| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.1401329T>G | CA254380 | GAMT | c.148A>C (p.Met50Leu) c.112+36A>C (n.112+36A>C) | ClinVar dbSNP gnomAD v4 |
| 19 | g.1401329T>C | CA402998064 | GAMT | c.148A>G (p.Met50Val) c.112+36A>G (n.112+36A>G) | dbSNP gnomAD v4 |
| 19 | g.1401329T= | CA2317700396 | GAMT | c.148A= (p.Met50=) c.112+36A= (n.112+36A=) | dbSNP |