| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.46723453C>G | CA380263171 | F2 | c.494C>G (p.Thr165Arg) c.464C>G (p.Thr155Arg) n.274C>G c.446C>G (p.Thr149Arg) n.538C>G n.529C>G | dbSNP |
| 11 | g.46723453C>T | CA5966962 | F2 | c.494C>T (p.Thr165Met) c.464C>T (p.Thr155Met) n.274C>T c.446C>T (p.Thr149Met) n.538C>T n.529C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.46723453C= | CA1969070258 | F2 | c.494C= (p.Thr165=) c.464C= (p.Thr155=) n.274C= c.446C= (p.Thr149=) n.538C= n.529C= | dbSNP |