Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154969400T>C | CA255084 | F8 | c.940A>G (p.Thr314Ala) c.*816A>G (n.*816A>G) c.835A>G (p.Thr279Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.154969400T>G | CA414917836 | F8 | c.940A>C (p.Thr314Pro) c.*816A>C (n.*816A>C) c.835A>C (p.Thr279Pro) | ClinVar dbSNP |
X | g.154969400T= | CA2466848987 | F8 | c.940A= (p.Thr314=) c.*816A= (n.*816A=) c.835A= (p.Thr279=) | dbSNP |