Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51790416T>ACA16606654SCN8Ac.4438T>A (p.Phe1480Ile)
c.2502T>A
c.4315T>A (p.Phe1439Ile)
c.4471T>A (p.Phe1491Ile)
ClinVar dbSNP
12g.51790416T>CCA318280SCN8Ac.4438T>C (p.Phe1480Leu)
c.2502T>C
c.4315T>C (p.Phe1439Leu)
c.4471T>C (p.Phe1491Leu)
ClinVar dbSNP

Number of alleles fetched