| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.1399793C>T | CA314804 | GAMT | c.327G>A (p.Lys109=) c.10G>A c.258G>A (p.Lys86=) c.12G>A (p.Lys4=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.1399793C>G | CA402996030 | GAMT | c.327G>C (p.Lys109Asn) c.10G>C c.258G>C (p.Lys86Asn) c.12G>C (p.Lys4Asn) | dbSNP |
| 19 | g.1399793C>A | CA402996033 | GAMT | c.327G>T (p.Lys109Asn) c.10G>T c.258G>T (p.Lys86Asn) c.12G>T (p.Lys4Asn) | dbSNP gnomAD v4 COSMIC |
| 19 | g.1399793C= | CA2317699492 | GAMT | c.327G= (p.Lys109=) c.10G= c.258G= (p.Lys86=) c.12G= (p.Lys4=) | dbSNP |