| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.90853314T>G | CA16603198 | ADGRV1 | c.17235T>G (p.Tyr5745Ter) c.6189T>G (p.Tyr2063Ter) n.426T>G n.4502T>G c.447T>G c.266-132030T>G (n.266-132030T>G) c.3684T>G (n.3684T>G) c.4218T>G (p.Tyr1406Ter) n.17248T>G c.17232T>G (p.Tyr5744Ter) c.17154T>G (p.Tyr5718Ter) c.14538T>G (p.Tyr4846Ter) c.17256T>G (p.Tyr5752Ter) c.17253T>G (p.Tyr5751Ter) c.17175T>G (p.Tyr5725Ter) c.17160T>G (p.Tyr5720Ter) c.17076T>G (p.Tyr5692Ter) c.10374T>G (p.Tyr3458Ter) c.10353T>G (p.Tyr3451Ter) n.17251T>G | ClinVar dbSNP gnomAD v4 |
| 5 | g.90853314T= | CA1562931276 | ADGRV1 | c.17235T= (p.Tyr5745=) c.6189T= (p.Tyr2063=) n.426T= n.4502T= c.447T= c.266-132030T= (n.266-132030T=) c.3684T= (n.3684T=) c.4218T= (p.Tyr1406=) n.17248T= c.17232T= (p.Tyr5744=) c.17154T= (p.Tyr5718=) c.14538T= (p.Tyr4846=) c.17256T= (p.Tyr5752=) c.17253T= (p.Tyr5751=) c.17175T= (p.Tyr5725=) c.17160T= (p.Tyr5720=) c.17076T= (p.Tyr5692=) c.10374T= (p.Tyr3458=) c.10353T= (p.Tyr3451=) n.17251T= | dbSNP |