Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.36575322_36575995delinsGCGCA2740093700RAG1c.2018_2691delinsGCG (p.Ala673GlyfsTer7)
ClinVar
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)
11g.36575543C>TCA380154292RAG1c.2239C>T (p.His747Tyr)
gnomAD v4
11g.36575544A=CA1964167516RAG1c.2240A= (p.His747=)
11g.36575544A>CCA380154293RAG1c.2240A>C (p.His747Pro)
ClinVar dbSNP
11g.36575544A>GCA380154294RAG1c.2240A>G (p.His747Arg)
11g.36575544A>TCA380154295RAG1c.2240A>T (p.His747Leu)
11g.36575545C>ACA380154296RAG1c.2241C>A (p.His747Gln)
11g.36575545C=CA1964167522RAG1c.2241C= (p.His747=)
11g.36575545C>GCA380154297RAG1c.2241C>G (p.His747Gln)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.36575545C>TCA220601405RAG1c.2241C>T (p.His747=)
dbSNP gnomAD v4
11g.36575546T>ACA5950232RAG1c.2242T>A (p.Ser748Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.36575546T>CCA380154299RAG1c.2242T>C (p.Ser748Pro)
11g.36575546T>GCA380154298RAG1c.2242T>G (p.Ser748Ala)
11g.36575546T=CA1964167529RAG1c.2242T= (p.Ser748=)
11g.36575547C>ACA380154300RAG1c.2243C>A (p.Ser748Tyr)
dbSNP gnomAD v2 gnomAD v4
11g.36575547C=CA1964167532RAG1c.2243C= (p.Ser748=)
11g.36575547C>GCA380154302RAG1c.2243C>G (p.Ser748Cys)
11g.36575547C>TCA380154301RAG1c.2243C>T (p.Ser748Phe)
11g.36575548T>ACA474032381RAG1c.2244T>A (p.Ser748=)
11g.36575548T>CCA474032380RAG1c.2244T>C (p.Ser748=)
11g.36575548T>GCA474032379RAG1c.2244T>G (p.Ser748=)
11g.36575549A=CA1964167535RAG1c.2245A= (p.Ile749=)
11g.36575549A>CCA380154303RAG1c.2245A>C (p.Ile749Leu)
11g.36575549A>GCA5950233RAG1c.2245A>G (p.Ile749Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.36575549A>TCA380154304RAG1c.2245A>T (p.Ile749Leu)
11g.36575550T>ACA380154305RAG1c.2246T>A (p.Ile749Lys)
11g.36575550T>CCA380154306RAG1c.2246T>C (p.Ile749Thr)
11g.36575550T>GCA380154307RAG1c.2246T>G (p.Ile749Arg)
11g.36575551A>CCA474032382RAG1c.2247A>C (p.Ile749=)
11g.36575551A>GCA380154308RAG1c.2247A>G (p.Ile749Met)
11g.36575551A>TCA474032383RAG1c.2247A>T (p.Ile749=)
11g.36575552A=CA1964167538RAG1c.2248A= (p.Thr750=)
11g.36575552A>CCA380154309RAG1c.2248A>C (p.Thr750Pro)
11g.36575552A>GCA380154310RAG1c.2248A>G (p.Thr750Ala)
11g.36575552A>TCA380154311RAG1c.2248A>T (p.Thr750Ser)
ClinVar dbSNP
11g.36575553C>ACA380154314RAG1c.2249C>A (p.Thr750Asn)
11g.36575553C>GCA380154313RAG1c.2249C>G (p.Thr750Ser)
11g.36575553C>TCA380154312RAG1c.2249C>T (p.Thr750Ile)

Number of alleles fetched