Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.1804460T>ACA337914447GNB1c.350A>T (p.Glu117Val)
c.89A>T (p.Glu30Val)
c.389A>T (p.Glu130Val)
c.257A>T (p.Glu86Val)
n.993A>T
1g.1804460T>CCA337914448GNB1c.350A>G (p.Glu117Gly)
c.89A>G (p.Glu30Gly)
c.389A>G (p.Glu130Gly)
c.257A>G (p.Glu86Gly)
n.993A>G
1g.1804460T>GCA337914451GNB1c.350A>C (p.Glu117Ala)
c.89A>C (p.Glu30Ala)
c.389A>C (p.Glu130Ala)
c.257A>C (p.Glu86Ala)
n.993A>C
1g.1804461C>ACA337914455GNB1c.349G>T (p.Glu117Ter)
c.88G>T (p.Glu30Ter)
c.388G>T (p.Glu130Ter)
c.256G>T (p.Glu86Ter)
n.992G>T
1g.1804461C=CA1149323343GNB1c.349G= (p.Glu117=)
c.88G= (p.Glu30=)
c.388G= (p.Glu130=)
c.256G= (p.Glu86=)
n.992G=
1g.1804461C>GCA337914459GNB1c.349G>C (p.Glu117Gln)
c.88G>C (p.Glu30Gln)
c.388G>C (p.Glu130Gln)
c.256G>C (p.Glu86Gln)
n.992G>C
1g.1804461C>TCA337914460GNB1c.349G>A (p.Glu117Lys)
c.88G>A (p.Glu30Lys)
c.388G>A (p.Glu130Lys)
c.256G>A (p.Glu86Lys)
n.992G>A
 ClinVar dbSNP
1g.1804462A>CCA415404127GNB1c.348T>G (p.Arg116=)
c.87T>G (p.Arg29=)
c.387T>G (p.Arg129=)
c.255T>G (p.Arg85=)
n.991T>G
1g.1804462A>GCA415404128GNB1c.348T>C (p.Arg116=)
c.87T>C (p.Arg29=)
c.387T>C (p.Arg129=)
c.255T>C (p.Arg85=)
n.991T>C
1g.1804462A>TCA415404129GNB1c.348T>A (p.Arg116=)
c.87T>A (p.Arg29=)
c.387T>A (p.Arg129=)
c.255T>A (p.Arg85=)
n.991T>A
1g.1804463C>ACA337914471GNB1c.347G>T (p.Arg116Leu)
c.86G>T (p.Arg29Leu)
c.386G>T (p.Arg129Leu)
c.254G>T (p.Arg85Leu)
n.990G>T
1g.1804463C=CA1149323344GNB1c.347G= (p.Arg116=)
c.86G= (p.Arg29=)
c.386G= (p.Arg129=)
c.254G= (p.Arg85=)
n.990G=
1g.1804463C>GCA337914468GNB1c.347G>C (p.Arg116Pro)
c.86G>C (p.Arg29Pro)
c.386G>C (p.Arg129Pro)
c.254G>C (p.Arg85Pro)
n.990G>C
1g.1804463C>TCA337914465GNB1c.347G>A (p.Arg116His)
c.86G>A (p.Arg29His)
c.386G>A (p.Arg129His)
c.254G>A (p.Arg85His)
n.990G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.1804464G>ACA337914476GNB1c.346C>T (p.Arg116Cys)
c.85C>T (p.Arg29Cys)
c.385C>T (p.Arg129Cys)
c.253C>T (p.Arg85Cys)
n.989C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.1804464G>CCA337914479GNB1c.346C>G (p.Arg116Gly)
c.85C>G (p.Arg29Gly)
c.385C>G (p.Arg129Gly)
c.253C>G (p.Arg85Gly)
n.989C>G
1g.1804464G=CA1149323345GNB1c.346C= (p.Arg116=)
c.85C= (p.Arg29=)
c.385C= (p.Arg129=)
c.253C= (p.Arg85=)
n.989C=
1g.1804464G>TCA337914481GNB1c.346C>A (p.Arg116Ser)
c.85C>A (p.Arg29Ser)
c.385C>A (p.Arg129Ser)
c.253C>A (p.Arg85Ser)
n.989C>A
1g.1804465A>CCA415404130GNB1c.345T>G (p.Thr115=)
c.84T>G (p.Thr28=)
c.384T>G (p.Thr128=)
c.252T>G (p.Thr84=)
n.988T>G
1g.1804465A>GCA415404131GNB1c.345T>C (p.Thr115=)
c.84T>C (p.Thr28=)
c.384T>C (p.Thr128=)
c.252T>C (p.Thr84=)
n.988T>C
1g.1804465A>TCA415404132GNB1c.345T>A (p.Thr115=)
c.84T>A (p.Thr28=)
c.384T>A (p.Thr128=)
c.252T>A (p.Thr84=)
n.988T>A
1g.1804466G>ACA337914485GNB1c.344C>T (p.Thr115Ile)
c.83C>T (p.Thr28Ile)
c.383C>T (p.Thr128Ile)
c.251C>T (p.Thr84Ile)
n.987C>T
 dbSNP
1g.1804466G>CCA337914496GNB1c.344C>G (p.Thr115Ser)
c.83C>G (p.Thr28Ser)
c.383C>G (p.Thr128Ser)
c.251C>G (p.Thr84Ser)
n.987C>G
1g.1804466G=CA1149323346GNB1c.344C= (p.Thr115=)
c.83C= (p.Thr28=)
c.383C= (p.Thr128=)
c.251C= (p.Thr84=)
n.987C=
1g.1804466G>TCA337914499GNB1c.344C>A (p.Thr115Asn)
c.83C>A (p.Thr28Asn)
c.383C>A (p.Thr128Asn)
c.251C>A (p.Thr84Asn)
n.987C>A
1g.1804467T>ACA337914522GNB1c.343A>T (p.Thr115Ser)
c.82A>T (p.Thr28Ser)
c.382A>T (p.Thr128Ser)
c.250A>T (p.Thr84Ser)
n.986A>T
1g.1804467T>CCA337914527GNB1c.343A>G (p.Thr115Ala)
c.82A>G (p.Thr28Ala)
c.382A>G (p.Thr128Ala)
c.250A>G (p.Thr84Ala)
n.986A>G
1g.1804467T>GCA337914524GNB1c.343A>C (p.Thr115Pro)
c.82A>C (p.Thr28Pro)
c.382A>C (p.Thr128Pro)
c.250A>C (p.Thr84Pro)
n.986A>C
1g.1804468T>ACA337914529GNB1c.342A>T (p.Lys114Asn)
c.81A>T (p.Lys27Asn)
c.381A>T (p.Lys127Asn)
c.249A>T (p.Lys83Asn)
n.985A>T
1g.1804468T>CCA415404133GNB1c.342A>G (p.Lys114=)
c.81A>G (p.Lys27=)
c.381A>G (p.Lys127=)
c.249A>G (p.Lys83=)
n.985A>G
1g.1804468T>GCA337914532GNB1c.342A>C (p.Lys114Asn)
c.81A>C (p.Lys27Asn)
c.381A>C (p.Lys127Asn)
c.249A>C (p.Lys83Asn)
n.985A>C
1g.1804469T>ACA337914537GNB1c.341A>T (p.Lys114Ile)
c.80A>T (p.Lys27Ile)
c.380A>T (p.Lys127Ile)
c.248A>T (p.Lys83Ile)
n.984A>T
1g.1804469T>CCA337914539GNB1c.341A>G (p.Lys114Arg)
c.80A>G (p.Lys27Arg)
c.380A>G (p.Lys127Arg)
c.248A>G (p.Lys83Arg)
n.984A>G
1g.1804469T>GCA337914543GNB1c.341A>C (p.Lys114Thr)
c.80A>C (p.Lys27Thr)
c.380A>C (p.Lys127Thr)
c.248A>C (p.Lys83Thr)
n.984A>C
1g.1804470T>ACA337914550GNB1c.340A>T (p.Lys114Ter)
c.79A>T (p.Lys27Ter)
c.379A>T (p.Lys127Ter)
c.247A>T (p.Lys83Ter)
n.983A>T
1g.1804470T>CCA337914561GNB1c.340A>G (p.Lys114Glu)
c.79A>G (p.Lys27Glu)
c.379A>G (p.Lys127Glu)
c.247A>G (p.Lys83Glu)
n.983A>G
1g.1804470T>GCA337914564GNB1c.340A>C (p.Lys114Gln)
c.79A>C (p.Lys27Gln)
c.379A>C (p.Lys127Gln)
c.247A>C (p.Lys83Gln)
n.983A>C
1g.1804471C>ACA415404135GNB1c.339G>T (p.Leu113=)
c.78G>T (p.Leu26=)
c.378G>T (p.Leu126=)
c.246G>T (p.Leu82=)
n.982G>T
1g.1804471C=CA1149323347GNB1c.339G= (p.Leu113=)
c.78G= (p.Leu26=)
c.378G= (p.Leu126=)
c.246G= (p.Leu82=)
n.982G=
1g.1804471C>GCA415404134GNB1c.339G>C (p.Leu113=)
c.78G>C (p.Leu26=)
c.378G>C (p.Leu126=)
c.246G>C (p.Leu82=)
n.982G>C
1g.1804471C>TCA16827544GNB1c.339G>A (p.Leu113=)
c.78G>A (p.Leu26=)
c.378G>A (p.Leu126=)
c.246G>A (p.Leu82=)
n.982G>A
 dbSNP
1g.1804472A=CA1149323348GNB1c.338T= (p.Leu113=)
c.77T= (p.Leu26=)
c.377T= (p.Leu126=)
c.245T= (p.Leu82=)
n.981T=
1g.1804472A>CCA337914567GNB1c.338T>G (p.Leu113Arg)
c.77T>G (p.Leu26Arg)
c.377T>G (p.Leu126Arg)
c.245T>G (p.Leu82Arg)
n.981T>G
1g.1804472A>GCA337914570GNB1c.338T>C (p.Leu113Pro)
c.77T>C (p.Leu26Pro)
c.377T>C (p.Leu126Pro)
c.245T>C (p.Leu82Pro)
n.981T>C
1g.1804472A>TCA16827545GNB1c.338T>A (p.Leu113Gln)
c.77T>A (p.Leu26Gln)
c.377T>A (p.Leu126Gln)
c.245T>A (p.Leu82Gln)
n.981T>A
 dbSNP
1g.1804473G>ACA415404136GNB1c.337C>T (p.Leu113=)
c.76C>T (p.Leu26=)
c.376C>T (p.Leu126=)
c.244C>T (p.Leu82=)
n.980C>T
1g.1804473G>CCA337914577GNB1c.337C>G (p.Leu113Val)
c.76C>G (p.Leu26Val)
c.376C>G (p.Leu126Val)
c.244C>G (p.Leu82Val)
n.980C>G
 dbSNP
1g.1804473G=CA1149323349GNB1c.337C= (p.Leu113=)
c.76C= (p.Leu26=)
c.376C= (p.Leu126=)
c.244C= (p.Leu82=)
n.980C=
1g.1804473G>TCA337914584GNB1c.337C>A (p.Leu113Met)
c.76C>A (p.Leu26Met)
c.376C>A (p.Leu126Met)
c.244C>A (p.Leu82Met)
n.980C>A
1g.1804474A>CCA337914590GNB1c.336T>G (p.Asn112Lys)
c.75T>G (p.Asn25Lys)
c.375T>G (p.Asn125Lys)
c.243T>G (p.Asn81Lys)
n.979T>G
1g.1804474A>GCA415404137GNB1c.336T>C (p.Asn112=)
c.75T>C (p.Asn25=)
c.375T>C (p.Asn125=)
c.243T>C (p.Asn81=)
n.979T>C
1g.1804474A>TCA337914593GNB1c.336T>A (p.Asn112Lys)
c.75T>A (p.Asn25Lys)
c.375T>A (p.Asn125Lys)
c.243T>A (p.Asn81Lys)
n.979T>A
1g.1804475T>ACA337914601GNB1c.335A>T (p.Asn112Ile)
c.74A>T (p.Asn25Ile)
c.374A>T (p.Asn125Ile)
c.242A>T (p.Asn81Ile)
n.978A>T
 dbSNP
1g.1804475T>CCA532045GNB1c.335A>G (p.Asn112Ser)
c.74A>G (p.Asn25Ser)
c.374A>G (p.Asn125Ser)
c.242A>G (p.Asn81Ser)
n.978A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1804475T>GCA337914605GNB1c.335A>C (p.Asn112Thr)
c.74A>C (p.Asn25Thr)
c.374A>C (p.Asn125Thr)
c.242A>C (p.Asn81Thr)
n.978A>C
1g.1804475T=CA1142375769GNB1c.335A= (p.Asn112=)
c.74A= (p.Asn25=)
c.374A= (p.Asn125=)
c.242A= (p.Asn81=)
n.978A=
1g.1804476T>ACA337914613GNB1c.334A>T (p.Asn112Tyr)
c.73A>T (p.Asn25Tyr)
c.373A>T (p.Asn125Tyr)
c.241A>T (p.Asn81Tyr)
n.977A>T
1g.1804476T>CCA337914619GNB1c.334A>G (p.Asn112Asp)
c.73A>G (p.Asn25Asp)
c.373A>G (p.Asn125Asp)
c.241A>G (p.Asn81Asp)
n.977A>G
1g.1804476T>GCA337914616GNB1c.334A>C (p.Asn112His)
c.73A>C (p.Asn25His)
c.373A>C (p.Asn125His)
c.241A>C (p.Asn81His)
n.977A>C
1g.1804477G>ACA415404138GNB1c.333C>T (p.Tyr111=)
c.72C>T (p.Tyr24=)
c.372C>T (p.Tyr124=)
c.240C>T (p.Tyr80=)
n.976C>T
1g.1804477G>CCA337914620GNB1c.333C>G (p.Tyr111Ter)
c.72C>G (p.Tyr24Ter)
c.372C>G (p.Tyr124Ter)
c.240C>G (p.Tyr80Ter)
n.976C>G
1g.1804477G>TCA337914621GNB1c.333C>A (p.Tyr111Ter)
c.72C>A (p.Tyr24Ter)
c.372C>A (p.Tyr124Ter)
c.240C>A (p.Tyr80Ter)
n.976C>A
1g.1804478T>ACA337914623GNB1c.332A>T (p.Tyr111Phe)
c.71A>T (p.Tyr24Phe)
c.371A>T (p.Tyr124Phe)
c.239A>T (p.Tyr80Phe)
n.975A>T
1g.1804478T>CCA337914625GNB1c.332A>G (p.Tyr111Cys)
c.71A>G (p.Tyr24Cys)
c.371A>G (p.Tyr124Cys)
c.239A>G (p.Tyr80Cys)
n.975A>G
1g.1804478T>GCA337914628GNB1c.332A>C (p.Tyr111Ser)
c.71A>C (p.Tyr24Ser)
c.371A>C (p.Tyr124Ser)
c.239A>C (p.Tyr80Ser)
n.975A>C
1g.1804479A>CCA337914631GNB1c.331T>G (p.Tyr111Asp)
c.70T>G (p.Tyr24Asp)
c.370T>G (p.Tyr124Asp)
c.238T>G (p.Tyr80Asp)
n.974T>G
1g.1804479A>GCA337914639GNB1c.331T>C (p.Tyr111His)
c.70T>C (p.Tyr24His)
c.370T>C (p.Tyr124His)
c.238T>C (p.Tyr80His)
n.974T>C
1g.1804479A>TCA337914642GNB1c.331T>A (p.Tyr111Asn)
c.70T>A (p.Tyr24Asn)
c.370T>A (p.Tyr124Asn)
c.238T>A (p.Tyr80Asn)
n.974T>A
1g.1804480A>CCA337914645GNB1c.330T>G (p.Ile110Met)
c.69T>G (p.Ile23Met)
c.369T>G (p.Ile123Met)
c.237T>G (p.Ile79Met)
n.973T>G
1g.1804480A>GCA415404139GNB1c.330T>C (p.Ile110=)
c.69T>C (p.Ile23=)
c.369T>C (p.Ile123=)
c.237T>C (p.Ile79=)
n.973T>C
1g.1804480A>TCA415404140GNB1c.330T>A (p.Ile110=)
c.69T>A (p.Ile23=)
c.369T>A (p.Ile123=)
c.237T>A (p.Ile79=)
n.973T>A
1g.1804481A>CCA337914650GNB1c.329T>G (p.Ile110Ser)
c.68T>G (p.Ile23Ser)
c.368T>G (p.Ile123Ser)
c.236T>G (p.Ile79Ser)
n.972T>G
1g.1804481A>GCA337914654GNB1c.329T>C (p.Ile110Thr)
c.68T>C (p.Ile23Thr)
c.368T>C (p.Ile123Thr)
c.236T>C (p.Ile79Thr)
n.972T>C
 gnomAD v4
1g.1804481A>TCA337914656GNB1c.329T>A (p.Ile110Asn)
c.68T>A (p.Ile23Asn)
c.368T>A (p.Ile123Asn)
c.236T>A (p.Ile79Asn)
n.972T>A
1g.1804482T>ACA337914660GNB1c.328A>T (p.Ile110Phe)
c.67A>T (p.Ile23Phe)
c.367A>T (p.Ile123Phe)
c.235A>T (p.Ile79Phe)
n.971A>T
1g.1804482T>CCA337914661GNB1c.328A>G (p.Ile110Val)
c.67A>G (p.Ile23Val)
c.367A>G (p.Ile123Val)
c.235A>G (p.Ile79Val)
n.971A>G
 gnomAD v4
1g.1804482T>GCA337914662GNB1c.328A>C (p.Ile110Leu)
c.67A>C (p.Ile23Leu)
c.367A>C (p.Ile123Leu)
c.235A>C (p.Ile79Leu)
n.971A>C
1g.1804483G>ACA415404141GNB1c.327C>T (p.Ser109=)
c.66C>T (p.Ser22=)
c.366C>T (p.Ser122=)
c.234C>T (p.Ser78=)
n.970C>T
 ClinVar gnomAD v4
1g.1804483G>CCA415404143GNB1c.327C>G (p.Ser109=)
c.66C>G (p.Ser22=)
c.366C>G (p.Ser122=)
c.234C>G (p.Ser78=)
n.970C>G
1g.1804483G>TCA415404142GNB1c.327C>A (p.Ser109=)
c.66C>A (p.Ser22=)
c.366C>A (p.Ser122=)
c.234C>A (p.Ser78=)
n.970C>A
1g.1804484G>ACA337914663GNB1c.326C>T (p.Ser109Phe)
c.65C>T (p.Ser22Phe)
c.365C>T (p.Ser122Phe)
c.233C>T (p.Ser78Phe)
n.969C>T
 COSMIC
1g.1804484G>CCA337914670GNB1c.326C>G (p.Ser109Cys)
c.65C>G (p.Ser22Cys)
c.365C>G (p.Ser122Cys)
c.233C>G (p.Ser78Cys)
n.969C>G
1g.1804484G>TCA337914666GNB1c.326C>A (p.Ser109Tyr)
c.65C>A (p.Ser22Tyr)
c.365C>A (p.Ser122Tyr)
c.233C>A (p.Ser78Tyr)
n.969C>A
1g.1804485A>CCA337914684GNB1c.325T>G (p.Ser109Ala)
c.64T>G (p.Ser22Ala)
c.364T>G (p.Ser122Ala)
c.232T>G (p.Ser78Ala)
n.968T>G
1g.1804485A>GCA337914687GNB1c.325T>C (p.Ser109Pro)
c.64T>C (p.Ser22Pro)
c.364T>C (p.Ser122Pro)
c.232T>C (p.Ser78Pro)
n.968T>C
1g.1804485A>TCA337914690GNB1c.325T>A (p.Ser109Thr)
c.64T>A (p.Ser22Thr)
c.364T>A (p.Ser122Thr)
c.232T>A (p.Ser78Thr)
n.968T>A
1g.1804486G>ACA16827548GNB1c.324C>T (p.Cys108=)
c.63C>T (p.Cys21=)
c.363C>T (p.Cys121=)
c.231C>T (p.Cys77=)
n.967C>T
 dbSNP gnomAD v4
1g.1804486G>CCA337914695GNB1c.324C>G (p.Cys108Trp)
c.63C>G (p.Cys21Trp)
c.363C>G (p.Cys121Trp)
c.231C>G (p.Cys77Trp)
n.967C>G
1g.1804486G=CA1143633503GNB1c.324C= (p.Cys108=)
c.63C= (p.Cys21=)
c.363C= (p.Cys121=)
c.231C= (p.Cys77=)
n.967C=
1g.1804486G>TCA337914697GNB1c.324C>A (p.Cys108Ter)
c.63C>A (p.Cys21Ter)
c.363C>A (p.Cys121Ter)
c.231C>A (p.Cys77Ter)
n.967C>A
1g.1804487C>ACA337914701GNB1c.323G>T (p.Cys108Phe)
c.62G>T (p.Cys21Phe)
c.362G>T (p.Cys121Phe)
c.230G>T (p.Cys77Phe)
n.966G>T
1g.1804487C>GCA337914703GNB1c.323G>C (p.Cys108Ser)
c.62G>C (p.Cys21Ser)
c.362G>C (p.Cys121Ser)
c.230G>C (p.Cys77Ser)
n.966G>C
1g.1804487C>TCA337914706GNB1c.323G>A (p.Cys108Tyr)
c.62G>A (p.Cys21Tyr)
c.362G>A (p.Cys121Tyr)
c.230G>A (p.Cys77Tyr)
n.966G>A
1g.1804488A>CCA337914715GNB1c.322T>G (p.Cys108Gly)
c.61T>G (p.Cys21Gly)
c.361T>G (p.Cys121Gly)
c.229T>G (p.Cys77Gly)
n.965T>G
1g.1804488A>GCA337914711GNB1c.322T>C (p.Cys108Arg)
c.61T>C (p.Cys21Arg)
c.361T>C (p.Cys121Arg)
c.229T>C (p.Cys77Arg)
n.965T>C
1g.1804488A>TCA337914709GNB1c.322T>A (p.Cys108Ser)
c.61T>A (p.Cys21Ser)
c.361T>A (p.Cys121Ser)
c.229T>A (p.Cys77Ser)
n.965T>A
1g.1804489A>CCA337914721GNB1c.321T>G (p.Ile107Met)
c.60T>G (p.Ile20Met)
c.360T>G (p.Ile120Met)
c.228T>G (p.Ile76Met)
n.964T>G
1g.1804489A>GCA415404144GNB1c.321T>C (p.Ile107=)
c.60T>C (p.Ile20=)
c.360T>C (p.Ile120=)
c.228T>C (p.Ile76=)
n.964T>C
1g.1804489A>TCA415404145GNB1c.321T>A (p.Ile107=)
c.60T>A (p.Ile20=)
c.360T>A (p.Ile120=)
c.228T>A (p.Ile76=)
n.964T>A
1g.1804490A>CCA337914728GNB1c.320T>G (p.Ile107Ser)
c.59T>G (p.Ile20Ser)
c.359T>G (p.Ile120Ser)
c.227T>G (p.Ile76Ser)
n.963T>G
1g.1804490A>GCA337914731GNB1c.320T>C (p.Ile107Thr)
c.59T>C (p.Ile20Thr)
c.359T>C (p.Ile120Thr)
c.227T>C (p.Ile76Thr)
n.963T>C
1g.1804490A>TCA337914735GNB1c.320T>A (p.Ile107Asn)
c.59T>A (p.Ile20Asn)
c.359T>A (p.Ile120Asn)
c.227T>A (p.Ile76Asn)
n.963T>A
1g.1804491T>ACA337914738GNB1c.319A>T (p.Ile107Phe)
c.58A>T (p.Ile20Phe)
c.358A>T (p.Ile120Phe)
c.226A>T (p.Ile76Phe)
n.962A>T
1g.1804491T>CCA337914742GNB1c.319A>G (p.Ile107Val)
c.58A>G (p.Ile20Val)
c.358A>G (p.Ile120Val)
c.226A>G (p.Ile76Val)
n.962A>G
1g.1804491T>GCA337914747GNB1c.319A>C (p.Ile107Leu)
c.58A>C (p.Ile20Leu)
c.358A>C (p.Ile120Leu)
c.226A>C (p.Ile76Leu)
n.962A>C
1g.1804492G>ACA415404146GNB1c.318C>T (p.Asn106=)
c.57C>T (p.Asn19=)
c.357C>T (p.Asn119=)
c.225C>T (p.Asn75=)
n.961C>T
 dbSNP gnomAD v4
1g.1804492G>CCA337914750GNB1c.318C>G (p.Asn106Lys)
c.57C>G (p.Asn19Lys)
c.357C>G (p.Asn119Lys)
c.225C>G (p.Asn75Lys)
n.961C>G
1g.1804492G=CA1149323350GNB1c.318C= (p.Asn106=)
c.57C= (p.Asn19=)
c.357C= (p.Asn119=)
c.225C= (p.Asn75=)
n.961C=
1g.1804492G>TCA337914752GNB1c.318C>A (p.Asn106Lys)
c.57C>A (p.Asn19Lys)
c.357C>A (p.Asn119Lys)
c.225C>A (p.Asn75Lys)
n.961C>A
1g.1804493T>ACA337914755GNB1c.317A>T (p.Asn106Ile)
c.56A>T (p.Asn19Ile)
c.356A>T (p.Asn119Ile)
c.224A>T (p.Asn75Ile)
n.960A>T
1g.1804493T>CCA337914756GNB1c.317A>G (p.Asn106Ser)
c.56A>G (p.Asn19Ser)
c.356A>G (p.Asn119Ser)
c.224A>G (p.Asn75Ser)
n.960A>G
1g.1804493T>GCA337914762GNB1c.317A>C (p.Asn106Thr)
c.56A>C (p.Asn19Thr)
c.356A>C (p.Asn119Thr)
c.224A>C (p.Asn75Thr)
n.960A>C
1g.1804494T>ACA337914772GNB1c.316A>T (p.Asn106Tyr)
c.55A>T (p.Asn19Tyr)
c.355A>T (p.Asn119Tyr)
c.223A>T (p.Asn75Tyr)
n.959A>T
1g.1804494T>CCA337914766GNB1c.316A>G (p.Asn106Asp)
c.55A>G (p.Asn19Asp)
c.355A>G (p.Asn119Asp)
c.223A>G (p.Asn75Asp)
n.959A>G
1g.1804494T>GCA337914769GNB1c.316A>C (p.Asn106His)
c.55A>C (p.Asn19His)
c.355A>C (p.Asn119His)
c.223A>C (p.Asn75His)
n.959A>C
1g.1804495A=CA1149323351GNB1c.315T= (p.Asp105=)
c.54T= (p.Asp18=)
c.354T= (p.Asp118=)
c.222T= (p.Asp74=)
n.958T=
1g.1804495A>CCA337914773GNB1c.315T>G (p.Asp105Glu)
c.54T>G (p.Asp18Glu)
c.354T>G (p.Asp118Glu)
c.222T>G (p.Asp74Glu)
n.958T>G
1g.1804495A>GCA415404147GNB1c.315T>C (p.Asp105=)
c.54T>C (p.Asp18=)
c.354T>C (p.Asp118=)
c.222T>C (p.Asp74=)
n.958T>C
 dbSNP
1g.1804495A>TCA337914774GNB1c.315T>A (p.Asp105Glu)
c.54T>A (p.Asp18Glu)
c.354T>A (p.Asp118Glu)
c.222T>A (p.Asp74Glu)
n.958T>A
1g.1804496T>ACA337914775GNB1c.314A>T (p.Asp105Val)
c.53A>T (p.Asp18Val)
c.353A>T (p.Asp118Val)
c.221A>T (p.Asp74Val)
n.957A>T
 gnomAD v4
1g.1804496T>CCA337914777GNB1c.314A>G (p.Asp105Gly)
c.53A>G (p.Asp18Gly)
c.353A>G (p.Asp118Gly)
c.221A>G (p.Asp74Gly)
n.957A>G
 ClinVar dbSNP gnomAD v4
1g.1804496T>GCA337914779GNB1c.314A>C (p.Asp105Ala)
c.53A>C (p.Asp18Ala)
c.353A>C (p.Asp118Ala)
c.221A>C (p.Asp74Ala)
n.957A>C
1g.1804496T=CA1149323352GNB1c.314A= (p.Asp105=)
c.53A= (p.Asp18=)
c.353A= (p.Asp118=)
c.221A= (p.Asp74=)
n.957A=
1g.1804497C>ACA337914782GNB1c.313G>T (p.Asp105Tyr)
c.52G>T (p.Asp18Tyr)
c.352G>T (p.Asp118Tyr)
c.220G>T (p.Asp74Tyr)
n.956G>T
 ClinVar dbSNP COSMIC
1g.1804497C=CA1149323353GNB1c.313G= (p.Asp105=)
c.52G= (p.Asp18=)
c.352G= (p.Asp118=)
c.220G= (p.Asp74=)
n.956G=
1g.1804497C>GCA337914785GNB1c.313G>C (p.Asp105His)
c.52G>C (p.Asp18His)
c.352G>C (p.Asp118His)
c.220G>C (p.Asp74His)
n.956G>C
1g.1804497C>TCA337914789GNB1c.313G>A (p.Asp105Asn)
c.52G>A (p.Asp18Asn)
c.352G>A (p.Asp118Asn)
c.220G>A (p.Asp74Asn)
n.956G>A
1g.1804498C>ACA415404148GNB1c.312G>T (p.Leu104=)
c.51G>T (p.Leu17=)
c.351G>T (p.Leu117=)
c.219G>T (p.Leu73=)
n.955G>T
1g.1804498C>GCA415404149GNB1c.312G>C (p.Leu104=)
c.51G>C (p.Leu17=)
c.351G>C (p.Leu117=)
c.219G>C (p.Leu73=)
n.955G>C
1g.1804498C>TCA415404150GNB1c.312G>A (p.Leu104=)
c.51G>A (p.Leu17=)
c.351G>A (p.Leu117=)
c.219G>A (p.Leu73=)
n.955G>A
1g.1804499A>CCA337914792GNB1c.311T>G (p.Leu104Arg)
c.50T>G (p.Leu17Arg)
c.350T>G (p.Leu117Arg)
c.218T>G (p.Leu73Arg)
n.954T>G
1g.1804499A>GCA337914795GNB1c.311T>C (p.Leu104Pro)
c.50T>C (p.Leu17Pro)
c.350T>C (p.Leu117Pro)
c.218T>C (p.Leu73Pro)
n.954T>C
1g.1804499A>TCA337914798GNB1c.311T>A (p.Leu104Gln)
c.50T>A (p.Leu17Gln)
c.350T>A (p.Leu117Gln)
c.218T>A (p.Leu73Gln)
n.954T>A
1g.1804500G>ACA415404151GNB1c.310C>T (p.Leu104=)
c.49C>T (p.Leu17=)
c.349C>T (p.Leu117=)
c.217C>T (p.Leu73=)
n.953C>T
1g.1804500G>CCA337914804GNB1c.310C>G (p.Leu104Val)
c.49C>G (p.Leu17Val)
c.349C>G (p.Leu117Val)
c.217C>G (p.Leu73Val)
n.953C>G
1g.1804500G>TCA337914802GNB1c.310C>A (p.Leu104Met)
c.49C>A (p.Leu17Met)
c.349C>A (p.Leu117Met)
c.217C>A (p.Leu73Met)
n.953C>A
1g.1804501G>ACA415404152GNB1c.309C>T (p.Gly103=)
c.48C>T (p.Gly16=)
c.348C>T (p.Gly116=)
c.216C>T (p.Gly72=)
n.952C>T
1g.1804501G>CCA415404153GNB1c.309C>G (p.Gly103=)
c.48C>G (p.Gly16=)
c.348C>G (p.Gly116=)
c.216C>G (p.Gly72=)
n.952C>G
1g.1804501G>TCA415404154GNB1c.309C>A (p.Gly103=)
c.48C>A (p.Gly16=)
c.348C>A (p.Gly116=)
c.216C>A (p.Gly72=)
n.952C>A
1g.1804502C>ACA337914809GNB1c.308G>T (p.Gly103Val)
c.47G>T (p.Gly16Val)
c.347G>T (p.Gly116Val)
c.215G>T (p.Gly72Val)
n.951G>T
 ClinVar dbSNP
1g.1804502C=CA1149323354GNB1c.308G= (p.Gly103=)
c.47G= (p.Gly16=)
c.347G= (p.Gly116=)
c.215G= (p.Gly72=)
n.951G=
1g.1804502C>GCA337914826GNB1c.308G>C (p.Gly103Ala)
c.47G>C (p.Gly16Ala)
c.347G>C (p.Gly116Ala)
c.215G>C (p.Gly72Ala)
n.951G>C
1g.1804502C>TCA337914812GNB1c.308G>A (p.Gly103Asp)
c.47G>A (p.Gly16Asp)
c.347G>A (p.Gly116Asp)
c.215G>A (p.Gly72Asp)
n.951G>A
 ClinVar dbSNP gnomAD v4
1g.1804503C>ACA337914833GNB1c.307G>T (p.Gly103Cys)
c.46G>T (p.Gly16Cys)
c.346G>T (p.Gly116Cys)
c.214G>T (p.Gly72Cys)
n.950G>T
1g.1804503C=CA1149323355GNB1c.307G= (p.Gly103=)
c.46G= (p.Gly16=)
c.346G= (p.Gly116=)
c.214G= (p.Gly72=)
n.950G=
1g.1804503C>GCA337914848GNB1c.307G>C (p.Gly103Arg)
c.46G>C (p.Gly16Arg)
c.346G>C (p.Gly116Arg)
c.214G>C (p.Gly72Arg)
n.950G>C
1g.1804503C>TCA337914852GNB1c.307G>A (p.Gly103Ser)
c.46G>A (p.Gly16Ser)
c.346G>A (p.Gly116Ser)
c.214G>A (p.Gly72Ser)
n.950G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
1g.1804504A>CCA415404155GNB1c.306T>G (p.Gly102=)
c.45T>G (p.Gly15=)
c.345T>G (p.Gly115=)
c.213T>G (p.Gly71=)
n.949T>G
1g.1804504A>GCA415404156GNB1c.306T>C (p.Gly102=)
c.45T>C (p.Gly15=)
c.345T>C (p.Gly115=)
c.213T>C (p.Gly71=)
n.949T>C
1g.1804504A>TCA415404157GNB1c.306T>A (p.Gly102=)
c.45T>A (p.Gly15=)
c.345T>A (p.Gly115=)
c.213T>A (p.Gly71=)
n.949T>A
1g.1804505C>ACA337914857GNB1c.305G>T (p.Gly102Val)
c.44G>T (p.Gly15Val)
c.344G>T (p.Gly115Val)
c.212G>T (p.Gly71Val)
n.948G>T
1g.1804505C>GCA337914862GNB1c.305G>C (p.Gly102Ala)
c.44G>C (p.Gly15Ala)
c.344G>C (p.Gly115Ala)
c.212G>C (p.Gly71Ala)
n.948G>C
1g.1804505C>TCA337914864GNB1c.305G>A (p.Gly102Asp)
c.44G>A (p.Gly15Asp)
c.344G>A (p.Gly115Asp)
c.212G>A (p.Gly71Asp)
n.948G>A
1g.1804506C>ACA337914870GNB1c.304G>T (p.Gly102Cys)
c.43G>T (p.Gly15Cys)
c.343G>T (p.Gly115Cys)
c.211G>T (p.Gly71Cys)
n.947G>T
 COSMIC
1g.1804506C=CA1149323356GNB1c.304G= (p.Gly102=)
c.43G= (p.Gly15=)
c.343G= (p.Gly115=)
c.211G= (p.Gly71=)
n.947G=
1g.1804506C>GCA337914872GNB1c.304G>C (p.Gly102Arg)
c.43G>C (p.Gly15Arg)
c.343G>C (p.Gly115Arg)
c.211G>C (p.Gly71Arg)
n.947G>C
1g.1804506C>TCA337914875GNB1c.304G>A (p.Gly102Ser)
c.43G>A (p.Gly15Ser)
c.343G>A (p.Gly115Ser)
c.211G>A (p.Gly71Ser)
n.947G>A
 ClinVar dbSNP
1g.1804507G>ACA532046GNB1c.303C>T (p.Cys101=)
c.42C>T (p.Cys14=)
c.342C>T (p.Cys114=)
c.210C>T (p.Cys70=)
n.946C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.1804507G>CCA337914882GNB1c.303C>G (p.Cys101Trp)
c.42C>G (p.Cys14Trp)
c.342C>G (p.Cys114Trp)
c.210C>G (p.Cys70Trp)
n.946C>G
1g.1804507G=CA1146431179GNB1c.303C= (p.Cys101=)
c.42C= (p.Cys14=)
c.342C= (p.Cys114=)
c.210C= (p.Cys70=)
n.946C=
1g.1804507G>TCA337914884GNB1c.303C>A (p.Cys101Ter)
c.42C>A (p.Cys14Ter)
c.342C>A (p.Cys114Ter)
c.210C>A (p.Cys70Ter)
n.946C>A
1g.1804508C>ACA337914886GNB1c.302G>T (p.Cys101Phe)
c.41G>T (p.Cys14Phe)
c.341G>T (p.Cys114Phe)
c.209G>T (p.Cys70Phe)
n.945G>T
1g.1804508C=CA1149323357GNB1c.302G= (p.Cys101=)
c.41G= (p.Cys14=)
c.341G= (p.Cys114=)
c.209G= (p.Cys70=)
n.945G=
1g.1804508C>GCA337914888GNB1c.302G>C (p.Cys101Ser)
c.41G>C (p.Cys14Ser)
c.341G>C (p.Cys114Ser)
c.209G>C (p.Cys70Ser)
n.945G>C
 dbSNP gnomAD v3 gnomAD v4
1g.1804508C>TCA337914887GNB1c.302G>A (p.Cys101Tyr)
c.41G>A (p.Cys14Tyr)
c.341G>A (p.Cys114Tyr)
c.209G>A (p.Cys70Tyr)
n.945G>A
 ClinVar dbSNP gnomAD v4
1g.1804509A>CCA337914889GNB1c.301T>G (p.Cys101Gly)
c.40T>G (p.Cys14Gly)
c.340T>G (p.Cys114Gly)
c.208T>G (p.Cys70Gly)
n.944T>G
1g.1804509A>GCA337914893GNB1c.301T>C (p.Cys101Arg)
c.40T>C (p.Cys14Arg)
c.340T>C (p.Cys114Arg)
c.208T>C (p.Cys70Arg)
n.944T>C
1g.1804509A>TCA337914894GNB1c.301T>A (p.Cys101Ser)
c.40T>A (p.Cys14Ser)
c.340T>A (p.Cys114Ser)
c.208T>A (p.Cys70Ser)
n.944T>A
1g.1804510G>ACA532047GNB1c.300C>T (p.Ala100=)
