Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.118952749A>C | CA12868024 | COLEC10 | c.-60+371A>C (n.-60+371A>C) c.-324+371A>C (n.-324+371A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.118952749A>G | CA1814485279 | COLEC10 | c.-60+371A>G (n.-60+371A>G) c.-324+371A>G (n.-324+371A>G) | dbSNP |