| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.87986597T>G | CA7297411 | GALC | c.334A>C (p.Thr112Pro) c.265A>C (p.Thr89Pro) c.256A>C (p.Thr86Pro) n.324A>C c.166A>C (p.Thr56Pro) c.*83A>C (n.*83A>C) n.213A>C n.35A>C c.394A>C (n.394A>C) c.324A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.87986597T>C | CA220408 | GALC | c.334A>G (p.Thr112Ala) c.265A>G (p.Thr89Ala) c.256A>G (p.Thr86Ala) n.324A>G c.166A>G (p.Thr56Ala) c.*83A>G (n.*83A>G) n.213A>G n.35A>G c.394A>G (n.394A>G) c.324A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |