| 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.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.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.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.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.112839521_112839522delinsTT | CA2695205230 | APC | c.3592_3593delinsTT (n.3592_3593delinsTT) c.3981_3982delinsTT (p.Glu1327AspfsTer2) c.*3933_*3934delinsTT (n.*3933_*3934delinsTT) c.3873_3874delinsTT (p.Glu1291AspfsTer2) c.3927_3928delinsTT (p.Glu1309AspfsTer2) c.2280_2281delinsTT c.*3249_*3250delinsTT (n.*3249_*3250delinsTT) c.230+10549_230+10550delinsTT c.3957_3958delinsTT (p.Glu1319AspfsTer2) c.3852_3853delinsTT (p.Glu1284AspfsTer2) c.3843_3844delinsTT (p.Glu1281AspfsTer2) c.3804_3805delinsTT (p.Glu1268AspfsTer2) c.3750_3751delinsTT (p.Glu1250AspfsTer2) c.3654_3655delinsTT (p.Glu1218AspfsTer2) c.3624_3625delinsTT (p.Glu1208AspfsTer2) c.3549_3550delinsTT (p.Glu1183AspfsTer2) c.3447_3448delinsTT (p.Glu1149AspfsTer2) c.3078_3079delinsTT (p.Glu1026AspfsTer2) | |
| 5 | g.112839522_112839525del | CA645543658 | APC | c.3593_3596del (n.3593_3596del) c.3982_3985del (p.Lys1328LeufsTer10) c.*3934_*3937del (n.*3934_*3937del) c.3874_3877del (p.Lys1292LeufsTer10) c.3928_3931del (p.Lys1310LeufsTer10) c.2281_2284del c.*3250_*3253del (n.*3250_*3253del) c.230+10550_230+10553del c.3958_3961del (p.Lys1320LeufsTer10) c.3853_3856del (p.Lys1285LeufsTer10) c.3844_3847del (p.Lys1282LeufsTer10) c.3805_3808del (p.Lys1269LeufsTer10) c.3751_3754del (p.Lys1251LeufsTer10) c.3655_3658del (p.Lys1219LeufsTer10) c.3625_3628del (p.Lys1209LeufsTer10) c.3550_3553del (p.Lys1184LeufsTer10) c.3448_3451del (p.Lys1150LeufsTer10) c.3079_3082del (p.Lys1027LeufsTer10) | COSMIC COSMIC |
| 5 | g.112839521_112839532delinsAAAGATTGGAAC | CA1573491263 | APC | c.3592_3603delinsAAAGATTGGAAC (n.3592_3603delinsAAAGATTGGAAC) c.3981_3992delinsAAAGATTGGAAC (p.Glu1327=) c.*3933_*3944delinsAAAGATTGGAAC (n.*3933_*3944delinsAAAGATTGGAAC) c.3873_3884delinsAAAGATTGGAAC (p.Glu1291=) c.3927_3938delinsAAAGATTGGAAC (p.Glu1309=) c.2280_2291delinsAAAGATTGGAAC c.*3249_*3260delinsAAAGATTGGAAC (n.*3249_*3260delinsAAAGATTGGAAC) c.230+10549_230+10560delinsAAAGATTGGAAC c.3957_3968delinsAAAGATTGGAAC (p.Glu1319=) c.3852_3863delinsAAAGATTGGAAC (p.Glu1284=) c.3843_3854delinsAAAGATTGGAAC (p.Glu1281=) c.3804_3815delinsAAAGATTGGAAC (p.Glu1268=) c.3750_3761delinsAAAGATTGGAAC (p.Glu1250=) c.3654_3665delinsAAAGATTGGAAC (p.Glu1218=) c.3624_3635delinsAAAGATTGGAAC (p.Glu1208=) c.3549_3560delinsAAAGATTGGAAC (p.Glu1183=) c.3447_3458delinsAAAGATTGGAAC (p.Glu1149=) c.3078_3089delinsAAAGATTGGAAC (p.Glu1026=) | |
