Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.94476286delCA382376464MRE11c.659+6del (n.659+6del)
c.668+6del (n.668+6del)
c.191+6del (n.191+6del)
n.955+6del
 dbSNP gnomAD v4
11g.94476287A>CCA382376472MRE11c.659+2T>G (n.659+2T>G)
c.668+2T>G (n.668+2T>G)
c.191+2T>G (n.191+2T>G)
n.955+2T>G
11g.94476287A>GCA382376470MRE11c.659+2T>C (n.659+2T>C)
c.668+2T>C (n.668+2T>C)
c.191+2T>C (n.191+2T>C)
n.955+2T>C
11g.94476287A>TCA382376467MRE11c.659+2T>A (n.659+2T>A)
c.668+2T>A (n.668+2T>A)
c.191+2T>A (n.191+2T>A)
n.955+2T>A
11g.94476288C>ACA382376476MRE11c.659+1G>T (n.659+1G>T)
c.668+1G>T (n.668+1G>T)
c.191+1G>T (n.191+1G>T)
n.955+1G>T
11g.94476288C=CA1992433061MRE11c.659+1G= (n.659+1G=)
c.668+1G= (n.668+1G=)
c.191+1G= (n.191+1G=)
n.955+1G=
11g.94476288C>GCA382376479MRE11c.659+1G>C (n.659+1G>C)
c.668+1G>C (n.668+1G>C)
c.191+1G>C (n.191+1G>C)
n.955+1G>C
11g.94476288C>TCA6235344MRE11c.659+1G>A (n.659+1G>A)
c.668+1G>A (n.668+1G>A)
c.191+1G>A (n.191+1G>A)
n.955+1G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.94476289C>ACA382376483MRE11c.659G>T (p.Arg220Met)
c.668G>T (p.Arg223Met)
c.191G>T (p.Arg64Met)
n.955G>T
11g.94476289C>GCA382376485MRE11c.659G>C (p.Arg220Thr)
c.668G>C (p.Arg223Thr)
c.191G>C (p.Arg64Thr)
n.955G>C
11g.94476289C>TCA382376486MRE11c.659G>A (p.Arg220Lys)
c.668G>A (p.Arg223Lys)
c.191G>A (p.Arg64Lys)
n.955G>A
11g.94476290T>ACA382376489MRE11c.658A>T (p.Arg220Trp)
c.667A>T (p.Arg223Trp)
c.190A>T (p.Arg64Trp)
n.954A>T
11g.94476290T>CCA382376491MRE11c.658A>G (p.Arg220Gly)
c.667A>G (p.Arg223Gly)
c.190A>G (p.Arg64Gly)
n.954A>G
 gnomAD v4
11g.94476290T>GCA6235345MRE11c.658A>C (p.Arg220=)
c.667A>C (p.Arg223=)
c.190A>C (p.Arg64=)
n.954A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.94476290T=CA1992433074MRE11c.658A= (p.Arg220=)
c.667A= (p.Arg223=)
c.190A= (p.Arg64=)
n.954A=
11g.94476291G>ACA6235346MRE11c.657C>T (p.Asn219=)
c.666C>T (p.Asn222=)
c.189C>T (p.Asn63=)
n.953C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.94476291G>CCA382376497MRE11c.657C>G (p.Asn219Lys)
c.666C>G (p.Asn222Lys)
c.189C>G (p.Asn63Lys)
n.953C>G
 ClinVar dbSNP
11g.94476291G=CA1992433079MRE11c.657C= (p.Asn219=)
c.666C= (p.Asn222=)
c.189C= (p.Asn63=)
n.953C=
11g.94476291G>TCA382376503MRE11c.657C>A (p.Asn219Lys)
c.666C>A (p.Asn222Lys)
c.189C>A (p.Asn63Lys)
n.953C>A
11g.94476291_94476292delinsGTCA1992433084MRE11c.656_657delinsAC (p.Asn219=)
c.665_666delinsAC (p.Asn222=)
c.188_189delinsAC (p.Asn63=)
n.952_953delinsAC
11g.94476292T>ACA382376509MRE11c.656A>T (p.Asn219Ile)
c.665A>T (p.Asn222Ile)
c.188A>T (p.Asn63Ile)
n.952A>T
11g.94476292T>CCA382376508MRE11c.656A>G (p.Asn219Ser)
c.665A>G (p.Asn222Ser)
c.188A>G (p.Asn63Ser)
n.952A>G
11g.94476292T>GCA382376506MRE11c.656A>C (p.Asn219Thr)
c.665A>C (p.Asn222Thr)
c.188A>C (p.Asn63Thr)
n.952A>C
11g.94476293delCA600841620MRE11c.656del (p.Asn219ThrfsTer?)
c.665del (p.Asn222ThrfsTer?)
c.656del (p.Asn219ThrfsTer7)
c.188del (p.Asn63ThrfsTer?)
n.952del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.94476293T>ACA382376510MRE11c.655A>T (p.Asn219Tyr)
c.664A>T (p.Asn222Tyr)
c.187A>T (p.Asn63Tyr)
n.951A>T
11g.94476293T>CCA382376511MRE11c.655A>G (p.Asn219Asp)
c.664A>G (p.Asn222Asp)
c.187A>G (p.Asn63Asp)
n.951A>G
11g.94476293T>GCA382376512MRE11c.655A>C (p.Asn219His)
c.664A>C (p.Asn222His)
c.187A>C (p.Asn63His)
n.951A>C
11g.94476294C>ACA382376513MRE11c.654G>T (p.Gln218His)
c.663G>T (p.Gln221His)
c.186G>T (p.Gln62His)
n.950G>T
 ClinVar dbSNP
11g.94476294C=CA1992433091MRE11c.654G= (p.Gln218=)
c.663G= (p.Gln221=)
c.186G= (p.Gln62=)
n.950G=
11g.94476294C>GCA382376515MRE11c.654G>C (p.Gln218His)
c.663G>C (p.Gln221His)
c.186G>C (p.Gln62His)
n.950G>C
11g.94476294C>TCA476286722MRE11c.654G>A (p.Gln218=)
c.663G>A (p.Gln221=)
c.186G>A (p.Gln62=)
n.950G>A
11g.94476295T>ACA382376516MRE11c.653A>T (p.Gln218Leu)
c.662A>T (p.Gln221Leu)
c.185A>T (p.Gln62Leu)
n.949A>T
11g.94476295T>CCA288184MRE11c.653A>G (p.Gln218Arg)
c.662A>G (p.Gln221Arg)
c.185A>G (p.Gln62Arg)
n.949A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.94476295T>GCA382376520MRE11c.653A>C (p.Gln218Pro)
c.662A>C (p.Gln221Pro)
c.185A>C (p.Gln62Pro)
n.949A>C
11g.94476295T=CA1992433097MRE11c.653A= (p.Gln218=)
c.662A= (p.Gln221=)
c.185A= (p.Gln62=)
n.949A=
11g.94476296G>ACA382376521MRE11c.652C>T (p.Gln218Ter)
c.661C>T (p.Gln221Ter)
c.184C>T (p.Gln62Ter)
n.948C>T
 ClinVar dbSNP gnomAD v4
11g.94476296G>CCA382376523MRE11c.652C>G (p.Gln218Glu)
c.661C>G (p.Gln221Glu)
c.184C>G (p.Gln62Glu)
n.948C>G
11g.94476296G=CA1992433107MRE11c.652C= (p.Gln218=)
c.661C= (p.Gln221=)
c.184C= (p.Gln62=)
n.948C=
11g.94476296G>TCA382376525MRE11c.652C>A (p.Gln218Lys)
c.661C>A (p.Gln221Lys)
c.184C>A (p.Gln62Lys)
n.948C>A
 COSMIC COSMIC
11g.94476297A>CCA382376527MRE11c.651T>G (p.His217Gln)
c.660T>G (p.His220Gln)
c.183T>G (p.His61Gln)
n.947T>G
11g.94476297A>GCA476286724MRE11c.651T>C (p.His217=)
c.660T>C (p.His220=)
c.183T>C (p.His61=)
n.947T>C
11g.94476297A>TCA382376528MRE11c.651T>A (p.His217Gln)
c.660T>A (p.His220Gln)
c.183T>A (p.His61Gln)
n.947T>A
11g.94476298T>ACA382376534MRE11c.650A>T (p.His217Leu)
c.659A>T (p.His220Leu)
c.182A>T (p.His61Leu)
n.946A>T
11g.94476298T>CCA382376532MRE11c.650A>G (p.His217Arg)
c.659A>G (p.His220Arg)
c.182A>G (p.His61Arg)
n.946A>G
11g.94476298T>GCA382376530MRE11c.650A>C (p.His217Pro)
c.659A>C (p.His220Pro)
c.182A>C (p.His61Pro)
n.946A>C
 ClinVar
11g.94476299G>ACA382376535MRE11c.649C>T (p.His217Tyr)
c.658C>T (p.His220Tyr)
c.181C>T (p.His61Tyr)
n.945C>T
11g.94476299G>CCA382376537MRE11c.649C>G (p.His217Asp)
c.658C>G (p.His220Asp)
c.181C>G (p.His61Asp)
n.945C>G
11g.94476299G>TCA382376539MRE11c.649C>A (p.His217Asn)
c.658C>A (p.His220Asn)
c.181C>A (p.His61Asn)
n.945C>A
11g.94476300A>CCA382376541MRE11c.648T>G (p.Ile216Met)
c.657T>G (p.Ile219Met)
c.180T>G (p.Ile60Met)
n.944T>G
11g.94476300A>GCA476286726MRE11c.648T>C (p.Ile216=)
c.657T>C (p.Ile219=)
c.180T>C (p.Ile60=)
n.944T>C
11g.94476300A>TCA476286727MRE11c.648T>A (p.Ile216=)
c.657T>A (p.Ile219=)
c.180T>A (p.Ile60=)
n.944T>A
11g.94476301A>CCA382376544MRE11c.647T>G (p.Ile216Ser)
c.656T>G (p.Ile219Ser)
c.179T>G (p.Ile60Ser)
n.943T>G
11g.94476301A>GCA382376547MRE11c.647T>C (p.Ile216Thr)
c.656T>C (p.Ile219Thr)
c.179T>C (p.Ile60Thr)
n.943T>C
11g.94476301A>TCA382376549MRE11c.647T>A (p.Ile216Asn)
c.656T>A (p.Ile219Asn)
c.179T>A (p.Ile60Asn)
n.943T>A
11g.94476302T>ACA382376552MRE11c.646A>T (p.Ile216Phe)
c.655A>T (p.Ile219Phe)
c.178A>T (p.Ile60Phe)
n.942A>T
11g.94476302T>CCA382376555MRE11c.646A>G (p.Ile216Val)
c.655A>G (p.Ile219Val)
c.178A>G (p.Ile60Val)
n.942A>G
 gnomAD v4
11g.94476302T>GCA382376557MRE11c.646A>C (p.Ile216Leu)
c.655A>C (p.Ile219Leu)
c.178A>C (p.Ile60Leu)
n.942A>C
11g.94476303C>ACA476286728MRE11c.645G>T (p.Val215=)
c.654G>T (p.Val218=)
c.177G>T (p.Val59=)
n.941G>T
11g.94476303C=CA1992433110MRE11c.645G= (p.Val215=)
c.654G= (p.Val218=)
c.177G= (p.Val59=)
n.941G=
11g.94476303C>GCA196532MRE11c.645G>C (p.Val215=)
c.654G>C (p.Val218=)
c.177G>C (p.Val59=)
n.941G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.94476303C>TCA476286729MRE11c.645G>A (p.Val215=)
c.654G>A (p.Val218=)
c.177G>A (p.Val59=)
n.941G>A
 dbSNP gnomAD v4
11g.94476304A>CCA382376562MRE11c.644T>G (p.Val215Gly)
c.653T>G (p.Val218Gly)
c.176T>G (p.Val59Gly)
n.940T>G
11g.94476304A>GCA382376564MRE11c.644T>C (p.Val215Ala)
c.653T>C (p.Val218Ala)
c.176T>C (p.Val59Ala)
n.940T>C
11g.94476304A>TCA382376566MRE11c.644T>A (p.Val215Glu)
c.653T>A (p.Val218Glu)
c.176T>A (p.Val59Glu)
n.940T>A
11g.94476305C>ACA382376569MRE11c.643G>T (p.Val215Leu)
c.652G>T (p.Val218Leu)
c.175G>T (p.Val59Leu)
n.939G>T
11g.94476305C=CA1992433113MRE11c.643G= (p.Val215=)
c.652G= (p.Val218=)
c.175G= (p.Val59=)
n.939G=
11g.94476305C>GCA382376572MRE11c.643G>C (p.Val215Leu)
c.652G>C (p.Val218Leu)
c.175G>C (p.Val59Leu)
n.939G>C
11g.94476305C>TCA6235347MRE11c.643G>A (p.Val215Met)
c.652G>A (p.Val218Met)
c.175G>A (p.Val59Met)
n.939G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.94476306A>CCA382376576MRE11c.642T>G (p.Phe214Leu)
c.651T>G (p.Phe217Leu)
c.174T>G (p.Phe58Leu)
n.938T>G
11g.94476306A>GCA476286730MRE11c.642T>C (p.Phe214=)
c.651T>C (p.Phe217=)
c.174T>C (p.Phe58=)
n.938T>C
11g.94476306A>TCA382376577MRE11c.642T>A (p.Phe214Leu)
c.651T>A (p.Phe217Leu)
c.174T>A (p.Phe58Leu)
n.938T>A
11g.94476308_94476311delCA2615589614MRE11c.639_642del (p.Phe214Ter)
c.648_651del (p.Phe217Ter)
c.171_174del (p.Phe58Ter)
n.935_938del
 gnomAD v4
11g.94476307A=CA1992433116MRE11c.641T= (p.Phe214=)
c.650T= (p.Phe217=)
c.173T= (p.Phe58=)
n.937T=
11g.94476307A>CCA382376579MRE11c.641T>G (p.Phe214Cys)
c.650T>G (p.Phe217Cys)
c.173T>G (p.Phe58Cys)
n.937T>G
 ClinVar dbSNP gnomAD v4
11g.94476307A>GCA6235348MRE11c.641T>C (p.Phe214Ser)
c.650T>C (p.Phe217Ser)
c.173T>C (p.Phe58Ser)
n.937T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.94476307A>TCA382376584MRE11c.641T>A (p.Phe214Tyr)
c.650T>A (p.Phe217Tyr)
c.173T>A (p.Phe58Tyr)
n.937T>A
11g.94476308A=CA1992433118MRE11c.640T= (p.Phe214=)
c.649T= (p.Phe217=)
c.172T= (p.Phe58=)
n.936T=
11g.94476308A>CCA382376587MRE11c.640T>G (p.Phe214Val)
c.649T>G (p.Phe217Val)
c.172T>G (p.Phe58Val)
n.936T>G
11g.94476308A>GCA333908MRE11c.640T>C (p.Phe214Leu)
c.649T>C (p.Phe217Leu)
c.172T>C (p.Phe58Leu)
n.936T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.94476308A>TCA382376590MRE11c.640T>A (p.Phe214Ile)
c.649T>A (p.Phe217Ile)
c.172T>A (p.Phe58Ile)
n.936T>A
11g.94476309T>ACA6235349MRE11c.639A>T (p.Leu213Phe)
c.648A>T (p.Leu216Phe)
c.171A>T (p.Leu57Phe)
n.935A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.94476309T>CCA476286731MRE11c.639A>G (p.Leu213=)
c.648A>G (p.Leu216=)
c.171A>G (p.Leu57=)
n.935A>G
11g.94476309T>GCA382376594MRE11c.639A>C (p.Leu213Phe)
c.648A>C (p.Leu216Phe)
c.171A>C (p.Leu57Phe)
n.935A>C
11g.94476309T=CA1992433121MRE11c.639A= (p.Leu213=)
c.648A= (p.Leu216=)
c.171A= (p.Leu57=)
n.935A=
11g.94476310A>CCA382376598MRE11c.638T>G (p.Leu213Ter)
c.647T>G (p.Leu216Ter)
c.170T>G (p.Leu57Ter)
n.934T>G
11g.94476310A>GCA382376600MRE11c.638T>C (p.Leu213Ser)
c.647T>C (p.Leu216Ser)
c.170T>C (p.Leu57Ser)
n.934T>C
11g.94476310A>TCA382376602MRE11c.638T>A (p.Leu213Ter)
c.647T>A (p.Leu216Ter)
c.170T>A (p.Leu57Ter)
n.934T>A
11g.94476311A>CCA382376605MRE11c.637T>G (p.Leu213Val)
c.646T>G (p.Leu216Val)
c.169T>G (p.Leu57Val)
n.933T>G
11g.94476311A>GCA476286732MRE11c.637T>C (p.Leu213=)
c.646T>C (p.Leu216=)
c.169T>C (p.Leu57=)
n.933T>C
11g.94476311A>TCA382376606MRE11c.637T>A (p.Leu213Ile)
c.646T>A (p.Leu216Ile)
c.169T>A (p.Leu57Ile)
n.933T>A
11g.94476312G>ACA10579403MRE11c.636C>T (p.Asn212=)
c.645C>T (p.Asn215=)
c.168C>T (p.Asn56=)
n.932C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.94476312G>CCA382376611MRE11c.636C>G (p.Asn212Lys)
c.645C>G (p.Asn215Lys)
c.168C>G (p.Asn56Lys)
n.932C>G
11g.94476312G=CA1992433124MRE11c.636C= (p.Asn212=)
c.645C= (p.Asn215=)
c.168C= (p.Asn56=)
n.932C=
11g.94476312G>TCA382376612MRE11c.636C>A (p.Asn212Lys)
c.645C>A (p.Asn215Lys)
c.168C>A (p.Asn56Lys)
n.932C>A
11g.94476313T>ACA382376615MRE11c.635A>T (p.Asn212Ile)
c.644A>T (p.Asn215Ile)
c.167A>T (p.Asn56Ile)
n.931A>T
 dbSNP
11g.94476313T>CCA6235350MRE11c.635A>G (p.Asn212Ser)
c.644A>G (p.Asn215Ser)
c.167A>G (p.Asn56Ser)
n.931A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.94476313T>GCA382376618MRE11c.635A>C (p.Asn212Thr)
c.644A>C (p.Asn215Thr)
c.167A>C (p.Asn56Thr)
n.931A>C
11g.94476313T=CA1992433133MRE11c.635A= (p.Asn212=)
c.644A= (p.Asn215=)
c.167A= (p.Asn56=)
n.931A=
11g.94476314T>ACA382376621MRE11c.634A>T (p.Asn212Tyr)
c.643A>T (p.Asn215Tyr)
c.166A>T (p.Asn56Tyr)
n.930A>T
11g.94476314T>CCA191083MRE11c.634A>G (p.Asn212Asp)
c.643A>G (p.Asn215Asp)
c.166A>G (p.Asn56Asp)
n.930A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.94476314T>GCA382376625MRE11c.634A>C (p.Asn212His)
c.643A>C (p.Asn215His)
c.166A>C (p.Asn56His)
n.930A>C
11g.94476314T=CA1992433136MRE11c.634A= (p.Asn212=)
c.643A= (p.Asn215=)
c.166A= (p.Asn56=)
n.930A=
11g.94476315A>CCA382376627MRE11c.633T>G (p.Phe211Leu)
c.642T>G (p.Phe214Leu)
c.165T>G (p.Phe55Leu)
n.929T>G
 gnomAD v4
11g.94476315A>GCA476286736MRE11c.633T>C (p.Phe211=)
c.642T>C (p.Phe214=)
c.165T>C (p.Phe55=)
n.929T>C
11g.94476315A>TCA382376629MRE11c.633T>A (p.Phe211Leu)
c.642T>A (p.Phe214Leu)
c.165T>A (p.Phe55Leu)
n.929T>A
11g.94476316A>CCA382376638MRE11c.632T>G (p.Phe211Cys)
c.641T>G (p.Phe214Cys)
c.164T>G (p.Phe55Cys)
n.928T>G
11g.94476316A>GCA382376635MRE11c.632T>C (p.Phe211Ser)
c.641T>C (p.Phe214Ser)
c.164T>C (p.Phe55Ser)
n.928T>C
11g.94476316A>TCA382376633MRE11c.632T>A (p.Phe211Tyr)
c.641T>A (p.Phe214Tyr)
c.164T>A (p.Phe55Tyr)
n.928T>A
11g.94476317A>CCA382376640MRE11c.631T>G (p.Phe211Val)
c.640T>G (p.Phe214Val)
c.163T>G (p.Phe55Val)
n.927T>G
11g.94476317A>GCA382376645MRE11c.631T>C (p.Phe211Leu)
c.640T>C (p.Phe214Leu)
c.163T>C (p.Phe55Leu)
n.927T>C
11g.94476317A>TCA382376643MRE11c.631T>A (p.Phe211Ile)
c.640T>A (p.Phe214Ile)
c.163T>A (p.Phe55Ile)
n.927T>A
11g.94476318C>ACA382376647MRE11c.630G>T (p.Trp210Cys)
c.639G>T (p.Trp213Cys)
c.162G>T (p.Trp54Cys)
n.926G>T
11g.94476318C=CA1992433143MRE11c.630G= (p.Trp210=)
c.639G= (p.Trp213=)
c.162G= (p.Trp54=)
n.926G=
11g.94476318C>GCA119930MRE11c.630G>C (p.Trp210Cys)
c.639G>C (p.Trp213Cys)
c.162G>C (p.Trp54Cys)
n.926G>C
 ClinVar dbSNP
11g.94476318C>TCA382376649MRE11c.630G>A (p.Trp210Ter)
c.639G>A (p.Trp213Ter)
c.162G>A (p.Trp54Ter)
n.926G>A
11g.94476319C>ACA382376653MRE11c.629G>T (p.Trp210Leu)
c.638G>T (p.Trp213Leu)
c.161G>T (p.Trp54Leu)
n.925G>T
11g.94476319C>GCA382376658MRE11c.629G>C (p.Trp210Ser)
c.638G>C (p.Trp213Ser)
c.161G>C (p.Trp54Ser)
n.925G>C
11g.94476319C>TCA382376655MRE11c.629G>A (p.Trp210Ter)
c.638G>A (p.Trp213Ter)
c.161G>A (p.Trp54Ter)
n.925G>A
11g.94476319_94476321delinsCAACA1992433150MRE11c.627_629delinsTTG (p.Ser209=)
c.636_638delinsTTG (p.Ser212=)
c.159_161delinsTTG (p.Ser53=)
n.923_925delinsTTG
11g.94476320A>CCA382376662MRE11c.628T>G (p.Trp210Gly)
c.637T>G (p.Trp213Gly)
c.160T>G (p.Trp54Gly)
n.924T>G
11g.94476320A>GCA382376665MRE11c.628T>C (p.Trp210Arg)
c.637T>C (p.Trp213Arg)
c.160T>C (p.Trp54Arg)
n.924T>C
11g.94476320A>TCA382376668MRE11c.628T>A (p.Trp210Arg)
c.637T>A (p.Trp213Arg)
c.160T>A (p.Trp54Arg)
n.924T>A
11g.94476320_94476321delCA299298MRE11c.627_628del (p.Trp210ValfsTer2)
c.636_637del (p.Trp213ValfsTer2)
c.159_160del (p.Trp54ValfsTer2)
n.923_924del
 ClinVar dbSNP
11g.94476321delCA2580085086MRE11c.628del (p.Trp210GlyfsTer6)
c.637del (p.Trp213GlyfsTer6)
c.160del (p.Trp54GlyfsTer6)
n.924del
 ClinVar gnomAD v4
11g.94476321A>CCA476286742MRE11c.627T>G (p.Ser209=)
c.636T>G (p.Ser212=)
c.159T>G (p.Ser53=)
n.923T>G
11g.94476321A>GCA476286743MRE11c.627T>C (p.Ser209=)
c.636T>C (p.Ser212=)
c.159T>C (p.Ser53=)
n.923T>C
11g.94476321A>TCA476286744MRE11c.627T>A (p.Ser209=)
c.636T>A (p.Ser212=)
c.159T>A (p.Ser53=)
n.923T>A
11g.94476322G>ACA382376671MRE11c.626C>T (p.Ser209Phe)
c.635C>T (p.Ser212Phe)
c.158C>T (p.Ser53Phe)
n.922C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.94476322G>CCA382376672MRE11c.626C>G (p.Ser209Cys)
c.635C>G (p.Ser212Cys)
c.158C>G (p.Ser53Cys)
n.922C>G
11g.94476322G=CA1992433157MRE11c.626C= (p.Ser209=)
c.635C= (p.Ser212=)
c.158C= (p.Ser53=)
n.922C=
11g.94476322G>TCA382376673MRE11c.626C>A (p.Ser209Tyr)
c.635C>A (p.Ser212Tyr)
c.158C>A (p.Ser53Tyr)
n.922C>A
11g.94476323A>CCA382376675MRE11c.625T>G (p.Ser209Ala)
c.634T>G (p.Ser212Ala)
c.157T>G (p.Ser53Ala)
n.921T>G
11g.94476323A>GCA382376676MRE11c.625T>C (p.Ser209Pro)
c.634T>C (p.Ser212Pro)
c.157T>C (p.Ser53Pro)
n.921T>C
11g.94476323A>TCA382376677MRE11c.625T>A (p.Ser209Thr)
c.634T>A (p.Ser212Thr)
c.157T>A (p.Ser53Thr)
n.921T>A
11g.94476324G>ACA476286745MRE11c.624C>T (p.Asn208=)
c.633C>T (p.Asn211=)
c.156C>T (p.Asn52=)
n.920C>T
 ClinVar dbSNP gnomAD v4
11g.94476324G>CCA382376678MRE11c.624C>G (p.Asn208Lys)
c.633C>G (p.Asn211Lys)
c.156C>G (p.Asn52Lys)
n.920C>G
 gnomAD v4
11g.94476324G=CA1992433168MRE11c.624C= (p.Asn208=)
c.633C= (p.Asn211=)
c.156C= (p.Asn52=)
n.920C=
11g.94476324G>TCA382376679MRE11c.624C>A (p.Asn208Lys)
c.633C>A (p.Asn211Lys)
c.156C>A (p.Asn52Lys)
n.920C>A
11g.94476325T>ACA382376681MRE11c.623A>T (p.Asn208Ile)
c.632A>T (p.Asn211Ile)
c.155A>T (p.Asn52Ile)
n.919A>T
11g.94476325T>CCA382376682MRE11c.623A>G (p.Asn208Ser)
c.632A>G (p.Asn211Ser)
c.155A>G (p.Asn52Ser)
n.919A>G
11g.94476325T>GCA382376683MRE11c.623A>C (p.Asn208Thr)
c.632A>C (p.Asn211Thr)
c.155A>C (p.Asn52Thr)
n.919A>C
11g.94476326T>ACA382376685MRE11c.622A>T (p.Asn208Tyr)
c.631A>T (p.Asn211Tyr)
c.154A>T (p.Asn52Tyr)
n.918A>T
11g.94476326T>CCA382376688MRE11c.622A>G (p.Asn208Asp)
c.631A>G (p.Asn211Asp)
c.154A>G (p.Asn52Asp)
n.918A>G
11g.94476326T>GCA382376689MRE11c.622A>C (p.Asn208His)
c.631A>C (p.Asn211His)
c.154A>C (p.Asn52His)
n.918A>C
 ClinVar
11g.94476327C>ACA382376690MRE11c.621G>T (p.Glu207Asp)
c.630G>T (p.Glu210Asp)
c.153G>T (p.Glu51Asp)
n.917G>T
11g.94476327C>GCA382376693MRE11c.621G>C (p.Glu207Asp)
c.630G>C (p.Glu210Asp)
c.153G>C (p.Glu51Asp)
n.917G>C
 ClinVar
11g.94476327C>TCA476286749MRE11c.621G>A (p.Glu207=)
c.630G>A (p.Glu210=)
c.153G>A (p.Glu51=)
n.917G>A
 ClinVar
11g.94476328T>ACA382376697MRE11c.620A>T (p.Glu207Val)
c.629A>T (p.Glu210Val)
c.152A>T (p.Glu51Val)
n.916A>T
11g.94476328T>CCA382376699MRE11c.620A>G (p.Glu207Gly)
c.629A>G (p.Glu210Gly)
c.152A>G (p.Glu51Gly)
n.916A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.94476328T>GCA382376702MRE11c.620A>C (p.Glu207Ala)
c.629A>C (p.Glu210Ala)
c.152A>C (p.Glu51Ala)
n.916A>C
11g.94476328T=CA1992433175MRE11c.620A= (p.Glu207=)
c.629A= (p.Glu210=)
c.152A= (p.Glu51=)
n.916A=
11g.94476329C>ACA382376704MRE11c.619G>T (p.Glu207Ter)
c.628G>T (p.Glu210Ter)
c.151G>T (p.Glu51Ter)
n.915G>T
11g.94476329C>GCA382376706MRE11c.619G>C (p.Glu207Gln)
c.628G>C (p.Glu210Gln)
c.151G>C (p.Glu51Gln)
n.915G>C
11g.94476329C>TCA382376708MRE11c.619G>A (p.Glu207Lys)
c.628G>A (p.Glu210Lys)
c.151G>A (p.Glu51Lys)
n.915G>A
11g.94476330A=CA1992433194MRE11c.618T= (p.Asp206=)
c.627T= (p.Asp209=)
c.150T= (p.Asp50=)
n.914T=
11g.94476330A>CCA382376710MRE11c.618T>G (p.Asp206Glu)
c.627T>G (p.Asp209Glu)
c.150T>G (p.Asp50Glu)
n.914T>G
11g.94476330A>GCA188823MRE11c.618T>C (p.Asp206=)
c.627T>C (p.Asp209=)
c.150T>C (p.Asp50=)
n.914T>C
 ClinVar dbSNP gnomAD v4
11g.94476330A>TCA382376715MRE11c.618T>A (p.Asp206Glu)
c.627T>A (p.Asp209Glu)
c.150T>A (p.Asp50Glu)
n.914T>A
11g.94476331T>ACA382376718MRE11c.617A>T (p.Asp206Val)
c.626A>T (p.Asp209Val)
c.149A>T (p.Asp50Val)
n.913A>T
11g.94476331T>CCA382376720MRE11c.617A>G (p.Asp206Gly)
c.626A>G (p.Asp209Gly)
c.149A>G (p.Asp50Gly)
n.913A>G
 ClinVar
11g.94476331T>GCA382376723MRE11c.617A>C (p.Asp206Ala)
c.626A>C (p.Asp209Ala)
c.149A>C (p.Asp50Ala)
n.913A>C
 dbSNP
11g.94476331T=CA1992433196MRE11c.617A= (p.Asp206=)
c.626A= (p.Asp209=)
c.149A= (p.Asp50=)
n.913A=
11g.94476332C>ACA382376726MRE11c.616G>T (p.Asp206Tyr)
c.625G>T (p.Asp209Tyr)
c.148G>T (p.Asp50Tyr)
n.912G>T
 COSMIC COSMIC
11g.94476332C>GCA382376732MRE11c.616G>C (p.Asp206His)
c.625G>C (p.Asp209His)
c.148G>C (p.Asp50His)
n.912G>C
11g.94476332C>TCA382376728MRE11c.616G>A (p.Asp206Asn)
c.625G>A (p.Asp209Asn)
c.148G>A (p.Asp50Asn)
n.912G>A
 dbSNP
11g.94476333T>ACA382376734MRE11c.615A>T (p.Glu205Asp)
c.624A>T (p.Glu208Asp)
c.147A>T (p.Glu49Asp)
n.911A>T
 dbSNP
11g.94476333T>CCA476286751MRE11c.615A>G (p.Glu205=)
c.624A>G (p.Glu208=)
c.147A>G (p.Glu49=)
n.911A>G
 gnomAD v4
11g.94476333T>GCA382376737MRE11c.615A>C (p.Glu205Asp)
c.624A>C (p.Glu208Asp)
c.147A>C (p.Glu49Asp)
n.911A>C
11g.94476334T>ACA382376741MRE11c.614A>T (p.Glu205Val)
c.623A>T (p.Glu208Val)
c.146A>T (p.Glu49Val)
n.910A>T
11g.94476334T>CCA382376743MRE11c.614A>G (p.Glu205Gly)
c.623A>G (p.Glu208Gly)
c.146A>G (p.Glu49Gly)
n.910A>G
11g.94476334T>GCA382376746MRE11c.614A>C (p.Glu205Ala)
c.623A>C (p.Glu208Ala)
c.146A>C (p.Glu49Ala)
n.910A>C
11g.94476335C>ACA382376749MRE11c.613G>T (p.Glu205Ter)
c.622G>T (p.Glu208Ter)
c.145G>T (p.Glu49Ter)
n.909G>T
11g.94476335C>GCA382376751MRE11c.613G>C (p.Glu205Gln)
c.622G>C (p.Glu208Gln)
c.145G>C (p.Glu49Gln)
n.909G>C
11g.94476335C>TCA382376752MRE11c.613G>A (p.Glu205Lys)
c.622G>A (p.Glu208Lys)
c.145G>A (p.Glu49Lys)
n.909G>A
11g.94476336C>ACA382376754MRE11c.612G>T (p.Lys204Asn)
c.621G>T (p.Lys207Asn)
c.144G>T (p.Lys48Asn)
n.908G>T
11g.94476336C>GCA382376757MRE11c.612G>C (p.Lys204Asn)
c.621G>C (p.Lys207Asn)
c.144G>C (p.Lys48Asn)
n.908G>C
11g.94476336C>TCA476286752MRE11c.612G>A (p.Lys204=)
c.621G>A (p.Lys207=)
c.144G>A (p.Lys48=)
n.908G>A
 gnomAD v4
11g.94476337T>ACA382376764MRE11c.611A>T (p.Lys204Met)
c.620A>T (p.Lys207Met)
c.143A>T (p.Lys48Met)
n.907A>T
11g.94476337T>CCA10579404MRE11c.611A>G (p.Lys204Arg)
c.620A>G (p.Lys207Arg)
c.143A>G (p.Lys48Arg)
n.907A>G
 ClinVar dbSNP
11g.94476337T>GCA382376769MRE11c.611A>C (p.Lys204Thr)
c.620A>C (p.Lys207Thr)
c.143A>C (p.Lys48Thr)
n.907A>C
11g.94476337T=CA1992433198MRE11c.611A= (p.Lys204=)
c.620A= (p.Lys207=)
c.143A= (p.Lys48=)
n.907A=
11g.94476338T>ACA382376772MRE11c.610A>T (p.Lys204Ter)
c.619A>T (p.Lys207Ter)
c.142A>T (p.Lys48Ter)
n.906A>T
11g.94476338T>CCA382376776MRE11c.610A>G (p.Lys204Glu)
c.619A>G (p.Lys207Glu)
c.142A>G (p.Lys48Glu)
n.906A>G
 dbSNP
11g.94476338T>GCA382376773MRE11c.610A>C (p.Lys204Gln)
c.619A>C (p.Lys207Gln)
c.142A>C (p.Lys48Gln)
n.906A>C
11g.94476338T=CA1992433205MRE11c.610A= (p.Lys204=)
c.619A= (p.Lys207=)
c.142A= (p.Lys48=)
n.906A=
11g.94476339T>ACA476286754MRE11c.609A>T (p.Pro203=)
c.618A>T (p.Pro206=)
c.141A>T (p.Pro47=)
n.905A>T
11g.94476339T>CCA476286755MRE11c.609A>G (p.Pro203=)
c.618A>G (p.Pro206=)
c.141A>G (p.Pro47=)
n.905A>G
 gnomAD v4
11g.94476339T>GCA6235351MRE11c.609A>C (p.Pro203=)
c.618A>C (p.Pro206=)
c.141A>C (p.Pro47=)
n.905A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.94476339T=CA1992433209MRE11c.609A= (p.Pro203=)
c.618A= (p.Pro206=)
c.141A= (p.Pro47=)
n.905A=
11g.94476340G>ACA382376781MRE11c.608C>T (p.Pro203Leu)
c.617C>T (p.Pro206Leu)
c.140C>T (p.Pro47Leu)
n.904C>T
11g.94476340G>CCA382376783MRE11c.608C>G (p.Pro203Arg)
c.617C>G (p.Pro206Arg)
c.140C>G (p.Pro47Arg)
n.904C>G
11g.94476340G>TCA382376786MRE11c.608C>A (p.Pro203Gln)
c.617C>A (p.Pro206Gln)
c.140C>A (p.Pro47Gln)
n.904C>A
11g.94476341G>ACA6235352MRE11c.607C>T (p.Pro203Ser)
c.616C>T (p.Pro206Ser)
c.139C>T (p.Pro47Ser)
n.903C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.94476341G>CCA382376789MRE11c.607C>G (p.Pro203Ala)
c.616C>G (p.Pro206Ala)
c.139C>G (p.Pro47Ala)
n.903C>G
 gnomAD v4
11g.94476341G=CA1992433218MRE11c.607C= (p.Pro203=)
c.616C= (p.Pro206=)
c.139C= (p.Pro47=)
n.903C=
11g.94476341G>TCA382376792MRE11c.607C>A (p.Pro203Thr)
c.616C>A (p.Pro206Thr)
c.139C>A (p.Pro47Thr)
n.903C>A
11g.94476342T>ACA382376795MRE11c.606A>T (p.Arg202Ser)
c.615A>T (p.Arg205Ser)
c.138A>T (p.Arg46Ser)
n.902A>T
 gnomAD v4
11g.94476342T>CCA476286756MRE11c.606A>G (p.Arg202=)
c.615A>G (p.Arg205=)
c.138A>G (p.Arg46=)
n.902A>G
11g.94476342T>GCA382376798MRE11c.606A>C (p.Arg202Ser)
c.615A>C (p.Arg205Ser)
c.138A>C (p.Arg46Ser)
n.902A>C
11g.94476343C>ACA382376807MRE11c.605G>T (p.Arg202Ile)
c.614G>T (p.Arg205Ile)
c.137G>T (p.Arg46Ile)
n.901G>T
 gnomAD v4
11g.94476343C=CA1992433228MRE11c.605G= (p.Arg202=)
c.614G= (p.Arg205=)
c.137G= (p.Arg46=)
n.901G=
11g.94476343C>GCA382376805MRE11c.605G>C (p.Arg202Thr)
c.614G>C (p.Arg205Thr)
c.137G>C (p.Arg46Thr)
n.901G>C
 ClinVar
11g.94476343C>TCA382376801MRE11c.605G>A (p.Arg202Lys)
c.614G>A (p.Arg205Lys)
c.137G>A (p.Arg46Lys)
n.901G>A
 ClinVar dbSNP
11g.94476344T>ACA382376809MRE11c.604A>T (p.Arg202Ter)
c.613A>T (p.Arg205Ter)
c.136A>T (p.Arg46Ter)
n.900A>T
11g.94476344T>CCA288181MRE11c.604A>G (p.Arg202Gly)
c.613A>G (p.Arg205Gly)
c.136A>G (p.Arg46Gly)
n.900A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.94476344T>GCA476286760MRE11c.604A>C (p.Arg202=)
c.613A>C (p.Arg205=)
c.136A>C (p.Arg46=)
n.900A>C
11g.94476344T=CA1992433230MRE11c.604A= (p.Arg202=)
c.613A= (p.Arg205=)
c.136A= (p.Arg46=)
n.900A=
11g.94476345C>ACA382376814MRE11c.603G>T (p.Leu201Phe)
c.612G>T (p.Leu204Phe)
c.135G>T (p.Leu45Phe)
n.899G>T
11g.94476345C>GCA382376816MRE11c.603G>C (p.Leu201Phe)
c.612G>C (p.Leu204Phe)
c.135G>C (p.Leu45Phe)
n.899G>C
11g.94476345C>TCA476286761MRE11c.603G>A (p.Leu201=)
c.612G>A (p.Leu204=)
c.135G>A (p.Leu45=)
n.899G>A
11g.94476346A>CCA382376818MRE11c.602T>G (p.Leu201Trp)
c.611T>G (p.Leu204Trp)
c.134T>G (p.Leu45Trp)
n.898T>G
 ClinVar
11g.94476346A>GCA382376821MRE11c.602T>C (p.Leu201Ser)
c.611T>C (p.Leu204Ser)
c.134T>C (p.Leu45Ser)
n.898T>C
11g.94476346A>TCA382376823MRE11c.602T>A (p.Leu201Ter)
c.611T>A (p.Leu204Ter)
c.134T>A (p.Leu45Ter)
n.898T>A
11g.94476347A>CCA382376825MRE11c.601T>G (p.Leu201Val)
c.610T>G (p.Leu204Val)
c.133T>G (p.Leu45Val)
n.897T>G
11g.94476347A>GCA476286762MRE11c.601T>C (p.Leu201=)
c.610T>C (p.Leu204=)
c.133T>C (p.Leu45=)
n.897T>C
 gnomAD v4
11g.94476347A>TCA382376828MRE11c.601T>A (p.Leu201Met)
c.610T>A (p.Leu204Met)
c.133T>A (p.Leu45Met)
n.897T>A
11g.94476348C>ACA382376834MRE11c.600G>T (p.Met200Ile)
c.609G>T (p.Met203Ile)
c.132G>T (p.Met44Ile)
n.896G>T
11g.94476348C>GCA382376838MRE11c.600G>C (p.Met200Ile)
c.609G>C (p.Met203Ile)
c.132G>C (p.Met44Ile)
n.896G>C
11g.94476348C>TCA382376844MRE11c.600G>A (p.Met200Ile)
c.609G>A (p.Met203Ile)
c.132G>A (p.Met44Ile)
n.896G>A
11g.94476349A=CA1992433234MRE11c.599T= (p.Met200=)
c.608T= (p.Met203=)
c.131T= (p.Met44=)
n.895T=
11g.94476349A>CCA382376846MRE11c.599T>G (p.Met200Arg)
c.608T>G (p.Met203Arg)
c.131T>G (p.Met44Arg)
n.895T>G
11g.94476349A>GCA6235353MRE11c.599T>C (p.Met200Thr)
c.608T>C (p.Met203Thr)
c.131T>C (p.Met44Thr)
n.895T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.94476349A>TCA382376848MRE11c.599T>A (p.Met200Lys)
c.608T>A (p.Met203Lys)
c.131T>A (p.Met44Lys)
n.895T>A
11g.94476350T>ACA382376854MRE11c.598A>T (p.Met200Leu)
c.607A>T (p.Met203Leu)
c.130A>T (p.Met44Leu)
n.894A>T
11g.94476350T>CCA382376850MRE11c.598A>G (p.Met200Val)
c.607A>G (p.Met203Val)
c.130A>G (p.Met44Val)
n.894A>G
 ClinVar dbSNP
11g.94476350T>GCA382376853MRE11c.598A>C (p.Met200Leu)
c.607A>C (p.Met203Leu)
c.130A>C (p.Met44Leu)
n.894A>C
11g.94476350T=CA1992433243MRE11c.598A= (p.Met200=)
c.607A= (p.Met203=)
c.130A= (p.Met44=)
n.894A=
11g.94476351T>ACA476286764MRE11c.597A>T (p.Thr199=)
c.606A>T (p.Thr202=)
c.129A>T (p.Thr43=)
n.893A>T
 COSMIC
11g.94476351T>CCA476286765MRE11c.597A>G (p.Thr199=)
c.606A>G (p.Thr202=)
c.129A>G (p.Thr43=)
n.893A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.94476351T>GCA476286766MRE11c.597A>C (p.Thr199=)
c.606A>C (p.Thr202=)
c.129A>C (p.Thr43=)
n.893A>C
11g.94476351T=CA1992433247MRE11c.597A= (p.Thr199=)
c.606A= (p.Thr202=)
c.129A= (p.Thr43=)
n.893A=
11g.94476352G>ACA226532672MRE11c.596C>T (p.Thr199Ile)
c.605C>T (p.Thr202Ile)
c.128C>T (p.Thr43Ile)
n.892C>T
 ClinVar dbSNP gnomAD v4
11g.94476352G>CCA382376857MRE11c.596C>G (p.Thr199Arg)
c.605C>G (p.Thr202Arg)
c.128C>G (p.Thr43Arg)
n.892C>G
11g.94476352G=CA1992433254MRE11c.596C= (p.Thr199=)
c.605C= (p.Thr202=)
c.128C= (p.Thr43=)
n.892C=
11g.94476352G>TCA382376860MRE11c.596C>A (p.Thr199Lys)
c.605C>A (p.Thr202Lys)
c.128C>A (p.Thr43Lys)
n.892C>A
11g.94476353T>ACA382376864MRE11c.595A>T (p.Thr199Ser)
c.604A>T (p.Thr202Ser)
c.127A>T (p.Thr43Ser)
n.891A>T
11g.94476353T>CCA382376865MRE11c.595A>G (p.Thr199Ala)
c.604A>G (p.Thr202Ala)
c.127A>G (p.Thr43Ala)
n.891A>G
 gnomAD v4
11g.94476353T>GCA382376866MRE11c.595A>C (p.Thr199Pro)
c.604A>C (p.Thr202Pro)
c.127A>C (p.Thr43Pro)
n.891A>C
11g.94476354T>ACA476286769MRE11c.594A>T (p.Val198=)
c.603A>T (p.Val201=)
c.126A>T (p.Val42=)
n.890A>T
11g.94476354T>CCA476286770MRE11c.594A>G (p.Val198=)
c.603A>G (p.Val201=)
c.126A>G (p.Val42=)
n.890A>G
11g.94476354T>GCA476286768MRE11c.594A>C (p.Val198=)
c.603A>C (p.Val201=)
c.126A>C (p.Val42=)
n.890A>C
11g.94476355A>CCA382376868MRE11c.593T>G (p.Val198Gly)
c.602T>G (p.Val201Gly)
c.125T>G (p.Val42Gly)
n.889T>G
 ClinVar gnomAD v4
11g.94476355A>GCA382376869MRE11c.593T>C (p.Val198Ala)
c.602T>C (p.Val201Ala)
c.125T>C (p.Val42Ala)
n.889T>C
 gnomAD v4
11g.94476355A>TCA382376872MRE11c.593T>A (p.Val198Glu)
c.602T>A (p.Val201Glu)
c.125T>A (p.Val42Glu)
n.889T>A
11g.94476355_94476356delinsACCA1992433260MRE11c.592_593delinsGT (p.Val198=)
c.601_602delinsGT (p.Val201=)
c.124_125delinsGT (p.Val42=)
n.888_889delinsGT
11g.94476356delCA600841621MRE11c.592del (p.Val198Ter)
c.601del (p.Val201Ter)
c.124del (p.Val42Ter)
n.888del
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.94476356C>ACA10579405MRE11c.592G>T (p.Val198Leu)
c.601G>T (p.Val201Leu)
c.124G>T (p.Val42Leu)
n.888G>T
 ClinVar dbSNP
11g.94476356C=CA1992433263MRE11c.592G= (p.Val198=)
c.601G= (p.Val201=)
c.124G= (p.Val42=)
n.888G=
11g.94476356C>GCA382376875MRE11c.592G>C (p.Val198Leu)
c.601G>C (p.Val201Leu)
c.124G>C (p.Val42Leu)
n.888G>C
11g.94476356C>TCA382376876MRE11c.592G>A (p.Val198Ile)
c.601G>A (p.Val201Ile)
c.124G>A (p.Val42Ile)
n.888G>A
11g.94476357T>ACA382376878MRE11c.591A>T (p.Lys197Asn)
c.600A>T (p.Lys200Asn)
c.123A>T (p.Lys41Asn)
n.887A>T
11g.94476357T>CCA476286774MRE11c.591A>G (p.Lys197=)
c.600A>G (p.Lys200=)
c.123A>G (p.Lys41=)
n.887A>G
11g.94476357T>GCA382376880MRE11c.591A>C (p.Lys197Asn)
c.600A>C (p.Lys200Asn)
c.123A>C (p.Lys41Asn)
n.887A>C
11g.94476362dupCA2615589633MRE11c.591dup (p.Val198SerfsTer10)
c.600dup (p.Val201SerfsTer10)
c.123dup (p.Val42SerfsTer10)
n.887dup
 gnomAD v4
11g.94476362delCA2615589634MRE11c.591del (p.Val198Ter)
c.600del (p.Val201Ter)
c.123del (p.Val42Ter)
n.887del
 dbSNP gnomAD v4
11g.94476358T>ACA382376881MRE11c.590A>T (p.Lys197Ile)
c.599A>T (p.Lys200Ile)
c.122A>T (p.Lys41Ile)
n.886A>T
11g.94476358T>CCA382376883MRE11c.590A>G (p.Lys197Arg)
c.599A>G (p.Lys200Arg)
c.122A>G (p.Lys41Arg)
n.886A>G
11g.94476358T>GCA382376885MRE11c.590A>C (p.Lys197Thr)
c.599A>C (p.Lys200Thr)
c.122A>C (p.Lys41Thr)
n.886A>C
11g.94476359T>ACA382376887MRE11c.589A>T (p.Lys197Ter)
c.598A>T (p.Lys200Ter)
c.121A>T (p.Lys41Ter)
n.885A>T
11g.94476359T>CCA382376889MRE11c.589A>G (p.Lys197Glu)
c.598A>G (p.Lys200Glu)
c.121A>G (p.Lys41Glu)
n.885A>G
11g.94476359T>GCA382376890MRE11c.589A>C (p.Lys197Gln)
c.598A>C (p.Lys200Gln)
c.121A>C (p.Lys41Gln)
n.885A>C
11g.94476360T>ACA382376892MRE11c.588A>T (p.Lys196Asn)
c.597A>T (p.Lys199Asn)
c.120A>T (p.Lys40Asn)
n.884A>T
11g.94476360T>CCA195920MRE11c.588A>G (p.Lys196=)
c.597A>G (p.Lys199=)
c.120A>G (p.Lys40=)
n.884A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.94476360T>GCA382376894MRE11c.588A>C (p.Lys196Asn)
c.597A>C (p.Lys199Asn)
c.120A>C (p.Lys40Asn)
n.884A>C
11g.94476360T=CA1992433268MRE11c.588A= (p.Lys196=)
c.597A= (p.Lys199=)
c.120A= (p.Lys40=)
n.884A=
11g.94476361T>ACA382376895MRE11c.587A>T (p.Lys196Ile)
c.596A>T (p.Lys199Ile)
c.119A>T (p.Lys40Ile)
n.883A>T
11g.94476361T>CCA6235354MRE11c.587A>G (p.Lys196Arg)
c.596A>G (p.Lys199Arg)
c.119A>G (p.Lys40Arg)
n.883A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.94476361T>GCA382376897MRE11c.587A>C (p.Lys196Thr)
c.596A>C (p.Lys199Thr)
c.119A>C (p.Lys40Thr)
n.883A>C
11g.94476361T=CA1992433271MRE11c.587A= (p.Lys196=)
c.596A= (p.Lys199=)
c.119A= (p.Lys40=)
n.883A=
11g.94476363_94476365delCA2615589635MRE11c.585_587del (p.Asn195del)
c.594_596del (p.Asn198del)
c.117_119del (p.Asn39del)
n.881_883del
 gnomAD v4
11g.94476362T>ACA382376902MRE11c.586A>T (p.Lys196Ter)
c.595A>T (p.Lys199Ter)
c.118A>T (p.Lys40Ter)
n.882A>T
11g.94476362T>CCA382376901MRE11c.586A>G (p.Lys196Glu)
c.595A>G (p.Lys199Glu)
c.118A>G (p.Lys40Glu)
n.882A>G
 ClinVar dbSNP
11g.94476362T>GCA382376899MRE11c.586A>C (p.Lys196Gln)
c.595A>C (p.Lys199Gln)
c.118A>C (p.Lys40Gln)
n.882A>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.94476362T=CA1992433275MRE11c.586A= (p.Lys196=)
c.595A= (p.Lys199=)
c.118A= (p.Lys40=)
n.882A=
11g.94476363A=CA1992433279MRE11c.585T= (p.Asn195=)
c.594T= (p.Asn198=)
c.117T= (p.Asn39=)
n.881T=
11g.94476363A>CCA382376905MRE11c.585T>G (p.Asn195Lys)
c.594T>G (p.Asn198Lys)
c.117T>G (p.Asn39Lys)
n.881T>G
11g.94476363A>GCA10635935MRE11c.585T>C (p.Asn195=)
c.594T>C (p.Asn198=)
c.117T>C (p.Asn39=)
n.881T>C
 ClinVar dbSNP COSMIC COSMIC
11g.94476363A>TCA382376907MRE11c.585T>A (p.Asn195Lys)
c.594T>A (p.Asn198Lys)
c.117T>A (p.Asn39Lys)
n.881T>A
11g.94476364T>ACA382376909MRE11c.584A>T (p.Asn195Ile)
c.593A>T (p.Asn198Ile)
c.116A>T (p.Asn39Ile)
n.880A>T
11g.94476364T>CCA382376910MRE11c.584A>G (p.Asn195Ser)
c.593A>G (p.Asn198Ser)
c.116A>G (p.Asn39Ser)
n.880A>G
 ClinVar dbSNP
11g.94476364T>GCA382376912MRE11c.584A>C (p.Asn195Thr)
c.593A>C (p.Asn198Thr)
c.116A>C (p.Asn39Thr)
n.880A>C
11g.94476364T=CA1992433289MRE11c.584A= (p.Asn195=)
c.593A= (p.Asn198=)
c.116A= (p.Asn39=)
n.880A=
11g.94476365T>ACA382376914MRE11c.583A>T (p.Asn195Tyr)
c.592A>T (p.Asn198Tyr)
c.115A>T (p.Asn39Tyr)
n.879A>T
11g.94476365T>CCA382376916MRE11c.583A>G (p.Asn195Asp)
c.592A>G (p.Asn198Asp)
c.115A>G (p.Asn39Asp)
n.879A>G
11g.94476365T>GCA382376918MRE11c.583A>C (p.Asn195His)
c.592A>C (p.Asn198His)
c.115A>C (p.Asn39His)
n.879A>C
11g.94476366G>ACA476286777MRE11c.582C>T (p.Val194=)
c.591C>T (p.Val197=)
c.114C>T (p.Val38=)
n.878C>T
 ClinVar dbSNP gnomAD v4
11g.94476366G>CCA476286778MRE11c.582C>G (p.Val194=)
c.591C>G (p.Val197=)
c.114C>G (p.Val38=)
n.878C>G
 ClinVar
11g.94476366G=CA1992433291MRE11c.582C= (p.Val194=)
c.591C= (p.Val197=)
c.114C= (p.Val38=)
n.878C=
11g.94476366G>TCA476286779MRE11c.582C>A (p.Val194=)
c.591C>A (p.Val197=)
c.114C>A (p.Val38=)
n.878C>A
 dbSNP
11g.94476367A=CA1992433297MRE11c.581T= (p.Val194=)
c.590T= (p.Val197=)
c.113T= (p.Val38=)
n.877T=
11g.94476367A>CCA382376919MRE11c.581T>G (p.Val194Gly)
c.590T>G (p.Val197Gly)
c.113T>G (p.Val38Gly)
n.877T>G
 gnomAD v4
11g.94476367A>GCA382376921MRE11c.581T>C (p.Val194Ala)
c.590T>C (p.Val197Ala)
c.113T>C (p.Val38Ala)
n.877T>C
 ClinVar dbSNP
11g.94476367A>TCA382376922MRE11c.581T>A (p.Val194Asp)
c.590T>A (p.Val197Asp)
c.113T>A (p.Val38Asp)
n.877T>A
11g.94476367_94476368insAATGCCCTTAATCTTTCA918943633MRE11c.580_581insAAAGATTAAGGGCATT (p.Val194GlufsTer8)
c.589_590insAAAGATTAAGGGCATT (p.Val197GlufsTer8)
c.112_113insAAAGATTAAGGGCATT (p.Val38GlufsTer8)
n.876_877insAAAGATTAAGGGCATT
 dbSNP
11g.94476368C>ACA382376927MRE11c.580G>T (p.Val194Phe)
c.589G>T (p.Val197Phe)
c.112G>T (p.Val38Phe)
n.876G>T
 dbSNP gnomAD v2 gnomAD v4
11g.94476368C=CA1992433301MRE11c.580G= (p.Val194=)
c.589G= (p.Val197=)
c.112G= (p.Val38=)
n.876G=
11g.94476368C>GCA382376925MRE11c.580G>C (p.Val194Leu)
c.589G>C (p.Val197Leu)
c.112G>C (p.Val38Leu)
n.876G>C
11g.94476368C>TCA382376924MRE11c.580G>A (p.Val194Ile)
c.589G>A (p.Val197Ile)
c.112G>A (p.Val38Ile)
n.876G>A
11g.94476369A=CA1992433310MRE11c.579T= (p.Phe193=)
c.588T= (p.Phe196=)
c.111T= (p.Phe37=)
n.875T=
11g.94476369A>CCA382376929MRE11c.579T>G (p.Phe193Leu)
c.588T>G (p.Phe196Leu)
c.111T>G (p.Phe37Leu)
n.875T>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.94476369A>GCA476286780MRE11c.579T>C (p.Phe193=)
c.588T>C (p.Phe196=)
c.111T>C (p.Phe37=)
n.875T>C
11g.94476369A>TCA382376930MRE11c.579T>A (p.Phe193Leu)
c.588T>A (p.Phe196Leu)
c.111T>A (p.Phe37Leu)
n.875T>A
11g.94476370A>CCA382376932MRE11c.578T>G (p.Phe193Cys)
c.587T>G (p.Phe196Cys)
c.110T>G (p.Phe37Cys)
n.874T>G
11g.94476370A>GCA382376935MRE11c.578T>C (p.Phe193Ser)
c.587T>C (p.Phe196Ser)
c.110T>C (p.Phe37Ser)
n.874T>C
11g.94476370A>TCA382376933MRE11c.578T>A (p.Phe193Tyr)
c.587T>A (p.Phe196Tyr)
c.110T>A (p.Phe37Tyr)
n.874T>A
11g.94476370_94476371insGGTTGTCCA2724798586MRE11c.577_578insGACAACC (p.Phe193Ter)
c.586_587insGACAACC (p.Phe196Ter)
c.109_110insGACAACC (p.Phe37Ter)
n.873_874insGACAACC
 dbSNP
11g.94476371A>CCA382376937MRE11c.577T>G (p.Phe193Val)
c.586T>G (p.Phe196Val)
c.109T>G (p.Phe37Val)
n.873T>G
11g.94476371A>GCA382376939MRE11c.577T>C (p.Phe193Leu)
c.586T>C (p.Phe196Leu)
c.109T>C (p.Phe37Leu)
n.873T>C
11g.94476371A>TCA382376940MRE11c.577T>A (p.Phe193Ile)
c.586T>A (p.Phe196Ile)
c.109T>A (p.Phe37Ile)
n.873T>A
 gnomAD v4
11g.94476371_94476372insGTGCAAGATCA2724798611MRE11c.576_577insATCTTGCAC (p.Met192_Phe193insIleLeuHis)
c.585_586insATCTTGCAC (p.Met195_Phe196insIleLeuHis)
c.108_109insATCTTGCAC (p.Met36_Phe37insIleLeuHis)
n.872_873insATCTTGCAC
 dbSNP
11g.94476372C>ACA382376942MRE11c.576G>T (p.Met192Ile)
c.585G>T (p.Met195Ile)
c.108G>T (p.Met36Ile)
n.872G>T
11g.94476372C=CA1992433315MRE11c.576G= (p.Met192=)
c.585G= (p.Met195=)
c.108G= (p.Met36=)
n.872G=
11g.94476372C>GCA382376944MRE11c.576G>C (p.Met192Ile)
c.585G>C (p.Met195Ile)
c.108G>C (p.Met36Ile)
n.872G>C
 ClinVar gnomAD v4
11g.94476372C>TCA382376946MRE11c.576G>A (p.Met192Ile)
c.585G>A (p.Met195Ile)
c.108G>A (p.Met36Ile)
n.872G>A
 ClinVar dbSNP gnomAD v4
11g.94476373A>CCA382376948MRE11c.575T>G (p.Met192Arg)
c.584T>G (p.Met195Arg)
c.107T>G (p.Met36Arg)
n.871T>G
11g.94476373A>GCA382376949MRE11c.575T>C (p.Met192Thr)
c.584T>C (p.Met195Thr)
c.107T>C (p.Met36Thr)
n.871T>C
11g.94476373A>TCA382376951MRE11c.575T>A (p.Met192Lys)
c.584T>A (p.Met195Lys)
c.107T>A (p.Met36Lys)
n.871T>A
11g.94476374T>ACA382376953MRE11c.574A>T (p.Met192Leu)
c.583A>T (p.Met195Leu)
c.106A>T (p.Met36Leu)
n.870A>T
11g.94476374T>CCA382376955MRE11c.574A>G (p.Met192Val)
c.583A>G (p.Met195Val)
c.106A>G (p.Met36Val)
n.870A>G
11g.94476374T>GCA382376956MRE11c.574A>C (p.Met192Leu)
c.583A>C (p.Met195Leu)
c.106A>C (p.Met36Leu)
n.870A>C
11g.94476375T>ACA476286782MRE11c.573A>T (p.Arg191=)
c.582A>T (p.Arg194=)
c.105A>T (p.Arg35=)
n.869A>T
11g.94476375T>CCA476286784MRE11c.573A>G (p.Arg191=)
c.582A>G (p.Arg194=)
c.105A>G (p.Arg35=)
n.869A>G
11g.94476375T>GCA476286783MRE11c.573A>C (p.Arg191=)
c.582A>C (p.Arg194=)
c.105A>C (p.Arg35=)
n.869A>C
 ClinVar dbSNP gnomAD v4
11g.94476375T=CA1992433320MRE11c.573A= (p.Arg191=)
c.582A= (p.Arg194=)
c.105A= (p.Arg35=)
n.869A=
11g.94476376C>ACA382376961MRE11c.572G>T (p.Arg191Leu)
c.581G>T (p.Arg194Leu)
c.104G>T (p.Arg35Leu)
n.868G>T
 ClinVar dbSNP
11g.94476376C=CA1992433332MRE11c.572G= (p.Arg191=)
c.581G= (p.Arg194=)
c.104G= (p.Arg35=)
n.868G=
11g.94476376C>GCA382376958MRE11c.572G>C (p.Arg191Pro)
c.581G>C (p.Arg194Pro)
c.104G>C (p.Arg35Pro)
n.868G>C
11g.94476376C>TCA6235355MRE11c.572G>A (p.Arg191Gln)
c.581G>A (p.Arg194Gln)
c.104G>A (p.Arg35Gln)
n.868G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.94476377G>ACA382376962MRE11c.571C>T (p.Arg191Ter)
c.580C>T (p.Arg194Ter)
c.103C>T (p.Arg35Ter)
n.867C>T
 ClinVar dbSNP gnomAD v4
11g.94476377G>CCA382376964MRE11c.571C>G (p.Arg191Gly)
c.580C>G (p.Arg194Gly)
c.103C>G (p.Arg35Gly)
n.867C>G
 ClinVar gnomAD v4
11g.94476377G=CA1992433342MRE11c.571C= (p.Arg191=)
c.580C= (p.Arg194=)
c.103C= (p.Arg35=)
n.867C=
11g.94476377G>TCA476286785MRE11c.571C>A (p.Arg191=)
c.580C>A (p.Arg194=)
c.103C>A (p.Arg35=)
n.867C>A
 ClinVar gnomAD v4
11g.94476378A>CCA382376966MRE11c.570T>G (p.Tyr190Ter)
c.579T>G (p.Tyr193Ter)
c.102T>G (p.Tyr34Ter)
n.866T>G
11g.94476378A>GCA476286786MRE11c.570T>C (p.Tyr190=)
c.579T>C (p.Tyr193=)
c.102T>C (p.Tyr34=)
n.866T>C
 ClinVar
11g.94476378A>TCA382376968MRE11c.570T>A (p.Tyr190Ter)
c.579T>A (p.Tyr193Ter)
c.102T>A (p.Tyr34Ter)
n.866T>A
11g.94476379T>ACA382376969MRE11c.569A>T (p.Tyr190Phe)
c.578A>T (p.Tyr193Phe)
c.101A>T (p.Tyr34Phe)
n.865A>T
11g.94476379T>CCA226532683MRE11c.569A>G (p.Tyr190Cys)
c.578A>G (p.Tyr193Cys)
c.101A>G (p.Tyr34Cys)
n.865A>G
 ClinVar dbSNP gnomAD v4
11g.94476379T>GCA382376970MRE11c.569A>C (p.Tyr190Ser)
c.578A>C (p.Tyr193Ser)
c.101A>C (p.Tyr34Ser)
n.865A>C
11g.94476379T=CA1992433344MRE11c.569A= (p.Tyr190=)
c.578A= (p.Tyr193=)
c.101A= (p.Tyr34=)
n.865A=
11g.94476380A>CCA382376971MRE11c.568T>G (p.Tyr190Asp)
c.577T>G (p.Tyr193Asp)
c.100T>G (p.Tyr34Asp)
n.864T>G
11g.94476380A>GCA382376973MRE11c.568T>C (p.Tyr190His)
c.577T>C (p.Tyr193His)
c.100T>C (p.Tyr34His)
n.864T>C
 COSMIC
11g.94476380A>TCA382376975MRE11c.568T>A (p.Tyr190Asn)
c.577T>A (p.Tyr193Asn)
c.100T>A (p.Tyr34Asn)
n.864T>A
11g.94476381G>ACA476286787MRE11c.567C>T (p.Leu189=)
c.576C>T (p.Leu192=)
c.99C>T (p.Leu33=)
n.863C>T
 gnomAD v4
11g.94476381G>CCA476286788MRE11c.567C>G (p.Leu189=)
c.576C>G (p.Leu192=)
c.99C>G (p.Leu33=)
n.863C>G
 ClinVar dbSNP
11g.94476381G>TCA476286789MRE11c.567C>A (p.Leu189=)
c.576C>A (p.Leu192=)
c.99C>A (p.Leu33=)
n.863C>A
 gnomAD v4
11g.94476382A>CCA382376978MRE11c.566T>G (p.Leu189Arg)
c.575T>G (p.Leu192Arg)
c.98T>G (p.Leu33Arg)
n.862T>G
11g.94476382A>GCA382376977MRE11c.566T>C (p.Leu189Pro)
c.575T>C (p.Leu192Pro)
c.98T>C (p.Leu33Pro)
n.862T>C
11g.94476382A>TCA382376976MRE11c.566T>A (p.Leu189His)
c.575T>A (p.Leu192His)
c.98T>A (p.Leu33His)
n.862T>A
11g.94476383G>ACA382376981MRE11c.565C>T (p.Leu189Phe)
c.574C>T (p.Leu192Phe)
c.97C>T (p.Leu33Phe)
n.861C>T
 ClinVar dbSNP gnomAD v4
11g.94476383G>CCA382376982MRE11c.565C>G (p.Leu189Val)
c.574C>G (p.Leu192Val)
c.97C>G (p.Leu33Val)
n.861C>G
11g.94476383G=CA1992433350MRE11c.565C= (p.Leu189=)
c.574C= (p.Leu192=)
c.97C= (p.Leu33=)
n.861C=
11g.94476383G>TCA382376983MRE11c.565C>A (p.Leu189Ile)
c.574C>A (p.Leu192Ile)
c.97C>A (p.Leu33Ile)
n.861C>A
 gnomAD v4
11g.94476384C>ACA6235357MRE11c.564G>T (p.Arg188Ser)
c.573G>T (p.Arg191Ser)
c.96G>T (p.Arg32Ser)
n.860G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.94476384C=CA1992433358MRE11c.564G= (p.Arg188=)
c.573G= (p.Arg191=)
c.96G= (p.Arg32=)
n.860G=
11g.94476384C>GCA10579406MRE11c.564G>C (p.Arg188Ser)
c.573G>C (p.Arg191Ser)
c.96G>C (p.Arg32Ser)
n.860G>C
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.94476384C>TCA6235356MRE11c.564G>A (p.Arg188=)
c.573G>A (p.Arg191=)
c.96G>A (p.Arg32=)
n.860G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.94476385C>ACA382376987MRE11c.563G>T (p.Arg188Met)
c.572G>T (p.Arg191Met)
c.95G>T (p.Arg32Met)
n.859G>T
11g.94476385C=CA1992433365MRE11c.563G= (p.Arg188=)
c.572G= (p.Arg191=)
c.95G= (p.Arg32=)
n.859G=
11g.94476385C>GCA382376989MRE11c.563G>C (p.Arg188Thr)
c.572G>C (p.Arg191Thr)
c.95G>C (p.Arg32Thr)
n.859G>C
11g.94476385C>TCA382376991MRE11c.563G>A (p.Arg188Lys)
c.572G>A (p.Arg191Lys)
c.95G>A (p.Arg32Lys)
n.859G>A
 ClinVar dbSNP
11g.94476386T>ACA382376993MRE11c.562A>T (p.Arg188Trp)
c.571A>T (p.Arg191Trp)
c.94A>T (p.Arg32Trp)
n.858A>T
11g.94476386T>CCA382376995MRE11c.562A>G (p.Arg188Gly)
c.571A>G (p.Arg191Gly)
c.94A>G (p.Arg32Gly)
n.858A>G
 ClinVar dbSNP
11g.94476386T>GCA476286790MRE11c.562A>C (p.Arg188=)
c.571A>C (p.Arg191=)
c.94A>C (p.Arg32=)
n.858A>C
 ClinVar
11g.94476386T=CA1992433367MRE11c.562A= (p.Arg188=)
c.571A= (p.Arg191=)
c.94A= (p.Arg32=)
n.858A=

Number of alleles fetched