| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.112839169_112841264del | CA645543580 | APC | c.3629_5724del (p.Lys1210ArgfsTer3) c.*3581_*5676del (n.*3581_*5676del) c.3521_5616del (p.Lys1174ArgfsTer3) c.3575_5670del (p.Lys1192ArgfsTer3) c.*2897_*4992del (n.*2897_*4992del) c.230+10197_230+12292del c.3605_5700del (p.Lys1202ArgfsTer3) c.3500_5595del (p.Lys1167ArgfsTer3) c.3491_5586del (p.Lys1164ArgfsTer3) c.3452_5547del (p.Lys1151ArgfsTer3) c.3398_5493del (p.Lys1133ArgfsTer3) c.3302_5397del (p.Lys1101ArgfsTer3) c.3272_5367del (p.Lys1091ArgfsTer3) c.3197_5292del (p.Lys1066ArgfsTer3) c.3095_5190del (p.Lys1032ArgfsTer3) c.2726_4821del (p.Lys909ArgfsTer3) | COSMIC |
| 5 | g.112839510_112839515delinsGAAATA | CA1573491165 | APC | c.3581_3586delinsGAAATA (n.3581_3586delinsGAAATA) c.3970_3975delinsGAAATA (p.Glu1324=) c.*3922_*3927delinsGAAATA (n.*3922_*3927delinsGAAATA) c.3862_3867delinsGAAATA (p.Glu1288=) c.3916_3921delinsGAAATA (p.Glu1306=) c.2269_2274delinsGAAATA c.*3238_*3243delinsGAAATA (n.*3238_*3243delinsGAAATA) c.230+10538_230+10543delinsGAAATA c.3946_3951delinsGAAATA (p.Glu1316=) c.3841_3846delinsGAAATA (p.Glu1281=) c.3832_3837delinsGAAATA (p.Glu1278=) c.3793_3798delinsGAAATA (p.Glu1265=) c.3739_3744delinsGAAATA (p.Glu1247=) c.3643_3648delinsGAAATA (p.Glu1215=) c.3613_3618delinsGAAATA (p.Glu1205=) c.3538_3543delinsGAAATA (p.Glu1180=) c.3436_3441delinsGAAATA (p.Glu1146=) c.3067_3072delinsGAAATA (p.Glu1023=) | |
| 5 | g.112839514_112839517del | CA658760609 | APC | c.3585_3588del (n.3585_3588del) c.3974_3977del (p.Ile1325LysfsTer13) c.*3926_*3929del (n.*3926_*3929del) c.3866_3869del (p.Ile1289LysfsTer13) c.3920_3923del (p.Ile1307LysfsTer13) c.2273_2276del c.*3242_*3245del (n.*3242_*3245del) c.230+10542_230+10545del c.3950_3953del (p.Ile1317LysfsTer13) c.3845_3848del (p.Ile1282LysfsTer13) c.3836_3839del (p.Ile1279LysfsTer13) c.3797_3800del (p.Ile1266LysfsTer13) c.3743_3746del (p.Ile1248LysfsTer13) c.3647_3650del (p.Ile1216LysfsTer13) c.3617_3620del (p.Ile1206LysfsTer13) c.3542_3545del (p.Ile1181LysfsTer13) c.3440_3443del (p.Ile1147LysfsTer13) c.3071_3074del (p.Ile1024LysfsTer13) | ClinVar dbSNP |
| 5 | g.112839514_112839518del | CA16618084 | APC | c.3585_3589del (n.3585_3589del) c.3974_3978del (p.Ile1325ArgfsTer6) c.*3926_*3930del (n.*3926_*3930del) c.3866_3870del (p.Ile1289ArgfsTer6) c.3920_3924del (p.Ile1307ArgfsTer6) c.2273_2277del c.*3242_*3246del (n.*3242_*3246del) c.230+10542_230+10546del c.3950_3954del (p.Ile1317ArgfsTer6) c.3845_3849del (p.Ile1282ArgfsTer6) c.3836_3840del (p.Ile1279ArgfsTer6) c.3797_3801del (p.Ile1266ArgfsTer6) c.3743_3747del (p.Ile1248ArgfsTer6) c.3647_3651del (p.Ile1216ArgfsTer6) c.3617_3621del (p.Ile1206ArgfsTer6) c.3542_3546del (p.Ile1181ArgfsTer6) c.3440_3444del (p.Ile1147ArgfsTer6) c.3071_3075del (p.Ile1024ArgfsTer6) | ClinVar dbSNP COSMIC COSMIC |
| 5 | g.112839513_112839515delinsTT | CA645543649 | APC | c.3584_3586delinsTT (n.3584_3586delinsTT) c.3973_3975delinsTT (p.Ile1325LeufsTer14) c.*3925_*3927delinsTT (n.*3925_*3927delinsTT) c.3865_3867delinsTT (p.Ile1289LeufsTer14) c.3919_3921delinsTT (p.Ile1307LeufsTer14) c.2272_2274delinsTT c.*3241_*3243delinsTT (n.*3241_*3243delinsTT) c.230+10541_230+10543delinsTT c.3949_3951delinsTT (p.Ile1317LeufsTer14) c.3844_3846delinsTT (p.Ile1282LeufsTer14) c.3835_3837delinsTT (p.Ile1279LeufsTer14) c.3796_3798delinsTT (p.Ile1266LeufsTer14) c.3742_3744delinsTT (p.Ile1248LeufsTer14) c.3646_3648delinsTT (p.Ile1216LeufsTer14) c.3616_3618delinsTT (p.Ile1206LeufsTer14) c.3541_3543delinsTT (p.Ile1181LeufsTer14) c.3439_3441delinsTT (p.Ile1147LeufsTer14) c.3070_3072delinsTT (p.Ile1024LeufsTer14) | COSMIC |
| 5 | g.112839514_112839515del | CA645543650 | APC | c.3585_3586del (n.3585_3586del) c.3974_3975del (p.Ile1325LysfsTer7) c.*3926_*3927del (n.*3926_*3927del) c.3866_3867del (p.Ile1289LysfsTer7) c.3920_3921del (p.Ile1307LysfsTer7) c.2273_2274del c.*3242_*3243del (n.*3242_*3243del) c.230+10542_230+10543del c.3950_3951del (p.Ile1317LysfsTer7) c.3845_3846del (p.Ile1282LysfsTer7) c.3836_3837del (p.Ile1279LysfsTer7) c.3797_3798del (p.Ile1266LysfsTer7) c.3743_3744del (p.Ile1248LysfsTer7) c.3647_3648del (p.Ile1216LysfsTer7) c.3617_3618del (p.Ile1206LysfsTer7) c.3542_3543del (p.Ile1181LysfsTer7) c.3440_3441del (p.Ile1147LysfsTer7) c.3071_3072del (p.Ile1024LysfsTer7) | ClinVar COSMIC |
| 5 | g.112839514_112839518delinsTAAAA | CA1573491200 | APC | c.3585_3589delinsTAAAA (n.3585_3589delinsTAAAA) c.3974_3978delinsTAAAA (p.Ile1325=) c.*3926_*3930delinsTAAAA (n.*3926_*3930delinsTAAAA) c.3866_3870delinsTAAAA (p.Ile1289=) c.3920_3924delinsTAAAA (p.Ile1307=) c.2273_2277delinsTAAAA c.*3242_*3246delinsTAAAA (n.*3242_*3246delinsTAAAA) c.230+10542_230+10546delinsTAAAA c.3950_3954delinsTAAAA (p.Ile1317=) c.3845_3849delinsTAAAA (p.Ile1282=) c.3836_3840delinsTAAAA (p.Ile1279=) c.3797_3801delinsTAAAA (p.Ile1266=) c.3743_3747delinsTAAAA (p.Ile1248=) c.3647_3651delinsTAAAA (p.Ile1216=) c.3617_3621delinsTAAAA (p.Ile1206=) c.3542_3546delinsTAAAA (p.Ile1181=) c.3440_3444delinsTAAAA (p.Ile1147=) c.3071_3075delinsTAAAA (p.Ile1024=) | |
| 5 | g.112839514_112839519delinsTAAAAG | CA1573491204 | APC | c.3585_3590delinsTAAAAG (n.3585_3590delinsTAAAAG) c.3974_3979delinsTAAAAG (p.Ile1325=) c.*3926_*3931delinsTAAAAG (n.*3926_*3931delinsTAAAAG) c.3866_3871delinsTAAAAG (p.Ile1289=) c.3920_3925delinsTAAAAG (p.Ile1307=) c.2273_2278delinsTAAAAG c.*3242_*3247delinsTAAAAG (n.*3242_*3247delinsTAAAAG) c.230+10542_230+10547delinsTAAAAG c.3950_3955delinsTAAAAG (p.Ile1317=) c.3845_3850delinsTAAAAG (p.Ile1282=) c.3836_3841delinsTAAAAG (p.Ile1279=) c.3797_3802delinsTAAAAG (p.Ile1266=) c.3743_3748delinsTAAAAG (p.Ile1248=) c.3647_3652delinsTAAAAG (p.Ile1216=) c.3617_3622delinsTAAAAG (p.Ile1206=) c.3542_3547delinsTAAAAG (p.Ile1181=) c.3440_3445delinsTAAAAG (p.Ile1147=) c.3071_3076delinsTAAAAG (p.Ile1024=) | |
| 5 | g.112839515A= | CA1573491220 | APC | c.3586A= (n.3586A=) c.3975A= (p.Ile1325=) c.*3927A= (n.*3927A=) c.3867A= (p.Ile1289=) c.3921A= (p.Ile1307=) c.2274A= c.*3243A= (n.*3243A=) c.230+10543A= c.3951A= (p.Ile1317=) c.3846A= (p.Ile1282=) c.3837A= (p.Ile1279=) c.3798A= (p.Ile1266=) c.3744A= (p.Ile1248=) c.3648A= (p.Ile1216=) c.3618A= (p.Ile1206=) c.3543A= (p.Ile1181=) c.3441A= (p.Ile1147=) c.3072A= (p.Ile1024=) | |
| 5 | g.112839515A>C | CA445963885 | APC | c.3586A>C (n.3586A>C) c.3975A>C (p.Ile1325=) c.*3927A>C (n.*3927A>C) c.3867A>C (p.Ile1289=) c.3921A>C (p.Ile1307=) c.2274A>C c.*3243A>C (n.*3243A>C) c.230+10543A>C c.3951A>C (p.Ile1317=) c.3846A>C (p.Ile1282=) c.3837A>C (p.Ile1279=) c.3798A>C (p.Ile1266=) c.3744A>C (p.Ile1248=) c.3648A>C (p.Ile1216=) c.3618A>C (p.Ile1206=) c.3543A>C (p.Ile1181=) c.3441A>C (p.Ile1147=) c.3072A>C (p.Ile1024=) | |
| 5 | g.112839515A>G | CA16029936 | APC | c.3586A>G (n.3586A>G) c.3975A>G (p.Ile1325Met) c.*3927A>G (n.*3927A>G) c.3867A>G (p.Ile1289Met) c.3921A>G (p.Ile1307Met) c.2274A>G c.*3243A>G (n.*3243A>G) c.230+10543A>G c.3951A>G (p.Ile1317Met) c.3846A>G (p.Ile1282Met) c.3837A>G (p.Ile1279Met) c.3798A>G (p.Ile1266Met) c.3744A>G (p.Ile1248Met) c.3648A>G (p.Ile1216Met) c.3618A>G (p.Ile1206Met) c.3543A>G (p.Ile1181Met) c.3441A>G (p.Ile1147Met) c.3072A>G (p.Ile1024Met) | |
| 5 | g.112839515A>T | CA445963883 | APC | c.3586A>T (n.3586A>T) c.3975A>T (p.Ile1325=) c.*3927A>T (n.*3927A>T) c.3867A>T (p.Ile1289=) c.3921A>T (p.Ile1307=) c.2274A>T c.*3243A>T (n.*3243A>T) c.230+10543A>T c.3951A>T (p.Ile1317=) c.3846A>T (p.Ile1282=) c.3837A>T (p.Ile1279=) c.3798A>T (p.Ile1266=) c.3744A>T (p.Ile1248=) c.3648A>T (p.Ile1216=) c.3618A>T (p.Ile1206=) c.3543A>T (p.Ile1181=) c.3441A>T (p.Ile1147=) c.3072A>T (p.Ile1024=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112839515_112839518del | CA337468 | APC | c.3586_3589del (n.3586_3589del) c.3975_3978del (p.Ile1325MetfsTer13) c.*3927_*3930del (n.*3927_*3930del) c.3867_3870del (p.Ile1289MetfsTer13) c.3921_3924del (p.Ile1307MetfsTer13) c.2274_2277del c.*3243_*3246del (n.*3243_*3246del) c.230+10543_230+10546del c.3951_3954del (p.Ile1317MetfsTer13) c.3846_3849del (p.Ile1282MetfsTer13) c.3837_3840del (p.Ile1279MetfsTer13) c.3798_3801del (p.Ile1266MetfsTer13) c.3744_3747del (p.Ile1248MetfsTer13) c.3648_3651del (p.Ile1216MetfsTer13) c.3618_3621del (p.Ile1206MetfsTer13) c.3543_3546del (p.Ile1181MetfsTer13) c.3441_3444del (p.Ile1147MetfsTer13) c.3072_3075del (p.Ile1024MetfsTer13) | ClinVar dbSNP COSMIC |
| 5 | g.112839518dup | CA445963881 | APC | c.3589dup (n.3589dup) c.3978dup (p.Glu1327ArgfsTer6) c.*3930dup (n.*3930dup) c.3870dup (p.Glu1291ArgfsTer6) c.3924dup (p.Glu1309ArgfsTer6) c.2277dup c.*3246dup (n.*3246dup) c.230+10546dup c.3954dup (p.Glu1319ArgfsTer6) c.3849dup (p.Glu1284ArgfsTer6) c.3840dup (p.Glu1281ArgfsTer6) c.3801dup (p.Glu1268ArgfsTer6) c.3747dup (p.Glu1250ArgfsTer6) c.3651dup (p.Glu1218ArgfsTer6) c.3621dup (p.Glu1208ArgfsTer6) c.3546dup (p.Glu1183ArgfsTer6) c.3444dup (p.Glu1149ArgfsTer6) c.3075dup (p.Glu1026ArgfsTer6) | COSMIC COSMIC COSMIC |
| 5 | g.112839518del | CA658760613 | APC | c.3589del (n.3589del) c.3978del (p.Glu1327LysfsTer12) c.*3930del (n.*3930del) c.3870del (p.Glu1291LysfsTer12) c.3924del (p.Glu1309LysfsTer12) c.2277del c.*3246del (n.*3246del) c.230+10546del c.3954del (p.Glu1319LysfsTer12) c.3849del (p.Glu1284LysfsTer12) c.3840del (p.Glu1281LysfsTer12) c.3801del (p.Glu1268LysfsTer12) c.3747del (p.Glu1250LysfsTer12) c.3651del (p.Glu1218LysfsTer12) c.3621del (p.Glu1208LysfsTer12) c.3546del (p.Glu1183LysfsTer12) c.3444del (p.Glu1149LysfsTer12) c.3075del (p.Glu1026LysfsTer12) | ClinVar |
| 5 | g.112839517_112839518del | CA645543654 | APC | c.3588_3589del (n.3588_3589del) c.3977_3978del (p.Lys1326ArgfsTer6) c.*3929_*3930del (n.*3929_*3930del) c.3869_3870del (p.Lys1290ArgfsTer6) c.3923_3924del (p.Lys1308ArgfsTer6) c.2276_2277del c.*3245_*3246del (n.*3245_*3246del) c.230+10545_230+10546del c.3953_3954del (p.Lys1318ArgfsTer6) c.3848_3849del (p.Lys1283ArgfsTer6) c.3839_3840del (p.Lys1280ArgfsTer6) c.3800_3801del (p.Lys1267ArgfsTer6) c.3746_3747del (p.Lys1249ArgfsTer6) c.3650_3651del (p.Lys1217ArgfsTer6) c.3620_3621del (p.Lys1207ArgfsTer6) c.3545_3546del (p.Lys1182ArgfsTer6) c.3443_3444del (p.Lys1148ArgfsTer6) c.3074_3075del (p.Lys1025ArgfsTer6) | COSMIC COSMIC |
| 5 | g.112839515_112839519delinsAAAAG | CA1573491218 | APC | c.3586_3590delinsAAAAG (n.3586_3590delinsAAAAG) c.3975_3979delinsAAAAG (p.Ile1325=) c.*3927_*3931delinsAAAAG (n.*3927_*3931delinsAAAAG) c.3867_3871delinsAAAAG (p.Ile1289=) c.3921_3925delinsAAAAG (p.Ile1307=) c.2274_2278delinsAAAAG c.*3243_*3247delinsAAAAG (n.*3243_*3247delinsAAAAG) c.230+10543_230+10547delinsAAAAG c.3951_3955delinsAAAAG (p.Ile1317=) c.3846_3850delinsAAAAG (p.Ile1282=) c.3837_3841delinsAAAAG (p.Ile1279=) c.3798_3802delinsAAAAG (p.Ile1266=) c.3744_3748delinsAAAAG (p.Ile1248=) c.3648_3652delinsAAAAG (p.Ile1216=) c.3618_3622delinsAAAAG (p.Ile1206=) c.3543_3547delinsAAAAG (p.Ile1181=) c.3441_3445delinsAAAAG (p.Ile1147=) c.3072_3076delinsAAAAG (p.Ile1024=) | |
| 5 | g.112839518_112839523del | CA658760614 | APC | c.3589_3594del (n.3589_3594del) c.3978_3983del (p.Glu1327_Lys1328del) c.*3930_*3935del (n.*3930_*3935del) c.3870_3875del (p.Glu1291_Lys1292del) c.3924_3929del (p.Glu1309_Lys1310del) c.2277_2282del c.*3246_*3251del (n.*3246_*3251del) c.230+10546_230+10551del c.3954_3959del (p.Glu1319_Lys1320del) c.3849_3854del (p.Glu1284_Lys1285del) c.3840_3845del (p.Glu1281_Lys1282del) c.3801_3806del (p.Glu1268_Lys1269del) c.3747_3752del (p.Glu1250_Lys1251del) c.3651_3656del (p.Glu1218_Lys1219del) c.3621_3626del (p.Glu1208_Lys1209del) c.3546_3551del (p.Glu1183_Lys1184del) c.3444_3449del (p.Glu1149_Lys1150del) c.3075_3080del (p.Glu1026_Lys1027del) | |
| 5 | g.112839517_112839523del | CA2695205227 | APC | c.3588_3594del (n.3588_3594del) c.3977_3983del (p.Lys1326ArgfsTer11) c.*3929_*3935del (n.*3929_*3935del) c.3869_3875del (p.Lys1290ArgfsTer11) c.3923_3929del (p.Lys1308ArgfsTer11) c.2276_2282del c.*3245_*3251del (n.*3245_*3251del) c.230+10545_230+10551del c.3953_3959del (p.Lys1318ArgfsTer11) c.3848_3854del (p.Lys1283ArgfsTer11) c.3839_3845del (p.Lys1280ArgfsTer11) c.3800_3806del (p.Lys1267ArgfsTer11) c.3746_3752del (p.Lys1249ArgfsTer11) c.3650_3656del (p.Lys1217ArgfsTer11) c.3620_3626del (p.Lys1207ArgfsTer11) c.3545_3551del (p.Lys1182ArgfsTer11) c.3443_3449del (p.Lys1148ArgfsTer11) c.3074_3080del (p.Lys1025ArgfsTer11) | |
| 5 | g.112839516_112839523del | CA645543653 | APC | c.3587_3594del (n.3587_3594del) c.3976_3983del (p.Lys1326AspfsTer4) c.*3928_*3935del (n.*3928_*3935del) c.3868_3875del (p.Lys1290AspfsTer4) c.3922_3929del (p.Lys1308AspfsTer4) c.2275_2282del c.*3244_*3251del (n.*3244_*3251del) c.230+10544_230+10551del c.3952_3959del (p.Lys1318AspfsTer4) c.3847_3854del (p.Lys1283AspfsTer4) c.3838_3845del (p.Lys1280AspfsTer4) c.3799_3806del (p.Lys1267AspfsTer4) c.3745_3752del (p.Lys1249AspfsTer4) c.3649_3656del (p.Lys1217AspfsTer4) c.3619_3626del (p.Lys1207AspfsTer4) c.3544_3551del (p.Lys1182AspfsTer4) c.3442_3449del (p.Lys1148AspfsTer4) c.3073_3080del (p.Lys1025AspfsTer4) | COSMIC |
| 5 | g.112839521_112839525dup | CA645543652 | APC | c.3592_3596dup (n.3592_3596dup) c.3981_3985dup (p.Ile1329LysfsTer12) c.*3933_*3937dup (n.*3933_*3937dup) c.3873_3877dup (p.Ile1293LysfsTer12) c.3927_3931dup (p.Ile1311LysfsTer12) c.2280_2284dup c.*3249_*3253dup (n.*3249_*3253dup) c.230+10549_230+10553dup c.3957_3961dup (p.Ile1321LysfsTer12) c.3852_3856dup (p.Ile1286LysfsTer12) c.3843_3847dup (p.Ile1283LysfsTer12) c.3804_3808dup (p.Ile1270LysfsTer12) c.3750_3754dup (p.Ile1252LysfsTer12) c.3654_3658dup (p.Ile1220LysfsTer12) c.3624_3628dup (p.Ile1210LysfsTer12) c.3549_3553dup (p.Ile1185LysfsTer12) c.3447_3451dup (p.Ile1151LysfsTer12) c.3078_3082dup (p.Ile1028LysfsTer12) | COSMIC |
| 5 | g.112839521_112839525del | CA008769 | APC | c.3592_3596del (n.3592_3596del) c.3981_3985del (p.Glu1327AspfsTer4) c.*3933_*3937del (n.*3933_*3937del) c.3873_3877del (p.Glu1291AspfsTer4) c.3927_3931del (p.Glu1309AspfsTer4) c.2280_2284del c.*3249_*3253del (n.*3249_*3253del) c.230+10549_230+10553del c.3957_3961del (p.Glu1319AspfsTer4) c.3852_3856del (p.Glu1284AspfsTer4) c.3843_3847del (p.Glu1281AspfsTer4) c.3804_3808del (p.Glu1268AspfsTer4) c.3750_3754del (p.Glu1250AspfsTer4) c.3654_3658del (p.Glu1218AspfsTer4) c.3624_3628del (p.Glu1208AspfsTer4) c.3549_3553del (p.Glu1183AspfsTer4) c.3447_3451del (p.Glu1149AspfsTer4) c.3078_3082del (p.Glu1026AspfsTer4) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC |
| 5 | g.112839516A>C | CA16029937 | APC | c.3587A>C (n.3587A>C) c.3976A>C (p.Lys1326Gln) c.*3928A>C (n.*3928A>C) c.3868A>C (p.Lys1290Gln) c.3922A>C (p.Lys1308Gln) c.2275A>C c.*3244A>C (n.*3244A>C) c.230+10544A>C c.3952A>C (p.Lys1318Gln) c.3847A>C (p.Lys1283Gln) c.3838A>C (p.Lys1280Gln) c.3799A>C (p.Lys1267Gln) c.3745A>C (p.Lys1249Gln) c.3649A>C (p.Lys1217Gln) c.3619A>C (p.Lys1207Gln) c.3544A>C (p.Lys1182Gln) c.3442A>C (p.Lys1148Gln) c.3073A>C (p.Lys1025Gln) | |
| 5 | g.112839516A>G | CA16029938 | APC | c.3587A>G (n.3587A>G) c.3976A>G (p.Lys1326Glu) c.*3928A>G (n.*3928A>G) c.3868A>G (p.Lys1290Glu) c.3922A>G (p.Lys1308Glu) c.2275A>G c.*3244A>G (n.*3244A>G) c.230+10544A>G c.3952A>G (p.Lys1318Glu) c.3847A>G (p.Lys1283Glu) c.3838A>G (p.Lys1280Glu) c.3799A>G (p.Lys1267Glu) c.3745A>G (p.Lys1249Glu) c.3649A>G (p.Lys1217Glu) c.3619A>G (p.Lys1207Glu) c.3544A>G (p.Lys1182Glu) c.3442A>G (p.Lys1148Glu) c.3073A>G (p.Lys1025Glu) | COSMIC |
| 5 | g.112839516A>T | CA16029939 | APC | c.3587A>T (n.3587A>T) c.3976A>T (p.Lys1326Ter) c.*3928A>T (n.*3928A>T) c.3868A>T (p.Lys1290Ter) c.3922A>T (p.Lys1308Ter) c.2275A>T c.*3244A>T (n.*3244A>T) c.230+10544A>T c.3952A>T (p.Lys1318Ter) c.3847A>T (p.Lys1283Ter) c.3838A>T (p.Lys1280Ter) c.3799A>T (p.Lys1267Ter) c.3745A>T (p.Lys1249Ter) c.3649A>T (p.Lys1217Ter) c.3619A>T (p.Lys1207Ter) c.3544A>T (p.Lys1182Ter) c.3442A>T (p.Lys1148Ter) c.3073A>T (p.Lys1025Ter) | dbSNP COSMIC |
| 5 | g.112839519_112839522del | CA10578360 | APC | c.3590_3593del (n.3590_3593del) c.3979_3982del (p.Glu1327ArgfsTer11) c.*3931_*3934del (n.*3931_*3934del) c.3871_3874del (p.Glu1291ArgfsTer11) c.3925_3928del (p.Glu1309ArgfsTer11) c.2278_2281del c.*3247_*3250del (n.*3247_*3250del) c.230+10547_230+10550del c.3955_3958del (p.Glu1319ArgfsTer11) c.3850_3853del (p.Glu1284ArgfsTer11) c.3841_3844del (p.Glu1281ArgfsTer11) c.3802_3805del (p.Glu1268ArgfsTer11) c.3748_3751del (p.Glu1250ArgfsTer11) c.3652_3655del (p.Glu1218ArgfsTer11) c.3622_3625del (p.Glu1208ArgfsTer11) c.3547_3550del (p.Glu1183ArgfsTer11) c.3445_3448del (p.Glu1149ArgfsTer11) c.3076_3079del (p.Glu1026ArgfsTer11) | ClinVar dbSNP |
| 5 | g.112839517A>C | CA16029940 | APC | c.3588A>C (n.3588A>C) c.3977A>C (p.Lys1326Thr) c.*3929A>C (n.*3929A>C) c.3869A>C (p.Lys1290Thr) c.3923A>C (p.Lys1308Thr) c.2276A>C c.*3245A>C (n.*3245A>C) c.230+10545A>C c.3953A>C (p.Lys1318Thr) c.3848A>C (p.Lys1283Thr) c.3839A>C (p.Lys1280Thr) c.3800A>C (p.Lys1267Thr) c.3746A>C (p.Lys1249Thr) c.3650A>C (p.Lys1217Thr) c.3620A>C (p.Lys1207Thr) c.3545A>C (p.Lys1182Thr) c.3443A>C (p.Lys1148Thr) c.3074A>C (p.Lys1025Thr) | |
| 5 | g.112839517A>G | CA16029941 | APC | c.3588A>G (n.3588A>G) c.3977A>G (p.Lys1326Arg) c.*3929A>G (n.*3929A>G) c.3869A>G (p.Lys1290Arg) c.3923A>G (p.Lys1308Arg) c.2276A>G c.*3245A>G (n.*3245A>G) c.230+10545A>G c.3953A>G (p.Lys1318Arg) c.3848A>G (p.Lys1283Arg) c.3839A>G (p.Lys1280Arg) c.3800A>G (p.Lys1267Arg) c.3746A>G (p.Lys1249Arg) c.3650A>G (p.Lys1217Arg) c.3620A>G (p.Lys1207Arg) c.3545A>G (p.Lys1182Arg) c.3443A>G (p.Lys1148Arg) c.3074A>G (p.Lys1025Arg) | |
| 5 | g.112839517A>T | CA16029942 | APC | c.3588A>T (n.3588A>T) c.3977A>T (p.Lys1326Ile) c.*3929A>T (n.*3929A>T) c.3869A>T (p.Lys1290Ile) c.3923A>T (p.Lys1308Ile) c.2276A>T c.*3245A>T (n.*3245A>T) c.230+10545A>T c.3953A>T (p.Lys1318Ile) c.3848A>T (p.Lys1283Ile) c.3839A>T (p.Lys1280Ile) c.3800A>T (p.Lys1267Ile) c.3746A>T (p.Lys1249Ile) c.3650A>T (p.Lys1217Ile) c.3620A>T (p.Lys1207Ile) c.3545A>T (p.Lys1182Ile) c.3443A>T (p.Lys1148Ile) c.3074A>T (p.Lys1025Ile) | dbSNP |
