Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.26855854C>G | CA2291645337 | AQP4 | c.*357G>C (n.*357G>C) c.*270G>C (n.*270G>C) | dbSNP |
18 | g.26855854C>T | CA14613566 | AQP4 | c.*357G>A (n.*357G>A) c.*270G>A (n.*270G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |