Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.69035772_69035877delCA2690187648FXNc.-11_95del
 gnomAD v4
9g.69035816C>ACA373527295FXNc.34C>A (p.Leu12Ile)
c.32C>A
 dbSNP gnomAD v2 gnomAD v4
9g.69035816C=CA1854034935FXNc.34C= (p.Leu12=)
c.32C=
9g.69035816C>GCA373527297FXNc.34C>G (p.Leu12Val)
c.32C>G
 ClinVar dbSNP gnomAD v4
9g.69035816C>TCA373527296FXNc.34C>T (p.Leu12Phe)
c.32C>T
9g.69035817T>ACA373527298FXNc.35T>A (p.Leu12His)
c.33T>A
9g.69035817T>CCA373527299FXNc.35T>C (p.Leu12Pro)
c.33T>C
 gnomAD v4
9g.69035817T>GCA373527300FXNc.35T>G (p.Leu12Arg)
c.33T>G
9g.69035818C>ACA465233079FXNc.36C>A (p.Leu12=)
c.34C>A
 gnomAD v4
9g.69035818C=CA1854034936FXNc.36C= (p.Leu12=)
c.34C=
9g.69035818C>GCA465233083FXNc.36C>G (p.Leu12=)
c.34C>G
9g.69035818C>TCA465233081FXNc.36C>T (p.Leu12=)
c.34C>T
 dbSNP gnomAD v2 gnomAD v4
9g.69035819C>ACA373527301FXNc.37C>A (p.Leu13Met)
c.35C>A
9g.69035819C>GCA373527302FXNc.37C>G (p.Leu13Val)
c.35C>G
9g.69035819C>TCA465233087FXNc.37C>T (p.Leu13=)
c.35C>T
 gnomAD v4
9g.69035820T>ACA373527303FXNc.38T>A (p.Leu13Gln)
c.36T>A
 dbSNP gnomAD v2 gnomAD v4
9g.69035820T>CCA373527304FXNc.38T>C (p.Leu13Pro)
c.36T>C
 gnomAD v4
9g.69035820T>GCA373527305FXNc.38T>G (p.Leu13Arg)
c.36T>G
9g.69035820T=CA1854034937FXNc.38T= (p.Leu13=)
c.36T=
9g.69035821G>ACA465233096FXNc.39G>A (p.Leu13=)
c.37G>A
 gnomAD v4
9g.69035821G>CCA465233098FXNc.39G>C (p.Leu13=)
c.37G>C
9g.69035821G>TCA465233095FXNc.39G>T (p.Leu13=)
c.37G>T
 gnomAD v4
9g.69035822delCA2690187673FXNc.40del (p.Ala14ArgfsTer?)
c.38del
 gnomAD v4
9g.69035822G>ACA373527306FXNc.40G>A (p.Ala14Thr)
c.38G>A
 gnomAD v4
9g.69035822G>CCA373527307FXNc.40G>C (p.Ala14Pro)
c.38G>C
9g.69035822G>TCA373527308FXNc.40G>T (p.Ala14Ser)
c.38G>T
9g.69035823C>ACA5072635FXNc.41C>A (p.Ala14Glu)
c.39C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.69035823C=CA1854034938FXNc.41C= (p.Ala14=)
c.39C=
9g.69035823C>GCA373527310FXNc.41C>G (p.Ala14Gly)
c.39C>G
9g.69035823C>TCA373527309FXNc.41C>T (p.Ala14Val)
c.39C>T
 ClinVar gnomAD v4
9g.69035824G>ACA465233111FXNc.42G>A (p.Ala14=)
c.40G>A
 gnomAD v4
9g.69035824G>CCA465233110FXNc.42G>C (p.Ala14=)
c.40G>C
 gnomAD v4
9g.69035824G>TCA465233113FXNc.42G>T (p.Ala14=)
c.40G>T
 gnomAD v4
9g.69035824dupCA2690187674FXNc.42dup (p.Ser15ValfsTer?)
c.40dup
 gnomAD v4
9g.69035825delCA2690187675FXNc.43del (p.Ser15HisfsTer?)
c.41del
 gnomAD v4
9g.69035825T>ACA373527311FXNc.43T>A (p.Ser15Thr)
c.41T>A
9g.69035825T>CCA373527312FXNc.43T>C (p.Ser15Pro)
c.41T>C
9g.69035825T>GCA373527313FXNc.43T>G (p.Ser15Ala)
c.41T>G
 gnomAD v4
9g.69035826C>ACA373527315FXNc.44C>A (p.Ser15Ter)
c.42C>A
9g.69035826C>GCA373527316FXNc.44C>G (p.Ser15Ter)
c.42C>G
 gnomAD v4
9g.69035826C>TCA373527317FXNc.44C>T (p.Ser15Leu)
c.42C>T
 gnomAD v4
9g.69035827A>CCA465233124FXNc.45A>C (p.Ser15=)
c.43A>C
 dbSNP
9g.69035827A>GCA465233122FXNc.45A>G (p.Ser15=)
c.43A>G
 gnomAD v4
9g.69035827A>TCA465233123FXNc.45A>T (p.Ser15=)
c.43A>T
9g.69035828C>ACA373527319FXNc.46C>A (p.Pro16Thr)
c.44C>A
9g.69035828C=CA1854034939FXNc.46C= (p.Pro16=)
c.44C=
9g.69035828C>GCA373527320FXNc.46C>G (p.Pro16Ala)
c.44C>G
9g.69035828C>TCA373527322FXNc.46C>T (p.Pro16Ser)
c.44C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.69035829C>ACA373527323FXNc.47C>A (p.Pro16His)
c.45C>A
 dbSNP gnomAD v2 gnomAD v4
9g.69035829C=CA1854034940FXNc.47C= (p.Pro16=)
c.45C=
9g.69035829C>GCA373527325FXNc.47C>G (p.Pro16Arg)
c.45C>G
9g.69035829C>TCA373527326FXNc.47C>T (p.Pro16Leu)
c.45C>T
 gnomAD v4
9g.69035830C>ACA465233128FXNc.48C>A (p.Pro16=)
c.46C>A
 gnomAD v4
9g.69035830C=CA1854034941FXNc.48C= (p.Pro16=)
c.46C=
9g.69035830C>GCA465233130FXNc.48C>G (p.Pro16=)
c.46C>G
 dbSNP gnomAD v2 gnomAD v4
9g.69035830C>TCA465233127FXNc.48C>T (p.Pro16=)
c.46C>T
 gnomAD v4
9g.69035831A=CA1854034942FXNc.49A= (p.Ser17=)
c.47A=
9g.69035831A>CCA373527329FXNc.49A>C (p.Ser17Arg)
c.47A>C
9g.69035831A>GCA373527331FXNc.49A>G (p.Ser17Gly)
c.47A>G
 gnomAD v4
9g.69035831A>TCA373527328FXNc.49A>T (p.Ser17Cys)
c.47A>T
9g.69035832G>ACA373527334FXNc.50G>A (p.Ser17Asn)
c.48G>A
 gnomAD v4
9g.69035832G>CCA373527337FXNc.50G>C (p.Ser17Thr)
c.48G>C
 dbSNP
9g.69035832G=CA1854034943FXNc.50G= (p.Ser17=)
c.48G=
9g.69035832G>TCA373527339FXNc.50G>T (p.Ser17Ile)
c.48G>T
 ClinVar gnomAD v4
9g.69035835_69035836insGGCCCCA5072636FXNc.53_54insGGCCC (p.Ala21ProfsTer?)
