Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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)
6g.107634634C>ACA365171297SOBPc.1790C>A (p.Ser597Ter)
c.1943C>A (p.Ser648Ter)
c.1847C>A (p.Ser616Ter)
c.1829C>A (p.Ser610Ter)
c.1202C>A (p.Ser401Ter)
c.1013C>A (p.Ser338Ter)
c.1343C>A (p.Ser448Ter)
gnomAD v4
6g.107634634C>GCA365171299SOBPc.1790C>G (p.Ser597Trp)
c.1943C>G (p.Ser648Trp)
c.1847C>G (p.Ser616Trp)
c.1829C>G (p.Ser610Trp)
c.1202C>G (p.Ser401Trp)
c.1013C>G (p.Ser338Trp)
c.1343C>G (p.Ser448Trp)
6g.107634634C>TCA365171298SOBPc.1790C>T (p.Ser597Leu)
c.1943C>T (p.Ser648Leu)
c.1847C>T (p.Ser616Leu)
c.1829C>T (p.Ser610Leu)
c.1202C>T (p.Ser401Leu)
c.1013C>T (p.Ser338Leu)
c.1343C>T (p.Ser448Leu)
dbSNP gnomAD v4
6g.107634635G>ACA451582040SOBPc.1791G>A (p.Ser597=)
c.1944G>A (p.Ser648=)
c.1848G>A (p.Ser616=)
c.1830G>A (p.Ser610=)
c.1203G>A (p.Ser401=)
c.1014G>A (p.Ser338=)
c.1344G>A (p.Ser448=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634635G>CCA451582044SOBPc.1791G>C (p.Ser597=)
c.1944G>C (p.Ser648=)
c.1848G>C (p.Ser616=)
c.1830G>C (p.Ser610=)
c.1203G>C (p.Ser401=)
c.1014G>C (p.Ser338=)
c.1344G>C (p.Ser448=)
gnomAD v4
6g.107634635G=CA1653938975SOBPc.1791G= (p.Ser597=)
c.1944G= (p.Ser648=)
c.1848G= (p.Ser616=)
c.1830G= (p.Ser610=)
c.1203G= (p.Ser401=)
c.1014G= (p.Ser338=)
c.1344G= (p.Ser448=)
6g.107634635G>TCA451582042SOBPc.1791G>T (p.Ser597=)
c.1944G>T (p.Ser648=)
c.1848G>T (p.Ser616=)
c.1830G>T (p.Ser610=)
c.1203G>T (p.Ser401=)
c.1014G>T (p.Ser338=)
c.1344G>T (p.Ser448=)
gnomAD v4
6g.107634636C>ACA365171300SOBPc.1792C>A (p.Pro598Thr)
c.1945C>A (p.Pro649Thr)
c.1849C>A (p.Pro617Thr)
c.1831C>A (p.Pro611Thr)
c.1204C>A (p.Pro402Thr)
c.1015C>A (p.Pro339Thr)
c.1345C>A (p.Pro449Thr)
dbSNP gnomAD v4
6g.107634636C=CA1653938978SOBPc.1792C= (p.Pro598=)
c.1945C= (p.Pro649=)
c.1849C= (p.Pro617=)
c.1831C= (p.Pro611=)
c.1204C= (p.Pro402=)
c.1015C= (p.Pro339=)
c.1345C= (p.Pro449=)
6g.107634636C>GCA365171301SOBPc.1792C>G (p.Pro598Ala)
c.1945C>G (p.Pro649Ala)
c.1849C>G (p.Pro617Ala)
c.1831C>G (p.Pro611Ala)
c.1204C>G (p.Pro402Ala)
c.1015C>G (p.Pro339Ala)
c.1345C>G (p.Pro449Ala)
dbSNP
6g.107634636C>TCA365171302SOBPc.1792C>T (p.Pro598Ser)
c.1945C>T (p.Pro649Ser)
c.1849C>T (p.Pro617Ser)
c.1831C>T (p.Pro611Ser)
c.1204C>T (p.Pro402Ser)
c.1015C>T (p.Pro339Ser)
c.1345C>T (p.Pro449Ser)
dbSNP gnomAD v4
6g.107634641dupCA569564370SOBPc.1797dup (p.Gly600ArgfsTer?)
c.1950dup (p.Gly651ArgfsTer?)
c.1854dup (p.Gly619ArgfsTer?)
c.1836dup (p.Gly613ArgfsTer?)
c.1209dup (p.Gly404ArgfsTer?)
c.1020dup (p.Gly341ArgfsTer?)
c.1350dup (p.Gly451ArgfsTer?)
