| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.101764236C>T | CA340014 | GNPTAB | c.2681G>A (p.Trp894Ter) c.2600G>A (p.Trp867Ter) c.2465G>A (p.Trp822Ter) c.1454G>A (p.Trp485Ter) | ClinVar dbSNP gnomAD v4 |
| 12 | g.101764236C>G | CA386297468 | GNPTAB | c.2681G>C (p.Trp894Ser) c.2600G>C (p.Trp867Ser) c.2465G>C (p.Trp822Ser) c.1454G>C (p.Trp485Ser) | dbSNP |
| 12 | g.101764236C= | CA2058955319 | GNPTAB | c.2681G= (p.Trp894=) c.2600G= (p.Trp867=) c.2465G= (p.Trp822=) c.1454G= (p.Trp485=) | dbSNP |