| 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.112839472_112839502del | CA645543626 | APC | c.3543_3573del (n.3543_3573del) c.3932_3962del (p.Thr1311LysfsTer2) c.*3884_*3914del (n.*3884_*3914del) c.3824_3854del (p.Thr1275LysfsTer2) c.3878_3908del (p.Thr1293LysfsTer2) c.2231_2261del c.*3200_*3230del (n.*3200_*3230del) c.230+10500_230+10530del c.3908_3938del (p.Thr1303LysfsTer2) c.3803_3833del (p.Thr1268LysfsTer2) c.3794_3824del (p.Thr1265LysfsTer2) c.3755_3785del (p.Thr1252LysfsTer2) c.3701_3731del (p.Thr1234LysfsTer2) c.3605_3635del (p.Thr1202LysfsTer2) c.3575_3605del (p.Thr1192LysfsTer2) c.3500_3530del (p.Thr1167LysfsTer2) c.3398_3428del (p.Thr1133LysfsTer2) c.3029_3059del (p.Thr1010LysfsTer2) | COSMIC |
| 5 | g.112839491_112839501dup | CA645543633 | APC | c.3562_3572dup (n.3562_3572dup) c.3951_3961dup (p.Gln1321LeufsTer6) c.*3903_*3913dup (n.*3903_*3913dup) c.3843_3853dup (p.Gln1285LeufsTer6) c.3897_3907dup (p.Gln1303LeufsTer6) c.2250_2260dup c.*3219_*3229dup (n.*3219_*3229dup) c.230+10519_230+10529dup c.3927_3937dup (p.Gln1313LeufsTer6) c.3822_3832dup (p.Gln1278LeufsTer6) c.3813_3823dup (p.Gln1275LeufsTer6) c.3774_3784dup (p.Gln1262LeufsTer6) c.3720_3730dup (p.Gln1244LeufsTer6) c.3624_3634dup (p.Gln1212LeufsTer6) c.3594_3604dup (p.Gln1202LeufsTer6) c.3519_3529dup (p.Gln1177LeufsTer6) c.3417_3427dup (p.Gln1143LeufsTer6) c.3048_3058dup (p.Gln1020LeufsTer6) | COSMIC |
| 5 | g.112839491_112839501del | CA16621948 | APC | c.3562_3572del (n.3562_3572del) c.3951_3961del (p.Thr1319SerfsTer10) c.*3903_*3913del (n.*3903_*3913del) c.3843_3853del (p.Thr1283SerfsTer10) c.3897_3907del (p.Thr1301SerfsTer10) c.2250_2260del c.*3219_*3229del (n.*3219_*3229del) c.3897_3907del (p.Thr1301SerfsTer?) c.230+10519_230+10529del c.3927_3937del (p.Thr1311SerfsTer10) c.3822_3832del (p.Thr1276SerfsTer10) c.3813_3823del (p.Thr1273SerfsTer10) c.3774_3784del (p.Thr1260SerfsTer10) c.3720_3730del (p.Thr1242SerfsTer10) c.3624_3634del (p.Thr1210SerfsTer10) c.3594_3604del (p.Thr1200SerfsTer10) c.3519_3529del (p.Thr1175SerfsTer10) c.3417_3427del (p.Thr1141SerfsTer10) c.3048_3058del (p.Thr1018SerfsTer10) | COSMIC |
| 5 | g.112839494_112839503dup | CA645543639 | APC | c.3565_3574dup (n.3565_3574dup) c.3954_3963dup (p.Ile1322TyrfsTer14) c.*3906_*3915dup (n.*3906_*3915dup) c.3846_3855dup (p.Ile1286TyrfsTer14) c.3900_3909dup (p.Ile1304TyrfsTer14) c.2253_2262dup c.*3222_*3231dup (n.*3222_*3231dup) c.3900_3909dup (p.Ile1304TyrfsTer?) c.230+10522_230+10531dup c.3930_3939dup (p.Ile1314TyrfsTer14) c.3825_3834dup (p.Ile1279TyrfsTer14) c.3816_3825dup (p.Ile1276TyrfsTer14) c.3777_3786dup (p.Ile1263TyrfsTer14) c.3723_3732dup (p.Ile1245TyrfsTer14) c.3627_3636dup (p.Ile1213TyrfsTer14) c.3597_3606dup (p.Ile1203TyrfsTer14) c.3522_3531dup (p.Ile1178TyrfsTer14) c.3420_3429dup (p.Ile1144TyrfsTer14) c.3051_3060dup (p.Ile1021TyrfsTer14) | COSMIC |
| 5 | g.112839496_112839506del | CA645543637 | APC | c.3567_3577del (n.3567_3577del) c.3956_3966del (p.Thr1319SerfsTer10) c.*3908_*3918del (n.*3908_*3918del) c.3848_3858del (p.Thr1283SerfsTer10) c.3902_3912del (p.Thr1301SerfsTer10) c.2255_2265del c.*3224_*3234del (n.*3224_*3234del) c.3902_3912del (p.Thr1301SerfsTer?) c.230+10524_230+10534del c.3932_3942del (p.Thr1311SerfsTer10) c.3827_3837del (p.Thr1276SerfsTer10) c.3818_3828del (p.Thr1273SerfsTer10) c.3779_3789del (p.Thr1260SerfsTer10) c.3725_3735del (p.Thr1242SerfsTer10) c.3629_3639del (p.Thr1210SerfsTer10) c.3599_3609del (p.Thr1200SerfsTer10) c.3524_3534del (p.Thr1175SerfsTer10) c.3422_3432del (p.Thr1141SerfsTer10) c.3053_3063del (p.Thr1018SerfsTer10) | COSMIC |
