Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.53985054C>ACA413252336PHF8c.2000G>T (p.Ser667Ile)
c.2303G>T (p.Ser768Ile)
c.*758G>T (n.*758G>T)
c.*1745G>T (n.*1745G>T)
n.1667G>T
c.2252G>T (p.Ser751Ile)
c.2411G>T (p.Ser804Ile)
c.2014G>T
c.1593G>T
c.730G>T (p.Val244Phe)
c.2108G>T (p.Ser703Ile)
Xg.53985054C>GCA413252338PHF8c.2000G>C (p.Ser667Thr)
c.2303G>C (p.Ser768Thr)
c.*758G>C (n.*758G>C)
c.*1745G>C (n.*1745G>C)
n.1667G>C
c.2252G>C (p.Ser751Thr)
c.2411G>C (p.Ser804Thr)
c.2014G>C
c.1593G>C
c.730G>C (p.Val244Leu)
c.2108G>C (p.Ser703Thr)
Xg.53985054C>TCA413252339PHF8c.2000G>A (p.Ser667Asn)
c.2303G>A (p.Ser768Asn)
c.*758G>A (n.*758G>A)
c.*1745G>A (n.*1745G>A)
n.1667G>A
c.2252G>A (p.Ser751Asn)
c.2411G>A (p.Ser804Asn)
c.2014G>A
c.1593G>A
c.730G>A (p.Val244Ile)
c.2108G>A (p.Ser703Asn)
Xg.53985055T>ACA413252343PHF8c.1999A>T (p.Ser667Cys)
c.2302A>T (p.Ser768Cys)
c.*757A>T (n.*757A>T)
c.*1744A>T (n.*1744A>T)
n.1666A>T
c.2251A>T (p.Ser751Cys)
c.2410A>T (p.Ser804Cys)
c.2013A>T
c.1592A>T
c.729A>T (p.Thr243=)
c.2107A>T (p.Ser703Cys)
Xg.53985055T>CCA413252347PHF8c.1999A>G (p.Ser667Gly)
c.2302A>G (p.Ser768Gly)
c.*757A>G (n.*757A>G)
c.*1744A>G (n.*1744A>G)
n.1666A>G
c.2251A>G (p.Ser751Gly)
c.2410A>G (p.Ser804Gly)
c.2013A>G
c.1592A>G
c.729A>G (p.Thr243=)
c.2107A>G (p.Ser703Gly)
Xg.53985055T>GCA413252345PHF8c.1999A>C (p.Ser667Arg)
c.2302A>C (p.Ser768Arg)
c.*757A>C (n.*757A>C)
c.*1744A>C (n.*1744A>C)
n.1666A>C
c.2251A>C (p.Ser751Arg)
c.2410A>C (p.Ser804Arg)
c.2013A>C
c.1592A>C
c.729A>C (p.Thr243=)
c.2107A>C (p.Ser703Arg)
Xg.53985056G>ACA413252349PHF8c.1998C>T (p.Asn666=)
c.2301C>T (p.Asn767=)
c.*756C>T (n.*756C>T)
c.*1743C>T (n.*1743C>T)
n.1665C>T
c.2250C>T (p.Asn750=)
c.2409C>T (p.Asn803=)
c.2012C>T
c.1591C>T
c.728C>T (p.Thr243Ile)
c.2106C>T (p.Asn702=)
Xg.53985056G>CCA413252351PHF8c.1998C>G (p.Asn666Lys)
c.2301C>G (p.Asn767Lys)
c.*756C>G (n.*756C>G)
c.*1743C>G (n.*1743C>G)
n.1665C>G
c.2250C>G (p.Asn750Lys)
c.2409C>G (p.Asn803Lys)
c.2012C>G
c.1591C>G
c.728C>G (p.Thr243Arg)
c.2106C>G (p.Asn702Lys)
Xg.53985056G>TCA413252353PHF8c.1998C>A (p.Asn666Lys)
c.2301C>A (p.Asn767Lys)
c.*756C>A (n.*756C>A)
c.*1743C>A (n.*1743C>A)
n.1665C>A
c.2250C>A (p.Asn750Lys)
c.2409C>A (p.Asn803Lys)
c.2012C>A
c.1591C>A
c.728C>A (p.Thr243Lys)
c.2106C>A (p.Asn702Lys)
Xg.53985057T>ACA413252357PHF8c.1997A>T (p.Asn666Ile)
c.2300A>T (p.Asn767Ile)
c.*755A>T (n.*755A>T)
c.*1742A>T (n.*1742A>T)
n.1664A>T
c.2249A>T (p.Asn750Ile)
c.2408A>T (p.Asn803Ile)
c.2011A>T
c.1590A>T
c.727A>T (p.Thr243Ser)
c.2105A>T (p.Asn702Ile)
Xg.53985057T>CCA413252358PHF8c.1997A>G (p.Asn666Ser)
c.2300A>G (p.Asn767Ser)
c.*755A>G (n.*755A>G)
c.*1742A>G (n.*1742A>G)
n.1664A>G
c.2249A>G (p.Asn750Ser)
c.2408A>G (p.Asn803Ser)
c.2011A>G
c.1590A>G
c.727A>G (p.Thr243Ala)
c.2105A>G (p.Asn702Ser)
Xg.53985057T>GCA413252360PHF8c.1997A>C (p.Asn666Thr)
c.2300A>C (p.Asn767Thr)
c.*755A>C (n.*755A>C)
c.*1742A>C (n.*1742A>C)
n.1664A>C
c.2249A>C (p.Asn750Thr)
c.2408A>C (p.Asn803Thr)
c.2011A>C
c.1590A>C
c.727A>C (p.Thr243Pro)
c.2105A>C (p.Asn702Thr)
Xg.53985058delCA2579619385PHF8c.1997del (p.Asn666ThrfsTer?)
c.2300del (p.Asn767ThrfsTer?)
c.*755del (n.*755del)
c.*1742del (n.*1742del)
n.1664del
c.2249del (p.Asn750ThrfsTer?)
c.2408del (p.Asn803ThrfsTer?)
c.2011del
c.1590del
c.727del (p.Thr243GlnfsTer?)
c.2105del (p.Asn702ThrfsTer?)
Xg.53985058T>ACA413252363PHF8c.1996A>T (p.Asn666Tyr)
c.2299A>T (p.Asn767Tyr)
c.*754A>T (n.*754A>T)
c.*1741A>T (n.*1741A>T)
n.1663A>T
c.2248A>T (p.Asn750Tyr)
c.2407A>T (p.Asn803Tyr)
c.2010A>T
c.1589A>T
c.726A>T (p.Leu242=)
c.2104A>T (p.Asn702Tyr)
Xg.53985058T>CCA10423311PHF8c.1996A>G (p.Asn666Asp)
c.2299A>G (p.Asn767Asp)
c.*754A>G (n.*754A>G)
c.*1741A>G (n.*1741A>G)
n.1663A>G
c.2248A>G (p.Asn750Asp)
c.2407A>G (p.Asn803Asp)
c.2010A>G
c.1589A>G
c.726A>G (p.Leu242=)
c.2104A>G (p.Asn702Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53985058T>GCA413252366PHF8c.1996A>C (p.Asn666His)
c.2299A>C (p.Asn767His)
c.*754A>C (n.*754A>C)
c.*1741A>C (n.*1741A>C)
n.1663A>C
c.2248A>C (p.Asn750His)
c.2407A>C (p.Asn803His)
c.2010A>C
c.1589A>C
c.726A>C (p.Leu242=)
c.2104A>C (p.Asn702His)
Xg.53985058T=CA2430030684PHF8c.1996A= (p.Asn666=)
c.2299A= (p.Asn767=)
c.*754A= (n.*754A=)
c.*1741A= (n.*1741A=)
n.1663A=
c.2248A= (p.Asn750=)
c.2407A= (p.Asn803=)
c.2010A=
c.1589A=
c.726A= (p.Leu242=)
c.2104A= (p.Asn702=)
Xg.53985059A>CCA413252369PHF8c.1995T>G (p.Ser665=)
c.2298T>G (p.Ser766=)
c.*753T>G (n.*753T>G)
c.*1740T>G (n.*1740T>G)
n.1662T>G
c.2247T>G (p.Ser749=)
c.2406T>G (p.Ser802=)
c.2009T>G
c.1588T>G
c.725T>G (p.Leu242Arg)
c.2103T>G (p.Ser701=)
Xg.53985059A>GCA413252371PHF8c.1995T>C (p.Ser665=)
c.2298T>C (p.Ser766=)
c.*753T>C (n.*753T>C)
c.*1740T>C (n.*1740T>C)
n.1662T>C
c.2247T>C (p.Ser749=)
c.2406T>C (p.Ser802=)
c.2009T>C
c.1588T>C
c.725T>C (p.Leu242Pro)
c.2103T>C (p.Ser701=)
Xg.53985059A>TCA413252373PHF8c.1995T>A (p.Ser665=)
c.2298T>A (p.Ser766=)
c.*753T>A (n.*753T>A)
c.*1740T>A (n.*1740T>A)
n.1662T>A
c.2247T>A (p.Ser749=)
c.2406T>A (p.Ser802=)
c.2009T>A
c.1588T>A
c.725T>A (p.Leu242Gln)
c.2103T>A (p.Ser701=)
Xg.53985059dupCA2693828138PHF8c.1995dup (p.Asn666Ter)
c.2298dup (p.Asn767Ter)
c.*753dup (n.*753dup)
c.*1740dup (n.*1740dup)
n.1662dup
c.2247dup (p.Asn750Ter)
c.2406dup (p.Asn803Ter)
c.2009dup
c.1588dup
c.725dup (p.Thr243AsnfsTer?)
c.2103dup (p.Asn702Ter)
 gnomAD v4
Xg.53985060G>ACA413252381PHF8c.1994C>T (p.Ser665Phe)
c.2297C>T (p.Ser766Phe)
c.*752C>T (n.*752C>T)
c.*1739C>T (n.*1739C>T)
n.1661C>T
c.2246C>T (p.Ser749Phe)
c.2405C>T (p.Ser802Phe)
c.2008C>T
c.1587C>T
c.724C>T (p.Leu242=)
c.2102C>T (p.Ser701Phe)
 gnomAD v4
Xg.53985060G>CCA413252379PHF8c.1994C>G (p.Ser665Cys)
c.2297C>G (p.Ser766Cys)
c.*752C>G (n.*752C>G)
c.*1739C>G (n.*1739C>G)
n.1661C>G
c.2246C>G (p.Ser749Cys)
c.2405C>G (p.Ser802Cys)
c.2008C>G
c.1587C>G
c.724C>G (p.Leu242Val)
c.2102C>G (p.Ser701Cys)
Xg.53985060G>TCA413252377PHF8c.1994C>A (p.Ser665Tyr)
c.2297C>A (p.Ser766Tyr)
c.*752C>A (n.*752C>A)
c.*1739C>A (n.*1739C>A)
n.1661C>A
c.2246C>A (p.Ser749Tyr)
c.2405C>A (p.Ser802Tyr)
c.2008C>A
c.1587C>A
c.724C>A (p.Leu242Ile)
c.2102C>A (p.Ser701Tyr)
Xg.53985061A>CCA413252384PHF8c.1993T>G (p.Ser665Ala)
c.2296T>G (p.Ser766Ala)
c.*751T>G (n.*751T>G)
c.*1738T>G (n.*1738T>G)
n.1660T>G
c.2245T>G (p.Ser749Ala)
c.2404T>G (p.Ser802Ala)
c.2007T>G
c.1586T>G
c.723T>G (p.Cys241Trp)
c.2101T>G (p.Ser701Ala)
Xg.53985061A>GCA413252386PHF8c.1993T>C (p.Ser665Pro)
c.2296T>C (p.Ser766Pro)
c.*751T>C (n.*751T>C)
c.*1738T>C (n.*1738T>C)
n.1660T>C
c.2245T>C (p.Ser749Pro)
c.2404T>C (p.Ser802Pro)
c.2007T>C
c.1586T>C
c.723T>C (p.Cys241=)
c.2101T>C (p.Ser701Pro)
Xg.53985061A>TCA413252389PHF8c.1993T>A (p.Ser665Thr)
c.2296T>A (p.Ser766Thr)
c.*751T>A (n.*751T>A)
c.*1738T>A (n.*1738T>A)
n.1660T>A
c.2245T>A (p.Ser749Thr)
c.2404T>A (p.Ser802Thr)
c.2007T>A
c.1586T>A
c.723T>A (p.Cys241Ter)
c.2101T>A (p.Ser701Thr)
Xg.53985062C>ACA413252392PHF8c.1992G>T (p.Val664=)
c.2295G>T (p.Val765=)
c.*750G>T (n.*750G>T)
c.*1737G>T (n.*1737G>T)
n.1659G>T
c.2244G>T (p.Val748=)
c.2403G>T (p.Val801=)
c.2006G>T
c.1585G>T
c.722G>T (p.Cys241Phe)
c.2100G>T (p.Val700=)
Xg.53985062C>GCA413252394PHF8c.1992G>C (p.Val664=)
c.2295G>C (p.Val765=)
c.*750G>C (n.*750G>C)
c.*1737G>C (n.*1737G>C)
n.1659G>C
c.2244G>C (p.Val748=)
c.2403G>C (p.Val801=)
c.2006G>C
c.1585G>C
c.722G>C (p.Cys241Ser)
c.2100G>C (p.Val700=)
Xg.53985062C>TCA413252396PHF8c.1992G>A (p.Val664=)
c.2295G>A (p.Val765=)
c.*750G>A (n.*750G>A)
c.*1737G>A (n.*1737G>A)
n.1659G>A
c.2244G>A (p.Val748=)
c.2403G>A (p.Val801=)
c.2006G>A
c.1585G>A
c.722G>A (p.Cys241Tyr)
c.2100G>A (p.Val700=)
Xg.53985063A>CCA413252399PHF8c.1991T>G (p.Val664Gly)
c.2294T>G (p.Val765Gly)
c.*749T>G (n.*749T>G)
c.*1736T>G (n.*1736T>G)
n.1658T>G
c.2243T>G (p.Val748Gly)
c.2402T>G (p.Val801Gly)
c.2005T>G
c.1584T>G
c.721T>G (p.Cys241Gly)
c.2099T>G (p.Val700Gly)
Xg.53985063A>GCA413252401PHF8c.1991T>C (p.Val664Ala)
c.2294T>C (p.Val765Ala)
c.*749T>C (n.*749T>C)
c.*1736T>C (n.*1736T>C)
n.1658T>C
c.2243T>C (p.Val748Ala)
c.2402T>C (p.Val801Ala)
c.2005T>C
c.1584T>C
c.721T>C (p.Cys241Arg)
c.2099T>C (p.Val700Ala)
Xg.53985063A>TCA413252403PHF8c.1991T>A (p.Val664Glu)
c.2294T>A (p.Val765Glu)
c.*749T>A (n.*749T>A)
c.*1736T>A (n.*1736T>A)
n.1658T>A
c.2243T>A (p.Val748Glu)
c.2402T>A (p.Val801Glu)
c.2005T>A
c.1584T>A
c.721T>A (p.Cys241Ser)
c.2099T>A (p.Val700Glu)
Xg.53985064C>ACA413252406PHF8c.1990G>T (p.Val664Leu)
c.2293G>T (p.Val765Leu)
c.*748G>T (n.*748G>T)
c.*1735G>T (n.*1735G>T)
n.1657G>T
c.2242G>T (p.Val748Leu)
c.2401G>T (p.Val801Leu)
c.2004G>T
c.1583G>T
c.720G>T (p.Gln240His)
c.2098G>T (p.Val700Leu)
Xg.53985064C>GCA413252408PHF8c.1990G>C (p.Val664Leu)
c.2293G>C (p.Val765Leu)
c.*748G>C (n.*748G>C)
c.*1735G>C (n.*1735G>C)
n.1657G>C
c.2242G>C (p.Val748Leu)
c.2401G>C (p.Val801Leu)
c.2004G>C
c.1583G>C
c.720G>C (p.Gln240His)
c.2098G>C (p.Val700Leu)
Xg.53985064C>TCA413252410PHF8c.1990G>A (p.Val664Met)
c.2293G>A (p.Val765Met)
c.*748G>A (n.*748G>A)
c.*1735G>A (n.*1735G>A)
n.1657G>A
c.2242G>A (p.Val748Met)
c.2401G>A (p.Val801Met)
c.2004G>A
c.1583G>A
c.720G>A (p.Gln240=)
c.2098G>A (p.Val700Met)
Xg.53985065T>ACA413252417PHF8c.1989A>T (p.Thr663=)
c.2292A>T (p.Thr764=)
c.*747A>T (n.*747A>T)
c.*1734A>T (n.*1734A>T)
n.1656A>T
c.2241A>T (p.Thr747=)
c.2400A>T (p.Thr800=)
c.2003A>T
c.1582A>T
c.719A>T (p.Gln240Leu)
c.2097A>T (p.Thr699=)
Xg.53985065T>CCA10423312PHF8c.1989A>G (p.Thr663=)
c.2292A>G (p.Thr764=)
c.*747A>G (n.*747A>G)
c.*1734A>G (n.*1734A>G)
n.1656A>G
c.2241A>G (p.Thr747=)
c.2400A>G (p.Thr800=)
c.2003A>G
c.1582A>G
c.719A>G (p.Gln240Arg)
c.2097A>G (p.Thr699=)
 dbSNP ExAC gnomAD v2
Xg.53985065T>GCA413252415PHF8c.1989A>C (p.Thr663=)
c.2292A>C (p.Thr764=)
c.*747A>C (n.*747A>C)
c.*1734A>C (n.*1734A>C)
n.1656A>C
c.2241A>C (p.Thr747=)
c.2400A>C (p.Thr800=)
c.2003A>C
c.1582A>C
c.719A>C (p.Gln240Pro)
c.2097A>C (p.Thr699=)
Xg.53985065T=CA2430030685PHF8c.1989A= (p.Thr663=)
c.2292A= (p.Thr764=)
c.*747A= (n.*747A=)
c.*1734A= (n.*1734A=)
n.1656A=
c.2241A= (p.Thr747=)
c.2400A= (p.Thr800=)
c.2003A=
c.1582A=
c.719A= (p.Gln240=)
c.2097A= (p.Thr699=)
Xg.53985066G>ACA413252420PHF8c.1988C>T (p.Thr663Ile)
c.2291C>T (p.Thr764Ile)
c.*746C>T (n.*746C>T)
c.*1733C>T (n.*1733C>T)
n.1655C>T
c.2240C>T (p.Thr747Ile)
c.2399C>T (p.Thr800Ile)
c.2002C>T
c.1581C>T
c.718C>T (p.Gln240Ter)
c.2096C>T (p.Thr699Ile)
Xg.53985066G>CCA413252425PHF8c.1988C>G (p.Thr663Arg)
c.2291C>G (p.Thr764Arg)
c.*746C>G (n.*746C>G)
c.*1733C>G (n.*1733C>G)
n.1655C>G
c.2240C>G (p.Thr747Arg)
c.2399C>G (p.Thr800Arg)
c.2002C>G
c.1581C>G
c.718C>G (p.Gln240Glu)
c.2096C>G (p.Thr699Arg)
Xg.53985066G=CA2430030686PHF8c.1988C= (p.Thr663=)
c.2291C= (p.Thr764=)
c.*746C= (n.*746C=)
c.*1733C= (n.*1733C=)
n.1655C=
c.2240C= (p.Thr747=)
c.2399C= (p.Thr800=)
c.2002C=
c.1581C=
