| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.164694691T>A | CA349006271 | COBLL1 | c.2839A>T (p.Asn947Tyr) c.2701A>T (p.Asn901Tyr) c.2815A>T (p.Asn939Tyr) c.2929A>T (p.Asn977Tyr) c.2820A>T n.3610A>T n.47A>T n.4525A>T c.3016A>T (p.Asn1006Tyr) c.2836A>T (p.Asn946Tyr) c.2878A>T (p.Asn960Tyr) c.2740A>T (p.Asn914Tyr) | dbSNP |
| 2 | g.164694691T>C | CA1937191 | COBLL1 | c.2839A>G (p.Asn947Asp) c.2701A>G (p.Asn901Asp) c.2815A>G (p.Asn939Asp) c.2929A>G (p.Asn977Asp) c.2820A>G n.3610A>G n.47A>G n.4525A>G c.3016A>G (p.Asn1006Asp) c.2836A>G (p.Asn946Asp) c.2878A>G (p.Asn960Asp) c.2740A>G (p.Asn914Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |