| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.54191536C>T | CA339948 | TSEN34 | c.172C>T (p.Arg58Trp) c.181C>T (p.Arg61Trp) n.1194C>T | ClinVar dbSNP |
| 19 | g.54191536C= | CA2342739693 | TSEN34 | c.172C= (p.Arg58=) c.181C= (p.Arg61=) n.1194C= | dbSNP |
| 19 | g.54191536C>G | CA407762200 | TSEN34 | c.172C>G (p.Arg58Gly) c.181C>G (p.Arg61Gly) n.1194C>G | dbSNP gnomAD v4 |