| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.43071794T>C | CA9483020 | PSG2,PSG5,PSG7 | c.870A>G (p.Gln290=) c.215A>G n.534A>G c.709+3560A>G (n.709+3560A>G) c.965-38422A>G (n.965-38422A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.43071794T>A | CA9483021 | PSG2,PSG5,PSG7 | c.870A>T (p.Gln290His) c.215A>T n.534A>T c.709+3560A>T (n.709+3560A>T) c.965-38422A>T (n.965-38422A>T) | dbSNP ExAC |