Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
6g.107634600G>ACA365171223SOBPc.1756G>A (p.Asp586Asn)
c.1909G>A (p.Asp637Asn)
c.1813G>A (p.Asp605Asn)
c.1795G>A (p.Asp599Asn)
c.1168G>A (p.Asp390Asn)
c.979G>A (p.Asp327Asn)
c.1309G>A (p.Asp437Asn)
6g.107634600G>CCA365171221SOBPc.1756G>C (p.Asp586His)
c.1909G>C (p.Asp637His)
c.1813G>C (p.Asp605His)
c.1795G>C (p.Asp599His)
c.1168G>C (p.Asp390His)
c.979G>C (p.Asp327His)
c.1309G>C (p.Asp437His)
6g.107634600G>TCA365171222SOBPc.1756G>T (p.Asp586Tyr)
c.1909G>T (p.Asp637Tyr)
c.1813G>T (p.Asp605Tyr)
c.1795G>T (p.Asp599Tyr)
c.1168G>T (p.Asp390Tyr)
c.979G>T (p.Asp327Tyr)
c.1309G>T (p.Asp437Tyr)
gnomAD v4
6g.107634601A=CA1653938930SOBPc.1757A= (p.Asp586=)
c.1910A= (p.Asp637=)
c.1814A= (p.Asp605=)
c.1796A= (p.Asp599=)
c.1169A= (p.Asp390=)
c.980A= (p.Asp327=)
c.1310A= (p.Asp437=)
6g.107634601A>CCA365171224SOBPc.1757A>C (p.Asp586Ala)
c.1910A>C (p.Asp637Ala)
c.1814A>C (p.Asp605Ala)
c.1796A>C (p.Asp599Ala)
c.1169A>C (p.Asp390Ala)
c.980A>C (p.Asp327Ala)
c.1310A>C (p.Asp437Ala)
6g.107634601A>GCA365171225SOBPc.1757A>G (p.Asp586Gly)
c.1910A>G (p.Asp637Gly)
c.1814A>G (p.Asp605Gly)
c.1796A>G (p.Asp599Gly)
c.1169A>G (p.Asp390Gly)
c.980A>G (p.Asp327Gly)
c.1310A>G (p.Asp437Gly)
dbSNP
6g.107634601A>TCA145013633SOBPc.1757A>T (p.Asp586Val)
c.1910A>T (p.Asp637Val)
c.1814A>T (p.Asp605Val)
c.1796A>T (p.Asp599Val)
c.1169A>T (p.Asp390Val)
c.980A>T (p.Asp327Val)
c.1310A>T (p.Asp437Val)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634602C>ACA365171226SOBPc.1758C>A (p.Asp586Glu)
c.1911C>A (p.Asp637Glu)
c.1815C>A (p.Asp605Glu)
c.1797C>A (p.Asp599Glu)
c.1170C>A (p.Asp390Glu)
c.981C>A (p.Asp327Glu)
c.1311C>A (p.Asp437Glu)
6g.107634602C>GCA365171227SOBPc.1758C>G (p.Asp586Glu)
c.1911C>G (p.Asp637Glu)
c.1815C>G (p.Asp605Glu)
c.1797C>G (p.Asp599Glu)
c.1170C>G (p.Asp390Glu)
c.981C>G (p.Asp327Glu)
c.1311C>G (p.Asp437Glu)
6g.107634602C>TCA451581987SOBPc.1758C>T (p.Asp586=)
c.1911C>T (p.Asp637=)
c.1815C>T (p.Asp605=)
c.1797C>T (p.Asp599=)
c.1170C>T (p.Asp390=)
c.981C>T (p.Asp327=)
c.1311C>T (p.Asp437=)
gnomAD v4
6g.107634603T>ACA365171228SOBPc.1759T>A (p.Ser587Thr)
c.1912T>A (p.Ser638Thr)
c.1816T>A (p.Ser606Thr)
c.1798T>A (p.Ser600Thr)
c.1171T>A (p.Ser391Thr)
c.982T>A (p.Ser328Thr)
c.1312T>A (p.Ser438Thr)
6g.107634603T>CCA365171229SOBPc.1759T>C (p.Ser587Pro)
c.1912T>C (p.Ser638Pro)
c.1816T>C (p.Ser606Pro)
c.1798T>C (p.Ser600Pro)
c.1171T>C (p.Ser391Pro)
c.982T>C (p.Ser328Pro)
c.1312T>C (p.Ser438Pro)
6g.107634603T>GCA365171230SOBPc.1759T>G (p.Ser587Ala)
c.1912T>G (p.Ser638Ala)
c.1816T>G (p.Ser606Ala)
c.1798T>G (p.Ser600Ala)
c.1171T>G (p.Ser391Ala)
c.982T>G (p.Ser328Ala)
c.1312T>G (p.Ser438Ala)
6g.107634604C>ACA365171231SOBPc.1760C>A (p.Ser587Tyr)
c.1913C>A (p.Ser638Tyr)
c.1817C>A (p.Ser606Tyr)
c.1799C>A (p.Ser600Tyr)
c.1172C>A (p.Ser391Tyr)
c.983C>A (p.Ser328Tyr)
c.1313C>A (p.Ser438Tyr)
gnomAD v4
6g.107634604C>GCA365171232SOBPc.1760C>G (p.Ser587Cys)
c.1913C>G (p.Ser638Cys)
c.1817C>G (p.Ser606Cys)
c.1799C>G (p.Ser600Cys)
c.1172C>G (p.Ser391Cys)
c.983C>G (p.Ser328Cys)
c.1313C>G (p.Ser438Cys)
6g.107634604C>TCA365171233SOBPc.1760C>T (p.Ser587Phe)
c.1913C>T (p.Ser638Phe)
c.1817C>T (p.Ser606Phe)
c.1799C>T (p.Ser600Phe)
c.1172C>T (p.Ser391Phe)
c.983C>T (p.Ser328Phe)
c.1313C>T (p.Ser438Phe)
ClinVar
6g.107634605C>ACA451581994SOBPc.1761C>A (p.Ser587=)
c.1914C>A (p.Ser638=)
c.1818C>A (p.Ser606=)
c.1800C>A (p.Ser600=)
c.1173C>A (p.Ser391=)
c.984C>A (p.Ser328=)
c.1314C>A (p.Ser438=)
6g.107634605C=CA1653938932SOBPc.1761C= (p.Ser587=)
c.1914C= (p.Ser638=)
c.1818C= (p.Ser606=)
c.1800C= (p.Ser600=)
c.1173C= (p.Ser391=)
c.984C= (p.Ser328=)
c.1314C= (p.Ser438=)
6g.107634605C>GCA451581995SOBPc.1761C>G (p.Ser587=)
c.1914C>G (p.Ser638=)
c.1818C>G (p.Ser606=)
c.1800C>G (p.Ser600=)
c.1173C>G (p.Ser391=)
c.984C>G (p.Ser328=)
c.1314C>G (p.Ser438=)
6g.107634605C>TCA3946581SOBPc.1761C>T (p.Ser587=)
c.1914C>T (p.Ser638=)
c.1818C>T (p.Ser606=)
c.1800C>T (p.Ser600=)
c.1173C>T (p.Ser391=)
c.984C>T (p.Ser328=)
c.1314C>T (p.Ser438=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107634606A>CCA365171235SOBPc.1762A>C (p.Lys588Gln)
c.1915A>C (p.Lys639Gln)
c.1819A>C (p.Lys607Gln)
c.1801A>C (p.Lys601Gln)
c.1174A>C (p.Lys392Gln)
c.985A>C (p.Lys329Gln)
c.1315A>C (p.Lys439Gln)
6g.107634606A>GCA365171236SOBPc.1762A>G (p.Lys588Glu)
c.1915A>G (p.Lys639Glu)
c.1819A>G (p.Lys607Glu)
c.1801A>G (p.Lys601Glu)
c.1174A>G (p.Lys392Glu)
c.985A>G (p.Lys329Glu)
c.1315A>G (p.Lys439Glu)
6g.107634606A>TCA365171234SOBPc.1762A>T (p.Lys588Ter)
c.1915A>T (p.Lys639Ter)
c.1819A>T (p.Lys607Ter)
c.1801A>T (p.Lys601Ter)
c.1174A>T (p.Lys392Ter)
c.985A>T (p.Lys329Ter)
c.1315A>T (p.Lys439Ter)
dbSNP
6g.107634607A=CA1653938936SOBPc.1763A= (p.Lys588=)
c.1916A= (p.Lys639=)
c.1820A= (p.Lys607=)
c.1802A= (p.Lys601=)
c.1175A= (p.Lys392=)
c.986A= (p.Lys329=)
c.1316A= (p.Lys439=)
6g.107634607A>CCA365171238SOBPc.1763A>C (p.Lys588Thr)
c.1916A>C (p.Lys639Thr)
c.1820A>C (p.Lys607Thr)
c.1802A>C (p.Lys601Thr)
c.1175A>C (p.Lys392Thr)
c.986A>C (p.Lys329Thr)
c.1316A>C (p.Lys439Thr)
6g.107634607A>GCA3946582SOBPc.1763A>G (p.Lys588Arg)
c.1916A>G (p.Lys639Arg)
c.1820A>G (p.Lys607Arg)
c.1802A>G (p.Lys601Arg)
c.1175A>G (p.Lys392Arg)
c.986A>G (p.Lys329Arg)
c.1316A>G (p.Lys439Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.107634607A>TCA365171237SOBPc.1763A>T (p.Lys588Met)
c.1916A>T (p.Lys639Met)
c.1820A>T (p.Lys607Met)
c.1802A>T (p.Lys601Met)
c.1175A>T (p.Lys392Met)
c.986A>T (p.Lys329Met)
c.1316A>T (p.Lys439Met)
6g.107634608G>ACA451581997SOBPc.1764G>A (p.Lys588=)
c.1917G>A (p.Lys639=)
c.1821G>A (p.Lys607=)
c.1803G>A (p.Lys601=)
c.1176G>A (p.Lys392=)
c.987G>A (p.Lys329=)
c.1317G>A (p.Lys439=)
6g.107634608G>CCA365171239SOBPc.1764G>C (p.Lys588Asn)
c.1917G>C (p.Lys639Asn)
c.1821G>C (p.Lys607Asn)
c.1803G>C (p.Lys601Asn)
c.1176G>C (p.Lys392Asn)
c.987G>C (p.Lys329Asn)
c.1317G>C (p.Lys439Asn)
6g.107634608G>TCA365171240SOBPc.1764G>T (p.Lys588Asn)
c.1917G>T (p.Lys639Asn)
c.1821G>T (p.Lys607Asn)
c.1803G>T (p.Lys601Asn)
c.1176G>T (p.Lys392Asn)
c.987G>T (p.Lys329Asn)
c.1317G>T (p.Lys439Asn)
gnomAD v4
6g.107634609C>ACA365171241SOBPc.1765C>A (p.Gln589Lys)
c.1918C>A (p.Gln640Lys)
c.1822C>A (p.Gln608Lys)
c.1804C>A (p.Gln602Lys)
c.1177C>A (p.Gln393Lys)
c.988C>A (p.Gln330Lys)
c.1318C>A (p.Gln440Lys)
gnomAD v4
6g.107634609C>GCA365171242SOBPc.1765C>G (p.Gln589Glu)
c.1918C>G (p.Gln640Glu)
c.1822C>G (p.Gln608Glu)
c.1804C>G (p.Gln602Glu)
c.1177C>G (p.Gln393Glu)
c.988C>G (p.Gln330Glu)
c.1318C>G (p.Gln440Glu)
gnomAD v4
6g.107634609C>TCA365171243SOBPc.1765C>T (p.Gln589Ter)
c.1918C>T (p.Gln640Ter)
c.1822C>T (p.Gln608Ter)
c.1804C>T (p.Gln602Ter)
c.1177C>T (p.Gln393Ter)
c.988C>T (p.Gln330Ter)
c.1318C>T (p.Gln440Ter)
6g.107634610A=CA1653938939SOBPc.1766A= (p.Gln589=)
c.1919A= (p.Gln640=)
c.1823A= (p.Gln608=)
c.1805A= (p.Gln602=)
c.1178A= (p.Gln393=)
c.989A= (p.Gln330=)
c.1319A= (p.Gln440=)
6g.107634610A>CCA365171244SOBPc.1766A>C (p.Gln589Pro)
c.1919A>C (p.Gln640Pro)
c.1823A>C (p.Gln608Pro)
c.1805A>C (p.Gln602Pro)
c.1178A>C (p.Gln393Pro)
c.989A>C (p.Gln330Pro)
c.1319A>C (p.Gln440Pro)
6g.107634610A>GCA365171245SOBPc.1766A>G (p.Gln589Arg)
c.1919A>G (p.Gln640Arg)
c.1823A>G (p.Gln608Arg)
c.1805A>G (p.Gln602Arg)
c.1178A>G (p.Gln393Arg)
c.989A>G (p.Gln330Arg)
c.1319A>G (p.Gln440Arg)
dbSNP gnomAD v3 gnomAD v4
6g.107634610A>TCA365171246SOBPc.1766A>T (p.Gln589Leu)
c.1919A>T (p.Gln640Leu)
c.1823A>T (p.Gln608Leu)
c.1805A>T (p.Gln602Leu)
c.1178A>T (p.Gln393Leu)
c.989A>T (p.Gln330Leu)
c.1319A>T (p.Gln440Leu)
6g.107634611G>ACA451582001SOBPc.1767G>A (p.Gln589=)
c.1920G>A (p.Gln640=)
c.1824G>A (p.Gln608=)
c.1806G>A (p.Gln602=)
c.1179G>A (p.Gln393=)
c.990G>A (p.Gln330=)
c.1320G>A (p.Gln440=)
6g.107634611G>CCA365171247SOBPc.1767G>C (p.Gln589His)
c.1920G>C (p.Gln640His)
c.1824G>C (p.Gln608His)
c.1806G>C (p.Gln602His)
c.1179G>C (p.Gln393His)
c.990G>C (p.Gln330His)
c.1320G>C (p.Gln440His)
6g.107634611G>TCA365171248SOBPc.1767G>T (p.Gln589His)
c.1920G>T (p.Gln640His)
c.1824G>T (p.Gln608His)
c.1806G>T (p.Gln602His)
c.1179G>T (p.Gln393His)
c.990G>T (p.Gln330His)
c.1320G>T (p.Gln440His)
6g.107634612G>ACA365171251SOBPc.1768G>A (p.Gly590Ser)
c.1921G>A (p.Gly641Ser)
c.1825G>A (p.Gly609Ser)
c.1807G>A (p.Gly603Ser)
c.1180G>A (p.Gly394Ser)
c.991G>A (p.Gly331Ser)
c.1321G>A (p.Gly441Ser)
dbSNP gnomAD v2 gnomAD v4
6g.107634612G>CCA365171250SOBPc.1768G>C (p.Gly590Arg)
c.1921G>C (p.Gly641Arg)
c.1825G>C (p.Gly609Arg)
c.1807G>C (p.Gly603Arg)
c.1180G>C (p.Gly394Arg)
c.991G>C (p.Gly331Arg)
c.1321G>C (p.Gly441Arg)
6g.107634612G=CA1653938941SOBPc.1768G= (p.Gly590=)
c.1921G= (p.Gly641=)
c.1825G= (p.Gly609=)
c.1807G= (p.Gly603=)
c.1180G= (p.Gly394=)
c.991G= (p.Gly331=)
c.1321G= (p.Gly441=)
6g.107634612G>TCA365171249SOBPc.1768G>T (p.Gly590Cys)
c.1921G>T (p.Gly641Cys)
c.1825G>T (p.Gly609Cys)
c.1807G>T (p.Gly603Cys)
c.1180G>T (p.Gly394Cys)
c.991G>T (p.Gly331Cys)
c.1321G>T (p.Gly441Cys)
6g.107634613G>ACA365171252SOBPc.1769G>A (p.Gly590Asp)
c.1922G>A (p.Gly641Asp)
c.1826G>A (p.Gly609Asp)
c.1808G>A (p.Gly603Asp)
c.1181G>A (p.Gly394Asp)
c.992G>A (p.Gly331Asp)
c.1322G>A (p.Gly441Asp)
dbSNP gnomAD v2
6g.107634613G>CCA365171253SOBPc.1769G>C (p.Gly590Ala)
c.1922G>C (p.Gly641Ala)
c.1826G>C (p.Gly609Ala)
c.1808G>C (p.Gly603Ala)
c.1181G>C (p.Gly394Ala)
c.992G>C (p.Gly331Ala)
c.1322G>C (p.Gly441Ala)
6g.107634613G=CA1653938943SOBPc.1769G= (p.Gly590=)
c.1922G= (p.Gly641=)
c.1826G= (p.Gly609=)
c.1808G= (p.Gly603=)
c.1181G= (p.Gly394=)
c.992G= (p.Gly331=)
c.1322G= (p.Gly441=)
6g.107634613G>TCA365171254SOBPc.1769G>T (p.Gly590Val)
c.1922G>T (p.Gly641Val)
c.1826G>T (p.Gly609Val)
c.1808G>T (p.Gly603Val)
c.1181G>T (p.Gly394Val)
c.992G>T (p.Gly331Val)
c.1322G>T (p.Gly441Val)
gnomAD v4
6g.107634614C>ACA451582005SOBPc.1770C>A (p.Gly590=)
c.1923C>A (p.Gly641=)
c.1827C>A (p.Gly609=)
c.1809C>A (p.Gly603=)
c.1182C>A (p.Gly394=)
c.993C>A (p.Gly331=)
c.1323C>A (p.Gly441=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634614C=CA1653938946SOBPc.1770C= (p.Gly590=)
c.1923C= (p.Gly641=)
c.1827C= (p.Gly609=)
c.1809C= (p.Gly603=)
c.1182C= (p.Gly394=)
c.993C= (p.Gly331=)
c.1323C= (p.Gly441=)
6g.107634614C>GCA145013651SOBPc.1770C>G (p.Gly590=)
c.1923C>G (p.Gly641=)
c.1827C>G (p.Gly609=)
c.1809C>G (p.Gly603=)
c.1182C>G (p.Gly394=)
c.993C>G (p.Gly331=)
c.1323C>G (p.Gly441=)
dbSNP gnomAD v4
6g.107634614C>TCA451582006SOBPc.1770C>T (p.Gly590=)
c.1923C>T (p.Gly641=)
c.1827C>T (p.Gly609=)
c.1809C>T (p.Gly603=)
c.1182C>T (p.Gly394=)
c.993C>T (p.Gly331=)
c.1323C>T (p.Gly441=)
dbSNP gnomAD v4
6g.107634615T>ACA365171255SOBPc.1771T>A (p.Ser591Thr)
c.1924T>A (p.Ser642Thr)
c.1828T>A (p.Ser610Thr)
c.1810T>A (p.Ser604Thr)
c.1183T>A (p.Ser395Thr)
c.994T>A (p.Ser332Thr)
c.1324T>A (p.Ser442Thr)
6g.107634615T>CCA365171256SOBPc.1771T>C (p.Ser591Pro)
c.1924T>C (p.Ser642Pro)
c.1828T>C (p.Ser610Pro)
c.1810T>C (p.Ser604Pro)
c.1183T>C (p.Ser395Pro)
c.994T>C (p.Ser332Pro)
c.1324T>C (p.Ser442Pro)
gnomAD v4
6g.107634615T>GCA365171257SOBPc.1771T>G (p.Ser591Ala)
c.1924T>G (p.Ser642Ala)
c.1828T>G (p.Ser610Ala)
c.1810T>G (p.Ser604Ala)
c.1183T>G (p.Ser395Ala)
c.994T>G (p.Ser332Ala)
c.1324T>G (p.Ser442Ala)
6g.107634616C>ACA365171258SOBPc.1772C>A (p.Ser591Ter)
c.1925C>A (p.Ser642Ter)
c.1829C>A (p.Ser610Ter)
c.1811C>A (p.Ser604Ter)
c.1184C>A (p.Ser395Ter)
c.995C>A (p.Ser332Ter)
c.1325C>A (p.Ser442Ter)
gnomAD v4
6g.107634616C=CA1653938949SOBPc.1772C= (p.Ser591=)
c.1925C= (p.Ser642=)
c.1829C= (p.Ser610=)
c.1811C= (p.Ser604=)
c.1184C= (p.Ser395=)
c.995C= (p.Ser332=)
c.1325C= (p.Ser442=)
6g.107634616C>GCA365171259SOBPc.1772C>G (p.Ser591Trp)
c.1925C>G (p.Ser642Trp)
c.1829C>G (p.Ser610Trp)
c.1811C>G (p.Ser604Trp)
c.1184C>G (p.Ser395Trp)
c.995C>G (p.Ser332Trp)
c.1325C>G (p.Ser442Trp)
6g.107634616C>TCA365171260SOBPc.1772C>T (p.Ser591Leu)
c.1925C>T (p.Ser642Leu)
c.1829C>T (p.Ser610Leu)
c.1811C>T (p.Ser604Leu)
c.1184C>T (p.Ser395Leu)
c.995C>T (p.Ser332Leu)
c.1325C>T (p.Ser442Leu)
dbSNP gnomAD v2 gnomAD v4
6g.107634617G>ACA3946583SOBPc.1773G>A (p.Ser591=)
c.1926G>A (p.Ser642=)
c.1830G>A (p.Ser610=)
c.1812G>A (p.Ser604=)
c.1185G>A (p.Ser395=)
c.996G>A (p.Ser332=)
