| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.90810996C>T | CA270124 | ADGRV1 | c.15736C>T (p.Arg5246Ter) c.4690C>T (p.Arg1564Ter) n.3003C>T c.265+134787C>T (n.265+134787C>T) c.2146C>T (p.Arg716Ter) c.2719C>T (p.Arg907Ter) n.15749C>T c.15733C>T (p.Arg5245Ter) c.15655C>T (p.Arg5219Ter) c.13039C>T (p.Arg4347Ter) c.15757C>T (p.Arg5253Ter) c.15754C>T (p.Arg5252Ter) c.15676C>T (p.Arg5226Ter) c.15661C>T (p.Arg5221Ter) c.15577C>T (p.Arg5193Ter) c.8875C>T (p.Arg2959Ter) c.8854C>T (p.Arg2952Ter) n.15752C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.90810996C= | CA1562908479 | ADGRV1 | c.15736C= (p.Arg5246=) c.4690C= (p.Arg1564=) n.3003C= c.265+134787C= (n.265+134787C=) c.2146C= (p.Arg716=) c.2719C= (p.Arg907=) n.15749C= c.15733C= (p.Arg5245=) c.15655C= (p.Arg5219=) c.13039C= (p.Arg4347=) c.15757C= (p.Arg5253=) c.15754C= (p.Arg5252=) c.15676C= (p.Arg5226=) c.15661C= (p.Arg5221=) c.15577C= (p.Arg5193=) c.8875C= (p.Arg2959=) c.8854C= (p.Arg2952=) n.15752C= | dbSNP |