| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.112838934C>G | CA16028656 | APC | c.3005C>G (n.3005C>G) c.3394C>G (p.Arg1132Gly) c.*3346C>G (n.*3346C>G) c.3286C>G (p.Arg1096Gly) c.3340C>G (p.Arg1114Gly) c.1693C>G c.*2662C>G (n.*2662C>G) c.230+9962C>G c.3370C>G (p.Arg1124Gly) c.3265C>G (p.Arg1089Gly) c.3256C>G (p.Arg1086Gly) c.3217C>G (p.Arg1073Gly) c.3163C>G (p.Arg1055Gly) c.3067C>G (p.Arg1023Gly) c.3037C>G (p.Arg1013Gly) c.2962C>G (p.Arg988Gly) c.2860C>G (p.Arg954Gly) c.2491C>G (p.Arg831Gly) | ClinVar dbSNP gnomAD v4 COSMIC |
| 5 | g.112838934C>T | CA10582306 | APC | c.3005C>T (n.3005C>T) c.3394C>T (p.Arg1132Ter) c.*3346C>T (n.*3346C>T) c.3286C>T (p.Arg1096Ter) c.3340C>T (p.Arg1114Ter) c.1693C>T c.*2662C>T (n.*2662C>T) c.230+9962C>T c.3370C>T (p.Arg1124Ter) c.3265C>T (p.Arg1089Ter) c.3256C>T (p.Arg1086Ter) c.3217C>T (p.Arg1073Ter) c.3163C>T (p.Arg1055Ter) c.3067C>T (p.Arg1023Ter) c.3037C>T (p.Arg1013Ter) c.2962C>T (p.Arg988Ter) c.2860C>T (p.Arg954Ter) c.2491C>T (p.Arg831Ter) | ClinVar dbSNP COSMIC |
| 5 | g.112838934C>A | CA035080 | APC | c.3005C>A (n.3005C>A) c.3394C>A (p.Arg1132=) c.*3346C>A (n.*3346C>A) c.3286C>A (p.Arg1096=) c.3340C>A (p.Arg1114=) c.1693C>A c.*2662C>A (n.*2662C>A) c.230+9962C>A c.3370C>A (p.Arg1124=) c.3265C>A (p.Arg1089=) c.3256C>A (p.Arg1086=) c.3217C>A (p.Arg1073=) c.3163C>A (p.Arg1055=) c.3067C>A (p.Arg1023=) c.3037C>A (p.Arg1013=) c.2962C>A (p.Arg988=) c.2860C>A (p.Arg954=) c.2491C>A (p.Arg831=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |