Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.94471607A>CCA382375540MRE11c.812T>G (p.Val271Gly)
c.821T>G (p.Val274Gly)
c.344T>G (p.Val115Gly)
n.1108T>G
11g.94471607A>GCA382375542MRE11c.812T>C (p.Val271Ala)
c.821T>C (p.Val274Ala)
c.344T>C (p.Val115Ala)
n.1108T>C
11g.94471607A>TCA382375544MRE11c.812T>A (p.Val271Asp)
c.821T>A (p.Val274Asp)
c.344T>A (p.Val115Asp)
n.1108T>A
11g.94471608C>ACA382375548MRE11c.811G>T (p.Val271Phe)
c.820G>T (p.Val274Phe)
c.343G>T (p.Val115Phe)
n.1107G>T
 dbSNP gnomAD v2 gnomAD v4
11g.94471608C=CA1992427083MRE11c.811G= (p.Val271=)
c.820G= (p.Val274=)
c.343G= (p.Val115=)
n.1107G=
11g.94471608C>GCA382375546MRE11c.811G>C (p.Val271Leu)
c.820G>C (p.Val274Leu)
c.343G>C (p.Val115Leu)
n.1107G>C
11g.94471608C>TCA382375547MRE11c.811G>A (p.Val271Ile)
c.820G>A (p.Val274Ile)
c.343G>A (p.Val115Ile)
n.1107G>A
11g.94471609C>ACA476284335MRE11c.810G>T (p.Val270=)
c.819G>T (p.Val273=)
c.342G>T (p.Val114=)
n.1106G>T
11g.94471609C>GCA476284336MRE11c.810G>C (p.Val270=)
c.819G>C (p.Val273=)
c.342G>C (p.Val114=)
n.1106G>C
 ClinVar dbSNP
11g.94471609C>TCA476284337MRE11c.810G>A (p.Val270=)
c.819G>A (p.Val273=)
c.342G>A (p.Val114=)
n.1106G>A
11g.94471610A>CCA382375549MRE11c.809T>G (p.Val270Gly)
c.818T>G (p.Val273Gly)
c.341T>G (p.Val114Gly)
n.1105T>G
11g.94471610A>GCA382375551MRE11c.809T>C (p.Val270Ala)
c.818T>C (p.Val273Ala)
c.341T>C (p.Val114Ala)
n.1105T>C
11g.94471610A>TCA382375553MRE11c.809T>A (p.Val270Glu)
c.818T>A (p.Val273Glu)
c.341T>A (p.Val114Glu)
n.1105T>A
11g.94471611C>ACA382375555MRE11c.808G>T (p.Val270Leu)
c.817G>T (p.Val273Leu)
c.340G>T (p.Val114Leu)
n.1104G>T
 ClinVar dbSNP
11g.94471611C=CA1992427089MRE11c.808G= (p.Val270=)
c.817G= (p.Val273=)
c.340G= (p.Val114=)
n.1104G=
11g.94471611C>GCA382375556MRE11c.808G>C (p.Val270Leu)
c.817G>C (p.Val273Leu)
c.340G>C (p.Val114Leu)
n.1104G>C
11g.94471611C>TCA382375557MRE11c.808G>A (p.Val270Met)
c.817G>A (p.Val273Met)
c.340G>A (p.Val114Met)
n.1104G>A
11g.94471612T>ACA476284338MRE11c.807A>T (p.Ser269=)
c.816A>T (p.Ser272=)
c.339A>T (p.Ser113=)
n.1103A>T
11g.94471612T>CCA476284339MRE11c.807A>G (p.Ser269=)
c.816A>G (p.Ser272=)
c.339A>G (p.Ser113=)
n.1103A>G
 dbSNP gnomAD v2
11g.94471612T>GCA476284340MRE11c.807A>C (p.Ser269=)
c.816A>C (p.Ser272=)
c.339A>C (p.Ser113=)
n.1103A>C
 ClinVar dbSNP
11g.94471612T=CA1992427093MRE11c.807A= (p.Ser269=)
c.816A= (p.Ser272=)
c.339A= (p.Ser113=)
n.1103A=
11g.94471613G>ACA6235302MRE11c.806C>T (p.Ser269Leu)
c.815C>T (p.Ser272Leu)
c.338C>T (p.Ser113Leu)
n.1102C>T
 dbSNP ExAC gnomAD v2
11g.94471613G>CCA10579397MRE11c.806C>G (p.Ser269Ter)
c.815C>G (p.Ser272Ter)
c.338C>G (p.Ser113Ter)
n.1102C>G
 ClinVar dbSNP gnomAD v4
11g.94471613G=CA1992427105MRE11c.806C= (p.Ser269=)
c.815C= (p.Ser272=)
c.338C= (p.Ser113=)
n.1102C=
11g.94471613G>TCA382375561MRE11c.806C>A (p.Ser269Ter)
c.815C>A (p.Ser272Ter)
c.338C>A (p.Ser113Ter)
n.1102C>A
11g.94471614A>CCA382375563MRE11c.805T>G (p.Ser269Ala)