| 5 | g.112839521_112839541delinsAAAGATTGGAACTAGGTCAGC | CA1573491259 | APC | c.3592_3612delinsAAAGATTGGAACTAGGTCAGC (n.3592_3612delinsAAAGATTGGAACTAGGTCAGC) c.3981_4001delinsAAAGATTGGAACTAGGTCAGC (p.Glu1327=) c.*3933_*3953delinsAAAGATTGGAACTAGGTCAGC (n.*3933_*3953delinsAAAGATTGGAACTAGGTCAGC) c.3873_3893delinsAAAGATTGGAACTAGGTCAGC (p.Glu1291=) c.3927_3947delinsAAAGATTGGAACTAGGTCAGC (p.Glu1309=) c.2280_2300delinsAAAGATTGGAACTAGGTCAGC c.*3249_*3269delinsAAAGATTGGAACTAGGTCAGC (n.*3249_*3269delinsAAAGATTGGAACTAGGTCAGC) c.230+10549_230+10569delinsAAAGATTGGAACTAGGTCAGC c.3957_3977delinsAAAGATTGGAACTAGGTCAGC (p.Glu1319=) c.3852_3872delinsAAAGATTGGAACTAGGTCAGC (p.Glu1284=) c.3843_3863delinsAAAGATTGGAACTAGGTCAGC (p.Glu1281=) c.3804_3824delinsAAAGATTGGAACTAGGTCAGC (p.Glu1268=) c.3750_3770delinsAAAGATTGGAACTAGGTCAGC (p.Glu1250=) c.3654_3674delinsAAAGATTGGAACTAGGTCAGC (p.Glu1218=) c.3624_3644delinsAAAGATTGGAACTAGGTCAGC (p.Glu1208=) c.3549_3569delinsAAAGATTGGAACTAGGTCAGC (p.Glu1183=) c.3447_3467delinsAAAGATTGGAACTAGGTCAGC (p.Glu1149=) c.3078_3098delinsAAAGATTGGAACTAGGTCAGC (p.Glu1026=) | |
| 5 | g.112839522A>C | CA16029952 | APC | c.3593A>C (n.3593A>C) c.3982A>C (p.Lys1328Gln) c.*3934A>C (n.*3934A>C) c.3874A>C (p.Lys1292Gln) c.3928A>C (p.Lys1310Gln) c.2281A>C c.*3250A>C (n.*3250A>C) c.230+10550A>C c.3958A>C (p.Lys1320Gln) c.3853A>C (p.Lys1285Gln) c.3844A>C (p.Lys1282Gln) c.3805A>C (p.Lys1269Gln) c.3751A>C (p.Lys1251Gln) c.3655A>C (p.Lys1219Gln) c.3625A>C (p.Lys1209Gln) c.3550A>C (p.Lys1184Gln) c.3448A>C (p.Lys1150Gln) c.3079A>C (p.Lys1027Gln) | |
| 5 | g.112839522A>G | CA16029953 | APC | c.3593A>G (n.3593A>G) c.3982A>G (p.Lys1328Glu) c.*3934A>G (n.*3934A>G) c.3874A>G (p.Lys1292Glu) c.3928A>G (p.Lys1310Glu) c.2281A>G c.*3250A>G (n.*3250A>G) c.230+10550A>G c.3958A>G (p.Lys1320Glu) c.3853A>G (p.Lys1285Glu) c.3844A>G (p.Lys1282Glu) c.3805A>G (p.Lys1269Glu) c.3751A>G (p.Lys1251Glu) c.3655A>G (p.Lys1219Glu) c.3625A>G (p.Lys1209Glu) c.3550A>G (p.Lys1184Glu) c.3448A>G (p.Lys1150Glu) c.3079A>G (p.Lys1027Glu) | |
| 5 | g.112839522A>T | CA16029954 | APC | c.3593A>T (n.3593A>T) c.3982A>T (p.Lys1328Ter) c.*3934A>T (n.*3934A>T) c.3874A>T (p.Lys1292Ter) c.3928A>T (p.Lys1310Ter) c.2281A>T c.*3250A>T (n.*3250A>T) c.230+10550A>T c.3958A>T (p.Lys1320Ter) c.3853A>T (p.Lys1285Ter) c.3844A>T (p.Lys1282Ter) c.3805A>T (p.Lys1269Ter) c.3751A>T (p.Lys1251Ter) c.3655A>T (p.Lys1219Ter) c.3625A>T (p.Lys1209Ter) c.3550A>T (p.Lys1184Ter) c.3448A>T (p.Lys1150Ter) c.3079A>T (p.Lys1027Ter) | ClinVar dbSNP COSMIC |
