| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.16477736G>C | CA251429 | RETREG1 | n.574C>G c.401C>G (p.Ser134Ter) c.127-2502C>G c.623C>G (p.Ser208Ter) c.1082C>G (p.Ser361Ter) c.923C>G (p.Ser308Ter) n.1700C>G n.5470C>G c.*172C>G (n.*172C>G) n.1425C>G c.*225C>G (n.*225C>G) c.-143C>G (n.-143C>G) c.788C>G (p.Ser263Ter) n.3196C>G c.926C>G (p.Ser309Ter) c.503C>G (p.Ser168Ter) n.562C>G c.85C>G c.1046C>G (p.Ser349Ter) c.527C>G (p.Ser176Ter) | ClinVar dbSNP gnomAD v4 |
| 5 | g.16477736G>A | CA3210287 | RETREG1 | n.574C>T c.401C>T (p.Ser134Leu) c.127-2502C>T c.623C>T (p.Ser208Leu) c.1082C>T (p.Ser361Leu) c.923C>T (p.Ser308Leu) n.1700C>T n.5470C>T c.*172C>T (n.*172C>T) n.1425C>T c.*225C>T (n.*225C>T) c.-143C>T (n.-143C>T) c.788C>T (p.Ser263Leu) n.3196C>T c.926C>T (p.Ser309Leu) c.503C>T (p.Ser168Leu) n.562C>T c.85C>T c.1046C>T (p.Ser349Leu) c.527C>T (p.Ser176Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |