Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.107634836delCA2679876765SOBPc.1992del (p.His665ThrfsTer3)
c.2145del (p.His716ThrfsTer3)
c.2049del (p.His684ThrfsTer3)
c.2031del (p.His678ThrfsTer3)
c.1404del (p.His469ThrfsTer3)
c.1215del (p.His406ThrfsTer3)
c.1545del (p.His516ThrfsTer3)
 gnomAD v4
6g.107634836G>ACA451581892SOBPc.1992G>A (p.Leu664=)
c.2145G>A (p.Leu715=)
c.2049G>A (p.Leu683=)
c.2031G>A (p.Leu677=)
c.1404G>A (p.Leu468=)
c.1215G>A (p.Leu405=)
c.1545G>A (p.Leu515=)
 dbSNP gnomAD v2 gnomAD v4
6g.107634836G>CCA451581894SOBPc.1992G>C (p.Leu664=)
c.2145G>C (p.Leu715=)
c.2049G>C (p.Leu683=)
c.2031G>C (p.Leu677=)
c.1404G>C (p.Leu468=)
c.1215G>C (p.Leu405=)
c.1545G>C (p.Leu515=)
 gnomAD v4
6g.107634836G=CA1653939361SOBPc.1992G= (p.Leu664=)
c.2145G= (p.Leu715=)
c.2049G= (p.Leu683=)
c.2031G= (p.Leu677=)
c.1404G= (p.Leu468=)
c.1215G= (p.Leu405=)
c.1545G= (p.Leu515=)
6g.107634836G>TCA451581893SOBPc.1992G>T (p.Leu664=)
c.2145G>T (p.Leu715=)
c.2049G>T (p.Leu683=)
c.2031G>T (p.Leu677=)
c.1404G>T (p.Leu468=)
c.1215G>T (p.Leu405=)
c.1545G>T (p.Leu515=)
 gnomAD v4
6g.107634837C>ACA365171699SOBPc.1993C>A (p.His665Asn)
c.2146C>A (p.His716Asn)
c.2050C>A (p.His684Asn)
c.2032C>A (p.His678Asn)
c.1405C>A (p.His469Asn)
c.1216C>A (p.His406Asn)
c.1546C>A (p.His516Asn)
 gnomAD v4
6g.107634837C>GCA365171700SOBPc.1993C>G (p.His665Asp)
c.2146C>G (p.His716Asp)
c.2050C>G (p.His684Asp)
c.2032C>G (p.His678Asp)
c.1405C>G (p.His469Asp)
c.1216C>G (p.His406Asp)
c.1546C>G (p.His516Asp)
 gnomAD v4
6g.107634837C>TCA365171701SOBPc.1993C>T (p.His665Tyr)
c.2146C>T (p.His716Tyr)
c.2050C>T (p.His684Tyr)
c.2032C>T (p.His678Tyr)
c.1405C>T (p.His469Tyr)
c.1216C>T (p.His406Tyr)
c.1546C>T (p.His516Tyr)
 gnomAD v4
6g.107634838A>CCA365171704SOBPc.1994A>C (p.His665Pro)
c.2147A>C (p.His716Pro)
c.2051A>C (p.His684Pro)
c.2033A>C (p.His678Pro)
c.1406A>C (p.His469Pro)
c.1217A>C (p.His406Pro)
c.1547A>C (p.His516Pro)
6g.107634838A>GCA365171703SOBPc.1994A>G (p.His665Arg)
c.2147A>G (p.His716Arg)
c.2051A>G (p.His684Arg)
c.2033A>G (p.His678Arg)
c.1406A>G (p.His469Arg)
c.1217A>G (p.His406Arg)
c.1547A>G (p.His516Arg)
 dbSNP gnomAD v4
6g.107634838A>TCA365171702SOBPc.1994A>T (p.His665Leu)
c.2147A>T (p.His716Leu)
c.2051A>T (p.His684Leu)
c.2033A>T (p.His678Leu)
c.1406A>T (p.His469Leu)
c.1217A>T (p.His406Leu)
c.1547A>T (p.His516Leu)
6g.107634839C>ACA365171705SOBPc.1995C>A (p.His665Gln)
c.2148C>A (p.His716Gln)
c.2052C>A (p.His684Gln)
c.2034C>A (p.His678Gln)
c.1407C>A (p.His469Gln)
c.1218C>A (p.His406Gln)
c.1548C>A (p.His516Gln)
 gnomAD v4
6g.107634839C>GCA365171706SOBPc.1995C>G (p.His665Gln)
c.2148C>G (p.His716Gln)
c.2052C>G (p.His684Gln)
c.2034C>G (p.His678Gln)
c.1407C>G (p.His469Gln)
c.1218C>G (p.His406Gln)
c.1548C>G (p.His516Gln)
 gnomAD v4
6g.107634839C>TCA451581898SOBPc.1995C>T (p.His665=)
c.2148C>T (p.His716=)
c.2052C>T (p.His684=)
c.2034C>T (p.His678=)
c.1407C>T (p.His469=)
c.1218C>T (p.His406=)
c.1548C>T (p.His516=)
 gnomAD v4
6g.107634840A>CCA365171707SOBPc.1996A>C (p.Asn666His)
c.2149A>C (p.Asn717His)
c.2053A>C (p.Asn685His)
c.2035A>C (p.Asn679His)
c.1408A>C (p.Asn470His)
c.1219A>C (p.Asn407His)
c.1549A>C (p.Asn517His)
6g.107634840A>GCA365171709SOBPc.1996A>G (p.Asn666Asp)
c.2149A>G (p.Asn717Asp)
c.2053A>G (p.Asn685Asp)
c.2035A>G (p.Asn679Asp)
c.1408A>G (p.Asn470Asp)
c.1219A>G (p.Asn407Asp)
c.1549A>G (p.Asn517Asp)
 gnomAD v4
6g.107634840A>TCA365171708SOBPc.1996A>T (p.Asn666Tyr)
c.2149A>T (p.Asn717Tyr)
c.2053A>T (p.Asn685Tyr)
c.2035A>T (p.Asn679Tyr)
c.1408A>T (p.Asn470Tyr)
c.1219A>T (p.Asn407Tyr)
c.1549A>T (p.Asn517Tyr)
 gnomAD v4
6g.107634841A>CCA365171710SOBPc.1997A>C (p.Asn666Thr)
c.2150A>C (p.Asn717Thr)
c.2054A>C (p.Asn685Thr)
c.2036A>C (p.Asn679Thr)
c.1409A>C (p.Asn470Thr)
c.1220A>C (p.Asn407Thr)
c.1550A>C (p.Asn517Thr)
6g.107634841A>GCA365171711SOBPc.1997A>G (p.Asn666Ser)
c.2150A>G (p.Asn717Ser)
c.2054A>G (p.Asn685Ser)
c.2036A>G (p.Asn679Ser)
c.1409A>G (p.Asn470Ser)
c.1220A>G (p.Asn407Ser)
c.1550A>G (p.Asn517Ser)
 gnomAD v4
6g.107634841A>TCA365171712SOBPc.1997A>T (p.Asn666Ile)
c.2150A>T (p.Asn717Ile)
c.2054A>T (p.Asn685Ile)
c.2036A>T (p.Asn679Ile)
c.1409A>T (p.Asn470Ile)
c.1220A>T (p.Asn407Ile)
c.1550A>T (p.Asn517Ile)
 gnomAD v4
6g.107634842C>ACA365171713SOBPc.1998C>A (p.Asn666Lys)
c.2151C>A (p.Asn717Lys)
c.2055C>A (p.Asn685Lys)
c.2037C>A (p.Asn679Lys)
c.1410C>A (p.Asn470Lys)
c.1221C>A (p.Asn407Lys)
c.1551C>A (p.Asn517Lys)
 dbSNP gnomAD v4
6g.107634842C=CA1653939362SOBPc.1998C= (p.Asn666=)
c.2151C= (p.Asn717=)
c.2055C= (p.Asn685=)
c.2037C= (p.Asn679=)
c.1410C= (p.Asn470=)
c.1221C= (p.Asn407=)
c.1551C= (p.Asn517=)
6g.107634842C>GCA365171714SOBPc.1998C>G (p.Asn666Lys)
c.2151C>G (p.Asn717Lys)
c.2055C>G (p.Asn685Lys)
c.2037C>G (p.Asn679Lys)
c.1410C>G (p.Asn470Lys)
c.1221C>G (p.Asn407Lys)
c.1551C>G (p.Asn517Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634842C>TCA451581901SOBPc.1998C>T (p.Asn666=)
c.2151C>T (p.Asn717=)
c.2055C>T (p.Asn685=)
c.2037C>T (p.Asn679=)
c.1410C>T (p.Asn470=)
c.1221C>T (p.Asn407=)
c.1551C>T (p.Asn517=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634843G>ACA365171715SOBPc.1999G>A (p.Val667Met)
c.2152G>A (p.Val718Met)
c.2056G>A (p.Val686Met)
c.2038G>A (p.Val680Met)
c.1411G>A (p.Val471Met)
c.1222G>A (p.Val408Met)
c.1552G>A (p.Val518Met)
 dbSNP gnomAD v4 COSMIC
6g.107634843G>CCA365171716SOBPc.1999G>C (p.Val667Leu)
c.2152G>C (p.Val718Leu)
c.2056G>C (p.Val686Leu)
c.2038G>C (p.Val680Leu)
c.1411G>C (p.Val471Leu)
c.1222G>C (p.Val408Leu)
c.1552G>C (p.Val518Leu)
6g.107634843G>TCA365171717SOBPc.1999G>T (p.Val667Leu)
c.2152G>T (p.Val718Leu)
c.2056G>T (p.Val686Leu)
c.2038G>T (p.Val680Leu)
c.1411G>T (p.Val471Leu)
c.1222G>T (p.Val408Leu)
c.1552G>T (p.Val518Leu)
 gnomAD v4
6g.107634844T>ACA365171718SOBPc.2000T>A (p.Val667Glu)
c.2153T>A (p.Val718Glu)
c.2057T>A (p.Val686Glu)
c.2039T>A (p.Val680Glu)
c.1412T>A (p.Val471Glu)
c.1223T>A (p.Val408Glu)
c.1553T>A (p.Val518Glu)
6g.107634844T>CCA365171719SOBPc.2000T>C (p.Val667Ala)
c.2153T>C (p.Val718Ala)
c.2057T>C (p.Val686Ala)
c.2039T>C (p.Val680Ala)
c.1412T>C (p.Val471Ala)
c.1223T>C (p.Val408Ala)
c.1553T>C (p.Val518Ala)
 gnomAD v4
6g.107634844T>GCA365171720SOBPc.2000T>G (p.Val667Gly)
c.2153T>G (p.Val718Gly)
c.2057T>G (p.Val686Gly)
c.2039T>G (p.Val680Gly)
c.1412T>G (p.Val471Gly)
c.1223T>G (p.Val408Gly)
c.1553T>G (p.Val518Gly)
 ClinVar gnomAD v4
6g.107634845G>ACA451581907SOBPc.2001G>A (p.Val667=)
c.2154G>A (p.Val718=)
c.2058G>A (p.Val686=)
c.2040G>A (p.Val680=)
c.1413G>A (p.Val471=)
c.1224G>A (p.Val408=)
c.1554G>A (p.Val518=)
 gnomAD v4
6g.107634845G>CCA451581908SOBPc.2001G>C (p.Val667=)
c.2154G>C (p.Val718=)
c.2058G>C (p.Val686=)
c.2040G>C (p.Val680=)
c.1413G>C (p.Val471=)
c.1224G>C (p.Val408=)
c.1554G>C (p.Val518=)
 gnomAD v4
6g.107634845G>TCA451581909SOBPc.2001G>T (p.Val667=)
c.2154G>T (p.Val718=)
c.2058G>T (p.Val686=)
c.2040G>T (p.Val680=)
c.1413G>T (p.Val471=)
c.1224G>T (p.Val408=)
c.1554G>T (p.Val518=)
 gnomAD v4
6g.107634846A>CCA365171723SOBPc.2002A>C (p.Ile668Leu)
c.2155A>C (p.Ile719Leu)
c.2059A>C (p.Ile687Leu)
c.2041A>C (p.Ile681Leu)
c.1414A>C (p.Ile472Leu)
c.1225A>C (p.Ile409Leu)
c.1555A>C (p.Ile519Leu)
6g.107634846A>GCA365171722SOBPc.2002A>G (p.Ile668Val)
c.2155A>G (p.Ile719Val)
c.2059A>G (p.Ile687Val)
c.2041A>G (p.Ile681Val)
c.1414A>G (p.Ile472Val)
c.1225A>G (p.Ile409Val)
c.1555A>G (p.Ile519Val)
 gnomAD v4
6g.107634846A>TCA365171721SOBPc.2002A>T (p.Ile668Phe)
c.2155A>T (p.Ile719Phe)
c.2059A>T (p.Ile687Phe)
c.2041A>T (p.Ile681Phe)
c.1414A>T (p.Ile472Phe)
c.1225A>T (p.Ile409Phe)
c.1555A>T (p.Ile519Phe)
 gnomAD v4
6g.107634847delCA2679876766SOBPc.2003del (p.Ile668ThrfsTer?)
c.2156del (p.Ile719ThrfsTer?)
c.2060del (p.Ile687ThrfsTer?)
c.2042del (p.Ile681ThrfsTer?)
c.1415del (p.Ile472ThrfsTer?)
c.1226del (p.Ile409ThrfsTer?)
c.1556del (p.Ile519ThrfsTer?)
 gnomAD v4
6g.107634847T>ACA365171724SOBPc.2003T>A (p.Ile668Asn)
c.2156T>A (p.Ile719Asn)
c.2060T>A (p.Ile687Asn)
c.2042T>A (p.Ile681Asn)
c.1415T>A (p.Ile472Asn)
c.1226T>A (p.Ile409Asn)
c.1556T>A (p.Ile519Asn)
6g.107634847T>CCA365171725SOBPc.2003T>C (p.Ile668Thr)
c.2156T>C (p.Ile719Thr)
c.2060T>C (p.Ile687Thr)
c.2042T>C (p.Ile681Thr)
c.1415T>C (p.Ile472Thr)
c.1226T>C (p.Ile409Thr)
c.1556T>C (p.Ile519Thr)
 gnomAD v4
6g.107634847T>GCA365171726SOBPc.2003T>G (p.Ile668Ser)
c.2156T>G (p.Ile719Ser)
c.2060T>G (p.Ile687Ser)
c.2042T>G (p.Ile681Ser)
c.1415T>G (p.Ile472Ser)
c.1226T>G (p.Ile409Ser)
c.1556T>G (p.Ile519Ser)
6g.107634848C>ACA451581910SOBPc.2004C>A (p.Ile668=)
c.2157C>A (p.Ile719=)
c.2061C>A (p.Ile687=)
c.2043C>A (p.Ile681=)
c.1416C>A (p.Ile472=)
c.1227C>A (p.Ile409=)
c.1557C>A (p.Ile519=)
 gnomAD v4
6g.107634848C>GCA365171727SOBPc.2004C>G (p.Ile668Met)
c.2157C>G (p.Ile719Met)
c.2061C>G (p.Ile687Met)
c.2043C>G (p.Ile681Met)
c.1416C>G (p.Ile472Met)
c.1227C>G (p.Ile409Met)
c.1557C>G (p.Ile519Met)
 gnomAD v4
6g.107634848C>TCA451581911SOBPc.2004C>T (p.Ile668=)
c.2157C>T (p.Ile719=)
c.2061C>T (p.Ile687=)
c.2043C>T (p.Ile681=)
c.1416C>T (p.Ile472=)
c.1227C>T (p.Ile409=)
c.1557C>T (p.Ile519=)
 gnomAD v4
6g.107634849delCA2679876767SOBPc.2005del (p.His669ThrfsTer?)
c.2158del (p.His720ThrfsTer?)
c.2062del (p.His688ThrfsTer?)
c.2044del (p.His682ThrfsTer?)
c.1417del (p.His473ThrfsTer?)
c.1228del (p.His410ThrfsTer?)
c.1558del (p.His520ThrfsTer?)
