| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.90985501A>G | CA253960 | ADGRV1 | c.18131A>G (p.Tyr6044Cys) c.7085A>G (p.Tyr2362Cys) n.5398A>G c.1343A>G c.423A>G (n.423A>G) c.215A>G (p.Tyr72Cys) c.4580A>G (n.4580A>G) c.5114A>G (p.Tyr1705Cys) n.18144A>G c.18128A>G (p.Tyr6043Cys) c.18050A>G (p.Tyr6017Cys) c.15434A>G (p.Tyr5145Cys) c.18152A>G (p.Tyr6051Cys) c.18149A>G (p.Tyr6050Cys) c.18071A>G (p.Tyr6024Cys) c.18056A>G (p.Tyr6019Cys) c.17972A>G (p.Tyr5991Cys) c.11270A>G (p.Tyr3757Cys) c.11249A>G (p.Tyr3750Cys) n.18147A>G | ClinVar dbSNP gnomAD v4 |
| 5 | g.90985501A= | CA1562990543 | ADGRV1 | c.18131A= (p.Tyr6044=) c.7085A= (p.Tyr2362=) n.5398A= c.1343A= c.423A= (n.423A=) c.215A= (p.Tyr72=) c.4580A= (n.4580A=) c.5114A= (p.Tyr1705=) n.18144A= c.18128A= (p.Tyr6043=) c.18050A= (p.Tyr6017=) c.15434A= (p.Tyr5145=) c.18152A= (p.Tyr6051=) c.18149A= (p.Tyr6050=) c.18071A= (p.Tyr6024=) c.18056A= (p.Tyr6019=) c.17972A= (p.Tyr5991=) c.11270A= (p.Tyr3757=) c.11249A= (p.Tyr3750=) n.18147A= | dbSNP |