| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.45369364C>T | CA340668 | GATM | c.446G>A (p.Trp149Ter) c.386G>A (p.Trp129Ter) n.537G>A c.*1177G>A (n.*1177G>A) c.227G>A (p.Trp76Ter) n.2102G>A c.59G>A (p.Trp20Ter) n.344G>A c.494G>A (p.Trp165Ter) c.488G>A (p.Trp163Ter) | ClinVar dbSNP gnomAD v4 |
| 15 | g.45369364C>A | CA7542936 | GATM | c.446G>T (p.Trp149Leu) c.386G>T (p.Trp129Leu) n.537G>T c.*1177G>T (n.*1177G>T) c.227G>T (p.Trp76Leu) n.2102G>T c.59G>T (p.Trp20Leu) n.344G>T c.494G>T (p.Trp165Leu) c.488G>T (p.Trp163Leu) | dbSNP ExAC gnomAD v2 COSMIC |