| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.45220183C>T | CA14609152 | SLC14A2 | c.-125+6992C>T (n.-125+6992C>T) c.-251+6992C>T (n.-251+6992C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.45220183C= | CA2300269857 | SLC14A2 | c.-125+6992C= (n.-125+6992C=) c.-251+6992C= (n.-251+6992C=) | dbSNP |