Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.94478767_94478775delinsTTTTGAAGCCA1992436600MRE11c.504_512delinsGCTTCAAAA (p.Leu168=)
c.513_521delinsGCTTCAAAA (p.Leu171=)
n.580_588delinsGCTTCAAAA
c.36_44delinsGCTTCAAAA (p.Leu12=)
n.800_808delinsGCTTCAAAA
11g.94478768_94478775delCA192198MRE11c.504_511del (p.Leu169ArgfsTer16)
c.513_520del (p.Leu172ArgfsTer16)
n.580_587del
c.36_43del (p.Leu13ArgfsTer16)
n.800_807del
 ClinVar dbSNP gnomAD v4
11g.94478771G>ACA166507MRE11c.508C>T (p.Gln170Ter)
c.517C>T (p.Gln173Ter)
n.584C>T
c.40C>T (p.Gln14Ter)
n.804C>T
 ClinVar dbSNP
11g.94478771G>CCA382377364MRE11c.508C>G (p.Gln170Glu)
c.517C>G (p.Gln173Glu)
n.584C>G
c.40C>G (p.Gln14Glu)
n.804C>G
11g.94478771G=CA1992436631MRE11c.508C= (p.Gln170=)
c.517C= (p.Gln173=)
n.584C=
c.40C= (p.Gln14=)
n.804C=
11g.94478771G>TCA6235382MRE11c.508C>A (p.Gln170Lys)
c.517C>A (p.Gln173Lys)
n.584C>A
c.40C>A (p.Gln14Lys)
n.804C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.94478772A>CCA476286858MRE11c.507T>G (p.Leu169=)
c.516T>G (p.Leu172=)
n.583T>G
c.39T>G (p.Leu13=)
n.803T>G
11g.94478772A>GCA476286859MRE11c.507T>C (p.Leu169=)
c.516T>C (p.Leu172=)
n.583T>C
c.39T>C (p.Leu13=)
n.803T>C
11g.94478772A>TCA476286860MRE11c.507T>A (p.Leu169=)
c.516T>A (p.Leu172=)
n.583T>A
c.39T>A (p.Leu13=)
n.803T>A
11g.94478773A>CCA382377368MRE11c.506T>G (p.Leu169Arg)
c.515T>G (p.Leu172Arg)
n.582T>G
c.38T>G (p.Leu13Arg)
n.802T>G
11g.94478773A>GCA382377370MRE11c.506T>C (p.Leu169Pro)
c.515T>C (p.Leu172Pro)
n.582T>C
c.38T>C (p.Leu13Pro)
n.802T>C
11g.94478773A>TCA382377371MRE11c.506T>A (p.Leu169His)
c.515T>A (p.Leu172His)
n.582T>A
c.38T>A (p.Leu13His)
n.802T>A
11g.94478774G>ACA382377372MRE11c.505C>T (p.Leu169Phe)
c.514C>T (p.Leu172Phe)
n.581C>T
c.37C>T (p.Leu13Phe)
n.801C>T
11g.94478774G>CCA382377373MRE11c.505C>G (p.Leu169Val)
c.514C>G (p.Leu172Val)
n.581C>G
c.37C>G (p.Leu13Val)
n.801C>G
11g.94478774G>TCA382377376MRE11c.505C>A (p.Leu169Ile)
c.514C>A (p.Leu172Ile)
n.581C>A
c.37C>A (p.Leu13Ile)
n.801C>A
11g.94478775C>ACA382377378MRE11c.504G>T (p.Leu168Phe)
c.513G>T (p.Leu171Phe)
n.580G>T
c.36G>T (p.Leu12Phe)
n.800G>T
11g.94478775C=CA1992436638MRE11c.504G= (p.Leu168=)
c.513G= (p.Leu171=)
n.580G=
c.36G= (p.Leu12=)
n.800G=
11g.94478775C>GCA6235383MRE11c.504G>C (p.Leu168Phe)
c.513G>C (p.Leu171Phe)
n.580G>C
c.36G>C (p.Leu12Phe)
n.800G>C
 dbSNP ExAC gnomAD v2
11g.94478775C>TCA476286861MRE11c.504G>A (p.Leu168=)
c.513G>A (p.Leu171=)
n.580G>A
c.36G>A (p.Leu12=)
n.800G>A
 ClinVar gnomAD v4
11g.94478776A>CCA382377386MRE11c.503T>G (p.Leu168Trp)
c.512T>G (p.Leu171Trp)
n.579T>G
c.35T>G (p.Leu12Trp)
n.799T>G
11g.94478776A>GCA382377384MRE11c.503T>C (p.Leu168Ser)
c.512T>C (p.Leu171Ser)
n.579T>C
c.35T>C (p.Leu12Ser)
n.799T>C
 ClinVar
11g.94478776A>TCA382377382MRE11c.503T>A (p.Leu168Ter)
c.512T>A (p.Leu171Ter)
n.579T>A
c.35T>A (p.Leu12Ter)
n.799T>A
11g.94478777A>CCA382377388MRE11c.502T>G (p.Leu168Val)
c.511T>G (p.Leu171Val)
n.578T>G
c.34T>G (p.Leu12Val)
n.798T>G
11g.94478777A>GCA476286862MRE11c.502T>C (p.Leu168=)
c.511T>C (p.Leu171=)
n.578T>C
c.34T>C (p.Leu12=)
n.798T>C
11g.94478777A>TCA382377390MRE11c.502T>A (p.Leu168Met)
c.511T>A (p.Leu171Met)
n.578T>A
c.34T>A (p.Leu12Met)
n.798T>A
11g.94478778A>CCA476286863MRE11c.501T>G (p.Val167=)
c.510T>G (p.Val170=)
n.577T>G
c.33T>G (p.Val11=)
n.797T>G
11g.94478778A>GCA476286864MRE11c.501T>C (p.Val167=)
c.510T>C (p.Val170=)
n.577T>C
c.33T>C (p.Val11=)
n.797T>C
11g.94478778A>TCA476286865MRE11c.501T>A (p.Val167=)
c.510T>A (p.Val170=)
n.577T>A
c.33T>A (p.Val11=)
n.797T>A
11g.94478779A>CCA382377392MRE11c.500T>G (p.Val167Gly)
c.509T>G (p.Val170Gly)
n.576T>G
c.32T>G (p.Val11Gly)
n.796T>G
11g.94478779A>GCA382377393MRE11c.500T>C (p.Val167Ala)
c.509T>C (p.Val170Ala)
n.576T>C
c.32T>C (p.Val11Ala)
n.796T>C
11g.94478779A>TCA382377395MRE11c.500T>A (p.Val167Asp)
c.509T>A (p.Val170Asp)
n.576T>A
c.32T>A (p.Val11Asp)
n.796T>A
11g.94478780C>ACA382377398MRE11c.499G>T (p.Val167Phe)
c.508G>T (p.Val170Phe)
n.575G>T
c.31G>T (p.Val11Phe)
n.795G>T
 dbSNP gnomAD v3 gnomAD v4
11g.94478780C=CA1992436643MRE11c.499G= (p.Val167=)
c.508G= (p.Val170=)
n.575G=
c.31G= (p.Val11=)
n.795G=
11g.94478780C>GCA382377399MRE11c.499G>C (p.Val167Leu)
c.508G>C (p.Val170Leu)
n.575G>C
c.31G>C (p.Val11Leu)
n.795G>C
11g.94478780C>TCA382377401MRE11c.499G>A (p.Val167Ile)
c.508G>A (p.Val170Ile)
n.575G>A
c.31G>A (p.Val11Ile)
n.795G>A
 dbSNP gnomAD v2 gnomAD v4
11g.94478781C>ACA476286866MRE11c.498G>T (p.Pro166=)
c.507G>T (p.Pro169=)
n.574G>T
c.30G>T (p.Pro10=)
n.794G>T
 ClinVar dbSNP
11g.94478781C=CA1992436657MRE11c.498G= (p.Pro166=)
c.507G= (p.Pro169=)
n.574G=
c.30G= (p.Pro10=)
n.794G=
11g.94478781C>GCA476286867MRE11c.498G>C (p.Pro166=)
c.507G>C (p.Pro169=)
n.574G>C
c.30G>C (p.Pro10=)
n.794G>C
 dbSNP
11g.94478781C>TCA348977MRE11c.498G>A (p.Pro166=)
c.507G>A (p.Pro169=)
n.574G>A
c.30G>A (p.Pro10=)
n.794G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.94478782G>ACA167765MRE11c.497C>T (p.Pro166Leu)
c.506C>T (p.Pro169Leu)
n.573C>T
c.29C>T (p.Pro10Leu)
n.793C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.94478782G>CCA382377406MRE11c.497C>G (p.Pro166Arg)
c.506C>G (p.Pro169Arg)
n.573C>G
c.29C>G (p.Pro10Arg)
n.793C>G
11g.94478782G=CA1992436673MRE11c.497C= (p.Pro166=)
c.506C= (p.Pro169=)
n.573C=
c.29C= (p.Pro10=)
n.793C=
11g.94478782G>TCA382377408MRE11c.497C>A (p.Pro166Gln)
c.506C>A (p.Pro169Gln)
n.573C>A
c.29C>A (p.Pro10Gln)
n.793C>A
 gnomAD v4
11g.94478783G>ACA382377413MRE11c.496C>T (p.Pro166Ser)
c.505C>T (p.Pro169Ser)
n.572C>T
c.28C>T (p.Pro10Ser)
n.792C>T
 ClinVar
11g.94478783G>CCA169549MRE11c.496C>G (p.Pro166Ala)
c.505C>G (p.Pro169Ala)
n.572C>G
c.28C>G (p.Pro10Ala)
n.792C>G
 ClinVar dbSNP
11g.94478783G=CA1992436679MRE11c.496C= (p.Pro166=)
c.505C= (p.Pro169=)
n.572C=
c.28C= (p.Pro10=)
n.792C=
11g.94478783G>TCA382377411MRE11c.496C>A (p.Pro166Thr)
c.505C>A (p.Pro169Thr)
n.572C>A
c.28C>A (p.Pro10Thr)
n.792C>A
11g.94478784_94478790dupCA2697548883MRE11c.490_496dup (p.Pro166HisfsTer2)
c.499_505dup (p.Pro169HisfsTer2)
n.566_572dup
c.22_28dup (p.Pro10HisfsTer2)
n.786_792dup
 ClinVar
11g.94478784A>CCA382377416MRE11c.495T>G (p.Ser165Arg)
c.504T>G (p.Ser168Arg)
n.571T>G
c.27T>G (p.Ser9Arg)
n.791T>G
11g.94478784A>GCA476286868MRE11c.495T>C (p.Ser165=)
c.504T>C (p.Ser168=)
n.571T>C
c.27T>C (p.Ser9=)
n.791T>C
 ClinVar gnomAD v4
11g.94478784A>TCA382377418MRE11c.495T>A (p.Ser165Arg)
c.504T>A (p.Ser168Arg)
n.571T>A
c.27T>A (p.Ser9Arg)
n.791T>A
11g.94478785C>ACA382377420MRE11c.494G>T (p.Ser165Ile)
c.503G>T (p.Ser168Ile)
n.570G>T
c.26G>T (p.Ser9Ile)
n.790G>T
 dbSNP
11g.94478785C>GCA382377422MRE11c.494G>C (p.Ser165Thr)
c.503G>C (p.Ser168Thr)
n.570G>C
c.26G>C (p.Ser9Thr)
n.790G>C
11g.94478785C>TCA382377424MRE11c.494G>A (p.Ser165Asn)
c.503G>A (p.Ser168Asn)
n.570G>A
c.26G>A (p.Ser9Asn)
n.790G>A
 ClinVar
11g.94478786T>ACA382377426MRE11c.493A>T (p.Ser165Cys)
c.502A>T (p.Ser168Cys)
n.569A>T
c.25A>T (p.Ser9Cys)
n.789A>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.94478786T>CCA382377428MRE11c.493A>G (p.Ser165Gly)
c.502A>G (p.Ser168Gly)
n.569A>G
c.25A>G (p.Ser9Gly)
n.789A>G
11g.94478786T>GCA6235384MRE11c.493A>C (p.Ser165Arg)
c.502A>C (p.Ser168Arg)
n.569A>C
c.25A>C (p.Ser9Arg)
n.789A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.94478786T=CA1992436690MRE11c.493A= (p.Ser165=)
c.502A= (p.Ser168=)
n.569A=
c.25A= (p.Ser9=)
n.789A=
11g.94478787A=CA1992436695MRE11c.492T= (p.Ile164=)
c.501T= (p.Ile167=)
n.568T=
c.24T= (p.Ile8=)
n.788T=
11g.94478787A>CCA382377431MRE11c.492T>G (p.Ile164Met)
c.501T>G (p.Ile167Met)
n.568T>G
c.24T>G (p.Ile8Met)
n.788T>G
11g.94478787A>GCA197025MRE11c.492T>C (p.Ile164=)
c.501T>C (p.Ile167=)
n.568T>C
c.24T>C (p.Ile8=)
n.788T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.94478787A>TCA476286869MRE11c.492T>A (p.Ile164=)
c.501T>A (p.Ile167=)
n.568T>A
c.24T>A (p.Ile8=)
n.788T>A
11g.94478788A=CA1992436698MRE11c.491T= (p.Ile164=)
c.500T= (p.Ile167=)
n.567T=
c.23T= (p.Ile8=)
n.787T=
11g.94478788A>CCA382377435MRE11c.491T>G (p.Ile164Ser)
c.500T>G (p.Ile167Ser)
n.567T>G
c.23T>G (p.Ile8Ser)
n.787T>G
 dbSNP gnomAD v4
11g.94478788A>GCA382377436MRE11c.491T>C (p.Ile164Thr)
c.500T>C (p.Ile167Thr)
n.567T>C
c.23T>C (p.Ile8Thr)
n.787T>C
11g.94478788A>TCA382377438MRE11c.491T>A (p.Ile164Asn)
c.500T>A (p.Ile167Asn)
n.567T>A
c.23T>A (p.Ile8Asn)
n.787T>A
11g.94478789T>ACA382377443MRE11c.490A>T (p.Ile164Phe)
c.499A>T (p.Ile167Phe)
n.566A>T
c.22A>T (p.Ile8Phe)
n.786A>T
11g.94478789T>CCA6235385MRE11c.490A>G (p.Ile164Val)
c.499A>G (p.Ile167Val)
n.566A>G
c.22A>G (p.Ile8Val)
n.786A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.94478789T>GCA382377441MRE11c.490A>C (p.Ile164Leu)
c.499A>C (p.Ile167Leu)
n.566A>C
c.22A>C (p.Ile8Leu)
n.786A>C
11g.94478789T=CA1992436701MRE11c.490A= (p.Ile164=)
c.499A= (p.Ile167=)
n.566A=
c.22A= (p.Ile8=)
n.786A=
11g.94478790_94478791delCA2615590112MRE11c.489_490del (p.Ile164Ter)
c.498_499del (p.Ile167Ter)
n.565_566del
c.21_22del (p.Ile8Ter)
n.785_786del
 ClinVar gnomAD v4
11g.94478790G>ACA6235386MRE11c.489C>T (p.Asp163=)
c.498C>T (p.Asp166=)
n.565C>T
c.21C>T (p.Asp7=)
n.785C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.94478790G>CCA382377446MRE11c.489C>G (p.Asp163Glu)
c.498C>G (p.Asp166Glu)
n.565C>G
c.21C>G (p.Asp7Glu)
n.785C>G
11g.94478790G=CA1992436715MRE11c.489C= (p.Asp163=)
c.498C= (p.Asp166=)
n.565C=
c.21C= (p.Asp7=)
n.785C=
11g.94478790G>TCA382377448MRE11c.489C>A (p.Asp163Glu)
c.498C>A (p.Asp166Glu)
n.565C>A
c.21C>A (p.Asp7Glu)
n.785C>A
 dbSNP gnomAD v3 gnomAD v4
11g.94478791T>ACA382377451MRE11c.488A>T (p.Asp163Val)
c.497A>T (p.Asp166Val)
n.564A>T
c.20A>T (p.Asp7Val)
n.784A>T
11g.94478791T>CCA382377452MRE11c.488A>G (p.Asp163Gly)
c.497A>G (p.Asp166Gly)
n.564A>G
c.20A>G (p.Asp7Gly)
n.784A>G
 gnomAD v4
11g.94478791T>GCA16613513MRE11c.488A>C (p.Asp163Ala)
c.497A>C (p.Asp166Ala)
n.564A>C
c.20A>C (p.Asp7Ala)
n.784A>C
 ClinVar dbSNP gnomAD v4
11g.94478791T=CA1992436730MRE11c.488A= (p.Asp163=)
c.497A= (p.Asp166=)
n.564A=
c.20A= (p.Asp7=)
n.784A=
11g.94478792C>ACA382377455MRE11c.487G>T (p.Asp163Tyr)
c.496G>T (p.Asp166Tyr)
n.563G>T
c.19G>T (p.Asp7Tyr)
n.783G>T
11g.94478792C>GCA382377457MRE11c.487G>C (p.Asp163His)
c.496G>C (p.Asp166His)
n.563G>C
c.19G>C (p.Asp7His)
n.783G>C
11g.94478792C>TCA382377458MRE11c.487G>A (p.Asp163Asn)
c.496G>A (p.Asp166Asn)
n.563G>A
c.19G>A (p.Asp7Asn)
n.783G>A
11g.94478793T>ACA476286870MRE11c.486A>T (p.Ile162=)
c.495A>T (p.Ile165=)
n.562A>T
c.18A>T (p.Ile6=)
n.782A>T
11g.94478793T>CCA382377459MRE11c.486A>G (p.Ile162Met)
c.495A>G (p.Ile165Met)
n.562A>G
c.18A>G (p.Ile6Met)
n.782A>G
 ClinVar
11g.94478793T>GCA476286871MRE11c.486A>C (p.Ile162=)
c.495A>C (p.Ile165=)
n.562A>C
c.18A>C (p.Ile6=)
n.782A>C
11g.94478794A=CA1992436741MRE11c.485T= (p.Ile162=)
c.494T= (p.Ile165=)
n.561T=
c.17T= (p.Ile6=)
n.781T=
11g.94478794A>CCA382377462MRE11c.485T>G (p.Ile162Arg)
c.494T>G (p.Ile165Arg)
n.561T>G
c.17T>G (p.Ile6Arg)
n.781T>G
11g.94478794A>GCA197993MRE11c.485T>C (p.Ile162Thr)
c.494T>C (p.Ile165Thr)
n.561T>C
c.17T>C (p.Ile6Thr)
n.781T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.94478794A>TCA382377465MRE11c.485T>A (p.Ile162Lys)
c.494T>A (p.Ile165Lys)
n.561T>A
c.17T>A (p.Ile6Lys)
n.781T>A
11g.94478795T>ACA382377467MRE11c.484A>T (p.Ile162Leu)
c.493A>T (p.Ile165Leu)
n.560A>T
c.16A>T (p.Ile6Leu)
n.780A>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.94478795T>CCA382377471MRE11c.484A>G (p.Ile162Val)
c.493A>G (p.Ile165Val)
n.560A>G
c.16A>G (p.Ile6Val)
n.780A>G
11g.94478795T>GCA382377469MRE11c.484A>C (p.Ile162Leu)
c.493A>C (p.Ile165Leu)
n.560A>C
c.16A>C (p.Ile6Leu)
n.780A>C
11g.94478795T=CA1992436765MRE11c.484A= (p.Ile162=)
c.493A= (p.Ile165=)
n.560A=
c.16A= (p.Ile6=)
n.780A=
11g.94478796C>ACA382377473MRE11c.483G>T (p.Lys161Asn)
c.492G>T (p.Lys164Asn)
n.559G>T
c.15G>T (p.Lys5Asn)
n.779G>T
 gnomAD v4
11g.94478796C>GCA382377475MRE11c.483G>C (p.Lys161Asn)
c.492G>C (p.Lys164Asn)
n.559G>C
c.15G>C (p.Lys5Asn)
n.779G>C
11g.94478796C>TCA476286872MRE11c.483G>A (p.Lys161=)
c.492G>A (p.Lys164=)
n.559G>A
c.15G>A (p.Lys5=)
n.779G>A
11g.94478797T>ACA382377478MRE11c.482A>T (p.Lys161Met)
c.491A>T (p.Lys164Met)
n.558A>T
c.14A>T (p.Lys5Met)
n.778A>T
11g.94478797T>CCA294309MRE11c.482A>G (p.Lys161Arg)
c.491A>G (p.Lys164Arg)
n.558A>G
c.14A>G (p.Lys5Arg)
n.778A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.94478797T>GCA382377480MRE11c.482A>C (p.Lys161Thr)
c.491A>C (p.Lys164Thr)
n.558A>C
c.14A>C (p.Lys5Thr)
n.778A>C
11g.94478797T=CA1992436780MRE11c.482A= (p.Lys161=)
c.491A= (p.Lys164=)
n.558A=
c.14A= (p.Lys5=)
n.778A=
11g.94478798T>ACA382377482MRE11c.481A>T (p.Lys161Ter)
c.490A>T (p.Lys164Ter)
n.557A>T
c.13A>T (p.Lys5Ter)
n.777A>T
11g.94478798T>CCA382377486MRE11c.481A>G (p.Lys161Glu)
c.490A>G (p.Lys164Glu)
n.557A>G
c.13A>G (p.Lys5Glu)
n.777A>G
 ClinVar
11g.94478798T>GCA382377484MRE11c.481A>C (p.Lys161Gln)
c.490A>C (p.Lys164Gln)
n.557A>C
c.13A>C (p.Lys5Gln)
n.777A>C
11g.94478799C>ACA382377488MRE11c.480G>T (p.Glu160Asp)
c.489G>T (p.Glu163Asp)
n.556G>T
c.12G>T (p.Glu4Asp)
n.776G>T
 ClinVar
11g.94478799C>GCA382377490MRE11c.480G>C (p.Glu160Asp)
c.489G>C (p.Glu163Asp)
n.556G>C
c.12G>C (p.Glu4Asp)
n.776G>C
11g.94478799C>TCA476286873MRE11c.480G>A (p.Glu160=)
c.489G>A (p.Glu163=)
n.556G>A
c.12G>A (p.Glu4=)
n.776G>A
11g.94478800T>ACA382377492MRE11c.479A>T (p.Glu160Val)
c.488A>T (p.Glu163Val)
n.555A>T
c.11A>T (p.Glu4Val)
n.775A>T
11g.94478800T>CCA382377494MRE11c.479A>G (p.Glu160Gly)
c.488A>G (p.Glu163Gly)
n.555A>G
c.11A>G (p.Glu4Gly)
n.775A>G
11g.94478800T>GCA382377496MRE11c.479A>C (p.Glu160Ala)
c.488A>C (p.Glu163Ala)
n.555A>C
c.11A>C (p.Glu4Ala)
n.775A>C
11g.94478801C>ACA382377498MRE11c.478G>T (p.Glu160Ter)
c.487G>T (p.Glu163Ter)
n.554G>T
c.10G>T (p.Glu4Ter)
n.774G>T
 dbSNP
11g.94478801C>GCA382377500MRE11c.478G>C (p.Glu160Gln)
c.487G>C (p.Glu163Gln)
n.554G>C
c.10G>C (p.Glu4Gln)
n.774G>C
11g.94478801C>TCA382377502MRE11c.478G>A (p.Glu160Lys)
c.487G>A (p.Glu163Lys)
n.554G>A
c.10G>A (p.Glu4Lys)
n.774G>A
 ClinVar
11g.94478802C>ACA476286874MRE11c.477G>T (p.Val159=)
c.486G>T (p.Val162=)
n.553G>T
c.9G>T (p.Val3=)
n.773G>T
11g.94478802C>GCA476286875MRE11c.477G>C (p.Val159=)
c.486G>C (p.Val162=)
n.553G>C
c.9G>C (p.Val3=)
n.773G>C
11g.94478802C>TCA476286876MRE11c.477G>A (p.Val159=)
c.486G>A (p.Val162=)
n.553G>A
c.9G>A (p.Val3=)
n.773G>A
11g.94478803A=CA1992436807MRE11c.476T= (p.Val159=)
c.485T= (p.Val162=)
n.552T=
c.8T= (p.Val3=)
n.772T=
11g.94478803A>CCA382377505MRE11c.476T>G (p.Val159Gly)
c.485T>G (p.Val162Gly)
n.552T>G
c.8T>G (p.Val3Gly)
n.772T>G
11g.94478803A>GCA339288MRE11c.476T>C (p.Val159Ala)
c.485T>C (p.Val162Ala)
n.552T>C
c.8T>C (p.Val3Ala)
n.772T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.94478803A>TCA382377508MRE11c.476T>A (p.Val159Glu)
c.485T>A (p.Val162Glu)
n.552T>A
c.8T>A (p.Val3Glu)
n.772T>A
11g.94478806_94478809delCA2793218255MRE11c.473_476del (p.Ser158TrpfsTer4)
c.482_485del (p.Ser161TrpfsTer4)
n.549_552del
c.5_8del (p.Ser2TrpfsTer4)
n.769_772del
11g.94478804C>ACA382377513MRE11c.475G>T (p.Val159Leu)
c.484G>T (p.Val162Leu)
n.551G>T
c.7G>T (p.Val3Leu)
n.771G>T
11g.94478804C=CA1992436828MRE11c.475G= (p.Val159=)
c.484G= (p.Val162=)
n.551G=
c.7G= (p.Val3=)
n.771G=
11g.94478804C>GCA382377511MRE11c.475G>C (p.Val159Leu)
c.484G>C (p.Val162Leu)
n.551G>C
c.7G>C (p.Val3Leu)
n.771G>C
11g.94478804C>TCA349075MRE11c.475G>A (p.Val159Met)
c.484G>A (p.Val162Met)
n.551G>A
c.7G>A (p.Val3Met)
n.771G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.94478805A=CA1992436839MRE11c.474T= (p.Ser158=)
c.483T= (p.Ser161=)
n.550T=
c.6T= (p.Ser2=)
n.770T=
11g.94478805A>CCA476286877MRE11c.474T>G (p.Ser158=)
c.483T>G (p.Ser161=)
n.550T>G
c.6T>G (p.Ser2=)
n.770T>G
11g.94478805A>GCA476286878MRE11c.474T>C (p.Ser158=)
c.483T>C (p.Ser161=)
n.550T>C
c.6T>C (p.Ser2=)
n.770T>C
 ClinVar dbSNP gnomAD v4
11g.94478805A>TCA476286879MRE11c.474T>A (p.Ser158=)
c.483T>A (p.Ser161=)
n.550T>A
c.6T>A (p.Ser2=)
n.770T>A
11g.94478806G>ACA382377515MRE11c.473C>T (p.Ser158Phe)
c.482C>T (p.Ser161Phe)
n.549C>T
c.5C>T (p.Ser2Phe)
n.769C>T
 dbSNP
11g.94478806G>CCA382377517MRE11c.473C>G (p.Ser158Cys)
c.482C>G (p.Ser161Cys)
n.549C>G
c.5C>G (p.Ser2Cys)
n.769C>G
11g.94478806G=CA1992436844MRE11c.473C= (p.Ser158=)
c.482C= (p.Ser161=)
n.549C=
c.5C= (p.Ser2=)
n.769C=
11g.94478806G>TCA382377519MRE11c.473C>A (p.Ser158Tyr)
c.482C>A (p.Ser161Tyr)
n.549C>A
c.5C>A (p.Ser2Tyr)
n.769C>A
 ClinVar dbSNP gnomAD v4
11g.94478807A=CA1992436851MRE11c.472T= (p.Ser158=)
c.481T= (p.Ser161=)
n.548T=
c.4T= (p.Ser2=)
n.768T=
11g.94478807A>CCA382377521MRE11c.472T>G (p.Ser158Ala)
c.481T>G (p.Ser161Ala)
n.548T>G
c.4T>G (p.Ser2Ala)
