| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.128588887C>T | CA318774 | SPTAN1 | c.2986C>T (p.Arg996Ter) c.2950C>T (p.Arg984Ter) c.2473C>T (p.Arg825Ter) c.573C>T n.2992C>T n.3060C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.128588887C>G | CA375059849 | SPTAN1 | c.2986C>G (p.Arg996Gly) c.2950C>G (p.Arg984Gly) c.2473C>G (p.Arg825Gly) c.573C>G n.2992C>G n.3060C>G | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.128588887C= | CA1880343965 | SPTAN1 | c.2986C= (p.Arg996=) c.2950C= (p.Arg984=) c.2473C= (p.Arg825=) c.573C= n.2992C= n.3060C= | dbSNP |
| 9 | g.128588887C>A | CA467300845 | SPTAN1 | c.2986C>A (p.Arg996=) c.2950C>A (p.Arg984=) c.2473C>A (p.Arg825=) c.573C>A n.2992C>A n.3060C>A | dbSNP gnomAD v4 |