| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.40395144G>A | CA117085 | PRX | c.3208C>T (p.Arg1070Ter) c.2791C>T (p.Arg931Ter) c.3493C>T (p.Arg1165Ter) c.3083C>T c.3069C>T c.3170C>T c.3095C>T c.*3413C>T (n.*3413C>T) c.3106C>T (p.Arg1036Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.40395144G>C | CA405894726 | PRX | c.3208C>G (p.Arg1070Gly) c.2791C>G (p.Arg931Gly) c.3493C>G (p.Arg1165Gly) c.3083C>G c.3069C>G c.3170C>G c.3095C>G c.*3413C>G (n.*3413C>G) c.3106C>G (p.Arg1036Gly) | dbSNP gnomAD v4 |