| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.55014991A>C | CA407477425 | GP6,GP6-AS1 | c.954T>G (p.Ala318=) c.896T>G (p.Leu299Arg) c.950T>G (p.Leu317Arg) n.394T>G n.312+8527A>C n.305+8527A>C | dbSNP gnomAD v4 |
| 19 | g.55014991A>T | CA310121759 | GP6,GP6-AS1 | c.954T>A (p.Ala318=) c.896T>A (p.Leu299Gln) c.950T>A (p.Leu317Gln) n.394T>A n.312+8527A>T n.305+8527A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.55014991A>G | CA407477426 | GP6,GP6-AS1 | c.954T>C (p.Ala318=) c.896T>C (p.Leu299Pro) c.950T>C (p.Leu317Pro) n.394T>C n.312+8527A>G n.305+8527A>G | dbSNP gnomAD v3 gnomAD v4 |