| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.10692805G>A | CA118051 | SCO1 | c.521C>T (p.Pro174Leu) c.*248C>T (n.*248C>T) c.469+52C>T (n.469+52C>T) c.188C>T (p.Pro63Leu) | ClinVar dbSNP gnomAD v4 |
| 17 | g.10692805G= | CA2247358603 | SCO1 | c.521C= (p.Pro174=) c.*248C= (n.*248C=) c.469+52C= (n.469+52C=) c.188C= (p.Pro63=) | dbSNP |