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.112839496_112839506del | CA645543637 | APC | c.3567_3577del (n.3567_3577del) c.3956_3966del (p.Thr1319SerfsTer10) c.*3908_*3918del (n.*3908_*3918del) c.3848_3858del (p.Thr1283SerfsTer10) c.3902_3912del (p.Thr1301SerfsTer10) c.2255_2265del c.*3224_*3234del (n.*3224_*3234del) c.3902_3912del (p.Thr1301SerfsTer?) c.230+10524_230+10534del c.3932_3942del (p.Thr1311SerfsTer10) c.3827_3837del (p.Thr1276SerfsTer10) c.3818_3828del (p.Thr1273SerfsTer10) c.3779_3789del (p.Thr1260SerfsTer10) c.3725_3735del (p.Thr1242SerfsTer10) c.3629_3639del (p.Thr1210SerfsTer10) c.3599_3609del (p.Thr1200SerfsTer10) c.3524_3534del (p.Thr1175SerfsTer10) c.3422_3432del (p.Thr1141SerfsTer10) c.3053_3063del (p.Thr1018SerfsTer10) | COSMIC |
| 5 | g.112839505_112839506del | CA645543646 | APC | c.3576_3577del (n.3576_3577del) c.3965_3966del (p.Ile1322SerfsTer10) c.*3917_*3918del (n.*3917_*3918del) c.3857_3858del (p.Ile1286SerfsTer10) c.3911_3912del (p.Ile1304SerfsTer10) c.2264_2265del c.*3233_*3234del (n.*3233_*3234del) c.3911_3912del (p.Ile1304SerfsTer?) c.230+10533_230+10534del c.3941_3942del (p.Ile1314SerfsTer10) c.3836_3837del (p.Ile1279SerfsTer10) c.3827_3828del (p.Ile1276SerfsTer10) c.3788_3789del (p.Ile1263SerfsTer10) c.3734_3735del (p.Ile1245SerfsTer10) c.3638_3639del (p.Ile1213SerfsTer10) c.3608_3609del (p.Ile1203SerfsTer10) c.3533_3534del (p.Ile1178SerfsTer10) c.3431_3432del (p.Ile1144SerfsTer10) c.3062_3063del (p.Ile1021SerfsTer10) | COSMIC |
| 5 | g.112839505_112839508delinsTAGC | CA1573491125 | APC | c.3576_3579delinsTAGC (n.3576_3579delinsTAGC) c.3965_3968delinsTAGC (p.Ile1322=) c.*3917_*3920delinsTAGC (n.*3917_*3920delinsTAGC) c.3857_3860delinsTAGC (p.Ile1286=) c.3911_3914delinsTAGC (p.Ile1304=) c.2264_2267delinsTAGC c.*3233_*3236delinsTAGC (n.*3233_*3236delinsTAGC) c.230+10533_230+10536delinsTAGC c.3941_3944delinsTAGC (p.Ile1314=) c.3836_3839delinsTAGC (p.Ile1279=) c.3827_3830delinsTAGC (p.Ile1276=) c.3788_3791delinsTAGC (p.Ile1263=) c.3734_3737delinsTAGC (p.Ile1245=) c.3638_3641delinsTAGC (p.Ile1213=) c.3608_3611delinsTAGC (p.Ile1203=) c.3533_3536delinsTAGC (p.Ile1178=) c.3431_3434delinsTAGC (p.Ile1144=) c.3062_3065delinsTAGC (p.Ile1021=) | |
| 5 | g.112839506del | CA445963866 | APC | c.3577del (n.3577del) c.3966del (p.Ile1322MetfsTer4) c.*3918del (n.*3918del) c.3858del (p.Ile1286MetfsTer4) c.3912del (p.Ile1304MetfsTer4) c.2265del c.*3234del (n.*3234del) c.3912del (p.Ile1304MetfsTer?) c.230+10534del c.3942del (p.Ile1314MetfsTer4) c.3837del (p.Ile1279MetfsTer4) c.3828del (p.Ile1276MetfsTer4) c.3789del (p.Ile1263MetfsTer4) c.3735del (p.Ile1245MetfsTer4) c.3639del (p.Ile1213MetfsTer4) c.3609del (p.Ile1203MetfsTer4) c.3534del (p.Ile1178MetfsTer4) c.3432del (p.Ile1144MetfsTer4) c.3063del (p.Ile1021MetfsTer4) | COSMIC |
| 5 | g.112839506A= | CA1573491134 | APC | c.3577A= (n.3577A=) c.3966A= (p.Ile1322=) c.*3918A= (n.*3918A=) c.3858A= (p.Ile1286=) c.3912A= (p.Ile1304=) c.2265A= c.*3234A= (n.*3234A=) c.230+10534A= c.3942A= (p.Ile1314=) c.3837A= (p.Ile1279=) c.3828A= (p.Ile1276=) c.3789A= (p.Ile1263=) c.3735A= (p.Ile1245=) c.3639A= (p.Ile1213=) c.3609A= (p.Ile1203=) c.3534A= (p.Ile1178=) c.3432A= (p.Ile1144=) c.3063A= (p.Ile1021=) | |
| 5 | g.112839506A>C | CA445963864 | APC | c.3577A>C (n.3577A>C) c.3966A>C (p.Ile1322=) c.*3918A>C (n.*3918A>C) c.3858A>C (p.Ile1286=) c.3912A>C (p.Ile1304=) c.2265A>C c.*3234A>C (n.*3234A>C) c.230+10534A>C c.3942A>C (p.Ile1314=) c.3837A>C (p.Ile1279=) c.3828A>C (p.Ile1276=) c.3789A>C (p.Ile1263=) c.3735A>C (p.Ile1245=) c.3639A>C (p.Ile1213=) c.3609A>C (p.Ile1203=) c.3534A>C (p.Ile1178=) c.3432A>C (p.Ile1144=) c.3063A>C (p.Ile1021=) | ClinVar |
| 5 | g.112839506A>G | CA16029916 | APC | c.3577A>G (n.3577A>G) c.3966A>G (p.Ile1322Met) c.*3918A>G (n.*3918A>G) c.3858A>G (p.Ile1286Met) c.3912A>G (p.Ile1304Met) c.2265A>G c.*3234A>G (n.*3234A>G) c.230+10534A>G c.3942A>G (p.Ile1314Met) c.3837A>G (p.Ile1279Met) c.3828A>G (p.Ile1276Met) c.3789A>G (p.Ile1263Met) c.3735A>G (p.Ile1245Met) c.3639A>G (p.Ile1213Met) c.3609A>G (p.Ile1203Met) c.3534A>G (p.Ile1178Met) c.3432A>G (p.Ile1144Met) c.3063A>G (p.Ile1021Met) | ClinVar dbSNP |
| 5 | g.112839506A>T | CA445963865 | APC | c.3577A>T (n.3577A>T) c.3966A>T (p.Ile1322=) c.*3918A>T (n.*3918A>T) c.3858A>T (p.Ile1286=) c.3912A>T (p.Ile1304=) c.2265A>T c.*3234A>T (n.*3234A>T) c.230+10534A>T c.3942A>T (p.Ile1314=) c.3837A>T (p.Ile1279=) c.3828A>T (p.Ile1276=) c.3789A>T (p.Ile1263=) c.3735A>T (p.Ile1245=) c.3639A>T (p.Ile1213=) c.3609A>T (p.Ile1203=) c.3534A>T (p.Ile1178=) c.3432A>T (p.Ile1144=) c.3063A>T (p.Ile1021=) | dbSNP |
| 5 | g.112839508_112839510del | CA037003 | APC | c.3579_3581del (n.3579_3581del) c.3968_3970del (p.Ala1323del) c.*3920_*3922del (n.*3920_*3922del) c.3860_3862del (p.Ala1287del) c.3914_3916del (p.Ala1305del) c.2267_2269del c.*3236_*3238del (n.*3236_*3238del) c.230+10536_230+10538del c.3944_3946del (p.Ala1315del) c.3839_3841del (p.Ala1280del) c.3830_3832del (p.Ala1277del) c.3791_3793del (p.Ala1264del) c.3737_3739del (p.Ala1246del) c.3641_3643del (p.Ala1214del) c.3611_3613del (p.Ala1204del) c.3536_3538del (p.Ala1179del) c.3434_3436del (p.Ala1145del) c.3065_3067del (p.Ala1022del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.112839507G>A | CA16029917 | APC | c.3578G>A (n.3578G>A) c.3967G>A (p.Ala1323Thr) c.*3919G>A (n.*3919G>A) c.3859G>A (p.Ala1287Thr) c.3913G>A (p.Ala1305Thr) c.2266G>A c.*3235G>A (n.*3235G>A) c.3913G>A c.230+10535G>A c.3943G>A (p.Ala1315Thr) c.3838G>A (p.Ala1280Thr) c.3829G>A (p.Ala1277Thr) c.3790G>A (p.Ala1264Thr) c.3736G>A (p.Ala1246Thr) c.3640G>A (p.Ala1214Thr) c.3610G>A (p.Ala1204Thr) c.3535G>A (p.Ala1179Thr) c.3433G>A (p.Ala1145Thr) c.3064G>A (p.Ala1022Thr) | ClinVar dbSNP |
| 5 | g.112839507G>C | CA16029918 | APC | c.3578G>C (n.3578G>C) c.3967G>C (p.Ala1323Pro) c.*3919G>C (n.*3919G>C) c.3859G>C (p.Ala1287Pro) c.3913G>C (p.Ala1305Pro) c.2266G>C c.*3235G>C (n.*3235G>C) c.3913G>C c.230+10535G>C c.3943G>C (p.Ala1315Pro) c.3838G>C (p.Ala1280Pro) c.3829G>C (p.Ala1277Pro) c.3790G>C (p.Ala1264Pro) c.3736G>C (p.Ala1246Pro) c.3640G>C (p.Ala1214Pro) c.3610G>C (p.Ala1204Pro) c.3535G>C (p.Ala1179Pro) c.3433G>C (p.Ala1145Pro) c.3064G>C (p.Ala1022Pro) | dbSNP |
| 5 | g.112839507G= | CA1573491142 | APC | c.3578G= (n.3578G=) c.3967G= (p.Ala1323=) c.*3919G= (n.*3919G=) c.3859G= (p.Ala1287=) c.3913G= (p.Ala1305=) c.2266G= c.*3235G= (n.*3235G=) c.3913G= c.230+10535G= c.3943G= (p.Ala1315=) c.3838G= (p.Ala1280=) c.3829G= (p.Ala1277=) c.3790G= (p.Ala1264=) c.3736G= (p.Ala1246=) c.3640G= (p.Ala1214=) c.3610G= (p.Ala1204=) c.3535G= (p.Ala1179=) c.3433G= (p.Ala1145=) c.3064G= (p.Ala1022=) | |
| 5 | g.112839507G>T | CA16029919 | APC | c.3578G>T (n.3578G>T) c.3967G>T (p.Ala1323Ser) c.*3919G>T (n.*3919G>T) c.3859G>T (p.Ala1287Ser) c.3913G>T (p.Ala1305Ser) c.2266G>T c.*3235G>T (n.*3235G>T) c.3913G>T c.230+10535G>T c.3943G>T (p.Ala1315Ser) c.3838G>T (p.Ala1280Ser) c.3829G>T (p.Ala1277Ser) c.3790G>T (p.Ala1264Ser) c.3736G>T (p.Ala1246Ser) c.3640G>T (p.Ala1214Ser) c.3610G>T (p.Ala1204Ser) c.3535G>T (p.Ala1179Ser) c.3433G>T (p.Ala1145Ser) c.3064G>T (p.Ala1022Ser) | |
| 5 | g.112839508del | CA445963869 | APC | c.3579del (n.3579del) c.3968del (p.Ala1323GlufsTer3) c.*3920del (n.*3920del) c.3860del (p.Ala1287GlufsTer3) c.3914del (p.Ala1305GlufsTer3) c.2267del c.*3236del (n.*3236del) c.3914del c.230+10536del c.3944del (p.Ala1315GlufsTer3) c.3839del (p.Ala1280GlufsTer3) c.3830del (p.Ala1277GlufsTer3) c.3791del (p.Ala1264GlufsTer3) c.3737del (p.Ala1246GlufsTer3) c.3641del (p.Ala1214GlufsTer3) c.3611del (p.Ala1204GlufsTer3) c.3536del (p.Ala1179GlufsTer3) c.3434del (p.Ala1145GlufsTer3) c.3065del (p.Ala1022GlufsTer3) | COSMIC |
| 5 | g.112839508C>A | CA16029920 | APC | c.3579C>A (n.3579C>A) c.3968C>A (p.Ala1323Glu) c.*3920C>A (n.*3920C>A) c.3860C>A (p.Ala1287Glu) c.3914C>A (p.Ala1305Glu) c.2267C>A c.*3236C>A (n.*3236C>A) c.3914C>A c.230+10536C>A c.3944C>A (p.Ala1315Glu) c.3839C>A (p.Ala1280Glu) c.3830C>A (p.Ala1277Glu) c.3791C>A (p.Ala1264Glu) c.3737C>A (p.Ala1246Glu) c.3641C>A (p.Ala1214Glu) c.3611C>A (p.Ala1204Glu) c.3536C>A (p.Ala1179Glu) c.3434C>A (p.Ala1145Glu) c.3065C>A (p.Ala1022Glu) | dbSNP COSMIC |
| 5 | g.112839508C= | CA1573491151 | APC | c.3579C= (n.3579C=) c.3968C= (p.Ala1323=) c.*3920C= (n.*3920C=) c.3860C= (p.Ala1287=) c.3914C= (p.Ala1305=) c.2267C= c.*3236C= (n.*3236C=) c.3914C= c.230+10536C= c.3944C= (p.Ala1315=) c.3839C= (p.Ala1280=) c.3830C= (p.Ala1277=) c.3791C= (p.Ala1264=) c.3737C= (p.Ala1246=) c.3641C= (p.Ala1214=) c.3611C= (p.Ala1204=) c.3536C= (p.Ala1179=) c.3434C= (p.Ala1145=) c.3065C= (p.Ala1022=) | |
| 5 | g.112839508C>G | CA16029921 | APC | c.3579C>G (n.3579C>G) c.3968C>G (p.Ala1323Gly) c.*3920C>G (n.*3920C>G) c.3860C>G (p.Ala1287Gly) c.3914C>G (p.Ala1305Gly) c.2267C>G c.*3236C>G (n.*3236C>G) c.3914C>G c.230+10536C>G c.3944C>G (p.Ala1315Gly) c.3839C>G (p.Ala1280Gly) c.3830C>G (p.Ala1277Gly) c.3791C>G (p.Ala1264Gly) c.3737C>G (p.Ala1246Gly) c.3641C>G (p.Ala1214Gly) c.3611C>G (p.Ala1204Gly) c.3536C>G (p.Ala1179Gly) c.3434C>G (p.Ala1145Gly) c.3065C>G (p.Ala1022Gly) | ClinVar dbSNP COSMIC |
| 5 | g.112839508C>T | CA16029922 | APC | c.3579C>T (n.3579C>T) c.3968C>T (p.Ala1323Val) c.*3920C>T (n.*3920C>T) c.3860C>T (p.Ala1287Val) c.3914C>T (p.Ala1305Val) c.2267C>T c.*3236C>T (n.*3236C>T) c.3914C>T c.230+10536C>T c.3944C>T (p.Ala1315Val) c.3839C>T (p.Ala1280Val) c.3830C>T (p.Ala1277Val) c.3791C>T (p.Ala1264Val) c.3737C>T (p.Ala1246Val) c.3641C>T (p.Ala1214Val) c.3611C>T (p.Ala1204Val) c.3536C>T (p.Ala1179Val) c.3434C>T (p.Ala1145Val) c.3065C>T (p.Ala1022Val) | ClinVar dbSNP |
| 5 | g.112839509del | CA445963874 | APC | c.3580del (n.3580del) c.3969del (p.Glu1324LysfsTer2) c.*3921del (n.*3921del) c.3861del (p.Glu1288LysfsTer2) c.3915del (p.Glu1306LysfsTer2) c.2268del c.*3237del (n.*3237del) c.230+10537del c.3945del (p.Glu1316LysfsTer2) c.3840del (p.Glu1281LysfsTer2) c.3831del (p.Glu1278LysfsTer2) c.3792del (p.Glu1265LysfsTer2) c.3738del (p.Glu1247LysfsTer2) c.3642del (p.Glu1215LysfsTer2) c.3612del (p.Glu1205LysfsTer2) c.3537del (p.Glu1180LysfsTer2) c.3435del (p.Glu1146LysfsTer2) c.3066del (p.Glu1023LysfsTer2) | COSMIC |
| 5 | g.112839509A>C | CA445963870 | APC | c.3580A>C (n.3580A>C) c.3969A>C (p.Ala1323=) c.*3921A>C (n.*3921A>C) c.3861A>C (p.Ala1287=) c.3915A>C (p.Ala1305=) c.2268A>C c.*3237A>C (n.*3237A>C) c.230+10537A>C c.3945A>C (p.Ala1315=) c.3840A>C (p.Ala1280=) c.3831A>C (p.Ala1277=) c.3792A>C (p.Ala1264=) c.3738A>C (p.Ala1246=) c.3642A>C (p.Ala1214=) c.3612A>C (p.Ala1204=) c.3537A>C (p.Ala1179=) c.3435A>C (p.Ala1145=) c.3066A>C (p.Ala1022=) | dbSNP |
| 5 | g.112839509A>G | CA445963871 | APC | c.3580A>G (n.3580A>G) c.3969A>G (p.Ala1323=) c.*3921A>G (n.*3921A>G) c.3861A>G (p.Ala1287=) c.3915A>G (p.Ala1305=) c.2268A>G c.*3237A>G (n.*3237A>G) c.230+10537A>G c.3945A>G (p.Ala1315=) c.3840A>G (p.Ala1280=) c.3831A>G (p.Ala1277=) c.3792A>G (p.Ala1264=) c.3738A>G (p.Ala1246=) c.3642A>G (p.Ala1214=) c.3612A>G (p.Ala1204=) c.3537A>G (p.Ala1179=) c.3435A>G (p.Ala1145=) c.3066A>G (p.Ala1022=) | ClinVar dbSNP |
| 5 | g.112839509A>T | CA445963873 | APC | c.3580A>T (n.3580A>T) c.3969A>T (p.Ala1323=) c.*3921A>T (n.*3921A>T) c.3861A>T (p.Ala1287=) c.3915A>T (p.Ala1305=) c.2268A>T c.*3237A>T (n.*3237A>T) c.230+10537A>T c.3945A>T (p.Ala1315=) c.3840A>T (p.Ala1280=) c.3831A>T (p.Ala1277=) c.3792A>T (p.Ala1264=) c.3738A>T (p.Ala1246=) c.3642A>T (p.Ala1214=) c.3612A>T (p.Ala1204=) c.3537A>T (p.Ala1179=) c.3435A>T (p.Ala1145=) c.3066A>T (p.Ala1022=) | dbSNP |
| 5 | g.112839510_112839511del | CA645543647 | APC | c.3581_3582del (n.3581_3582del) c.3970_3971del (p.Glu1324AsnfsTer8) c.*3922_*3923del (n.*3922_*3923del) c.3862_3863del (p.Glu1288AsnfsTer8) c.3916_3917del (p.Glu1306AsnfsTer8) c.2269_2270del c.*3238_*3239del (n.*3238_*3239del) c.230+10538_230+10539del c.3946_3947del (p.Glu1316AsnfsTer8) c.3841_3842del (p.Glu1281AsnfsTer8) c.3832_3833del (p.Glu1278AsnfsTer8) c.3793_3794del (p.Glu1265AsnfsTer8) c.3739_3740del (p.Glu1247AsnfsTer8) c.3643_3644del (p.Glu1215AsnfsTer8) c.3613_3614del (p.Glu1205AsnfsTer8) c.3538_3539del (p.Glu1180AsnfsTer8) c.3436_3437del (p.Glu1146AsnfsTer8) c.3067_3068del (p.Glu1023AsnfsTer8) | COSMIC |
| 5 | g.112839510G>A | CA16029923 | APC | c.3581G>A (n.3581G>A) c.3970G>A (p.Glu1324Lys) c.*3922G>A (n.*3922G>A) c.3862G>A (p.Glu1288Lys) c.3916G>A (p.Glu1306Lys) c.2269G>A c.*3238G>A (n.*3238G>A) c.230+10538G>A c.3946G>A (p.Glu1316Lys) c.3841G>A (p.Glu1281Lys) c.3832G>A (p.Glu1278Lys) c.3793G>A (p.Glu1265Lys) c.3739G>A (p.Glu1247Lys) c.3643G>A (p.Glu1215Lys) c.3613G>A (p.Glu1205Lys) c.3538G>A (p.Glu1180Lys) c.3436G>A (p.Glu1146Lys) c.3067G>A (p.Glu1023Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.112839510G>C | CA16029924 | APC | c.3581G>C (n.3581G>C) c.3970G>C (p.Glu1324Gln) c.*3922G>C (n.*3922G>C) c.3862G>C (p.Glu1288Gln) c.3916G>C (p.Glu1306Gln) c.2269G>C c.*3238G>C (n.*3238G>C) c.230+10538G>C c.3946G>C (p.Glu1316Gln) c.3841G>C (p.Glu1281Gln) c.3832G>C (p.Glu1278Gln) c.3793G>C (p.Glu1265Gln) c.3739G>C (p.Glu1247Gln) c.3643G>C (p.Glu1215Gln) c.3613G>C (p.Glu1205Gln) c.3538G>C (p.Glu1180Gln) c.3436G>C (p.Glu1146Gln) c.3067G>C (p.Glu1023Gln) | |
| 5 | g.112839510G= | CA1573491161 | APC | c.3581G= (n.3581G=) c.3970G= (p.Glu1324=) c.*3922G= (n.*3922G=) c.3862G= (p.Glu1288=) c.3916G= (p.Glu1306=) c.2269G= c.*3238G= (n.*3238G=) c.230+10538G= c.3946G= (p.Glu1316=) c.3841G= (p.Glu1281=) c.3832G= (p.Glu1278=) c.3793G= (p.Glu1265=) c.3739G= (p.Glu1247=) c.3643G= (p.Glu1215=) c.3613G= (p.Glu1205=) c.3538G= (p.Glu1180=) c.3436G= (p.Glu1146=) c.3067G= (p.Glu1023=) | |
| 5 | g.112839510G>T | CA16029925 | APC | c.3581G>T (n.3581G>T) c.3970G>T (p.Glu1324Ter) c.*3922G>T (n.*3922G>T) c.3862G>T (p.Glu1288Ter) c.3916G>T (p.Glu1306Ter) c.2269G>T c.*3238G>T (n.*3238G>T) c.230+10538G>T c.3946G>T (p.Glu1316Ter) c.3841G>T (p.Glu1281Ter) c.3832G>T (p.Glu1278Ter) c.3793G>T (p.Glu1265Ter) c.3739G>T (p.Glu1247Ter) c.3643G>T (p.Glu1215Ter) c.3613G>T (p.Glu1205Ter) c.3538G>T (p.Glu1180Ter) c.3436G>T (p.Glu1146Ter) c.3067G>T (p.Glu1023Ter) | ClinVar dbSNP COSMIC |
| 5 | g.112839510_112839514delinsGAAAT | CA1573491169 | APC | c.3581_3585delinsGAAAT (n.3581_3585delinsGAAAT) c.3970_3974delinsGAAAT (p.Glu1324=) c.*3922_*3926delinsGAAAT (n.*3922_*3926delinsGAAAT) c.3862_3866delinsGAAAT (p.Glu1288=) c.3916_3920delinsGAAAT (p.Glu1306=) c.2269_2273delinsGAAAT c.*3238_*3242delinsGAAAT (n.*3238_*3242delinsGAAAT) c.230+10538_230+10542delinsGAAAT c.3946_3950delinsGAAAT (p.Glu1316=) c.3841_3845delinsGAAAT (p.Glu1281=) c.3832_3836delinsGAAAT (p.Glu1278=) c.3793_3797delinsGAAAT (p.Glu1265=) c.3739_3743delinsGAAAT (p.Glu1247=) c.3643_3647delinsGAAAT (p.Glu1215=) c.3613_3617delinsGAAAT (p.Glu1205=) c.3538_3542delinsGAAAT (p.Glu1180=) c.3436_3440delinsGAAAT (p.Glu1146=) c.3067_3071delinsGAAAT (p.Glu1023=) | |
| 5 | g.112839510_112839515delinsGAAATA | CA1573491165 | APC | c.3581_3586delinsGAAATA (n.3581_3586delinsGAAATA) c.3970_3975delinsGAAATA (p.Glu1324=) c.*3922_*3927delinsGAAATA (n.*3922_*3927delinsGAAATA) c.3862_3867delinsGAAATA (p.Glu1288=) c.3916_3921delinsGAAATA (p.Glu1306=) c.2269_2274delinsGAAATA c.*3238_*3243delinsGAAATA (n.*3238_*3243delinsGAAATA) c.230+10538_230+10543delinsGAAATA c.3946_3951delinsGAAATA (p.Glu1316=) c.3841_3846delinsGAAATA (p.Glu1281=) c.3832_3837delinsGAAATA (p.Glu1278=) c.3793_3798delinsGAAATA (p.Glu1265=) c.3739_3744delinsGAAATA (p.Glu1247=) c.3643_3648delinsGAAATA (p.Glu1215=) c.3613_3618delinsGAAATA (p.Glu1205=) c.3538_3543delinsGAAATA (p.Glu1180=) c.3436_3441delinsGAAATA (p.Glu1146=) c.3067_3072delinsGAAATA (p.Glu1023=) | |
| 5 | g.112839511A= | CA1573491186 | APC | c.3582A= (n.3582A=) c.3971A= (p.Glu1324=) c.*3923A= (n.*3923A=) c.3863A= (p.Glu1288=) c.3917A= (p.Glu1306=) c.2270A= c.*3239A= (n.*3239A=) c.230+10539A= c.3947A= (p.Glu1316=) c.3842A= (p.Glu1281=) c.3833A= (p.Glu1278=) c.3794A= (p.Glu1265=) c.3740A= (p.Glu1247=) c.3644A= (p.Glu1215=) c.3614A= (p.Glu1205=) c.3539A= (p.Glu1180=) c.3437A= (p.Glu1146=) c.3068A= (p.Glu1023=) | |
| 5 | g.112839511A>C | CA16029926 | APC | c.3582A>C (n.3582A>C) c.3971A>C (p.Glu1324Ala) c.*3923A>C (n.*3923A>C) c.3863A>C (p.Glu1288Ala) c.3917A>C (p.Glu1306Ala) c.2270A>C c.*3239A>C (n.*3239A>C) c.230+10539A>C c.3947A>C (p.Glu1316Ala) c.3842A>C (p.Glu1281Ala) c.3833A>C (p.Glu1278Ala) c.3794A>C (p.Glu1265Ala) c.3740A>C (p.Glu1247Ala) c.3644A>C (p.Glu1215Ala) c.3614A>C (p.Glu1205Ala) c.3539A>C (p.Glu1180Ala) c.3437A>C (p.Glu1146Ala) c.3068A>C (p.Glu1023Ala) | |
| 5 | g.112839511A>G | CA16029927 | APC | c.3582A>G (n.3582A>G) c.3971A>G (p.Glu1324Gly) c.*3923A>G (n.*3923A>G) c.3863A>G (p.Glu1288Gly) c.3917A>G (p.Glu1306Gly) c.2270A>G c.*3239A>G (n.*3239A>G) c.230+10539A>G c.3947A>G (p.Glu1316Gly) c.3842A>G (p.Glu1281Gly) c.3833A>G (p.Glu1278Gly) c.3794A>G (p.Glu1265Gly) c.3740A>G (p.Glu1247Gly) c.3644A>G (p.Glu1215Gly) c.3614A>G (p.Glu1205Gly) c.3539A>G (p.Glu1180Gly) c.3437A>G (p.Glu1146Gly) c.3068A>G (p.Glu1023Gly) | ClinVar dbSNP |
| 5 | g.112839511A>T | CA16029928 | APC | c.3582A>T (n.3582A>T) c.3971A>T (p.Glu1324Val) c.*3923A>T (n.*3923A>T) c.3863A>T (p.Glu1288Val) c.3917A>T (p.Glu1306Val) c.2270A>T c.*3239A>T (n.*3239A>T) c.230+10539A>T c.3947A>T (p.Glu1316Val) c.3842A>T (p.Glu1281Val) c.3833A>T (p.Glu1278Val) c.3794A>T (p.Glu1265Val) c.3740A>T (p.Glu1247Val) c.3644A>T (p.Glu1215Val) c.3614A>T (p.Glu1205Val) c.3539A>T (p.Glu1180Val) c.3437A>T (p.Glu1146Val) c.3068A>T (p.Glu1023Val) | dbSNP |
| 5 | g.112839513dup | CA645543648 | APC | c.3584dup (n.3584dup) c.3973dup (p.Ile1325AsnfsTer8) c.*3925dup (n.*3925dup) c.3865dup (p.Ile1289AsnfsTer8) c.3919dup (p.Ile1307AsnfsTer8) c.2272dup c.*3241dup (n.*3241dup) c.230+10541dup c.3949dup (p.Ile1317AsnfsTer8) c.3844dup (p.Ile1282AsnfsTer8) c.3835dup (p.Ile1279AsnfsTer8) c.3796dup (p.Ile1266AsnfsTer8) c.3742dup (p.Ile1248AsnfsTer8) c.3646dup (p.Ile1216AsnfsTer8) c.3616dup (p.Ile1206AsnfsTer8) c.3541dup (p.Ile1181AsnfsTer8) c.3439dup (p.Ile1147AsnfsTer8) c.3070dup (p.Ile1024AsnfsTer8) | COSMIC COSMIC |
| 5 | g.112839513del | CA445963876 | APC | c.3584del (n.3584del) c.3973del (p.Ile1325Ter) c.*3925del (n.*3925del) c.3865del (p.Ile1289Ter) c.3919del (p.Ile1307Ter) c.2272del c.*3241del (n.*3241del) c.230+10541del c.3949del (p.Ile1317Ter) c.3844del (p.Ile1282Ter) c.3835del (p.Ile1279Ter) c.3796del (p.Ile1266Ter) c.3742del (p.Ile1248Ter) c.3646del (p.Ile1216Ter) c.3616del (p.Ile1206Ter) c.3541del (p.Ile1181Ter) c.3439del (p.Ile1147Ter) c.3070del (p.Ile1024Ter) | COSMIC |
| 5 | g.112839514_112839517del | CA658760609 | APC | c.3585_3588del (n.3585_3588del) c.3974_3977del (p.Ile1325LysfsTer13) c.*3926_*3929del (n.*3926_*3929del) c.3866_3869del (p.Ile1289LysfsTer13) c.3920_3923del (p.Ile1307LysfsTer13) c.2273_2276del c.*3242_*3245del (n.*3242_*3245del) c.230+10542_230+10545del c.3950_3953del (p.Ile1317LysfsTer13) c.3845_3848del (p.Ile1282LysfsTer13) c.3836_3839del (p.Ile1279LysfsTer13) c.3797_3800del (p.Ile1266LysfsTer13) c.3743_3746del (p.Ile1248LysfsTer13) c.3647_3650del (p.Ile1216LysfsTer13) c.3617_3620del (p.Ile1206LysfsTer13) c.3542_3545del (p.Ile1181LysfsTer13) c.3440_3443del (p.Ile1147LysfsTer13) c.3071_3074del (p.Ile1024LysfsTer13) | ClinVar dbSNP |
| 5 | g.112839514_112839518del | CA16618084 | APC | c.3585_3589del (n.3585_3589del) c.3974_3978del (p.Ile1325ArgfsTer6) c.*3926_*3930del (n.*3926_*3930del) c.3866_3870del (p.Ile1289ArgfsTer6) c.3920_3924del (p.Ile1307ArgfsTer6) c.2273_2277del c.*3242_*3246del (n.*3242_*3246del) c.230+10542_230+10546del c.3950_3954del (p.Ile1317ArgfsTer6) c.3845_3849del (p.Ile1282ArgfsTer6) c.3836_3840del (p.Ile1279ArgfsTer6) c.3797_3801del (p.Ile1266ArgfsTer6) c.3743_3747del (p.Ile1248ArgfsTer6) c.3647_3651del (p.Ile1216ArgfsTer6) c.3617_3621del (p.Ile1206ArgfsTer6) c.3542_3546del (p.Ile1181ArgfsTer6) c.3440_3444del (p.Ile1147ArgfsTer6) c.3071_3075del (p.Ile1024ArgfsTer6) | ClinVar dbSNP COSMIC COSMIC |
| 5 | g.112839512A>C | CA16029929 | APC | c.3583A>C (n.3583A>C) c.3972A>C (p.Glu1324Asp) c.*3924A>C (n.*3924A>C) c.3864A>C (p.Glu1288Asp) c.3918A>C (p.Glu1306Asp) c.2271A>C c.*3240A>C (n.*3240A>C) c.230+10540A>C c.3948A>C (p.Glu1316Asp) c.3843A>C (p.Glu1281Asp) c.3834A>C (p.Glu1278Asp) c.3795A>C (p.Glu1265Asp) c.3741A>C (p.Glu1247Asp) c.3645A>C (p.Glu1215Asp) c.3615A>C (p.Glu1205Asp) c.3540A>C (p.Glu1180Asp) c.3438A>C (p.Glu1146Asp) c.3069A>C (p.Glu1023Asp) | |
| 5 | g.112839512A>G | CA445963877 | APC | c.3583A>G (n.3583A>G) c.3972A>G (p.Glu1324=) c.*3924A>G (n.*3924A>G) c.3864A>G (p.Glu1288=) c.3918A>G (p.Glu1306=) c.2271A>G c.*3240A>G (n.*3240A>G) c.230+10540A>G c.3948A>G (p.Glu1316=) c.3843A>G (p.Glu1281=) c.3834A>G (p.Glu1278=) c.3795A>G (p.Glu1265=) c.3741A>G (p.Glu1247=) c.3645A>G (p.Glu1215=) c.3615A>G (p.Glu1205=) c.3540A>G (p.Glu1180=) c.3438A>G (p.Glu1146=) c.3069A>G (p.Glu1023=) | |
| 5 | g.112839512A>T | CA16029930 | APC | c.3583A>T (n.3583A>T) c.3972A>T (p.Glu1324Asp) c.*3924A>T (n.*3924A>T) c.3864A>T (p.Glu1288Asp) c.3918A>T (p.Glu1306Asp) c.2271A>T c.*3240A>T (n.*3240A>T) c.230+10540A>T c.3948A>T (p.Glu1316Asp) c.3843A>T (p.Glu1281Asp) c.3834A>T (p.Glu1278Asp) c.3795A>T (p.Glu1265Asp) c.3741A>T (p.Glu1247Asp) c.3645A>T (p.Glu1215Asp) c.3615A>T (p.Glu1205Asp) c.3540A>T (p.Glu1180Asp) c.3438A>T (p.Glu1146Asp) c.3069A>T (p.Glu1023Asp) | dbSNP |
| 5 | g.112839513A>C | CA16029931 | APC | c.3584A>C (n.3584A>C) c.3973A>C (p.Ile1325Leu) c.*3925A>C (n.*3925A>C) c.3865A>C (p.Ile1289Leu) c.3919A>C (p.Ile1307Leu) c.2272A>C c.*3241A>C (n.*3241A>C) c.230+10541A>C c.3949A>C (p.Ile1317Leu) c.3844A>C (p.Ile1282Leu) c.3835A>C (p.Ile1279Leu) c.3796A>C (p.Ile1266Leu) c.3742A>C (p.Ile1248Leu) c.3646A>C (p.Ile1216Leu) c.3616A>C (p.Ile1206Leu) c.3541A>C (p.Ile1181Leu) c.3439A>C (p.Ile1147Leu) c.3070A>C (p.Ile1024Leu) | |
| 5 | g.112839513A>G | CA16029932 | APC | c.3584A>G (n.3584A>G) c.3973A>G (p.Ile1325Val) c.*3925A>G (n.*3925A>G) c.3865A>G (p.Ile1289Val) c.3919A>G (p.Ile1307Val) c.2272A>G c.*3241A>G (n.*3241A>G) c.230+10541A>G c.3949A>G (p.Ile1317Val) c.3844A>G (p.Ile1282Val) c.3835A>G (p.Ile1279Val) c.3796A>G (p.Ile1266Val) c.3742A>G (p.Ile1248Val) c.3646A>G (p.Ile1216Val) c.3616A>G (p.Ile1206Val) c.3541A>G (p.Ile1181Val) c.3439A>G (p.Ile1147Val) c.3070A>G (p.Ile1024Val) | |
| 5 | g.112839513A>T | CA16029933 | APC | c.3584A>T (n.3584A>T) c.3973A>T (p.Ile1325Leu) c.*3925A>T (n.*3925A>T) c.3865A>T (p.Ile1289Leu) c.3919A>T (p.Ile1307Leu) c.2272A>T c.*3241A>T (n.*3241A>T) c.230+10541A>T c.3949A>T (p.Ile1317Leu) c.3844A>T (p.Ile1282Leu) c.3835A>T (p.Ile1279Leu) c.3796A>T (p.Ile1266Leu) c.3742A>T (p.Ile1248Leu) c.3646A>T (p.Ile1216Leu) c.3616A>T (p.Ile1206Leu) c.3541A>T (p.Ile1181Leu) c.3439A>T (p.Ile1147Leu) c.3070A>T (p.Ile1024Leu) | dbSNP |
| 5 | g.112839513_112839515delinsTT | CA645543649 | APC | c.3584_3586delinsTT (n.3584_3586delinsTT) c.3973_3975delinsTT (p.Ile1325LeufsTer14) c.*3925_*3927delinsTT (n.*3925_*3927delinsTT) c.3865_3867delinsTT (p.Ile1289LeufsTer14) c.3919_3921delinsTT (p.Ile1307LeufsTer14) c.2272_2274delinsTT c.*3241_*3243delinsTT (n.*3241_*3243delinsTT) c.230+10541_230+10543delinsTT c.3949_3951delinsTT (p.Ile1317LeufsTer14) c.3844_3846delinsTT (p.Ile1282LeufsTer14) c.3835_3837delinsTT (p.Ile1279LeufsTer14) c.3796_3798delinsTT (p.Ile1266LeufsTer14) c.3742_3744delinsTT (p.Ile1248LeufsTer14) c.3646_3648delinsTT (p.Ile1216LeufsTer14) c.3616_3618delinsTT (p.Ile1206LeufsTer14) c.3541_3543delinsTT (p.Ile1181LeufsTer14) c.3439_3441delinsTT (p.Ile1147LeufsTer14) c.3070_3072delinsTT (p.Ile1024LeufsTer14) | COSMIC |
| 5 | g.112839514_112839515del | CA645543650 | APC | c.3585_3586del (n.3585_3586del) c.3974_3975del (p.Ile1325LysfsTer7) c.*3926_*3927del (n.*3926_*3927del) c.3866_3867del (p.Ile1289LysfsTer7) c.3920_3921del (p.Ile1307LysfsTer7) c.2273_2274del c.*3242_*3243del (n.*3242_*3243del) c.230+10542_230+10543del c.3950_3951del (p.Ile1317LysfsTer7) c.3845_3846del (p.Ile1282LysfsTer7) c.3836_3837del (p.Ile1279LysfsTer7) c.3797_3798del (p.Ile1266LysfsTer7) c.3743_3744del (p.Ile1248LysfsTer7) c.3647_3648del (p.Ile1216LysfsTer7) c.3617_3618del (p.Ile1206LysfsTer7) c.3542_3543del (p.Ile1181LysfsTer7) c.3440_3441del (p.Ile1147LysfsTer7) c.3071_3072del (p.Ile1024LysfsTer7) | ClinVar COSMIC |
| 5 | g.112839514del | CA445963879 | APC | c.3585del (n.3585del) c.3974del (p.Ile1325LysfsTer14) c.*3926del (n.*3926del) c.3866del (p.Ile1289LysfsTer14) c.3920del (p.Ile1307LysfsTer14) c.2273del c.*3242del (n.*3242del) c.230+10542del c.3950del (p.Ile1317LysfsTer14) c.3845del (p.Ile1282LysfsTer14) c.3836del (p.Ile1279LysfsTer14) c.3797del (p.Ile1266LysfsTer14) c.3743del (p.Ile1248LysfsTer14) c.3647del (p.Ile1216LysfsTer14) c.3617del (p.Ile1206LysfsTer14) c.3542del (p.Ile1181LysfsTer14) c.3440del (p.Ile1147LysfsTer14) c.3071del (p.Ile1024LysfsTer14) | COSMIC |
| 5 | g.112839514T>A | CA008761 | APC | c.3585T>A (n.3585T>A) c.3974T>A (p.Ile1325Lys) c.*3926T>A (n.*3926T>A) c.3866T>A (p.Ile1289Lys) c.3920T>A (p.Ile1307Lys) c.2273T>A c.*3242T>A (n.*3242T>A) c.230+10542T>A c.3950T>A (p.Ile1317Lys) c.3845T>A (p.Ile1282Lys) c.3836T>A (p.Ile1279Lys) c.3797T>A (p.Ile1266Lys) c.3743T>A (p.Ile1248Lys) c.3647T>A (p.Ile1216Lys) c.3617T>A (p.Ile1206Lys) c.3542T>A (p.Ile1181Lys) c.3440T>A (p.Ile1147Lys) c.3071T>A (p.Ile1024Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.112839514T>C | CA16029934 | APC | c.3585T>C (n.3585T>C) c.3974T>C (p.Ile1325Thr) c.*3926T>C (n.*3926T>C) c.3866T>C (p.Ile1289Thr) c.3920T>C (p.Ile1307Thr) c.2273T>C c.*3242T>C (n.*3242T>C) c.230+10542T>C c.3950T>C (p.Ile1317Thr) c.3845T>C (p.Ile1282Thr) c.3836T>C (p.Ile1279Thr) c.3797T>C (p.Ile1266Thr) c.3743T>C (p.Ile1248Thr) c.3647T>C (p.Ile1216Thr) c.3617T>C (p.Ile1206Thr) c.3542T>C (p.Ile1181Thr) c.3440T>C (p.Ile1147Thr) c.3071T>C (p.Ile1024Thr) | gnomAD v4 |
| 5 | g.112839514T>G | CA16029935 | APC | c.3585T>G (n.3585T>G) c.3974T>G (p.Ile1325Arg) c.*3926T>G (n.*3926T>G) c.3866T>G (p.Ile1289Arg) c.3920T>G (p.Ile1307Arg) c.2273T>G c.*3242T>G (n.*3242T>G) c.230+10542T>G c.3950T>G (p.Ile1317Arg) c.3845T>G (p.Ile1282Arg) c.3836T>G (p.Ile1279Arg) c.3797T>G (p.Ile1266Arg) c.3743T>G (p.Ile1248Arg) c.3647T>G (p.Ile1216Arg) c.3617T>G (p.Ile1206Arg) c.3542T>G (p.Ile1181Arg) c.3440T>G (p.Ile1147Arg) c.3071T>G (p.Ile1024Arg) | ClinVar |