Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.116777410A>CCA164908384METc.*886A>C (n.*886A>C)
c.3335A>C (p.His1112Pro)
c.3281A>C (p.His1094Pro)
c.1991A>C (p.His664Pro)
c.3338A>C (p.His1113Pro)
n.3412A>C
ClinVar dbSNP gnomAD v4
7g.116777410A>GCA221506METc.*886A>G (n.*886A>G)
c.3335A>G (p.His1112Arg)
c.3281A>G (p.His1094Arg)
c.1991A>G (p.His664Arg)
c.3338A>G (p.His1113Arg)
n.3412A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
7g.116777410A>TCA368989599METc.*886A>T (n.*886A>T)
c.3335A>T (p.His1112Leu)
c.3281A>T (p.His1094Leu)
c.1991A>T (p.His664Leu)
c.3338A>T (p.His1113Leu)
n.3412A>T
dbSNP COSMIC

Number of alleles fetched