| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.87253798A>C | CA224980 | CHMP2B | c.618A>C (p.Gln206His) c.666A>C (p.Gln222His) n.4282A>C n.4367A>C n.549A>C c.495A>C (p.Gln165His) c.528A>C (p.Gln176His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.87253798A>T | CA2501045 | CHMP2B | c.618A>T (p.Gln206His) c.666A>T (p.Gln222His) n.4282A>T n.4367A>T n.549A>T c.495A>T (p.Gln165His) c.528A>T (p.Gln176His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.87253798A= | CA1381558394 | CHMP2B | c.618A= (p.Gln206=) c.666A= (p.Gln222=) n.4282A= n.4367A= n.549A= c.495A= (p.Gln165=) c.528A= (p.Gln176=) | dbSNP |
| 3 | g.87253798A>G | CA434577114 | CHMP2B | c.618A>G (p.Gln206=) c.666A>G (p.Gln222=) n.4282A>G n.4367A>G n.549A>G c.495A>G (p.Gln165=) c.528A>G (p.Gln176=) | dbSNP gnomAD v4 |