| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.36754358T>A | CA312626 | HLCS | c.2510A>T (p.Asp837Val) c.2069A>T (p.Asp690Val) c.*479A>T (n.*479A>T) n.2777A>T n.2751A>T c.1898A>T (p.Asp633Val) n.2736A>T n.2350A>T n.2560A>T n.2594A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.36754358T>C | CA10020233 | HLCS | c.2510A>G (p.Asp837Gly) c.2069A>G (p.Asp690Gly) c.*479A>G (n.*479A>G) n.2777A>G n.2751A>G c.1898A>G (p.Asp633Gly) n.2736A>G n.2350A>G n.2560A>G n.2594A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |