| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.112843567G>A | CA16038646 | APC | c.8027G>A (p.Trp2676Ter) c.*7979G>A (n.*7979G>A) c.7919G>A (p.Trp2640Ter) c.7973G>A (p.Trp2658Ter) c.231-13082G>A c.8003G>A (p.Trp2668Ter) c.7898G>A (p.Trp2633Ter) c.7889G>A (p.Trp2630Ter) c.7850G>A (p.Trp2617Ter) c.7796G>A (p.Trp2599Ter) c.7700G>A (p.Trp2567Ter) c.7670G>A (p.Trp2557Ter) c.7595G>A (p.Trp2532Ter) c.7493G>A (p.Trp2498Ter) c.7124G>A (p.Trp2375Ter) | dbSNP |
| 5 | g.112843567G>C | CA16038647 | APC | c.8027G>C (p.Trp2676Ser) c.*7979G>C (n.*7979G>C) c.7919G>C (p.Trp2640Ser) c.7973G>C (p.Trp2658Ser) c.231-13082G>C c.8003G>C (p.Trp2668Ser) c.7898G>C (p.Trp2633Ser) c.7889G>C (p.Trp2630Ser) c.7850G>C (p.Trp2617Ser) c.7796G>C (p.Trp2599Ser) c.7700G>C (p.Trp2567Ser) c.7670G>C (p.Trp2557Ser) c.7595G>C (p.Trp2532Ser) c.7493G>C (p.Trp2498Ser) c.7124G>C (p.Trp2375Ser) | dbSNP gnomAD v4 |
| 5 | g.112843567G>T | CA014213 | APC | c.8027G>T (p.Trp2676Leu) c.*7979G>T (n.*7979G>T) c.7919G>T (p.Trp2640Leu) c.7973G>T (p.Trp2658Leu) c.231-13082G>T c.8003G>T (p.Trp2668Leu) c.7898G>T (p.Trp2633Leu) c.7889G>T (p.Trp2630Leu) c.7850G>T (p.Trp2617Leu) c.7796G>T (p.Trp2599Leu) c.7700G>T (p.Trp2567Leu) c.7670G>T (p.Trp2557Leu) c.7595G>T (p.Trp2532Leu) c.7493G>T (p.Trp2498Leu) c.7124G>T (p.Trp2375Leu) | ClinVar dbSNP |