| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.101780579T>G | CA356552 | GNPTAB | c.614A>C (p.Gln205Pro) c.248A>C (p.Gln83Pro) c.533A>C (p.Gln178Pro) c.398A>C (p.Gln133Pro) c.-737A>C (n.-737A>C) | ClinVar dbSNP |
| 12 | g.101780579T= | CA2058962453 | GNPTAB | c.614A= (p.Gln205=) c.248A= (p.Gln83=) c.533A= (p.Gln178=) c.398A= (p.Gln133=) c.-737A= (n.-737A=) | dbSNP |