Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.110780957delCA596112229RBM20c.348del (p.Ala117ProfsTer4)
c.-37del (n.-37del)
c.183del (p.Ala62ProfsTer4)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.110780957C>ACA471506383RBM20c.348C>A (p.Ala116=)
c.-37C>A (n.-37C>A)
c.183C>A (p.Ala61=)
10g.110780957C>GCA471506384RBM20c.348C>G (p.Ala116=)
c.-37C>G (n.-37C>G)
c.183C>G (p.Ala61=)
10g.110780957C>TCA5688504RBM20c.348C>T (p.Ala116=)
c.-37C>T (n.-37C>T)
c.183C>T (p.Ala61=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.110780958G>ACA213234582RBM20c.349G>A (p.Ala117Thr)
c.-36G>A (n.-36G>A)
c.184G>A (p.Ala62Thr)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110780958G>CCA378379711RBM20c.349G>C (p.Ala117Pro)
c.-36G>C (n.-36G>C)
c.184G>C (p.Ala62Pro)
10g.110780958G>TCA213234587RBM20c.349G>T (p.Ala117Ser)
c.-36G>T (n.-36G>T)
c.184G>T (p.Ala62Ser)
ClinVar dbSNP gnomAD v3 gnomAD v4
10g.110780959C>ACA378379712RBM20c.350C>A (p.Ala117Asp)
c.-35C>A (n.-35C>A)
c.185C>A (p.Ala62Asp)
10g.110780959C>GCA378379713RBM20c.350C>G (p.Ala117Gly)
c.-35C>G (n.-35C>G)
c.185C>G (p.Ala62Gly)
10g.110780959C>TCA213234591RBM20c.350C>T (p.Ala117Val)
c.-35C>T (n.-35C>T)
c.185C>T (p.Ala62Val)
dbSNP gnomAD v3 gnomAD v4
10g.110780960C>ACA471506387RBM20c.351C>A (p.Ala117=)
c.-34C>A (n.-34C>A)
c.186C>A (p.Ala62=)
10g.110780960C>GCA471506389RBM20c.351C>G (p.Ala117=)
c.-34C>G (n.-34C>G)
c.186C>G (p.Ala62=)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.110780960C>TCA471506391RBM20c.351C>T (p.Ala117=)
c.-34C>T (n.-34C>T)
c.186C>T (p.Ala62=)
10g.110780961A>CCA378379716RBM20c.352A>C (p.Thr118Pro)
c.-33A>C (n.-33A>C)
c.187A>C (p.Thr63Pro)
10g.110780961A>GCA10582700RBM20c.352A>G (p.Thr118Ala)
c.-33A>G (n.-33A>G)
c.187A>G (p.Thr63Ala)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.110780961A>TCA378379719RBM20c.352A>T (p.Thr118Ser)
c.-33A>T (n.-33A>T)
c.187A>T (p.Thr63Ser)
10g.110780962C>ACA378379722RBM20c.353C>A (p.Thr118Lys)
c.-32C>A (n.-32C>A)
c.188C>A (p.Thr63Lys)
gnomAD v4
10g.110780962C>GCA378379724RBM20c.353C>G (p.Thr118Arg)
c.-32C>G (n.-32C>G)
c.188C>G (p.Thr63Arg)
10g.110780962C>TCA378379727RBM20c.353C>T (p.Thr118Ile)
c.-32C>T (n.-32C>T)
c.188C>T (p.Thr63Ile)
ClinVar dbSNP
10g.110780963A>CCA471506392RBM20c.354A>C (p.Thr118=)
c.-31A>C (n.-31A>C)
c.189A>C (p.Thr63=)
gnomAD v4
10g.110780963A>GCA471506393RBM20c.354A>G (p.Thr118=)
c.-31A>G (n.-31A>G)
c.189A>G (p.Thr63=)
10g.110780963A>TCA471506394RBM20c.354A>T (p.Thr118=)
c.-31A>T (n.-31A>T)
c.189A>T (p.Thr63=)
10g.110780964G>ACA378379738RBM20c.355G>A (p.Val119Ile)
c.-30G>A (n.-30G>A)
c.190G>A (p.Val64Ile)
10g.110780964G>CCA378379742RBM20c.355G>C (p.Val119Leu)
c.-30G>C (n.-30G>C)
c.190G>C (p.Val64Leu)
10g.110780964G>TCA378379746RBM20c.355G>T (p.Val119Phe)
c.-30G>T (n.-30G>T)
c.190G>T (p.Val64Phe)
gnomAD v4
10g.110780965T>ACA378379749RBM20c.356T>A (p.Val119Asp)
c.-29T>A (n.-29T>A)
c.191T>A (p.Val64Asp)
10g.110780965T>CCA378379752RBM20c.356T>C (p.Val119Ala)
c.-29T>C (n.-29T>C)
c.191T>C (p.Val64Ala)
dbSNP gnomAD v2
10g.110780965T>GCA378379755RBM20c.356T>G (p.Val119Gly)
c.-29T>G (n.-29T>G)
c.191T>G (p.Val64Gly)
10g.110780966C>ACA471506397RBM20c.357C>A (p.Val119=)
c.-28C>A (n.-28C>A)
c.192C>A (p.Val64=)
10g.110780966C>GCA471506398RBM20c.357C>G (p.Val119=)
c.-28C>G (n.-28C>G)
c.192C>G (p.Val64=)
dbSNP gnomAD v3 gnomAD v4
10g.110780966C>TCA471506400RBM20c.357C>T (p.Val119=)
c.-28C>T (n.-28C>T)
c.192C>T (p.Val64=)
10g.110780967C>ACA378379766RBM20c.358C>A (p.Leu120Met)
c.-27C>A (n.-27C>A)
c.193C>A (p.Leu65Met)
10g.110780967C>GCA378379769RBM20c.358C>G (p.Leu120Val)
c.-27C>G (n.-27C>G)
c.193C>G (p.Leu65Val)
10g.110780967C>TCA471506403RBM20c.358C>T (p.Leu120=)
c.-27C>T (n.-27C>T)
c.193C>T (p.Leu65=)
10g.110780968delCA596112230RBM20c.359del (p.Leu120ArgfsTer18)
c.-26del (n.-26del)
c.194del (p.Leu65ArgfsTer18)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.110780968T>ACA378379781RBM20c.359T>A (p.Leu120Gln)
c.-26T>A (n.-26T>A)
c.194T>A (p.Leu65Gln)
10g.110780968T>CCA378379777RBM20c.359T>C (p.Leu120Pro)
c.-26T>C (n.-26T>C)
c.194T>C (p.Leu65Pro)
COSMIC
10g.110780968T>GCA378379773RBM20c.359T>G (p.Leu120Arg)
c.-26T>G (n.-26T>G)
c.194T>G (p.Leu65Arg)
10g.110780969G>ACA471506404RBM20c.360G>A (p.Leu120=)
c.-25G>A (n.-25G>A)
c.195G>A (p.Leu65=)
10g.110780969G>CCA471506405RBM20c.360G>C (p.Leu120=)
c.-25G>C (n.-25G>C)
c.195G>C (p.Leu65=)
10g.110780969G>TCA471506406RBM20c.360G>T (p.Leu120=)
c.-25G>T (n.-25G>T)
c.195G>T (p.Leu65=)
10g.110780970A>CCA378379783RBM20c.361A>C (p.Asn121His)
c.-24A>C (n.-24A>C)
c.196A>C (p.Asn66His)
10g.110780970A>GCA378379796RBM20c.361A>G (p.Asn121Asp)
c.-24A>G (n.-24A>G)
c.196A>G (p.Asn66Asp)
10g.110780970A>TCA378379787RBM20c.361A>T (p.Asn121Tyr)
c.-24A>T (n.-24A>T)
c.196A>T (p.Asn66Tyr)
10g.110780971A>CCA378379800RBM20c.362A>C (p.Asn121Thr)
c.-23A>C (n.-23A>C)
c.197A>C (p.Asn66Thr)
10g.110780971A>GCA378379801RBM20c.362A>G (p.Asn121Ser)
c.-23A>G (n.-23A>G)
c.197A>G (p.Asn66Ser)
dbSNP gnomAD v4
10g.110780971A>TCA378379803RBM20c.362A>T (p.Asn121Ile)
c.-23A>T (n.-23A>T)
c.197A>T (p.Asn66Ile)
10g.110780972C>ACA378379804RBM20c.363C>A (p.Asn121Lys)
c.-22C>A (n.-22C>A)
c.198C>A (p.Asn66Lys)
10g.110780972C>GCA378379807RBM20c.363C>G (p.Asn121Lys)
c.-22C>G (n.-22C>G)
c.198C>G (p.Asn66Lys)
ClinVar dbSNP gnomAD v4
10g.110780972C>TCA184615RBM20c.363C>T (p.Asn121=)
c.-22C>T (n.-22C>T)
c.198C>T (p.Asn66=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched