Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.76864301C>ACA461770817ZFHX4c.10587C>A (p.Ile3529=)
c.10509C>A (p.Ile3503=)
c.10470C>A (p.Ile3490=)
c.10392C>A (p.Ile3464=)
8g.76864301C>GCA371531652ZFHX4c.10587C>G (p.Ile3529Met)
c.10509C>G (p.Ile3503Met)
c.10470C>G (p.Ile3490Met)
c.10392C>G (p.Ile3464Met)
 gnomAD v4
8g.76864301C>TCA461770820ZFHX4c.10587C>T (p.Ile3529=)
c.10509C>T (p.Ile3503=)
c.10470C>T (p.Ile3490=)
c.10392C>T (p.Ile3464=)
 COSMIC COSMIC
8g.76864301_76864302delCA2830545185ZFHX4c.10587_10588del (p.Leu3530PhefsTer?)
c.10509_10510del (p.Leu3504PhefsTer?)
c.10470_10471del (p.Leu3491PhefsTer?)
c.10392_10393del (p.Leu3465PhefsTer?)
8g.76864302C>ACA371531655ZFHX4c.10588C>A (p.Leu3530Ile)
c.10510C>A (p.Leu3504Ile)
c.10471C>A (p.Leu3491Ile)
c.10393C>A (p.Leu3465Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.76864302C=CA1795296552ZFHX4c.10588C= (p.Leu3530=)
c.10510C= (p.Leu3504=)
c.10471C= (p.Leu3491=)
c.10393C= (p.Leu3465=)
8g.76864302C>GCA371531654ZFHX4c.10588C>G (p.Leu3530Val)
c.10510C>G (p.Leu3504Val)
c.10471C>G (p.Leu3491Val)
c.10393C>G (p.Leu3465Val)
8g.76864302C>TCA371531653ZFHX4c.10588C>T (p.Leu3530Phe)
c.10510C>T (p.Leu3504Phe)
c.10471C>T (p.Leu3491Phe)
c.10393C>T (p.Leu3465Phe)
8g.76864303T>ACA371531656ZFHX4c.10589T>A (p.Leu3530His)
c.10511T>A (p.Leu3504His)
c.10472T>A (p.Leu3491His)
c.10394T>A (p.Leu3465His)
8g.76864303T>CCA371531657ZFHX4c.10589T>C (p.Leu3530Pro)
c.10511T>C (p.Leu3504Pro)
c.10472T>C (p.Leu3491Pro)
c.10394T>C (p.Leu3465Pro)
8g.76864303T>GCA371531658ZFHX4c.10589T>G (p.Leu3530Arg)
c.10511T>G (p.Leu3504Arg)
c.10472T>G (p.Leu3491Arg)
c.10394T>G (p.Leu3465Arg)
8g.76864304T>ACA461770823ZFHX4c.10590T>A (p.Leu3530=)
c.10512T>A (p.Leu3504=)
c.10473T>A (p.Leu3491=)
c.10395T>A (p.Leu3465=)
8g.76864304T>CCA461770824ZFHX4c.10590T>C (p.Leu3530=)
c.10512T>C (p.Leu3504=)
c.10473T>C (p.Leu3491=)
c.10395T>C (p.Leu3465=)
 dbSNP gnomAD v2 gnomAD v4
8g.76864304T>GCA461770825ZFHX4c.10590T>G (p.Leu3530=)
c.10512T>G (p.Leu3504=)
c.10473T>G (p.Leu3491=)
c.10395T>G (p.Leu3465=)
8g.76864304T=CA1795296553ZFHX4c.10590T= (p.Leu3530=)
c.10512T= (p.Leu3504=)
c.10473T= (p.Leu3491=)
c.10395T= (p.Leu3465=)
8g.76864304_76864309delCA2830545186ZFHX4c.10590_10595del (p.Phe3531_Gln3532del)
c.10512_10517del (p.Phe3505_Gln3506del)
c.10473_10478del (p.Phe3492_Gln3493del)
c.10395_10400del (p.Phe3466_Gln3467del)
8g.76864305T>ACA371531659ZFHX4c.10591T>A (p.Phe3531Ile)
c.10513T>A (p.Phe3505Ile)
c.10474T>A (p.Phe3492Ile)
c.10396T>A (p.Phe3466Ile)
8g.76864305T>CCA371531660ZFHX4c.10591T>C (p.Phe3531Leu)
c.10513T>C (p.Phe3505Leu)
c.10474T>C (p.Phe3492Leu)
c.10396T>C (p.Phe3466Leu)
 COSMIC COSMIC
8g.76864305T>GCA371531661ZFHX4c.10591T>G (p.Phe3531Val)
c.10513T>G (p.Phe3505Val)
c.10474T>G (p.Phe3492Val)
c.10396T>G (p.Phe3466Val)
8g.76864306T>ACA371531662ZFHX4c.10592T>A (p.Phe3531Tyr)
c.10514T>A (p.Phe3505Tyr)
c.10475T>A (p.Phe3492Tyr)
c.10397T>A (p.Phe3466Tyr)
8g.76864306T>CCA371531663ZFHX4c.10592T>C (p.Phe3531Ser)
c.10514T>C (p.Phe3505Ser)
c.10475T>C (p.Phe3492Ser)
c.10397T>C (p.Phe3466Ser)
 gnomAD v4
8g.76864306T>GCA371531664ZFHX4c.10592T>G (p.Phe3531Cys)
c.10514T>G (p.Phe3505Cys)
c.10475T>G (p.Phe3492Cys)
c.10397T>G (p.Phe3466Cys)
8g.76864307C>ACA371531665ZFHX4c.10593C>A (p.Phe3531Leu)
c.10515C>A (p.Phe3505Leu)
c.10476C>A (p.Phe3492Leu)
c.10398C>A (p.Phe3466Leu)
8g.76864307C=CA1795296554ZFHX4c.10593C= (p.Phe3531=)
c.10515C= (p.Phe3505=)
c.10476C= (p.Phe3492=)
c.10398C= (p.Phe3466=)
8g.76864307C>GCA371531666ZFHX4c.10593C>G (p.Phe3531Leu)
c.10515C>G (p.Phe3505Leu)
c.10476C>G (p.Phe3492Leu)
c.10398C>G (p.Phe3466Leu)
8g.76864307C>TCA4788561ZFHX4c.10593C>T (p.Phe3531=)
c.10515C>T (p.Phe3505=)
c.10476C>T (p.Phe3492=)
c.10398C>T (p.Phe3466=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.76864308C>ACA371531667ZFHX4c.10594C>A (p.Gln3532Lys)
c.10516C>A (p.Gln3506Lys)
c.10477C>A (p.Gln3493Lys)
c.10399C>A (p.Gln3467Lys)
 dbSNP
8g.76864308C>GCA371531669ZFHX4c.10594C>G (p.Gln3532Glu)
c.10516C>G (p.Gln3506Glu)
c.10477C>G (p.Gln3493Glu)
c.10399C>G (p.Gln3467Glu)
8g.76864308C>TCA371531668ZFHX4c.10594C>T (p.Gln3532Ter)
c.10516C>T (p.Gln3506Ter)
c.10477C>T (p.Gln3493Ter)
c.10399C>T (p.Gln3467Ter)
 gnomAD v4
8g.76864309A=CA1795296555ZFHX4c.10595A= (p.Gln3532=)
c.10517A= (p.Gln3506=)
c.10478A= (p.Gln3493=)
c.10400A= (p.Gln3467=)
8g.76864309A>CCA371531670ZFHX4c.10595A>C (p.Gln3532Pro)
c.10517A>C (p.Gln3506Pro)
c.10478A>C (p.Gln3493Pro)
c.10400A>C (p.Gln3467Pro)
8g.76864309A>GCA371531672ZFHX4c.10595A>G (p.Gln3532Arg)
c.10517A>G (p.Gln3506Arg)
c.10478A>G (p.Gln3493Arg)
c.10400A>G (p.Gln3467Arg)
 dbSNP gnomAD v4
8g.76864309A>TCA371531671ZFHX4c.10595A>T (p.Gln3532Leu)
c.10517A>T (p.Gln3506Leu)
c.10478A>T (p.Gln3493Leu)
c.10400A>T (p.Gln3467Leu)
8g.76864310A=CA1795296556ZFHX4c.10596A= (p.Gln3532=)
c.10518A= (p.Gln3506=)
c.10479A= (p.Gln3493=)
c.10401A= (p.Gln3467=)
8g.76864310A>CCA371531673ZFHX4c.10596A>C (p.Gln3532His)
c.10518A>C (p.Gln3506His)
c.10479A>C (p.Gln3493His)
c.10401A>C (p.Gln3467His)
 dbSNP
8g.76864310A>GCA461770832ZFHX4c.10596A>G (p.Gln3532=)
c.10518A>G (p.Gln3506=)
c.10479A>G (p.Gln3493=)
c.10401A>G (p.Gln3467=)
8g.76864310A>TCA371531674ZFHX4c.10596A>T (p.Gln3532His)
c.10518A>T (p.Gln3506His)
c.10479A>T (p.Gln3493His)
c.10401A>T (p.Gln3467His)
8g.76864311G>ACA371531675ZFHX4c.10597G>A (p.Ala3533Thr)
c.10519G>A (p.Ala3507Thr)
c.10480G>A (p.Ala3494Thr)
c.10402G>A (p.Ala3468Thr)
 COSMIC COSMIC
8g.76864311G>CCA371531676ZFHX4c.10597G>C (p.Ala3533Pro)
c.10519G>C (p.Ala3507Pro)
c.10480G>C (p.Ala3494Pro)
c.10402G>C (p.Ala3468Pro)
 COSMIC COSMIC
8g.76864311G>TCA371531677ZFHX4c.10597G>T (p.Ala3533Ser)
c.10519G>T (p.Ala3507Ser)
c.10480G>T (p.Ala3494Ser)
c.10402G>T (p.Ala3468Ser)
8g.76864312C>ACA371531678ZFHX4c.10598C>A (p.Ala3533Glu)
c.10520C>A (p.Ala3507Glu)
c.10481C>A (p.Ala3494Glu)
c.10403C>A (p.Ala3468Glu)
 gnomAD v4 COSMIC COSMIC
8g.76864312C=CA1795296557ZFHX4c.10598C= (p.Ala3533=)
c.10520C= (p.Ala3507=)
c.10481C= (p.Ala3494=)
c.10403C= (p.Ala3468=)
8g.76864312C>GCA371531679ZFHX4c.10598C>G (p.Ala3533Gly)
c.10520C>G (p.Ala3507Gly)
c.10481C>G (p.Ala3494Gly)
c.10403C>G (p.Ala3468Gly)
8g.76864312C>TCA4788562ZFHX4c.10598C>T (p.Ala3533Val)
c.10520C>T (p.Ala3507Val)
c.10481C>T (p.Ala3494Val)
c.10403C>T (p.Ala3468Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.76864312_76864316delCA2830545187ZFHX4c.10598_10602del (p.Ala3533GlyfsTer?)
c.10520_10524del (p.Ala3507GlyfsTer?)
c.10481_10485del (p.Ala3494GlyfsTer?)
c.10403_10407del (p.Ala3468GlyfsTer?)