gnomAD v2 gnomAD v4
6g.107634641delCA569564369SOBPc.1797del (p.Gly600AlafsTer7)
c.1950del (p.Gly651AlafsTer7)
c.1854del (p.Gly619AlafsTer7)
c.1836del (p.Gly613AlafsTer7)
c.1209del (p.Gly404AlafsTer7)
c.1020del (p.Gly341AlafsTer7)
c.1350del (p.Gly451AlafsTer7)
gnomAD v2 gnomAD v4
6g.107634637C>ACA365171303SOBPc.1793C>A (p.Pro598His)
c.1946C>A (p.Pro649His)
c.1850C>A (p.Pro617His)
c.1832C>A (p.Pro611His)
c.1205C>A (p.Pro402His)
c.1016C>A (p.Pro339His)
c.1346C>A (p.Pro449His)
gnomAD v4
6g.107634637C=CA1653938983SOBPc.1793C= (p.Pro598=)
c.1946C= (p.Pro649=)
c.1850C= (p.Pro617=)
c.1832C= (p.Pro611=)
c.1205C= (p.Pro402=)
c.1016C= (p.Pro339=)
c.1346C= (p.Pro449=)
6g.107634637C>GCA365171304SOBPc.1793C>G (p.Pro598Arg)
c.1946C>G (p.Pro649Arg)
c.1850C>G (p.Pro617Arg)
c.1832C>G (p.Pro611Arg)
c.1205C>G (p.Pro402Arg)
c.1016C>G (p.Pro339Arg)
c.1346C>G (p.Pro449Arg)
6g.107634637C>TCA365171305SOBPc.1793C>T (p.Pro598Leu)
c.1946C>T (p.Pro649Leu)
c.1850C>T (p.Pro617Leu)
c.1832C>T (p.Pro611Leu)
c.1205C>T (p.Pro402Leu)
c.1016C>T (p.Pro339Leu)
c.1346C>T (p.Pro449Leu)
dbSNP gnomAD v4
6g.107634638C>ACA451581327SOBPc.1794C>A (p.Pro598=)
c.1947C>A (p.Pro649=)
c.1851C>A (p.Pro617=)
c.1833C>A (p.Pro611=)
c.1206C>A (p.Pro402=)
c.1017C>A (p.Pro339=)
c.1347C>A (p.Pro449=)
gnomAD v4
6g.107634638C=CA1653938987SOBPc.1794C= (p.Pro598=)
c.1947C= (p.Pro649=)
c.1851C= (p.Pro617=)
c.1833C= (p.Pro611=)
c.1206C= (p.Pro402=)
c.1017C= (p.Pro339=)
c.1347C= (p.Pro449=)
6g.107634638C>GCA3946587SOBPc.1794C>G (p.Pro598=)
c.1947C>G (p.Pro649=)
c.1851C>G (p.Pro617=)
c.1833C>G (p.Pro611=)
c.1206C>G (p.Pro402=)
c.1017C>G (p.Pro339=)
c.1347C>G (p.Pro449=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107634638C>TCA451581331SOBPc.1794C>T (p.Pro598=)
c.1947C>T (p.Pro649=)
c.1851C>T (p.Pro617=)
c.1833C>T (p.Pro611=)
c.1206C>T (p.Pro402=)
c.1017C>T (p.Pro339=)
c.1347C>T (p.Pro449=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634639C>ACA365171306SOBPc.1795C>A (p.Pro599Thr)
c.1948C>A (p.Pro650Thr)
c.1852C>A (p.Pro618Thr)
c.1834C>A (p.Pro612Thr)
c.1207C>A (p.Pro403Thr)
c.1018C>A (p.Pro340Thr)
c.1348C>A (p.Pro450Thr)
gnomAD v4
6g.107634639C>GCA365171307SOBPc.1795C>G (p.Pro599Ala)
c.1948C>G (p.Pro650Ala)
c.1852C>G (p.Pro618Ala)
c.1834C>G (p.Pro612Ala)
c.1207C>G (p.Pro403Ala)
c.1018C>G (p.Pro340Ala)
c.1348C>G (p.Pro450Ala)
gnomAD v4
6g.107634639C>TCA365171308SOBPc.1795C>T (p.Pro599Ser)
c.1948C>T (p.Pro650Ser)
c.1852C>T (p.Pro618Ser)
c.1834C>T (p.Pro612Ser)
c.1207C>T (p.Pro403Ser)
c.1018C>T (p.Pro340Ser)
c.1348C>T (p.Pro450Ser)
6g.107634640C>ACA365171309SOBPc.1796C>A (p.Pro599His)
c.1949C>A (p.Pro650His)
c.1853C>A (p.Pro618His)
c.1835C>A (p.Pro612His)
c.1208C>A (p.Pro403His)
c.1019C>A (p.Pro340His)
c.1349C>A (p.Pro450His)
gnomAD v4
6g.107634640C=CA1653938995SOBPc.1796C= (p.Pro599=)
c.1949C= (p.Pro650=)
c.1853C= (p.Pro618=)
c.1835C= (p.Pro612=)
c.1208C= (p.Pro403=)
c.1019C= (p.Pro340=)
c.1349C= (p.Pro450=)
6g.107634640C>GCA3946588SOBPc.1796C>G (p.Pro599Arg)
c.1949C>G (p.Pro650Arg)
c.1853C>G (p.Pro618Arg)
c.1835C>G (p.Pro612Arg)
c.1208C>G (p.Pro403Arg)
c.1019C>G (p.Pro340Arg)
c.1349C>G (p.Pro450Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107634640C>TCA365171310SOBPc.1796C>T (p.Pro599Leu)
c.1949C>T (p.Pro650Leu)
c.1853C>T (p.Pro618Leu)
c.1835C>T (p.Pro612Leu)
c.1208C>T (p.Pro403Leu)
c.1019C>T (p.Pro340Leu)
c.1349C>T (p.Pro450Leu)
gnomAD v4
6g.107634641C>ACA451581339SOBPc.1797C>A (p.Pro599=)
c.1950C>A (p.Pro650=)
c.1854C>A (p.Pro618=)
c.1836C>A (p.Pro612=)
c.1209C>A (p.Pro403=)
c.1020C>A (p.Pro340=)
c.1350C>A (p.Pro450=)
gnomAD v4
6g.107634641C=CA1653938999SOBPc.1797C= (p.Pro599=)
c.1950C= (p.Pro650=)
c.1854C= (p.Pro618=)
c.1836C= (p.Pro612=)
c.1209C= (p.Pro403=)
c.1020C= (p.Pro340=)
c.1350C= (p.Pro450=)
6g.107634641C>GCA3946590SOBPc.1797C>G (p.Pro599=)
c.1950C>G (p.Pro650=)
c.1854C>G (p.Pro618=)
c.1836C>G (p.Pro612=)
c.1209C>G (p.Pro403=)
c.1020C>G (p.Pro340=)
c.1350C>G (p.Pro450=)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.107634641C>TCA3946589SOBPc.1797C>T (p.Pro599=)
c.1950C>T (p.Pro650=)
c.1854C>T (p.Pro618=)
c.1836C>T (p.Pro612=)
c.1209C>T (p.Pro403=)
c.1020C>T (p.Pro340=)
c.1350C>T (p.Pro450=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107634642G>ACA365171311SOBPc.1798G>A (p.Gly600Ser)
c.1951G>A (p.Gly651Ser)
c.1855G>A (p.Gly619Ser)
c.1837G>A (p.Gly613Ser)
c.1210G>A (p.Gly404Ser)
c.1021G>A (p.Gly341Ser)
c.1351G>A (p.Gly451Ser)
dbSNP gnomAD v2 gnomAD v4
6g.107634642G>CCA365171312SOBPc.1798G>C (p.Gly600Arg)
c.1951G>C (p.Gly651Arg)
c.1855G>C (p.Gly619Arg)
c.1837G>C (p.Gly613Arg)
c.1210G>C (p.Gly404Arg)
c.1021G>C (p.Gly341Arg)
c.1351G>C (p.Gly451Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634642G=CA1653939005SOBPc.1798G= (p.Gly600=)
c.1951G= (p.Gly651=)
c.1855G= (p.Gly619=)
c.1837G= (p.Gly613=)
c.1210G= (p.Gly404=)
c.1021G= (p.Gly341=)
c.1351G= (p.Gly451=)
6g.107634642G>TCA365171313SOBPc.1798G>T (p.Gly600Cys)
c.1951G>T (p.Gly651Cys)
c.1855G>T (p.Gly619Cys)
c.1837G>T (p.Gly613Cys)
c.1210G>T (p.Gly404Cys)
c.1021G>T (p.Gly341Cys)
c.1351G>T (p.Gly451Cys)
gnomAD v4
6g.107634643G>ACA365171314SOBPc.1799G>A (p.Gly600Asp)
c.1952G>A (p.Gly651Asp)
c.1856G>A (p.Gly619Asp)
c.1838G>A (p.Gly613Asp)
c.1211G>A (p.Gly404Asp)
c.1022G>A (p.Gly341Asp)
c.1352G>A (p.Gly451Asp)
6g.107634643G>CCA365171315SOBPc.1799G>C (p.Gly600Ala)
c.1952G>C (p.Gly651Ala)
c.1856G>C (p.Gly619Ala)
c.1838G>C (p.Gly613Ala)
c.1211G>C (p.Gly404Ala)
c.1022G>C (p.Gly341Ala)
c.1352G>C (p.Gly451Ala)
dbSNP gnomAD v4
6g.107634643G=CA1653939008SOBPc.1799G= (p.Gly600=)
c.1952G= (p.Gly651=)
c.1856G= (p.Gly619=)
c.1838G= (p.Gly613=)
c.1211G= (p.Gly404=)
c.1022G= (p.Gly341=)
c.1352G= (p.Gly451=)
6g.107634643G>TCA365171316SOBPc.1799G>T (p.Gly600Val)
c.1952G>T (p.Gly651Val)
c.1856G>T (p.Gly619Val)
c.1838G>T (p.Gly613Val)
c.1211G>T (p.Gly404Val)
c.1022G>T (p.Gly341Val)
c.1352G>T (p.Gly451Val)
gnomAD v4
6g.107634644C>ACA451581340SOBPc.1800C>A (p.Gly600=)
c.1953C>A (p.Gly651=)
c.1857C>A (p.Gly619=)
c.1839C>A (p.Gly613=)
c.1212C>A (p.Gly404=)
c.1023C>A (p.Gly341=)
c.1353C>A (p.Gly451=)
gnomAD v4
6g.107634644C>GCA451581342SOBPc.1800C>G (p.Gly600=)
c.1953C>G (p.Gly651=)
c.1857C>G (p.Gly619=)
c.1839C>G (p.Gly613=)
c.1212C>G (p.Gly404=)
c.1023C>G (p.Gly341=)
c.1353C>G (p.Gly451=)
6g.107634644C>TCA451581343SOBPc.1800C>T (p.Gly600=)
c.1953C>T (p.Gly651=)
c.1857C>T (p.Gly619=)
c.1839C>T (p.Gly613=)
c.1212C>T (p.Gly404=)
c.1023C>T (p.Gly341=)
c.1353C>T (p.Gly451=)
dbSNP
6g.107634645T>ACA365171317SOBPc.1801T>A (p.Cys601Ser)
c.1954T>A (p.Cys652Ser)
c.1858T>A (p.Cys620Ser)
c.1840T>A (p.Cys614Ser)
c.1213T>A (p.Cys405Ser)
c.1024T>A (p.Cys342Ser)
c.1354T>A (p.Cys452Ser)
6g.107634645T>CCA365171318SOBPc.1801T>C (p.Cys601Arg)
c.1954T>C (p.Cys652Arg)
c.1858T>C (p.Cys620Arg)
c.1840T>C (p.Cys614Arg)
c.1213T>C (p.Cys405Arg)
c.1024T>C (p.Cys342Arg)
c.1354T>C (p.Cys452Arg)
gnomAD v4
6g.107634645T>GCA365171319SOBPc.1801T>G (p.Cys601Gly)
c.1954T>G (p.Cys652Gly)
c.1858T>G (p.Cys620Gly)
c.1840T>G (p.Cys614Gly)
c.1213T>G (p.Cys405Gly)
c.1024T>G (p.Cys342Gly)
c.1354T>G (p.Cys452Gly)
gnomAD v4
6g.107634646G>ACA365171320SOBPc.1802G>A (p.Cys601Tyr)
c.1955G>A (p.Cys652Tyr)
c.1859G>A (p.Cys620Tyr)
c.1841G>A (p.Cys614Tyr)
c.1214G>A (p.Cys405Tyr)
c.1025G>A (p.Cys342Tyr)
c.1355G>A (p.Cys452Tyr)
gnomAD v4
6g.107634646G>CCA3946591SOBPc.1802G>C (p.Cys601Ser)
c.1955G>C (p.Cys652Ser)
c.1859G>C (p.Cys620Ser)
c.1841G>C (p.Cys614Ser)
c.1214G>C (p.Cys405Ser)
c.1025G>C (p.Cys342Ser)
c.1355G>C (p.Cys452Ser)
dbSNP ExAC gnomAD v2
6g.107634646G=CA1653939012SOBPc.1802G= (p.Cys601=)
c.1955G= (p.Cys652=)
c.1859G= (p.Cys620=)
c.1841G= (p.Cys614=)
c.1214G= (p.Cys405=)
c.1025G= (p.Cys342=)
c.1355G= (p.Cys452=)
6g.107634646G>TCA365171321SOBPc.1802G>T (p.Cys601Phe)
c.1955G>T (p.Cys652Phe)
c.1859G>T (p.Cys620Phe)
c.1841G>T (p.Cys614Phe)
c.1214G>T (p.Cys405Phe)
c.1025G>T (p.Cys342Phe)
c.1355G>T (p.Cys452Phe)
gnomAD v4
6g.107634647C>ACA365171322SOBPc.1803C>A (p.Cys601Ter)
c.1956C>A (p.Cys652Ter)
c.1860C>A (p.Cys620Ter)
c.1842C>A (p.Cys614Ter)
c.1215C>A (p.Cys405Ter)
c.1026C>A (p.Cys342Ter)
c.1356C>A (p.Cys452Ter)
6g.107634647C=CA1653939015SOBPc.1803C= (p.Cys601=)
c.1956C= (p.Cys652=)
c.1860C= (p.Cys620=)
c.1842C= (p.Cys614=)
c.1215C= (p.Cys405=)
c.1026C= (p.Cys342=)
c.1356C= (p.Cys452=)
6g.107634647C>GCA365171323SOBPc.1803C>G (p.Cys601Trp)
c.1956C>G (p.Cys652Trp)
c.1860C>G (p.Cys620Trp)
c.1842C>G (p.Cys614Trp)
c.1215C>G (p.Cys405Trp)
c.1026C>G (p.Cys342Trp)
c.1356C>G (p.Cys452Trp)
gnomAD v4
6g.107634647C>TCA451581354SOBPc.1803C>T (p.Cys601=)
c.1956C>T (p.Cys652=)
c.1860C>T (p.Cys620=)
c.1842C>T (p.Cys614=)
c.1215C>T (p.Cys405=)
c.1026C>T (p.Cys342=)
c.1356C>T (p.Cys452=)
dbSNP gnomAD v2 gnomAD v4
6g.107634648T>ACA365171324SOBPc.1804T>A (p.Ser602Thr)
c.1957T>A (p.Ser653Thr)
c.1861T>A (p.Ser621Thr)
c.1843T>A (p.Ser615Thr)
c.1216T>A (p.Ser406Thr)
c.1027T>A (p.Ser343Thr)
c.1357T>A (p.Ser453Thr)
dbSNP gnomAD v3 gnomAD v4
6g.107634648T>CCA3946592SOBPc.1804T>C (p.Ser602Pro)
c.1957T>C (p.Ser653Pro)
c.1861T>C (p.Ser621Pro)
c.1843T>C (p.Ser615Pro)
c.1216T>C (p.Ser406Pro)
c.1027T>C (p.Ser343Pro)
c.1357T>C (p.Ser453Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.107634648T>GCA365171325SOBPc.1804T>G (p.Ser602Ala)
c.1957T>G (p.Ser653Ala)
c.1861T>G (p.Ser621Ala)
c.1843T>G (p.Ser615Ala)
c.1216T>G (p.Ser406Ala)
c.1027T>G (p.Ser343Ala)
c.1357T>G (p.Ser453Ala)
6g.107634648T=CA1653939021SOBPc.1804T= (p.Ser602=)
c.1957T= (p.Ser653=)
c.1861T= (p.Ser621=)
c.1843T= (p.Ser615=)
c.1216T= (p.Ser406=)
c.1027T= (p.Ser343=)
c.1357T= (p.Ser453=)
6g.107634649C>ACA365171326SOBPc.1805C>A (p.Ser602Ter)
c.1958C>A (p.Ser653Ter)
c.1862C>A (p.Ser621Ter)
c.1844C>A (p.Ser615Ter)
c.1217C>A (p.Ser406Ter)
c.1028C>A (p.Ser343Ter)
c.1358C>A (p.Ser453Ter)
6g.107634649C>GCA365171327SOBPc.1805C>G (p.Ser602Trp)
c.1958C>G (p.Ser653Trp)
c.1862C>G (p.Ser621Trp)
c.1844C>G (p.Ser615Trp)
c.1217C>G (p.Ser406Trp)
c.1028C>G (p.Ser343Trp)
c.1358C>G (p.Ser453Trp)
gnomAD v4
6g.107634649C>TCA365171328SOBPc.1805C>T (p.Ser602Leu)
c.1958C>T (p.Ser653Leu)
c.1862C>T (p.Ser621Leu)
c.1844C>T (p.Ser615Leu)
c.1217C>T (p.Ser406Leu)
c.1028C>T (p.Ser343Leu)
c.1358C>T (p.Ser453Leu)
gnomAD v4
6g.107634650G>ACA3946593SOBPc.1806G>A (p.Ser602=)
c.1959G>A (p.Ser653=)
c.1863G>A (p.Ser621=)
c.1845G>A (p.Ser615=)
c.1218G>A (p.Ser406=)
c.1029G>A (p.Ser343=)
c.1359G>A (p.Ser453=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107634650G>CCA451581362SOBPc.1806G>C (p.Ser602=)
c.1959G>C (p.Ser653=)
c.1863G>C (p.Ser621=)
c.1845G>C (p.Ser615=)
c.1218G>C (p.Ser406=)
c.1029G>C (p.Ser343=)
c.1359G>C (p.Ser453=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634650G=CA1653939027SOBPc.1806G= (p.Ser602=)
c.1959G= (p.Ser653=)
c.1863G= (p.Ser621=)
c.1845G= (p.Ser615=)
c.1218G= (p.Ser406=)
c.1029G= (p.Ser343=)
c.1359G= (p.Ser453=)
6g.107634650G>TCA451581358SOBPc.1806G>T (p.Ser602=)
c.1959G>T (p.Ser653=)
c.1863G>T (p.Ser621=)
c.1845G>T (p.Ser615=)
c.1218G>T (p.Ser406=)
c.1029G>T (p.Ser343=)
c.1359G>T (p.Ser453=)
gnomAD v4 COSMIC
6g.107634651G>ACA365171329SOBPc.1807G>A (p.Gly603Ser)
c.1960G>A (p.Gly654Ser)
c.1864G>A (p.Gly622Ser)
c.1846G>A (p.Gly616Ser)
c.1219G>A (p.Gly407Ser)
c.1030G>A (p.Gly344Ser)
c.1360G>A (p.Gly454Ser)
gnomAD v4
6g.107634651G>CCA365171330SOBPc.1807G>C (p.Gly603Arg)
c.1960G>C (p.Gly654Arg)
c.1864G>C (p.Gly622Arg)
c.1846G>C (p.Gly616Arg)
c.1219G>C (p.Gly407Arg)
c.1030G>C (p.Gly344Arg)
c.1360G>C (p.Gly454Arg)
gnomAD v4
6g.107634651G>TCA365171331SOBPc.1807G>T (p.Gly603Cys)
c.1960G>T (p.Gly654Cys)
c.1864G>T (p.Gly622Cys)
c.1846G>T (p.Gly616Cys)
c.1219G>T (p.Gly407Cys)
c.1030G>T (p.Gly344Cys)
c.1360G>T (p.Gly454Cys)
gnomAD v4
6g.107634652G>ACA145013730SOBPc.1808G>A (p.Gly603Asp)
c.1961G>A (p.Gly654Asp)
c.1865G>A (p.Gly622Asp)
c.1847G>A (p.Gly616Asp)
c.1220G>A (p.Gly407Asp)
c.1031G>A (p.Gly344Asp)
c.1361G>A (p.Gly454Asp)
dbSNP gnomAD v4
6g.107634652G>CCA365171332SOBPc.1808G>C (p.Gly603Ala)
c.1961G>C (p.Gly654Ala)
c.1865G>C (p.Gly622Ala)
c.1847G>C (p.Gly616Ala)
c.1220G>C (p.Gly407Ala)
c.1031G>C (p.Gly344Ala)
c.1361G>C (p.Gly454Ala)
6g.107634652G=CA1653939031SOBPc.1808G= (p.Gly603=)
c.1961G= (p.Gly654=)
c.1865G= (p.Gly622=)
c.1847G= (p.Gly616=)
c.1220G= (p.Gly407=)
c.1031G= (p.Gly344=)
c.1361G= (p.Gly454=)
6g.107634652G>TCA365171333SOBPc.1808G>T (p.Gly603Val)
c.1961G>T (p.Gly654Val)
c.1865G>T (p.Gly622Val)
c.1847G>T (p.Gly616Val)
c.1220G>T (p.Gly407Val)
c.1031G>T (p.Gly344Val)
c.1361G>T (p.Gly454Val)
gnomAD v4
6g.107634653C>ACA451581376SOBPc.1809C>A (p.Gly603=)
c.1962C>A (p.Gly654=)
c.1866C>A (p.Gly622=)
c.1848C>A (p.Gly616=)
c.1221C>A (p.Gly407=)
c.1032C>A (p.Gly344=)
c.1362C>A (p.Gly454=)
gnomAD v4
6g.107634653C=CA1653939033SOBPc.1809C= (p.Gly603=)
c.1962C= (p.Gly654=)
c.1866C= (p.Gly622=)
c.1848C= (p.Gly616=)
c.1221C= (p.Gly407=)
c.1032C= (p.Gly344=)
c.1362C= (p.Gly454=)
6g.107634653C>GCA451581377SOBPc.1809C>G (p.Gly603=)
c.1962C>G (p.Gly654=)
c.1866C>G (p.Gly622=)
c.1848C>G (p.Gly616=)
c.1221C>G (p.Gly407=)
c.1032C>G (p.Gly344=)
c.1362C>G (p.Gly454=)
6g.107634653C>TCA451581381SOBPc.1809C>T (p.Gly603=)
c.1962C>T (p.Gly654=)
c.1866C>T (p.Gly622=)
c.1848C>T (p.Gly616=)
c.1221C>T (p.Gly407=)
c.1032C>T (p.Gly344=)
c.1362C>T (p.Gly454=)
dbSNP
6g.107634654C>ACA231522SOBPc.1810C>A (p.Gln604Lys)
c.1963C>A (p.Gln655Lys)
c.1867C>A (p.Gln623Lys)
c.1849C>A (p.Gln617Lys)
c.1222C>A (p.Gln408Lys)
c.1033C>A (p.Gln345Lys)
c.1363C>A (p.Gln455Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107634654C=CA1653939039SOBPc.1810C= (p.Gln604=)
c.1963C= (p.Gln655=)
c.1867C= (p.Gln623=)
c.1849C= (p.Gln617=)
c.1222C= (p.Gln408=)
c.1033C= (p.Gln345=)
c.1363C= (p.Gln455=)
6g.107634654C>GCA365171334SOBPc.1810C>G (p.Gln604Glu)
c.1963C>G (p.Gln655Glu)
c.1867C>G (p.Gln623Glu)
c.1849C>G (p.Gln617Glu)
c.1222C>G (p.Gln408Glu)
c.1033C>G (p.Gln345Glu)
c.1363C>G (p.Gln455Glu)
6g.107634654C>TCA365171335SOBPc.1810C>T (p.Gln604Ter)
c.1963C>T (p.Gln655Ter)
c.1867C>T (p.Gln623Ter)
c.1849C>T (p.Gln617Ter)
c.1222C>T (p.Gln408Ter)
c.1033C>T (p.Gln345Ter)
c.1363C>T (p.Gln455Ter)
6g.107634655A>CCA365171336SOBPc.1811A>C (p.Gln604Pro)
c.1964A>C (p.Gln655Pro)
c.1868A>C (p.Gln623Pro)
c.1850A>C (p.Gln617Pro)
c.1223A>C (p.Gln408Pro)
c.1034A>C (p.Gln345Pro)
c.1364A>C (p.Gln455Pro)
6g.107634655A>GCA365171337SOBPc.1811A>G (p.Gln604Arg)
c.1964A>G (p.Gln655Arg)
c.1868A>G (p.Gln623Arg)
c.1850A>G (p.Gln617Arg)
c.1223A>G (p.Gln408Arg)
c.1034A>G (p.Gln345Arg)
c.1364A>G (p.Gln455Arg)
6g.107634655A>TCA365171338SOBPc.1811A>T (p.Gln604Leu)
c.1964A>T (p.Gln655Leu)
c.1868A>T (p.Gln623Leu)
c.1850A>T (p.Gln617Leu)
c.1223A>T (p.Gln408Leu)
c.1034A>T (p.Gln345Leu)
c.1364A>T (p.Gln455Leu)
6g.107634656G>ACA451581411SOBPc.1812G>A (p.Gln604=)
c.1965G>A (p.Gln655=)
c.1869G>A (p.Gln623=)
c.1851G>A (p.Gln617=)
c.1224G>A (p.Gln408=)
c.1035G>A (p.Gln345=)
c.1365G>A (p.Gln455=)
6g.107634656G>CCA365171339SOBPc.1812G>C (p.Gln604His)
c.1965G>C (p.Gln655His)
c.1869G>C (p.Gln623His)
c.1851G>C (p.Gln617His)
c.1224G>C (p.Gln408His)
c.1035G>C (p.Gln345His)
c.1365G>C (p.Gln455His)
6g.107634656G>TCA365171340SOBPc.1812G>T (p.Gln604His)
c.1965G>T (p.Gln655His)
c.1869G>T (p.Gln623His)
c.1851G>T (p.Gln617His)
c.1224G>T (p.Gln408His)
c.1035G>T (p.Gln345His)
c.1365G>T (p.Gln455His)
6g.107634657G>ACA3946594SOBPc.1813G>A (p.Ala605Thr)
c.1966G>A (p.Ala656Thr)
c.1870G>A (p.Ala624Thr)
c.1852G>A (p.Ala618Thr)
c.1225G>A (p.Ala409Thr)
c.1036G>A (p.Ala346Thr)
c.1366G>A (p.Ala456Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.107634657G>CCA365171341SOBPc.1813G>C (p.Ala605Pro)
c.1966G>C (p.Ala656Pro)
c.1870G>C (p.Ala624Pro)
c.1852G>C (p.Ala618Pro)
c.1225G>C (p.Ala409Pro)
c.1036G>C (p.Ala346Pro)
c.1366G>C (p.Ala456Pro)
gnomAD v4
6g.107634657G=CA1653939047SOBPc.1813G= (p.Ala605=)
c.1966G= (p.Ala656=)
c.1870G= (p.Ala624=)
c.1852G= (p.Ala618=)
c.1225G= (p.Ala409=)
c.1036G= (p.Ala346=)
c.1366G= (p.Ala456=)
6g.107634657G>TCA3946595SOBPc.1813G>T (p.Ala605Ser)
c.1966G>T (p.Ala656Ser)
c.1870G>T (p.Ala624Ser)
c.1852G>T (p.Ala618Ser)
c.1225G>T (p.Ala409Ser)
c.1036G>T (p.Ala346Ser)
c.1366G>T (p.Ala456Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.107634661_107634680dupCA2679876747SOBPc.1817_1836dup (p.Ala613Ter)
c.1970_1989dup (p.Ala664Ter)
c.1874_1893dup (p.Ala632Ter)
c.1856_1875dup (p.Ala626Ter)
c.1229_1248dup (p.Ala417Ter)
c.1040_1059dup (p.Ala354Ter)
c.1370_1389dup (p.Ala464Ter)
gnomAD v4
6g.107634660_107634683delCA2679876746SOBPc.1816_1839del (p.Leu606_Ala613del)
c.1969_1992del (p.Leu657_Ala664del)
c.1873_1896del (p.Leu625_Ala632del)
c.1855_1878del (p.Leu619_Ala626del)
c.1228_1251del (p.Leu410_Ala417del)
c.1039_1062del (p.Leu347_Ala354del)
c.1369_1392del (p.Leu457_Ala464del)
gnomAD v4
6g.107634658C>ACA365171342SOBPc.1814C>A (p.Ala605Asp)
c.1967C>A (p.Ala656Asp)
c.1871C>A (p.Ala624Asp)
c.1853C>A (p.Ala618Asp)
c.1226C>A (p.Ala409Asp)
c.1037C>A (p.Ala346Asp)
c.1367C>A (p.Ala456Asp)
6g.107634658C>GCA365171343SOBPc.1814C>G (p.Ala605Gly)
c.1967C>G (p.Ala656Gly)
c.1871C>G (p.Ala624Gly)
c.1853C>G (p.Ala618Gly)
c.1226C>G (p.Ala409Gly)
c.1037C>G (p.Ala346Gly)
c.1367C>G (p.Ala456Gly)
6g.107634658C>TCA365171344SOBPc.1814C>T (p.Ala605Val)
c.1967C>T (p.Ala656Val)
c.1871C>T (p.Ala624Val)
c.1853C>T (p.Ala618Val)
c.1226C>T (p.Ala409Val)
c.1037C>T (p.Ala346Val)
c.1367C>T (p.Ala456Val)
6g.107634659C>ACA451581428SOBPc.1815C>A (p.Ala605=)
c.1968C>A (p.Ala656=)
c.1872C>A (p.Ala624=)
c.1854C>A (p.Ala618=)
c.1227C>A (p.Ala409=)
c.1038C>A (p.Ala346=)
c.1368C>A (p.Ala456=)
6g.107634659C>GCA451581431SOBPc.1815C>G (p.Ala605=)
c.1968C>G (p.Ala656=)
c.1872C>G (p.Ala624=)
c.1854C>G (p.Ala618=)
c.1227C>G (p.Ala409=)
c.1038C>G (p.Ala346=)
c.1368C>G (p.Ala456=)
gnomAD v4
6g.107634659C>TCA451581438SOBPc.1815C>T (p.Ala605=)
c.1968C>T (p.Ala656=)
c.1872C>T (p.Ala624=)
c.1854C>T (p.Ala618=)
c.1227C>T (p.Ala409=)
c.1038C>T (p.Ala346=)
c.1368C>T (p.Ala456=)
6g.107634660C>ACA365171345SOBPc.1816C>A (p.Leu606Met)
c.1969C>A (p.Leu657Met)
c.1873C>A (p.Leu625Met)
c.1855C>A (p.Leu619Met)
c.1228C>A (p.Leu410Met)
c.1039C>A (p.Leu347Met)
c.1369C>A (p.Leu457Met)
6g.107634660C=CA1653939050SOBPc.1816C= (p.Leu606=)
c.1969C= (p.Leu657=)
c.1873C= (p.Leu625=)
c.1855C= (p.Leu619=)
c.1228C= (p.Leu410=)
c.1039C= (p.Leu347=)
c.1369C= (p.Leu457=)
6g.107634660C>GCA365171346SOBPc.1816C>G (p.Leu606Val)
c.1969C>G (p.Leu657Val)
c.1873C>G (p.Leu625Val)
c.1855C>G (p.Leu619Val)
c.1228C>G (p.Leu410Val)
c.1039C>G (p.Leu347Val)
c.1369C>G (p.Leu457Val)
dbSNP gnomAD v3 gnomAD v4
6g.107634660C>TCA451581440SOBPc.1816C>T (p.Leu606=)
c.1969C>T (p.Leu657=)
c.1873C>T (p.Leu625=)
c.1855C>T (p.Leu619=)
c.1228C>T (p.Leu410=)
c.1039C>T (p.Leu347=)
c.1369C>T (p.Leu457=)
dbSNP gnomAD v4
6g.107634661T>ACA3946596SOBPc.1817T>A (p.Leu606Gln)
c.1970T>A (p.Leu657Gln)
c.1874T>A (p.Leu625Gln)
c.1856T>A (p.Leu619Gln)
c.1229T>A (p.Leu410Gln)
c.1040T>A (p.Leu347Gln)
c.1370T>A (p.Leu457Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107634661T>CCA365171348SOBPc.1817T>C (p.Leu606Pro)
c.1970T>C (p.Leu657Pro)
c.1874T>C (p.Leu625Pro)
c.1856T>C (p.Leu619Pro)
c.1229T>C (p.Leu410Pro)
c.1040T>C (p.Leu347Pro)
c.1370T>C (p.Leu457Pro)
gnomAD v4
6g.107634661T>GCA365171347SOBPc.1817T>G (p.Leu606Arg)
c.1970T>G (p.Leu657Arg)
c.1874T>G (p.Leu625Arg)
c.1856T>G (p.Leu619Arg)
c.1229T>G (p.Leu410Arg)
c.1040T>G (p.Leu347Arg)
c.1370T>G (p.Leu457Arg)
dbSNP
6g.107634661T=CA1653939052SOBPc.1817T= (p.Leu606=)
c.1970T= (p.Leu657=)
c.1874T= (p.Leu625=)
c.1856T= (p.Leu619=)
c.1229T= (p.Leu410=)
c.1040T= (p.Leu347=)
c.1370T= (p.Leu457=)
6g.107634662G>ACA3946597SOBPc.1818G>A (p.Leu606=)
c.1971G>A (p.Leu657=)
c.1875G>A (p.Leu625=)
c.1857G>A (p.Leu619=)
c.1230G>A (p.Leu410=)
c.1041G>A (p.Leu347=)
c.1371G>A (p.Leu457=)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.107634662G>CCA451581443SOBPc.1818G>C (p.Leu606=)
c.1971G>C (p.Leu657=)
c.1875G>C (p.Leu625=)
c.1857G>C (p.Leu619=)
c.1230G>C (p.Leu410=)
c.1041G>C (p.Leu347=)
c.1371G>C (p.Leu457=)
gnomAD v4
6g.107634662G=CA1653939055SOBPc.1818G= (p.Leu606=)
c.1971G= (p.Leu657=)
c.1875G= (p.Leu625=)
c.1857G= (p.Leu619=)
c.1230G= (p.Leu410=)
c.1041G= (p.Leu347=)
c.1371G= (p.Leu457=)
6g.107634662G>TCA451581444SOBPc.1818G>T (p.Leu606=)
c.1971G>T (p.Leu657=)
c.1875G>T (p.Leu625=)
c.1857G>T (p.Leu619=)
c.1230G>T (p.Leu410=)
c.1041G>T (p.Leu347=)
c.1371G>T (p.Leu457=)
dbSNP gnomAD v4
6g.107634663A=CA1653939058SOBPc.1819A= (p.Ser607=)
c.1972A= (p.Ser658=)
c.1876A= (p.Ser626=)
c.1858A= (p.Ser620=)
c.1231A= (p.Ser411=)
c.1042A= (p.Ser348=)
c.1372A= (p.Ser458=)
6g.107634663A>CCA365171349SOBPc.1819A>C (p.Ser607Arg)
c.1972A>C (p.Ser658Arg)
c.1876A>C (p.Ser626Arg)
c.1858A>C (p.Ser620Arg)
c.1231A>C (p.Ser411Arg)
c.1042A>C (p.Ser348Arg)
c.1372A>C (p.Ser458Arg)
6g.107634663A>GCA365171351SOBPc.1819A>G (p.Ser607Gly)
c.1972A>G (p.Ser658Gly)
c.1876A>G (p.Ser626Gly)
c.1858A>G (p.Ser620Gly)
c.1231A>G (p.Ser411Gly)
c.1042A>G (p.Ser348Gly)
c.1372A>G (p.Ser458Gly)
dbSNP gnomAD v4
6g.107634663A>TCA365171350SOBPc.1819A>T (p.Ser607Cys)
c.1972A>T (p.Ser658Cys)
c.1876A>T (p.Ser626Cys)
c.1858A>T (p.Ser620Cys)
c.1231A>T (p.Ser411Cys)
c.1042A>T (p.Ser348Cys)
c.1372A>T (p.Ser458Cys)

Number of alleles fetched