| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.46390418T>A | CA411942810 | CELSR1 | c.6319A>T (p.Ile2107Phe) n.1396A>T c.2812A>T (p.Ile938Phe) c.2716A>T (p.Ile906Phe) | dbSNP gnomAD v2 |
| 22 | g.46390418T>C | CA10293856 | CELSR1 | c.6319A>G (p.Ile2107Val) n.1396A>G c.2812A>G (p.Ile938Val) c.2716A>G (p.Ile906Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |