| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.90692782C>T | CA3339967 | ADGRV1 | c.7129C>T (p.Arg2377Ter) c.265+16573C>T (n.265+16573C>T) n.2588C>T c.936C>T n.273C>T c.4420C>T (p.Arg1474Ter) c.1858C>T n.7142C>T c.7126C>T (p.Arg2376Ter) c.7048C>T (p.Arg2350Ter) c.4432C>T (p.Arg1478Ter) c.7033C>T (p.Arg2345Ter) c.247C>T (p.Arg83Ter) n.7145C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.90692782C>A | CA445404624 | ADGRV1 | c.7129C>A (p.Arg2377=) c.265+16573C>A (n.265+16573C>A) n.2588C>A c.936C>A n.273C>A c.4420C>A (p.Arg1474=) c.1858C>A n.7142C>A c.7126C>A (p.Arg2376=) c.7048C>A (p.Arg2350=) c.4432C>A (p.Arg1478=) c.7033C>A (p.Arg2345=) c.247C>A (p.Arg83=) n.7145C>A | dbSNP gnomAD v4 |
| 5 | g.90692782C= | CA1562859328 | ADGRV1 | c.7129C= (p.Arg2377=) c.265+16573C= (n.265+16573C=) n.2588C= c.936C= n.273C= c.4420C= (p.Arg1474=) c.1858C= n.7142C= c.7126C= (p.Arg2376=) c.7048C= (p.Arg2350=) c.4432C= (p.Arg1478=) c.7033C= (p.Arg2345=) c.247C= (p.Arg83=) n.7145C= | dbSNP |