Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.47411348_47413406delCA658760710MSH2c.645+976_792+846del
c.447+976_594+846del
n.717+976_864+846del
n.707+976_854+846del
2g.47412408_47412495delCA2580066592MSH2c.646-6_727del
c.448-6_529del
n.718-6_799del
n.708-6_789del
 ClinVar
2g.47412413_47413046delCA2499215988MSH2c.646-1_792+486del
c.448-1_594+486del
n.718-1_864+486del
n.708-1_854+486del
 ClinVar dbSNP
2g.47412461C>ACA346731937MSH2c.693C>A (p.Asp231Glu)
c.495C>A (p.Asp165Glu)
n.765C>A
n.755C>A
2g.47412461C=CA2495832706MSH2c.693C= (p.Asp231=)
c.495C= (p.Asp165=)
n.765C=
n.755C=
2g.47412461C>GCA346731939MSH2c.693C>G (p.Asp231Glu)
c.495C>G (p.Asp165Glu)
n.765C>G
n.755C>G
 dbSNP
2g.47412461C>TCA040060MSH2c.693C>T (p.Asp231=)
c.495C>T (p.Asp165=)
n.765C>T
n.755C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.47412461_47412463delinsCTTCA2495832705MSH2c.693_695delinsCTT (p.Asp231=)
c.495_497delinsCTT (p.Asp165=)
n.765_767delinsCTT
n.755_757delinsCTT
2g.47412462T>ACA346731946MSH2c.694T>A (p.Phe232Ile)
c.496T>A (p.Phe166Ile)
n.766T>A
n.756T>A
2g.47412462T>CCA346731951MSH2c.694T>C (p.Phe232Leu)
c.496T>C (p.Phe166Leu)
n.766T>C
n.756T>C
2g.47412462T>GCA346731949MSH2c.694T>G (p.Phe232Val)
c.496T>G (p.Phe166Val)
n.766T>G
n.756T>G
2g.47412465dupCA2697548110MSH2c.697dup (p.Ser233PhefsTer23)
c.499dup (p.Ser167PhefsTer23)
n.769dup
n.759dup
 ClinVar
2g.47412465delCA2499215990MSH2c.697del (p.Ser233ProfsTer13)
c.499del (p.Ser167ProfsTer13)
n.769del
n.759del
 ClinVar dbSNP
2g.47412464_47412465delCA022033MSH2c.696_697del (p.Ser233HisfsTer22)
c.498_499del (p.Ser167HisfsTer22)
n.768_769del
n.758_759del
 ClinVar dbSNP
2g.47412463T>ACA346731955MSH2c.695T>A (p.Phe232Tyr)
c.497T>A (p.Phe166Tyr)
n.767T>A
n.757T>A
2g.47412463T>CCA346731957MSH2c.695T>C (p.Phe232Ser)
c.497T>C (p.Phe166Ser)
n.767T>C
n.757T>C
 dbSNP gnomAD v4
2g.47412463T>GCA346731961MSH2c.695T>G (p.Phe232Cys)
c.497T>G (p.Phe166Cys)
n.767T>G
n.757T>G
2g.47412464T>ACA346731964MSH2c.696T>A (p.Phe232Leu)
c.498T>A (p.Phe166Leu)
n.768T>A
n.758T>A
2g.47412464T>CCA425967560MSH2c.696T>C (p.Phe232=)
c.498T>C (p.Phe166=)
n.768T>C
n.758T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.47412464T>GCA346731966MSH2c.696T>G (p.Phe232Leu)
c.498T>G (p.Phe166Leu)
n.768T>G
n.758T>G
2g.47412464T=CA2495832707MSH2c.696T= (p.Phe232=)
c.498T= (p.Phe166=)
n.768T=
n.758T=
2g.47412465T>ACA346731976MSH2c.697T>A (p.Ser233Thr)
c.499T>A (p.Ser167Thr)
n.769T>A
n.759T>A
2g.47412465T>CCA346731973MSH2c.697T>C (p.Ser233Pro)
c.499T>C (p.Ser167Pro)
n.769T>C
n.759T>C
 gnomAD v4
2g.47412465T>GCA346731969MSH2c.697T>G (p.Ser233Ala)
c.499T>G (p.Ser167Ala)
n.769T>G
n.759T>G
2g.47412466C>ACA346731980MSH2c.698C>A (p.Ser233Tyr)
c.500C>A (p.Ser167Tyr)
n.770C>A
n.760C>A
 dbSNP
2g.47412466C=CA2495832708MSH2c.698C= (p.Ser233=)
c.500C= (p.Ser167=)
n.770C=
n.760C=
2g.47412466C>GCA022041MSH2c.698C>G (p.Ser233Cys)
c.500C>G (p.Ser167Cys)
n.770C>G
n.760C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.47412466C>TCA346731983MSH2c.698C>T (p.Ser233Phe)
c.500C>T (p.Ser167Phe)
n.770C>T
n.760C>T
 ClinVar dbSNP gnomAD v4
2g.47412467delCA1139771116MSH2c.699del (p.Thr234GlnfsTer12)
c.501del (p.Thr168GlnfsTer12)
n.771del
n.761del
 ClinVar
2g.47412466_47412484delinsCCACAAAAGACATTTATCACA2495832709MSH2c.698_716delinsCCACAAAAGACATTTATCA (p.Ser233=)
c.500_518delinsCCACAAAAGACATTTATCA (p.Ser167=)
n.770_788delinsCCACAAAAGACATTTATCA
n.760_778delinsCCACAAAAGACATTTATCA
2g.47412467C>ACA425967576MSH2c.699C>A (p.Ser233=)
c.501C>A (p.Ser167=)
n.771C>A
n.761C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.47412467C=CA2495832711MSH2c.699C= (p.Ser233=)
c.501C= (p.Ser167=)
n.771C=
n.761C=
2g.47412467C>GCA425967578MSH2c.699C>G (p.Ser233=)
c.501C>G (p.Ser167=)
n.771C>G
n.761C>G
2g.47412467C>TCA425967581MSH2c.699C>T (p.Ser233=)
c.501C>T (p.Ser167=)
n.771C>T
n.761C>T
 dbSNP gnomAD v4 COSMIC
2g.47412467_47412484delCA2495832710MSH2c.699_716del (p.Thr234_Gln239del)
c.501_518del (p.Thr168_Gln173del)
n.771_788del
n.761_778del
 ClinVar dbSNP
2g.47412468A=CA2495832712MSH2c.700A= (p.Thr234=)
c.502A= (p.Thr168=)
n.772A=
n.762A=
2g.47412468A>CCA346731984MSH2c.700A>C (p.Thr234Pro)
c.502A>C (p.Thr168Pro)
n.772A>C
n.762A>C
2g.47412468A>GCA346731985MSH2c.700A>G (p.Thr234Ala)
c.502A>G (p.Thr168Ala)
n.772A>G
n.762A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.47412468A>TCA346731986MSH2c.700A>T (p.Thr234Ser)
c.502A>T (p.Thr168Ser)
n.772A>T
n.762A>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.47412471_47412477delCA2499215991MSH2c.703_709del (p.Lys235PhefsTer9)
c.505_511del (p.Lys169PhefsTer9)
n.775_781del
n.765_771del
 ClinVar dbSNP
2g.47412469C>ACA346731989MSH2c.701C>A (p.Thr234Lys)
c.503C>A (p.Thr168Lys)
n.773C>A
n.763C>A
 ClinVar
2g.47412469C=CA2495832714MSH2c.701C= (p.Thr234=)
c.503C= (p.Thr168=)
n.773C=
n.763C=
2g.47412469C>GCA10577945MSH2c.701C>G (p.Thr234Arg)
c.503C>G (p.Thr168Arg)
n.773C>G
n.763C>G
 ClinVar dbSNP
2g.47412469C>TCA022053MSH2c.701C>T (p.Thr234Ile)
c.503C>T (p.Thr168Ile)
n.773C>T
n.763C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.47412469_47412471delinsCAACA2495832713MSH2c.701_703delinsCAA (p.Thr234=)
c.503_505delinsCAA (p.Thr168=)
n.773_775delinsCAA
n.763_765delinsCAA
2g.47412470A=CA2495832715MSH2c.702A= (p.Thr234=)
c.504A= (p.Thr168=)
n.774A=
n.764A=
2g.47412470A>CCA425967595MSH2c.702A>C (p.Thr234=)
c.504A>C (p.Thr168=)
n.774A>C
n.764A>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.47412470A>GCA040148MSH2c.702A>G (p.Thr234=)
c.504A>G (p.Thr168=)
n.774A>G
n.764A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.47412470A>TCA425967599MSH2c.702A>T (p.Thr234=)
c.504A>T (p.Thr168=)
n.774A>T
n.764A>T
 gnomAD v4
2g.47412473delCA022063MSH2c.705del (p.Asp236ThrfsTer10)
c.507del (p.Asp170ThrfsTer10)
n.777del
n.767del
 ClinVar dbSNP

Number of alleles fetched