| 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.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.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.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.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.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.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) | |
| 5 | g.112839424T>A | CA16029734 | APC | c.3495T>A (n.3495T>A) c.3884T>A (p.Leu1295Ter) c.*3836T>A (n.*3836T>A) c.3776T>A (p.Leu1259Ter) c.3830T>A (p.Leu1277Ter) c.2183T>A c.*3152T>A (n.*3152T>A) c.230+10452T>A c.3860T>A (p.Leu1287Ter) c.3755T>A (p.Leu1252Ter) c.3746T>A (p.Leu1249Ter) c.3707T>A (p.Leu1236Ter) c.3653T>A (p.Leu1218Ter) c.3557T>A (p.Leu1186Ter) c.3527T>A (p.Leu1176Ter) c.3452T>A (p.Leu1151Ter) c.3350T>A (p.Leu1117Ter) c.2981T>A (p.Leu994Ter) | dbSNP COSMIC |
| 5 | g.112839424T>C | CA16029735 | APC | c.3495T>C (n.3495T>C) c.3884T>C (p.Leu1295Ser) c.*3836T>C (n.*3836T>C) c.3776T>C (p.Leu1259Ser) c.3830T>C (p.Leu1277Ser) c.2183T>C c.*3152T>C (n.*3152T>C) c.230+10452T>C c.3860T>C (p.Leu1287Ser) c.3755T>C (p.Leu1252Ser) c.3746T>C (p.Leu1249Ser) c.3707T>C (p.Leu1236Ser) c.3653T>C (p.Leu1218Ser) c.3557T>C (p.Leu1186Ser) c.3527T>C (p.Leu1176Ser) c.3452T>C (p.Leu1151Ser) c.3350T>C (p.Leu1117Ser) c.2981T>C (p.Leu994Ser) | |
| 5 | g.112839424T>G | CA008704 | APC | c.3495T>G (n.3495T>G) c.3884T>G (p.Leu1295Ter) c.*3836T>G (n.*3836T>G) c.3776T>G (p.Leu1259Ter) c.3830T>G (p.Leu1277Ter) c.2183T>G c.*3152T>G (n.*3152T>G) c.230+10452T>G c.3860T>G (p.Leu1287Ter) c.3755T>G (p.Leu1252Ter) c.3746T>G (p.Leu1249Ter) c.3707T>G (p.Leu1236Ter) c.3653T>G (p.Leu1218Ter) c.3557T>G (p.Leu1186Ter) c.3527T>G (p.Leu1176Ter) c.3452T>G (p.Leu1151Ter) c.3350T>G (p.Leu1117Ter) c.2981T>G (p.Leu994Ter) | ClinVar dbSNP |
| 5 | g.112839424T= | CA1573490744 | APC | c.3495T= (n.3495T=) c.3884T= (p.Leu1295=) c.*3836T= (n.*3836T=) c.3776T= (p.Leu1259=) c.3830T= (p.Leu1277=) c.2183T= c.*3152T= (n.*3152T=) c.230+10452T= c.3860T= (p.Leu1287=) c.3755T= (p.Leu1252=) c.3746T= (p.Leu1249=) c.3707T= (p.Leu1236=) c.3653T= (p.Leu1218=) c.3557T= (p.Leu1186=) c.3527T= (p.Leu1176=) c.3452T= (p.Leu1151=) c.3350T= (p.Leu1117=) c.2981T= (p.Leu994=) | |
| 5 | g.112839424_112839427delinsTATC | CA1573490741 | APC | c.3495_3498delinsTATC (n.3495_3498delinsTATC) c.3884_3887delinsTATC (p.Leu1295=) c.*3836_*3839delinsTATC (n.*3836_*3839delinsTATC) c.3776_3779delinsTATC (p.Leu1259=) c.3830_3833delinsTATC (p.Leu1277=) c.2183_2186delinsTATC c.*3152_*3155delinsTATC (n.*3152_*3155delinsTATC) c.230+10452_230+10455delinsTATC c.3860_3863delinsTATC (p.Leu1287=) c.3755_3758delinsTATC (p.Leu1252=) c.3746_3749delinsTATC (p.Leu1249=) c.3707_3710delinsTATC (p.Leu1236=) c.3653_3656delinsTATC (p.Leu1218=) c.3557_3560delinsTATC (p.Leu1186=) c.3527_3530delinsTATC (p.Leu1176=) c.3452_3455delinsTATC (p.Leu1151=) c.3350_3353delinsTATC (p.Leu1117=) c.2981_2984delinsTATC (p.Leu994=) | |
| 5 | g.112839425A= | CA1573490751 | APC | c.3496A= (n.3496A=) c.3885A= (p.Leu1295=) c.*3837A= (n.*3837A=) c.3777A= (p.Leu1259=) c.3831A= (p.Leu1277=) c.2184A= c.*3153A= (n.*3153A=) c.230+10453A= c.3861A= (p.Leu1287=) c.3756A= (p.Leu1252=) c.3747A= (p.Leu1249=) c.3708A= (p.Leu1236=) c.3654A= (p.Leu1218=) c.3558A= (p.Leu1186=) c.3528A= (p.Leu1176=) c.3453A= (p.Leu1151=) c.3351A= (p.Leu1117=) c.2982A= (p.Leu994=) | |
| 5 | g.112839425A>C | CA16029736 | APC | c.3496A>C (n.3496A>C) c.3885A>C (p.Leu1295Phe) c.*3837A>C (n.*3837A>C) c.3777A>C (p.Leu1259Phe) c.3831A>C (p.Leu1277Phe) c.2184A>C c.*3153A>C (n.*3153A>C) c.230+10453A>C c.3861A>C (p.Leu1287Phe) c.3756A>C (p.Leu1252Phe) c.3747A>C (p.Leu1249Phe) c.3708A>C (p.Leu1236Phe) c.3654A>C (p.Leu1218Phe) c.3558A>C (p.Leu1186Phe) c.3528A>C (p.Leu1176Phe) c.3453A>C (p.Leu1151Phe) c.3351A>C (p.Leu1117Phe) c.2982A>C (p.Leu994Phe) | |
| 5 | g.112839425A>G | CA445963725 | APC | c.3496A>G (n.3496A>G) c.3885A>G (p.Leu1295=) c.*3837A>G (n.*3837A>G) c.3777A>G (p.Leu1259=) c.3831A>G (p.Leu1277=) c.2184A>G c.*3153A>G (n.*3153A>G) c.230+10453A>G c.3861A>G (p.Leu1287=) c.3756A>G (p.Leu1252=) c.3747A>G (p.Leu1249=) c.3708A>G (p.Leu1236=) c.3654A>G (p.Leu1218=) c.3558A>G (p.Leu1186=) c.3528A>G (p.Leu1176=) c.3453A>G (p.Leu1151=) c.3351A>G (p.Leu1117=) c.2982A>G (p.Leu994=) | ClinVar dbSNP |
| 5 | g.112839425A>T | CA16029737 | APC | c.3496A>T (n.3496A>T) c.3885A>T (p.Leu1295Phe) c.*3837A>T (n.*3837A>T) c.3777A>T (p.Leu1259Phe) c.3831A>T (p.Leu1277Phe) c.2184A>T c.*3153A>T (n.*3153A>T) c.230+10453A>T c.3861A>T (p.Leu1287Phe) c.3756A>T (p.Leu1252Phe) c.3747A>T (p.Leu1249Phe) c.3708A>T (p.Leu1236Phe) c.3654A>T (p.Leu1218Phe) c.3558A>T (p.Leu1186Phe) c.3528A>T (p.Leu1176Phe) c.3453A>T (p.Leu1151Phe) c.3351A>T (p.Leu1117Phe) c.2982A>T (p.Leu994Phe) | |
| 5 | g.112839428_112839430del | CA562217605 | APC | c.3499_3501del (n.3499_3501del) c.3888_3890del (p.Ser1297del) c.*3840_*3842del (n.*3840_*3842del) c.3780_3782del (p.Ser1261del) c.3834_3836del (p.Ser1279del) c.2187_2189del c.*3156_*3158del (n.*3156_*3158del) c.230+10456_230+10458del c.3864_3866del (p.Ser1289del) c.3759_3761del (p.Ser1254del) c.3750_3752del (p.Ser1251del) c.3711_3713del (p.Ser1238del) c.3657_3659del (p.Ser1220del) c.3561_3563del (p.Ser1188del) c.3531_3533del (p.Ser1178del) c.3456_3458del (p.Ser1153del) c.3354_3356del (p.Ser1119del) c.2985_2987del (p.Ser996del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112839426T>A | CA16029738 | APC | c.3497T>A (n.3497T>A) c.3886T>A (p.Ser1296Thr) c.*3838T>A (n.*3838T>A) c.3778T>A (p.Ser1260Thr) c.3832T>A (p.Ser1278Thr) c.2185T>A c.*3154T>A (n.*3154T>A) c.230+10454T>A c.3862T>A (p.Ser1288Thr) c.3757T>A (p.Ser1253Thr) c.3748T>A (p.Ser1250Thr) c.3709T>A (p.Ser1237Thr) c.3655T>A (p.Ser1219Thr) c.3559T>A (p.Ser1187Thr) c.3529T>A (p.Ser1177Thr) c.3454T>A (p.Ser1152Thr) c.3352T>A (p.Ser1118Thr) c.2983T>A (p.Ser995Thr) | dbSNP |
| 5 | g.112839426T>C | CA16029739 | APC | c.3497T>C (n.3497T>C) c.3886T>C (p.Ser1296Pro) c.*3838T>C (n.*3838T>C) c.3778T>C (p.Ser1260Pro) c.3832T>C (p.Ser1278Pro) c.2185T>C c.*3154T>C (n.*3154T>C) c.230+10454T>C c.3862T>C (p.Ser1288Pro) c.3757T>C (p.Ser1253Pro) c.3748T>C (p.Ser1250Pro) c.3709T>C (p.Ser1237Pro) c.3655T>C (p.Ser1219Pro) c.3559T>C (p.Ser1187Pro) c.3529T>C (p.Ser1177Pro) c.3454T>C (p.Ser1152Pro) c.3352T>C (p.Ser1118Pro) c.2983T>C (p.Ser995Pro) | dbSNP COSMIC |
| 5 | g.112839426T>G | CA16029740 | APC | c.3497T>G (n.3497T>G) c.3886T>G (p.Ser1296Ala) c.*3838T>G (n.*3838T>G) c.3778T>G (p.Ser1260Ala) c.3832T>G (p.Ser1278Ala) c.2185T>G c.*3154T>G (n.*3154T>G) c.230+10454T>G c.3862T>G (p.Ser1288Ala) c.3757T>G (p.Ser1253Ala) c.3748T>G (p.Ser1250Ala) c.3709T>G (p.Ser1237Ala) c.3655T>G (p.Ser1219Ala) c.3559T>G (p.Ser1187Ala) c.3529T>G (p.Ser1177Ala) c.3454T>G (p.Ser1152Ala) c.3352T>G (p.Ser1118Ala) c.2983T>G (p.Ser995Ala) | dbSNP |
| 5 | g.112839431_112839439dup | CA913189673 | APC | c.3502_3510dup (n.3502_3510dup) c.3891_3899dup (p.Ser1300_Ala1301insLeuSerSer) c.*3843_*3851dup (n.*3843_*3851dup) c.3783_3791dup (p.Ser1264_Ala1265insLeuSerSer) c.3837_3845dup (p.Ser1282_Ala1283insLeuSerSer) c.2190_2198dup c.*3159_*3167dup (n.*3159_*3167dup) c.230+10459_230+10467dup c.3867_3875dup (p.Ser1292_Ala1293insLeuSerSer) c.3762_3770dup (p.Ser1257_Ala1258insLeuSerSer) c.3753_3761dup (p.Ser1254_Ala1255insLeuSerSer) c.3714_3722dup (p.Ser1241_Ala1242insLeuSerSer) c.3660_3668dup (p.Ser1223_Ala1224insLeuSerSer) c.3564_3572dup (p.Ser1191_Ala1192insLeuSerSer) c.3534_3542dup (p.Ser1181_Ala1182insLeuSerSer) c.3459_3467dup (p.Ser1156_Ala1157insLeuSerSer) c.3357_3365dup (p.Ser1122_Ala1123insLeuSerSer) c.2988_2996dup (p.Ser999_Ala1000insLeuSerSer) | ClinVar dbSNP |
| 5 | g.112839427C>A | CA16029741 | APC | c.3498C>A (n.3498C>A) c.3887C>A (p.Ser1296Ter) c.*3839C>A (n.*3839C>A) c.3779C>A (p.Ser1260Ter) c.3833C>A (p.Ser1278Ter) c.2186C>A c.*3155C>A (n.*3155C>A) c.230+10455C>A c.3863C>A (p.Ser1288Ter) c.3758C>A (p.Ser1253Ter) c.3749C>A (p.Ser1250Ter) c.3710C>A (p.Ser1237Ter) c.3656C>A (p.Ser1219Ter) c.3560C>A (p.Ser1187Ter) c.3530C>A (p.Ser1177Ter) c.3455C>A (p.Ser1152Ter) c.3353C>A (p.Ser1118Ter) c.2984C>A (p.Ser995Ter) | dbSNP COSMIC |
| 5 | g.112839427C>G | CA16029742 | APC | c.3498C>G (n.3498C>G) c.3887C>G (p.Ser1296Ter) c.*3839C>G (n.*3839C>G) c.3779C>G (p.Ser1260Ter) c.3833C>G (p.Ser1278Ter) c.2186C>G c.*3155C>G (n.*3155C>G) c.230+10455C>G c.3863C>G (p.Ser1288Ter) c.3758C>G (p.Ser1253Ter) c.3749C>G (p.Ser1250Ter) c.3710C>G (p.Ser1237Ter) c.3656C>G (p.Ser1219Ter) c.3560C>G (p.Ser1187Ter) c.3530C>G (p.Ser1177Ter) c.3455C>G (p.Ser1152Ter) c.3353C>G (p.Ser1118Ter) c.2984C>G (p.Ser995Ter) | dbSNP |
| 5 | g.112839427C>T | CA16029743 | APC | c.3498C>T (n.3498C>T) c.3887C>T (p.Ser1296Leu) c.*3839C>T (n.*3839C>T) c.3779C>T (p.Ser1260Leu) c.3833C>T (p.Ser1278Leu) c.2186C>T c.*3155C>T (n.*3155C>T) c.230+10455C>T c.3863C>T (p.Ser1288Leu) c.3758C>T (p.Ser1253Leu) c.3749C>T (p.Ser1250Leu) c.3710C>T (p.Ser1237Leu) c.3656C>T (p.Ser1219Leu) c.3560C>T (p.Ser1187Leu) c.3530C>T (p.Ser1177Leu) c.3455C>T (p.Ser1152Leu) c.3353C>T (p.Ser1118Leu) c.2984C>T (p.Ser995Leu) | dbSNP |
| 5 | g.112839427_112839428delinsT | CA658760591 | APC | c.3498_3499delinsT (n.3498_3499delinsT) c.3887_3888delinsT (p.Ser1296PhefsTer10) c.*3839_*3840delinsT (n.*3839_*3840delinsT) c.3779_3780delinsT (p.Ser1260PhefsTer10) c.3833_3834delinsT (p.Ser1278PhefsTer10) c.2186_2187delinsT c.*3155_*3156delinsT (n.*3155_*3156delinsT) c.230+10455_230+10456delinsT c.3863_3864delinsT (p.Ser1288PhefsTer10) c.3758_3759delinsT (p.Ser1253PhefsTer10) c.3749_3750delinsT (p.Ser1250PhefsTer10) c.3710_3711delinsT (p.Ser1237PhefsTer10) c.3656_3657delinsT (p.Ser1219PhefsTer10) c.3560_3561delinsT (p.Ser1187PhefsTer10) c.3530_3531delinsT (p.Ser1177PhefsTer10) c.3455_3456delinsT (p.Ser1152PhefsTer10) c.3353_3354delinsT (p.Ser1118PhefsTer10) c.2984_2985delinsT (p.Ser995PhefsTer10) | |
