| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.101796709del | CA343357 | GNPTAB | c.171del (p.Asp58ThrfsTer25) n.291del c.171del (p.Asp58ThrfsTer13) c.171del (p.Asp58ThrfsTer28) c.90del (p.Asp31ThrfsTer25) c.-46del (n.-46del) c.-1180del (n.-1180del) | ClinVar dbSNP |
| 12 | g.101796709T= | CA3191744493 | GNPTAB | c.171A= (p.Arg57=) n.291A= c.90A= (p.Arg30=) c.-46A= (n.-46A=) c.-1180A= (n.-1180A=) | dbSNP dbSNP |