c.718C= (p.Gln240=)
c.2096C= (p.Thr699=)
Xg.53985066G>TCA10423313PHF8c.1988C>A (p.Thr663Lys)
c.2291C>A (p.Thr764Lys)
c.*746C>A (n.*746C>A)
c.*1733C>A (n.*1733C>A)
n.1655C>A
c.2240C>A (p.Thr747Lys)
c.2399C>A (p.Thr800Lys)
c.2002C>A
c.1581C>A
c.718C>A (p.Gln240Lys)
c.2096C>A (p.Thr699Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53985067T>ACA413252428PHF8c.1987A>T (p.Thr663Ser)
c.2290A>T (p.Thr764Ser)
c.*745A>T (n.*745A>T)
c.*1732A>T (n.*1732A>T)
n.1654A>T
c.2239A>T (p.Thr747Ser)
c.2398A>T (p.Thr800Ser)
c.2001A>T
c.1580A>T
c.717A>T (p.Ala239=)
c.2095A>T (p.Thr699Ser)
Xg.53985067T>CCA10423314PHF8c.1987A>G (p.Thr663Ala)
c.2290A>G (p.Thr764Ala)
c.*745A>G (n.*745A>G)
c.*1732A>G (n.*1732A>G)
n.1654A>G
c.2239A>G (p.Thr747Ala)
c.2398A>G (p.Thr800Ala)
c.2001A>G
c.1580A>G
c.717A>G (p.Ala239=)
c.2095A>G (p.Thr699Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53985067T>GCA413252432PHF8c.1987A>C (p.Thr663Pro)
c.2290A>C (p.Thr764Pro)
c.*745A>C (n.*745A>C)
c.*1732A>C (n.*1732A>C)
n.1654A>C
c.2239A>C (p.Thr747Pro)
c.2398A>C (p.Thr800Pro)
c.2001A>C
c.1580A>C
c.717A>C (p.Ala239=)
c.2095A>C (p.Thr699Pro)
 dbSNP gnomAD v2 gnomAD v4
Xg.53985067T=CA2430030687PHF8c.1987A= (p.Thr663=)
c.2290A= (p.Thr764=)
c.*745A= (n.*745A=)
c.*1732A= (n.*1732A=)
n.1654A=
c.2239A= (p.Thr747=)
c.2398A= (p.Thr800=)
c.2001A=
c.1580A=
c.717A= (p.Ala239=)
c.2095A= (p.Thr699=)
Xg.53985068G>ACA413252435PHF8c.1986C>T (p.Gly662=)
c.2289C>T (p.Gly763=)
c.*744C>T (n.*744C>T)
c.*1731C>T (n.*1731C>T)
n.1653C>T
c.2238C>T (p.Gly746=)
c.2397C>T (p.Gly799=)
c.2000C>T
c.1579C>T
c.716C>T (p.Ala239Val)
c.2094C>T (p.Gly698=)
Xg.53985068G>CCA413252438PHF8c.1986C>G (p.Gly662=)
c.2289C>G (p.Gly763=)
c.*744C>G (n.*744C>G)
c.*1731C>G (n.*1731C>G)
n.1653C>G
c.2238C>G (p.Gly746=)
c.2397C>G (p.Gly799=)
c.2000C>G
c.1579C>G
c.716C>G (p.Ala239Gly)
c.2094C>G (p.Gly698=)
Xg.53985068G>TCA413252440PHF8c.1986C>A (p.Gly662=)
c.2289C>A (p.Gly763=)
c.*744C>A (n.*744C>A)
c.*1731C>A (n.*1731C>A)
n.1653C>A
c.2238C>A (p.Gly746=)
c.2397C>A (p.Gly799=)
c.2000C>A
c.1579C>A
c.716C>A (p.Ala239Glu)
c.2094C>A (p.Gly698=)
Xg.53985069C>ACA413252443PHF8c.1985G>T (p.Gly662Val)
c.2288G>T (p.Gly763Val)
c.*743G>T (n.*743G>T)
c.*1730G>T (n.*1730G>T)
n.1652G>T
c.2237G>T (p.Gly746Val)
c.2396G>T (p.Gly799Val)
c.1999G>T
c.1578G>T
c.715G>T (p.Ala239Ser)
c.2093G>T (p.Gly698Val)
Xg.53985069C>GCA413252445PHF8c.1985G>C (p.Gly662Ala)
c.2288G>C (p.Gly763Ala)
c.*743G>C (n.*743G>C)
c.*1730G>C (n.*1730G>C)
n.1652G>C
c.2237G>C (p.Gly746Ala)
c.2396G>C (p.Gly799Ala)
c.1999G>C
c.1578G>C
c.715G>C (p.Ala239Pro)
c.2093G>C (p.Gly698Ala)
Xg.53985069C>TCA413252448PHF8c.1985G>A (p.Gly662Asp)
c.2288G>A (p.Gly763Asp)
c.*743G>A (n.*743G>A)
c.*1730G>A (n.*1730G>A)
n.1652G>A
c.2237G>A (p.Gly746Asp)
c.2396G>A (p.Gly799Asp)
c.1999G>A
c.1578G>A
c.715G>A (p.Ala239Thr)
c.2093G>A (p.Gly698Asp)
Xg.53985070C>ACA413252450PHF8c.1984G>T (p.Gly662Cys)
c.2287G>T (p.Gly763Cys)
c.*742G>T (n.*742G>T)
c.*1729G>T (n.*1729G>T)
n.1651G>T
c.2236G>T (p.Gly746Cys)
c.2395G>T (p.Gly799Cys)
c.1998G>T
c.1577G>T
c.714G>T (p.Trp238Cys)
c.2092G>T (p.Gly698Cys)
Xg.53985070C>GCA413252453PHF8c.1984G>C (p.Gly662Arg)
c.2287G>C (p.Gly763Arg)
c.*742G>C (n.*742G>C)
c.*1729G>C (n.*1729G>C)
n.1651G>C
c.2236G>C (p.Gly746Arg)
c.2395G>C (p.Gly799Arg)
c.1998G>C
c.1577G>C
c.714G>C (p.Trp238Cys)
c.2092G>C (p.Gly698Arg)
Xg.53985070C>TCA413252455PHF8c.1984G>A (p.Gly662Ser)
c.2287G>A (p.Gly763Ser)
c.*742G>A (n.*742G>A)
c.*1729G>A (n.*1729G>A)
n.1651G>A
c.2236G>A (p.Gly746Ser)
c.2395G>A (p.Gly799Ser)
c.1998G>A
c.1577G>A
c.714G>A (p.Trp238Ter)
c.2092G>A (p.Gly698Ser)
Xg.53985071C>ACA413252463PHF8c.1983G>T (p.Leu661=)
c.2286G>T (p.Leu762=)
c.*741G>T (n.*741G>T)
c.*1728G>T (n.*1728G>T)
n.1650G>T
c.2235G>T (p.Leu745=)
c.2394G>T (p.Leu798=)
c.1997G>T
c.1576G>T
c.713G>T (p.Trp238Leu)
c.2091G>T (p.Leu697=)
Xg.53985071C>GCA413252458PHF8c.1983G>C (p.Leu661=)
c.2286G>C (p.Leu762=)
c.*741G>C (n.*741G>C)
c.*1728G>C (n.*1728G>C)
n.1650G>C
c.2235G>C (p.Leu745=)
c.2394G>C (p.Leu798=)
c.1997G>C
c.1576G>C
c.713G>C (p.Trp238Ser)
c.2091G>C (p.Leu697=)
Xg.53985071C>TCA413252460PHF8c.1983G>A (p.Leu661=)
c.2286G>A (p.Leu762=)
c.*741G>A (n.*741G>A)
c.*1728G>A (n.*1728G>A)
n.1650G>A
c.2235G>A (p.Leu745=)
c.2394G>A (p.Leu798=)
c.1997G>A
c.1576G>A
c.713G>A (p.Trp238Ter)
c.2091G>A (p.Leu697=)
Xg.53985072A>CCA413252466PHF8c.1982T>G (p.Leu661Arg)
c.2285T>G (p.Leu762Arg)
c.*740T>G (n.*740T>G)
c.*1727T>G (n.*1727T>G)
n.1649T>G
c.2234T>G (p.Leu745Arg)
c.2393T>G (p.Leu798Arg)
c.1996T>G
c.1575T>G
c.712T>G (p.Trp238Gly)
c.2090T>G (p.Leu697Arg)
Xg.53985072A>GCA413252468PHF8c.1982T>C (p.Leu661Pro)
c.2285T>C (p.Leu762Pro)
c.*740T>C (n.*740T>C)
c.*1727T>C (n.*1727T>C)
n.1649T>C
c.2234T>C (p.Leu745Pro)
c.2393T>C (p.Leu798Pro)
c.1996T>C
c.1575T>C
c.712T>C (p.Trp238Arg)
c.2090T>C (p.Leu697Pro)
Xg.53985072A>TCA413252470PHF8c.1982T>A (p.Leu661Gln)
c.2285T>A (p.Leu762Gln)
c.*740T>A (n.*740T>A)
c.*1727T>A (n.*1727T>A)
n.1649T>A
c.2234T>A (p.Leu745Gln)
c.2393T>A (p.Leu798Gln)
c.1996T>A
c.1575T>A
c.712T>A (p.Trp238Arg)
c.2090T>A (p.Leu697Gln)
Xg.53985073G>ACA516688920PHF8c.1981C>T (p.Leu661=)
c.2284C>T (p.Leu762=)
c.*739C>T (n.*739C>T)
c.*1726C>T (n.*1726C>T)
n.1648C>T
c.2233C>T (p.Leu745=)
c.2392C>T (p.Leu798=)
c.1995C>T
c.1574C>T
c.711C>T (p.Gly237=)
c.2089C>T (p.Leu697=)
 COSMIC COSMIC COSMIC COSMIC
Xg.53985073G>CCA413252473PHF8c.1981C>G (p.Leu661Val)
c.2284C>G (p.Leu762Val)
c.*739C>G (n.*739C>G)
c.*1726C>G (n.*1726C>G)
n.1648C>G
c.2233C>G (p.Leu745Val)
c.2392C>G (p.Leu798Val)
c.1995C>G
c.1574C>G
c.711C>G (p.Gly237=)
c.2089C>G (p.Leu697Val)
Xg.53985073G=CA2430030688PHF8c.1981C= (p.Leu661=)
c.2284C= (p.Leu762=)
c.*739C= (n.*739C=)
c.*1726C= (n.*1726C=)
n.1648C=
c.2233C= (p.Leu745=)
c.2392C= (p.Leu798=)
c.1995C=
c.1574C=
c.711C= (p.Gly237=)
c.2089C= (p.Leu697=)
Xg.53985073G>TCA10423315PHF8c.1981C>A (p.Leu661Met)
c.2284C>A (p.Leu762Met)
c.*739C>A (n.*739C>A)
c.*1726C>A (n.*1726C>A)
n.1648C>A
c.2233C>A (p.Leu745Met)
c.2392C>A (p.Leu798Met)
c.1995C>A
c.1574C>A
c.711C>A (p.Gly237=)
c.2089C>A (p.Leu697Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53985074C>ACA413252477PHF8c.1980G>T (p.Gly660=)
c.2283G>T (p.Gly761=)
c.*738G>T (n.*738G>T)
c.*1725G>T (n.*1725G>T)
n.1647G>T
c.2232G>T (p.Gly744=)
c.2391G>T (p.Gly797=)
c.1994G>T
c.1573G>T
c.710G>T (p.Gly237Val)
c.2088G>T (p.Gly696=)
Xg.53985074C>GCA413252479PHF8c.1980G>C (p.Gly660=)
c.2283G>C (p.Gly761=)
c.*738G>C (n.*738G>C)
c.*1725G>C (n.*1725G>C)
n.1647G>C
c.2232G>C (p.Gly744=)
c.2391G>C (p.Gly797=)
c.1994G>C
c.1573G>C
c.710G>C (p.Gly237Ala)
c.2088G>C (p.Gly696=)
 gnomAD v4
Xg.53985074C>TCA413252483PHF8c.1980G>A (p.Gly660=)
c.2283G>A (p.Gly761=)
c.*738G>A (n.*738G>A)
c.*1725G>A (n.*1725G>A)
n.1647G>A
c.2232G>A (p.Gly744=)
c.2391G>A (p.Gly797=)
c.1994G>A
c.1573G>A
c.710G>A (p.Gly237Asp)
c.2088G>A (p.Gly696=)
 gnomAD v4
Xg.53985075C>ACA413252486PHF8c.1979G>T (p.Gly660Val)
c.2282G>T (p.Gly761Val)
c.*737G>T (n.*737G>T)
c.*1724G>T (n.*1724G>T)
n.1646G>T
c.2231G>T (p.Gly744Val)
c.2390G>T (p.Gly797Val)
c.1993G>T
c.1572G>T
c.709G>T (p.Gly237Cys)
c.2087G>T (p.Gly696Val)
Xg.53985075C>GCA413252488PHF8c.1979G>C (p.Gly660Ala)
c.2282G>C (p.Gly761Ala)
c.*737G>C (n.*737G>C)
c.*1724G>C (n.*1724G>C)
n.1646G>C
c.2231G>C (p.Gly744Ala)
c.2390G>C (p.Gly797Ala)
c.1993G>C
c.1572G>C
c.709G>C (p.Gly237Arg)
c.2087G>C (p.Gly696Ala)
Xg.53985075C>TCA413252490PHF8c.1979G>A (p.Gly660Glu)
c.2282G>A (p.Gly761Glu)
c.*737G>A (n.*737G>A)
c.*1724G>A (n.*1724G>A)
n.1646G>A
c.2231G>A (p.Gly744Glu)
c.2390G>A (p.Gly797Glu)
c.1993G>A
c.1572G>A
c.709G>A (p.Gly237Ser)
c.2087G>A (p.Gly696Glu)
Xg.53985076C>ACA413252498PHF8c.1978G>T (p.Gly660Trp)
c.2281G>T (p.Gly761Trp)
c.*736G>T (n.*736G>T)
c.*1723G>T (n.*1723G>T)
n.1645G>T
c.2230G>T (p.Gly744Trp)
c.2389G>T (p.Gly797Trp)
c.1992G>T
c.1571G>T
c.708G>T (p.Val236=)
c.2086G>T (p.Gly696Trp)
Xg.53985076C>GCA413252496PHF8c.1978G>C (p.Gly660Arg)
c.2281G>C (p.Gly761Arg)
c.*736G>C (n.*736G>C)
c.*1723G>C (n.*1723G>C)
n.1645G>C
c.2230G>C (p.Gly744Arg)
c.2389G>C (p.Gly797Arg)
c.1992G>C
c.1571G>C
c.708G>C (p.Val236=)
c.2086G>C (p.Gly696Arg)
Xg.53985076C>TCA413252494PHF8c.1978G>A (p.Gly660Arg)
c.2281G>A (p.Gly761Arg)
c.*736G>A (n.*736G>A)
c.*1723G>A (n.*1723G>A)
n.1645G>A
c.2230G>A (p.Gly744Arg)
c.2389G>A (p.Gly797Arg)
c.1992G>A
c.1571G>A
c.708G>A (p.Val236=)
c.2086G>A (p.Gly696Arg)
Xg.53985077A=CA2430030689PHF8c.1977T= (p.Ser659=)
c.2280T= (p.Ser760=)
c.*735T= (n.*735T=)
c.*1722T= (n.*1722T=)
n.1644T=
c.2229T= (p.Ser743=)
c.2388T= (p.Ser796=)
c.1991T=
c.1570T=
c.707T= (p.Val236=)
c.2085T= (p.Ser695=)
Xg.53985077A>CCA413252504PHF8c.1977T>G (p.Ser659Arg)
c.2280T>G (p.Ser760Arg)
c.*735T>G (n.*735T>G)
c.*1722T>G (n.*1722T>G)
n.1644T>G
c.2229T>G (p.Ser743Arg)
c.2388T>G (p.Ser796Arg)
c.1991T>G
c.1570T>G
c.707T>G (p.Val236Gly)
c.2085T>G (p.Ser695Arg)
Xg.53985077A>GCA413252501PHF8c.1977T>C (p.Ser659=)
c.2280T>C (p.Ser760=)
c.*735T>C (n.*735T>C)
c.*1722T>C (n.*1722T>C)
n.1644T>C
c.2229T>C (p.Ser743=)
c.2388T>C (p.Ser796=)
c.1991T>C
c.1570T>C
c.707T>C (p.Val236Ala)
c.2085T>C (p.Ser695=)
 dbSNP gnomAD v4
Xg.53985077A>TCA413252503PHF8c.1977T>A (p.Ser659Arg)
c.2280T>A (p.Ser760Arg)
c.*735T>A (n.*735T>A)
c.*1722T>A (n.*1722T>A)
n.1644T>A
c.2229T>A (p.Ser743Arg)
c.2388T>A (p.Ser796Arg)
c.1991T>A
c.1570T>A
c.707T>A (p.Val236Glu)
c.2085T>A (p.Ser695Arg)
Xg.53985078C>ACA413252507PHF8c.1976G>T (p.Ser659Ile)
c.2279G>T (p.Ser760Ile)
c.*734G>T (n.*734G>T)
c.*1721G>T (n.*1721G>T)
n.1643G>T
c.2228G>T (p.Ser743Ile)
c.2387G>T (p.Ser796Ile)
c.1990G>T
c.1569G>T
c.706G>T (p.Val236Leu)
c.2084G>T (p.Ser695Ile)
Xg.53985078C>GCA413252509PHF8c.1976G>C (p.Ser659Thr)
c.2279G>C (p.Ser760Thr)
c.*734G>C (n.*734G>C)
c.*1721G>C (n.*1721G>C)
n.1643G>C
c.2228G>C (p.Ser743Thr)
c.2387G>C (p.Ser796Thr)
c.1990G>C
c.1569G>C
c.706G>C (p.Val236Leu)
c.2084G>C (p.Ser695Thr)
Xg.53985078C>TCA413252511PHF8c.1976G>A (p.Ser659Asn)
c.2279G>A (p.Ser760Asn)
c.*734G>A (n.*734G>A)
c.*1721G>A (n.*1721G>A)
n.1643G>A
c.2228G>A (p.Ser743Asn)
c.2387G>A (p.Ser796Asn)
c.1990G>A
c.1569G>A
c.706G>A (p.Val236Met)
c.2084G>A (p.Ser695Asn)
Xg.53985079T>ACA413252519PHF8c.1975A>T (p.Ser659Cys)
c.2278A>T (p.Ser760Cys)
c.*733A>T (n.*733A>T)
c.*1720A>T (n.*1720A>T)
n.1642A>T
c.2227A>T (p.Ser743Cys)
c.2386A>T (p.Ser796Cys)
c.1989A>T
c.1568A>T
c.705A>T (p.Ala235=)
c.2083A>T (p.Ser695Cys)
Xg.53985079T>CCA413252517PHF8c.1975A>G (p.Ser659Gly)
c.2278A>G (p.Ser760Gly)
c.*733A>G (n.*733A>G)
c.*1720A>G (n.*1720A>G)
n.1642A>G
c.2227A>G (p.Ser743Gly)
c.2386A>G (p.Ser796Gly)
c.1989A>G
c.1568A>G
c.705A>G (p.Ala235=)
c.2083A>G (p.Ser695Gly)
Xg.53985079T>GCA413252514PHF8c.1975A>C (p.Ser659Arg)
c.2278A>C (p.Ser760Arg)
c.*733A>C (n.*733A>C)
c.*1720A>C (n.*1720A>C)
n.1642A>C