n.768T>G
11g.94478807A>GCA382377525MRE11c.472T>C (p.Ser158Pro)
c.481T>C (p.Ser161Pro)
n.548T>C
c.4T>C (p.Ser2Pro)
n.768T>C
11g.94478807A>TCA226537398MRE11c.472T>A (p.Ser158Thr)
c.481T>A (p.Ser161Thr)
n.548T>A
c.4T>A (p.Ser2Thr)
n.768T>A
 dbSNP gnomAD v3 gnomAD v4
11g.94478808C>ACA382377529MRE11c.471G>T (p.Met157Ile)
c.480G>T (p.Met160Ile)
n.547G>T
c.3G>T (p.Met1Ile)
n.767G>T
 dbSNP
11g.94478808C=CA1992436857MRE11c.471G= (p.Met157=)
c.480G= (p.Met160=)
n.547G=
c.3G= (p.Met1=)
n.767G=
11g.94478808C>GCA382377531MRE11c.471G>C (p.Met157Ile)
c.480G>C (p.Met160Ile)
n.547G>C
c.3G>C (p.Met1Ile)
n.767G>C
11g.94478808C>TCA168181MRE11c.471G>A (p.Met157Ile)
c.480G>A (p.Met160Ile)
n.547G>A
c.3G>A (p.Met1Ile)
n.767G>A
 ClinVar dbSNP
11g.94478809A=CA1992436865MRE11c.470T= (p.Met157=)
c.479T= (p.Met160=)
n.546T=
c.2T= (p.Met1=)
n.766T=
11g.94478809A>CCA382377534MRE11c.470T>G (p.Met157Arg)
c.479T>G (p.Met160Arg)
n.546T>G
c.2T>G (p.Met1Arg)
n.766T>G
11g.94478809A>GCA382377536MRE11c.470T>C (p.Met157Thr)
c.479T>C (p.Met160Thr)
n.546T>C
c.2T>C (p.Met1Thr)
n.766T>C
 ClinVar dbSNP
11g.94478809A>TCA382377539MRE11c.470T>A (p.Met157Lys)
c.479T>A (p.Met160Lys)
n.546T>A
c.2T>A (p.Met1Lys)
n.766T>A
11g.94478810T>ACA382377544MRE11c.469A>T (p.Met157Leu)
c.478A>T (p.Met160Leu)
n.545A>T
c.1A>T (p.Met1Leu)
n.765A>T
 ClinVar
11g.94478810T>CCA333266MRE11c.469A>G (p.Met157Val)
c.478A>G (p.Met160Val)
n.545A>G
c.1A>G (p.Met1Val)
n.765A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.94478810T>GCA382377541MRE11c.469A>C (p.Met157Leu)
c.478A>C (p.Met160Leu)
n.545A>C
c.1A>C (p.Met1Leu)
n.765A>C
11g.94478810T=CA1992436879MRE11c.469A= (p.Met157=)
c.478A= (p.Met160=)
n.545A=
c.1A= (p.Met1=)
n.765A=
11g.94478811T>ACA476286880MRE11c.468A>T (p.Ser156=)
c.477A>T (p.Ser159=)
n.544A>T
c.-1A>T (n.-1A>T)
n.764A>T
11g.94478811T>CCA476286881MRE11c.468A>G (p.Ser156=)
c.477A>G (p.Ser159=)
n.544A>G
c.-1A>G (n.-1A>G)
n.764A>G
11g.94478811T>GCA476286882MRE11c.468A>C (p.Ser156=)
c.477A>C (p.Ser159=)
n.544A>C
c.-1A>C (n.-1A>C)
n.764A>C
11g.94478812G>ACA382377548MRE11c.467C>T (p.Ser156Leu)
c.476C>T (p.Ser159Leu)
n.543C>T
c.-2C>T (n.-2C>T)
n.763C>T
 dbSNP
11g.94478812G>CCA382377545MRE11c.467C>G (p.Ser156Ter)
c.476C>G (p.Ser159Ter)
n.543C>G
c.-2C>G (n.-2C>G)
n.763C>G
11g.94478812G>TCA382377547MRE11c.467C>A (p.Ser156Ter)
c.476C>A (p.Ser159Ter)
n.543C>A
c.-2C>A (n.-2C>A)
n.763C>A
11g.94478813A>CCA382377550MRE11c.466T>G (p.Ser156Ala)
c.475T>G (p.Ser159Ala)
n.542T>G
c.-3T>G (n.-3T>G)
n.762T>G
11g.94478813A>GCA382377551MRE11c.466T>C (p.Ser156Pro)
c.475T>C (p.Ser159Pro)
n.542T>C
c.-3T>C (n.-3T>C)
n.762T>C
 gnomAD v4 COSMIC COSMIC
11g.94478813A>TCA382377552MRE11c.466T>A (p.Ser156Thr)
c.475T>A (p.Ser159Thr)
n.542T>A
c.-3T>A (n.-3T>A)
n.762T>A
11g.94478814A>CCA476286883MRE11c.465T>G (p.Arg155=)
c.474T>G (p.Arg158=)
n.541T>G
c.-4T>G (n.-4T>G)
n.761T>G
11g.94478814A>GCA476286884MRE11c.465T>C (p.Arg155=)
c.474T>C (p.Arg158=)
n.541T>C
c.-4T>C (n.-4T>C)
n.761T>C
 ClinVar gnomAD v4
11g.94478814A>TCA476286885MRE11c.465T>A (p.Arg155=)
c.474T>A (p.Arg158=)
n.541T>A
c.-4T>A (n.-4T>A)
n.761T>A
11g.94478815C>ACA382377554MRE11c.464G>T (p.Arg155Leu)
c.473G>T (p.Arg158Leu)
n.540G>T
c.-5G>T (n.-5G>T)
n.760G>T
 ClinVar dbSNP
11g.94478815C=CA1992436887MRE11c.464G= (p.Arg155=)
c.473G= (p.Arg158=)
n.540G=
c.-5G= (n.-5G=)
n.760G=
11g.94478815C>GCA382377557MRE11c.464G>C (p.Arg155Pro)
c.473G>C (p.Arg158Pro)
n.540G>C
c.-5G>C (n.-5G>C)
n.760G>C
11g.94478815C>TCA331843MRE11c.464G>A (p.Arg155His)
c.473G>A (p.Arg158His)
n.540G>A
c.-5G>A (n.-5G>A)
n.760G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.94478816G>ACA168558MRE11c.463C>T (p.Arg155Cys)
c.472C>T (p.Arg158Cys)
n.539C>T
c.-6C>T (n.-6C>T)
n.759C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.94478816G>CCA382377561MRE11c.463C>G (p.Arg155Gly)
c.472C>G (p.Arg158Gly)
n.539C>G
c.-6C>G (n.-6C>G)
n.759C>G
11g.94478816G=CA1992436907MRE11c.463C= (p.Arg155=)
c.472C= (p.Arg158=)
n.539C=
c.-6C= (n.-6C=)
n.759C=
11g.94478816G>TCA382377563MRE11c.463C>A (p.Arg155Ser)
c.472C>A (p.Arg158Ser)
n.539C>A
c.-6C>A (n.-6C>A)
n.759C>A
11g.94478817T>ACA476286887MRE11c.462A>T (p.Gly154=)
c.471A>T (p.Gly157=)
n.538A>T
c.-7A>T (n.-7A>T)
n.758A>T
11g.94478817T>CCA188032MRE11c.462A>G (p.Gly154=)
c.471A>G (p.Gly157=)
n.538A>G
c.-7A>G (n.-7A>G)
n.758A>G
 ClinVar dbSNP gnomAD v4
11g.94478817T>GCA476286886MRE11c.462A>C (p.Gly154=)
c.471A>C (p.Gly157=)
n.538A>C
c.-7A>C (n.-7A>C)
n.758A>C
 ClinVar
11g.94478817T=CA1992436916MRE11c.462A= (p.Gly154=)
c.471A= (p.Gly157=)
n.538A=
c.-7A= (n.-7A=)
n.758A=
11g.94478818C>ACA382377571MRE11c.461G>T (p.Gly154Val)
c.470G>T (p.Gly157Val)
n.537G>T
c.-8G>T (n.-8G>T)
n.757G>T
 ClinVar gnomAD v4
11g.94478818C>GCA382377569MRE11c.461G>C (p.Gly154Ala)
c.470G>C (p.Gly157Ala)
n.537G>C
c.-8G>C (n.-8G>C)
n.757G>C
 ClinVar
11g.94478818C>TCA382377567MRE11c.461G>A (p.Gly154Glu)
c.470G>A (p.Gly157Glu)
n.537G>A
c.-8G>A (n.-8G>A)
n.757G>A
 ClinVar
11g.94478819C>ACA382377573MRE11c.460G>T (p.Gly154Ter)
c.469G>T (p.Gly157Ter)
n.536G>T
c.-9G>T (n.-9G>T)
n.756G>T
11g.94478819C>GCA382377574MRE11c.460G>C (p.Gly154Arg)
c.469G>C (p.Gly157Arg)
n.536G>C
c.-9G>C (n.-9G>C)
n.756G>C
11g.94478819C>TCA382377576MRE11c.460G>A (p.Gly154Arg)
c.469G>A (p.Gly157Arg)
n.536G>A
c.-9G>A (n.-9G>A)
n.756G>A
 ClinVar dbSNP
11g.94478820A>CCA382377579MRE11c.459T>G (p.Phe153Leu)
c.468T>G (p.Phe156Leu)
n.535T>G
c.-10T>G (n.-10T>G)
n.755T>G
11g.94478820A>GCA476286888MRE11c.459T>C (p.Phe153=)
c.468T>C (p.Phe156=)
n.535T>C
c.-10T>C (n.-10T>C)
