| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.77256371T>C | CA14615900 | GALR1 | c.732+148T>C (n.732+148T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.77256371T>G | CA2315405949 | GALR1 | c.732+148T>G (n.732+148T>G) | dbSNP gnomAD v4 |
| 18 | g.77256371T= | CA2315405946 | GALR1 | c.732+148T= (n.732+148T=) | dbSNP |