Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.50626150_50626154delinsTGACCCA2410958876ARSAc.979_979+4delinsGGTCA
c.721_721+4delinsGGTCA
22g.50626151G>ACA2410958878ARSAc.979+3C>T (n.979+3C>T)
c.721+3C>T (n.721+3C>T)
dbSNP gnomAD v4
22g.50626151G>CCA2657592353ARSAc.979+3C>G (n.979+3C>G)
c.721+3C>G (n.721+3C>G)
gnomAD v4
22g.50626151G=CA2410958877ARSAc.979+3C= (n.979+3C=)
c.721+3C= (n.721+3C=)
22g.50626152_50626155delCA16042036ARSAc.979_979+3del
c.721_721+3del
ClinVar dbSNP
22g.50626152A>CCA412174187ARSAc.979+2T>G (n.979+2T>G)
c.721+2T>G (n.721+2T>G)
gnomAD v4
22g.50626152A>GCA412174190ARSAc.979+2T>C (n.979+2T>C)
c.721+2T>C (n.721+2T>C)
22g.50626152A>TCA412174195ARSAc.979+2T>A (n.979+2T>A)
c.721+2T>A (n.721+2T>A)
22g.50626153C>ACA10324862ARSAc.979+1G>T (n.979+1G>T)
c.721+1G>T (n.721+1G>T)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.50626153C=CA2410958879ARSAc.979+1G= (n.979+1G=)
c.721+1G= (n.721+1G=)
22g.50626153C>GCA412174203ARSAc.979+1G>C (n.979+1G>C)
c.721+1G>C (n.721+1G>C)
22g.50626153C>TCA278479ARSAc.979+1G>A (n.979+1G>A)
c.721+1G>A (n.721+1G>A)
ClinVar dbSNP gnomAD v2 gnomAD v4
22g.50626154C>ACA412174211ARSAc.979G>T (p.Gly327Cys)
c.721G>T (p.Gly241Cys)
ClinVar dbSNP gnomAD v4
22g.50626154C=CA2410958880ARSAc.979G= (p.Gly327=)
c.721G= (p.Gly241=)
22g.50626154C>GCA412174214ARSAc.979G>C (p.Gly327Arg)
c.721G>C (p.Gly241Arg)
22g.50626154C>TCA10324863ARSAc.979G>A (p.Gly327Ser)
c.721G>A (p.Gly241Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.50626155G>ACA515248931ARSAc.978C>T (p.Pro326=)
c.720C>T (p.Pro240=)
ClinVar dbSNP gnomAD v2 gnomAD v4
22g.50626155G>CCA515248932ARSAc.978C>G (p.Pro326=)
c.720C>G (p.Pro240=)
gnomAD v4 COSMIC
22g.50626155G=CA2410958881ARSAc.978C= (p.Pro326=)
c.720C= (p.Pro240=)
22g.50626155G>TCA515248930ARSAc.978C>A (p.Pro326=)
c.720C>A (p.Pro240=)
22g.50626157delCA2657592355ARSAc.978del (p.Gly327AlafsTer2)
c.720del (p.Gly241AlafsTer2)
gnomAD v4
22g.50626156G>ACA412174222ARSAc.977C>T (p.Pro326Leu)
c.719C>T (p.Pro240Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50626156G>CCA412174226ARSAc.977C>G (p.Pro326Arg)
c.719C>G (p.Pro240Arg)
22g.50626156G=CA2410958882ARSAc.977C= (p.Pro326=)
c.719C= (p.Pro240=)
22g.50626156G>TCA412174229ARSAc.977C>A (p.Pro326His)
c.719C>A (p.Pro240His)
22g.50626157G>ACA412174235ARSAc.976C>T (p.Pro326Ser)
c.718C>T (p.Pro240Ser)
dbSNP gnomAD v2 gnomAD v4
22g.50626157G>CCA412174238ARSAc.976C>G (p.Pro326Ala)
c.718C>G (p.Pro240Ala)
22g.50626157G=CA2410958883ARSAc.976C= (p.Pro326=)
c.718C= (p.Pro240=)
22g.50626157G>TCA412174233ARSAc.976C>A (p.Pro326Thr)
c.718C>A (p.Pro240Thr)
22g.50626158A>CCA515248935ARSAc.975T>G (p.Ala325=)
c.717T>G (p.Ala239=)
22g.50626158A>GCA515248933ARSAc.975T>C (p.Ala325=)
c.717T>C (p.Ala239=)
22g.50626158A>TCA515248934ARSAc.975T>A (p.Ala325=)
c.717T>A (p.Ala239=)
22g.50626159G>ACA412174245ARSAc.974C>T (p.Ala325Val)
c.716C>T (p.Ala239Val)
22g.50626159G>CCA412174241ARSAc.974C>G (p.Ala325Gly)
c.716C>G (p.Ala239Gly)
22g.50626159G>TCA412174243ARSAc.974C>A (p.Ala325Asp)
c.716C>A (p.Ala239Asp)
22g.50626160C>ACA412174250ARSAc.973G>T (p.Ala325Ser)
c.715G>T (p.Ala239Ser)
gnomAD v4
22g.50626160C=CA2410958884ARSAc.973G= (p.Ala325=)
c.715G= (p.Ala239=)
22g.50626160C>GCA412174253ARSAc.973G>C (p.Ala325Pro)
c.715G>C (p.Ala239Pro)
22g.50626160C>TCA10324864ARSAc.973G>A (p.Ala325Thr)
c.715G>A (p.Ala239Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.50626161G>ACA10324865ARSAc.972C>T (p.Ile324=)
c.714C>T (p.Ile238=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
22g.50626161G>CCA412174262ARSAc.972C>G (p.Ile324Met)
c.714C>G (p.Ile238Met)
22g.50626161G=CA2410958885ARSAc.972C= (p.Ile324=)
c.714C= (p.Ile238=)
22g.50626161G>TCA515248936ARSAc.972C>A (p.Ile324=)
c.714C>A (p.Ile238=)
gnomAD v4
22g.50626162A=CA2410958886ARSAc.971T= (p.Ile324=)
c.713T= (p.Ile238=)
22g.50626162A>CCA412174266ARSAc.971T>G (p.Ile324Ser)
c.713T>G (p.Ile238Ser)
22g.50626162A>GCA412174267ARSAc.971T>C (p.Ile324Thr)
c.713T>C (p.Ile238Thr)
ClinVar dbSNP gnomAD v2 gnomAD v4
22g.50626162A>TCA412174268ARSAc.971T>A (p.Ile324Asn)
c.713T>A (p.Ile238Asn)
22g.50626163T>ACA412174271ARSAc.970A>T (p.Ile324Phe)
c.712A>T (p.Ile238Phe)
ClinVar
22g.50626163T>CCA325531328ARSAc.970A>G (p.Ile324Val)
c.712A>G (p.Ile238Val)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.50626163T>GCA412174276ARSAc.970A>C (p.Ile324Leu)
c.712A>C (p.Ile238Leu)

Number of alleles fetched