| 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.112839386_112839404del | CA2582341535 | APC | c.3457_3475del (n.3457_3475del) c.3846_3864del (p.Glu1283PhefsTer17) c.*3798_*3816del (n.*3798_*3816del) c.3738_3756del (p.Glu1247PhefsTer17) c.3792_3810del (p.Glu1265PhefsTer17) c.2145_2163del c.*3114_*3132del (n.*3114_*3132del) c.230+10414_230+10432del c.3822_3840del (p.Glu1275PhefsTer17) c.3717_3735del (p.Glu1240PhefsTer17) c.3708_3726del (p.Glu1237PhefsTer17) c.3669_3687del (p.Glu1224PhefsTer17) c.3615_3633del (p.Glu1206PhefsTer17) c.3519_3537del (p.Glu1174PhefsTer17) c.3489_3507del (p.Glu1164PhefsTer17) c.3414_3432del (p.Glu1139PhefsTer17) c.3312_3330del (p.Glu1105PhefsTer17) c.2943_2961del (p.Glu982PhefsTer17) | ClinVar |
| 5 | g.112839392_112839411dup | CA2695204969 | APC | c.3463_3482dup (n.3463_3482dup) c.3852_3871dup (p.Arg1291IlefsTer22) c.*3804_*3823dup (n.*3804_*3823dup) c.3744_3763dup (p.Arg1255IlefsTer22) c.3798_3817dup (p.Arg1273IlefsTer22) c.2151_2170dup c.*3120_*3139dup (n.*3120_*3139dup) c.230+10420_230+10439dup c.3828_3847dup (p.Arg1283IlefsTer22) c.3723_3742dup (p.Arg1248IlefsTer22) c.3714_3733dup (p.Arg1245IlefsTer22) c.3675_3694dup (p.Arg1232IlefsTer22) c.3621_3640dup (p.Arg1214IlefsTer22) c.3525_3544dup (p.Arg1182IlefsTer22) c.3495_3514dup (p.Arg1172IlefsTer22) c.3420_3439dup (p.Arg1147IlefsTer22) c.3318_3337dup (p.Arg1113IlefsTer22) c.2949_2968dup (p.Arg990IlefsTer22) | |
| 5 | g.112839397_112839409del | CA658760563 | APC | c.3468_3480del (n.3468_3480del) c.3857_3869del (p.Pro1286GlnfsTer16) c.*3809_*3821del (n.*3809_*3821del) c.3749_3761del (p.Pro1250GlnfsTer16) c.3803_3815del (p.Pro1268GlnfsTer16) c.2156_2168del c.*3125_*3137del (n.*3125_*3137del) c.230+10425_230+10437del c.3833_3845del (p.Pro1278GlnfsTer16) c.3728_3740del (p.Pro1243GlnfsTer16) c.3719_3731del (p.Pro1240GlnfsTer16) c.3680_3692del (p.Pro1227GlnfsTer16) c.3626_3638del (p.Pro1209GlnfsTer16) c.3530_3542del (p.Pro1177GlnfsTer16) c.3500_3512del (p.Pro1167GlnfsTer16) c.3425_3437del (p.Pro1142GlnfsTer16) c.3323_3335del (p.Pro1108GlnfsTer16) c.2954_2966del (p.Pro985GlnfsTer16) | |
| 5 | g.112839400_112839411del | CA2695204970 | APC | c.3471_3482del (n.3471_3482del) c.3860_3871del (p.Ile1287_Ser1290del) c.*3812_*3823del (n.*3812_*3823del) c.3752_3763del (p.Ile1251_Ser1254del) c.3806_3817del (p.Ile1269_Ser1272del) c.2159_2170del c.*3128_*3139del (n.*3128_*3139del) c.230+10428_230+10439del c.3836_3847del (p.Ile1279_Ser1282del) c.3731_3742del (p.Ile1244_Ser1247del) c.3722_3733del (p.Ile1241_Ser1244del) c.3683_3694del (p.Ile1228_Ser1231del) c.3629_3640del (p.Ile1210_Ser1213del) c.3533_3544del (p.Ile1178_Ser1181del) c.3503_3514del (p.Ile1168_Ser1171del) c.3428_3439del (p.Ile1143_Ser1146del) c.3326_3337del (p.Ile1109_Ser1112del) c.2957_2968del (p.Ile986_Ser989del) | |
| 5 | g.112839398A= | CA1573490596 | APC | c.3469A= (n.3469A=) c.3858A= (p.Pro1286=) c.*3810A= (n.*3810A=) c.3750A= (p.Pro1250=) c.3804A= (p.Pro1268=) c.2157A= c.*3126A= (n.*3126A=) c.230+10426A= c.3834A= (p.Pro1278=) c.3729A= (p.Pro1243=) c.3720A= (p.Pro1240=) c.3681A= (p.Pro1227=) c.3627A= (p.Pro1209=) c.3531A= (p.Pro1177=) c.3501A= (p.Pro1167=) c.3426A= (p.Pro1142=) c.3324A= (p.Pro1108=) c.2955A= (p.Pro985=) | |
| 5 | g.112839398A>C | CA445963707 | APC | c.3469A>C (n.3469A>C) c.3858A>C (p.Pro1286=) c.*3810A>C (n.*3810A>C) c.3750A>C (p.Pro1250=) c.3804A>C (p.Pro1268=) c.2157A>C c.*3126A>C (n.*3126A>C) c.230+10426A>C c.3834A>C (p.Pro1278=) c.3729A>C (p.Pro1243=) c.3720A>C (p.Pro1240=) c.3681A>C (p.Pro1227=) c.3627A>C (p.Pro1209=) c.3531A>C (p.Pro1177=) c.3501A>C (p.Pro1167=) c.3426A>C (p.Pro1142=) c.3324A>C (p.Pro1108=) c.2955A>C (p.Pro985=) | |
| 5 | g.112839398A>G | CA10582311 | APC | c.3469A>G (n.3469A>G) c.3858A>G (p.Pro1286=) c.*3810A>G (n.*3810A>G) c.3750A>G (p.Pro1250=) c.3804A>G (p.Pro1268=) c.2157A>G c.*3126A>G (n.*3126A>G) c.230+10426A>G c.3834A>G (p.Pro1278=) c.3729A>G (p.Pro1243=) c.3720A>G (p.Pro1240=) c.3681A>G (p.Pro1227=) c.3627A>G (p.Pro1209=) c.3531A>G (p.Pro1177=) c.3501A>G (p.Pro1167=) c.3426A>G (p.Pro1142=) c.3324A>G (p.Pro1108=) c.2955A>G (p.Pro985=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.112839398A>T | CA445963705 | APC | c.3469A>T (n.3469A>T) c.3858A>T (p.Pro1286=) c.*3810A>T (n.*3810A>T) c.3750A>T (p.Pro1250=) c.3804A>T (p.Pro1268=) c.2157A>T c.*3126A>T (n.*3126A>T) c.230+10426A>T c.3834A>T (p.Pro1278=) c.3729A>T (p.Pro1243=) c.3720A>T (p.Pro1240=) c.3681A>T (p.Pro1227=) c.3627A>T (p.Pro1209=) c.3531A>T (p.Pro1177=) c.3501A>T (p.Pro1167=) c.3426A>T (p.Pro1142=) c.3324A>T (p.Pro1108=) c.2955A>T (p.Pro985=) | dbSNP |
| 5 | g.112839398_112839399del | CA2499217479 | APC | c.3469_3470del (n.3469_3470del) c.3858_3859del (p.Ile1287MetfsTer6) c.*3810_*3811del (n.*3810_*3811del) c.3750_3751del (p.Ile1251MetfsTer6) c.3804_3805del (p.Ile1269MetfsTer6) c.2157_2158del c.*3126_*3127del (n.*3126_*3127del) c.230+10426_230+10427del c.3834_3835del (p.Ile1279MetfsTer6) c.3729_3730del (p.Ile1244MetfsTer6) c.3720_3721del (p.Ile1241MetfsTer6) c.3681_3682del (p.Ile1228MetfsTer6) c.3627_3628del (p.Ile1210MetfsTer6) c.3531_3532del (p.Ile1178MetfsTer6) c.3501_3502del (p.Ile1168MetfsTer6) c.3426_3427del (p.Ile1143MetfsTer6) c.3324_3325del (p.Ile1109MetfsTer6) c.2955_2956del (p.Ile986MetfsTer6) | dbSNP |
| 5 | g.112839399dup | CA915943483 | APC | c.3470dup (n.3470dup) c.3859dup (p.Ile1287AsnfsTer7) c.*3811dup (n.*3811dup) c.3751dup (p.Ile1251AsnfsTer7) c.3805dup (p.Ile1269AsnfsTer7) c.2158dup c.*3127dup (n.*3127dup) c.230+10427dup c.3835dup (p.Ile1279AsnfsTer7) c.3730dup (p.Ile1244AsnfsTer7) c.3721dup (p.Ile1241AsnfsTer7) c.3682dup (p.Ile1228AsnfsTer7) c.3628dup (p.Ile1210AsnfsTer7) c.3532dup (p.Ile1178AsnfsTer7) c.3502dup (p.Ile1168AsnfsTer7) c.3427dup (p.Ile1143AsnfsTer7) c.3325dup (p.Ile1109AsnfsTer7) c.2956dup (p.Ile986AsnfsTer7) | ClinVar dbSNP |
| 5 | g.112839399del | CA445963706 | APC | c.3470del (n.3470del) c.3859del (p.Ile1287TyrfsTer19) c.*3811del (n.*3811del) c.3751del (p.Ile1251TyrfsTer19) c.3805del (p.Ile1269TyrfsTer19) c.2158del c.*3127del (n.*3127del) c.230+10427del c.3835del (p.Ile1279TyrfsTer19) c.3730del (p.Ile1244TyrfsTer19) c.3721del (p.Ile1241TyrfsTer19) c.3682del (p.Ile1228TyrfsTer19) c.3628del (p.Ile1210TyrfsTer19) c.3532del (p.Ile1178TyrfsTer19) c.3502del (p.Ile1168TyrfsTer19) c.3427del (p.Ile1143TyrfsTer19) c.3325del (p.Ile1109TyrfsTer19) c.2956del (p.Ile986TyrfsTer19) | COSMIC |
| 5 | g.112839398_112839400delinsG | CA2582341536 | APC | c.3469_3471delinsG (n.3469_3471delinsG) c.3858_3860delinsG (p.Ile1287MetfsTer6) c.*3810_*3812delinsG (n.*3810_*3812delinsG) c.3750_3752delinsG (p.Ile1251MetfsTer6) c.3804_3806delinsG (p.Ile1269MetfsTer6) c.2157_2159delinsG c.*3126_*3128delinsG (n.*3126_*3128delinsG) c.230+10426_230+10428delinsG c.3834_3836delinsG (p.Ile1279MetfsTer6) c.3729_3731delinsG (p.Ile1244MetfsTer6) c.3720_3722delinsG (p.Ile1241MetfsTer6) c.3681_3683delinsG (p.Ile1228MetfsTer6) c.3627_3629delinsG (p.Ile1210MetfsTer6) c.3531_3533delinsG (p.Ile1178MetfsTer6) c.3501_3503delinsG (p.Ile1168MetfsTer6) c.3426_3428delinsG (p.Ile1143MetfsTer6) c.3324_3326delinsG (p.Ile1109MetfsTer6) c.2955_2957delinsG (p.Ile986MetfsTer6) | ClinVar |
| 5 | g.112839398_112839400delinsAAT | CA1573490599 | APC | c.3469_3471delinsAAT (n.3469_3471delinsAAT) c.3858_3860delinsAAT (p.Pro1286=) c.*3810_*3812delinsAAT (n.*3810_*3812delinsAAT) c.3750_3752delinsAAT (p.Pro1250=) c.3804_3806delinsAAT (p.Pro1268=) c.2157_2159delinsAAT c.*3126_*3128delinsAAT (n.*3126_*3128delinsAAT) c.230+10426_230+10428delinsAAT c.3834_3836delinsAAT (p.Pro1278=) c.3729_3731delinsAAT (p.Pro1243=) c.3720_3722delinsAAT (p.Pro1240=) c.3681_3683delinsAAT (p.Pro1227=) c.3627_3629delinsAAT (p.Pro1209=) c.3531_3533delinsAAT (p.Pro1177=) c.3501_3503delinsAAT (p.Pro1167=) c.3426_3428delinsAAT (p.Pro1142=) c.3324_3326delinsAAT (p.Pro1108=) c.2955_2957delinsAAT (p.Pro985=) | |
| 5 | g.112839398_112839402del | CA2695204971 | APC | c.3469_3473del (n.3469_3473del) c.3858_3862del (p.Ile1287PhefsTer5) c.*3810_*3814del (n.*3810_*3814del) c.3750_3754del (p.Ile1251PhefsTer5) c.3804_3808del (p.Ile1269PhefsTer5) c.2157_2161del c.*3126_*3130del (n.*3126_*3130del) c.230+10426_230+10430del c.3834_3838del (p.Ile1279PhefsTer5) c.3729_3733del (p.Ile1244PhefsTer5) c.3720_3724del (p.Ile1241PhefsTer5) c.3681_3685del (p.Ile1228PhefsTer5) c.3627_3631del (p.Ile1210PhefsTer5) c.3531_3535del (p.Ile1178PhefsTer5) c.3501_3505del (p.Ile1168PhefsTer5) c.3426_3430del (p.Ile1143PhefsTer5) c.3324_3328del (p.Ile1109PhefsTer5) c.2955_2959del (p.Ile986PhefsTer5) | |
| 5 | g.112839399A>C | CA16029679 | APC | c.3470A>C (n.3470A>C) c.3859A>C (p.Ile1287Leu) c.*3811A>C (n.*3811A>C) c.3751A>C (p.Ile1251Leu) c.3805A>C (p.Ile1269Leu) c.2158A>C c.*3127A>C (n.*3127A>C) c.230+10427A>C c.3835A>C (p.Ile1279Leu) c.3730A>C (p.Ile1244Leu) c.3721A>C (p.Ile1241Leu) c.3682A>C (p.Ile1228Leu) c.3628A>C (p.Ile1210Leu) c.3532A>C (p.Ile1178Leu) c.3502A>C (p.Ile1168Leu) c.3427A>C (p.Ile1143Leu) c.3325A>C (p.Ile1109Leu) c.2956A>C (p.Ile986Leu) | |
| 5 | g.112839399A>G | CA16029680 | APC | c.3470A>G (n.3470A>G) c.3859A>G (p.Ile1287Val) c.*3811A>G (n.*3811A>G) c.3751A>G (p.Ile1251Val) c.3805A>G (p.Ile1269Val) c.2158A>G c.*3127A>G (n.*3127A>G) c.230+10427A>G c.3835A>G (p.Ile1279Val) c.3730A>G (p.Ile1244Val) c.3721A>G (p.Ile1241Val) c.3682A>G (p.Ile1228Val) c.3628A>G (p.Ile1210Val) c.3532A>G (p.Ile1178Val) c.3502A>G (p.Ile1168Val) c.3427A>G (p.Ile1143Val) c.3325A>G (p.Ile1109Val) c.2956A>G (p.Ile986Val) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112839399A>T | CA16029681 | APC | c.3470A>T (n.3470A>T) c.3859A>T (p.Ile1287Leu) c.*3811A>T (n.*3811A>T) c.3751A>T (p.Ile1251Leu) c.3805A>T (p.Ile1269Leu) c.2158A>T c.*3127A>T (n.*3127A>T) c.230+10427A>T c.3835A>T (p.Ile1279Leu) c.3730A>T (p.Ile1244Leu) c.3721A>T (p.Ile1241Leu) c.3682A>T (p.Ile1228Leu) c.3628A>T (p.Ile1210Leu) c.3532A>T (p.Ile1178Leu) c.3502A>T (p.Ile1168Leu) c.3427A>T (p.Ile1143Leu) c.3325A>T (p.Ile1109Leu) c.2956A>T (p.Ile986Leu) | dbSNP gnomAD v4 COSMIC |
| 5 | g.112839401_112839402del | CA008682 | APC | c.3472_3473del (n.3472_3473del) c.3861_3862del (p.Ile1287MetfsTer6) c.*3813_*3814del (n.*3813_*3814del) c.3753_3754del (p.Ile1251MetfsTer6) c.3807_3808del (p.Ile1269MetfsTer6) c.2160_2161del c.*3129_*3130del (n.*3129_*3130del) c.230+10429_230+10430del c.3837_3838del (p.Ile1279MetfsTer6) c.3732_3733del (p.Ile1244MetfsTer6) c.3723_3724del (p.Ile1241MetfsTer6) c.3684_3685del (p.Ile1228MetfsTer6) c.3630_3631del (p.Ile1210MetfsTer6) c.3534_3535del (p.Ile1178MetfsTer6) c.3504_3505del (p.Ile1168MetfsTer6) c.3429_3430del (p.Ile1143MetfsTer6) c.3327_3328del (p.Ile1109MetfsTer6) c.2958_2959del (p.Ile986MetfsTer6) | ClinVar dbSNP COSMIC |
| 5 | g.112839400T>A | CA16029682 | APC | c.3471T>A (n.3471T>A) c.3860T>A (p.Ile1287Lys) c.*3812T>A (n.*3812T>A) c.3752T>A (p.Ile1251Lys) c.3806T>A (p.Ile1269Lys) c.2159T>A c.*3128T>A (n.*3128T>A) c.230+10428T>A c.3836T>A (p.Ile1279Lys) c.3731T>A (p.Ile1244Lys) c.3722T>A (p.Ile1241Lys) c.3683T>A (p.Ile1228Lys) c.3629T>A (p.Ile1210Lys) c.3533T>A (p.Ile1178Lys) c.3503T>A (p.Ile1168Lys) c.3428T>A (p.Ile1143Lys) c.3326T>A (p.Ile1109Lys) c.2957T>A (p.Ile986Lys) | dbSNP |
| 5 | g.112839400T>C | CA16029683 | APC | c.3471T>C (n.3471T>C) c.3860T>C (p.Ile1287Thr) c.*3812T>C (n.*3812T>C) c.3752T>C (p.Ile1251Thr) c.3806T>C (p.Ile1269Thr) c.2159T>C c.*3128T>C (n.*3128T>C) c.230+10428T>C c.3836T>C (p.Ile1279Thr) c.3731T>C (p.Ile1244Thr) c.3722T>C (p.Ile1241Thr) c.3683T>C (p.Ile1228Thr) c.3629T>C (p.Ile1210Thr) c.3533T>C (p.Ile1178Thr) c.3503T>C (p.Ile1168Thr) c.3428T>C (p.Ile1143Thr) c.3326T>C (p.Ile1109Thr) c.2957T>C (p.Ile986Thr) | ClinVar dbSNP |
| 5 | g.112839400T>G | CA16029684 | APC | c.3471T>G (n.3471T>G) c.3860T>G (p.Ile1287Arg) c.*3812T>G (n.*3812T>G) c.3752T>G (p.Ile1251Arg) c.3806T>G (p.Ile1269Arg) c.2159T>G c.*3128T>G (n.*3128T>G) c.230+10428T>G c.3836T>G (p.Ile1279Arg) c.3731T>G (p.Ile1244Arg) c.3722T>G (p.Ile1241Arg) c.3683T>G (p.Ile1228Arg) c.3629T>G (p.Ile1210Arg) c.3533T>G (p.Ile1178Arg) c.3503T>G (p.Ile1168Arg) c.3428T>G (p.Ile1143Arg) c.3326T>G (p.Ile1109Arg) c.2957T>G (p.Ile986Arg) | ClinVar dbSNP |
| 5 | g.112839400T= | CA1573490607 | APC | c.3471T= (n.3471T=) c.3860T= (p.Ile1287=) c.*3812T= (n.*3812T=) c.3752T= (p.Ile1251=) c.3806T= (p.Ile1269=) c.2159T= c.*3128T= (n.*3128T=) c.230+10428T= c.3836T= (p.Ile1279=) c.3731T= (p.Ile1244=) c.3722T= (p.Ile1241=) c.3683T= (p.Ile1228=) c.3629T= (p.Ile1210=) c.3533T= (p.Ile1178=) c.3503T= (p.Ile1168=) c.3428T= (p.Ile1143=) c.3326T= (p.Ile1109=) c.2957T= (p.Ile986=) | |