c.51_52insGGCCC
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.69035833C>ACA373527342FXNc.51C>A (p.Ser17Arg)
c.49C>A
 gnomAD v4
9g.69035833C=CA1854034944FXNc.51C= (p.Ser17=)
c.49C=
9g.69035833C>GCA373527343FXNc.51C>G (p.Ser17Arg)
c.49C>G
9g.69035833C>TCA465233132FXNc.51C>T (p.Ser17=)
c.49C>T
 dbSNP gnomAD v2 gnomAD v4
9g.69035834C>ACA373527345FXNc.52C>A (p.Pro18Thr)
c.50C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.69035834C=CA1854034945FXNc.52C= (p.Pro18=)
c.50C=
9g.69035834C>GCA373527348FXNc.52C>G (p.Pro18Ala)
c.50C>G
 dbSNP gnomAD v3 gnomAD v4
9g.69035834C>TCA373527346FXNc.52C>T (p.Pro18Ser)
c.50C>T
9g.69035835C>ACA373527350FXNc.53C>A (p.Pro18Gln)
c.51C>A
 gnomAD v4
9g.69035835C=CA1854034946FXNc.53C= (p.Pro18=)
c.51C=
9g.69035835C>GCA373527352FXNc.53C>G (p.Pro18Arg)
c.51C>G
9g.69035835C>TCA373527353FXNc.53C>T (p.Pro18Leu)
c.51C>T
 gnomAD v4
9g.69035835_69035836insGGCCCACA1854034947FXNc.53_54insGGCCCA (p.Pro18_Ala19insAlaGln)
c.51_52insGGCCCA
 dbSNP
9g.69035836A=CA1854034948FXNc.54A= (p.Pro18=)
c.52A=
9g.69035836A>CCA465233134FXNc.54A>C (p.Pro18=)
c.52A>C
 gnomAD v4
9g.69035836A>GCA152917FXNc.54A>G (p.Pro18=)
c.52A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.69035836A>TCA465233135FXNc.54A>T (p.Pro18=)
c.52A>T
 dbSNP gnomAD v4
9g.69035837G>ACA373527360FXNc.55G>A (p.Ala19Thr)
c.53G>A
 ClinVar gnomAD v4
9g.69035837G>CCA373527359FXNc.55G>C (p.Ala19Pro)
c.53G>C
 gnomAD v4
9g.69035837G=CA1854034949FXNc.55G= (p.Ala19=)
c.53G=
9g.69035837G>TCA373527357FXNc.55G>T (p.Ala19Ser)
c.53G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.69035837dupCA5072637FXNc.55dup (p.Ala19GlyfsTer?)
c.53dup
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.69035838C>ACA373527363FXNc.56C>A (p.Ala19Asp)
c.54C>A
 gnomAD v4
9g.69035838C>GCA373527361FXNc.56C>G (p.Ala19Gly)
c.54C>G
9g.69035838C>TCA373527362FXNc.56C>T (p.Ala19Val)
c.54C>T
 gnomAD v4
9g.69035839C>ACA465233137FXNc.57C>A (p.Ala19=)
c.55C>A
 dbSNP gnomAD v2 gnomAD v4
9g.69035839C=CA1854034950FXNc.57C= (p.Ala19=)
c.55C=
9g.69035839C>GCA465233139FXNc.57C>G (p.Ala19=)
c.55C>G
9g.69035839C>TCA465233138FXNc.57C>T (p.Ala19=)
c.55C>T
 gnomAD v4
9g.69035840C>ACA373527365FXNc.58C>A (p.Gln20Lys)
c.56C>A
 gnomAD v4
9g.69035840C>GCA373527367FXNc.58C>G (p.Gln20Glu)
c.56C>G
9g.69035840C>TCA373527368FXNc.58C>T (p.Gln20Ter)
c.56C>T
9g.69035841A>CCA373527370FXNc.59A>C (p.Gln20Pro)
c.57A>C
 gnomAD v4
9g.69035841A>GCA373527372FXNc.59A>G (p.Gln20Arg)
c.57A>G
 gnomAD v4
9g.69035841A>TCA373527373FXNc.59A>T (p.Gln20Leu)
c.57A>T
9g.69035842G>ACA465233140FXNc.60G>A (p.Gln20=)
c.58G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.69035842G>CCA373527375FXNc.60G>C (p.Gln20His)
c.58G>C
 gnomAD v4
9g.69035842G=CA1854034951FXNc.60G= (p.Gln20=)
c.58G=
9g.69035842G>TCA373527376FXNc.60G>T (p.Gln20His)
c.58G>T
9g.69035843G>ACA373527378FXNc.61G>A (p.Ala21Thr)
c.59G>A
 gnomAD v4
9g.69035843G>CCA373527380FXNc.61G>C (p.Ala21Pro)
c.59G>C
9g.69035843G=CA1854034952FXNc.61G= (p.Ala21=)
c.59G=
9g.69035843G>TCA373527382FXNc.61G>T (p.Ala21Ser)
c.59G>T
 gnomAD v4
9g.69035844C>ACA373527386FXNc.62C>A (p.Ala21Asp)
c.60C>A
 dbSNP
9g.69035844C=CA1854034953FXNc.62C= (p.Ala21=)
c.60C=
9g.69035844C>GCA373527384FXNc.62C>G (p.Ala21Gly)
c.60C>G
9g.69035844C>TCA373527383FXNc.62C>T (p.Ala21Val)
c.60C>T
 dbSNP gnomAD v4
9g.69035847_69035852dupCA1125110218FXNc.65_70dup (p.Thr23_Leu24insGlnThr)
c.63_68dup
 dbSNP gnomAD v3 gnomAD v4
9g.69035845C>ACA465233142FXNc.63C>A (p.Ala21=)
c.61C>A
9g.69035845C>GCA465233141FXNc.63C>G (p.Ala21=)
c.61C>G
9g.69035845C>TCA465233143FXNc.63C>T (p.Ala21=)
c.61C>T
9g.69035846C>ACA373527388FXNc.64C>A (p.Gln22Lys)
c.62C>A
 gnomAD v4
9g.69035846C>GCA373527390FXNc.64C>G (p.Gln22Glu)
c.62C>G
 gnomAD v4
9g.69035846C>TCA373527392FXNc.64C>T (p.Gln22Ter)
c.62C>T
9g.69035847A=CA1854034954FXNc.65A= (p.Gln22=)
c.63A=
9g.69035847A>CCA373527394FXNc.65A>C (p.Gln22Pro)
c.63A>C
9g.69035847A>GCA373527396FXNc.65A>G (p.Gln22Arg)
c.63A>G
 dbSNP gnomAD v3 gnomAD v4
9g.69035847A>TCA373527397FXNc.65A>T (p.Gln22Leu)
c.63A>T
 gnomAD v4
9g.69035848G>ACA465233144FXNc.66G>A (p.Gln22=)
c.64G>A
 gnomAD v4
9g.69035848G>CCA373527399FXNc.66G>C (p.Gln22His)
c.64G>C
 gnomAD v4
9g.69035848G>TCA373527401FXNc.66G>T (p.Gln22His)
c.64G>T
 gnomAD v4
9g.69035848_69035853dupCA588647901FXNc.66_71dup (p.Leu24_Thr25insThrLeu)
c.64_69dup
 dbSNP gnomAD v2 gnomAD v4
9g.69035849A=CA1854034955FXNc.67A= (p.Thr23=)
c.65A=
9g.69035849A>CCA373527402FXNc.67A>C (p.Thr23Pro)
c.65A>C
 gnomAD v4
9g.69035849A>GCA5072638FXNc.67A>G (p.Thr23Ala)
c.65A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.69035849A>TCA373527405FXNc.67A>T (p.Thr23Ser)
c.65A>T
9g.69035850C>ACA373527407FXNc.68C>A (p.Thr23Asn)
c.66C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.69035850C=CA1854034956FXNc.68C= (p.Thr23=)
c.66C=
9g.69035850C>GCA373527408FXNc.68C>G (p.Thr23Ser)
c.66C>G
 dbSNP gnomAD v2 gnomAD v4
9g.69035850C>TCA5072639FXNc.68C>T (p.Thr23Ile)
c.66C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.69035851C>ACA465233145FXNc.69C>A (p.Thr23=)
c.67C>A
9g.69035851C=CA1854034957FXNc.69C= (p.Thr23=)
c.67C=
9g.69035851C>GCA465233147FXNc.69C>G (p.Thr23=)
c.67C>G
 gnomAD v4
9g.69035851C>TCA465233146FXNc.69C>T (p.Thr23=)
c.67C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.69035852C>ACA373527412FXNc.70C>A (p.Leu24Ile)
c.68C>A
 gnomAD v4
9g.69035852C=CA1854034958FXNc.70C= (p.Leu24=)
c.68C=
9g.69035852C>GCA373527413FXNc.70C>G (p.Leu24Val)
c.68C>G
9g.69035852C>TCA193368970FXNc.70C>T (p.Leu24Phe)
c.68C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.69035853T>ACA373527415FXNc.71T>A (p.Leu24His)
c.69T>A
9g.69035853T>CCA373527417FXNc.71T>C (p.Leu24Pro)
c.69T>C
 gnomAD v4
9g.69035853T>GCA373527418FXNc.71T>G (p.Leu24Arg)
c.69T>G
9g.69035854delCA2690187676FXNc.72del (p.Thr25ProfsTer?)
c.70del
 gnomAD v4
9g.69035854C>ACA465233148FXNc.72C>A (p.Leu24=)
c.70C>A
 gnomAD v4
9g.69035854C=CA1854034959FXNc.72C= (p.Leu24=)
c.70C=
9g.69035854C>GCA465233149FXNc.72C>G (p.Leu24=)
c.70C>G
9g.69035854C>TCA465233150FXNc.72C>T (p.Leu24=)
c.70C>T
 dbSNP
9g.69035855A=CA1854034960FXNc.73A= (p.Thr25=)
c.71A=
9g.69035855A>CCA373527420FXNc.73A>C (p.Thr25Pro)
c.71A>C
 gnomAD v4
9g.69035855A>GCA373527422FXNc.73A>G (p.Thr25Ala)
c.71A>G
 dbSNP gnomAD v4
9g.69035855A>TCA373527424FXNc.73A>T (p.Thr25Ser)
c.71A>T
9g.69035856C>ACA373527427FXNc.74C>A (p.Thr25Asn)
c.72C>A
 dbSNP gnomAD v2 gnomAD v4
9g.69035856C=CA1854034961FXNc.74C= (p.Thr25=)
c.72C=
9g.69035856C>GCA373527429FXNc.74C>G (p.Thr25Ser)
c.72C>G
9g.69035856C>TCA373527431FXNc.74C>T (p.Thr25Ile)
c.72C>T
 gnomAD v4
9g.69035857C>ACA465233151FXNc.75C>A (p.Thr25=)
c.73C>A
9g.69035857C>GCA465233152FXNc.75C>G (p.Thr25=)
c.73C>G
9g.69035857C>TCA465233153FXNc.75C>T (p.Thr25=)
c.73C>T
 gnomAD v4
9g.69035858C>ACA5072640FXNc.76C>A (p.Arg26=)
c.74C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.69035858C=CA1854034962FXNc.76C= (p.Arg26=)
c.74C=
9g.69035858C>GCA373527433FXNc.76C>G (p.Arg26Gly)
c.74C>G
 gnomAD v4
9g.69035858C>TCA373527435FXNc.76C>T (p.Arg26Trp)
c.74C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.69035859G>ACA373527439FXNc.77G>A (p.Arg26Gln)
c.75G>A
 dbSNP gnomAD v2 gnomAD v4
9g.69035859G>CCA373527437FXNc.77G>C (p.Arg26Pro)
c.75G>C
 gnomAD v4
9g.69035859G=CA1854034963FXNc.77G= (p.Arg26=)
c.75G=
9g.69035859G>TCA373527438FXNc.77G>T (p.Arg26Leu)
c.75G>T
 gnomAD v4
9g.69035861delCA2690187677FXNc.79del (p.Val27SerfsTer?)
c.77del
 gnomAD v4
9g.69035860G>ACA465233155FXNc.78G>A (p.Arg26=)
c.76G>A
 gnomAD v4
9g.69035860G>CCA465233154FXNc.78G>C (p.Arg26=)
c.76G>C
 gnomAD v4
9g.69035860G=CA1854034964FXNc.78G= (p.Arg26=)
c.76G=
9g.69035860G>TCA465233156FXNc.78G>T (p.Arg26=)
c.76G>T
 dbSNP gnomAD v2 gnomAD v4
9g.69035861G>ACA373527441FXNc.79G>A (p.Val27Ile)
c.77G>A
 gnomAD v4
9g.69035861G>CCA373527443FXNc.79G>C (p.Val27Leu)
c.77G>C
9g.69035861G=CA1854034965FXNc.79G= (p.Val27=)
c.77G=
9g.69035861G>TCA373527445FXNc.79G>T (p.Val27Phe)
c.77G>T
 dbSNP gnomAD v4
9g.69035862T>ACA373527447FXNc.80T>A (p.Val27Asp)
c.78T>A
9g.69035862T>CCA373527448FXNc.80T>C (p.Val27Ala)
c.78T>C
 gnomAD v4
9g.69035862T>GCA373527450FXNc.80T>G (p.Val27Gly)
c.78T>G
9g.69035863C>ACA465233159FXNc.81C>A (p.Val27=)
c.79C>A
 gnomAD v4
9g.69035863C=CA1854034966FXNc.81C= (p.Val27=)
c.79C=
9g.69035863C>GCA465233157FXNc.81C>G (p.Val27=)
c.79C>G
9g.69035863C>TCA465233158FXNc.81C>T (p.Val27=)
c.79C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.69035864C>ACA373527451FXNc.82C>A (p.Pro28Thr)
c.80C>A
 gnomAD v4
9g.69035864C>GCA373527452FXNc.82C>G (p.Pro28Ala)
c.80C>G
9g.69035864C>TCA373527453FXNc.82C>T (p.Pro28Ser)
c.80C>T
 gnomAD v4
9g.69035865C>ACA373527454FXNc.83C>A (p.Pro28Gln)
c.81C>A
 gnomAD v4
9g.69035865C=CA1854034967FXNc.83C= (p.Pro28=)
c.81C=
9g.69035865C>GCA373527456FXNc.83C>G (p.Pro28Arg)
c.81C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.69035865C>TCA373527458FXNc.83C>T (p.Pro28Leu)
c.81C>T
 gnomAD v4
9g.69035866G>ACA465233162FXNc.84G>A (p.Pro28=)
c.82G>A
 dbSNP gnomAD v3 gnomAD v4
9g.69035866G>CCA465233161FXNc.84G>C (p.Pro28=)
c.82G>C
 dbSNP
9g.69035866G=CA1854034968FXNc.84G= (p.Pro28=)
c.82G=
9g.69035866G>TCA465233160FXNc.84G>T (p.Pro28=)
c.82G>T
 gnomAD v4
9g.69035866_69035867insGGGGGGGGGGGGGGGGCA2690187678FXNc.84_85insGGGGGGGGGGGGGGGG (p.Arg29GlyfsTer?)
c.84_85insGGGGGGGGGGGGGGGG (p.Arg29GlyfsTer34)
c.82_83insGGGGGGGGGGGGGGGG
c.84_85insGGGGGGGGGGGGGGGG (p.Arg29GlyfsTer35)
 gnomAD v4
9g.69035866_69035867insGGGGGGGGGGGGGGGGGCA2690187679FXNc.84_85insGGGGGGGGGGGGGGGGG (p.Arg29GlyfsTer?)
c.82_83insGGGGGGGGGGGGGGGGG
 gnomAD v4
9g.69035866_69035867insGGGGGGGGGGGGGGGGGGCA2690187680FXNc.84_85insGGGGGGGGGGGGGGGGGG (p.Pro28_Arg29insGlyGlyGlyGlyGlyGly)
c.82_83insGGGGGGGGGGGGGGGGGG
 gnomAD v4
9g.69035867C>ACA465233163FXNc.85C>A (p.Arg29=)
c.83C>A
9g.69035867C>GCA373527460FXNc.85C>G (p.Arg29Gly)
c.83C>G
 dbSNP gnomAD v4
9g.69035867C>TCA373527462FXNc.85C>T (p.Arg29Trp)
c.83C>T
 gnomAD v4
9g.69035868G>ACA373527463FXNc.86G>A (p.Arg29Gln)
c.84G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.69035868G>CCA373527465FXNc.86G>C (p.Arg29Pro)
c.84G>C
 gnomAD v4
9g.69035868G=CA1854034969FXNc.86G= (p.Arg29=)
c.84G=
9g.69035868G>TCA373527464FXNc.86G>T (p.Arg29Leu)
c.84G>T
 dbSNP gnomAD v4
9g.69035869G>ACA5072641FXNc.87G>A (p.Arg29=)
c.85G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.69035869G>CCA465233165FXNc.87G>C (p.Arg29=)
c.85G>C
 dbSNP gnomAD v4
9g.69035869G=CA1854034970FXNc.87G= (p.Arg29=)
c.85G=
9g.69035869G>TCA465233164FXNc.87G>T (p.Arg29=)
c.85G>T
 gnomAD v4
9g.69035870C>ACA373527466FXNc.88C>A (p.Pro30Thr)
c.86C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.69035870C=CA1854034971FXNc.88C= (p.Pro30=)
c.86C=
9g.69035870C>GCA373527467FXNc.88C>G (p.Pro30Ala)
c.86C>G
 dbSNP gnomAD v4
9g.69035870C>TCA373527469FXNc.88C>T (p.Pro30Ser)
c.86C>T
 gnomAD v4
9g.69035871C>ACA373527475FXNc.89C>A (p.Pro30Gln)
c.87C>A
 dbSNP gnomAD v2 gnomAD v4
9g.69035871C=CA1854034972FXNc.89C= (p.Pro30=)
c.87C=
9g.69035871C>GCA373527478FXNc.89C>G (p.Pro30Arg)
c.87C>G
9g.69035871C>TCA373527479FXNc.89C>T (p.Pro30Leu)
c.87C>T
 dbSNP gnomAD v4
9g.69035872G>ACA5072642FXNc.90G>A (p.Pro30=)
c.88G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.69035872G>CCA193368982FXNc.90G>C (p.Pro30=)
c.88G>C
 dbSNP gnomAD v4
9g.69035872G=CA1854034973FXNc.90G= (p.Pro30=)
c.88G=
9g.69035872G>TCA465233166FXNc.90G>T (p.Pro30=)
c.88G>T
 gnomAD v4
9g.69035873delCA2514643067FXNc.91del (p.Ala31GlnfsTer?)
c.89del
 gnomAD v4
9g.69035873G>ACA373527481FXNc.91G>A (p.Ala31Thr)
c.89G>A
 gnomAD v4
9g.69035873G>CCA373527483FXNc.91G>C (p.Ala31Pro)
c.89G>C
 gnomAD v4
9g.69035873G>TCA373527486FXNc.91G>T (p.Ala31Ser)
c.89G>T
 gnomAD v4
9g.69035874C>ACA373527493FXNc.92C>A (p.Ala31Glu)
c.90C>A
 gnomAD v4
9g.69035874C>GCA373527491FXNc.92C>G (p.Ala31Gly)
c.90C>G
 dbSNP gnomAD v4
9g.69035874C>TCA373527489FXNc.92C>T (p.Ala31Val)
c.90C>T
 gnomAD v4
9g.69035875A>CCA465233168FXNc.93A>C (p.Ala31=)
c.91A>C
 dbSNP gnomAD v3 gnomAD v4
9g.69035875A>GCA465233169FXNc.93A>G (p.Ala31=)
c.91A>G
 gnomAD v4
9g.69035875A>TCA465233167FXNc.93A>T (p.Ala31=)
c.91A>T
9g.69035876G>ACA373527496FXNc.94G>A (p.Glu32Lys)
c.92G>A
 dbSNP gnomAD v2 gnomAD v4
9g.69035876G>CCA193369007FXNc.94G>C (p.Glu32Gln)
c.92G>C
 dbSNP gnomAD v3 gnomAD v4
9g.69035876G=CA1854034974FXNc.94G= (p.Glu32=)
c.92G=
9g.69035876G>TCA373527498FXNc.94G>T (p.Glu32Ter)
c.92G>T
 gnomAD v4
9g.69035877A>CCA373527499FXNc.95A>C (p.Glu32Ala)
c.93A>C
 gnomAD v4
9g.69035877A>GCA373527500FXNc.95A>G (p.Glu32Gly)
c.93A>G
 gnomAD v4
9g.69035877A>TCA373527502FXNc.95A>T (p.Glu32Val)
c.93A>T
9g.69035878G>ACA465233170FXNc.96G>A (p.Glu32=)
c.94G>A
 gnomAD v4
9g.69035878G>CCA373527503FXNc.96G>C (p.Glu32Asp)
c.94G>C
 gnomAD v4
9g.69035878G>TCA373527505FXNc.96G>T (p.Glu32Asp)
c.94G>T
 gnomAD v4
9g.69035879T>ACA373527508FXNc.97T>A (p.Leu33Met)
c.95T>A
9g.69035879T>CCA465233171FXNc.97T>C (p.Leu33=)
c.95T>C
 ClinVar dbSNP gnomAD v4
9g.69035879T>GCA5072643FXNc.97T>G (p.Leu33Val)
c.95T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.69035879T=CA1854034975FXNc.97T= (p.Leu33=)
c.95T=
9g.69035880T>ACA373527520FXNc.98T>A (p.Leu33Ter)
c.96T>A
9g.69035880T>CCA373527521FXNc.98T>C (p.Leu33Ser)
c.96T>C
9g.69035880T>GCA373527523FXNc.98T>G (p.Leu33Trp)
c.96T>G
 gnomAD v4
9g.69035880_69035881delinsTGCA1854034976FXNc.98_99delinsTG (p.Leu33=)
c.96_97delinsTG
9g.69035881G>ACA465233172FXNc.99G>A (p.Leu33=)
c.97G>A
 gnomAD v4
9g.69035881G>CCA373527524FXNc.99G>C (p.Leu33Phe)
c.97G>C
9g.69035881G>TCA373527527FXNc.99G>T (p.Leu33Phe)
c.97G>T
 gnomAD v4
9g.69035882delCA193369008FXNc.100del (p.Ala34ProfsTer?)
c.98del
 dbSNP gnomAD v4
9g.69035882G>ACA373527529FXNc.100G>A (p.Ala34Thr)
c.98G>A
 gnomAD v4
9g.69035882G>CCA373527530FXNc.100G>C (p.Ala34Pro)
c.98G>C
 gnomAD v4
9g.69035882G>TCA373527532FXNc.100G>T (p.Ala34Ser)
c.98G>T
9g.69035882_69035883delinsGCCA1854034977FXNc.100_101delinsGC (p.Ala34=)
c.98_99delinsGC
9g.69035883C>ACA373527536FXNc.101C>A (p.Ala34Asp)
c.99C>A
 gnomAD v4
9g.69035883C>GCA373527537FXNc.101C>G (p.Ala34Gly)
c.99C>G
 gnomAD v4
9g.69035883C>TCA373527541FXNc.101C>T (p.Ala34Val)
c.99C>T
 gnomAD v4
9g.69035886delCA193369020FXNc.104del (p.Pro35HisfsTer?)
c.102del
 dbSNP gnomAD v4
9g.69035884C>ACA465233175FXNc.102C>A (p.Ala34=)
c.100C>A
9g.69035884C>GCA465233173FXNc.102C>G (p.Ala34=)
c.100C>G
9g.69035884C>TCA465233174FXNc.102C>T (p.Ala34=)
c.100C>T
 gnomAD v4
9g.69035885C>ACA373527542FXNc.103C>A (p.Pro35Thr)
c.101C>A
 gnomAD v4
9g.69035885C>GCA373527545FXNc.103C>G (p.Pro35Ala)
c.101C>G
9g.69035885C>TCA373527546FXNc.103C>T (p.Pro35Ser)
c.101C>T
 gnomAD v4
9g.69035885_69035886insACA2784519248FXNc.103_104insA (p.Pro35HisfsTer?)
c.103_104insA (p.Pro35HisfsTer23)
c.101_102insA
c.103_104insA (p.Pro35HisfsTer24)
9g.69035886C>ACA373527549FXNc.104C>A (p.Pro35Gln)
c.102C>A
 gnomAD v4
9g.69035886C=CA1854034978FXNc.104C= (p.Pro35=)
c.102C=
9g.69035886C>GCA373527551FXNc.104C>G (p.Pro35Arg)
c.102C>G
9g.69035886C>TCA373527554FXNc.104C>T (p.Pro35Leu)
c.102C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.69035887A=CA1854034979FXNc.105A= (p.Pro35=)
c.103A=
9g.69035887A>CCA465233178FXNc.105A>C (p.Pro35=)
c.103A>C
 ClinVar gnomAD v4
9g.69035887A>GCA465233177FXNc.105A>G (p.Pro35=)
c.103A>G
 dbSNP gnomAD v3 gnomAD v4
9g.69035887A>TCA465233176FXNc.105A>T (p.Pro35=)
c.103A>T
9g.69035888C>ACA373527561FXNc.106C>A (p.Leu36Ile)
c.104C>A
 gnomAD v4
9g.69035888C>GCA373527564FXNc.106C>G (p.Leu36Val)
c.104C>G
 gnomAD v4
9g.69035888C>TCA373527559FXNc.106C>T (p.Leu36Phe)
c.104C>T
 gnomAD v4
9g.69035889T>ACA373527566FXNc.107T>A (p.Leu36His)
c.105T>A
 dbSNP gnomAD v4
9g.69035889T>CCA373527568FXNc.107T>C (p.Leu36Pro)
c.105T>C
 gnomAD v4
9g.69035889T>GCA373527570FXNc.107T>G (p.Leu36Arg)
c.105T>G
9g.69035890C>ACA465233181FXNc.108C>A (p.Leu36=)
c.106C>A
 dbSNP gnomAD v4
9g.69035890C=CA1854034980FXNc.108C= (p.Leu36=)
c.106C=
9g.69035890C>GCA465233179FXNc.108C>G (p.Leu36=)
c.106C>G
 gnomAD v4
9g.69035890C>TCA465233180FXNc.108C>T (p.Leu36=)
c.106C>T
 gnomAD v4
9g.69035891T>ACA373527574FXNc.109T>A (p.Cys37Ser)
c.107T>A
9g.69035891T>CCA373527576FXNc.109T>C (p.Cys37Arg)
c.107T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.69035891T>GCA373527577FXNc.109T>G (p.Cys37Gly)
c.107T>G
9g.69035891T=CA1854034981FXNc.109T= (p.Cys37=)
c.107T=
9g.69035892G>ACA373527580FXNc.110G>A (p.Cys37Tyr)
c.108G>A
 gnomAD v4
9g.69035892G>CCA373527585FXNc.110G>C (p.Cys37Ser)
c.108G>C
9g.69035892G>TCA373527582FXNc.110G>T (p.Cys37Phe)
c.108G>T
 gnomAD v4
9g.69035893C>ACA373527587FXNc.111C>A (p.Cys37Ter)
c.109C>A
 gnomAD v4
9g.69035893C>GCA373527590FXNc.111C>G (p.Cys37Trp)
c.109C>G
 gnomAD v4
9g.69035893C>TCA465233182FXNc.111C>T (p.Cys37=)
c.109C>T
 gnomAD v4
9g.69035893dupCA2579347226FXNc.111dup (p.Gly38ArgfsTer?)
c.111dup (p.Gly38ArgfsTer20)
c.109dup
c.111dup (p.Gly38ArgfsTer21)
 gnomAD v4
9g.69035894G>ACA193369039FXNc.112G>A (p.Gly38Ser)
c.110G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.69035894G>CCA373527593FXNc.112G>C (p.Gly38Arg)
c.110G>C
9g.69035894G=CA1854034982FXNc.112G= (p.Gly38=)
c.110G=
9g.69035894G>TCA193369045FXNc.112G>T (p.Gly38Cys)
c.110G>T
 dbSNP gnomAD v4
9g.69035895G>ACA373527600FXNc.113G>A (p.Gly38Asp)
c.111G>A
 gnomAD v4
9g.69035895G>CCA373527602FXNc.113G>C (p.Gly38Ala)
c.111G>C
 gnomAD v4
9g.69035895G>TCA373527597FXNc.113G>T (p.Gly38Val)
c.111G>T
 gnomAD v4
9g.69035896C>ACA465233184FXNc.114C>A (p.Gly38=)
c.112C>A
 gnomAD v4
9g.69035896C>GCA465233185FXNc.114C>G (p.Gly38=)
c.112C>G
9g.69035896C>TCA465233183FXNc.114C>T (p.Gly38=)
c.112C>T
 gnomAD v4
9g.69035897C>ACA373527604FXNc.115C>A (p.Arg39Ser)
c.113C>A
 gnomAD v4
9g.69035897C=CA1854034983FXNc.115C= (p.Arg39=)
c.113C=
9g.69035897C>GCA373527609FXNc.115C>G (p.Arg39Gly)
c.113C>G
9g.69035897C>TCA193369050FXNc.115C>T (p.Arg39Cys)
c.113C>T
 dbSNP gnomAD v3 gnomAD v4
9g.69035898G>ACA373527613FXNc.116G>A (p.Arg39His)
c.114G>A
 dbSNP gnomAD v4
9g.69035898G>CCA373527616FXNc.116G>C (p.Arg39Pro)
c.114G>C
 gnomAD v4
9g.69035898G=CA1854034985FXNc.116G= (p.Arg39=)
c.114G=
9g.69035898G>TCA373527615FXNc.116G>T (p.Arg39Leu)
c.114G>T
 dbSNP gnomAD v4
9g.69035898_69035899delinsGCCA1854034984FXNc.116_117delinsGC (p.Arg39=)
c.114_115delinsGC
9g.69035899C>ACA465233187FXNc.117C>A (p.Arg39=)
c.115C>A
9g.69035899C=CA1854034986FXNc.117C= (p.Arg39=)
c.115C=
9g.69035899C>GCA465233186FXNc.117C>G (p.Arg39=)
c.115C>G
 gnomAD v4
9g.69035899C>TCA193369078FXNc.117C>T (p.Arg39=)
c.115C>T
 dbSNP gnomAD v3 gnomAD v4
9g.69035900delCA193369056FXNc.118del (p.Arg40ValfsTer?)
c.118del (p.Arg40ValfsTer27)
c.116del
 dbSNP
9g.69035900C>ACA373527618FXNc.118C>A (p.Arg40Ser)
c.116C>A
 gnomAD v4
9g.69035900C=CA1854034987FXNc.118C= (p.Arg40=)
c.116C=
9g.69035900C>GCA373527622FXNc.118C>G (p.Arg40Gly)
c.116C>G
9g.69035900C>TCA10587675FXNc.118C>T (p.Arg40Cys)
c.116C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.69035901G>ACA373527628FXNc.119G>A (p.Arg40His)
c.117G>A
 gnomAD v4
9g.69035901G>CCA373527632FXNc.119G>C (p.Arg40Pro)
c.117G>C
9g.69035901G>TCA373527630FXNc.119G>T (p.Arg40Leu)
c.117G>T
 gnomAD v4
9g.69035902T>ACA465233188FXNc.120T>A (p.Arg40=)
c.118T>A
9g.69035902T>CCA465233190FXNc.120T>C (p.Arg40=)
c.118T>C
 gnomAD v4
9g.69035902T>GCA465233189FXNc.120T>G (p.Arg40=)
c.118T>G
 dbSNP
9g.69035903G>ACA373527635FXNc.121G>A (p.Gly41Ser)
c.119G>A
 dbSNP gnomAD v4
9g.69035903G>CCA373527639FXNc.121G>C (p.Gly41Arg)
c.119G>C
 dbSNP gnomAD v3 gnomAD v4
9g.69035903G=CA1854034988FXNc.121G= (p.Gly41=)
c.119G=
9g.69035903G>TCA373527637FXNc.121G>T (p.Gly41Cys)
c.119G>T
 gnomAD v4
9g.69035904G>ACA373527641FXNc.122G>A (p.Gly41Asp)
c.120G>A
 gnomAD v4
9g.69035904G>CCA373527647FXNc.122G>C (p.Gly41Ala)
c.120G>C
9g.69035904G=CA1854034989FXNc.122G= (p.Gly41=)
c.120G=
9g.69035904G>TCA373527644FXNc.122G>T (p.Gly41Val)
c.120G>T
 dbSNP gnomAD v3 gnomAD v4
9g.69035905C>ACA465233192FXNc.123C>A (p.Gly41=)
c.121C>A
 gnomAD v4
9g.69035905C=CA1854034990FXNc.123C= (p.Gly41=)
c.121C=
9g.69035905C>GCA465233191FXNc.123C>G (p.Gly41=)
c.121C>G
9g.69035905C>TCA16043768FXNc.123C>T (p.Gly41=)
