| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.90692659C>T | CA270126 | ADGRV1 | c.7006C>T (p.Arg2336Ter) c.265+16450C>T (n.265+16450C>T) n.2465C>T c.813C>T n.150C>T c.4297C>T (p.Arg1433Ter) c.1735C>T n.7019C>T c.7003C>T (p.Arg2335Ter) c.6925C>T (p.Arg2309Ter) c.4309C>T (p.Arg1437Ter) c.6910C>T (p.Arg2304Ter) c.124C>T (p.Arg42Ter) n.7022C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.90692659C>A | CA445404494 | ADGRV1 | c.7006C>A (p.Arg2336=) c.265+16450C>A (n.265+16450C>A) n.2465C>A c.813C>A n.150C>A c.4297C>A (p.Arg1433=) c.1735C>A n.7019C>A c.7003C>A (p.Arg2335=) c.6925C>A (p.Arg2309=) c.4309C>A (p.Arg1437=) c.6910C>A (p.Arg2304=) c.124C>A (p.Arg42=) n.7022C>A | ClinVar dbSNP COSMIC |
| 5 | g.90692659C= | CA1562859268 | ADGRV1 | c.7006C= (p.Arg2336=) c.265+16450C= (n.265+16450C=) n.2465C= c.813C= n.150C= c.4297C= (p.Arg1433=) c.1735C= n.7019C= c.7003C= (p.Arg2335=) c.6925C= (p.Arg2309=) c.4309C= (p.Arg1437=) c.6910C= (p.Arg2304=) c.124C= (p.Arg42=) n.7022C= | dbSNP |