| 5 | g.112839427_112839428insG | CA2695205225 | APC | c.3498_3499insG (n.3498_3499insG) c.3887_3888insG (p.Ser1297IlefsTer6) c.*3839_*3840insG (n.*3839_*3840insG) c.3779_3780insG (p.Ser1261IlefsTer6) c.3833_3834insG (p.Ser1279IlefsTer6) c.2186_2187insG c.*3155_*3156insG (n.*3155_*3156insG) c.230+10455_230+10456insG c.3863_3864insG (p.Ser1289IlefsTer6) c.3758_3759insG (p.Ser1254IlefsTer6) c.3749_3750insG (p.Ser1251IlefsTer6) c.3710_3711insG (p.Ser1238IlefsTer6) c.3656_3657insG (p.Ser1220IlefsTer6) c.3560_3561insG (p.Ser1188IlefsTer6) c.3530_3531insG (p.Ser1178IlefsTer6) c.3455_3456insG (p.Ser1153IlefsTer6) c.3353_3354insG (p.Ser1119IlefsTer6) c.2984_2985insG (p.Ser996IlefsTer6) | |
| 5 | g.112839428A>C | CA445963726 | APC | c.3499A>C (n.3499A>C) c.3888A>C (p.Ser1296=) c.*3840A>C (n.*3840A>C) c.3780A>C (p.Ser1260=) c.3834A>C (p.Ser1278=) c.2187A>C c.*3156A>C (n.*3156A>C) c.230+10456A>C c.3864A>C (p.Ser1288=) c.3759A>C (p.Ser1253=) c.3750A>C (p.Ser1250=) c.3711A>C (p.Ser1237=) c.3657A>C (p.Ser1219=) c.3561A>C (p.Ser1187=) c.3531A>C (p.Ser1177=) c.3456A>C (p.Ser1152=) c.3354A>C (p.Ser1118=) c.2985A>C (p.Ser995=) | dbSNP |
| 5 | g.112839428A>G | CA445963727 | APC | c.3499A>G (n.3499A>G) c.3888A>G (p.Ser1296=) c.*3840A>G (n.*3840A>G) c.3780A>G (p.Ser1260=) c.3834A>G (p.Ser1278=) c.2187A>G c.*3156A>G (n.*3156A>G) c.230+10456A>G c.3864A>G (p.Ser1288=) c.3759A>G (p.Ser1253=) c.3750A>G (p.Ser1250=) c.3711A>G (p.Ser1237=) c.3657A>G (p.Ser1219=) c.3561A>G (p.Ser1187=) c.3531A>G (p.Ser1177=) c.3456A>G (p.Ser1152=) c.3354A>G (p.Ser1118=) c.2985A>G (p.Ser995=) | dbSNP |
| 5 | g.112839428A>T | CA445963728 | APC | c.3499A>T (n.3499A>T) c.3888A>T (p.Ser1296=) c.*3840A>T (n.*3840A>T) c.3780A>T (p.Ser1260=) c.3834A>T (p.Ser1278=) c.2187A>T c.*3156A>T (n.*3156A>T) c.230+10456A>T c.3864A>T (p.Ser1288=) c.3759A>T (p.Ser1253=) c.3750A>T (p.Ser1250=) c.3711A>T (p.Ser1237=) c.3657A>T (p.Ser1219=) c.3561A>T (p.Ser1187=) c.3531A>T (p.Ser1177=) c.3456A>T (p.Ser1152=) c.3354A>T (p.Ser1118=) c.2985A>T (p.Ser995=) | dbSNP |
| 5 | g.112839429T>A | CA16029744 | APC | c.3500T>A (n.3500T>A) c.3889T>A (p.Ser1297Thr) c.*3841T>A (n.*3841T>A) c.3781T>A (p.Ser1261Thr) c.3835T>A (p.Ser1279Thr) c.2188T>A c.*3157T>A (n.*3157T>A) c.230+10457T>A c.3865T>A (p.Ser1289Thr) c.3760T>A (p.Ser1254Thr) c.3751T>A (p.Ser1251Thr) c.3712T>A (p.Ser1238Thr) c.3658T>A (p.Ser1220Thr) c.3562T>A (p.Ser1188Thr) c.3532T>A (p.Ser1178Thr) c.3457T>A (p.Ser1153Thr) c.3355T>A (p.Ser1119Thr) c.2986T>A (p.Ser996Thr) | dbSNP |
| 5 | g.112839429T>C | CA16029745 | APC | c.3500T>C (n.3500T>C) c.3889T>C (p.Ser1297Pro) c.*3841T>C (n.*3841T>C) c.3781T>C (p.Ser1261Pro) c.3835T>C (p.Ser1279Pro) c.2188T>C c.*3157T>C (n.*3157T>C) c.230+10457T>C c.3865T>C (p.Ser1289Pro) c.3760T>C (p.Ser1254Pro) c.3751T>C (p.Ser1251Pro) c.3712T>C (p.Ser1238Pro) c.3658T>C (p.Ser1220Pro) c.3562T>C (p.Ser1188Pro) c.3532T>C (p.Ser1178Pro) c.3457T>C (p.Ser1153Pro) c.3355T>C (p.Ser1119Pro) c.2986T>C (p.Ser996Pro) | ClinVar dbSNP |
| 5 | g.112839429T>G | CA16029746 | APC | c.3500T>G (n.3500T>G) c.3889T>G (p.Ser1297Ala) c.*3841T>G (n.*3841T>G) c.3781T>G (p.Ser1261Ala) c.3835T>G (p.Ser1279Ala) c.2188T>G c.*3157T>G (n.*3157T>G) c.230+10457T>G c.3865T>G (p.Ser1289Ala) c.3760T>G (p.Ser1254Ala) c.3751T>G (p.Ser1251Ala) c.3712T>G (p.Ser1238Ala) c.3658T>G (p.Ser1220Ala) c.3562T>G (p.Ser1188Ala) c.3532T>G (p.Ser1178Ala) c.3457T>G (p.Ser1153Ala) c.3355T>G (p.Ser1119Ala) c.2986T>G (p.Ser996Ala) | |
| 5 | g.112839430C>A | CA16029747 | APC | c.3501C>A (n.3501C>A) c.3890C>A (p.Ser1297Tyr) c.*3842C>A (n.*3842C>A) c.3782C>A (p.Ser1261Tyr) c.3836C>A (p.Ser1279Tyr) c.2189C>A c.*3158C>A (n.*3158C>A) c.230+10458C>A c.3866C>A (p.Ser1289Tyr) c.3761C>A (p.Ser1254Tyr) c.3752C>A (p.Ser1251Tyr) c.3713C>A (p.Ser1238Tyr) c.3659C>A (p.Ser1220Tyr) c.3563C>A (p.Ser1188Tyr) c.3533C>A (p.Ser1178Tyr) c.3458C>A (p.Ser1153Tyr) c.3356C>A (p.Ser1119Tyr) c.2987C>A (p.Ser996Tyr) | ClinVar dbSNP |
| 5 | g.112839430C>G | CA16029748 | APC | c.3501C>G (n.3501C>G) c.3890C>G (p.Ser1297Cys) c.*3842C>G (n.*3842C>G) c.3782C>G (p.Ser1261Cys) c.3836C>G (p.Ser1279Cys) c.2189C>G c.*3158C>G (n.*3158C>G) c.230+10458C>G c.3866C>G (p.Ser1289Cys) c.3761C>G (p.Ser1254Cys) c.3752C>G (p.Ser1251Cys) c.3713C>G (p.Ser1238Cys) c.3659C>G (p.Ser1220Cys) c.3563C>G (p.Ser1188Cys) c.3533C>G (p.Ser1178Cys) c.3458C>G (p.Ser1153Cys) c.3356C>G (p.Ser1119Cys) c.2987C>G (p.Ser996Cys) | |
| 5 | g.112839430C>T | CA16029749 | APC | c.3501C>T (n.3501C>T) c.3890C>T (p.Ser1297Phe) c.*3842C>T (n.*3842C>T) c.3782C>T (p.Ser1261Phe) c.3836C>T (p.Ser1279Phe) c.2189C>T c.*3158C>T (n.*3158C>T) c.230+10458C>T c.3866C>T (p.Ser1289Phe) c.3761C>T (p.Ser1254Phe) c.3752C>T (p.Ser1251Phe) c.3713C>T (p.Ser1238Phe) c.3659C>T (p.Ser1220Phe) c.3563C>T (p.Ser1188Phe) c.3533C>T (p.Ser1178Phe) c.3458C>T (p.Ser1153Phe) c.3356C>T (p.Ser1119Phe) c.2987C>T (p.Ser996Phe) | dbSNP |
| 5 | g.112839430_112839431delinsCT | CA1573490761 | APC | c.3501_3502delinsCT (n.3501_3502delinsCT) c.3890_3891delinsCT (p.Ser1297=) c.*3842_*3843delinsCT (n.*3842_*3843delinsCT) c.3782_3783delinsCT (p.Ser1261=) c.3836_3837delinsCT (p.Ser1279=) c.2189_2190delinsCT c.*3158_*3159delinsCT (n.*3158_*3159delinsCT) c.230+10458_230+10459delinsCT c.3866_3867delinsCT (p.Ser1289=) c.3761_3762delinsCT (p.Ser1254=) c.3752_3753delinsCT (p.Ser1251=) c.3713_3714delinsCT (p.Ser1238=) c.3659_3660delinsCT (p.Ser1220=) c.3563_3564delinsCT (p.Ser1188=) c.3533_3534delinsCT (p.Ser1178=) c.3458_3459delinsCT (p.Ser1153=) c.3356_3357delinsCT (p.Ser1119=) c.2987_2988delinsCT (p.Ser996=) | |
| 5 | g.112839431T>A | CA445963729 | APC | c.3502T>A (n.3502T>A) c.3891T>A (p.Ser1297=) c.*3843T>A (n.*3843T>A) c.3783T>A (p.Ser1261=) c.3837T>A (p.Ser1279=) c.2190T>A c.*3159T>A (n.*3159T>A) c.230+10459T>A c.3867T>A (p.Ser1289=) c.3762T>A (p.Ser1254=) c.3753T>A (p.Ser1251=) c.3714T>A (p.Ser1238=) c.3660T>A (p.Ser1220=) c.3564T>A (p.Ser1188=) c.3534T>A (p.Ser1178=) c.3459T>A (p.Ser1153=) c.3357T>A (p.Ser1119=) c.2988T>A (p.Ser996=) | dbSNP |
| 5 | g.112839431T>C | CA445963730 | APC | c.3502T>C (n.3502T>C) c.3891T>C (p.Ser1297=) c.*3843T>C (n.*3843T>C) c.3783T>C (p.Ser1261=) c.3837T>C (p.Ser1279=) c.2190T>C c.*3159T>C (n.*3159T>C) c.230+10459T>C c.3867T>C (p.Ser1289=) c.3762T>C (p.Ser1254=) c.3753T>C (p.Ser1251=) c.3714T>C (p.Ser1238=) c.3660T>C (p.Ser1220=) c.3564T>C (p.Ser1188=) c.3534T>C (p.Ser1178=) c.3459T>C (p.Ser1153=) c.3357T>C (p.Ser1119=) c.2988T>C (p.Ser996=) | dbSNP |
| 5 | g.112839431T>G | CA16604748 | APC | c.3502T>G (n.3502T>G) c.3891T>G (p.Ser1297=) c.*3843T>G (n.*3843T>G) c.3783T>G (p.Ser1261=) c.3837T>G (p.Ser1279=) c.2190T>G c.*3159T>G (n.*3159T>G) c.230+10459T>G c.3867T>G (p.Ser1289=) c.3762T>G (p.Ser1254=) c.3753T>G (p.Ser1251=) c.3714T>G (p.Ser1238=) c.3660T>G (p.Ser1220=) c.3564T>G (p.Ser1188=) c.3534T>G (p.Ser1178=) c.3459T>G (p.Ser1153=) c.3357T>G (p.Ser1119=) c.2988T>G (p.Ser996=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.112839431T= | CA1573490770 | APC | c.3502T= (n.3502T=) c.3891T= (p.Ser1297=) c.*3843T= (n.*3843T=) c.3783T= (p.Ser1261=) c.3837T= (p.Ser1279=) c.2190T= c.*3159T= (n.*3159T=) c.230+10459T= c.3867T= (p.Ser1289=) c.3762T= (p.Ser1254=) c.3753T= (p.Ser1251=) c.3714T= (p.Ser1238=) c.3660T= (p.Ser1220=) c.3564T= (p.Ser1188=) c.3534T= (p.Ser1178=) c.3459T= (p.Ser1153=) c.3357T= (p.Ser1119=) c.2988T= (p.Ser996=) | |
| 5 | g.112839433dup | CA645543608 | APC | c.3504dup (n.3504dup) c.3893dup (p.Leu1298PhefsTer5) c.*3845dup (n.*3845dup) c.3785dup (p.Leu1262PhefsTer5) c.3839dup (p.Leu1280PhefsTer5) c.2192dup c.*3161dup (n.*3161dup) c.230+10461dup c.3869dup (p.Leu1290PhefsTer5) c.3764dup (p.Leu1255PhefsTer5) c.3755dup (p.Leu1252PhefsTer5) c.3716dup (p.Leu1239PhefsTer5) c.3662dup (p.Leu1221PhefsTer5) c.3566dup (p.Leu1189PhefsTer5) c.3536dup (p.Leu1179PhefsTer5) c.3461dup (p.Leu1154PhefsTer5) c.3359dup (p.Leu1120PhefsTer5) c.2990dup (p.Leu997PhefsTer5) | ClinVar dbSNP COSMIC |