| 5 | g.112839400dup | CA658760566 | APC | c.3471dup (n.3471dup) c.3860dup (p.Cys1288MetfsTer6) c.*3812dup (n.*3812dup) c.3752dup (p.Cys1252MetfsTer6) c.3806dup (p.Cys1270MetfsTer6) c.2159dup c.*3128dup (n.*3128dup) c.230+10428dup c.3836dup (p.Cys1280MetfsTer6) c.3731dup (p.Cys1245MetfsTer6) c.3722dup (p.Cys1242MetfsTer6) c.3683dup (p.Cys1229MetfsTer6) c.3629dup (p.Cys1211MetfsTer6) c.3533dup (p.Cys1179MetfsTer6) c.3503dup (p.Cys1169MetfsTer6) c.3428dup (p.Cys1144MetfsTer6) c.3326dup (p.Cys1110MetfsTer6) c.2957dup (p.Cys987MetfsTer6) | |
| 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.112839401A= | CA1573490614 | APC | c.3472A= (n.3472A=) c.3861A= (p.Ile1287=) c.*3813A= (n.*3813A=) c.3753A= (p.Ile1251=) c.3807A= (p.Ile1269=) c.2160A= c.*3129A= (n.*3129A=) c.230+10429A= c.3837A= (p.Ile1279=) c.3732A= (p.Ile1244=) c.3723A= (p.Ile1241=) c.3684A= (p.Ile1228=) c.3630A= (p.Ile1210=) c.3534A= (p.Ile1178=) c.3504A= (p.Ile1168=) c.3429A= (p.Ile1143=) c.3327A= (p.Ile1109=) c.2958A= (p.Ile986=) | |
| 5 | g.112839401A>C | CA445963708 | APC | c.3472A>C (n.3472A>C) c.3861A>C (p.Ile1287=) c.*3813A>C (n.*3813A>C) c.3753A>C (p.Ile1251=) c.3807A>C (p.Ile1269=) c.2160A>C c.*3129A>C (n.*3129A>C) c.230+10429A>C c.3837A>C (p.Ile1279=) c.3732A>C (p.Ile1244=) c.3723A>C (p.Ile1241=) c.3684A>C (p.Ile1228=) c.3630A>C (p.Ile1210=) c.3534A>C (p.Ile1178=) c.3504A>C (p.Ile1168=) c.3429A>C (p.Ile1143=) c.3327A>C (p.Ile1109=) c.2958A>C (p.Ile986=) | |
| 5 | g.112839401A>G | CA10578358 | APC | c.3472A>G (n.3472A>G) c.3861A>G (p.Ile1287Met) c.*3813A>G (n.*3813A>G) c.3753A>G (p.Ile1251Met) c.3807A>G (p.Ile1269Met) c.2160A>G c.*3129A>G (n.*3129A>G) c.230+10429A>G c.3837A>G (p.Ile1279Met) c.3732A>G (p.Ile1244Met) c.3723A>G (p.Ile1241Met) c.3684A>G (p.Ile1228Met) c.3630A>G (p.Ile1210Met) c.3534A>G (p.Ile1178Met) c.3504A>G (p.Ile1168Met) c.3429A>G (p.Ile1143Met) c.3327A>G (p.Ile1109Met) c.2958A>G (p.Ile986Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.112839401A>T | CA445963709 | APC | c.3472A>T (n.3472A>T) c.3861A>T (p.Ile1287=) c.*3813A>T (n.*3813A>T) c.3753A>T (p.Ile1251=) c.3807A>T (p.Ile1269=) c.2160A>T c.*3129A>T (n.*3129A>T) c.230+10429A>T c.3837A>T (p.Ile1279=) c.3732A>T (p.Ile1244=) c.3723A>T (p.Ile1241=) c.3684A>T (p.Ile1228=) c.3630A>T (p.Ile1210=) c.3534A>T (p.Ile1178=) c.3504A>T (p.Ile1168=) c.3429A>T (p.Ile1143=) c.3327A>T (p.Ile1109=) c.2958A>T (p.Ile986=) | dbSNP |
| 5 | g.112839402T>A | CA16029685 | APC | c.3473T>A (n.3473T>A) c.3862T>A (p.Cys1288Ser) c.*3814T>A (n.*3814T>A) c.3754T>A (p.Cys1252Ser) c.3808T>A (p.Cys1270Ser) c.2161T>A c.*3130T>A (n.*3130T>A) c.230+10430T>A c.3838T>A (p.Cys1280Ser) c.3733T>A (p.Cys1245Ser) c.3724T>A (p.Cys1242Ser) c.3685T>A (p.Cys1229Ser) c.3631T>A (p.Cys1211Ser) c.3535T>A (p.Cys1179Ser) c.3505T>A (p.Cys1169Ser) c.3430T>A (p.Cys1144Ser) c.3328T>A (p.Cys1110Ser) c.2959T>A (p.Cys987Ser) | |
| 5 | g.112839402T>C | CA16029686 | APC | c.3473T>C (n.3473T>C) c.3862T>C (p.Cys1288Arg) c.*3814T>C (n.*3814T>C) c.3754T>C (p.Cys1252Arg) c.3808T>C (p.Cys1270Arg) c.2161T>C c.*3130T>C (n.*3130T>C) c.230+10430T>C c.3838T>C (p.Cys1280Arg) c.3733T>C (p.Cys1245Arg) c.3724T>C (p.Cys1242Arg) c.3685T>C (p.Cys1229Arg) c.3631T>C (p.Cys1211Arg) c.3535T>C (p.Cys1179Arg) c.3505T>C (p.Cys1169Arg) c.3430T>C (p.Cys1144Arg) c.3328T>C (p.Cys1110Arg) c.2959T>C (p.Cys987Arg) | dbSNP gnomAD v4 |
| 5 | g.112839402T>G | CA16029687 | APC | c.3473T>G (n.3473T>G) c.3862T>G (p.Cys1288Gly) c.*3814T>G (n.*3814T>G) c.3754T>G (p.Cys1252Gly) c.3808T>G (p.Cys1270Gly) c.2161T>G c.*3130T>G (n.*3130T>G) c.230+10430T>G c.3838T>G (p.Cys1280Gly) c.3733T>G (p.Cys1245Gly) c.3724T>G (p.Cys1242Gly) c.3685T>G (p.Cys1229Gly) c.3631T>G (p.Cys1211Gly) c.3535T>G (p.Cys1179Gly) c.3505T>G (p.Cys1169Gly) c.3430T>G (p.Cys1144Gly) c.3328T>G (p.Cys1110Gly) c.2959T>G (p.Cys987Gly) | |
| 5 | g.112839403G>A | CA036743 | APC | c.3474G>A (n.3474G>A) c.3863G>A (p.Cys1288Tyr) c.*3815G>A (n.*3815G>A) c.3755G>A (p.Cys1252Tyr) c.3809G>A (p.Cys1270Tyr) c.2162G>A c.*3131G>A (n.*3131G>A) c.230+10431G>A c.3839G>A (p.Cys1280Tyr) c.3734G>A (p.Cys1245Tyr) c.3725G>A (p.Cys1242Tyr) c.3686G>A (p.Cys1229Tyr) c.3632G>A (p.Cys1211Tyr) c.3536G>A (p.Cys1179Tyr) c.3506G>A (p.Cys1169Tyr) c.3431G>A (p.Cys1144Tyr) c.3329G>A (p.Cys1110Tyr) c.2960G>A (p.Cys987Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.112839403G>C | CA16029688 | APC | c.3474G>C (n.3474G>C) c.3863G>C (p.Cys1288Ser) c.*3815G>C (n.*3815G>C) c.3755G>C (p.Cys1252Ser) c.3809G>C (p.Cys1270Ser) c.2162G>C c.*3131G>C (n.*3131G>C) c.230+10431G>C c.3839G>C (p.Cys1280Ser) c.3734G>C (p.Cys1245Ser) c.3725G>C (p.Cys1242Ser) c.3686G>C (p.Cys1229Ser) c.3632G>C (p.Cys1211Ser) c.3536G>C (p.Cys1179Ser) c.3506G>C (p.Cys1169Ser) c.3431G>C (p.Cys1144Ser) c.3329G>C (p.Cys1110Ser) c.2960G>C (p.Cys987Ser) | |
| 5 | g.112839403G= | CA1573490623 | APC | c.3474G= (n.3474G=) c.3863G= (p.Cys1288=) c.*3815G= (n.*3815G=) c.3755G= (p.Cys1252=) c.3809G= (p.Cys1270=) c.2162G= c.*3131G= (n.*3131G=) c.230+10431G= c.3839G= (p.Cys1280=) c.3734G= (p.Cys1245=) c.3725G= (p.Cys1242=) c.3686G= (p.Cys1229=) c.3632G= (p.Cys1211=) c.3536G= (p.Cys1179=) c.3506G= (p.Cys1169=) c.3431G= (p.Cys1144=) c.3329G= (p.Cys1110=) c.2960G= (p.Cys987=) | |
| 5 | g.112839403G>T | CA16029689 | APC | c.3474G>T (n.3474G>T) c.3863G>T (p.Cys1288Phe) c.*3815G>T (n.*3815G>T) c.3755G>T (p.Cys1252Phe) c.3809G>T (p.Cys1270Phe) c.2162G>T c.*3131G>T (n.*3131G>T) c.230+10431G>T c.3839G>T (p.Cys1280Phe) c.3734G>T (p.Cys1245Phe) c.3725G>T (p.Cys1242Phe) c.3686G>T (p.Cys1229Phe) c.3632G>T (p.Cys1211Phe) c.3536G>T (p.Cys1179Phe) c.3506G>T (p.Cys1169Phe) c.3431G>T (p.Cys1144Phe) c.3329G>T (p.Cys1110Phe) c.2960G>T (p.Cys987Phe) | ClinVar dbSNP |
| 5 | g.112839403_112839404delinsGT | CA1573490621 | APC | c.3474_3475delinsGT (n.3474_3475delinsGT) c.3863_3864delinsGT (p.Cys1288=) c.*3815_*3816delinsGT (n.*3815_*3816delinsGT) c.3755_3756delinsGT (p.Cys1252=) c.3809_3810delinsGT (p.Cys1270=) c.2162_2163delinsGT c.*3131_*3132delinsGT (n.*3131_*3132delinsGT) c.230+10431_230+10432delinsGT c.3839_3840delinsGT (p.Cys1280=) c.3734_3735delinsGT (p.Cys1245=) c.3725_3726delinsGT (p.Cys1242=) c.3686_3687delinsGT (p.Cys1229=) c.3632_3633delinsGT (p.Cys1211=) c.3536_3537delinsGT (p.Cys1179=) c.3506_3507delinsGT (p.Cys1169=) c.3431_3432delinsGT (p.Cys1144=) c.3329_3330delinsGT (p.Cys1110=) c.2960_2961delinsGT (p.Cys987=) | |
