Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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
6g.107634563G>ACA451581865SOBPc.1719G>A (p.Ala573=)
c.1872G>A (p.Ala624=)
c.1776G>A (p.Ala592=)
c.1758G>A (p.Ala586=)
c.1131G>A (p.Ala377=)
c.942G>A (p.Ala314=)
c.1272G>A (p.Ala424=)
gnomAD v4
6g.107634563G>CCA451581866SOBPc.1719G>C (p.Ala573=)
c.1872G>C (p.Ala624=)
c.1776G>C (p.Ala592=)
c.1758G>C (p.Ala586=)
c.1131G>C (p.Ala377=)
c.942G>C (p.Ala314=)
c.1272G>C (p.Ala424=)
6g.107634563G>TCA451581867SOBPc.1719G>T (p.Ala573=)
c.1872G>T (p.Ala624=)
c.1776G>T (p.Ala592=)
c.1758G>T (p.Ala586=)
c.1131G>T (p.Ala377=)
c.942G>T (p.Ala314=)
c.1272G>T (p.Ala424=)
gnomAD v4
6g.107634565delCA2679876745SOBPc.1721del (p.Gly574AlafsTer?)
c.1874del (p.Gly625AlafsTer?)
c.1778del (p.Gly593AlafsTer?)
c.1760del (p.Gly587AlafsTer?)
c.1133del (p.Gly378AlafsTer?)
c.944del (p.Gly315AlafsTer?)
c.1274del (p.Gly425AlafsTer?)
gnomAD v4
6g.107634564G>ACA365171081SOBPc.1720G>A (p.Gly574Ser)
c.1873G>A (p.Gly625Ser)
c.1777G>A (p.Gly593Ser)
c.1759G>A (p.Gly587Ser)
c.1132G>A (p.Gly378Ser)
c.943G>A (p.Gly315Ser)
c.1273G>A (p.Gly425Ser)
dbSNP gnomAD v4
6g.107634564G>CCA365171083SOBPc.1720G>C (p.Gly574Arg)
c.1873G>C (p.Gly625Arg)
c.1777G>C (p.Gly593Arg)
c.1759G>C (p.Gly587Arg)
c.1132G>C (p.Gly378Arg)
c.943G>C (p.Gly315Arg)
c.1273G>C (p.Gly425Arg)
6g.107634564G=CA1653938836SOBPc.1720G= (p.Gly574=)
c.1873G= (p.Gly625=)
c.1777G= (p.Gly593=)
c.1759G= (p.Gly587=)
c.1132G= (p.Gly378=)
c.943G= (p.Gly315=)
c.1273G= (p.Gly425=)
6g.107634564G>TCA365171085SOBPc.1720G>T (p.Gly574Cys)
c.1873G>T (p.Gly625Cys)
c.1777G>T (p.Gly593Cys)
c.1759G>T (p.Gly587Cys)
c.1132G>T (p.Gly378Cys)
c.943G>T (p.Gly315Cys)
c.1273G>T (p.Gly425Cys)
gnomAD v4
6g.107634565G>ACA365171089SOBPc.1721G>A (p.Gly574Asp)
c.1874G>A (p.Gly625Asp)
c.1778G>A (p.Gly593Asp)
c.1760G>A (p.Gly587Asp)
c.1133G>A (p.Gly378Asp)
c.944G>A (p.Gly315Asp)
c.1274G>A (p.Gly425Asp)
gnomAD v4
6g.107634565G>CCA365171091SOBPc.1721G>C (p.Gly574Ala)
c.1874G>C (p.Gly625Ala)
c.1778G>C (p.Gly593Ala)
c.1760G>C (p.Gly587Ala)
c.1133G>C (p.Gly378Ala)
c.944G>C (p.Gly315Ala)
c.1274G>C (p.Gly425Ala)
6g.107634565G>TCA365171087SOBPc.1721G>T (p.Gly574Val)
c.1874G>T (p.Gly625Val)
c.1778G>T (p.Gly593Val)
c.1760G>T (p.Gly587Val)
c.1133G>T (p.Gly378Val)
c.944G>T (p.Gly315Val)
c.1274G>T (p.Gly425Val)
gnomAD v4
6g.107634566C>ACA451581874SOBPc.1722C>A (p.Gly574=)
c.1875C>A (p.Gly625=)
c.1779C>A (p.Gly593=)
c.1761C>A (p.Gly587=)
c.1134C>A (p.Gly378=)
c.945C>A (p.Gly315=)
c.1275C>A (p.Gly425=)
6g.107634566C=CA1653938838SOBPc.1722C= (p.Gly574=)
c.1875C= (p.Gly625=)
c.1779C= (p.Gly593=)
c.1761C= (p.Gly587=)
c.1134C= (p.Gly378=)
c.945C= (p.Gly315=)
c.1275C= (p.Gly425=)
6g.107634566C>GCA451581873SOBPc.1722C>G (p.Gly574=)
c.1875C>G (p.Gly625=)
c.1779C>G (p.Gly593=)
c.1761C>G (p.Gly587=)
c.1134C>G (p.Gly378=)
c.945C>G (p.Gly315=)
c.1275C>G (p.Gly425=)
6g.107634566C>TCA451581876SOBPc.1722C>T (p.Gly574=)
c.1875C>T (p.Gly625=)
c.1779C>T (p.Gly593=)
c.1761C>T (p.Gly587=)
c.1134C>T (p.Gly378=)
c.945C>T (p.Gly315=)
c.1275C>T (p.Gly425=)
dbSNP gnomAD v2 gnomAD v4 COSMIC
6g.107634567G>ACA365171093SOBPc.1723G>A (p.Gly575Ser)
c.1876G>A (p.Gly626Ser)
c.1780G>A (p.Gly594Ser)
c.1762G>A (p.Gly588Ser)
c.1135G>A (p.Gly379Ser)
c.946G>A (p.Gly316Ser)
c.1276G>A (p.Gly426Ser)
dbSNP gnomAD v2 gnomAD v4
6g.107634567G>CCA365171095SOBPc.1723G>C (p.Gly575Arg)
c.1876G>C (p.Gly626Arg)
c.1780G>C (p.Gly594Arg)
c.1762G>C (p.Gly588Arg)
c.1135G>C (p.Gly379Arg)
c.946G>C (p.Gly316Arg)
c.1276G>C (p.Gly426Arg)
6g.107634567G=CA1653938841SOBPc.1723G= (p.Gly575=)
c.1876G= (p.Gly626=)
c.1780G= (p.Gly594=)
c.1762G= (p.Gly588=)
c.1135G= (p.Gly379=)
c.946G= (p.Gly316=)
c.1276G= (p.Gly426=)
6g.107634567G>TCA365171096SOBPc.1723G>T (p.Gly575Cys)
c.1876G>T (p.Gly626Cys)
c.1780G>T (p.Gly594Cys)
c.1762G>T (p.Gly588Cys)
c.1135G>T (p.Gly379Cys)
c.946G>T (p.Gly316Cys)
c.1276G>T (p.Gly426Cys)
6g.107634568G>ACA365171100SOBPc.1724G>A (p.Gly575Asp)
c.1877G>A (p.Gly626Asp)
c.1781G>A (p.Gly594Asp)
c.1763G>A (p.Gly588Asp)
c.1136G>A (p.Gly379Asp)
c.947G>A (p.Gly316Asp)
c.1277G>A (p.Gly426Asp)
gnomAD v4
6g.107634568G>CCA365171102SOBPc.1724G>C (p.Gly575Ala)
c.1877G>C (p.Gly626Ala)
c.1781G>C (p.Gly594Ala)
c.1763G>C (p.Gly588Ala)
c.1136G>C (p.Gly379Ala)
c.947G>C (p.Gly316Ala)
c.1277G>C (p.Gly426Ala)
6g.107634568G>TCA365171104SOBPc.1724G>T (p.Gly575Val)
c.1877G>T (p.Gly626Val)
c.1781G>T (p.Gly594Val)
c.1763G>T (p.Gly588Val)
c.1136G>T (p.Gly379Val)
c.947G>T (p.Gly316Val)
c.1277G>T (p.Gly426Val)
gnomAD v4
6g.107634569C>ACA451581885SOBPc.1725C>A (p.Gly575=)
c.1878C>A (p.Gly626=)
c.1782C>A (p.Gly594=)
c.1764C>A (p.Gly588=)
c.1137C>A (p.Gly379=)
c.948C>A (p.Gly316=)
c.1278C>A (p.Gly426=)
gnomAD v4
6g.107634569C=CA1653938847SOBPc.1725C= (p.Gly575=)
c.1878C= (p.Gly626=)
c.1782C= (p.Gly594=)
c.1764C= (p.Gly588=)
c.1137C= (p.Gly379=)
c.948C= (p.Gly316=)
c.1278C= (p.Gly426=)
6g.107634569C>GCA3946569SOBPc.1725C>G (p.Gly575=)
c.1878C>G (p.Gly626=)
c.1782C>G (p.Gly594=)
c.1764C>G (p.Gly588=)
c.1137C>G (p.Gly379=)
c.948C>G (p.Gly316=)
c.1278C>G (p.Gly426=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107634569C>TCA3946570SOBPc.1725C>T (p.Gly575=)
c.1878C>T (p.Gly626=)
c.1782C>T (p.Gly594=)
c.1764C>T (p.Gly588=)
c.1137C>T (p.Gly379=)
c.948C>T (p.Gly316=)
c.1278C>T (p.Gly426=)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.107634570A>CCA365171110SOBPc.1726A>C (p.Lys576Gln)
c.1879A>C (p.Lys627Gln)
c.1783A>C (p.Lys595Gln)
c.1765A>C (p.Lys589Gln)
c.1138A>C (p.Lys380Gln)
c.949A>C (p.Lys317Gln)
c.1279A>C (p.Lys427Gln)
6g.107634570A>GCA365171112SOBPc.1726A>G (p.Lys576Glu)
c.1879A>G (p.Lys627Glu)
c.1783A>G (p.Lys595Glu)
c.1765A>G (p.Lys589Glu)
c.1138A>G (p.Lys380Glu)
c.949A>G (p.Lys317Glu)
c.1279A>G (p.Lys427Glu)
6g.107634570A>TCA365171114SOBPc.1726A>T (p.Lys576Ter)
c.1879A>T (p.Lys627Ter)
c.1783A>T (p.Lys595Ter)
c.1765A>T (p.Lys589Ter)
c.1138A>T (p.Lys380Ter)
c.949A>T (p.Lys317Ter)
c.1279A>T (p.Lys427Ter)
6g.107634571A=CA1653938852SOBPc.1727A= (p.Lys576=)
c.1880A= (p.Lys627=)
c.1784A= (p.Lys595=)
c.1766A= (p.Lys589=)
c.1139A= (p.Lys380=)
c.950A= (p.Lys317=)
c.1280A= (p.Lys427=)
6g.107634571A>CCA365171119SOBPc.1727A>C (p.Lys576Thr)
c.1880A>C (p.Lys627Thr)
c.1784A>C (p.Lys595Thr)
c.1766A>C (p.Lys589Thr)
c.1139A>C (p.Lys380Thr)
c.950A>C (p.Lys317Thr)
c.1280A>C (p.Lys427Thr)
6g.107634571A>GCA3946571SOBPc.1727A>G (p.Lys576Arg)
c.1880A>G (p.Lys627Arg)
c.1784A>G (p.Lys595Arg)
c.1766A>G (p.Lys589Arg)
c.1139A>G (p.Lys380Arg)
c.950A>G (p.Lys317Arg)
c.1280A>G (p.Lys427Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107634571A>TCA365171117SOBPc.1727A>T (p.Lys576Met)
c.1880A>T (p.Lys627Met)
c.1784A>T (p.Lys595Met)
c.1766A>T (p.Lys589Met)
c.1139A>T (p.Lys380Met)
c.950A>T (p.Lys317Met)
c.1280A>T (p.Lys427Met)
6g.107634572G>ACA451581897SOBPc.1728G>A (p.Lys576=)
c.1881G>A (p.Lys627=)
c.1785G>A (p.Lys595=)
c.1767G>A (p.Lys589=)
c.1140G>A (p.Lys380=)
c.951G>A (p.Lys317=)
c.1281G>A (p.Lys427=)
gnomAD v4
6g.107634572G>CCA365171124SOBPc.1728G>C (p.Lys576Asn)
c.1881G>C (p.Lys627Asn)
c.1785G>C (p.Lys595Asn)
c.1767G>C (p.Lys589Asn)
c.1140G>C (p.Lys380Asn)
c.951G>C (p.Lys317Asn)
c.1281G>C (p.Lys427Asn)
dbSNP
6g.107634572G=CA1653938854SOBPc.1728G= (p.Lys576=)
c.1881G= (p.Lys627=)
c.1785G= (p.Lys595=)
c.1767G= (p.Lys589=)
c.1140G= (p.Lys380=)
c.951G= (p.Lys317=)
c.1281G= (p.Lys427=)
6g.107634572G>TCA365171126SOBPc.1728G>T (p.Lys576Asn)
c.1881G>T (p.Lys627Asn)
c.1785G>T (p.Lys595Asn)
c.1767G>T (p.Lys589Asn)
c.1140G>T (p.Lys380Asn)
c.951G>T (p.Lys317Asn)
c.1281G>T (p.Lys427Asn)
gnomAD v4
6g.107634573C>ACA365171129SOBPc.1729C>A (p.Pro577Thr)
c.1882C>A (p.Pro628Thr)
c.1786C>A (p.Pro596Thr)
c.1768C>A (p.Pro590Thr)
c.1141C>A (p.Pro381Thr)
c.952C>A (p.Pro318Thr)
c.1282C>A (p.Pro428Thr)
gnomAD v4
6g.107634573C=CA1653938858SOBPc.1729C= (p.Pro577=)
c.1882C= (p.Pro628=)
c.1786C= (p.Pro596=)
c.1768C= (p.Pro590=)
c.1141C= (p.Pro381=)
c.952C= (p.Pro318=)
c.1282C= (p.Pro428=)
6g.107634573C>GCA365171131SOBPc.1729C>G (p.Pro577Ala)
c.1882C>G (p.Pro628Ala)
c.1786C>G (p.Pro596Ala)
c.1768C>G (p.Pro590Ala)
c.1141C>G (p.Pro381Ala)
c.952C>G (p.Pro318Ala)
c.1282C>G (p.Pro428Ala)
6g.107634573C>TCA3946572SOBPc.1729C>T (p.Pro577Ser)
c.1882C>T (p.Pro628Ser)
c.1786C>T (p.Pro596Ser)
c.1768C>T (p.Pro590Ser)
c.1141C>T (p.Pro381Ser)
c.952C>T (p.Pro318Ser)
c.1282C>T (p.Pro428Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107634574C>ACA365171138SOBPc.1730C>A (p.Pro577Gln)
c.1883C>A (p.Pro628Gln)
c.1787C>A (p.Pro596Gln)
c.1769C>A (p.Pro590Gln)
c.1142C>A (p.Pro381Gln)
c.953C>A (p.Pro318Gln)
c.1283C>A (p.Pro428Gln)
gnomAD v4
6g.107634574C=CA1653938863SOBPc.1730C= (p.Pro577=)
c.1883C= (p.Pro628=)
c.1787C= (p.Pro596=)
c.1769C= (p.Pro590=)
c.1142C= (p.Pro381=)
c.953C= (p.Pro318=)
c.1283C= (p.Pro428=)
6g.107634574C>GCA365171135SOBPc.1730C>G (p.Pro577Arg)
c.1883C>G (p.Pro628Arg)
c.1787C>G (p.Pro596Arg)
c.1769C>G (p.Pro590Arg)
c.1142C>G (p.Pro381Arg)
c.953C>G (p.Pro318Arg)
c.1283C>G (p.Pro428Arg)
dbSNP gnomAD v4
6g.107634574C>TCA365171136SOBPc.1730C>T (p.Pro577Leu)
c.1883C>T (p.Pro628Leu)
c.1787C>T (p.Pro596Leu)
c.1769C>T (p.Pro590Leu)
c.1142C>T (p.Pro381Leu)
c.953C>T (p.Pro318Leu)
c.1283C>T (p.Pro428Leu)
6g.107634575A>CCA451581903SOBPc.1731A>C (p.Pro577=)
c.1884A>C (p.Pro628=)
c.1788A>C (p.Pro596=)
c.1770A>C (p.Pro590=)
c.1143A>C (p.Pro381=)
c.954A>C (p.Pro318=)
c.1284A>C (p.Pro428=)
6g.107634575A>GCA451581905SOBPc.1731A>G (p.Pro577=)
c.1884A>G (p.Pro628=)
c.1788A>G (p.Pro596=)
c.1770A>G (p.Pro590=)
c.1143A>G (p.Pro381=)
c.954A>G (p.Pro318=)
c.1284A>G (p.Pro428=)
6g.107634575A>TCA451581906SOBPc.1731A>T (p.Pro577=)
c.1884A>T (p.Pro628=)
c.1788A>T (p.Pro596=)
c.1770A>T (p.Pro590=)
c.1143A>T (p.Pro381=)
c.954A>T (p.Pro318=)
c.1284A>T (p.Pro428=)
gnomAD v4
6g.107634576A=CA1653938865SOBPc.1732A= (p.Ser578=)
c.1885A= (p.Ser629=)
c.1789A= (p.Ser597=)
c.1771A= (p.Ser591=)
c.1144A= (p.Ser382=)
c.955A= (p.Ser319=)
c.1285A= (p.Ser429=)
6g.107634576A>CCA365171141SOBPc.1732A>C (p.Ser578Arg)
c.1885A>C (p.Ser629Arg)
c.1789A>C (p.Ser597Arg)
c.1771A>C (p.Ser591Arg)
c.1144A>C (p.Ser382Arg)
c.955A>C (p.Ser319Arg)
c.1285A>C (p.Ser429Arg)
6g.107634576A>GCA3946573SOBPc.1732A>G (p.Ser578Gly)
c.1885A>G (p.Ser629Gly)
c.1789A>G (p.Ser597Gly)
c.1771A>G (p.Ser591Gly)
c.1144A>G (p.Ser382Gly)
c.955A>G (p.Ser319Gly)
c.1285A>G (p.Ser429Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.107634576A>TCA365171145SOBPc.1732A>T (p.Ser578Cys)
c.1885A>T (p.Ser629Cys)
c.1789A>T (p.Ser597Cys)
c.1771A>T (p.Ser591Cys)
c.1144A>T (p.Ser382Cys)
c.955A>T (p.Ser319Cys)
c.1285A>T (p.Ser429Cys)
6g.107634577G>ACA365171148SOBPc.1733G>A (p.Ser578Asn)
c.1886G>A (p.Ser629Asn)
c.1790G>A (p.Ser597Asn)
c.1772G>A (p.Ser591Asn)
c.1145G>A (p.Ser382Asn)
c.956G>A (p.Ser319Asn)
c.1286G>A (p.Ser429Asn)
6g.107634577G>CCA365171149SOBPc.1733G>C (p.Ser578Thr)
c.1886G>C (p.Ser629Thr)
c.1790G>C (p.Ser597Thr)
c.1772G>C (p.Ser591Thr)
c.1145G>C (p.Ser382Thr)
c.956G>C (p.Ser319Thr)
c.1286G>C (p.Ser429Thr)
6g.107634577G>TCA365171151SOBPc.1733G>T (p.Ser578Ile)
c.1886G>T (p.Ser629Ile)
c.1790G>T (p.Ser597Ile)
c.1772G>T (p.Ser591Ile)
c.1145G>T (p.Ser382Ile)
c.956G>T (p.Ser319Ile)
c.1286G>T (p.Ser429Ile)
gnomAD v4
6g.107634578C>ACA3946574SOBPc.1734C>A (p.Ser578Arg)
c.1887C>A (p.Ser629Arg)
c.1791C>A (p.Ser597Arg)
c.1773C>A (p.Ser591Arg)
c.1146C>A (p.Ser382Arg)
c.957C>A (p.Ser319Arg)
c.1287C>A (p.Ser429Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107634578C=CA1653938872SOBPc.1734C= (p.Ser578=)
c.1887C= (p.Ser629=)
c.1791C= (p.Ser597=)
c.1773C= (p.Ser591=)
c.1146C= (p.Ser382=)
c.957C= (p.Ser319=)
c.1287C= (p.Ser429=)
6g.107634578C>GCA365171154SOBPc.1734C>G (p.Ser578Arg)
c.1887C>G (p.Ser629Arg)
c.1791C>G (p.Ser597Arg)
c.1773C>G (p.Ser591Arg)
c.1146C>G (p.Ser382Arg)
c.957C>G (p.Ser319Arg)
c.1287C>G (p.Ser429Arg)
6g.107634578C>TCA451581916SOBPc.1734C>T (p.Ser578=)
c.1887C>T (p.Ser629=)
c.1791C>T (p.Ser597=)
c.1773C>T (p.Ser591=)
c.1146C>T (p.Ser382=)
c.957C>T (p.Ser319=)
c.1287C>T (p.Ser429=)
dbSNP gnomAD v4
6g.107634579G>ACA365171158SOBPc.1735G>A (p.Gly579Arg)
c.1888G>A (p.Gly630Arg)
c.1792G>A (p.Gly598Arg)
c.1774G>A (p.Gly592Arg)
c.1147G>A (p.Gly383Arg)
c.958G>A (p.Gly320Arg)
c.1288G>A (p.Gly430Arg)
6g.107634579G>CCA365171162SOBPc.1735G>C (p.Gly579Arg)
c.1888G>C (p.Gly630Arg)
c.1792G>C (p.Gly598Arg)
c.1774G>C (p.Gly592Arg)
c.1147G>C (p.Gly383Arg)
c.958G>C (p.Gly320Arg)
c.1288G>C (p.Gly430Arg)
6g.107634579G>TCA365171160SOBPc.1735G>T (p.Gly579Ter)
c.1888G>T (p.Gly630Ter)
c.1792G>T (p.Gly598Ter)
c.1774G>T (p.Gly592Ter)
c.1147G>T (p.Gly383Ter)
c.958G>T (p.Gly320Ter)
c.1288G>T (p.Gly430Ter)
gnomAD v4
6g.107634580G>ACA365171165SOBPc.1736G>A (p.Gly579Glu)
c.1889G>A (p.Gly630Glu)
c.1793G>A (p.Gly598Glu)
c.1775G>A (p.Gly592Glu)
c.1148G>A (p.Gly383Glu)
c.959G>A (p.Gly320Glu)
c.1289G>A (p.Gly430Glu)
6g.107634580G>CCA365171168SOBPc.1736G>C (p.Gly579Ala)
c.1889G>C (p.Gly630Ala)
c.1793G>C (p.Gly598Ala)
c.1775G>C (p.Gly592Ala)
c.1148G>C (p.Gly383Ala)
c.959G>C (p.Gly320Ala)
c.1289G>C (p.Gly430Ala)
6g.107634580G=CA1653938875SOBPc.1736G= (p.Gly579=)
c.1889G= (p.Gly630=)
c.1793G= (p.Gly598=)
c.1775G= (p.Gly592=)
c.1148G= (p.Gly383=)
c.959G= (p.Gly320=)
c.1289G= (p.Gly430=)
6g.107634580G>TCA145013589SOBPc.1736G>T (p.Gly579Val)
c.1889G>T (p.Gly630Val)
c.1793G>T (p.Gly598Val)
c.1775G>T (p.Gly592Val)
c.1148G>T (p.Gly383Val)
c.959G>T (p.Gly320Val)
c.1289G>T (p.Gly430Val)
dbSNP gnomAD v4
6g.107634581A>CCA451581925SOBPc.1737A>C (p.Gly579=)
c.1890A>C (p.Gly630=)
c.1794A>C (p.Gly598=)
c.1776A>C (p.Gly592=)
c.1149A>C (p.Gly383=)
c.960A>C (p.Gly320=)
c.1290A>C (p.Gly430=)
gnomAD v4
6g.107634581A>GCA451581923SOBPc.1737A>G (p.Gly579=)
c.1890A>G (p.Gly630=)
c.1794A>G (p.Gly598=)
c.1776A>G (p.Gly592=)
c.1149A>G (p.Gly383=)
c.960A>G (p.Gly320=)
c.1290A>G (p.Gly430=)
gnomAD v4
6g.107634581A>TCA451581924SOBPc.1737A>T (p.Gly579=)
c.1890A>T (p.Gly630=)
c.1794A>T (p.Gly598=)
c.1776A>T (p.Gly592=)
c.1149A>T (p.Gly383=)
c.960A>T (p.Gly320=)
c.1290A>T (p.Gly430=)
6g.107634582C>ACA365171173SOBPc.1738C>A (p.His580Asn)
c.1891C>A (p.His631Asn)
c.1795C>A (p.His599Asn)
c.1777C>A (p.His593Asn)
c.1150C>A (p.His384Asn)
c.961C>A (p.His321Asn)
c.1291C>A (p.His431Asn)
6g.107634582C>GCA365171174SOBPc.1738C>G (p.His580Asp)
c.1891C>G (p.His631Asp)
c.1795C>G (p.His599Asp)
c.1777C>G (p.His593Asp)
c.1150C>G (p.His384Asp)
c.961C>G (p.His321Asp)
c.1291C>G (p.His431Asp)
6g.107634582C>TCA365171175SOBPc.1738C>T (p.His580Tyr)
c.1891C>T (p.His631Tyr)
c.1795C>T (p.His599Tyr)
c.1777C>T (p.His593Tyr)
c.1150C>T (p.His384Tyr)
c.961C>T (p.His321Tyr)
c.1291C>T (p.His431Tyr)
gnomAD v4
6g.107634583A=CA1653938879SOBPc.1739A= (p.His580=)
c.1892A= (p.His631=)
c.1796A= (p.His599=)
c.1778A= (p.His593=)
c.1151A= (p.His384=)
c.962A= (p.His321=)
c.1292A= (p.His431=)
6g.107634583A>CCA365171178SOBPc.1739A>C (p.His580Pro)
c.1892A>C (p.His631Pro)
c.1796A>C (p.His599Pro)
c.1778A>C (p.His593Pro)
c.1151A>C (p.His384Pro)
c.962A>C (p.His321Pro)
c.1292A>C (p.His431Pro)
6g.107634583A>GCA3946575SOBPc.1739A>G (p.His580Arg)
c.1892A>G (p.His631Arg)
c.1796A>G (p.His599Arg)
c.1778A>G (p.His593Arg)
c.1151A>G (p.His384Arg)
c.962A>G (p.His321Arg)
c.1292A>G (p.His431Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107634583A>TCA365171182SOBPc.1739A>T (p.His580Leu)
c.1892A>T (p.His631Leu)
c.1796A>T (p.His599Leu)
c.1778A>T (p.His593Leu)
c.1151A>T (p.His384Leu)
c.962A>T (p.His321Leu)
c.1292A>T (p.His431Leu)
6g.107634584C>ACA365171184SOBPc.1740C>A (p.His580Gln)
c.1893C>A (p.His631Gln)
c.1797C>A (p.His599Gln)
c.1779C>A (p.His593Gln)
c.1152C>A (p.His384Gln)
c.963C>A (p.His321Gln)
c.1293C>A (p.His431Gln)
gnomAD v4
6g.107634584C>GCA365171186SOBPc.1740C>G (p.His580Gln)
c.1893C>G (p.His631Gln)
c.1797C>G (p.His599Gln)
c.1779C>G (p.His593Gln)
c.1152C>G (p.His384Gln)
c.963C>G (p.His321Gln)
c.1293C>G (p.His431Gln)
6g.107634584C>TCA451581935SOBPc.1740C>T (p.His580=)
c.1893C>T (p.His631=)
c.1797C>T (p.His599=)
c.1779C>T (p.His593=)
c.1152C>T (p.His384=)
c.963C>T (p.His321=)
c.1293C>T (p.His431=)
dbSNP gnomAD v4
6g.107634585T>ACA365171191SOBPc.1741T>A (p.Ser581Thr)
c.1894T>A (p.Ser632Thr)
c.1798T>A (p.Ser600Thr)
c.1780T>A (p.Ser594Thr)
c.1153T>A (p.Ser385Thr)
c.964T>A (p.Ser322Thr)
c.1294T>A (p.Ser432Thr)
6g.107634585T>CCA365171189SOBPc.1741T>C (p.Ser581Pro)
c.1894T>C (p.Ser632Pro)
c.1798T>C (p.Ser600Pro)
c.1780T>C (p.Ser594Pro)
c.1153T>C (p.Ser385Pro)
c.964T>C (p.Ser322Pro)
c.1294T>C (p.Ser432Pro)
6g.107634585T>GCA365171188SOBPc.1741T>G (p.Ser581Ala)
c.1894T>G (p.Ser632Ala)
c.1798T>G (p.Ser600Ala)
c.1780T>G (p.Ser594Ala)
c.1153T>G (p.Ser385Ala)
c.964T>G (p.Ser322Ala)
c.1294T>G (p.Ser432Ala)
6g.107634586C>ACA365171195SOBPc.1742C>A (p.Ser581Tyr)
c.1895C>A (p.Ser632Tyr)
c.1799C>A (p.Ser600Tyr)
c.1781C>A (p.Ser594Tyr)
c.1154C>A (p.Ser385Tyr)
c.965C>A (p.Ser322Tyr)
c.1295C>A (p.Ser432Tyr)
6g.107634586C>GCA365171197SOBPc.1742C>G (p.Ser581Cys)
c.1895C>G (p.Ser632Cys)
c.1799C>G (p.Ser600Cys)
c.1781C>G (p.Ser594Cys)
c.1154C>G (p.Ser385Cys)
c.965C>G (p.Ser322Cys)
c.1295C>G (p.Ser432Cys)
6g.107634586C>TCA365171199SOBPc.1742C>T (p.Ser581Phe)
c.1895C>T (p.Ser632Phe)
c.1799C>T (p.Ser600Phe)
c.1781C>T (p.Ser594Phe)
c.1154C>T (p.Ser385Phe)
c.965C>T (p.Ser322Phe)
c.1295C>T (p.Ser432Phe)
dbSNP gnomAD v4
6g.107634587C>ACA451581942SOBPc.1743C>A (p.Ser581=)
c.1896C>A (p.Ser632=)
c.1800C>A (p.Ser600=)
c.1782C>A (p.Ser594=)
c.1155C>A (p.Ser385=)
c.966C>A (p.Ser322=)
c.1296C>A (p.Ser432=)
dbSNP gnomAD v3 gnomAD v4
6g.107634587C=CA1653938881SOBPc.1743C= (p.Ser581=)
c.1896C= (p.Ser632=)
c.1800C= (p.Ser600=)
c.1782C= (p.Ser594=)
c.1155C= (p.Ser385=)
c.966C= (p.Ser322=)
c.1296C= (p.Ser432=)