 gnomAD v4
6g.107634849C>ACA365171728SOBPc.2005C>A (p.His669Asn)
c.2158C>A (p.His720Asn)
c.2062C>A (p.His688Asn)
c.2044C>A (p.His682Asn)
c.1417C>A (p.His473Asn)
c.1228C>A (p.His410Asn)
c.1558C>A (p.His520Asn)
 gnomAD v4
6g.107634849C=CA1653939364SOBPc.2005C= (p.His669=)
c.2158C= (p.His720=)
c.2062C= (p.His688=)
c.2044C= (p.His682=)
c.1417C= (p.His473=)
c.1228C= (p.His410=)
c.1558C= (p.His520=)
6g.107634849C>GCA365171729SOBPc.2005C>G (p.His669Asp)
c.2158C>G (p.His720Asp)
c.2062C>G (p.His688Asp)
c.2044C>G (p.His682Asp)
c.1417C>G (p.His473Asp)
c.1228C>G (p.His410Asp)
c.1558C>G (p.His520Asp)
 gnomAD v4
6g.107634849C>TCA365171730SOBPc.2005C>T (p.His669Tyr)
c.2158C>T (p.His720Tyr)
c.2062C>T (p.His688Tyr)
c.2044C>T (p.His682Tyr)
c.1417C>T (p.His473Tyr)
c.1228C>T (p.His410Tyr)
c.1558C>T (p.His520Tyr)
 ClinVar dbSNP gnomAD v4
6g.107634850A=CA1653939365SOBPc.2006A= (p.His669=)
c.2159A= (p.His720=)
c.2063A= (p.His688=)
c.2045A= (p.His682=)
c.1418A= (p.His473=)
c.1229A= (p.His410=)
c.1559A= (p.His520=)
6g.107634850A>CCA365171731SOBPc.2006A>C (p.His669Pro)
c.2159A>C (p.His720Pro)
c.2063A>C (p.His688Pro)
c.2045A>C (p.His682Pro)
c.1418A>C (p.His473Pro)
c.1229A>C (p.His410Pro)
c.1559A>C (p.His520Pro)
6g.107634850A>GCA365171732SOBPc.2006A>G (p.His669Arg)
c.2159A>G (p.His720Arg)
c.2063A>G (p.His688Arg)
c.2045A>G (p.His682Arg)
c.1418A>G (p.His473Arg)
c.1229A>G (p.His410Arg)
c.1559A>G (p.His520Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634850A>TCA365171733SOBPc.2006A>T (p.His669Leu)
c.2159A>T (p.His720Leu)
c.2063A>T (p.His688Leu)
c.2045A>T (p.His682Leu)
c.1418A>T (p.His473Leu)
c.1229A>T (p.His410Leu)
c.1559A>T (p.His520Leu)
6g.107634851C>ACA365171734SOBPc.2007C>A (p.His669Gln)
c.2160C>A (p.His720Gln)
c.2064C>A (p.His688Gln)
c.2046C>A (p.His682Gln)
c.1419C>A (p.His473Gln)
c.1230C>A (p.His410Gln)
c.1560C>A (p.His520Gln)
 gnomAD v4
6g.107634851C>GCA365171735SOBPc.2007C>G (p.His669Gln)
c.2160C>G (p.His720Gln)
c.2064C>G (p.His688Gln)
c.2046C>G (p.His682Gln)
c.1419C>G (p.His473Gln)
c.1230C>G (p.His410Gln)
c.1560C>G (p.His520Gln)
 gnomAD v4
6g.107634851C>TCA451581914SOBPc.2007C>T (p.His669=)
c.2160C>T (p.His720=)
c.2064C>T (p.His688=)
c.2046C>T (p.His682=)
c.1419C>T (p.His473=)
c.1230C>T (p.His410=)
c.1560C>T (p.His520=)
 gnomAD v4
6g.107634851_107634857delinsCCGCGCGCA1653939367SOBPc.2007_2013delinsCCGCGCG (p.His669=)
c.2160_2166delinsCCGCGCG (p.His720=)
c.2064_2070delinsCCGCGCG (p.His688=)
c.2046_2052delinsCCGCGCG (p.His682=)
c.1419_1425delinsCCGCGCG (p.His473=)
c.1230_1236delinsCCGCGCG (p.His410=)
c.1560_1566delinsCCGCGCG (p.His520=)
6g.107634851_107634859delinsCCGCGCGCTCA1653939368SOBPc.2007_2015delinsCCGCGCGCT (p.His669=)
c.2160_2168delinsCCGCGCGCT (p.His720=)
c.2064_2072delinsCCGCGCGCT (p.His688=)
c.2046_2054delinsCCGCGCGCT (p.His682=)
c.1419_1427delinsCCGCGCGCT (p.His473=)
c.1230_1238delinsCCGCGCGCT (p.His410=)
c.1560_1568delinsCCGCGCGCT (p.His520=)
6g.107634852C>ACA365171738SOBPc.2008C>A (p.Arg670Ser)
c.2161C>A (p.Arg721Ser)
c.2065C>A (p.Arg689Ser)
c.2047C>A (p.Arg683Ser)
c.1420C>A (p.Arg474Ser)
c.1231C>A (p.Arg411Ser)
c.1561C>A (p.Arg521Ser)
 gnomAD v4
6g.107634852C=CA1653939370SOBPc.2008C= (p.Arg670=)
c.2161C= (p.Arg721=)
c.2065C= (p.Arg689=)
c.2047C= (p.Arg683=)
c.1420C= (p.Arg474=)
c.1231C= (p.Arg411=)
c.1561C= (p.Arg521=)
6g.107634852C>GCA365171737SOBPc.2008C>G (p.Arg670Gly)
c.2161C>G (p.Arg721Gly)
c.2065C>G (p.Arg689Gly)
c.2047C>G (p.Arg683Gly)
c.1420C>G (p.Arg474Gly)
c.1231C>G (p.Arg411Gly)
c.1561C>G (p.Arg521Gly)
 gnomAD v4
6g.107634852C>TCA365171736SOBPc.2008C>T (p.Arg670Cys)
c.2161C>T (p.Arg721Cys)
c.2065C>T (p.Arg689Cys)
c.2047C>T (p.Arg683Cys)
c.1420C>T (p.Arg474Cys)
c.1231C>T (p.Arg411Cys)
c.1561C>T (p.Arg521Cys)
 dbSNP gnomAD v3 gnomAD v4
6g.107634853_107634858delCA1653939371SOBPc.2009_2014del (p.Arg670_Ala671del)
c.2162_2167del (p.Arg721_Ala722del)
c.2066_2071del (p.Arg689_Ala690del)
c.2048_2053del (p.Arg683_Ala684del)
c.1421_1426del (p.Arg474_Ala475del)
c.1232_1237del (p.Arg411_Ala412del)
c.1562_1567del (p.Arg521_Ala522del)
 dbSNP
6g.107634852_107634859delCA1092914425SOBPc.2008_2015del (p.Arg670AlafsTer?)
c.2161_2168del (p.Arg721AlafsTer?)
c.2065_2072del (p.Arg689AlafsTer?)
c.2047_2054del (p.Arg683AlafsTer?)
c.1420_1427del (p.Arg474AlafsTer?)
c.1231_1238del (p.Arg411AlafsTer?)
c.1561_1568del (p.Arg521AlafsTer?)
 dbSNP gnomAD v3 gnomAD v4
6g.107634853G>ACA365171739SOBPc.2009G>A (p.Arg670His)
c.2162G>A (p.Arg721His)
c.2066G>A (p.Arg689His)
c.2048G>A (p.Arg683His)
c.1421G>A (p.Arg474His)
c.1232G>A (p.Arg411His)
c.1562G>A (p.Arg521His)
 dbSNP gnomAD v3 gnomAD v4
6g.107634853G>CCA365171740SOBPc.2009G>C (p.Arg670Pro)
c.2162G>C (p.Arg721Pro)
c.2066G>C (p.Arg689Pro)
c.2048G>C (p.Arg683Pro)
c.1421G>C (p.Arg474Pro)
c.1232G>C (p.Arg411Pro)
c.1562G>C (p.Arg521Pro)
 dbSNP gnomAD v4
6g.107634853G=CA1653939373SOBPc.2009G= (p.Arg670=)
c.2162G= (p.Arg721=)
c.2066G= (p.Arg689=)
c.2048G= (p.Arg683=)
c.1421G= (p.Arg474=)
c.1232G= (p.Arg411=)
c.1562G= (p.Arg521=)
6g.107634853G>TCA365171741SOBPc.2009G>T (p.Arg670Leu)
c.2162G>T (p.Arg721Leu)
c.2066G>T (p.Arg689Leu)
c.2048G>T (p.Arg683Leu)
c.1421G>T (p.Arg474Leu)
c.1232G>T (p.Arg411Leu)
c.1562G>T (p.Arg521Leu)
 gnomAD v4
6g.107634854C>ACA451581917SOBPc.2010C>A (p.Arg670=)
c.2163C>A (p.Arg721=)
c.2067C>A (p.Arg689=)
c.2049C>A (p.Arg683=)
c.1422C>A (p.Arg474=)
c.1233C>A (p.Arg411=)
c.1563C>A (p.Arg521=)
 dbSNP gnomAD v3 gnomAD v4
6g.107634854C=CA1653939375SOBPc.2010C= (p.Arg670=)
c.2163C= (p.Arg721=)
c.2067C= (p.Arg689=)
c.2049C= (p.Arg683=)
c.1422C= (p.Arg474=)
c.1233C= (p.Arg411=)
c.1563C= (p.Arg521=)
6g.107634854C>GCA451581918SOBPc.2010C>G (p.Arg670=)
c.2163C>G (p.Arg721=)
c.2067C>G (p.Arg689=)
c.2049C>G (p.Arg683=)
c.1422C>G (p.Arg474=)
c.1233C>G (p.Arg411=)
c.1563C>G (p.Arg521=)
 dbSNP gnomAD v3 gnomAD v4
6g.107634854C>TCA451581922SOBPc.2010C>T (p.Arg670=)
c.2163C>T (p.Arg721=)
c.2067C>T (p.Arg689=)
c.2049C>T (p.Arg683=)
c.1422C>T (p.Arg474=)
c.1233C>T (p.Arg411=)
c.1563C>T (p.Arg521=)
 gnomAD v4
6g.107634855G>ACA365171742SOBPc.2011G>A (p.Ala671Thr)
c.2164G>A (p.Ala722Thr)
c.2068G>A (p.Ala690Thr)
c.2050G>A (p.Ala684Thr)
c.1423G>A (p.Ala475Thr)
c.1234G>A (p.Ala412Thr)
c.1564G>A (p.Ala522Thr)
 dbSNP gnomAD v4
6g.107634855G>CCA365171743SOBPc.2011G>C (p.Ala671Pro)
c.2164G>C (p.Ala722Pro)
c.2068G>C (p.Ala690Pro)
c.2050G>C (p.Ala684Pro)
c.1423G>C (p.Ala475Pro)
c.1234G>C (p.Ala412Pro)
c.1564G>C (p.Ala522Pro)
 gnomAD v4
6g.107634855G=CA1653939377SOBPc.2011G= (p.Ala671=)
c.2164G= (p.Ala722=)
c.2068G= (p.Ala690=)
c.2050G= (p.Ala684=)
c.1423G= (p.Ala475=)
c.1234G= (p.Ala412=)
c.1564G= (p.Ala522=)
6g.107634855G>TCA365171744SOBPc.2011G>T (p.Ala671Ser)
c.2164G>T (p.Ala722Ser)
c.2068G>T (p.Ala690Ser)
c.2050G>T (p.Ala684Ser)
c.1423G>T (p.Ala475Ser)
c.1234G>T (p.Ala412Ser)
c.1564G>T (p.Ala522Ser)
 gnomAD v4
6g.107634856C>ACA365171747SOBPc.2012C>A (p.Ala671Glu)
c.2165C>A (p.Ala722Glu)
c.2069C>A (p.Ala690Glu)
c.2051C>A (p.Ala684Glu)
c.1424C>A (p.Ala475Glu)
c.1235C>A (p.Ala412Glu)
c.1565C>A (p.Ala522Glu)
 gnomAD v4
6g.107634856C=CA1653939379SOBPc.2012C= (p.Ala671=)
c.2165C= (p.Ala722=)
c.2069C= (p.Ala690=)
c.2051C= (p.Ala684=)
c.1424C= (p.Ala475=)
c.1235C= (p.Ala412=)
c.1565C= (p.Ala522=)
6g.107634856C>GCA365171745SOBPc.2012C>G (p.Ala671Gly)
c.2165C>G (p.Ala722Gly)
c.2069C>G (p.Ala690Gly)
c.2051C>G (p.Ala684Gly)
c.1424C>G (p.Ala475Gly)
c.1235C>G (p.Ala412Gly)
c.1565C>G (p.Ala522Gly)
 dbSNP gnomAD v2 gnomAD v4
6g.107634856C>TCA365171746SOBPc.2012C>T (p.Ala671Val)
c.2165C>T (p.Ala722Val)
c.2069C>T (p.Ala690Val)
c.2051C>T (p.Ala684Val)
c.1424C>T (p.Ala475Val)
c.1235C>T (p.Ala412Val)
c.1565C>T (p.Ala522Val)
 dbSNP gnomAD v4
6g.107634857G>ACA451581929SOBPc.2013G>A (p.Ala671=)
c.2166G>A (p.Ala722=)
c.2070G>A (p.Ala690=)
c.2052G>A (p.Ala684=)
c.1425G>A (p.Ala475=)
c.1236G>A (p.Ala412=)
c.1566G>A (p.Ala522=)
 dbSNP gnomAD v4
6g.107634857G>CCA451581928SOBPc.2013G>C (p.Ala671=)
c.2166G>C (p.Ala722=)
c.2070G>C (p.Ala690=)
c.2052G>C (p.Ala684=)
c.1425G>C (p.Ala475=)
c.1236G>C (p.Ala412=)
c.1566G>C (p.Ala522=)
 gnomAD v4
6g.107634857G>TCA451581927SOBPc.2013G>T (p.Ala671=)
c.2166G>T (p.Ala722=)
c.2070G>T (p.Ala690=)
c.2052G>T (p.Ala684=)
c.1425G>T (p.Ala475=)
c.1236G>T (p.Ala412=)
c.1566G>T (p.Ala522=)
 gnomAD v4
6g.107634858C>ACA365171748SOBPc.2014C>A (p.Leu672Met)
c.2167C>A (p.Leu723Met)
c.2071C>A (p.Leu691Met)
c.2053C>A (p.Leu685Met)
c.1426C>A (p.Leu476Met)
c.1237C>A (p.Leu413Met)
c.1567C>A (p.Leu523Met)
 gnomAD v4
6g.107634858C=CA1653939381SOBPc.2014C= (p.Leu672=)
c.2167C= (p.Leu723=)
c.2071C= (p.Leu691=)
c.2053C= (p.Leu685=)
c.1426C= (p.Leu476=)
c.1237C= (p.Leu413=)
c.1567C= (p.Leu523=)
6g.107634858C>GCA365171749SOBPc.2014C>G (p.Leu672Val)
c.2167C>G (p.Leu723Val)
c.2071C>G (p.Leu691Val)
c.2053C>G (p.Leu685Val)
c.1426C>G (p.Leu476Val)
c.1237C>G (p.Leu413Val)
c.1567C>G (p.Leu523Val)
 dbSNP gnomAD v4
6g.107634858C>TCA451581930SOBPc.2014C>T (p.Leu672=)
c.2167C>T (p.Leu723=)
c.2071C>T (p.Leu691=)
c.2053C>T (p.Leu685=)
c.1426C>T (p.Leu476=)
c.1237C>T (p.Leu413=)
c.1567C>T (p.Leu523=)
 gnomAD v4
6g.107634859T>ACA365171750SOBPc.2015T>A (p.Leu672Gln)
c.2168T>A (p.Leu723Gln)
c.2072T>A (p.Leu691Gln)
c.2054T>A (p.Leu685Gln)
c.1427T>A (p.Leu476Gln)
c.1238T>A (p.Leu413Gln)
c.1568T>A (p.Leu523Gln)
 gnomAD v4
6g.107634859T>CCA365171751SOBPc.2015T>C (p.Leu672Pro)
c.2168T>C (p.Leu723Pro)
c.2072T>C (p.Leu691Pro)
c.2054T>C (p.Leu685Pro)
c.1427T>C (p.Leu476Pro)
c.1238T>C (p.Leu413Pro)
c.1568T>C (p.Leu523Pro)
 gnomAD v4
6g.107634859T>GCA365171752SOBPc.2015T>G (p.Leu672Arg)
c.2168T>G (p.Leu723Arg)
c.2072T>G (p.Leu691Arg)
c.2054T>G (p.Leu685Arg)
c.1427T>G (p.Leu476Arg)
c.1238T>G (p.Leu413Arg)
c.1568T>G (p.Leu523Arg)
 gnomAD v3 gnomAD v4
6g.107634860G>ACA451581932SOBPc.2016G>A (p.Leu672=)
c.2169G>A (p.Leu723=)
c.2073G>A (p.Leu691=)
c.2055G>A (p.Leu685=)
c.1428G>A (p.Leu476=)
c.1239G>A (p.Leu413=)
c.1569G>A (p.Leu523=)
 gnomAD v4
6g.107634860G>CCA451581933SOBPc.2016G>C (p.Leu672=)
c.2169G>C (p.Leu723=)
c.2073G>C (p.Leu691=)
c.2055G>C (p.Leu685=)
c.1428G>C (p.Leu476=)
c.1239G>C (p.Leu413=)
c.1569G>C (p.Leu523=)
 dbSNP gnomAD v4
6g.107634860G=CA1653939382SOBPc.2016G= (p.Leu672=)
c.2169G= (p.Leu723=)
c.2073G= (p.Leu691=)
c.2055G= (p.Leu685=)
c.1428G= (p.Leu476=)
c.1239G= (p.Leu413=)
c.1569G= (p.Leu523=)
6g.107634860G>TCA451581934SOBPc.2016G>T (p.Leu672=)
c.2169G>T (p.Leu723=)
c.2073G>T (p.Leu691=)
c.2055G>T (p.Leu685=)
c.1428G>T (p.Leu476=)
c.1239G>T (p.Leu413=)
c.1569G>T (p.Leu523=)
 gnomAD v4
6g.107634860_107634861insTCA1092914426SOBPc.2016_2017insT (p.His673SerfsTer?)
c.2169_2170insT (p.His724SerfsTer?)
c.2073_2074insT (p.His692SerfsTer?)
c.2055_2056insT (p.His686SerfsTer?)
c.1428_1429insT (p.His477SerfsTer?)
c.1239_1240insT (p.His414SerfsTer?)
c.1569_1570insT (p.His524SerfsTer?)
