Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.116783353G>TCA368991564METc.*1287G>T (n.*1287G>T)
c.3736G>T (p.Asp1246Tyr)
c.3682G>T (p.Asp1228Tyr)
c.2392G>T (p.Asp798Tyr)
c.3739G>T (p.Asp1247Tyr)
n.3813G>T
ClinVar dbSNP gnomAD v4
7g.116783353G>CCA16603136METc.*1287G>C (n.*1287G>C)
c.3736G>C (p.Asp1246His)
c.3682G>C (p.Asp1228His)
c.2392G>C (p.Asp798His)
c.3739G>C (p.Asp1247His)
n.3813G>C
ClinVar dbSNP COSMIC
7g.116783353G>ACA257000METc.*1287G>A (n.*1287G>A)
c.3736G>A (p.Asp1246Asn)
c.3682G>A (p.Asp1228Asn)
c.2392G>A (p.Asp798Asn)
c.3739G>A (p.Asp1247Asn)
n.3813G>A
ClinVar dbSNP COSMIC

Number of alleles fetched