| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.22276177T>G | CA5923598 | ANO5 | n.515T>G c.2048T>G (p.Met683Arg) c.2456T>G (p.Met819Arg) c.2372+1430T>G (n.2372+1430T>G) n.3492T>G c.2453T>G (p.Met818Arg) c.2498T>G (p.Met833Arg) n.2833T>G c.2495T>G (p.Met832Arg) c.2420T>G (p.Met807Arg) c.2417T>G (p.Met806Arg) c.2405T>G (p.Met802Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.22276177T>A | CA5923597 | ANO5 | n.515T>A c.2048T>A (p.Met683Lys) c.2456T>A (p.Met819Lys) c.2372+1430T>A (n.2372+1430T>A) n.3492T>A c.2453T>A (p.Met818Lys) c.2498T>A (p.Met833Lys) n.2833T>A c.2495T>A (p.Met832Lys) c.2420T>A (p.Met807Lys) c.2417T>A (p.Met806Lys) c.2405T>A (p.Met802Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |