| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.35503816A>G | CA254156 | TULP1 | c.1145T>C (p.Phe382Ser) c.986T>C (p.Phe329Ser) n.747T>C n.321T>C n.162T>C c.1139T>C (p.Phe380Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.35503816A>T | CA363779410 | TULP1 | c.1145T>A (p.Phe382Tyr) c.986T>A (p.Phe329Tyr) n.747T>A n.321T>A n.162T>A c.1139T>A (p.Phe380Tyr) | dbSNP |
| 6 | g.35503816A= | CA1620922266 | TULP1 | c.1145T= (p.Phe382=) c.986T= (p.Phe329=) n.747T= n.321T= n.162T= c.1139T= (p.Phe380=) | dbSNP |