| 5 | g.112839403_112839404insC | CA2695204974 | APC | c.3474_3475insC (n.3474_3475insC) c.3863_3864insC (p.Ser1290PhefsTer4) c.*3815_*3816insC (n.*3815_*3816insC) c.3755_3756insC (p.Ser1254PhefsTer4) c.3809_3810insC (p.Ser1272PhefsTer4) c.2162_2163insC c.*3131_*3132insC (n.*3131_*3132insC) c.230+10431_230+10432insC c.3839_3840insC (p.Ser1282PhefsTer4) c.3734_3735insC (p.Ser1247PhefsTer4) c.3725_3726insC (p.Ser1244PhefsTer4) c.3686_3687insC (p.Ser1231PhefsTer4) c.3632_3633insC (p.Ser1213PhefsTer4) c.3536_3537insC (p.Ser1181PhefsTer4) c.3506_3507insC (p.Ser1171PhefsTer4) c.3431_3432insC (p.Ser1146PhefsTer4) c.3329_3330insC (p.Ser1112PhefsTer4) c.2960_2961insC (p.Ser989PhefsTer4) | |
| 5 | g.112839404T>A | CA279753 | APC | c.3475T>A (n.3475T>A) c.3864T>A (p.Cys1288Ter) c.*3816T>A (n.*3816T>A) c.3756T>A (p.Cys1252Ter) c.3810T>A (p.Cys1270Ter) c.2163T>A c.*3132T>A (n.*3132T>A) c.230+10432T>A c.3840T>A (p.Cys1280Ter) c.3735T>A (p.Cys1245Ter) c.3726T>A (p.Cys1242Ter) c.3687T>A (p.Cys1229Ter) c.3633T>A (p.Cys1211Ter) c.3537T>A (p.Cys1179Ter) c.3507T>A (p.Cys1169Ter) c.3432T>A (p.Cys1144Ter) c.3330T>A (p.Cys1110Ter) c.2961T>A (p.Cys987Ter) | ClinVar dbSNP COSMIC |
| 5 | g.112839404T>C | CA445963710 | APC | c.3475T>C (n.3475T>C) c.3864T>C (p.Cys1288=) c.*3816T>C (n.*3816T>C) c.3756T>C (p.Cys1252=) c.3810T>C (p.Cys1270=) c.2163T>C c.*3132T>C (n.*3132T>C) c.230+10432T>C c.3840T>C (p.Cys1280=) c.3735T>C (p.Cys1245=) c.3726T>C (p.Cys1242=) c.3687T>C (p.Cys1229=) c.3633T>C (p.Cys1211=) c.3537T>C (p.Cys1179=) c.3507T>C (p.Cys1169=) c.3432T>C (p.Cys1144=) c.3330T>C (p.Cys1110=) c.2961T>C (p.Cys987=) | gnomAD v4 |
| 5 | g.112839404T>G | CA16029690 | APC | c.3475T>G (n.3475T>G) c.3864T>G (p.Cys1288Trp) c.*3816T>G (n.*3816T>G) c.3756T>G (p.Cys1252Trp) c.3810T>G (p.Cys1270Trp) c.2163T>G c.*3132T>G (n.*3132T>G) c.230+10432T>G c.3840T>G (p.Cys1280Trp) c.3735T>G (p.Cys1245Trp) c.3726T>G (p.Cys1242Trp) c.3687T>G (p.Cys1229Trp) c.3633T>G (p.Cys1211Trp) c.3537T>G (p.Cys1179Trp) c.3507T>G (p.Cys1169Trp) c.3432T>G (p.Cys1144Trp) c.3330T>G (p.Cys1110Trp) c.2961T>G (p.Cys987Trp) | dbSNP gnomAD v4 |
| 5 | g.112839404T= | CA1573490647 | APC | c.3475T= (n.3475T=) c.3864T= (p.Cys1288=) c.*3816T= (n.*3816T=) c.3756T= (p.Cys1252=) c.3810T= (p.Cys1270=) c.2163T= c.*3132T= (n.*3132T=) c.230+10432T= c.3840T= (p.Cys1280=) c.3735T= (p.Cys1245=) c.3726T= (p.Cys1242=) c.3687T= (p.Cys1229=) c.3633T= (p.Cys1211=) c.3537T= (p.Cys1179=) c.3507T= (p.Cys1169=) c.3432T= (p.Cys1144=) c.3330T= (p.Cys1110=) c.2961T= (p.Cys987=) | |
| 5 | g.112839408dup | CA645543603 | APC | c.3479dup (n.3479dup) c.3868dup (p.Ser1290PhefsTer4) c.*3820dup (n.*3820dup) c.3760dup (p.Ser1254PhefsTer4) c.3814dup (p.Ser1272PhefsTer4) c.2167dup c.*3136dup (n.*3136dup) c.230+10436dup c.3844dup (p.Ser1282PhefsTer4) c.3739dup (p.Ser1247PhefsTer4) c.3730dup (p.Ser1244PhefsTer4) c.3691dup (p.Ser1231PhefsTer4) c.3637dup (p.Ser1213PhefsTer4) c.3541dup (p.Ser1181PhefsTer4) c.3511dup (p.Ser1171PhefsTer4) c.3436dup (p.Ser1146PhefsTer4) c.3334dup (p.Ser1112PhefsTer4) c.2965dup (p.Ser989PhefsTer4) | COSMIC |
| 5 | g.112839408del | CA008688 | APC | c.3479del (n.3479del) c.3868del (p.Ser1290GlnfsTer16) c.*3820del (n.*3820del) c.3760del (p.Ser1254GlnfsTer16) c.3814del (p.Ser1272GlnfsTer16) c.2167del c.*3136del (n.*3136del) c.230+10436del c.3844del (p.Ser1282GlnfsTer16) c.3739del (p.Ser1247GlnfsTer16) c.3730del (p.Ser1244GlnfsTer16) c.3691del (p.Ser1231GlnfsTer16) c.3637del (p.Ser1213GlnfsTer16) c.3541del (p.Ser1181GlnfsTer16) c.3511del (p.Ser1171GlnfsTer16) c.3436del (p.Ser1146GlnfsTer16) c.3334del (p.Ser1112GlnfsTer16) c.2965del (p.Ser989GlnfsTer16) | ClinVar dbSNP COSMIC |
| 5 | g.112839404_112839410delinsCTTTTCC | CA2695204973 | APC | c.3475_3481delinsCTTTTCC (n.3475_3481delinsCTTTTCC) c.3864_3870delinsCTTTTCC (p.Cys1288=) c.*3816_*3822delinsCTTTTCC (n.*3816_*3822delinsCTTTTCC) c.3756_3762delinsCTTTTCC (p.Cys1252=) c.3810_3816delinsCTTTTCC (p.Cys1270=) c.2163_2169delinsCTTTTCC c.*3132_*3138delinsCTTTTCC (n.*3132_*3138delinsCTTTTCC) c.230+10432_230+10438delinsCTTTTCC c.3840_3846delinsCTTTTCC (p.Cys1280=) c.3735_3741delinsCTTTTCC (p.Cys1245=) c.3726_3732delinsCTTTTCC (p.Cys1242=) c.3687_3693delinsCTTTTCC (p.Cys1229=) c.3633_3639delinsCTTTTCC (p.Cys1211=) c.3537_3543delinsCTTTTCC (p.Cys1179=) c.3507_3513delinsCTTTTCC (p.Cys1169=) c.3432_3438delinsCTTTTCC (p.Cys1144=) c.3330_3336delinsCTTTTCC (p.Cys1110=) c.2961_2967delinsCTTTTCC (p.Cys987=) | |
| 5 | g.112839404_112839405insC | CA658760570 | APC | c.3475_3476insC (n.3475_3476insC) c.3864_3865insC (p.Phe1289LeufsTer5) c.*3816_*3817insC (n.*3816_*3817insC) c.3756_3757insC (p.Phe1253LeufsTer5) c.3810_3811insC (p.Phe1271LeufsTer5) c.2163_2164insC c.*3132_*3133insC (n.*3132_*3133insC) c.230+10432_230+10433insC c.3840_3841insC (p.Phe1281LeufsTer5) c.3735_3736insC (p.Phe1246LeufsTer5) c.3726_3727insC (p.Phe1243LeufsTer5) c.3687_3688insC (p.Phe1230LeufsTer5) c.3633_3634insC (p.Phe1212LeufsTer5) c.3537_3538insC (p.Phe1180LeufsTer5) c.3507_3508insC (p.Phe1170LeufsTer5) c.3432_3433insC (p.Phe1145LeufsTer5) c.3330_3331insC (p.Phe1111LeufsTer5) c.2961_2962insC (p.Phe988LeufsTer5) | |
| 5 | g.112839405T>A | CA16029691 | APC | c.3476T>A (n.3476T>A) c.3865T>A (p.Phe1289Ile) c.*3817T>A (n.*3817T>A) c.3757T>A (p.Phe1253Ile) c.3811T>A (p.Phe1271Ile) c.2164T>A c.*3133T>A (n.*3133T>A) c.230+10433T>A c.3841T>A (p.Phe1281Ile) c.3736T>A (p.Phe1246Ile) c.3727T>A (p.Phe1243Ile) c.3688T>A (p.Phe1230Ile) c.3634T>A (p.Phe1212Ile) c.3538T>A (p.Phe1180Ile) c.3508T>A (p.Phe1170Ile) c.3433T>A (p.Phe1145Ile) c.3331T>A (p.Phe1111Ile) c.2962T>A (p.Phe988Ile) | dbSNP COSMIC |
| 5 | g.112839405T>C | CA16029692 | APC | c.3476T>C (n.3476T>C) c.3865T>C (p.Phe1289Leu) c.*3817T>C (n.*3817T>C) c.3757T>C (p.Phe1253Leu) c.3811T>C (p.Phe1271Leu) c.2164T>C c.*3133T>C (n.*3133T>C) c.230+10433T>C c.3841T>C (p.Phe1281Leu) c.3736T>C (p.Phe1246Leu) c.3727T>C (p.Phe1243Leu) c.3688T>C (p.Phe1230Leu) c.3634T>C (p.Phe1212Leu) c.3538T>C (p.Phe1180Leu) c.3508T>C (p.Phe1170Leu) c.3433T>C (p.Phe1145Leu) c.3331T>C (p.Phe1111Leu) c.2962T>C (p.Phe988Leu) | ClinVar dbSNP |