Chr Mutation (hg38) CAid Gene Transcript Linkouts
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

Number of alleles fetched