n.755T>C
11g.94478820A>TCA382377582MRE11c.459T>A (p.Phe153Leu)
c.468T>A (p.Phe156Leu)
n.535T>A
c.-10T>A (n.-10T>A)
n.755T>A
11g.94478821A>CCA382377584MRE11c.458T>G (p.Phe153Cys)
c.467T>G (p.Phe156Cys)
n.534T>G
c.-11T>G (n.-11T>G)
n.754T>G
11g.94478821A>GCA382377586MRE11c.458T>C (p.Phe153Ser)
c.467T>C (p.Phe156Ser)
n.534T>C
c.-11T>C (n.-11T>C)
n.754T>C
11g.94478821A>TCA382377588MRE11c.458T>A (p.Phe153Tyr)
c.467T>A (p.Phe156Tyr)
n.534T>A
c.-11T>A (n.-11T>A)
n.754T>A
11g.94478822A>CCA382377590MRE11c.457T>G (p.Phe153Val)
c.466T>G (p.Phe156Val)
n.533T>G
c.-12T>G (n.-12T>G)
n.753T>G
11g.94478822A>GCA382377593MRE11c.457T>C (p.Phe153Leu)
c.466T>C (p.Phe156Leu)
n.533T>C
c.-12T>C (n.-12T>C)
n.753T>C
11g.94478822A>TCA382377595MRE11c.457T>A (p.Phe153Ile)
c.466T>A (p.Phe156Ile)
n.533T>A
c.-12T>A (n.-12T>A)
n.753T>A
11g.94478823G>ACA476286889MRE11c.456C>T (p.His152=)
c.465C>T (p.His155=)
n.532C>T
c.-13C>T (n.-13C>T)
n.752C>T
 dbSNP gnomAD v4
11g.94478823G>CCA382377596MRE11c.456C>G (p.His152Gln)
c.465C>G (p.His155Gln)
n.532C>G
c.-13C>G (n.-13C>G)
n.752C>G
11g.94478823G=CA1992436921MRE11c.456C= (p.His152=)
c.465C= (p.His155=)
n.532C=
c.-13C= (n.-13C=)
n.752C=
11g.94478823G>TCA382377599MRE11c.456C>A (p.His152Gln)
c.465C>A (p.His155Gln)
n.532C>A
c.-13C>A (n.-13C>A)
n.752C>A
11g.94478824T>ACA382377602MRE11c.455A>T (p.His152Leu)
c.464A>T (p.His155Leu)
n.531A>T
c.-14A>T (n.-14A>T)
n.751A>T
 ClinVar gnomAD v4
11g.94478824T>CCA382377604MRE11c.455A>G (p.His152Arg)
c.464A>G (p.His155Arg)
n.531A>G
c.-14A>G (n.-14A>G)
n.751A>G
11g.94478824T>GCA6235387MRE11c.455A>C (p.His152Pro)
c.464A>C (p.His155Pro)
n.531A>C
c.-14A>C (n.-14A>C)
n.751A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.94478824T=CA1992436926MRE11c.455A= (p.His152=)
c.464A= (p.His155=)
n.531A=
c.-14A= (n.-14A=)
n.751A=
11g.94478825G>ACA10579407MRE11c.454C>T (p.His152Tyr)
c.463C>T (p.His155Tyr)
n.530C>T
c.-15C>T (n.-15C>T)
n.750C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.94478825G>CCA382377606MRE11c.454C>G (p.His152Asp)
c.463C>G (p.His155Asp)
n.530C>G
c.-15C>G (n.-15C>G)
n.750C>G
 ClinVar
11g.94478825G=CA1992436937MRE11c.454C= (p.His152=)
c.463C= (p.His155=)
n.530C=
c.-15C= (n.-15C=)
n.750C=
11g.94478825G>TCA382377608MRE11c.454C>A (p.His152Asn)
c.463C>A (p.His155Asn)
n.530C>A
c.-15C>A (n.-15C>A)
n.750C>A
11g.94478826A=CA1992436960MRE11c.453T= (p.Asn151=)
c.462T= (p.Asn154=)
n.529T=
c.-16T= (n.-16T=)
n.749T=
11g.94478826A>CCA382377609MRE11c.453T>G (p.Asn151Lys)
c.462T>G (p.Asn154Lys)
n.529T>G
c.-16T>G (n.-16T>G)
n.749T>G
11g.94478826A>GCA476286890MRE11c.453T>C (p.Asn151=)
c.462T>C (p.Asn154=)
n.529T>C
c.-16T>C (n.-16T>C)
n.749T>C
 dbSNP
11g.94478826A>TCA382377611MRE11c.453T>A (p.Asn151Lys)
c.462T>A (p.Asn154Lys)
n.529T>A
c.-16T>A (n.-16T>A)
n.749T>A
11g.94478827T>ACA382377618MRE11c.452A>T (p.Asn151Ile)
c.461A>T (p.Asn154Ile)
n.528A>T
c.-17A>T (n.-17A>T)
n.748A>T
11g.94478827T>CCA382377616MRE11c.452A>G (p.Asn151Ser)
c.461A>G (p.Asn154Ser)
n.528A>G
c.-17A>G (n.-17A>G)
n.748A>G
11g.94478827T>GCA382377614MRE11c.452A>C (p.Asn151Thr)
c.461A>C (p.Asn154Thr)
n.528A>C
c.-17A>C (n.-17A>C)
n.748A>C
11g.94478829delCA2615590183MRE11c.452del (p.Asn151IlefsTer12)
c.461del (p.Asn154IlefsTer12)
n.528del
c.-17del (n.-17del)
n.748del
 gnomAD v4
11g.94478828T>ACA382377620MRE11c.451A>T (p.Asn151Tyr)
c.460A>T (p.Asn154Tyr)
n.527A>T
c.-18A>T (n.-18A>T)
n.747A>T
11g.94478828T>CCA382377622MRE11c.451A>G (p.Asn151Asp)
c.460A>G (p.Asn154Asp)
n.527A>G
c.-18A>G (n.-18A>G)
n.747A>G
11g.94478828T>GCA382377625MRE11c.451A>C (p.Asn151His)
c.460A>C (p.Asn154His)
n.527A>C
c.-18A>C (n.-18A>C)
n.747A>C
11g.94478829T>ACA476286891MRE11c.450A>T (p.Val150=)
c.459A>T (p.Val153=)
n.526A>T
c.-19A>T (n.-19A>T)
n.746A>T
11g.94478829T>CCA476286892MRE11c.450A>G (p.Val150=)
c.459A>G (p.Val153=)
n.526A>G
c.-19A>G (n.-19A>G)
n.746A>G
11g.94478829T>GCA476286893MRE11c.450A>C (p.Val150=)
c.459A>C (p.Val153=)
n.526A>C
c.-19A>C (n.-19A>C)
n.746A>C
11g.94478830A=CA1992436977MRE11c.449T= (p.Val150=)
c.458T= (p.Val153=)
n.525T=
c.-20T= (n.-20T=)
n.745T=
11g.94478830A>CCA382377627MRE11c.449T>G (p.Val150Gly)
c.458T>G (p.Val153Gly)
n.525T>G
c.-20T>G (n.-20T>G)
n.745T>G
11g.94478830A>GCA382377629MRE11c.449T>C (p.Val150Ala)
c.458T>C (p.Val153Ala)
n.525T>C
c.-20T>C (n.-20T>C)
n.745T>C
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.94478830A>TCA382377631MRE11c.449T>A (p.Val150Glu)
c.458T>A (p.Val153Glu)
n.525T>A
c.-20T>A (n.-20T>A)
n.745T>A
11g.94478831C>ACA382377636MRE11c.448G>T (p.Val150Leu)
c.457G>T (p.Val153Leu)
n.524G>T
c.-21G>T (n.-21G>T)
n.744G>T
11g.94478831C>GCA382377633MRE11c.448G>C (p.Val150Leu)
c.457G>C (p.Val153Leu)
n.524G>C
c.-21G>C (n.-21G>C)
n.744G>C
11g.94478831C>TCA382377634MRE11c.448G>A (p.Val150Ile)
c.457G>A (p.Val153Ile)
n.524G>A
c.-21G>A (n.-21G>A)
n.744G>A
 gnomAD v4
11g.94478832A>CCA382377638MRE11c.447T>G (p.Phe149Leu)
c.456T>G (p.Phe152Leu)
n.523T>G
c.-22T>G (n.-22T>G)
n.743T>G
11g.94478832A>GCA476286894MRE11c.447T>C (p.Phe149=)
c.456T>C (p.Phe152=)
n.523T>C
c.-22T>C (n.-22T>C)
n.743T>C
11g.94478832A>TCA382377640MRE11c.447T>A (p.Phe149Leu)
c.456T>A (p.Phe152Leu)
n.523T>A
c.-22T>A (n.-22T>A)
n.743T>A
11g.94478833A=CA1992436980MRE11c.446T= (p.Phe149=)
c.455T= (p.Phe152=)
n.522T=
c.-23T= (n.-23T=)
n.742T=
11g.94478833A>CCA382377642MRE11c.446T>G (p.Phe149Cys)
c.455T>G (p.Phe152Cys)
n.522T>G
c.-23T>G (n.-23T>G)
n.742T>G
11g.94478833A>GCA6235388MRE11c.446T>C (p.Phe149Ser)
c.455T>C (p.Phe152Ser)
n.522T>C
c.-23T>C (n.-23T>C)
n.742T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.94478833A>TCA382377645MRE11c.446T>A (p.Phe149Tyr)
c.455T>A (p.Phe152Tyr)
n.522T>A
c.-23T>A (n.-23T>A)
n.742T>A
11g.94478834A>CCA382377648MRE11c.445T>G (p.Phe149Val)
c.454T>G (p.Phe152Val)
n.521T>G
c.-24T>G (n.-24T>G)
n.741T>G
11g.94478834A>GCA382377649MRE11c.445T>C (p.Phe149Leu)
c.454T>C (p.Phe152Leu)
n.521T>C
c.-24T>C (n.-24T>C)
n.741T>C
11g.94478834A>TCA382377651MRE11c.445T>A (p.Phe149Ile)
c.454T>A (p.Phe152Ile)
n.521T>A
c.-24T>A (n.-24T>A)
n.741T>A
11g.94478835T>ACA476286895MRE11c.444A>T (p.Gly148=)
c.453A>T (p.Gly151=)
n.520A>T
c.-25A>T (n.-25A>T)
n.740A>T
11g.94478835T>CCA6235389MRE11c.444A>G (p.Gly148=)
c.453A>G (p.Gly151=)
n.520A>G
c.-25A>G (n.-25A>G)
n.740A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.94478835T>GCA476286896MRE11c.444A>C (p.Gly148=)
c.453A>C (p.Gly151=)
n.520A>C
c.-25A>C (n.-25A>C)
n.740A>C
11g.94478835T=CA1992436992MRE11c.444A= (p.Gly148=)
c.453A= (p.Gly151=)
n.520A=
c.-25A= (n.-25A=)
n.740A=
11g.94478836C>ACA382377654MRE11c.443G>T (p.Gly148Val)
c.452G>T (p.Gly151Val)
n.519G>T
c.-26G>T (n.-26G>T)
n.739G>T
 dbSNP
11g.94478836C=CA1992437015MRE11c.443G= (p.Gly148=)
c.452G= (p.Gly151=)
n.519G=
c.-26G= (n.-26G=)
n.739G=
11g.94478836C>GCA382377656MRE11c.443G>C (p.Gly148Ala)
c.452G>C (p.Gly151Ala)
n.519G>C
c.-26G>C (n.-26G>C)
n.739G>C
11g.94478836C>TCA382377658MRE11c.443G>A (p.Gly148Glu)
c.452G>A (p.Gly151Glu)
n.519G>A
c.-26G>A (n.-26G>A)
n.739G>A
11g.94478837C>ACA382377660MRE11c.442G>T (p.Gly148Ter)
c.451G>T (p.Gly151Ter)
n.518G>T
c.-27G>T (n.-27G>T)
n.738G>T
11g.94478837C>GCA382377664MRE11c.442G>C (p.Gly148Arg)
c.451G>C (p.Gly151Arg)
n.518G>C
c.-27G>C (n.-27G>C)
n.738G>C
11g.94478837C>TCA382377662MRE11c.442G>A (p.Gly148Arg)
c.451G>A (p.Gly151Arg)
n.518G>A
c.-27G>A (n.-27G>A)
n.738G>A
 ClinVar
11g.94478838A>CCA476286897MRE11c.441T>G (p.Ala147=)
c.450T>G (p.Ala150=)
n.517T>G
c.-28T>G (n.-28T>G)
n.737T>G
11g.94478838A>GCA476286899MRE11c.441T>C (p.Ala147=)
c.450T>C (p.Ala150=)
n.517T>C
c.-28T>C (n.-28T>C)
n.737T>C
11g.94478838A>TCA476286898MRE11c.441T>A (p.Ala147=)
c.450T>A (p.Ala150=)
n.517T>A
c.-28T>A (n.-28T>A)
n.737T>A
11g.94478839G>ACA382377666MRE11c.440C>T (p.Ala147Val)
c.449C>T (p.Ala150Val)
n.516C>T
c.-29C>T (n.-29C>T)
n.736C>T
 dbSNP
11g.94478839G>CCA382377669MRE11c.440C>G (p.Ala147Gly)
c.449C>G (p.Ala150Gly)
n.516C>G
c.-29C>G (n.-29C>G)
n.736C>G
11g.94478839G=CA1992437019MRE11c.440C= (p.Ala147=)
c.449C= (p.Ala150=)
n.516C=
c.-29C= (n.-29C=)
n.736C=
11g.94478839G>TCA6235390MRE11c.440C>A (p.Ala147Asp)
c.449C>A (p.Ala150Asp)
n.516C>A
c.-29C>A (n.-29C>A)
n.736C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.94478840C>ACA382377672MRE11c.439G>T (p.Ala147Ser)
c.448G>T (p.Ala150Ser)
n.515G>T
c.-30G>T (n.-30G>T)
n.735G>T
11g.94478840C>GCA382377674MRE11c.439G>C (p.Ala147Pro)
c.448G>C (p.Ala150Pro)
n.515G>C
c.-30G>C (n.-30G>C)
n.735G>C
 dbSNP gnomAD v4
11g.94478840C>TCA382377675MRE11c.439G>A (p.Ala147Thr)
c.448G>A (p.Ala150Thr)
n.515G>A
c.-30G>A (n.-30G>A)
n.735G>A
 dbSNP
11g.94478841A>CCA382377677MRE11c.438T>G (p.Cys146Trp)
c.447T>G (p.Cys149Trp)
n.514T>G
c.-31T>G (n.-31T>G)
n.734T>G
11g.94478841A>GCA476286900MRE11c.438T>C (p.Cys146=)
c.447T>C (p.Cys149=)
n.514T>C
c.-31T>C (n.-31T>C)
n.734T>C
 ClinVar
11g.94478841A>TCA382377680MRE11c.438T>A (p.Cys146Ter)
c.447T>A (p.Cys149Ter)
n.514T>A
c.-31T>A (n.-31T>A)
n.734T>A
11g.94478842C>ACA382377684MRE11c.437G>T (p.Cys146Phe)
c.446G>T (p.Cys149Phe)
n.513G>T
c.-32G>T (n.-32G>T)
n.733G>T
 ClinVar dbSNP
11g.94478842C=CA1992437025MRE11c.437G= (p.Cys146=)
c.446G= (p.Cys149=)
n.513G=
c.-32G= (n.-32G=)
n.733G=
11g.94478842C>GCA382377687MRE11c.437G>C (p.Cys146Ser)
c.446G>C (p.Cys149Ser)
n.513G>C
c.-32G>C (n.-32G>C)
n.733G>C
 ClinVar
11g.94478842C>TCA382377688MRE11c.437G>A (p.Cys146Tyr)
c.446G>A (p.Cys149Tyr)
n.513G>A
c.-32G>A (n.-32G>A)
n.733G>A
11g.94478845_94478858delCA2574952721MRE11c.424_437del (p.Asp142CysfsTer19)
c.433_446del (p.Asp145CysfsTer19)
n.500_513del
c.-45_-32del (n.-45_-32del)
n.720_733del
11g.94478843A=CA1992437029MRE11c.436T= (p.Cys146=)
c.445T= (p.Cys149=)
n.512T=
c.-33T= (n.-33T=)
n.732T=
11g.94478843A>CCA382377698MRE11c.436T>G (p.Cys146Gly)
c.445T>G (p.Cys149Gly)
n.512T>G
c.-33T>G (n.-33T>G)
n.732T>G
 dbSNP gnomAD v2 gnomAD v4
11g.94478843A>GCA382377695MRE11c.436T>C (p.Cys146Arg)
c.445T>C (p.Cys149Arg)
n.512T>C
c.-33T>C (n.-33T>C)
n.732T>C
11g.94478843A>TCA382377691MRE11c.436T>A (p.Cys146Ser)
c.445T>A (p.Cys149Ser)
n.512T>A
c.-33T>A (n.-33T>A)
n.732T>A
11g.94478844A>CCA382377701MRE11c.435T>G (p.Ser145Arg)
c.444T>G (p.Ser148Arg)
n.511T>G
c.-34T>G (n.-34T>G)
n.731T>G
11g.94478844A>GCA476286902MRE11c.435T>C (p.Ser145=)
c.444T>C (p.Ser148=)
n.511T>C
c.-34T>C (n.-34T>C)
n.731T>C
 gnomAD v4
11g.94478844A>TCA382377704MRE11c.435T>A (p.Ser145Arg)
c.444T>A (p.Ser148Arg)
n.511T>A
c.-34T>A (n.-34T>A)
n.731T>A
11g.94478845C>ACA6235391MRE11c.434G>T (p.Ser145Ile)
c.443G>T (p.Ser148Ile)
n.510G>T
c.-35G>T (n.-35G>T)
n.730G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.94478845C=CA1992437038MRE11c.434G= (p.Ser145=)
c.443G= (p.Ser148=)
n.510G=
c.-35G= (n.-35G=)
n.730G=
11g.94478845C>GCA382377707MRE11c.434G>C (p.Ser145Thr)
c.443G>C (p.Ser148Thr)
n.510G>C
c.-35G>C (n.-35G>C)
n.730G>C
 ClinVar gnomAD v4
11g.94478845C>TCA382377709MRE11c.434G>A (p.Ser145Asn)
c.443G>A (p.Ser148Asn)
n.510G>A
c.-35G>A (n.-35G>A)
n.730G>A
 gnomAD v4
11g.94478846T>ACA382377711MRE11c.433A>T (p.Ser145Cys)
c.442A>T (p.Ser148Cys)
n.509A>T
c.-36A>T (n.-36A>T)
n.729A>T
11g.94478846T>CCA382377713MRE11c.433A>G (p.Ser145Gly)
c.442A>G (p.Ser148Gly)
n.509A>G
c.-36A>G (n.-36A>G)
n.729A>G
 ClinVar dbSNP
11g.94478846T>GCA382377714MRE11c.433A>C (p.Ser145Arg)
c.442A>C (p.Ser148Arg)
n.509A>C
c.-36A>C (n.-36A>C)
n.729A>C
11g.94478846T=CA1992437049MRE11c.433A= (p.Ser145=)
c.442A= (p.Ser148=)
n.509A=
c.-36A= (n.-36A=)
n.729A=
11g.94478847T>ACA382377716MRE11c.432A>T (p.Leu144Phe)
c.441A>T (p.Leu147Phe)
n.508A>T
c.-37A>T (n.-37A>T)
n.728A>T
 gnomAD v4
11g.94478847T>CCA333844MRE11c.432A>G (p.Leu144=)
c.441A>G (p.Leu147=)
n.508A>G
c.-37A>G (n.-37A>G)
n.728A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.94478847T>GCA382377719MRE11c.432A>C (p.Leu144Phe)
c.441A>C (p.Leu147Phe)
n.508A>C
c.-37A>C (n.-37A>C)
n.728A>C
11g.94478847T=CA1992437064MRE11c.432A= (p.Leu144=)
c.441A= (p.Leu147=)
n.508A=
c.-37A= (n.-37A=)
n.728A=
11g.94478848A=CA1992437076MRE11c.431T= (p.Leu144=)
c.440T= (p.Leu147=)
n.507T=
c.-38T= (n.-38T=)
n.727T=
11g.94478848A>CCA382377725MRE11c.431T>G (p.Leu144Ter)
c.440T>G (p.Leu147Ter)
n.507T>G
c.-38T>G (n.-38T>G)
n.727T>G
11g.94478848A>GCA10579408MRE11c.431T>C (p.Leu144Ser)
c.440T>C (p.Leu147Ser)
n.507T>C
c.-38T>C (n.-38T>C)
n.727T>C
 ClinVar dbSNP
11g.94478848A>TCA382377722MRE11c.431T>A (p.Leu144Ter)
c.440T>A (p.Leu147Ter)
n.507T>A
c.-38T>A (n.-38T>A)
n.727T>A
11g.94478851delCA2574952722MRE11c.431del (p.Leu144Ter)
c.440del (p.Leu147Ter)
n.507del
c.-38del (n.-38del)
n.727del
11g.94478849A>CCA382377726MRE11c.430T>G (p.Leu144Val)
c.439T>G (p.Leu147Val)
n.506T>G
c.-39T>G (n.-39T>G)
n.726T>G
11g.94478849A>GCA476286904MRE11c.430T>C (p.Leu144=)
c.439T>C (p.Leu147=)
n.506T>C
c.-39T>C (n.-39T>C)
n.726T>C
 gnomAD v4
11g.94478849A>TCA382377728MRE11c.430T>A (p.Leu144Ile)
c.439T>A (p.Leu147Ile)
n.506T>A
c.-39T>A (n.-39T>A)
n.726T>A
11g.94478850A>CCA382377730MRE11c.429T>G (p.Ile143Met)
c.438T>G (p.Ile146Met)
n.505T>G
c.-40T>G (n.-40T>G)
n.725T>G
11g.94478850A>GCA476286905MRE11c.429T>C (p.Ile143=)
c.438T>C (p.Ile146=)
n.505T>C
c.-40T>C (n.-40T>C)
n.725T>C
 ClinVar dbSNP
11g.94478850A>TCA476286906MRE11c.429T>A (p.Ile143=)
c.438T>A (p.Ile146=)
n.505T>A
c.-40T>A (n.-40T>A)
n.725T>A
11g.94478851A>CCA382377736MRE11c.428T>G (p.Ile143Ser)
c.437T>G (p.Ile146Ser)
n.504T>G
c.-41T>G (n.-41T>G)
n.724T>G
 ClinVar
11g.94478851A>GCA382377732MRE11c.428T>C (p.Ile143Thr)
c.437T>C (p.Ile146Thr)
n.504T>C
c.-41T>C (n.-41T>C)
n.724T>C
11g.94478851A>TCA382377733MRE11c.428T>A (p.Ile143Asn)
c.437T>A (p.Ile146Asn)
n.504T>A
c.-41T>A (n.-41T>A)
n.724T>A
11g.94478852T>ACA382377738MRE11c.427A>T (p.Ile143Phe)
c.436A>T (p.Ile146Phe)
n.503A>T
c.-42A>T (n.-42A>T)
n.723A>T
11g.94478852T>CCA382377740MRE11c.427A>G (p.Ile143Val)
c.436A>G (p.Ile146Val)
n.503A>G
c.-42A>G (n.-42A>G)
n.723A>G
 ClinVar dbSNP
11g.94478852T>GCA382377742MRE11c.427A>C (p.Ile143Leu)
c.436A>C (p.Ile146Leu)
n.503A>C
c.-42A>C (n.-42A>C)
n.723A>C
11g.94478852T=CA1992437084MRE11c.427A= (p.Ile143=)
c.436A= (p.Ile146=)
n.503A=
c.-42A= (n.-42A=)
n.723A=
11g.94478853G>ACA333732MRE11c.426C>T (p.Asp142=)
c.435C>T (p.Asp145=)
n.502C>T
c.-43C>T (n.-43C>T)
n.722C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.94478853G>CCA382377745MRE11c.426C>G (p.Asp142Glu)
c.435C>G (p.Asp145Glu)
n.502C>G
c.-43C>G (n.-43C>G)
n.722C>G
11g.94478853G=CA1992437089MRE11c.426C= (p.Asp142=)
c.435C= (p.Asp145=)
n.502C=
c.-43C= (n.-43C=)
n.722C=
11g.94478853G>TCA382377747MRE11c.426C>A (p.Asp142Glu)
c.435C>A (p.Asp145Glu)
n.502C>A
c.-43C>A (n.-43C>A)
n.722C>A
 ClinVar dbSNP gnomAD v4
11g.94478854T>ACA382377749MRE11c.425A>T (p.Asp142Val)
c.434A>T (p.Asp145Val)
n.501A>T
c.-44A>T (n.-44A>T)
n.721A>T
11g.94478854T>CCA382377751MRE11c.425A>G (p.Asp142Gly)
c.434A>G (p.Asp145Gly)
n.501A>G
c.-44A>G (n.-44A>G)
n.721A>G
11g.94478854T>GCA382377753MRE11c.425A>C (p.Asp142Ala)
c.434A>C (p.Asp145Ala)
n.501A>C
c.-44A>C (n.-44A>C)
n.721A>C
11g.94478855C>ACA382377761MRE11c.424G>T (p.Asp142Tyr)
c.433G>T (p.Asp145Tyr)
n.500G>T
c.-45G>T (n.-45G>T)
n.720G>T
 gnomAD v4
11g.94478855C=CA1992437095MRE11c.424G= (p.Asp142=)
c.433G= (p.Asp145=)
n.500G=
c.-45G= (n.-45G=)
n.720G=
11g.94478855C>GCA382377756MRE11c.424G>C (p.Asp142His)
c.433G>C (p.Asp145His)
n.500G>C
c.-45G>C (n.-45G>C)
n.720G>C
11g.94478855C>TCA6235392MRE11c.424G>A (p.Asp142Asn)
c.433G>A (p.Asp145Asn)
n.500G>A
c.-45G>A (n.-45G>A)
n.720G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.94478856C>ACA382377764MRE11c.423G>T (p.Leu141Phe)
c.432G>T (p.Leu144Phe)
n.499G>T
c.-46G>T (n.-46G>T)
n.719G>T
11g.94478856C=CA1992437105MRE11c.423G= (p.Leu141=)
c.432G= (p.Leu144=)
n.499G=
c.-46G= (n.-46G=)
n.719G=
11g.94478856C>GCA382377765MRE11c.423G>C (p.Leu141Phe)
c.432G>C (p.Leu144Phe)
n.499G>C
c.-46G>C (n.-46G>C)
n.719G>C
11g.94478856C>TCA226537445MRE11c.423G>A (p.Leu141=)
c.432G>A (p.Leu144=)
n.499G>A
c.-46G>A (n.-46G>A)
n.719G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.94478857A>CCA382377770MRE11c.422T>G (p.Leu141Trp)
c.431T>G (p.Leu144Trp)
n.498T>G
c.-47T>G (n.-47T>G)
n.718T>G
11g.94478857A>GCA382377772MRE11c.422T>C (p.Leu141Ser)
c.431T>C (p.Leu144Ser)
n.498T>C
c.-47T>C (n.-47T>C)
n.718T>C
 ClinVar
11g.94478857A>TCA382377774MRE11c.422T>A (p.Leu141Ter)
c.431T>A (p.Leu144Ter)
n.498T>A
c.-47T>A (n.-47T>A)
n.718T>A
11g.94478858dupCA600841958MRE11c.422dup (p.Leu141PhefsTer25)
c.431dup (p.Leu144PhefsTer25)
n.498dup
c.-47dup (n.-47dup)
n.718dup
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.94478858A>CCA382377775MRE11c.421T>G (p.Leu141Val)
c.430T>G (p.Leu144Val)
n.497T>G
c.-48T>G (n.-48T>G)
n.717T>G
11g.94478858A>GCA476286907MRE11c.421T>C (p.Leu141=)
c.430T>C (p.Leu144=)
n.497T>C
c.-48T>C (n.-48T>C)
n.717T>C
11g.94478858A>TCA382377776MRE11c.421T>A (p.Leu141Met)
c.430T>A (p.Leu144Met)
n.497T>A
c.-48T>A (n.-48T>A)
n.717T>A
11g.94478859G>ACA476286908MRE11c.420C>T (p.Ala140=)
c.429C>T (p.Ala143=)
n.496C>T
c.-49C>T (n.-49C>T)
n.716C>T
 ClinVar
11g.94478859G>CCA476286909MRE11c.420C>G (p.Ala140=)
c.429C>G (p.Ala143=)
n.496C>G
c.-49C>G (n.-49C>G)
n.716C>G
11g.94478859G>TCA476286910MRE11c.420C>A (p.Ala140=)
c.429C>A (p.Ala143=)
n.496C>A
c.-49C>A (n.-49C>A)
n.716C>A
11g.94478860G>ACA382377777MRE11c.419C>T (p.Ala140Val)
c.428C>T (p.Ala143Val)
n.495C>T
c.-50C>T (n.-50C>T)
n.715C>T
 dbSNP gnomAD v4
11g.94478860G>CCA382377779MRE11c.419C>G (p.Ala140Gly)
c.428C>G (p.Ala143Gly)
n.495C>G
c.-50C>G (n.-50C>G)
n.715C>G
11g.94478860G>TCA382377781MRE11c.419C>A (p.Ala140Asp)
c.428C>A (p.Ala143Asp)
n.495C>A
c.-50C>A (n.-50C>A)
n.715C>A
11g.94478861C>ACA382377783MRE11c.418G>T (p.Ala140Ser)
c.427G>T (p.Ala143Ser)
n.494G>T
c.-51G>T (n.-51G>T)
n.714G>T
11g.94478861C>GCA382377784MRE11c.418G>C (p.Ala140Pro)
c.427G>C (p.Ala143Pro)
n.494G>C
c.-51G>C (n.-51G>C)
n.714G>C
11g.94478861C>TCA382377782MRE11c.418G>A (p.Ala140Thr)
c.427G>A (p.Ala143Thr)
n.494G>A
c.-51G>A (n.-51G>A)
n.714G>A
11g.94478862A>CCA382377785MRE11c.417T>G (p.Cys139Trp)
c.426T>G (p.Cys142Trp)
n.493T>G
c.-52T>G (n.-52T>G)
n.713T>G
11g.94478862A>GCA476286911MRE11c.417T>C (p.Cys139=)
c.426T>C (p.Cys142=)
n.493T>C
c.-52T>C (n.-52T>C)
n.713T>C
11g.94478862A>TCA382377786MRE11c.417T>A (p.Cys139Ter)
c.426T>A (p.Cys142Ter)
n.493T>A
c.-52T>A (n.-52T>A)
n.713T>A
11g.94478863C>ACA382377787MRE11c.416G>T (p.Cys139Phe)
c.425G>T (p.Cys142Phe)
n.492G>T
c.-53G>T (n.-53G>T)
n.712G>T
11g.94478863C>GCA382377788MRE11c.416G>C (p.Cys139Ser)
c.425G>C (p.Cys142Ser)
n.492G>C
c.-53G>C (n.-53G>C)
n.712G>C
11g.94478863C>TCA382377789MRE11c.416G>A (p.Cys139Tyr)
c.425G>A (p.Cys142Tyr)
n.492G>A
c.-53G>A (n.-53G>A)
n.712G>A
11g.94478864A>CCA382377790MRE11c.415T>G (p.Cys139Gly)
c.424T>G (p.Cys142Gly)
n.491T>G
c.-54T>G (n.-54T>G)
n.711T>G
11g.94478864A>GCA382377791MRE11c.415T>C (p.Cys139Arg)
c.424T>C (p.Cys142Arg)
n.491T>C
c.-54T>C (n.-54T>C)
n.711T>C
11g.94478864A>TCA382377792MRE11c.415T>A (p.Cys139Ser)
c.424T>A (p.Cys142Ser)
n.491T>A
c.-54T>A (n.-54T>A)
n.711T>A
11g.94478865A=CA1992437118MRE11c.414T= (p.Leu138=)
c.423T= (p.Leu141=)
n.490T=
c.-55T= (n.-55T=)
n.710T=
11g.94478865A>CCA476286912MRE11c.414T>G (p.Leu138=)
c.423T>G (p.Leu141=)
n.490T>G
c.-55T>G (n.-55T>G)
n.710T>G
11g.94478865A>GCA10582951MRE11c.414T>C (p.Leu138=)
c.423T>C (p.Leu141=)
n.490T>C
c.-55T>C (n.-55T>C)
n.710T>C
 ClinVar dbSNP
11g.94478865A>TCA476286913MRE11c.414T>A (p.Leu138=)
c.423T>A (p.Leu141=)
n.490T>A
c.-55T>A (n.-55T>A)
n.710T>A
11g.94478866A>CCA382377793MRE11c.413T>G (p.Leu138Arg)
c.422T>G (p.Leu141Arg)
n.489T>G
c.-56T>G (n.-56T>G)
n.709T>G
11g.94478866A>GCA382377794MRE11c.413T>C (p.Leu138Pro)
c.422T>C (p.Leu141Pro)
n.489T>C
c.-56T>C (n.-56T>C)
n.709T>C
11g.94478866A>TCA382377795MRE11c.413T>A (p.Leu138His)
c.422T>A (p.Leu141His)
n.489T>A
c.-56T>A (n.-56T>A)
n.709T>A
11g.94478867G>ACA382377798MRE11c.412C>T (p.Leu138Phe)
c.421C>T (p.Leu141Phe)
n.488C>T
c.-57C>T (n.-57C>T)
n.708C>T
11g.94478867G>CCA382377796MRE11c.412C>G (p.Leu138Val)
c.421C>G (p.Leu141Val)
n.488C>G
c.-57C>G (n.-57C>G)
n.708C>G
11g.94478867G>TCA382377797MRE11c.412C>A (p.Leu138Ile)
c.421C>A (p.Leu141Ile)
n.488C>A
c.-57C>A (n.-57C>A)
n.708C>A
11g.94478867_94478868insATTGCGCTATATGGTTTAGGTAAGACAGTTTCA2724795518MRE11c.411_412insAAACTGTCTTACCTAAACCATATAGCGCAAT (p.Leu138LysfsTer38)
c.420_421insAAACTGTCTTACCTAAACCATATAGCGCAAT (p.Leu141LysfsTer38)
n.487_488insAAACTGTCTTACCTAAACCATATAGCGCAAT
c.-58_-57insAAACTGTCTTACCTAAACCATATAGCGCAAT (n.-58_-57insAAACTGTCTTACCTAAACCATATAGCGCAAT)
n.707_708insAAACTGTCTTACCTAAACCATATAGCGCAAT
 dbSNP
11g.94478868T>ACA476286914MRE11c.411A>T (p.Ala137=)
c.420A>T (p.Ala140=)
n.487A>T
c.-58A>T (n.-58A>T)
n.707A>T
11g.94478868T>CCA6235393MRE11c.411A>G (p.Ala137=)
c.420A>G (p.Ala140=)
n.487A>G
c.-58A>G (n.-58A>G)
n.707A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.94478868T>GCA476286915MRE11c.411A>C (p.Ala137=)
c.420A>C (p.Ala140=)
n.487A>C
c.-58A>C (n.-58A>C)
n.707A>C
11g.94478868T=CA1992437128MRE11c.411A= (p.Ala137=)
c.420A= (p.Ala140=)
n.487A=
c.-58A= (n.-58A=)
n.707A=
11g.94478869G>ACA382377799MRE11c.410C>T (p.Ala137Val)
c.419C>T (p.Ala140Val)
n.486C>T
c.-59C>T (n.-59C>T)
n.706C>T
11g.94478869G>CCA382377800MRE11c.410C>G (p.Ala137Gly)
c.419C>G (p.Ala140Gly)
n.486C>G
c.-59C>G (n.-59C>G)
n.706C>G
11g.94478869G>TCA382377801MRE11c.410C>A (p.Ala137Glu)
c.419C>A (p.Ala140Glu)
n.486C>A
c.-59C>A (n.-59C>A)
n.706C>A
11g.94478870C>ACA382377802MRE11c.409G>T (p.Ala137Ser)
c.418G>T (p.Ala140Ser)
n.485G>T
c.-60G>T (n.-60G>T)
n.705G>T
11g.94478870C>GCA382377803MRE11c.409G>C (p.Ala137Pro)
c.418G>C (p.Ala140Pro)
n.485G>C
c.-60G>C (n.-60G>C)
n.705G>C
11g.94478870C>TCA382377804MRE11c.409G>A (p.Ala137Thr)
c.418G>A (p.Ala140Thr)
n.485G>A
c.-60G>A (n.-60G>A)
n.705G>A
 dbSNP
11g.94478871A=CA1992437136MRE11c.408T= (p.Asp136=)
c.417T= (p.Asp139=)
n.484T=
c.-61T= (n.-61T=)
n.704T=
11g.94478871A>CCA382377805MRE11c.408T>G (p.Asp136Glu)
c.417T>G (p.Asp139Glu)
n.484T>G
c.-61T>G (n.-61T>G)
n.704T>G
11g.94478871A>GCA10579409MRE11c.408T>C (p.Asp136=)
c.417T>C (p.Asp139=)
n.484T>C
c.-61T>C (n.-61T>C)
n.704T>C
 ClinVar dbSNP
11g.94478871A>TCA382377806MRE11c.408T>A (p.Asp136Glu)
c.417T>A (p.Asp139Glu)
n.484T>A
c.-61T>A (n.-61T>A)
n.704T>A

Number of alleles fetched