| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.54999208C>T | CA116806 | BSND | c.22C>T (p.Arg8Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.54999208C>A | CA417956507 | BSND | c.22C>A (p.Arg8=) | dbSNP |
| 1 | g.54999208C>G | CA340470501 | BSND | c.22C>G (p.Arg8Gly) | ClinVar dbSNP |
| 1 | g.54999208C= | CA1140886547 | BSND | c.22C= (p.Arg8=) | dbSNP |