Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.36575322_36575995delinsGCGCA2740093700RAG1c.2018_2691delinsGCG (p.Ala673GlyfsTer7)
ClinVar
11g.36575532dupCA2574801156RAG1c.2228dup (p.Asn743LysfsTer13)
11g.36575532delCA598865165RAG1c.2228del (p.Asn743IlefsTer7)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.36575530A=CA1964167487RAG1c.2226A= (p.Gln742=)
11g.36575530A>CCA380154262RAG1c.2226A>C (p.Gln742His)
11g.36575530A>GCA474032370RAG1c.2226A>G (p.Gln742=)
11g.36575530A>TCA380154263RAG1c.2226A>T (p.Gln742His)
dbSNP gnomAD v3 gnomAD v4
11g.36575531A>CCA380154264RAG1c.2227A>C (p.Asn743His)
11g.36575531A>GCA380154265RAG1c.2227A>G (p.Asn743Asp)
11g.36575531A>TCA380154266RAG1c.2227A>T (p.Asn743Tyr)
11g.36575532A>CCA380154268RAG1c.2228A>C (p.Asn743Thr)
11g.36575532A>GCA380154269RAG1c.2228A>G (p.Asn743Ser)
11g.36575532A>TCA380154267RAG1c.2228A>T (p.Asn743Ile)
11g.36575533T>ACA380154270RAG1c.2229T>A (p.Asn743Lys)
11g.36575533T>CCA474032371RAG1c.2229T>C (p.Asn743=)
gnomAD v4
11g.36575533T>GCA380154271RAG1c.2229T>G (p.Asn743Lys)
11g.36575534C>ACA380154272RAG1c.2230C>A (p.Leu744Ile)
11g.36575534C=CA1964167492RAG1c.2230C= (p.Leu744=)
11g.36575534C>GCA380154273RAG1c.2230C>G (p.Leu744Val)
11g.36575534C>TCA220601400RAG1c.2230C>T (p.Leu744Phe)
dbSNP
11g.36575535T>ACA380154276RAG1c.2231T>A (p.Leu744His)
11g.36575535T>CCA380154275RAG1c.2231T>C (p.Leu744Pro)
11g.36575535T>GCA380154274RAG1c.2231T>G (p.Leu744Arg)
11g.36575536T>ACA474032372RAG1c.2232T>A (p.Leu744=)
11g.36575536T>CCA474032373RAG1c.2232T>C (p.Leu744=)
gnomAD v4
11g.36575536T>GCA474032374RAG1c.2232T>G (p.Leu744=)
11g.36575537G>ACA380154277RAG1c.2233G>A (p.Val745Ile)
dbSNP gnomAD v3 gnomAD v4
11g.36575537G>CCA380154278RAG1c.2233G>C (p.Val745Leu)
dbSNP
11g.36575537G=CA1964167499RAG1c.2233G= (p.Val745=)
11g.36575537G>TCA380154279RAG1c.2233G>T (p.Val745Phe)
11g.36575538T>ACA380154280RAG1c.2234T>A (p.Val745Asp)
11g.36575538T>CCA380154281RAG1c.2234T>C (p.Val745Ala)
dbSNP
11g.36575538T>GCA380154282RAG1c.2234T>G (p.Val745Gly)
11g.36575538T=CA1964167503RAG1c.2234T= (p.Val745=)
11g.36575539C>ACA474032375RAG1c.2235C>A (p.Val745=)
11g.36575539C=CA1964167505RAG1c.2235C= (p.Val745=)
11g.36575539C>GCA474032377RAG1c.2235C>G (p.Val745=)
11g.36575539C>TCA474032376RAG1c.2235C>T (p.Val745=)
ClinVar dbSNP gnomAD v4
11g.36575540T>ACA380154283RAG1c.2236T>A (p.Phe746Ile)
11g.36575540T>CCA380154285RAG1c.2236T>C (p.Phe746Leu)
11g.36575540T>GCA380154284RAG1c.2236T>G (p.Phe746Val)
11g.36575541T>ACA380154286RAG1c.2237T>A (p.Phe746Tyr)
11g.36575541T>CCA380154287RAG1c.2237T>C (p.Phe746Ser)
11g.36575541T>GCA5950231RAG1c.2237T>G (p.Phe746Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.36575541T=CA1964167508RAG1c.2237T= (p.Phe746=)
11g.36575542C>ACA380154288RAG1c.2238C>A (p.Phe746Leu)
COSMIC
11g.36575542C>GCA380154289RAG1c.2238C>G (p.Phe746Leu)
11g.36575542C>TCA474032378RAG1c.2238C>T (p.Phe746=)
11g.36575543C>ACA380154290RAG1c.2239C>A (p.His747Asn)
11g.36575543C>GCA380154291RAG1c.2239C>G (p.His747Asp)

Number of alleles fetched