 dbSNP gnomAD v3 gnomAD v4
6g.107634861C>ACA365171753SOBPc.2017C>A (p.His673Asn)
c.2170C>A (p.His724Asn)
c.2074C>A (p.His692Asn)
c.2056C>A (p.His686Asn)
c.1429C>A (p.His477Asn)
c.1240C>A (p.His414Asn)
c.1570C>A (p.His524Asn)
 dbSNP gnomAD v4
6g.107634861C=CA1653939384SOBPc.2017C= (p.His673=)
c.2170C= (p.His724=)
c.2074C= (p.His692=)
c.2056C= (p.His686=)
c.1429C= (p.His477=)
c.1240C= (p.His414=)
c.1570C= (p.His524=)
6g.107634861C>GCA365171755SOBPc.2017C>G (p.His673Asp)
c.2170C>G (p.His724Asp)
c.2074C>G (p.His692Asp)
c.2056C>G (p.His686Asp)
c.1429C>G (p.His477Asp)
c.1240C>G (p.His414Asp)
c.1570C>G (p.His524Asp)
 gnomAD v4
6g.107634861C>TCA365171754SOBPc.2017C>T (p.His673Tyr)
c.2170C>T (p.His724Tyr)
c.2074C>T (p.His692Tyr)
c.2056C>T (p.His686Tyr)
c.1429C>T (p.His477Tyr)
c.1240C>T (p.His414Tyr)
c.1570C>T (p.His524Tyr)
 gnomAD v4
6g.107634862A>CCA365171756SOBPc.2018A>C (p.His673Pro)
c.2171A>C (p.His724Pro)
c.2075A>C (p.His692Pro)
c.2057A>C (p.His686Pro)
c.1430A>C (p.His477Pro)
c.1241A>C (p.His414Pro)
c.1571A>C (p.His524Pro)
6g.107634862A>GCA365171757SOBPc.2018A>G (p.His673Arg)
c.2171A>G (p.His724Arg)
c.2075A>G (p.His692Arg)
c.2057A>G (p.His686Arg)
c.1430A>G (p.His477Arg)
c.1241A>G (p.His414Arg)
c.1571A>G (p.His524Arg)
 gnomAD v4
6g.107634862A>TCA365171758SOBPc.2018A>T (p.His673Leu)
c.2171A>T (p.His724Leu)
c.2075A>T (p.His692Leu)
c.2057A>T (p.His686Leu)
c.1430A>T (p.His477Leu)
c.1241A>T (p.His414Leu)
c.1571A>T (p.His524Leu)
6g.107634862dupCA1092914427SOBPc.2018dup (p.His673GlnfsTer?)
c.2171dup (p.His724GlnfsTer?)
c.2075dup (p.His692GlnfsTer?)
c.2057dup (p.His686GlnfsTer?)
c.1430dup (p.His477GlnfsTer?)
c.1241dup (p.His414GlnfsTer?)
c.1571dup (p.His524GlnfsTer?)
 dbSNP gnomAD v3 gnomAD v4
6g.107634863C>ACA365171759SOBPc.2019C>A (p.His673Gln)
c.2172C>A (p.His724Gln)
c.2076C>A (p.His692Gln)
c.2058C>A (p.His686Gln)
c.1431C>A (p.His477Gln)
c.1242C>A (p.His414Gln)
c.1572C>A (p.His524Gln)
 gnomAD v4
6g.107634863C=CA1653939386SOBPc.2019C= (p.His673=)
c.2172C= (p.His724=)
c.2076C= (p.His692=)
c.2058C= (p.His686=)
c.1431C= (p.His477=)
c.1242C= (p.His414=)
c.1572C= (p.His524=)
6g.107634863C>GCA365171760SOBPc.2019C>G (p.His673Gln)
c.2172C>G (p.His724Gln)
c.2076C>G (p.His692Gln)
c.2058C>G (p.His686Gln)
c.1431C>G (p.His477Gln)
c.1242C>G (p.His414Gln)
c.1572C>G (p.His524Gln)
 dbSNP gnomAD v3 gnomAD v4
6g.107634863C>TCA451581937SOBPc.2019C>T (p.His673=)
c.2172C>T (p.His724=)
c.2076C>T (p.His692=)
c.2058C>T (p.His686=)
c.1431C>T (p.His477=)
c.1242C>T (p.His414=)
c.1572C>T (p.His524=)
 dbSNP gnomAD v3 gnomAD v4
6g.107634864G>ACA145013938SOBPc.2020G>A (p.Ala674Thr)
c.2173G>A (p.Ala725Thr)
c.2077G>A (p.Ala693Thr)
c.2059G>A (p.Ala687Thr)
c.1432G>A (p.Ala478Thr)
c.1243G>A (p.Ala415Thr)
c.1573G>A (p.Ala525Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634864G>CCA365171761SOBPc.2020G>C (p.Ala674Pro)
c.2173G>C (p.Ala725Pro)
c.2077G>C (p.Ala693Pro)
c.2059G>C (p.Ala687Pro)
c.1432G>C (p.Ala478Pro)
c.1243G>C (p.Ala415Pro)
c.1573G>C (p.Ala525Pro)
 gnomAD v4
6g.107634864G=CA1653939388SOBPc.2020G= (p.Ala674=)
c.2173G= (p.Ala725=)
c.2077G= (p.Ala693=)
c.2059G= (p.Ala687=)
c.1432G= (p.Ala478=)
c.1243G= (p.Ala415=)
c.1573G= (p.Ala525=)
6g.107634864G>TCA365171762SOBPc.2020G>T (p.Ala674Ser)
c.2173G>T (p.Ala725Ser)
c.2077G>T (p.Ala693Ser)
c.2059G>T (p.Ala687Ser)
c.1432G>T (p.Ala478Ser)
c.1243G>T (p.Ala415Ser)
c.1573G>T (p.Ala525Ser)
 gnomAD v4
6g.107634865C>ACA365171763SOBPc.2021C>A (p.Ala674Glu)
c.2174C>A (p.Ala725Glu)
c.2078C>A (p.Ala693Glu)
c.2060C>A (p.Ala687Glu)
c.1433C>A (p.Ala478Glu)
c.1244C>A (p.Ala415Glu)
c.1574C>A (p.Ala525Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634865C=CA1653939390SOBPc.2021C= (p.Ala674=)
c.2174C= (p.Ala725=)
c.2078C= (p.Ala693=)
c.2060C= (p.Ala687=)
c.1433C= (p.Ala478=)
c.1244C= (p.Ala415=)
c.1574C= (p.Ala525=)
6g.107634865C>GCA365171764SOBPc.2021C>G (p.Ala674Gly)
c.2174C>G (p.Ala725Gly)
c.2078C>G (p.Ala693Gly)
c.2060C>G (p.Ala687Gly)
c.1433C>G (p.Ala478Gly)
c.1244C>G (p.Ala415Gly)
c.1574C>G (p.Ala525Gly)
 dbSNP gnomAD v3 gnomAD v4
6g.107634865C>TCA365171765SOBPc.2021C>T (p.Ala674Val)
c.2174C>T (p.Ala725Val)
c.2078C>T (p.Ala693Val)
c.2060C>T (p.Ala687Val)
c.1433C>T (p.Ala478Val)
c.1244C>T (p.Ala415Val)
c.1574C>T (p.Ala525Val)
 gnomAD v4
6g.107634866G>ACA3946612SOBPc.2022G>A (p.Ala674=)
c.2175G>A (p.Ala725=)
c.2079G>A (p.Ala693=)
c.2061G>A (p.Ala687=)
c.1434G>A (p.Ala478=)
c.1245G>A (p.Ala415=)
c.1575G>A (p.Ala525=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107634866G>CCA451581944SOBPc.2022G>C (p.Ala674=)
c.2175G>C (p.Ala725=)
c.2079G>C (p.Ala693=)
c.2061G>C (p.Ala687=)
c.1434G>C (p.Ala478=)
c.1245G>C (p.Ala415=)
c.1575G>C (p.Ala525=)
 dbSNP gnomAD v3 gnomAD v4
6g.107634866G=CA1653939391SOBPc.2022G= (p.Ala674=)
c.2175G= (p.Ala725=)
c.2079G= (p.Ala693=)
c.2061G= (p.Ala687=)
c.1434G= (p.Ala478=)
c.1245G= (p.Ala415=)
c.1575G= (p.Ala525=)
6g.107634866G>TCA451581945SOBPc.2022G>T (p.Ala674=)
c.2175G>T (p.Ala725=)
c.2079G>T (p.Ala693=)
c.2061G>T (p.Ala687=)
c.1434G>T (p.Ala478=)
c.1245G>T (p.Ala415=)
c.1575G>T (p.Ala525=)
 gnomAD v4
6g.107634867C>ACA365171768SOBPc.2023C>A (p.His675Asn)
c.2176C>A (p.His726Asn)
c.2080C>A (p.His694Asn)
c.2062C>A (p.His688Asn)
c.1435C>A (p.His479Asn)
c.1246C>A (p.His416Asn)
c.1576C>A (p.His526Asn)
 gnomAD v4
6g.107634867C=CA1653939394SOBPc.2023C= (p.His675=)
c.2176C= (p.His726=)
c.2080C= (p.His694=)
c.2062C= (p.His688=)
c.1435C= (p.His479=)
c.1246C= (p.His416=)
c.1576C= (p.His526=)
6g.107634867C>GCA365171766SOBPc.2023C>G (p.His675Asp)
c.2176C>G (p.His726Asp)
c.2080C>G (p.His694Asp)
c.2062C>G (p.His688Asp)
c.1435C>G (p.His479Asp)
c.1246C>G (p.His416Asp)
c.1576C>G (p.His526Asp)
6g.107634867C>TCA365171767SOBPc.2023C>T (p.His675Tyr)
c.2176C>T (p.His726Tyr)
c.2080C>T (p.His694Tyr)
c.2062C>T (p.His688Tyr)
c.1435C>T (p.His479Tyr)
c.1246C>T (p.His416Tyr)
c.1576C>T (p.His526Tyr)
 dbSNP gnomAD v2 gnomAD v4
6g.107634868A>CCA365171769SOBPc.2024A>C (p.His675Pro)
c.2177A>C (p.His726Pro)
c.2081A>C (p.His694Pro)
c.2063A>C (p.His688Pro)
c.1436A>C (p.His479Pro)
c.1247A>C (p.His416Pro)
c.1577A>C (p.His526Pro)
6g.107634868A>GCA365171770SOBPc.2024A>G (p.His675Arg)
c.2177A>G (p.His726Arg)
c.2081A>G (p.His694Arg)
c.2063A>G (p.His688Arg)
c.1436A>G (p.His479Arg)
c.1247A>G (p.His416Arg)
c.1577A>G (p.His526Arg)
 gnomAD v4
6g.107634868A>TCA365171771SOBPc.2024A>T (p.His675Leu)
c.2177A>T (p.His726Leu)
c.2081A>T (p.His694Leu)
c.2063A>T (p.His688Leu)
c.1436A>T (p.His479Leu)
c.1247A>T (p.His416Leu)
c.1577A>T (p.His526Leu)
 gnomAD v4
6g.107634869C>ACA365171772SOBPc.2025C>A (p.His675Gln)
c.2178C>A (p.His726Gln)
c.2082C>A (p.His694Gln)
c.2064C>A (p.His688Gln)
c.1437C>A (p.His479Gln)
c.1248C>A (p.His416Gln)
c.1578C>A (p.His526Gln)
 ClinVar dbSNP gnomAD v4
6g.107634869C=CA1653939396SOBPc.2025C= (p.His675=)
c.2178C= (p.His726=)
c.2082C= (p.His694=)
c.2064C= (p.His688=)
c.1437C= (p.His479=)
c.1248C= (p.His416=)
c.1578C= (p.His526=)
6g.107634869C>GCA365171773SOBPc.2025C>G (p.His675Gln)
c.2178C>G (p.His726Gln)
c.2082C>G (p.His694Gln)
c.2064C>G (p.His688Gln)
c.1437C>G (p.His479Gln)
c.1248C>G (p.His416Gln)
c.1578C>G (p.His526Gln)
 gnomAD v4
6g.107634869C>TCA451581952SOBPc.2025C>T (p.His675=)
c.2178C>T (p.His726=)
c.2082C>T (p.His694=)
c.2064C>T (p.His688=)
c.1437C>T (p.His479=)
c.1248C>T (p.His416=)
c.1578C>T (p.His526=)
 gnomAD v4
6g.107634869dupCA2679876768SOBPc.2025dup (p.Val676ArgfsTer?)
c.2178dup (p.Val727ArgfsTer?)
c.2082dup (p.Val695ArgfsTer?)
c.2064dup (p.Val689ArgfsTer?)
c.1437dup (p.Val480ArgfsTer?)
c.1248dup (p.Val417ArgfsTer?)
c.1578dup (p.Val527ArgfsTer?)
 gnomAD v4
6g.107634870G>ACA365171774SOBPc.2026G>A (p.Val676Ile)
c.2179G>A (p.Val727Ile)
c.2083G>A (p.Val695Ile)
c.2065G>A (p.Val689Ile)
c.1438G>A (p.Val480Ile)
c.1249G>A (p.Val417Ile)
c.1579G>A (p.Val527Ile)
 dbSNP gnomAD v3 gnomAD v4
6g.107634870G>CCA365171775SOBPc.2026G>C (p.Val676Leu)
c.2179G>C (p.Val727Leu)
c.2083G>C (p.Val695Leu)
c.2065G>C (p.Val689Leu)
c.1438G>C (p.Val480Leu)
c.1249G>C (p.Val417Leu)
c.1579G>C (p.Val527Leu)
 gnomAD v4
6g.107634870G=CA1653939398SOBPc.2026G= (p.Val676=)
c.2179G= (p.Val727=)
c.2083G= (p.Val695=)
c.2065G= (p.Val689=)
c.1438G= (p.Val480=)
c.1249G= (p.Val417=)
c.1579G= (p.Val527=)
6g.107634870G>TCA365171776SOBPc.2026G>T (p.Val676Phe)
c.2179G>T (p.Val727Phe)
c.2083G>T (p.Val695Phe)
c.2065G>T (p.Val689Phe)
c.1438G>T (p.Val480Phe)
c.1249G>T (p.Val417Phe)
c.1579G>T (p.Val527Phe)
 dbSNP gnomAD v2 gnomAD v4
6g.107634871T>ACA365171777SOBPc.2027T>A (p.Val676Asp)
c.2180T>A (p.Val727Asp)
c.2084T>A (p.Val695Asp)
c.2066T>A (p.Val689Asp)
c.1439T>A (p.Val480Asp)
c.1250T>A (p.Val417Asp)
c.1580T>A (p.Val527Asp)
 gnomAD v4
6g.107634871T>CCA365171778SOBPc.2027T>C (p.Val676Ala)
c.2180T>C (p.Val727Ala)
c.2084T>C (p.Val695Ala)
c.2066T>C (p.Val689Ala)
c.1439T>C (p.Val480Ala)
c.1250T>C (p.Val417Ala)
c.1580T>C (p.Val527Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634871T>GCA365171779SOBPc.2027T>G (p.Val676Gly)
c.2180T>G (p.Val727Gly)
c.2084T>G (p.Val695Gly)
c.2066T>G (p.Val689Gly)
c.1439T>G (p.Val480Gly)
c.1250T>G (p.Val417Gly)
c.1580T>G (p.Val527Gly)
 dbSNP gnomAD v3 gnomAD v4
6g.107634871T=CA1653939399SOBPc.2027T= (p.Val676=)
c.2180T= (p.Val727=)
c.2084T= (p.Val695=)
c.2066T= (p.Val689=)
c.1439T= (p.Val480=)
c.1250T= (p.Val417=)
c.1580T= (p.Val527=)
6g.107634872C>ACA451581955SOBPc.2028C>A (p.Val676=)
c.2181C>A (p.Val727=)
c.2085C>A (p.Val695=)
c.2067C>A (p.Val689=)
c.1440C>A (p.Val480=)
c.1251C>A (p.Val417=)
c.1581C>A (p.Val527=)
 gnomAD v4
6g.107634872C>GCA451581956SOBPc.2028C>G (p.Val676=)
c.2181C>G (p.Val727=)
c.2085C>G (p.Val695=)
c.2067C>G (p.Val689=)
c.1440C>G (p.Val480=)
c.1251C>G (p.Val417=)
c.1581C>G (p.Val527=)
 gnomAD v4
6g.107634872C>TCA451581957SOBPc.2028C>T (p.Val676=)
c.2181C>T (p.Val727=)
c.2085C>T (p.Val695=)
c.2067C>T (p.Val689=)
c.1440C>T (p.Val480=)
c.1251C>T (p.Val417=)
c.1581C>T (p.Val527=)
 gnomAD v4
6g.107634873A>CCA365171782SOBPc.2029A>C (p.Lys677Gln)
c.2182A>C (p.Lys728Gln)
c.2086A>C (p.Lys696Gln)
c.2068A>C (p.Lys690Gln)
c.1441A>C (p.Lys481Gln)
c.1252A>C (p.Lys418Gln)
c.1582A>C (p.Lys528Gln)
 gnomAD v4
6g.107634873A>GCA365171781SOBPc.2029A>G (p.Lys677Glu)
c.2182A>G (p.Lys728Glu)
c.2086A>G (p.Lys696Glu)
c.2068A>G (p.Lys690Glu)
c.1441A>G (p.Lys481Glu)
c.1252A>G (p.Lys418Glu)
c.1582A>G (p.Lys528Glu)
 gnomAD v4
6g.107634873A>TCA365171780SOBPc.2029A>T (p.Lys677Ter)
c.2182A>T (p.Lys728Ter)
c.2086A>T (p.Lys696Ter)
c.2068A>T (p.Lys690Ter)
c.1441A>T (p.Lys481Ter)
c.1252A>T (p.Lys418Ter)
c.1582A>T (p.Lys528Ter)
6g.107634874delCA2679876769SOBPc.2030del (p.Lys677ArgfsTer?)
c.2183del (p.Lys728ArgfsTer?)
c.2087del (p.Lys696ArgfsTer?)
c.2069del (p.Lys690ArgfsTer?)
c.1442del (p.Lys481ArgfsTer?)
c.1253del (p.Lys418ArgfsTer?)
c.1583del (p.Lys528ArgfsTer?)
 gnomAD v4
6g.107634874A>CCA365171783SOBPc.2030A>C (p.Lys677Thr)
c.2183A>C (p.Lys728Thr)
c.2087A>C (p.Lys696Thr)
c.2069A>C (p.Lys690Thr)
c.1442A>C (p.Lys481Thr)
c.1253A>C (p.Lys418Thr)
c.1583A>C (p.Lys528Thr)
 gnomAD v4
6g.107634874A>GCA365171784SOBPc.2030A>G (p.Lys677Arg)
c.2183A>G (p.Lys728Arg)
c.2087A>G (p.Lys696Arg)
c.2069A>G (p.Lys690Arg)
c.1442A>G (p.Lys481Arg)
c.1253A>G (p.Lys418Arg)
c.1583A>G (p.Lys528Arg)
 gnomAD v4
6g.107634874A>TCA365171785SOBPc.2030A>T (p.Lys677Met)
c.2183A>T (p.Lys728Met)
c.2087A>T (p.Lys696Met)
c.2069A>T (p.Lys690Met)
c.1442A>T (p.Lys481Met)
c.1253A>T (p.Lys418Met)
c.1583A>T (p.Lys528Met)
 gnomAD v4
6g.107634875G>ACA451581961SOBPc.2031G>A (p.Lys677=)
c.2184G>A (p.Lys728=)
c.2088G>A (p.Lys696=)
c.2070G>A (p.Lys690=)
c.1443G>A (p.Lys481=)
c.1254G>A (p.Lys418=)
c.1584G>A (p.Lys528=)
 gnomAD v4
6g.107634875G>CCA365171786SOBPc.2031G>C (p.Lys677Asn)
c.2184G>C (p.Lys728Asn)
c.2088G>C (p.Lys696Asn)
c.2070G>C (p.Lys690Asn)
c.1443G>C (p.Lys481Asn)
c.1254G>C (p.Lys418Asn)
c.1584G>C (p.Lys528Asn)
 gnomAD v4
6g.107634875G>TCA365171787SOBPc.2031G>T (p.Lys677Asn)
c.2184G>T (p.Lys728Asn)
c.2088G>T (p.Lys696Asn)
c.2070G>T (p.Lys690Asn)
c.1443G>T (p.Lys481Asn)
c.1254G>T (p.Lys418Asn)
c.1584G>T (p.Lys528Asn)
 gnomAD v4
6g.107634876G>ACA365171788SOBPc.2032G>A (p.Ala678Thr)
c.2185G>A (p.Ala729Thr)
c.2089G>A (p.Ala697Thr)
c.2071G>A (p.Ala691Thr)
c.1444G>A (p.Ala482Thr)
c.1255G>A (p.Ala419Thr)
c.1585G>A (p.Ala529Thr)
 gnomAD v4
6g.107634876G>CCA365171789SOBPc.2032G>C (p.Ala678Pro)
c.2185G>C (p.Ala729Pro)
c.2089G>C (p.Ala697Pro)
c.2071G>C (p.Ala691Pro)
c.1444G>C (p.Ala482Pro)
c.1255G>C (p.Ala419Pro)
c.1585G>C (p.Ala529Pro)
 gnomAD v4
6g.107634876G>TCA365171790SOBPc.2032G>T (p.Ala678Ser)
c.2185G>T (p.Ala729Ser)
c.2089G>T (p.Ala697Ser)
c.2071G>T (p.Ala691Ser)
c.1444G>T (p.Ala482Ser)
c.1255G>T (p.Ala419Ser)
c.1585G>T (p.Ala529Ser)
 gnomAD v4
6g.107634885_107634905delCA2679876770SOBPc.2041_2061del (p.Glu681_Arg687del)
c.2194_2214del (p.Glu732_Arg738del)
c.2098_2118del (p.Glu700_Arg706del)
c.2080_2100del (p.Glu694_Arg700del)
c.1453_1473del (p.Glu485_Arg491del)
c.1264_1284del (p.Glu422_Arg428del)
c.1594_1614del (p.Glu532_Arg538del)
 gnomAD v4
6g.107634877delCA2679876771SOBPc.2033del (p.Ala678GlyfsTer?)
c.2186del (p.Ala729GlyfsTer?)
c.2090del (p.Ala697GlyfsTer?)
c.2072del (p.Ala691GlyfsTer?)
c.1445del (p.Ala482GlyfsTer?)
c.1256del (p.Ala419GlyfsTer?)
c.1586del (p.Ala529GlyfsTer?)
 gnomAD v4
6g.107634877C>ACA365171791SOBPc.2033C>A (p.Ala678Glu)
c.2186C>A (p.Ala729Glu)
c.2090C>A (p.Ala697Glu)
c.2072C>A (p.Ala691Glu)
c.1445C>A (p.Ala482Glu)
c.1256C>A (p.Ala419Glu)
c.1586C>A (p.Ala529Glu)
 gnomAD v4
6g.107634877C>GCA365171792SOBPc.2033C>G (p.Ala678Gly)
c.2186C>G (p.Ala729Gly)
c.2090C>G (p.Ala697Gly)
c.2072C>G (p.Ala691Gly)
c.1445C>G (p.Ala482Gly)
c.1256C>G (p.Ala419Gly)
c.1586C>G (p.Ala529Gly)
 gnomAD v4
6g.107634877C>TCA365171793SOBPc.2033C>T (p.Ala678Val)
c.2186C>T (p.Ala729Val)
c.2090C>T (p.Ala697Val)
c.2072C>T (p.Ala691Val)
c.1445C>T (p.Ala482Val)
c.1256C>T (p.Ala419Val)
c.1586C>T (p.Ala529Val)
 gnomAD v4
6g.107634878G>ACA451581967SOBPc.2034G>A (p.Ala678=)
c.2187G>A (p.Ala729=)
c.2091G>A (p.Ala697=)
c.2073G>A (p.Ala691=)
c.1446G>A (p.Ala482=)
c.1257G>A (p.Ala419=)
c.1587G>A (p.Ala529=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634878G>CCA451581964SOBPc.2034G>C (p.Ala678=)
c.2187G>C (p.Ala729=)
c.2091G>C (p.Ala697=)
c.2073G>C (p.Ala691=)
c.1446G>C (p.Ala482=)
c.1257G>C (p.Ala419=)
c.1587G>C (p.Ala529=)
 gnomAD v4
6g.107634878G=CA1653939401SOBPc.2034G= (p.Ala678=)
c.2187G= (p.Ala729=)
c.2091G= (p.Ala697=)
c.2073G= (p.Ala691=)
c.1446G= (p.Ala482=)
c.1257G= (p.Ala419=)
c.1587G= (p.Ala529=)
6g.107634878G>TCA451581966SOBPc.2034G>T (p.Ala678=)
c.2187G>T (p.Ala729=)
c.2091G>T (p.Ala697=)
c.2073G>T (p.Ala691=)
c.1446G>T (p.Ala482=)
c.1257G>T (p.Ala419=)
c.1587G>T (p.Ala529=)
 gnomAD v4
6g.107634879G>ACA365171794SOBPc.2035G>A (p.Glu679Lys)
c.2188G>A (p.Glu730Lys)
c.2092G>A (p.Glu698Lys)
c.2074G>A (p.Glu692Lys)
c.1447G>A (p.Glu483Lys)
c.1258G>A (p.Glu420Lys)
c.1588G>A (p.Glu530Lys)
 gnomAD v4
6g.107634879G>CCA365171795SOBPc.2035G>C (p.Glu679Gln)
c.2188G>C (p.Glu730Gln)
c.2092G>C (p.Glu698Gln)
c.2074G>C (p.Glu692Gln)
c.1447G>C (p.Glu483Gln)
c.1258G>C (p.Glu420Gln)
c.1588G>C (p.Glu530Gln)
6g.107634879G>TCA365171796SOBPc.2035G>T (p.Glu679Ter)
c.2188G>T (p.Glu730Ter)
c.2092G>T (p.Glu698Ter)
c.2074G>T (p.Glu692Ter)
c.1447G>T (p.Glu483Ter)
c.1258G>T (p.Glu420Ter)
c.1588G>T (p.Glu530Ter)
 gnomAD v4
6g.107634880A>CCA365171798SOBPc.2036A>C (p.Glu679Ala)
c.2189A>C (p.Glu730Ala)
c.2093A>C (p.Glu698Ala)
c.2075A>C (p.Glu692Ala)
c.1448A>C (p.Glu483Ala)
c.1259A>C (p.Glu420Ala)
c.1589A>C (p.Glu530Ala)
 gnomAD v4
6g.107634880A>GCA365171799SOBPc.2036A>G (p.Glu679Gly)
c.2189A>G (p.Glu730Gly)
c.2093A>G (p.Glu698Gly)
c.2075A>G (p.Glu692Gly)
c.1448A>G (p.Glu483Gly)
c.1259A>G (p.Glu420Gly)
c.1589A>G (p.Glu530Gly)
 gnomAD v4
6g.107634880A>TCA365171797SOBPc.2036A>T (p.Glu679Val)
c.2189A>T (p.Glu730Val)
c.2093A>T (p.Glu698Val)
c.2075A>T (p.Glu692Val)
c.1448A>T (p.Glu483Val)
c.1259A>T (p.Glu420Val)
c.1589A>T (p.Glu530Val)
 gnomAD v4
6g.107634881G>ACA451581974SOBPc.2037G>A (p.Glu679=)
c.2190G>A (p.Glu730=)
c.2094G>A (p.Glu698=)
c.2076G>A (p.Glu692=)
c.1449G>A (p.Glu483=)
c.1260G>A (p.Glu420=)
c.1590G>A (p.Glu530=)
 gnomAD v4
6g.107634881G>CCA365171800SOBPc.2037G>C (p.Glu679Asp)
c.2190G>C (p.Glu730Asp)
c.2094G>C (p.Glu698Asp)
c.2076G>C (p.Glu692Asp)
c.1449G>C (p.Glu483Asp)
c.1260G>C (p.Glu420Asp)
c.1590G>C (p.Glu530Asp)
 gnomAD v4
6g.107634881G=CA1653939403SOBPc.2037G= (p.Glu679=)
c.2190G= (p.Glu730=)
c.2094G= (p.Glu698=)
c.2076G= (p.Glu692=)
c.1449G= (p.Glu483=)
c.1260G= (p.Glu420=)
c.1590G= (p.Glu530=)
6g.107634881G>TCA365171801SOBPc.2037G>T (p.Glu679Asp)
c.2190G>T (p.Glu730Asp)
c.2094G>T (p.Glu698Asp)
c.2076G>T (p.Glu692Asp)
c.1449G>T (p.Glu483Asp)
c.1260G>T (p.Glu420Asp)
c.1590G>T (p.Glu530Asp)
 dbSNP gnomAD v2 gnomAD v4
6g.107634882C>ACA365171802SOBPc.2038C>A (p.Arg680Ser)
c.2191C>A (p.Arg731Ser)
c.2095C>A (p.Arg699Ser)
c.2077C>A (p.Arg693Ser)
c.1450C>A (p.Arg484Ser)
c.1261C>A (p.Arg421Ser)
c.1591C>A (p.Arg531Ser)
 gnomAD v4
6g.107634882C=CA1653939405SOBPc.2038C= (p.Arg680=)
c.2191C= (p.Arg731=)
c.2095C= (p.Arg699=)
c.2077C= (p.Arg693=)
c.1450C= (p.Arg484=)
c.1261C= (p.Arg421=)
c.1591C= (p.Arg531=)
6g.107634882C>GCA365171803SOBPc.2038C>G (p.Arg680Gly)
c.2191C>G (p.Arg731Gly)
c.2095C>G (p.Arg699Gly)
c.2077C>G (p.Arg693Gly)
c.1450C>G (p.Arg484Gly)
c.1261C>G (p.Arg421Gly)
c.1591C>G (p.Arg531Gly)
 gnomAD v4
6g.107634882C>TCA365171804SOBPc.2038C>T (p.Arg680Cys)
c.2191C>T (p.Arg731Cys)
c.2095C>T (p.Arg699Cys)
c.2077C>T (p.Arg693Cys)
c.1450C>T (p.Arg484Cys)
c.1261C>T (p.Arg421Cys)
c.1591C>T (p.Arg531Cys)
 dbSNP gnomAD v2 gnomAD v4
6g.107634883G>ACA365171805SOBPc.2039G>A (p.Arg680His)
c.2192G>A (p.Arg731His)
c.2096G>A (p.Arg699His)
c.2078G>A (p.Arg693His)
c.1451G>A (p.Arg484His)
c.1262G>A (p.Arg421His)
c.1592G>A (p.Arg531His)
 dbSNP gnomAD v2 gnomAD v4
6g.107634883G>CCA365171806SOBPc.2039G>C (p.Arg680Pro)
c.2192G>C (p.Arg731Pro)
c.2096G>C (p.Arg699Pro)
c.2078G>C (p.Arg693Pro)
c.1451G>C (p.Arg484Pro)
c.1262G>C (p.Arg421Pro)
c.1592G>C (p.Arg531Pro)
6g.107634883G=CA1653939407SOBPc.2039G= (p.Arg680=)
c.2192G= (p.Arg731=)
c.2096G= (p.Arg699=)
c.2078G= (p.Arg693=)
c.1451G= (p.Arg484=)
c.1262G= (p.Arg421=)
c.1592G= (p.Arg531=)
6g.107634883G>TCA365171807SOBPc.2039G>T (p.Arg680Leu)
c.2192G>T (p.Arg731Leu)
c.2096G>T (p.Arg699Leu)
c.2078G>T (p.Arg693Leu)
c.1451G>T (p.Arg484Leu)
c.1262G>T (p.Arg421Leu)
c.1592G>T (p.Arg531Leu)
 dbSNP gnomAD v2 gnomAD v4
6g.107634884C>ACA451581975SOBPc.2040C>A (p.Arg680=)
c.2193C>A (p.Arg731=)
c.2097C>A (p.Arg699=)
c.2079C>A (p.Arg693=)
c.1452C>A (p.Arg484=)
c.1263C>A (p.Arg421=)
c.1593C>A (p.Arg531=)
 dbSNP gnomAD v2 gnomAD v4
6g.107634884C=CA1653939409SOBPc.2040C= (p.Arg680=)
c.2193C= (p.Arg731=)
c.2097C= (p.Arg699=)
c.2079C= (p.Arg693=)
c.1452C= (p.Arg484=)
c.1263C= (p.Arg421=)
c.1593C= (p.Arg531=)
6g.107634884C>GCA451581977SOBPc.2040C>G (p.Arg680=)
c.2193C>G (p.Arg731=)
c.2097C>G (p.Arg699=)
c.2079C>G (p.Arg693=)
c.1452C>G (p.Arg484=)
c.1263C>G (p.Arg421=)
c.1593C>G (p.Arg531=)
 gnomAD v4
6g.107634884C>TCA451581979SOBPc.2040C>T (p.Arg680=)
c.2193C>T (p.Arg731=)
c.2097C>T (p.Arg699=)
c.2079C>T (p.Arg693=)
c.1452C>T (p.Arg484=)
c.1263C>T (p.Arg421=)
c.1593C>T (p.Arg531=)
 dbSNP gnomAD v2 gnomAD v4
6g.107634885G>ACA365171808SOBPc.2041G>A (p.Glu681Lys)
c.2194G>A (p.Glu732Lys)
c.2098G>A (p.Glu700Lys)
c.2080G>A (p.Glu694Lys)
c.1453G>A (p.Glu485Lys)
c.1264G>A (p.Glu422Lys)
c.1594G>A (p.Glu532Lys)
 dbSNP gnomAD v2 gnomAD v4
6g.107634885G>CCA365171809SOBPc.2041G>C (p.Glu681Gln)
c.2194G>C (p.Glu732Gln)
c.2098G>C (p.Glu700Gln)
c.2080G>C (p.Glu694Gln)
c.1453G>C (p.Glu485Gln)
c.1264G>C (p.Glu422Gln)
c.1594G>C (p.Glu532Gln)
6g.107634885G=CA1653939410SOBPc.2041G= (p.Glu681=)
c.2194G= (p.Glu732=)
c.2098G= (p.Glu700=)
c.2080G= (p.Glu694=)
c.1453G= (p.Glu485=)
c.1264G= (p.Glu422=)
c.1594G= (p.Glu532=)
6g.107634885G>TCA365171810SOBPc.2041G>T (p.Glu681Ter)
c.2194G>T (p.Glu732Ter)
c.2098G>T (p.Glu700Ter)
c.2080G>T (p.Glu694Ter)
c.1453G>T (p.Glu485Ter)
c.1264G>T (p.Glu422Ter)
c.1594G>T (p.Glu532Ter)
 dbSNP gnomAD v2 gnomAD v4
6g.107634886A=CA1653939412SOBPc.2042A= (p.Glu681=)
c.2195A= (p.Glu732=)
c.2099A= (p.Glu700=)
c.2081A= (p.Glu694=)
c.1454A= (p.Glu485=)
c.1265A= (p.Glu422=)
c.1595A= (p.Glu532=)
6g.107634886A>CCA365171811SOBPc.2042A>C (p.Glu681Ala)
c.2195A>C (p.Glu732Ala)
c.2099A>C (p.Glu700Ala)
c.2081A>C (p.Glu694Ala)
c.1454A>C (p.Glu485Ala)
c.1265A>C (p.Glu422Ala)
c.1595A>C (p.Glu532Ala)
6g.107634886A>GCA365171812SOBPc.2042A>G (p.Glu681Gly)
c.2195A>G (p.Glu732Gly)
c.2099A>G (p.Glu700Gly)
c.2081A>G (p.Glu694Gly)
c.1454A>G (p.Glu485Gly)
c.1265A>G (p.Glu422Gly)
c.1595A>G (p.Glu532Gly)
 dbSNP gnomAD v2 gnomAD v4
6g.107634886A>TCA365171813SOBPc.2042A>T (p.Glu681Val)
c.2195A>T (p.Glu732Val)
c.2099A>T (p.Glu700Val)
c.2081A>T (p.Glu694Val)
c.1454A>T (p.Glu485Val)
c.1265A>T (p.Glu422Val)
c.1595A>T (p.Glu532Val)
6g.107634887G>ACA451581983SOBPc.2043G>A (p.Glu681=)
c.2196G>A (p.Glu732=)
c.2100G>A (p.Glu700=)
c.2082G>A (p.Glu694=)
c.1455G>A (p.Glu485=)
c.1266G>A (p.Glu422=)
c.1596G>A (p.Glu532=)
 dbSNP gnomAD v2 gnomAD v4
6g.107634887G>CCA365171814SOBPc.2043G>C (p.Glu681Asp)
c.2196G>C (p.Glu732Asp)
c.2100G>C (p.Glu700Asp)
c.2082G>C (p.Glu694Asp)
c.1455G>C (p.Glu485Asp)
c.1266G>C (p.Glu422Asp)
c.1596G>C (p.Glu532Asp)
 gnomAD v4
6g.107634887G=CA1653939414SOBPc.2043G= (p.Glu681=)
c.2196G= (p.Glu732=)
c.2100G= (p.Glu700=)
c.2082G= (p.Glu694=)
c.1455G= (p.Glu485=)
c.1266G= (p.Glu422=)
c.1596G= (p.Glu532=)
6g.107634887G>TCA365171815SOBPc.2043G>T (p.Glu681Asp)
c.2196G>T (p.Glu732Asp)
c.2100G>T (p.Glu700Asp)
c.2082G>T (p.Glu694Asp)
c.1455G>T (p.Glu485Asp)
c.1266G>T (p.Glu422Asp)
c.1596G>T (p.Glu532Asp)
 gnomAD v4
6g.107634888C>ACA365171816SOBPc.2044C>A (p.Pro682Thr)
c.2197C>A (p.Pro733Thr)
c.2101C>A (p.Pro701Thr)
c.2083C>A (p.Pro695Thr)
c.1456C>A (p.Pro486Thr)
c.1267C>A (p.Pro423Thr)
c.1597C>A (p.Pro533Thr)
 dbSNP gnomAD v2 gnomAD v4
6g.107634888C=CA1653939416SOBPc.2044C= (p.Pro682=)
c.2197C= (p.Pro733=)
c.2101C= (p.Pro701=)
c.2083C= (p.Pro695=)
c.1456C= (p.Pro486=)
c.1267C= (p.Pro423=)
c.1597C= (p.Pro533=)
6g.107634888C>GCA365171817SOBPc.2044C>G (p.Pro682Ala)
c.2197C>G (p.Pro733Ala)
c.2101C>G (p.Pro701Ala)
c.2083C>G (p.Pro695Ala)
c.1456C>G (p.Pro486Ala)
c.1267C>G (p.Pro423Ala)
c.1597C>G (p.Pro533Ala)
 gnomAD v4
6g.107634888C>TCA365171818SOBPc.2044C>T (p.Pro682Ser)
c.2197C>T (p.Pro733Ser)
c.2101C>T (p.Pro701Ser)
c.2083C>T (p.Pro695Ser)
c.1456C>T (p.Pro486Ser)
c.1267C>T (p.Pro423Ser)
c.1597C>T (p.Pro533Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.107634889delCA2772523132SOBPc.2045del (p.Pro682ArgfsTer?)
c.2198del (p.Pro733ArgfsTer?)
c.2102del (p.Pro701ArgfsTer?)
c.2084del (p.Pro695ArgfsTer?)
c.1457del (p.Pro486ArgfsTer?)
c.1268del (p.Pro423ArgfsTer?)
c.1598del (p.Pro533ArgfsTer?)
6g.107634889C>ACA365171819SOBPc.2045C>A (p.Pro682Gln)
c.2198C>A (p.Pro733Gln)
c.2102C>A (p.Pro701Gln)
c.2084C>A (p.Pro695Gln)
c.1457C>A (p.Pro486Gln)
c.1268C>A (p.Pro423Gln)
c.1598C>A (p.Pro533Gln)
 dbSNP gnomAD v2 gnomAD v4
6g.107634889C=CA1653939418SOBPc.2045C= (p.Pro682=)
c.2198C= (p.Pro733=)
c.2102C= (p.Pro701=)
c.2084C= (p.Pro695=)
c.1457C= (p.Pro486=)
c.1268C= (p.Pro423=)
c.1598C= (p.Pro533=)
6g.107634889C>GCA365171820SOBPc.2045C>G (p.Pro682Arg)
c.2198C>G (p.Pro733Arg)
c.2102C>G (p.Pro701Arg)
c.2084C>G (p.Pro695Arg)
c.1457C>G (p.Pro486Arg)
c.1268C>G (p.Pro423Arg)
c.1598C>G (p.Pro533Arg)
 dbSNP gnomAD v2 gnomAD v4
6g.107634889C>TCA365171821SOBPc.2045C>T (p.Pro682Leu)
c.2198C>T (p.Pro733Leu)
c.2102C>T (p.Pro701Leu)
c.2084C>T (p.Pro695Leu)
c.1457C>T (p.Pro486Leu)
c.1268C>T (p.Pro423Leu)
c.1598C>T (p.Pro533Leu)
 dbSNP gnomAD v3 gnomAD v4
6g.107634890G>ACA451581985SOBPc.2046G>A (p.Pro682=)
c.2199G>A (p.Pro733=)
c.2103G>A (p.Pro701=)
c.2085G>A (p.Pro695=)
c.1458G>A (p.Pro486=)
c.1269G>A (p.Pro423=)
c.1599G>A (p.Pro533=)
 dbSNP gnomAD v2 gnomAD v4
6g.107634890G>CCA451581986SOBPc.2046G>C (p.Pro682=)
c.2199G>C (p.Pro733=)
c.2103G>C (p.Pro701=)
c.2085G>C (p.Pro695=)
c.1458G>C (p.Pro486=)
c.1269G>C (p.Pro423=)
c.1599G>C (p.Pro533=)
 gnomAD v4
6g.107634890G=CA1653939420SOBPc.2046G= (p.Pro682=)
c.2199G= (p.Pro733=)
c.2103G= (p.Pro701=)
c.2085G= (p.Pro695=)
c.1458G= (p.Pro486=)
c.1269G= (p.Pro423=)
c.1599G= (p.Pro533=)
6g.107634890G>TCA451581988SOBPc.2046G>T (p.Pro682=)
c.2199G>T (p.Pro733=)
c.2103G>T (p.Pro701=)
c.2085G>T (p.Pro695=)
c.1458G>T (p.Pro486=)
c.1269G>T (p.Pro423=)
c.1599G>T (p.Pro533=)
 dbSNP gnomAD v2 gnomAD v4
6g.107634890_107634891insGGCGCCGCGGCA2679876772SOBPc.2046_2047insGGCGCCGCGG (p.Ser683GlyfsTer?)
c.2199_2200insGGCGCCGCGG (p.Ser734GlyfsTer?)
c.2103_2104insGGCGCCGCGG (p.Ser702GlyfsTer?)
c.2085_2086insGGCGCCGCGG (p.Ser696GlyfsTer?)
c.1458_1459insGGCGCCGCGG (p.Ser487GlyfsTer?)
c.1269_1270insGGCGCCGCGG (p.Ser424GlyfsTer?)
c.1599_1600insGGCGCCGCGG (p.Ser534GlyfsTer?)
 gnomAD v4
6g.107634891delCA2679876773SOBPc.2047del (p.Ser683AlafsTer?)
c.2200del (p.Ser734AlafsTer?)
c.2104del (p.Ser702AlafsTer?)
c.2086del (p.Ser696AlafsTer?)
c.1459del (p.Ser487AlafsTer?)
c.1270del (p.Ser424AlafsTer?)
c.1600del (p.Ser534AlafsTer?)
 gnomAD v4
6g.107634891A=CA1653939422SOBPc.2047A= (p.Ser683=)
c.2200A= (p.Ser734=)
c.2104A= (p.Ser702=)
c.2086A= (p.Ser696=)
c.1459A= (p.Ser487=)
c.1270A= (p.Ser424=)
c.1600A= (p.Ser534=)
6g.107634891A>CCA365171822SOBPc.2047A>C (p.Ser683Arg)
c.2200A>C (p.Ser734Arg)
c.2104A>C (p.Ser702Arg)
c.2086A>C (p.Ser696Arg)
c.1459A>C (p.Ser487Arg)
c.1270A>C (p.Ser424Arg)
c.1600A>C (p.Ser534Arg)
 gnomAD v4
6g.107634891A>GCA155268SOBPc.2047A>G (p.Ser683Gly)
c.2200A>G (p.Ser734Gly)
c.2104A>G (p.Ser702Gly)
c.2086A>G (p.Ser696Gly)
c.1459A>G (p.Ser487Gly)
c.1270A>G (p.Ser424Gly)
c.1600A>G (p.Ser534Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107634891A>TCA365171823SOBPc.2047A>T (p.Ser683Cys)
c.2200A>T (p.Ser734Cys)
c.2104A>T (p.Ser702Cys)
c.2086A>T (p.Ser696Cys)
c.1459A>T (p.Ser487Cys)
c.1270A>T (p.Ser424Cys)
c.1600A>T (p.Ser534Cys)
 gnomAD v4
6g.107634892G>ACA365171824SOBPc.2048G>A (p.Ser683Asn)
c.2201G>A (p.Ser734Asn)
c.2105G>A (p.Ser702Asn)
c.2087G>A (p.Ser696Asn)
c.1460G>A (p.Ser487Asn)
c.1271G>A (p.Ser424Asn)
c.1601G>A (p.Ser534Asn)
 dbSNP gnomAD v2 gnomAD v4
6g.107634892G>CCA365171825SOBPc.2048G>C (p.Ser683Thr)
c.2201G>C (p.Ser734Thr)
c.2105G>C (p.Ser702Thr)
c.2087G>C (p.Ser696Thr)
c.1460G>C (p.Ser487Thr)
c.1271G>C (p.Ser424Thr)
c.1601G>C (p.Ser534Thr)
6g.107634892G=CA1653939425SOBPc.2048G= (p.Ser683=)
c.2201G= (p.Ser734=)
c.2105G= (p.Ser702=)
c.2087G= (p.Ser696=)
c.1460G= (p.Ser487=)
c.1271G= (p.Ser424=)
c.1601G= (p.Ser534=)
6g.107634892G>TCA365171826SOBPc.2048G>T (p.Ser683Ile)
c.2201G>T (p.Ser734Ile)
c.2105G>T (p.Ser702Ile)
c.2087G>T (p.Ser696Ile)
c.1460G>T (p.Ser487Ile)
c.1271G>T (p.Ser424Ile)
c.1601G>T (p.Ser534Ile)
 gnomAD v4
6g.107634895_107634896insGAGCCGGGCGCCA2679876774SOBPc.2051_2052insGAGCCGGGCGC (p.Ala685SerfsTer?)
c.2204_2205insGAGCCGGGCGC (p.Ala736SerfsTer?)
c.2108_2109insGAGCCGGGCGC (p.Ala704SerfsTer?)
c.2090_2091insGAGCCGGGCGC (p.Ala698SerfsTer?)
c.1463_1464insGAGCCGGGCGC (p.Ala489SerfsTer?)
c.1274_1275insGAGCCGGGCGC (p.Ala426SerfsTer?)
c.1604_1605insGAGCCGGGCGC (p.Ala536SerfsTer?)
 gnomAD v4
6g.107634892_107634893insACACA2772523139SOBPc.2048_2049insACA (p.Ser683delinsArgHis)
c.2201_2202insACA (p.Ser734delinsArgHis)
c.2105_2106insACA (p.Ser702delinsArgHis)
c.2087_2088insACA (p.Ser696delinsArgHis)
c.1460_1461insACA (p.Ser487delinsArgHis)
c.1271_1272insACA (p.Ser424delinsArgHis)
c.1601_1602insACA (p.Ser534delinsArgHis)
6g.107634893C>ACA365171828SOBPc.2049C>A (p.Ser683Arg)
c.2202C>A (p.Ser734Arg)
c.2106C>A (p.Ser702Arg)
c.2088C>A (p.Ser696Arg)
c.1461C>A (p.Ser487Arg)
c.1272C>A (p.Ser424Arg)
c.1602C>A (p.Ser534Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634893C=CA1653939426SOBPc.2049C= (p.Ser683=)
c.2202C= (p.Ser734=)
c.2106C= (p.Ser702=)
c.2088C= (p.Ser696=)
c.1461C= (p.Ser487=)
c.1272C= (p.Ser424=)
c.1602C= (p.Ser534=)
6g.107634893C>GCA365171827SOBPc.2049C>G (p.Ser683Arg)
c.2202C>G (p.Ser734Arg)
c.2106C>G (p.Ser702Arg)
c.2088C>G (p.Ser696Arg)
c.1461C>G (p.Ser487Arg)
c.1272C>G (p.Ser424Arg)
c.1602C>G (p.Ser534Arg)
 gnomAD v4
6g.107634893C>TCA145013949SOBPc.2049C>T (p.Ser683=)
c.2202C>T (p.Ser734=)
c.2106C>T (p.Ser702=)
c.2088C>T (p.Ser696=)
c.1461C>T (p.Ser487=)
c.1272C>T (p.Ser424=)
c.1602C>T (p.Ser534=)
 dbSNP gnomAD v2 gnomAD v4
6g.107634894G>ACA365171829SOBPc.2050G>A (p.Ala684Thr)
c.2203G>A (p.Ala735Thr)
c.2107G>A (p.Ala703Thr)
c.2089G>A (p.Ala697Thr)
c.1462G>A (p.Ala488Thr)
c.1273G>A (p.Ala425Thr)
c.1603G>A (p.Ala535Thr)
 dbSNP gnomAD v2 gnomAD v4
6g.107634894G>CCA365171831SOBPc.2050G>C (p.Ala684Pro)
c.2203G>C (p.Ala735Pro)
c.2107G>C (p.Ala703Pro)
c.2089G>C (p.Ala697Pro)
c.1462G>C (p.Ala488Pro)
c.1273G>C (p.Ala425Pro)
c.1603G>C (p.Ala535Pro)
 gnomAD v4
6g.107634894G=CA1653939428SOBPc.2050G= (p.Ala684=)
c.2203G= (p.Ala735=)
c.2107G= (p.Ala703=)
c.2089G= (p.Ala697=)
c.1462G= (p.Ala488=)
c.1273G= (p.Ala425=)
c.1603G= (p.Ala535=)
6g.107634894G>TCA365171830SOBPc.2050G>T (p.Ala684Ser)
c.2203G>T (p.Ala735Ser)
c.2107G>T (p.Ala703Ser)
c.2089G>T (p.Ala697Ser)
c.1462G>T (p.Ala488Ser)
c.1273G>T (p.Ala425Ser)
c.1603G>T (p.Ala535Ser)
 gnomAD v4
6g.107634895C>ACA365171832SOBPc.2051C>A (p.Ala684Asp)
c.2204C>A (p.Ala735Asp)
c.2108C>A (p.Ala703Asp)
c.2090C>A (p.Ala697Asp)
c.1463C>A (p.Ala488Asp)
c.1274C>A (p.Ala425Asp)
c.1604C>A (p.Ala535Asp)
 dbSNP gnomAD v2 gnomAD v4
6g.107634895C=CA1653939430SOBPc.2051C= (p.Ala684=)
c.2204C= (p.Ala735=)
c.2108C= (p.Ala703=)
c.2090C= (p.Ala697=)
c.1463C= (p.Ala488=)
c.1274C= (p.Ala425=)
c.1604C= (p.Ala535=)
6g.107634895C>GCA365171834SOBPc.2051C>G (p.Ala684Gly)
c.2204C>G (p.Ala735Gly)
c.2108C>G (p.Ala703Gly)
c.2090C>G (p.Ala697Gly)
c.1463C>G (p.Ala488Gly)
c.1274C>G (p.Ala425Gly)
c.1604C>G (p.Ala535Gly)
6g.107634895C>TCA365171833SOBPc.2051C>T (p.Ala684Val)
c.2204C>T (p.Ala735Val)
c.2108C>T (p.Ala703Val)
c.2090C>T (p.Ala697Val)
c.1463C>T (p.Ala488Val)
c.1274C>T (p.Ala425Val)
c.1604C>T (p.Ala535Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.107634896C>ACA451582053SOBPc.2052C>A (p.Ala684=)
c.2205C>A (p.Ala735=)
c.2109C>A (p.Ala703=)
c.2091C>A (p.Ala697=)
c.1464C>A (p.Ala488=)
c.1275C>A (p.Ala425=)
c.1605C>A (p.Ala535=)
 dbSNP gnomAD v4
6g.107634896C=CA1653939431SOBPc.2052C= (p.Ala684=)
c.2205C= (p.Ala735=)
c.2109C= (p.Ala703=)
c.2091C= (p.Ala697=)
c.1464C= (p.Ala488=)
c.1275C= (p.Ala425=)
c.1605C= (p.Ala535=)
6g.107634896C>GCA451582054SOBPc.2052C>G (p.Ala684=)
c.2205C>G (p.Ala735=)
c.2109C>G (p.Ala703=)
c.2091C>G (p.Ala697=)
c.1464C>G (p.Ala488=)
c.1275C>G (p.Ala425=)
c.1605C>G (p.Ala535=)
 gnomAD v4
6g.107634896C>TCA451582055SOBPc.2052C>T (p.Ala684=)
c.2205C>T (p.Ala735=)
c.2109C>T (p.Ala703=)
c.2091C>T (p.Ala697=)
c.1464C>T (p.Ala488=)
c.1275C>T (p.Ala425=)
c.1605C>T (p.Ala535=)
 dbSNP gnomAD v2 gnomAD v4
6g.107634898_107634899delCA2679876775SOBPc.2054_2055del (p.Ala685GlyfsTer?)
c.2207_2208del (p.Ala736GlyfsTer?)
c.2111_2112del (p.Ala704GlyfsTer?)
c.2093_2094del (p.Ala698GlyfsTer?)
c.1466_1467del (p.Ala489GlyfsTer?)
c.1277_1278del (p.Ala426GlyfsTer?)
c.1607_1608del (p.Ala536GlyfsTer?)
 gnomAD v4
6g.107634897G>ACA365171835SOBPc.2053G>A (p.Ala685Thr)
c.2206G>A (p.Ala736Thr)
c.2110G>A (p.Ala704Thr)
c.2092G>A (p.Ala698Thr)
c.1465G>A (p.Ala489Thr)
c.1276G>A (p.Ala426Thr)
c.1606G>A (p.Ala536Thr)
 dbSNP gnomAD v2 gnomAD v4
6g.107634897G>CCA365171836SOBPc.2053G>C (p.Ala685Pro)
c.2206G>C (p.Ala736Pro)
c.2110G>C (p.Ala704Pro)
c.2092G>C (p.Ala698Pro)
c.1465G>C (p.Ala489Pro)
c.1276G>C (p.Ala426Pro)
c.1606G>C (p.Ala536Pro)
 dbSNP
6g.107634897G=CA1653939433SOBPc.2053G= (p.Ala685=)
c.2206G= (p.Ala736=)
c.2110G= (p.Ala704=)
c.2092G= (p.Ala698=)
c.1465G= (p.Ala489=)
c.1276G= (p.Ala426=)
c.1606G= (p.Ala536=)
6g.107634897G>TCA365171837SOBPc.2053G>T (p.Ala685Ser)
c.2206G>T (p.Ala736Ser)
c.2110G>T (p.Ala704Ser)
c.2092G>T (p.Ala698Ser)
c.1465G>T (p.Ala489Ser)
c.1276G>T (p.Ala426Ser)
c.1606G>T (p.Ala536Ser)
 gnomAD v4
6g.107634898C>ACA365171838SOBPc.2054C>A (p.Ala685Glu)
c.2207C>A (p.Ala736Glu)
c.2111C>A (p.Ala704Glu)
c.2093C>A (p.Ala698Glu)
c.1466C>A (p.Ala489Glu)
c.1277C>A (p.Ala426Glu)
c.1607C>A (p.Ala536Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634898C=CA1653939438SOBPc.2054C= (p.Ala685=)
c.2207C= (p.Ala736=)
c.2111C= (p.Ala704=)
c.2093C= (p.Ala698=)
c.1466C= (p.Ala489=)
c.1277C= (p.Ala426=)
c.1607C= (p.Ala536=)
6g.107634898C>GCA365171839SOBPc.2054C>G (p.Ala685Gly)
c.2207C>G (p.Ala736Gly)
c.2111C>G (p.Ala704Gly)
c.2093C>G (p.Ala698Gly)
c.1466C>G (p.Ala489Gly)
c.1277C>G (p.Ala426Gly)
c.1607C>G (p.Ala536Gly)
 gnomAD v4
6g.107634898C>TCA3946613SOBPc.2054C>T (p.Ala685Val)
c.2207C>T (p.Ala736Val)
c.2111C>T (p.Ala704Val)
c.2093C>T (p.Ala698Val)
c.1466C>T (p.Ala489Val)
c.1277C>T (p.Ala426Val)
c.1607C>T (p.Ala536Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.107634899G>ACA451582058SOBPc.2055G>A (p.Ala685=)
c.2208G>A (p.Ala736=)
c.2112G>A (p.Ala704=)
c.2094G>A (p.Ala698=)
c.1467G>A (p.Ala489=)
c.1278G>A (p.Ala426=)
c.1608G>A (p.Ala536=)
 dbSNP gnomAD v2 gnomAD v4
6g.107634899G>CCA451582057SOBPc.2055G>C (p.Ala685=)
c.2208G>C (p.Ala736=)
c.2112G>C (p.Ala704=)
c.2094G>C (p.Ala698=)
c.1467G>C (p.Ala489=)
c.1278G>C (p.Ala426=)
c.1608G>C (p.Ala536=)
 gnomAD v4
6g.107634899G=CA1653939444SOBPc.2055G= (p.Ala685=)
c.2208G= (p.Ala736=)
c.2112G= (p.Ala704=)
c.2094G= (p.Ala698=)
c.1467G= (p.Ala489=)
c.1278G= (p.Ala426=)
c.1608G= (p.Ala536=)
6g.107634899G>TCA451582056SOBPc.2055G>T (p.Ala685=)
c.2208G>T (p.Ala736=)
c.2112G>T (p.Ala704=)
c.2094G>T (p.Ala698=)
c.1467G>T (p.Ala489=)
c.1278G>T (p.Ala426=)
c.1608G>T (p.Ala536=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634900G>ACA365171840SOBPc.2056G>A (p.Glu686Lys)
c.2209G>A (p.Glu737Lys)
c.2113G>A (p.Glu705Lys)
c.2095G>A (p.Glu699Lys)
c.1468G>A (p.Glu490Lys)
c.1279G>A (p.Glu427Lys)
c.1609G>A (p.Glu537Lys)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
6g.107634900G>CCA365171841SOBPc.2056G>C (p.Glu686Gln)
c.2209G>C (p.Glu737Gln)
c.2113G>C (p.Glu705Gln)
c.2095G>C (p.Glu699Gln)
c.1468G>C (p.Glu490Gln)
c.1279G>C (p.Glu427Gln)
c.1609G>C (p.Glu537Gln)
 dbSNP gnomAD v2 gnomAD v4
6g.107634900G=CA1653939446SOBPc.2056G= (p.Glu686=)
c.2209G= (p.Glu737=)
c.2113G= (p.Glu705=)
c.2095G= (p.Glu699=)
c.1468G= (p.Glu490=)
c.1279G= (p.Glu427=)
c.1609G= (p.Glu537=)
6g.107634900G>TCA365171842SOBPc.2056G>T (p.Glu686Ter)
c.2209G>T (p.Glu737Ter)
c.2113G>T (p.Glu705Ter)
c.2095G>T (p.Glu699Ter)
c.1468G>T (p.Glu490Ter)
c.1279G>T (p.Glu427Ter)
c.1609G>T (p.Glu537Ter)
 gnomAD v4
6g.107634901A=CA1653939448SOBPc.2057A= (p.Glu686=)
c.2210A= (p.Glu737=)
c.2114A= (p.Glu705=)
c.2096A= (p.Glu699=)
c.1469A= (p.Glu490=)
c.1280A= (p.Glu427=)
c.1610A= (p.Glu537=)
6g.107634901A>CCA365171843SOBPc.2057A>C (p.Glu686Ala)
c.2210A>C (p.Glu737Ala)
c.2114A>C (p.Glu705Ala)
c.2096A>C (p.Glu699Ala)
c.1469A>C (p.Glu490Ala)
c.1280A>C (p.Glu427Ala)
c.1610A>C (p.Glu537Ala)
 dbSNP gnomAD v4
6g.107634901A>GCA145013960SOBPc.2057A>G (p.Glu686Gly)
c.2210A>G (p.Glu737Gly)
c.2114A>G (p.Glu705Gly)
c.2096A>G (p.Glu699Gly)
c.1469A>G (p.Glu490Gly)
c.1280A>G (p.Glu427Gly)
c.1610A>G (p.Glu537Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634901A>TCA365171844SOBPc.2057A>T (p.Glu686Val)
c.2210A>T (p.Glu737Val)
c.2114A>T (p.Glu705Val)
c.2096A>T (p.Glu699Val)
c.1469A>T (p.Glu490Val)
c.1280A>T (p.Glu427Val)
c.1610A>T (p.Glu537Val)
 gnomAD v4
6g.107634902G>ACA451582059SOBPc.2058G>A (p.Glu686=)
c.2211G>A (p.Glu737=)
c.2115G>A (p.Glu705=)
c.2097G>A (p.Glu699=)
c.1470G>A (p.Glu490=)
c.1281G>A (p.Glu427=)
c.1611G>A (p.Glu537=)
 gnomAD v4
6g.107634902G>CCA365171845SOBPc.2058G>C (p.Glu686Asp)
c.2211G>C (p.Glu737Asp)
c.2115G>C (p.Glu705Asp)
c.2097G>C (p.Glu699Asp)
c.1470G>C (p.Glu490Asp)
c.1281G>C (p.Glu427Asp)
c.1611G>C (p.Glu537Asp)
6g.107634902G>TCA365171846SOBPc.2058G>T (p.Glu686Asp)
c.2211G>T (p.Glu737Asp)
c.2115G>T (p.Glu705Asp)
c.2097G>T (p.Glu699Asp)
c.1470G>T (p.Glu490Asp)
c.1281G>T (p.Glu427Asp)
c.1611G>T (p.Glu537Asp)
 gnomAD v4
6g.107634903C>ACA365171847SOBPc.2059C>A (p.Arg687Ser)
c.2212C>A (p.Arg738Ser)
c.2116C>A (p.Arg706Ser)
c.2098C>A (p.Arg700Ser)
c.1471C>A (p.Arg491Ser)
c.1282C>A (p.Arg428Ser)
c.1612C>A (p.Arg538Ser)
 dbSNP gnomAD v4
6g.107634903C=CA1653939452SOBPc.2059C= (p.Arg687=)
c.2212C= (p.Arg738=)
c.2116C= (p.Arg706=)
c.2098C= (p.Arg700=)
c.1471C= (p.Arg491=)
c.1282C= (p.Arg428=)
c.1612C= (p.Arg538=)
6g.107634903C>GCA365171848SOBPc.2059C>G (p.Arg687Gly)
c.2212C>G (p.Arg738Gly)
c.2116C>G (p.Arg706Gly)
c.2098C>G (p.Arg700Gly)
c.1471C>G (p.Arg491Gly)
c.1282C>G (p.Arg428Gly)
c.1612C>G (p.Arg538Gly)
 gnomAD v4
6g.107634903C>TCA365171849SOBPc.2059C>T (p.Arg687Cys)
c.2212C>T (p.Arg738Cys)
c.2116C>T (p.Arg706Cys)
c.2098C>T (p.Arg700Cys)
c.1471C>T (p.Arg491Cys)
c.1282C>T (p.Arg428Cys)
c.1612C>T (p.Arg538Cys)
 dbSNP gnomAD v2 gnomAD v4
6g.107634904G>ACA365171850SOBPc.2060G>A (p.Arg687His)
c.2213G>A (p.Arg738His)
c.2117G>A (p.Arg706His)
c.2099G>A (p.Arg700His)
c.1472G>A (p.Arg491His)
c.1283G>A (p.Arg428His)
c.1613G>A (p.Arg538His)
 dbSNP gnomAD v2 gnomAD v4
6g.107634904G>CCA365171851SOBPc.2060G>C (p.Arg687Pro)
c.2213G>C (p.Arg738Pro)
c.2117G>C (p.Arg706Pro)
c.2099G>C (p.Arg700Pro)
c.1472G>C (p.Arg491Pro)
c.1283G>C (p.Arg428Pro)
c.1613G>C (p.Arg538Pro)
 gnomAD v4
6g.107634904G=CA1653939455SOBPc.2060G= (p.Arg687=)
c.2213G= (p.Arg738=)
c.2117G= (p.Arg706=)
c.2099G= (p.Arg700=)
c.1472G= (p.Arg491=)
c.1283G= (p.Arg428=)
c.1613G= (p.Arg538=)
6g.107634904G>TCA365171852SOBPc.2060G>T (p.Arg687Leu)
c.2213G>T (p.Arg738Leu)
c.2117G>T (p.Arg706Leu)
c.2099G>T (p.Arg700Leu)
c.1472G>T (p.Arg491Leu)
c.1283G>T (p.Arg428Leu)
c.1613G>T (p.Arg538Leu)
 dbSNP gnomAD v2 gnomAD v4
6g.107634905C>ACA451582060SOBPc.2061C>A (p.Arg687=)
c.2214C>A (p.Arg738=)
c.2118C>A (p.Arg706=)
c.2100C>A (p.Arg700=)
c.1473C>A (p.Arg491=)
c.1284C>A (p.Arg428=)
c.1614C>A (p.Arg538=)
 gnomAD v4
6g.107634905C>GCA451582062SOBPc.2061C>G (p.Arg687=)
c.2214C>G (p.Arg738=)
c.2118C>G (p.Arg706=)
c.2100C>G (p.Arg700=)
c.1473C>G (p.Arg491=)
c.1284C>G (p.Arg428=)
c.1614C>G (p.Arg538=)
 gnomAD v4
6g.107634905C>TCA451582061SOBPc.2061C>T (p.Arg687=)
c.2214C>T (p.Arg738=)
c.2118C>T (p.Arg706=)
c.2100C>T (p.Arg700=)
c.1473C>T (p.Arg491=)
c.1284C>T (p.Arg428=)
c.1614C>T (p.Arg538=)
 gnomAD v4
6g.107634906A=CA1653939458SOBPc.2062A= (p.Arg688=)
c.2215A= (p.Arg739=)
c.2119A= (p.Arg707=)
c.2101A= (p.Arg701=)
c.1474A= (p.Arg492=)
c.1285A= (p.Arg429=)
c.1615A= (p.Arg539=)
6g.107634906A>CCA451582063SOBPc.2062A>C (p.Arg688=)
c.2215A>C (p.Arg739=)
c.2119A>C (p.Arg707=)
c.2101A>C (p.Arg701=)
c.1474A>C (p.Arg492=)
c.1285A>C (p.Arg429=)
c.1615A>C (p.Arg539=)
 dbSNP gnomAD v3 gnomAD v4
6g.107634906A>GCA365171853SOBPc.2062A>G (p.Arg688Gly)
c.2215A>G (p.Arg739Gly)
c.2119A>G (p.Arg707Gly)
c.2101A>G (p.Arg701Gly)
c.1474A>G (p.Arg492Gly)
c.1285A>G (p.Arg429Gly)
c.1615A>G (p.Arg539Gly)
 gnomAD v4
6g.107634906A>TCA365171854SOBPc.2062A>T (p.Arg688Trp)
c.2215A>T (p.Arg739Trp)
c.2119A>T (p.Arg707Trp)
c.2101A>T (p.Arg701Trp)
c.1474A>T (p.Arg492Trp)
c.1285A>T (p.Arg429Trp)
c.1615A>T (p.Arg539Trp)
 gnomAD v4
6g.107634907G>ACA365171855SOBPc.2063G>A (p.Arg688Lys)
c.2216G>A (p.Arg739Lys)
c.2120G>A (p.Arg707Lys)
c.2102G>A (p.Arg701Lys)
c.1475G>A (p.Arg492Lys)
c.1286G>A (p.Arg429Lys)
c.1616G>A (p.Arg539Lys)
 gnomAD v4
6g.107634907G>CCA365171856SOBPc.2063G>C (p.Arg688Thr)
c.2216G>C (p.Arg739Thr)
c.2120G>C (p.Arg707Thr)
c.2102G>C (p.Arg701Thr)
c.1475G>C (p.Arg492Thr)
c.1286G>C (p.Arg429Thr)
c.1616G>C (p.Arg539Thr)
 gnomAD v4
6g.107634907G>TCA365171857SOBPc.2063G>T (p.Arg688Met)
c.2216G>T (p.Arg739Met)
c.2120G>T (p.Arg707Met)
c.2102G>T (p.Arg701Met)
c.1475G>T (p.Arg492Met)
c.1286G>T (p.Arg429Met)
c.1616G>T (p.Arg539Met)
 gnomAD v4
6g.107634908G>ACA451582064SOBPc.2064G>A (p.Arg688=)
c.2217G>A (p.Arg739=)
c.2121G>A (p.Arg707=)
c.2103G>A (p.Arg701=)
c.1476G>A (p.Arg492=)
c.1287G>A (p.Arg429=)
c.1617G>A (p.Arg539=)
 gnomAD v4
6g.107634908G>CCA365171859SOBPc.2064G>C (p.Arg688Ser)
c.2217G>C (p.Arg739Ser)
c.2121G>C (p.Arg707Ser)
c.2103G>C (p.Arg701Ser)
c.1476G>C (p.Arg492Ser)
c.1287G>C (p.Arg429Ser)
c.1617G>C (p.Arg539Ser)
 gnomAD v4
6g.107634908G>TCA365171858SOBPc.2064G>T (p.Arg688Ser)
c.2217G>T (p.Arg739Ser)
c.2121G>T (p.Arg707Ser)
c.2103G>T (p.Arg701Ser)
c.1476G>T (p.Arg492Ser)
c.1287G>T (p.Arg429Ser)
c.1617G>T (p.Arg539Ser)
 gnomAD v4
6g.107634909A>CCA365171860SOBPc.2065A>C (p.Thr689Pro)
c.2218A>C (p.Thr740Pro)
c.2122A>C (p.Thr708Pro)
c.2104A>C (p.Thr702Pro)
c.1477A>C (p.Thr493Pro)
c.1288A>C (p.Thr430Pro)
c.1618A>C (p.Thr540Pro)
 gnomAD v4
6g.107634909A>GCA365171861SOBPc.2065A>G (p.Thr689Ala)
c.2218A>G (p.Thr740Ala)
c.2122A>G (p.Thr708Ala)
c.2104A>G (p.Thr702Ala)
c.1477A>G (p.Thr493Ala)
c.1288A>G (p.Thr430Ala)
c.1618A>G (p.Thr540Ala)
 gnomAD v4
6g.107634909A>TCA365171862SOBPc.2065A>T (p.Thr689Ser)
c.2218A>T (p.Thr740Ser)
c.2122A>T (p.Thr708Ser)
c.2104A>T (p.Thr702Ser)
c.1477A>T (p.Thr493Ser)
c.1288A>T (p.Thr430Ser)
c.1618A>T (p.Thr540Ser)
6g.107634910C>ACA365171863SOBPc.2066C>A (p.Thr689Asn)
c.2219C>A (p.Thr740Asn)
c.2123C>A (p.Thr708Asn)
c.2105C>A (p.Thr702Asn)
c.1478C>A (p.Thr493Asn)
c.1289C>A (p.Thr430Asn)
c.1619C>A (p.Thr540Asn)
 dbSNP gnomAD v3 gnomAD v4
6g.107634910C=CA1653939463SOBPc.2066C= (p.Thr689=)
c.2219C= (p.Thr740=)
c.2123C= (p.Thr708=)
c.2105C= (p.Thr702=)
c.1478C= (p.Thr493=)
c.1289C= (p.Thr430=)
c.1619C= (p.Thr540=)
6g.107634910C>GCA365171864SOBPc.2066C>G (p.Thr689Ser)
c.2219C>G (p.Thr740Ser)
c.2123C>G (p.Thr708Ser)
c.2105C>G (p.Thr702Ser)
c.1478C>G (p.Thr493Ser)
c.1289C>G (p.Thr430Ser)
c.1619C>G (p.Thr540Ser)
6g.107634910C>TCA365171865SOBPc.2066C>T (p.Thr689Ile)
c.2219C>T (p.Thr740Ile)
c.2123C>T (p.Thr708Ile)
c.2105C>T (p.Thr702Ile)
c.1478C>T (p.Thr493Ile)
c.1289C>T (p.Thr430Ile)
c.1619C>T (p.Thr540Ile)
 gnomAD v4
6g.107634911C>ACA451582065SOBPc.2067C>A (p.Thr689=)
c.2220C>A (p.Thr740=)
c.2124C>A (p.Thr708=)
c.2106C>A (p.Thr702=)
c.1479C>A (p.Thr493=)
c.1290C>A (p.Thr430=)
c.1620C>A (p.Thr540=)
 gnomAD v4
6g.107634911C>GCA451582066SOBPc.2067C>G (p.Thr689=)
c.2220C>G (p.Thr740=)
c.2124C>G (p.Thr708=)
c.2106C>G (p.Thr702=)
c.1479C>G (p.Thr493=)
c.1290C>G (p.Thr430=)
c.1620C>G (p.Thr540=)
 gnomAD v4
6g.107634911C>TCA451582067SOBPc.2067C>T (p.Thr689=)
c.2220C>T (p.Thr740=)
c.2124C>T (p.Thr708=)
c.2106C>T (p.Thr702=)
c.1479C>T (p.Thr493=)
c.1290C>T (p.Thr430=)
c.1620C>T (p.Thr540=)
 dbSNP gnomAD v4
6g.107634912T>ACA365171868SOBPc.2068T>A (p.Cys690Ser)
c.2221T>A (p.Cys741Ser)
c.2125T>A (p.Cys709Ser)
c.2107T>A (p.Cys703Ser)
c.1480T>A (p.Cys494Ser)
c.1291T>A (p.Cys431Ser)
c.1621T>A (p.Cys541Ser)
 gnomAD v4
6g.107634912T>CCA365171866SOBPc.2068T>C (p.Cys690Arg)
c.2221T>C (p.Cys741Arg)
c.2125T>C (p.Cys709Arg)
c.2107T>C (p.Cys703Arg)
c.1480T>C (p.Cys494Arg)
c.1291T>C (p.Cys431Arg)
c.1621T>C (p.Cys541Arg)
 gnomAD v4
6g.107634912T>GCA365171867SOBPc.2068T>G (p.Cys690Gly)
c.2221T>G (p.Cys741Gly)
c.2125T>G (p.Cys709Gly)
c.2107T>G (p.Cys703Gly)
c.1480T>G (p.Cys494Gly)
c.1291T>G (p.Cys431Gly)
c.1621T>G (p.Cys541Gly)
 gnomAD v4
6g.107634913G>ACA365171871SOBPc.2069G>A (p.Cys690Tyr)
c.2222G>A (p.Cys741Tyr)
c.2126G>A (p.Cys709Tyr)
c.2108G>A (p.Cys703Tyr)
c.1481G>A (p.Cys494Tyr)
c.1292G>A (p.Cys431Tyr)
c.1622G>A (p.Cys541Tyr)
 gnomAD v4
6g.107634913G>CCA365171872SOBPc.2069G>C (p.Cys690Ser)
c.2222G>C (p.Cys741Ser)
c.2126G>C (p.Cys709Ser)
c.2108G>C (p.Cys703Ser)
c.1481G>C (p.Cys494Ser)
c.1292G>C (p.Cys431Ser)
c.1622G>C (p.Cys541Ser)
6g.107634913G=CA1653939465SOBPc.2069G= (p.Cys690=)
c.2222G= (p.Cys741=)
c.2126G= (p.Cys709=)
c.2108G= (p.Cys703=)
c.1481G= (p.Cys494=)
c.1292G= (p.Cys431=)
c.1622G= (p.Cys541=)
6g.107634913G>TCA365171873SOBPc.2069G>T (p.Cys690Phe)
c.2222G>T (p.Cys741Phe)
c.2126G>T (p.Cys709Phe)
c.2108G>T (p.Cys703Phe)
c.1481G>T (p.Cys494Phe)
c.1292G>T (p.Cys431Phe)
c.1622G>T (p.Cys541Phe)
 gnomAD v4
6g.107634918_107634920dupCA2679876776SOBPc.2074_2076dup (p.Gly692_Cys693insGly)
c.2227_2229dup (p.Gly743_Cys744insGly)
c.2131_2133dup (p.Gly711_Cys712insGly)
c.2113_2115dup (p.Gly705_Cys706insGly)
c.1486_1488dup (p.Gly496_Cys497insGly)
c.1297_1299dup (p.Gly433_Cys434insGly)
c.1627_1629dup (p.Gly543_Cys544insGly)
 gnomAD v4
6g.107634914C>ACA365171874SOBPc.2070C>A (p.Cys690Ter)
c.2223C>A (p.Cys741Ter)
c.2127C>A (p.Cys709Ter)
c.2109C>A (p.Cys703Ter)
c.1482C>A (p.Cys494Ter)
c.1293C>A (p.Cys431Ter)
c.1623C>A (p.Cys541Ter)
 gnomAD v4
6g.107634914C>GCA365171875SOBPc.2070C>G (p.Cys690Trp)
c.2223C>G (p.Cys741Trp)
c.2127C>G (p.Cys709Trp)
c.2109C>G (p.Cys703Trp)
c.1482C>G (p.Cys494Trp)
c.1293C>G (p.Cys431Trp)
c.1623C>G (p.Cys541Trp)
 gnomAD v4
6g.107634914C>TCA451582068SOBPc.2070C>T (p.Cys690=)
c.2223C>T (p.Cys741=)
c.2127C>T (p.Cys709=)
c.2109C>T (p.Cys703=)
c.1482C>T (p.Cys494=)
c.1293C>T (p.Cys431=)
c.1623C>T (p.Cys541=)
 gnomAD v4
6g.107634918_107634932dupCA569564366SOBPc.2074_2088dup (p.Gly696_His697insGlyCysArgAspGly)
c.2227_2241dup (p.Gly747_His748insGlyCysArgAspGly)
c.2131_2145dup (p.Gly715_His716insGlyCysArgAspGly)
c.2113_2127dup (p.Gly709_His710insGlyCysArgAspGly)
c.1486_1500dup (p.Gly500_His501insGlyCysArgAspGly)
c.1297_1311dup (p.Gly437_His438insGlyCysArgAspGly)
c.1627_1641dup (p.Gly547_His548insGlyCysArgAspGly)
 dbSNP gnomAD v2 gnomAD v4
6g.107634915G>ACA365171876SOBPc.2071G>A (p.Gly691Ser)
c.2224G>A (p.Gly742Ser)
c.2128G>A (p.Gly710Ser)
c.2110G>A (p.Gly704Ser)
c.1483G>A (p.Gly495Ser)
c.1294G>A (p.Gly432Ser)
c.1624G>A (p.Gly542Ser)
 gnomAD v4 COSMIC
6g.107634915G>CCA365171878SOBPc.2071G>C (p.Gly691Arg)
c.2224G>C (p.Gly742Arg)
c.2128G>C (p.Gly710Arg)
c.2110G>C (p.Gly704Arg)
c.1483G>C (p.Gly495Arg)
c.1294G>C (p.Gly432Arg)
c.1624G>C (p.Gly542Arg)
6g.107634915G>TCA365171877SOBPc.2071G>T (p.Gly691Cys)
c.2224G>T (p.Gly742Cys)
c.2128G>T (p.Gly710Cys)
c.2110G>T (p.Gly704Cys)
c.1483G>T (p.Gly495Cys)
c.1294G>T (p.Gly432Cys)
c.1624G>T (p.Gly542Cys)
 gnomAD v4
6g.107634916G>ACA365171879SOBPc.2072G>A (p.Gly691Asp)
c.2225G>A (p.Gly742Asp)
c.2129G>A (p.Gly710Asp)
c.2111G>A (p.Gly704Asp)
c.1484G>A (p.Gly495Asp)
c.1295G>A (p.Gly432Asp)
c.1625G>A (p.Gly542Asp)
 gnomAD v4
6g.107634916G>CCA365171880SOBPc.2072G>C (p.Gly691Ala)
c.2225G>C (p.Gly742Ala)
c.2129G>C (p.Gly710Ala)
c.2111G>C (p.Gly704Ala)
c.1484G>C (p.Gly495Ala)
c.1295G>C (p.Gly432Ala)
c.1625G>C (p.Gly542Ala)
 gnomAD v4
6g.107634916G>TCA365171881SOBPc.2072G>T (p.Gly691Val)
c.2225G>T (p.Gly742Val)
c.2129G>T (p.Gly710Val)
c.2111G>T (p.Gly704Val)
c.1484G>T (p.Gly495Val)
c.1295G>T (p.Gly432Val)
c.1625G>T (p.Gly542Val)
 gnomAD v4
6g.107634917C>ACA451582069SOBPc.2073C>A (p.Gly691=)
c.2226C>A (p.Gly742=)
c.2130C>A (p.Gly710=)
c.2112C>A (p.Gly704=)
c.1485C>A (p.Gly495=)
c.1296C>A (p.Gly432=)
c.1626C>A (p.Gly542=)
 gnomAD v4
6g.107634917C=CA1653939469SOBPc.2073C= (p.Gly691=)
c.2226C= (p.Gly742=)
c.2130C= (p.Gly710=)
c.2112C= (p.Gly704=)
c.1485C= (p.Gly495=)
c.1296C= (p.Gly432=)
c.1626C= (p.Gly542=)
6g.107634917C>GCA451582071SOBPc.2073C>G (p.Gly691=)
c.2226C>G (p.Gly742=)
c.2130C>G (p.Gly710=)
c.2112C>G (p.Gly704=)
c.1485C>G (p.Gly495=)
c.1296C>G (p.Gly432=)
c.1626C>G (p.Gly542=)
 gnomAD v4
6g.107634917C>TCA451582070SOBPc.2073C>T (p.Gly691=)
c.2226C>T (p.Gly742=)
c.2130C>T (p.Gly710=)
c.2112C>T (p.Gly704=)
c.1485C>T (p.Gly495=)
c.1296C>T (p.Gly432=)
c.1626C>T (p.Gly542=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.107634918G>ACA365171882SOBPc.2074G>A (p.Gly692Ser)
c.2227G>A (p.Gly743Ser)
c.2131G>A (p.Gly711Ser)
c.2113G>A (p.Gly705Ser)
c.1486G>A (p.Gly496Ser)
c.1297G>A (p.Gly433Ser)
c.1627G>A (p.Gly543Ser)
 gnomAD v4
6g.107634918G>CCA365171883SOBPc.2074G>C (p.Gly692Arg)
c.2227G>C (p.Gly743Arg)
c.2131G>C (p.Gly711Arg)
c.2113G>C (p.Gly705Arg)
c.1486G>C (p.Gly496Arg)
c.1297G>C (p.Gly433Arg)
c.1627G>C (p.Gly543Arg)
6g.107634918G>TCA365171884SOBPc.2074G>T (p.Gly692Cys)
c.2227G>T (p.Gly743Cys)
c.2131G>T (p.Gly711Cys)
c.2113G>T (p.Gly705Cys)
c.1486G>T (p.Gly496Cys)
c.1297G>T (p.Gly433Cys)
c.1627G>T (p.Gly543Cys)
 gnomAD v4
6g.107634919G>ACA365171885SOBPc.2075G>A (p.Gly692Asp)
c.2228G>A (p.Gly743Asp)
c.2132G>A (p.Gly711Asp)
c.2114G>A (p.Gly705Asp)
c.1487G>A (p.Gly496Asp)
c.1298G>A (p.Gly433Asp)
c.1628G>A (p.Gly543Asp)
 gnomAD v4
6g.107634919G>CCA365171886SOBPc.2075G>C (p.Gly692Ala)
c.2228G>C (p.Gly743Ala)
c.2132G>C (p.Gly711Ala)
c.2114G>C (p.Gly705Ala)
c.1487G>C (p.Gly496Ala)
c.1298G>C (p.Gly433Ala)
c.1628G>C (p.Gly543Ala)
 gnomAD v4
6g.107634919G>TCA365171887SOBPc.2075G>T (p.Gly692Val)
c.2228G>T (p.Gly743Val)
c.2132G>T (p.Gly711Val)
c.2114G>T (p.Gly705Val)
c.1487G>T (p.Gly496Val)
c.1298G>T (p.Gly433Val)
c.1628G>T (p.Gly543Val)
 gnomAD v4
6g.107634920C>ACA451582072SOBPc.2076C>A (p.Gly692=)
c.2229C>A (p.Gly743=)
c.2133C>A (p.Gly711=)
c.2115C>A (p.Gly705=)
c.1488C>A (p.Gly496=)
c.1299C>A (p.Gly433=)
c.1629C>A (p.Gly543=)
 gnomAD v4
6g.107634920C=CA1653939472SOBPc.2076C= (p.Gly692=)
c.2229C= (p.Gly743=)
c.2133C= (p.Gly711=)
c.2115C= (p.Gly705=)
c.1488C= (p.Gly496=)
c.1299C= (p.Gly433=)
c.1629C= (p.Gly543=)
6g.107634920C>GCA145013976SOBPc.2076C>G (p.Gly692=)
c.2229C>G (p.Gly743=)
c.2133C>G (p.Gly711=)
c.2115C>G (p.Gly705=)
c.1488C>G (p.Gly496=)
c.1299C>G (p.Gly433=)
c.1629C>G (p.Gly543=)
 dbSNP gnomAD v2 gnomAD v4
6g.107634920C>TCA451582073SOBPc.2076C>T (p.Gly692=)
c.2229C>T (p.Gly743=)
c.2133C>T (p.Gly711=)
c.2115C>T (p.Gly705=)
c.1488C>T (p.Gly496=)
c.1299C>T (p.Gly433=)
c.1629C>T (p.Gly543=)
 gnomAD v4
6g.107634926_107634940delCA2578705634SOBPc.2082_2096del (p.Arg694_Cys698del)
c.2235_2249del (p.Arg745_Cys749del)
c.2139_2153del (p.Arg713_Cys717del)
c.2121_2135del (p.Arg707_Cys711del)
c.1494_1508del (p.Arg498_Cys502del)
c.1305_1319del (p.Arg435_Cys439del)
c.1635_1649del (p.Arg545_Cys549del)
 gnomAD v4
6g.107634921T>ACA365171888SOBPc.2077T>A (p.Cys693Ser)
c.2230T>A (p.Cys744Ser)
c.2134T>A (p.Cys712Ser)
c.2116T>A (p.Cys706Ser)
c.1489T>A (p.Cys497Ser)
c.1300T>A (p.Cys434Ser)
c.1630T>A (p.Cys544Ser)
 gnomAD v4
6g.107634921T>CCA365171889SOBPc.2077T>C (p.Cys693Arg)
c.2230T>C (p.Cys744Arg)
c.2134T>C (p.Cys712Arg)
c.2116T>C (p.Cys706Arg)
c.1489T>C (p.Cys497Arg)
c.1300T>C (p.Cys434Arg)
c.1630T>C (p.Cys544Arg)
 gnomAD v4
6g.107634921T>GCA145013981SOBPc.2077T>G (p.Cys693Gly)
c.2230T>G (p.Cys744Gly)
c.2134T>G (p.Cys712Gly)
c.2116T>G (p.Cys706Gly)
c.1489T>G (p.Cys497Gly)
c.1300T>G (p.Cys434Gly)
c.1630T>G (p.Cys544Gly)
 dbSNP gnomAD v2 gnomAD v4
6g.107634921T=CA1653939475SOBPc.2077T= (p.Cys693=)
c.2230T= (p.Cys744=)
c.2134T= (p.Cys712=)
c.2116T= (p.Cys706=)
c.1489T= (p.Cys497=)
c.1300T= (p.Cys434=)
c.1630T= (p.Cys544=)
6g.107634922G>ACA365171892SOBPc.2078G>A (p.Cys693Tyr)
c.2231G>A (p.Cys744Tyr)
c.2135G>A (p.Cys712Tyr)
c.2117G>A (p.Cys706Tyr)
c.1490G>A (p.Cys497Tyr)
c.1301G>A (p.Cys434Tyr)
c.1631G>A (p.Cys544Tyr)
 gnomAD v3 gnomAD v4
6g.107634922G>CCA365171891SOBPc.2078G>C (p.Cys693Ser)
c.2231G>C (p.Cys744Ser)
c.2135G>C (p.Cys712Ser)
c.2117G>C (p.Cys706Ser)
c.1490G>C (p.Cys497Ser)
c.1301G>C (p.Cys434Ser)
c.1631G>C (p.Cys544Ser)
 gnomAD v4
6g.107634922G>TCA365171890SOBPc.2078G>T (p.Cys693Phe)
c.2231G>T (p.Cys744Phe)
c.2135G>T (p.Cys712Phe)
c.2117G>T (p.Cys706Phe)
c.1490G>T (p.Cys497Phe)
c.1301G>T (p.Cys434Phe)
c.1631G>T (p.Cys544Phe)
 gnomAD v4
6g.107634923C>ACA365171894SOBPc.2079C>A (p.Cys693Ter)
c.2232C>A (p.Cys744Ter)
c.2136C>A (p.Cys712Ter)
c.2118C>A (p.Cys706Ter)
c.1491C>A (p.Cys497Ter)
c.1302C>A (p.Cys434Ter)
c.1632C>A (p.Cys544Ter)
 gnomAD v4
6g.107634923C>GCA365171893SOBPc.2079C>G (p.Cys693Trp)
c.2232C>G (p.Cys744Trp)
c.2136C>G (p.Cys712Trp)
c.2118C>G (p.Cys706Trp)
c.1491C>G (p.Cys497Trp)
c.1302C>G (p.Cys434Trp)
c.1632C>G (p.Cys544Trp)
 gnomAD v4
6g.107634923C>TCA451582074SOBPc.2079C>T (p.Cys693=)
c.2232C>T (p.Cys744=)
c.2136C>T (p.Cys712=)
c.2118C>T (p.Cys706=)
c.1491C>T (p.Cys497=)
c.1302C>T (p.Cys434=)
c.1632C>T (p.Cys544=)
 gnomAD v4
6g.107634924A>CCA451582075SOBPc.2080A>C (p.Arg694=)
c.2233A>C (p.Arg745=)
c.2137A>C (p.Arg713=)
c.2119A>C (p.Arg707=)
c.1492A>C (p.Arg498=)
c.1303A>C (p.Arg435=)
c.1633A>C (p.Arg545=)
6g.107634924A>GCA365171895SOBPc.2080A>G (p.Arg694Gly)
c.2233A>G (p.Arg745Gly)
c.2137A>G (p.Arg713Gly)
c.2119A>G (p.Arg707Gly)
c.1492A>G (p.Arg498Gly)
c.1303A>G (p.Arg435Gly)
c.1633A>G (p.Arg545Gly)
 gnomAD v4
6g.107634924A>TCA365171896SOBPc.2080A>T (p.Arg694Trp)
c.2233A>T (p.Arg745Trp)
c.2137A>T (p.Arg713Trp)
c.2119A>T (p.Arg707Trp)
c.1492A>T (p.Arg498Trp)
c.1303A>T (p.Arg435Trp)
c.1633A>T (p.Arg545Trp)
 gnomAD v4
6g.107634925G>ACA365171897SOBPc.2081G>A (p.Arg694Lys)
c.2234G>A (p.Arg745Lys)
c.2138G>A (p.Arg713Lys)
c.2120G>A (p.Arg707Lys)
c.1493G>A (p.Arg498Lys)
c.1304G>A (p.Arg435Lys)
c.1634G>A (p.Arg545Lys)
6g.107634925G>CCA365171898SOBPc.2081G>C (p.Arg694Thr)
c.2234G>C (p.Arg745Thr)
c.2138G>C (p.Arg713Thr)
c.2120G>C (p.Arg707Thr)
c.1493G>C (p.Arg498Thr)
c.1304G>C (p.Arg435Thr)
c.1634G>C (p.Arg545Thr)
 dbSNP gnomAD v3 gnomAD v4
6g.107634925G=CA1653939480SOBPc.2081G= (p.Arg694=)
c.2234G= (p.Arg745=)
c.2138G= (p.Arg713=)
c.2120G= (p.Arg707=)
c.1493G= (p.Arg498=)
c.1304G= (p.Arg435=)
c.1634G= (p.Arg545=)
6g.107634925G>TCA365171899SOBPc.2081G>T (p.Arg694Met)
c.2234G>T (p.Arg745Met)
c.2138G>T (p.Arg713Met)
c.2120G>T (p.Arg707Met)
c.1493G>T (p.Arg498Met)
c.1304G>T (p.Arg435Met)
c.1634G>T (p.Arg545Met)
 gnomAD v4
6g.107634927delCA2679876777SOBPc.2083del (p.Asp695ThrfsTer30)
c.2236del (p.Asp746ThrfsTer30)
c.2140del (p.Asp714ThrfsTer30)
c.2122del (p.Asp708ThrfsTer30)
c.1495del (p.Asp499ThrfsTer30)
c.1306del (p.Asp436ThrfsTer30)
c.1636del (p.Asp546ThrfsTer30)
 gnomAD v4
6g.107634925_107634926insTCA2679876778SOBPc.2081_2082insT (p.Arg694SerfsTer?)