c.2227A>C (p.Ser743Arg)
c.2386A>C (p.Ser796Arg)
c.1989A>C
c.1568A>C
c.705A>C (p.Ala235=)
c.2083A>C (p.Ser695Arg)
Xg.53985080G>ACA413252522PHF8c.1974C>T (p.Ser658=)
c.2277C>T (p.Ser759=)
c.*732C>T (n.*732C>T)
c.*1719C>T (n.*1719C>T)
n.1641C>T
c.2226C>T (p.Ser742=)
c.2385C>T (p.Ser795=)
c.1988C>T
c.1567C>T
c.704C>T (p.Ala235Val)
c.2082C>T (p.Ser694=)
Xg.53985080G>CCA413252523PHF8c.1974C>G (p.Ser658Arg)
c.2277C>G (p.Ser759Arg)
c.*732C>G (n.*732C>G)
c.*1719C>G (n.*1719C>G)
n.1641C>G
c.2226C>G (p.Ser742Arg)
c.2385C>G (p.Ser795Arg)
c.1988C>G
c.1567C>G
c.704C>G (p.Ala235Gly)
c.2082C>G (p.Ser694Arg)
Xg.53985080G>TCA413252526PHF8c.1974C>A (p.Ser658Arg)
c.2277C>A (p.Ser759Arg)
c.*732C>A (n.*732C>A)
c.*1719C>A (n.*1719C>A)
n.1641C>A
c.2226C>A (p.Ser742Arg)
c.2385C>A (p.Ser795Arg)
c.1988C>A
c.1567C>A
c.704C>A (p.Ala235Glu)
c.2082C>A (p.Ser694Arg)
Xg.53985081C>ACA413252529PHF8c.1973G>T (p.Ser658Ile)
c.2276G>T (p.Ser759Ile)
c.*731G>T (n.*731G>T)
c.*1718G>T (n.*1718G>T)
n.1640G>T
c.2225G>T (p.Ser742Ile)
c.2384G>T (p.Ser795Ile)
c.1987G>T
c.1566G>T
c.703G>T (p.Ala235Ser)
c.2081G>T (p.Ser694Ile)
Xg.53985081C=CA2430030690PHF8c.1973G= (p.Ser658=)
c.2276G= (p.Ser759=)
c.*731G= (n.*731G=)
c.*1718G= (n.*1718G=)
n.1640G=
c.2225G= (p.Ser742=)
c.2384G= (p.Ser795=)
c.1987G=
c.1566G=
c.703G= (p.Ala235=)
c.2081G= (p.Ser694=)
Xg.53985081C>GCA10423316PHF8c.1973G>C (p.Ser658Thr)
c.2276G>C (p.Ser759Thr)
c.*731G>C (n.*731G>C)
c.*1718G>C (n.*1718G>C)
n.1640G>C
c.2225G>C (p.Ser742Thr)
c.2384G>C (p.Ser795Thr)
c.1987G>C
c.1566G>C
c.703G>C (p.Ala235Pro)
c.2081G>C (p.Ser694Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53985081C>TCA413252533PHF8c.1973G>A (p.Ser658Asn)
c.2276G>A (p.Ser759Asn)
c.*731G>A (n.*731G>A)
c.*1718G>A (n.*1718G>A)
n.1640G>A
c.2225G>A (p.Ser742Asn)
c.2384G>A (p.Ser795Asn)
c.1987G>A
c.1566G>A
c.703G>A (p.Ala235Thr)
c.2081G>A (p.Ser694Asn)
 gnomAD v4
Xg.53985082T>ACA413252536PHF8c.1972A>T (p.Ser658Cys)
c.2275A>T (p.Ser759Cys)
c.*730A>T (n.*730A>T)
c.*1717A>T (n.*1717A>T)
n.1639A>T
c.2224A>T (p.Ser742Cys)
c.2383A>T (p.Ser795Cys)
c.1986A>T
c.1565A>T
c.702A>T (p.Pro234=)
c.2080A>T (p.Ser694Cys)
Xg.53985082T>CCA413252540PHF8c.1972A>G (p.Ser658Gly)
c.2275A>G (p.Ser759Gly)
c.*730A>G (n.*730A>G)
c.*1717A>G (n.*1717A>G)
n.1639A>G
c.2224A>G (p.Ser742Gly)
c.2383A>G (p.Ser795Gly)
c.1986A>G
c.1565A>G
c.702A>G (p.Pro234=)
c.2080A>G (p.Ser694Gly)
Xg.53985082T>GCA413252538PHF8c.1972A>C (p.Ser658Arg)
c.2275A>C (p.Ser759Arg)
c.*730A>C (n.*730A>C)
c.*1717A>C (n.*1717A>C)
n.1639A>C
c.2224A>C (p.Ser742Arg)
c.2383A>C (p.Ser795Arg)
c.1986A>C
c.1565A>C
c.702A>C (p.Pro234=)
c.2080A>C (p.Ser694Arg)
Xg.53985083G>ACA413252542PHF8c.1971C>T (p.Ser657=)
c.2274C>T (p.Ser758=)
c.*729C>T (n.*729C>T)
c.*1716C>T (n.*1716C>T)
n.1638C>T
c.2223C>T (p.Ser741=)
c.2382C>T (p.Ser794=)
c.1985C>T
c.1564C>T
c.701C>T (p.Pro234Leu)
c.2079C>T (p.Ser693=)
 gnomAD v4
Xg.53985083G>CCA413252544PHF8c.1971C>G (p.Ser657=)
c.2274C>G (p.Ser758=)
c.*729C>G (n.*729C>G)
c.*1716C>G (n.*1716C>G)
n.1638C>G
c.2223C>G (p.Ser741=)
c.2382C>G (p.Ser794=)
c.1985C>G
c.1564C>G
c.701C>G (p.Pro234Arg)
c.2079C>G (p.Ser693=)
Xg.53985083G>TCA413252546PHF8c.1971C>A (p.Ser657=)
c.2274C>A (p.Ser758=)
c.*729C>A (n.*729C>A)
c.*1716C>A (n.*1716C>A)
n.1638C>A
c.2223C>A (p.Ser741=)
c.2382C>A (p.Ser794=)
c.1985C>A
c.1564C>A
c.701C>A (p.Pro234Gln)
c.2079C>A (p.Ser693=)
Xg.53985084G>ACA413252549PHF8c.1970C>T (p.Ser657Phe)
c.2273C>T (p.Ser758Phe)
c.*728C>T (n.*728C>T)
c.*1715C>T (n.*1715C>T)
n.1637C>T
c.2222C>T (p.Ser741Phe)
c.2381C>T (p.Ser794Phe)
c.1984C>T
c.1563C>T
c.700C>T (p.Pro234Ser)
c.2078C>T (p.Ser693Phe)
 gnomAD v4
Xg.53985084G>CCA10423317PHF8c.1970C>G (p.Ser657Cys)
c.2273C>G (p.Ser758Cys)
c.*728C>G (n.*728C>G)
c.*1715C>G (n.*1715C>G)
n.1637C>G
c.2222C>G (p.Ser741Cys)
c.2381C>G (p.Ser794Cys)
c.1984C>G
c.1563C>G
c.700C>G (p.Pro234Ala)
c.2078C>G (p.Ser693Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53985084G=CA2430030691PHF8c.1970C= (p.Ser657=)
c.2273C= (p.Ser758=)
c.*728C= (n.*728C=)
c.*1715C= (n.*1715C=)
n.1637C=
c.2222C= (p.Ser741=)
c.2381C= (p.Ser794=)
c.1984C=
c.1563C=
c.700C= (p.Pro234=)
c.2078C= (p.Ser693=)
Xg.53985084G>TCA413252553PHF8c.1970C>A (p.Ser657Tyr)
c.2273C>A (p.Ser758Tyr)
c.*728C>A (n.*728C>A)
c.*1715C>A (n.*1715C>A)
n.1637C>A
c.2222C>A (p.Ser741Tyr)
c.2381C>A (p.Ser794Tyr)
c.1984C>A
c.1563C>A
c.700C>A (p.Pro234Thr)
c.2078C>A (p.Ser693Tyr)
Xg.53985085A>CCA413252557PHF8c.1969T>G (p.Ser657Ala)
c.2272T>G (p.Ser758Ala)
c.*727T>G (n.*727T>G)
c.*1714T>G (n.*1714T>G)
n.1636T>G
c.2221T>G (p.Ser741Ala)
c.2380T>G (p.Ser794Ala)
c.1983T>G
c.1562T>G
c.699T>G (p.Ala233=)
c.2077T>G (p.Ser693Ala)
Xg.53985085A>GCA413252559PHF8c.1969T>C (p.Ser657Pro)
c.2272T>C (p.Ser758Pro)
c.*727T>C (n.*727T>C)
c.*1714T>C (n.*1714T>C)
n.1636T>C
c.2221T>C (p.Ser741Pro)
c.2380T>C (p.Ser794Pro)
c.1983T>C
c.1562T>C
c.699T>C (p.Ala233=)
c.2077T>C (p.Ser693Pro)
Xg.53985085A>TCA413252561PHF8c.1969T>A (p.Ser657Thr)
c.2272T>A (p.Ser758Thr)
c.*727T>A (n.*727T>A)
c.*1714T>A (n.*1714T>A)
n.1636T>A
c.2221T>A (p.Ser741Thr)
c.2380T>A (p.Ser794Thr)
c.1983T>A
c.1562T>A
c.699T>A (p.Ala233=)
c.2077T>A (p.Ser693Thr)
Xg.53985086G>ACA413252564PHF8c.1968C>T (p.Ser656=)
c.2271C>T (p.Ser757=)
c.*726C>T (n.*726C>T)
c.*1713C>T (n.*1713C>T)
n.1635C>T
c.2220C>T (p.Ser740=)
c.2379C>T (p.Ser793=)
c.1982C>T
c.1561C>T
c.698C>T (p.Ala233Val)
c.2076C>T (p.Ser692=)
Xg.53985086G>CCA413252566PHF8c.1968C>G (p.Ser656Arg)
c.2271C>G (p.Ser757Arg)
c.*726C>G (n.*726C>G)
c.*1713C>G (n.*1713C>G)
n.1635C>G
c.2220C>G (p.Ser740Arg)
c.2379C>G (p.Ser793Arg)
c.1982C>G
c.1561C>G
c.698C>G (p.Ala233Gly)
c.2076C>G (p.Ser692Arg)
Xg.53985086G>TCA413252568PHF8c.1968C>A (p.Ser656Arg)
c.2271C>A (p.Ser757Arg)
c.*726C>A (n.*726C>A)
c.*1713C>A (n.*1713C>A)
n.1635C>A
c.2220C>A (p.Ser740Arg)
c.2379C>A (p.Ser793Arg)
c.1982C>A
c.1561C>A
c.698C>A (p.Ala233Asp)
c.2076C>A (p.Ser692Arg)
 gnomAD v4
Xg.53985087C>ACA413252573PHF8c.1967G>T (p.Ser656Ile)
c.2270G>T (p.Ser757Ile)
c.*725G>T (n.*725G>T)
c.*1712G>T (n.*1712G>T)
n.1634G>T
c.2219G>T (p.Ser740Ile)
c.2378G>T (p.Ser793Ile)
c.1981G>T
c.1560G>T
c.697G>T (p.Ala233Ser)
c.2075G>T (p.Ser692Ile)
Xg.53985087C>GCA413252576PHF8c.1967G>C (p.Ser656Thr)
c.2270G>C (p.Ser757Thr)
c.*725G>C (n.*725G>C)
c.*1712G>C (n.*1712G>C)
n.1634G>C
c.2219G>C (p.Ser740Thr)
c.2378G>C (p.Ser793Thr)
c.1981G>C
c.1560G>C
c.697G>C (p.Ala233Pro)
c.2075G>C (p.Ser692Thr)
Xg.53985087C>TCA413252571PHF8c.1967G>A (p.Ser656Asn)
c.2270G>A (p.Ser757Asn)
c.*725G>A (n.*725G>A)
c.*1712G>A (n.*1712G>A)
n.1634G>A
c.2219G>A (p.Ser740Asn)
c.2378G>A (p.Ser793Asn)
c.1981G>A
c.1560G>A
c.697G>A (p.Ala233Thr)
c.2075G>A (p.Ser692Asn)
Xg.53985088T>ACA413252579PHF8c.1966A>T (p.Ser656Cys)
c.2269A>T (p.Ser757Cys)
c.*724A>T (n.*724A>T)
c.*1711A>T (n.*1711A>T)
n.1633A>T
c.2218A>T (p.Ser740Cys)
c.2377A>T (p.Ser793Cys)
c.1980A>T
c.1559A>T
c.696A>T (p.Gly232=)
c.2074A>T (p.Ser692Cys)
Xg.53985088T>CCA413252581PHF8c.1966A>G (p.Ser656Gly)
c.2269A>G (p.Ser757Gly)
c.*724A>G (n.*724A>G)
c.*1711A>G (n.*1711A>G)
n.1633A>G
c.2218A>G (p.Ser740Gly)
c.2377A>G (p.Ser793Gly)
c.1980A>G
c.1559A>G
c.696A>G (p.Gly232=)
c.2074A>G (p.Ser692Gly)
Xg.53985088T>GCA413252583PHF8c.1966A>C (p.Ser656Arg)
c.2269A>C (p.Ser757Arg)
c.*724A>C (n.*724A>C)
c.*1711A>C (n.*1711A>C)
n.1633A>C
c.2218A>C (p.Ser740Arg)
c.2377A>C (p.Ser793Arg)
c.1980A>C
c.1559A>C
c.696A>C (p.Gly232=)
c.2074A>C (p.Ser692Arg)
Xg.53985089C>ACA413252586PHF8c.1965G>T (p.Gly655=)
c.2268G>T (p.Gly756=)
c.*723G>T (n.*723G>T)
c.*1710G>T (n.*1710G>T)
n.1632G>T
c.2217G>T (p.Gly739=)
c.2376G>T (p.Gly792=)
c.1979G>T
c.1558G>T
c.695G>T (p.Gly232Val)
c.2073G>T (p.Gly691=)
Xg.53985089C>GCA413252588PHF8c.1965G>C (p.Gly655=)
c.2268G>C (p.Gly756=)
c.*723G>C (n.*723G>C)
c.*1710G>C (n.*1710G>C)
n.1632G>C
c.2217G>C (p.Gly739=)
c.2376G>C (p.Gly792=)
c.1979G>C
c.1558G>C
c.695G>C (p.Gly232Ala)
c.2073G>C (p.Gly691=)
Xg.53985089C>TCA413252590PHF8c.1965G>A (p.Gly655=)
c.2268G>A (p.Gly756=)
c.*723G>A (n.*723G>A)
c.*1710G>A (n.*1710G>A)
n.1632G>A
c.2217G>A (p.Gly739=)
c.2376G>A (p.Gly792=)
c.1979G>A
c.1558G>A
c.695G>A (p.Gly232Glu)
c.2073G>A (p.Gly691=)
Xg.53985090C>ACA413252597PHF8c.1964G>T (p.Gly655Val)
c.2267G>T (p.Gly756Val)
c.*722G>T (n.*722G>T)
c.*1709G>T (n.*1709G>T)
n.1631G>T
c.2216G>T (p.Gly739Val)
c.2375G>T (p.Gly792Val)
c.1978G>T
c.1557G>T
c.694G>T (p.Gly232Ter)
c.2072G>T (p.Gly691Val)
Xg.53985090C>GCA413252595PHF8c.1964G>C (p.Gly655Ala)
c.2267G>C (p.Gly756Ala)
c.*722G>C (n.*722G>C)
c.*1709G>C (n.*1709G>C)
n.1631G>C
c.2216G>C (p.Gly739Ala)
c.2375G>C (p.Gly792Ala)
c.1978G>C
c.1557G>C
c.694G>C (p.Gly232Arg)
c.2072G>C (p.Gly691Ala)
Xg.53985090C>TCA413252594PHF8c.1964G>A (p.Gly655Glu)
c.2267G>A (p.Gly756Glu)
c.*722G>A (n.*722G>A)
c.*1709G>A (n.*1709G>A)
n.1631G>A
c.2216G>A (p.Gly739Glu)
c.2375G>A (p.Gly792Glu)
c.1978G>A
c.1557G>A
c.694G>A (p.Gly232Arg)
c.2072G>A (p.Gly691Glu)
Xg.53985091C>ACA413252600PHF8c.1963G>T (p.Gly655Trp)
c.2266G>T (p.Gly756Trp)
c.*721G>T (n.*721G>T)
c.*1708G>T (n.*1708G>T)
n.1630G>T
c.2215G>T (p.Gly739Trp)
c.2374G>T (p.Gly792Trp)
c.1977G>T
c.1556G>T
c.693G>T (p.Val231=)
c.2071G>T (p.Gly691Trp)
Xg.53985091C>GCA413252602PHF8c.1963G>C (p.Gly655Arg)
c.2266G>C (p.Gly756Arg)
c.*721G>C (n.*721G>C)
c.*1708G>C (n.*1708G>C)
n.1630G>C
c.2215G>C (p.Gly739Arg)
c.2374G>C (p.Gly792Arg)
c.1977G>C
c.1556G>C
c.693G>C (p.Val231=)
c.2071G>C (p.Gly691Arg)
Xg.53985091C>TCA413252604PHF8c.1963G>A (p.Gly655Arg)
c.2266G>A (p.Gly756Arg)
c.*721G>A (n.*721G>A)
c.*1708G>A (n.*1708G>A)
n.1630G>A
c.2215G>A (p.Gly739Arg)
c.2374G>A (p.Gly792Arg)
c.1977G>A
c.1556G>A
c.693G>A (p.Val231=)
c.2071G>A (p.Gly691Arg)
Xg.53985092A>CCA413252607PHF8c.1962T>G (p.Ser654Arg)
c.2265T>G (p.Ser755Arg)
c.*720T>G (n.*720T>G)
c.*1707T>G (n.*1707T>G)
n.1629T>G
c.2214T>G (p.Ser738Arg)
c.2373T>G (p.Ser791Arg)
c.1976T>G
c.1555T>G
c.692T>G (p.Val231Gly)
c.2070T>G (p.Ser690Arg)
Xg.53985092A>GCA413252609PHF8c.1962T>C (p.Ser654=)
c.2265T>C (p.Ser755=)
c.*720T>C (n.*720T>C)
c.*1707T>C (n.*1707T>C)
n.1629T>C
c.2214T>C (p.Ser738=)
c.2373T>C (p.Ser791=)
c.1976T>C
c.1555T>C
c.692T>C (p.Val231Ala)
c.2070T>C (p.Ser690=)
Xg.53985092A>TCA413252611PHF8c.1962T>A (p.Ser654Arg)
c.2265T>A (p.Ser755Arg)
c.*720T>A (n.*720T>A)
c.*1707T>A (n.*1707T>A)
n.1629T>A
c.2214T>A (p.Ser738Arg)
c.2373T>A (p.Ser791Arg)
c.1976T>A
c.1555T>A
c.692T>A (p.Val231Glu)
c.2070T>A (p.Ser690Arg)
Xg.53985093C>ACA413252614PHF8c.1961G>T (p.Ser654Ile)
c.2264G>T (p.Ser755Ile)
c.*719G>T (n.*719G>T)
c.*1706G>T (n.*1706G>T)
n.1628G>T
c.2213G>T (p.Ser738Ile)
c.2372G>T (p.Ser791Ile)
c.1975G>T
c.1554G>T
c.691G>T (p.Val231Leu)
c.2069G>T (p.Ser690Ile)
Xg.53985093C>GCA413252619PHF8c.1961G>C (p.Ser654Thr)
c.2264G>C (p.Ser755Thr)
c.*719G>C (n.*719G>C)
c.*1706G>C (n.*1706G>C)
n.1628G>C
c.2213G>C (p.Ser738Thr)
c.2372G>C (p.Ser791Thr)
c.1975G>C
c.1554G>C
c.691G>C (p.Val231Leu)
c.2069G>C (p.Ser690Thr)
Xg.53985093C>TCA413252616PHF8c.1961G>A (p.Ser654Asn)
c.2264G>A (p.Ser755Asn)
c.*719G>A (n.*719G>A)
c.*1706G>A (n.*1706G>A)
n.1628G>A
c.2213G>A (p.Ser738Asn)
c.2372G>A (p.Ser791Asn)
c.1975G>A
c.1554G>A
c.691G>A (p.Val231Met)
c.2069G>A (p.Ser690Asn)
Xg.53985094T>ACA413252622PHF8c.1960A>T (p.Ser654Cys)
c.2263A>T (p.Ser755Cys)
c.*718A>T (n.*718A>T)
c.*1705A>T (n.*1705A>T)
n.1627A>T
c.2212A>T (p.Ser738Cys)
c.2371A>T (p.Ser791Cys)
c.1974A>T
c.1553A>T
c.690A>T (p.Ala230=)
c.2068A>T (p.Ser690Cys)
Xg.53985094T>CCA413252624PHF8c.1960A>G (p.Ser654Gly)
c.2263A>G (p.Ser755Gly)
c.*718A>G (n.*718A>G)
c.*1705A>G (n.*1705A>G)
n.1627A>G
c.2212A>G (p.Ser738Gly)
c.2371A>G (p.Ser791Gly)
c.1974A>G
c.1553A>G
c.690A>G (p.Ala230=)
c.2068A>G (p.Ser690Gly)
 gnomAD v4
Xg.53985094T>GCA413252626PHF8c.1960A>C (p.Ser654Arg)
c.2263A>C (p.Ser755Arg)
c.*718A>C (n.*718A>C)
c.*1705A>C (n.*1705A>C)
n.1627A>C
c.2212A>C (p.Ser738Arg)
c.2371A>C (p.Ser791Arg)
c.1974A>C
c.1553A>C
c.690A>C (p.Ala230=)
c.2068A>C (p.Ser690Arg)
Xg.53985095G>ACA413252629PHF8c.1959C>T (p.Ser653=)
c.2262C>T (p.Ser754=)
c.*717C>T (n.*717C>T)
c.*1704C>T (n.*1704C>T)
n.1626C>T
c.2211C>T (p.Ser737=)
c.2370C>T (p.Ser790=)
c.1973C>T
c.1552C>T
c.689C>T (p.Ala230Val)
c.2067C>T (p.Ser689=)
Xg.53985095G>CCA413252632PHF8c.1959C>G (p.Ser653Arg)
c.2262C>G (p.Ser754Arg)
c.*717C>G (n.*717C>G)
c.*1704C>G (n.*1704C>G)
n.1626C>G
c.2211C>G (p.Ser737Arg)
c.2370C>G (p.Ser790Arg)
c.1973C>G
c.1552C>G
c.689C>G (p.Ala230Gly)
c.2067C>G (p.Ser689Arg)
Xg.53985095G>TCA413252634PHF8c.1959C>A (p.Ser653Arg)
c.2262C>A (p.Ser754Arg)
c.*717C>A (n.*717C>A)
c.*1704C>A (n.*1704C>A)
n.1626C>A
c.2211C>A (p.Ser737Arg)
c.2370C>A (p.Ser790Arg)
c.1973C>A
c.1552C>A
c.689C>A (p.Ala230Glu)
c.2067C>A (p.Ser689Arg)
Xg.53985096C>ACA413252638PHF8c.1958G>T (p.Ser653Ile)
c.2261G>T (p.Ser754Ile)
c.*716G>T (n.*716G>T)
c.*1703G>T (n.*1703G>T)
n.1625G>T
c.2210G>T (p.Ser737Ile)
c.2369G>T (p.Ser790Ile)
c.1972G>T
c.1551G>T
c.688G>T (p.Ala230Ser)
c.2066G>T (p.Ser689Ile)
Xg.53985096C=CA2430030692PHF8c.1958G= (p.Ser653=)
c.2261G= (p.Ser754=)
c.*716G= (n.*716G=)
c.*1703G= (n.*1703G=)
n.1625G=
c.2210G= (p.Ser737=)
c.2369G= (p.Ser790=)
c.1972G=
c.1551G=
c.688G= (p.Ala230=)
c.2066G= (p.Ser689=)
Xg.53985096C>GCA413252640PHF8c.1958G>C (p.Ser653Thr)
c.2261G>C (p.Ser754Thr)
c.*716G>C (n.*716G>C)
c.*1703G>C (n.*1703G>C)
n.1625G>C
c.2210G>C (p.Ser737Thr)
c.2369G>C (p.Ser790Thr)
c.1972G>C
c.1551G>C
c.688G>C (p.Ala230Pro)
c.2066G>C (p.Ser689Thr)
Xg.53985096C>TCA329924351PHF8c.1958G>A (p.Ser653Asn)
c.2261G>A (p.Ser754Asn)
c.*716G>A (n.*716G>A)
c.*1703G>A (n.*1703G>A)
n.1625G>A
c.2210G>A (p.Ser737Asn)
c.2369G>A (p.Ser790Asn)
c.1972G>A
c.1551G>A
c.688G>A (p.Ala230Thr)
c.2066G>A (p.Ser689Asn)
 dbSNP
Xg.53985097T>ACA413252643PHF8c.1957A>T (p.Ser653Cys)
c.2260A>T (p.Ser754Cys)
c.*715A>T (n.*715A>T)
c.*1702A>T (n.*1702A>T)
n.1624A>T
c.2209A>T (p.Ser737Cys)
c.2368A>T (p.Ser790Cys)
c.1971A>T
c.1550A>T
c.687A>T (p.Glu229Asp)
c.2065A>T (p.Ser689Cys)
Xg.53985097T>CCA413252644PHF8c.1957A>G (p.Ser653Gly)
c.2260A>G (p.Ser754Gly)
c.*715A>G (n.*715A>G)
c.*1702A>G (n.*1702A>G)
n.1624A>G
c.2209A>G (p.Ser737Gly)
c.2368A>G (p.Ser790Gly)
c.1971A>G
c.1550A>G
c.687A>G (p.Glu229=)
c.2065A>G (p.Ser689Gly)
Xg.53985097T>GCA413252645PHF8c.1957A>C (p.Ser653Arg)
c.2260A>C (p.Ser754Arg)
c.*715A>C (n.*715A>C)
c.*1702A>C (n.*1702A>C)
n.1624A>C
c.2209A>C (p.Ser737Arg)
c.2368A>C (p.Ser790Arg)
c.1971A>C
c.1550A>C
c.687A>C (p.Glu229Asp)
c.2065A>C (p.Ser689Arg)
Xg.53985098T>ACA413252646PHF8c.1956A>T (p.Arg652=)
c.2259A>T (p.Arg753=)
c.*714A>T (n.*714A>T)
c.*1701A>T (n.*1701A>T)
n.1623A>T
c.2208A>T (p.Arg736=)
c.2367A>T (p.Arg789=)
c.1970A>T
c.1549A>T
c.686A>T (p.Glu229Val)
c.2064A>T (p.Arg688=)
Xg.53985098T>CCA413252648PHF8c.1956A>G (p.Arg652=)
c.2259A>G (p.Arg753=)
c.*714A>G (n.*714A>G)
c.*1701A>G (n.*1701A>G)
n.1623A>G
c.2208A>G (p.Arg736=)
c.2367A>G (p.Arg789=)
c.1970A>G
c.1549A>G
c.686A>G (p.Glu229Gly)
c.2064A>G (p.Arg688=)
Xg.53985098T>GCA413252647PHF8c.1956A>C (p.Arg652=)
c.2259A>C (p.Arg753=)
c.*714A>C (n.*714A>C)
c.*1701A>C (n.*1701A>C)
n.1623A>C
c.2208A>C (p.Arg736=)
c.2367A>C (p.Arg789=)
c.1970A>C
c.1549A>C
c.686A>C (p.Glu229Ala)
c.2064A>C (p.Arg688=)
 gnomAD v4
Xg.53985099C>ACA413252649PHF8c.1955G>T (p.Arg652Leu)
c.2258G>T (p.Arg753Leu)
c.*713G>T (n.*713G>T)
c.*1700G>T (n.*1700G>T)
n.1622G>T
c.2207G>T (p.Arg736Leu)
c.2366G>T (p.Arg789Leu)
c.1969G>T
c.1548G>T
c.685G>T (p.Glu229Ter)
c.2063G>T (p.Arg688Leu)
Xg.53985099C=CA2430030693PHF8c.1955G= (p.Arg652=)
c.2258G= (p.Arg753=)
c.*713G= (n.*713G=)
c.*1700G= (n.*1700G=)
n.1622G=
c.2207G= (p.Arg736=)
c.2366G= (p.Arg789=)
c.1969G=
c.1548G=
c.685G= (p.Glu229=)
c.2063G= (p.Arg688=)
Xg.53985099C>GCA413252650PHF8c.1955G>C (p.Arg652Pro)
c.2258G>C (p.Arg753Pro)
c.*713G>C (n.*713G>C)
c.*1700G>C (n.*1700G>C)
n.1622G>C
c.2207G>C (p.Arg736Pro)
c.2366G>C (p.Arg789Pro)
c.1969G>C
c.1548G>C
c.685G>C (p.Glu229Gln)
c.2063G>C (p.Arg688Pro)
 dbSNP
Xg.53985099C>TCA413252651PHF8c.1955G>A (p.Arg652Gln)
c.2258G>A (p.Arg753Gln)
c.*713G>A (n.*713G>A)
c.*1700G>A (n.*1700G>A)
n.1622G>A
c.2207G>A (p.Arg736Gln)
c.2366G>A (p.Arg789Gln)
c.1969G>A
c.1548G>A
c.685G>A (p.Glu229Lys)
c.2063G>A (p.Arg688Gln)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC
Xg.53985100G>ACA413252654PHF8c.1954C>T (p.Arg652Ter)
c.2257C>T (p.Arg753Ter)
c.*712C>T (n.*712C>T)
c.*1699C>T (n.*1699C>T)
n.1621C>T
c.2206C>T (p.Arg736Ter)
c.2365C>T (p.Arg789Ter)
c.1968C>T
c.1547C>T
c.684C>T (p.Ile228=)
c.2062C>T (p.Arg688Ter)
 ClinVar
Xg.53985100G>CCA413252656PHF8c.1954C>G (p.Arg652Gly)
c.2257C>G (p.Arg753Gly)
c.*712C>G (n.*712C>G)
c.*1699C>G (n.*1699C>G)
n.1621C>G
c.2206C>G (p.Arg736Gly)
c.2365C>G (p.Arg789Gly)
c.1968C>G
c.1547C>G
c.684C>G (p.Ile228Met)
c.2062C>G (p.Arg688Gly)
 gnomAD v4
Xg.53985100G>TCA516688975PHF8c.1954C>A (p.Arg652=)
c.2257C>A (p.Arg753=)
c.*712C>A (n.*712C>A)
c.*1699C>A (n.*1699C>A)
n.1621C>A
c.2206C>A (p.Arg736=)
c.2365C>A (p.Arg789=)
c.1968C>A
c.1547C>A
c.684C>A (p.Ile228=)
c.2062C>A (p.Arg688=)
Xg.53985101A>CCA413252658PHF8c.1953T>G (p.Asp651Glu)
c.2256T>G (p.Asp752Glu)
c.*711T>G (n.*711T>G)
c.*1698T>G (n.*1698T>G)
n.1620T>G
c.2205T>G (p.Asp735Glu)
c.2364T>G (p.Asp788Glu)
c.1967T>G
c.1546T>G
c.683T>G (p.Ile228Ser)
c.2061T>G (p.Asp687Glu)
 gnomAD v4
Xg.53985101A>GCA413252661PHF8c.1953T>C (p.Asp651=)
c.2256T>C (p.Asp752=)
c.*711T>C (n.*711T>C)
c.*1698T>C (n.*1698T>C)
n.1620T>C
c.2205T>C (p.Asp735=)
c.2364T>C (p.Asp788=)
c.1967T>C
c.1546T>C
c.683T>C (p.Ile228Thr)
c.2061T>C (p.Asp687=)
Xg.53985101A>TCA413252663PHF8c.1953T>A (p.Asp651Glu)
c.2256T>A (p.Asp752Glu)
c.*711T>A (n.*711T>A)
c.*1698T>A (n.*1698T>A)
n.1620T>A
c.2205T>A (p.Asp735Glu)
c.2364T>A (p.Asp788Glu)
c.1967T>A
c.1546T>A
c.683T>A (p.Ile228Asn)
c.2061T>A (p.Asp687Glu)
Xg.53985102T>ACA413252665PHF8c.1952A>T (p.Asp651Val)
c.2255A>T (p.Asp752Val)
c.*710A>T (n.*710A>T)
c.*1697A>T (n.*1697A>T)
n.1619A>T
c.2204A>T (p.Asp735Val)
c.2363A>T (p.Asp788Val)
c.1966A>T
c.1545A>T
c.682A>T (p.Ile228Phe)
c.2060A>T (p.Asp687Val)
Xg.53985102T>CCA413252667PHF8c.1952A>G (p.Asp651Gly)
c.2255A>G (p.Asp752Gly)
c.*710A>G (n.*710A>G)
c.*1697A>G (n.*1697A>G)
n.1619A>G
c.2204A>G (p.Asp735Gly)
c.2363A>G (p.Asp788Gly)
c.1966A>G
c.1545A>G
c.682A>G (p.Ile228Val)
c.2060A>G (p.Asp687Gly)
Xg.53985102T>GCA413252670PHF8c.1952A>C (p.Asp651Ala)
c.2255A>C (p.Asp752Ala)
c.*710A>C (n.*710A>C)
c.*1697A>C (n.*1697A>C)
n.1619A>C
c.2204A>C (p.Asp735Ala)
c.2363A>C (p.Asp788Ala)
c.1966A>C
c.1545A>C
c.682A>C (p.Ile228Leu)
c.2060A>C (p.Asp687Ala)
Xg.53985103C>ACA413252678PHF8c.1951G>T (p.Asp651Tyr)
c.2254G>T (p.Asp752Tyr)
c.*709G>T (n.*709G>T)
c.*1696G>T (n.*1696G>T)
n.1618G>T
c.2203G>T (p.Asp735Tyr)
c.2362G>T (p.Asp788Tyr)
c.1965G>T
c.1544G>T
c.681G>T (p.Arg227Ser)
c.2059G>T (p.Asp687Tyr)
Xg.53985103C>GCA413252676PHF8c.1951G>C (p.Asp651His)
c.2254G>C (p.Asp752His)
c.*709G>C (n.*709G>C)
c.*1696G>C (n.*1696G>C)
n.1618G>C
c.2203G>C (p.Asp735His)
c.2362G>C (p.Asp788His)
c.1965G>C
c.1544G>C
c.681G>C (p.Arg227Ser)
c.2059G>C (p.Asp687His)
Xg.53985103C>TCA413252673PHF8c.1951G>A (p.Asp651Asn)
c.2254G>A (p.Asp752Asn)
c.*709G>A (n.*709G>A)
c.*1696G>A (n.*1696G>A)
n.1618G>A
c.2203G>A (p.Asp735Asn)
c.2362G>A (p.Asp788Asn)
c.1965G>A
c.1544G>A
c.681G>A (p.Arg227=)
c.2059G>A (p.Asp687Asn)
Xg.53985104C>ACA413252681PHF8c.1950G>T (p.Gln650His)
c.2253G>T (p.Gln751His)
c.*708G>T (n.*708G>T)
c.*1695G>T (n.*1695G>T)
n.1617G>T
c.2202G>T (p.Gln734His)
c.2361G>T (p.Gln787His)
c.1964G>T
c.1543G>T
c.680G>T (p.Arg227Met)
c.2058G>T (p.Gln686His)
Xg.53985104C>GCA413252683PHF8c.1950G>C (p.Gln650His)
c.2253G>C (p.Gln751His)
c.*708G>C (n.*708G>C)
c.*1695G>C (n.*1695G>C)
n.1617G>C
c.2202G>C (p.Gln734His)
c.2361G>C (p.Gln787His)
c.1964G>C
c.1543G>C
c.680G>C (p.Arg227Thr)
c.2058G>C (p.Gln686His)
Xg.53985104C>TCA413252686PHF8c.1950G>A (p.Gln650=)
c.2253G>A (p.Gln751=)
c.*708G>A (n.*708G>A)
c.*1695G>A (n.*1695G>A)
n.1617G>A
c.2202G>A (p.Gln734=)
c.2361G>A (p.Gln787=)
c.1964G>A
c.1543G>A
c.680G>A (p.Arg227Lys)
c.2058G>A (p.Gln686=)
Xg.53985105T>ACA413252689PHF8c.1949A>T (p.Gln650Leu)
c.2252A>T (p.Gln751Leu)
c.*707A>T (n.*707A>T)
c.*1694A>T (n.*1694A>T)
n.1616A>T
c.2201A>T (p.Gln734Leu)
c.2360A>T (p.Gln787Leu)
c.1963A>T
c.1542A>T
c.679A>T (p.Arg227Trp)
c.2057A>T (p.Gln686Leu)
Xg.53985105T>CCA413252691PHF8c.1949A>G (p.Gln650Arg)
c.2252A>G (p.Gln751Arg)
c.*707A>G (n.*707A>G)
c.*1694A>G (n.*1694A>G)
n.1616A>G
c.2201A>G (p.Gln734Arg)
c.2360A>G (p.Gln787Arg)
c.1963A>G
c.1542A>G
c.679A>G (p.Arg227Gly)
c.2057A>G (p.Gln686Arg)
 gnomAD v4
Xg.53985105T>GCA413252694PHF8c.1949A>C (p.Gln650Pro)
c.2252A>C (p.Gln751Pro)
c.*707A>C (n.*707A>C)
c.*1694A>C (n.*1694A>C)
n.1616A>C
c.2201A>C (p.Gln734Pro)
c.2360A>C (p.Gln787Pro)
c.1963A>C
c.1542A>C
c.679A>C (p.Arg227=)
c.2057A>C (p.Gln686Pro)
Xg.53985106G>ACA413252697PHF8c.1948C>T (p.Gln650Ter)
c.2251C>T (p.Gln751Ter)
c.*706C>T (n.*706C>T)
c.*1693C>T (n.*1693C>T)
n.1615C>T
c.2200C>T (p.Gln734Ter)
c.2359C>T (p.Gln787Ter)
c.1962C>T
c.1541C>T
c.678C>T (p.Asp226=)
c.2056C>T (p.Gln686Ter)
Xg.53985106G>CCA413252699PHF8c.1948C>G (p.Gln650Glu)
c.2251C>G (p.Gln751Glu)
c.*706C>G (n.*706C>G)
c.*1693C>G (n.*1693C>G)
n.1615C>G
c.2200C>G (p.Gln734Glu)
c.2359C>G (p.Gln787Glu)
c.1962C>G
c.1541C>G
c.678C>G (p.Asp226Glu)
c.2056C>G (p.Gln686Glu)
Xg.53985106G>TCA413252701PHF8c.1948C>A (p.Gln650Lys)
c.2251C>A (p.Gln751Lys)
c.*706C>A (n.*706C>A)
c.*1693C>A (n.*1693C>A)
n.1615C>A
c.2200C>A (p.Gln734Lys)
c.2359C>A (p.Gln787Lys)
c.1962C>A
c.1541C>A
c.678C>A (p.Asp226Glu)
c.2056C>A (p.Gln686Lys)
Xg.53985107T>ACA413252704PHF8c.1947A>T (p.Gly649=)
c.2250A>T (p.Gly750=)
c.*705A>T (n.*705A>T)
c.*1692A>T (n.*1692A>T)
n.1614A>T
c.2199A>T (p.Gly733=)
c.2358A>T (p.Gly786=)
c.1961A>T
c.1540A>T
c.677A>T (p.Asp226Val)
c.2055A>T (p.Gly685=)
Xg.53985107T>CCA413252706PHF8c.1947A>G (p.Gly649=)
c.2250A>G (p.Gly750=)
c.*705A>G (n.*705A>G)
c.*1692A>G (n.*1692A>G)
n.1614A>G
c.2199A>G (p.Gly733=)
c.2358A>G (p.Gly786=)
c.1961A>G
c.1540A>G
c.677A>G (p.Asp226Gly)
c.2055A>G (p.Gly685=)
Xg.53985107T>GCA413252708PHF8c.1947A>C (p.Gly649=)
c.2250A>C (p.Gly750=)
c.*705A>C (n.*705A>C)
c.*1692A>C (n.*1692A>C)
n.1614A>C
c.2199A>C (p.Gly733=)
c.2358A>C (p.Gly786=)
c.1961A>C
c.1540A>C
c.677A>C (p.Asp226Ala)
c.2055A>C (p.Gly685=)
Xg.53985108C>ACA413252711PHF8c.1946G>T (p.Gly649Val)
c.2249G>T (p.Gly750Val)
c.*704G>T (n.*704G>T)
c.*1691G>T (n.*1691G>T)
n.1613G>T
c.2198G>T (p.Gly733Val)
c.2357G>T (p.Gly786Val)
c.1960G>T
c.1539G>T
c.676G>T (p.Asp226Tyr)
c.2054G>T (p.Gly685Val)
Xg.53985108C>GCA413252716PHF8c.1946G>C (p.Gly649Ala)
c.2249G>C (p.Gly750Ala)
c.*704G>C (n.*704G>C)
c.*1691G>C (n.*1691G>C)
n.1613G>C
c.2198G>C (p.Gly733Ala)
c.2357G>C (p.Gly786Ala)
c.1960G>C
c.1539G>C
c.676G>C (p.Asp226His)
c.2054G>C (p.Gly685Ala)
Xg.53985108C>TCA413252714PHF8c.1946G>A (p.Gly649Glu)
c.2249G>A (p.Gly750Glu)
c.*704G>A (n.*704G>A)
c.*1691G>A (n.*1691G>A)
n.1613G>A
c.2198G>A (p.Gly733Glu)
c.2357G>A (p.Gly786Glu)
c.1960G>A
c.1539G>A
c.676G>A (p.Asp226Asn)
c.2054G>A (p.Gly685Glu)
Xg.53985109C>ACA413252719PHF8c.1945G>T (p.Gly649Ter)
c.2248G>T (p.Gly750Ter)
c.*703G>T (n.*703G>T)
c.*1690G>T (n.*1690G>T)
n.1612G>T
c.2197G>T (p.Gly733Ter)
c.2356G>T (p.Gly786Ter)
c.1959G>T
c.1538G>T
c.675G>T (p.Gly225=)
c.2053G>T (p.Gly685Ter)
Xg.53985109C>GCA413252723PHF8c.1945G>C (p.Gly649Arg)
c.2248G>C (p.Gly750Arg)
c.*703G>C (n.*703G>C)
c.*1690G>C (n.*1690G>C)
n.1612G>C
c.2197G>C (p.Gly733Arg)
c.2356G>C (p.Gly786Arg)
c.1959G>C
c.1538G>C
c.675G>C (p.Gly225=)
c.2053G>C (p.Gly685Arg)
Xg.53985109C>TCA413252721PHF8c.1945G>A (p.Gly649Arg)
c.2248G>A (p.Gly750Arg)
c.*703G>A (n.*703G>A)
c.*1690G>A (n.*1690G>A)
n.1612G>A
c.2197G>A (p.Gly733Arg)
c.2356G>A (p.Gly786Arg)
c.1959G>A
c.1538G>A
c.675G>A (p.Gly225=)
c.2053G>A (p.Gly685Arg)
 gnomAD v4
Xg.53985110C>ACA413252727PHF8c.1944G>T (p.Gly648=)
c.2247G>T (p.Gly749=)
c.*702G>T (n.*702G>T)
c.*1689G>T (n.*1689G>T)
n.1611G>T
c.2196G>T (p.Gly732=)
c.2355G>T (p.Gly785=)
c.1958G>T
c.1537G>T
c.674G>T (p.Gly225Val)
c.2052G>T (p.Gly684=)
Xg.53985110C=CA2430030694PHF8c.1944G= (p.Gly648=)
c.2247G= (p.Gly749=)
c.*702G= (n.*702G=)
c.*1689G= (n.*1689G=)
n.1611G=
c.2196G= (p.Gly732=)
c.2355G= (p.Gly785=)
c.1958G=
c.1537G=
c.674G= (p.Gly225=)
c.2052G= (p.Gly684=)
Xg.53985110C>GCA413252729PHF8c.1944G>C (p.Gly648=)
c.2247G>C (p.Gly749=)
c.*702G>C (n.*702G>C)
c.*1689G>C (n.*1689G>C)
n.1611G>C
c.2196G>C (p.Gly732=)
c.2355G>C (p.Gly785=)
c.1958G>C
c.1537G>C
c.674G>C (p.Gly225Ala)
c.2052G>C (p.Gly684=)
Xg.53985110C>TCA10423318PHF8c.1944G>A (p.Gly648=)
c.2247G>A (p.Gly749=)
c.*702G>A (n.*702G>A)
c.*1689G>A (n.*1689G>A)
n.1611G>A
c.2196G>A (p.Gly732=)
c.2355G>A (p.Gly785=)
c.1958G>A
c.1537G>A
c.674G>A (p.Gly225Glu)
c.2052G>A (p.Gly684=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
Xg.53985111C>ACA413252734PHF8c.1943G>T (p.Gly648Val)
c.2246G>T (p.Gly749Val)
c.*701G>T (n.*701G>T)
c.*1688G>T (n.*1688G>T)
n.1610G>T
c.2195G>T (p.Gly732Val)
c.2354G>T (p.Gly785Val)
c.1957G>T
c.1536G>T
c.673G>T (p.Gly225Trp)
c.2051G>T (p.Gly684Val)
Xg.53985111C>GCA413252736PHF8c.1943G>C (p.Gly648Ala)
c.2246G>C (p.Gly749Ala)
c.*701G>C (n.*701G>C)
c.*1688G>C (n.*1688G>C)
n.1610G>C
c.2195G>C (p.Gly732Ala)
c.2354G>C (p.Gly785Ala)
c.1957G>C
c.1536G>C
c.673G>C (p.Gly225Arg)
c.2051G>C (p.Gly684Ala)
 ClinVar gnomAD v4
Xg.53985111C>TCA413252739PHF8c.1943G>A (p.Gly648Glu)
c.2246G>A (p.Gly749Glu)
c.*701G>A (n.*701G>A)
c.*1688G>A (n.*1688G>A)
n.1610G>A
c.2195G>A (p.Gly732Glu)
c.2354G>A (p.Gly785Glu)
c.1957G>A
c.1536G>A
c.673G>A (p.Gly225Arg)
c.2051G>A (p.Gly684Glu)
Xg.53985112C>ACA413252747PHF8c.1942G>T (p.Gly648Trp)
c.2245G>T (p.Gly749Trp)
c.*700G>T (n.*700G>T)
c.*1687G>T (n.*1687G>T)
n.1609G>T
c.2194G>T (p.Gly732Trp)
c.2353G>T (p.Gly785Trp)
c.1956G>T
c.1535G>T
c.672G>T (p.Leu224=)
c.2050G>T (p.Gly684Trp)
 gnomAD v4
Xg.53985112C=CA2430030695PHF8c.1942G= (p.Gly648=)
c.2245G= (p.Gly749=)
c.*700G= (n.*700G=)
c.*1687G= (n.*1687G=)
n.1609G=
c.2194G= (p.Gly732=)
c.2353G= (p.Gly785=)
c.1956G=
c.1535G=
c.672G= (p.Leu224=)
c.2050G= (p.Gly684=)
Xg.53985112C>GCA413252745PHF8c.1942G>C (p.Gly648Arg)
c.2245G>C (p.Gly749Arg)
c.*700G>C (n.*700G>C)
c.*1687G>C (n.*1687G>C)
n.1609G>C
c.2194G>C (p.Gly732Arg)
c.2353G>C (p.Gly785Arg)
c.1956G>C
c.1535G>C
c.672G>C (p.Leu224=)
c.2050G>C (p.Gly684Arg)
Xg.53985112C>TCA413252742PHF8c.1942G>A (p.Gly648Arg)
c.2245G>A (p.Gly749Arg)
c.*700G>A (n.*700G>A)
c.*1687G>A (n.*1687G>A)
n.1609G>A
c.2194G>A (p.Gly732Arg)
c.2353G>A (p.Gly785Arg)
c.1956G>A
c.1535G>A
c.672G>A (p.Leu224=)
c.2050G>A (p.Gly684Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53985113A>CCA413252750PHF8c.1941T>G (p.Thr647=)
c.2244T>G (p.Thr748=)
c.*699T>G (n.*699T>G)
c.*1686T>G (n.*1686T>G)
n.1608T>G
c.2193T>G (p.Thr731=)
c.2352T>G (p.Thr784=)
c.1955T>G
c.1534T>G
c.671T>G (p.Leu224Arg)
c.2049T>G (p.Thr683=)
Xg.53985113A>GCA413252751PHF8c.1941T>C (p.Thr647=)
c.2244T>C (p.Thr748=)
c.*699T>C (n.*699T>C)
c.*1686T>C (n.*1686T>C)
n.1608T>C
c.2193T>C (p.Thr731=)
c.2352T>C (p.Thr784=)
c.1955T>C
c.1534T>C
c.671T>C (p.Leu224Pro)
c.2049T>C (p.Thr683=)
Xg.53985113A>TCA413252754PHF8c.1941T>A (p.Thr647=)
c.2244T>A (p.Thr748=)
c.*699T>A (n.*699T>A)
c.*1686T>A (n.*1686T>A)
n.1608T>A
c.2193T>A (p.Thr731=)
c.2352T>A (p.Thr784=)
c.1955T>A
c.1534T>A
c.671T>A (p.Leu224Gln)
c.2049T>A (p.Thr683=)
Xg.53985114G>ACA413252757PHF8c.1940C>T (p.Thr647Ile)
c.2243C>T (p.Thr748Ile)
c.*698C>T (n.*698C>T)
c.*1685C>T (n.*1685C>T)
n.1607C>T
c.2192C>T (p.Thr731Ile)
c.2351C>T (p.Thr784Ile)
c.1954C>T
c.1533C>T
c.670C>T (p.Leu224=)
c.2048C>T (p.Thr683Ile)
 dbSNP gnomAD v2 gnomAD v4
Xg.53985114G>CCA413252759PHF8c.1940C>G (p.Thr647Ser)
c.2243C>G (p.Thr748Ser)
c.*698C>G (n.*698C>G)
c.*1685C>G (n.*1685C>G)
n.1607C>G
c.2192C>G (p.Thr731Ser)
c.2351C>G (p.Thr784Ser)
c.1954C>G
c.1533C>G
c.670C>G (p.Leu224Val)
c.2048C>G (p.Thr683Ser)
Xg.53985114G=CA2430030696PHF8c.1940C= (p.Thr647=)
c.2243C= (p.Thr748=)
c.*698C= (n.*698C=)
c.*1685C= (n.*1685C=)
n.1607C=
c.2192C= (p.Thr731=)
c.2351C= (p.Thr784=)
c.1954C=
c.1533C=
c.670C= (p.Leu224=)
c.2048C= (p.Thr683=)
Xg.53985114G>TCA413252762PHF8c.1940C>A (p.Thr647Asn)
c.2243C>A (p.Thr748Asn)
c.*698C>A (n.*698C>A)
c.*1685C>A (n.*1685C>A)
n.1607C>A
c.2192C>A (p.Thr731Asn)
c.2351C>A (p.Thr784Asn)
c.1954C>A
c.1533C>A
c.670C>A (p.Leu224Met)
c.2048C>A (p.Thr683Asn)
Xg.53985115T>ACA413252764PHF8c.1939A>T (p.Thr647Ser)
c.2242A>T (p.Thr748Ser)
c.*697A>T (n.*697A>T)
c.*1684A>T (n.*1684A>T)
n.1606A>T
c.2191A>T (p.Thr731Ser)
c.2350A>T (p.Thr784Ser)
c.1953A>T
c.1532A>T
c.669A>T (p.Gly223=)
c.2047A>T (p.Thr683Ser)
Xg.53985115T>CCA413252768PHF8c.1939A>G (p.Thr647Ala)
c.2242A>G (p.Thr748Ala)
c.*697A>G (n.*697A>G)
c.*1684A>G (n.*1684A>G)
n.1606A>G
c.2191A>G (p.Thr731Ala)
c.2350A>G (p.Thr784Ala)
c.1953A>G
c.1532A>G
c.669A>G (p.Gly223=)
c.2047A>G (p.Thr683Ala)
Xg.53985115T>GCA413252766PHF8c.1939A>C (p.Thr647Pro)
c.2242A>C (p.Thr748Pro)
c.*697A>C (n.*697A>C)
c.*1684A>C (n.*1684A>C)
n.1606A>C
c.2191A>C (p.Thr731Pro)
c.2350A>C (p.Thr784Pro)
c.1953A>C
c.1532A>C
c.669A>C (p.Gly223=)
c.2047A>C (p.Thr683Pro)
Xg.53985116C>ACA413252771PHF8c.1938G>T (p.Trp646Cys)
c.2241G>T (p.Trp747Cys)
c.*696G>T (n.*696G>T)
c.*1683G>T (n.*1683G>T)
n.1605G>T
c.2190G>T (p.Trp730Cys)
c.2349G>T (p.Trp783Cys)
c.1952G>T
c.1531G>T
c.668G>T (p.Gly223Val)
c.2046G>T (p.Trp682Cys)
 gnomAD v4
Xg.53985116C>GCA413252773PHF8c.1938G>C (p.Trp646Cys)
c.2241G>C (p.Trp747Cys)
c.*696G>C (n.*696G>C)
c.*1683G>C (n.*1683G>C)
n.1605G>C
c.2190G>C (p.Trp730Cys)
c.2349G>C (p.Trp783Cys)
c.1952G>C
c.1531G>C
c.668G>C (p.Gly223Ala)
c.2046G>C (p.Trp682Cys)
Xg.53985116C>TCA413252775PHF8c.1938G>A (p.Trp646Ter)
c.2241G>A (p.Trp747Ter)
c.*696G>A (n.*696G>A)
c.*1683G>A (n.*1683G>A)
n.1605G>A
c.2190G>A (p.Trp730Ter)
c.2349G>A (p.Trp783Ter)
c.1952G>A
c.1531G>A
c.668G>A (p.Gly223Glu)
c.2046G>A (p.Trp682Ter)
Xg.53985117C>ACA413252778PHF8c.1937G>T (p.Trp646Leu)
c.2240G>T (p.Trp747Leu)
c.*695G>T (n.*695G>T)
c.*1682G>T (n.*1682G>T)
n.1604G>T
c.2189G>T (p.Trp730Leu)
c.2348G>T (p.Trp783Leu)
c.1951G>T
c.1530G>T
c.667G>T (p.Gly223Ter)
c.2045G>T (p.Trp682Leu)
Xg.53985117C>GCA413252779PHF8c.1937G>C (p.Trp646Ser)
c.2240G>C (p.Trp747Ser)
c.*695G>C (n.*695G>C)
c.*1682G>C (n.*1682G>C)
n.1604G>C
c.2189G>C (p.Trp730Ser)
c.2348G>C (p.Trp783Ser)
c.1951G>C
c.1530G>C
c.667G>C (p.Gly223Arg)
c.2045G>C (p.Trp682Ser)
Xg.53985117C>TCA413252782PHF8c.1937G>A (p.Trp646Ter)
c.2240G>A (p.Trp747Ter)
c.*695G>A (n.*695G>A)
c.*1682G>A (n.*1682G>A)
n.1604G>A
c.2189G>A (p.Trp730Ter)
c.2348G>A (p.Trp783Ter)
c.1951G>A
c.1530G>A
c.667G>A (p.Gly223Arg)
c.2045G>A (p.Trp682Ter)
Xg.53985118A>CCA413252785PHF8c.1936T>G (p.Trp646Gly)
c.2239T>G (p.Trp747Gly)
c.*694T>G (n.*694T>G)
c.*1681T>G (n.*1681T>G)
n.1603T>G
c.2188T>G (p.Trp730Gly)
c.2347T>G (p.Trp783Gly)
c.1950T>G
c.1529T>G
c.666T>G (p.Gly222=)
c.2044T>G (p.Trp682Gly)
Xg.53985118A>GCA413252787PHF8c.1936T>C (p.Trp646Arg)
c.2239T>C (p.Trp747Arg)
c.*694T>C (n.*694T>C)
c.*1681T>C (n.*1681T>C)
n.1603T>C
c.2188T>C (p.Trp730Arg)
c.2347T>C (p.Trp783Arg)
c.1950T>C
c.1529T>C
c.666T>C (p.Gly222=)
c.2044T>C (p.Trp682Arg)
Xg.53985118A>TCA413252789PHF8c.1936T>A (p.Trp646Arg)
c.2239T>A (p.Trp747Arg)
c.*694T>A (n.*694T>A)
c.*1681T>A (n.*1681T>A)
n.1603T>A
c.2188T>A (p.Trp730Arg)
c.2347T>A (p.Trp783Arg)
c.1950T>A
c.1529T>A
c.666T>A (p.Gly222=)
c.2044T>A (p.Trp682Arg)
Xg.53985119C>ACA413252791PHF8c.1935G>T (p.Trp645Cys)
c.2238G>T (p.Trp746Cys)
c.*693G>T (n.*693G>T)
c.*1680G>T (n.*1680G>T)
n.1602G>T
c.2187G>T (p.Trp729Cys)
c.2346G>T (p.Trp782Cys)
c.1949G>T
c.1528G>T
c.665G>T (p.Gly222Val)
c.2043G>T (p.Trp681Cys)
Xg.53985119C>GCA413252793PHF8c.1935G>C (p.Trp645Cys)
c.2238G>C (p.Trp746Cys)
c.*693G>C (n.*693G>C)
c.*1680G>C (n.*1680G>C)
n.1602G>C
c.2187G>C (p.Trp729Cys)
c.2346G>C (p.Trp782Cys)
c.1949G>C
c.1528G>C
c.665G>C (p.Gly222Ala)
c.2043G>C (p.Trp681Cys)
 gnomAD v4
Xg.53985119C>TCA413252795PHF8c.1935G>A (p.Trp645Ter)
c.2238G>A (p.Trp746Ter)
c.*693G>A (n.*693G>A)
c.*1680G>A (n.*1680G>A)
n.1602G>A
c.2187G>A (p.Trp729Ter)
c.2346G>A (p.Trp782Ter)
c.1949G>A
c.1528G>A
c.665G>A (p.Gly222Asp)
c.2043G>A (p.Trp681Ter)
Xg.53985120C>ACA413252797PHF8c.1934G>T (p.Trp645Leu)
c.2237G>T (p.Trp746Leu)
c.*692G>T (n.*692G>T)
c.*1679G>T (n.*1679G>T)
n.1601G>T
c.2186G>T (p.Trp729Leu)
c.2345G>T (p.Trp782Leu)
c.1948G>T
c.1527G>T
c.664G>T (p.Gly222Cys)
c.2042G>T (p.Trp681Leu)
 gnomAD v4
Xg.53985120C>GCA413252801PHF8c.1934G>C (p.Trp645Ser)
c.2237G>C (p.Trp746Ser)
c.*692G>C (n.*692G>C)
c.*1679G>C (n.*1679G>C)
n.1601G>C
c.2186G>C (p.Trp729Ser)
c.2345G>C (p.Trp782Ser)
c.1948G>C
c.1527G>C
c.664G>C (p.Gly222Arg)
c.2042G>C (p.Trp681Ser)
Xg.53985120C>TCA413252800PHF8c.1934G>A (p.Trp645Ter)
c.2237G>A (p.Trp746Ter)
c.*692G>A (n.*692G>A)
c.*1679G>A (n.*1679G>A)
n.1601G>A
c.2186G>A (p.Trp729Ter)
c.2345G>A (p.Trp782Ter)
c.1948G>A
c.1527G>A
c.664G>A (p.Gly222Ser)
c.2042G>A (p.Trp681Ter)
Xg.53985121A>CCA413252805PHF8c.1933T>G (p.Trp645Gly)
c.2236T>G (p.Trp746Gly)
c.*691T>G (n.*691T>G)
c.*1678T>G (n.*1678T>G)
n.1600T>G
c.2185T>G (p.Trp729Gly)
c.2344T>G (p.Trp782Gly)
c.1947T>G
c.1526T>G
c.663T>G (p.Pro221=)
c.2041T>G (p.Trp681Gly)
Xg.53985121A>GCA413252807PHF8c.1933T>C (p.Trp645Arg)
c.2236T>C (p.Trp746Arg)
c.*691T>C (n.*691T>C)
c.*1678T>C (n.*1678T>C)
n.1600T>C
c.2185T>C (p.Trp729Arg)
c.2344T>C (p.Trp782Arg)
c.1947T>C
c.1526T>C
c.663T>C (p.Pro221=)
c.2041T>C (p.Trp681Arg)
Xg.53985121A>TCA413252812PHF8c.1933T>A (p.Trp645Arg)
c.2236T>A (p.Trp746Arg)
c.*691T>A (n.*691T>A)
c.*1678T>A (n.*1678T>A)
n.1600T>A
c.2185T>A (p.Trp729Arg)
c.2344T>A (p.Trp782Arg)
c.1947T>A
c.1526T>A
c.663T>A (p.Pro221=)
c.2041T>A (p.Trp681Arg)
Xg.53985122G>ACA413252816PHF8c.1932C>T (p.Ala644=)
c.2235C>T (p.Ala745=)
c.*690C>T (n.*690C>T)
c.*1677C>T (n.*1677C>T)
n.1599C>T
c.2184C>T (p.Ala728=)
c.2343C>T (p.Ala781=)
c.1946C>T
c.1525C>T
c.662C>T (p.Pro221Leu)
c.2040C>T (p.Ala680=)
 gnomAD v4
Xg.53985122G>CCA413252818PHF8c.1932C>G (p.Ala644=)
c.2235C>G (p.Ala745=)
c.*690C>G (n.*690C>G)
c.*1677C>G (n.*1677C>G)
n.1599C>G
c.2184C>G (p.Ala728=)
c.2343C>G (p.Ala781=)
c.1946C>G
c.1525C>G
c.662C>G (p.Pro221Arg)
c.2040C>G (p.Ala680=)
Xg.53985122G>TCA413252820PHF8c.1932C>A (p.Ala644=)
c.2235C>A (p.Ala745=)
c.*690C>A (n.*690C>A)
c.*1677C>A (n.*1677C>A)
n.1599C>A
c.2184C>A (p.Ala728=)
c.2343C>A (p.Ala781=)
c.1946C>A
c.1525C>A
c.662C>A (p.Pro221His)
c.2040C>A (p.Ala680=)
Xg.53985123G>ACA413252823PHF8c.1931C>T (p.Ala644Val)
c.2234C>T (p.Ala745Val)
c.*689C>T (n.*689C>T)
c.*1676C>T (n.*1676C>T)
n.1598C>T
c.2183C>T (p.Ala728Val)
c.2342C>T (p.Ala781Val)
c.1945C>T
c.1524C>T
c.661C>T (p.Pro221Ser)
c.2039C>T (p.Ala680Val)
 ClinVar dbSNP gnomAD v4
Xg.53985123G>CCA413252825PHF8c.1931C>G (p.Ala644Gly)
c.2234C>G (p.Ala745Gly)
c.*689C>G (n.*689C>G)
c.*1676C>G (n.*1676C>G)
n.1598C>G
c.2183C>G (p.Ala728Gly)
c.2342C>G (p.Ala781Gly)
c.1945C>G
c.1524C>G
c.661C>G (p.Pro221Ala)
c.2039C>G (p.Ala680Gly)
Xg.53985123G=CA2430030697PHF8c.1931C= (p.Ala644=)
c.2234C= (p.Ala745=)
c.*689C= (n.*689C=)
c.*1676C= (n.*1676C=)
n.1598C=
c.2183C= (p.Ala728=)
c.2342C= (p.Ala781=)
c.1945C=
c.1524C=
c.661C= (p.Pro221=)
c.2039C= (p.Ala680=)
Xg.53985123G>TCA413252827PHF8c.1931C>A (p.Ala644Asp)
c.2234C>A (p.Ala745Asp)
c.*689C>A (n.*689C>A)
c.*1676C>A (n.*1676C>A)
n.1598C>A
c.2183C>A (p.Ala728Asp)
c.2342C>A (p.Ala781Asp)
c.1945C>A
c.1524C>A
c.661C>A (p.Pro221Thr)
c.2039C>A (p.Ala680Asp)
Xg.53985124C>ACA413252830PHF8c.1930G>T (p.Ala644Ser)
c.2233G>T (p.Ala745Ser)
c.*688G>T (n.*688G>T)
c.*1675G>T (n.*1675G>T)
n.1597G>T
c.2182G>T (p.Ala728Ser)
c.2341G>T (p.Ala781Ser)
c.1944G>T
c.1523G>T
c.660G>T (p.Arg220Ser)
c.2038G>T (p.Ala680Ser)
Xg.53985124C>GCA413252832PHF8c.1930G>C (p.Ala644Pro)
c.2233G>C (p.Ala745Pro)
c.*688G>C (n.*688G>C)
c.*1675G>C (n.*1675G>C)
n.1597G>C
c.2182G>C (p.Ala728Pro)
c.2341G>C (p.Ala781Pro)
c.1944G>C
c.1523G>C
c.660G>C (p.Arg220Ser)
c.2038G>C (p.Ala680Pro)
Xg.53985124C>TCA413252835PHF8c.1930G>A (p.Ala644Thr)
c.2233G>A (p.Ala745Thr)
c.*688G>A (n.*688G>A)
c.*1675G>A (n.*1675G>A)
n.1597G>A
c.2182G>A (p.Ala728Thr)
c.2341G>A (p.Ala781Thr)
c.1944G>A
c.1523G>A
c.660G>A (p.Arg220=)
c.2038G>A (p.Ala680Thr)
Xg.53985125C>ACA413252838PHF8c.1929G>T (p.Gln643His)
c.2232G>T (p.Gln744His)
c.*687G>T (n.*687G>T)
c.*1674G>T (n.*1674G>T)
n.1596G>T
c.2181G>T (p.Gln727His)
c.2340G>T (p.Gln780His)
c.1943G>T
c.1522G>T
c.659G>T (p.Arg220Met)
c.2037G>T (p.Gln679His)
Xg.53985125C>GCA413252836PHF8c.1929G>C (p.Gln643His)
c.2232G>C (p.Gln744His)
c.*687G>C (n.*687G>C)
c.*1674G>C (n.*1674G>C)
n.1596G>C
c.2181G>C (p.Gln727His)
c.2340G>C (p.Gln780His)
c.1943G>C
c.1522G>C
c.659G>C (p.Arg220Thr)
c.2037G>C (p.Gln679His)
Xg.53985125C>TCA413252837PHF8c.1929G>A (p.Gln643=)
c.2232G>A (p.Gln744=)
c.*687G>A (n.*687G>A)
c.*1674G>A (n.*1674G>A)
n.1596G>A
c.2181G>A (p.Gln727=)
c.2340G>A (p.Gln780=)
c.1943G>A
c.1522G>A
c.659G>A (p.Arg220Lys)
c.2037G>A (p.Gln679=)
Xg.53985126T>ACA413252840PHF8c.1928A>T (p.Gln643Leu)
c.2231A>T (p.Gln744Leu)
c.*686A>T (n.*686A>T)
c.*1673A>T (n.*1673A>T)
n.1595A>T
c.2180A>T (p.Gln727Leu)
c.2339A>T (p.Gln780Leu)
c.1942A>T
c.1521A>T
c.658A>T (p.Arg220Trp)
c.2036A>T (p.Gln679Leu)
Xg.53985126T>CCA413252842PHF8c.1928A>G (p.Gln643Arg)
c.2231A>G (p.Gln744Arg)
c.*686A>G (n.*686A>G)
c.*1673A>G (n.*1673A>G)
n.1595A>G
c.2180A>G (p.Gln727Arg)
c.2339A>G (p.Gln780Arg)
c.1942A>G
c.1521A>G
c.658A>G (p.Arg220Gly)
c.2036A>G (p.Gln679Arg)
Xg.53985126T>GCA413252843PHF8c.1928A>C (p.Gln643Pro)
c.2231A>C (p.Gln744Pro)
c.*686A>C (n.*686A>C)
c.*1673A>C (n.*1673A>C)
n.1595A>C
c.2180A>C (p.Gln727Pro)
c.2339A>C (p.Gln780Pro)
c.1942A>C
c.1521A>C
c.658A>C (p.Arg220=)
c.2036A>C (p.Gln679Pro)
Xg.53985127G>ACA413252845PHF8c.1927C>T (p.Gln643Ter)
c.2230C>T (p.Gln744Ter)
c.*685C>T (n.*685C>T)
c.*1672C>T (n.*1672C>T)
n.1594C>T
c.2179C>T (p.Gln727Ter)
c.2338C>T (p.Gln780Ter)
c.1941C>T
c.1520C>T
c.657C>T (p.Cys219=)
c.2035C>T (p.Gln679Ter)
Xg.53985127G>CCA413252846PHF8c.1927C>G (p.Gln643Glu)
c.2230C>G (p.Gln744Glu)
c.*685C>G (n.*685C>G)
c.*1672C>G (n.*1672C>G)
n.1594C>G
c.2179C>G (p.Gln727Glu)
c.2338C>G (p.Gln780Glu)
c.1941C>G
c.1520C>G
c.657C>G (p.Cys219Trp)
c.2035C>G (p.Gln679Glu)
Xg.53985127G>TCA413252847PHF8c.1927C>A (p.Gln643Lys)
c.2230C>A (p.Gln744Lys)
c.*685C>A (n.*685C>A)
c.*1672C>A (n.*1672C>A)
n.1594C>A
c.2179C>A (p.Gln727Lys)
c.2338C>A (p.Gln780Lys)
c.1941C>A
c.1520C>A
c.657C>A (p.Cys219Ter)
c.2035C>A (p.Gln679Lys)
Xg.53985128C>ACA413252850PHF8c.1926G>T (p.Leu642=)
c.2229G>T (p.Leu743=)
c.*684G>T (n.*684G>T)
c.*1671G>T (n.*1671G>T)
n.1593G>T
c.2178G>T (p.Leu726=)
c.2337G>T (p.Leu779=)
c.1940G>T
c.1519G>T
c.656G>T (p.Cys219Phe)
c.2034G>T (p.Leu678=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53985128C=CA2430030698PHF8c.1926G= (p.Leu642=)
c.2229G= (p.Leu743=)
c.*684G= (n.*684G=)
c.*1671G= (n.*1671G=)
n.1593G=
c.2178G= (p.Leu726=)
c.2337G= (p.Leu779=)
c.1940G=
c.1519G=
c.656G= (p.Cys219=)
c.2034G= (p.Leu678=)
Xg.53985128C>GCA413252853PHF8c.1926G>C (p.Leu642=)
c.2229G>C (p.Leu743=)
c.*684G>C (n.*684G>C)
c.*1671G>C (n.*1671G>C)
n.1593G>C
c.2178G>C (p.Leu726=)
c.2337G>C (p.Leu779=)
c.1940G>C
c.1519G>C
c.656G>C (p.Cys219Ser)
c.2034G>C (p.Leu678=)
Xg.53985128C>TCA413252855PHF8c.1926G>A (p.Leu642=)
c.2229G>A (p.Leu743=)
c.*684G>A (n.*684G>A)
c.*1671G>A (n.*1671G>A)
n.1593G>A
c.2178G>A (p.Leu726=)
c.2337G>A (p.Leu779=)
c.1940G>A
c.1519G>A
c.656G>A (p.Cys219Tyr)
c.2034G>A (p.Leu678=)
 gnomAD v4
Xg.53985129A>CCA413252858PHF8c.1925T>G (p.Leu642Arg)
c.2228T>G (p.Leu743Arg)
c.*683T>G (n.*683T>G)
c.*1670T>G (n.*1670T>G)
n.1592T>G
c.2177T>G (p.Leu726Arg)
c.2336T>G (p.Leu779Arg)
c.1939T>G
c.1518T>G
c.655T>G (p.Cys219Gly)
c.2033T>G (p.Leu678Arg)
Xg.53985129A>GCA413252860PHF8c.1925T>C (p.Leu642Pro)
c.2228T>C (p.Leu743Pro)
c.*683T>C (n.*683T>C)
c.*1670T>C (n.*1670T>C)
n.1592T>C
c.2177T>C (p.Leu726Pro)
c.2336T>C (p.Leu779Pro)
c.1939T>C
c.1518T>C
c.655T>C (p.Cys219Arg)
c.2033T>C (p.Leu678Pro)
Xg.53985129A>TCA413252862PHF8c.1925T>A (p.Leu642Gln)
c.2228T>A (p.Leu743Gln)
c.*683T>A (n.*683T>A)
c.*1670T>A (n.*1670T>A)
n.1592T>A
c.2177T>A (p.Leu726Gln)
c.2336T>A (p.Leu779Gln)
c.1939T>A
c.1518T>A
c.655T>A (p.Cys219Ser)
c.2033T>A (p.Leu678Gln)
Xg.53985130G>ACA329924352PHF8c.1924C>T (p.Leu642=)
c.2227C>T (p.Leu743=)
c.*682C>T (n.*682C>T)
c.*1669C>T (n.*1669C>T)
n.1591C>T
c.2176C>T (p.Leu726=)
c.2335C>T (p.Leu779=)
c.1938C>T
c.1517C>T
c.654C>T (p.Ala218=)
c.2032C>T (p.Leu678=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53985130G>CCA413252864PHF8c.1924C>G (p.Leu642Val)
c.2227C>G (p.Leu743Val)
c.*682C>G (n.*682C>G)
c.*1669C>G (n.*1669C>G)
n.1591C>G
c.2176C>G (p.Leu726Val)
c.2335C>G (p.Leu779Val)
c.1938C>G
c.1517C>G
c.654C>G (p.Ala218=)
c.2032C>G (p.Leu678Val)
Xg.53985130G=CA2430030699PHF8c.1924C= (p.Leu642=)
c.2227C= (p.Leu743=)
c.*682C= (n.*682C=)
c.*1669C= (n.*1669C=)
n.1591C=
c.2176C= (p.Leu726=)
c.2335C= (p.Leu779=)
c.1938C=
c.1517C=
c.654C= (p.Ala218=)
c.2032C= (p.Leu678=)
Xg.53985130G>TCA413252866PHF8c.1924C>A (p.Leu642Met)
c.2227C>A (p.Leu743Met)
c.*682C>A (n.*682C>A)
c.*1669C>A (n.*1669C>A)
n.1591C>A
c.2176C>A (p.Leu726Met)
c.2335C>A (p.Leu779Met)
c.1938C>A
c.1517C>A
c.654C>A (p.Ala218=)
c.2032C>A (p.Leu678Met)
 gnomAD v4
Xg.53985131G>ACA413252869PHF8c.1923C>T (p.Ser641=)
c.2226C>T (p.Ser742=)
c.*681C>T (n.*681C>T)
c.*1668C>T (n.*1668C>T)
n.1590C>T
c.2175C>T (p.Ser725=)
c.2334C>T (p.Ser778=)
c.1937C>T
c.1516C>T
c.653C>T (p.Ala218Val)
c.2031C>T (p.Ser677=)
 COSMIC COSMIC COSMIC COSMIC
Xg.53985131G>CCA413252871PHF8c.1923C>G (p.Ser641Arg)
c.2226C>G (p.Ser742Arg)
c.*681C>G (n.*681C>G)
c.*1668C>G (n.*1668C>G)
n.1590C>G
c.2175C>G (p.Ser725Arg)
c.2334C>G (p.Ser778Arg)
c.1937C>G
c.1516C>G
c.653C>G (p.Ala218Gly)
c.2031C>G (p.Ser677Arg)
Xg.53985131G=CA2430030700PHF8c.1923C= (p.Ser641=)
c.2226C= (p.Ser742=)
c.*681C= (n.*681C=)
c.*1668C= (n.*1668C=)
n.1590C=
c.2175C= (p.Ser725=)
c.2334C= (p.Ser778=)
c.1937C=
c.1516C=
c.653C= (p.Ala218=)
c.2031C= (p.Ser677=)
Xg.53985131G>TCA413252873PHF8c.1923C>A (p.Ser641Arg)
c.2226C>A (p.Ser742Arg)
c.*681C>A (n.*681C>A)
c.*1668C>A (n.*1668C>A)
n.1590C>A
c.2175C>A (p.Ser725Arg)
c.2334C>A (p.Ser778Arg)
c.1937C>A
c.1516C>A
c.653C>A (p.Ala218Asp)
c.2031C>A (p.Ser677Arg)
Xg.53985132C>ACA413252877PHF8c.1922G>T (p.Ser641Ile)
c.2225G>T (p.Ser742Ile)
c.*680G>T (n.*680G>T)
c.*1667G>T (n.*1667G>T)
n.1589G>T
c.2174G>T (p.Ser725Ile)
c.2333G>T (p.Ser778Ile)
c.1936G>T
c.1515G>T
c.652G>T (p.Ala218Ser)
c.2030G>T (p.Ser677Ile)
Xg.53985132C>GCA413252879PHF8c.1922G>C (p.Ser641Thr)
c.2225G>C (p.Ser742Thr)
c.*680G>C (n.*680G>C)
c.*1667G>C (n.*1667G>C)
n.1589G>C
c.2174G>C (p.Ser725Thr)
c.2333G>C (p.Ser778Thr)
c.1936G>C
c.1515G>C
c.652G>C (p.Ala218Pro)
c.2030G>C (p.Ser677Thr)
Xg.53985132C>TCA413252881PHF8c.1922G>A (p.Ser641Asn)
c.2225G>A (p.Ser742Asn)
c.*680G>A (n.*680G>A)
c.*1667G>A (n.*1667G>A)
n.1589G>A
c.2174G>A (p.Ser725Asn)
c.2333G>A (p.Ser778Asn)
c.1936G>A
c.1515G>A
c.652G>A (p.Ala218Thr)
c.2030G>A (p.Ser677Asn)
Xg.53985132dupCA658799761PHF8c.1922dup (p.Ser641ArgfsTer26)
c.2225dup (p.Ser742ArgfsTer26)
c.*680dup (n.*680dup)
c.*1667dup (n.*1667dup)
n.1589dup
c.2174dup (p.Ser725ArgfsTer26)
c.2333dup (p.Ser778ArgfsTer26)
c.1936dup
c.1515dup
c.652dup (p.Ala218GlyfsTer?)
c.2030dup (p.Ser677ArgfsTer26)
 ClinVar dbSNP
Xg.53985133T>ACA413252888PHF8c.1921A>T (p.Ser641Cys)
c.2224A>T (p.Ser742Cys)
c.*679A>T (n.*679A>T)
c.*1666A>T (n.*1666A>T)
n.1588A>T
c.2173A>T (p.Ser725Cys)
c.2332A>T (p.Ser778Cys)
c.1935A>T
c.1514A>T
c.651A>T (p.Leu217=)
c.2029A>T (p.Ser677Cys)
Xg.53985133T>CCA413252886PHF8c.1921A>G (p.Ser641Gly)
c.2224A>G (p.Ser742Gly)
c.*679A>G (n.*679A>G)
c.*1666A>G (n.*1666A>G)
n.1588A>G
c.2173A>G (p.Ser725Gly)
c.2332A>G (p.Ser778Gly)
c.1935A>G
c.1514A>G
c.651A>G (p.Leu217=)
c.2029A>G (p.Ser677Gly)
Xg.53985133T>GCA413252884PHF8c.1921A>C (p.Ser641Arg)
c.2224A>C (p.Ser742Arg)
c.*679A>C (n.*679A>C)
c.*1666A>C (n.*1666A>C)
n.1588A>C
c.2173A>C (p.Ser725Arg)
c.2332A>C (p.Ser778Arg)
c.1935A>C
c.1514A>C
c.651A>C (p.Leu217=)
c.2029A>C (p.Ser677Arg)
Xg.53985134A>CCA413252890PHF8c.1920T>G (p.Ser640=)
c.2223T>G (p.Ser741=)
c.*678T>G (n.*678T>G)
c.*1665T>G (n.*1665T>G)
n.1587T>G
c.2172T>G (p.Ser724=)
c.2331T>G (p.Ser777=)
c.1934T>G
c.1513T>G
c.650T>G (p.Leu217Arg)
c.2028T>G (p.Ser676=)
 gnomAD v4
Xg.53985134A>GCA413252892PHF8c.1920T>C (p.Ser640=)
c.2223T>C (p.Ser741=)
c.*678T>C (n.*678T>C)
c.*1665T>C (n.*1665T>C)
n.1587T>C
c.2172T>C (p.Ser724=)
c.2331T>C (p.Ser777=)
c.1934T>C
c.1513T>C
c.650T>C (p.Leu217Pro)
c.2028T>C (p.Ser676=)
Xg.53985134A>TCA413252895PHF8c.1920T>A (p.Ser640=)
c.2223T>A (p.Ser741=)
c.*678T>A (n.*678T>A)
c.*1665T>A (n.*1665T>A)
n.1587T>A
c.2172T>A (p.Ser724=)
c.2331T>A (p.Ser777=)
c.1934T>A
c.1513T>A
c.650T>A (p.Leu217Gln)
c.2028T>A (p.Ser676=)
Xg.53985135G>ACA413252899PHF8c.1919C>T (p.Ser640Phe)
c.2222C>T (p.Ser741Phe)
c.*677C>T (n.*677C>T)
c.*1664C>T (n.*1664C>T)
n.1586C>T
c.2171C>T (p.Ser724Phe)
c.2330C>T (p.Ser777Phe)
c.1933C>T
c.1512C>T
c.649C>T (p.Leu217=)
c.2027C>T (p.Ser676Phe)
Xg.53985135G>CCA413252901PHF8c.1919C>G (p.Ser640Cys)
c.2222C>G (p.Ser741Cys)
c.*677C>G (n.*677C>G)
c.*1664C>G (n.*1664C>G)
n.1586C>G
c.2171C>G (p.Ser724Cys)
c.2330C>G (p.Ser777Cys)
c.1933C>G
c.1512C>G
c.649C>G (p.Leu217Val)
c.2027C>G (p.Ser676Cys)
 COSMIC COSMIC COSMIC COSMIC
Xg.53985135G>TCA413252903PHF8c.1919C>A (p.Ser640Tyr)
c.2222C>A (p.Ser741Tyr)
c.*677C>A (n.*677C>A)
c.*1664C>A (n.*1664C>A)
n.1586C>A
c.2171C>A (p.Ser724Tyr)
c.2330C>A (p.Ser777Tyr)
c.1933C>A
c.1512C>A
c.649C>A (p.Leu217Ile)
c.2027C>A (p.Ser676Tyr)
Xg.53985139_53985150delCA2693828192PHF8c.1908_1919del (p.Pro637_Ser640del)
c.2211_2222del (p.Pro738_Ser741del)
c.*666_*677del (n.*666_*677del)
c.*1653_*1664del (n.*1653_*1664del)
n.1575_1586del
c.2160_2171del (p.Pro721_Ser724del)
c.2319_2330del (p.Pro774_Ser777del)
c.1922_1933del
c.1501_1512del
c.638_649del (p.His213_Pro216del)
c.2016_2027del (p.Pro673_Ser676del)
 gnomAD v4
Xg.53985136A>CCA413252906PHF8c.1918T>G (p.Ser640Ala)
c.2221T>G (p.Ser741Ala)
c.*676T>G (n.*676T>G)
c.*1663T>G (n.*1663T>G)
n.1585T>G
c.2170T>G (p.Ser724Ala)
c.2329T>G (p.Ser777Ala)
c.1932T>G
c.1511T>G
c.648T>G (p.Pro216=)
c.2026T>G (p.Ser676Ala)
Xg.53985136A>GCA413252911PHF8c.1918T>C (p.Ser640Pro)
c.2221T>C (p.Ser741Pro)
c.*676T>C (n.*676T>C)
c.*1663T>C (n.*1663T>C)
n.1585T>C
c.2170T>C (p.Ser724Pro)
c.2329T>C (p.Ser777Pro)
c.1932T>C
c.1511T>C
c.648T>C (p.Pro216=)
c.2026T>C (p.Ser676Pro)
Xg.53985136A>TCA413252908PHF8c.1918T>A (p.Ser640Thr)
c.2221T>A (p.Ser741Thr)
c.*676T>A (n.*676T>A)
c.*1663T>A (n.*1663T>A)
n.1585T>A
c.2170T>A (p.Ser724Thr)
c.2329T>A (p.Ser777Thr)
c.1932T>A
c.1511T>A
c.648T>A (p.Pro216=)
c.2026T>A (p.Ser676Thr)
Xg.53985137G>ACA10423319PHF8c.1917C>T (p.Thr639=)
c.2220C>T (p.Thr740=)
c.*675C>T (n.*675C>T)
c.*1662C>T (n.*1662C>T)
n.1584C>T
c.2169C>T (p.Thr723=)
c.2328C>T (p.Thr776=)
c.1931C>T
c.1510C>T
c.647C>T (p.Pro216Leu)
c.2025C>T (p.Thr675=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53985137G>CCA413252915PHF8c.1917C>G (p.Thr639=)
c.2220C>G (p.Thr740=)
c.*675C>G (n.*675C>G)
c.*1662C>G (n.*1662C>G)
n.1584C>G
c.2169C>G (p.Thr723=)
c.2328C>G (p.Thr776=)
c.1931C>G
c.1510C>G
c.647C>G (p.Pro216Arg)
c.2025C>G (p.Thr675=)
 dbSNP
Xg.53985137G=CA2430030701PHF8c.1917C= (p.Thr639=)
c.2220C= (p.Thr740=)
c.*675C= (n.*675C=)
c.*1662C= (n.*1662C=)
n.1584C=
c.2169C= (p.Thr723=)
c.2328C= (p.Thr776=)
c.1931C=
c.1510C=
c.647C= (p.Pro216=)
c.2025C= (p.Thr675=)
Xg.53985137G>TCA413252917PHF8c.1917C>A (p.Thr639=)
c.2220C>A (p.Thr740=)
c.*675C>A (n.*675C>A)
c.*1662C>A (n.*1662C>A)
n.1584C>A
c.2169C>A (p.Thr723=)
c.2328C>A (p.Thr776=)
c.1931C>A
c.1510C>A
c.647C>A (p.Pro216His)
c.2025C>A (p.Thr675=)
Xg.53985138G>ACA413252919PHF8c.1916C>T (p.Thr639Ile)
c.2219C>T (p.Thr740Ile)
c.*674C>T (n.*674C>T)
c.*1661C>T (n.*1661C>T)
n.1583C>T
c.2168C>T (p.Thr723Ile)
c.2327C>T (p.Thr776Ile)
c.1930C>T
c.1509C>T
c.646C>T (p.Pro216Ser)
c.2024C>T (p.Thr675Ile)
 gnomAD v4
Xg.53985138G>CCA413252921PHF8c.1916C>G (p.Thr639Ser)
c.2219C>G (p.Thr740Ser)
c.*674C>G (n.*674C>G)
c.*1661C>G (n.*1661C>G)
n.1583C>G
c.2168C>G (p.Thr723Ser)
c.2327C>G (p.Thr776Ser)
c.1930C>G
c.1509C>G
c.646C>G (p.Pro216Ala)
c.2024C>G (p.Thr675Ser)
Xg.53985138G>TCA413252923PHF8c.1916C>A (p.Thr639Asn)
c.2219C>A (p.Thr740Asn)
c.*674C>A (n.*674C>A)
c.*1661C>A (n.*1661C>A)
n.1583C>A
c.2168C>A (p.Thr723Asn)
c.2327C>A (p.Thr776Asn)
c.1930C>A
c.1509C>A
c.646C>A (p.Pro216Thr)
c.2024C>A (p.Thr675Asn)
Xg.53985139T>ACA413252926PHF8c.1915A>T (p.Thr639Ser)
c.2218A>T (p.Thr740Ser)
c.*673A>T (n.*673A>T)
c.*1660A>T (n.*1660A>T)
n.1582A>T
c.2167A>T (p.Thr723Ser)
c.2326A>T (p.Thr776Ser)
c.1929A>T
c.1508A>T
c.645A>T (p.Leu215=)
c.2023A>T (p.Thr675Ser)
Xg.53985139T>CCA10423320PHF8c.1915A>G (p.Thr639Ala)
c.2218A>G (p.Thr740Ala)
c.*673A>G (n.*673A>G)
c.*1660A>G (n.*1660A>G)
n.1582A>G
c.2167A>G (p.Thr723Ala)
c.2326A>G (p.Thr776Ala)
c.1929A>G
c.1508A>G
c.645A>G (p.Leu215=)
c.2023A>G (p.Thr675Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53985139T>GCA413252930PHF8c.1915A>C (p.Thr639Pro)
c.2218A>C (p.Thr740Pro)
c.*673A>C (n.*673A>C)
c.*1660A>C (n.*1660A>C)
n.1582A>C
c.2167A>C (p.Thr723Pro)
c.2326A>C (p.Thr776Pro)
c.1929A>C
c.1508A>C
c.645A>C (p.Leu215=)
c.2023A>C (p.Thr675Pro)
Xg.53985139T=CA2430030702PHF8c.1915A= (p.Thr639=)
c.2218A= (p.Thr740=)
c.*673A= (n.*673A=)
c.*1660A= (n.*1660A=)
n.1582A=
c.2167A= (p.Thr723=)
c.2326A= (p.Thr776=)
c.1929A=
c.1508A=
c.645A= (p.Leu215=)
c.2023A= (p.Thr675=)
Xg.53985140A=CA2430030703PHF8c.1914T= (p.Ala638=)
c.2217T= (p.Ala739=)
c.*672T= (n.*672T=)
c.*1659T= (n.*1659T=)
n.1581T=
c.2166T= (p.Ala722=)
c.2325T= (p.Ala775=)
c.1928T=
c.1507T=
c.644T= (p.Leu215=)
c.2022T= (p.Ala674=)
Xg.53985140A>CCA413252934PHF8c.1914T>G (p.Ala638=)
c.2217T>G (p.Ala739=)
c.*672T>G (n.*672T>G)
c.*1659T>G (n.*1659T>G)
n.1581T>G
c.2166T>G (p.Ala722=)
c.2325T>G (p.Ala775=)
c.1928T>G
c.1507T>G
c.644T>G (p.Leu215Arg)
c.2022T>G (p.Ala674=)
Xg.53985140A>GCA413252935PHF8c.1914T>C (p.Ala638=)
c.2217T>C (p.Ala739=)
c.*672T>C (n.*672T>C)
c.*1659T>C (n.*1659T>C)
n.1581T>C
c.2166T>C (p.Ala722=)
c.2325T>C (p.Ala775=)
c.1928T>C
c.1507T>C
c.644T>C (p.Leu215Pro)
c.2022T>C (p.Ala674=)
 dbSNP gnomAD v2 gnomAD v4
Xg.53985140A>TCA413252937PHF8c.1914T>A (p.Ala638=)
c.2217T>A (p.Ala739=)
c.*672T>A (n.*672T>A)
c.*1659T>A (n.*1659T>A)
n.1581T>A
c.2166T>A (p.Ala722=)
c.2325T>A (p.Ala775=)
c.1928T>A
c.1507T>A
c.644T>A (p.Leu215Gln)
c.2022T>A (p.Ala674=)
Xg.53985141G>ACA413252940PHF8c.1913C>T (p.Ala638Val)
c.2216C>T (p.Ala739Val)
c.*671C>T (n.*671C>T)
c.*1658C>T (n.*1658C>T)
n.1580C>T
c.2165C>T (p.Ala722Val)
c.2324C>T (p.Ala775Val)
c.1927C>T
c.1506C>T
c.643C>T (p.Leu215=)
c.2021C>T (p.Ala674Val)
Xg.53985141G>CCA413252944PHF8c.1913C>G (p.Ala638Gly)
c.2216C>G (p.Ala739Gly)
c.*671C>G (n.*671C>G)
c.*1658C>G (n.*1658C>G)
n.1580C>G
c.2165C>G (p.Ala722Gly)
c.2324C>G (p.Ala775Gly)
c.1927C>G
c.1506C>G
c.643C>G (p.Leu215Val)
c.2021C>G (p.Ala674Gly)
Xg.53985141G>TCA413252942PHF8c.1913C>A (p.Ala638Asp)
c.2216C>A (p.Ala739Asp)
c.*671C>A (n.*671C>A)
c.*1658C>A (n.*1658C>A)
n.1580C>A
c.2165C>A (p.Ala722Asp)
c.2324C>A (p.Ala775Asp)
c.1927C>A
c.1506C>A
c.643C>A (p.Leu215Ile)
c.2021C>A (p.Ala674Asp)
 gnomAD v4
Xg.53985142C>ACA413252946PHF8c.1912G>T (p.Ala638Ser)
c.2215G>T (p.Ala739Ser)
c.*670G>T (n.*670G>T)
c.*1657G>T (n.*1657G>T)
n.1579G>T
c.2164G>T (p.Ala722Ser)
c.2323G>T (p.Ala775Ser)
c.1926G>T
c.1505G>T
c.642G>T (p.Arg214=)
c.2020G>T (p.Ala674Ser)
Xg.53985142C>GCA413252948PHF8c.1912G>C (p.Ala638Pro)
c.2215G>C (p.Ala739Pro)
c.*670G>C (n.*670G>C)
c.*1657G>C (n.*1657G>C)
n.1579G>C
c.2164G>C (p.Ala722Pro)
c.2323G>C (p.Ala775Pro)
c.1926G>C
c.1505G>C
c.642G>C (p.Arg214=)
c.2020G>C (p.Ala674Pro)
Xg.53985142C>TCA413252950PHF8c.1912G>A (p.Ala638Thr)
c.2215G>A (p.Ala739Thr)
c.*670G>A (n.*670G>A)
c.*1657G>A (n.*1657G>A)
n.1579G>A
c.2164G>A (p.Ala722Thr)
c.2323G>A (p.Ala775Thr)
c.1926G>A
c.1505G>A
c.642G>A (p.Arg214=)
c.2020G>A (p.Ala674Thr)
Xg.53985143C>ACA413252952PHF8c.1911G>T (p.Pro637=)
c.2214G>T (p.Pro738=)
c.*669G>T (n.*669G>T)
c.*1656G>T (n.*1656G>T)
n.1578G>T
c.2163G>T (p.Pro721=)
c.2322G>T (p.Pro774=)
c.1925G>T
c.1504G>T
c.641G>T (p.Arg214Leu)
c.2019G>T (p.Pro673=)
Xg.53985143C=CA2430030704PHF8c.1911G= (p.Pro637=)
c.2214G= (p.Pro738=)
c.*669G= (n.*669G=)
c.*1656G= (n.*1656G=)
n.1578G=
c.2163G= (p.Pro721=)
c.2322G= (p.Pro774=)
c.1925G=
c.1504G=
c.641G= (p.Arg214=)
c.2019G= (p.Pro673=)
Xg.53985143C>GCA413252955PHF8c.1911G>C (p.Pro637=)
c.2214G>C (p.Pro738=)
c.*669G>C (n.*669G>C)
c.*1656G>C (n.*1656G>C)
n.1578G>C
c.2163G>C (p.Pro721=)
c.2322G>C (p.Pro774=)
c.1925G>C
c.1504G>C
c.641G>C (p.Arg214Pro)
c.2019G>C (p.Pro673=)
Xg.53985143C>TCA10423321PHF8c.1911G>A (p.Pro637=)
c.2214G>A (p.Pro738=)
c.*669G>A (n.*669G>A)
c.*1656G>A (n.*1656G>A)
n.1578G>A
c.2163G>A (p.Pro721=)
c.2322G>A (p.Pro774=)
c.1925G>A
c.1504G>A
c.641G>A (p.Arg214Gln)
