| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.124403820C>T | CA5733450 | OAT | c.749G>A (p.Arg250Gln) n.550G>A c.335G>A (p.Arg112Gln) c.428G>A (p.Arg143Gln) c.149G>A (p.Arg50Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.124403820C>G | CA113978 | OAT | c.749G>C (p.Arg250Pro) n.550G>C c.335G>C (p.Arg112Pro) c.428G>C (p.Arg143Pro) c.149G>C (p.Arg50Pro) | ClinVar dbSNP |
| 10 | g.124403820C>A | CA378635739 | OAT | c.749G>T (p.Arg250Leu) n.550G>T c.335G>T (p.Arg112Leu) c.428G>T (p.Arg143Leu) c.149G>T (p.Arg50Leu) | dbSNP gnomAD v4 |