c.121C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.69035906C>ACA373527651FXNc.124C>A (p.Leu42Met)
c.122C>A
 gnomAD v4
9g.69035906C>GCA373527654FXNc.124C>G (p.Leu42Val)
c.122C>G
 gnomAD v4
9g.69035906C>TCA465233193FXNc.124C>T (p.Leu42=)
c.122C>T
 gnomAD v4
9g.69035907T>ACA373527656FXNc.125T>A (p.Leu42Gln)
c.123T>A
 gnomAD v4
9g.69035907T>CCA373527657FXNc.125T>C (p.Leu42Pro)
c.123T>C
 gnomAD v4
9g.69035907T>GCA193369082FXNc.125T>G (p.Leu42Arg)
c.123T>G
 ClinVar dbSNP gnomAD v4
9g.69035907T=CA1854034991FXNc.125T= (p.Leu42=)
c.123T=
9g.69035908G>ACA465233196FXNc.126G>A (p.Leu42=)
c.124G>A
 gnomAD v4
9g.69035908G>CCA465233195FXNc.126G>C (p.Leu42=)
c.124G>C
9g.69035908G>TCA465233194FXNc.126G>T (p.Leu42=)
c.124G>T
 gnomAD v4
9g.69035909C>ACA373527669FXNc.127C>A (p.Arg43Ser)
c.125C>A
 gnomAD v4
9g.69035909C=CA1854034992FXNc.127C= (p.Arg43=)
c.125C=
9g.69035909C>GCA373527666FXNc.127C>G (p.Arg43Gly)
c.125C>G
9g.69035909C>TCA373527661FXNc.127C>T (p.Arg43Cys)
c.125C>T
 dbSNP gnomAD v2 gnomAD v4
9g.69035912_69035936dupCA2690187681FXNc.130_154dup (p.Pro52HisfsTer?)
c.130_154dup (p.Pro52HisfsTer14)
c.128_152dup
c.130_154dup (p.Pro52HisfsTer15)
 gnomAD v4
9g.69035910G>ACA5072644FXNc.128G>A (p.Arg43His)
c.126G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.69035910G>CCA373527674FXNc.128G>C (p.Arg43Pro)
c.126G>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.69035910G=CA1854034993FXNc.128G= (p.Arg43=)
c.126G=
9g.69035910G>TCA373527676FXNc.128G>T (p.Arg43Leu)
c.126G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.69035911C>ACA465233199FXNc.129C>A (p.Arg43=)
c.127C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.69035911C=CA1854034994FXNc.129C= (p.Arg43=)
c.127C=
9g.69035911C>GCA465233198FXNc.129C>G (p.Arg43=)
c.127C>G
 gnomAD v4
9g.69035911C>TCA465233197FXNc.129C>T (p.Arg43=)
c.127C>T
9g.69035912A=CA1854034995FXNc.130A= (p.Thr44=)
c.128A=
9g.69035912A>CCA373527679FXNc.130A>C (p.Thr44Pro)
c.128A>C
 dbSNP gnomAD v2 gnomAD v4
9g.69035912A>GCA373527682FXNc.130A>G (p.Thr44Ala)
c.128A>G
9g.69035912A>TCA373527683FXNc.130A>T (p.Thr44Ser)
c.128A>T
 gnomAD v4
9g.69035913C>ACA193369109FXNc.131C>A (p.Thr44Asn)
c.129C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.69035913C=CA1854034996FXNc.131C= (p.Thr44=)
c.129C=
9g.69035913C>GCA373527689FXNc.131C>G (p.Thr44Ser)
c.129C>G
 gnomAD v4
9g.69035913C>TCA373527687FXNc.131C>T (p.Thr44Ile)
c.129C>T
 dbSNP
9g.69035914C>ACA465233201FXNc.132C>A (p.Thr44=)
c.130C>A
 dbSNP gnomAD v4
9g.69035914C=CA1854034997FXNc.132C= (p.Thr44=)
c.130C=
9g.69035914C>GCA465233200FXNc.132C>G (p.Thr44=)
c.130C>G
 gnomAD v4
9g.69035914C>TCA465233202FXNc.132C>T (p.Thr44=)
c.130C>T
 dbSNP gnomAD v4
9g.69035918_69035928dupCA16622137FXNc.136_146dup (p.Cys50SerfsTer30)
c.136_146dup (p.Cys50SerfsTer21)
c.134_144dup
c.136_146dup (p.Cys50SerfsTer?)
9g.69035915G>ACA5072645FXNc.133G>A (p.Asp45Asn)
c.131G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.69035915G>CCA373527692FXNc.133G>C (p.Asp45His)
c.131G>C
 dbSNP gnomAD v3 gnomAD v4
9g.69035915G=CA1854034998FXNc.133G= (p.Asp45=)
c.131G=
9g.69035915G>TCA373527694FXNc.133G>T (p.Asp45Tyr)
c.131G>T
 gnomAD v4
9g.69035916A>CCA373527696FXNc.134A>C (p.Asp45Ala)
c.132A>C
9g.69035916A>GCA373527697FXNc.134A>G (p.Asp45Gly)
c.132A>G
 dbSNP gnomAD v4
9g.69035916A>TCA373527699FXNc.134A>T (p.Asp45Val)
c.132A>T

Number of alleles fetched