| 5 | g.112839522_112839532del | CA16602712 | APC | c.3593_3603del (n.3593_3603del) c.3982_3992del (p.Lys1328Ter) c.*3934_*3944del (n.*3934_*3944del) c.3874_3884del (p.Lys1292Ter) c.3928_3938del (p.Lys1310Ter) c.2281_2291del c.*3250_*3260del (n.*3250_*3260del) c.230+10550_230+10560del c.3958_3968del (p.Lys1320Ter) c.3853_3863del (p.Lys1285Ter) c.3844_3854del (p.Lys1282Ter) c.3805_3815del (p.Lys1269Ter) c.3751_3761del (p.Lys1251Ter) c.3655_3665del (p.Lys1219Ter) c.3625_3635del (p.Lys1209Ter) c.3550_3560del (p.Lys1184Ter) c.3448_3458del (p.Lys1150Ter) c.3079_3089del (p.Lys1027Ter) | ClinVar dbSNP |
| 5 | g.112839522_112839541del | CA16602713 | APC | c.3593_3612del (n.3593_3612del) c.3982_4001del (p.Lys1328Ter) c.*3934_*3953del (n.*3934_*3953del) c.3874_3893del (p.Lys1292Ter) c.3928_3947del (p.Lys1310Ter) c.2281_2300del c.*3250_*3269del (n.*3250_*3269del) c.230+10550_230+10569del c.3958_3977del (p.Lys1320Ter) c.3853_3872del (p.Lys1285Ter) c.3844_3863del (p.Lys1282Ter) c.3805_3824del (p.Lys1269Ter) c.3751_3770del (p.Lys1251Ter) c.3655_3674del (p.Lys1219Ter) c.3625_3644del (p.Lys1209Ter) c.3550_3569del (p.Lys1184Ter) c.3448_3467del (p.Lys1150Ter) c.3079_3098del (p.Lys1027Ter) | ClinVar dbSNP |
| 5 | g.112839523A>C | CA16029955 | APC | c.3594A>C (n.3594A>C) c.3983A>C (p.Lys1328Thr) c.*3935A>C (n.*3935A>C) c.3875A>C (p.Lys1292Thr) c.3929A>C (p.Lys1310Thr) c.2282A>C c.*3251A>C (n.*3251A>C) c.230+10551A>C c.3959A>C (p.Lys1320Thr) c.3854A>C (p.Lys1285Thr) c.3845A>C (p.Lys1282Thr) c.3806A>C (p.Lys1269Thr) c.3752A>C (p.Lys1251Thr) c.3656A>C (p.Lys1219Thr) c.3626A>C (p.Lys1209Thr) c.3551A>C (p.Lys1184Thr) c.3449A>C (p.Lys1150Thr) c.3080A>C (p.Lys1027Thr) | |
| 5 | g.112839523A>G | CA16029956 | APC | c.3594A>G (n.3594A>G) c.3983A>G (p.Lys1328Arg) c.*3935A>G (n.*3935A>G) c.3875A>G (p.Lys1292Arg) c.3929A>G (p.Lys1310Arg) c.2282A>G c.*3251A>G (n.*3251A>G) c.230+10551A>G c.3959A>G (p.Lys1320Arg) c.3854A>G (p.Lys1285Arg) c.3845A>G (p.Lys1282Arg) c.3806A>G (p.Lys1269Arg) c.3752A>G (p.Lys1251Arg) c.3656A>G (p.Lys1219Arg) c.3626A>G (p.Lys1209Arg) c.3551A>G (p.Lys1184Arg) c.3449A>G (p.Lys1150Arg) c.3080A>G (p.Lys1027Arg) | dbSNP |
| 5 | g.112839523A>T | CA16029957 | APC | c.3594A>T (n.3594A>T) c.3983A>T (p.Lys1328Met) c.*3935A>T (n.*3935A>T) c.3875A>T (p.Lys1292Met) c.3929A>T (p.Lys1310Met) c.2282A>T c.*3251A>T (n.*3251A>T) c.230+10551A>T c.3959A>T (p.Lys1320Met) c.3854A>T (p.Lys1285Met) c.3845A>T (p.Lys1282Met) c.3806A>T (p.Lys1269Met) c.3752A>T (p.Lys1251Met) c.3656A>T (p.Lys1219Met) c.3626A>T (p.Lys1209Met) c.3551A>T (p.Lys1184Met) c.3449A>T (p.Lys1150Met) c.3080A>T (p.Lys1027Met) | dbSNP |
| 5 | g.112839524del | CA445963898 | APC | c.3595del (n.3595del) c.3984del (p.Ile1329LeufsTer10) c.*3936del (n.*3936del) c.3876del (p.Ile1293LeufsTer10) c.3930del (p.Ile1311LeufsTer10) c.2283del c.*3252del (n.*3252del) c.230+10552del c.3960del (p.Ile1321LeufsTer10) c.3855del (p.Ile1286LeufsTer10) c.3846del (p.Ile1283LeufsTer10) c.3807del (p.Ile1270LeufsTer10) c.3753del (p.Ile1252LeufsTer10) c.3657del (p.Ile1220LeufsTer10) c.3627del (p.Ile1210LeufsTer10) c.3552del (p.Ile1185LeufsTer10) c.3450del (p.Ile1151LeufsTer10) c.3081del (p.Ile1028LeufsTer10) | COSMIC |
