Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.130592944_130592950dupCA2661125015CFC1c.606_612dup (p.Ser205GlyfsTer?)
c.491_497dup (p.Pro167ValfsTer22)
c.381_387dup (p.Ser130GlyfsTer?)
 gnomAD v4
2g.130592944_130592950delCA2661125016CFC1c.606_612del (p.Val203ProfsTer26)
c.491_497del (p.Trp164PhefsTer?)
c.381_387del (p.Val128ProfsTer26)
 gnomAD v4
2g.130592947G>ACA348502365CFC1c.602C>T (p.Ser201Phe)
c.487C>T (p.Pro163Ser)
c.377C>T (p.Ser126Phe)
2g.130592947G>CCA348502366CFC1c.602C>G (p.Ser201Cys)
c.487C>G (p.Pro163Ala)
c.377C>G (p.Ser126Cys)
 dbSNP gnomAD v3 gnomAD v4
2g.130592947G=CA1288363465CFC1c.602C= (p.Ser201=)
c.487C= (p.Pro163=)
c.377C= (p.Ser126=)
2g.130592947G>TCA348502367CFC1c.602C>A (p.Ser201Tyr)
c.487C>A (p.Pro163Thr)
c.377C>A (p.Ser126Tyr)
2g.130592948A=CA1288363466CFC1c.601T= (p.Ser201=)
c.486T= (p.Gly162=)
c.376T= (p.Ser126=)
2g.130592948A>CCA348502368CFC1c.601T>G (p.Ser201Ala)
c.486T>G (p.Gly162=)
c.376T>G (p.Ser126Ala)
 dbSNP gnomAD v4
2g.130592948A>GCA348502369CFC1c.601T>C (p.Ser201Pro)
c.486T>C (p.Gly162=)
c.376T>C (p.Ser126Pro)
2g.130592948A>TCA348502370CFC1c.601T>A (p.Ser201Thr)
c.486T>A (p.Gly162=)
c.376T>A (p.Ser126Thr)
2g.130592949C>ACA290057CFC1c.600G>T (p.Arg200=)
c.485G>T (p.Gly162Val)
c.375G>T (p.Arg125=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.130592949C=CA1288363467CFC1c.600G= (p.Arg200=)
c.485G= (p.Gly162=)
c.375G= (p.Arg125=)
2g.130592949C>GCA348502371CFC1c.600G>C (p.Arg200=)
c.485G>C (p.Gly162Ala)
c.375G>C (p.Arg125=)
2g.130592949C>TCA348502372CFC1c.600G>A (p.Arg200=)
c.485G>A (p.Gly162Asp)
c.375G>A (p.Arg125=)
 gnomAD v4
2g.130592950C>ACA348502375CFC1c.599G>T (p.Arg200Leu)
c.484G>T (p.Gly162Cys)
c.374G>T (p.Arg125Leu)
2g.130592950C=CA1288363468CFC1c.599G= (p.Arg200=)
c.484G= (p.Gly162=)
c.374G= (p.Arg125=)
2g.130592950C>GCA348502374CFC1c.599G>C (p.Arg200Pro)
c.484G>C (p.Gly162Arg)
c.374G>C (p.Arg125Pro)
 dbSNP gnomAD v3 gnomAD v4
2g.130592950C>TCA348502373CFC1c.599G>A (p.Arg200Gln)
c.484G>A (p.Gly162Ser)
c.374G>A (p.Arg125Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.130592951G>ACA348502377CFC1c.598C>T (p.Arg200Trp)
c.483C>T (p.Leu161=)
c.373C>T (p.Arg125Trp)
 dbSNP gnomAD v3 gnomAD v4
2g.130592951G>CCA348502376CFC1c.598C>G (p.Arg200Gly)
c.483C>G (p.Leu161=)
c.373C>G (p.Arg125Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.130592951G=CA1288363469CFC1c.598C= (p.Arg200=)
c.483C= (p.Leu161=)
c.373C= (p.Arg125=)
2g.130592951G>TCA428885205CFC1c.598C>A (p.Arg200=)
c.483C>A (p.Leu161=)
c.373C>A (p.Arg125=)
 gnomAD v4
2g.130592952A=CA1288363470CFC1c.597T= (p.Pro199=)
c.482T= (p.Leu161=)
c.372T= (p.Pro124=)
2g.130592952A>CCA348502378CFC1c.597T>G (p.Pro199=)
c.482T>G (p.Leu161Arg)
c.372T>G (p.Pro124=)
 dbSNP gnomAD v2 gnomAD v4
2g.130592952A>GCA348502379CFC1c.597T>C (p.Pro199=)
c.482T>C (p.Leu161Pro)
c.372T>C (p.Pro124=)
2g.130592952A>TCA348502380CFC1c.597T>A (p.Pro199=)
c.482T>A (p.Leu161His)
c.372T>A (p.Pro124=)
2g.130592952dupCA2661125017CFC1c.597dup (p.Arg200SerfsTer?)
c.482dup (p.Gly162ArgfsTer25)
c.372dup (p.Arg125SerfsTer?)
 gnomAD v4
2g.130592953G>ACA348502381CFC1c.596C>T (p.Pro199Leu)
c.481C>T (p.Leu161Phe)
c.371C>T (p.Pro124Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.130592953G>CCA348502382CFC1c.596C>G (p.Pro199Arg)
c.481C>G (p.Leu161Val)
c.371C>G (p.Pro124Arg)
2g.130592953G=CA1288363471CFC1c.596C= (p.Pro199=)
c.481C= (p.Leu161=)
c.371C= (p.Pro124=)
2g.130592953G>TCA348502383CFC1c.596C>A (p.Pro199His)
c.481C>A (p.Leu161Ile)
c.371C>A (p.Pro124His)
2g.130592954G>ACA348502384CFC1c.595C>T (p.Pro199Ser)
c.480C>T (p.Thr160=)
c.370C>T (p.Pro124Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.130592954G>CCA348502385CFC1c.595C>G (p.Pro199Ala)
c.480C>G (p.Thr160=)
c.370C>G (p.Pro124Ala)
2g.130592954G=CA1288363472CFC1c.595C= (p.Pro199=)
c.480C= (p.Thr160=)
c.370C= (p.Pro124=)
2g.130592954G>TCA348502386CFC1c.595C>A (p.Pro199Thr)
c.480C>A (p.Thr160=)
c.370C>A (p.Pro124Thr)
2g.130592955G>ACA348502387CFC1c.594C>T (p.His198=)
c.479C>T (p.Thr160Ile)
c.369C>T (p.His123=)
2g.130592955G>CCA348502388CFC1c.594C>G (p.His198Gln)
c.479C>G (p.Thr160Ser)
c.369C>G (p.His123Gln)
2g.130592955G>TCA348502389CFC1c.594C>A (p.His198Gln)
c.479C>A (p.Thr160Asn)
c.369C>A (p.His123Gln)
2g.130592956T>ACA348502392CFC1c.593A>T (p.His198Leu)
c.478A>T (p.Thr160Ser)
c.368A>T (p.His123Leu)
2g.130592956T>CCA348502390CFC1c.593A>G (p.His198Arg)
c.478A>G (p.Thr160Ala)
c.368A>G (p.His123Arg)
2g.130592956T>GCA348502391CFC1c.593A>C (p.His198Pro)
c.478A>C (p.Thr160Pro)
c.368A>C (p.His123Pro)
2g.130592957G>ACA348502393CFC1c.592C>T (p.His198Tyr)
c.477C>T (p.Arg159=)
c.367C>T (p.His123Tyr)
 gnomAD v4
2g.130592957G>CCA348502394CFC1c.592C>G (p.His198Asp)
c.477C>G (p.Arg159=)
c.367C>G (p.His123Asp)
2g.130592957G>TCA348502395CFC1c.592C>A (p.His198Asn)
c.477C>A (p.Arg159=)
c.367C>A (p.His123Asn)
2g.130592958C>ACA348502396CFC1c.591G>T (p.Ala197=)
c.476G>T (p.Arg159Leu)
c.366G>T (p.Ala122=)
 gnomAD v4
2g.130592958C=CA1288363473CFC1c.591G= (p.Ala197=)
c.476G= (p.Arg159=)
c.366G= (p.Ala122=)
2g.130592958C>GCA348502397CFC1c.591G>C (p.Ala197=)
c.476G>C (p.Arg159Pro)
c.366G>C (p.Ala122=)
2g.130592958C>TCA348502398CFC1c.591G>A (p.Ala197=)
c.476G>A (p.Arg159His)
c.366G>A (p.Ala122=)
 dbSNP gnomAD v2 gnomAD v4
2g.130592959G>ACA348502399CFC1c.590C>T (p.Ala197Val)
c.475C>T (p.Arg159Cys)
c.365C>T (p.Ala122Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.130592959G>CCA348502400CFC1c.590C>G (p.Ala197Gly)
c.475C>G (p.Arg159Gly)
c.365C>G (p.Ala122Gly)
 gnomAD v4
2g.130592959G=CA1288363474CFC1c.590C= (p.Ala197=)
c.475C= (p.Arg159=)
c.365C= (p.Ala122=)
2g.130592959G>TCA348502401CFC1c.590C>A (p.Ala197Glu)
c.475C>A (p.Arg159Ser)
c.365C>A (p.Ala122Glu)
2g.130592959_130592969delinsGCGGGCGCATCCA1288363475CFC1c.580_590delinsGATGCGCCCGC (p.Asp194=)
c.465_475delinsGATGCGCCCGC (p.Arg155=)
c.355_365delinsGATGCGCCCGC (p.Asp119=)
2g.130592960delCA2661125018CFC1c.589del (p.Ala197ArgfsTer?)
