| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.7654516C>G | CA2245900229 | ATP1B2 | c.553-112C>G (n.553-112C>G) c.307-112C>G (n.307-112C>G) c.150-112C>G | dbSNP gnomAD v4 |
| 17 | g.7654516C>T | CA14394775 | ATP1B2 | c.553-112C>T (n.553-112C>T) c.307-112C>T (n.307-112C>T) c.150-112C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.7654516C>A | CA2245900228 | ATP1B2 | c.553-112C>A (n.553-112C>A) c.307-112C>A (n.307-112C>A) c.150-112C>A | dbSNP gnomAD v4 |