| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.111989050A>T | CA6276185 | DIXDC1 | c.1108A>T (p.Ile370Leu) n.104A>T c.226A>T (p.Ile76Leu) c.475A>T (p.Ile159Leu) n.461A>T c.1105A>T (p.Ile369Leu) c.220A>T (p.Ile74Leu) c.1000A>T (p.Ile334Leu) c.997A>T (p.Ile333Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.111989050A= | CA2000511843 | DIXDC1 | c.1108A= (p.Ile370=) n.104A= c.226A= (p.Ile76=) c.475A= (p.Ile159=) n.461A= c.1105A= (p.Ile369=) c.220A= (p.Ile74=) c.1000A= (p.Ile334=) c.997A= (p.Ile333=) | dbSNP |