| 5 | g.112839498dup | CA445963839 | APC | c.3569dup (n.3569dup) c.3958dup (p.Leu1320ProfsTer13) c.*3910dup (n.*3910dup) c.3850dup (p.Leu1284ProfsTer13) c.3904dup (p.Leu1302ProfsTer13) c.2257dup c.*3226dup (n.*3226dup) c.3904dup (p.Leu1302ProfsTer?) c.230+10526dup c.3934dup (p.Leu1312ProfsTer13) c.3829dup (p.Leu1277ProfsTer13) c.3820dup (p.Leu1274ProfsTer13) c.3781dup (p.Leu1261ProfsTer13) c.3727dup (p.Leu1243ProfsTer13) c.3631dup (p.Leu1211ProfsTer13) c.3601dup (p.Leu1201ProfsTer13) c.3526dup (p.Leu1176ProfsTer13) c.3424dup (p.Leu1142ProfsTer13) c.3055dup (p.Leu1019ProfsTer13) | COSMIC |
| 5 | g.112839498del | CA16618083 | APC | c.3569del (n.3569del) c.3958del (p.Leu1320CysfsTer3) c.*3910del (n.*3910del) c.3850del (p.Leu1284CysfsTer3) c.3904del (p.Leu1302CysfsTer3) c.2257del c.*3226del (n.*3226del) c.230+10526del c.3934del (p.Leu1312CysfsTer3) c.3829del (p.Leu1277CysfsTer3) c.3820del (p.Leu1274CysfsTer3) c.3781del (p.Leu1261CysfsTer3) c.3727del (p.Leu1243CysfsTer3) c.3631del (p.Leu1211CysfsTer3) c.3601del (p.Leu1201CysfsTer3) c.3526del (p.Leu1176CysfsTer3) c.3424del (p.Leu1142CysfsTer3) c.3055del (p.Leu1019CysfsTer3) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 5 | g.112839498C>A | CA16029898 | APC | c.3569C>A (n.3569C>A) c.3958C>A (p.Leu1320Met) c.*3910C>A (n.*3910C>A) c.3850C>A (p.Leu1284Met) c.3904C>A (p.Leu1302Met) c.2257C>A c.*3226C>A (n.*3226C>A) c.230+10526C>A c.3934C>A (p.Leu1312Met) c.3829C>A (p.Leu1277Met) c.3820C>A (p.Leu1274Met) c.3781C>A (p.Leu1261Met) c.3727C>A (p.Leu1243Met) c.3631C>A (p.Leu1211Met) c.3601C>A (p.Leu1201Met) c.3526C>A (p.Leu1176Met) c.3424C>A (p.Leu1142Met) c.3055C>A (p.Leu1019Met) | dbSNP |
| 5 | g.112839498C>G | CA16029899 | APC | c.3569C>G (n.3569C>G) c.3958C>G (p.Leu1320Val) c.*3910C>G (n.*3910C>G) c.3850C>G (p.Leu1284Val) c.3904C>G (p.Leu1302Val) c.2257C>G c.*3226C>G (n.*3226C>G) c.230+10526C>G c.3934C>G (p.Leu1312Val) c.3829C>G (p.Leu1277Val) c.3820C>G (p.Leu1274Val) c.3781C>G (p.Leu1261Val) c.3727C>G (p.Leu1243Val) c.3631C>G (p.Leu1211Val) c.3601C>G (p.Leu1201Val) c.3526C>G (p.Leu1176Val) c.3424C>G (p.Leu1142Val) c.3055C>G (p.Leu1019Val) | |
| 5 | g.112839498C>T | CA445963846 | APC | c.3569C>T (n.3569C>T) c.3958C>T (p.Leu1320=) c.*3910C>T (n.*3910C>T) c.3850C>T (p.Leu1284=) c.3904C>T (p.Leu1302=) c.2257C>T c.*3226C>T (n.*3226C>T) c.230+10526C>T c.3934C>T (p.Leu1312=) c.3829C>T (p.Leu1277=) c.3820C>T (p.Leu1274=) c.3781C>T (p.Leu1261=) c.3727C>T (p.Leu1243=) c.3631C>T (p.Leu1211=) c.3601C>T (p.Leu1201=) c.3526C>T (p.Leu1176=) c.3424C>T (p.Leu1142=) c.3055C>T (p.Leu1019=) | ClinVar dbSNP |
| 5 | g.112839498_112839502del | CA645543641 | APC | c.3569_3573del (n.3569_3573del) c.3958_3962del (p.Leu1320AsnfsTer11) c.*3910_*3914del (n.*3910_*3914del) c.3850_3854del (p.Leu1284AsnfsTer11) c.3904_3908del (p.Leu1302AsnfsTer11) c.2257_2261del c.*3226_*3230del (n.*3226_*3230del) c.3904_3908del (p.Leu1302AsnfsTer?) c.230+10526_230+10530del c.3934_3938del (p.Leu1312AsnfsTer11) c.3829_3833del (p.Leu1277AsnfsTer11) c.3820_3824del (p.Leu1274AsnfsTer11) c.3781_3785del (p.Leu1261AsnfsTer11) c.3727_3731del (p.Leu1243AsnfsTer11) c.3631_3635del (p.Leu1211AsnfsTer11) c.3601_3605del (p.Leu1201AsnfsTer11) c.3526_3530del (p.Leu1176AsnfsTer11) c.3424_3428del (p.Leu1142AsnfsTer11) c.3055_3059del (p.Leu1019AsnfsTer11) | COSMIC |
| 5 | g.112839499del | CA445963851 | APC | c.3570del (n.3570del) c.3959del (p.Leu1320ArgfsTer3) c.*3911del (n.*3911del) c.3851del (p.Leu1284ArgfsTer3) c.3905del (p.Leu1302ArgfsTer3) c.2258del c.*3227del (n.*3227del) c.230+10527del c.3935del (p.Leu1312ArgfsTer3) c.3830del (p.Leu1277ArgfsTer3) c.3821del (p.Leu1274ArgfsTer3) c.3782del (p.Leu1261ArgfsTer3) c.3728del (p.Leu1243ArgfsTer3) c.3632del (p.Leu1211ArgfsTer3) c.3602del (p.Leu1201ArgfsTer3) c.3527del (p.Leu1176ArgfsTer3) c.3425del (p.Leu1142ArgfsTer3) c.3056del (p.Leu1019ArgfsTer3) | ClinVar dbSNP COSMIC |
| 5 | g.112839499T>A | CA16029900 | APC | c.3570T>A (n.3570T>A) c.3959T>A (p.Leu1320Gln) c.*3911T>A (n.*3911T>A) c.3851T>A (p.Leu1284Gln) c.3905T>A (p.Leu1302Gln) c.2258T>A c.*3227T>A (n.*3227T>A) c.230+10527T>A c.3935T>A (p.Leu1312Gln) c.3830T>A (p.Leu1277Gln) c.3821T>A (p.Leu1274Gln) c.3782T>A (p.Leu1261Gln) c.3728T>A (p.Leu1243Gln) c.3632T>A (p.Leu1211Gln) c.3602T>A (p.Leu1201Gln) c.3527T>A (p.Leu1176Gln) c.3425T>A (p.Leu1142Gln) c.3056T>A (p.Leu1019Gln) | dbSNP |
| 5 | g.112839499T>C | CA16029901 | APC | c.3570T>C (n.3570T>C) c.3959T>C (p.Leu1320Pro) c.*3911T>C (n.*3911T>C) c.3851T>C (p.Leu1284Pro) c.3905T>C (p.Leu1302Pro) c.2258T>C c.*3227T>C (n.*3227T>C) c.230+10527T>C c.3935T>C (p.Leu1312Pro) c.3830T>C (p.Leu1277Pro) c.3821T>C (p.Leu1274Pro) c.3782T>C (p.Leu1261Pro) c.3728T>C (p.Leu1243Pro) c.3632T>C (p.Leu1211Pro) c.3602T>C (p.Leu1201Pro) c.3527T>C (p.Leu1176Pro) c.3425T>C (p.Leu1142Pro) c.3056T>C (p.Leu1019Pro) | ClinVar dbSNP |
| 5 | g.112839499T>G | CA16029902 | APC | c.3570T>G (n.3570T>G) c.3959T>G (p.Leu1320Arg) c.*3911T>G (n.*3911T>G) c.3851T>G (p.Leu1284Arg) c.3905T>G (p.Leu1302Arg) c.2258T>G c.*3227T>G (n.*3227T>G) c.230+10527T>G c.3935T>G (p.Leu1312Arg) c.3830T>G (p.Leu1277Arg) c.3821T>G (p.Leu1274Arg) c.3782T>G (p.Leu1261Arg) c.3728T>G (p.Leu1243Arg) c.3632T>G (p.Leu1211Arg) c.3602T>G (p.Leu1201Arg) c.3527T>G (p.Leu1176Arg) c.3425T>G (p.Leu1142Arg) c.3056T>G (p.Leu1019Arg) | |
| 5 | g.112839499dup | CA445963850 | APC | c.3570dup (n.3570dup) c.3959dup (p.Gln1321AlafsTer12) c.*3911dup (n.*3911dup) c.3851dup (p.Gln1285AlafsTer12) c.3905dup (p.Gln1303AlafsTer12) c.2258dup c.*3227dup (n.*3227dup) c.3905dup (p.Gln1303AlafsTer?) c.230+10527dup c.3935dup (p.Gln1313AlafsTer12) c.3830dup (p.Gln1278AlafsTer12) c.3821dup (p.Gln1275AlafsTer12) c.3782dup (p.Gln1262AlafsTer12) c.3728dup (p.Gln1244AlafsTer12) c.3632dup (p.Gln1212AlafsTer12) c.3602dup (p.Gln1202AlafsTer12) c.3527dup (p.Gln1177AlafsTer12) c.3425dup (p.Gln1143AlafsTer12) c.3056dup (p.Gln1020AlafsTer12) | COSMIC |
| 5 | g.112839499_112839503del | CA645543642 | APC | c.3570_3574del (n.3570_3574del) c.3959_3963del (p.Leu1320HisfsTer11) c.*3911_*3915del (n.*3911_*3915del) c.3851_3855del (p.Leu1284HisfsTer11) c.3905_3909del (p.Leu1302HisfsTer11) c.2258_2262del c.*3227_*3231del (n.*3227_*3231del) c.3905_3909del (p.Leu1302HisfsTer?) c.230+10527_230+10531del c.3935_3939del (p.Leu1312HisfsTer11) c.3830_3834del (p.Leu1277HisfsTer11) c.3821_3825del (p.Leu1274HisfsTer11) c.3782_3786del (p.Leu1261HisfsTer11) c.3728_3732del (p.Leu1243HisfsTer11) c.3632_3636del (p.Leu1211HisfsTer11) c.3602_3606del (p.Leu1201HisfsTer11) c.3527_3531del (p.Leu1176HisfsTer11) c.3425_3429del (p.Leu1142HisfsTer11) c.3056_3060del (p.Leu1019HisfsTer11) | COSMIC |
| 5 | g.112839500del | CA445963854 | APC | c.3571del (n.3571del) c.3960del (p.Gln1321LysfsTer2) c.*3912del (n.*3912del) c.3852del (p.Gln1285LysfsTer2) c.3906del (p.Gln1303LysfsTer2) c.2259del c.*3228del (n.*3228del) c.230+10528del c.3936del (p.Gln1313LysfsTer2) c.3831del (p.Gln1278LysfsTer2) c.3822del (p.Gln1275LysfsTer2) c.3783del (p.Gln1262LysfsTer2) c.3729del (p.Gln1244LysfsTer2) c.3633del (p.Gln1212LysfsTer2) c.3603del (p.Gln1202LysfsTer2) c.3528del (p.Gln1177LysfsTer2) c.3426del (p.Gln1143LysfsTer2) c.3057del (p.Gln1020LysfsTer2) | COSMIC |
| 5 | g.112839500G>A | CA125167777 | APC | c.3571G>A (n.3571G>A) c.3960G>A (p.Leu1320=) c.*3912G>A (n.*3912G>A) c.3852G>A (p.Leu1284=) c.3906G>A (p.Leu1302=) c.2259G>A c.*3228G>A (n.*3228G>A) c.230+10528G>A c.3936G>A (p.Leu1312=) c.3831G>A (p.Leu1277=) c.3822G>A (p.Leu1274=) c.3783G>A (p.Leu1261=) c.3729G>A (p.Leu1243=) c.3633G>A (p.Leu1211=) c.3603G>A (p.Leu1201=) c.3528G>A (p.Leu1176=) c.3426G>A (p.Leu1142=) c.3057G>A (p.Leu1019=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112839500G>C | CA445963852 | APC | c.3571G>C (n.3571G>C) c.3960G>C (p.Leu1320=) c.*3912G>C (n.*3912G>C) c.3852G>C (p.Leu1284=) c.3906G>C (p.Leu1302=) c.2259G>C c.*3228G>C (n.*3228G>C) c.230+10528G>C c.3936G>C (p.Leu1312=) c.3831G>C (p.Leu1277=) c.3822G>C (p.Leu1274=) c.3783G>C (p.Leu1261=) c.3729G>C (p.Leu1243=) c.3633G>C (p.Leu1211=) c.3603G>C (p.Leu1201=) c.3528G>C (p.Leu1176=) c.3426G>C (p.Leu1142=) c.3057G>C (p.Leu1019=) | dbSNP |
| 5 | g.112839500G= | CA1573491106 | APC | c.3571G= (n.3571G=) c.3960G= (p.Leu1320=) c.*3912G= (n.*3912G=) c.3852G= (p.Leu1284=) c.3906G= (p.Leu1302=) c.2259G= c.*3228G= (n.*3228G=) c.230+10528G= c.3936G= (p.Leu1312=) c.3831G= (p.Leu1277=) c.3822G= (p.Leu1274=) c.3783G= (p.Leu1261=) c.3729G= (p.Leu1243=) c.3633G= (p.Leu1211=) c.3603G= (p.Leu1201=) c.3528G= (p.Leu1176=) c.3426G= (p.Leu1142=) c.3057G= (p.Leu1019=) | |
| 5 | g.112839500G>T | CA445963855 | APC | c.3571G>T (n.3571G>T) c.3960G>T (p.Leu1320=) c.*3912G>T (n.*3912G>T) c.3852G>T (p.Leu1284=) c.3906G>T (p.Leu1302=) c.2259G>T c.*3228G>T (n.*3228G>T) c.230+10528G>T c.3936G>T (p.Leu1312=) c.3831G>T (p.Leu1277=) c.3822G>T (p.Leu1274=) c.3783G>T (p.Leu1261=) c.3729G>T (p.Leu1243=) c.3633G>T (p.Leu1211=) c.3603G>T (p.Leu1201=) c.3528G>T (p.Leu1176=) c.3426G>T (p.Leu1142=) c.3057G>T (p.Leu1019=) | ClinVar dbSNP |
| 5 | g.112839501C>A | CA16029903 | APC | c.3572C>A (n.3572C>A) c.3961C>A (p.Gln1321Lys) c.*3913C>A (n.*3913C>A) c.3853C>A (p.Gln1285Lys) c.3907C>A (p.Gln1303Lys) c.2260C>A c.*3229C>A (n.*3229C>A) c.230+10529C>A c.3937C>A (p.Gln1313Lys) c.3832C>A (p.Gln1278Lys) c.3823C>A (p.Gln1275Lys) c.3784C>A (p.Gln1262Lys) c.3730C>A (p.Gln1244Lys) c.3634C>A (p.Gln1212Lys) c.3604C>A (p.Gln1202Lys) c.3529C>A (p.Gln1177Lys) c.3427C>A (p.Gln1143Lys) c.3058C>A (p.Gln1020Lys) | ClinVar dbSNP |
| 5 | g.112839501C>G | CA16029904 | APC | c.3572C>G (n.3572C>G) c.3961C>G (p.Gln1321Glu) c.*3913C>G (n.*3913C>G) c.3853C>G (p.Gln1285Glu) c.3907C>G (p.Gln1303Glu) c.2260C>G c.*3229C>G (n.*3229C>G) c.230+10529C>G c.3937C>G (p.Gln1313Glu) c.3832C>G (p.Gln1278Glu) c.3823C>G (p.Gln1275Glu) c.3784C>G (p.Gln1262Glu) c.3730C>G (p.Gln1244Glu) c.3634C>G (p.Gln1212Glu) c.3604C>G (p.Gln1202Glu) c.3529C>G (p.Gln1177Glu) c.3427C>G (p.Gln1143Glu) c.3058C>G (p.Gln1020Glu) | ClinVar dbSNP |
| 5 | g.112839501C>T | CA16029905 | APC | c.3572C>T (n.3572C>T) c.3961C>T (p.Gln1321Ter) c.*3913C>T (n.*3913C>T) c.3853C>T (p.Gln1285Ter) c.3907C>T (p.Gln1303Ter) c.2260C>T c.*3229C>T (n.*3229C>T) c.230+10529C>T c.3937C>T (p.Gln1313Ter) c.3832C>T (p.Gln1278Ter) c.3823C>T (p.Gln1275Ter) c.3784C>T (p.Gln1262Ter) c.3730C>T (p.Gln1244Ter) c.3634C>T (p.Gln1212Ter) c.3604C>T (p.Gln1202Ter) c.3529C>T (p.Gln1177Ter) c.3427C>T (p.Gln1143Ter) c.3058C>T (p.Gln1020Ter) | ClinVar dbSNP COSMIC |
| 5 | g.112839501dup | CA645543643 | APC | c.3572dup (n.3572dup) c.3961dup (p.Gln1321ProfsTer12) c.*3913dup (n.*3913dup) c.3853dup (p.Gln1285ProfsTer12) c.3907dup (p.Gln1303ProfsTer12) c.2260dup c.*3229dup (n.*3229dup) c.3907dup (p.Gln1303ProfsTer?) c.230+10529dup c.3937dup (p.Gln1313ProfsTer12) c.3832dup (p.Gln1278ProfsTer12) c.3823dup (p.Gln1275ProfsTer12) c.3784dup (p.Gln1262ProfsTer12) c.3730dup (p.Gln1244ProfsTer12) c.3634dup (p.Gln1212ProfsTer12) c.3604dup (p.Gln1202ProfsTer12) c.3529dup (p.Gln1177ProfsTer12) c.3427dup (p.Gln1143ProfsTer12) c.3058dup (p.Gln1020ProfsTer12) | COSMIC |
| 5 | g.112839502A>C | CA16029906 | APC | c.3573A>C (n.3573A>C) c.3962A>C (p.Gln1321Pro) c.*3914A>C (n.*3914A>C) c.3854A>C (p.Gln1285Pro) c.3908A>C (p.Gln1303Pro) c.2261A>C c.*3230A>C (n.*3230A>C) c.230+10530A>C c.3938A>C (p.Gln1313Pro) c.3833A>C (p.Gln1278Pro) c.3824A>C (p.Gln1275Pro) c.3785A>C (p.Gln1262Pro) c.3731A>C (p.Gln1244Pro) c.3635A>C (p.Gln1212Pro) c.3605A>C (p.Gln1202Pro) c.3530A>C (p.Gln1177Pro) c.3428A>C (p.Gln1143Pro) c.3059A>C (p.Gln1020Pro) | |
| 5 | g.112839502A>G | CA16029907 | APC | c.3573A>G (n.3573A>G) c.3962A>G (p.Gln1321Arg) c.*3914A>G (n.*3914A>G) c.3854A>G (p.Gln1285Arg) c.3908A>G (p.Gln1303Arg) c.2261A>G c.*3230A>G (n.*3230A>G) c.230+10530A>G c.3938A>G (p.Gln1313Arg) c.3833A>G (p.Gln1278Arg) c.3824A>G (p.Gln1275Arg) c.3785A>G (p.Gln1262Arg) c.3731A>G (p.Gln1244Arg) c.3635A>G (p.Gln1212Arg) c.3605A>G (p.Gln1202Arg) c.3530A>G (p.Gln1177Arg) c.3428A>G (p.Gln1143Arg) c.3059A>G (p.Gln1020Arg) | dbSNP |
| 5 | g.112839502A>T | CA16029908 | APC | c.3573A>T (n.3573A>T) c.3962A>T (p.Gln1321Leu) c.*3914A>T (n.*3914A>T) c.3854A>T (p.Gln1285Leu) c.3908A>T (p.Gln1303Leu) c.2261A>T c.*3230A>T (n.*3230A>T) c.230+10530A>T c.3938A>T (p.Gln1313Leu) c.3833A>T (p.Gln1278Leu) c.3824A>T (p.Gln1275Leu) c.3785A>T (p.Gln1262Leu) c.3731A>T (p.Gln1244Leu) c.3635A>T (p.Gln1212Leu) c.3605A>T (p.Gln1202Leu) c.3530A>T (p.Gln1177Leu) c.3428A>T (p.Gln1143Leu) c.3059A>T (p.Gln1020Leu) | ClinVar dbSNP |
| 5 | g.112839504dup | CA645543645 | APC | c.3575dup (n.3575dup) c.3964dup (p.Ile1322AsnfsTer11) c.*3916dup (n.*3916dup) c.3856dup (p.Ile1286AsnfsTer11) c.3910dup (p.Ile1304AsnfsTer11) c.2263dup c.*3232dup (n.*3232dup) c.3910dup (p.Ile1304AsnfsTer?) c.230+10532dup c.3940dup (p.Ile1314AsnfsTer11) c.3835dup (p.Ile1279AsnfsTer11) c.3826dup (p.Ile1276AsnfsTer11) c.3787dup (p.Ile1263AsnfsTer11) c.3733dup (p.Ile1245AsnfsTer11) c.3637dup (p.Ile1213AsnfsTer11) c.3607dup (p.Ile1203AsnfsTer11) c.3532dup (p.Ile1178AsnfsTer11) c.3430dup (p.Ile1144AsnfsTer11) c.3061dup (p.Ile1021AsnfsTer11) | COSMIC |
| 5 | g.112839504del | CA445963858 | APC | c.3575del (n.3575del) c.3964del (p.Ile1322Ter) c.*3916del (n.*3916del) c.3856del (p.Ile1286Ter) c.3910del (p.Ile1304Ter) c.2263del c.*3232del (n.*3232del) c.230+10532del c.3940del (p.Ile1314Ter) c.3835del (p.Ile1279Ter) c.3826del (p.Ile1276Ter) c.3787del (p.Ile1263Ter) c.3733del (p.Ile1245Ter) c.3637del (p.Ile1213Ter) c.3607del (p.Ile1203Ter) c.3532del (p.Ile1178Ter) c.3430del (p.Ile1144Ter) c.3061del (p.Ile1021Ter) | COSMIC |
| 5 | g.112839503_112839504del | CA645543644 | APC | c.3574_3575del (n.3574_3575del) c.3963_3964del (p.Gln1321HisfsTer11) c.*3915_*3916del (n.*3915_*3916del) c.3855_3856del (p.Gln1285HisfsTer11) c.3909_3910del (p.Gln1303HisfsTer11) c.2262_2263del c.*3231_*3232del (n.*3231_*3232del) c.3909_3910del (p.Gln1303HisfsTer?) c.230+10531_230+10532del c.3939_3940del (p.Gln1313HisfsTer11) c.3834_3835del (p.Gln1278HisfsTer11) c.3825_3826del (p.Gln1275HisfsTer11) c.3786_3787del (p.Gln1262HisfsTer11) c.3732_3733del (p.Gln1244HisfsTer11) c.3636_3637del (p.Gln1212HisfsTer11) c.3606_3607del (p.Gln1202HisfsTer11) c.3531_3532del (p.Gln1177HisfsTer11) c.3429_3430del (p.Gln1143HisfsTer11) c.3060_3061del (p.Gln1020HisfsTer11) | COSMIC |
| 5 | g.112839502_112839503insC | CA445963860 | APC | c.3573_3574insC (n.3573_3574insC) c.3962_3963insC (p.Gln1321HisfsTer12) c.*3914_*3915insC (n.*3914_*3915insC) c.3854_3855insC (p.Gln1285HisfsTer12) c.3908_3909insC (p.Gln1303HisfsTer12) c.2261_2262insC c.*3230_*3231insC (n.*3230_*3231insC) c.3908_3909insC (p.Gln1303HisfsTer?) c.230+10530_230+10531insC c.3938_3939insC (p.Gln1313HisfsTer12) c.3833_3834insC (p.Gln1278HisfsTer12) c.3824_3825insC (p.Gln1275HisfsTer12) c.3785_3786insC (p.Gln1262HisfsTer12) c.3731_3732insC (p.Gln1244HisfsTer12) c.3635_3636insC (p.Gln1212HisfsTer12) c.3605_3606insC (p.Gln1202HisfsTer12) c.3530_3531insC (p.Gln1177HisfsTer12) c.3428_3429insC (p.Gln1143HisfsTer12) c.3059_3060insC (p.Gln1020HisfsTer12) | |
| 5 | g.112839503A= | CA1573491116 | APC | c.3574A= (n.3574A=) c.3963A= (p.Gln1321=) c.*3915A= (n.*3915A=) c.3855A= (p.Gln1285=) c.3909A= (p.Gln1303=) c.2262A= c.*3231A= (n.*3231A=) c.230+10531A= c.3939A= (p.Gln1313=) c.3834A= (p.Gln1278=) c.3825A= (p.Gln1275=) c.3786A= (p.Gln1262=) c.3732A= (p.Gln1244=) c.3636A= (p.Gln1212=) c.3606A= (p.Gln1202=) c.3531A= (p.Gln1177=) c.3429A= (p.Gln1143=) c.3060A= (p.Gln1020=) | |
| 5 | g.112839503A>C | CA16029909 | APC | c.3574A>C (n.3574A>C) c.3963A>C (p.Gln1321His) c.*3915A>C (n.*3915A>C) c.3855A>C (p.Gln1285His) c.3909A>C (p.Gln1303His) c.2262A>C c.*3231A>C (n.*3231A>C) c.230+10531A>C c.3939A>C (p.Gln1313His) c.3834A>C (p.Gln1278His) c.3825A>C (p.Gln1275His) c.3786A>C (p.Gln1262His) c.3732A>C (p.Gln1244His) c.3636A>C (p.Gln1212His) c.3606A>C (p.Gln1202His) c.3531A>C (p.Gln1177His) c.3429A>C (p.Gln1143His) c.3060A>C (p.Gln1020His) | dbSNP |
| 5 | g.112839503A>G | CA008747 | APC | c.3574A>G (n.3574A>G) c.3963A>G (p.Gln1321=) c.*3915A>G (n.*3915A>G) c.3855A>G (p.Gln1285=) c.3909A>G (p.Gln1303=) c.2262A>G c.*3231A>G (n.*3231A>G) c.230+10531A>G c.3939A>G (p.Gln1313=) c.3834A>G (p.Gln1278=) c.3825A>G (p.Gln1275=) c.3786A>G (p.Gln1262=) c.3732A>G (p.Gln1244=) c.3636A>G (p.Gln1212=) c.3606A>G (p.Gln1202=) c.3531A>G (p.Gln1177=) c.3429A>G (p.Gln1143=) c.3060A>G (p.Gln1020=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.112839503A>T | CA16029910 | APC | c.3574A>T (n.3574A>T) c.3963A>T (p.Gln1321His) c.*3915A>T (n.*3915A>T) c.3855A>T (p.Gln1285His) c.3909A>T (p.Gln1303His) c.2262A>T c.*3231A>T (n.*3231A>T) c.230+10531A>T c.3939A>T (p.Gln1313His) c.3834A>T (p.Gln1278His) c.3825A>T (p.Gln1275His) c.3786A>T (p.Gln1262His) c.3732A>T (p.Gln1244His) c.3636A>T (p.Gln1212His) c.3606A>T (p.Gln1202His) c.3531A>T (p.Gln1177His) c.3429A>T (p.Gln1143His) c.3060A>T (p.Gln1020His) | dbSNP |
| 5 | g.112839504A= | CA1573491121 | APC | c.3575A= (n.3575A=) c.3964A= (p.Ile1322=) c.*3916A= (n.*3916A=) c.3856A= (p.Ile1286=) c.3910A= (p.Ile1304=) c.2263A= c.*3232A= (n.*3232A=) c.230+10532A= c.3940A= (p.Ile1314=) c.3835A= (p.Ile1279=) c.3826A= (p.Ile1276=) c.3787A= (p.Ile1263=) c.3733A= (p.Ile1245=) c.3637A= (p.Ile1213=) c.3607A= (p.Ile1203=) c.3532A= (p.Ile1178=) c.3430A= (p.Ile1144=) c.3061A= (p.Ile1021=) | |
| 5 | g.112839504A>C | CA16029911 | APC | c.3575A>C (n.3575A>C) c.3964A>C (p.Ile1322Leu) c.*3916A>C (n.*3916A>C) c.3856A>C (p.Ile1286Leu) c.3910A>C (p.Ile1304Leu) c.2263A>C c.*3232A>C (n.*3232A>C) c.230+10532A>C c.3940A>C (p.Ile1314Leu) c.3835A>C (p.Ile1279Leu) c.3826A>C (p.Ile1276Leu) c.3787A>C (p.Ile1263Leu) c.3733A>C (p.Ile1245Leu) c.3637A>C (p.Ile1213Leu) c.3607A>C (p.Ile1203Leu) c.3532A>C (p.Ile1178Leu) c.3430A>C (p.Ile1144Leu) c.3061A>C (p.Ile1021Leu) | |
| 5 | g.112839504A>G | CA008754 | APC | c.3575A>G (n.3575A>G) c.3964A>G (p.Ile1322Val) c.*3916A>G (n.*3916A>G) c.3856A>G (p.Ile1286Val) c.3910A>G (p.Ile1304Val) c.2263A>G c.*3232A>G (n.*3232A>G) c.230+10532A>G c.3940A>G (p.Ile1314Val) c.3835A>G (p.Ile1279Val) c.3826A>G (p.Ile1276Val) c.3787A>G (p.Ile1263Val) c.3733A>G (p.Ile1245Val) c.3637A>G (p.Ile1213Val) c.3607A>G (p.Ile1203Val) c.3532A>G (p.Ile1178Val) c.3430A>G (p.Ile1144Val) c.3061A>G (p.Ile1021Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112839504A>T | CA16029912 | APC | c.3575A>T (n.3575A>T) c.3964A>T (p.Ile1322Leu) c.*3916A>T (n.*3916A>T) c.3856A>T (p.Ile1286Leu) c.3910A>T (p.Ile1304Leu) c.2263A>T c.*3232A>T (n.*3232A>T) c.230+10532A>T c.3940A>T (p.Ile1314Leu) c.3835A>T (p.Ile1279Leu) c.3826A>T (p.Ile1276Leu) c.3787A>T (p.Ile1263Leu) c.3733A>T (p.Ile1245Leu) c.3637A>T (p.Ile1213Leu) c.3607A>T (p.Ile1203Leu) c.3532A>T (p.Ile1178Leu) c.3430A>T (p.Ile1144Leu) c.3061A>T (p.Ile1021Leu) | dbSNP |
| 5 | g.112839505_112839506del | CA645543646 | APC | c.3576_3577del (n.3576_3577del) c.3965_3966del (p.Ile1322SerfsTer10) c.*3917_*3918del (n.*3917_*3918del) c.3857_3858del (p.Ile1286SerfsTer10) c.3911_3912del (p.Ile1304SerfsTer10) c.2264_2265del c.*3233_*3234del (n.*3233_*3234del) c.3911_3912del (p.Ile1304SerfsTer?) c.230+10533_230+10534del c.3941_3942del (p.Ile1314SerfsTer10) c.3836_3837del (p.Ile1279SerfsTer10) c.3827_3828del (p.Ile1276SerfsTer10) c.3788_3789del (p.Ile1263SerfsTer10) c.3734_3735del (p.Ile1245SerfsTer10) c.3638_3639del (p.Ile1213SerfsTer10) c.3608_3609del (p.Ile1203SerfsTer10) c.3533_3534del (p.Ile1178SerfsTer10) c.3431_3432del (p.Ile1144SerfsTer10) c.3062_3063del (p.Ile1021SerfsTer10) | COSMIC |
| 5 | g.112839505del | CA445963863 | APC | c.3576del (n.3576del) c.3965del (p.Ile1322LysfsTer4) c.*3917del (n.*3917del) c.3857del (p.Ile1286LysfsTer4) c.3911del (p.Ile1304LysfsTer4) c.2264del c.*3233del (n.*3233del) c.3911del (p.Ile1304LysfsTer?) c.230+10533del c.3941del (p.Ile1314LysfsTer4) c.3836del (p.Ile1279LysfsTer4) c.3827del (p.Ile1276LysfsTer4) c.3788del (p.Ile1263LysfsTer4) c.3734del (p.Ile1245LysfsTer4) c.3638del (p.Ile1213LysfsTer4) c.3608del (p.Ile1203LysfsTer4) c.3533del (p.Ile1178LysfsTer4) c.3431del (p.Ile1144LysfsTer4) c.3062del (p.Ile1021LysfsTer4) | COSMIC |
| 5 | g.112839505T>A | CA16029913 | APC | c.3576T>A (n.3576T>A) c.3965T>A (p.Ile1322Lys) c.*3917T>A (n.*3917T>A) c.3857T>A (p.Ile1286Lys) c.3911T>A (p.Ile1304Lys) c.2264T>A c.*3233T>A (n.*3233T>A) c.230+10533T>A c.3941T>A (p.Ile1314Lys) c.3836T>A (p.Ile1279Lys) c.3827T>A (p.Ile1276Lys) c.3788T>A (p.Ile1263Lys) c.3734T>A (p.Ile1245Lys) c.3638T>A (p.Ile1213Lys) c.3608T>A (p.Ile1203Lys) c.3533T>A (p.Ile1178Lys) c.3431T>A (p.Ile1144Lys) c.3062T>A (p.Ile1021Lys) | dbSNP |
| 5 | g.112839505T>C | CA16029914 | APC | c.3576T>C (n.3576T>C) c.3965T>C (p.Ile1322Thr) c.*3917T>C (n.*3917T>C) c.3857T>C (p.Ile1286Thr) c.3911T>C (p.Ile1304Thr) c.2264T>C c.*3233T>C (n.*3233T>C) c.230+10533T>C c.3941T>C (p.Ile1314Thr) c.3836T>C (p.Ile1279Thr) c.3827T>C (p.Ile1276Thr) c.3788T>C (p.Ile1263Thr) c.3734T>C (p.Ile1245Thr) c.3638T>C (p.Ile1213Thr) c.3608T>C (p.Ile1203Thr) c.3533T>C (p.Ile1178Thr) c.3431T>C (p.Ile1144Thr) c.3062T>C (p.Ile1021Thr) | ClinVar dbSNP |
| 5 | g.112839505T>G | CA16029915 | APC | c.3576T>G (n.3576T>G) c.3965T>G (p.Ile1322Arg) c.*3917T>G (n.*3917T>G) c.3857T>G (p.Ile1286Arg) c.3911T>G (p.Ile1304Arg) c.2264T>G c.*3233T>G (n.*3233T>G) c.230+10533T>G c.3941T>G (p.Ile1314Arg) c.3836T>G (p.Ile1279Arg) c.3827T>G (p.Ile1276Arg) c.3788T>G (p.Ile1263Arg) c.3734T>G (p.Ile1245Arg) c.3638T>G (p.Ile1213Arg) c.3608T>G (p.Ile1203Arg) c.3533T>G (p.Ile1178Arg) c.3431T>G (p.Ile1144Arg) c.3062T>G (p.Ile1021Arg) | ClinVar dbSNP |
| 5 | g.112839505T= | CA1573491127 | APC | c.3576T= (n.3576T=) c.3965T= (p.Ile1322=) c.*3917T= (n.*3917T=) c.3857T= (p.Ile1286=) c.3911T= (p.Ile1304=) c.2264T= c.*3233T= (n.*3233T=) c.230+10533T= c.3941T= (p.Ile1314=) c.3836T= (p.Ile1279=) c.3827T= (p.Ile1276=) c.3788T= (p.Ile1263=) c.3734T= (p.Ile1245=) c.3638T= (p.Ile1213=) c.3608T= (p.Ile1203=) c.3533T= (p.Ile1178=) c.3431T= (p.Ile1144=) c.3062T= (p.Ile1021=) | |
| 5 | g.112839505_112839508delinsTAGC | CA1573491125 | APC | c.3576_3579delinsTAGC (n.3576_3579delinsTAGC) c.3965_3968delinsTAGC (p.Ile1322=) c.*3917_*3920delinsTAGC (n.*3917_*3920delinsTAGC) c.3857_3860delinsTAGC (p.Ile1286=) c.3911_3914delinsTAGC (p.Ile1304=) c.2264_2267delinsTAGC c.*3233_*3236delinsTAGC (n.*3233_*3236delinsTAGC) c.230+10533_230+10536delinsTAGC c.3941_3944delinsTAGC (p.Ile1314=) c.3836_3839delinsTAGC (p.Ile1279=) c.3827_3830delinsTAGC (p.Ile1276=) c.3788_3791delinsTAGC (p.Ile1263=) c.3734_3737delinsTAGC (p.Ile1245=) c.3638_3641delinsTAGC (p.Ile1213=) c.3608_3611delinsTAGC (p.Ile1203=) c.3533_3536delinsTAGC (p.Ile1178=) c.3431_3434delinsTAGC (p.Ile1144=) c.3062_3065delinsTAGC (p.Ile1021=) | |
| 5 | g.112839506del | CA445963866 | APC | c.3577del (n.3577del) c.3966del (p.Ile1322MetfsTer4) c.*3918del (n.*3918del) c.3858del (p.Ile1286MetfsTer4) c.3912del (p.Ile1304MetfsTer4) c.2265del c.*3234del (n.*3234del) c.3912del (p.Ile1304MetfsTer?) c.230+10534del c.3942del (p.Ile1314MetfsTer4) c.3837del (p.Ile1279MetfsTer4) c.3828del (p.Ile1276MetfsTer4) c.3789del (p.Ile1263MetfsTer4) c.3735del (p.Ile1245MetfsTer4) c.3639del (p.Ile1213MetfsTer4) c.3609del (p.Ile1203MetfsTer4) c.3534del (p.Ile1178MetfsTer4) c.3432del (p.Ile1144MetfsTer4) c.3063del (p.Ile1021MetfsTer4) | COSMIC |