Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.64415662A>G | CA7225929 | MTHFD1 | n.550A>G c.158A>G (p.Lys53Arg) c.401A>G (p.Lys134Arg) n.476A>G n.25A>G c.569A>G (p.Lys190Arg) n.458A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.64415662A>C | CA389973868 | MTHFD1 | n.550A>C c.158A>C (p.Lys53Thr) c.401A>C (p.Lys134Thr) n.476A>C n.25A>C c.569A>C (p.Lys190Thr) n.458A>C | dbSNP |
14 | g.64415662A>T | CA389973871 | MTHFD1 | n.550A>T c.158A>T (p.Lys53Ile) c.401A>T (p.Lys134Ile) n.476A>T n.25A>T c.569A>T (p.Lys190Ile) n.458A>T | dbSNP |