c.1326G>A (p.Ser442=)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
6g.107634617G>CCA451582009SOBPc.1773G>C (p.Ser591=)
c.1926G>C (p.Ser642=)
c.1830G>C (p.Ser610=)
c.1812G>C (p.Ser604=)
c.1185G>C (p.Ser395=)
c.996G>C (p.Ser332=)
c.1326G>C (p.Ser442=)
6g.107634617G=CA1653938951SOBPc.1773G= (p.Ser591=)
c.1926G= (p.Ser642=)
c.1830G= (p.Ser610=)
c.1812G= (p.Ser604=)
c.1185G= (p.Ser395=)
c.996G= (p.Ser332=)
c.1326G= (p.Ser442=)
6g.107634617G>TCA451582010SOBPc.1773G>T (p.Ser591=)
c.1926G>T (p.Ser642=)
c.1830G>T (p.Ser610=)
c.1812G>T (p.Ser604=)
c.1185G>T (p.Ser395=)
c.996G>T (p.Ser332=)
c.1326G>T (p.Ser442=)
gnomAD v4
6g.107634618T>ACA365171261SOBPc.1774T>A (p.Ser592Thr)
c.1927T>A (p.Ser643Thr)
c.1831T>A (p.Ser611Thr)
c.1813T>A (p.Ser605Thr)
c.1186T>A (p.Ser396Thr)
c.997T>A (p.Ser333Thr)
c.1327T>A (p.Ser443Thr)
6g.107634618T>CCA365171262SOBPc.1774T>C (p.Ser592Pro)
c.1927T>C (p.Ser643Pro)
c.1831T>C (p.Ser611Pro)
c.1813T>C (p.Ser605Pro)
c.1186T>C (p.Ser396Pro)
c.997T>C (p.Ser333Pro)
c.1327T>C (p.Ser443Pro)
gnomAD v4
6g.107634618T>GCA365171263SOBPc.1774T>G (p.Ser592Ala)
c.1927T>G (p.Ser643Ala)
c.1831T>G (p.Ser611Ala)
c.1813T>G (p.Ser605Ala)
c.1186T>G (p.Ser396Ala)
c.997T>G (p.Ser333Ala)
c.1327T>G (p.Ser443Ala)
6g.107634619C>ACA365171266SOBPc.1775C>A (p.Ser592Tyr)
c.1928C>A (p.Ser643Tyr)
c.1832C>A (p.Ser611Tyr)
c.1814C>A (p.Ser605Tyr)
c.1187C>A (p.Ser396Tyr)
c.998C>A (p.Ser333Tyr)
c.1328C>A (p.Ser443Tyr)
gnomAD v4
6g.107634619C>GCA365171265SOBPc.1775C>G (p.Ser592Cys)
c.1928C>G (p.Ser643Cys)
c.1832C>G (p.Ser611Cys)
c.1814C>G (p.Ser605Cys)
c.1187C>G (p.Ser396Cys)
c.998C>G (p.Ser333Cys)
c.1328C>G (p.Ser443Cys)
gnomAD v4
6g.107634619C>TCA365171264SOBPc.1775C>T (p.Ser592Phe)
c.1928C>T (p.Ser643Phe)
c.1832C>T (p.Ser611Phe)
c.1814C>T (p.Ser605Phe)
c.1187C>T (p.Ser396Phe)
c.998C>T (p.Ser333Phe)
c.1328C>T (p.Ser443Phe)
dbSNP
6g.107634620C>ACA451582015SOBPc.1776C>A (p.Ser592=)
c.1929C>A (p.Ser643=)
c.1833C>A (p.Ser611=)
c.1815C>A (p.Ser605=)
c.1188C>A (p.Ser396=)
c.999C>A (p.Ser333=)
c.1329C>A (p.Ser443=)
dbSNP gnomAD v2 gnomAD v4
6g.107634620C=CA1653938954SOBPc.1776C= (p.Ser592=)
c.1929C= (p.Ser643=)
c.1833C= (p.Ser611=)
c.1815C= (p.Ser605=)
c.1188C= (p.Ser396=)
c.999C= (p.Ser333=)
c.1329C= (p.Ser443=)
6g.107634620C>GCA451582016SOBPc.1776C>G (p.Ser592=)
c.1929C>G (p.Ser643=)
c.1833C>G (p.Ser611=)
c.1815C>G (p.Ser605=)
c.1188C>G (p.Ser396=)
c.999C>G (p.Ser333=)
c.1329C>G (p.Ser443=)
dbSNP gnomAD v2 gnomAD v4
6g.107634620C>TCA451582018SOBPc.1776C>T (p.Ser592=)
c.1929C>T (p.Ser643=)
c.1833C>T (p.Ser611=)
c.1815C>T (p.Ser605=)
c.1188C>T (p.Ser396=)
c.999C>T (p.Ser333=)
c.1329C>T (p.Ser443=)
dbSNP
6g.107634621A>CCA365171269SOBPc.1777A>C (p.Lys593Gln)
c.1930A>C (p.Lys644Gln)
c.1834A>C (p.Lys612Gln)
c.1816A>C (p.Lys606Gln)
c.1189A>C (p.Lys397Gln)
c.1000A>C (p.Lys334Gln)
c.1330A>C (p.Lys444Gln)
6g.107634621A>GCA365171267SOBPc.1777A>G (p.Lys593Glu)
c.1930A>G (p.Lys644Glu)
c.1834A>G (p.Lys612Glu)
c.1816A>G (p.Lys606Glu)
c.1189A>G (p.Lys397Glu)
c.1000A>G (p.Lys334Glu)