c.2019G>A (p.Pro673=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53985144G>ACA10423322PHF8c.1910C>T (p.Pro637Leu)
c.2213C>T (p.Pro738Leu)
c.*668C>T (n.*668C>T)
c.*1655C>T (n.*1655C>T)
n.1577C>T
c.2162C>T (p.Pro721Leu)
c.2321C>T (p.Pro774Leu)
c.1924C>T
c.1503C>T
c.640C>T (p.Arg214Trp)
c.2018C>T (p.Pro673Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53985144G>CCA413252957PHF8c.1910C>G (p.Pro637Arg)
c.2213C>G (p.Pro738Arg)
c.*668C>G (n.*668C>G)
c.*1655C>G (n.*1655C>G)
n.1577C>G
c.2162C>G (p.Pro721Arg)
c.2321C>G (p.Pro774Arg)
c.1924C>G
c.1503C>G
c.640C>G (p.Arg214Gly)
c.2018C>G (p.Pro673Arg)
Xg.53985144G=CA2430030705PHF8c.1910C= (p.Pro637=)
c.2213C= (p.Pro738=)
c.*668C= (n.*668C=)
c.*1655C= (n.*1655C=)
n.1577C=
c.2162C= (p.Pro721=)
c.2321C= (p.Pro774=)
c.1924C=
c.1503C=
c.640C= (p.Arg214=)
c.2018C= (p.Pro673=)
Xg.53985144G>TCA413252959PHF8c.1910C>A (p.Pro637Gln)
c.2213C>A (p.Pro738Gln)
c.*668C>A (n.*668C>A)
c.*1655C>A (n.*1655C>A)
n.1577C>A
c.2162C>A (p.Pro721Gln)
c.2321C>A (p.Pro774Gln)
c.1924C>A
c.1503C>A
c.640C>A (p.Arg214=)
c.2018C>A (p.Pro673Gln)
 gnomAD v4
Xg.53985145G>ACA413252962PHF8c.1909C>T (p.Pro637Ser)
c.2212C>T (p.Pro738Ser)
c.*667C>T (n.*667C>T)
c.*1654C>T (n.*1654C>T)
n.1576C>T
c.2161C>T (p.Pro721Ser)
c.2320C>T (p.Pro774Ser)
c.1923C>T
c.1502C>T
c.639C>T (p.His213=)
c.2017C>T (p.Pro673Ser)
Xg.53985145G>CCA413252964PHF8c.1909C>G (p.Pro637Ala)
c.2212C>G (p.Pro738Ala)
c.*667C>G (n.*667C>G)
c.*1654C>G (n.*1654C>G)
n.1576C>G
c.2161C>G (p.Pro721Ala)
c.2320C>G (p.Pro774Ala)
c.1923C>G
c.1502C>G
c.639C>G (p.His213Gln)
c.2017C>G (p.Pro673Ala)
Xg.53985145G>TCA413252965PHF8c.1909C>A (p.Pro637Thr)
c.2212C>A (p.Pro738Thr)
c.*667C>A (n.*667C>A)
c.*1654C>A (n.*1654C>A)
n.1576C>A
c.2161C>A (p.Pro721Thr)
c.2320C>A (p.Pro774Thr)
c.1923C>A
c.1502C>A
c.639C>A (p.His213Gln)
c.2017C>A (p.Pro673Thr)
Xg.53985146T>ACA413252972PHF8c.1908A>T (p.Ser636=)
c.2211A>T (p.Ser737=)
c.*666A>T (n.*666A>T)
c.*1653A>T (n.*1653A>T)
n.1575A>T
c.2160A>T (p.Ser720=)
c.2319A>T (p.Ser773=)
c.1922A>T
c.1501A>T
c.638A>T (p.His213Leu)
c.2016A>T (p.Ser672=)
Xg.53985146T>CCA10423323PHF8c.1908A>G (p.Ser636=)
c.2211A>G (p.Ser737=)
c.*666A>G (n.*666A>G)
c.*1653A>G (n.*1653A>G)
n.1575A>G
c.2160A>G (p.Ser720=)
c.2319A>G (p.Ser773=)
c.1922A>G
c.1501A>G
c.638A>G (p.His213Arg)
c.2016A>G (p.Ser672=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53985146T>GCA413252968PHF8c.1908A>C (p.Ser636=)
c.2211A>C (p.Ser737=)
c.*666A>C (n.*666A>C)
c.*1653A>C (n.*1653A>C)
n.1575A>C
c.2160A>C (p.Ser720=)
c.2319A>C (p.Ser773=)
c.1922A>C
c.1501A>C
c.638A>C (p.His213Pro)
c.2016A>C (p.Ser672=)
Xg.53985146T=CA2430030706PHF8c.1908A= (p.Ser636=)
c.2211A= (p.Ser737=)
c.*666A= (n.*666A=)
c.*1653A= (n.*1653A=)
n.1575A=
c.2160A= (p.Ser720=)
c.2319A= (p.Ser773=)
c.1922A=
c.1501A=
c.638A= (p.His213=)
c.2016A= (p.Ser672=)
Xg.53985147G>ACA413252974PHF8c.1907C>T (p.Ser636Leu)
c.2210C>T (p.Ser737Leu)
c.*665C>T (n.*665C>T)
c.*1652C>T (n.*1652C>T)
n.1574C>T
c.2159C>T (p.Ser720Leu)
c.2318C>T (p.Ser773Leu)
c.1921C>T
c.1500C>T
c.637C>T (p.His213Tyr)
c.2015C>T (p.Ser672Leu)
Xg.53985147G>CCA201396PHF8c.1907C>G (p.Ser636Ter)
c.2210C>G (p.Ser737Ter)
c.*665C>G (n.*665C>G)
c.*1652C>G (n.*1652C>G)
n.1574C>G
c.2159C>G (p.Ser720Ter)
c.2318C>G (p.Ser773Ter)
c.1921C>G
c.1500C>G
c.637C>G (p.His213Asp)
c.2015C>G (p.Ser672Ter)
 ClinVar dbSNP
Xg.53985147G=CA2430030707PHF8c.1907C= (p.Ser636=)
c.2210C= (p.Ser737=)
c.*665C= (n.*665C=)
c.*1652C= (n.*1652C=)
n.1574C=
c.2159C= (p.Ser720=)
c.2318C= (p.Ser773=)
c.1921C=
c.1500C=
c.637C= (p.His213=)
c.2015C= (p.Ser672=)
Xg.53985147G>TCA413252979PHF8c.1907C>A (p.Ser636Ter)
c.2210C>A (p.Ser737Ter)
c.*665C>A (n.*665C>A)
c.*1652C>A (n.*1652C>A)
n.1574C>A
c.2159C>A (p.Ser720Ter)
c.2318C>A (p.Ser773Ter)
c.1921C>A
c.1500C>A
c.637C>A (p.His213Asn)
c.2015C>A (p.Ser672Ter)
Xg.53985148A>CCA413252982PHF8c.1906T>G (p.Ser636Ala)
c.2209T>G (p.Ser737Ala)
c.*664T>G (n.*664T>G)
c.*1651T>G (n.*1651T>G)
n.1573T>G
c.2158T>G (p.Ser720Ala)
c.2317T>G (p.Ser773Ala)
c.1920T>G
c.1499T>G
c.636T>G (p.Pro212=)
c.2014T>G (p.Ser672Ala)
Xg.53985148A>GCA413252984PHF8c.1906T>C (p.Ser636Pro)
c.2209T>C (p.Ser737Pro)
c.*664T>C (n.*664T>C)
c.*1651T>C (n.*1651T>C)
n.1573T>C
c.2158T>C (p.Ser720Pro)
c.2317T>C (p.Ser773Pro)
c.1920T>C
c.1499T>C
c.636T>C (p.Pro212=)
c.2014T>C (p.Ser672Pro)
Xg.53985148A>TCA413252986PHF8c.1906T>A (p.Ser636Thr)
c.2209T>A (p.Ser737Thr)
c.*664T>A (n.*664T>A)
c.*1651T>A (n.*1651T>A)
n.1573T>A
c.2158T>A (p.Ser720Thr)
c.2317T>A (p.Ser773Thr)
c.1920T>A
c.1499T>A
c.636T>A (p.Pro212=)
c.2014T>A (p.Ser672Thr)
Xg.53985149G>ACA413252989PHF8c.1905C>T (p.Ser635=)
c.2208C>T (p.Ser736=)
c.*663C>T (n.*663C>T)
c.*1650C>T (n.*1650C>T)
n.1572C>T
c.2157C>T (p.Ser719=)
c.2316C>T (p.Ser772=)
c.1919C>T
c.1498C>T
c.635C>T (p.Pro212Leu)
c.2013C>T (p.Ser671=)
Xg.53985149G>CCA413252990PHF8c.1905C>G (p.Ser635=)
c.2208C>G (p.Ser736=)
c.*663C>G (n.*663C>G)
c.*1650C>G (n.*1650C>G)
n.1572C>G
c.2157C>G (p.Ser719=)
c.2316C>G (p.Ser772=)
c.1919C>G
c.1498C>G
c.635C>G (p.Pro212Arg)
c.2013C>G (p.Ser671=)
Xg.53985149G>TCA413252993PHF8c.1905C>A (p.Ser635=)
c.2208C>A (p.Ser736=)
c.*663C>A (n.*663C>A)
c.*1650C>A (n.*1650C>A)
n.1572C>A
c.2157C>A (p.Ser719=)
c.2316C>A (p.Ser772=)
c.1919C>A
c.1498C>A
c.635C>A (p.Pro212His)
c.2013C>A (p.Ser671=)
Xg.53985150G>ACA413252996PHF8c.1904C>T (p.Ser635Phe)
c.2207C>T (p.Ser736Phe)
c.*662C>T (n.*662C>T)
c.*1649C>T (n.*1649C>T)
n.1571C>T
c.2156C>T (p.Ser719Phe)
c.2315C>T (p.Ser772Phe)
c.1918C>T
c.1497C>T
c.634C>T (p.Pro212Ser)
c.2012C>T (p.Ser671Phe)
Xg.53985150G>CCA413252998PHF8c.1904C>G (p.Ser635Cys)
c.2207C>G (p.Ser736Cys)
c.*662C>G (n.*662C>G)
c.*1649C>G (n.*1649C>G)
n.1571C>G
c.2156C>G (p.Ser719Cys)
c.2315C>G (p.Ser772Cys)
c.1918C>G
c.1497C>G
c.634C>G (p.Pro212Ala)
c.2012C>G (p.Ser671Cys)
Xg.53985150G>TCA413253000PHF8c.1904C>A (p.Ser635Tyr)
c.2207C>A (p.Ser736Tyr)
c.*662C>A (n.*662C>A)
c.*1649C>A (n.*1649C>A)
n.1571C>A
c.2156C>A (p.Ser719Tyr)
c.2315C>A (p.Ser772Tyr)
c.1918C>A
c.1497C>A
c.634C>A (p.Pro212Thr)
c.2012C>A (p.Ser671Tyr)
Xg.53985151A>CCA413253003PHF8c.1903T>G (p.Ser635Ala)
c.2206T>G (p.Ser736Ala)
c.*661T>G (n.*661T>G)
c.*1648T>G (n.*1648T>G)
n.1570T>G
c.2155T>G (p.Ser719Ala)
c.2314T>G (p.Ser772Ala)
c.1917T>G
c.1496T>G
c.633T>G (p.Arg211=)
c.2011T>G (p.Ser671Ala)
Xg.53985151A>GCA413253010PHF8c.1903T>C (p.Ser635Pro)
c.2206T>C (p.Ser736Pro)
c.*661T>C (n.*661T>C)
c.*1648T>C (n.*1648T>C)
n.1570T>C
c.2155T>C (p.Ser719Pro)
c.2314T>C (p.Ser772Pro)
c.1917T>C
c.1496T>C
c.633T>C (p.Arg211=)
c.2011T>C (p.Ser671Pro)
Xg.53985151A>TCA413253007PHF8c.1903T>A (p.Ser635Thr)
c.2206T>A (p.Ser736Thr)
c.*661T>A (n.*661T>A)
c.*1648T>A (n.*1648T>A)
n.1570T>A
c.2155T>A (p.Ser719Thr)
c.2314T>A (p.Ser772Thr)
c.1917T>A
c.1496T>A
c.633T>A (p.Arg211=)
c.2011T>A (p.Ser671Thr)
Xg.53985152C>ACA413253013PHF8c.1902G>T (p.Ser634=)
c.2205G>T (p.Ser735=)
c.*660G>T (n.*660G>T)
c.*1647G>T (n.*1647G>T)
n.1569G>T
c.2154G>T (p.Ser718=)
c.2313G>T (p.Ser771=)
c.1916G>T
c.1495G>T
c.632G>T (p.Arg211Leu)
c.2010G>T (p.Ser670=)
Xg.53985152C=CA2430030708PHF8c.1902G= (p.Ser634=)
c.2205G= (p.Ser735=)
c.*660G= (n.*660G=)
c.*1647G= (n.*1647G=)
n.1569G=
c.2154G= (p.Ser718=)
c.2313G= (p.Ser771=)
c.1916G=
c.1495G=
c.632G= (p.Arg211=)
c.2010G= (p.Ser670=)
Xg.53985152C>GCA413253018PHF8c.1902G>C (p.Ser634=)
c.2205G>C (p.Ser735=)
c.*660G>C (n.*660G>C)
c.*1647G>C (n.*1647G>C)
n.1569G>C
c.2154G>C (p.Ser718=)
c.2313G>C (p.Ser771=)
c.1916G>C
c.1495G>C
c.632G>C (p.Arg211Pro)
c.2010G>C (p.Ser670=)
Xg.53985152C>TCA10423324PHF8c.1902G>A (p.Ser634=)
c.2205G>A (p.Ser735=)
c.*660G>A (n.*660G>A)
c.*1647G>A (n.*1647G>A)
n.1569G>A
c.2154G>A (p.Ser718=)
c.2313G>A (p.Ser771=)
c.1916G>A
c.1495G>A
c.632G>A (p.Arg211His)
c.2010G>A (p.Ser670=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53985153G>ACA329924353PHF8c.1901C>T (p.Ser634Leu)
c.2204C>T (p.Ser735Leu)
c.*659C>T (n.*659C>T)
c.*1646C>T (n.*1646C>T)
n.1568C>T
c.2153C>T (p.Ser718Leu)
c.2312C>T (p.Ser771Leu)
c.1915C>T
c.1494C>T
c.631C>T (p.Arg211Cys)
c.2009C>T (p.Ser670Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
Xg.53985153G>CCA413253024PHF8c.1901C>G (p.Ser634Trp)
c.2204C>G (p.Ser735Trp)
c.*659C>G (n.*659C>G)
c.*1646C>G (n.*1646C>G)
n.1568C>G
c.2153C>G (p.Ser718Trp)
c.2312C>G (p.Ser771Trp)
c.1915C>G
c.1494C>G
c.631C>G (p.Arg211Gly)
c.2009C>G (p.Ser670Trp)
Xg.53985153G=CA2430030709PHF8c.1901C= (p.Ser634=)
c.2204C= (p.Ser735=)
c.*659C= (n.*659C=)
c.*1646C= (n.*1646C=)
n.1568C=
c.2153C= (p.Ser718=)
c.2312C= (p.Ser771=)
c.1915C=
c.1494C=
c.631C= (p.Arg211=)
c.2009C= (p.Ser670=)
Xg.53985153G>TCA413253022PHF8c.1901C>A (p.Ser634Ter)
c.2204C>A (p.Ser735Ter)
c.*659C>A (n.*659C>A)
c.*1646C>A (n.*1646C>A)
n.1568C>A
c.2153C>A (p.Ser718Ter)
c.2312C>A (p.Ser771Ter)
c.1915C>A
c.1494C>A
c.631C>A (p.Arg211Ser)
c.2009C>A (p.Ser670Ter)
Xg.53985154A>CCA413253028PHF8c.1900T>G (p.Ser634Ala)
c.2203T>G (p.Ser735Ala)
c.*658T>G (n.*658T>G)
c.*1645T>G (n.*1645T>G)
n.1567T>G
c.2152T>G (p.Ser718Ala)
c.2311T>G (p.Ser771Ala)
c.1914T>G
c.1493T>G
c.630T>G (p.His210Gln)
c.2008T>G (p.Ser670Ala)
Xg.53985154A>GCA413253030PHF8c.1900T>C (p.Ser634Pro)
c.2203T>C (p.Ser735Pro)
c.*658T>C (n.*658T>C)
c.*1645T>C (n.*1645T>C)
n.1567T>C
c.2152T>C (p.Ser718Pro)
c.2311T>C (p.Ser771Pro)
c.1914T>C
c.1493T>C
c.630T>C (p.His210=)
c.2008T>C (p.Ser670Pro)
Xg.53985154A>TCA413253032PHF8c.1900T>A (p.Ser634Thr)
c.2203T>A (p.Ser735Thr)
c.*658T>A (n.*658T>A)
c.*1645T>A (n.*1645T>A)
n.1567T>A
c.2152T>A (p.Ser718Thr)
c.2311T>A (p.Ser771Thr)
c.1914T>A
c.1493T>A
c.630T>A (p.His210Gln)
c.2008T>A (p.Ser670Thr)

Number of alleles fetched