| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.55014977T>A | CA407477259 | GP6,GP6-AS1 | c.968A>T (p.Lys323Ile) c.910A>T (p.Asn304Tyr) c.964A>T (p.Asn322Tyr) n.408A>T n.312+8513T>A n.305+8513T>A | dbSNP |
| 19 | g.55014977T>G | CA310121736 | GP6,GP6-AS1 | c.968A>C (p.Lys323Thr) c.910A>C (p.Asn304His) c.964A>C (p.Asn322His) n.408A>C n.312+8513T>G n.305+8513T>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.55014977T= | CA2343195545 | GP6,GP6-AS1 | c.968A= (p.Lys323=) c.910A= (p.Asn304=) c.964A= (p.Asn322=) n.408A= n.312+8513T= n.305+8513T= | dbSNP |