Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154863139G>C | CA414907336 | F8 | c.6518C>G (p.Thr2173Ser) c.251C>G (p.Thr84Ser) c.113C>G (p.Thr38Ser) c.6413C>G (p.Thr2138Ser) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154863139G>T | CA414907339 | F8 | c.6518C>A (p.Thr2173Asn) c.251C>A (p.Thr84Asn) c.113C>A (p.Thr38Asn) c.6413C>A (p.Thr2138Asn) | dbSNP |
X | g.154863139G>A | CA255210 | F8 | c.6518C>T (p.Thr2173Ile) c.251C>T (p.Thr84Ile) c.113C>T (p.Thr38Ile) c.6413C>T (p.Thr2138Ile) | ClinVar dbSNP |