UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.112839571_112839608del | CA645543682 | APC | c.3642_3679del (n.3642_3679del) c.4031_4068del (p.Val1344GlyfsTer3) c.*3983_*4020del (n.*3983_*4020del) c.3923_3960del (p.Val1308GlyfsTer3) c.3977_4014del (p.Val1326GlyfsTer3) c.2330_2367del c.*3299_*3336del (n.*3299_*3336del) c.230+10599_230+10636del c.4007_4044del (p.Val1336GlyfsTer3) c.3902_3939del (p.Val1301GlyfsTer3) c.3893_3930del (p.Val1298GlyfsTer3) c.3854_3891del (p.Val1285GlyfsTer3) c.3800_3837del (p.Val1267GlyfsTer3) c.3704_3741del (p.Val1235GlyfsTer3) c.3674_3711del (p.Val1225GlyfsTer3) c.3599_3636del (p.Val1200GlyfsTer3) c.3497_3534del (p.Val1166GlyfsTer3) c.3128_3165del (p.Val1043GlyfsTer3) | COSMIC |
| 5 | g.112839598_112839628del | CA645543691 | APC | c.3669_3699del (n.3669_3699del) c.4058_4088del (p.Ser1353AsnfsTer?) c.*4010_*4040del (n.*4010_*4040del) c.3950_3980del (p.Ser1317AsnfsTer?) c.4004_4034del (p.Ser1335AsnfsTer?) c.2357_2387del c.*3326_*3356del (n.*3326_*3356del) c.230+10626_230+10656del c.4034_4064del (p.Ser1345AsnfsTer?) c.3929_3959del (p.Ser1310AsnfsTer?) c.3920_3950del (p.Ser1307AsnfsTer?) c.3881_3911del (p.Ser1294AsnfsTer?) c.3827_3857del (p.Ser1276AsnfsTer?) c.3731_3761del (p.Ser1244AsnfsTer?) c.3701_3731del (p.Ser1234AsnfsTer?) c.3626_3656del (p.Ser1209AsnfsTer?) c.3524_3554del (p.Ser1175AsnfsTer?) c.3155_3185del (p.Ser1052AsnfsTer?) | COSMIC |
| 5 | g.112839602_112839608dup | CA645543694 | APC | c.3673_3679dup (n.3673_3679dup) c.4062_4068dup (p.Gly1357ThrfsTer5) c.*4014_*4020dup (n.*4014_*4020dup) c.3954_3960dup (p.Gly1321ThrfsTer5) c.4008_4014dup (p.Gly1339ThrfsTer5) c.2361_2367dup c.*3330_*3336dup (n.*3330_*3336dup) c.230+10630_230+10636dup c.4038_4044dup (p.Gly1349ThrfsTer5) c.3933_3939dup (p.Gly1314ThrfsTer5) c.3924_3930dup (p.Gly1311ThrfsTer5) c.3885_3891dup (p.Gly1298ThrfsTer5) c.3831_3837dup (p.Gly1280ThrfsTer5) c.3735_3741dup (p.Gly1248ThrfsTer5) c.3705_3711dup (p.Gly1238ThrfsTer5) c.3630_3636dup (p.Gly1213ThrfsTer5) c.3528_3534dup (p.Gly1179ThrfsTer5) c.3159_3165dup (p.Gly1056ThrfsTer5) | COSMIC |
| 5 | g.112839602_112839608del | CA645543693 | APC | c.3673_3679del (n.3673_3679del) c.4062_4068del (p.Leu1355ValfsTer?) c.*4014_*4020del (n.*4014_*4020del) c.3954_3960del (p.Leu1319ValfsTer?) c.4008_4014del (p.Leu1337ValfsTer?) c.2361_2367del c.*3330_*3336del (n.*3330_*3336del) c.230+10630_230+10636del c.4038_4044del (p.Leu1347ValfsTer?) c.3933_3939del (p.Leu1312ValfsTer?) c.3924_3930del (p.Leu1309ValfsTer?) c.3885_3891del (p.Leu1296ValfsTer?) c.3831_3837del (p.Leu1278ValfsTer?) c.3735_3741del (p.Leu1246ValfsTer?) c.3705_3711del (p.Leu1236ValfsTer?) c.3630_3636del (p.Leu1211ValfsTer?) c.3528_3534del (p.Leu1177ValfsTer?) c.3159_3165del (p.Leu1054ValfsTer?) | COSMIC |
| 5 | g.112839601_112839775del | CA658760640 | APC | c.3672_3846del (n.3672_3846del) c.4061_4235del (p.Arg1354IlefsTer21) c.*4013_*4187del (n.*4013_*4187del) c.3953_4127del (p.Arg1318IlefsTer21) c.4007_4181del (p.Arg1336IlefsTer21) c.2360_2534del c.*3329_*3503del (n.*3329_*3503del) c.230+10629_230+10803del c.4037_4211del (p.Arg1346IlefsTer21) c.3932_4106del (p.Arg1311IlefsTer21) c.3923_4097del (p.Arg1308IlefsTer21) c.3884_4058del (p.Arg1295IlefsTer21) c.3830_4004del (p.Arg1277IlefsTer21) c.3734_3908del (p.Arg1245IlefsTer21) c.3704_3878del (p.Arg1235IlefsTer21) c.3629_3803del (p.Arg1210IlefsTer21) c.3527_3701del (p.Arg1176IlefsTer21) c.3158_3332del (p.Arg1053IlefsTer21) | |
| 5 | g.112839603_112839775del | CA2695205238 | APC | c.3674_3846del (n.3674_3846del) c.4063_4235del (p.Leu1355Ter) c.*4015_*4187del (n.*4015_*4187del) c.3955_4127del (p.Leu1319Ter) c.4009_4181del (p.Leu1337Ter) c.2362_2534del c.*3331_*3503del (n.*3331_*3503del) c.230+10631_230+10803del c.4039_4211del (p.Leu1347Ter) c.3934_4106del (p.Leu1312Ter) c.3925_4097del (p.Leu1309Ter) c.3886_4058del (p.Leu1296Ter) c.3832_4004del (p.Leu1278Ter) c.3736_3908del (p.Leu1246Ter) c.3706_3878del (p.Leu1236Ter) c.3631_3803del (p.Leu1211Ter) c.3529_3701del (p.Leu1177Ter) c.3160_3332del (p.Leu1054Ter) | |
| 5 | g.112839604_112839607dup | CA645369376 | APC | c.3675_3678dup (n.3675_3678dup) c.4064_4067dup (p.Gln1356HisfsTer5) c.*4016_*4019dup (n.*4016_*4019dup) c.3956_3959dup (p.Gln1320HisfsTer5) c.4010_4013dup (p.Gln1338HisfsTer5) c.2363_2366dup c.*3332_*3335dup (n.*3332_*3335dup) c.230+10632_230+10635dup c.4040_4043dup (p.Gln1348HisfsTer5) c.3935_3938dup (p.Gln1313HisfsTer5) c.3926_3929dup (p.Gln1310HisfsTer5) c.3887_3890dup (p.Gln1297HisfsTer5) c.3833_3836dup (p.Gln1279HisfsTer5) c.3737_3740dup (p.Gln1247HisfsTer5) c.3707_3710dup (p.Gln1237HisfsTer5) c.3632_3635dup (p.Gln1212HisfsTer5) c.3530_3533dup (p.Gln1178HisfsTer5) c.3161_3164dup (p.Gln1055HisfsTer5) | ClinVar dbSNP |
| 5 | g.112839605_112839606delinsCT | CA645543697 | APC | c.3676_3677delinsCT (n.3676_3677delinsCT) c.4065_4066delinsCT (p.Leu1356Ter) c.*4017_*4018delinsCT (n.*4017_*4018delinsCT) c.3957_3958delinsCT (p.Leu1320Ter) c.4011_4012delinsCT (p.Leu1338Ter) c.2364_2365delinsCT c.*3333_*3334delinsCT (n.*3333_*3334delinsCT) c.230+10633_230+10634delinsCT c.4041_4042delinsCT (p.Leu1348Ter) c.3936_3937delinsCT (p.Leu1313Ter) c.3927_3928delinsCT (p.Leu1310Ter) c.3888_3889delinsCT (p.Leu1297Ter) c.3834_3835delinsCT (p.Leu1279Ter) c.3738_3739delinsCT (p.Leu1247Ter) c.3708_3709delinsCT (p.Leu1237Ter) c.3633_3634delinsCT (p.Leu1212Ter) c.3531_3532delinsCT (p.Leu1178Ter) c.3162_3163delinsCT (p.Leu1055Ter) | ClinVar COSMIC |
| 5 | g.112839606C>A | CA16030128 | APC | c.3677C>A (n.3677C>A) c.4066C>A (p.Gln1356Lys) c.*4018C>A (n.*4018C>A) c.3958C>A (p.Gln1320Lys) c.4012C>A (p.Gln1338Lys) c.2365C>A c.*3334C>A (n.*3334C>A) c.230+10634C>A c.4042C>A (p.Gln1348Lys) c.3937C>A (p.Gln1313Lys) c.3928C>A (p.Gln1310Lys) c.3889C>A (p.Gln1297Lys) c.3835C>A (p.Gln1279Lys) c.3739C>A (p.Gln1247Lys) c.3709C>A (p.Gln1237Lys) c.3634C>A (p.Gln1212Lys) c.3532C>A (p.Gln1178Lys) c.3163C>A (p.Gln1055Lys) | |
| 5 | g.112839606C= | CA1573491619 | APC | c.3677C= (n.3677C=) c.4066C= (p.Gln1356=) c.*4018C= (n.*4018C=) c.3958C= (p.Gln1320=) c.4012C= (p.Gln1338=) c.2365C= c.*3334C= (n.*3334C=) c.230+10634C= c.4042C= (p.Gln1348=) c.3937C= (p.Gln1313=) c.3928C= (p.Gln1310=) c.3889C= (p.Gln1297=) c.3835C= (p.Gln1279=) c.3739C= (p.Gln1247=) c.3709C= (p.Gln1237=) c.3634C= (p.Gln1212=) c.3532C= (p.Gln1178=) c.3163C= (p.Gln1055=) | |
| 5 | g.112839606C>G | CA16030129 | APC | c.3677C>G (n.3677C>G) c.4066C>G (p.Gln1356Glu) c.*4018C>G (n.*4018C>G) c.3958C>G (p.Gln1320Glu) c.4012C>G (p.Gln1338Glu) c.2365C>G c.*3334C>G (n.*3334C>G) c.230+10634C>G c.4042C>G (p.Gln1348Glu) c.3937C>G (p.Gln1313Glu) c.3928C>G (p.Gln1310Glu) c.3889C>G (p.Gln1297Glu) c.3835C>G (p.Gln1279Glu) c.3739C>G (p.Gln1247Glu) c.3709C>G (p.Gln1237Glu) c.3634C>G (p.Gln1212Glu) c.3532C>G (p.Gln1178Glu) c.3163C>G (p.Gln1055Glu) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112839606C>T | CA008865 | APC | c.3677C>T (n.3677C>T) c.4066C>T (p.Gln1356Ter) c.*4018C>T (n.*4018C>T) c.3958C>T (p.Gln1320Ter) c.4012C>T (p.Gln1338Ter) c.2365C>T c.*3334C>T (n.*3334C>T) c.230+10634C>T c.4042C>T (p.Gln1348Ter) c.3937C>T (p.Gln1313Ter) c.3928C>T (p.Gln1310Ter) c.3889C>T (p.Gln1297Ter) c.3835C>T (p.Gln1279Ter) c.3739C>T (p.Gln1247Ter) c.3709C>T (p.Gln1237Ter) c.3634C>T (p.Gln1212Ter) c.3532C>T (p.Gln1178Ter) c.3163C>T (p.Gln1055Ter) | ClinVar dbSNP gnomAD v2 COSMIC |
| 5 | g.112839607A= | CA1573491624 | APC | c.3678A= (n.3678A=) c.4067A= (p.Gln1356=) c.*4019A= (n.*4019A=) c.3959A= (p.Gln1320=) c.4013A= (p.Gln1338=) c.2366A= c.*3335A= (n.*3335A=) c.230+10635A= c.4043A= (p.Gln1348=) c.3938A= (p.Gln1313=) c.3929A= (p.Gln1310=) c.3890A= (p.Gln1297=) c.3836A= (p.Gln1279=) c.3740A= (p.Gln1247=) c.3710A= (p.Gln1237=) c.3635A= (p.Gln1212=) c.3533A= (p.Gln1178=) c.3164A= (p.Gln1055=) | |
| 5 | g.112839607A>C | CA16030130 | APC | c.3678A>C (n.3678A>C) c.4067A>C (p.Gln1356Pro) c.*4019A>C (n.*4019A>C) c.3959A>C (p.Gln1320Pro) c.4013A>C (p.Gln1338Pro) c.2366A>C c.*3335A>C (n.*3335A>C) c.230+10635A>C c.4043A>C (p.Gln1348Pro) c.3938A>C (p.Gln1313Pro) c.3929A>C (p.Gln1310Pro) c.3890A>C (p.Gln1297Pro) c.3836A>C (p.Gln1279Pro) c.3740A>C (p.Gln1247Pro) c.3710A>C (p.Gln1237Pro) c.3635A>C (p.Gln1212Pro) c.3533A>C (p.Gln1178Pro) c.3164A>C (p.Gln1055Pro) | ClinVar dbSNP |
| 5 | g.112839607A>G | CA037359 | APC | c.3678A>G (n.3678A>G) c.4067A>G (p.Gln1356Arg) c.*4019A>G (n.*4019A>G) c.3959A>G (p.Gln1320Arg) c.4013A>G (p.Gln1338Arg) c.2366A>G c.*3335A>G (n.*3335A>G) c.230+10635A>G c.4043A>G (p.Gln1348Arg) c.3938A>G (p.Gln1313Arg) c.3929A>G (p.Gln1310Arg) c.3890A>G (p.Gln1297Arg) c.3836A>G (p.Gln1279Arg) c.3740A>G (p.Gln1247Arg) c.3710A>G (p.Gln1237Arg) c.3635A>G (p.Gln1212Arg) c.3533A>G (p.Gln1178Arg) c.3164A>G (p.Gln1055Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112839607A>T | CA16030131 | APC | c.3678A>T (n.3678A>T) c.4067A>T (p.Gln1356Leu) c.*4019A>T (n.*4019A>T) c.3959A>T (p.Gln1320Leu) c.4013A>T (p.Gln1338Leu) c.2366A>T c.*3335A>T (n.*3335A>T) c.230+10635A>T c.4043A>T (p.Gln1348Leu) c.3938A>T (p.Gln1313Leu) c.3929A>T (p.Gln1310Leu) c.3890A>T (p.Gln1297Leu) c.3836A>T (p.Gln1279Leu) c.3740A>T (p.Gln1247Leu) c.3710A>T (p.Gln1237Leu) c.3635A>T (p.Gln1212Leu) c.3533A>T (p.Gln1178Leu) c.3164A>T (p.Gln1055Leu) | dbSNP |
| 5 | g.112839608G>A | CA445964038 | APC | c.3679G>A (n.3679G>A) c.4068G>A (p.Gln1356=) c.*4020G>A (n.*4020G>A) c.3960G>A (p.Gln1320=) c.4014G>A (p.Gln1338=) c.2367G>A c.*3336G>A (n.*3336G>A) c.230+10636G>A c.4044G>A (p.Gln1348=) c.3939G>A (p.Gln1313=) c.3930G>A (p.Gln1310=) c.3891G>A (p.Gln1297=) c.3837G>A (p.Gln1279=) c.3741G>A (p.Gln1247=) c.3711G>A (p.Gln1237=) c.3636G>A (p.Gln1212=) c.3534G>A (p.Gln1178=) c.3165G>A (p.Gln1055=) | dbSNP |
| 5 | g.112839608G>C | CA16030132 | APC | c.3679G>C (n.3679G>C) c.4068G>C (p.Gln1356His) c.*4020G>C (n.*4020G>C) c.3960G>C (p.Gln1320His) c.4014G>C (p.Gln1338His) c.2367G>C c.*3336G>C (n.*3336G>C) c.230+10636G>C c.4044G>C (p.Gln1348His) c.3939G>C (p.Gln1313His) c.3930G>C (p.Gln1310His) c.3891G>C (p.Gln1297His) c.3837G>C (p.Gln1279His) c.3741G>C (p.Gln1247His) c.3711G>C (p.Gln1237His) c.3636G>C (p.Gln1212His) c.3534G>C (p.Gln1178His) c.3165G>C (p.Gln1055His) | dbSNP |
| 5 | g.112839608G>T | CA16030133 | APC | c.3679G>T (n.3679G>T) c.4068G>T (p.Gln1356His) c.*4020G>T (n.*4020G>T) c.3960G>T (p.Gln1320His) c.4014G>T (p.Gln1338His) c.2367G>T c.*3336G>T (n.*3336G>T) c.230+10636G>T c.4044G>T (p.Gln1348His) c.3939G>T (p.Gln1313His) c.3930G>T (p.Gln1310His) c.3891G>T (p.Gln1297His) c.3837G>T (p.Gln1279His) c.3741G>T (p.Gln1247His) c.3711G>T (p.Gln1237His) c.3636G>T (p.Gln1212His) c.3534G>T (p.Gln1178His) c.3165G>T (p.Gln1055His) | dbSNP |
| 5 | g.112839610del | CA445964039 | APC | c.3681del (n.3681del) c.4070del (p.Gly1357ValfsTer?) c.*4022del (n.*4022del) c.3962del (p.Gly1321ValfsTer?) c.4016del (p.Gly1339ValfsTer?) c.2369del c.*3338del (n.*3338del) c.230+10638del c.4046del (p.Gly1349ValfsTer?) c.3941del (p.Gly1314ValfsTer?) c.3932del (p.Gly1311ValfsTer?) c.3893del (p.Gly1298ValfsTer?) c.3839del (p.Gly1280ValfsTer?) c.3743del (p.Gly1248ValfsTer?) c.3713del (p.Gly1238ValfsTer?) c.3638del (p.Gly1213ValfsTer?) c.3536del (p.Gly1179ValfsTer?) c.3167del (p.Gly1056ValfsTer?) | COSMIC |
| 5 | g.112839609G>A | CA10578363 | APC | c.3680G>A (n.3680G>A) c.4069G>A (p.Gly1357Ser) c.*4021G>A (n.*4021G>A) c.3961G>A (p.Gly1321Ser) c.4015G>A (p.Gly1339Ser) c.2368G>A c.*3337G>A (n.*3337G>A) c.230+10637G>A c.4045G>A (p.Gly1349Ser) c.3940G>A (p.Gly1314Ser) c.3931G>A (p.Gly1311Ser) c.3892G>A (p.Gly1298Ser) c.3838G>A (p.Gly1280Ser) c.3742G>A (p.Gly1248Ser) c.3712G>A (p.Gly1238Ser) c.3637G>A (p.Gly1213Ser) c.3535G>A (p.Gly1179Ser) c.3166G>A (p.Gly1056Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.112839609G>C | CA10578364 | APC | c.3680G>C (n.3680G>C) c.4069G>C (p.Gly1357Arg) c.*4021G>C (n.*4021G>C) c.3961G>C (p.Gly1321Arg) c.4015G>C (p.Gly1339Arg) c.2368G>C c.*3337G>C (n.*3337G>C) c.230+10637G>C c.4045G>C (p.Gly1349Arg) c.3940G>C (p.Gly1314Arg) c.3931G>C (p.Gly1311Arg) c.3892G>C (p.Gly1298Arg) c.3838G>C (p.Gly1280Arg) c.3742G>C (p.Gly1248Arg) c.3712G>C (p.Gly1238Arg) c.3637G>C (p.Gly1213Arg) c.3535G>C (p.Gly1179Arg) c.3166G>C (p.Gly1056Arg) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112839609G= | CA1573491634 | APC | c.3680G= (n.3680G=) c.4069G= (p.Gly1357=) c.*4021G= (n.*4021G=) c.3961G= (p.Gly1321=) c.4015G= (p.Gly1339=) c.2368G= c.*3337G= (n.*3337G=) c.230+10637G= c.4045G= (p.Gly1349=) c.3940G= (p.Gly1314=) c.3931G= (p.Gly1311=) c.3892G= (p.Gly1298=) c.3838G= (p.Gly1280=) c.3742G= (p.Gly1248=) c.3712G= (p.Gly1238=) c.3637G= (p.Gly1213=) c.3535G= (p.Gly1179=) c.3166G= (p.Gly1056=) | |
| 5 | g.112839609G>T | CA16030134 | APC | c.3680G>T (n.3680G>T) c.4069G>T (p.Gly1357Cys) c.*4021G>T (n.*4021G>T) c.3961G>T (p.Gly1321Cys) c.4015G>T (p.Gly1339Cys) c.2368G>T c.*3337G>T (n.*3337G>T) c.230+10637G>T c.4045G>T (p.Gly1349Cys) c.3940G>T (p.Gly1314Cys) c.3931G>T (p.Gly1311Cys) c.3892G>T (p.Gly1298Cys) c.3838G>T (p.Gly1280Cys) c.3742G>T (p.Gly1248Cys) c.3712G>T (p.Gly1238Cys) c.3637G>T (p.Gly1213Cys) c.3535G>T (p.Gly1179Cys) c.3166G>T (p.Gly1056Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.112839610G>A | CA037378 | APC | c.3681G>A (n.3681G>A) c.4070G>A (p.Gly1357Asp) c.*4022G>A (n.*4022G>A) c.3962G>A (p.Gly1321Asp) c.4016G>A (p.Gly1339Asp) c.2369G>A c.*3338G>A (n.*3338G>A) c.230+10638G>A c.4046G>A (p.Gly1349Asp) c.3941G>A (p.Gly1314Asp) c.3932G>A (p.Gly1311Asp) c.3893G>A (p.Gly1298Asp) c.3839G>A (p.Gly1280Asp) c.3743G>A (p.Gly1248Asp) c.3713G>A (p.Gly1238Asp) c.3638G>A (p.Gly1213Asp) c.3536G>A (p.Gly1179Asp) c.3167G>A (p.Gly1056Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.112839610G>C | CA16030135 | APC | c.3681G>C (n.3681G>C) c.4070G>C (p.Gly1357Ala) c.*4022G>C (n.*4022G>C) c.3962G>C (p.Gly1321Ala) c.4016G>C (p.Gly1339Ala) c.2369G>C c.*3338G>C (n.*3338G>C) c.230+10638G>C c.4046G>C (p.Gly1349Ala) c.3941G>C (p.Gly1314Ala) c.3932G>C (p.Gly1311Ala) c.3893G>C (p.Gly1298Ala) c.3839G>C (p.Gly1280Ala) c.3743G>C (p.Gly1248Ala) c.3713G>C (p.Gly1238Ala) c.3638G>C (p.Gly1213Ala) c.3536G>C (p.Gly1179Ala) c.3167G>C (p.Gly1056Ala) | dbSNP COSMIC |
| 5 | g.112839610G= | CA1573491641 | APC | c.3681G= (n.3681G=) c.4070G= (p.Gly1357=) c.*4022G= (n.*4022G=) c.3962G= (p.Gly1321=) c.4016G= (p.Gly1339=) c.2369G= c.*3338G= (n.*3338G=) c.230+10638G= c.4046G= (p.Gly1349=) c.3941G= (p.Gly1314=) c.3932G= (p.Gly1311=) c.3893G= (p.Gly1298=) c.3839G= (p.Gly1280=) c.3743G= (p.Gly1248=) c.3713G= (p.Gly1238=) c.3638G= (p.Gly1213=) c.3536G= (p.Gly1179=) c.3167G= (p.Gly1056=) | |
| 5 | g.112839610G>T | CA16030136 | APC | c.3681G>T (n.3681G>T) c.4070G>T (p.Gly1357Val) c.*4022G>T (n.*4022G>T) c.3962G>T (p.Gly1321Val) c.4016G>T (p.Gly1339Val) c.2369G>T c.*3338G>T (n.*3338G>T) c.230+10638G>T c.4046G>T (p.Gly1349Val) c.3941G>T (p.Gly1314Val) c.3932G>T (p.Gly1311Val) c.3893G>T (p.Gly1298Val) c.3839G>T (p.Gly1280Val) c.3743G>T (p.Gly1248Val) c.3713G>T (p.Gly1238Val) c.3638G>T (p.Gly1213Val) c.3536G>T (p.Gly1179Val) c.3167G>T (p.Gly1056Val) | |
| 5 | g.112839611T>A | CA445964040 | APC | c.3682T>A (n.3682T>A) c.4071T>A (p.Gly1357=) c.*4023T>A (n.*4023T>A) c.3963T>A (p.Gly1321=) c.4017T>A (p.Gly1339=) c.2370T>A c.*3339T>A (n.*3339T>A) c.230+10639T>A c.4047T>A (p.Gly1349=) c.3942T>A (p.Gly1314=) c.3933T>A (p.Gly1311=) c.3894T>A (p.Gly1298=) c.3840T>A (p.Gly1280=) c.3744T>A (p.Gly1248=) c.3714T>A (p.Gly1238=) c.3639T>A (p.Gly1213=) c.3537T>A (p.Gly1179=) c.3168T>A (p.Gly1056=) | ClinVar dbSNP |
| 5 | g.112839611T>C | CA445964041 | APC | c.3682T>C (n.3682T>C) c.4071T>C (p.Gly1357=) c.*4023T>C (n.*4023T>C) c.3963T>C (p.Gly1321=) c.4017T>C (p.Gly1339=) c.2370T>C c.*3339T>C (n.*3339T>C) c.230+10639T>C c.4047T>C (p.Gly1349=) c.3942T>C (p.Gly1314=) c.3933T>C (p.Gly1311=) c.3894T>C (p.Gly1298=) c.3840T>C (p.Gly1280=) c.3744T>C (p.Gly1248=) c.3714T>C (p.Gly1238=) c.3639T>C (p.Gly1213=) c.3537T>C (p.Gly1179=) c.3168T>C (p.Gly1056=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112839611T>G | CA445964042 | APC | c.3682T>G (n.3682T>G) c.4071T>G (p.Gly1357=) c.*4023T>G (n.*4023T>G) c.3963T>G (p.Gly1321=) c.4017T>G (p.Gly1339=) c.2370T>G c.*3339T>G (n.*3339T>G) c.230+10639T>G c.4047T>G (p.Gly1349=) c.3942T>G (p.Gly1314=) c.3933T>G (p.Gly1311=) c.3894T>G (p.Gly1298=) c.3840T>G (p.Gly1280=) c.3744T>G (p.Gly1248=) c.3714T>G (p.Gly1238=) c.3639T>G (p.Gly1213=) c.3537T>G (p.Gly1179=) c.3168T>G (p.Gly1056=) | dbSNP |
| 5 | g.112839611T= | CA1573491649 | APC | c.3682T= (n.3682T=) c.4071T= (p.Gly1357=) c.*4023T= (n.*4023T=) c.3963T= (p.Gly1321=) c.4017T= (p.Gly1339=) c.2370T= c.*3339T= (n.*3339T=) c.230+10639T= c.4047T= (p.Gly1349=) c.3942T= (p.Gly1314=) c.3933T= (p.Gly1311=) c.3894T= (p.Gly1298=) c.3840T= (p.Gly1280=) c.3744T= (p.Gly1248=) c.3714T= (p.Gly1238=) c.3639T= (p.Gly1213=) c.3537T= (p.Gly1179=) c.3168T= (p.Gly1056=) | |
| 5 | g.112839612_112839614dup | CA349476 | APC | c.3683_3685dup (n.3683_3685dup) c.4072_4074dup (p.Ser1358_Ser1359insSer) c.*4024_*4026dup (n.*4024_*4026dup) c.3964_3966dup (p.Ser1322_Ser1323insSer) c.4018_4020dup (p.Ser1340_Ser1341insSer) c.2371_2373dup c.*3340_*3342dup (n.*3340_*3342dup) c.230+10640_230+10642dup c.4048_4050dup (p.Ser1350_Ser1351insSer) c.3943_3945dup (p.Ser1315_Ser1316insSer) c.3934_3936dup (p.Ser1312_Ser1313insSer) c.3895_3897dup (p.Ser1299_Ser1300insSer) c.3841_3843dup (p.Ser1281_Ser1282insSer) c.3745_3747dup (p.Ser1249_Ser1250insSer) c.3715_3717dup (p.Ser1239_Ser1240insSer) c.3640_3642dup (p.Ser1214_Ser1215insSer) c.3538_3540dup (p.Ser1180_Ser1181insSer) c.3169_3171dup (p.Ser1057_Ser1058insSer) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112839612T>A | CA16030137 | APC | c.3683T>A (n.3683T>A) c.4072T>A (p.Ser1358Thr) c.*4024T>A (n.*4024T>A) c.3964T>A (p.Ser1322Thr) c.4018T>A (p.Ser1340Thr) c.2371T>A c.*3340T>A (n.*3340T>A) c.230+10640T>A c.4048T>A (p.Ser1350Thr) c.3943T>A (p.Ser1315Thr) c.3934T>A (p.Ser1312Thr) c.3895T>A (p.Ser1299Thr) c.3841T>A (p.Ser1281Thr) c.3745T>A (p.Ser1249Thr) c.3715T>A (p.Ser1239Thr) c.3640T>A (p.Ser1214Thr) c.3538T>A (p.Ser1180Thr) c.3169T>A (p.Ser1057Thr) | dbSNP |
| 5 | g.112839612T>C | CA16030138 | APC | c.3683T>C (n.3683T>C) c.4072T>C (p.Ser1358Pro) c.*4024T>C (n.*4024T>C) c.3964T>C (p.Ser1322Pro) c.4018T>C (p.Ser1340Pro) c.2371T>C c.*3340T>C (n.*3340T>C) c.230+10640T>C c.4048T>C (p.Ser1350Pro) c.3943T>C (p.Ser1315Pro) c.3934T>C (p.Ser1312Pro) c.3895T>C (p.Ser1299Pro) c.3841T>C (p.Ser1281Pro) c.3745T>C (p.Ser1249Pro) c.3715T>C (p.Ser1239Pro) c.3640T>C (p.Ser1214Pro) c.3538T>C (p.Ser1180Pro) c.3169T>C (p.Ser1057Pro) | dbSNP |
| 5 | g.112839612T>G | CA16030139 | APC | c.3683T>G (n.3683T>G) c.4072T>G (p.Ser1358Ala) c.*4024T>G (n.*4024T>G) c.3964T>G (p.Ser1322Ala) c.4018T>G (p.Ser1340Ala) c.2371T>G c.*3340T>G (n.*3340T>G) c.230+10640T>G c.4048T>G (p.Ser1350Ala) c.3943T>G (p.Ser1315Ala) c.3934T>G (p.Ser1312Ala) c.3895T>G (p.Ser1299Ala) c.3841T>G (p.Ser1281Ala) c.3745T>G (p.Ser1249Ala) c.3715T>G (p.Ser1239Ala) c.3640T>G (p.Ser1214Ala) c.3538T>G (p.Ser1180Ala) c.3169T>G (p.Ser1057Ala) | dbSNP |
| 5 | g.112839613_112839614dup | CA2739273273 | APC | c.3684_3685dup (n.3684_3685dup) c.4073_4074dup (p.Ser1359LeufsTer?) c.*4025_*4026dup (n.*4025_*4026dup) c.3965_3966dup (p.Ser1323LeufsTer?) c.4019_4020dup (p.Ser1341LeufsTer?) c.2372_2373dup c.*3341_*3342dup (n.*3341_*3342dup) c.230+10641_230+10642dup c.4049_4050dup (p.Ser1351LeufsTer?) c.3944_3945dup (p.Ser1316LeufsTer?) c.3935_3936dup (p.Ser1313LeufsTer?) c.3896_3897dup (p.Ser1300LeufsTer?) c.3842_3843dup (p.Ser1282LeufsTer?) c.3746_3747dup (p.Ser1250LeufsTer?) c.3716_3717dup (p.Ser1240LeufsTer?) c.3641_3642dup (p.Ser1215LeufsTer?) c.3539_3540dup (p.Ser1181LeufsTer?) c.3170_3171dup (p.Ser1058LeufsTer?) | ClinVar |
| 5 | g.112839613del | CA2695205239 | APC | c.3684del (n.3684del) c.4073del (p.Ser1358LeufsTer?) c.*4025del (n.*4025del) c.3965del (p.Ser1322LeufsTer?) c.4019del (p.Ser1340LeufsTer?) c.2372del c.*3341del (n.*3341del) c.230+10641del c.4049del (p.Ser1350LeufsTer?) c.3944del (p.Ser1315LeufsTer?) c.3935del (p.Ser1312LeufsTer?) c.3896del (p.Ser1299LeufsTer?) c.3842del (p.Ser1281LeufsTer?) c.3746del (p.Ser1249LeufsTer?) c.3716del (p.Ser1239LeufsTer?) c.3641del (p.Ser1214LeufsTer?) c.3539del (p.Ser1180LeufsTer?) c.3170del (p.Ser1057LeufsTer?) | |
| 5 | g.112839613C>A | CA16030140 | APC | c.3684C>A (n.3684C>A) c.4073C>A (p.Ser1358Tyr) c.*4025C>A (n.*4025C>A) c.3965C>A (p.Ser1322Tyr) c.4019C>A (p.Ser1340Tyr) c.2372C>A c.*3341C>A (n.*3341C>A) c.230+10641C>A c.4049C>A (p.Ser1350Tyr) c.3944C>A (p.Ser1315Tyr) c.3935C>A (p.Ser1312Tyr) c.3896C>A (p.Ser1299Tyr) c.3842C>A (p.Ser1281Tyr) c.3746C>A (p.Ser1249Tyr) c.3716C>A (p.Ser1239Tyr) c.3641C>A (p.Ser1214Tyr) c.3539C>A (p.Ser1180Tyr) c.3170C>A (p.Ser1057Tyr) | ClinVar dbSNP |
| 5 | g.112839613C= | CA1573491654 | APC | c.3684C= (n.3684C=) c.4073C= (p.Ser1358=) c.*4025C= (n.*4025C=) c.3965C= (p.Ser1322=) c.4019C= (p.Ser1340=) c.2372C= c.*3341C= (n.*3341C=) c.230+10641C= c.4049C= (p.Ser1350=) c.3944C= (p.Ser1315=) c.3935C= (p.Ser1312=) c.3896C= (p.Ser1299=) c.3842C= (p.Ser1281=) c.3746C= (p.Ser1249=) c.3716C= (p.Ser1239=) c.3641C= (p.Ser1214=) c.3539C= (p.Ser1180=) c.3170C= (p.Ser1057=) | |
| 5 | g.112839613C>G | CA16030141 | APC | c.3684C>G (n.3684C>G) c.4073C>G (p.Ser1358Cys) c.*4025C>G (n.*4025C>G) c.3965C>G (p.Ser1322Cys) c.4019C>G (p.Ser1340Cys) c.2372C>G c.*3341C>G (n.*3341C>G) c.230+10641C>G c.4049C>G (p.Ser1350Cys) c.3944C>G (p.Ser1315Cys) c.3935C>G (p.Ser1312Cys) c.3896C>G (p.Ser1299Cys) c.3842C>G (p.Ser1281Cys) c.3746C>G (p.Ser1249Cys) c.3716C>G (p.Ser1239Cys) c.3641C>G (p.Ser1214Cys) c.3539C>G (p.Ser1180Cys) c.3170C>G (p.Ser1057Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.112839613C>T | CA16030142 | APC | c.3684C>T (n.3684C>T) c.4073C>T (p.Ser1358Phe) c.*4025C>T (n.*4025C>T) c.3965C>T (p.Ser1322Phe) c.4019C>T (p.Ser1340Phe) c.2372C>T c.*3341C>T (n.*3341C>T) c.230+10641C>T c.4049C>T (p.Ser1350Phe) c.3944C>T (p.Ser1315Phe) c.3935C>T (p.Ser1312Phe) c.3896C>T (p.Ser1299Phe) c.3842C>T (p.Ser1281Phe) c.3746C>T (p.Ser1249Phe) c.3716C>T (p.Ser1239Phe) c.3641C>T (p.Ser1214Phe) c.3539C>T (p.Ser1180Phe) c.3170C>T (p.Ser1057Phe) | ClinVar dbSNP |
| 5 | g.112839614T>A | CA445964044 | APC | c.3685T>A (n.3685T>A) c.4074T>A (p.Ser1358=) c.*4026T>A (n.*4026T>A) c.3966T>A (p.Ser1322=) c.4020T>A (p.Ser1340=) c.2373T>A c.*3342T>A (n.*3342T>A) c.230+10642T>A c.4050T>A (p.Ser1350=) c.3945T>A (p.Ser1315=) c.3936T>A (p.Ser1312=) c.3897T>A (p.Ser1299=) c.3843T>A (p.Ser1281=) c.3747T>A (p.Ser1249=) c.3717T>A (p.Ser1239=) c.3642T>A (p.Ser1214=) c.3540T>A (p.Ser1180=) c.3171T>A (p.Ser1057=) | dbSNP |
| 5 | g.112839614T>C | CA037394 | APC | c.3685T>C (n.3685T>C) c.4074T>C (p.Ser1358=) c.*4026T>C (n.*4026T>C) c.3966T>C (p.Ser1322=) c.4020T>C (p.Ser1340=) c.2373T>C c.*3342T>C (n.*3342T>C) c.230+10642T>C c.4050T>C (p.Ser1350=) c.3945T>C (p.Ser1315=) c.3936T>C (p.Ser1312=) c.3897T>C (p.Ser1299=) c.3843T>C (p.Ser1281=) c.3747T>C (p.Ser1249=) c.3717T>C (p.Ser1239=) c.3642T>C (p.Ser1214=) c.3540T>C (p.Ser1180=) c.3171T>C (p.Ser1057=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.112839614T>G | CA445964043 | APC | c.3685T>G (n.3685T>G) c.4074T>G (p.Ser1358=) c.*4026T>G (n.*4026T>G) c.3966T>G (p.Ser1322=) c.4020T>G (p.Ser1340=) c.2373T>G c.*3342T>G (n.*3342T>G) c.230+10642T>G c.4050T>G (p.Ser1350=) c.3945T>G (p.Ser1315=) c.3936T>G (p.Ser1312=) c.3897T>G (p.Ser1299=) c.3843T>G (p.Ser1281=) c.3747T>G (p.Ser1249=) c.3717T>G (p.Ser1239=) c.3642T>G (p.Ser1214=) c.3540T>G (p.Ser1180=) c.3171T>G (p.Ser1057=) | gnomAD v4 |
| 5 | g.112839614T= | CA1573491657 | APC | c.3685T= (n.3685T=) c.4074T= (p.Ser1358=) c.*4026T= (n.*4026T=) c.3966T= (p.Ser1322=) c.4020T= (p.Ser1340=) c.2373T= c.*3342T= (n.*3342T=) c.230+10642T= c.4050T= (p.Ser1350=) c.3945T= (p.Ser1315=) c.3936T= (p.Ser1312=) c.3897T= (p.Ser1299=) c.3843T= (p.Ser1281=) c.3747T= (p.Ser1249=) c.3717T= (p.Ser1239=) c.3642T= (p.Ser1214=) c.3540T= (p.Ser1180=) c.3171T= (p.Ser1057=) | |
| 5 | g.112839616_112839620del | CA2499217483 | APC | c.3687_3691del (n.3687_3691del) c.4076_4080del (p.Ser1359IlefsTer11) c.*4028_*4032del (n.*4028_*4032del) c.3968_3972del (p.Ser1323IlefsTer11) c.4022_4026del (p.Ser1341IlefsTer11) c.2375_2379del c.*3344_*3348del (n.*3344_*3348del) c.230+10644_230+10648del c.4052_4056del (p.Ser1351IlefsTer11) c.3947_3951del (p.Ser1316IlefsTer11) c.3938_3942del (p.Ser1313IlefsTer11) c.3899_3903del (p.Ser1300IlefsTer11) c.3845_3849del (p.Ser1282IlefsTer11) c.3749_3753del (p.Ser1250IlefsTer11) c.3719_3723del (p.Ser1240IlefsTer11) c.3644_3648del (p.Ser1215IlefsTer11) c.3542_3546del (p.Ser1181IlefsTer11) c.3173_3177del (p.Ser1058IlefsTer11) | ClinVar dbSNP |
| 5 | g.112839615del | CA2582341547 | APC | c.3686del (n.3686del) c.4075del (p.Ser1359ValfsTer?) c.*4027del (n.*4027del) c.3967del (p.Ser1323ValfsTer?) c.4021del (p.Ser1341ValfsTer?) c.2374del c.*3343del (n.*3343del) c.230+10643del c.4051del (p.Ser1351ValfsTer?) c.3946del (p.Ser1316ValfsTer?) c.3937del (p.Ser1313ValfsTer?) c.3898del (p.Ser1300ValfsTer?) c.3844del (p.Ser1282ValfsTer?) c.3748del (p.Ser1250ValfsTer?) c.3718del (p.Ser1240ValfsTer?) c.3643del (p.Ser1215ValfsTer?) c.3541del (p.Ser1181ValfsTer?) c.3172del (p.Ser1058ValfsTer?) | ClinVar |
| 5 | g.112839615A= | CA1573491660 | APC | c.3686A= (n.3686A=) c.4075A= (p.Ser1359=) c.*4027A= (n.*4027A=) c.3967A= (p.Ser1323=) c.4021A= (p.Ser1341=) c.2374A= c.*3343A= (n.*3343A=) c.230+10643A= c.4051A= (p.Ser1351=) c.3946A= (p.Ser1316=) c.3937A= (p.Ser1313=) c.3898A= (p.Ser1300=) c.3844A= (p.Ser1282=) c.3748A= (p.Ser1250=) c.3718A= (p.Ser1240=) c.3643A= (p.Ser1215=) c.3541A= (p.Ser1181=) c.3172A= (p.Ser1058=) |