| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.5233991C>T | CA472885870 | HBD | c.315G>A (p.Arg105=) c.92+351G>A (n.92+351G>A) | dbSNP gnomAD v4 |
| 11 | g.5233991C>A | CA124705 | HBD | c.315G>T (p.Arg105Ser) c.92+351G>T (n.92+351G>T) | ClinVar dbSNP |
| 11 | g.5233991C= | CA1949564854 | HBD | c.315G= (p.Arg105=) c.92+351G= (n.92+351G=) | dbSNP |