| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.101764563A>C | CA267601 | GNPTAB | c.2354T>G (p.Leu785Trp) c.2273T>G (p.Leu758Trp) c.2138T>G (p.Leu713Trp) c.1127T>G (p.Leu376Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101764563A= | CA2058955458 | GNPTAB | c.2354T= (p.Leu785=) c.2273T= (p.Leu758=) c.2138T= (p.Leu713=) c.1127T= (p.Leu376=) | dbSNP |