c.814T>G (p.Ser272Ala)
c.337T>G (p.Ser113Ala)
n.1101T>G
11g.94471614A>GCA382375565MRE11c.805T>C (p.Ser269Pro)
c.814T>C (p.Ser272Pro)
c.337T>C (p.Ser113Pro)
n.1101T>C
11g.94471614A>TCA382375566MRE11c.805T>A (p.Ser269Thr)
c.814T>A (p.Ser272Thr)
c.337T>A (p.Ser113Thr)
n.1101T>A
11g.94471615G>ACA6235303MRE11c.804C>T (p.Ser268=)
c.813C>T (p.Ser271=)
c.336C>T (p.Ser112=)
n.1100C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.94471615G>CCA382375568MRE11c.804C>G (p.Ser268Arg)
c.813C>G (p.Ser271Arg)
c.336C>G (p.Ser112Arg)
n.1100C>G
11g.94471615G=CA1992427113MRE11c.804C= (p.Ser268=)
c.813C= (p.Ser271=)
c.336C= (p.Ser112=)
n.1100C=
11g.94471615G>TCA382375567MRE11c.804C>A (p.Ser268Arg)
c.813C>A (p.Ser271Arg)
c.336C>A (p.Ser112Arg)
n.1100C>A
11g.94471616C>ACA382375572MRE11c.803G>T (p.Ser268Ile)
c.812G>T (p.Ser271Ile)
c.335G>T (p.Ser112Ile)
n.1099G>T
11g.94471616C=CA1992427118MRE11c.803G= (p.Ser268=)
c.812G= (p.Ser271=)
c.335G= (p.Ser112=)
n.1099G=
11g.94471616C>GCA382375569MRE11c.803G>C (p.Ser268Thr)
c.812G>C (p.Ser271Thr)
c.335G>C (p.Ser112Thr)
n.1099G>C
 dbSNP gnomAD v3 gnomAD v4
11g.94471616C>TCA382375571MRE11c.803G>A (p.Ser268Asn)
c.812G>A (p.Ser271Asn)
c.335G>A (p.Ser112Asn)
n.1099G>A
11g.94471617T>ACA382375573MRE11c.802A>T (p.Ser268Cys)
c.811A>T (p.Ser271Cys)
c.334A>T (p.Ser112Cys)
n.1098A>T
 dbSNP
11g.94471617T>CCA382375574MRE11c.802A>G (p.Ser268Gly)
c.811A>G (p.Ser271Gly)
c.334A>G (p.Ser112Gly)
n.1098A>G
 ClinVar dbSNP
11g.94471617T>GCA382375576MRE11c.802A>C (p.Ser268Arg)
c.811A>C (p.Ser271Arg)
c.334A>C (p.Ser112Arg)
n.1098A>C
11g.94471618T>ACA476284342MRE11c.801A>T (p.Gly267=)
c.810A>T (p.Gly270=)
c.333A>T (p.Gly111=)
n.1097A>T
11g.94471618T>CCA6235304MRE11c.801A>G (p.Gly267=)
c.810A>G (p.Gly270=)
c.333A>G (p.Gly111=)
n.1097A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.94471618T>GCA476284341MRE11c.801A>C (p.Gly267=)
c.810A>C (p.Gly270=)
c.333A>C (p.Gly111=)
n.1097A>C
11g.94471618T=CA1992427122MRE11c.801A= (p.Gly267=)
c.810A= (p.Gly270=)
c.333A= (p.Gly111=)
n.1097A=
11g.94471619C>ACA382375577MRE11c.800G>T (p.Gly267Val)
c.809G>T (p.Gly270Val)
c.332G>T (p.Gly111Val)
n.1096G>T
11g.94471619C=CA1992427132MRE11c.800G= (p.Gly267=)
c.809G= (p.Gly270=)
c.332G= (p.Gly111=)
n.1096G=
11g.94471619C>GCA382375578MRE11c.800G>C (p.Gly267Ala)
c.809G>C (p.Gly270Ala)
c.332G>C (p.Gly111Ala)
n.1096G>C
11g.94471619C>TCA382375579MRE11c.800G>A (p.Gly267Glu)
c.809G>A (p.Gly270Glu)
c.332G>A (p.Gly111Glu)
n.1096G>A
 ClinVar dbSNP
11g.94471619_94471620delCA2615587912MRE11c.799_800del (p.Gly267LysfsTer23)
c.808_809del (p.Gly270LysfsTer23)
c.331_332del (p.Gly111LysfsTer23)
n.1095_1096del
 gnomAD v4
11g.94471620C>ACA382375581MRE11c.799G>T (p.Gly267Ter)
c.808G>T (p.Gly270Ter)
c.331G>T (p.Gly111Ter)
n.1095G>T
11g.94471620C>GCA382375582MRE11c.799G>C (p.Gly267Arg)
c.808G>C (p.Gly270Arg)
c.331G>C (p.Gly111Arg)
n.1095G>C

Number of alleles fetched