| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.20601429G>A | CA5921035 | SLC6A5 | c.304G>A (p.Gly102Ser) c.-260G>A (n.-260G>A) c.-57+1754G>A (n.-57+1754G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.20601429G>T | CA379911913 | SLC6A5 | c.304G>T (p.Gly102Cys) c.-260G>T (n.-260G>T) c.-57+1754G>T (n.-57+1754G>T) | dbSNP gnomAD v3 gnomAD v4 |