Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.87968411T>C | CA390747950 | GALC | c.832A>G (p.Thr278Ala) c.763A>G (p.Thr255Ala) c.754A>G (p.Thr252Ala) n.822A>G n.587A>G c.664A>G (p.Thr222Ala) c.199A>G (p.Thr67Ala) c.*230A>G (n.*230A>G) c.822A>G | ClinVar dbSNP |
14 | g.87968411T>G | CA10604515 | GALC | c.832A>C (p.Thr278Pro) c.763A>C (p.Thr255Pro) c.754A>C (p.Thr252Pro) n.822A>C n.587A>C c.664A>C (p.Thr222Pro) c.199A>C (p.Thr67Pro) c.*230A>C (n.*230A>C) c.822A>C | ClinVar dbSNP gnomAD v4 |