6g.107634587C>GCA451581938SOBPc.1743C>G (p.Ser581=)
c.1896C>G (p.Ser632=)
c.1800C>G (p.Ser600=)
c.1782C>G (p.Ser594=)
c.1155C>G (p.Ser385=)
c.966C>G (p.Ser322=)
c.1296C>G (p.Ser432=)
6g.107634587C>TCA451581940SOBPc.1743C>T (p.Ser581=)
c.1896C>T (p.Ser632=)
c.1800C>T (p.Ser600=)
c.1782C>T (p.Ser594=)
c.1155C>T (p.Ser385=)
c.966C>T (p.Ser322=)
c.1296C>T (p.Ser432=)
dbSNP gnomAD v4
6g.107634588C>ACA365171201SOBPc.1744C>A (p.Leu582Met)
c.1897C>A (p.Leu633Met)
c.1801C>A (p.Leu601Met)
c.1783C>A (p.Leu595Met)
c.1156C>A (p.Leu386Met)
c.967C>A (p.Leu323Met)
c.1297C>A (p.Leu433Met)
dbSNP gnomAD v2 gnomAD v4
6g.107634588C=CA1653938887SOBPc.1744C= (p.Leu582=)
c.1897C= (p.Leu633=)
c.1801C= (p.Leu601=)
c.1783C= (p.Leu595=)
c.1156C= (p.Leu386=)
c.967C= (p.Leu323=)
c.1297C= (p.Leu433=)
6g.107634588C>GCA365171203SOBPc.1744C>G (p.Leu582Val)
c.1897C>G (p.Leu633Val)
c.1801C>G (p.Leu601Val)
c.1783C>G (p.Leu595Val)
c.1156C>G (p.Leu386Val)
c.967C>G (p.Leu323Val)
c.1297C>G (p.Leu433Val)
6g.107634588C>TCA451581946SOBPc.1744C>T (p.Leu582=)
c.1897C>T (p.Leu633=)
c.1801C>T (p.Leu601=)
c.1783C>T (p.Leu595=)
c.1156C>T (p.Leu386=)
c.967C>T (p.Leu323=)
c.1297C>T (p.Leu433=)
dbSNP gnomAD v2 gnomAD v4
6g.107634589T>ACA365171204SOBPc.1745T>A (p.Leu582Gln)
c.1898T>A (p.Leu633Gln)
c.1802T>A (p.Leu601Gln)
c.1784T>A (p.Leu595Gln)
c.1157T>A (p.Leu386Gln)
c.968T>A (p.Leu323Gln)
c.1298T>A (p.Leu433Gln)
gnomAD v4
6g.107634589T>CCA365171205SOBPc.1745T>C (p.Leu582Pro)
c.1898T>C (p.Leu633Pro)
c.1802T>C (p.Leu601Pro)
c.1784T>C (p.Leu595Pro)
c.1157T>C (p.Leu386Pro)
c.968T>C (p.Leu323Pro)
c.1298T>C (p.Leu433Pro)
6g.107634589T>GCA365171206SOBPc.1745T>G (p.Leu582Arg)
c.1898T>G (p.Leu633Arg)
c.1802T>G (p.Leu601Arg)
c.1784T>G (p.Leu595Arg)
c.1157T>G (p.Leu386Arg)
c.968T>G (p.Leu323Arg)
c.1298T>G (p.Leu433Arg)
6g.107634590G>ACA451581950SOBPc.1746G>A (p.Leu582=)
c.1899G>A (p.Leu633=)
c.1803G>A (p.Leu601=)
c.1785G>A (p.Leu595=)
c.1158G>A (p.Leu386=)
c.969G>A (p.Leu323=)
c.1299G>A (p.Leu433=)
dbSNP gnomAD v2 gnomAD v4
6g.107634590G>CCA451581951SOBPc.1746G>C (p.Leu582=)
c.1899G>C (p.Leu633=)
c.1803G>C (p.Leu601=)
c.1785G>C (p.Leu595=)
c.1158G>C (p.Leu386=)
c.969G>C (p.Leu323=)
c.1299G>C (p.Leu433=)
6g.107634590G=CA1653938889SOBPc.1746G= (p.Leu582=)
c.1899G= (p.Leu633=)
c.1803G= (p.Leu601=)
c.1785G= (p.Leu595=)
c.1158G= (p.Leu386=)
c.969G= (p.Leu323=)
c.1299G= (p.Leu433=)
6g.107634590G>TCA451581953SOBPc.1746G>T (p.Leu582=)
c.1899G>T (p.Leu633=)
c.1803G>T (p.Leu601=)
c.1785G>T (p.Leu595=)
c.1158G>T (p.Leu386=)
c.969G>T (p.Leu323=)
c.1299G>T (p.Leu433=)
gnomAD v4
6g.107634591T>ACA365171207SOBPc.1747T>A (p.Ser583Thr)
c.1900T>A (p.Ser634Thr)
c.1804T>A (p.Ser602Thr)
c.1786T>A (p.Ser596Thr)
c.1159T>A (p.Ser387Thr)
c.970T>A (p.Ser324Thr)
c.1300T>A (p.Ser434Thr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634591T>CCA3946576SOBPc.1747T>C (p.Ser583Pro)
c.1900T>C (p.Ser634Pro)
c.1804T>C (p.Ser602Pro)
c.1786T>C (p.Ser596Pro)
c.1159T>C (p.Ser387Pro)
c.970T>C (p.Ser324Pro)
c.1300T>C (p.Ser434Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107634591T>GCA365171208SOBPc.1747T>G (p.Ser583Ala)
c.1900T>G (p.Ser634Ala)
c.1804T>G (p.Ser602Ala)
c.1786T>G (p.Ser596Ala)
c.1159T>G (p.Ser387Ala)
c.970T>G (p.Ser324Ala)
c.1300T>G (p.Ser434Ala)
6g.107634591T=CA1653938892SOBPc.1747T= (p.Ser583=)
c.1900T= (p.Ser634=)
c.1804T= (p.Ser602=)
c.1786T= (p.Ser596=)
c.1159T= (p.Ser387=)
c.970T= (p.Ser324=)
c.1300T= (p.Ser434=)
6g.107634591_107634592delinsTCCA1653938893SOBPc.1747_1748delinsTC (p.Ser583=)
c.1900_1901delinsTC (p.Ser634=)
c.1804_1805delinsTC (p.Ser602=)
c.1786_1787delinsTC (p.Ser596=)
c.1159_1160delinsTC (p.Ser387=)
c.970_971delinsTC (p.Ser324=)
c.1300_1301delinsTC (p.Ser434=)
6g.107634592C>ACA365171210SOBPc.1748C>A (p.Ser583Tyr)
c.1901C>A (p.Ser634Tyr)
c.1805C>A (p.Ser602Tyr)
c.1787C>A (p.Ser596Tyr)
c.1160C>A (p.Ser387Tyr)
c.971C>A (p.Ser324Tyr)
c.1301C>A (p.Ser434Tyr)
ClinVar gnomAD v4
6g.107634592C=CA1653938899SOBPc.1748C= (p.Ser583=)
c.1901C= (p.Ser634=)
c.1805C= (p.Ser602=)
c.1787C= (p.Ser596=)
c.1160C= (p.Ser387=)
c.971C= (p.Ser324=)
c.1301C= (p.Ser434=)
6g.107634592C>GCA3946577SOBPc.1748C>G (p.Ser583Cys)
c.1901C>G (p.Ser634Cys)
c.1805C>G (p.Ser602Cys)
c.1787C>G (p.Ser596Cys)
c.1160C>G (p.Ser387Cys)
c.971C>G (p.Ser324Cys)
c.1301C>G (p.Ser434Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107634592C>TCA365171211SOBPc.1748C>T (p.Ser583Phe)
c.1901C>T (p.Ser634Phe)
c.1805C>T (p.Ser602Phe)
c.1787C>T (p.Ser596Phe)
c.1160C>T (p.Ser387Phe)
c.971C>T (p.Ser324Phe)
c.1301C>T (p.Ser434Phe)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.107634597dupCA645555403SOBPc.1753dup (p.Arg585ProfsTer?)
c.1906dup (p.Arg636ProfsTer?)
c.1810dup (p.Arg604ProfsTer?)
c.1792dup (p.Arg598ProfsTer?)
c.1165dup (p.Arg389ProfsTer?)
c.976dup (p.Arg326ProfsTer?)
c.1306dup (p.Arg436ProfsTer?)
COSMIC
6g.107634597delCA365171209SOBPc.1753del (p.Arg585GlyfsTer22)
c.1906del (p.Arg636GlyfsTer22)
c.1810del (p.Arg604GlyfsTer22)
c.1792del (p.Arg598GlyfsTer22)
c.1165del (p.Arg389GlyfsTer22)
c.976del (p.Arg326GlyfsTer22)
c.1306del (p.Arg436GlyfsTer22)
dbSNP gnomAD v4
6g.107634593C>ACA451581958SOBPc.1749C>A (p.Ser583=)
c.1902C>A (p.Ser634=)
c.1806C>A (p.Ser602=)
c.1788C>A (p.Ser596=)
c.1161C>A (p.Ser387=)
c.972C>A (p.Ser324=)
c.1302C>A (p.Ser434=)
dbSNP
6g.107634593C=CA1653938904SOBPc.1749C= (p.Ser583=)
c.1902C= (p.Ser634=)
c.1806C= (p.Ser602=)
c.1788C= (p.Ser596=)
c.1161C= (p.Ser387=)
c.972C= (p.Ser324=)
c.1302C= (p.Ser434=)
6g.107634593C>GCA451581960SOBPc.1749C>G (p.Ser583=)
c.1902C>G (p.Ser634=)
c.1806C>G (p.Ser602=)
c.1788C>G (p.Ser596=)
c.1161C>G (p.Ser387=)
c.972C>G (p.Ser324=)
c.1302C>G (p.Ser434=)
dbSNP gnomAD v2
6g.107634593C>TCA451581962SOBPc.1749C>T (p.Ser583=)
c.1902C>T (p.Ser634=)
c.1806C>T (p.Ser602=)
c.1788C>T (p.Ser596=)
c.1161C>T (p.Ser387=)
c.972C>T (p.Ser324=)
c.1302C>T (p.Ser434=)
dbSNP gnomAD v2 gnomAD v4
6g.107634594C>ACA365171212SOBPc.1750C>A (p.Pro584Thr)
c.1903C>A (p.Pro635Thr)
c.1807C>A (p.Pro603Thr)
c.1789C>A (p.Pro597Thr)
c.1162C>A (p.Pro388Thr)
c.973C>A (p.Pro325Thr)
c.1303C>A (p.Pro435Thr)
dbSNP
6g.107634594C=CA1653938907SOBPc.1750C= (p.Pro584=)
c.1903C= (p.Pro635=)
c.1807C= (p.Pro603=)
c.1789C= (p.Pro597=)
c.1162C= (p.Pro388=)
c.973C= (p.Pro325=)
c.1303C= (p.Pro435=)
6g.107634594C>GCA365171213SOBPc.1750C>G (p.Pro584Ala)
c.1903C>G (p.Pro635Ala)
c.1807C>G (p.Pro603Ala)
c.1789C>G (p.Pro597Ala)
c.1162C>G (p.Pro388Ala)
c.973C>G (p.Pro325Ala)
c.1303C>G (p.Pro435Ala)
6g.107634594C>TCA3946578SOBPc.1750C>T (p.Pro584Ser)
c.1903C>T (p.Pro635Ser)
c.1807C>T (p.Pro603Ser)
c.1789C>T (p.Pro597Ser)
c.1162C>T (p.Pro388Ser)
c.973C>T (p.Pro325Ser)
c.1303C>T (p.Pro435Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.107634595C>ACA3946579SOBPc.1751C>A (p.Pro584His)
c.1904C>A (p.Pro635His)
c.1808C>A (p.Pro603His)
c.1790C>A (p.Pro597His)
c.1163C>A (p.Pro388His)
c.974C>A (p.Pro325His)
c.1304C>A (p.Pro435His)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.107634595C=CA1653938910SOBPc.1751C= (p.Pro584=)
c.1904C= (p.Pro635=)
c.1808C= (p.Pro603=)
c.1790C= (p.Pro597=)
c.1163C= (p.Pro388=)
c.974C= (p.Pro325=)
c.1304C= (p.Pro435=)
6g.107634595C>GCA365171214SOBPc.1751C>G (p.Pro584Arg)
c.1904C>G (p.Pro635Arg)
c.1808C>G (p.Pro603Arg)
c.1790C>G (p.Pro597Arg)
c.1163C>G (p.Pro388Arg)
c.974C>G (p.Pro325Arg)
c.1304C>G (p.Pro435Arg)
dbSNP
6g.107634595C>TCA365171215SOBPc.1751C>T (p.Pro584Leu)
c.1904C>T (p.Pro635Leu)
c.1808C>T (p.Pro603Leu)
c.1790C>T (p.Pro597Leu)
c.1163C>T (p.Pro388Leu)
c.974C>T (p.Pro325Leu)
c.1304C>T (p.Pro435Leu)
gnomAD v4
6g.107634596C>ACA3946580SOBPc.1752C>A (p.Pro584=)
c.1905C>A (p.Pro635=)
c.1809C>A (p.Pro603=)
c.1791C>A (p.Pro597=)
c.1164C>A (p.Pro388=)
c.975C>A (p.Pro325=)
c.1305C>A (p.Pro435=)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.107634596C=CA1653938915SOBPc.1752C= (p.Pro584=)
c.1905C= (p.Pro635=)
c.1809C= (p.Pro603=)
c.1791C= (p.Pro597=)
c.1164C= (p.Pro388=)
c.975C= (p.Pro325=)
c.1305C= (p.Pro435=)
6g.107634596C>GCA451581972SOBPc.1752C>G (p.Pro584=)
c.1905C>G (p.Pro635=)
c.1809C>G (p.Pro603=)
c.1791C>G (p.Pro597=)
c.1164C>G (p.Pro388=)
c.975C>G (p.Pro325=)
c.1305C>G (p.Pro435=)
6g.107634596C>TCA451581968SOBPc.1752C>T (p.Pro584=)
c.1905C>T (p.Pro635=)
c.1809C>T (p.Pro603=)
c.1791C>T (p.Pro597=)
c.1164C>T (p.Pro388=)
c.975C>T (p.Pro325=)
c.1305C>T (p.Pro435=)
gnomAD v4
6g.107634597C>ACA451581973SOBPc.1753C>A (p.Arg585=)
c.1906C>A (p.Arg636=)
c.1810C>A (p.Arg604=)
c.1792C>A (p.Arg598=)
c.1165C>A (p.Arg389=)
c.976C>A (p.Arg326=)
c.1306C>A (p.Arg436=)
gnomAD v4
6g.107634597C=CA1653938921SOBPc.1753C= (p.Arg585=)
c.1906C= (p.Arg636=)
c.1810C= (p.Arg604=)
c.1792C= (p.Arg598=)
c.1165C= (p.Arg389=)
c.976C= (p.Arg326=)
c.1306C= (p.Arg436=)
6g.107634597C>GCA365171216SOBPc.1753C>G (p.Arg585Gly)
c.1906C>G (p.Arg636Gly)
c.1810C>G (p.Arg604Gly)
c.1792C>G (p.Arg598Gly)
c.1165C>G (p.Arg389Gly)
c.976C>G (p.Arg326Gly)
c.1306C>G (p.Arg436Gly)
dbSNP
6g.107634597C>TCA365171217SOBPc.1753C>T (p.Arg585Trp)
c.1906C>T (p.Arg636Trp)
c.1810C>T (p.Arg604Trp)
c.1792C>T (p.Arg598Trp)
c.1165C>T (p.Arg389Trp)
c.976C>T (p.Arg326Trp)
c.1306C>T (p.Arg436Trp)
ClinVar gnomAD v4
6g.107634598G>ACA365171218SOBPc.1754G>A (p.Arg585Gln)
c.1907G>A (p.Arg636Gln)
c.1811G>A (p.Arg604Gln)
c.1793G>A (p.Arg598Gln)
c.1166G>A (p.Arg389Gln)
c.977G>A (p.Arg326Gln)
c.1307G>A (p.Arg436Gln)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634598G>CCA365171219SOBPc.1754G>C (p.Arg585Pro)
c.1907G>C (p.Arg636Pro)
c.1811G>C (p.Arg604Pro)
c.1793G>C (p.Arg598Pro)
c.1166G>C (p.Arg389Pro)
c.977G>C (p.Arg326Pro)
c.1307G>C (p.Arg436Pro)
6g.107634598G=CA1653938927SOBPc.1754G= (p.Arg585=)
c.1907G= (p.Arg636=)
c.1811G= (p.Arg604=)
c.1793G= (p.Arg598=)
c.1166G= (p.Arg389=)
c.977G= (p.Arg326=)
c.1307G= (p.Arg436=)
6g.107634598G>TCA365171220SOBPc.1754G>T (p.Arg585Leu)
c.1907G>T (p.Arg636Leu)
c.1811G>T (p.Arg604Leu)
c.1793G>T (p.Arg598Leu)
c.1166G>T (p.Arg389Leu)
c.977G>T (p.Arg326Leu)
c.1307G>T (p.Arg436Leu)
gnomAD v4
6g.107634599G>ACA451581976SOBPc.1755G>A (p.Arg585=)
c.1908G>A (p.Arg636=)
c.1812G>A (p.Arg604=)
c.1794G>A (p.Arg598=)
c.1167G>A (p.Arg389=)
c.978G>A (p.Arg326=)
c.1308G>A (p.Arg436=)
6g.107634599G>CCA451581978SOBPc.1755G>C (p.Arg585=)
c.1908G>C (p.Arg636=)
c.1812G>C (p.Arg604=)
c.1794G>C (p.Arg598=)
c.1167G>C (p.Arg389=)
c.978G>C (p.Arg326=)
c.1308G>C (p.Arg436=)
6g.107634599G>TCA451581980SOBPc.1755G>T (p.Arg585=)
c.1908G>T (p.Arg636=)
c.1812G>T (p.Arg604=)
c.1794G>T (p.Arg598=)
c.1167G>T (p.Arg389=)
c.978G>T (p.Arg326=)
c.1308G>T (p.Arg436=)
dbSNP

Number of alleles fetched