| 5 | g.112839518_112839525del | CA2695205228 | APC | c.3589_3596del (n.3589_3596del) c.3978_3985del (p.Lys1326AsnfsTer4) c.*3930_*3937del (n.*3930_*3937del) c.3870_3877del (p.Lys1290AsnfsTer4) c.3924_3931del (p.Lys1308AsnfsTer4) c.2277_2284del c.*3246_*3253del (n.*3246_*3253del) c.230+10546_230+10553del c.3954_3961del (p.Lys1318AsnfsTer4) c.3849_3856del (p.Lys1283AsnfsTer4) c.3840_3847del (p.Lys1280AsnfsTer4) c.3801_3808del (p.Lys1267AsnfsTer4) c.3747_3754del (p.Lys1249AsnfsTer4) c.3651_3658del (p.Lys1217AsnfsTer4) c.3621_3628del (p.Lys1207AsnfsTer4) c.3546_3553del (p.Lys1182AsnfsTer4) c.3444_3451del (p.Lys1148AsnfsTer4) c.3075_3082del (p.Lys1025AsnfsTer4) | |
| 5 | g.112839518A>C | CA16029943 | APC | c.3589A>C (n.3589A>C) c.3978A>C (p.Lys1326Asn) c.*3930A>C (n.*3930A>C) c.3870A>C (p.Lys1290Asn) c.3924A>C (p.Lys1308Asn) c.2277A>C c.*3246A>C (n.*3246A>C) c.230+10546A>C c.3954A>C (p.Lys1318Asn) c.3849A>C (p.Lys1283Asn) c.3840A>C (p.Lys1280Asn) c.3801A>C (p.Lys1267Asn) c.3747A>C (p.Lys1249Asn) c.3651A>C (p.Lys1217Asn) c.3621A>C (p.Lys1207Asn) c.3546A>C (p.Lys1182Asn) c.3444A>C (p.Lys1148Asn) c.3075A>C (p.Lys1025Asn) | |
| 5 | g.112839518A>G | CA445963887 | APC | c.3589A>G (n.3589A>G) c.3978A>G (p.Lys1326=) c.*3930A>G (n.*3930A>G) c.3870A>G (p.Lys1290=) c.3924A>G (p.Lys1308=) c.2277A>G c.*3246A>G (n.*3246A>G) c.230+10546A>G c.3954A>G (p.Lys1318=) c.3849A>G (p.Lys1283=) c.3840A>G (p.Lys1280=) c.3801A>G (p.Lys1267=) c.3747A>G (p.Lys1249=) c.3651A>G (p.Lys1217=) c.3621A>G (p.Lys1207=) c.3546A>G (p.Lys1182=) c.3444A>G (p.Lys1148=) c.3075A>G (p.Lys1025=) | gnomAD v4 |
| 5 | g.112839518A>T | CA16029944 | APC | c.3589A>T (n.3589A>T) c.3978A>T (p.Lys1326Asn) c.*3930A>T (n.*3930A>T) c.3870A>T (p.Lys1290Asn) c.3924A>T (p.Lys1308Asn) c.2277A>T c.*3246A>T (n.*3246A>T) c.230+10546A>T c.3954A>T (p.Lys1318Asn) c.3849A>T (p.Lys1283Asn) c.3840A>T (p.Lys1280Asn) c.3801A>T (p.Lys1267Asn) c.3747A>T (p.Lys1249Asn) c.3651A>T (p.Lys1217Asn) c.3621A>T (p.Lys1207Asn) c.3546A>T (p.Lys1182Asn) c.3444A>T (p.Lys1148Asn) c.3075A>T (p.Lys1025Asn) | dbSNP |
| 5 | g.112839519_112839520del | CA645543655 | APC | c.3590_3591del (n.3590_3591del) c.3979_3980del (p.Glu1327LysfsTer5) c.*3931_*3932del (n.*3931_*3932del) c.3871_3872del (p.Glu1291LysfsTer5) c.3925_3926del (p.Glu1309LysfsTer5) c.2278_2279del c.*3247_*3248del (n.*3247_*3248del) c.230+10547_230+10548del c.3955_3956del (p.Glu1319LysfsTer5) c.3850_3851del (p.Glu1284LysfsTer5) c.3841_3842del (p.Glu1281LysfsTer5) c.3802_3803del (p.Glu1268LysfsTer5) c.3748_3749del (p.Glu1250LysfsTer5) c.3652_3653del (p.Glu1218LysfsTer5) c.3622_3623del (p.Glu1208LysfsTer5) c.3547_3548del (p.Glu1183LysfsTer5) c.3445_3446del (p.Glu1149LysfsTer5) c.3076_3077del (p.Glu1026LysfsTer5) | ClinVar COSMIC |
| 5 | g.112839519G>A | CA16029945 | APC | c.3590G>A (n.3590G>A) c.3979G>A (p.Glu1327Lys) c.*3931G>A (n.*3931G>A) c.3871G>A (p.Glu1291Lys) c.3925G>A (p.Glu1309Lys) c.2278G>A c.*3247G>A (n.*3247G>A) c.230+10547G>A c.3955G>A (p.Glu1319Lys) c.3850G>A (p.Glu1284Lys) c.3841G>A (p.Glu1281Lys) c.3802G>A (p.Glu1268Lys) c.3748G>A (p.Glu1250Lys) c.3652G>A (p.Glu1218Lys) c.3622G>A (p.Glu1208Lys) c.3547G>A (p.Glu1183Lys) c.3445G>A (p.Glu1149Lys) c.3076G>A (p.Glu1026Lys) | ClinVar dbSNP COSMIC |
| 5 | g.112839519G>C | CA16029946 | APC | c.3590G>C (n.3590G>C) c.3979G>C (p.Glu1327Gln) c.*3931G>C (n.*3931G>C) c.3871G>C (p.Glu1291Gln) c.3925G>C (p.Glu1309Gln) c.2278G>C c.*3247G>C (n.*3247G>C) c.230+10547G>C c.3955G>C (p.Glu1319Gln) c.3850G>C (p.Glu1284Gln) c.3841G>C (p.Glu1281Gln) c.3802G>C (p.Glu1268Gln) c.3748G>C (p.Glu1250Gln) c.3652G>C (p.Glu1218Gln) c.3622G>C (p.Glu1208Gln) c.3547G>C (p.Glu1183Gln) c.3445G>C (p.Glu1149Gln) c.3076G>C (p.Glu1026Gln) | |
| 5 | g.112839519G= | CA1573491236 | APC | c.3590G= (n.3590G=) c.3979G= (p.Glu1327=) c.*3931G= (n.*3931G=) c.3871G= (p.Glu1291=) c.3925G= (p.Glu1309=) c.2278G= c.*3247G= (n.*3247G=) c.230+10547G= c.3955G= (p.Glu1319=) c.3850G= (p.Glu1284=) c.3841G= (p.Glu1281=) c.3802G= (p.Glu1268=) c.3748G= (p.Glu1250=) c.3652G= (p.Glu1218=) c.3622G= (p.Glu1208=) c.3547G= (p.Glu1183=) c.3445G= (p.Glu1149=) c.3076G= (p.Glu1026=) | |
| 5 | g.112839519G>T | CA16029947 | APC | c.3590G>T (n.3590G>T) c.3979G>T (p.Glu1327Ter) c.*3931G>T (n.*3931G>T) c.3871G>T (p.Glu1291Ter) c.3925G>T (p.Glu1309Ter) c.2278G>T c.*3247G>T (n.*3247G>T) c.230+10547G>T c.3955G>T (p.Glu1319Ter) c.3850G>T (p.Glu1284Ter) c.3841G>T (p.Glu1281Ter) c.3802G>T (p.Glu1268Ter) c.3748G>T (p.Glu1250Ter) c.3652G>T (p.Glu1218Ter) c.3622G>T (p.Glu1208Ter) c.3547G>T (p.Glu1183Ter) c.3445G>T (p.Glu1149Ter) c.3076G>T (p.Glu1026Ter) | ClinVar dbSNP gnomAD v2 COSMIC |
| 5 | g.112839519dup | CA645543656 | APC | c.3590dup (n.3590dup) c.3979dup (p.Glu1327GlyfsTer6) c.*3931dup (n.*3931dup) c.3871dup (p.Glu1291GlyfsTer6) c.3925dup (p.Glu1309GlyfsTer6) c.2278dup c.*3247dup (n.*3247dup) c.230+10547dup c.3955dup (p.Glu1319GlyfsTer6) c.3850dup (p.Glu1284GlyfsTer6) c.3841dup (p.Glu1281GlyfsTer6) c.3802dup (p.Glu1268GlyfsTer6) c.3748dup (p.Glu1250GlyfsTer6) c.3652dup (p.Glu1218GlyfsTer6) c.3622dup (p.Glu1208GlyfsTer6) c.3547dup (p.Glu1183GlyfsTer6) c.3445dup (p.Glu1149GlyfsTer6) c.3076dup (p.Glu1026GlyfsTer6) | COSMIC |
| 5 | g.112839520A= | CA1573491246 | APC | c.3591A= (n.3591A=) c.3980A= (p.Glu1327=) c.*3932A= (n.*3932A=) c.3872A= (p.Glu1291=) c.3926A= (p.Glu1309=) c.2279A= c.*3248A= (n.*3248A=) c.230+10548A= c.3956A= (p.Glu1319=) c.3851A= (p.Glu1284=) c.3842A= (p.Glu1281=) c.3803A= (p.Glu1268=) c.3749A= (p.Glu1250=) c.3653A= (p.Glu1218=) c.3623A= (p.Glu1208=) c.3548A= (p.Glu1183=) c.3446A= (p.Glu1149=) c.3077A= (p.Glu1026=) | |
| 5 | g.112839520A>C | CA037055 | APC | c.3591A>C (n.3591A>C) c.3980A>C (p.Glu1327Ala) c.*3932A>C (n.*3932A>C) c.3872A>C (p.Glu1291Ala) c.3926A>C (p.Glu1309Ala) c.2279A>C c.*3248A>C (n.*3248A>C) c.230+10548A>C c.3956A>C (p.Glu1319Ala) c.3851A>C (p.Glu1284Ala) c.3842A>C (p.Glu1281Ala) c.3803A>C (p.Glu1268Ala) c.3749A>C (p.Glu1250Ala) c.3653A>C (p.Glu1218Ala) c.3623A>C (p.Glu1208Ala) c.3548A>C (p.Glu1183Ala) c.3446A>C (p.Glu1149Ala) c.3077A>C (p.Glu1026Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112839520A>G | CA16029948 | APC | c.3591A>G (n.3591A>G) c.3980A>G (p.Glu1327Gly) c.*3932A>G (n.*3932A>G) c.3872A>G (p.Glu1291Gly) c.3926A>G (p.Glu1309Gly) c.2279A>G c.*3248A>G (n.*3248A>G) c.230+10548A>G c.3956A>G (p.Glu1319Gly) c.3851A>G (p.Glu1284Gly) c.3842A>G (p.Glu1281Gly) c.3803A>G (p.Glu1268Gly) c.3749A>G (p.Glu1250Gly) c.3653A>G (p.Glu1218Gly) c.3623A>G (p.Glu1208Gly) c.3548A>G (p.Glu1183Gly) c.3446A>G (p.Glu1149Gly) c.3077A>G (p.Glu1026Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.112839520A>T | CA16029949 | APC | c.3591A>T (n.3591A>T) c.3980A>T (p.Glu1327Val) c.*3932A>T (n.*3932A>T) c.3872A>T (p.Glu1291Val) c.3926A>T (p.Glu1309Val) c.2279A>T c.*3248A>T (n.*3248A>T) c.230+10548A>T c.3956A>T (p.Glu1319Val) c.3851A>T (p.Glu1284Val) c.3842A>T (p.Glu1281Val) c.3803A>T (p.Glu1268Val) c.3749A>T (p.Glu1250Val) c.3653A>T (p.Glu1218Val) c.3623A>T (p.Glu1208Val) c.3548A>T (p.Glu1183Val) c.3446A>T (p.Glu1149Val) c.3077A>T (p.Glu1026Val) | dbSNP |
| 5 | g.112839520_112839523del | CA2695205229 | APC | c.3591_3594del (n.3591_3594del) c.3980_3983del (p.Glu1327GlyfsTer11) c.*3932_*3935del (n.*3932_*3935del) c.3872_3875del (p.Glu1291GlyfsTer11) c.3926_3929del (p.Glu1309GlyfsTer11) c.2279_2282del c.*3248_*3251del (n.*3248_*3251del) c.230+10548_230+10551del c.3956_3959del (p.Glu1319GlyfsTer11) c.3851_3854del (p.Glu1284GlyfsTer11) c.3842_3845del (p.Glu1281GlyfsTer11) c.3803_3806del (p.Glu1268GlyfsTer11) c.3749_3752del (p.Glu1250GlyfsTer11) c.3653_3656del (p.Glu1218GlyfsTer11) c.3623_3626del (p.Glu1208GlyfsTer11) c.3548_3551del (p.Glu1183GlyfsTer11) c.3446_3449del (p.Glu1149GlyfsTer11) c.3077_3080del (p.Glu1026GlyfsTer11) | |
| 5 | g.112839523dup | CA445963890 | APC | c.3594dup (n.3594dup) c.3983dup (p.Ile1329AspfsTer4) c.*3935dup (n.*3935dup) c.3875dup (p.Ile1293AspfsTer4) c.3929dup (p.Ile1311AspfsTer4) c.2282dup c.*3251dup (n.*3251dup) c.230+10551dup c.3959dup (p.Ile1321AspfsTer4) c.3854dup (p.Ile1286AspfsTer4) c.3845dup (p.Ile1283AspfsTer4) c.3806dup (p.Ile1270AspfsTer4) c.3752dup (p.Ile1252AspfsTer4) c.3656dup (p.Ile1220AspfsTer4) c.3626dup (p.Ile1210AspfsTer4) c.3551dup (p.Ile1185AspfsTer4) c.3449dup (p.Ile1151AspfsTer4) c.3080dup (p.Ile1028AspfsTer4) | COSMIC |
| 5 | g.112839523del | CA445963889 | APC | c.3594del (n.3594del) c.3983del (p.Lys1328ArgfsTer11) c.*3935del (n.*3935del) c.3875del (p.Lys1292ArgfsTer11) c.3929del (p.Lys1310ArgfsTer11) c.2282del c.*3251del (n.*3251del) c.230+10551del c.3959del (p.Lys1320ArgfsTer11) c.3854del (p.Lys1285ArgfsTer11) c.3845del (p.Lys1282ArgfsTer11) c.3806del (p.Lys1269ArgfsTer11) c.3752del (p.Lys1251ArgfsTer11) c.3656del (p.Lys1219ArgfsTer11) c.3626del (p.Lys1209ArgfsTer11) c.3551del (p.Lys1184ArgfsTer11) c.3449del (p.Lys1150ArgfsTer11) c.3080del (p.Lys1027ArgfsTer11) | COSMIC COSMIC |
| 5 | g.112839522_112839523del | CA645543657 | APC | c.3593_3594del (n.3593_3594del) c.3982_3983del (p.Lys1328AspfsTer4) c.*3934_*3935del (n.*3934_*3935del) c.3874_3875del (p.Lys1292AspfsTer4) c.3928_3929del (p.Lys1310AspfsTer4) c.2281_2282del c.*3250_*3251del (n.*3250_*3251del) c.230+10550_230+10551del c.3958_3959del (p.Lys1320AspfsTer4) c.3853_3854del (p.Lys1285AspfsTer4) c.3844_3845del (p.Lys1282AspfsTer4) c.3805_3806del (p.Lys1269AspfsTer4) c.3751_3752del (p.Lys1251AspfsTer4) c.3655_3656del (p.Lys1219AspfsTer4) c.3625_3626del (p.Lys1209AspfsTer4) c.3550_3551del (p.Lys1184AspfsTer4) c.3448_3449del (p.Lys1150AspfsTer4) c.3079_3080del (p.Lys1027AspfsTer4) | COSMIC COSMIC |
| 5 | g.112839520_112839521insG | CA445963894 | APC | c.3591_3592insG (n.3591_3592insG) c.3980_3981insG (p.Ile1329AspfsTer4) c.*3932_*3933insG (n.*3932_*3933insG) c.3872_3873insG (p.Ile1293AspfsTer4) c.3926_3927insG (p.Ile1311AspfsTer4) c.2279_2280insG c.*3248_*3249insG (n.*3248_*3249insG) c.230+10548_230+10549insG c.3956_3957insG (p.Ile1321AspfsTer4) c.3851_3852insG (p.Ile1286AspfsTer4) c.3842_3843insG (p.Ile1283AspfsTer4) c.3803_3804insG (p.Ile1270AspfsTer4) c.3749_3750insG (p.Ile1252AspfsTer4) c.3653_3654insG (p.Ile1220AspfsTer4) c.3623_3624insG (p.Ile1210AspfsTer4) c.3548_3549insG (p.Ile1185AspfsTer4) c.3446_3447insG (p.Ile1151AspfsTer4) c.3077_3078insG (p.Ile1028AspfsTer4) | |
| 5 | g.112839521A= | CA1573491258 | APC | c.3592A= (n.3592A=) c.3981A= (p.Glu1327=) c.*3933A= (n.*3933A=) c.3873A= (p.Glu1291=) c.3927A= (p.Glu1309=) c.2280A= c.*3249A= (n.*3249A=) c.230+10549A= c.3957A= (p.Glu1319=) c.3852A= (p.Glu1284=) c.3843A= (p.Glu1281=) c.3804A= (p.Glu1268=) c.3750A= (p.Glu1250=) c.3654A= (p.Glu1218=) c.3624A= (p.Glu1208=) c.3549A= (p.Glu1183=) c.3447A= (p.Glu1149=) c.3078A= (p.Glu1026=) | |
| 5 | g.112839521A>C | CA16029950 | APC | c.3592A>C (n.3592A>C) c.3981A>C (p.Glu1327Asp) c.*3933A>C (n.*3933A>C) c.3873A>C (p.Glu1291Asp) c.3927A>C (p.Glu1309Asp) c.2280A>C c.*3249A>C (n.*3249A>C) c.230+10549A>C c.3957A>C (p.Glu1319Asp) c.3852A>C (p.Glu1284Asp) c.3843A>C (p.Glu1281Asp) c.3804A>C (p.Glu1268Asp) c.3750A>C (p.Glu1250Asp) c.3654A>C (p.Glu1218Asp) c.3624A>C (p.Glu1208Asp) c.3549A>C (p.Glu1183Asp) c.3447A>C (p.Glu1149Asp) c.3078A>C (p.Glu1026Asp) | dbSNP |