8g.76864313G>ACA4788563ZFHX4c.10599G>A (p.Ala3533=)
c.10521G>A (p.Ala3507=)
c.10482G>A (p.Ala3494=)
c.10404G>A (p.Ala3468=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.76864313G>CCA461770838ZFHX4c.10599G>C (p.Ala3533=)
c.10521G>C (p.Ala3507=)
c.10482G>C (p.Ala3494=)
c.10404G>C (p.Ala3468=)
8g.76864313G=CA1795296558ZFHX4c.10599G= (p.Ala3533=)
c.10521G= (p.Ala3507=)
c.10482G= (p.Ala3494=)
c.10404G= (p.Ala3468=)
8g.76864313G>TCA461770837ZFHX4c.10599G>T (p.Ala3533=)
c.10521G>T (p.Ala3507=)
c.10482G>T (p.Ala3494=)
c.10404G>T (p.Ala3468=)
 dbSNP
8g.76864314T>ACA371531680ZFHX4c.10600T>A (p.Ser3534Thr)
c.10522T>A (p.Ser3508Thr)
c.10483T>A (p.Ser3495Thr)
c.10405T>A (p.Ser3469Thr)
8g.76864314T>CCA371531681ZFHX4c.10600T>C (p.Ser3534Pro)
c.10522T>C (p.Ser3508Pro)
c.10483T>C (p.Ser3495Pro)
c.10405T>C (p.Ser3469Pro)
8g.76864314T>GCA371531682ZFHX4c.10600T>G (p.Ser3534Ala)
c.10522T>G (p.Ser3508Ala)
c.10483T>G (p.Ser3495Ala)
c.10405T>G (p.Ser3469Ala)
8g.76864315C>ACA371531685ZFHX4c.10601C>A (p.Ser3534Tyr)
c.10523C>A (p.Ser3508Tyr)
c.10484C>A (p.Ser3495Tyr)
c.10406C>A (p.Ser3469Tyr)
 dbSNP COSMIC
8g.76864315C=CA1795296559ZFHX4c.10601C= (p.Ser3534=)
c.10523C= (p.Ser3508=)
c.10484C= (p.Ser3495=)
c.10406C= (p.Ser3469=)
8g.76864315C>GCA371531683ZFHX4c.10601C>G (p.Ser3534Cys)
c.10523C>G (p.Ser3508Cys)
c.10484C>G (p.Ser3495Cys)
c.10406C>G (p.Ser3469Cys)
 gnomAD v4 COSMIC COSMIC
8g.76864315C>TCA371531684ZFHX4c.10601C>T (p.Ser3534Phe)
c.10523C>T (p.Ser3508Phe)
c.10484C>T (p.Ser3495Phe)
c.10406C>T (p.Ser3469Phe)
8g.76864316T>ACA461770840ZFHX4c.10602T>A (p.Ser3534=)
c.10524T>A (p.Ser3508=)
c.10485T>A (p.Ser3495=)
c.10407T>A (p.Ser3469=)
8g.76864316T>CCA461770842ZFHX4c.10602T>C (p.Ser3534=)
c.10524T>C (p.Ser3508=)
c.10485T>C (p.Ser3495=)
c.10407T>C (p.Ser3469=)
8g.76864316T>GCA461770841ZFHX4c.10602T>G (p.Ser3534=)
c.10524T>G (p.Ser3508=)
c.10485T>G (p.Ser3495=)
c.10407T>G (p.Ser3469=)
8g.76864317G>ACA371531686ZFHX4c.10603G>A (p.Ala3535Thr)
c.10525G>A (p.Ala3509Thr)
c.10486G>A (p.Ala3496Thr)
c.10408G>A (p.Ala3470Thr)
 gnomAD v4
8g.76864317G>CCA371531687ZFHX4c.10603G>C (p.Ala3535Pro)
c.10525G>C (p.Ala3509Pro)
c.10486G>C (p.Ala3496Pro)
c.10408G>C (p.Ala3470Pro)
8g.76864317G=CA1795296560ZFHX4c.10603G= (p.Ala3535=)
c.10525G= (p.Ala3509=)
c.10486G= (p.Ala3496=)
c.10408G= (p.Ala3470=)
8g.76864317G>TCA4788564ZFHX4c.10603G>T (p.Ala3535Ser)
c.10525G>T (p.Ala3509Ser)
c.10486G>T (p.Ala3496Ser)
c.10408G>T (p.Ala3470Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.76864318C>ACA371531688ZFHX4c.10604C>A (p.Ala3535Asp)
c.10526C>A (p.Ala3509Asp)
c.10487C>A (p.Ala3496Asp)
c.10409C>A (p.Ala3470Asp)
8g.76864318C=CA1795296561ZFHX4c.10604C= (p.Ala3535=)
c.10526C= (p.Ala3509=)
c.10487C= (p.Ala3496=)
c.10409C= (p.Ala3470=)
8g.76864318C>GCA371531689ZFHX4c.10604C>G (p.Ala3535Gly)
c.10526C>G (p.Ala3509Gly)
c.10487C>G (p.Ala3496Gly)
c.10409C>G (p.Ala3470Gly)
 dbSNP
8g.76864318C>TCA4788565ZFHX4c.10604C>T (p.Ala3535Val)
c.10526C>T (p.Ala3509Val)
c.10487C>T (p.Ala3496Val)
c.10409C>T (p.Ala3470Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.76864319C>ACA461770848ZFHX4c.10605C>A (p.Ala3535=)
c.10527C>A (p.Ala3509=)
c.10488C>A (p.Ala3496=)
c.10410C>A (p.Ala3470=)
8g.76864319C=CA1795296562ZFHX4c.10605C= (p.Ala3535=)
c.10527C= (p.Ala3509=)
c.10488C= (p.Ala3496=)
c.10410C= (p.Ala3470=)
8g.76864319C>GCA461770849ZFHX4c.10605C>G (p.Ala3535=)
c.10527C>G (p.Ala3509=)
c.10488C>G (p.Ala3496=)
c.10410C>G (p.Ala3470=)
8g.76864319C>TCA4788566ZFHX4c.10605C>T (p.Ala3535=)
c.10527C>T (p.Ala3509=)
c.10488C>T (p.Ala3496=)
c.10410C>T (p.Ala3470=)
 dbSNP ExAC gnomAD v2
8g.76864320A>CCA461770853ZFHX4c.10606A>C (p.Arg3536=)
c.10528A>C (p.Arg3510=)
c.10489A>C (p.Arg3497=)
c.10411A>C (p.Arg3471=)
8g.76864320A>GCA371531690ZFHX4c.10606A>G (p.Arg3536Gly)
c.10528A>G (p.Arg3510Gly)
c.10489A>G (p.Arg3497Gly)
c.10411A>G (p.Arg3471Gly)
8g.76864320A>TCA371531691ZFHX4c.10606A>T (p.Arg3536Trp)
c.10528A>T (p.Arg3510Trp)
c.10489A>T (p.Arg3497Trp)
c.10411A>T (p.Arg3471Trp)
8g.76864321G>ACA371531692ZFHX4c.10607G>A (p.Arg3536Lys)
c.10529G>A (p.Arg3510Lys)
c.10490G>A (p.Arg3497Lys)
c.10412G>A (p.Arg3471Lys)
 gnomAD v4
8g.76864321G>CCA371531693ZFHX4c.10607G>C (p.Arg3536Thr)
c.10529G>C (p.Arg3510Thr)
c.10490G>C (p.Arg3497Thr)
c.10412G>C (p.Arg3471Thr)
8g.76864321G>TCA371531694ZFHX4c.10607G>T (p.Arg3536Met)
c.10529G>T (p.Arg3510Met)
c.10490G>T (p.Arg3497Met)
c.10412G>T (p.Arg3471Met)
 gnomAD v4
8g.76864322G>ACA461770856ZFHX4c.10608G>A (p.Arg3536=)
c.10530G>A (p.Arg3510=)
c.10491G>A (p.Arg3497=)
c.10413G>A (p.Arg3471=)
 gnomAD v4
8g.76864322G>CCA371531695ZFHX4c.10608G>C (p.Arg3536Ser)
c.10530G>C (p.Arg3510Ser)
c.10491G>C (p.Arg3497Ser)
c.10413G>C (p.Arg3471Ser)
 COSMIC
8g.76864322G>TCA371531696ZFHX4c.10608G>T (p.Arg3536Ser)
c.10530G>T (p.Arg3510Ser)
c.10491G>T (p.Arg3497Ser)
c.10413G>T (p.Arg3471Ser)
 gnomAD v4
8g.76864323A>CCA461770859ZFHX4c.10609A>C (p.Arg3537=)
c.10531A>C (p.Arg3511=)
c.10492A>C (p.Arg3498=)
c.10414A>C (p.Arg3472=)
8g.76864323A>GCA371531697ZFHX4c.10609A>G (p.Arg3537Gly)
c.10531A>G (p.Arg3511Gly)
c.10492A>G (p.Arg3498Gly)
c.10414A>G (p.Arg3472Gly)
8g.76864323A>TCA371531698ZFHX4c.10609A>T (p.Arg3537Ter)
c.10531A>T (p.Arg3511Ter)
c.10492A>T (p.Arg3498Ter)
c.10414A>T (p.Arg3472Ter)
 COSMIC COSMIC
8g.76864323_76864324insCTTCATGCA2830545188ZFHX4c.10609_10610insCTTCATG (p.Arg3537ThrfsTer?)
c.10531_10532insCTTCATG (p.Arg3511ThrfsTer?)
c.10492_10493insCTTCATG (p.Arg3498ThrfsTer?)
c.10414_10415insCTTCATG (p.Arg3472ThrfsTer?)
8g.76864324G>ACA371531699ZFHX4c.10610G>A (p.Arg3537Lys)
c.10532G>A (p.Arg3511Lys)
c.10493G>A (p.Arg3498Lys)
c.10415G>A (p.Arg3472Lys)
 gnomAD v4
8g.76864324G>CCA371531700ZFHX4c.10610G>C (p.Arg3537Thr)
c.10532G>C (p.Arg3511Thr)
c.10493G>C (p.Arg3498Thr)
c.10415G>C (p.Arg3472Thr)
8g.76864324G>TCA371531701ZFHX4c.10610G>T (p.Arg3537Ile)
c.10532G>T (p.Arg3511Ile)
c.10493G>T (p.Arg3498Ile)
c.10415G>T (p.Arg3472Ile)
8g.76864325A>CCA371531702ZFHX4c.10611A>C (p.Arg3537Ser)
c.10533A>C (p.Arg3511Ser)
c.10494A>C (p.Arg3498Ser)
c.10416A>C (p.Arg3472Ser)
8g.76864325A>GCA461770861ZFHX4c.10611A>G (p.Arg3537=)
c.10533A>G (p.Arg3511=)
c.10494A>G (p.Arg3498=)
c.10416A>G (p.Arg3472=)
 gnomAD v4
8g.76864325A>TCA371531703ZFHX4c.10611A>T (p.Arg3537Ser)
c.10533A>T (p.Arg3511Ser)
c.10494A>T (p.Arg3498Ser)
c.10416A>T (p.Arg3472Ser)
8g.76864326G>ACA371531704ZFHX4c.10612G>A (p.Ala3538Thr)
c.10534G>A (p.Ala3512Thr)
c.10495G>A (p.Ala3499Thr)
c.10417G>A (p.Ala3473Thr)
 gnomAD v4
8g.76864326G>CCA371531705ZFHX4c.10612G>C (p.Ala3538Pro)
c.10534G>C (p.Ala3512Pro)
c.10495G>C (p.Ala3499Pro)
c.10417G>C (p.Ala3473Pro)
8g.76864326G>TCA371531706ZFHX4c.10612G>T (p.Ala3538Ser)
c.10534G>T (p.Ala3512Ser)
c.10495G>T (p.Ala3499Ser)
c.10417G>T (p.Ala3473Ser)
8g.76864327C>ACA371531707ZFHX4c.10613C>A (p.Ala3538Asp)
c.10535C>A (p.Ala3512Asp)
c.10496C>A (p.Ala3499Asp)
c.10418C>A (p.Ala3473Asp)
8g.76864327C>GCA371531708ZFHX4c.10613C>G (p.Ala3538Gly)
c.10535C>G (p.Ala3512Gly)
c.10496C>G (p.Ala3499Gly)
c.10418C>G (p.Ala3473Gly)
8g.76864327C>TCA371531709ZFHX4c.10613C>T (p.Ala3538Val)
c.10535C>T (p.Ala3512Val)
c.10496C>T (p.Ala3499Val)
c.10418C>T (p.Ala3473Val)
8g.76864328T>ACA461770864ZFHX4c.10614T>A (p.Ala3538=)
c.10536T>A (p.Ala3512=)
c.10497T>A (p.Ala3499=)
c.10419T>A (p.Ala3473=)
8g.76864328T>CCA461770865ZFHX4c.10614T>C (p.Ala3538=)
c.10536T>C (p.Ala3512=)
c.10497T>C (p.Ala3499=)
c.10419T>C (p.Ala3473=)
8g.76864328T>GCA461770866ZFHX4c.10614T>G (p.Ala3538=)
c.10536T>G (p.Ala3512=)
c.10497T>G (p.Ala3499=)
c.10419T>G (p.Ala3473=)
8g.76864329G>ACA4788567ZFHX4c.10615G>A (p.Ala3539Thr)
c.10537G>A (p.Ala3513Thr)
c.10498G>A (p.Ala3500Thr)
c.10420G>A (p.Ala3474Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.76864329G>CCA371531710ZFHX4c.10615G>C (p.Ala3539Pro)
c.10537G>C (p.Ala3513Pro)
c.10498G>C (p.Ala3500Pro)
c.10420G>C (p.Ala3474Pro)
8g.76864329G=CA1795296563ZFHX4c.10615G= (p.Ala3539=)
c.10537G= (p.Ala3513=)
c.10498G= (p.Ala3500=)
c.10420G= (p.Ala3474=)
8g.76864329G>TCA371531711ZFHX4c.10615G>T (p.Ala3539Ser)
c.10537G>T (p.Ala3513Ser)
c.10498G>T (p.Ala3500Ser)
c.10420G>T (p.Ala3474Ser)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
8g.76864330C>ACA371531712ZFHX4c.10616C>A (p.Ala3539Asp)
c.10538C>A (p.Ala3513Asp)
c.10499C>A (p.Ala3500Asp)
c.10421C>A (p.Ala3474Asp)
 COSMIC
8g.76864330C>GCA371531713ZFHX4c.10616C>G (p.Ala3539Gly)
c.10538C>G (p.Ala3513Gly)
c.10499C>G (p.Ala3500Gly)
c.10421C>G (p.Ala3474Gly)
8g.76864330C>TCA371531714ZFHX4c.10616C>T (p.Ala3539Val)
c.10538C>T (p.Ala3513Val)
c.10499C>T (p.Ala3500Val)
c.10421C>T (p.Ala3474Val)
8g.76864331T>ACA461770868ZFHX4c.10617T>A (p.Ala3539=)
c.10539T>A (p.Ala3513=)
c.10500T>A (p.Ala3500=)
c.10422T>A (p.Ala3474=)
8g.76864331T>CCA179375965ZFHX4c.10617T>C (p.Ala3539=)
c.10539T>C (p.Ala3513=)
c.10500T>C (p.Ala3500=)
c.10422T>C (p.Ala3474=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.76864331T>GCA461770869ZFHX4c.10617T>G (p.Ala3539=)
c.10539T>G (p.Ala3513=)
c.10500T>G (p.Ala3500=)
c.10422T>G (p.Ala3474=)
8g.76864331T=CA1795296564ZFHX4c.10617T= (p.Ala3539=)
c.10539T= (p.Ala3513=)
c.10500T= (p.Ala3500=)
c.10422T= (p.Ala3474=)
8g.76864332T>ACA371531715ZFHX4c.10618T>A (p.Ser3540Thr)
c.10540T>A (p.Ser3514Thr)
c.10501T>A (p.Ser3501Thr)
c.10423T>A (p.Ser3475Thr)
8g.76864332T>CCA371531716ZFHX4c.10618T>C (p.Ser3540Pro)
c.10540T>C (p.Ser3514Pro)
c.10501T>C (p.Ser3501Pro)
c.10423T>C (p.Ser3475Pro)
8g.76864332T>GCA371531717ZFHX4c.10618T>G (p.Ser3540Ala)
c.10540T>G (p.Ser3514Ala)
c.10501T>G (p.Ser3501Ala)
c.10423T>G (p.Ser3475Ala)
8g.76864333C>ACA371531718ZFHX4c.10619C>A (p.Ser3540Tyr)
c.10541C>A (p.Ser3514Tyr)
c.10502C>A (p.Ser3501Tyr)
c.10424C>A (p.Ser3475Tyr)
8g.76864333C>GCA371531719ZFHX4c.10619C>G (p.Ser3540Cys)
c.10541C>G (p.Ser3514Cys)
c.10502C>G (p.Ser3501Cys)
c.10424C>G (p.Ser3475Cys)
8g.76864333C>TCA371531720ZFHX4c.10619C>T (p.Ser3540Phe)
c.10541C>T (p.Ser3514Phe)
c.10502C>T (p.Ser3501Phe)
c.10424C>T (p.Ser3475Phe)
8g.76864334T>ACA461770872ZFHX4c.10620T>A (p.Ser3540=)
c.10542T>A (p.Ser3514=)
c.10503T>A (p.Ser3501=)
c.10425T>A (p.Ser3475=)
8g.76864334T>CCA461770873ZFHX4c.10620T>C (p.Ser3540=)
c.10542T>C (p.Ser3514=)
c.10503T>C (p.Ser3501=)
c.10425T>C (p.Ser3475=)
8g.76864334T>GCA461770874ZFHX4c.10620T>G (p.Ser3540=)
c.10542T>G (p.Ser3514=)
c.10503T>G (p.Ser3501=)
c.10425T>G (p.Ser3475=)
8g.76864335C>ACA371531721ZFHX4c.10621C>A (p.Pro3541Thr)
c.10543C>A (p.Pro3515Thr)
c.10504C>A (p.Pro3502Thr)
c.10426C>A (p.Pro3476Thr)
8g.76864335C=CA1795296565ZFHX4c.10621C= (p.Pro3541=)
c.10543C= (p.Pro3515=)
c.10504C= (p.Pro3502=)
c.10426C= (p.Pro3476=)
8g.76864335C>GCA371531722ZFHX4c.10621C>G (p.Pro3541Ala)
c.10543C>G (p.Pro3515Ala)
c.10504C>G (p.Pro3502Ala)
c.10426C>G (p.Pro3476Ala)
8g.76864335C>TCA371531723ZFHX4c.10621C>T (p.Pro3541Ser)
c.10543C>T (p.Pro3515Ser)
c.10504C>T (p.Pro3502Ser)
c.10426C>T (p.Pro3476Ser)
 dbSNP gnomAD v2
8g.76864339dupCA2780920038ZFHX4c.10625dup (p.Ser3543PhefsTer?)
c.10547dup (p.Ser3517PhefsTer?)
c.10508dup (p.Ser3504PhefsTer?)
c.10430dup (p.Ser3478PhefsTer?)
8g.76864336C>ACA371531725ZFHX4c.10622C>A (p.Pro3541His)
c.10544C>A (p.Pro3515His)
c.10505C>A (p.Pro3502His)
c.10427C>A (p.Pro3476His)
8g.76864336C>GCA371531726ZFHX4c.10622C>G (p.Pro3541Arg)
c.10544C>G (p.Pro3515Arg)
c.10505C>G (p.Pro3502Arg)
c.10427C>G (p.Pro3476Arg)
8g.76864336C>TCA371531724ZFHX4c.10622C>T (p.Pro3541Leu)
c.10544C>T (p.Pro3515Leu)
c.10505C>T (p.Pro3502Leu)
c.10427C>T (p.Pro3476Leu)
8g.76864337C>ACA461770879ZFHX4c.10623C>A (p.Pro3541=)
c.10545C>A (p.Pro3515=)
c.10506C>A (p.Pro3502=)
c.10428C>A (p.Pro3476=)
8g.76864337C=CA1795296566ZFHX4c.10623C= (p.Pro3541=)
c.10545C= (p.Pro3515=)
c.10506C= (p.Pro3502=)
c.10428C= (p.Pro3476=)
8g.76864337C>GCA4788568ZFHX4c.10623C>G (p.Pro3541=)
c.10545C>G (p.Pro3515=)
c.10506C>G (p.Pro3502=)
c.10428C>G (p.Pro3476=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.76864337C>TCA461770880ZFHX4c.10623C>T (p.Pro3541=)
c.10545C>T (p.Pro3515=)
c.10506C>T (p.Pro3502=)
c.10428C>T (p.Pro3476=)
8g.76864338C>ACA371531727ZFHX4c.10624C>A (p.Pro3542Thr)
c.10546C>A (p.Pro3516Thr)
c.10507C>A (p.Pro3503Thr)
c.10429C>A (p.Pro3477Thr)
8g.76864338C=CA1795296568ZFHX4c.10624C= (p.Pro3542=)
c.10546C= (p.Pro3516=)
c.10507C= (p.Pro3503=)
c.10429C= (p.Pro3477=)
8g.76864338C>GCA4788571ZFHX4c.10624C>G (p.Pro3542Ala)
c.10546C>G (p.Pro3516Ala)
c.10507C>G (p.Pro3503Ala)
c.10429C>G (p.Pro3477Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.76864338C>TCA4788570ZFHX4c.10624C>T (p.Pro3542Ser)
c.10546C>T (p.Pro3516Ser)
c.10507C>T (p.Pro3503Ser)
c.10429C>T (p.Pro3477Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.76864338_76864341delinsCCTTCA1795296567ZFHX4c.10624_10627delinsCCTT (p.Pro3542=)
c.10546_10549delinsCCTT (p.Pro3516=)
c.10507_10510delinsCCTT (p.Pro3503=)
c.10429_10432delinsCCTT (p.Pro3477=)
8g.76864339C>ACA371531729ZFHX4c.10625C>A (p.Pro3542His)
c.10547C>A (p.Pro3516His)
c.10508C>A (p.Pro3503His)
c.10430C>A (p.Pro3477His)
 gnomAD v4
8g.76864339C=CA1795296569ZFHX4c.10625C= (p.Pro3542=)
c.10547C= (p.Pro3516=)
c.10508C= (p.Pro3503=)
c.10430C= (p.Pro3477=)
8g.76864339C>GCA371531728ZFHX4c.10625C>G (p.Pro3542Arg)
c.10547C>G (p.Pro3516Arg)
c.10508C>G (p.Pro3503Arg)
c.10430C>G (p.Pro3477Arg)
 dbSNP gnomAD v3 gnomAD v4
8g.76864339C>TCA4788572ZFHX4c.10625C>T (p.Pro3542Leu)
c.10547C>T (p.Pro3516Leu)
c.10508C>T (p.Pro3503Leu)
c.10430C>T (p.Pro3477Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.76864344_76864346delCA4788569ZFHX4c.10630_10632del (p.Ser3544del)
c.10552_10554del (p.Ser3518del)
c.10513_10515del (p.Ser3505del)
c.10435_10437del (p.Ser3479del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
8g.76864340T>ACA461770884ZFHX4c.10626T>A (p.Pro3542=)
c.10548T>A (p.Pro3516=)
c.10509T>A (p.Pro3503=)
c.10431T>A (p.Pro3477=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.76864340T>CCA461770886ZFHX4c.10626T>C (p.Pro3542=)
c.10548T>C (p.Pro3516=)
c.10509T>C (p.Pro3503=)
c.10431T>C (p.Pro3477=)
8g.76864340T>GCA461770885ZFHX4c.10626T>G (p.Pro3542=)
c.10548T>G (p.Pro3516=)
c.10509T>G (p.Pro3503=)
c.10431T>G (p.Pro3477=)
8g.76864340T=CA1795296570ZFHX4c.10626T= (p.Pro3542=)
c.10548T= (p.Pro3516=)
c.10509T= (p.Pro3503=)
c.10431T= (p.Pro3477=)
8g.76864341T>ACA371531730ZFHX4c.10627T>A (p.Ser3543Thr)
c.10549T>A (p.Ser3517Thr)
c.10510T>A (p.Ser3504Thr)
c.10432T>A (p.Ser3478Thr)
8g.76864341T>CCA371531731ZFHX4c.10627T>C (p.Ser3543Pro)
c.10549T>C (p.Ser3517Pro)
c.10510T>C (p.Ser3504Pro)
c.10432T>C (p.Ser3478Pro)
8g.76864341T>GCA371531732ZFHX4c.10627T>G (p.Ser3543Ala)
c.10549T>G (p.Ser3517Ala)
c.10510T>G (p.Ser3504Ala)
c.10432T>G (p.Ser3478Ala)
8g.76864342C>ACA371531733ZFHX4c.10628C>A (p.Ser3543Tyr)
c.10550C>A (p.Ser3517Tyr)
c.10511C>A (p.Ser3504Tyr)
c.10433C>A (p.Ser3478Tyr)
 dbSNP gnomAD v3 gnomAD v4
8g.76864342C=CA1795296571ZFHX4c.10628C= (p.Ser3543=)
c.10550C= (p.Ser3517=)
c.10511C= (p.Ser3504=)
c.10433C= (p.Ser3478=)
8g.76864342C>GCA371531734ZFHX4c.10628C>G (p.Ser3543Cys)
c.10550C>G (p.Ser3517Cys)
c.10511C>G (p.Ser3504Cys)
c.10433C>G (p.Ser3478Cys)
8g.76864342C>TCA4788573ZFHX4c.10628C>T (p.Ser3543Phe)
c.10550C>T (p.Ser3517Phe)
c.10511C>T (p.Ser3504Phe)
c.10433C>T (p.Ser3478Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.76864343T>ACA461770890ZFHX4c.10629T>A (p.Ser3543=)
c.10551T>A (p.Ser3517=)
c.10512T>A (p.Ser3504=)
c.10434T>A (p.Ser3478=)
8g.76864343T>CCA461770892ZFHX4c.10629T>C (p.Ser3543=)
c.10551T>C (p.Ser3517=)
c.10512T>C (p.Ser3504=)
c.10434T>C (p.Ser3478=)
8g.76864343T>GCA461770893ZFHX4c.10629T>G (p.Ser3543=)
c.10551T>G (p.Ser3517=)
c.10512T>G (p.Ser3504=)
c.10434T>G (p.Ser3478=)
8g.76864344T>ACA371531737ZFHX4c.10630T>A (p.Ser3544Thr)
c.10552T>A (p.Ser3518Thr)
c.10513T>A (p.Ser3505Thr)
c.10435T>A (p.Ser3479Thr)
8g.76864344T>CCA371531735ZFHX4c.10630T>C (p.Ser3544Pro)
c.10552T>C (p.Ser3518Pro)
c.10513T>C (p.Ser3505Pro)
c.10435T>C (p.Ser3479Pro)
8g.76864344T>GCA371531736ZFHX4c.10630T>G (p.Ser3544Ala)
c.10552T>G (p.Ser3518Ala)
c.10513T>G (p.Ser3505Ala)
c.10435T>G (p.Ser3479Ala)
8g.76864344_76864347delinsTCTCCA1795296572ZFHX4c.10630_10633delinsTCTC (p.Ser3544=)
c.10552_10555delinsTCTC (p.Ser3518=)
c.10513_10516delinsTCTC (p.Ser3505=)
c.10435_10438delinsTCTC (p.Ser3479=)
8g.76864345C>ACA371531738ZFHX4c.10631C>A (p.Ser3544Tyr)
c.10553C>A (p.Ser3518Tyr)
c.10514C>A (p.Ser3505Tyr)
c.10436C>A (p.Ser3479Tyr)
8g.76864345C=CA1795296573ZFHX4c.10631C= (p.Ser3544=)
c.10553C= (p.Ser3518=)
c.10514C= (p.Ser3505=)
c.10436C= (p.Ser3479=)
8g.76864345C>GCA371531739ZFHX4c.10631C>G (p.Ser3544Cys)
c.10553C>G (p.Ser3518Cys)
c.10514C>G (p.Ser3505Cys)
c.10436C>G (p.Ser3479Cys)
8g.76864345C>TCA179376032ZFHX4c.10631C>T (p.Ser3544Phe)
c.10553C>T (p.Ser3518Phe)
c.10514C>T (p.Ser3505Phe)
c.10436C>T (p.Ser3479Phe)
 dbSNP COSMIC
8g.76864350_76864352delCA4788574ZFHX4c.10636_10638del (p.Pro3546del)
c.10558_10560del (p.Pro3520del)
c.10519_10521del (p.Pro3507del)
c.10441_10443del (p.Pro3481del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.76864346T>ACA461770895ZFHX4c.10632T>A (p.Ser3544=)
c.10554T>A (p.Ser3518=)
c.10515T>A (p.Ser3505=)
c.10437T>A (p.Ser3479=)
8g.76864346T>CCA461770896ZFHX4c.10632T>C (p.Ser3544=)
c.10554T>C (p.Ser3518=)
c.10515T>C (p.Ser3505=)
c.10437T>C (p.Ser3479=)
 COSMIC
8g.76864346T>GCA461770897ZFHX4c.10632T>G (p.Ser3544=)
c.10554T>G (p.Ser3518=)
c.10515T>G (p.Ser3505=)
c.10437T>G (p.Ser3479=)
8g.76864347C>ACA371531740ZFHX4c.10633C>A (p.Pro3545Thr)
c.10555C>A (p.Pro3519Thr)
c.10516C>A (p.Pro3506Thr)
c.10438C>A (p.Pro3480Thr)
 COSMIC COSMIC
8g.76864347C>GCA371531741ZFHX4c.10633C>G (p.Pro3545Ala)
c.10555C>G (p.Pro3519Ala)
c.10516C>G (p.Pro3506Ala)
c.10438C>G (p.Pro3480Ala)
8g.76864347C>TCA371531742ZFHX4c.10633C>T (p.Pro3545Ser)
c.10555C>T (p.Pro3519Ser)
c.10516C>T (p.Pro3506Ser)
c.10438C>T (p.Pro3480Ser)
 gnomAD v4 COSMIC COSMIC
8g.76864348C>ACA371531743ZFHX4c.10634C>A (p.Pro3545His)
c.10556C>A (p.Pro3519His)
c.10517C>A (p.Pro3506His)
c.10439C>A (p.Pro3480His)
8g.76864348C=CA1795296574ZFHX4c.10634C= (p.Pro3545=)
c.10556C= (p.Pro3519=)
c.10517C= (p.Pro3506=)
c.10439C= (p.Pro3480=)
8g.76864348C>GCA371531744ZFHX4c.10634C>G (p.Pro3545Arg)
c.10556C>G (p.Pro3519Arg)
c.10517C>G (p.Pro3506Arg)
c.10439C>G (p.Pro3480Arg)
8g.76864348C>TCA4788575ZFHX4c.10634C>T (p.Pro3545Leu)
c.10556C>T (p.Pro3519Leu)
c.10517C>T (p.Pro3506Leu)
c.10439C>T (p.Pro3480Leu)
 dbSNP ExAC gnomAD v4
8g.76864349T>ACA461770904ZFHX4c.10635T>A (p.Pro3545=)
c.10557T>A (p.Pro3519=)
c.10518T>A (p.Pro3506=)
c.10440T>A (p.Pro3480=)
 gnomAD v4
8g.76864349T>CCA461770903ZFHX4c.10635T>C (p.Pro3545=)
c.10557T>C (p.Pro3519=)
c.10518T>C (p.Pro3506=)
c.10440T>C (p.Pro3480=)
8g.76864349T>GCA461770902ZFHX4c.10635T>G (p.Pro3545=)
c.10557T>G (p.Pro3519=)
c.10518T>G (p.Pro3506=)
c.10440T>G (p.Pro3480=)
8g.76864350C>ACA371531745ZFHX4c.10636C>A (p.Pro3546Thr)
c.10558C>A (p.Pro3520Thr)
c.10519C>A (p.Pro3507Thr)
c.10441C>A (p.Pro3481Thr)
8g.76864350C=CA1795296575ZFHX4c.10636C= (p.Pro3546=)
c.10558C= (p.Pro3520=)
c.10519C= (p.Pro3507=)
c.10441C= (p.Pro3481=)
8g.76864350C>GCA371531746ZFHX4c.10636C>G (p.Pro3546Ala)
c.10558C>G (p.Pro3520Ala)
c.10519C>G (p.Pro3507Ala)
c.10441C>G (p.Pro3481Ala)
8g.76864350C>TCA4788576ZFHX4c.10636C>T (p.Pro3546Ser)
c.10558C>T (p.Pro3520Ser)
c.10519C>T (p.Pro3507Ser)
c.10441C>T (p.Pro3481Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.76864351C>ACA371531747ZFHX4c.10637C>A (p.Pro3546His)
c.10559C>A (p.Pro3520His)
c.10520C>A (p.Pro3507His)
c.10442C>A (p.Pro3481His)
 COSMIC COSMIC
8g.76864351C=CA1795296576ZFHX4c.10637C= (p.Pro3546=)
c.10559C= (p.Pro3520=)
c.10520C= (p.Pro3507=)
c.10442C= (p.Pro3481=)
8g.76864351C>GCA371531748ZFHX4c.10637C>G (p.Pro3546Arg)
c.10559C>G (p.Pro3520Arg)
c.10520C>G (p.Pro3507Arg)
c.10442C>G (p.Pro3481Arg)
8g.76864351C>TCA4788577ZFHX4c.10637C>T (p.Pro3546Leu)
c.10559C>T (p.Pro3520Leu)
c.10520C>T (p.Pro3507Leu)
c.10442C>T (p.Pro3481Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.76864352T>ACA461770909ZFHX4c.10638T>A (p.Pro3546=)
c.10560T>A (p.Pro3520=)
c.10521T>A (p.Pro3507=)
c.10443T>A (p.Pro3481=)
8g.76864352T>CCA461770910ZFHX4c.10638T>C (p.Pro3546=)
c.10560T>C (p.Pro3520=)
c.10521T>C (p.Pro3507=)
c.10443T>C (p.Pro3481=)
8g.76864352T>GCA461770911ZFHX4c.10638T>G (p.Pro3546=)
c.10560T>G (p.Pro3520=)
c.10521T>G (p.Pro3507=)
c.10443T>G (p.Pro3481=)
8g.76864353T>ACA371531749ZFHX4c.10639T>A (p.Ser3547Thr)
c.10561T>A (p.Ser3521Thr)
c.10522T>A (p.Ser3508Thr)
c.10444T>A (p.Ser3482Thr)
8g.76864353T>CCA371531750ZFHX4c.10639T>C (p.Ser3547Pro)
c.10561T>C (p.Ser3521Pro)
c.10522T>C (p.Ser3508Pro)
c.10444T>C (p.Ser3482Pro)
8g.76864353T>GCA371531751ZFHX4c.10639T>G (p.Ser3547Ala)
c.10561T>G (p.Ser3521Ala)
c.10522T>G (p.Ser3508Ala)
c.10444T>G (p.Ser3482Ala)
8g.76864354C>ACA371531752ZFHX4c.10640C>A (p.Ser3547Tyr)
c.10562C>A (p.Ser3521Tyr)
c.10523C>A (p.Ser3508Tyr)
c.10445C>A (p.Ser3482Tyr)
8g.76864354C=CA1795296577ZFHX4c.10640C= (p.Ser3547=)
c.10562C= (p.Ser3521=)
c.10523C= (p.Ser3508=)
c.10445C= (p.Ser3482=)
8g.76864354C>GCA179376048ZFHX4c.10640C>G (p.Ser3547Cys)
c.10562C>G (p.Ser3521Cys)
c.10523C>G (p.Ser3508Cys)
c.10445C>G (p.Ser3482Cys)
 dbSNP gnomAD v2 gnomAD v4
8g.76864354C>TCA371531753ZFHX4c.10640C>T (p.Ser3547Phe)
c.10562C>T (p.Ser3521Phe)
c.10523C>T (p.Ser3508Phe)
c.10445C>T (p.Ser3482Phe)
8g.76864355C>ACA461770912ZFHX4c.10641C>A (p.Ser3547=)
c.10563C>A (p.Ser3521=)
c.10524C>A (p.Ser3508=)
c.10446C>A (p.Ser3482=)
 gnomAD v4
8g.76864355C>GCA461770914ZFHX4c.10641C>G (p.Ser3547=)
c.10563C>G (p.Ser3521=)
c.10524C>G (p.Ser3508=)
c.10446C>G (p.Ser3482=)
8g.76864355C>TCA461770913ZFHX4c.10641C>T (p.Ser3547=)
c.10563C>T (p.Ser3521=)
c.10524C>T (p.Ser3508=)
c.10446C>T (p.Ser3482=)
 gnomAD v4
8g.76864356C>ACA371531754ZFHX4c.10642C>A (p.Leu3548Ile)
c.10564C>A (p.Leu3522Ile)
c.10525C>A (p.Leu3509Ile)
c.10447C>A (p.Leu3483Ile)
8g.76864356C=CA1795296578ZFHX4c.10642C= (p.Leu3548=)
c.10564C= (p.Leu3522=)
c.10525C= (p.Leu3509=)
c.10447C= (p.Leu3483=)
8g.76864356C>GCA371531755ZFHX4c.10642C>G (p.Leu3548Val)
c.10564C>G (p.Leu3522Val)
c.10525C>G (p.Leu3509Val)
c.10447C>G (p.Leu3483Val)
8g.76864356C>TCA179376050ZFHX4c.10642C>T (p.Leu3548Phe)
c.10564C>T (p.Leu3522Phe)
c.10525C>T (p.Leu3509Phe)
c.10447C>T (p.Leu3483Phe)
 dbSNP gnomAD v4
8g.76864357T>ACA371531756ZFHX4c.10643T>A (p.Leu3548His)
c.10565T>A (p.Leu3522His)
c.10526T>A (p.Leu3509His)
c.10448T>A (p.Leu3483His)
8g.76864357T>CCA371531757ZFHX4c.10643T>C (p.Leu3548Pro)
c.10565T>C (p.Leu3522Pro)
c.10526T>C (p.Leu3509Pro)
c.10448T>C (p.Leu3483Pro)
8g.76864357T>GCA371531758ZFHX4c.10643T>G (p.Leu3548Arg)
c.10565T>G (p.Leu3522Arg)
c.10526T>G (p.Leu3509Arg)
c.10448T>G (p.Leu3483Arg)
8g.76864358T>ACA461770916ZFHX4c.10644T>A (p.Leu3548=)
c.10566T>A (p.Leu3522=)
c.10527T>A (p.Leu3509=)
c.10449T>A (p.Leu3483=)
8g.76864358T>CCA461770917ZFHX4c.10644T>C (p.Leu3548=)
c.10566T>C (p.Leu3522=)
c.10527T>C (p.Leu3509=)
c.10449T>C (p.Leu3483=)
8g.76864358T>GCA461770919ZFHX4c.10644T>G (p.Leu3548=)
c.10566T>G (p.Leu3522=)
c.10527T>G (p.Leu3509=)
c.10449T>G (p.Leu3483=)
8g.76864359T>ACA371531760ZFHX4c.10645T>A (p.Ser3549Thr)
c.10567T>A (p.Ser3523Thr)
c.10528T>A (p.Ser3510Thr)
c.10450T>A (p.Ser3484Thr)
8g.76864359T>CCA371531761ZFHX4c.10645T>C (p.Ser3549Pro)
c.10567T>C (p.Ser3523Pro)
c.10528T>C (p.Ser3510Pro)
c.10450T>C (p.Ser3484Pro)
 dbSNP gnomAD v4
8g.76864359T>GCA371531759ZFHX4c.10645T>G (p.Ser3549Ala)
c.10567T>G (p.Ser3523Ala)
c.10528T>G (p.Ser3510Ala)
c.10450T>G (p.Ser3484Ala)
8g.76864359T=CA1795296579ZFHX4c.10645T= (p.Ser3549=)
c.10567T= (p.Ser3523=)
c.10528T= (p.Ser3510=)
c.10450T= (p.Ser3484=)
8g.76864360C>ACA371531762ZFHX4c.10646C>A (p.Ser3549Tyr)
c.10568C>A (p.Ser3523Tyr)
c.10529C>A (p.Ser3510Tyr)
c.10451C>A (p.Ser3484Tyr)
8g.76864360C=CA1795296580ZFHX4c.10646C= (p.Ser3549=)
c.10568C= (p.Ser3523=)
c.10529C= (p.Ser3510=)
c.10451C= (p.Ser3484=)
8g.76864360C>GCA371531763ZFHX4c.10646C>G (p.Ser3549Cys)
c.10568C>G (p.Ser3523Cys)
c.10529C>G (p.Ser3510Cys)
c.10451C>G (p.Ser3484Cys)
 dbSNP gnomAD v4
8g.76864360C>TCA371531764ZFHX4c.10646C>T (p.Ser3549Phe)
c.10568C>T (p.Ser3523Phe)
c.10529C>T (p.Ser3510Phe)
c.10451C>T (p.Ser3484Phe)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
8g.76864361C>ACA461770922ZFHX4c.10647C>A (p.Ser3549=)
c.10569C>A (p.Ser3523=)
c.10530C>A (p.Ser3510=)
c.10452C>A (p.Ser3484=)
8g.76864361C>GCA461770925ZFHX4c.10647C>G (p.Ser3549=)
c.10569C>G (p.Ser3523=)
c.10530C>G (p.Ser3510=)
c.10452C>G (p.Ser3484=)
8g.76864361C>TCA461770923ZFHX4c.10647C>T (p.Ser3549=)
c.10569C>T (p.Ser3523=)
c.10530C>T (p.Ser3510=)
c.10452C>T (p.Ser3484=)
8g.76864362T>ACA371531765ZFHX4c.10648T>A (p.Leu3550Met)
c.10570T>A (p.Leu3524Met)
c.10531T>A (p.Leu3511Met)
c.10453T>A (p.Leu3485Met)
8g.76864362T>CCA461770927ZFHX4c.10648T>C (p.Leu3550=)
c.10570T>C (p.Leu3524=)
c.10531T>C (p.Leu3511=)
c.10453T>C (p.Leu3485=)
8g.76864362T>GCA371531766ZFHX4c.10648T>G (p.Leu3550Val)
c.10570T>G (p.Leu3524Val)
c.10531T>G (p.Leu3511Val)
c.10453T>G (p.Leu3485Val)
8g.76864363T>ACA371531769ZFHX4c.10649T>A (p.Leu3550Ter)
c.10571T>A (p.Leu3524Ter)
c.10532T>A (p.Leu3511Ter)
c.10454T>A (p.Leu3485Ter)
8g.76864363T>CCA371531767ZFHX4c.10649T>C (p.Leu3550Ser)
c.10571T>C (p.Leu3524Ser)
c.10532T>C (p.Leu3511Ser)
c.10454T>C (p.Leu3485Ser)
8g.76864363T>GCA371531768ZFHX4c.10649T>G (p.Leu3550Trp)
c.10571T>G (p.Leu3524Trp)
c.10532T>G (p.Leu3511Trp)
c.10454T>G (p.Leu3485Trp)
 dbSNP
8g.76864363T=CA1795296581ZFHX4c.10649T= (p.Leu3550=)
c.10571T= (p.Leu3524=)
c.10532T= (p.Leu3511=)
c.10454T= (p.Leu3485=)
8g.76864364G>ACA461770931ZFHX4c.10650G>A (p.Leu3550=)
c.10572G>A (p.Leu3524=)
c.10533G>A (p.Leu3511=)
c.10455G>A (p.Leu3485=)
8g.76864364G>CCA371531770ZFHX4c.10650G>C (p.Leu3550Phe)
c.10572G>C (p.Leu3524Phe)
c.10533G>C (p.Leu3511Phe)
c.10455G>C (p.Leu3485Phe)
8g.76864364G>TCA371531771ZFHX4c.10650G>T (p.Leu3550Phe)
c.10572G>T (p.Leu3524Phe)
c.10533G>T (p.Leu3511Phe)
c.10455G>T (p.Leu3485Phe)
 gnomAD v4
8g.76864365C>ACA371531772ZFHX4c.10651C>A (p.Pro3551Thr)
c.10573C>A (p.Pro3525Thr)
c.10534C>A (p.Pro3512Thr)
c.10456C>A (p.Pro3486Thr)
8g.76864365C>GCA371531773ZFHX4c.10651C>G (p.Pro3551Ala)
c.10573C>G (p.Pro3525Ala)
c.10534C>G (p.Pro3512Ala)
c.10456C>G (p.Pro3486Ala)
8g.76864365C>TCA371531774ZFHX4c.10651C>T (p.Pro3551Ser)
c.10573C>T (p.Pro3525Ser)
c.10534C>T (p.Pro3512Ser)
c.10456C>T (p.Pro3486Ser)
 gnomAD v4
8g.76864366C>ACA371531777ZFHX4c.10652C>A (p.Pro3551His)
c.10574C>A (p.Pro3525His)
c.10535C>A (p.Pro3512His)
c.10457C>A (p.Pro3486His)
8g.76864366C>GCA371531775ZFHX4c.10652C>G (p.Pro3551Arg)
c.10574C>G (p.Pro3525Arg)
c.10535C>G (p.Pro3512Arg)
c.10457C>G (p.Pro3486Arg)
8g.76864366C>TCA371531776ZFHX4c.10652C>T (p.Pro3551Leu)
c.10574C>T (p.Pro3525Leu)
c.10535C>T (p.Pro3512Leu)
c.10457C>T (p.Pro3486Leu)
 gnomAD v4
8g.76864367T>ACA461770936ZFHX4c.10653T>A (p.Pro3551=)
c.10575T>A (p.Pro3525=)
c.10536T>A (p.Pro3512=)
c.10458T>A (p.Pro3486=)
8g.76864367T>CCA461770937ZFHX4c.10653T>C (p.Pro3551=)
c.10575T>C (p.Pro3525=)
c.10536T>C (p.Pro3512=)
c.10458T>C (p.Pro3486=)
8g.76864367T>GCA461770938ZFHX4c.10653T>G (p.Pro3551=)
c.10575T>G (p.Pro3525=)
c.10536T>G (p.Pro3512=)
c.10458T>G (p.Pro3486=)
8g.76864367T=CA1795296582ZFHX4c.10653T= (p.Pro3551=)
c.10575T= (p.Pro3525=)
c.10536T= (p.Pro3512=)
c.10458T= (p.Pro3486=)
8g.76864367_76864368insACAGTTATAATTAGACA1795296583ZFHX4c.10653_10654insACAGTTATAATTAGA (p.Pro3551_Ser3552insThrValIleIleArg)
c.10575_10576insACAGTTATAATTAGA (p.Pro3525_Ser3526insThrValIleIleArg)
c.10536_10537insACAGTTATAATTAGA (p.Pro3512_Ser3513insThrValIleIleArg)
c.10458_10459insACAGTTATAATTAGA (p.Pro3486_Ser3487insThrValIleIleArg)
 dbSNP
8g.76864368T>ACA371531778ZFHX4c.10654T>A (p.Ser3552Thr)
c.10576T>A (p.Ser3526Thr)
c.10537T>A (p.Ser3513Thr)
c.10459T>A (p.Ser3487Thr)
8g.76864368T>CCA371531780ZFHX4c.10654T>C (p.Ser3552Pro)
c.10576T>C (p.Ser3526Pro)
c.10537T>C (p.Ser3513Pro)
c.10459T>C (p.Ser3487Pro)
8g.76864368T>GCA371531779ZFHX4c.10654T>G (p.Ser3552Ala)
c.10576T>G (p.Ser3526Ala)
c.10537T>G (p.Ser3513Ala)
c.10459T>G (p.Ser3487Ala)
8g.76864369C>ACA371531781ZFHX4c.10655C>A (p.Ser3552Ter)
c.10577C>A (p.Ser3526Ter)
c.10538C>A (p.Ser3513Ter)
c.10460C>A (p.Ser3487Ter)
8g.76864369C=CA1795296584ZFHX4c.10655C= (p.Ser3552=)
c.10577C= (p.Ser3526=)
c.10538C= (p.Ser3513=)
c.10460C= (p.Ser3487=)
8g.76864369C>GCA371531782ZFHX4c.10655C>G (p.Ser3552Ter)
c.10577C>G (p.Ser3526Ter)
c.10538C>G (p.Ser3513Ter)
c.10460C>G (p.Ser3487Ter)
8g.76864369C>TCA4788578ZFHX4c.10655C>T (p.Ser3552Leu)
c.10577C>T (p.Ser3526Leu)
c.10538C>T (p.Ser3513Leu)
c.10460C>T (p.Ser3487Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.76864370A>CCA461770948ZFHX4c.10656A>C (p.Ser3552=)
c.10578A>C (p.Ser3526=)
c.10539A>C (p.Ser3513=)
c.10461A>C (p.Ser3487=)
8g.76864370A>GCA461770941ZFHX4c.10656A>G (p.Ser3552=)
c.10578A>G (p.Ser3526=)
c.10539A>G (p.Ser3513=)
c.10461A>G (p.Ser3487=)
 gnomAD v4
8g.76864370A>TCA461770947ZFHX4c.10656A>T (p.Ser3552=)
c.10578A>T (p.Ser3526=)
c.10539A>T (p.Ser3513=)
c.10461A>T (p.Ser3487=)
 dbSNP
8g.76864371A=CA1795296585ZFHX4c.10657A= (p.Thr3553=)
c.10579A= (p.Thr3527=)
c.10540A= (p.Thr3514=)
c.10462A= (p.Thr3488=)
8g.76864371A>CCA4788579ZFHX4c.10657A>C (p.Thr3553Pro)
c.10579A>C (p.Thr3527Pro)
c.10540A>C (p.Thr3514Pro)
c.10462A>C (p.Thr3488Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.76864371A>GCA371531783ZFHX4c.10657A>G (p.Thr3553Ala)
c.10579A>G (p.Thr3527Ala)
c.10540A>G (p.Thr3514Ala)
c.10462A>G (p.Thr3488Ala)
 dbSNP gnomAD v2 gnomAD v4
8g.76864371A>TCA371531784ZFHX4c.10657A>T (p.Thr3553Ser)
c.10579A>T (p.Thr3527Ser)
c.10540A>T (p.Thr3514Ser)
c.10462A>T (p.Thr3488Ser)
8g.76864372C>ACA371531785ZFHX4c.10658C>A (p.Thr3553Lys)
c.10580C>A (p.Thr3527Lys)
c.10541C>A (p.Thr3514Lys)
c.10463C>A (p.Thr3488Lys)
8g.76864372C=CA1795296586ZFHX4c.10658C= (p.Thr3553=)
c.10580C= (p.Thr3527=)
c.10541C= (p.Thr3514=)
c.10463C= (p.Thr3488=)
8g.76864372C>GCA371531786ZFHX4c.10658C>G (p.Thr3553Arg)
c.10580C>G (p.Thr3527Arg)
c.10541C>G (p.Thr3514Arg)
c.10463C>G (p.Thr3488Arg)
8g.76864372C>TCA4788580ZFHX4c.10658C>T (p.Thr3553Met)
c.10580C>T (p.Thr3527Met)
c.10541C>T (p.Thr3514Met)
c.10463C>T (p.Thr3488Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.76864373G>ACA4788581ZFHX4c.10659G>A (p.Thr3553=)
c.10581G>A (p.Thr3527=)
c.10542G>A (p.Thr3514=)
c.10464G>A (p.Thr3488=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.76864373G>CCA461770953ZFHX4c.10659G>C (p.Thr3553=)
c.10581G>C (p.Thr3527=)
c.10542G>C (p.Thr3514=)
c.10464G>C (p.Thr3488=)
8g.76864373G=CA1795296587ZFHX4c.10659G= (p.Thr3553=)
c.10581G= (p.Thr3527=)
c.10542G= (p.Thr3514=)
c.10464G= (p.Thr3488=)
8g.76864373G>TCA4788582ZFHX4c.10659G>T (p.Thr3553=)
c.10581G>T (p.Thr3527=)
c.10542G>T (p.Thr3514=)
c.10464G>T (p.Thr3488=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.76864374G>ACA371531789ZFHX4c.10660G>A (p.Val3554Ile)
c.10582G>A (p.Val3528Ile)
c.10543G>A (p.Val3515Ile)
c.10465G>A (p.Val3489Ile)
8g.76864374G>CCA371531788ZFHX4c.10660G>C (p.Val3554Leu)
c.10582G>C (p.Val3528Leu)
c.10543G>C (p.Val3515Leu)
c.10465G>C (p.Val3489Leu)
8g.76864374G>TCA371531787ZFHX4c.10660G>T (p.Val3554Phe)
c.10582G>T (p.Val3528Phe)
c.10543G>T (p.Val3515Phe)
c.10465G>T (p.Val3489Phe)
8g.76864375T>ACA371531790ZFHX4c.10661T>A (p.Val3554Asp)
c.10583T>A (p.Val3528Asp)
c.10544T>A (p.Val3515Asp)
c.10466T>A (p.Val3489Asp)
8g.76864375T>CCA371531791ZFHX4c.10661T>C (p.Val3554Ala)
c.10583T>C (p.Val3528Ala)
c.10544T>C (p.Val3515Ala)
c.10466T>C (p.Val3489Ala)
8g.76864375T>GCA371531792ZFHX4c.10661T>G (p.Val3554Gly)
c.10583T>G (p.Val3528Gly)
c.10544T>G (p.Val3515Gly)
c.10466T>G (p.Val3489Gly)
8g.76864376T>ACA461770957ZFHX4c.10662T>A (p.Val3554=)
c.10584T>A (p.Val3528=)
c.10545T>A (p.Val3515=)
c.10467T>A (p.Val3489=)
8g.76864376T>CCA461770958ZFHX4c.10662T>C (p.Val3554=)
c.10584T>C (p.Val3528=)
c.10545T>C (p.Val3515=)
c.10467T>C (p.Val3489=)
8g.76864376T>GCA461770960ZFHX4c.10662T>G (p.Val3554=)
c.10584T>G (p.Val3528=)
c.10545T>G (p.Val3515=)
c.10467T>G (p.Val3489=)
8g.76864377A=CA1795296588ZFHX4c.10663A= (p.Thr3555=)
c.10585A= (p.Thr3529=)
c.10546A= (p.Thr3516=)
c.10468A= (p.Thr3490=)
8g.76864377A>CCA371531793ZFHX4c.10663A>C (p.Thr3555Pro)
c.10585A>C (p.Thr3529Pro)
c.10546A>C (p.Thr3516Pro)
c.10468A>C (p.Thr3490Pro)
8g.76864377A>GCA371531794ZFHX4c.10663A>G (p.Thr3555Ala)
c.10585A>G (p.Thr3529Ala)
c.10546A>G (p.Thr3516Ala)
c.10468A>G (p.Thr3490Ala)
 dbSNP gnomAD v2 gnomAD v4
8g.76864377A>TCA371531795ZFHX4c.10663A>T (p.Thr3555Ser)
c.10585A>T (p.Thr3529Ser)
c.10546A>T (p.Thr3516Ser)
c.10468A>T (p.Thr3490Ser)
8g.76864378C>ACA371531796ZFHX4c.10664C>A (p.Thr3555Asn)
c.10586C>A (p.Thr3529Asn)
c.10547C>A (p.Thr3516Asn)
c.10469C>A (p.Thr3490Asn)
 dbSNP
8g.76864378C=CA1795296589ZFHX4c.10664C= (p.Thr3555=)
c.10586C= (p.Thr3529=)
c.10547C= (p.Thr3516=)
c.10469C= (p.Thr3490=)
8g.76864378C>GCA371531797ZFHX4c.10664C>G (p.Thr3555Ser)
c.10586C>G (p.Thr3529Ser)
c.10547C>G (p.Thr3516Ser)
c.10469C>G (p.Thr3490Ser)
8g.76864378C>TCA371531798ZFHX4c.10664C>T (p.Thr3555Ile)
c.10586C>T (p.Thr3529Ile)
c.10547C>T (p.Thr3516Ile)
c.10469C>T (p.Thr3490Ile)
8g.76864379C>ACA461770963ZFHX4c.10665C>A (p.Thr3555=)
c.10587C>A (p.Thr3529=)
c.10548C>A (p.Thr3516=)
c.10470C>A (p.Thr3490=)
8g.76864379C>GCA461770964ZFHX4c.10665C>G (p.Thr3555=)
c.10587C>G (p.Thr3529=)
c.10548C>G (p.Thr3516=)
c.10470C>G (p.Thr3490=)
 gnomAD v4
8g.76864379C>TCA461770966ZFHX4c.10665C>T (p.Thr3555=)
c.10587C>T (p.Thr3529=)
c.10548C>T (p.Thr3516=)
c.10470C>T (p.Thr3490=)
 gnomAD v4
8g.76864380T>ACA371531799ZFHX4c.10666T>A (p.Ser3556Thr)
c.10588T>A (p.Ser3530Thr)
c.10549T>A (p.Ser3517Thr)
c.10471T>A (p.Ser3491Thr)
8g.76864380T>CCA371531800ZFHX4c.10666T>C (p.Ser3556Pro)
c.10588T>C (p.Ser3530Pro)
c.10549T>C (p.Ser3517Pro)
c.10471T>C (p.Ser3491Pro)
8g.76864380T>GCA371531801ZFHX4c.10666T>G (p.Ser3556Ala)
c.10588T>G (p.Ser3530Ala)
c.10549T>G (p.Ser3517Ala)
c.10471T>G (p.Ser3491Ala)
8g.76864381C>ACA371531804ZFHX4c.10667C>A (p.Ser3556Ter)
c.10589C>A (p.Ser3530Ter)
c.10550C>A (p.Ser3517Ter)
c.10472C>A (p.Ser3491Ter)
 COSMIC COSMIC
8g.76864381C=CA1795296590ZFHX4c.10667C= (p.Ser3556=)
c.10589C= (p.Ser3530=)
c.10550C= (p.Ser3517=)
c.10472C= (p.Ser3491=)
8g.76864381C>GCA371531803ZFHX4c.10667C>G (p.Ser3556Ter)
c.10589C>G (p.Ser3530Ter)
c.10550C>G (p.Ser3517Ter)
c.10472C>G (p.Ser3491Ter)
 dbSNP gnomAD v2 gnomAD v4
8g.76864381C>TCA371531802ZFHX4c.10667C>T (p.Ser3556Leu)
c.10589C>T (p.Ser3530Leu)
c.10550C>T (p.Ser3517Leu)
c.10472C>T (p.Ser3491Leu)
8g.76864382A>CCA461770967ZFHX4c.10668A>C (p.Ser3556=)
c.10590A>C (p.Ser3530=)
c.10551A>C (p.Ser3517=)
c.10473A>C (p.Ser3491=)
8g.76864382A>GCA461770969ZFHX4c.10668A>G (p.Ser3556=)
c.10590A>G (p.Ser3530=)
c.10551A>G (p.Ser3517=)
c.10473A>G (p.Ser3491=)
8g.76864382A>TCA461770972ZFHX4c.10668A>T (p.Ser3556=)
c.10590A>T (p.Ser3530=)
c.10551A>T (p.Ser3517=)
c.10473A>T (p.Ser3491=)
8g.76864383A>CCA371531807ZFHX4c.10669A>C (p.Ser3557Arg)
c.10591A>C (p.Ser3531Arg)
c.10552A>C (p.Ser3518Arg)
c.10474A>C (p.Ser3492Arg)
8g.76864383A>GCA371531805ZFHX4c.10669A>G (p.Ser3557Gly)
c.10591A>G (p.Ser3531Gly)
c.10552A>G (p.Ser3518Gly)
c.10474A>G (p.Ser3492Gly)
8g.76864383A>TCA371531806ZFHX4c.10669A>T (p.Ser3557Cys)
c.10591A>T (p.Ser3531Cys)
c.10552A>T (p.Ser3518Cys)
c.10474A>T (p.Ser3492Cys)
8g.76864384G>ACA371531808ZFHX4c.10670G>A (p.Ser3557Asn)
c.10592G>A (p.Ser3531Asn)
c.10553G>A (p.Ser3518Asn)
c.10475G>A (p.Ser3492Asn)
 gnomAD v4
8g.76864384G>CCA371531809ZFHX4c.10670G>C (p.Ser3557Thr)
c.10592G>C (p.Ser3531Thr)
c.10553G>C (p.Ser3518Thr)
c.10475G>C (p.Ser3492Thr)
8g.76864384G>TCA371531810ZFHX4c.10670G>T (p.Ser3557Ile)
c.10592G>T (p.Ser3531Ile)
c.10553G>T (p.Ser3518Ile)
c.10475G>T (p.Ser3492Ile)
8g.76864385T>ACA371531811ZFHX4c.10671T>A (p.Ser3557Arg)
c.10593T>A (p.Ser3531Arg)
c.10554T>A (p.Ser3518Arg)
c.10476T>A (p.Ser3492Arg)
8g.76864385T>CCA461770976ZFHX4c.10671T>C (p.Ser3557=)
c.10593T>C (p.Ser3531=)
c.10554T>C (p.Ser3518=)
c.10476T>C (p.Ser3492=)
8g.76864385T>GCA371531812ZFHX4c.10671T>G (p.Ser3557Arg)
c.10593T>G (p.Ser3531Arg)
c.10554T>G (p.Ser3518Arg)
c.10476T>G (p.Ser3492Arg)
8g.76864386T>ACA371531813ZFHX4c.10672T>A (p.Leu3558Met)
c.10594T>A (p.Leu3532Met)
c.10555T>A (p.Leu3519Met)
c.10477T>A (p.Leu3493Met)
8g.76864386T>CCA461770977ZFHX4c.10672T>C (p.Leu3558=)
c.10594T>C (p.Leu3532=)
c.10555T>C (p.Leu3519=)
c.10477T>C (p.Leu3493=)
8g.76864386T>GCA371531814ZFHX4c.10672T>G (p.Leu3558Val)
c.10594T>G (p.Leu3532Val)
c.10555T>G (p.Leu3519Val)
c.10477T>G (p.Leu3493Val)
8g.76864387T>ACA371531815ZFHX4c.10673T>A (p.Leu3558Ter)
c.10595T>A (p.Leu3532Ter)
c.10556T>A (p.Leu3519Ter)
c.10478T>A (p.Leu3493Ter)
8g.76864387T>CCA371531816ZFHX4c.10673T>C (p.Leu3558Ser)
c.10595T>C (p.Leu3532Ser)
c.10556T>C (p.Leu3519Ser)
c.10478T>C (p.Leu3493Ser)
8g.76864387T>GCA371531817ZFHX4c.10673T>G (p.Leu3558Trp)
c.10595T>G (p.Leu3532Trp)
c.10556T>G (p.Leu3519Trp)
c.10478T>G (p.Leu3493Trp)
8g.76864388G>ACA461770979ZFHX4c.10674G>A (p.Leu3558=)
c.10596G>A (p.Leu3532=)
c.10557G>A (p.Leu3519=)
c.10479G>A (p.Leu3493=)
8g.76864388G>CCA371531818ZFHX4c.10674G>C (p.Leu3558Phe)
c.10596G>C (p.Leu3532Phe)
c.10557G>C (p.Leu3519Phe)
c.10479G>C (p.Leu3493Phe)
 COSMIC
8g.76864388G>TCA371531819ZFHX4c.10674G>T (p.Leu3558Phe)
c.10596G>T (p.Leu3532Phe)
c.10557G>T (p.Leu3519Phe)
c.10479G>T (p.Leu3493Phe)
8g.76864388_76864397delinsGTGCAGCACCCA1795296591ZFHX4c.10674_10683delinsGTGCAGCACC (p.Leu3558=)
c.10596_10605delinsGTGCAGCACC (p.Leu3532=)
c.10557_10566delinsGTGCAGCACC (p.Leu3519=)
c.10479_10488delinsGTGCAGCACC (p.Leu3493=)
8g.76864389T>ACA371531820ZFHX4c.10675T>A (p.Cys3559Ser)
c.10597T>A (p.Cys3533Ser)
c.10558T>A (p.Cys3520Ser)
c.10480T>A (p.Cys3494Ser)
8g.76864389T>CCA371531822ZFHX4c.10675T>C (p.Cys3559Arg)
c.10597T>C (p.Cys3533Arg)
c.10558T>C (p.Cys3520Arg)
c.10480T>C (p.Cys3494Arg)
8g.76864389T>GCA371531821ZFHX4c.10675T>G (p.Cys3559Gly)
c.10597T>G (p.Cys3533Gly)
c.10558T>G (p.Cys3520Gly)
c.10480T>G (p.Cys3494Gly)
8g.76864390_76864398delCA583367004ZFHX4c.10676_10684del (p.Cys3559_Thr3561del)
c.10598_10606del (p.Cys3533_Thr3535del)
c.10559_10567del (p.Cys3520_Thr3522del)
c.10481_10489del (p.Cys3494_Thr3496del)
 dbSNP gnomAD v2 gnomAD v4
8g.76864390G>ACA371531823ZFHX4c.10676G>A (p.Cys3559Tyr)
c.10598G>A (p.Cys3533Tyr)
c.10559G>A (p.Cys3520Tyr)
c.10481G>A (p.Cys3494Tyr)
 gnomAD v4
8g.76864390G>CCA371531824ZFHX4c.10676G>C (p.Cys3559Ser)
c.10598G>C (p.Cys3533Ser)
c.10559G>C (p.Cys3520Ser)
c.10481G>C (p.Cys3494Ser)
8g.76864390G>TCA371531825ZFHX4c.10676G>T (p.Cys3559Phe)
c.10598G>T (p.Cys3533Phe)
c.10559G>T (p.Cys3520Phe)
c.10481G>T (p.Cys3494Phe)
8g.76864391C>ACA371531826ZFHX4c.10677C>A (p.Cys3559Ter)
c.10599C>A (p.Cys3533Ter)
c.10560C>A (p.Cys3520Ter)
c.10482C>A (p.Cys3494Ter)
8g.76864391C>GCA371531827ZFHX4c.10677C>G (p.Cys3559Trp)
c.10599C>G (p.Cys3533Trp)
c.10560C>G (p.Cys3520Trp)
c.10482C>G (p.Cys3494Trp)
 gnomAD v4
8g.76864391C>TCA461770983ZFHX4c.10677C>T (p.Cys3559=)
c.10599C>T (p.Cys3533=)
c.10560C>T (p.Cys3520=)
c.10482C>T (p.Cys3494=)
 dbSNP gnomAD v4 COSMIC
8g.76864392A=CA1795296592ZFHX4c.10678A= (p.Ser3560=)
c.10600A= (p.Ser3534=)
c.10561A= (p.Ser3521=)
c.10483A= (p.Ser3495=)
8g.76864392A>CCA371531828ZFHX4c.10678A>C (p.Ser3560Arg)
c.10600A>C (p.Ser3534Arg)
c.10561A>C (p.Ser3521Arg)
c.10483A>C (p.Ser3495Arg)
 dbSNP gnomAD v2
8g.76864392A>GCA371531829ZFHX4c.10678A>G (p.Ser3560Gly)
c.10600A>G (p.Ser3534Gly)
c.10561A>G (p.Ser3521Gly)
c.10483A>G (p.Ser3495Gly)
 dbSNP gnomAD v2 gnomAD v4
8g.76864392A>TCA371531830ZFHX4c.10678A>T (p.Ser3560Cys)
c.10600A>T (p.Ser3534Cys)
c.10561A>T (p.Ser3521Cys)
c.10483A>T (p.Ser3495Cys)
8g.76864393G>ACA4788583ZFHX4c.10679G>A (p.Ser3560Asn)
c.10601G>A (p.Ser3534Asn)
c.10562G>A (p.Ser3521Asn)
c.10484G>A (p.Ser3495Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.76864393G>CCA371531831ZFHX4c.10679G>C (p.Ser3560Thr)
c.10601G>C (p.Ser3534Thr)
c.10562G>C (p.Ser3521Thr)
c.10484G>C (p.Ser3495Thr)
8g.76864393G=CA1795296593ZFHX4c.10679G= (p.Ser3560=)
c.10601G= (p.Ser3534=)
c.10562G= (p.Ser3521=)
c.10484G= (p.Ser3495=)
8g.76864393G>TCA371531832ZFHX4c.10679G>T (p.Ser3560Ile)
c.10601G>T (p.Ser3534Ile)
c.10562G>T (p.Ser3521Ile)
c.10484G>T (p.Ser3495Ile)
8g.76864394C>ACA371531833ZFHX4c.10680C>A (p.Ser3560Arg)
c.10602C>A (p.Ser3534Arg)
c.10563C>A (p.Ser3521Arg)
c.10485C>A (p.Ser3495Arg)
8g.76864394C=CA1795296594ZFHX4c.10680C= (p.Ser3560=)
c.10602C= (p.Ser3534=)
c.10563C= (p.Ser3521=)
c.10485C= (p.Ser3495=)
8g.76864394C>GCA371531834ZFHX4c.10680C>G (p.Ser3560Arg)
c.10602C>G (p.Ser3534Arg)
c.10563C>G (p.Ser3521Arg)
c.10485C>G (p.Ser3495Arg)
8g.76864394C>TCA4788584ZFHX4c.10680C>T (p.Ser3560=)
c.10602C>T (p.Ser3534=)
c.10563C>T (p.Ser3521=)
c.10485C>T (p.Ser3495=)
 dbSNP ExAC gnomAD v2
8g.76864395A>CCA371531835ZFHX4c.10681A>C (p.Thr3561Pro)
c.10603A>C (p.Thr3535Pro)
c.10564A>C (p.Thr3522Pro)
c.10486A>C (p.Thr3496Pro)
8g.76864395A>GCA371531837ZFHX4c.10681A>G (p.Thr3561Ala)
c.10603A>G (p.Thr3535Ala)
c.10564A>G (p.Thr3522Ala)
c.10486A>G (p.Thr3496Ala)
8g.76864395A>TCA371531836ZFHX4c.10681A>T (p.Thr3561Ser)
c.10603A>T (p.Thr3535Ser)
c.10564A>T (p.Thr3522Ser)
c.10486A>T (p.Thr3496Ser)
8g.76864396C>ACA371531838ZFHX4c.10682C>A (p.Thr3561Asn)
c.10604C>A (p.Thr3535Asn)
c.10565C>A (p.Thr3522Asn)
c.10487C>A (p.Thr3496Asn)
8g.76864396C>GCA371531840ZFHX4c.10682C>G (p.Thr3561Ser)
c.10604C>G (p.Thr3535Ser)
c.10565C>G (p.Thr3522Ser)
c.10487C>G (p.Thr3496Ser)
8g.76864396C>TCA371531839ZFHX4c.10682C>T (p.Thr3561Ile)
c.10604C>T (p.Thr3535Ile)
c.10565C>T (p.Thr3522Ile)
c.10487C>T (p.Thr3496Ile)
 gnomAD v4
8g.76864397C>ACA461770995ZFHX4c.10683C>A (p.Thr3561=)
c.10605C>A (p.Thr3535=)
c.10566C>A (p.Thr3522=)
c.10488C>A (p.Thr3496=)
8g.76864397C>GCA461770992ZFHX4c.10683C>G (p.Thr3561=)
c.10605C>G (p.Thr3535=)
c.10566C>G (p.Thr3522=)
c.10488C>G (p.Thr3496=)
8g.76864397C>TCA461770996ZFHX4c.10683C>T (p.Thr3561=)
c.10605C>T (p.Thr3535=)
c.10566C>T (p.Thr3522=)
c.10488C>T (p.Thr3496=)
8g.76864398T>ACA371531841ZFHX4c.10684T>A (p.Ser3562Thr)
c.10606T>A (p.Ser3536Thr)
c.10567T>A (p.Ser3523Thr)
c.10489T>A (p.Ser3497Thr)
8g.76864398T>CCA371531842ZFHX4c.10684T>C (p.Ser3562Pro)
c.10606T>C (p.Ser3536Pro)
c.10567T>C (p.Ser3523Pro)
c.10489T>C (p.Ser3497Pro)
8g.76864398T>GCA179376063ZFHX4c.10684T>G (p.Ser3562Ala)
c.10606T>G (p.Ser3536Ala)
c.10567T>G (p.Ser3523Ala)
c.10489T>G (p.Ser3497Ala)
 dbSNP gnomAD v3 gnomAD v4
8g.76864398T=CA1795296595ZFHX4c.10684T= (p.Ser3562=)
c.10606T= (p.Ser3536=)
c.10567T= (p.Ser3523=)
c.10489T= (p.Ser3497=)
8g.76864399C>ACA371531843ZFHX4c.10685C>A (p.Ser3562Ter)
c.10607C>A (p.Ser3536Ter)
c.10568C>A (p.Ser3523Ter)
c.10490C>A (p.Ser3497Ter)
8g.76864399C>GCA371531844ZFHX4c.10685C>G (p.Ser3562Ter)
c.10607C>G (p.Ser3536Ter)
c.10568C>G (p.Ser3523Ter)
c.10490C>G (p.Ser3497Ter)
8g.76864399C>TCA371531845ZFHX4c.10685C>T (p.Ser3562Leu)
c.10607C>T (p.Ser3536Leu)
c.10568C>T (p.Ser3523Leu)
c.10490C>T (p.Ser3497Leu)
8g.76864400A>CCA461770998ZFHX4c.10686A>C (p.Ser3562=)
c.10608A>C (p.Ser3536=)
c.10569A>C (p.Ser3523=)
c.10491A>C (p.Ser3497=)
8g.76864400A>GCA461770999ZFHX4c.10686A>G (p.Ser3562=)
c.10608A>G (p.Ser3536=)
c.10569A>G (p.Ser3523=)
c.10491A>G (p.Ser3497=)
8g.76864400A>TCA461771001ZFHX4c.10686A>T (p.Ser3562=)
c.10608A>T (p.Ser3536=)
c.10569A>T (p.Ser3523=)
c.10491A>T (p.Ser3497=)
8g.76864401G>ACA371531846ZFHX4c.10687G>A (p.Gly3563Arg)
c.10609G>A (p.Gly3537Arg)
c.10570G>A (p.Gly3524Arg)
c.10492G>A (p.Gly3498Arg)
 dbSNP gnomAD v4
8g.76864401G>CCA371531847ZFHX4c.10687G>C (p.Gly3563Arg)
c.10609G>C (p.Gly3537Arg)
c.10570G>C (p.Gly3524Arg)
c.10492G>C (p.Gly3498Arg)
 dbSNP gnomAD v4
8g.76864401G=CA1795296596ZFHX4c.10687G= (p.Gly3563=)
c.10609G= (p.Gly3537=)
c.10570G= (p.Gly3524=)
c.10492G= (p.Gly3498=)
8g.76864401G>TCA371531848ZFHX4c.10687G>T (p.Gly3563Trp)
c.10609G>T (p.Gly3537Trp)
c.10570G>T (p.Gly3524Trp)
c.10492G>T (p.Gly3498Trp)

Number of alleles fetched