| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.101770518C>A | CA343332 | GNPTAB | c.1001G>T (p.Arg334Leu) c.920G>T (p.Arg307Leu) c.785G>T (p.Arg262Leu) c.-227G>T (n.-227G>T) | ClinVar dbSNP gnomAD v4 |
| 12 | g.101770518C>T | CA343331 | GNPTAB | c.1001G>A (p.Arg334Gln) c.920G>A (p.Arg307Gln) c.785G>A (p.Arg262Gln) c.-227G>A (n.-227G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.101770518C= | CA2058958019 | GNPTAB | c.1001G= (p.Arg334=) c.920G= (p.Arg307=) c.785G= (p.Arg262=) c.-227G= (n.-227G=) | dbSNP |