| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.186288514C>G | CA358946065 | F11,F11-AS1 | c.1778C>G (p.Thr593Arg) c.378C>G c.1616C>G (p.Thr539Arg) n.297C>G n.980G>C c.1781C>G (p.Thr594Arg) c.1685C>G (p.Thr562Arg) c.1511C>G (p.Thr504Arg) c.1733C>G (p.Thr578Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.186288514C>T | CA3164121 | F11,F11-AS1 | c.1778C>T (p.Thr593Met) c.378C>T c.1616C>T (p.Thr539Met) n.297C>T n.980G>A c.1781C>T (p.Thr594Met) c.1685C>T (p.Thr562Met) c.1511C>T (p.Thr504Met) c.1733C>T (p.Thr578Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.186288514C= | CA1519939829 | F11,F11-AS1 | c.1778C= (p.Thr593=) c.378C= c.1616C= (p.Thr539=) n.297C= n.980G= c.1781C= (p.Thr594=) c.1685C= (p.Thr562=) c.1511C= (p.Thr504=) c.1733C= (p.Thr578=) | dbSNP |