c.1330A>G (p.Lys444Glu)
gnomAD v4
6g.107634621A>TCA365171268SOBPc.1777A>T (p.Lys593Ter)
c.1930A>T (p.Lys644Ter)
c.1834A>T (p.Lys612Ter)
c.1816A>T (p.Lys606Ter)
c.1189A>T (p.Lys397Ter)
c.1000A>T (p.Lys334Ter)
c.1330A>T (p.Lys444Ter)
6g.107634622A=CA1653938957SOBPc.1778A= (p.Lys593=)
c.1931A= (p.Lys644=)
c.1835A= (p.Lys612=)
c.1817A= (p.Lys606=)
c.1190A= (p.Lys397=)
c.1001A= (p.Lys334=)
c.1331A= (p.Lys444=)
6g.107634622A>CCA365171270SOBPc.1778A>C (p.Lys593Thr)
c.1931A>C (p.Lys644Thr)
c.1835A>C (p.Lys612Thr)
c.1817A>C (p.Lys606Thr)
c.1190A>C (p.Lys397Thr)
c.1001A>C (p.Lys334Thr)
c.1331A>C (p.Lys444Thr)
6g.107634622A>GCA365171271SOBPc.1778A>G (p.Lys593Arg)
c.1931A>G (p.Lys644Arg)
c.1835A>G (p.Lys612Arg)
c.1817A>G (p.Lys606Arg)
c.1190A>G (p.Lys397Arg)
c.1001A>G (p.Lys334Arg)
c.1331A>G (p.Lys444Arg)
dbSNP gnomAD v4
6g.107634622A>TCA365171272SOBPc.1778A>T (p.Lys593Met)
c.1931A>T (p.Lys644Met)
c.1835A>T (p.Lys612Met)
c.1817A>T (p.Lys606Met)
c.1190A>T (p.Lys397Met)
c.1001A>T (p.Lys334Met)
c.1331A>T (p.Lys444Met)
dbSNP gnomAD v2 gnomAD v4
6g.107634623G>ACA451582023SOBPc.1779G>A (p.Lys593=)
c.1932G>A (p.Lys644=)
c.1836G>A (p.Lys612=)
c.1818G>A (p.Lys606=)
c.1191G>A (p.Lys397=)
c.1002G>A (p.Lys334=)
c.1332G>A (p.Lys444=)
gnomAD v4
6g.107634623G>CCA365171273SOBPc.1779G>C (p.Lys593Asn)
c.1932G>C (p.Lys644Asn)
c.1836G>C (p.Lys612Asn)
c.1818G>C (p.Lys606Asn)
c.1191G>C (p.Lys397Asn)
c.1002G>C (p.Lys334Asn)
c.1332G>C (p.Lys444Asn)
dbSNP gnomAD v2 gnomAD v4
6g.107634623G=CA1653938958SOBPc.1779G= (p.Lys593=)
c.1932G= (p.Lys644=)
c.1836G= (p.Lys612=)
c.1818G= (p.Lys606=)
c.1191G= (p.Lys397=)
c.1002G= (p.Lys334=)
c.1332G= (p.Lys444=)
6g.107634623G>TCA365171274SOBPc.1779G>T (p.Lys593Asn)
c.1932G>T (p.Lys644Asn)
c.1836G>T (p.Lys612Asn)
c.1818G>T (p.Lys606Asn)
c.1191G>T (p.Lys397Asn)
c.1002G>T (p.Lys334Asn)
c.1332G>T (p.Lys444Asn)
gnomAD v4
6g.107634624T>ACA365171275SOBPc.1780T>A (p.Ser594Thr)
c.1933T>A (p.Ser645Thr)
c.1837T>A (p.Ser613Thr)
c.1819T>A (p.Ser607Thr)
c.1192T>A (p.Ser398Thr)
c.1003T>A (p.Ser335Thr)
c.1333T>A (p.Ser445Thr)
6g.107634624T>CCA365171276SOBPc.1780T>C (p.Ser594Pro)
c.1933T>C (p.Ser645Pro)
c.1837T>C (p.Ser613Pro)
c.1819T>C (p.Ser607Pro)
c.1192T>C (p.Ser398Pro)
c.1003T>C (p.Ser335Pro)
c.1333T>C (p.Ser445Pro)
gnomAD v4
6g.107634624T>GCA365171277SOBPc.1780T>G (p.Ser594Ala)
c.1933T>G (p.Ser645Ala)
c.1837T>G (p.Ser613Ala)
c.1819T>G (p.Ser607Ala)
c.1192T>G (p.Ser398Ala)
c.1003T>G (p.Ser335Ala)
c.1333T>G (p.Ser445Ala)
6g.107634625C>ACA365171278SOBPc.1781C>A (p.Ser594Tyr)
c.1934C>A (p.Ser645Tyr)
c.1838C>A (p.Ser613Tyr)
c.1820C>A (p.Ser607Tyr)
c.1193C>A (p.Ser398Tyr)
c.1004C>A (p.Ser335Tyr)
c.1334C>A (p.Ser445Tyr)
dbSNP gnomAD v2 gnomAD v4
6g.107634625C=CA1653938959SOBPc.1781C= (p.Ser594=)
c.1934C= (p.Ser645=)
c.1838C= (p.Ser613=)
c.1820C= (p.Ser607=)
c.1193C= (p.Ser398=)
c.1004C= (p.Ser335=)
c.1334C= (p.Ser445=)
6g.107634625C>GCA365171279SOBPc.1781C>G (p.Ser594Cys)
c.1934C>G (p.Ser645Cys)
c.1838C>G (p.Ser613Cys)
c.1820C>G (p.Ser607Cys)
c.1193C>G (p.Ser398Cys)
c.1004C>G (p.Ser335Cys)
c.1334C>G (p.Ser445Cys)
6g.107634625C>TCA365171280SOBPc.1781C>T (p.Ser594Phe)
c.1934C>T (p.Ser645Phe)
c.1838C>T (p.Ser613Phe)
c.1820C>T (p.Ser607Phe)
c.1193C>T (p.Ser398Phe)
c.1004C>T (p.Ser335Phe)
c.1334C>T (p.Ser445Phe)
dbSNP gnomAD v3 gnomAD v4
6g.107634626C>ACA451582027SOBPc.1782C>A (p.Ser594=)
c.1935C>A (p.Ser645=)
c.1839C>A (p.Ser613=)
c.1821C>A (p.Ser607=)
c.1194C>A (p.Ser398=)
c.1005C>A (p.Ser335=)
c.1335C>A (p.Ser445=)
dbSNP gnomAD v4
6g.107634626C=CA1653938961SOBPc.1782C= (p.Ser594=)
c.1935C= (p.Ser645=)
c.1839C= (p.Ser613=)
c.1821C= (p.Ser607=)
c.1194C= (p.Ser398=)
c.1005C= (p.Ser335=)
c.1335C= (p.Ser445=)
6g.107634626C>GCA3946585SOBPc.1782C>G (p.Ser594=)
c.1935C>G (p.Ser645=)
c.1839C>G (p.Ser613=)
c.1821C>G (p.Ser607=)
c.1194C>G (p.Ser398=)
c.1005C>G (p.Ser335=)
c.1335C>G (p.Ser445=)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.107634626C>TCA3946584SOBPc.1782C>T (p.Ser594=)
c.1935C>T (p.Ser645=)
c.1839C>T (p.Ser613=)
c.1821C>T (p.Ser607=)
c.1194C>T (p.Ser398=)
c.1005C>T (p.Ser335=)
c.1335C>T (p.Ser445=)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.107634627G>ACA365171281SOBPc.1783G>A (p.Ala595Thr)
c.1936G>A (p.Ala646Thr)
c.1840G>A (p.Ala614Thr)
c.1822G>A (p.Ala608Thr)
c.1195G>A (p.Ala399Thr)
c.1006G>A (p.Ala336Thr)
c.1336G>A (p.Ala446Thr)
gnomAD v4
6g.107634627G>CCA365171282SOBPc.1783G>C (p.Ala595Pro)
c.1936G>C (p.Ala646Pro)
c.1840G>C (p.Ala614Pro)
c.1822G>C (p.Ala608Pro)
c.1195G>C (p.Ala399Pro)
c.1006G>C (p.Ala336Pro)
c.1336G>C (p.Ala446Pro)
dbSNP gnomAD v2 gnomAD v4
6g.107634627G=CA1653938965SOBPc.1783G= (p.Ala595=)
c.1936G= (p.Ala646=)
c.1840G= (p.Ala614=)
c.1822G= (p.Ala608=)
c.1195G= (p.Ala399=)
c.1006G= (p.Ala336=)
c.1336G= (p.Ala446=)
6g.107634627G>TCA365171283SOBPc.1783G>T (p.Ala595Ser)
c.1936G>T (p.Ala646Ser)
c.1840G>T (p.Ala614Ser)
c.1822G>T (p.Ala608Ser)
c.1195G>T (p.Ala399Ser)
c.1006G>T (p.Ala336Ser)
c.1336G>T (p.Ala446Ser)
dbSNP gnomAD v3 gnomAD v4
6g.107634628C>ACA365171284SOBPc.1784C>A (p.Ala595Glu)
c.1937C>A (p.Ala646Glu)
c.1841C>A (p.Ala614Glu)
c.1823C>A (p.Ala608Glu)
c.1196C>A (p.Ala399Glu)
c.1007C>A (p.Ala336Glu)
c.1337C>A (p.Ala446Glu)
6g.107634628C=CA1653938970SOBPc.1784C= (p.Ala595=)
c.1937C= (p.Ala646=)
c.1841C= (p.Ala614=)
c.1823C= (p.Ala608=)
c.1196C= (p.Ala399=)
c.1007C= (p.Ala336=)
c.1337C= (p.Ala446=)
6g.107634628C>GCA365171285SOBPc.1784C>G (p.Ala595Gly)
c.1937C>G (p.Ala646Gly)
c.1841C>G (p.Ala614Gly)
c.1823C>G (p.Ala608Gly)
c.1196C>G (p.Ala399Gly)
c.1007C>G (p.Ala336Gly)
c.1337C>G (p.Ala446Gly)
6g.107634628C>TCA3946586SOBPc.1784C>T (p.Ala595Val)
c.1937C>T (p.Ala646Val)
c.1841C>T (p.Ala614Val)
c.1823C>T (p.Ala608Val)
c.1196C>T (p.Ala399Val)
c.1007C>T (p.Ala336Val)
c.1337C>T (p.Ala446Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107634629G>ACA451582033SOBPc.1785G>A (p.Ala595=)
c.1938G>A (p.Ala646=)
c.1842G>A (p.Ala614=)
c.1824G>A (p.Ala608=)
c.1197G>A (p.Ala399=)
c.1008G>A (p.Ala336=)
c.1338G>A (p.Ala446=)
gnomAD v4
6g.107634629G>CCA451582034SOBPc.1785G>C (p.Ala595=)
c.1938G>C (p.Ala646=)
c.1842G>C (p.Ala614=)
c.1824G>C (p.Ala608=)
c.1197G>C (p.Ala399=)
c.1008G>C (p.Ala336=)
c.1338G>C (p.Ala446=)
6g.107634629G>TCA451582032SOBPc.1785G>T (p.Ala595=)
c.1938G>T (p.Ala646=)
c.1842G>T (p.Ala614=)
c.1824G>T (p.Ala608=)
c.1197G>T (p.Ala399=)
c.1008G>T (p.Ala336=)
c.1338G>T (p.Ala446=)
dbSNP
6g.107634630G>ACA365171286SOBPc.1786G>A (p.Asp596Asn)
c.1939G>A (p.Asp647Asn)
c.1843G>A (p.Asp615Asn)
c.1825G>A (p.Asp609Asn)
c.1198G>A (p.Asp400Asn)
c.1009G>A (p.Asp337Asn)
c.1339G>A (p.Asp447Asn)
6g.107634630G>CCA365171287SOBPc.1786G>C (p.Asp596His)
c.1939G>C (p.Asp647His)
c.1843G>C (p.Asp615His)
c.1825G>C (p.Asp609His)
c.1198G>C (p.Asp400His)
c.1009G>C (p.Asp337His)
c.1339G>C (p.Asp447His)
6g.107634630G>TCA365171288SOBPc.1786G>T (p.Asp596Tyr)
c.1939G>T (p.Asp647Tyr)
c.1843G>T (p.Asp615Tyr)
c.1825G>T (p.Asp609Tyr)
c.1198G>T (p.Asp400Tyr)
c.1009G>T (p.Asp337Tyr)
c.1339G>T (p.Asp447Tyr)
gnomAD v4
6g.107634631A=CA1653938973SOBPc.1787A= (p.Asp596=)
c.1940A= (p.Asp647=)
c.1844A= (p.Asp615=)
c.1826A= (p.Asp609=)
c.1199A= (p.Asp400=)
c.1010A= (p.Asp337=)
c.1340A= (p.Asp447=)
6g.107634631A>CCA365171289SOBPc.1787A>C (p.Asp596Ala)
c.1940A>C (p.Asp647Ala)
c.1844A>C (p.Asp615Ala)
c.1826A>C (p.Asp609Ala)
c.1199A>C (p.Asp400Ala)
c.1010A>C (p.Asp337Ala)
c.1340A>C (p.Asp447Ala)
6g.107634631A>GCA365171290SOBPc.1787A>G (p.Asp596Gly)
c.1940A>G (p.Asp647Gly)
c.1844A>G (p.Asp615Gly)
c.1826A>G (p.Asp609Gly)
c.1199A>G (p.Asp400Gly)
c.1010A>G (p.Asp337Gly)
c.1340A>G (p.Asp447Gly)
6g.107634631A>TCA365171291SOBPc.1787A>T (p.Asp596Val)
c.1940A>T (p.Asp647Val)
c.1844A>T (p.Asp615Val)
c.1826A>T (p.Asp609Val)
c.1199A>T (p.Asp400Val)
c.1010A>T (p.Asp337Val)
c.1340A>T (p.Asp447Val)
dbSNP gnomAD v3 gnomAD v4
6g.107634632C>ACA365171292SOBPc.1788C>A (p.Asp596Glu)
c.1941C>A (p.Asp647Glu)
c.1845C>A (p.Asp615Glu)
c.1827C>A (p.Asp609Glu)
c.1200C>A (p.Asp400Glu)
c.1011C>A (p.Asp337Glu)
c.1341C>A (p.Asp447Glu)
gnomAD v4
6g.107634632C>GCA365171293SOBPc.1788C>G (p.Asp596Glu)
c.1941C>G (p.Asp647Glu)
c.1845C>G (p.Asp615Glu)
c.1827C>G (p.Asp609Glu)
c.1200C>G (p.Asp400Glu)
c.1011C>G (p.Asp337Glu)
c.1341C>G (p.Asp447Glu)
ClinVar
6g.107634632C>TCA451582039SOBPc.1788C>T (p.Asp596=)
c.1941C>T (p.Asp647=)
c.1845C>T (p.Asp615=)
c.1827C>T (p.Asp609=)
c.1200C>T (p.Asp400=)
c.1011C>T (p.Asp337=)
c.1341C>T (p.Asp447=)
gnomAD v4
6g.107634633T>ACA365171295SOBPc.1789T>A (p.Ser597Thr)
c.1942T>A (p.Ser648Thr)
c.1846T>A (p.Ser616Thr)
c.1828T>A (p.Ser610Thr)
c.1201T>A (p.Ser401Thr)
c.1012T>A (p.Ser338Thr)
c.1342T>A (p.Ser448Thr)
6g.107634633T>CCA365171296SOBPc.1789T>C (p.Ser597Pro)
c.1942T>C (p.Ser648Pro)
c.1846T>C (p.Ser616Pro)
c.1828T>C (p.Ser610Pro)
c.1201T>C (p.Ser401Pro)
c.1012T>C (p.Ser338Pro)
c.1342T>C (p.Ser448Pro)
6g.107634633T>GCA365171294SOBPc.1789T>G (p.Ser597Ala)
c.1942T>G (p.Ser648Ala)
c.1846T>G (p.Ser616Ala)
c.1828T>G (p.Ser610Ala)
c.1201T>G (p.Ser401Ala)
c.1012T>G (p.Ser338Ala)
c.1342T>G (p.Ser448Ala)

Number of alleles fetched