c.39C>T (p.Ala13=)
c.339C>T (p.Ala113=)
c.207C>T (p.Ala69=)
n.943C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.1804510G>CCA415404158GNB1c.300C>G (p.Ala100=)
c.39C>G (p.Ala13=)
c.339C>G (p.Ala113=)
c.207C>G (p.Ala69=)
n.943C>G
1g.1804510G=CA1149323358GNB1c.300C= (p.Ala100=)
c.39C= (p.Ala13=)
c.339C= (p.Ala113=)
c.207C= (p.Ala69=)
n.943C=
1g.1804510G>TCA415404159GNB1c.300C>A (p.Ala100=)
c.39C>A (p.Ala13=)
c.339C>A (p.Ala113=)
c.207C>A (p.Ala69=)
n.943C>A
 dbSNP
1g.1804511G>ACA337914895GNB1c.299C>T (p.Ala100Val)
c.38C>T (p.Ala13Val)
c.338C>T (p.Ala113Val)
c.206C>T (p.Ala69Val)
n.942C>T
1g.1804511G>CCA337914906GNB1c.299C>G (p.Ala100Gly)
c.38C>G (p.Ala13Gly)
c.338C>G (p.Ala113Gly)
c.206C>G (p.Ala69Gly)
n.942C>G
1g.1804511G>TCA337914910GNB1c.299C>A (p.Ala100Asp)
c.38C>A (p.Ala13Asp)
c.338C>A (p.Ala113Asp)
c.206C>A (p.Ala69Asp)
n.942C>A
1g.1804512C>ACA337914918GNB1c.298G>T (p.Ala100Ser)
c.37G>T (p.Ala13Ser)
c.337G>T (p.Ala113Ser)
c.205G>T (p.Ala69Ser)
n.941G>T
1g.1804512C>GCA337914922GNB1c.298G>C (p.Ala100Pro)
c.37G>C (p.Ala13Pro)
c.337G>C (p.Ala113Pro)
c.205G>C (p.Ala69Pro)
n.941G>C
1g.1804512C>TCA337914925GNB1c.298G>A (p.Ala100Thr)
c.37G>A (p.Ala13Thr)
c.337G>A (p.Ala113Thr)
c.205G>A (p.Ala69Thr)
n.941G>A
1g.1804513C>ACA415404160GNB1c.297G>T (p.Val99=)
c.36G>T (p.Val12=)
c.336G>T (p.Val112=)
c.204G>T (p.Val68=)
n.940G>T
 gnomAD v4
1g.1804513C>GCA415404161GNB1c.297G>C (p.Val99=)
c.36G>C (p.Val12=)
c.336G>C (p.Val112=)
c.204G>C (p.Val68=)
n.940G>C
1g.1804513C>TCA415404162GNB1c.297G>A (p.Val99=)
c.36G>A (p.Val12=)
c.336G>A (p.Val112=)
c.204G>A (p.Val68=)
n.940G>A
 ClinVar gnomAD v4
1g.1804514A>CCA337914931GNB1c.296T>G (p.Val99Gly)
c.35T>G (p.Val12Gly)
c.335T>G (p.Val112Gly)
c.203T>G (p.Val68Gly)
n.939T>G
1g.1804514A>GCA337914934GNB1c.296T>C (p.Val99Ala)
c.35T>C (p.Val12Ala)
c.335T>C (p.Val112Ala)
c.203T>C (p.Val68Ala)
n.939T>C
1g.1804514A>TCA337914929GNB1c.296T>A (p.Val99Glu)
c.35T>A (p.Val12Glu)
c.335T>A (p.Val112Glu)
c.203T>A (p.Val68Glu)
n.939T>A
1g.1804515C>ACA337914940GNB1c.295G>T (p.Val99Leu)
c.34G>T (p.Val12Leu)
c.334G>T (p.Val112Leu)
c.202G>T (p.Val68Leu)
n.938G>T
1g.1804515C>GCA337914946GNB1c.295G>C (p.Val99Leu)
c.34G>C (p.Val12Leu)
c.334G>C (p.Val112Leu)
c.202G>C (p.Val68Leu)
n.938G>C
1g.1804515C>TCA337914950GNB1c.295G>A (p.Val99Met)
c.34G>A (p.Val12Met)
c.334G>A (p.Val112Met)
c.202G>A (p.Val68Met)
n.938G>A
1g.1804516A=CA1149114479GNB1c.294T= (p.Tyr98=)
c.33T= (p.Tyr11=)
c.333T= (p.Tyr111=)
c.201T= (p.Tyr67=)
n.937T=
1g.1804516A>CCA337914952GNB1c.294T>G (p.Tyr98Ter)
c.33T>G (p.Tyr11Ter)
c.333T>G (p.Tyr111Ter)
c.201T>G (p.Tyr67Ter)
n.937T>G
1g.1804516A>GCA532048GNB1c.294T>C (p.Tyr98=)
c.33T>C (p.Tyr11=)
c.333T>C (p.Tyr111=)
c.201T>C (p.Tyr67=)
n.937T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1804516A>TCA337914957GNB1c.294T>A (p.Tyr98Ter)
c.33T>A (p.Tyr11Ter)
c.333T>A (p.Tyr111Ter)
c.201T>A (p.Tyr67Ter)
n.937T>A
1g.1804517T>ACA337914963GNB1c.293A>T (p.Tyr98Phe)
c.32A>T (p.Tyr11Phe)
c.332A>T (p.Tyr111Phe)
c.200A>T (p.Tyr67Phe)
n.936A>T
1g.1804517T>CCA337914958GNB1c.293A>G (p.Tyr98Cys)
c.32A>G (p.Tyr11Cys)
c.332A>G (p.Tyr111Cys)
c.200A>G (p.Tyr67Cys)
n.936A>G
 dbSNP gnomAD v4
1g.1804517T>GCA337914959GNB1c.293A>C (p.Tyr98Ser)
c.32A>C (p.Tyr11Ser)
c.332A>C (p.Tyr111Ser)
c.200A>C (p.Tyr67Ser)
n.936A>C
1g.1804517T=CA1149323359GNB1c.293A= (p.Tyr98=)
c.32A= (p.Tyr11=)
c.332A= (p.Tyr111=)
c.200A= (p.Tyr67=)
n.936A=
1g.1804518A>CCA337914970GNB1c.292T>G (p.Tyr98Asp)
c.31T>G (p.Tyr11Asp)
c.331T>G (p.Tyr111Asp)
c.199T>G (p.Tyr67Asp)
n.935T>G
1g.1804518A>GCA337914974GNB1c.292T>C (p.Tyr98His)
c.31T>C (p.Tyr11His)
c.331T>C (p.Tyr111His)
c.199T>C (p.Tyr67His)
n.935T>C
1g.1804518A>TCA337914975GNB1c.292T>A (p.Tyr98Asn)
c.31T>A (p.Tyr11Asn)
c.331T>A (p.Tyr111Asn)
c.199T>A (p.Tyr67Asn)
n.935T>A
1g.1804519G>ACA415404163GNB1c.291C>T (p.Asn97=)
c.30C>T (p.Asn10=)
c.330C>T (p.Asn110=)
c.198C>T (p.Asn66=)
n.934C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.1804519G>CCA337914976GNB1c.291C>G (p.Asn97Lys)
c.30C>G (p.Asn10Lys)
c.330C>G (p.Asn110Lys)
c.198C>G (p.Asn66Lys)
n.934C>G
1g.1804519G=CA1149323360GNB1c.291C= (p.Asn97=)
c.30C= (p.Asn10=)
c.330C= (p.Asn110=)
c.198C= (p.Asn66=)
n.934C=
1g.1804519G>TCA337914977GNB1c.291C>A (p.Asn97Lys)
c.30C>A (p.Asn10Lys)
c.330C>A (p.Asn110Lys)
c.198C>A (p.Asn66Lys)
n.934C>A
1g.1804520T>ACA337914979GNB1c.290A>T (p.Asn97Ile)
c.29A>T (p.Asn10Ile)
c.329A>T (p.Asn110Ile)
c.197A>T (p.Asn66Ile)
n.933A>T
1g.1804520T>CCA337915005GNB1c.290A>G (p.Asn97Ser)
c.29A>G (p.Asn10Ser)
c.329A>G (p.Asn110Ser)
c.197A>G (p.Asn66Ser)
n.933A>G
 gnomAD v4
1g.1804520T>GCA337914985GNB1c.290A>C (p.Asn97Thr)
c.29A>C (p.Asn10Thr)
c.329A>C (p.Asn110Thr)
c.197A>C (p.Asn66Thr)
n.933A>C
1g.1804521T>ACA337915014GNB1c.289A>T (p.Asn97Tyr)
c.28A>T (p.Asn10Tyr)
c.328A>T (p.Asn110Tyr)
c.196A>T (p.Asn66Tyr)
n.932A>T
1g.1804521T>CCA337915017GNB1c.289A>G (p.Asn97Asp)
c.28A>G (p.Asn10Asp)
c.328A>G (p.Asn110Asp)
c.196A>G (p.Asn66Asp)
n.932A>G
1g.1804521T>GCA337915023GNB1c.289A>C (p.Asn97His)
c.28A>C (p.Asn10His)
c.328A>C (p.Asn110His)
c.196A>C (p.Asn66His)
n.932A>C
1g.1804522C>ACA415404166GNB1c.288G>T (p.Gly96=)
c.27G>T (p.Gly9=)
c.327G>T (p.Gly109=)
c.195G>T (p.Gly65=)
n.931G>T
1g.1804522C>GCA415404165GNB1c.288G>C (p.Gly96=)
c.27G>C (p.Gly9=)
c.327G>C (p.Gly109=)
c.195G>C (p.Gly65=)
n.931G>C
1g.1804522C>TCA415404164GNB1c.288G>A (p.Gly96=)