| 5 | g.112839524G>A | CA445963900 | APC | c.3595G>A (n.3595G>A) c.3984G>A (p.Lys1328=) c.*3936G>A (n.*3936G>A) c.3876G>A (p.Lys1292=) c.3930G>A (p.Lys1310=) c.2283G>A c.*3252G>A (n.*3252G>A) c.230+10552G>A c.3960G>A (p.Lys1320=) c.3855G>A (p.Lys1285=) c.3846G>A (p.Lys1282=) c.3807G>A (p.Lys1269=) c.3753G>A (p.Lys1251=) c.3657G>A (p.Lys1219=) c.3627G>A (p.Lys1209=) c.3552G>A (p.Lys1184=) c.3450G>A (p.Lys1150=) c.3081G>A (p.Lys1027=) | ClinVar dbSNP |
| 5 | g.112839524G>C | CA16029958 | APC | c.3595G>C (n.3595G>C) c.3984G>C (p.Lys1328Asn) c.*3936G>C (n.*3936G>C) c.3876G>C (p.Lys1292Asn) c.3930G>C (p.Lys1310Asn) c.2283G>C c.*3252G>C (n.*3252G>C) c.230+10552G>C c.3960G>C (p.Lys1320Asn) c.3855G>C (p.Lys1285Asn) c.3846G>C (p.Lys1282Asn) c.3807G>C (p.Lys1269Asn) c.3753G>C (p.Lys1251Asn) c.3657G>C (p.Lys1219Asn) c.3627G>C (p.Lys1209Asn) c.3552G>C (p.Lys1184Asn) c.3450G>C (p.Lys1150Asn) c.3081G>C (p.Lys1027Asn) | dbSNP gnomAD v4 COSMIC |
| 5 | g.112839524G= | CA1573491275 | APC | c.3595G= (n.3595G=) c.3984G= (p.Lys1328=) c.*3936G= (n.*3936G=) c.3876G= (p.Lys1292=) c.3930G= (p.Lys1310=) c.2283G= c.*3252G= (n.*3252G=) c.230+10552G= c.3960G= (p.Lys1320=) c.3855G= (p.Lys1285=) c.3846G= (p.Lys1282=) c.3807G= (p.Lys1269=) c.3753G= (p.Lys1251=) c.3657G= (p.Lys1219=) c.3627G= (p.Lys1209=) c.3552G= (p.Lys1184=) c.3450G= (p.Lys1150=) c.3081G= (p.Lys1027=) | |
| 5 | g.112839524G>T | CA16029959 | APC | c.3595G>T (n.3595G>T) c.3984G>T (p.Lys1328Asn) c.*3936G>T (n.*3936G>T) c.3876G>T (p.Lys1292Asn) c.3930G>T (p.Lys1310Asn) c.2283G>T c.*3252G>T (n.*3252G>T) c.230+10552G>T c.3960G>T (p.Lys1320Asn) c.3855G>T (p.Lys1285Asn) c.3846G>T (p.Lys1282Asn) c.3807G>T (p.Lys1269Asn) c.3753G>T (p.Lys1251Asn) c.3657G>T (p.Lys1219Asn) c.3627G>T (p.Lys1209Asn) c.3552G>T (p.Lys1184Asn) c.3450G>T (p.Lys1150Asn) c.3081G>T (p.Lys1027Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112839524dup | CA658760624 | APC | c.3595dup (n.3595dup) c.3984dup (p.Ile1329AspfsTer4) c.*3936dup (n.*3936dup) c.3876dup (p.Ile1293AspfsTer4) c.3930dup (p.Ile1311AspfsTer4) c.2283dup c.*3252dup (n.*3252dup) c.230+10552dup c.3960dup (p.Ile1321AspfsTer4) c.3855dup (p.Ile1286AspfsTer4) c.3846dup (p.Ile1283AspfsTer4) c.3807dup (p.Ile1270AspfsTer4) c.3753dup (p.Ile1252AspfsTer4) c.3657dup (p.Ile1220AspfsTer4) c.3627dup (p.Ile1210AspfsTer4) c.3552dup (p.Ile1185AspfsTer4) c.3450dup (p.Ile1151AspfsTer4) c.3081dup (p.Ile1028AspfsTer4) | |
| 5 | g.112839525_112839528del | CA645543659 | APC | c.3596_3599del (n.3596_3599del) c.3985_3988del (p.Ile1329GlufsTer9) c.*3937_*3940del (n.*3937_*3940del) c.3877_3880del (p.Ile1293GlufsTer9) c.3931_3934del (p.Ile1311GlufsTer9) c.2284_2287del c.*3253_*3256del (n.*3253_*3256del) c.230+10553_230+10556del c.3961_3964del (p.Ile1321GlufsTer9) c.3856_3859del (p.Ile1286GlufsTer9) c.3847_3850del (p.Ile1283GlufsTer9) c.3808_3811del (p.Ile1270GlufsTer9) c.3754_3757del (p.Ile1252GlufsTer9) c.3658_3661del (p.Ile1220GlufsTer9) c.3628_3631del (p.Ile1210GlufsTer9) c.3553_3556del (p.Ile1185GlufsTer9) c.3451_3454del (p.Ile1151GlufsTer9) c.3082_3085del (p.Ile1028GlufsTer9) | COSMIC |
| 5 | g.112839526_112839530del | CA658760623 | APC | c.3597_3601del (n.3597_3601del) c.3986_3990del (p.Ile1329AsnfsTer2) c.*3938_*3942del (n.*3938_*3942del) c.3878_3882del (p.Ile1293AsnfsTer2) c.3932_3936del (p.Ile1311AsnfsTer2) c.2285_2289del c.*3254_*3258del (n.*3254_*3258del) c.230+10554_230+10558del c.3962_3966del (p.Ile1321AsnfsTer2) c.3857_3861del (p.Ile1286AsnfsTer2) c.3848_3852del (p.Ile1283AsnfsTer2) c.3809_3813del (p.Ile1270AsnfsTer2) c.3755_3759del (p.Ile1252AsnfsTer2) c.3659_3663del (p.Ile1220AsnfsTer2) c.3629_3633del (p.Ile1210AsnfsTer2) c.3554_3558del (p.Ile1185AsnfsTer2) c.3452_3456del (p.Ile1151AsnfsTer2) c.3083_3087del (p.Ile1028AsnfsTer2) | |
| 5 | g.112839525A>C | CA16029960 | APC | c.3596A>C (n.3596A>C) c.3985A>C (p.Ile1329Leu) c.*3937A>C (n.*3937A>C) c.3877A>C (p.Ile1293Leu) c.3931A>C (p.Ile1311Leu) c.2284A>C c.*3253A>C (n.*3253A>C) c.230+10553A>C c.3961A>C (p.Ile1321Leu) c.3856A>C (p.Ile1286Leu) c.3847A>C (p.Ile1283Leu) c.3808A>C (p.Ile1270Leu) c.3754A>C (p.Ile1252Leu) c.3658A>C (p.Ile1220Leu) c.3628A>C (p.Ile1210Leu) c.3553A>C (p.Ile1185Leu) c.3451A>C (p.Ile1151Leu) c.3082A>C (p.Ile1028Leu) | |
| 5 | g.112839525A>G | CA16029961 | APC | c.3596A>G (n.3596A>G) c.3985A>G (p.Ile1329Val) c.*3937A>G (n.*3937A>G) c.3877A>G (p.Ile1293Val) c.3931A>G (p.Ile1311Val) c.2284A>G c.*3253A>G (n.*3253A>G) c.230+10553A>G c.3961A>G (p.Ile1321Val) c.3856A>G (p.Ile1286Val) c.3847A>G (p.Ile1283Val) c.3808A>G (p.Ile1270Val) c.3754A>G (p.Ile1252Val) c.3658A>G (p.Ile1220Val) c.3628A>G (p.Ile1210Val) c.3553A>G (p.Ile1185Val) c.3451A>G (p.Ile1151Val) c.3082A>G (p.Ile1028Val) | |
| 5 | g.112839525A>T | CA16029962 | APC | c.3596A>T (n.3596A>T) c.3985A>T (p.Ile1329Phe) c.*3937A>T (n.*3937A>T) c.3877A>T (p.Ile1293Phe) c.3931A>T (p.Ile1311Phe) c.2284A>T c.*3253A>T (n.*3253A>T) c.230+10553A>T c.3961A>T (p.Ile1321Phe) c.3856A>T (p.Ile1286Phe) c.3847A>T (p.Ile1283Phe) c.3808A>T (p.Ile1270Phe) c.3754A>T (p.Ile1252Phe) c.3658A>T (p.Ile1220Phe) c.3628A>T (p.Ile1210Phe) c.3553A>T (p.Ile1185Phe) c.3451A>T (p.Ile1151Phe) c.3082A>T (p.Ile1028Phe) | ClinVar gnomAD v4 |
| 5 | g.112839525dup | CA645543660 | APC | c.3596dup (n.3596dup) c.3985dup (p.Ile1329AsnfsTer4) c.*3937dup (n.*3937dup) c.3877dup (p.Ile1293AsnfsTer4) c.3931dup (p.Ile1311AsnfsTer4) c.2284dup c.*3253dup (n.*3253dup) c.230+10553dup c.3961dup (p.Ile1321AsnfsTer4) c.3856dup (p.Ile1286AsnfsTer4) c.3847dup (p.Ile1283AsnfsTer4) c.3808dup (p.Ile1270AsnfsTer4) c.3754dup (p.Ile1252AsnfsTer4) c.3658dup (p.Ile1220AsnfsTer4) c.3628dup (p.Ile1210AsnfsTer4) c.3553dup (p.Ile1185AsnfsTer4) c.3451dup (p.Ile1151AsnfsTer4) c.3082dup (p.Ile1028AsnfsTer4) | COSMIC |
| 5 | g.112839526T>A | CA16029963 | APC | c.3597T>A (n.3597T>A) c.3986T>A (p.Ile1329Asn) c.*3938T>A (n.*3938T>A) c.3878T>A (p.Ile1293Asn) c.3932T>A (p.Ile1311Asn) c.2285T>A c.*3254T>A (n.*3254T>A) c.230+10554T>A c.3962T>A (p.Ile1321Asn) c.3857T>A (p.Ile1286Asn) c.3848T>A (p.Ile1283Asn) c.3809T>A (p.Ile1270Asn) c.3755T>A (p.Ile1252Asn) c.3659T>A (p.Ile1220Asn) c.3629T>A (p.Ile1210Asn) c.3554T>A (p.Ile1185Asn) c.3452T>A (p.Ile1151Asn) c.3083T>A (p.Ile1028Asn) | dbSNP |
| 5 | g.112839526T>C | CA16029964 | APC | c.3597T>C (n.3597T>C) c.3986T>C (p.Ile1329Thr) c.*3938T>C (n.*3938T>C) c.3878T>C (p.Ile1293Thr) c.3932T>C (p.Ile1311Thr) c.2285T>C c.*3254T>C (n.*3254T>C) c.230+10554T>C c.3962T>C (p.Ile1321Thr) c.3857T>C (p.Ile1286Thr) c.3848T>C (p.Ile1283Thr) c.3809T>C (p.Ile1270Thr) c.3755T>C (p.Ile1252Thr) c.3659T>C (p.Ile1220Thr) c.3629T>C (p.Ile1210Thr) c.3554T>C (p.Ile1185Thr) c.3452T>C (p.Ile1151Thr) c.3083T>C (p.Ile1028Thr) | ClinVar dbSNP |
| 5 | g.112839526T>G | CA10578361 | APC | c.3597T>G (n.3597T>G) c.3986T>G (p.Ile1329Ser) c.*3938T>G (n.*3938T>G) c.3878T>G (p.Ile1293Ser) c.3932T>G (p.Ile1311Ser) c.2285T>G c.*3254T>G (n.*3254T>G) c.230+10554T>G c.3962T>G (p.Ile1321Ser) c.3857T>G (p.Ile1286Ser) c.3848T>G (p.Ile1283Ser) c.3809T>G (p.Ile1270Ser) c.3755T>G (p.Ile1252Ser) c.3659T>G (p.Ile1220Ser) c.3629T>G (p.Ile1210Ser) c.3554T>G (p.Ile1185Ser) c.3452T>G (p.Ile1151Ser) c.3083T>G (p.Ile1028Ser) | ClinVar dbSNP |
| 5 | g.112839526T= | CA1573491282 | APC | c.3597T= (n.3597T=) c.3986T= (p.Ile1329=) c.*3938T= (n.*3938T=) c.3878T= (p.Ile1293=) c.3932T= (p.Ile1311=) c.2285T= c.*3254T= (n.*3254T=) c.230+10554T= c.3962T= (p.Ile1321=) c.3857T= (p.Ile1286=) c.3848T= (p.Ile1283=) c.3809T= (p.Ile1270=) c.3755T= (p.Ile1252=) c.3659T= (p.Ile1220=) c.3629T= (p.Ile1210=) c.3554T= (p.Ile1185=) c.3452T= (p.Ile1151=) c.3083T= (p.Ile1028=) | |
| 5 | g.112839526_112839527del | CA645543661 | APC | c.3597_3598del (n.3597_3598del) c.3986_3987del (p.Ile1329ArgfsTer3) c.*3938_*3939del (n.*3938_*3939del) c.3878_3879del (p.Ile1293ArgfsTer3) c.3932_3933del (p.Ile1311ArgfsTer3) c.2285_2286del c.*3254_*3255del (n.*3254_*3255del) c.230+10554_230+10555del c.3962_3963del (p.Ile1321ArgfsTer3) c.3857_3858del (p.Ile1286ArgfsTer3) c.3848_3849del (p.Ile1283ArgfsTer3) c.3809_3810del (p.Ile1270ArgfsTer3) c.3755_3756del (p.Ile1252ArgfsTer3) c.3659_3660del (p.Ile1220ArgfsTer3) c.3629_3630del (p.Ile1210ArgfsTer3) c.3554_3555del (p.Ile1185ArgfsTer3) c.3452_3453del (p.Ile1151ArgfsTer3) c.3083_3084del (p.Ile1028ArgfsTer3) | COSMIC |
| 5 | g.112839527dup | CA445963903 | APC | c.3598dup (n.3598dup) c.3987dup (p.Gly1330TrpfsTer3) c.*3939dup (n.*3939dup) c.3879dup (p.Gly1294TrpfsTer3) c.3933dup (p.Gly1312TrpfsTer3) c.2286dup c.*3255dup (n.*3255dup) c.230+10555dup c.3963dup (p.Gly1322TrpfsTer3) c.3858dup (p.Gly1287TrpfsTer3) c.3849dup (p.Gly1284TrpfsTer3) c.3810dup (p.Gly1271TrpfsTer3) c.3756dup (p.Gly1253TrpfsTer3) c.3660dup (p.Gly1221TrpfsTer3) c.3630dup (p.Gly1211TrpfsTer3) c.3555dup (p.Gly1186TrpfsTer3) c.3453dup (p.Gly1152TrpfsTer3) c.3084dup (p.Gly1029TrpfsTer3) | ClinVar COSMIC |
| 5 | g.112839527del | CA658760626 | APC | c.3598del (n.3598del) c.3987del (p.Ile1329MetfsTer10) c.*3939del (n.*3939del) c.3879del (p.Ile1293MetfsTer10) c.3933del (p.Ile1311MetfsTer10) c.2286del c.*3255del (n.*3255del) c.230+10555del c.3963del (p.Ile1321MetfsTer10) c.3858del (p.Ile1286MetfsTer10) c.3849del (p.Ile1283MetfsTer10) c.3810del (p.Ile1270MetfsTer10) c.3756del (p.Ile1252MetfsTer10) c.3660del (p.Ile1220MetfsTer10) c.3630del (p.Ile1210MetfsTer10) c.3555del (p.Ile1185MetfsTer10) c.3453del (p.Ile1151MetfsTer10) c.3084del (p.Ile1028MetfsTer10) | |
| 5 | g.112839527_112839537del | CA645543662 | APC | c.3598_3608del (n.3598_3608del) c.3987_3997del (p.Gly1330SerfsTer2) c.*3939_*3949del (n.*3939_*3949del) c.3879_3889del (p.Gly1294SerfsTer2) c.3933_3943del (p.Gly1312SerfsTer2) c.2286_2296del c.*3255_*3265del (n.*3255_*3265del) c.230+10555_230+10565del c.3963_3973del (p.Gly1322SerfsTer2) c.3858_3868del (p.Gly1287SerfsTer2) c.3849_3859del (p.Gly1284SerfsTer2) c.3810_3820del (p.Gly1271SerfsTer2) c.3756_3766del (p.Gly1253SerfsTer2) c.3660_3670del (p.Gly1221SerfsTer2) c.3630_3640del (p.Gly1211SerfsTer2) c.3555_3565del (p.Gly1186SerfsTer2) c.3453_3463del (p.Gly1152SerfsTer2) c.3084_3094del (p.Gly1029SerfsTer2) | COSMIC |
| 5 | g.112839526_112839527insA | CA445963904 | APC | c.3597_3598insA (n.3597_3598insA) c.3986_3987insA (p.Gly1330TrpfsTer3) c.*3938_*3939insA (n.*3938_*3939insA) c.3878_3879insA (p.Gly1294TrpfsTer3) c.3932_3933insA (p.Gly1312TrpfsTer3) c.2285_2286insA c.*3254_*3255insA (n.*3254_*3255insA) c.230+10554_230+10555insA c.3962_3963insA (p.Gly1322TrpfsTer3) c.3857_3858insA (p.Gly1287TrpfsTer3) c.3848_3849insA (p.Gly1284TrpfsTer3) c.3809_3810insA (p.Gly1271TrpfsTer3) c.3755_3756insA (p.Gly1253TrpfsTer3) c.3659_3660insA (p.Gly1221TrpfsTer3) c.3629_3630insA (p.Gly1211TrpfsTer3) c.3554_3555insA (p.Gly1186TrpfsTer3) c.3452_3453insA (p.Gly1152TrpfsTer3) c.3083_3084insA (p.Gly1029TrpfsTer3) | |
| 5 | g.112839527T>A | CA445963905 | APC | c.3598T>A (n.3598T>A) c.3987T>A (p.Ile1329=) c.*3939T>A (n.*3939T>A) c.3879T>A (p.Ile1293=) c.3933T>A (p.Ile1311=) c.2286T>A c.*3255T>A (n.*3255T>A) c.230+10555T>A c.3963T>A (p.Ile1321=) c.3858T>A (p.Ile1286=) c.3849T>A (p.Ile1283=) c.3810T>A (p.Ile1270=) c.3756T>A (p.Ile1252=) c.3660T>A (p.Ile1220=) c.3630T>A (p.Ile1210=) c.3555T>A (p.Ile1185=) c.3453T>A (p.Ile1151=) c.3084T>A (p.Ile1028=) | dbSNP |
| 5 | g.112839527T>C | CA037072 | APC | c.3598T>C (n.3598T>C) c.3987T>C (p.Ile1329=) c.*3939T>C (n.*3939T>C) c.3879T>C (p.Ile1293=) c.3933T>C (p.Ile1311=) c.2286T>C c.*3255T>C (n.*3255T>C) c.230+10555T>C c.3963T>C (p.Ile1321=) c.3858T>C (p.Ile1286=) c.3849T>C (p.Ile1283=) c.3810T>C (p.Ile1270=) c.3756T>C (p.Ile1252=) c.3660T>C (p.Ile1220=) c.3630T>C (p.Ile1210=) c.3555T>C (p.Ile1185=) c.3453T>C (p.Ile1151=) c.3084T>C (p.Ile1028=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112839527T>G | CA16029965 | APC | c.3598T>G (n.3598T>G) c.3987T>G (p.Ile1329Met) c.*3939T>G (n.*3939T>G) c.3879T>G (p.Ile1293Met) c.3933T>G (p.Ile1311Met) c.2286T>G c.*3255T>G (n.*3255T>G) c.230+10555T>G c.3963T>G (p.Ile1321Met) c.3858T>G (p.Ile1286Met) c.3849T>G (p.Ile1283Met) c.3810T>G (p.Ile1270Met) c.3756T>G (p.Ile1252Met) c.3660T>G (p.Ile1220Met) c.3630T>G (p.Ile1210Met) c.3555T>G (p.Ile1185Met) c.3453T>G (p.Ile1151Met) c.3084T>G (p.Ile1028Met) | |
| 5 | g.112839527T= | CA1573491290 | APC | c.3598T= (n.3598T=) c.3987T= (p.Ile1329=) c.*3939T= (n.*3939T=) c.3879T= (p.Ile1293=) c.3933T= (p.Ile1311=) c.2286T= c.*3255T= (n.*3255T=) c.230+10555T= c.3963T= (p.Ile1321=) c.3858T= (p.Ile1286=) c.3849T= (p.Ile1283=) c.3810T= (p.Ile1270=) c.3756T= (p.Ile1252=) c.3660T= (p.Ile1220=) c.3630T= (p.Ile1210=) c.3555T= (p.Ile1185=) c.3453T= (p.Ile1151=) c.3084T= (p.Ile1028=) | |
| 5 | g.112839527_112839528delinsTG | CA1573491295 | APC | c.3598_3599delinsTG (n.3598_3599delinsTG) c.3987_3988delinsTG (p.Ile1329=) c.*3939_*3940delinsTG (n.*3939_*3940delinsTG) c.3879_3880delinsTG (p.Ile1293=) c.3933_3934delinsTG (p.Ile1311=) c.2286_2287delinsTG c.*3255_*3256delinsTG (n.*3255_*3256delinsTG) c.230+10555_230+10556delinsTG c.3963_3964delinsTG (p.Ile1321=) c.3858_3859delinsTG (p.Ile1286=) c.3849_3850delinsTG (p.Ile1283=) c.3810_3811delinsTG (p.Ile1270=) c.3756_3757delinsTG (p.Ile1252=) c.3660_3661delinsTG (p.Ile1220=) c.3630_3631delinsTG (p.Ile1210=) c.3555_3556delinsTG (p.Ile1185=) c.3453_3454delinsTG (p.Ile1151=) c.3084_3085delinsTG (p.Ile1028=) |