| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.11792317del | CA16044130 | MTHFR | c.1716del (p.Lys572AsnfsTer13) c.1593del (p.Lys531AsnfsTer13) c.1713del (p.Lys571AsnfsTer13) c.*1105del (n.*1105del) n.1962del n.2110del c.858del (p.Lys286AsnfsTer13) c.1347del (p.Lys449AsnfsTer13) n.2694del | ClinVar dbSNP |
| 1 | g.11792317C= | CA1141347942 | MTHFR | c.1716G= (p.Lys572=) c.1593G= (p.Lys531=) c.1713G= (p.Lys571=) c.*1105G= (n.*1105G=) n.1962G= n.2110G= c.858G= (p.Lys286=) c.1347G= (p.Lys449=) n.2694G= | dbSNP dbSNP |