c.2234_2235insT (p.Arg745SerfsTer?)
c.2138_2139insT (p.Arg713SerfsTer?)
c.2120_2121insT (p.Arg707SerfsTer?)
c.1493_1494insT (p.Arg498SerfsTer?)
c.1304_1305insT (p.Arg435SerfsTer?)
c.1634_1635insT (p.Arg545SerfsTer?)
 gnomAD v4
6g.107634926G>ACA451582076SOBPc.2082G>A (p.Arg694=)
c.2235G>A (p.Arg745=)
c.2139G>A (p.Arg713=)
c.2121G>A (p.Arg707=)
c.1494G>A (p.Arg498=)
c.1305G>A (p.Arg435=)
c.1635G>A (p.Arg545=)
 gnomAD v4
6g.107634926G>CCA365171900SOBPc.2082G>C (p.Arg694Ser)
c.2235G>C (p.Arg745Ser)
c.2139G>C (p.Arg713Ser)
c.2121G>C (p.Arg707Ser)
c.1494G>C (p.Arg498Ser)
c.1305G>C (p.Arg435Ser)
c.1635G>C (p.Arg545Ser)
6g.107634926G>TCA365171901SOBPc.2082G>T (p.Arg694Ser)
c.2235G>T (p.Arg745Ser)
c.2139G>T (p.Arg713Ser)
c.2121G>T (p.Arg707Ser)
c.1494G>T (p.Arg498Ser)
c.1305G>T (p.Arg435Ser)
c.1635G>T (p.Arg545Ser)
 gnomAD v4
6g.107634927G>ACA365171902SOBPc.2083G>A (p.Asp695Asn)
c.2236G>A (p.Asp746Asn)
c.2140G>A (p.Asp714Asn)
c.2122G>A (p.Asp708Asn)
c.1495G>A (p.Asp499Asn)
c.1306G>A (p.Asp436Asn)
c.1636G>A (p.Asp546Asn)
 gnomAD v4
6g.107634927G>CCA365171903SOBPc.2083G>C (p.Asp695His)
c.2236G>C (p.Asp746His)
c.2140G>C (p.Asp714His)
c.2122G>C (p.Asp708His)
c.1495G>C (p.Asp499His)
c.1306G>C (p.Asp436His)
c.1636G>C (p.Asp546His)
 dbSNP gnomAD v4
6g.107634927G=CA1653939483SOBPc.2083G= (p.Asp695=)
c.2236G= (p.Asp746=)
c.2140G= (p.Asp714=)
c.2122G= (p.Asp708=)
c.1495G= (p.Asp499=)
c.1306G= (p.Asp436=)
c.1636G= (p.Asp546=)
6g.107634927G>TCA365171904SOBPc.2083G>T (p.Asp695Tyr)
c.2236G>T (p.Asp746Tyr)
c.2140G>T (p.Asp714Tyr)
c.2122G>T (p.Asp708Tyr)
c.1495G>T (p.Asp499Tyr)
c.1306G>T (p.Asp436Tyr)
c.1636G>T (p.Asp546Tyr)
 gnomAD v4
6g.107634928A=CA1653939486SOBPc.2084A= (p.Asp695=)
c.2237A= (p.Asp746=)
c.2141A= (p.Asp714=)
c.2123A= (p.Asp708=)
c.1496A= (p.Asp499=)
c.1307A= (p.Asp436=)
c.1637A= (p.Asp546=)
6g.107634928A>CCA365171905SOBPc.2084A>C (p.Asp695Ala)
c.2237A>C (p.Asp746Ala)
c.2141A>C (p.Asp714Ala)
c.2123A>C (p.Asp708Ala)
c.1496A>C (p.Asp499Ala)
c.1307A>C (p.Asp436Ala)
c.1637A>C (p.Asp546Ala)
 gnomAD v4
6g.107634928A>GCA365171906SOBPc.2084A>G (p.Asp695Gly)
c.2237A>G (p.Asp746Gly)
c.2141A>G (p.Asp714Gly)
c.2123A>G (p.Asp708Gly)
c.1496A>G (p.Asp499Gly)
c.1307A>G (p.Asp436Gly)
c.1637A>G (p.Asp546Gly)
 dbSNP gnomAD v4
6g.107634928A>TCA365171907SOBPc.2084A>T (p.Asp695Val)
c.2237A>T (p.Asp746Val)
c.2141A>T (p.Asp714Val)
c.2123A>T (p.Asp708Val)
c.1496A>T (p.Asp499Val)
c.1307A>T (p.Asp436Val)
c.1637A>T (p.Asp546Val)
6g.107634929C>ACA365171909SOBPc.2085C>A (p.Asp695Glu)
c.2238C>A (p.Asp746Glu)
c.2142C>A (p.Asp714Glu)
c.2124C>A (p.Asp708Glu)
c.1497C>A (p.Asp499Glu)
c.1308C>A (p.Asp436Glu)
c.1638C>A (p.Asp546Glu)
 gnomAD v4
6g.107634929C>GCA365171908SOBPc.2085C>G (p.Asp695Glu)
c.2238C>G (p.Asp746Glu)
c.2142C>G (p.Asp714Glu)
c.2124C>G (p.Asp708Glu)
c.1497C>G (p.Asp499Glu)
c.1308C>G (p.Asp436Glu)
c.1638C>G (p.Asp546Glu)
6g.107634929C>TCA451582081SOBPc.2085C>T (p.Asp695=)
c.2238C>T (p.Asp746=)
c.2142C>T (p.Asp714=)
c.2124C>T (p.Asp708=)
c.1497C>T (p.Asp499=)
c.1308C>T (p.Asp436=)
c.1638C>T (p.Asp546=)
 gnomAD v4
6g.107634930G>ACA365171910SOBPc.2086G>A (p.Gly696Ser)
c.2239G>A (p.Gly747Ser)
c.2143G>A (p.Gly715Ser)
c.2125G>A (p.Gly709Ser)
c.1498G>A (p.Gly500Ser)
c.1309G>A (p.Gly437Ser)
c.1639G>A (p.Gly547Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
6g.107634930G>CCA365171911SOBPc.2086G>C (p.Gly696Arg)
c.2239G>C (p.Gly747Arg)
c.2143G>C (p.Gly715Arg)
c.2125G>C (p.Gly709Arg)
c.1498G>C (p.Gly500Arg)
c.1309G>C (p.Gly437Arg)
c.1639G>C (p.Gly547Arg)
 dbSNP gnomAD v4
6g.107634930G=CA1653939492SOBPc.2086G= (p.Gly696=)
c.2239G= (p.Gly747=)
c.2143G= (p.Gly715=)
c.2125G= (p.Gly709=)
c.1498G= (p.Gly500=)
c.1309G= (p.Gly437=)
c.1639G= (p.Gly547=)
6g.107634930G>TCA365171912SOBPc.2086G>T (p.Gly696Cys)
c.2239G>T (p.Gly747Cys)
c.2143G>T (p.Gly715Cys)
c.2125G>T (p.Gly709Cys)
c.1498G>T (p.Gly500Cys)
c.1309G>T (p.Gly437Cys)
c.1639G>T (p.Gly547Cys)
 gnomAD v4
6g.107634931G>ACA365171913SOBPc.2087G>A (p.Gly696Asp)
c.2240G>A (p.Gly747Asp)
c.2144G>A (p.Gly715Asp)
c.2126G>A (p.Gly709Asp)
c.1499G>A (p.Gly500Asp)
c.1310G>A (p.Gly437Asp)
c.1640G>A (p.Gly547Asp)
 gnomAD v4
6g.107634931G>CCA365171914SOBPc.2087G>C (p.Gly696Ala)
c.2240G>C (p.Gly747Ala)
c.2144G>C (p.Gly715Ala)
c.2126G>C (p.Gly709Ala)
c.1499G>C (p.Gly500Ala)
c.1310G>C (p.Gly437Ala)
c.1640G>C (p.Gly547Ala)
 dbSNP
6g.107634931G=CA1653939495SOBPc.2087G= (p.Gly696=)
c.2240G= (p.Gly747=)
c.2144G= (p.Gly715=)
c.2126G= (p.Gly709=)
c.1499G= (p.Gly500=)
c.1310G= (p.Gly437=)
c.1640G= (p.Gly547=)
6g.107634931G>TCA365171915SOBPc.2087G>T (p.Gly696Val)
c.2240G>T (p.Gly747Val)
c.2144G>T (p.Gly715Val)
c.2126G>T (p.Gly709Val)
c.1499G>T (p.Gly500Val)
c.1310G>T (p.Gly437Val)
c.1640G>T (p.Gly547Val)
 gnomAD v4
6g.107634932C>ACA451582084SOBPc.2088C>A (p.Gly696=)
c.2241C>A (p.Gly747=)
c.2145C>A (p.Gly715=)
c.2127C>A (p.Gly709=)
c.1500C>A (p.Gly500=)
c.1311C>A (p.Gly437=)
c.1641C>A (p.Gly547=)
 gnomAD v4
6g.107634932C=CA1653939498SOBPc.2088C= (p.Gly696=)
c.2241C= (p.Gly747=)
c.2145C= (p.Gly715=)
c.2127C= (p.Gly709=)
c.1500C= (p.Gly500=)
c.1311C= (p.Gly437=)
c.1641C= (p.Gly547=)
6g.107634932C>GCA451582085SOBPc.2088C>G (p.Gly696=)
c.2241C>G (p.Gly747=)
c.2145C>G (p.Gly715=)
c.2127C>G (p.Gly709=)
c.1500C>G (p.Gly500=)
c.1311C>G (p.Gly437=)
c.1641C>G (p.Gly547=)
 gnomAD v4
6g.107634932C>TCA451582086SOBPc.2088C>T (p.Gly696=)
c.2241C>T (p.Gly747=)
c.2145C>T (p.Gly715=)
c.2127C>T (p.Gly709=)
c.1500C>T (p.Gly500=)
c.1311C>T (p.Gly437=)
c.1641C>T (p.Gly547=)
 dbSNP gnomAD v2 gnomAD v4
6g.107634933C>ACA365171918SOBPc.2089C>A (p.His697Asn)
c.2242C>A (p.His748Asn)
c.2146C>A (p.His716Asn)
c.2128C>A (p.His710Asn)
c.1501C>A (p.His501Asn)
c.1312C>A (p.His438Asn)
c.1642C>A (p.His548Asn)
 gnomAD v4
6g.107634933C>GCA365171916SOBPc.2089C>G (p.His697Asp)
c.2242C>G (p.His748Asp)
c.2146C>G (p.His716Asp)
c.2128C>G (p.His710Asp)
c.1501C>G (p.His501Asp)
c.1312C>G (p.His438Asp)
c.1642C>G (p.His548Asp)
6g.107634933C>TCA365171917SOBPc.2089C>T (p.His697Tyr)
c.2242C>T (p.His748Tyr)
c.2146C>T (p.His716Tyr)
c.2128C>T (p.His710Tyr)
c.1501C>T (p.His501Tyr)
c.1312C>T (p.His438Tyr)
c.1642C>T (p.His548Tyr)
 gnomAD v4
6g.107634934A=CA1653939502SOBPc.2090A= (p.His697=)
c.2243A= (p.His748=)
c.2147A= (p.His716=)
c.2129A= (p.His710=)
c.1502A= (p.His501=)
c.1313A= (p.His438=)
c.1643A= (p.His548=)
6g.107634934A>CCA365171919SOBPc.2090A>C (p.His697Pro)
c.2243A>C (p.His748Pro)
c.2147A>C (p.His716Pro)
c.2129A>C (p.His710Pro)
c.1502A>C (p.His501Pro)
c.1313A>C (p.His438Pro)
c.1643A>C (p.His548Pro)
6g.107634934A>GCA365171920SOBPc.2090A>G (p.His697Arg)
c.2243A>G (p.His748Arg)
c.2147A>G (p.His716Arg)
c.2129A>G (p.His710Arg)
c.1502A>G (p.His501Arg)
c.1313A>G (p.His438Arg)
c.1643A>G (p.His548Arg)
 dbSNP
6g.107634934A>TCA365171921SOBPc.2090A>T (p.His697Leu)
c.2243A>T (p.His748Leu)
c.2147A>T (p.His716Leu)
c.2129A>T (p.His710Leu)
c.1502A>T (p.His501Leu)
c.1313A>T (p.His438Leu)
c.1643A>T (p.His548Leu)
6g.107634935C>ACA365171922SOBPc.2091C>A (p.His697Gln)
c.2244C>A (p.His748Gln)
c.2148C>A (p.His716Gln)
c.2130C>A (p.His710Gln)
c.1503C>A (p.His501Gln)
c.1314C>A (p.His438Gln)
c.1644C>A (p.His548Gln)
 gnomAD v4
6g.107634935C=CA1653939506SOBPc.2091C= (p.His697=)
c.2244C= (p.His748=)
c.2148C= (p.His716=)
c.2130C= (p.His710=)
c.1503C= (p.His501=)
c.1314C= (p.His438=)
c.1644C= (p.His548=)
6g.107634935C>GCA365171923SOBPc.2091C>G (p.His697Gln)
c.2244C>G (p.His748Gln)
c.2148C>G (p.His716Gln)
c.2130C>G (p.His710Gln)
c.1503C>G (p.His501Gln)
c.1314C>G (p.His438Gln)
c.1644C>G (p.His548Gln)
 dbSNP gnomAD v2
6g.107634935C>TCA451582091SOBPc.2091C>T (p.His697=)
c.2244C>T (p.His748=)
c.2148C>T (p.His716=)
c.2130C>T (p.His710=)
c.1503C>T (p.His501=)
c.1314C>T (p.His438=)
c.1644C>T (p.His548=)
6g.107634936T>ACA365171924SOBPc.2092T>A (p.Cys698Ser)
c.2245T>A (p.Cys749Ser)
c.2149T>A (p.Cys717Ser)
c.2131T>A (p.Cys711Ser)
c.1504T>A (p.Cys502Ser)
c.1315T>A (p.Cys439Ser)
c.1645T>A (p.Cys549Ser)
6g.107634936T>CCA3946614SOBPc.2092T>C (p.Cys698Arg)
c.2245T>C (p.Cys749Arg)
c.2149T>C (p.Cys717Arg)
c.2131T>C (p.Cys711Arg)
c.1504T>C (p.Cys502Arg)
c.1315T>C (p.Cys439Arg)
c.1645T>C (p.Cys549Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.107634936T>GCA365171925SOBPc.2092T>G (p.Cys698Gly)
c.2245T>G (p.Cys749Gly)
c.2149T>G (p.Cys717Gly)
c.2131T>G (p.Cys711Gly)
c.1504T>G (p.Cys502Gly)
c.1315T>G (p.Cys439Gly)
c.1645T>G (p.Cys549Gly)
 gnomAD v4
6g.107634936T=CA1653939508SOBPc.2092T= (p.Cys698=)
c.2245T= (p.Cys749=)
c.2149T= (p.Cys717=)
c.2131T= (p.Cys711=)
c.1504T= (p.Cys502=)
c.1315T= (p.Cys439=)
c.1645T= (p.Cys549=)

Number of alleles fetched