| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.101753399A>G | CA16609422 | GNPTAB | c.3575T>C (p.Phe1192Ser) c.473T>C (n.473T>C) c.3494T>C (p.Phe1165Ser) c.3359T>C (p.Phe1120Ser) c.2348T>C (p.Phe783Ser) | ClinVar dbSNP |
| 12 | g.101753399A>T | CA386292195 | GNPTAB | c.3575T>A (p.Phe1192Tyr) c.473T>A (n.473T>A) c.3494T>A (p.Phe1165Tyr) c.3359T>A (p.Phe1120Tyr) c.2348T>A (p.Phe783Tyr) | dbSNP gnomAD v4 |
| 12 | g.101753399A= | CA2058950540 | GNPTAB | c.3575T= (p.Phe1192=) c.473T= (n.473T=) c.3494T= (p.Phe1165=) c.3359T= (p.Phe1120=) c.2348T= (p.Phe783=) | dbSNP |