c.474del (p.Arg159AlafsTer?)
c.364del (p.Ala122ArgfsTer?)
 gnomAD v4
2g.130592960C>ACA348502402CFC1c.589G>T (p.Ala197Ser)
c.474G>T (p.Pro158=)
c.364G>T (p.Ala122Ser)
 gnomAD v4
2g.130592960C=CA1288363476CFC1c.589G= (p.Ala197=)
c.474G= (p.Pro158=)
c.364G= (p.Ala122=)
2g.130592960C>GCA348502403CFC1c.589G>C (p.Ala197Pro)
c.474G>C (p.Pro158=)
c.364G>C (p.Ala122Pro)
2g.130592960C>TCA348502404CFC1c.589G>A (p.Ala197Thr)
c.474G>A (p.Pro158=)
c.364G>A (p.Ala122Thr)
 dbSNP gnomAD v4
2g.130592968_130592977delCA914472695CFC1c.580_589del (p.Asp194ArgfsTer?)
c.465_474del (p.Met156AlafsTer?)
c.355_364del (p.Asp119ArgfsTer?)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.130592961G>ACA348502405CFC1c.588C>T (p.Pro196=)
c.473C>T (p.Pro158Leu)
c.363C>T (p.Pro121=)
 dbSNP gnomAD v4
2g.130592961G>CCA348502406CFC1c.588C>G (p.Pro196=)
c.473C>G (p.Pro158Arg)
c.363C>G (p.Pro121=)
 dbSNP gnomAD v2 gnomAD v4
2g.130592961G=CA1288363477CFC1c.588C= (p.Pro196=)
c.473C= (p.Pro158=)
c.363C= (p.Pro121=)
2g.130592961G>TCA290054CFC1c.588C>A (p.Pro196=)
c.473C>A (p.Pro158Gln)
c.363C>A (p.Pro121=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.130592963delCA2661125019CFC1c.588del (p.Ala197ArgfsTer?)
c.473del (p.Pro158ArgfsTer?)
c.363del (p.Ala122ArgfsTer?)
 gnomAD v4
2g.130592962G>ACA348502407CFC1c.587C>T (p.Pro196Leu)
c.472C>T (p.Pro158Ser)
c.362C>T (p.Pro121Leu)
 dbSNP gnomAD v3 gnomAD v4
2g.130592962G>CCA348502409CFC1c.587C>G (p.Pro196Arg)
c.472C>G (p.Pro158Ala)
c.362C>G (p.Pro121Arg)
 gnomAD v4
2g.130592962G=CA1288363478CFC1c.587C= (p.Pro196=)
c.472C= (p.Pro158=)
c.362C= (p.Pro121=)
2g.130592962G>TCA348502408CFC1c.587C>A (p.Pro196His)
c.472C>A (p.Pro158Thr)
c.362C>A (p.Pro121His)
2g.130592963G>ACA348502410CFC1c.586C>T (p.Pro196Ser)
c.471C>T (p.Arg157=)
c.361C>T (p.Pro121Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.130592963G>CCA348502411CFC1c.586C>G (p.Pro196Ala)
c.471C>G (p.Arg157=)
c.361C>G (p.Pro121Ala)
2g.130592963G=CA1288363479CFC1c.586C= (p.Pro196=)
c.471C= (p.Arg157=)
c.361C= (p.Pro121=)
2g.130592963G>TCA348502412CFC1c.586C>A (p.Pro196Thr)
c.471C>A (p.Arg157=)
c.361C>A (p.Pro121Thr)
2g.130592964C>ACA348502413CFC1c.585G>T (p.Ala195=)
c.470G>T (p.Arg157Leu)
c.360G>T (p.Ala120=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.130592964C=CA1288363480CFC1c.585G= (p.Ala195=)
c.470G= (p.Arg157=)
c.360G= (p.Ala120=)
2g.130592964C>GCA348502414CFC1c.585G>C (p.Ala195=)
c.470G>C (p.Arg157Pro)
c.360G>C (p.Ala120=)
 dbSNP gnomAD v3 gnomAD v4
2g.130592964C>TCA348502415CFC1c.585G>A (p.Ala195=)
c.470G>A (p.Arg157His)
c.360G>A (p.Ala120=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.130592965G>ACA348502416CFC1c.584C>T (p.Ala195Val)
c.469C>T (p.Arg157Cys)
c.359C>T (p.Ala120Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.130592965G>CCA348502417CFC1c.584C>G (p.Ala195Gly)
c.469C>G (p.Arg157Gly)
c.359C>G (p.Ala120Gly)
2g.130592965G=CA1288363481CFC1c.584C= (p.Ala195=)
c.469C= (p.Arg157=)
c.359C= (p.Ala120=)
2g.130592965G>TCA348502418CFC1c.584C>A (p.Ala195Glu)
c.469C>A (p.Arg157Ser)
c.359C>A (p.Ala120Glu)
2g.130592966C>ACA348502419CFC1c.583G>T (p.Ala195Ser)
c.468G>T (p.Met156Ile)
c.358G>T (p.Ala120Ser)
2g.130592966C>GCA348502420CFC1c.583G>C (p.Ala195Pro)
c.468G>C (p.Met156Ile)
c.358G>C (p.Ala120Pro)
2g.130592966C>TCA348502421CFC1c.583G>A (p.Ala195Thr)
c.468G>A (p.Met156Ile)
c.358G>A (p.Ala120Thr)
2g.130592967A>CCA348502422CFC1c.582T>G (p.Asp194Glu)
c.467T>G (p.Met156Arg)
c.357T>G (p.Asp119Glu)
2g.130592967A>GCA348502424CFC1c.582T>C (p.Asp194=)
c.467T>C (p.Met156Thr)
c.357T>C (p.Asp119=)
2g.130592967A>TCA348502423CFC1c.582T>A (p.Asp194Glu)
c.467T>A (p.Met156Lys)
c.357T>A (p.Asp119Glu)
2g.130592968T>ACA348502425CFC1c.581A>T (p.Asp194Val)
c.466A>T (p.Met156Leu)
c.356A>T (p.Asp119Val)
2g.130592968T>CCA348502426CFC1c.581A>G (p.Asp194Gly)
c.466A>G (p.Met156Val)
c.356A>G (p.Asp119Gly)
 dbSNP gnomAD v3 gnomAD v4
2g.130592968T>GCA348502427CFC1c.581A>C (p.Asp194Ala)
c.466A>C (p.Met156Leu)
c.356A>C (p.Asp119Ala)
2g.130592968T=CA1288363482CFC1c.581A= (p.Asp194=)
c.466A= (p.Met156=)
c.356A= (p.Asp119=)
2g.130592969C>ACA348502428CFC1c.580G>T (p.Asp194Tyr)
c.465G>T (p.Arg155=)
c.355G>T (p.Asp119Tyr)
2g.130592969C>GCA348502429CFC1c.580G>C (p.Asp194His)
c.465G>C (p.Arg155=)
c.355G>C (p.Asp119His)
2g.130592969C>TCA348502430CFC1c.580G>A (p.Asp194Asn)
c.465G>A (p.Arg155=)
c.355G>A (p.Asp119Asn)
2g.130592970C>ACA348502431CFC1c.579G>T (p.Pro193=)
c.464G>T (p.Arg155Leu)
c.354G>T (p.Pro118=)
2g.130592970C=CA1288363483CFC1c.579G= (p.Pro193=)
c.464G= (p.Arg155=)
c.354G= (p.Pro118=)
2g.130592970C>GCA348502432CFC1c.579G>C (p.Pro193=)
c.464G>C (p.Arg155Pro)
c.354G>C (p.Pro118=)
 gnomAD v4
2g.130592970C>TCA348502433CFC1c.579G>A (p.Pro193=)
c.464G>A (p.Arg155Gln)
c.354G>A (p.Pro118=)
 dbSNP gnomAD v2 gnomAD v4
2g.130592971G>ACA348502435CFC1c.578C>T (p.Pro193Leu)
c.463C>T (p.Arg155Trp)
c.353C>T (p.Pro118Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.130592971G>CCA348502436CFC1c.578C>G (p.Pro193Arg)
c.463C>G (p.Arg155Gly)
c.353C>G (p.Pro118Arg)
 gnomAD v4
2g.130592971G=CA1288363484CFC1c.578C= (p.Pro193=)
c.463C= (p.Arg155=)
c.353C= (p.Pro118=)
2g.130592971G>TCA348502434CFC1c.578C>A (p.Pro193Gln)
c.463C>A (p.Arg155=)
c.353C>A (p.Pro118Gln)
 gnomAD v4
2g.130592972G>ACA348502437CFC1c.577C>T (p.Pro193Ser)
c.462C>T (p.Ala154=)
c.352C>T (p.Pro118Ser)
 gnomAD v4
2g.130592972G>CCA348502439CFC1c.577C>G (p.Pro193Ala)
c.462C>G (p.Ala154=)
c.352C>G (p.Pro118Ala)
2g.130592972G>TCA348502441CFC1c.577C>A (p.Pro193Thr)
c.462C>A (p.Ala154=)
c.352C>A (p.Pro118Thr)
 gnomAD v4
2g.130592973G>ACA348502443CFC1c.576C>T (p.Arg192=)
c.461C>T (p.Ala154Val)
c.351C>T (p.Arg117=)
 dbSNP gnomAD v2 gnomAD v4
2g.130592973G>CCA348502445CFC1c.576C>G (p.Arg192=)
c.461C>G (p.Ala154Gly)
c.351C>G (p.Arg117=)
 dbSNP gnomAD v4
2g.130592973G=CA1288363485CFC1c.576C= (p.Arg192=)
c.461C= (p.Ala154=)
c.351C= (p.Arg117=)
2g.130592973G>TCA348502448CFC1c.576C>A (p.Arg192=)
c.461C>A (p.Ala154Asp)
c.351C>A (p.Arg117=)
2g.130592980_130593001delCA2752191866CFC1c.555_576del (p.Leu186ArgfsTer?)
c.440_461del (p.His147ProfsTer?)
c.330_351del (p.Leu111ArgfsTer?)
2g.130592974C>ACA348502450CFC1c.575G>T (p.Arg192Leu)
c.460G>T (p.Ala154Ser)
c.350G>T (p.Arg117Leu)
 dbSNP
2g.130592974C=CA1288363487CFC1c.575G= (p.Arg192=)
c.460G= (p.Ala154=)
c.350G= (p.Arg117=)
2g.130592974C>GCA348502452CFC1c.575G>C (p.Arg192Pro)
c.460G>C (p.Ala154Pro)
c.350G>C (p.Arg117Pro)
2g.130592974C>TCA348502454CFC1c.575G>A (p.Arg192His)
c.460G>A (p.Ala154Thr)
c.350G>A (p.Arg117His)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.130592974_130592986delinsCGCAGGAGGCGGTCA1288363486CFC1c.563_575delinsACCGCCTCCTGCG (p.His188=)
c.448_460delinsACCGCCTCCTGCG (p.Thr150=)
c.338_350delinsACCGCCTCCTGCG (p.His113=)
2g.130592975G>ACA348502457CFC1c.574C>T (p.Arg192Cys)
c.459C>T (p.Cys153=)
c.349C>T (p.Arg117Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.130592975G>CCA348502459CFC1c.574C>G (p.Arg192Gly)
c.459C>G (p.Cys153Trp)
c.349C>G (p.Arg117Gly)
 gnomAD v4
2g.130592975G=CA1288363488CFC1c.574C= (p.Arg192=)
c.459C= (p.Cys153=)
c.349C= (p.Arg117=)
2g.130592975G>TCA348502462CFC1c.574C>A (p.Arg192Ser)
c.459C>A (p.Cys153Ter)
c.349C>A (p.Arg117Ser)
 gnomAD v4
2g.130592982_130592993delCA1036409749CFC1c.563_574del (p.His188_Leu191del)
c.448_459del (p.Thr150_Cys153del)
c.338_349del (p.His113_Leu116del)
 dbSNP gnomAD v3 gnomAD v4
2g.130592976C>ACA348502467CFC1c.573G>T (p.Leu191=)
c.458G>T (p.Cys153Phe)
c.348G>T (p.Leu116=)
2g.130592976C>GCA348502470CFC1c.573G>C (p.Leu191=)
c.458G>C (p.Cys153Ser)
c.348G>C (p.Leu116=)
2g.130592976C>TCA348502465CFC1c.573G>A (p.Leu191=)
c.458G>A (p.Cys153Tyr)
c.348G>A (p.Leu116=)
2g.130592977A>CCA348502473CFC1c.572T>G (p.Leu191Arg)
c.457T>G (p.Cys153Gly)
c.347T>G (p.Leu116Arg)
2g.130592977A>GCA348502475CFC1c.572T>C (p.Leu191Pro)
c.457T>C (p.Cys153Arg)
c.347T>C (p.Leu116Pro)
2g.130592977A>TCA348502477CFC1c.572T>A (p.Leu191Gln)
c.457T>A (p.Cys153Ser)
c.347T>A (p.Leu116Gln)
2g.130592978G>ACA428885247CFC1c.571C>T (p.Leu191=)
c.456C>T (p.Ser152=)
c.346C>T (p.Leu116=)
2g.130592978G>CCA348502480CFC1c.571C>G (p.Leu191Val)
c.456C>G (p.Ser152=)
c.346C>G (p.Leu116Val)
2g.130592978G>TCA348502482CFC1c.571C>A (p.Leu191Met)
c.456C>A (p.Ser152=)
c.346C>A (p.Leu116Met)
2g.130592979G>ACA348502489CFC1c.570C>T (p.Leu190=)
c.455C>T (p.Ser152Phe)
c.345C>T (p.Leu115=)
 gnomAD v4
2g.130592979G>CCA348502484CFC1c.570C>G (p.Leu190=)
c.455C>G (p.Ser152Cys)
c.345C>G (p.Leu115=)
2g.130592979G>TCA348502487CFC1c.570C>A (p.Leu190=)
c.455C>A (p.Ser152Tyr)
c.345C>A (p.Leu115=)
2g.130592980A>CCA348502492CFC1c.569T>G (p.Leu190Arg)
c.454T>G (p.Ser152Ala)
c.344T>G (p.Leu115Arg)
2g.130592980A>GCA348502495CFC1c.569T>C (p.Leu190Pro)
c.454T>C (p.Ser152Pro)
c.344T>C (p.Leu115Pro)
2g.130592980A>TCA348502497CFC1c.569T>A (p.Leu190His)
c.454T>A (p.Ser152Thr)
c.344T>A (p.Leu115His)
2g.130592981G>ACA348502499CFC1c.568C>T (p.Leu190Phe)
c.453C>T (p.Ala151=)
c.343C>T (p.Leu115Phe)
 dbSNP gnomAD v3 gnomAD v4
2g.130592981G>CCA348502500CFC1c.568C>G (p.Leu190Val)
c.453C>G (p.Ala151=)
c.343C>G (p.Leu115Val)
2g.130592981G=CA1288363489CFC1c.568C= (p.Leu190=)
c.453C= (p.Ala151=)
c.343C= (p.Leu115=)
2g.130592981G>TCA348502503CFC1c.568C>A (p.Leu190Ile)
c.453C>A (p.Ala151=)
c.343C>A (p.Leu115Ile)
2g.130592982G>ACA348502508CFC1c.567C>T (p.Arg189=)
c.452C>T (p.Ala151Val)
c.342C>T (p.Arg114=)
 dbSNP gnomAD v4
2g.130592982G>CCA348502510CFC1c.567C>G (p.Arg189=)
c.452C>G (p.Ala151Gly)
c.342C>G (p.Arg114=)
2g.130592982G=CA1288363490CFC1c.567C= (p.Arg189=)
c.452C= (p.Ala151=)
c.342C= (p.Arg114=)
2g.130592982G>TCA348502506CFC1c.567C>A (p.Arg189=)
c.452C>A (p.Ala151Asp)
c.342C>A (p.Arg114=)
2g.130592983C>ACA348502516CFC1c.566G>T (p.Arg189Leu)
c.451G>T (p.Ala151Ser)
c.341G>T (p.Arg114Leu)
 dbSNP gnomAD v4
2g.130592983C=CA1288363491CFC1c.566G= (p.Arg189=)
c.451G= (p.Ala151=)
c.341G= (p.Arg114=)
2g.130592983C>GCA348502513CFC1c.566G>C (p.Arg189Pro)
c.451G>C (p.Ala151Pro)
c.341G>C (p.Arg114Pro)
2g.130592983C>TCA348502518CFC1c.566G>A (p.Arg189His)
c.451G>A (p.Ala151Thr)
c.341G>A (p.Arg114His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.130592983_130592989delinsCGGTGCACA1288363492CFC1c.560_566delinsTGCACCG (p.Leu187=)
c.445_451delinsTGCACCG (p.Cys149=)
c.335_341delinsTGCACCG (p.Leu112=)
2g.130592984G>ACA348502521CFC1c.565C>T (p.Arg189Cys)
c.450C>T (p.Thr150=)
c.340C>T (p.Arg114Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.130592984G>CCA348502525CFC1c.565C>G (p.Arg189Gly)
c.450C>G (p.Thr150=)
c.340C>G (p.Arg114Gly)
2g.130592984G=CA1288363493CFC1c.565C= (p.Arg189=)
c.450C= (p.Thr150=)
c.340C= (p.Arg114=)
2g.130592984G>TCA348502523CFC1c.565C>A (p.Arg189Ser)
c.450C>A (p.Thr150=)
c.340C>A (p.Arg114Ser)
 gnomAD v3 gnomAD v4
2g.130592986_130592991delCA756946237CFC1c.560_565del (p.Leu187_His188del)
c.445_450del (p.Cys149_Thr150del)
c.335_340del (p.Leu112_His113del)
 dbSNP gnomAD v3 gnomAD v4
2g.130592985G>ACA348502528CFC1c.564C>T (p.His188=)
c.449C>T (p.Thr150Ile)
c.339C>T (p.His113=)
 gnomAD v4
2g.130592985G>CCA348502533CFC1c.564C>G (p.His188Gln)
c.449C>G (p.Thr150Ser)
c.339C>G (p.His113Gln)
2g.130592985G>TCA348502531CFC1c.564C>A (p.His188Gln)
c.449C>A (p.Thr150Asn)
c.339C>A (p.His113Gln)
2g.130592986T>ACA348502536CFC1c.563A>T (p.His188Leu)
c.448A>T (p.Thr150Ser)
c.338A>T (p.His113Leu)
2g.130592986T>CCA348502538CFC1c.563A>G (p.His188Arg)
c.448A>G (p.Thr150Ala)
c.338A>G (p.His113Arg)
2g.130592986T>GCA348502541CFC1c.563A>C (p.His188Pro)
c.448A>C (p.Thr150Pro)
c.338A>C (p.His113Pro)
2g.130592987G>ACA348502544CFC1c.562C>T (p.His188Tyr)
c.447C>T (p.Cys149=)
c.337C>T (p.His113Tyr)
2g.130592987G>CCA348502546CFC1c.562C>G (p.His188Asp)
c.447C>G (p.Cys149Trp)
c.337C>G (p.His113Asp)
2g.130592987G>TCA348502548CFC1c.562C>A (p.His188Asn)
c.447C>A (p.Cys149Ter)
c.337C>A (p.His113Asn)
2g.130592988C>ACA348502555CFC1c.561G>T (p.Leu187=)
c.446G>T (p.Cys149Phe)
c.336G>T (p.Leu112=)
2g.130592988C>GCA348502551CFC1c.561G>C (p.Leu187=)
c.446G>C (p.Cys149Ser)
c.336G>C (p.Leu112=)
2g.130592988C>TCA348502553CFC1c.561G>A (p.Leu187=)
c.446G>A (p.Cys149Tyr)
c.336G>A (p.Leu112=)
2g.130592989A=CA1288363494CFC1c.560T= (p.Leu187=)
c.445T= (p.Cys149=)
c.335T= (p.Leu112=)
2g.130592989A>CCA348502559CFC1c.560T>G (p.Leu187Arg)
c.445T>G (p.Cys149Gly)
c.335T>G (p.Leu112Arg)
2g.130592989A>GCA348502561CFC1c.560T>C (p.Leu187Pro)
c.445T>C (p.Cys149Arg)
c.335T>C (p.Leu112Pro)
 dbSNP gnomAD v4
2g.130592989A>TCA348502563CFC1c.560T>A (p.Leu187Gln)
c.445T>A (p.Cys149Ser)
c.335T>A (p.Leu112Gln)
2g.130592990G>ACA428885267CFC1c.559C>T (p.Leu187=)
c.444C>T (p.Ser148=)
c.334C>T (p.Leu112=)
 dbSNP
2g.130592990G>CCA348502566CFC1c.559C>G (p.Leu187Val)
c.444C>G (p.Ser148=)
c.334C>G (p.Leu112Val)
2g.130592990G=CA1288363495CFC1c.559C= (p.Leu187=)
c.444C= (p.Ser148=)
c.334C= (p.Leu112=)
2g.130592990G>TCA348502568CFC1c.559C>A (p.Leu187Met)
c.444C>A (p.Ser148=)
c.334C>A (p.Leu112Met)
 dbSNP gnomAD v3 gnomAD v4
2g.130592991G>ACA348502576CFC1c.558C>T (p.Leu186=)
c.443C>T (p.Ser148Phe)
c.333C>T (p.Leu111=)
2g.130592991G>CCA348502572CFC1c.558C>G (p.Leu186=)
c.443C>G (p.Ser148Cys)
c.333C>G (p.Leu111=)
2g.130592991G>TCA348502574CFC1c.558C>A (p.Leu186=)
c.443C>A (p.Ser148Tyr)
c.333C>A (p.Leu111=)
2g.130592992A>CCA348502579CFC1c.557T>G (p.Leu186Arg)
c.442T>G (p.Ser148Ala)
c.332T>G (p.Leu111Arg)
2g.130592992A>GCA348502581CFC1c.557T>C (p.Leu186Pro)
c.442T>C (p.Ser148Pro)
c.332T>C (p.Leu111Pro)
2g.130592992A>TCA348502583CFC1c.557T>A (p.Leu186His)
c.442T>A (p.Ser148Thr)
c.332T>A (p.Leu111His)
2g.130592993G>ACA348502586CFC1c.556C>T (p.Leu186Phe)
c.441C>T (p.His147=)
c.331C>T (p.Leu111Phe)
2g.130592993G>CCA348502588CFC1c.556C>G (p.Leu186Val)
c.441C>G (p.His147Gln)
c.331C>G (p.Leu111Val)
2g.130592993G>TCA348502590CFC1c.556C>A (p.Leu186Ile)
c.441C>A (p.His147Gln)
c.331C>A (p.Leu111Ile)
2g.130592994T>ACA348502594CFC1c.555A>T (p.Ala185=)
c.440A>T (p.His147Leu)
c.330A>T (p.Ala110=)
 gnomAD v3 gnomAD v4
2g.130592994T>CCA348502596CFC1c.555A>G (p.Ala185=)
c.440A>G (p.His147Arg)
c.330A>G (p.Ala110=)
 gnomAD v4
2g.130592994T>GCA348502598CFC1c.555A>C (p.Ala185=)
c.440A>C (p.His147Pro)
c.330A>C (p.Ala110=)
 gnomAD v3 gnomAD v4
2g.130592995G>ACA348502602CFC1c.554C>T (p.Ala185Val)
c.439C>T (p.His147Tyr)
c.329C>T (p.Ala110Val)
2g.130592995G>CCA348502603CFC1c.554C>G (p.Ala185Gly)
c.439C>G (p.His147Asp)
c.329C>G (p.Ala110Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.130592995G=CA1288363496CFC1c.554C= (p.Ala185=)
c.439C= (p.His147=)
c.329C= (p.Ala110=)
2g.130592995G>TCA348502606CFC1c.554C>A (p.Ala185Glu)
c.439C>A (p.His147Asn)
c.329C>A (p.Ala110Glu)
2g.130592996C>ACA348502608CFC1c.553G>T (p.Ala185Ser)
c.438G>T (p.Ala146=)
c.328G>T (p.Ala110Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.130592996C=CA1288363497CFC1c.553G= (p.Ala185=)
c.438G= (p.Ala146=)
c.328G= (p.Ala110=)
2g.130592996C>GCA348502612CFC1c.553G>C (p.Ala185Pro)
c.438G>C (p.Ala146=)
c.328G>C (p.Ala110Pro)
2g.130592996C>TCA348502610CFC1c.553G>A (p.Ala185Thr)
c.438G>A (p.Ala146=)
c.328G>A (p.Ala110Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.130592996_130592997insACA1036409766CFC1c.552_553insT (p.Ala185CysfsTer?)
c.437_438insT (p.His147AlafsTer?)
c.327_328insT (p.Ala110CysfsTer?)
