| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.715725T>C | CA14367694 | VPS53 | c.-282-5112A>G (n.-282-5112A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.715725T= | CA2242459483 | VPS53 | c.-282-5112A= (n.-282-5112A=) | dbSNP |
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.715725T>C | CA14367694 | VPS53 | c.-282-5112A>G (n.-282-5112A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.715725T= | CA2242459483 | VPS53 | c.-282-5112A= (n.-282-5112A=) | dbSNP |