Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
MT | m.13928G>T | CA414820143 | MT-ND5 | c.1592G>T (p.Ser531Ile) | dbSNP |
MT | m.13928G>C | CA337099856 | MT-ND5 | c.1592G>C (p.Ser531Thr) | ClinVar dbSNP |
MT | m.13928G>A | CA337099854 | MT-ND5 | c.1592G>A (p.Ser531Asn) | ClinVar dbSNP |