| 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.112839330_112839415del | CA658760542 | APC | c.3401_3486del (n.3401_3486del) c.3790_3875del (p.Ala1264Ter) c.*3742_*3827del (n.*3742_*3827del) c.3682_3767del (p.Ala1228Ter) c.3736_3821del (p.Ala1246Ter) c.2089_2174del c.*3058_*3143del (n.*3058_*3143del) c.230+10358_230+10443del c.3766_3851del (p.Ala1256Ter) c.3661_3746del (p.Ala1221Ter) c.3652_3737del (p.Ala1218Ter) c.3613_3698del (p.Ala1205Ter) c.3559_3644del (p.Ala1187Ter) c.3463_3548del (p.Ala1155Ter) c.3433_3518del (p.Ala1145Ter) c.3358_3443del (p.Ala1120Ter) c.3256_3341del (p.Ala1086Ter) c.2887_2972del (p.Ala963Ter) | |
| 5 | g.112839356_112839449del | CA2573138697 | APC | c.3427_3520del (n.3427_3520del) c.3816_3909del (p.Ile1272MetfsTer3) c.*3768_*3861del (n.*3768_*3861del) c.3708_3801del (p.Ile1236MetfsTer3) c.3762_3855del (p.Ile1254MetfsTer3) c.2115_2208del c.*3084_*3177del (n.*3084_*3177del) c.230+10384_230+10477del c.3792_3885del (p.Ile1264MetfsTer3) c.3687_3780del (p.Ile1229MetfsTer3) c.3678_3771del (p.Ile1226MetfsTer3) c.3639_3732del (p.Ile1213MetfsTer3) c.3585_3678del (p.Ile1195MetfsTer3) c.3489_3582del (p.Ile1163MetfsTer3) c.3459_3552del (p.Ile1153MetfsTer3) c.3384_3477del (p.Ile1128MetfsTer3) c.3282_3375del (p.Ile1094MetfsTer3) c.2913_3006del (p.Ile971MetfsTer3) | ClinVar dbSNP |
| 5 | g.112839401_112839419del | CA2581463398 | APC | c.3472_3490del (n.3472_3490del) c.3861_3879del (p.Cys1288HisfsTer12) c.*3813_*3831del (n.*3813_*3831del) c.3753_3771del (p.Cys1252HisfsTer12) c.3807_3825del (p.Cys1270HisfsTer12) c.2160_2178del c.*3129_*3147del (n.*3129_*3147del) c.230+10429_230+10447del c.3837_3855del (p.Cys1280HisfsTer12) c.3732_3750del (p.Cys1245HisfsTer12) c.3723_3741del (p.Cys1242HisfsTer12) c.3684_3702del (p.Cys1229HisfsTer12) c.3630_3648del (p.Cys1211HisfsTer12) c.3534_3552del (p.Cys1179HisfsTer12) c.3504_3522del (p.Cys1169HisfsTer12) c.3429_3447del (p.Cys1144HisfsTer12) c.3327_3345del (p.Cys1110HisfsTer12) c.2958_2976del (p.Cys987HisfsTer12) | |
| 5 | g.112839411_112839466dup | CA645543604 | APC | c.3482_3537dup (n.3482_3537dup) c.3871_3926dup (p.Thr1310AspfsTer15) c.*3823_*3878dup (n.*3823_*3878dup) c.3763_3818dup (p.Thr1274AspfsTer15) c.3817_3872dup (p.Thr1292AspfsTer15) c.2170_2225dup c.*3139_*3194dup (n.*3139_*3194dup) c.230+10439_230+10494dup c.3847_3902dup (p.Thr1302AspfsTer15) c.3742_3797dup (p.Thr1267AspfsTer15) c.3733_3788dup (p.Thr1264AspfsTer15) c.3694_3749dup (p.Thr1251AspfsTer15) c.3640_3695dup (p.Thr1233AspfsTer15) c.3544_3599dup (p.Thr1201AspfsTer15) c.3514_3569dup (p.Thr1191AspfsTer15) c.3439_3494dup (p.Thr1166AspfsTer15) c.3337_3392dup (p.Thr1132AspfsTer15) c.2968_3023dup (p.Thr1009AspfsTer15) | COSMIC |
| 5 | g.112839412_112839416del | CA658760580 | APC | c.3483_3487del (n.3483_3487del) c.3872_3876del (p.Arg1291LysfsTer10) c.*3824_*3828del (n.*3824_*3828del) c.3764_3768del (p.Arg1255LysfsTer10) c.3818_3822del (p.Arg1273LysfsTer10) c.2171_2175del c.*3140_*3144del (n.*3140_*3144del) c.230+10440_230+10444del c.3848_3852del (p.Arg1283LysfsTer10) c.3743_3747del (p.Arg1248LysfsTer10) c.3734_3738del (p.Arg1245LysfsTer10) c.3695_3699del (p.Arg1232LysfsTer10) c.3641_3645del (p.Arg1214LysfsTer10) c.3545_3549del (p.Arg1182LysfsTer10) c.3515_3519del (p.Arg1172LysfsTer10) c.3440_3444del (p.Arg1147LysfsTer10) c.3338_3342del (p.Arg1113LysfsTer10) c.2969_2973del (p.Arg990LysfsTer10) | |
