| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.112838900C>G | CA16028590 | APC | c.2971C>G (n.2971C>G) c.3360C>G (p.Tyr1120Ter) c.*3312C>G (n.*3312C>G) c.3252C>G (p.Tyr1084Ter) c.3306C>G (p.Tyr1102Ter) c.1659C>G c.*2628C>G (n.*2628C>G) c.230+9928C>G c.3336C>G (p.Tyr1112Ter) c.3231C>G (p.Tyr1077Ter) c.3222C>G (p.Tyr1074Ter) c.3183C>G (p.Tyr1061Ter) c.3129C>G (p.Tyr1043Ter) c.3033C>G (p.Tyr1011Ter) c.3003C>G (p.Tyr1001Ter) c.2928C>G (p.Tyr976Ter) c.2826C>G (p.Tyr942Ter) c.2457C>G (p.Tyr819Ter) | ClinVar dbSNP |
| 5 | g.112838900C>A | CA10584247 | APC | c.2971C>A (n.2971C>A) c.3360C>A (p.Tyr1120Ter) c.*3312C>A (n.*3312C>A) c.3252C>A (p.Tyr1084Ter) c.3306C>A (p.Tyr1102Ter) c.1659C>A c.*2628C>A (n.*2628C>A) c.230+9928C>A c.3336C>A (p.Tyr1112Ter) c.3231C>A (p.Tyr1077Ter) c.3222C>A (p.Tyr1074Ter) c.3183C>A (p.Tyr1061Ter) c.3129C>A (p.Tyr1043Ter) c.3033C>A (p.Tyr1011Ter) c.3003C>A (p.Tyr1001Ter) c.2928C>A (p.Tyr976Ter) c.2826C>A (p.Tyr942Ter) c.2457C>A (p.Tyr819Ter) | ClinVar dbSNP |
| 5 | g.112838900C>T | CA16604771 | APC | c.2971C>T (n.2971C>T) c.3360C>T (p.Tyr1120=) c.*3312C>T (n.*3312C>T) c.3252C>T (p.Tyr1084=) c.3306C>T (p.Tyr1102=) c.1659C>T c.*2628C>T (n.*2628C>T) c.230+9928C>T c.3336C>T (p.Tyr1112=) c.3231C>T (p.Tyr1077=) c.3222C>T (p.Tyr1074=) c.3183C>T (p.Tyr1061=) c.3129C>T (p.Tyr1043=) c.3033C>T (p.Tyr1011=) c.3003C>T (p.Tyr1001=) c.2928C>T (p.Tyr976=) c.2826C>T (p.Tyr942=) c.2457C>T (p.Tyr819=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112838900C= | CA1573487489 | APC | c.2971C= (n.2971C=) c.3360C= (p.Tyr1120=) c.*3312C= (n.*3312C=) c.3252C= (p.Tyr1084=) c.3306C= (p.Tyr1102=) c.1659C= c.*2628C= (n.*2628C=) c.230+9928C= c.3336C= (p.Tyr1112=) c.3231C= (p.Tyr1077=) c.3222C= (p.Tyr1074=) c.3183C= (p.Tyr1061=) c.3129C= (p.Tyr1043=) c.3033C= (p.Tyr1011=) c.3003C= (p.Tyr1001=) c.2928C= (p.Tyr976=) c.2826C= (p.Tyr942=) c.2457C= (p.Tyr819=) | dbSNP |