Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
18 | g.45234191C>T | CA779685985 | SLC14A2 | c.-125+21000C>T (n.-125+21000C>T) c.-251+21000C>T (n.-251+21000C>T) | dbSNP gnomAD v3 gnomAD v4 |
18 | g.45234191C>A | CA15928675 | SLC14A2 | c.-125+21000C>A (n.-125+21000C>A) c.-251+21000C>A (n.-251+21000C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |