
c.1868A>G (p.Gln623Arg)
c.1850A>G (p.Gln617Arg)
c.1223A>G (p.Gln408Arg)
c.1034A>G (p.Gln345Arg)
c.1364A>G (p.Gln455Arg)
6g.107634655A>TCA365171338SOBPc.1811A>T (p.Gln604Leu)
c.1964A>T (p.Gln655Leu)
c.1868A>T (p.Gln623Leu)
c.1850A>T (p.Gln617Leu)
c.1223A>T (p.Gln408Leu)
c.1034A>T (p.Gln345Leu)
c.1364A>T (p.Gln455Leu)
6g.107634656G>ACA451581411SOBPc.1812G>A (p.Gln604=)
c.1965G>A (p.Gln655=)
c.1869G>A (p.Gln623=)
c.1851G>A (p.Gln617=)
c.1224G>A (p.Gln408=)
c.1035G>A (p.Gln345=)
c.1365G>A (p.Gln455=)
6g.107634656G>CCA365171339SOBPc.1812G>C (p.Gln604His)
c.1965G>C (p.Gln655His)
c.1869G>C (p.Gln623His)
c.1851G>C (p.Gln617His)
c.1224G>C (p.Gln408His)
c.1035G>C (p.Gln345His)
c.1365G>C (p.Gln455His)
6g.107634656G>TCA365171340SOBPc.1812G>T (p.Gln604His)
c.1965G>T (p.Gln655His)
c.1869G>T (p.Gln623His)
c.1851G>T (p.Gln617His)
c.1224G>T (p.Gln408His)
c.1035G>T (p.Gln345His)
c.1365G>T (p.Gln455His)
6g.107634657G>ACA3946594SOBPc.1813G>A (p.Ala605Thr)
c.1966G>A (p.Ala656Thr)
c.1870G>A (p.Ala624Thr)
c.1852G>A (p.Ala618Thr)
c.1225G>A (p.Ala409Thr)
c.1036G>A (p.Ala346Thr)
c.1366G>A (p.Ala456Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.107634657G>CCA365171341SOBPc.1813G>C (p.Ala605Pro)
c.1966G>C (p.Ala656Pro)
c.1870G>C (p.Ala624Pro)
c.1852G>C (p.Ala618Pro)
c.1225G>C (p.Ala409Pro)
c.1036G>C (p.Ala346Pro)
c.1366G>C (p.Ala456Pro)
 gnomAD v4
6g.107634657G=CA1653939047SOBPc.1813G= (p.Ala605=)
c.1966G= (p.Ala656=)
c.1870G= (p.Ala624=)
c.1852G= (p.Ala618=)
c.1225G= (p.Ala409=)
c.1036G= (p.Ala346=)
c.1366G= (p.Ala456=)
6g.107634657G>TCA3946595SOBPc.1813G>T (p.Ala605Ser)
c.1966G>T (p.Ala656Ser)
c.1870G>T (p.Ala624Ser)
c.1852G>T (p.Ala618Ser)
c.1225G>T (p.Ala409Ser)
c.1036G>T (p.Ala346Ser)
c.1366G>T (p.Ala456Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.107634661_107634680dupCA2679876747SOBPc.1817_1836dup (p.Ala613Ter)
c.1970_1989dup (p.Ala664Ter)
c.1874_1893dup (p.Ala632Ter)
c.1856_1875dup (p.Ala626Ter)
c.1229_1248dup (p.Ala417Ter)
c.1040_1059dup (p.Ala354Ter)
c.1370_1389dup (p.Ala464Ter)
 gnomAD v4
6g.107634660_107634683delCA2679876746SOBPc.1816_1839del (p.Leu606_Ala613del)
c.1969_1992del (p.Leu657_Ala664del)
c.1873_1896del (p.Leu625_Ala632del)
c.1855_1878del (p.Leu619_Ala626del)
c.1228_1251del (p.Leu410_Ala417del)
c.1039_1062del (p.Leu347_Ala354del)
c.1369_1392del (p.Leu457_Ala464del)
 gnomAD v4
6g.107634658C>ACA365171342SOBPc.1814C>A (p.Ala605Asp)
c.1967C>A (p.Ala656Asp)
c.1871C>A (p.Ala624Asp)
c.1853C>A (p.Ala618Asp)
c.1226C>A (p.Ala409Asp)
c.1037C>A (p.Ala346Asp)
c.1367C>A (p.Ala456Asp)
6g.107634658C>GCA365171343SOBPc.1814C>G (p.Ala605Gly)
c.1967C>G (p.Ala656Gly)
c.1871C>G (p.Ala624Gly)
c.1853C>G (p.Ala618Gly)
c.1226C>G (p.Ala409Gly)
c.1037C>G (p.Ala346Gly)
c.1367C>G (p.Ala456Gly)
6g.107634658C>TCA365171344SOBPc.1814C>T (p.Ala605Val)
c.1967C>T (p.Ala656Val)
c.1871C>T (p.Ala624Val)
c.1853C>T (p.Ala618Val)
c.1226C>T (p.Ala409Val)
c.1037C>T (p.Ala346Val)
c.1367C>T (p.Ala456Val)
6g.107634659C>ACA451581428SOBPc.1815C>A (p.Ala605=)
c.1968C>A (p.Ala656=)
c.1872C>A (p.Ala624=)
c.1854C>A (p.Ala618=)
c.1227C>A (p.Ala409=)
c.1038C>A (p.Ala346=)
c.1368C>A (p.Ala456=)
6g.107634659C>GCA451581431SOBPc.1815C>G (p.Ala605=)
c.1968C>G (p.Ala656=)
c.1872C>G (p.Ala624=)
c.1854C>G (p.Ala618=)
c.1227C>G (p.Ala409=)
c.1038C>G (p.Ala346=)
c.1368C>G (p.Ala456=)
 gnomAD v4
6g.107634659C>TCA451581438SOBPc.1815C>T (p.Ala605=)
c.1968C>T (p.Ala656=)
c.1872C>T (p.Ala624=)
c.1854C>T (p.Ala618=)
c.1227C>T (p.Ala409=)
c.1038C>T (p.Ala346=)
c.1368C>T (p.Ala456=)
6g.107634660C>ACA365171345SOBPc.1816C>A (p.Leu606Met)
c.1969C>A (p.Leu657Met)
c.1873C>A (p.Leu625Met)
c.1855C>A (p.Leu619Met)
c.1228C>A (p.Leu410Met)
c.1039C>A (p.Leu347Met)
c.1369C>A (p.Leu457Met)
6g.107634660C=CA1653939050SOBPc.1816C= (p.Leu606=)
c.1969C= (p.Leu657=)
c.1873C= (p.Leu625=)
c.1855C= (p.Leu619=)
c.1228C= (p.Leu410=)
c.1039C= (p.Leu347=)
c.1369C= (p.Leu457=)
6g.107634660C>GCA365171346SOBPc.1816C>G (p.Leu606Val)
c.1969C>G (p.Leu657Val)
c.1873C>G (p.Leu625Val)
c.1855C>G (p.Leu619Val)
c.1228C>G (p.Leu410Val)
c.1039C>G (p.Leu347Val)
c.1369C>G (p.Leu457Val)
 dbSNP gnomAD v3 gnomAD v4
6g.107634660C>TCA451581440SOBPc.1816C>T (p.Leu606=)
c.1969C>T (p.Leu657=)
c.1873C>T (p.Leu625=)
c.1855C>T (p.Leu619=)
c.1228C>T (p.Leu410=)
c.1039C>T (p.Leu347=)
c.1369C>T (p.Leu457=)
 dbSNP gnomAD v4
6g.107634661T>ACA3946596SOBPc.1817T>A (p.Leu606Gln)
c.1970T>A (p.Leu657Gln)
c.1874T>A (p.Leu625Gln)
c.1856T>A (p.Leu619Gln)
c.1229T>A (p.Leu410Gln)
c.1040T>A (p.Leu347Gln)
c.1370T>A (p.Leu457Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107634661T>CCA365171348SOBPc.1817T>C (p.Leu606Pro)
c.1970T>C (p.Leu657Pro)
c.1874T>C (p.Leu625Pro)
c.1856T>C (p.Leu619Pro)
c.1229T>C (p.Leu410Pro)
c.1040T>C (p.Leu347Pro)
c.1370T>C (p.Leu457Pro)
 gnomAD v4
6g.107634661T>GCA365171347SOBPc.1817T>G (p.Leu606Arg)
c.1970T>G (p.Leu657Arg)
c.1874T>G (p.Leu625Arg)
c.1856T>G (p.Leu619Arg)
c.1229T>G (p.Leu410Arg)
c.1040T>G (p.Leu347Arg)
c.1370T>G (p.Leu457Arg)
 dbSNP
6g.107634661T=CA1653939052SOBPc.1817T= (p.Leu606=)
c.1970T= (p.Leu657=)
c.1874T= (p.Leu625=)
c.1856T= (p.Leu619=)
c.1229T= (p.Leu410=)
c.1040T= (p.Leu347=)
c.1370T= (p.Leu457=)
6g.107634662G>ACA3946597SOBPc.1818G>A (p.Leu606=)
c.1971G>A (p.Leu657=)
c.1875G>A (p.Leu625=)
c.1857G>A (p.Leu619=)
c.1230G>A (p.Leu410=)
c.1041G>A (p.Leu347=)
c.1371G>A (p.Leu457=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.107634662G>CCA451581443SOBPc.1818G>C (p.Leu606=)
c.1971G>C (p.Leu657=)
c.1875G>C (p.Leu625=)
c.1857G>C (p.Leu619=)
c.1230G>C (p.Leu410=)
c.1041G>C (p.Leu347=)
c.1371G>C (p.Leu457=)
 gnomAD v4
6g.107634662G=CA1653939055SOBPc.1818G= (p.Leu606=)
c.1971G= (p.Leu657=)
c.1875G= (p.Leu625=)
c.1857G= (p.Leu619=)
c.1230G= (p.Leu410=)
c.1041G= (p.Leu347=)
c.1371G= (p.Leu457=)
6g.107634662G>TCA451581444SOBPc.1818G>T (p.Leu606=)
c.1971G>T (p.Leu657=)
c.1875G>T (p.Leu625=)
c.1857G>T (p.Leu619=)
c.1230G>T (p.Leu410=)
c.1041G>T (p.Leu347=)
c.1371G>T (p.Leu457=)
 dbSNP gnomAD v4
6g.107634663A=CA1653939058SOBPc.1819A= (p.Ser607=)
c.1972A= (p.Ser658=)
c.1876A= (p.Ser626=)
c.1858A= (p.Ser620=)
c.1231A= (p.Ser411=)
c.1042A= (p.Ser348=)
c.1372A= (p.Ser458=)
6g.107634663A>CCA365171349SOBPc.1819A>C (p.Ser607Arg)
c.1972A>C (p.Ser658Arg)
c.1876A>C (p.Ser626Arg)
c.1858A>C (p.Ser620Arg)
c.1231A>C (p.Ser411Arg)
c.1042A>C (p.Ser348Arg)
c.1372A>C (p.Ser458Arg)
6g.107634663A>GCA365171351SOBPc.1819A>G (p.Ser607Gly)
c.1972A>G (p.Ser658Gly)
c.1876A>G (p.Ser626Gly)
c.1858A>G (p.Ser620Gly)
c.1231A>G (p.Ser411Gly)
c.1042A>G (p.Ser348Gly)
c.1372A>G (p.Ser458Gly)
 dbSNP gnomAD v4
6g.107634663A>TCA365171350SOBPc.1819A>T (p.Ser607Cys)
c.1972A>T (p.Ser658Cys)
c.1876A>T (p.Ser626Cys)
c.1858A>T (p.Ser620Cys)
c.1231A>T (p.Ser411Cys)
c.1042A>T (p.Ser348Cys)
c.1372A>T (p.Ser458Cys)
6g.107634664G>ACA365171352SOBPc.1820G>A (p.Ser607Asn)
c.1973G>A (p.Ser658Asn)
c.1877G>A (p.Ser626Asn)
c.1859G>A (p.Ser620Asn)
c.1232G>A (p.Ser411Asn)
c.1043G>A (p.Ser348Asn)
c.1373G>A (p.Ser458Asn)
 dbSNP gnomAD v2 gnomAD v4
6g.107634664G>CCA365171353SOBPc.1820G>C (p.Ser607Thr)
c.1973G>C (p.Ser658Thr)
c.1877G>C (p.Ser626Thr)
c.1859G>C (p.Ser620Thr)
c.1232G>C (p.Ser411Thr)
c.1043G>C (p.Ser348Thr)
c.1373G>C (p.Ser458Thr)
6g.107634664G=CA1653939061SOBPc.1820G= (p.Ser607=)
c.1973G= (p.Ser658=)
c.1877G= (p.Ser626=)
c.1859G= (p.Ser620=)
c.1232G= (p.Ser411=)
c.1043G= (p.Ser348=)
c.1373G= (p.Ser458=)
6g.107634664G>TCA145013774SOBPc.1820G>T (p.Ser607Ile)
c.1973G>T (p.Ser658Ile)
c.1877G>T (p.Ser626Ile)
c.1859G>T (p.Ser620Ile)
c.1232G>T (p.Ser411Ile)
c.1043G>T (p.Ser348Ile)
c.1373G>T (p.Ser458Ile)
 dbSNP gnomAD v4
6g.107634665C>ACA365171354SOBPc.1821C>A (p.Ser607Arg)
c.1974C>A (p.Ser658Arg)
c.1878C>A (p.Ser626Arg)
c.1860C>A (p.Ser620Arg)
c.1233C>A (p.Ser411Arg)
c.1044C>A (p.Ser348Arg)
c.1374C>A (p.Ser458Arg)
 gnomAD v4
6g.107634665C>GCA365171355SOBPc.1821C>G (p.Ser607Arg)
c.1974C>G (p.Ser658Arg)
c.1878C>G (p.Ser626Arg)
c.1860C>G (p.Ser620Arg)
c.1233C>G (p.Ser411Arg)
c.1044C>G (p.Ser348Arg)
c.1374C>G (p.Ser458Arg)
6g.107634665C>TCA451581455SOBPc.1821C>T (p.Ser607=)
c.1974C>T (p.Ser658=)
c.1878C>T (p.Ser626=)
c.1860C>T (p.Ser620=)
c.1233C>T (p.Ser411=)
c.1044C>T (p.Ser348=)
c.1374C>T (p.Ser458=)
 dbSNP gnomAD v4 COSMIC
6g.107634666C>ACA365171356SOBPc.1822C>A (p.Leu608Met)
c.1975C>A (p.Leu659Met)
c.1879C>A (p.Leu627Met)
c.1861C>A (p.Leu621Met)
c.1234C>A (p.Leu412Met)
c.1045C>A (p.Leu349Met)
c.1375C>A (p.Leu459Met)
6g.107634666C>GCA365171357SOBPc.1822C>G (p.Leu608Val)
c.1975C>G (p.Leu659Val)
c.1879C>G (p.Leu627Val)
c.1861C>G (p.Leu621Val)
c.1234C>G (p.Leu412Val)
c.1045C>G (p.Leu349Val)
c.1375C>G (p.Leu459Val)
6g.107634666C>TCA451581458SOBPc.1822C>T (p.Leu608=)
c.1975C>T (p.Leu659=)
c.1879C>T (p.Leu627=)
c.1861C>T (p.Leu621=)
c.1234C>T (p.Leu412=)
c.1045C>T (p.Leu349=)
c.1375C>T (p.Leu459=)
 dbSNP gnomAD v4
6g.107634667T>ACA365171358SOBPc.1823T>A (p.Leu608Gln)
c.1976T>A (p.Leu659Gln)
c.1880T>A (p.Leu627Gln)
c.1862T>A (p.Leu621Gln)
c.1235T>A (p.Leu412Gln)
c.1046T>A (p.Leu349Gln)
c.1376T>A (p.Leu459Gln)
6g.107634667T>CCA365171359SOBPc.1823T>C (p.Leu608Pro)
c.1976T>C (p.Leu659Pro)
c.1880T>C (p.Leu627Pro)
c.1862T>C (p.Leu621Pro)
c.1235T>C (p.Leu412Pro)
c.1046T>C (p.Leu349Pro)
c.1376T>C (p.Leu459Pro)
 gnomAD v4
6g.107634667T>GCA365171360SOBPc.1823T>G (p.Leu608Arg)
c.1976T>G (p.Leu659Arg)
c.1880T>G (p.Leu627Arg)
c.1862T>G (p.Leu621Arg)
c.1235T>G (p.Leu412Arg)
c.1046T>G (p.Leu349Arg)
c.1376T>G (p.Leu459Arg)
6g.107634668G>ACA451581463SOBPc.1824G>A (p.Leu608=)
c.1977G>A (p.Leu659=)
c.1881G>A (p.Leu627=)
c.1863G>A (p.Leu621=)
c.1236G>A (p.Leu412=)
c.1047G>A (p.Leu349=)
c.1377G>A (p.Leu459=)
6g.107634668G>CCA451581464SOBPc.1824G>C (p.Leu608=)
c.1977G>C (p.Leu659=)
c.1881G>C (p.Leu627=)
c.1863G>C (p.Leu621=)
c.1236G>C (p.Leu412=)
c.1047G>C (p.Leu349=)
c.1377G>C (p.Leu459=)
6g.107634668G>TCA451581465SOBPc.1824G>T (p.Leu608=)
c.1977G>T (p.Leu659=)
c.1881G>T (p.Leu627=)
c.1863G>T (p.Leu621=)
c.1236G>T (p.Leu412=)
c.1047G>T (p.Leu349=)
c.1377G>T (p.Leu459=)
 dbSNP
6g.107634669G>ACA365171361SOBPc.1825G>A (p.Ala609Thr)
c.1978G>A (p.Ala660Thr)
c.1882G>A (p.Ala628Thr)
c.1864G>A (p.Ala622Thr)
c.1237G>A (p.Ala413Thr)
c.1048G>A (p.Ala350Thr)
c.1378G>A (p.Ala460Thr)
 dbSNP
6g.107634669G>CCA365171362SOBPc.1825G>C (p.Ala609Pro)
c.1978G>C (p.Ala660Pro)
c.1882G>C (p.Ala628Pro)
c.1864G>C (p.Ala622Pro)
c.1237G>C (p.Ala413Pro)
c.1048G>C (p.Ala350Pro)
c.1378G>C (p.Ala460Pro)
6g.107634669G=CA1653939063SOBPc.1825G= (p.Ala609=)
c.1978G= (p.Ala660=)
c.1882G= (p.Ala628=)
c.1864G= (p.Ala622=)
c.1237G= (p.Ala413=)
c.1048G= (p.Ala350=)
c.1378G= (p.Ala460=)
6g.107634669G>TCA365171363SOBPc.1825G>T (p.Ala609Ser)
c.1978G>T (p.Ala660Ser)
c.1882G>T (p.Ala628Ser)
c.1864G>T (p.Ala622Ser)
c.1237G>T (p.Ala413Ser)
c.1048G>T (p.Ala350Ser)
c.1378G>T (p.Ala460Ser)
6g.107634669_107634674dupCA2679876748SOBPc.1825_1830dup (p.Pro610_Thr611insAlaPro)
c.1978_1983dup (p.Pro661_Thr662insAlaPro)
c.1882_1887dup (p.Pro629_Thr630insAlaPro)
c.1864_1869dup (p.Pro623_Thr624insAlaPro)
c.1237_1242dup (p.Pro414_Thr415insAlaPro)
c.1048_1053dup (p.Pro351_Thr352insAlaPro)
c.1378_1383dup (p.Pro461_Thr462insAlaPro)
 gnomAD v4
6g.107634669_107634675delinsGCGCCCACA1653939065SOBPc.1825_1831delinsGCGCCCA (p.Ala609=)
c.1978_1984delinsGCGCCCA (p.Ala660=)
c.1882_1888delinsGCGCCCA (p.Ala628=)
c.1864_1870delinsGCGCCCA (p.Ala622=)
c.1237_1243delinsGCGCCCA (p.Ala413=)
c.1048_1054delinsGCGCCCA (p.Ala350=)
c.1378_1384delinsGCGCCCA (p.Ala460=)
6g.107634670C>ACA365171364SOBPc.1826C>A (p.Ala609Glu)
c.1979C>A (p.Ala660Glu)
c.1883C>A (p.Ala628Glu)
c.1865C>A (p.Ala622Glu)
c.1238C>A (p.Ala413Glu)
c.1049C>A (p.Ala350Glu)
c.1379C>A (p.Ala460Glu)
 gnomAD v4
6g.107634670C>GCA365171366SOBPc.1826C>G (p.Ala609Gly)
c.1979C>G (p.Ala660Gly)
c.1883C>G (p.Ala628Gly)
c.1865C>G (p.Ala622Gly)
c.1238C>G (p.Ala413Gly)
c.1049C>G (p.Ala350Gly)
c.1379C>G (p.Ala460Gly)
6g.107634670C>TCA365171365SOBPc.1826C>T (p.Ala609Val)
c.1979C>T (p.Ala660Val)
c.1883C>T (p.Ala628Val)
c.1865C>T (p.Ala622Val)
c.1238C>T (p.Ala413Val)
c.1049C>T (p.Ala350Val)
c.1379C>T (p.Ala460Val)
 gnomAD v4
6g.107634675_107634680delCA1653939069SOBPc.1831_1836del (p.Thr611_Pro612del)
c.1984_1989del (p.Thr662_Pro663del)
c.1888_1893del (p.Thr630_Pro631del)
c.1870_1875del (p.Thr624_Pro625del)
c.1243_1248del (p.Thr415_Pro416del)
c.1054_1059del (p.Thr352_Pro353del)
c.1384_1389del (p.Thr462_Pro463del)
 dbSNP
6g.107634671G>ACA451581482SOBPc.1827G>A (p.Ala609=)
c.1980G>A (p.Ala660=)
c.1884G>A (p.Ala628=)
c.1866G>A (p.Ala622=)
c.1239G>A (p.Ala413=)
c.1050G>A (p.Ala350=)
c.1380G>A (p.Ala460=)
 dbSNP gnomAD v2 gnomAD v4
6g.107634671G>CCA451581484SOBPc.1827G>C (p.Ala609=)
c.1980G>C (p.Ala660=)
c.1884G>C (p.Ala628=)
c.1866G>C (p.Ala622=)
c.1239G>C (p.Ala413=)
c.1050G>C (p.Ala350=)
c.1380G>C (p.Ala460=)
6g.107634671G=CA1653939072SOBPc.1827G= (p.Ala609=)
c.1980G= (p.Ala660=)
c.1884G= (p.Ala628=)
c.1866G= (p.Ala622=)
c.1239G= (p.Ala413=)
c.1050G= (p.Ala350=)
c.1380G= (p.Ala460=)
6g.107634671G>TCA3946598SOBPc.1827G>T (p.Ala609=)
c.1980G>T (p.Ala660=)
c.1884G>T (p.Ala628=)
c.1866G>T (p.Ala622=)
c.1239G>T (p.Ala413=)
c.1050G>T (p.Ala350=)
c.1380G>T (p.Ala460=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107634672C>ACA365171367SOBPc.1828C>A (p.Pro610Thr)
c.1981C>A (p.Pro661Thr)
c.1885C>A (p.Pro629Thr)
c.1867C>A (p.Pro623Thr)
c.1240C>A (p.Pro414Thr)
c.1051C>A (p.Pro351Thr)
c.1381C>A (p.Pro461Thr)
6g.107634672C>GCA365171368SOBPc.1828C>G (p.Pro610Ala)
c.1981C>G (p.Pro661Ala)
c.1885C>G (p.Pro629Ala)
c.1867C>G (p.Pro623Ala)
c.1240C>G (p.Pro414Ala)
c.1051C>G (p.Pro351Ala)
c.1381C>G (p.Pro461Ala)
6g.107634672C>TCA365171369SOBPc.1828C>T (p.Pro610Ser)
c.1981C>T (p.Pro661Ser)
c.1885C>T (p.Pro629Ser)
c.1867C>T (p.Pro623Ser)
c.1240C>T (p.Pro414Ser)
c.1051C>T (p.Pro351Ser)
c.1381C>T (p.Pro461Ser)
 gnomAD v4
6g.107634674delCA2772523041SOBPc.1830del (p.Thr611ArgfsTer13)
c.1983del (p.Thr662ArgfsTer13)
c.1887del (p.Thr630ArgfsTer13)
c.1869del (p.Thr624ArgfsTer13)
c.1242del (p.Thr415ArgfsTer13)
c.1053del (p.Thr352ArgfsTer13)
c.1383del (p.Thr462ArgfsTer13)
6g.107634673C>ACA365171372SOBPc.1829C>A (p.Pro610His)
c.1982C>A (p.Pro661His)
c.1886C>A (p.Pro629His)
c.1868C>A (p.Pro623His)
c.1241C>A (p.Pro414His)
c.1052C>A (p.Pro351His)
c.1382C>A (p.Pro461His)
 gnomAD v4
6g.107634673C>GCA365171370SOBPc.1829C>G (p.Pro610Arg)
c.1982C>G (p.Pro661Arg)
c.1886C>G (p.Pro629Arg)
c.1868C>G (p.Pro623Arg)
c.1241C>G (p.Pro414Arg)
c.1052C>G (p.Pro351Arg)
c.1382C>G (p.Pro461Arg)
6g.107634673C>TCA365171371SOBPc.1829C>T (p.Pro610Leu)
c.1982C>T (p.Pro661Leu)
c.1886C>T (p.Pro629Leu)
c.1868C>T (p.Pro623Leu)
c.1241C>T (p.Pro414Leu)
c.1052C>T (p.Pro351Leu)
c.1382C>T (p.Pro461Leu)
6g.107634674C>ACA451581489SOBPc.1830C>A (p.Pro610=)
c.1983C>A (p.Pro661=)
c.1887C>A (p.Pro629=)
c.1869C>A (p.Pro623=)
c.1242C>A (p.Pro414=)
c.1053C>A (p.Pro351=)
c.1383C>A (p.Pro461=)
6g.107634674C>GCA451581491SOBPc.1830C>G (p.Pro610=)
c.1983C>G (p.Pro661=)
c.1887C>G (p.Pro629=)
c.1869C>G (p.Pro623=)
c.1242C>G (p.Pro414=)
c.1053C>G (p.Pro351=)
c.1383C>G (p.Pro461=)
6g.107634674C>TCA451581493SOBPc.1830C>T (p.Pro610=)
c.1983C>T (p.Pro661=)
c.1887C>T (p.Pro629=)
c.1869C>T (p.Pro623=)
c.1242C>T (p.Pro414=)
c.1053C>T (p.Pro351=)
c.1383C>T (p.Pro461=)
 gnomAD v4
6g.107634675A>CCA365171373SOBPc.1831A>C (p.Thr611Pro)
c.1984A>C (p.Thr662Pro)
c.1888A>C (p.Thr630Pro)
c.1870A>C (p.Thr624Pro)
c.1243A>C (p.Thr415Pro)
c.1054A>C (p.Thr352Pro)
c.1384A>C (p.Thr462Pro)
 gnomAD v4
6g.107634675A>GCA365171374SOBPc.1831A>G (p.Thr611Ala)
c.1984A>G (p.Thr662Ala)
c.1888A>G (p.Thr630Ala)
c.1870A>G (p.Thr624Ala)
c.1243A>G (p.Thr415Ala)
c.1054A>G (p.Thr352Ala)
c.1384A>G (p.Thr462Ala)
6g.107634675A>TCA365171375SOBPc.1831A>T (p.Thr611Ser)
c.1984A>T (p.Thr662Ser)
c.1888A>T (p.Thr630Ser)
c.1870A>T (p.Thr624Ser)
c.1243A>T (p.Thr415Ser)
c.1054A>T (p.Thr352Ser)
c.1384A>T (p.Thr462Ser)
 gnomAD v4
6g.107634676C>ACA365171376SOBPc.1832C>A (p.Thr611Lys)
c.1985C>A (p.Thr662Lys)
c.1889C>A (p.Thr630Lys)
c.1871C>A (p.Thr624Lys)
c.1244C>A (p.Thr415Lys)
c.1055C>A (p.Thr352Lys)
c.1385C>A (p.Thr462Lys)
 dbSNP
6g.107634676C=CA1653939075SOBPc.1832C= (p.Thr611=)
c.1985C= (p.Thr662=)
c.1889C= (p.Thr630=)
c.1871C= (p.Thr624=)
c.1244C= (p.Thr415=)
c.1055C= (p.Thr352=)
c.1385C= (p.Thr462=)
6g.107634676C>GCA365171377SOBPc.1832C>G (p.Thr611Arg)
c.1985C>G (p.Thr662Arg)
c.1889C>G (p.Thr630Arg)
c.1871C>G (p.Thr624Arg)
c.1244C>G (p.Thr415Arg)
c.1055C>G (p.Thr352Arg)
c.1385C>G (p.Thr462Arg)
 gnomAD v4
6g.107634676C>TCA145013790SOBPc.1832C>T (p.Thr611Met)
c.1985C>T (p.Thr662Met)
c.1889C>T (p.Thr630Met)
c.1871C>T (p.Thr624Met)
c.1244C>T (p.Thr415Met)
c.1055C>T (p.Thr352Met)
c.1385C>T (p.Thr462Met)
 dbSNP gnomAD v3 gnomAD v4
6g.107634677G>ACA451581504SOBPc.1833G>A (p.Thr611=)
c.1986G>A (p.Thr662=)
c.1890G>A (p.Thr630=)
c.1872G>A (p.Thr624=)
c.1245G>A (p.Thr415=)
c.1056G>A (p.Thr352=)
c.1386G>A (p.Thr462=)
 dbSNP gnomAD v2 gnomAD v4
6g.107634677G>CCA451581507SOBPc.1833G>C (p.Thr611=)
c.1986G>C (p.Thr662=)
c.1890G>C (p.Thr630=)
c.1872G>C (p.Thr624=)
c.1245G>C (p.Thr415=)
c.1056G>C (p.Thr352=)
c.1386G>C (p.Thr462=)
6g.107634677G=CA1653939081SOBPc.1833G= (p.Thr611=)
c.1986G= (p.Thr662=)
c.1890G= (p.Thr630=)
c.1872G= (p.Thr624=)
c.1245G= (p.Thr415=)
c.1056G= (p.Thr352=)
c.1386G= (p.Thr462=)
6g.107634677G>TCA451581510SOBPc.1833G>T (p.Thr611=)
c.1986G>T (p.Thr662=)
c.1890G>T (p.Thr630=)
c.1872G>T (p.Thr624=)
c.1245G>T (p.Thr415=)
c.1056G>T (p.Thr352=)
c.1386G>T (p.Thr462=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634678C>ACA365171378SOBPc.1834C>A (p.Pro612Thr)
c.1987C>A (p.Pro663Thr)
c.1891C>A (p.Pro631Thr)
c.1873C>A (p.Pro625Thr)
c.1246C>A (p.Pro416Thr)
c.1057C>A (p.Pro353Thr)
c.1387C>A (p.Pro463Thr)
6g.107634678C=CA1653939085SOBPc.1834C= (p.Pro612=)
c.1987C= (p.Pro663=)
c.1891C= (p.Pro631=)
c.1873C= (p.Pro625=)
c.1246C= (p.Pro416=)
c.1057C= (p.Pro353=)
c.1387C= (p.Pro463=)
6g.107634678C>GCA365171379SOBPc.1834C>G (p.Pro612Ala)
c.1987C>G (p.Pro663Ala)
c.1891C>G (p.Pro631Ala)
c.1873C>G (p.Pro625Ala)
c.1246C>G (p.Pro416Ala)
c.1057C>G (p.Pro353Ala)
c.1387C>G (p.Pro463Ala)
 gnomAD v4
6g.107634678C>TCA365171380SOBPc.1834C>T (p.Pro612Ser)
c.1987C>T (p.Pro663Ser)
c.1891C>T (p.Pro631Ser)
c.1873C>T (p.Pro625Ser)
c.1246C>T (p.Pro416Ser)
c.1057C>T (p.Pro353Ser)
c.1387C>T (p.Pro463Ser)
 dbSNP gnomAD v2 gnomAD v4
6g.107634679C>ACA365171381SOBPc.1835C>A (p.Pro612His)
c.1988C>A (p.Pro663His)
c.1892C>A (p.Pro631His)
c.1874C>A (p.Pro625His)
c.1247C>A (p.Pro416His)
c.1058C>A (p.Pro353His)
c.1388C>A (p.Pro463His)
 gnomAD v4
6g.107634679C=CA1653939088SOBPc.1835C= (p.Pro612=)
c.1988C= (p.Pro663=)
c.1892C= (p.Pro631=)
c.1874C= (p.Pro625=)
c.1247C= (p.Pro416=)
c.1058C= (p.Pro353=)
c.1388C= (p.Pro463=)
6g.107634679C>GCA365171382SOBPc.1835C>G (p.Pro612Arg)
c.1988C>G (p.Pro663Arg)
c.1892C>G (p.Pro631Arg)
c.1874C>G (p.Pro625Arg)
c.1247C>G (p.Pro416Arg)
c.1058C>G (p.Pro353Arg)
c.1388C>G (p.Pro463Arg)
6g.107634679C>TCA365171383SOBPc.1835C>T (p.Pro612Leu)
c.1988C>T (p.Pro663Leu)
c.1892C>T (p.Pro631Leu)
c.1874C>T (p.Pro625Leu)
c.1247C>T (p.Pro416Leu)
c.1058C>T (p.Pro353Leu)
c.1388C>T (p.Pro463Leu)
 dbSNP gnomAD v2 gnomAD v4
6g.107634680C>ACA451581512SOBPc.1836C>A (p.Pro612=)
c.1989C>A (p.Pro663=)
c.1893C>A (p.Pro631=)
c.1875C>A (p.Pro625=)
c.1248C>A (p.Pro416=)
c.1059C>A (p.Pro353=)
c.1389C>A (p.Pro463=)
6g.107634680C=CA1653939090SOBPc.1836C= (p.Pro612=)
c.1989C= (p.Pro663=)
c.1893C= (p.Pro631=)
c.1875C= (p.Pro625=)
c.1248C= (p.Pro416=)
c.1059C= (p.Pro353=)
c.1389C= (p.Pro463=)
6g.107634680C>GCA451581513SOBPc.1836C>G (p.Pro612=)
c.1989C>G (p.Pro663=)
c.1893C>G (p.Pro631=)
c.1875C>G (p.Pro625=)
c.1248C>G (p.Pro416=)
c.1059C>G (p.Pro353=)
c.1389C>G (p.Pro463=)
6g.107634680C>TCA3946599SOBPc.1836C>T (p.Pro612=)
c.1989C>T (p.Pro663=)
c.1893C>T (p.Pro631=)
c.1875C>T (p.Pro625=)
c.1248C>T (p.Pro416=)
c.1059C>T (p.Pro353=)
c.1389C>T (p.Pro463=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107634681G>ACA365171384SOBPc.1837G>A (p.Ala613Thr)
c.1990G>A (p.Ala664Thr)
c.1894G>A (p.Ala632Thr)
c.1876G>A (p.Ala626Thr)
c.1249G>A (p.Ala417Thr)
c.1060G>A (p.Ala354Thr)
c.1390G>A (p.Ala464Thr)
 dbSNP gnomAD v2 gnomAD v4
6g.107634681G>CCA365171386SOBPc.1837G>C (p.Ala613Pro)
c.1990G>C (p.Ala664Pro)
c.1894G>C (p.Ala632Pro)
c.1876G>C (p.Ala626Pro)
c.1249G>C (p.Ala417Pro)
c.1060G>C (p.Ala354Pro)
c.1390G>C (p.Ala464Pro)
6g.107634681G=CA1653939091SOBPc.1837G= (p.Ala613=)
c.1990G= (p.Ala664=)
c.1894G= (p.Ala632=)
c.1876G= (p.Ala626=)
c.1249G= (p.Ala417=)
c.1060G= (p.Ala354=)
c.1390G= (p.Ala464=)
6g.107634681G>TCA365171385SOBPc.1837G>T (p.Ala613Ser)
c.1990G>T (p.Ala664Ser)
c.1894G>T (p.Ala632Ser)
c.1876G>T (p.Ala626Ser)
c.1249G>T (p.Ala417Ser)
c.1060G>T (p.Ala354Ser)
c.1390G>T (p.Ala464Ser)
 dbSNP gnomAD v4
6g.107634682C>ACA365171387SOBPc.1838C>A (p.Ala613Asp)
c.1991C>A (p.Ala664Asp)
c.1895C>A (p.Ala632Asp)
c.1877C>A (p.Ala626Asp)
c.1250C>A (p.Ala417Asp)
c.1061C>A (p.Ala354Asp)
c.1391C>A (p.Ala464Asp)
 gnomAD v4
6g.107634682C>GCA365171388SOBPc.1838C>G (p.Ala613Gly)
c.1991C>G (p.Ala664Gly)
c.1895C>G (p.Ala632Gly)
c.1877C>G (p.Ala626Gly)
c.1250C>G (p.Ala417Gly)
c.1061C>G (p.Ala354Gly)
c.1391C>G (p.Ala464Gly)
6g.107634682C>TCA365171389SOBPc.1838C>T (p.Ala613Val)
c.1991C>T (p.Ala664Val)
c.1895C>T (p.Ala632Val)
c.1877C>T (p.Ala626Val)
c.1250C>T (p.Ala417Val)
c.1061C>T (p.Ala354Val)
c.1391C>T (p.Ala464Val)
6g.107634683C>ACA451581527SOBPc.1839C>A (p.Ala613=)
c.1992C>A (p.Ala664=)
c.1896C>A (p.Ala632=)
c.1878C>A (p.Ala626=)
c.1251C>A (p.Ala417=)
c.1062C>A (p.Ala354=)
c.1392C>A (p.Ala464=)
6g.107634683C=CA1653939093SOBPc.1839C= (p.Ala613=)
c.1992C= (p.Ala664=)
c.1896C= (p.Ala632=)
c.1878C= (p.Ala626=)
c.1251C= (p.Ala417=)
c.1062C= (p.Ala354=)
c.1392C= (p.Ala464=)
6g.107634683C>GCA451581532SOBPc.1839C>G (p.Ala613=)
c.1992C>G (p.Ala664=)
c.1896C>G (p.Ala632=)
c.1878C>G (p.Ala626=)
c.1251C>G (p.Ala417=)
c.1062C>G (p.Ala354=)
c.1392C>G (p.Ala464=)
 dbSNP gnomAD v4
6g.107634683C>TCA451581529SOBPc.1839C>T (p.Ala613=)
c.1992C>T (p.Ala664=)
c.1896C>T (p.Ala632=)
c.1878C>T (p.Ala626=)
c.1251C>T (p.Ala417=)
c.1062C>T (p.Ala354=)
c.1392C>T (p.Ala464=)
 dbSNP gnomAD v4
6g.107634684G>ACA3946600SOBPc.1840G>A (p.Glu614Lys)
c.1993G>A (p.Glu665Lys)
c.1897G>A (p.Glu633Lys)
c.1879G>A (p.Glu627Lys)
c.1252G>A (p.Glu418Lys)
c.1063G>A (p.Glu355Lys)
c.1393G>A (p.Glu465Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107634684G>CCA365171390SOBPc.1840G>C (p.Glu614Gln)
c.1993G>C (p.Glu665Gln)
c.1897G>C (p.Glu633Gln)
c.1879G>C (p.Glu627Gln)
c.1252G>C (p.Glu418Gln)
c.1063G>C (p.Glu355Gln)
c.1393G>C (p.Glu465Gln)
 dbSNP
6g.107634684G=CA1653939096SOBPc.1840G= (p.Glu614=)
c.1993G= (p.Glu665=)
c.1897G= (p.Glu633=)
c.1879G= (p.Glu627=)
c.1252G= (p.Glu418=)
c.1063G= (p.Glu355=)
c.1393G= (p.Glu465=)
6g.107634684G>TCA365171391SOBPc.1840G>T (p.Glu614Ter)
c.1993G>T (p.Glu665Ter)
c.1897G>T (p.Glu633Ter)
c.1879G>T (p.Glu627Ter)
c.1252G>T (p.Glu418Ter)
c.1063G>T (p.Glu355Ter)
c.1393G>T (p.Glu465Ter)
 gnomAD v4
6g.107634685A>CCA365171394SOBPc.1841A>C (p.Glu614Ala)
c.1994A>C (p.Glu665Ala)
c.1898A>C (p.Glu633Ala)
c.1880A>C (p.Glu627Ala)
c.1253A>C (p.Glu418Ala)
c.1064A>C (p.Glu355Ala)
c.1394A>C (p.Glu465Ala)
6g.107634685A>GCA365171392SOBPc.1841A>G (p.Glu614Gly)
c.1994A>G (p.Glu665Gly)
c.1898A>G (p.Glu633Gly)
c.1880A>G (p.Glu627Gly)
c.1253A>G (p.Glu418Gly)
c.1064A>G (p.Glu355Gly)
c.1394A>G (p.Glu465Gly)
 gnomAD v4
6g.107634685A>TCA365171393SOBPc.1841A>T (p.Glu614Val)
c.1994A>T (p.Glu665Val)
c.1898A>T (p.Glu633Val)
c.1880A>T (p.Glu627Val)
c.1253A>T (p.Glu418Val)
c.1064A>T (p.Glu355Val)
c.1394A>T (p.Glu465Val)
6g.107634686G>ACA451581538SOBPc.1842G>A (p.Glu614=)
c.1995G>A (p.Glu665=)
c.1899G>A (p.Glu633=)
c.1881G>A (p.Glu627=)
c.1254G>A (p.Glu418=)
c.1065G>A (p.Glu355=)
c.1395G>A (p.Glu465=)
 dbSNP gnomAD v3 gnomAD v4
6g.107634686G>CCA365171395SOBPc.1842G>C (p.Glu614Asp)
c.1995G>C (p.Glu665Asp)
c.1899G>C (p.Glu633Asp)
c.1881G>C (p.Glu627Asp)
c.1254G>C (p.Glu418Asp)
c.1065G>C (p.Glu355Asp)
c.1395G>C (p.Glu465Asp)
6g.107634686G=CA1653939097SOBPc.1842G= (p.Glu614=)
c.1995G= (p.Glu665=)
c.1899G= (p.Glu633=)
c.1881G= (p.Glu627=)
c.1254G= (p.Glu418=)
c.1065G= (p.Glu355=)
c.1395G= (p.Glu465=)
6g.107634686G>TCA365171396SOBPc.1842G>T (p.Glu614Asp)
c.1995G>T (p.Glu665Asp)
c.1899G>T (p.Glu633Asp)
c.1881G>T (p.Glu627Asp)
c.1254G>T (p.Glu418Asp)
c.1065G>T (p.Glu355Asp)
c.1395G>T (p.Glu465Asp)
 gnomAD v4
6g.107634687C>ACA365171397SOBPc.1843C>A (p.His615Asn)
c.1996C>A (p.His666Asn)
c.1900C>A (p.His634Asn)
c.1882C>A (p.His628Asn)
c.1255C>A (p.His419Asn)
c.1066C>A (p.His356Asn)
c.1396C>A (p.His466Asn)
 gnomAD v4
6g.107634687C>GCA365171398SOBPc.1843C>G (p.His615Asp)
c.1996C>G (p.His666Asp)
c.1900C>G (p.His634Asp)
c.1882C>G (p.His628Asp)
c.1255C>G (p.His419Asp)
c.1066C>G (p.His356Asp)
c.1396C>G (p.His466Asp)
6g.107634687C>TCA365171399SOBPc.1843C>T (p.His615Tyr)
c.1996C>T (p.His666Tyr)
c.1900C>T (p.His634Tyr)
c.1882C>T (p.His628Tyr)
c.1255C>T (p.His419Tyr)
c.1066C>T (p.His356Tyr)
c.1396C>T (p.His466Tyr)
 gnomAD v4
6g.107634688A=CA1653939100SOBPc.1844A= (p.His615=)
c.1997A= (p.His666=)
c.1901A= (p.His634=)
c.1883A= (p.His628=)
c.1256A= (p.His419=)
c.1067A= (p.His356=)
c.1397A= (p.His466=)
6g.107634688A>CCA365171400SOBPc.1844A>C (p.His615Pro)
c.1997A>C (p.His666Pro)
c.1901A>C (p.His634Pro)
c.1883A>C (p.His628Pro)
c.1256A>C (p.His419Pro)
c.1067A>C (p.His356Pro)
c.1397A>C (p.His466Pro)
6g.107634688A>GCA365171402SOBPc.1844A>G (p.His615Arg)
c.1997A>G (p.His666Arg)
c.1901A>G (p.His634Arg)
c.1883A>G (p.His628Arg)
c.1256A>G (p.His419Arg)
c.1067A>G (p.His356Arg)
c.1397A>G (p.His466Arg)
 dbSNP gnomAD v3 gnomAD v4
6g.107634688A>TCA365171401SOBPc.1844A>T (p.His615Leu)
c.1997A>T (p.His666Leu)
c.1901A>T (p.His634Leu)
c.1883A>T (p.His628Leu)
c.1256A>T (p.His419Leu)
c.1067A>T (p.His356Leu)
c.1397A>T (p.His466Leu)
6g.107634689T>ACA365171403SOBPc.1845T>A (p.His615Gln)
c.1998T>A (p.His666Gln)
c.1902T>A (p.His634Gln)
c.1884T>A (p.His628Gln)
c.1257T>A (p.His419Gln)
c.1068T>A (p.His356Gln)
c.1398T>A (p.His466Gln)
 gnomAD v4
6g.107634689T>CCA451581552SOBPc.1845T>C (p.His615=)
c.1998T>C (p.His666=)
c.1902T>C (p.His634=)
c.1884T>C (p.His628=)
c.1257T>C (p.His419=)
c.1068T>C (p.His356=)
c.1398T>C (p.His466=)
 dbSNP gnomAD v4
6g.107634689T>GCA365171404SOBPc.1845T>G (p.His615Gln)
c.1998T>G (p.His666Gln)
c.1902T>G (p.His634Gln)
c.1884T>G (p.His628Gln)
c.1257T>G (p.His419Gln)
c.1068T>G (p.His356Gln)
c.1398T>G (p.His466Gln)
6g.107634690G>ACA365171405SOBPc.1846G>A (p.Gly616Ser)
c.1999G>A (p.Gly667Ser)
c.1903G>A (p.Gly635Ser)
c.1885G>A (p.Gly629Ser)
c.1258G>A (p.Gly420Ser)
c.1069G>A (p.Gly357Ser)
c.1399G>A (p.Gly467Ser)
6g.107634690G>CCA365171406SOBPc.1846G>C (p.Gly616Arg)
c.1999G>C (p.Gly667Arg)
c.1903G>C (p.Gly635Arg)
c.1885G>C (p.Gly629Arg)
c.1258G>C (p.Gly420Arg)
c.1069G>C (p.Gly357Arg)
c.1399G>C (p.Gly467Arg)
6g.107634690G>TCA365171407SOBPc.1846G>T (p.Gly616Cys)
c.1999G>T (p.Gly667Cys)
c.1903G>T (p.Gly635Cys)
c.1885G>T (p.Gly629Cys)
c.1258G>T (p.Gly420Cys)
c.1069G>T (p.Gly357Cys)
c.1399G>T (p.Gly467Cys)
6g.107634691G>ACA365171408SOBPc.1847G>A (p.Gly616Asp)
c.2000G>A (p.Gly667Asp)
c.1904G>A (p.Gly635Asp)
c.1886G>A (p.Gly629Asp)
c.1259G>A (p.Gly420Asp)
c.1070G>A (p.Gly357Asp)
c.1400G>A (p.Gly467Asp)
 dbSNP gnomAD v3 gnomAD v4
6g.107634691G>CCA365171409SOBPc.1847G>C (p.Gly616Ala)
c.2000G>C (p.Gly667Ala)
c.1904G>C (p.Gly635Ala)
c.1886G>C (p.Gly629Ala)
c.1259G>C (p.Gly420Ala)
c.1070G>C (p.Gly357Ala)
c.1400G>C (p.Gly467Ala)
6g.107634691G=CA1653939103SOBPc.1847G= (p.Gly616=)
c.2000G= (p.Gly667=)
c.1904G= (p.Gly635=)
c.1886G= (p.Gly629=)
c.1259G= (p.Gly420=)
c.1070G= (p.Gly357=)
c.1400G= (p.Gly467=)
6g.107634691G>TCA365171410SOBPc.1847G>T (p.Gly616Val)
c.2000G>T (p.Gly667Val)
c.1904G>T (p.Gly635Val)
c.1886G>T (p.Gly629Val)
c.1259G>T (p.Gly420Val)
c.1070G>T (p.Gly357Val)
c.1400G>T (p.Gly467Val)
 gnomAD v4
6g.107634692C>ACA451581560SOBPc.1848C>A (p.Gly616=)
c.2001C>A (p.Gly667=)
c.1905C>A (p.Gly635=)
c.1887C>A (p.Gly629=)
c.1260C>A (p.Gly420=)
c.1071C>A (p.Gly357=)
c.1401C>A (p.Gly467=)
 gnomAD v4
6g.107634692C>GCA451581563SOBPc.1848C>G (p.Gly616=)
c.2001C>G (p.Gly667=)
c.1905C>G (p.Gly635=)
c.1887C>G (p.Gly629=)
c.1260C>G (p.Gly420=)
c.1071C>G (p.Gly357=)
c.1401C>G (p.Gly467=)
 gnomAD v4
6g.107634692C>TCA451581565SOBPc.1848C>T (p.Gly616=)
c.2001C>T (p.Gly667=)
c.1905C>T (p.Gly635=)
c.1887C>T (p.Gly629=)
c.1260C>T (p.Gly420=)
c.1071C>T (p.Gly357=)
c.1401C>T (p.Gly467=)
 gnomAD v4
6g.107634693C>ACA451581569SOBPc.1849C>A (p.Arg617=)
c.2002C>A (p.Arg668=)
c.1906C>A (p.Arg636=)
c.1888C>A (p.Arg630=)
c.1261C>A (p.Arg421=)
c.1072C>A (p.Arg358=)
c.1402C>A (p.Arg468=)
 gnomAD v4
6g.107634693C=CA1653939106SOBPc.1849C= (p.Arg617=)
c.2002C= (p.Arg668=)
c.1906C= (p.Arg636=)
c.1888C= (p.Arg630=)
c.1261C= (p.Arg421=)
c.1072C= (p.Arg358=)
c.1402C= (p.Arg468=)
6g.107634693C>GCA365171411SOBPc.1849C>G (p.Arg617Gly)
c.2002C>G (p.Arg668Gly)
c.1906C>G (p.Arg636Gly)
c.1888C>G (p.Arg630Gly)
c.1261C>G (p.Arg421Gly)
c.1072C>G (p.Arg358Gly)
c.1402C>G (p.Arg468Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634693C>TCA365171412SOBPc.1849C>T (p.Arg617Trp)
c.2002C>T (p.Arg668Trp)
c.1906C>T (p.Arg636Trp)
c.1888C>T (p.Arg630Trp)
c.1261C>T (p.Arg421Trp)
c.1072C>T (p.Arg358Trp)
c.1402C>T (p.Arg468Trp)
 gnomAD v4
6g.107634694G>ACA3946601SOBPc.1850G>A (p.Arg617Gln)
c.2003G>A (p.Arg668Gln)
c.1907G>A (p.Arg636Gln)
c.1889G>A (p.Arg630Gln)
c.1262G>A (p.Arg421Gln)
c.1073G>A (p.Arg358Gln)
c.1403G>A (p.Arg468Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107634694G>CCA365171414SOBPc.1850G>C (p.Arg617Pro)
c.2003G>C (p.Arg668Pro)
c.1907G>C (p.Arg636Pro)
c.1889G>C (p.Arg630Pro)
c.1262G>C (p.Arg421Pro)
c.1073G>C (p.Arg358Pro)
c.1403G>C (p.Arg468Pro)
 gnomAD v4
6g.107634694G=CA1653939109SOBPc.1850G= (p.Arg617=)
c.2003G= (p.Arg668=)
c.1907G= (p.Arg636=)
c.1889G= (p.Arg630=)
c.1262G= (p.Arg421=)
c.1073G= (p.Arg358=)
c.1403G= (p.Arg468=)
6g.107634694G>TCA365171413SOBPc.1850G>T (p.Arg617Leu)
c.2003G>T (p.Arg668Leu)
c.1907G>T (p.Arg636Leu)
c.1889G>T (p.Arg630Leu)
c.1262G>T (p.Arg421Leu)
c.1073G>T (p.Arg358Leu)
c.1403G>T (p.Arg468Leu)
 dbSNP gnomAD v3 gnomAD v4
6g.107634695G>ACA451581572SOBPc.1851G>A (p.Arg617=)
c.2004G>A (p.Arg668=)
c.1908G>A (p.Arg636=)
c.1890G>A (p.Arg630=)
c.1263G>A (p.Arg421=)
c.1074G>A (p.Arg358=)
c.1404G>A (p.Arg468=)
 dbSNP gnomAD v3 gnomAD v4
6g.107634695G>CCA451581575SOBPc.1851G>C (p.Arg617=)
c.2004G>C (p.Arg668=)
c.1908G>C (p.Arg636=)
c.1890G>C (p.Arg630=)
c.1263G>C (p.Arg421=)
c.1074G>C (p.Arg358=)
c.1404G>C (p.Arg468=)
6g.107634695G=CA1653939113SOBPc.1851G= (p.Arg617=)
c.2004G= (p.Arg668=)
c.1908G= (p.Arg636=)
c.1890G= (p.Arg630=)
c.1263G= (p.Arg421=)
c.1074G= (p.Arg358=)
c.1404G= (p.Arg468=)
6g.107634695G>TCA3946602SOBPc.1851G>T (p.Arg617=)
c.2004G>T (p.Arg668=)
c.1908G>T (p.Arg636=)
c.1890G>T (p.Arg630=)
c.1263G>T (p.Arg421=)
c.1074G>T (p.Arg358=)
c.1404G>T (p.Arg468=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.107634696A=CA1653939115SOBPc.1852A= (p.Ser618=)
c.2005A= (p.Ser669=)
c.1909A= (p.Ser637=)
c.1891A= (p.Ser631=)
c.1264A= (p.Ser422=)
c.1075A= (p.Ser359=)
c.1405A= (p.Ser469=)
6g.107634696A>CCA365171417SOBPc.1852A>C (p.Ser618Arg)
c.2005A>C (p.Ser669Arg)
c.1909A>C (p.Ser637Arg)
c.1891A>C (p.Ser631Arg)
c.1264A>C (p.Ser422Arg)
c.1075A>C (p.Ser359Arg)
c.1405A>C (p.Ser469Arg)
6g.107634696A>GCA365171415SOBPc.1852A>G (p.Ser618Gly)
c.2005A>G (p.Ser669Gly)
c.1909A>G (p.Ser637Gly)
c.1891A>G (p.Ser631Gly)
c.1264A>G (p.Ser422Gly)
c.1075A>G (p.Ser359Gly)
c.1405A>G (p.Ser469Gly)
 dbSNP gnomAD v4
6g.107634696A>TCA365171416SOBPc.1852A>T (p.Ser618Cys)
c.2005A>T (p.Ser669Cys)
c.1909A>T (p.Ser637Cys)
c.1891A>T (p.Ser631Cys)
c.1264A>T (p.Ser422Cys)
c.1075A>T (p.Ser359Cys)
c.1405A>T (p.Ser469Cys)
6g.107634697G>ACA365171418SOBPc.1853G>A (p.Ser618Asn)
c.2006G>A (p.Ser669Asn)
c.1910G>A (p.Ser637Asn)
c.1892G>A (p.Ser631Asn)
c.1265G>A (p.Ser422Asn)
c.1076G>A (p.Ser359Asn)
c.1406G>A (p.Ser469Asn)
 gnomAD v4
6g.107634697G>CCA365171419SOBPc.1853G>C (p.Ser618Thr)
c.2006G>C (p.Ser669Thr)
c.1910G>C (p.Ser637Thr)
c.1892G>C (p.Ser631Thr)
c.1265G>C (p.Ser422Thr)
c.1076G>C (p.Ser359Thr)
c.1406G>C (p.Ser469Thr)
6g.107634697G>TCA365171420SOBPc.1853G>T (p.Ser618Ile)
c.2006G>T (p.Ser669Ile)
c.1910G>T (p.Ser637Ile)
c.1892G>T (p.Ser631Ile)
c.1265G>T (p.Ser422Ile)
c.1076G>T (p.Ser359Ile)
c.1406G>T (p.Ser469Ile)
 gnomAD v4
6g.107634698C>ACA365171421SOBPc.1854C>A (p.Ser618Arg)
c.2007C>A (p.Ser669Arg)
c.1911C>A (p.Ser637Arg)
c.1893C>A (p.Ser631Arg)
c.1266C>A (p.Ser422Arg)
c.1077C>A (p.Ser359Arg)
c.1407C>A (p.Ser469Arg)
 dbSNP
6g.107634698C=CA1653939117SOBPc.1854C= (p.Ser618=)
c.2007C= (p.Ser669=)
c.1911C= (p.Ser637=)
c.1893C= (p.Ser631=)
c.1266C= (p.Ser422=)
c.1077C= (p.Ser359=)
c.1407C= (p.Ser469=)
6g.107634698C>GCA365171422SOBPc.1854C>G (p.Ser618Arg)
c.2007C>G (p.Ser669Arg)
c.1911C>G (p.Ser637Arg)
c.1893C>G (p.Ser631Arg)
c.1266C>G (p.Ser422Arg)
c.1077C>G (p.Ser359Arg)
c.1407C>G (p.Ser469Arg)
6g.107634698C>TCA451581585SOBPc.1854C>T (p.Ser618=)
c.2007C>T (p.Ser669=)
c.1911C>T (p.Ser637=)
c.1893C>T (p.Ser631=)
c.1266C>T (p.Ser422=)
c.1077C>T (p.Ser359=)
c.1407C>T (p.Ser469=)
 gnomAD v4
6g.107634699G>ACA145013812SOBPc.1855G>A (p.Glu619Lys)
c.2008G>A (p.Glu670Lys)
c.1912G>A (p.Glu638Lys)
c.1894G>A (p.Glu632Lys)
c.1267G>A (p.Glu423Lys)
c.1078G>A (p.Glu360Lys)
c.1408G>A (p.Glu470Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634699G>CCA365171423SOBPc.1855G>C (p.Glu619Gln)
c.2008G>C (p.Glu670Gln)
c.1912G>C (p.Glu638Gln)
c.1894G>C (p.Glu632Gln)
c.1267G>C (p.Glu423Gln)
c.1078G>C (p.Glu360Gln)
c.1408G>C (p.Glu470Gln)
6g.107634699G=CA1653939119SOBPc.1855G= (p.Glu619=)
c.2008G= (p.Glu670=)
c.1912G= (p.Glu638=)
c.1894G= (p.Glu632=)
c.1267G= (p.Glu423=)
c.1078G= (p.Glu360=)
c.1408G= (p.Glu470=)
6g.107634699G>TCA365171424SOBPc.1855G>T (p.Glu619Ter)
c.2008G>T (p.Glu670Ter)
c.1912G>T (p.Glu638Ter)
c.1894G>T (p.Glu632Ter)
c.1267G>T (p.Glu423Ter)
c.1078G>T (p.Glu360Ter)
c.1408G>T (p.Glu470Ter)
 gnomAD v4
6g.107634700A>CCA365171427SOBPc.1856A>C (p.Glu619Ala)
c.2009A>C (p.Glu670Ala)
c.1913A>C (p.Glu638Ala)
c.1895A>C (p.Glu632Ala)
c.1268A>C (p.Glu423Ala)
c.1079A>C (p.Glu360Ala)
c.1409A>C (p.Glu470Ala)
6g.107634700A>GCA365171426SOBPc.1856A>G (p.Glu619Gly)
c.2009A>G (p.Glu670Gly)
c.1913A>G (p.Glu638Gly)
c.1895A>G (p.Glu632Gly)
c.1268A>G (p.Glu423Gly)
c.1079A>G (p.Glu360Gly)
c.1409A>G (p.Glu470Gly)
6g.107634700A>TCA365171425SOBPc.1856A>T (p.Glu619Val)
c.2009A>T (p.Glu670Val)
c.1913A>T (p.Glu638Val)
c.1895A>T (p.Glu632Val)
c.1268A>T (p.Glu423Val)
c.1079A>T (p.Glu360Val)
c.1409A>T (p.Glu470Val)
6g.107634701G>ACA451581591SOBPc.1857G>A (p.Glu619=)
c.2010G>A (p.Glu670=)
c.1914G>A (p.Glu638=)
c.1896G>A (p.Glu632=)
c.1269G>A (p.Glu423=)
c.1080G>A (p.Glu360=)
c.1410G>A (p.Glu470=)
 gnomAD v4
6g.107634701G>CCA365171428SOBPc.1857G>C (p.Glu619Asp)
c.2010G>C (p.Glu670Asp)
c.1914G>C (p.Glu638Asp)
c.1896G>C (p.Glu632Asp)
c.1269G>C (p.Glu423Asp)
c.1080G>C (p.Glu360Asp)
c.1410G>C (p.Glu470Asp)
6g.107634701G>TCA365171429SOBPc.1857G>T (p.Glu619Asp)
c.2010G>T (p.Glu670Asp)
c.1914G>T (p.Glu638Asp)
c.1896G>T (p.Glu632Asp)
c.1269G>T (p.Glu423Asp)
c.1080G>T (p.Glu360Asp)
c.1410G>T (p.Glu470Asp)
 gnomAD v4
6g.107634702G>ACA365171430SOBPc.1858G>A (p.Val620Met)
c.2011G>A (p.Val671Met)
c.1915G>A (p.Val639Met)
c.1897G>A (p.Val633Met)
c.1270G>A (p.Val424Met)
c.1081G>A (p.Val361Met)
c.1411G>A (p.Val471Met)
 dbSNP gnomAD v2 gnomAD v4
6g.107634702G>CCA365171431SOBPc.1858G>C (p.Val620Leu)
c.2011G>C (p.Val671Leu)
c.1915G>C (p.Val639Leu)
c.1897G>C (p.Val633Leu)
c.1270G>C (p.Val424Leu)
c.1081G>C (p.Val361Leu)
c.1411G>C (p.Val471Leu)
6g.107634702G=CA1653939121SOBPc.1858G= (p.Val620=)
c.2011G= (p.Val671=)
c.1915G= (p.Val639=)
c.1897G= (p.Val633=)
c.1270G= (p.Val424=)
c.1081G= (p.Val361=)
c.1411G= (p.Val471=)
6g.107634702G>TCA365171432SOBPc.1858G>T (p.Val620Leu)
c.2011G>T (p.Val671Leu)
c.1915G>T (p.Val639Leu)
c.1897G>T (p.Val633Leu)
c.1270G>T (p.Val424Leu)
c.1081G>T (p.Val361Leu)
c.1411G>T (p.Val471Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634703T>ACA365171433SOBPc.1859T>A (p.Val620Glu)
c.2012T>A (p.Val671Glu)
c.1916T>A (p.Val639Glu)
c.1898T>A (p.Val633Glu)
c.1271T>A (p.Val424Glu)
c.1082T>A (p.Val361Glu)
c.1412T>A (p.Val471Glu)
 dbSNP
6g.107634703T>CCA365171434SOBPc.1859T>C (p.Val620Ala)
c.2012T>C (p.Val671Ala)
c.1916T>C (p.Val639Ala)
c.1898T>C (p.Val633Ala)
c.1271T>C (p.Val424Ala)
c.1082T>C (p.Val361Ala)
c.1412T>C (p.Val471Ala)
6g.107634703T>GCA365171435SOBPc.1859T>G (p.Val620Gly)
c.2012T>G (p.Val671Gly)
c.1916T>G (p.Val639Gly)
c.1898T>G (p.Val633Gly)
c.1271T>G (p.Val424Gly)
c.1082T>G (p.Val361Gly)
c.1412T>G (p.Val471Gly)
6g.107634704G>ACA3946603SOBPc.1860G>A (p.Val620=)
c.2013G>A (p.Val671=)
c.1917G>A (p.Val639=)
c.1899G>A (p.Val633=)
c.1272G>A (p.Val424=)
c.1083G>A (p.Val361=)
c.1413G>A (p.Val471=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107634704G>CCA451581601SOBPc.1860G>C (p.Val620=)
c.2013G>C (p.Val671=)
c.1917G>C (p.Val639=)
c.1899G>C (p.Val633=)
c.1272G>C (p.Val424=)
c.1083G>C (p.Val361=)
c.1413G>C (p.Val471=)
6g.107634704G=CA1653939128SOBPc.1860G= (p.Val620=)
c.2013G= (p.Val671=)
c.1917G= (p.Val639=)
c.1899G= (p.Val633=)
c.1272G= (p.Val424=)
c.1083G= (p.Val361=)
c.1413G= (p.Val471=)
6g.107634704G>TCA451581598SOBPc.1860G>T (p.Val620=)
c.2013G>T (p.Val671=)
c.1917G>T (p.Val639=)
c.1899G>T (p.Val633=)
c.1272G>T (p.Val424=)
c.1083G>T (p.Val361=)
c.1413G>T (p.Val471=)
 gnomAD v4
6g.107634705G>ACA365171436SOBPc.1861G>A (p.Val621Met)
c.2014G>A (p.Val672Met)
c.1918G>A (p.Val640Met)
c.1900G>A (p.Val634Met)
c.1273G>A (p.Val425Met)
c.1084G>A (p.Val362Met)
c.1414G>A (p.Val472Met)
 dbSNP gnomAD v4
6g.107634705G>CCA365171437SOBPc.1861G>C (p.Val621Leu)
c.2014G>C (p.Val672Leu)
c.1918G>C (p.Val640Leu)
c.1900G>C (p.Val634Leu)
c.1273G>C (p.Val425Leu)
c.1084G>C (p.Val362Leu)
c.1414G>C (p.Val472Leu)
6g.107634705G=CA1653939132SOBPc.1861G= (p.Val621=)
c.2014G= (p.Val672=)
c.1918G= (p.Val640=)
c.1900G= (p.Val634=)
c.1273G= (p.Val425=)
c.1084G= (p.Val362=)
c.1414G= (p.Val472=)
6g.107634705G>TCA365171438SOBPc.1861G>T (p.Val621Leu)
c.2014G>T (p.Val672Leu)
c.1918G>T (p.Val640Leu)
c.1900G>T (p.Val634Leu)
c.1273G>T (p.Val425Leu)
c.1084G>T (p.Val362Leu)
c.1414G>T (p.Val472Leu)
 gnomAD v4
6g.107634706T>ACA365171440SOBPc.1862T>A (p.Val621Glu)
c.2015T>A (p.Val672Glu)
c.1919T>A (p.Val640Glu)
c.1901T>A (p.Val634Glu)
c.1274T>A (p.Val425Glu)
c.1085T>A (p.Val362Glu)
c.1415T>A (p.Val472Glu)
6g.107634706T>CCA365171441SOBPc.1862T>C (p.Val621Ala)
c.2015T>C (p.Val672Ala)
c.1919T>C (p.Val640Ala)
c.1901T>C (p.Val634Ala)
c.1274T>C (p.Val425Ala)
c.1085T>C (p.Val362Ala)
c.1415T>C (p.Val472Ala)
6g.107634706T>GCA365171439SOBPc.1862T>G (p.Val621Gly)
c.2015T>G (p.Val672Gly)
c.1919T>G (p.Val640Gly)
c.1901T>G (p.Val634Gly)
c.1274T>G (p.Val425Gly)
c.1085T>G (p.Val362Gly)
c.1415T>G (p.Val472Gly)
6g.107634707G>ACA451581606SOBPc.1863G>A (p.Val621=)
c.2016G>A (p.Val672=)
c.1920G>A (p.Val640=)
c.1902G>A (p.Val634=)
c.1275G>A (p.Val425=)
c.1086G>A (p.Val362=)
c.1416G>A (p.Val472=)
 gnomAD v4
6g.107634707G>CCA451581607SOBPc.1863G>C (p.Val621=)
c.2016G>C (p.Val672=)
c.1920G>C (p.Val640=)
c.1902G>C (p.Val634=)
c.1275G>C (p.Val425=)
c.1086G>C (p.Val362=)
c.1416G>C (p.Val472=)
 dbSNP gnomAD v3 gnomAD v4
6g.107634707G=CA1653939135SOBPc.1863G= (p.Val621=)
c.2016G= (p.Val672=)
c.1920G= (p.Val640=)
c.1902G= (p.Val634=)
c.1275G= (p.Val425=)
c.1086G= (p.Val362=)
c.1416G= (p.Val472=)
6g.107634707G>TCA451581609SOBPc.1863G>T (p.Val621=)
c.2016G>T (p.Val672=)
c.1920G>T (p.Val640=)
c.1902G>T (p.Val634=)
c.1275G>T (p.Val425=)
c.1086G>T (p.Val362=)
c.1416G>T (p.Val472=)
 gnomAD v4
6g.107634708G>ACA365171442SOBPc.1864G>A (p.Asp622Asn)
c.2017G>A (p.Asp673Asn)
c.1921G>A (p.Asp641Asn)
c.1903G>A (p.Asp635Asn)
c.1276G>A (p.Asp426Asn)
c.1087G>A (p.Asp363Asn)
c.1417G>A (p.Asp473Asn)
 gnomAD v4
6g.107634708G>CCA365171443SOBPc.1864G>C (p.Asp622His)
c.2017G>C (p.Asp673His)
c.1921G>C (p.Asp641His)
c.1903G>C (p.Asp635His)
c.1276G>C (p.Asp426His)
c.1087G>C (p.Asp363His)
c.1417G>C (p.Asp473His)
6g.107634708G>TCA365171444SOBPc.1864G>T (p.Asp622Tyr)
c.2017G>T (p.Asp673Tyr)
c.1921G>T (p.Asp641Tyr)
c.1903G>T (p.Asp635Tyr)
c.1276G>T (p.Asp426Tyr)
c.1087G>T (p.Asp363Tyr)
c.1417G>T (p.Asp473Tyr)
6g.107634709A=CA1653939137SOBPc.1865A= (p.Asp622=)
c.2018A= (p.Asp673=)
c.1922A= (p.Asp641=)
c.1904A= (p.Asp635=)
c.1277A= (p.Asp426=)
c.1088A= (p.Asp363=)
c.1418A= (p.Asp473=)
6g.107634709A>CCA365171445SOBPc.1865A>C (p.Asp622Ala)
c.2018A>C (p.Asp673Ala)
c.1922A>C (p.Asp641Ala)
c.1904A>C (p.Asp635Ala)
c.1277A>C (p.Asp426Ala)
c.1088A>C (p.Asp363Ala)
c.1418A>C (p.Asp473Ala)
 dbSNP
6g.107634709A>GCA3946604SOBPc.1865A>G (p.Asp622Gly)
c.2018A>G (p.Asp673Gly)
c.1922A>G (p.Asp641Gly)
c.1904A>G (p.Asp635Gly)
c.1277A>G (p.Asp426Gly)
c.1088A>G (p.Asp363Gly)
c.1418A>G (p.Asp473Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.107634709A>TCA365171446SOBPc.1865A>T (p.Asp622Val)
c.2018A>T (p.Asp673Val)
c.1922A>T (p.Asp641Val)
c.1904A>T (p.Asp635Val)
c.1277A>T (p.Asp426Val)
c.1088A>T (p.Asp363Val)
c.1418A>T (p.Asp473Val)
6g.107634710C>ACA365171447SOBPc.1866C>A (p.Asp622Glu)
c.2019C>A (p.Asp673Glu)
c.1923C>A (p.Asp641Glu)
c.1905C>A (p.Asp635Glu)
c.1278C>A (p.Asp426Glu)
c.1089C>A (p.Asp363Glu)
c.1419C>A (p.Asp473Glu)
 gnomAD v4
6g.107634710C=CA1653939141SOBPc.1866C= (p.Asp622=)
c.2019C= (p.Asp673=)
c.1923C= (p.Asp641=)
c.1905C= (p.Asp635=)
c.1278C= (p.Asp426=)
c.1089C= (p.Asp363=)
c.1419C= (p.Asp473=)
6g.107634710C>GCA365171448SOBPc.1866C>G (p.Asp622Glu)
c.2019C>G (p.Asp673Glu)
c.1923C>G (p.Asp641Glu)
c.1905C>G (p.Asp635Glu)
c.1278C>G (p.Asp426Glu)
c.1089C>G (p.Asp363Glu)
c.1419C>G (p.Asp473Glu)
6g.107634710C>TCA451581615SOBPc.1866C>T (p.Asp622=)
c.2019C>T (p.Asp673=)
c.1923C>T (p.Asp641=)
c.1905C>T (p.Asp635=)
c.1278C>T (p.Asp426=)
c.1089C>T (p.Asp363=)
c.1419C>T (p.Asp473=)
 dbSNP gnomAD v4
6g.107634711dupCA569564371SOBPc.1867dup (p.Leu623ProfsTer?)
c.2020dup (p.Leu674ProfsTer?)
c.1924dup (p.Leu642ProfsTer?)
c.1906dup (p.Leu636ProfsTer?)
c.1279dup (p.Leu427ProfsTer?)
c.1090dup (p.Leu364ProfsTer?)
c.1420dup (p.Leu474ProfsTer?)
 gnomAD v2
6g.107634711C>ACA365171449SOBPc.1867C>A (p.Leu623Met)
c.2020C>A (p.Leu674Met)
c.1924C>A (p.Leu642Met)
c.1906C>A (p.Leu636Met)
c.1279C>A (p.Leu427Met)
c.1090C>A (p.Leu364Met)
c.1420C>A (p.Leu474Met)
 gnomAD v4
6g.107634711C=CA1653939143SOBPc.1867C= (p.Leu623=)
c.2020C= (p.Leu674=)
c.1924C= (p.Leu642=)
c.1906C= (p.Leu636=)
c.1279C= (p.Leu427=)
c.1090C= (p.Leu364=)
c.1420C= (p.Leu474=)
6g.107634711C>GCA365171450SOBPc.1867C>G (p.Leu623Val)
c.2020C>G (p.Leu674Val)
c.1924C>G (p.Leu642Val)
c.1906C>G (p.Leu636Val)
c.1279C>G (p.Leu427Val)
c.1090C>G (p.Leu364Val)
c.1420C>G (p.Leu474Val)
6g.107634711C>TCA451581618SOBPc.1867C>T (p.Leu623=)
c.2020C>T (p.Leu674=)
c.1924C>T (p.Leu642=)
c.1906C>T (p.Leu636=)
c.1279C>T (p.Leu427=)
c.1090C>T (p.Leu364=)
c.1420C>T (p.Leu474=)
 dbSNP gnomAD v4
6g.107634712T>ACA365171451SOBPc.1868T>A (p.Leu623Gln)
c.2021T>A (p.Leu674Gln)
c.1925T>A (p.Leu642Gln)
c.1907T>A (p.Leu636Gln)
c.1280T>A (p.Leu427Gln)
c.1091T>A (p.Leu364Gln)
c.1421T>A (p.Leu474Gln)
 gnomAD v4
6g.107634712T>CCA365171452SOBPc.1868T>C (p.Leu623Pro)
c.2021T>C (p.Leu674Pro)
c.1925T>C (p.Leu642Pro)
c.1907T>C (p.Leu636Pro)
c.1280T>C (p.Leu427Pro)
c.1091T>C (p.Leu364Pro)
c.1421T>C (p.Leu474Pro)
 dbSNP gnomAD v2 gnomAD v4
6g.107634712T>GCA365171453SOBPc.1868T>G (p.Leu623Arg)
c.2021T>G (p.Leu674Arg)
c.1925T>G (p.Leu642Arg)
c.1907T>G (p.Leu636Arg)
c.1280T>G (p.Leu427Arg)
c.1091T>G (p.Leu364Arg)
c.1421T>G (p.Leu474Arg)
6g.107634712T=CA1653939145SOBPc.1868T= (p.Leu623=)
c.2021T= (p.Leu674=)
c.1925T= (p.Leu642=)
c.1907T= (p.Leu636=)
c.1280T= (p.Leu427=)
c.1091T= (p.Leu364=)
c.1421T= (p.Leu474=)
6g.107634713G>ACA451581621SOBPc.1869G>A (p.Leu623=)
c.2022G>A (p.Leu674=)
c.1926G>A (p.Leu642=)
c.1908G>A (p.Leu636=)
c.1281G>A (p.Leu427=)
c.1092G>A (p.Leu364=)
c.1422G>A (p.Leu474=)
 gnomAD v4
6g.107634713G>CCA451581622SOBPc.1869G>C (p.Leu623=)
c.2022G>C (p.Leu674=)
c.1926G>C (p.Leu642=)
c.1908G>C (p.Leu636=)
c.1281G>C (p.Leu427=)
c.1092G>C (p.Leu364=)
c.1422G>C (p.Leu474=)
6g.107634713G>TCA451581623SOBPc.1869G>T (p.Leu623=)
c.2022G>T (p.Leu674=)
c.1926G>T (p.Leu642=)
c.1908G>T (p.Leu636=)
c.1281G>T (p.Leu427=)
c.1092G>T (p.Leu364=)
c.1422G>T (p.Leu474=)
 gnomAD v4
6g.107634714A=CA1653939148SOBPc.1870A= (p.Thr624=)
c.2023A= (p.Thr675=)
c.1927A= (p.Thr643=)
c.1909A= (p.Thr637=)
c.1282A= (p.Thr428=)
c.1093A= (p.Thr365=)
c.1423A= (p.Thr475=)
6g.107634714A>CCA365171454SOBPc.1870A>C (p.Thr624Pro)
c.2023A>C (p.Thr675Pro)
c.1927A>C (p.Thr643Pro)
c.1909A>C (p.Thr637Pro)
c.1282A>C (p.Thr428Pro)
c.1093A>C (p.Thr365Pro)
c.1423A>C (p.Thr475Pro)
 dbSNP
6g.107634714A>GCA365171456SOBPc.1870A>G (p.Thr624Ala)
c.2023A>G (p.Thr675Ala)
c.1927A>G (p.Thr643Ala)
c.1909A>G (p.Thr637Ala)
c.1282A>G (p.Thr428Ala)
c.1093A>G (p.Thr365Ala)
c.1423A>G (p.Thr475Ala)
 gnomAD v4
6g.107634714A>TCA365171455SOBPc.1870A>T (p.Thr624Ser)
c.2023A>T (p.Thr675Ser)
c.1927A>T (p.Thr643Ser)
c.1909A>T (p.Thr637Ser)
c.1282A>T (p.Thr428Ser)
c.1093A>T (p.Thr365Ser)
c.1423A>T (p.Thr475Ser)
 dbSNP gnomAD v2 gnomAD v4
6g.107634715C>ACA365171457SOBPc.1871C>A (p.Thr624Lys)
c.2024C>A (p.Thr675Lys)
c.1928C>A (p.Thr643Lys)
c.1910C>A (p.Thr637Lys)
c.1283C>A (p.Thr428Lys)
c.1094C>A (p.Thr365Lys)
c.1424C>A (p.Thr475Lys)
 gnomAD v4
6g.107634715C=CA1653939152SOBPc.1871C= (p.Thr624=)
c.2024C= (p.Thr675=)
c.1928C= (p.Thr643=)
c.1910C= (p.Thr637=)
c.1283C= (p.Thr428=)
c.1094C= (p.Thr365=)
c.1424C= (p.Thr475=)
6g.107634715C>GCA365171458SOBPc.1871C>G (p.Thr624Arg)
c.2024C>G (p.Thr675Arg)
c.1928C>G (p.Thr643Arg)
c.1910C>G (p.Thr637Arg)
c.1283C>G (p.Thr428Arg)
c.1094C>G (p.Thr365Arg)
c.1424C>G (p.Thr475Arg)
 dbSNP gnomAD v4
6g.107634715C>TCA365171459SOBPc.1871C>T (p.Thr624Met)
c.2024C>T (p.Thr675Met)
c.1928C>T (p.Thr643Met)
c.1910C>T (p.Thr637Met)
c.1283C>T (p.Thr428Met)
c.1094C>T (p.Thr365Met)
c.1424C>T (p.Thr475Met)
 dbSNP gnomAD v2 gnomAD v4
6g.107634716G>ACA451581627SOBPc.1872G>A (p.Thr624=)
c.2025G>A (p.Thr675=)
c.1929G>A (p.Thr643=)
c.1911G>A (p.Thr637=)
c.1284G>A (p.Thr428=)
c.1095G>A (p.Thr365=)
c.1425G>A (p.Thr475=)
 gnomAD v4
6g.107634716G>CCA451581628SOBPc.1872G>C (p.Thr624=)
c.2025G>C (p.Thr675=)
c.1929G>C (p.Thr643=)
c.1911G>C (p.Thr637=)
c.1284G>C (p.Thr428=)
c.1095G>C (p.Thr365=)
c.1425G>C (p.Thr475=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634716G=CA1653939155SOBPc.1872G= (p.Thr624=)
c.2025G= (p.Thr675=)
c.1929G= (p.Thr643=)
c.1911G= (p.Thr637=)
c.1284G= (p.Thr428=)
c.1095G= (p.Thr365=)
c.1425G= (p.Thr475=)
6g.107634716G>TCA451581629SOBPc.1872G>T (p.Thr624=)
c.2025G>T (p.Thr675=)
c.1929G>T (p.Thr643=)
c.1911G>T (p.Thr637=)
c.1284G>T (p.Thr428=)
c.1095G>T (p.Thr365=)
c.1425G>T (p.Thr475=)
 gnomAD v4
6g.107634717C>ACA451581633SOBPc.1873C>A (p.Arg625=)
c.2026C>A (p.Arg676=)
c.1930C>A (p.Arg644=)
c.1912C>A (p.Arg638=)
c.1285C>A (p.Arg429=)
c.1096C>A (p.Arg366=)
c.1426C>A (p.Arg476=)
 gnomAD v4
6g.107634717C>GCA365171460SOBPc.1873C>G (p.Arg625Gly)
c.2026C>G (p.Arg676Gly)
c.1930C>G (p.Arg644Gly)
c.1912C>G (p.Arg638Gly)
c.1285C>G (p.Arg429Gly)
c.1096C>G (p.Arg366Gly)
c.1426C>G (p.Arg476Gly)
 gnomAD v4
6g.107634717C>TCA365171461SOBPc.1873C>T (p.Arg625Trp)
c.2026C>T (p.Arg676Trp)
c.1930C>T (p.Arg644Trp)
c.1912C>T (p.Arg638Trp)
c.1285C>T (p.Arg429Trp)
c.1096C>T (p.Arg366Trp)
c.1426C>T (p.Arg476Trp)
 gnomAD v4
6g.107634718G>ACA145013816SOBPc.1874G>A (p.Arg625Gln)
c.2027G>A (p.Arg676Gln)
c.1931G>A (p.Arg644Gln)
c.1913G>A (p.Arg638Gln)
c.1286G>A (p.Arg429Gln)
c.1097G>A (p.Arg366Gln)
c.1427G>A (p.Arg476Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634718G>CCA365171462SOBPc.1874G>C (p.Arg625Pro)
c.2027G>C (p.Arg676Pro)
c.1931G>C (p.Arg644Pro)
c.1913G>C (p.Arg638Pro)
c.1286G>C (p.Arg429Pro)
c.1097G>C (p.Arg366Pro)
c.1427G>C (p.Arg476Pro)
6g.107634718G=CA1653939158SOBPc.1874G= (p.Arg625=)
c.2027G= (p.Arg676=)
c.1931G= (p.Arg644=)
c.1913G= (p.Arg638=)
c.1286G= (p.Arg429=)
c.1097G= (p.Arg366=)
c.1427G= (p.Arg476=)
6g.107634718G>TCA365171463SOBPc.1874G>T (p.Arg625Leu)
c.2027G>T (p.Arg676Leu)
c.1931G>T (p.Arg644Leu)
c.1913G>T (p.Arg638Leu)
c.1286G>T (p.Arg429Leu)
c.1097G>T (p.Arg366Leu)
c.1427G>T (p.Arg476Leu)
 gnomAD v4
6g.107634719G>ACA451581636SOBPc.1875G>A (p.Arg625=)
c.2028G>A (p.Arg676=)
c.1932G>A (p.Arg644=)
c.1914G>A (p.Arg638=)
c.1287G>A (p.Arg429=)
c.1098G>A (p.Arg366=)
c.1428G>A (p.Arg476=)
 gnomAD v4
6g.107634719G>CCA451581637SOBPc.1875G>C (p.Arg625=)
c.2028G>C (p.Arg676=)
c.1932G>C (p.Arg644=)
c.1914G>C (p.Arg638=)
c.1287G>C (p.Arg429=)
c.1098G>C (p.Arg366=)
c.1428G>C (p.Arg476=)
6g.107634719G>TCA451581638SOBPc.1875G>T (p.Arg625=)
c.2028G>T (p.Arg676=)
c.1932G>T (p.Arg644=)
c.1914G>T (p.Arg638=)
c.1287G>T (p.Arg429=)
c.1098G>T (p.Arg366=)
c.1428G>T (p.Arg476=)
 gnomAD v4
6g.107634720C>ACA365171464SOBPc.1876C>A (p.Arg626Ser)
c.2029C>A (p.Arg677Ser)
c.1933C>A (p.Arg645Ser)
c.1915C>A (p.Arg639Ser)
c.1288C>A (p.Arg430Ser)
c.1099C>A (p.Arg367Ser)
c.1429C>A (p.Arg477Ser)
 gnomAD v4
6g.107634720C=CA1653939160SOBPc.1876C= (p.Arg626=)
c.2029C= (p.Arg677=)
c.1933C= (p.Arg645=)
c.1915C= (p.Arg639=)
c.1288C= (p.Arg430=)
c.1099C= (p.Arg367=)
c.1429C= (p.Arg477=)
6g.107634720C>GCA145013845SOBPc.1876C>G (p.Arg626Gly)
c.2029C>G (p.Arg677Gly)
c.1933C>G (p.Arg645Gly)
c.1915C>G (p.Arg639Gly)
c.1288C>G (p.Arg430Gly)
c.1099C>G (p.Arg367Gly)
c.1429C>G (p.Arg477Gly)
 dbSNP gnomAD v4
6g.107634720C>TCA365171465SOBPc.1876C>T (p.Arg626Cys)
c.2029C>T (p.Arg677Cys)
c.1933C>T (p.Arg645Cys)
c.1915C>T (p.Arg639Cys)
c.1288C>T (p.Arg430Cys)
c.1099C>T (p.Arg367Cys)
c.1429C>T (p.Arg477Cys)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
6g.107634721G>ACA365171468SOBPc.1877G>A (p.Arg626His)
c.2030G>A (p.Arg677His)
c.1934G>A (p.Arg645His)
c.1916G>A (p.Arg639His)
c.1289G>A (p.Arg430His)
c.1100G>A (p.Arg367His)
c.1430G>A (p.Arg477His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634721G>CCA365171467SOBPc.1877G>C (p.Arg626Pro)
c.2030G>C (p.Arg677Pro)
c.1934G>C (p.Arg645Pro)
c.1916G>C (p.Arg639Pro)
c.1289G>C (p.Arg430Pro)
c.1100G>C (p.Arg367Pro)
c.1430G>C (p.Arg477Pro)
6g.107634721G=CA1653939166SOBPc.1877G= (p.Arg626=)
c.2030G= (p.Arg677=)
c.1934G= (p.Arg645=)
c.1916G= (p.Arg639=)
c.1289G= (p.Arg430=)
c.1100G= (p.Arg367=)
c.1430G= (p.Arg477=)
6g.107634721G>TCA365171466SOBPc.1877G>T (p.Arg626Leu)
c.2030G>T (p.Arg677Leu)
c.1934G>T (p.Arg645Leu)
c.1916G>T (p.Arg639Leu)
c.1289G>T (p.Arg430Leu)
c.1100G>T (p.Arg367Leu)
c.1430G>T (p.Arg477Leu)
 gnomAD v4
6g.107634725_107634751delCA2679876749SOBPc.1881_1907del (p.Gly628_Ala636del)
c.2034_2060del (p.Gly679_Ala687del)
c.1938_1964del (p.Gly647_Ala655del)
c.1920_1946del (p.Gly641_Ala649del)
c.1293_1319del (p.Gly432_Ala440del)
c.1104_1130del (p.Gly369_Ala377del)
c.1434_1460del (p.Gly479_Ala487del)
 gnomAD v4
6g.107634722C>ACA451581641SOBPc.1878C>A (p.Arg626=)
c.2031C>A (p.Arg677=)
c.1935C>A (p.Arg645=)
c.1917C>A (p.Arg639=)
c.1290C>A (p.Arg430=)
c.1101C>A (p.Arg367=)
c.1431C>A (p.Arg477=)
 dbSNP gnomAD v4
6g.107634722C=CA1653939171SOBPc.1878C= (p.Arg626=)
c.2031C= (p.Arg677=)
c.1935C= (p.Arg645=)
c.1917C= (p.Arg639=)
c.1290C= (p.Arg430=)
c.1101C= (p.Arg367=)
c.1431C= (p.Arg477=)
6g.107634722C>GCA451581642SOBPc.1878C>G (p.Arg626=)
c.2031C>G (p.Arg677=)
c.1935C>G (p.Arg645=)
c.1917C>G (p.Arg639=)
c.1290C>G (p.Arg430=)
c.1101C>G (p.Arg367=)
c.1431C>G (p.Arg477=)
 gnomAD v4
6g.107634722C>TCA451581643SOBPc.1878C>T (p.Arg626=)
c.2031C>T (p.Arg677=)
c.1935C>T (p.Arg645=)
c.1917C>T (p.Arg639=)
c.1290C>T (p.Arg430=)
c.1101C>T (p.Arg367=)
c.1431C>T (p.Arg477=)
 gnomAD v4
6g.107634722_107634726delinsCGCCGCA1653939173SOBPc.1878_1882delinsCGCCG (p.Arg626=)
c.2031_2035delinsCGCCG (p.Arg677=)
c.1935_1939delinsCGCCG (p.Arg645=)
c.1917_1921delinsCGCCG (p.Arg639=)
c.1290_1294delinsCGCCG (p.Arg430=)
c.1101_1105delinsCGCCG (p.Arg367=)
c.1431_1435delinsCGCCG (p.Arg477=)
6g.107634723G>ACA365171469SOBPc.1879G>A (p.Ala627Thr)
c.2032G>A (p.Ala678Thr)
c.1936G>A (p.Ala646Thr)
c.1918G>A (p.Ala640Thr)
c.1291G>A (p.Ala431Thr)
c.1102G>A (p.Ala368Thr)
c.1432G>A (p.Ala478Thr)
 gnomAD v4
6g.107634723G>CCA365171471SOBPc.1879G>C (p.Ala627Pro)
c.2032G>C (p.Ala678Pro)
c.1936G>C (p.Ala646Pro)
c.1918G>C (p.Ala640Pro)
c.1291G>C (p.Ala431Pro)
c.1102G>C (p.Ala368Pro)
c.1432G>C (p.Ala478Pro)
 gnomAD v4
6g.107634723G=CA1653939177SOBPc.1879G= (p.Ala627=)
c.2032G= (p.Ala678=)
c.1936G= (p.Ala646=)
c.1918G= (p.Ala640=)
c.1291G= (p.Ala431=)
c.1102G= (p.Ala368=)
c.1432G= (p.Ala478=)
6g.107634723G>TCA365171470SOBPc.1879G>T (p.Ala627Ser)
c.2032G>T (p.Ala678Ser)
c.1936G>T (p.Ala646Ser)
c.1918G>T (p.Ala640Ser)
c.1291G>T (p.Ala431Ser)
c.1102G>T (p.Ala368Ser)
c.1432G>T (p.Ala478Ser)
 dbSNP gnomAD v3 gnomAD v4
6g.107634725_107634728delCA569564372SOBPc.1881_1884del (p.Gly628AlafsTer28)
c.2034_2037del (p.Gly679AlafsTer28)
c.1938_1941del (p.Gly647AlafsTer28)
c.1920_1923del (p.Gly641AlafsTer28)
c.1293_1296del (p.Gly432AlafsTer28)
c.1104_1107del (p.Gly369AlafsTer28)
c.1434_1437del (p.Gly479AlafsTer28)
 dbSNP gnomAD v2 gnomAD v4
6g.107634724C>ACA365171472SOBPc.1880C>A (p.Ala627Asp)
c.2033C>A (p.Ala678Asp)
c.1937C>A (p.Ala646Asp)
c.1919C>A (p.Ala640Asp)
c.1292C>A (p.Ala431Asp)
c.1103C>A (p.Ala368Asp)
c.1433C>A (p.Ala478Asp)
 gnomAD v4
6g.107634724C=CA1653939180SOBPc.1880C= (p.Ala627=)
c.2033C= (p.Ala678=)
c.1937C= (p.Ala646=)
c.1919C= (p.Ala640=)
c.1292C= (p.Ala431=)
c.1103C= (p.Ala368=)
c.1433C= (p.Ala478=)
6g.107634724C>GCA365171473SOBPc.1880C>G (p.Ala627Gly)
c.2033C>G (p.Ala678Gly)
c.1937C>G (p.Ala646Gly)
c.1919C>G (p.Ala640Gly)
c.1292C>G (p.Ala431Gly)
c.1103C>G (p.Ala368Gly)
c.1433C>G (p.Ala478Gly)
6g.107634724C>TCA365171474SOBPc.1880C>T (p.Ala627Val)
c.2033C>T (p.Ala678Val)
c.1937C>T (p.Ala646Val)
c.1919C>T (p.Ala640Val)
c.1292C>T (p.Ala431Val)
c.1103C>T (p.Ala368Val)
c.1433C>T (p.Ala478Val)
 dbSNP gnomAD v3 gnomAD v4
6g.107634725C>ACA451581649SOBPc.1881C>A (p.Ala627=)
c.2034C>A (p.Ala678=)
c.1938C>A (p.Ala646=)
c.1920C>A (p.Ala640=)
c.1293C>A (p.Ala431=)
c.1104C>A (p.Ala368=)
c.1434C>A (p.Ala478=)
 gnomAD v4
6g.107634725C=CA1653939182SOBPc.1881C= (p.Ala627=)
c.2034C= (p.Ala678=)
c.1938C= (p.Ala646=)
c.1920C= (p.Ala640=)
c.1293C= (p.Ala431=)
c.1104C= (p.Ala368=)
c.1434C= (p.Ala478=)
6g.107634725C>GCA451581653SOBPc.1881C>G (p.Ala627=)
c.2034C>G (p.Ala678=)
c.1938C>G (p.Ala646=)
c.1920C>G (p.Ala640=)
c.1293C>G (p.Ala431=)
c.1104C>G (p.Ala368=)
c.1434C>G (p.Ala478=)
 gnomAD v4
6g.107634725C>TCA451581651SOBPc.1881C>T (p.Ala627=)
c.2034C>T (p.Ala678=)
c.1938C>T (p.Ala646=)
c.1920C>T (p.Ala640=)
c.1293C>T (p.Ala431=)
c.1104C>T (p.Ala368=)
c.1434C>T (p.Ala478=)
 dbSNP gnomAD v3 gnomAD v4
6g.107634726G>ACA365171475SOBPc.1882G>A (p.Gly628Ser)
c.2035G>A (p.Gly679Ser)
c.1939G>A (p.Gly647Ser)
c.1921G>A (p.Gly641Ser)
c.1294G>A (p.Gly432Ser)
c.1105G>A (p.Gly369Ser)
c.1435G>A (p.Gly479Ser)
 gnomAD v4 COSMIC
6g.107634726G>CCA365171476SOBPc.1882G>C (p.Gly628Arg)
c.2035G>C (p.Gly679Arg)
c.1939G>C (p.Gly647Arg)
c.1921G>C (p.Gly641Arg)
c.1294G>C (p.Gly432Arg)
c.1105G>C (p.Gly369Arg)
c.1435G>C (p.Gly479Arg)
 gnomAD v4
6g.107634726G>TCA365171477SOBPc.1882G>T (p.Gly628Cys)
c.2035G>T (p.Gly679Cys)
c.1939G>T (p.Gly647Cys)
c.1921G>T (p.Gly641Cys)
c.1294G>T (p.Gly432Cys)
c.1105G>T (p.Gly369Cys)
c.1435G>T (p.Gly479Cys)
 gnomAD v4
6g.107634726_107634750delCA2509410972SOBPc.1882_1906del (p.Gly628ArgfsTer21)
c.2035_2059del (p.Gly679ArgfsTer21)
c.1939_1963del (p.Gly647ArgfsTer21)
c.1921_1945del (p.Gly641ArgfsTer21)
c.1294_1318del (p.Gly432ArgfsTer21)
c.1105_1129del (p.Gly369ArgfsTer21)
c.1435_1459del (p.Gly479ArgfsTer21)
6g.107634727G>ACA3946605SOBPc.1883G>A (p.Gly628Asp)
c.2036G>A (p.Gly679Asp)
c.1940G>A (p.Gly647Asp)
c.1922G>A (p.Gly641Asp)
c.1295G>A (p.Gly432Asp)
c.1106G>A (p.Gly369Asp)
c.1436G>A (p.Gly479Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.107634727G>CCA365171478SOBPc.1883G>C (p.Gly628Ala)
c.2036G>C (p.Gly679Ala)
c.1940G>C (p.Gly647Ala)
c.1922G>C (p.Gly641Ala)
c.1295G>C (p.Gly432Ala)
c.1106G>C (p.Gly369Ala)
c.1436G>C (p.Gly479Ala)
 gnomAD v4
6g.107634727G=CA1653939184SOBPc.1883G= (p.Gly628=)
c.2036G= (p.Gly679=)
c.1940G= (p.Gly647=)
c.1922G= (p.Gly641=)
c.1295G= (p.Gly432=)
c.1106G= (p.Gly369=)
c.1436G= (p.Gly479=)
6g.107634727G>TCA365171479SOBPc.1883G>T (p.Gly628Val)
c.2036G>T (p.Gly679Val)
c.1940G>T (p.Gly647Val)
c.1922G>T (p.Gly641Val)
c.1295G>T (p.Gly432Val)
c.1106G>T (p.Gly369Val)
c.1436G>T (p.Gly479Val)
 gnomAD v4
6g.107634728C>ACA451581659SOBPc.1884C>A (p.Gly628=)
c.2037C>A (p.Gly679=)
c.1941C>A (p.Gly647=)
c.1923C>A (p.Gly641=)
c.1296C>A (p.Gly432=)
c.1107C>A (p.Gly369=)
c.1437C>A (p.Gly479=)
 dbSNP gnomAD v2 gnomAD v4
6g.107634728C=CA1653939190SOBPc.1884C= (p.Gly628=)
c.2037C= (p.Gly679=)
c.1941C= (p.Gly647=)
c.1923C= (p.Gly641=)
c.1296C= (p.Gly432=)
c.1107C= (p.Gly369=)
c.1437C= (p.Gly479=)
6g.107634728C>GCA451581660SOBPc.1884C>G (p.Gly628=)
c.2037C>G (p.Gly679=)
c.1941C>G (p.Gly647=)
c.1923C>G (p.Gly641=)
c.1296C>G (p.Gly432=)
c.1107C>G (p.Gly369=)
c.1437C>G (p.Gly479=)
 gnomAD v4
6g.107634728C>TCA3946606SOBPc.1884C>T (p.Gly628=)
c.2037C>T (p.Gly679=)
c.1941C>T (p.Gly647=)
c.1923C>T (p.Gly641=)
c.1296C>T (p.Gly432=)
c.1107C>T (p.Gly369=)
c.1437C>T (p.Gly479=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107634729A=CA1653939193SOBPc.1885A= (p.Ser629=)
c.2038A= (p.Ser680=)
c.1942A= (p.Ser648=)
c.1924A= (p.Ser642=)
c.1297A= (p.Ser433=)
c.1108A= (p.Ser370=)
c.1438A= (p.Ser480=)
6g.107634729A>CCA365171480SOBPc.1885A>C (p.Ser629Arg)
c.2038A>C (p.Ser680Arg)
c.1942A>C (p.Ser648Arg)
c.1924A>C (p.Ser642Arg)
c.1297A>C (p.Ser433Arg)
c.1108A>C (p.Ser370Arg)
c.1438A>C (p.Ser480Arg)
6g.107634729A>GCA365171481SOBPc.1885A>G (p.Ser629Gly)
c.2038A>G (p.Ser680Gly)
c.1942A>G (p.Ser648Gly)
c.1924A>G (p.Ser642Gly)
c.1297A>G (p.Ser433Gly)
c.1108A>G (p.Ser370Gly)
c.1438A>G (p.Ser480Gly)
 dbSNP gnomAD v4
6g.107634729A>TCA365171482SOBPc.1885A>T (p.Ser629Cys)
c.2038A>T (p.Ser680Cys)
c.1942A>T (p.Ser648Cys)
c.1924A>T (p.Ser642Cys)
c.1297A>T (p.Ser433Cys)
c.1108A>T (p.Ser370Cys)
c.1438A>T (p.Ser480Cys)
6g.107634729_107634737dupCA2679876750SOBPc.1885_1893dup (p.Pro631_Gly632insSerProPro)
c.2038_2046dup (p.Pro682_Gly683insSerProPro)
c.1942_1950dup (p.Pro650_Gly651insSerProPro)
c.1924_1932dup (p.Pro644_Gly645insSerProPro)
c.1297_1305dup (p.Pro435_Gly436insSerProPro)
c.1108_1116dup (p.Pro372_Gly373insSerProPro)
c.1438_1446dup (p.Pro482_Gly483insSerProPro)
 dbSNP gnomAD v4
6g.107634729_107634738delinsAGCCCCCCGGCA1653939192SOBPc.1885_1894delinsAGCCCCCCGG (p.Ser629=)
c.2038_2047delinsAGCCCCCCGG (p.Ser680=)
c.1942_1951delinsAGCCCCCCGG (p.Ser648=)
c.1924_1933delinsAGCCCCCCGG (p.Ser642=)
c.1297_1306delinsAGCCCCCCGG (p.Ser433=)
c.1108_1117delinsAGCCCCCCGG (p.Ser370=)
c.1438_1447delinsAGCCCCCCGG (p.Ser480=)
6g.107634730G>ACA365171485SOBPc.1886G>A (p.Ser629Asn)
c.2039G>A (p.Ser680Asn)
c.1943G>A (p.Ser648Asn)
c.1925G>A (p.Ser642Asn)
c.1298G>A (p.Ser433Asn)
c.1109G>A (p.Ser370Asn)
c.1439G>A (p.Ser480Asn)
 dbSNP gnomAD v3 gnomAD v4
6g.107634730G>CCA365171484SOBPc.1886G>C (p.Ser629Thr)
c.2039G>C (p.Ser680Thr)
c.1943G>C (p.Ser648Thr)
c.1925G>C (p.Ser642Thr)
c.1298G>C (p.Ser433Thr)
c.1109G>C (p.Ser370Thr)
c.1439G>C (p.Ser480Thr)
 gnomAD v4
6g.107634730G=CA1653939200SOBPc.1886G= (p.Ser629=)
c.2039G= (p.Ser680=)
c.1943G= (p.Ser648=)
c.1925G= (p.Ser642=)
c.1298G= (p.Ser433=)
c.1109G= (p.Ser370=)
c.1439G= (p.Ser480=)
6g.107634730G>TCA365171483SOBPc.1886G>T (p.Ser629Ile)
c.2039G>T (p.Ser680Ile)
c.1943G>T (p.Ser648Ile)
c.1925G>T (p.Ser642Ile)
c.1298G>T (p.Ser433Ile)
c.1109G>T (p.Ser370Ile)
c.1439G>T (p.Ser480Ile)
 gnomAD v4
6g.107634741_107634749dupCA3946607SOBPc.1897_1905dup (p.Gly635_Ala636insProProGly)
c.2050_2058dup (p.Gly686_Ala687insProProGly)
c.1954_1962dup (p.Gly654_Ala655insProProGly)
c.1936_1944dup (p.Gly648_Ala649insProProGly)
c.1309_1317dup (p.Gly439_Ala440insProProGly)
c.1120_1128dup (p.Gly376_Ala377insProProGly)
c.1450_1458dup (p.Gly486_Ala487insProProGly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107634741_107634749delCA3946608SOBPc.1897_1905del (p.Pro633_Gly635del)
c.2050_2058del (p.Pro684_Gly686del)
c.1954_1962del (p.Pro652_Gly654del)
c.1936_1944del (p.Pro646_Gly648del)
c.1309_1317del (p.Pro437_Gly439del)
c.1120_1128del (p.Pro374_Gly376del)
c.1450_1458del (p.Pro484_Gly486del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107634731C>ACA145013872SOBPc.1887C>A (p.Ser629Arg)
c.2040C>A (p.Ser680Arg)
c.1944C>A (p.Ser648Arg)
c.1926C>A (p.Ser642Arg)
c.1299C>A (p.Ser433Arg)
c.1110C>A (p.Ser370Arg)
c.1440C>A (p.Ser480Arg)
 dbSNP gnomAD v2 gnomAD v4
6g.107634731C=CA1653939202SOBPc.1887C= (p.Ser629=)
c.2040C= (p.Ser680=)
c.1944C= (p.Ser648=)
c.1926C= (p.Ser642=)
c.1299C= (p.Ser433=)
c.1110C= (p.Ser370=)
c.1440C= (p.Ser480=)
6g.107634731C>GCA365171486SOBPc.1887C>G (p.Ser629Arg)
c.2040C>G (p.Ser680Arg)
c.1944C>G (p.Ser648Arg)
c.1926C>G (p.Ser642Arg)
c.1299C>G (p.Ser433Arg)
c.1110C>G (p.Ser370Arg)
c.1440C>G (p.Ser480Arg)
 dbSNP gnomAD v4
6g.107634731C>TCA451581677SOBPc.1887C>T (p.Ser629=)
c.2040C>T (p.Ser680=)
c.1944C>T (p.Ser648=)
c.1926C>T (p.Ser642=)
c.1299C>T (p.Ser433=)
c.1110C>T (p.Ser370=)
c.1440C>T (p.Ser480=)
 gnomAD v4
6g.107634736dupCA569564373SOBPc.1892dup (p.Ala636ArgfsTer?)
c.2045dup (p.Ala687ArgfsTer?)
c.1949dup (p.Ala655ArgfsTer?)
c.1931dup (p.Ala649ArgfsTer?)
c.1304dup (p.Ala440ArgfsTer?)
c.1115dup (p.Ala377ArgfsTer?)
c.1445dup (p.Ala487ArgfsTer?)
 gnomAD v2 gnomAD v4
6g.107634735_107634736dupCA2772523049SOBPc.1891_1892dup (p.Gly632ArgfsTer26)
c.2044_2045dup (p.Gly683ArgfsTer26)
c.1948_1949dup (p.Gly651ArgfsTer26)
c.1930_1931dup (p.Gly645ArgfsTer26)
c.1303_1304dup (p.Gly436ArgfsTer26)
c.1114_1115dup (p.Gly373ArgfsTer26)
c.1444_1445dup (p.Gly483ArgfsTer26)
6g.107634736delCA569564374SOBPc.1892del (p.Pro631ArgfsTer26)
c.2045del (p.Pro682ArgfsTer26)
c.1949del (p.Pro650ArgfsTer26)
c.1931del (p.Pro644ArgfsTer26)
c.1304del (p.Pro435ArgfsTer26)
c.1115del (p.Pro372ArgfsTer26)
c.1445del (p.Pro482ArgfsTer26)
 gnomAD v2 gnomAD v4
6g.107634735_107634736delCA2679876751SOBPc.1891_1892del (p.Pro631GlyfsTer?)
c.2044_2045del (p.Pro682GlyfsTer?)
c.1948_1949del (p.Pro650GlyfsTer?)
c.1930_1931del (p.Pro644GlyfsTer?)
c.1303_1304del (p.Pro435GlyfsTer?)
c.1114_1115del (p.Pro372GlyfsTer?)
c.1444_1445del (p.Pro482GlyfsTer?)
 gnomAD v4
6g.107634736_107634745delCA2679876752SOBPc.1892_1901del (p.Pro631ArgfsTer23)
c.2045_2054del (p.Pro682ArgfsTer23)
c.1949_1958del (p.Pro650ArgfsTer23)
c.1931_1940del (p.Pro644ArgfsTer23)
c.1304_1313del (p.Pro435ArgfsTer23)
c.1115_1124del (p.Pro372ArgfsTer23)
c.1445_1454del (p.Pro482ArgfsTer23)
 gnomAD v4
6g.107634732C>ACA365171487SOBPc.1888C>A (p.Pro630Thr)
c.2041C>A (p.Pro681Thr)
c.1945C>A (p.Pro649Thr)
c.1927C>A (p.Pro643Thr)
c.1300C>A (p.Pro434Thr)
c.1111C>A (p.Pro371Thr)
c.1441C>A (p.Pro481Thr)
 dbSNP gnomAD v3 gnomAD v4
6g.107634732C=CA1653939207SOBPc.1888C= (p.Pro630=)
c.2041C= (p.Pro681=)
c.1945C= (p.Pro649=)
c.1927C= (p.Pro643=)
c.1300C= (p.Pro434=)
c.1111C= (p.Pro371=)
c.1441C= (p.Pro481=)
6g.107634732C>GCA365171488SOBPc.1888C>G (p.Pro630Ala)
c.2041C>G (p.Pro681Ala)
c.1945C>G (p.Pro649Ala)
c.1927C>G (p.Pro643Ala)
c.1300C>G (p.Pro434Ala)
c.1111C>G (p.Pro371Ala)
c.1441C>G (p.Pro481Ala)
6g.107634732C>TCA145013876SOBPc.1888C>T (p.Pro630Ser)
c.2041C>T (p.Pro681Ser)
c.1945C>T (p.Pro649Ser)
c.1927C>T (p.Pro643Ser)
c.1300C>T (p.Pro434Ser)
c.1111C>T (p.Pro371Ser)
c.1441C>T (p.Pro481Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634733C>ACA365171489SOBPc.1889C>A (p.Pro630His)
c.2042C>A (p.Pro681His)
c.1946C>A (p.Pro649His)
c.1928C>A (p.Pro643His)
c.1301C>A (p.Pro434His)
c.1112C>A (p.Pro371His)
c.1442C>A (p.Pro481His)
 gnomAD v4
6g.107634733C>GCA365171490SOBPc.1889C>G (p.Pro630Arg)
c.2042C>G (p.Pro681Arg)
c.1946C>G (p.Pro649Arg)
c.1928C>G (p.Pro643Arg)
c.1301C>G (p.Pro434Arg)
c.1112C>G (p.Pro371Arg)
c.1442C>G (p.Pro481Arg)
6g.107634733C>TCA365171491SOBPc.1889C>T (p.Pro630Leu)
c.2042C>T (p.Pro681Leu)
c.1946C>T (p.Pro649Leu)
c.1928C>T (p.Pro643Leu)
c.1301C>T (p.Pro434Leu)
c.1112C>T (p.Pro371Leu)
c.1442C>T (p.Pro481Leu)
 gnomAD v4
6g.107634734C>ACA451581686SOBPc.1890C>A (p.Pro630=)
c.2043C>A (p.Pro681=)
c.1947C>A (p.Pro649=)
c.1929C>A (p.Pro643=)
c.1302C>A (p.Pro434=)
c.1113C>A (p.Pro371=)
c.1443C>A (p.Pro481=)
 gnomAD v4
6g.107634734C=CA1653939211SOBPc.1890C= (p.Pro630=)
c.2043C= (p.Pro681=)
c.1947C= (p.Pro649=)
c.1929C= (p.Pro643=)
c.1302C= (p.Pro434=)
c.1113C= (p.Pro371=)
c.1443C= (p.Pro481=)
6g.107634734C>GCA451581684SOBPc.1890C>G (p.Pro630=)
c.2043C>G (p.Pro681=)
c.1947C>G (p.Pro649=)
c.1929C>G (p.Pro643=)
c.1302C>G (p.Pro434=)
c.1113C>G (p.Pro371=)
c.1443C>G (p.Pro481=)
6g.107634734C>TCA451581683SOBPc.1890C>T (p.Pro630=)
c.2043C>T (p.Pro681=)
c.1947C>T (p.Pro649=)
c.1929C>T (p.Pro643=)
c.1302C>T (p.Pro434=)
c.1113C>T (p.Pro371=)
c.1443C>T (p.Pro481=)
 dbSNP gnomAD v2 gnomAD v4
6g.107634735C>ACA365171494SOBPc.1891C>A (p.Pro631Thr)
c.2044C>A (p.Pro682Thr)
c.1948C>A (p.Pro650Thr)
c.1930C>A (p.Pro644Thr)
c.1303C>A (p.Pro435Thr)
c.1114C>A (p.Pro372Thr)
c.1444C>A (p.Pro482Thr)
 gnomAD v4
6g.107634735C=CA1653939213SOBPc.1891C= (p.Pro631=)
c.2044C= (p.Pro682=)
c.1948C= (p.Pro650=)
c.1930C= (p.Pro644=)
c.1303C= (p.Pro435=)
c.1114C= (p.Pro372=)
c.1444C= (p.Pro482=)
6g.107634735C>GCA365171493SOBPc.1891C>G (p.Pro631Ala)
c.2044C>G (p.Pro682Ala)
c.1948C>G (p.Pro650Ala)
c.1930C>G (p.Pro644Ala)
c.1303C>G (p.Pro435Ala)
c.1114C>G (p.Pro372Ala)
c.1444C>G (p.Pro482Ala)
6g.107634735C>TCA365171492SOBPc.1891C>T (p.Pro631Ser)
c.2044C>T (p.Pro682Ser)
c.1948C>T (p.Pro650Ser)
c.1930C>T (p.Pro644Ser)
c.1303C>T (p.Pro435Ser)
c.1114C>T (p.Pro372Ser)
c.1444C>T (p.Pro482Ser)
 dbSNP gnomAD v2 gnomAD v4
6g.107634736C>ACA365171497SOBPc.1892C>A (p.Pro631Gln)
c.2045C>A (p.Pro682Gln)
c.1949C>A (p.Pro650Gln)
c.1931C>A (p.Pro644Gln)
c.1304C>A (p.Pro435Gln)
c.1115C>A (p.Pro372Gln)
c.1445C>A (p.Pro482Gln)
 gnomAD v4
6g.107634736C=CA1653939215SOBPc.1892C= (p.Pro631=)
c.2045C= (p.Pro682=)
c.1949C= (p.Pro650=)
c.1931C= (p.Pro644=)
c.1304C= (p.Pro435=)
c.1115C= (p.Pro372=)
c.1445C= (p.Pro482=)
6g.107634736C>GCA365171495SOBPc.1892C>G (p.Pro631Arg)
c.2045C>G (p.Pro682Arg)
c.1949C>G (p.Pro650Arg)
c.1931C>G (p.Pro644Arg)
c.1304C>G (p.Pro435Arg)
c.1115C>G (p.Pro372Arg)
c.1445C>G (p.Pro482Arg)
 dbSNP gnomAD v4
6g.107634736C>TCA365171496SOBPc.1892C>T (p.Pro631Leu)
c.2045C>T (p.Pro682Leu)
c.1949C>T (p.Pro650Leu)
c.1931C>T (p.Pro644Leu)
c.1304C>T (p.Pro435Leu)
c.1115C>T (p.Pro372Leu)
c.1445C>T (p.Pro482Leu)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
6g.107634737G>ACA451581698SOBPc.1893G>A (p.Pro631=)
c.2046G>A (p.Pro682=)
c.1950G>A (p.Pro650=)
c.1932G>A (p.Pro644=)
c.1305G>A (p.Pro435=)
c.1116G>A (p.Pro372=)
c.1446G>A (p.Pro482=)
 ClinVar dbSNP gnomAD v4
6g.107634737G>CCA451581699SOBPc.1893G>C (p.Pro631=)
c.2046G>C (p.Pro682=)
c.1950G>C (p.Pro650=)
c.1932G>C (p.Pro644=)
c.1305G>C (p.Pro435=)
c.1116G>C (p.Pro372=)
c.1446G>C (p.Pro482=)
 gnomAD v4
6g.107634737G=CA1653939217SOBPc.1893G= (p.Pro631=)
c.2046G= (p.Pro682=)
c.1950G= (p.Pro650=)
c.1932G= (p.Pro644=)
c.1305G= (p.Pro435=)
c.1116G= (p.Pro372=)
c.1446G= (p.Pro482=)
6g.107634737G>TCA451581700SOBPc.1893G>T (p.Pro631=)
c.2046G>T (p.Pro682=)
c.1950G>T (p.Pro650=)
c.1932G>T (p.Pro644=)
c.1305G>T (p.Pro435=)
c.1116G>T (p.Pro372=)
c.1446G>T (p.Pro482=)
 dbSNP gnomAD v4
6g.107634739delCA2679876753SOBPc.1895del (p.Gly632AlafsTer25)
c.2048del (p.Gly683AlafsTer25)
c.1952del (p.Gly651AlafsTer25)
c.1934del (p.Gly645AlafsTer25)
c.1307del (p.Gly436AlafsTer25)
c.1118del (p.Gly373AlafsTer25)
c.1448del (p.Gly483AlafsTer25)
 gnomAD v4
6g.107634738G>ACA365171498SOBPc.1894G>A (p.Gly632Ser)
c.2047G>A (p.Gly683Ser)
c.1951G>A (p.Gly651Ser)
c.1933G>A (p.Gly645Ser)
c.1306G>A (p.Gly436Ser)
c.1117G>A (p.Gly373Ser)
c.1447G>A (p.Gly483Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634738G>CCA365171499SOBPc.1894G>C (p.Gly632Arg)
c.2047G>C (p.Gly683Arg)
c.1951G>C (p.Gly651Arg)
c.1933G>C (p.Gly645Arg)
c.1306G>C (p.Gly436Arg)
c.1117G>C (p.Gly373Arg)
c.1447G>C (p.Gly483Arg)
6g.107634738G=CA1653939219SOBPc.1894G= (p.Gly632=)
c.2047G= (p.Gly683=)
c.1951G= (p.Gly651=)
c.1933G= (p.Gly645=)
c.1306G= (p.Gly436=)
c.1117G= (p.Gly373=)
c.1447G= (p.Gly483=)
6g.107634738G>TCA365171500SOBPc.1894G>T (p.Gly632Cys)
c.2047G>T (p.Gly683Cys)
c.1951G>T (p.Gly651Cys)
c.1933G>T (p.Gly645Cys)
c.1306G>T (p.Gly436Cys)
c.1117G>T (p.Gly373Cys)
c.1447G>T (p.Gly483Cys)
 gnomAD v4
6g.107634739G>ACA365171501SOBPc.1895G>A (p.Gly632Asp)
c.2048G>A (p.Gly683Asp)
c.1952G>A (p.Gly651Asp)
c.1934G>A (p.Gly645Asp)
c.1307G>A (p.Gly436Asp)
c.1118G>A (p.Gly373Asp)
c.1448G>A (p.Gly483Asp)
 dbSNP gnomAD v3 gnomAD v4
6g.107634739G>CCA365171502SOBPc.1895G>C (p.Gly632Ala)
c.2048G>C (p.Gly683Ala)
c.1952G>C (p.Gly651Ala)
c.1934G>C (p.Gly645Ala)
c.1307G>C (p.Gly436Ala)
c.1118G>C (p.Gly373Ala)
c.1448G>C (p.Gly483Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634739G=CA1653939222SOBPc.1895G= (p.Gly632=)
c.2048G= (p.Gly683=)
c.1952G= (p.Gly651=)
c.1934G= (p.Gly645=)
c.1307G= (p.Gly436=)
c.1118G= (p.Gly373=)
c.1448G= (p.Gly483=)
6g.107634739G>TCA365171503SOBPc.1895G>T (p.Gly632Val)
c.2048G>T (p.Gly683Val)
c.1952G>T (p.Gly651Val)
c.1934G>T (p.Gly645Val)
c.1307G>T (p.Gly436Val)
c.1118G>T (p.Gly373Val)
c.1448G>T (p.Gly483Val)
6g.107634739_107634745delinsGCCCCCCCA1653939224SOBPc.1895_1901delinsGCCCCCC (p.Gly632=)
c.2048_2054delinsGCCCCCC (p.Gly683=)
c.1952_1958delinsGCCCCCC (p.Gly651=)
c.1934_1940delinsGCCCCCC (p.Gly645=)
c.1307_1313delinsGCCCCCC (p.Gly436=)
c.1118_1124delinsGCCCCCC (p.Gly373=)
c.1448_1454delinsGCCCCCC (p.Gly483=)
6g.107634740C>ACA451581704SOBPc.1896C>A (p.Gly632=)
c.2049C>A (p.Gly683=)
c.1953C>A (p.Gly651=)
c.1935C>A (p.Gly645=)
c.1308C>A (p.Gly436=)
c.1119C>A (p.Gly373=)
c.1449C>A (p.Gly483=)
 gnomAD v4
6g.107634740C=CA1653939232SOBPc.1896C= (p.Gly632=)
c.2049C= (p.Gly683=)
c.1953C= (p.Gly651=)
c.1935C= (p.Gly645=)
c.1308C= (p.Gly436=)
c.1119C= (p.Gly373=)
c.1449C= (p.Gly483=)
6g.107634740C>GCA451581705SOBPc.1896C>G (p.Gly632=)
c.2049C>G (p.Gly683=)
c.1953C>G (p.Gly651=)
c.1935C>G (p.Gly645=)
c.1308C>G (p.Gly436=)
c.1119C>G (p.Gly373=)
c.1449C>G (p.Gly483=)
 gnomAD v4
6g.107634740C>TCA207649SOBPc.1896C>T (p.Gly632=)
c.2049C>T (p.Gly683=)
c.1953C>T (p.Gly651=)
c.1935C>T (p.Gly645=)
c.1308C>T (p.Gly436=)
c.1119C>T (p.Gly373=)
c.1449C>T (p.Gly483=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634740_107634745delCA917829048SOBPc.1896_1901del (p.Pro633_Pro634del)
c.2049_2054del (p.Pro684_Pro685del)
c.1953_1958del (p.Pro652_Pro653del)
c.1935_1940del (p.Pro646_Pro647del)
c.1308_1313del (p.Pro437_Pro438del)
c.1119_1124del (p.Pro374_Pro375del)
c.1449_1454del (p.Pro484_Pro485del)
 dbSNP gnomAD v4
6g.107634745dupCA569564376SOBPc.1901dup (p.Ala636ArgfsTer?)
c.2054dup (p.Ala687ArgfsTer?)
c.1958dup (p.Ala655ArgfsTer?)
c.1940dup (p.Ala649ArgfsTer?)
c.1313dup (p.Ala440ArgfsTer?)
c.1124dup (p.Ala377ArgfsTer?)
c.1454dup (p.Ala487ArgfsTer?)
 gnomAD v2 gnomAD v4
6g.107634744_107634745dupCA2772523061SOBPc.1900_1901dup (p.Gly635ArgfsTer23)
c.2053_2054dup (p.Gly686ArgfsTer23)
c.1957_1958dup (p.Gly654ArgfsTer23)
c.1939_1940dup (p.Gly648ArgfsTer23)
c.1312_1313dup (p.Gly439ArgfsTer23)
c.1123_1124dup (p.Gly376ArgfsTer23)
c.1453_1454dup (p.Gly486ArgfsTer23)
6g.107634745delCA569564375SOBPc.1901del (p.Pro634ArgfsTer23)
c.2054del (p.Pro685ArgfsTer23)
c.1958del (p.Pro653ArgfsTer23)
c.1940del (p.Pro647ArgfsTer23)
c.1313del (p.Pro438ArgfsTer23)
c.1124del (p.Pro375ArgfsTer23)
c.1454del (p.Pro485ArgfsTer23)
 gnomAD v2 gnomAD v4
6g.107634741C>ACA3946609SOBPc.1897C>A (p.Pro633Thr)
c.2050C>A (p.Pro684Thr)
c.1954C>A (p.Pro652Thr)
c.1936C>A (p.Pro646Thr)
c.1309C>A (p.Pro437Thr)
c.1120C>A (p.Pro374Thr)
c.1450C>A (p.Pro484Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.107634741C=CA1653939237SOBPc.1897C= (p.Pro633=)
c.2050C= (p.Pro684=)
c.1954C= (p.Pro652=)
c.1936C= (p.Pro646=)
c.1309C= (p.Pro437=)
c.1120C= (p.Pro374=)
c.1450C= (p.Pro484=)
6g.107634741C>GCA365171504SOBPc.1897C>G (p.Pro633Ala)
c.2050C>G (p.Pro684Ala)
c.1954C>G (p.Pro652Ala)
c.1936C>G (p.Pro646Ala)
c.1309C>G (p.Pro437Ala)
c.1120C>G (p.Pro374Ala)
c.1450C>G (p.Pro484Ala)
6g.107634741C>TCA145013888SOBPc.1897C>T (p.Pro633Ser)
c.2050C>T (p.Pro684Ser)
c.1954C>T (p.Pro652Ser)
c.1936C>T (p.Pro646Ser)
c.1309C>T (p.Pro437Ser)
c.1120C>T (p.Pro374Ser)
c.1450C>T (p.Pro484Ser)
 dbSNP gnomAD v2 gnomAD v4
6g.107634742C>ACA365171507SOBPc.1898C>A (p.Pro633His)
c.2051C>A (p.Pro684His)
c.1955C>A (p.Pro652His)
c.1937C>A (p.Pro646His)
c.1310C>A (p.Pro437His)
c.1121C>A (p.Pro374His)
c.1451C>A (p.Pro484His)
 gnomAD v4
6g.107634742C=CA1653939241SOBPc.1898C= (p.Pro633=)
c.2051C= (p.Pro684=)
c.1955C= (p.Pro652=)
c.1937C= (p.Pro646=)
c.1310C= (p.Pro437=)
c.1121C= (p.Pro374=)
c.1451C= (p.Pro484=)
6g.107634742C>GCA365171506SOBPc.1898C>G (p.Pro633Arg)
c.2051C>G (p.Pro684Arg)
c.1955C>G (p.Pro652Arg)
c.1937C>G (p.Pro646Arg)
c.1310C>G (p.Pro437Arg)
c.1121C>G (p.Pro374Arg)
c.1451C>G (p.Pro484Arg)
 gnomAD v4
6g.107634742C>TCA365171505SOBPc.1898C>T (p.Pro633Leu)
c.2051C>T (p.Pro684Leu)
c.1955C>T (p.Pro652Leu)
c.1937C>T (p.Pro646Leu)
c.1310C>T (p.Pro437Leu)
c.1121C>T (p.Pro374Leu)
c.1451C>T (p.Pro484Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634743_107634751delCA451581707SOBPc.1899_1907del (p.Pro634_Ala636del)
c.2052_2060del (p.Pro685_Ala687del)
c.1956_1964del (p.Pro653_Ala655del)
c.1938_1946del (p.Pro647_Ala649del)
c.1311_1319del (p.Pro438_Ala440del)
c.1122_1130del (p.Pro375_Ala377del)
c.1452_1460del (p.Pro485_Ala487del)
6g.107634743C>ACA451581709SOBPc.1899C>A (p.Pro633=)
c.2052C>A (p.Pro684=)
c.1956C>A (p.Pro652=)
c.1938C>A (p.Pro646=)
c.1311C>A (p.Pro437=)
c.1122C>A (p.Pro374=)
c.1452C>A (p.Pro484=)
 gnomAD v4
6g.107634743C=CA1653939243SOBPc.1899C= (p.Pro633=)
c.2052C= (p.Pro684=)
c.1956C= (p.Pro652=)
c.1938C= (p.Pro646=)
c.1311C= (p.Pro437=)
c.1122C= (p.Pro374=)
c.1452C= (p.Pro484=)
6g.107634743C>GCA451581711SOBPc.1899C>G (p.Pro633=)
c.2052C>G (p.Pro684=)
c.1956C>G (p.Pro652=)
c.1938C>G (p.Pro646=)
c.1311C>G (p.Pro437=)
c.1122C>G (p.Pro374=)
c.1452C>G (p.Pro484=)
 dbSNP gnomAD v4
6g.107634743C>TCA451581713SOBPc.1899C>T (p.Pro633=)
c.2052C>T (p.Pro684=)
c.1956C>T (p.Pro652=)
c.1938C>T (p.Pro646=)
c.1311C>T (p.Pro437=)
c.1122C>T (p.Pro374=)
c.1452C>T (p.Pro484=)
 gnomAD v4
6g.107634744C>ACA365171508SOBPc.1900C>A (p.Pro634Thr)
c.2053C>A (p.Pro685Thr)
c.1957C>A (p.Pro653Thr)
c.1939C>A (p.Pro647Thr)
c.1312C>A (p.Pro438Thr)
c.1123C>A (p.Pro375Thr)
c.1453C>A (p.Pro485Thr)
 gnomAD v4
6g.107634744C=CA1653939246SOBPc.1900C= (p.Pro634=)
c.2053C= (p.Pro685=)
c.1957C= (p.Pro653=)
c.1939C= (p.Pro647=)
c.1312C= (p.Pro438=)
c.1123C= (p.Pro375=)
c.1453C= (p.Pro485=)
6g.107634744C>GCA365171509SOBPc.1900C>G (p.Pro634Ala)
c.2053C>G (p.Pro685Ala)
c.1957C>G (p.Pro653Ala)
c.1939C>G (p.Pro647Ala)
c.1312C>G (p.Pro438Ala)
c.1123C>G (p.Pro375Ala)
c.1453C>G (p.Pro485Ala)
 gnomAD v4
6g.107634744C>TCA365171510SOBPc.1900C>T (p.Pro634Ser)
c.2053C>T (p.Pro685Ser)
c.1957C>T (p.Pro653Ser)
c.1939C>T (p.Pro647Ser)
c.1312C>T (p.Pro438Ser)
c.1123C>T (p.Pro375Ser)
c.1453C>T (p.Pro485Ser)
 dbSNP gnomAD v3 gnomAD v4
6g.107634745C>ACA365171511SOBPc.1901C>A (p.Pro634Gln)
c.2054C>A (p.Pro685Gln)
c.1958C>A (p.Pro653Gln)
c.1940C>A (p.Pro647Gln)
c.1313C>A (p.Pro438Gln)
c.1124C>A (p.Pro375Gln)
c.1454C>A (p.Pro485Gln)
 gnomAD v4
6g.107634745C=CA1653939249SOBPc.1901C= (p.Pro634=)
c.2054C= (p.Pro685=)
c.1958C= (p.Pro653=)
c.1940C= (p.Pro647=)
c.1313C= (p.Pro438=)
c.1124C= (p.Pro375=)
c.1454C= (p.Pro485=)
6g.107634745C>GCA145013891SOBPc.1901C>G (p.Pro634Arg)
c.2054C>G (p.Pro685Arg)
c.1958C>G (p.Pro653Arg)
c.1940C>G (p.Pro647Arg)
c.1313C>G (p.Pro438Arg)
c.1124C>G (p.Pro375Arg)
c.1454C>G (p.Pro485Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634745C>TCA365171512SOBPc.1901C>T (p.Pro634Leu)
c.2054C>T (p.Pro685Leu)
c.1958C>T (p.Pro653Leu)
c.1940C>T (p.Pro647Leu)
c.1313C>T (p.Pro438Leu)
c.1124C>T (p.Pro375Leu)
c.1454C>T (p.Pro485Leu)
 dbSNP gnomAD v4
6g.107634746G>ACA451581716SOBPc.1902G>A (p.Pro634=)
c.2055G>A (p.Pro685=)
c.1959G>A (p.Pro653=)
c.1941G>A (p.Pro647=)
c.1314G>A (p.Pro438=)
c.1125G>A (p.Pro375=)
c.1455G>A (p.Pro485=)
 dbSNP gnomAD v4
6g.107634746G>CCA451581717SOBPc.1902G>C (p.Pro634=)
c.2055G>C (p.Pro685=)
c.1959G>C (p.Pro653=)
c.1941G>C (p.Pro647=)
c.1314G>C (p.Pro438=)
c.1125G>C (p.Pro375=)
c.1455G>C (p.Pro485=)
 dbSNP gnomAD v3 gnomAD v4
6g.107634746G=CA1653939252SOBPc.1902G= (p.Pro634=)
c.2055G= (p.Pro685=)
c.1959G= (p.Pro653=)
c.1941G= (p.Pro647=)
c.1314G= (p.Pro438=)
c.1125G= (p.Pro375=)
c.1455G= (p.Pro485=)
6g.107634746G>TCA451581719SOBPc.1902G>T (p.Pro634=)
c.2055G>T (p.Pro685=)
c.1959G>T (p.Pro653=)
c.1941G>T (p.Pro647=)
c.1314G>T (p.Pro438=)
c.1125G>T (p.Pro375=)
c.1455G>T (p.Pro485=)
 gnomAD v4
6g.107634748delCA2679876754SOBPc.1904del (p.Gly635AlafsTer22)
c.2057del (p.Gly686AlafsTer22)
c.1961del (p.Gly654AlafsTer22)
c.1943del (p.Gly648AlafsTer22)
c.1316del (p.Gly439AlafsTer22)
c.1127del (p.Gly376AlafsTer22)
c.1457del (p.Gly486AlafsTer22)
 gnomAD v4
6g.107634746_107634750delCA2679876755SOBPc.1902_1906del (p.Ala636ArgfsTer?)
c.2055_2059del (p.Ala687ArgfsTer?)
c.1959_1963del (p.Ala655ArgfsTer?)
c.1941_1945del (p.Ala649ArgfsTer?)
c.1314_1318del (p.Ala440ArgfsTer?)
c.1125_1129del (p.Ala377ArgfsTer?)
c.1455_1459del (p.Ala487ArgfsTer?)
 gnomAD v4
6g.107634746_107634755delinsGGGCGCGGGCCA1653939251SOBPc.1902_1911delinsGGGCGCGGGC (p.Pro634=)
c.2055_2064delinsGGGCGCGGGC (p.Pro685=)
c.1959_1968delinsGGGCGCGGGC (p.Pro653=)
c.1941_1950delinsGGGCGCGGGC (p.Pro647=)
c.1314_1323delinsGGGCGCGGGC (p.Pro438=)
c.1125_1134delinsGGGCGCGGGC (p.Pro375=)
c.1455_1464delinsGGGCGCGGGC (p.Pro485=)
6g.107634747G>ACA365171513SOBPc.1903G>A (p.Gly635Ser)
c.2056G>A (p.Gly686Ser)
c.1960G>A (p.Gly654Ser)
c.1942G>A (p.Gly648Ser)
c.1315G>A (p.Gly439Ser)
c.1126G>A (p.Gly376Ser)
c.1456G>A (p.Gly486Ser)
 dbSNP gnomAD v4
6g.107634747G>CCA365171514SOBPc.1903G>C (p.Gly635Arg)
c.2056G>C (p.Gly686Arg)
c.1960G>C (p.Gly654Arg)
c.1942G>C (p.Gly648Arg)
c.1315G>C (p.Gly439Arg)
c.1126G>C (p.Gly376Arg)
c.1456G>C (p.Gly486Arg)
 dbSNP gnomAD v4
6g.107634747G=CA1653939255SOBPc.1903G= (p.Gly635=)
c.2056G= (p.Gly686=)
c.1960G= (p.Gly654=)
c.1942G= (p.Gly648=)
c.1315G= (p.Gly439=)
c.1126G= (p.Gly376=)
c.1456G= (p.Gly486=)
6g.107634747G>TCA365171515SOBPc.1903G>T (p.Gly635Cys)
c.2056G>T (p.Gly686Cys)
c.1960G>T (p.Gly654Cys)
c.1942G>T (p.Gly648Cys)
c.1315G>T (p.Gly439Cys)
c.1126G>T (p.Gly376Cys)
c.1456G>T (p.Gly486Cys)
 dbSNP gnomAD v4
6g.107634750_107634758delCA917829049SOBPc.1906_1914del (p.Ala636_Gly638del)
c.2059_2067del (p.Ala687_Gly689del)
c.1963_1971del (p.Ala655_Gly657del)
c.1945_1953del (p.Ala649_Gly651del)
c.1318_1326del (p.Ala440_Gly442del)
c.1129_1137del (p.Ala377_Gly379del)
c.1459_1467del (p.Ala487_Gly489del)
 dbSNP gnomAD v4
6g.107634748G>ACA365171516SOBPc.1904G>A (p.Gly635Asp)
c.2057G>A (p.Gly686Asp)
c.1961G>A (p.Gly654Asp)
c.1943G>A (p.Gly648Asp)
c.1316G>A (p.Gly439Asp)
c.1127G>A (p.Gly376Asp)
c.1457G>A (p.Gly486Asp)
 gnomAD v4
6g.107634748G>CCA365171517SOBPc.1904G>C (p.Gly635Ala)
c.2057G>C (p.Gly686Ala)
c.1961G>C (p.Gly654Ala)
c.1943G>C (p.Gly648Ala)
c.1316G>C (p.Gly439Ala)
c.1127G>C (p.Gly376Ala)
c.1457G>C (p.Gly486Ala)
6g.107634748G>TCA365171518SOBPc.1904G>T (p.Gly635Val)
c.2057G>T (p.Gly686Val)
c.1961G>T (p.Gly654Val)
c.1943G>T (p.Gly648Val)
c.1316G>T (p.Gly439Val)
c.1127G>T (p.Gly376Val)
c.1457G>T (p.Gly486Val)
 gnomAD v4
6g.107634749C>ACA451581725SOBPc.1905C>A (p.Gly635=)
c.2058C>A (p.Gly686=)
c.1962C>A (p.Gly654=)
c.1944C>A (p.Gly648=)
c.1317C>A (p.Gly439=)
c.1128C>A (p.Gly376=)
c.1458C>A (p.Gly486=)
 gnomAD v4
6g.107634749C=CA1653939260SOBPc.1905C= (p.Gly635=)
c.2058C= (p.Gly686=)
c.1962C= (p.Gly654=)
c.1944C= (p.Gly648=)
c.1317C= (p.Gly439=)
c.1128C= (p.Gly376=)
c.1458C= (p.Gly486=)
6g.107634749C>GCA451581726SOBPc.1905C>G (p.Gly635=)
c.2058C>G (p.Gly686=)
c.1962C>G (p.Gly654=)
c.1944C>G (p.Gly648=)
c.1317C>G (p.Gly439=)
c.1128C>G (p.Gly376=)
c.1458C>G (p.Gly486=)
 dbSNP gnomAD v2 gnomAD v4
6g.107634749C>TCA231524SOBPc.1905C>T (p.Gly635=)
c.2058C>T (p.Gly686=)
c.1962C>T (p.Gly654=)
c.1944C>T (p.Gly648=)
c.1317C>T (p.Gly439=)
c.1128C>T (p.Gly376=)
c.1458C>T (p.Gly486=)
 ClinVar dbSNP gnomAD v4
6g.107634749_107634750insCCCCA2679876756SOBPc.1905_1906insCCC (p.Gly635_Ala636insPro)
c.2058_2059insCCC (p.Gly686_Ala687insPro)
c.1962_1963insCCC (p.Gly654_Ala655insPro)
c.1944_1945insCCC (p.Gly648_Ala649insPro)
c.1317_1318insCCC (p.Gly439_Ala440insPro)
c.1128_1129insCCC (p.Gly376_Ala377insPro)
c.1458_1459insCCC (p.Gly486_Ala487insPro)
 gnomAD v4
6g.107634750G>ACA365171520SOBPc.1906G>A (p.Ala636Thr)
c.2059G>A (p.Ala687Thr)
c.1963G>A (p.Ala655Thr)
c.1945G>A (p.Ala649Thr)
c.1318G>A (p.Ala440Thr)
c.1129G>A (p.Ala377Thr)
c.1459G>A (p.Ala487Thr)
 gnomAD v4
6g.107634750G>CCA365171521SOBPc.1906G>C (p.Ala636Pro)
c.2059G>C (p.Ala687Pro)
c.1963G>C (p.Ala655Pro)
c.1945G>C (p.Ala649Pro)
c.1318G>C (p.Ala440Pro)
c.1129G>C (p.Ala377Pro)
c.1459G>C (p.Ala487Pro)
 gnomAD v4 COSMIC
6g.107634750G>TCA365171519SOBPc.1906G>T (p.Ala636Ser)
c.2059G>T (p.Ala687Ser)
c.1963G>T (p.Ala655Ser)
c.1945G>T (p.Ala649Ser)
c.1318G>T (p.Ala440Ser)
c.1129G>T (p.Ala377Ser)
c.1459G>T (p.Ala487Ser)
 gnomAD v4
6g.107634751C>ACA365171522SOBPc.1907C>A (p.Ala636Glu)
c.2060C>A (p.Ala687Glu)
c.1964C>A (p.Ala655Glu)
c.1946C>A (p.Ala649Glu)
c.1319C>A (p.Ala440Glu)
c.1130C>A (p.Ala377Glu)
c.1460C>A (p.Ala487Glu)
 gnomAD v4
6g.107634751C>GCA365171523SOBPc.1907C>G (p.Ala636Gly)
c.2060C>G (p.Ala687Gly)
c.1964C>G (p.Ala655Gly)
c.1946C>G (p.Ala649Gly)
c.1319C>G (p.Ala440Gly)
c.1130C>G (p.Ala377Gly)
c.1460C>G (p.Ala487Gly)
 gnomAD v4
6g.107634751C>TCA365171524SOBPc.1907C>T (p.Ala636Val)
c.2060C>T (p.Ala687Val)
c.1964C>T (p.Ala655Val)
c.1946C>T (p.Ala649Val)
c.1319C>T (p.Ala440Val)
c.1130C>T (p.Ala377Val)
c.1460C>T (p.Ala487Val)
 gnomAD v4
6g.107634752G>ACA451581737SOBPc.1908G>A (p.Ala636=)
c.2061G>A (p.Ala687=)
c.1965G>A (p.Ala655=)
c.1947G>A (p.Ala649=)
c.1320G>A (p.Ala440=)
c.1131G>A (p.Ala377=)
c.1461G>A (p.Ala487=)
 dbSNP gnomAD v4
6g.107634752G>CCA451581736SOBPc.1908G>C (p.Ala636=)
c.2061G>C (p.Ala687=)
c.1965G>C (p.Ala655=)
c.1947G>C (p.Ala649=)
c.1320G>C (p.Ala440=)
c.1131G>C (p.Ala377=)
c.1461G>C (p.Ala487=)
 gnomAD v4
6g.107634752G=CA1653939264SOBPc.1908G= (p.Ala636=)
c.2061G= (p.Ala687=)
c.1965G= (p.Ala655=)
c.1947G= (p.Ala649=)
c.1320G= (p.Ala440=)
c.1131G= (p.Ala377=)
c.1461G= (p.Ala487=)
6g.107634752G>TCA451581735SOBPc.1908G>T (p.Ala636=)
c.2061G>T (p.Ala687=)
c.1965G>T (p.Ala655=)
c.1947G>T (p.Ala649=)
c.1320G>T (p.Ala440=)
c.1131G>T (p.Ala377=)
c.1461G>T (p.Ala487=)
 gnomAD v4
6g.107634754delCA2772523076SOBPc.1910del (p.Gly637AlafsTer20)
c.2063del (p.Gly688AlafsTer20)
c.1967del (p.Gly656AlafsTer20)
c.1949del (p.Gly650AlafsTer20)
c.1322del (p.Gly441AlafsTer20)
c.1133del (p.Gly378AlafsTer20)
c.1463del (p.Gly488AlafsTer20)

Number of alleles fetched