| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.101764721C>A | CA343366 | GNPTAB | c.2196G>T (p.Lys732Asn) c.2115G>T (p.Lys705Asn) c.1980G>T (p.Lys660Asn) c.969G>T (p.Lys323Asn) | ClinVar dbSNP |
| 12 | g.101764721C>T | CA6746460 | GNPTAB | c.2196G>A (p.Lys732=) c.2115G>A (p.Lys705=) c.1980G>A (p.Lys660=) c.969G>A (p.Lys323=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101764721C= | CA2058955518 | GNPTAB | c.2196G= (p.Lys732=) c.2115G= (p.Lys705=) c.1980G= (p.Lys660=) c.969G= (p.Lys323=) | dbSNP |