Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.116783360A>GCA257003METc.*1294A>G (n.*1294A>G)
c.3743A>G (p.Tyr1248Cys)
c.3689A>G (p.Tyr1230Cys)
c.2399A>G (p.Tyr800Cys)
c.3746A>G (p.Tyr1249Cys)
n.3820A>G
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
7g.116783360A>TCA368991598METc.*1294A>T (n.*1294A>T)
c.3743A>T (p.Tyr1248Phe)
c.3689A>T (p.Tyr1230Phe)
c.2399A>T (p.Tyr800Phe)
c.3746A>T (p.Tyr1249Phe)
n.3820A>T
dbSNP

Number of alleles fetched