c.27G>A (p.Gly9=)
c.327G>A (p.Gly109=)
c.195G>A (p.Gly65=)
n.931G>A
1g.1804527_1804555delCA2697552042GNB1c.260_288del (p.Val87GlufsTer10)
c.-2_27del
c.299_327del (p.Val100GlufsTer10)
c.167_195del (p.Val56GlufsTer10)
n.903_931del
 ClinVar
1g.1804523C>ACA337915043GNB1c.287G>T (p.Gly96Val)
c.26G>T (p.Gly9Val)
c.326G>T (p.Gly109Val)
c.194G>T (p.Gly65Val)
n.930G>T
1g.1804523C>GCA337915047GNB1c.287G>C (p.Gly96Ala)
c.26G>C (p.Gly9Ala)
c.326G>C (p.Gly109Ala)
c.194G>C (p.Gly65Ala)
n.930G>C
1g.1804523C>TCA337915053GNB1c.287G>A (p.Gly96Glu)
c.26G>A (p.Gly9Glu)
c.326G>A (p.Gly109Glu)
c.194G>A (p.Gly65Glu)
n.930G>A
 ClinVar
1g.1804524C>ACA337915064GNB1c.286G>T (p.Gly96Trp)
c.25G>T (p.Gly9Trp)
c.325G>T (p.Gly109Trp)
c.193G>T (p.Gly65Trp)
n.929G>T
1g.1804524C>GCA337915074GNB1c.286G>C (p.Gly96Arg)
c.25G>C (p.Gly9Arg)
c.325G>C (p.Gly109Arg)
c.193G>C (p.Gly65Arg)
n.929G>C
1g.1804524C>TCA337915076GNB1c.286G>A (p.Gly96Arg)
c.25G>A (p.Gly9Arg)
c.325G>A (p.Gly109Arg)
c.193G>A (p.Gly65Arg)
n.929G>A
1g.1804525A>CCA415404167GNB1c.285T>G (p.Ser95=)
c.24T>G (p.Ser8=)
c.324T>G (p.Ser108=)
c.192T>G (p.Ser64=)
n.928T>G
1g.1804525A>GCA415404168GNB1c.285T>C (p.Ser95=)
c.24T>C (p.Ser8=)
c.324T>C (p.Ser108=)
c.192T>C (p.Ser64=)
n.928T>C
1g.1804525A>TCA415404169GNB1c.285T>A (p.Ser95=)
c.24T>A (p.Ser8=)
c.324T>A (p.Ser108=)
c.192T>A (p.Ser64=)
n.928T>A
 gnomAD v4
1g.1804526G>ACA337915084GNB1c.284C>T (p.Ser95Phe)
c.23C>T (p.Ser8Phe)
c.323C>T (p.Ser108Phe)
c.191C>T (p.Ser64Phe)
c.323C>T
n.927C>T
 dbSNP COSMIC
1g.1804526G>CCA337915089GNB1c.284C>G (p.Ser95Cys)
c.23C>G (p.Ser8Cys)
c.323C>G (p.Ser108Cys)
c.191C>G (p.Ser64Cys)
c.323C>G
n.927C>G
 gnomAD v4
1g.1804526G=CA1149323361GNB1c.284C= (p.Ser95=)
c.23C= (p.Ser8=)
c.323C= (p.Ser108=)
c.191C= (p.Ser64=)
c.323C=
n.927C=
1g.1804526G>TCA337915094GNB1c.284C>A (p.Ser95Tyr)
c.23C>A (p.Ser8Tyr)
c.323C>A (p.Ser108Tyr)
c.191C>A (p.Ser64Tyr)
c.323C>A
n.927C>A
1g.1804527A>CCA337915096GNB1c.283T>G (p.Ser95Ala)
c.22T>G (p.Ser8Ala)
c.322T>G (p.Ser108Ala)
c.190T>G (p.Ser64Ala)
c.322T>G
n.926T>G
1g.1804527A>GCA337915099GNB1c.283T>C (p.Ser95Pro)
c.22T>C (p.Ser8Pro)
c.322T>C (p.Ser108Pro)
c.190T>C (p.Ser64Pro)
c.322T>C
n.926T>C
1g.1804527A>TCA337915095GNB1c.283T>A (p.Ser95Thr)
c.22T>A (p.Ser8Thr)
c.322T>A (p.Ser108Thr)
c.190T>A (p.Ser64Thr)
c.322T>A
n.926T>A
1g.1804528A>CCA415404170GNB1c.282T>G (p.Pro94=)
c.21T>G (p.Pro7=)
c.321T>G (p.Pro107=)
c.189T>G (p.Pro63=)
n.925T>G
1g.1804528A>GCA415404171GNB1c.282T>C (p.Pro94=)
c.21T>C (p.Pro7=)
c.321T>C (p.Pro107=)
c.189T>C (p.Pro63=)
n.925T>C
1g.1804528A>TCA415404172GNB1c.282T>A (p.Pro94=)
c.21T>A (p.Pro7=)
c.321T>A (p.Pro107=)
c.189T>A (p.Pro63=)
n.925T>A
1g.1804529G>ACA337915105GNB1c.281C>T (p.Pro94Leu)
c.20C>T (p.Pro7Leu)
c.320C>T (p.Pro107Leu)
c.188C>T (p.Pro63Leu)
n.924C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.1804529G>CCA337915103GNB1c.281C>G (p.Pro94Arg)
c.20C>G (p.Pro7Arg)
c.320C>G (p.Pro107Arg)
c.188C>G (p.Pro63Arg)
n.924C>G
1g.1804529G=CA1149323362GNB1c.281C= (p.Pro94=)
c.20C= (p.Pro7=)
c.320C= (p.Pro107=)
c.188C= (p.Pro63=)
n.924C=
1g.1804529G>TCA337915110GNB1c.281C>A (p.Pro94His)
c.20C>A (p.Pro7His)
c.320C>A (p.Pro107His)
c.188C>A (p.Pro63His)
n.924C>A
1g.1804530G>ACA337915114GNB1c.280C>T (p.Pro94Ser)
c.19C>T (p.Pro7Ser)
c.319C>T (p.Pro107Ser)
c.187C>T (p.Pro63Ser)
n.923C>T
 gnomAD v4
1g.1804530G>CCA337915132GNB1c.280C>G (p.Pro94Ala)
c.19C>G (p.Pro7Ala)
c.319C>G (p.Pro107Ala)
c.187C>G (p.Pro63Ala)
n.923C>G
1g.1804530G>TCA337915134GNB1c.280C>A (p.Pro94Thr)
c.19C>A (p.Pro7Thr)
c.319C>A (p.Pro107Thr)
c.187C>A (p.Pro63Thr)
n.923C>A
1g.1804531G>ACA415404174GNB1c.279C>T (p.Ala93=)
c.18C>T (p.Ala6=)
c.318C>T (p.Ala106=)
c.186C>T (p.Ala62=)
n.922C>T
 dbSNP
1g.1804531G>CCA415404175GNB1c.279C>G (p.Ala93=)
c.18C>G (p.Ala6=)
c.318C>G (p.Ala106=)
c.186C>G (p.Ala62=)
n.922C>G
 ClinVar dbSNP
1g.1804531G=CA1149323363GNB1c.279C= (p.Ala93=)
c.18C= (p.Ala6=)
c.318C= (p.Ala106=)
c.186C= (p.Ala62=)
n.922C=
1g.1804531G>TCA532049GNB1c.279C>A (p.Ala93=)
c.18C>A (p.Ala6=)
c.318C>A (p.Ala106=)
c.186C>A (p.Ala62=)
n.922C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.1804532G>ACA337915149GNB1c.278C>T (p.Ala93Val)
c.17C>T (p.Ala6Val)
c.317C>T (p.Ala106Val)
c.185C>T (p.Ala62Val)
n.921C>T
1g.1804532G>CCA337915151GNB1c.278C>G (p.Ala93Gly)
c.17C>G (p.Ala6Gly)
c.317C>G (p.Ala106Gly)
c.185C>G (p.Ala62Gly)
n.921C>G
1g.1804532G>TCA337915154GNB1c.278C>A (p.Ala93Asp)
c.17C>A (p.Ala6Asp)
c.317C>A (p.Ala106Asp)
c.185C>A (p.Ala62Asp)
n.921C>A
1g.1804533C>ACA337915157GNB1c.277G>T (p.Ala93Ser)
c.16G>T (p.Ala6Ser)
c.316G>T (p.Ala106Ser)
c.184G>T (p.Ala62Ser)
n.920G>T
 dbSNP gnomAD v3 gnomAD v4
1g.1804533C=CA1149323364GNB1c.277G= (p.Ala93=)
c.16G= (p.Ala6=)
c.316G= (p.Ala106=)
c.184G= (p.Ala62=)
n.920G=
1g.1804533C>GCA337915163GNB1c.277G>C (p.Ala93Pro)
c.16G>C (p.Ala6Pro)
c.316G>C (p.Ala106Pro)
c.184G>C (p.Ala62Pro)
n.920G>C
1g.1804533C>TCA337915166GNB1c.277G>A (p.Ala93Thr)
c.16G>A (p.Ala6Thr)
c.316G>A (p.Ala106Thr)
c.184G>A (p.Ala62Thr)
n.920G>A
1g.1804534A=CA1149323365GNB1c.276T= (p.Tyr92=)
c.15T= (p.Tyr5=)
c.315T= (p.Tyr105=)
c.183T= (p.Tyr61=)
n.919T=
1g.1804534A>CCA337915170GNB1c.276T>G (p.Tyr92Ter)
c.15T>G (p.Tyr5Ter)
c.315T>G (p.Tyr105Ter)
c.183T>G (p.Tyr61Ter)
n.919T>G
1g.1804534A>GCA415404176GNB1c.276T>C (p.Tyr92=)
c.15T>C (p.Tyr5=)
c.315T>C (p.Tyr105=)
c.183T>C (p.Tyr61=)
n.919T>C
 dbSNP gnomAD v4
1g.1804534A>TCA337915179GNB1c.276T>A (p.Tyr92Ter)
c.15T>A (p.Tyr5Ter)
c.315T>A (p.Tyr105Ter)
c.183T>A (p.Tyr61Ter)
n.919T>A
1g.1804535T>ACA337915186GNB1c.275A>T (p.Tyr92Phe)
c.14A>T (p.Tyr5Phe)
c.314A>T (p.Tyr105Phe)
c.182A>T (p.Tyr61Phe)
n.918A>T
1g.1804535T>CCA337915184GNB1c.275A>G (p.Tyr92Cys)
c.14A>G (p.Tyr5Cys)
c.314A>G (p.Tyr105Cys)
c.182A>G (p.Tyr61Cys)
n.918A>G
1g.1804535T>GCA337915185GNB1c.275A>C (p.Tyr92Ser)
c.14A>C (p.Tyr5Ser)
c.314A>C (p.Tyr105Ser)
c.182A>C (p.Tyr61Ser)
n.918A>C
1g.1804536A>CCA337915187GNB1c.274T>G (p.Tyr92Asp)
c.13T>G (p.Tyr5Asp)
c.313T>G (p.Tyr105Asp)
c.181T>G (p.Tyr61Asp)
n.917T>G
1g.1804536A>GCA337915188GNB1c.274T>C (p.Tyr92His)
c.13T>C (p.Tyr5His)
c.313T>C (p.Tyr105His)
c.181T>C (p.Tyr61His)
n.917T>C
1g.1804536A>TCA337915190GNB1c.274T>A (p.Tyr92Asn)
c.13T>A (p.Tyr5Asn)
c.313T>A (p.Tyr105Asn)
c.181T>A (p.Tyr61Asn)
n.917T>A
1g.1804537T>ACA415404177GNB1c.273A>T (p.Ala91=)
c.12A>T (p.Ala4=)
c.312A>T (p.Ala104=)
c.180A>T (p.Ala60=)
n.916A>T
1g.1804537T>CCA16827557GNB1c.273A>G (p.Ala91=)
c.12A>G (p.Ala4=)
c.312A>G (p.Ala104=)
c.180A>G (p.Ala60=)
n.916A>G
 dbSNP gnomAD v4
1g.1804537T>GCA415404178GNB1c.273A>C (p.Ala91=)
c.12A>C (p.Ala4=)
c.312A>C (p.Ala104=)
c.180A>C (p.Ala60=)
n.916A>C
1g.1804537T=CA1149323366GNB1c.273A= (p.Ala91=)
c.12A= (p.Ala4=)
c.312A= (p.Ala104=)
c.180A= (p.Ala60=)
n.916A=
1g.1804538G>ACA337915195GNB1c.272C>T (p.Ala91Val)
c.11C>T (p.Ala4Val)
c.311C>T (p.Ala104Val)
c.179C>T (p.Ala60Val)
n.915C>T
1g.1804538G>CCA337915199GNB1c.272C>G (p.Ala91Gly)
c.11C>G (p.Ala4Gly)
c.311C>G (p.Ala104Gly)
c.179C>G (p.Ala60Gly)
n.915C>G
1g.1804538G>TCA337915203GNB1c.272C>A (p.Ala91Glu)
c.11C>A (p.Ala4Glu)
c.311C>A (p.Ala104Glu)
c.179C>A (p.Ala60Glu)
n.915C>A
1g.1804539C>ACA337915206GNB1c.271G>T (p.Ala91Ser)
c.10G>T (p.Ala4Ser)
c.310G>T (p.Ala104Ser)
c.178G>T (p.Ala60Ser)
n.914G>T
1g.1804539C>GCA337915207GNB1c.271G>C (p.Ala91Pro)
c.10G>C (p.Ala4Pro)
c.310G>C (p.Ala104Pro)
c.178G>C (p.Ala60Pro)
n.914G>C
1g.1804539C>TCA337915208GNB1c.271G>A (p.Ala91Thr)
c.10G>A (p.Ala4Thr)
c.310G>A (p.Ala104Thr)
c.178G>A (p.Ala60Thr)
n.914G>A
1g.1804540A=CA1149323367GNB1c.270T= (p.Cys90=)
c.9T= (p.Cys3=)
c.309T= (p.Cys103=)
c.177T= (p.Cys59=)
n.913T=
1g.1804540A>CCA337915209GNB1c.270T>G (p.Cys90Trp)
c.9T>G (p.Cys3Trp)
c.309T>G (p.Cys103Trp)
c.177T>G (p.Cys59Trp)
n.913T>G
1g.1804540A>GCA415404179GNB1c.270T>C (p.Cys90=)
c.9T>C (p.Cys3=)
c.309T>C (p.Cys103=)
c.177T>C (p.Cys59=)
n.913T>C
 dbSNP gnomAD v4
1g.1804540A>TCA337915211GNB1c.270T>A (p.Cys90Ter)
c.9T>A (p.Cys3Ter)
c.309T>A (p.Cys103Ter)
c.177T>A (p.Cys59Ter)
n.913T>A
1g.1804541C>ACA337915226GNB1c.269G>T (p.Cys90Phe)
c.8G>T (p.Cys3Phe)
c.308G>T (p.Cys103Phe)
c.176G>T (p.Cys59Phe)
n.912G>T
1g.1804541C>GCA337915216GNB1c.269G>C (p.Cys90Ser)
c.8G>C (p.Cys3Ser)
c.308G>C (p.Cys103Ser)
c.176G>C (p.Cys59Ser)
n.912G>C
1g.1804541C>TCA337915214GNB1c.269G>A (p.Cys90Tyr)
c.8G>A (p.Cys3Tyr)
c.308G>A (p.Cys103Tyr)
c.176G>A (p.Cys59Tyr)
n.912G>A
1g.1804542A>CCA337915230GNB1c.268T>G (p.Cys90Gly)
c.7T>G (p.Cys3Gly)
c.307T>G (p.Cys103Gly)
c.175T>G (p.Cys59Gly)
n.911T>G
1g.1804542A>GCA337915232GNB1c.268T>C (p.Cys90Arg)
c.7T>C (p.Cys3Arg)
c.307T>C (p.Cys103Arg)
c.175T>C (p.Cys59Arg)
n.911T>C
1g.1804542A>TCA337915233GNB1c.268T>A (p.Cys90Ser)
c.7T>A (p.Cys3Ser)
c.307T>A (p.Cys103Ser)
c.175T>A (p.Cys59Ser)
n.911T>A
1g.1804543G>ACA415404181GNB1c.267C>T (p.Thr89=)
c.6C>T (p.Thr2=)
c.306C>T (p.Thr102=)
c.174C>T (p.Thr58=)
n.910C>T
1g.1804543G>CCA415404182GNB1c.267C>G (p.Thr89=)
c.6C>G (p.Thr2=)
c.306C>G (p.Thr102=)
c.174C>G (p.Thr58=)
n.910C>G
 gnomAD v4
1g.1804543G>TCA415404183GNB1c.267C>A (p.Thr89=)
c.6C>A (p.Thr2=)
c.306C>A (p.Thr102=)
c.174C>A (p.Thr58=)
n.910C>A
1g.1804544G>ACA337915237GNB1c.266C>T (p.Thr89Ile)
c.5C>T (p.Thr2Ile)
c.305C>T (p.Thr102Ile)
c.173C>T (p.Thr58Ile)
n.909C>T
1g.1804544G>CCA337915240GNB1c.266C>G (p.Thr89Ser)
c.5C>G (p.Thr2Ser)
c.305C>G (p.Thr102Ser)
c.173C>G (p.Thr58Ser)
n.909C>G
 gnomAD v4
1g.1804544G>TCA337915242GNB1c.266C>A (p.Thr89Asn)
c.5C>A (p.Thr2Asn)
c.305C>A (p.Thr102Asn)
c.173C>A (p.Thr58Asn)
n.909C>A
1g.1804545T>ACA337915246GNB1c.265A>T (p.Thr89Ser)
c.4A>T (p.Thr2Ser)
c.304A>T (p.Thr102Ser)
c.172A>T (p.Thr58Ser)
n.908A>T
1g.1804545T>CCA337915248GNB1c.265A>G (p.Thr89Ala)
c.4A>G (p.Thr2Ala)
c.304A>G (p.Thr102Ala)
c.172A>G (p.Thr58Ala)
n.908A>G
 dbSNP gnomAD v2 gnomAD v4
1g.1804545T>GCA337915252GNB1c.265A>C (p.Thr89Pro)
c.4A>C (p.Thr2Pro)
c.304A>C (p.Thr102Pro)
c.172A>C (p.Thr58Pro)
n.908A>C
1g.1804545T=CA1149323368GNB1c.265A= (p.Thr89=)
c.4A= (p.Thr2=)
c.304A= (p.Thr102=)
c.172A= (p.Thr58=)
n.908A=
1g.1804546C>ACA337915254GNB1c.264G>T (p.Met88Ile)
c.3G>T (p.Met1Ile)
c.303G>T (p.Met101Ile)
c.171G>T (p.Met57Ile)
n.907G>T
1g.1804546C>GCA337915257GNB1c.264G>C (p.Met88Ile)
c.3G>C (p.Met1Ile)
c.303G>C (p.Met101Ile)
c.171G>C (p.Met57Ile)
n.907G>C
1g.1804546C>TCA337915263GNB1c.264G>A (p.Met88Ile)
c.3G>A (p.Met1Ile)
c.303G>A (p.Met101Ile)
c.171G>A (p.Met57Ile)
n.907G>A
 ClinVar
1g.1804547A>CCA337915275GNB1c.263T>G (p.Met88Arg)
c.2T>G (p.Met1Arg)
c.302T>G (p.Met101Arg)
c.170T>G (p.Met57Arg)
n.906T>G
1g.1804547A>GCA337915271GNB1c.263T>C (p.Met88Thr)
c.2T>C (p.Met1Thr)
c.302T>C (p.Met101Thr)
c.170T>C (p.Met57Thr)
n.906T>C
1g.1804547A>TCA337915266GNB1c.263T>A (p.Met88Lys)
c.2T>A (p.Met1Lys)
c.302T>A (p.Met101Lys)
c.170T>A (p.Met57Lys)
n.906T>A
1g.1804548T>ACA337915278GNB1c.262A>T (p.Met88Leu)
c.1A>T (p.Met1Leu)
c.301A>T (p.Met101Leu)
c.169A>T (p.Met57Leu)
n.905A>T
1g.1804548T>CCA353592GNB1c.262A>G (p.Met88Val)
c.1A>G (p.Met1Val)
c.301A>G (p.Met101Val)
c.169A>G (p.Met57Val)
n.905A>G
 ClinVar dbSNP
1g.1804548T>GCA337915283GNB1c.262A>C (p.Met88Leu)
c.1A>C (p.Met1Leu)
c.301A>C (p.Met101Leu)
c.169A>C (p.Met57Leu)
n.905A>C
1g.1804548T=CA1149323369GNB1c.262A= (p.Met88=)
c.1A= (p.Met1=)
c.301A= (p.Met101=)
c.169A= (p.Met57=)
n.905A=
1g.1804549G>ACA415404184GNB1c.261C>T (p.Val87=)
c.-1C>T (n.-1C>T)
c.300C>T (p.Val100=)
c.168C>T (p.Val56=)
n.904C>T
1g.1804549G>CCA415404185GNB1c.261C>G (p.Val87=)
c.-1C>G (n.-1C>G)
c.300C>G (p.Val100=)
c.168C>G (p.Val56=)
n.904C>G
1g.1804549G=CA1143443040GNB1c.261C= (p.Val87=)
c.-1C= (n.-1C=)
c.300C= (p.Val100=)
c.168C= (p.Val56=)
n.904C=
1g.1804549G>TCA532050GNB1c.261C>A (p.Val87=)
c.-1C>A (n.-1C>A)
c.300C>A (p.Val100=)
c.168C>A (p.Val56=)
n.904C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.1804550A>CCA337915287GNB1c.260T>G (p.Val87Gly)
c.-2T>G (n.-2T>G)
c.299T>G (p.Val100Gly)
c.167T>G (p.Val56Gly)
n.903T>G
1g.1804550A>GCA337915289GNB1c.260T>C (p.Val87Ala)
c.-2T>C (n.-2T>C)
c.299T>C (p.Val100Ala)
c.167T>C (p.Val56Ala)
n.903T>C
1g.1804550A>TCA337915292GNB1c.260T>A (p.Val87Asp)
c.-2T>A (n.-2T>A)
c.299T>A (p.Val100Asp)
c.167T>A (p.Val56Asp)
n.903T>A
1g.1804551C>ACA337915295GNB1c.259G>T (p.Val87Phe)
c.-3G>T (n.-3G>T)
c.298G>T (p.Val100Phe)
c.166G>T (p.Val56Phe)
n.902G>T
1g.1804551C>GCA337915297GNB1c.259G>C (p.Val87Leu)
c.-3G>C (n.-3G>C)
c.298G>C (p.Val100Leu)
c.166G>C (p.Val56Leu)
n.902G>C
1g.1804551C>TCA337915305GNB1c.259G>A (p.Val87Ile)
c.-3G>A (n.-3G>A)
c.298G>A (p.Val100Ile)
c.166G>A (p.Val56Ile)
n.902G>A
1g.1804552C>ACA337915308GNB1c.258G>T (p.Trp86Cys)
c.-4G>T (n.-4G>T)
c.297G>T (p.Trp99Cys)
c.165G>T (p.Trp55Cys)
n.901G>T
 COSMIC
1g.1804552C>GCA337915312GNB1c.258G>C (p.Trp86Cys)
c.-4G>C (n.-4G>C)
c.297G>C (p.Trp99Cys)
c.165G>C (p.Trp55Cys)
n.901G>C
1g.1804552C>TCA337915315GNB1c.258G>A (p.Trp86Ter)
c.-4G>A (n.-4G>A)
c.297G>A (p.Trp99Ter)
c.165G>A (p.Trp55Ter)
n.901G>A
1g.1804553C>ACA337915320GNB1c.257G>T (p.Trp86Leu)
c.-5G>T (n.-5G>T)
c.296G>T (p.Trp99Leu)
c.164G>T (p.Trp55Leu)
n.900G>T
1g.1804553C>GCA337915323GNB1c.257G>C (p.Trp86Ser)
c.-5G>C (n.-5G>C)
c.296G>C (p.Trp99Ser)
c.164G>C (p.Trp55Ser)
n.900G>C
1g.1804553C>TCA337915318GNB1c.257G>A (p.Trp86Ter)
c.-5G>A (n.-5G>A)
c.296G>A (p.Trp99Ter)
c.164G>A (p.Trp55Ter)
n.900G>A
1g.1804554A>CCA337915326GNB1c.256T>G (p.Trp86Gly)
c.-6T>G (n.-6T>G)
c.295T>G (p.Trp99Gly)
c.163T>G (p.Trp55Gly)
n.899T>G
1g.1804554A>GCA337915329GNB1c.256T>C (p.Trp86Arg)
c.-6T>C (n.-6T>C)
c.295T>C (p.Trp99Arg)
c.163T>C (p.Trp55Arg)
n.899T>C
1g.1804554A>TCA337915331GNB1c.256T>A (p.Trp86Arg)
c.-6T>A (n.-6T>A)
c.295T>A (p.Trp99Arg)
c.163T>A (p.Trp55Arg)
n.899T>A
1g.1804555G>ACA532051GNB1c.255C>T (p.Ser85=)
c.-7C>T (n.-7C>T)
c.294C>T (p.Ser98=)
c.162C>T (p.Ser54=)
n.898C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.1804555G>CCA415404186GNB1c.255C>G (p.Ser85=)
c.-7C>G (n.-7C>G)
c.294C>G (p.Ser98=)
c.162C>G (p.Ser54=)
n.898C>G
1g.1804555G=CA1148421758GNB1c.255C= (p.Ser85=)
c.-7C= (n.-7C=)
c.294C= (p.Ser98=)
c.162C= (p.Ser54=)
n.898C=
1g.1804555G>TCA415404187GNB1c.255C>A (p.Ser85=)
c.-7C>A (n.-7C>A)
c.294C>A (p.Ser98=)
c.162C>A (p.Ser54=)
n.898C>A
1g.1804556G>ACA337915338GNB1c.254C>T (p.Ser85Phe)
c.-8C>T (n.-8C>T)
c.293C>T (p.Ser98Phe)
c.161C>T (p.Ser54Phe)
n.897C>T
 ClinVar
1g.1804556G>CCA337915341GNB1c.254C>G (p.Ser85Cys)
c.-8C>G (n.-8C>G)
c.293C>G (p.Ser98Cys)
c.161C>G (p.Ser54Cys)
n.897C>G
1g.1804556G>TCA337915344GNB1c.254C>A (p.Ser85Tyr)
c.-8C>A (n.-8C>A)
c.293C>A (p.Ser98Tyr)
c.161C>A (p.Ser54Tyr)
n.897C>A
1g.1804557A>CCA337915349GNB1c.253T>G (p.Ser85Ala)
c.-9T>G (n.-9T>G)
c.292T>G (p.Ser98Ala)
c.160T>G (p.Ser54Ala)
n.896T>G
1g.1804557A>GCA337915351GNB1c.253T>C (p.Ser85Pro)
c.-9T>C (n.-9T>C)
c.292T>C (p.Ser98Pro)
c.160T>C (p.Ser54Pro)
n.896T>C
1g.1804557A>TCA337915354GNB1c.253T>A (p.Ser85Thr)
c.-9T>A (n.-9T>A)
c.292T>A (p.Ser98Thr)
c.160T>A (p.Ser54Thr)
n.896T>A
1g.1804558G>ACA415404188GNB1c.252C>T (p.Ser84=)
c.-10C>T (n.-10C>T)
c.291C>T (p.Ser97=)
c.159C>T (p.Ser53=)
n.895C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.1804558G>CCA415404190GNB1c.252C>G (p.Ser84=)
c.-10C>G (n.-10C>G)
c.291C>G (p.Ser97=)
c.159C>G (p.Ser53=)
n.895C>G
1g.1804558G=CA1149323370GNB1c.252C= (p.Ser84=)
c.-10C= (n.-10C=)
c.291C= (p.Ser97=)
c.159C= (p.Ser53=)
n.895C=
1g.1804558G>TCA415404189GNB1c.252C>A (p.Ser84=)
c.-10C>A (n.-10C>A)
c.291C>A (p.Ser97=)
c.159C>A (p.Ser53=)
n.895C>A
1g.1804559G>ACA337915356GNB1c.251C>T (p.Ser84Phe)
c.-11C>T (n.-11C>T)
c.290C>T (p.Ser97Phe)
c.158C>T (p.Ser53Phe)
n.894C>T
1g.1804559G>CCA337915360GNB1c.251C>G (p.Ser84Cys)
c.-11C>G (n.-11C>G)
c.290C>G (p.Ser97Cys)
c.158C>G (p.Ser53Cys)
n.894C>G
1g.1804559G>TCA337915362GNB1c.251C>A (p.Ser84Tyr)
c.-11C>A (n.-11C>A)
c.290C>A (p.Ser97Tyr)
c.158C>A (p.Ser53Tyr)
n.894C>A
1g.1804560A>CCA337915370GNB1c.250T>G (p.Ser84Ala)
c.-12T>G (n.-12T>G)
c.289T>G (p.Ser97Ala)
c.157T>G (p.Ser53Ala)
n.893T>G
1g.1804560A>GCA337915368GNB1c.250T>C (p.Ser84Pro)
c.-12T>C (n.-12T>C)
c.289T>C (p.Ser97Pro)
c.157T>C (p.Ser53Pro)
n.893T>C
1g.1804560A>TCA337915366GNB1c.250T>A (p.Ser84Thr)
c.-12T>A (n.-12T>A)
c.289T>A (p.Ser97Thr)
c.157T>A (p.Ser53Thr)
n.893T>A

Number of alleles fetched