| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.90728720C>T | CA3340708 | ADGRV1 | c.10213C>T (p.Arg3405Ter) c.265+52511C>T (n.265+52511C>T) n.3357C>T n.632C>T c.2910C>T n.10226C>T c.10210C>T (p.Arg3404Ter) c.10132C>T (p.Arg3378Ter) c.7516C>T (p.Arg2506Ter) n.271+12187G>A c.10234C>T (p.Arg3412Ter) c.10231C>T (p.Arg3411Ter) c.10153C>T (p.Arg3385Ter) c.10138C>T (p.Arg3380Ter) c.3352C>T (p.Arg1118Ter) c.3331C>T (p.Arg1111Ter) n.2522+12187G>A n.10229C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.90728720C= | CA1562874885 | ADGRV1 | c.10213C= (p.Arg3405=) c.265+52511C= (n.265+52511C=) n.3357C= n.632C= c.2910C= n.10226C= c.10210C= (p.Arg3404=) c.10132C= (p.Arg3378=) c.7516C= (p.Arg2506=) n.271+12187G= c.10234C= (p.Arg3412=) c.10231C= (p.Arg3411=) c.10153C= (p.Arg3385=) c.10138C= (p.Arg3380=) c.3352C= (p.Arg1118=) c.3331C= (p.Arg1111=) n.2522+12187G= n.10229C= | dbSNP |