| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.112839514T>A | CA008761 | APC | c.3585T>A (n.3585T>A) c.3974T>A (p.Ile1325Lys) c.*3926T>A (n.*3926T>A) c.3866T>A (p.Ile1289Lys) c.3920T>A (p.Ile1307Lys) c.2273T>A c.*3242T>A (n.*3242T>A) c.230+10542T>A c.3950T>A (p.Ile1317Lys) c.3845T>A (p.Ile1282Lys) c.3836T>A (p.Ile1279Lys) c.3797T>A (p.Ile1266Lys) c.3743T>A (p.Ile1248Lys) c.3647T>A (p.Ile1216Lys) c.3617T>A (p.Ile1206Lys) c.3542T>A (p.Ile1181Lys) c.3440T>A (p.Ile1147Lys) c.3071T>A (p.Ile1024Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.112839514T>G | CA16029935 | APC | c.3585T>G (n.3585T>G) c.3974T>G (p.Ile1325Arg) c.*3926T>G (n.*3926T>G) c.3866T>G (p.Ile1289Arg) c.3920T>G (p.Ile1307Arg) c.2273T>G c.*3242T>G (n.*3242T>G) c.230+10542T>G c.3950T>G (p.Ile1317Arg) c.3845T>G (p.Ile1282Arg) c.3836T>G (p.Ile1279Arg) c.3797T>G (p.Ile1266Arg) c.3743T>G (p.Ile1248Arg) c.3647T>G (p.Ile1216Arg) c.3617T>G (p.Ile1206Arg) c.3542T>G (p.Ile1181Arg) c.3440T>G (p.Ile1147Arg) c.3071T>G (p.Ile1024Arg) | ClinVar dbSNP |
| 5 | g.112839514T= | CA1573491198 | APC | c.3585T= (n.3585T=) c.3974T= (p.Ile1325=) c.*3926T= (n.*3926T=) c.3866T= (p.Ile1289=) c.3920T= (p.Ile1307=) c.2273T= c.*3242T= (n.*3242T=) c.230+10542T= c.3950T= (p.Ile1317=) c.3845T= (p.Ile1282=) c.3836T= (p.Ile1279=) c.3797T= (p.Ile1266=) c.3743T= (p.Ile1248=) c.3647T= (p.Ile1216=) c.3617T= (p.Ile1206=) c.3542T= (p.Ile1181=) c.3440T= (p.Ile1147=) c.3071T= (p.Ile1024=) | dbSNP |
| 5 | g.112839514T>C | CA16029934 | APC | c.3585T>C (n.3585T>C) c.3974T>C (p.Ile1325Thr) c.*3926T>C (n.*3926T>C) c.3866T>C (p.Ile1289Thr) c.3920T>C (p.Ile1307Thr) c.2273T>C c.*3242T>C (n.*3242T>C) c.230+10542T>C c.3950T>C (p.Ile1317Thr) c.3845T>C (p.Ile1282Thr) c.3836T>C (p.Ile1279Thr) c.3797T>C (p.Ile1266Thr) c.3743T>C (p.Ile1248Thr) c.3647T>C (p.Ile1216Thr) c.3617T>C (p.Ile1206Thr) c.3542T>C (p.Ile1181Thr) c.3440T>C (p.Ile1147Thr) c.3071T>C (p.Ile1024Thr) | dbSNP gnomAD v4 |