| 5 | g.112839413_112839417dup | CA2582341538 | APC | c.3484_3488dup (n.3484_3488dup) c.3873_3877dup (p.Ser1293AsnfsTer15) c.*3825_*3829dup (n.*3825_*3829dup) c.3765_3769dup (p.Ser1257AsnfsTer15) c.3819_3823dup (p.Ser1275AsnfsTer15) c.2172_2176dup c.*3141_*3145dup (n.*3141_*3145dup) c.230+10441_230+10445dup c.3849_3853dup (p.Ser1285AsnfsTer15) c.3744_3748dup (p.Ser1250AsnfsTer15) c.3735_3739dup (p.Ser1247AsnfsTer15) c.3696_3700dup (p.Ser1234AsnfsTer15) c.3642_3646dup (p.Ser1216AsnfsTer15) c.3546_3550dup (p.Ser1184AsnfsTer15) c.3516_3520dup (p.Ser1174AsnfsTer15) c.3441_3445dup (p.Ser1149AsnfsTer15) c.3339_3343dup (p.Ser1115AsnfsTer15) c.2970_2974dup (p.Ser992AsnfsTer15) | |
| 5 | g.112839415G>A | CA16029714 | APC | c.3486G>A (n.3486G>A) c.3875G>A (p.Cys1292Tyr) c.*3827G>A (n.*3827G>A) c.3767G>A (p.Cys1256Tyr) c.3821G>A (p.Cys1274Tyr) c.2174G>A c.*3143G>A (n.*3143G>A) c.230+10443G>A c.3851G>A (p.Cys1284Tyr) c.3746G>A (p.Cys1249Tyr) c.3737G>A (p.Cys1246Tyr) c.3698G>A (p.Cys1233Tyr) c.3644G>A (p.Cys1215Tyr) c.3548G>A (p.Cys1183Tyr) c.3518G>A (p.Cys1173Tyr) c.3443G>A (p.Cys1148Tyr) c.3341G>A (p.Cys1114Tyr) c.2972G>A (p.Cys991Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.112839415G>C | CA16029715 | APC | c.3486G>C (n.3486G>C) c.3875G>C (p.Cys1292Ser) c.*3827G>C (n.*3827G>C) c.3767G>C (p.Cys1256Ser) c.3821G>C (p.Cys1274Ser) c.2174G>C c.*3143G>C (n.*3143G>C) c.230+10443G>C c.3851G>C (p.Cys1284Ser) c.3746G>C (p.Cys1249Ser) c.3737G>C (p.Cys1246Ser) c.3698G>C (p.Cys1233Ser) c.3644G>C (p.Cys1215Ser) c.3548G>C (p.Cys1183Ser) c.3518G>C (p.Cys1173Ser) c.3443G>C (p.Cys1148Ser) c.3341G>C (p.Cys1114Ser) c.2972G>C (p.Cys991Ser) | dbSNP gnomAD v4 |
| 5 | g.112839415G= | CA1573490694 | APC | c.3486G= (n.3486G=) c.3875G= (p.Cys1292=) c.*3827G= (n.*3827G=) c.3767G= (p.Cys1256=) c.3821G= (p.Cys1274=) c.2174G= c.*3143G= (n.*3143G=) c.230+10443G= c.3851G= (p.Cys1284=) c.3746G= (p.Cys1249=) c.3737G= (p.Cys1246=) c.3698G= (p.Cys1233=) c.3644G= (p.Cys1215=) c.3548G= (p.Cys1183=) c.3518G= (p.Cys1173=) c.3443G= (p.Cys1148=) c.3341G= (p.Cys1114=) c.2972G= (p.Cys991=) | |
| 5 | g.112839415G>T | CA16029716 | APC | c.3486G>T (n.3486G>T) c.3875G>T (p.Cys1292Phe) c.*3827G>T (n.*3827G>T) c.3767G>T (p.Cys1256Phe) c.3821G>T (p.Cys1274Phe) c.2174G>T c.*3143G>T (n.*3143G>T) c.230+10443G>T c.3851G>T (p.Cys1284Phe) c.3746G>T (p.Cys1249Phe) c.3737G>T (p.Cys1246Phe) c.3698G>T (p.Cys1233Phe) c.3644G>T (p.Cys1215Phe) c.3548G>T (p.Cys1183Phe) c.3518G>T (p.Cys1173Phe) c.3443G>T (p.Cys1148Phe) c.3341G>T (p.Cys1114Phe) c.2972G>T (p.Cys991Phe) | ClinVar dbSNP |
| 5 | g.112839415dup | CA2695204976 | APC | c.3486dup (n.3486dup) c.3875dup (p.Cys1292TrpfsTer2) c.*3827dup (n.*3827dup) c.3767dup (p.Cys1256TrpfsTer2) c.3821dup (p.Cys1274TrpfsTer2) c.2174dup c.*3143dup (n.*3143dup) c.230+10443dup c.3851dup (p.Cys1284TrpfsTer2) c.3746dup (p.Cys1249TrpfsTer2) c.3737dup (p.Cys1246TrpfsTer2) c.3698dup (p.Cys1233TrpfsTer2) c.3644dup (p.Cys1215TrpfsTer2) c.3548dup (p.Cys1183TrpfsTer2) c.3518dup (p.Cys1173TrpfsTer2) c.3443dup (p.Cys1148TrpfsTer2) c.3341dup (p.Cys1114TrpfsTer2) c.2972dup (p.Cys991TrpfsTer2) | |
| 5 | g.112839417_112839419del | CA2580073053 | APC | c.3488_3490del (n.3488_3490del) c.3877_3879del (p.Ser1293del) c.*3829_*3831del (n.*3829_*3831del) c.3769_3771del (p.Ser1257del) c.3823_3825del (p.Ser1275del) c.2176_2178del c.*3145_*3147del (n.*3145_*3147del) c.230+10445_230+10447del c.3853_3855del (p.Ser1285del) c.3748_3750del (p.Ser1250del) c.3739_3741del (p.Ser1247del) c.3700_3702del (p.Ser1234del) c.3646_3648del (p.Ser1216del) c.3550_3552del (p.Ser1184del) c.3520_3522del (p.Ser1174del) c.3445_3447del (p.Ser1149del) c.3343_3345del (p.Ser1115del) c.2974_2976del (p.Ser992del) | ClinVar |
| 5 | g.112839416del | CA445963719 | APC | c.3487del (n.3487del) c.3876del (p.Cys1292Ter) c.*3828del (n.*3828del) c.3768del (p.Cys1256Ter) c.3822del (p.Cys1274Ter) c.2175del c.*3144del (n.*3144del) c.230+10444del c.3852del (p.Cys1284Ter) c.3747del (p.Cys1249Ter) c.3738del (p.Cys1246Ter) c.3699del (p.Cys1233Ter) c.3645del (p.Cys1215Ter) c.3549del (p.Cys1183Ter) c.3519del (p.Cys1173Ter) c.3444del (p.Cys1148Ter) c.3342del (p.Cys1114Ter) c.2973del (p.Cys991Ter) | COSMIC |
| 5 | g.112839416T>A | CA16029717 | APC | c.3487T>A (n.3487T>A) c.3876T>A (p.Cys1292Ter) c.*3828T>A (n.*3828T>A) c.3768T>A (p.Cys1256Ter) c.3822T>A (p.Cys1274Ter) c.2175T>A c.*3144T>A (n.*3144T>A) c.230+10444T>A c.3852T>A (p.Cys1284Ter) c.3747T>A (p.Cys1249Ter) c.3738T>A (p.Cys1246Ter) c.3699T>A (p.Cys1233Ter) c.3645T>A (p.Cys1215Ter) c.3549T>A (p.Cys1183Ter) c.3519T>A (p.Cys1173Ter) c.3444T>A (p.Cys1148Ter) c.3342T>A (p.Cys1114Ter) c.2973T>A (p.Cys991Ter) | ClinVar dbSNP |
| 5 | g.112839416T>C | CA445963718 | APC | c.3487T>C (n.3487T>C) c.3876T>C (p.Cys1292=) c.*3828T>C (n.*3828T>C) c.3768T>C (p.Cys1256=) c.3822T>C (p.Cys1274=) c.2175T>C c.*3144T>C (n.*3144T>C) c.230+10444T>C c.3852T>C (p.Cys1284=) c.3747T>C (p.Cys1249=) c.3738T>C (p.Cys1246=) c.3699T>C (p.Cys1233=) c.3645T>C (p.Cys1215=) c.3549T>C (p.Cys1183=) c.3519T>C (p.Cys1173=) c.3444T>C (p.Cys1148=) c.3342T>C (p.Cys1114=) c.2973T>C (p.Cys991=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112839416T>G | CA16029718 | APC | c.3487T>G (n.3487T>G) c.3876T>G (p.Cys1292Trp) c.*3828T>G (n.*3828T>G) c.3768T>G (p.Cys1256Trp) c.3822T>G (p.Cys1274Trp) c.2175T>G c.*3144T>G (n.*3144T>G) c.230+10444T>G c.3852T>G (p.Cys1284Trp) c.3747T>G (p.Cys1249Trp) c.3738T>G (p.Cys1246Trp) c.3699T>G (p.Cys1233Trp) c.3645T>G (p.Cys1215Trp) c.3549T>G (p.Cys1183Trp) c.3519T>G (p.Cys1173Trp) c.3444T>G (p.Cys1148Trp) c.3342T>G (p.Cys1114Trp) c.2973T>G (p.Cys991Trp) | dbSNP |
| 5 | g.112839416T= | CA1573490700 | APC | c.3487T= (n.3487T=) c.3876T= (p.Cys1292=) c.*3828T= (n.*3828T=) c.3768T= (p.Cys1256=) c.3822T= (p.Cys1274=) c.2175T= c.*3144T= (n.*3144T=) c.230+10444T= c.3852T= (p.Cys1284=) c.3747T= (p.Cys1249=) c.3738T= (p.Cys1246=) c.3699T= (p.Cys1233=) c.3645T= (p.Cys1215=) c.3549T= (p.Cys1183=) c.3519T= (p.Cys1173=) c.3444T= (p.Cys1148=) c.3342T= (p.Cys1114=) c.2973T= (p.Cys991=) | |
| 5 | g.112839418_112839425del | CA658760582 | APC | c.3489_3496del (n.3489_3496del) c.3878_3885del (p.Ser1293IlefsTer7) c.*3830_*3837del (n.*3830_*3837del) c.3770_3777del (p.Ser1257IlefsTer7) c.3824_3831del (p.Ser1275IlefsTer7) c.2177_2184del c.*3146_*3153del (n.*3146_*3153del) c.230+10446_230+10453del c.3854_3861del (p.Ser1285IlefsTer7) c.3749_3756del (p.Ser1250IlefsTer7) c.3740_3747del (p.Ser1247IlefsTer7) c.3701_3708del (p.Ser1234IlefsTer7) c.3647_3654del (p.Ser1216IlefsTer7) c.3551_3558del (p.Ser1184IlefsTer7) c.3521_3528del (p.Ser1174IlefsTer7) c.3446_3453del (p.Ser1149IlefsTer7) c.3344_3351del (p.Ser1115IlefsTer7) c.2975_2982del (p.Ser992IlefsTer7) | |
| 5 | g.112839417A>C | CA16029719 | APC | c.3488A>C (n.3488A>C) c.3877A>C (p.Ser1293Arg) c.*3829A>C (n.*3829A>C) c.3769A>C (p.Ser1257Arg) c.3823A>C (p.Ser1275Arg) c.2176A>C c.*3145A>C (n.*3145A>C) c.230+10445A>C c.3853A>C (p.Ser1285Arg) c.3748A>C (p.Ser1250Arg) c.3739A>C (p.Ser1247Arg) c.3700A>C (p.Ser1234Arg) c.3646A>C (p.Ser1216Arg) c.3550A>C (p.Ser1184Arg) c.3520A>C (p.Ser1174Arg) c.3445A>C (p.Ser1149Arg) c.3343A>C (p.Ser1115Arg) c.2974A>C (p.Ser992Arg) | |
| 5 | g.112839417A>G | CA16029720 | APC | c.3488A>G (n.3488A>G) c.3877A>G (p.Ser1293Gly) c.*3829A>G (n.*3829A>G) c.3769A>G (p.Ser1257Gly) c.3823A>G (p.Ser1275Gly) c.2176A>G c.*3145A>G (n.*3145A>G) c.230+10445A>G c.3853A>G (p.Ser1285Gly) c.3748A>G (p.Ser1250Gly) c.3739A>G (p.Ser1247Gly) c.3700A>G (p.Ser1234Gly) c.3646A>G (p.Ser1216Gly) c.3550A>G (p.Ser1184Gly) c.3520A>G (p.Ser1174Gly) c.3445A>G (p.Ser1149Gly) c.3343A>G (p.Ser1115Gly) c.2974A>G (p.Ser992Gly) | dbSNP gnomAD v4 |
| 5 | g.112839417A>T | CA16029721 | APC | c.3488A>T (n.3488A>T) c.3877A>T (p.Ser1293Cys) c.*3829A>T (n.*3829A>T) c.3769A>T (p.Ser1257Cys) c.3823A>T (p.Ser1275Cys) c.2176A>T c.*3145A>T (n.*3145A>T) c.230+10445A>T c.3853A>T (p.Ser1285Cys) c.3748A>T (p.Ser1250Cys) c.3739A>T (p.Ser1247Cys) c.3700A>T (p.Ser1234Cys) c.3646A>T (p.Ser1216Cys) c.3550A>T (p.Ser1184Cys) c.3520A>T (p.Ser1174Cys) c.3445A>T (p.Ser1149Cys) c.3343A>T (p.Ser1115Cys) c.2974A>T (p.Ser992Cys) | dbSNP gnomAD v4 |
| 5 | g.112839417_112839418delinsT | CA2695204977 | APC | c.3488_3489delinsT (n.3488_3489delinsT) c.3877_3878delinsT (p.Ser1293PhefsTer13) c.*3829_*3830delinsT (n.*3829_*3830delinsT) c.3769_3770delinsT (p.Ser1257PhefsTer13) c.3823_3824delinsT (p.Ser1275PhefsTer13) c.2176_2177delinsT c.*3145_*3146delinsT (n.*3145_*3146delinsT) c.230+10445_230+10446delinsT c.3853_3854delinsT (p.Ser1285PhefsTer13) c.3748_3749delinsT (p.Ser1250PhefsTer13) c.3739_3740delinsT (p.Ser1247PhefsTer13) c.3700_3701delinsT (p.Ser1234PhefsTer13) c.3646_3647delinsT (p.Ser1216PhefsTer13) c.3550_3551delinsT (p.Ser1184PhefsTer13) c.3520_3521delinsT (p.Ser1174PhefsTer13) c.3445_3446delinsT (p.Ser1149PhefsTer13) c.3343_3344delinsT (p.Ser1115PhefsTer13) c.2974_2975delinsT (p.Ser992PhefsTer13) | |
| 5 | g.112839418G>A | CA16029722 | APC | c.3489G>A (n.3489G>A) c.3878G>A (p.Ser1293Asn) c.*3830G>A (n.*3830G>A) c.3770G>A (p.Ser1257Asn) c.3824G>A (p.Ser1275Asn) c.2177G>A c.*3146G>A (n.*3146G>A) c.230+10446G>A c.3854G>A (p.Ser1285Asn) c.3749G>A (p.Ser1250Asn) c.3740G>A (p.Ser1247Asn) c.3701G>A (p.Ser1234Asn) c.3647G>A (p.Ser1216Asn) c.3551G>A (p.Ser1184Asn) c.3521G>A (p.Ser1174Asn) c.3446G>A (p.Ser1149Asn) c.3344G>A (p.Ser1115Asn) c.2975G>A (p.Ser992Asn) | ClinVar dbSNP COSMIC |
| 5 | g.112839418G>C | CA008695 | APC | c.3489G>C (n.3489G>C) c.3878G>C (p.Ser1293Thr) c.*3830G>C (n.*3830G>C) c.3770G>C (p.Ser1257Thr) c.3824G>C (p.Ser1275Thr) c.2177G>C c.*3146G>C (n.*3146G>C) c.230+10446G>C c.3854G>C (p.Ser1285Thr) c.3749G>C (p.Ser1250Thr) c.3740G>C (p.Ser1247Thr) c.3701G>C (p.Ser1234Thr) c.3647G>C (p.Ser1216Thr) c.3551G>C (p.Ser1184Thr) c.3521G>C (p.Ser1174Thr) c.3446G>C (p.Ser1149Thr) c.3344G>C (p.Ser1115Thr) c.2975G>C (p.Ser992Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112839418G= | CA1573490714 | APC | c.3489G= (n.3489G=) c.3878G= (p.Ser1293=) c.*3830G= (n.*3830G=) c.3770G= (p.Ser1257=) c.3824G= (p.Ser1275=) c.2177G= c.*3146G= (n.*3146G=) c.230+10446G= c.3854G= (p.Ser1285=) c.3749G= (p.Ser1250=) c.3740G= (p.Ser1247=) c.3701G= (p.Ser1234=) c.3647G= (p.Ser1216=) c.3551G= (p.Ser1184=) c.3521G= (p.Ser1174=) c.3446G= (p.Ser1149=) c.3344G= (p.Ser1115=) c.2975G= (p.Ser992=) | |
| 5 | g.112839418G>T | CA16029723 | APC | c.3489G>T (n.3489G>T) c.3878G>T (p.Ser1293Ile) c.*3830G>T (n.*3830G>T) c.3770G>T (p.Ser1257Ile) c.3824G>T (p.Ser1275Ile) c.2177G>T c.*3146G>T (n.*3146G>T) c.230+10446G>T c.3854G>T (p.Ser1285Ile) c.3749G>T (p.Ser1250Ile) c.3740G>T (p.Ser1247Ile) c.3701G>T (p.Ser1234Ile) c.3647G>T (p.Ser1216Ile) c.3551G>T (p.Ser1184Ile) c.3521G>T (p.Ser1174Ile) c.3446G>T (p.Ser1149Ile) c.3344G>T (p.Ser1115Ile) c.2975G>T (p.Ser992Ile) | dbSNP |
| 5 | g.112839419T>A | CA16029724 | APC | c.3490T>A (n.3490T>A) c.3879T>A (p.Ser1293Arg) c.*3831T>A (n.*3831T>A) c.3771T>A (p.Ser1257Arg) c.3825T>A (p.Ser1275Arg) c.2178T>A c.*3147T>A (n.*3147T>A) c.230+10447T>A c.3855T>A (p.Ser1285Arg) c.3750T>A (p.Ser1250Arg) c.3741T>A (p.Ser1247Arg) c.3702T>A (p.Ser1234Arg) c.3648T>A (p.Ser1216Arg) c.3552T>A (p.Ser1184Arg) c.3522T>A (p.Ser1174Arg) c.3447T>A (p.Ser1149Arg) c.3345T>A (p.Ser1115Arg) c.2976T>A (p.Ser992Arg) | dbSNP |
| 5 | g.112839419T>C | CA445963720 | APC | c.3490T>C (n.3490T>C) c.3879T>C (p.Ser1293=) c.*3831T>C (n.*3831T>C) c.3771T>C (p.Ser1257=) c.3825T>C (p.Ser1275=) c.2178T>C c.*3147T>C (n.*3147T>C) c.230+10447T>C c.3855T>C (p.Ser1285=) c.3750T>C (p.Ser1250=) c.3741T>C (p.Ser1247=) c.3702T>C (p.Ser1234=) c.3648T>C (p.Ser1216=) c.3552T>C (p.Ser1184=) c.3522T>C (p.Ser1174=) c.3447T>C (p.Ser1149=) c.3345T>C (p.Ser1115=) c.2976T>C (p.Ser992=) | dbSNP |
| 5 | g.112839419T>G | CA16029725 | APC | c.3490T>G (n.3490T>G) c.3879T>G (p.Ser1293Arg) c.*3831T>G (n.*3831T>G) c.3771T>G (p.Ser1257Arg) c.3825T>G (p.Ser1275Arg) c.2178T>G c.*3147T>G (n.*3147T>G) c.230+10447T>G c.3855T>G (p.Ser1285Arg) c.3750T>G (p.Ser1250Arg) c.3741T>G (p.Ser1247Arg) c.3702T>G (p.Ser1234Arg) c.3648T>G (p.Ser1216Arg) c.3552T>G (p.Ser1184Arg) c.3522T>G (p.Ser1174Arg) c.3447T>G (p.Ser1149Arg) c.3345T>G (p.Ser1115Arg) c.2976T>G (p.Ser992Arg) | |
| 5 | g.112839420del | CA2695204978 | APC | c.3491del (n.3491del) c.3880del (p.Ser1294HisfsTer12) c.*3832del (n.*3832del) c.3772del (p.Ser1258HisfsTer12) c.3826del (p.Ser1276HisfsTer12) c.2179del c.*3148del (n.*3148del) c.230+10448del c.3856del (p.Ser1286HisfsTer12) c.3751del (p.Ser1251HisfsTer12) c.3742del (p.Ser1248HisfsTer12) c.3703del (p.Ser1235HisfsTer12) c.3649del (p.Ser1217HisfsTer12) c.3553del (p.Ser1185HisfsTer12) c.3523del (p.Ser1175HisfsTer12) c.3448del (p.Ser1150HisfsTer12) c.3346del (p.Ser1116HisfsTer12) c.2977del (p.Ser993HisfsTer12) | |
| 5 | g.112839421_112839424del | CA658760583 | APC | c.3492_3495del (n.3492_3495del) c.3881_3884del (p.Ser1294TyrfsTer11) c.*3833_*3836del (n.*3833_*3836del) c.3773_3776del (p.Ser1258TyrfsTer11) c.3827_3830del (p.Ser1276TyrfsTer11) c.2180_2183del c.*3149_*3152del (n.*3149_*3152del) c.230+10449_230+10452del c.3857_3860del (p.Ser1286TyrfsTer11) c.3752_3755del (p.Ser1251TyrfsTer11) c.3743_3746del (p.Ser1248TyrfsTer11) c.3704_3707del (p.Ser1235TyrfsTer11) c.3650_3653del (p.Ser1217TyrfsTer11) c.3554_3557del (p.Ser1185TyrfsTer11) c.3524_3527del (p.Ser1175TyrfsTer11) c.3449_3452del (p.Ser1150TyrfsTer11) c.3347_3350del (p.Ser1116TyrfsTer11) c.2978_2981del (p.Ser993TyrfsTer11) | |
| 5 | g.112839420T>A | CA16029726 | APC | c.3491T>A (n.3491T>A) c.3880T>A (p.Ser1294Thr) c.*3832T>A (n.*3832T>A) c.3772T>A (p.Ser1258Thr) c.3826T>A (p.Ser1276Thr) c.2179T>A c.*3148T>A (n.*3148T>A) c.230+10448T>A c.3856T>A (p.Ser1286Thr) c.3751T>A (p.Ser1251Thr) c.3742T>A (p.Ser1248Thr) c.3703T>A (p.Ser1235Thr) c.3649T>A (p.Ser1217Thr) c.3553T>A (p.Ser1185Thr) c.3523T>A (p.Ser1175Thr) c.3448T>A (p.Ser1150Thr) c.3346T>A (p.Ser1116Thr) c.2977T>A (p.Ser993Thr) | dbSNP COSMIC |
| 5 | g.112839420T>C | CA16029727 | APC | c.3491T>C (n.3491T>C) c.3880T>C (p.Ser1294Pro) c.*3832T>C (n.*3832T>C) c.3772T>C (p.Ser1258Pro) c.3826T>C (p.Ser1276Pro) c.2179T>C c.*3148T>C (n.*3148T>C) c.230+10448T>C c.3856T>C (p.Ser1286Pro) c.3751T>C (p.Ser1251Pro) c.3742T>C (p.Ser1248Pro) c.3703T>C (p.Ser1235Pro) c.3649T>C (p.Ser1217Pro) c.3553T>C (p.Ser1185Pro) c.3523T>C (p.Ser1175Pro) c.3448T>C (p.Ser1150Pro) c.3346T>C (p.Ser1116Pro) c.2977T>C (p.Ser993Pro) | dbSNP |
| 5 | g.112839420T>G | CA16029728 | APC | c.3491T>G (n.3491T>G) c.3880T>G (p.Ser1294Ala) c.*3832T>G (n.*3832T>G) c.3772T>G (p.Ser1258Ala) c.3826T>G (p.Ser1276Ala) c.2179T>G c.*3148T>G (n.*3148T>G) c.230+10448T>G c.3856T>G (p.Ser1286Ala) c.3751T>G (p.Ser1251Ala) c.3742T>G (p.Ser1248Ala) c.3703T>G (p.Ser1235Ala) c.3649T>G (p.Ser1217Ala) c.3553T>G (p.Ser1185Ala) c.3523T>G (p.Ser1175Ala) c.3448T>G (p.Ser1150Ala) c.3346T>G (p.Ser1116Ala) c.2977T>G (p.Ser993Ala) | |
| 5 | g.112839420_112839423delinsTCAT | CA1573490721 | APC | c.3491_3494delinsTCAT (n.3491_3494delinsTCAT) c.3880_3883delinsTCAT (p.Ser1294=) c.*3832_*3835delinsTCAT (n.*3832_*3835delinsTCAT) c.3772_3775delinsTCAT (p.Ser1258=) c.3826_3829delinsTCAT (p.Ser1276=) c.2179_2182delinsTCAT c.*3148_*3151delinsTCAT (n.*3148_*3151delinsTCAT) c.230+10448_230+10451delinsTCAT c.3856_3859delinsTCAT (p.Ser1286=) c.3751_3754delinsTCAT (p.Ser1251=) c.3742_3745delinsTCAT (p.Ser1248=) c.3703_3706delinsTCAT (p.Ser1235=) c.3649_3652delinsTCAT (p.Ser1217=) c.3553_3556delinsTCAT (p.Ser1185=) c.3523_3526delinsTCAT (p.Ser1175=) c.3448_3451delinsTCAT (p.Ser1150=) c.3346_3349delinsTCAT (p.Ser1116=) c.2977_2980delinsTCAT (p.Ser993=) | |
| 5 | g.112839421_112839423del | CA2499217480 | APC | c.3492_3494del (n.3492_3494del) c.3881_3883del (p.Ser1294del) c.*3833_*3835del (n.*3833_*3835del) c.3773_3775del (p.Ser1258del) c.3827_3829del (p.Ser1276del) c.2180_2182del c.*3149_*3151del (n.*3149_*3151del) c.230+10449_230+10451del c.3857_3859del (p.Ser1286del) c.3752_3754del (p.Ser1251del) c.3743_3745del (p.Ser1248del) c.3704_3706del (p.Ser1235del) c.3650_3652del (p.Ser1217del) c.3554_3556del (p.Ser1185del) c.3524_3526del (p.Ser1175del) c.3449_3451del (p.Ser1150del) c.3347_3349del (p.Ser1116del) c.2978_2980del (p.Ser993del) | ClinVar dbSNP |
| 5 | g.112839421C>A | CA16029729 | APC | c.3492C>A (n.3492C>A) c.3881C>A (p.Ser1294Ter) c.*3833C>A (n.*3833C>A) c.3773C>A (p.Ser1258Ter) c.3827C>A (p.Ser1276Ter) c.2180C>A c.*3149C>A (n.*3149C>A) c.230+10449C>A c.3857C>A (p.Ser1286Ter) c.3752C>A (p.Ser1251Ter) c.3743C>A (p.Ser1248Ter) c.3704C>A (p.Ser1235Ter) c.3650C>A (p.Ser1217Ter) c.3554C>A (p.Ser1185Ter) c.3524C>A (p.Ser1175Ter) c.3449C>A (p.Ser1150Ter) c.3347C>A (p.Ser1116Ter) c.2978C>A (p.Ser993Ter) | ClinVar dbSNP COSMIC |
| 5 | g.112839421C= | CA1573490733 | APC | c.3492C= (n.3492C=) c.3881C= (p.Ser1294=) c.*3833C= (n.*3833C=) c.3773C= (p.Ser1258=) c.3827C= (p.Ser1276=) c.2180C= c.*3149C= (n.*3149C=) c.230+10449C= c.3857C= (p.Ser1286=) c.3752C= (p.Ser1251=) c.3743C= (p.Ser1248=) c.3704C= (p.Ser1235=) c.3650C= (p.Ser1217=) c.3554C= (p.Ser1185=) c.3524C= (p.Ser1175=) c.3449C= (p.Ser1150=) c.3347C= (p.Ser1116=) c.2978C= (p.Ser993=) | |
| 5 | g.112839421C>G | CA16029730 | APC | c.3492C>G (n.3492C>G) c.3881C>G (p.Ser1294Ter) c.*3833C>G (n.*3833C>G) c.3773C>G (p.Ser1258Ter) c.3827C>G (p.Ser1276Ter) c.2180C>G c.*3149C>G (n.*3149C>G) c.230+10449C>G c.3857C>G (p.Ser1286Ter) c.3752C>G (p.Ser1251Ter) c.3743C>G (p.Ser1248Ter) c.3704C>G (p.Ser1235Ter) c.3650C>G (p.Ser1217Ter) c.3554C>G (p.Ser1185Ter) c.3524C>G (p.Ser1175Ter) c.3449C>G (p.Ser1150Ter) c.3347C>G (p.Ser1116Ter) c.2978C>G (p.Ser993Ter) | ClinVar dbSNP COSMIC |
| 5 | g.112839421C>T | CA16029731 | APC | c.3492C>T (n.3492C>T) c.3881C>T (p.Ser1294Leu) c.*3833C>T (n.*3833C>T) c.3773C>T (p.Ser1258Leu) c.3827C>T (p.Ser1276Leu) c.2180C>T c.*3149C>T (n.*3149C>T) c.230+10449C>T c.3857C>T (p.Ser1286Leu) c.3752C>T (p.Ser1251Leu) c.3743C>T (p.Ser1248Leu) c.3704C>T (p.Ser1235Leu) c.3650C>T (p.Ser1217Leu) c.3554C>T (p.Ser1185Leu) c.3524C>T (p.Ser1175Leu) c.3449C>T (p.Ser1150Leu) c.3347C>T (p.Ser1116Leu) c.2978C>T (p.Ser993Leu) | dbSNP COSMIC |
| 5 | g.112839421_112839422dup | CA645543606 | APC | c.3492_3493dup (n.3492_3493dup) c.3881_3882dup (p.Leu1295HisfsTer12) c.*3833_*3834dup (n.*3833_*3834dup) c.3773_3774dup (p.Leu1259HisfsTer12) c.3827_3828dup (p.Leu1277HisfsTer12) c.2180_2181dup c.*3149_*3150dup (n.*3149_*3150dup) c.230+10449_230+10450dup c.3857_3858dup (p.Leu1287HisfsTer12) c.3752_3753dup (p.Leu1252HisfsTer12) c.3743_3744dup (p.Leu1249HisfsTer12) c.3704_3705dup (p.Leu1236HisfsTer12) c.3650_3651dup (p.Leu1218HisfsTer12) c.3554_3555dup (p.Leu1186HisfsTer12) c.3524_3525dup (p.Leu1176HisfsTer12) c.3449_3450dup (p.Leu1151HisfsTer12) c.3347_3348dup (p.Leu1117HisfsTer12) c.2978_2979dup (p.Leu994HisfsTer12) | COSMIC |
| 5 | g.112839421_112839423delinsA | CA645372792 | APC | c.3492_3494delinsA (n.3492_3494delinsA) c.3881_3883delinsA (p.Ser1294TyrfsTer8) c.*3833_*3835delinsA (n.*3833_*3835delinsA) c.3773_3775delinsA (p.Ser1258TyrfsTer8) c.3827_3829delinsA (p.Ser1276TyrfsTer8) c.2180_2182delinsA c.*3149_*3151delinsA (n.*3149_*3151delinsA) c.230+10449_230+10451delinsA c.3857_3859delinsA (p.Ser1286TyrfsTer8) c.3752_3754delinsA (p.Ser1251TyrfsTer8) c.3743_3745delinsA (p.Ser1248TyrfsTer8) c.3704_3706delinsA (p.Ser1235TyrfsTer8) c.3650_3652delinsA (p.Ser1217TyrfsTer8) c.3554_3556delinsA (p.Ser1185TyrfsTer8) c.3524_3526delinsA (p.Ser1175TyrfsTer8) c.3449_3451delinsA (p.Ser1150TyrfsTer8) c.3347_3349delinsA (p.Ser1116TyrfsTer8) c.2978_2980delinsA (p.Ser993TyrfsTer8) | ClinVar dbSNP |
| 5 | g.112839422A>C | CA445963723 | APC | c.3493A>C (n.3493A>C) c.3882A>C (p.Ser1294=) c.*3834A>C (n.*3834A>C) c.3774A>C (p.Ser1258=) c.3828A>C (p.Ser1276=) c.2181A>C c.*3150A>C (n.*3150A>C) c.230+10450A>C c.3858A>C (p.Ser1286=) c.3753A>C (p.Ser1251=) c.3744A>C (p.Ser1248=) c.3705A>C (p.Ser1235=) c.3651A>C (p.Ser1217=) c.3555A>C (p.Ser1185=) c.3525A>C (p.Ser1175=) c.3450A>C (p.Ser1150=) c.3348A>C (p.Ser1116=) c.2979A>C (p.Ser993=) | |
| 5 | g.112839422A>G | CA445963722 | APC | c.3493A>G (n.3493A>G) c.3882A>G (p.Ser1294=) c.*3834A>G (n.*3834A>G) c.3774A>G (p.Ser1258=) c.3828A>G (p.Ser1276=) c.2181A>G c.*3150A>G (n.*3150A>G) c.230+10450A>G c.3858A>G (p.Ser1286=) c.3753A>G (p.Ser1251=) c.3744A>G (p.Ser1248=) c.3705A>G (p.Ser1235=) c.3651A>G (p.Ser1217=) c.3555A>G (p.Ser1185=) c.3525A>G (p.Ser1175=) c.3450A>G (p.Ser1150=) c.3348A>G (p.Ser1116=) c.2979A>G (p.Ser993=) | ClinVar |
| 5 | g.112839422A>T | CA445963721 | APC | c.3493A>T (n.3493A>T) c.3882A>T (p.Ser1294=) c.*3834A>T (n.*3834A>T) c.3774A>T (p.Ser1258=) c.3828A>T (p.Ser1276=) c.2181A>T c.*3150A>T (n.*3150A>T) c.230+10450A>T c.3858A>T (p.Ser1286=) c.3753A>T (p.Ser1251=) c.3744A>T (p.Ser1248=) c.3705A>T (p.Ser1235=) c.3651A>T (p.Ser1217=) c.3555A>T (p.Ser1185=) c.3525A>T (p.Ser1175=) c.3450A>T (p.Ser1150=) c.3348A>T (p.Ser1116=) c.2979A>T (p.Ser993=) | |
| 5 | g.112839423T>A | CA16029732 | APC | c.3494T>A (n.3494T>A) c.3883T>A (p.Leu1295Ile) c.*3835T>A (n.*3835T>A) c.3775T>A (p.Leu1259Ile) c.3829T>A (p.Leu1277Ile) c.2182T>A c.*3151T>A (n.*3151T>A) c.230+10451T>A c.3859T>A (p.Leu1287Ile) c.3754T>A (p.Leu1252Ile) c.3745T>A (p.Leu1249Ile) c.3706T>A (p.Leu1236Ile) c.3652T>A (p.Leu1218Ile) c.3556T>A (p.Leu1186Ile) c.3526T>A (p.Leu1176Ile) c.3451T>A (p.Leu1151Ile) c.3349T>A (p.Leu1117Ile) c.2980T>A (p.Leu994Ile) | dbSNP |
| 5 | g.112839423T>C | CA445963724 | APC | c.3494T>C (n.3494T>C) c.3883T>C (p.Leu1295=) c.*3835T>C (n.*3835T>C) c.3775T>C (p.Leu1259=) c.3829T>C (p.Leu1277=) c.2182T>C c.*3151T>C (n.*3151T>C) c.230+10451T>C c.3859T>C (p.Leu1287=) c.3754T>C (p.Leu1252=) c.3745T>C (p.Leu1249=) c.3706T>C (p.Leu1236=) c.3652T>C (p.Leu1218=) c.3556T>C (p.Leu1186=) c.3526T>C (p.Leu1176=) c.3451T>C (p.Leu1151=) c.3349T>C (p.Leu1117=) c.2980T>C (p.Leu994=) | ClinVar dbSNP |
| 5 | g.112839423T>G | CA16029733 | APC | c.3494T>G (n.3494T>G) c.3883T>G (p.Leu1295Val) c.*3835T>G (n.*3835T>G) c.3775T>G (p.Leu1259Val) c.3829T>G (p.Leu1277Val) c.2182T>G c.*3151T>G (n.*3151T>G) c.230+10451T>G c.3859T>G (p.Leu1287Val) c.3754T>G (p.Leu1252Val) c.3745T>G (p.Leu1249Val) c.3706T>G (p.Leu1236Val) c.3652T>G (p.Leu1218Val) c.3556T>G (p.Leu1186Val) c.3526T>G (p.Leu1176Val) c.3451T>G (p.Leu1151Val) c.3349T>G (p.Leu1117Val) c.2980T>G (p.Leu994Val) | |
| 5 | g.112839424del | CA658760590 | APC | c.3495del (n.3495del) c.3884del (p.Leu1295TyrfsTer11) c.*3836del (n.*3836del) c.3776del (p.Leu1259TyrfsTer11) c.3830del (p.Leu1277TyrfsTer11) c.2183del c.*3152del (n.*3152del) c.230+10452del c.3860del (p.Leu1287TyrfsTer11) c.3755del (p.Leu1252TyrfsTer11) c.3746del (p.Leu1249TyrfsTer11) c.3707del (p.Leu1236TyrfsTer11) c.3653del (p.Leu1218TyrfsTer11) c.3557del (p.Leu1186TyrfsTer11) c.3527del (p.Leu1176TyrfsTer11) c.3452del (p.Leu1151TyrfsTer11) c.3350del (p.Leu1117TyrfsTer11) c.2981del (p.Leu994TyrfsTer11) |