 dbSNP gnomAD v3 gnomAD v4
2g.130592997G>ACA348502614CFC1c.552C>T (p.Cys184=)
c.437C>T (p.Ala146Val)
c.327C>T (p.Cys109=)
 dbSNP gnomAD v4
2g.130592997G>CCA348502616CFC1c.552C>G (p.Cys184Trp)
c.437C>G (p.Ala146Gly)
c.327C>G (p.Cys109Trp)
2g.130592997G=CA1288363498CFC1c.552C= (p.Cys184=)
c.437C= (p.Ala146=)
c.327C= (p.Cys109=)
2g.130592997G>TCA348502618CFC1c.552C>A (p.Cys184Ter)
c.437C>A (p.Ala146Glu)
c.327C>A (p.Cys109Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.130592998C>ACA348502620CFC1c.551G>T (p.Cys184Phe)
c.436G>T (p.Ala146Ser)
c.326G>T (p.Cys109Phe)
2g.130592998C>GCA348502622CFC1c.551G>C (p.Cys184Ser)
c.436G>C (p.Ala146Pro)
c.326G>C (p.Cys109Ser)
2g.130592998C>TCA348502624CFC1c.551G>A (p.Cys184Tyr)
c.436G>A (p.Ala146Thr)
c.326G>A (p.Cys109Tyr)
 gnomAD v4
2g.130592998_130592999delinsCACA1288363499CFC1c.550_551delinsTG (p.Cys184=)
c.435_436delinsTG (p.Pro145=)
c.325_326delinsTG (p.Cys109=)
2g.130592999delCA536070241CFC1c.550del (p.Cys184AlafsTer?)
c.435del (p.Ala146ArgfsTer?)
c.325del (p.Cys109AlafsTer?)
 dbSNP gnomAD v2 gnomAD v4
2g.130592999A=CA1288363500CFC1c.550T= (p.Cys184=)
c.435T= (p.Pro145=)
c.325T= (p.Cys109=)
2g.130592999A>CCA348502627CFC1c.550T>G (p.Cys184Gly)
c.435T>G (p.Pro145=)
c.325T>G (p.Cys109Gly)
2g.130592999A>GCA348502629CFC1c.550T>C (p.Cys184Arg)
c.435T>C (p.Pro145=)
c.325T>C (p.Cys109Arg)
 dbSNP gnomAD v4
2g.130592999A>TCA348502630CFC1c.550T>A (p.Cys184Ser)
c.435T>A (p.Pro145=)
c.325T>A (p.Cys109Ser)
2g.130593001_130593011dupCA2661125020CFC1c.540_550dup (p.Cys184SerfsTer?)
c.425_435dup (p.Ala146LeufsTer?)
c.315_325dup (p.Cys109SerfsTer?)
 gnomAD v4
2g.130593000G>ACA348502633CFC1c.549C>T (p.Pro183=)
c.434C>T (p.Pro145Leu)
c.324C>T (p.Pro108=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.130593000G>CCA348502635CFC1c.549C>G (p.Pro183=)
c.434C>G (p.Pro145Arg)
c.324C>G (p.Pro108=)
2g.130593000G=CA1288363501CFC1c.549C= (p.Pro183=)
c.434C= (p.Pro145=)
c.324C= (p.Pro108=)
2g.130593000G>TCA348502637CFC1c.549C>A (p.Pro183=)
c.434C>A (p.Pro145His)
c.324C>A (p.Pro108=)
2g.130593002delCA2604643544CFC1c.549del (p.Cys184AlafsTer?)
c.434del (p.Pro145LeufsTer?)
c.324del (p.Cys109AlafsTer?)
 gnomAD v3 gnomAD v4
2g.130593001G>ACA348502643CFC1c.548C>T (p.Pro183Leu)
c.433C>T (p.Pro145Ser)
c.323C>T (p.Pro108Leu)
 gnomAD v4
2g.130593001G>CCA348502639CFC1c.548C>G (p.Pro183Arg)
c.433C>G (p.Pro145Ala)
c.323C>G (p.Pro108Arg)
2g.130593001G>TCA348502641CFC1c.548C>A (p.Pro183His)
c.433C>A (p.Pro145Thr)
c.323C>A (p.Pro108His)
2g.130593002G>ACA348502645CFC1c.547C>T (p.Pro183Ser)
c.432C>T (p.Cys144=)
c.322C>T (p.Pro108Ser)
 gnomAD v4
2g.130593002G>CCA348502647CFC1c.547C>G (p.Pro183Ala)
c.432C>G (p.Cys144Trp)
c.322C>G (p.Pro108Ala)
2g.130593002G>TCA348502649CFC1c.547C>A (p.Pro183Thr)
c.432C>A (p.Cys144Ter)
c.322C>A (p.Pro108Thr)
2g.130593003C>ACA348502651CFC1c.546G>T (p.Leu182=)
c.431G>T (p.Cys144Phe)
c.321G>T (p.Leu107=)
 dbSNP gnomAD v3 gnomAD v4
2g.130593003C=CA1288363502CFC1c.546G= (p.Leu182=)
c.431G= (p.Cys144=)
c.321G= (p.Leu107=)
2g.130593003C>GCA348502653CFC1c.546G>C (p.Leu182=)
c.431G>C (p.Cys144Ser)
c.321G>C (p.Leu107=)
2g.130593003C>TCA348502655CFC1c.546G>A (p.Leu182=)
c.431G>A (p.Cys144Tyr)
c.321G>A (p.Leu107=)
2g.130593004A>CCA348502657CFC1c.545T>G (p.Leu182Arg)
c.430T>G (p.Cys144Gly)
c.320T>G (p.Leu107Arg)
2g.130593004A>GCA348502659CFC1c.545T>C (p.Leu182Pro)
c.430T>C (p.Cys144Arg)
c.320T>C (p.Leu107Pro)
2g.130593004A>TCA348502661CFC1c.545T>A (p.Leu182Gln)
c.430T>A (p.Cys144Ser)
c.320T>A (p.Leu107Gln)
2g.130593005G>ACA428885282CFC1c.544C>T (p.Leu182=)
c.429C>T (p.Cys143=)
c.319C>T (p.Leu107=)
2g.130593005G>CCA348502663CFC1c.544C>G (p.Leu182Val)
c.429C>G (p.Cys143Trp)
c.319C>G (p.Leu107Val)
2g.130593005G>TCA348502665CFC1c.544C>A (p.Leu182Met)
c.429C>A (p.Cys143Ter)
c.319C>A (p.Leu107Met)
2g.130593006C>ACA348502671CFC1c.543G>T (p.Leu181Phe)
c.428G>T (p.Cys143Phe)
c.318G>T (p.Leu106Phe)
2g.130593006C=CA1288363503CFC1c.543G= (p.Leu181=)
c.428G= (p.Cys143=)
c.318G= (p.Leu106=)
2g.130593006C>GCA348502669CFC1c.543G>C (p.Leu181Phe)
c.428G>C (p.Cys143Ser)
c.318G>C (p.Leu106Phe)
2g.130593006C>TCA348502667CFC1c.543G>A (p.Leu181=)
c.428G>A (p.Cys143Tyr)
c.318G>A (p.Leu106=)
 dbSNP gnomAD v4
2g.130593007A>CCA348502675CFC1c.542T>G (p.Leu181Trp)
c.427T>G (p.Cys143Gly)
c.317T>G (p.Leu106Trp)
2g.130593007A>GCA348502673CFC1c.542T>C (p.Leu181Ser)
c.427T>C (p.Cys143Arg)
c.317T>C (p.Leu106Ser)
2g.130593007A>TCA348502677CFC1c.542T>A (p.Leu181Ter)
c.427T>A (p.Cys143Ser)
c.317T>A (p.Leu106Ter)
2g.130593008A>CCA348502679CFC1c.541T>G (p.Leu181Val)
c.426T>G (p.Ser142=)
c.316T>G (p.Leu106Val)
2g.130593008A>GCA428885290CFC1c.541T>C (p.Leu181=)
c.426T>C (p.Ser142=)
c.316T>C (p.Leu106=)
 gnomAD v4
2g.130593008A>TCA348502681CFC1c.541T>A (p.Leu181Met)
c.426T>A (p.Ser142=)
c.316T>A (p.Leu106Met)
2g.130593009G>ACA348502683CFC1c.540C>T (p.Leu180=)
c.425C>T (p.Ser142Phe)
c.315C>T (p.Leu105=)
2g.130593009G>CCA348502684CFC1c.540C>G (p.Leu180=)
c.425C>G (p.Ser142Cys)
c.315C>G (p.Leu105=)
2g.130593009G>TCA348502686CFC1c.540C>A (p.Leu180=)
c.425C>A (p.Ser142Tyr)
c.315C>A (p.Leu105=)
2g.130593010A=CA1288363504CFC1c.539T= (p.Leu180=)
c.424T= (p.Ser142=)
c.314T= (p.Leu105=)
2g.130593010A>CCA348502693CFC1c.539T>G (p.Leu180Arg)
c.424T>G (p.Ser142Ala)
c.314T>G (p.Leu105Arg)
 dbSNP gnomAD v4
2g.130593010A>GCA348502690CFC1c.539T>C (p.Leu180Pro)
c.424T>C (p.Ser142Pro)
c.314T>C (p.Leu105Pro)
2g.130593010A>TCA348502689CFC1c.539T>A (p.Leu180His)
c.424T>A (p.Ser142Thr)
c.314T>A (p.Leu105His)
 gnomAD v4
2g.130593011G>ACA348502695CFC1c.538C>T (p.Leu180Phe)
c.423C>T (p.Tyr141=)
c.313C>T (p.Leu105Phe)
 gnomAD v4
2g.130593011G>CCA348502696CFC1c.538C>G (p.Leu180Val)
c.423C>G (p.Tyr141Ter)
c.313C>G (p.Leu105Val)
 gnomAD v4
2g.130593011G>TCA348502698CFC1c.538C>A (p.Leu180Ile)
c.423C>A (p.Tyr141Ter)
c.313C>A (p.Leu105Ile)
2g.130593012T>ACA348502700CFC1c.537A>T (p.Leu179=)
c.422A>T (p.Tyr141Phe)
c.312A>T (p.Leu104=)
2g.130593012T>CCA348502702CFC1c.537A>G (p.Leu179=)
c.422A>G (p.Tyr141Cys)
c.312A>G (p.Leu104=)
2g.130593012T>GCA348502704CFC1c.537A>C (p.Leu179=)
c.422A>C (p.Tyr141Ser)
c.312A>C (p.Leu104=)
 dbSNP gnomAD v3 gnomAD v4
2g.130593012T=CA1288363505CFC1c.537A= (p.Leu179=)
c.422A= (p.Tyr141=)
c.312A= (p.Leu104=)
2g.130593013A>CCA348502706CFC1c.536T>G (p.Leu179Arg)
c.421T>G (p.Tyr141Asp)
c.311T>G (p.Leu104Arg)
2g.130593013A>GCA348502710CFC1c.536T>C (p.Leu179Pro)
c.421T>C (p.Tyr141His)
c.311T>C (p.Leu104Pro)
2g.130593013A>TCA348502707CFC1c.536T>A (p.Leu179Gln)
c.421T>A (p.Tyr141Asn)
c.311T>A (p.Leu104Gln)
2g.130593014G>ACA428885303CFC1c.535C>T (p.Leu179=)
c.420C>T (p.Cys140=)
c.310C>T (p.Leu104=)
2g.130593014G>CCA348502712CFC1c.535C>G (p.Leu179Val)
c.420C>G (p.Cys140Trp)
c.310C>G (p.Leu104Val)
2g.130593014G>TCA348502714CFC1c.535C>A (p.Leu179Ile)
c.420C>A (p.Cys140Ter)
c.310C>A (p.Leu104Ile)
2g.130593015C>ACA348502716CFC1c.534G>T (p.Leu178=)
c.419G>T (p.Cys140Phe)
c.309G>T (p.Leu103=)
2g.130593015C=CA1288363506CFC1c.534G= (p.Leu178=)
c.419G= (p.Cys140=)
c.309G= (p.Leu103=)
2g.130593015C>GCA348502718CFC1c.534G>C (p.Leu178=)
c.419G>C (p.Cys140Ser)
c.309G>C (p.Leu103=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.130593015C>TCA348502720CFC1c.534G>A (p.Leu178=)
c.419G>A (p.Cys140Tyr)
c.309G>A (p.Leu103=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.130593016A>CCA348502721CFC1c.533T>G (p.Leu178Arg)
c.418T>G (p.Cys140Gly)
c.308T>G (p.Leu103Arg)
 gnomAD v4
2g.130593016A>GCA348502722CFC1c.533T>C (p.Leu178Pro)
c.418T>C (p.Cys140Arg)
c.308T>C (p.Leu103Pro)
 gnomAD v4
2g.130593016A>TCA348502723CFC1c.533T>A (p.Leu178Gln)
c.418T>A (p.Cys140Ser)
c.308T>A (p.Leu103Gln)
 gnomAD v4
2g.130593017G>ACA428885308CFC1c.532C>T (p.Leu178=)
c.417C>T (p.Ala139=)
c.307C>T (p.Leu103=)
2g.130593017G>CCA348502725CFC1c.532C>G (p.Leu178Val)
c.417C>G (p.Ala139=)
c.307C>G (p.Leu103Val)
2g.130593017G>TCA348502727CFC1c.532C>A (p.Leu178Met)
c.417C>A (p.Ala139=)
c.307C>A (p.Leu103Met)
2g.130593018G>ACA348502735CFC1c.531C>T (p.Ser177=)
c.416C>T (p.Ala139Val)
c.306C>T (p.Ser102=)
2g.130593018G>CCA348502733CFC1c.531C>G (p.Ser177Arg)
c.416C>G (p.Ala139Gly)
c.306C>G (p.Ser102Arg)
2g.130593018G>TCA348502730CFC1c.531C>A (p.Ser177Arg)
c.416C>A (p.Ala139Asp)
c.306C>A (p.Ser102Arg)
2g.130593019C>ACA348502738CFC1c.530G>T (p.Ser177Ile)
c.415G>T (p.Ala139Ser)
c.305G>T (p.Ser102Ile)
2g.130593019C>GCA348502740CFC1c.530G>C (p.Ser177Thr)
c.415G>C (p.Ala139Pro)
c.305G>C (p.Ser102Thr)
 gnomAD v3 gnomAD v4
2g.130593019C>TCA348502742CFC1c.530G>A (p.Ser177Asn)
c.415G>A (p.Ala139Thr)
c.305G>A (p.Ser102Asn)
 gnomAD v4
2g.130593020T>ACA348502745CFC1c.529A>T (p.Ser177Cys)
c.414A>T (p.Pro138=)
c.304A>T (p.Ser102Cys)
2g.130593020T>CCA348502747CFC1c.529A>G (p.Ser177Gly)
c.414A>G (p.Pro138=)
c.304A>G (p.Ser102Gly)
 gnomAD v4
2g.130593020T>GCA348502749CFC1c.529A>C (p.Ser177Arg)
c.414A>C (p.Pro138=)
c.304A>C (p.Ser102Arg)
2g.130593021G>ACA348502751CFC1c.528C>T (p.Pro176=)
c.413C>T (p.Pro138Leu)
c.303C>T (p.Pro101=)
 gnomAD v4
2g.130593021G>CCA348502753CFC1c.528C>G (p.Pro176=)
c.413C>G (p.Pro138Arg)
c.303C>G (p.Pro101=)
2g.130593021G>TCA348502755CFC1c.528C>A (p.Pro176=)
c.413C>A (p.Pro138Gln)
c.303C>A (p.Pro101=)
2g.130593022G>ACA348502758CFC1c.527C>T (p.Pro176Leu)
c.412C>T (p.Pro138Ser)
c.302C>T (p.Pro101Leu)
2g.130593022G>CCA348502760CFC1c.527C>G (p.Pro176Arg)
c.412C>G (p.Pro138Ala)
c.302C>G (p.Pro101Arg)
2g.130593022G>TCA348502762CFC1c.527C>A (p.Pro176His)
c.412C>A (p.Pro138Thr)
c.302C>A (p.Pro101His)
2g.130593022_130593024delinsGGCCA1288363507CFC1c.525_527delinsGCC (p.Ala175=)
c.410_412delinsGCC (p.Arg137=)
c.300_302delinsGCC (p.Ala100=)
2g.130593023G>ACA348502767CFC1c.526C>T (p.Pro176Ser)
c.411C>T (p.Arg137=)
c.301C>T (p.Pro101Ser)
2g.130593023G>CCA348502766CFC1c.526C>G (p.Pro176Ala)
c.411C>G (p.Arg137=)
c.301C>G (p.Pro101Ala)
 gnomAD v4
2g.130593023G>TCA348502765CFC1c.526C>A (p.Pro176Thr)
c.411C>A (p.Arg137=)
c.301C>A (p.Pro101Thr)
2g.130593027_130593028delCA536070245CFC1c.525_526del (p.Pro176GlnfsTer?)
c.410_411del (p.Arg137ProfsTer?)
c.300_301del (p.Pro101GlnfsTer?)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.130593024C>ACA348502768CFC1c.525G>T (p.Ala175=)
c.410G>T (p.Arg137Leu)
c.300G>T (p.Ala100=)
 gnomAD v4
2g.130593024C=CA1288363508CFC1c.525G= (p.Ala175=)
c.410G= (p.Arg137=)
c.300G= (p.Ala100=)
2g.130593024C>GCA348502769CFC1c.525G>C (p.Ala175=)
c.410G>C (p.Arg137Pro)
c.300G>C (p.Ala100=)
 gnomAD v4
2g.130593024C>TCA348502770CFC1c.525G>A (p.Ala175=)
c.410G>A (p.Arg137His)
c.300G>A (p.Ala100=)
 dbSNP gnomAD v4
2g.130593025G>ACA348502771CFC1c.524C>T (p.Ala175Val)
c.409C>T (p.Arg137Cys)
c.299C>T (p.Ala100Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.130593025G>CCA348502772CFC1c.524C>G (p.Ala175Gly)
c.409C>G (p.Arg137Gly)
c.299C>G (p.Ala100Gly)
2g.130593025G=CA1288363509CFC1c.524C= (p.Ala175=)
c.409C= (p.Arg137=)
c.299C= (p.Ala100=)
2g.130593025G>TCA348502773CFC1c.524C>A (p.Ala175Glu)
c.409C>A (p.Arg137Ser)
c.299C>A (p.Ala100Glu)
2g.130593026C>ACA348502774CFC1c.523G>T (p.Ala175Ser)
c.408G>T (p.Ala136=)
c.298G>T (p.Ala100Ser)
2g.130593026C=CA1288363511CFC1c.523G= (p.Ala175=)
c.408G= (p.Ala136=)
c.298G= (p.Ala100=)
2g.130593026C>GCA348502775CFC1c.523G>C (p.Ala175Pro)
c.408G>C (p.Ala136=)
c.298G>C (p.Ala100Pro)
2g.130593026C>TCA348502776CFC1c.523G>A (p.Ala175Thr)
c.408G>A (p.Ala136=)
c.298G>A (p.Ala100Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.130593026dupCA536070250CFC1c.523dup (p.Ala175GlyfsTer?)
c.408dup (p.Arg137AlafsTer?)
c.298dup (p.Ala100GlyfsTer?)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.130593026_130593027delinsCGCA1288363510CFC1c.522_523delinsCG (p.Gly174=)
c.407_408delinsCG (p.Ala136=)
c.297_298delinsCG (p.Gly99=)
2g.130593027delCA281556CFC1c.522del (p.Ala175ArgfsTer?)
c.407del (p.Ala136GlyfsTer?)
c.297del (p.Ala100ArgfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.130593027G>ACA348502777CFC1c.522C>T (p.Gly174=)
c.407C>T (p.Ala136Val)
c.297C>T (p.Gly99=)
 dbSNP gnomAD v3 gnomAD v4
2g.130593027G>CCA348502778CFC1c.522C>G (p.Gly174=)
c.407C>G (p.Ala136Gly)
c.297C>G (p.Gly99=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.130593027G=CA1288363512CFC1c.522C= (p.Gly174=)
c.407C= (p.Ala136=)
c.297C= (p.Gly99=)
2g.130593027G>TCA348502779CFC1c.522C>A (p.Gly174=)
c.407C>A (p.Ala136Glu)
c.297C>A (p.Gly99=)
2g.130593027_130593028delinsGCCA1288363513CFC1c.521_522delinsGC (p.Gly174=)
c.406_407delinsGC (p.Ala136=)
c.296_297delinsGC (p.Gly99=)
2g.130593028C>ACA348502781CFC1c.521G>T (p.Gly174Val)
c.406G>T (p.Ala136Ser)
c.296G>T (p.Gly99Val)
2g.130593028C>GCA348502782CFC1c.521G>C (p.Gly174Ala)
c.406G>C (p.Ala136Pro)
c.296G>C (p.Gly99Ala)
2g.130593028C>TCA348502780CFC1c.521G>A (p.Gly174Asp)
c.406G>A (p.Ala136Thr)
c.296G>A (p.Gly99Asp)
2g.130593032dupCA1288363514CFC1c.521dup (p.Ala175ArgfsTer?)
c.406dup (p.Ala136GlyfsTer?)
c.296dup (p.Ala100ArgfsTer?)
 dbSNP gnomAD v4
2g.130593032delCA756946352CFC1c.521del (p.Gly174AlafsTer?)
c.406del (p.Ala136ArgfsTer?)
c.296del (p.Gly99AlafsTer?)
 dbSNP gnomAD v4
2g.130593029C>ACA348502783CFC1c.520G>T (p.Gly174Cys)
c.405G>T (p.Gly135=)
c.295G>T (p.Gly99Cys)
2g.130593029C>GCA348502785CFC1c.520G>C (p.Gly174Arg)
c.405G>C (p.Gly135=)
c.295G>C (p.Gly99Arg)
2g.130593029C>TCA348502784CFC1c.520G>A (p.Gly174Ser)
c.405G>A (p.Gly135=)
c.295G>A (p.Gly99Ser)
 dbSNP gnomAD v3 gnomAD v4
2g.130593030C>ACA348502786CFC1c.519G>T (p.Gly173=)
c.404G>T (p.Gly135Val)
c.294G>T (p.Gly98=)
2g.130593030C=CA1288363515CFC1c.519G= (p.Gly173=)
c.404G= (p.Gly135=)
c.294G= (p.Gly98=)
2g.130593030C>GCA348502788CFC1c.519G>C (p.Gly173=)
c.404G>C (p.Gly135Ala)
c.294G>C (p.Gly98=)
 dbSNP gnomAD v3 gnomAD v4
2g.130593030C>TCA348502787CFC1c.519G>A (p.Gly173=)
c.404G>A (p.Gly135Glu)
c.294G>A (p.Gly98=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.130593031C>ACA348502789CFC1c.518G>T (p.Gly173Val)
c.403G>T (p.Gly135Trp)
c.293G>T (p.Gly98Val)
2g.130593031C=CA1288363516CFC1c.518G= (p.Gly173=)
c.403G= (p.Gly135=)
c.293G= (p.Gly98=)
2g.130593031C>GCA348502790CFC1c.518G>C (p.Gly173Ala)
c.403G>C (p.Gly135Arg)
c.293G>C (p.Gly98Ala)
 dbSNP gnomAD v3 gnomAD v4
2g.130593031C>TCA348502791CFC1c.518G>A (p.Gly173Glu)
c.403G>A (p.Gly135Arg)
c.293G>A (p.Gly98Glu)
2g.130593032C>ACA348502792CFC1c.517G>T (p.Gly173Trp)
c.402G>T (p.Pro134=)
c.292G>T (p.Gly98Trp)
2g.130593032C=CA1288363517CFC1c.517G= (p.Gly173=)
c.402G= (p.Pro134=)
c.292G= (p.Gly98=)
2g.130593032C>GCA348502793CFC1c.517G>C (p.Gly173Arg)
c.402G>C (p.Pro134=)
c.292G>C (p.Gly98Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.130593032C>TCA348502794CFC1c.517G>A (p.Gly173Arg)
c.402G>A (p.Pro134=)
c.292G>A (p.Gly98Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.130593032_130593034delinsCGGCA1288363518CFC1c.515_517delinsCCG (p.Ala172=)
c.400_402delinsCCG (p.Pro134=)
c.290_292delinsCCG (p.Ala97=)
2g.130593033G>ACA348502797CFC1c.516C>T (p.Ala172=)
c.401C>T (p.Pro134Leu)
c.291C>T (p.Ala97=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.130593033G>CCA348502799CFC1c.516C>G (p.Ala172=)
c.401C>G (p.Pro134Arg)
c.291C>G (p.Ala97=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.130593033G=CA1288363520CFC1c.516C= (p.Ala172=)
c.401C= (p.Pro134=)
c.291C= (p.Ala97=)
2g.130593033G>TCA348502801CFC1c.516C>A (p.Ala172=)
c.401C>A (p.Pro134Gln)
c.291C>A (p.Ala97=)
 dbSNP
2g.130593033_130593034delCA1288363519CFC1c.515_516del (p.Ala172GlyfsTer?)
c.400_401del (p.Pro134GlyfsTer?)
c.290_291del (p.Ala97GlyfsTer?)
 dbSNP
2g.130593034G>ACA348502804CFC1c.515C>T (p.Ala172Val)
c.400C>T (p.Pro134Ser)
c.290C>T (p.Ala97Val)
 dbSNP gnomAD v3 gnomAD v4
2g.130593034G>CCA348502807CFC1c.515C>G (p.Ala172Gly)
c.400C>G (p.Pro134Ala)
c.290C>G (p.Ala97Gly)
 gnomAD v4
2g.130593034G=CA1288363521CFC1c.515C= (p.Ala172=)
c.400C= (p.Pro134=)
c.290C= (p.Ala97=)
2g.130593034G>TCA348502810CFC1c.515C>A (p.Ala172Asp)
c.400C>A (p.Pro134Thr)
c.290C>A (p.Ala97Asp)
2g.130593035C>ACA348502812CFC1c.514G>T (p.Ala172Ser)
c.399G>T (p.Ala133=)
c.289G>T (p.Ala97Ser)
 gnomAD v4
2g.130593035C=CA1288363522CFC1c.514G= (p.Ala172=)
c.399G= (p.Ala133=)
c.289G= (p.Ala97=)
2g.130593035C>GCA348502814CFC1c.514G>C (p.Ala172Pro)
c.399G>C (p.Ala133=)
c.289G>C (p.Ala97Pro)
2g.130593035C>TCA348502813CFC1c.514G>A (p.Ala172Thr)
c.399G>A (p.Ala133=)
c.289G>A (p.Ala97Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.130593035_130593048delinsCGCTCGGCCCGTGACA1288363523CFC1c.501_514delinsTCACGGGCCGAGCG (p.Ala167=)
c.386_399delinsTCACGGGCCGAGCG (p.Leu129=)
c.276_289delinsTCACGGGCCGAGCG (p.Ala92=)
2g.130593036G>ACA348502816CFC1c.513C>T (p.Ser171=)
c.398C>T (p.Ala133Val)
c.288C>T (p.Ser96=)
 gnomAD v4
2g.130593036G>CCA348502818CFC1c.513C>G (p.Ser171Arg)
c.398C>G (p.Ala133Gly)
c.288C>G (p.Ser96Arg)
2g.130593036G>TCA348502821CFC1c.513C>A (p.Ser171Arg)
c.398C>A (p.Ala133Glu)
c.288C>A (p.Ser96Arg)
 gnomAD v4
2g.130593038_130593050delCA756946380CFC1c.501_513del (p.His168ProfsTer?)
c.386_398del (p.Leu129ArgfsTer?)
c.276_288del (p.His93ProfsTer?)
 dbSNP
2g.130593037C>ACA348502823CFC1c.512G>T (p.Ser171Ile)
c.397G>T (p.Ala133Ser)
c.287G>T (p.Ser96Ile)
 dbSNP
2g.130593037C=CA1288363524CFC1c.512G= (p.Ser171=)
c.397G= (p.Ala133=)
c.287G= (p.Ser96=)
2g.130593037C>GCA348502825CFC1c.512G>C (p.Ser171Thr)
c.397G>C (p.Ala133Pro)
c.287G>C (p.Ser96Thr)
2g.130593037C>TCA348502827CFC1c.512G>A (p.Ser171Asn)
c.397G>A (p.Ala133Thr)
c.287G>A (p.Ser96Asn)
 gnomAD v4
2g.130593038T>ACA348502830CFC1c.511A>T (p.Ser171Cys)
c.396A>T (p.Arg132=)
c.286A>T (p.Ser96Cys)
2g.130593038T>CCA348502832CFC1c.511A>G (p.Ser171Gly)
c.396A>G (p.Arg132=)
c.286A>G (p.Ser96Gly)
 gnomAD v4
2g.130593038T>GCA348502835CFC1c.511A>C (p.Ser171Arg)
c.396A>C (p.Arg132=)
c.286A>C (p.Ser96Arg)
2g.130593038T=CA1288363525CFC1c.511A= (p.Ser171=)
c.396A= (p.Arg132=)
c.286A= (p.Ser96=)
2g.130593039C>ACA348502840CFC1c.510G>T (p.Pro170=)
c.395G>T (p.Arg132Leu)
c.285G>T (p.Pro95=)
2g.130593039C=CA1288363526CFC1c.510G= (p.Pro170=)
c.395G= (p.Arg132=)
c.285G= (p.Pro95=)
2g.130593039C>GCA348502842CFC1c.510G>C (p.Pro170=)
c.395G>C (p.Arg132Pro)
c.285G>C (p.Pro95=)
 dbSNP gnomAD v3 gnomAD v4
2g.130593039C>TCA348502837CFC1c.510G>A (p.Pro170=)
c.395G>A (p.Arg132Gln)
c.285G>A (p.Pro95=)
 dbSNP gnomAD v4
2g.130593040_130593043dupCA536070255CFC1c.507_510dup (p.Ser171AlafsTer?)
c.392_395dup (p.Ala133ProfsTer?)
c.282_285dup (p.Ser96AlafsTer?)
 dbSNP gnomAD v2 gnomAD v4
2g.130593039_130593040insACA536070256CFC1c.509_510insT (p.Ser171GlufsTer?)
c.394_395insT (p.Arg132LeufsTer?)
c.284_285insT (p.Ser96GlufsTer?)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.130593040G>ACA348502845CFC1c.509C>T (p.Pro170Leu)
c.394C>T (p.Arg132Ter)
c.284C>T (p.Pro95Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.130593040G>CCA348502847CFC1c.509C>G (p.Pro170Arg)
c.394C>G (p.Arg132Gly)
c.284C>G (p.Pro95Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.130593040G=CA1288363527CFC1c.509C= (p.Pro170=)
c.394C= (p.Arg132=)
c.284C= (p.Pro95=)
2g.130593040G>TCA348502848CFC1c.509C>A (p.Pro170Gln)
c.394C>A (p.Arg132=)
c.284C>A (p.Pro95Gln)
2g.130593041G>ACA348502849CFC1c.508C>T (p.Pro170Ser)
c.393C>T (p.Gly131=)
c.283C>T (p.Pro95Ser)
2g.130593041G>CCA348502850CFC1c.508C>G (p.Pro170Ala)
c.393C>G (p.Gly131=)
c.283C>G (p.Pro95Ala)
2g.130593041G=CA1288363528CFC1c.508C= (p.Pro170=)
c.393C= (p.Gly131=)
c.283C= (p.Pro95=)
2g.130593041G>TCA348502852CFC1c.508C>A (p.Pro170Thr)
c.393C>A (p.Gly131=)
c.283C>A (p.Pro95Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.130593041_130593042delinsGCCA1288363529CFC1c.507_508delinsGC (p.Gly169=)
c.392_393delinsGC (p.Gly131=)
c.282_283delinsGC (p.Gly94=)
2g.130593042C>ACA348502854CFC1c.507G>T (p.Gly169=)
c.392G>T (p.Gly131Val)
c.282G>T (p.Gly94=)
2g.130593042C>GCA348502857CFC1c.507G>C (p.Gly169=)
c.392G>C (p.Gly131Ala)
c.282G>C (p.Gly94=)
2g.130593042C>TCA348502858CFC1c.507G>A (p.Gly169=)
c.392G>A (p.Gly131Asp)
c.282G>A (p.Gly94=)
2g.130593044delCA536070257CFC1c.507del (p.Pro170ArgfsTer?)
c.392del (p.Gly131AlafsTer?)
c.282del (p.Pro95ArgfsTer?)
 dbSNP gnomAD v2 gnomAD v4
2g.130593043C>ACA348502859CFC1c.506G>T (p.Gly169Val)
c.391G>T (p.Gly131Cys)
c.281G>T (p.Gly94Val)
2g.130593043C>GCA348502861CFC1c.506G>C (p.Gly169Ala)
c.391G>C (p.Gly131Arg)
c.281G>C (p.Gly94Ala)
2g.130593043C>TCA348502863CFC1c.506G>A (p.Gly169Glu)
c.391G>A (p.Gly131Ser)
c.281G>A (p.Gly94Glu)
2g.130593044C>ACA348502871CFC1c.505G>T (p.Gly169Trp)
c.390G>T (p.Thr130=)
c.280G>T (p.Gly94Trp)
 gnomAD v4
2g.130593044C=CA1288363530CFC1c.505G= (p.Gly169=)
c.390G= (p.Thr130=)
c.280G= (p.Gly94=)
2g.130593044C>GCA348502866CFC1c.505G>C (p.Gly169Arg)
c.390G>C (p.Thr130=)
c.280G>C (p.Gly94Arg)
 dbSNP gnomAD v4
2g.130593044C>TCA348502869CFC1c.505G>A (p.Gly169Arg)
c.390G>A (p.Thr130=)
c.280G>A (p.Gly94Arg)
 dbSNP gnomAD v4
2g.130593045G>ACA348502873CFC1c.504C>T (p.His168=)
c.389C>T (p.Thr130Met)
c.279C>T (p.His93=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.130593045G>CCA348502876CFC1c.504C>G (p.His168Gln)
c.389C>G (p.Thr130Arg)
c.279C>G (p.His93Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.130593045G=CA1288363531CFC1c.504C= (p.His168=)
c.389C= (p.Thr130=)
c.279C= (p.His93=)
2g.130593045G>TCA348502888CFC1c.504C>A (p.His168Gln)
c.389C>A (p.Thr130Lys)
c.279C>A (p.His93Gln)
2g.130593046T>ACA348502890CFC1c.503A>T (p.His168Leu)
c.388A>T (p.Thr130Ser)
c.278A>T (p.His93Leu)
2g.130593046T>CCA348502891CFC1c.503A>G (p.His168Arg)
c.388A>G (p.Thr130Ala)
c.278A>G (p.His93Arg)
2g.130593046T>GCA348502893CFC1c.503A>C (p.His168Pro)
c.388A>C (p.Thr130Pro)
c.278A>C (p.His93Pro)
2g.130593047G>ACA348502895CFC1c.502C>T (p.His168Tyr)
c.387C>T (p.Leu129=)
c.277C>T (p.His93Tyr)
2g.130593047G>CCA348502897CFC1c.502C>G (p.His168Asp)
c.387C>G (p.Leu129=)
c.277C>G (p.His93Asp)
2g.130593047G>TCA348502898CFC1c.502C>A (p.His168Asn)
c.387C>A (p.Leu129=)
c.277C>A (p.His93Asn)

Number of alleles fetched