| 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.112839985_112840294delinsCACCTACTGCTGAAA | CA658760717 | APC | c.4445_4754delinsCACCTACTGCTGAAA (p.Glu1482AlafsTer14) c.*4397_*4706delinsCACCTACTGCTGAAA (n.*4397_*4706delinsCACCTACTGCTGAAA) c.4337_4646delinsCACCTACTGCTGAAA (p.Glu1446AlafsTer14) c.4391_4700delinsCACCTACTGCTGAAA (p.Glu1464AlafsTer14) c.*3713_*4022delinsCACCTACTGCTGAAA (n.*3713_*4022delinsCACCTACTGCTGAAA) c.230+11013_230+11322delinsCACCTACTGCTGAAA c.4421_4730delinsCACCTACTGCTGAAA (p.Glu1474AlafsTer14) c.4316_4625delinsCACCTACTGCTGAAA (p.Glu1439AlafsTer14) c.4307_4616delinsCACCTACTGCTGAAA (p.Glu1436AlafsTer14) c.4268_4577delinsCACCTACTGCTGAAA (p.Glu1423AlafsTer14) c.4214_4523delinsCACCTACTGCTGAAA (p.Glu1405AlafsTer14) c.4118_4427delinsCACCTACTGCTGAAA (p.Glu1373AlafsTer14) c.4088_4397delinsCACCTACTGCTGAAA (p.Glu1363AlafsTer14) c.4013_4322delinsCACCTACTGCTGAAA (p.Glu1338AlafsTer14) c.3911_4220delinsCACCTACTGCTGAAA (p.Glu1304AlafsTer14) c.3542_3851delinsCACCTACTGCTGAAA (p.Glu1181AlafsTer14) | |
| 5 | g.112840073_112840862del | CA2499217486 | APC | c.4533_5322del (p.Glu1512LeufsTer9) c.*4485_*5274del (n.*4485_*5274del) c.4425_5214del (p.Glu1476LeufsTer9) c.4479_5268del (p.Glu1494LeufsTer9) c.*3801_*4590del (n.*3801_*4590del) c.230+11101_230+11890del c.4509_5298del (p.Glu1504LeufsTer9) c.4404_5193del (p.Glu1469LeufsTer9) c.4395_5184del (p.Glu1466LeufsTer9) c.4356_5145del (p.Glu1453LeufsTer9) c.4302_5091del (p.Glu1435LeufsTer9) c.4206_4995del (p.Glu1403LeufsTer9) c.4176_4965del (p.Glu1393LeufsTer9) c.4101_4890del (p.Glu1368LeufsTer9) c.3999_4788del (p.Glu1334LeufsTer9) c.3630_4419del (p.Glu1211LeufsTer9) | ClinVar dbSNP |
| 5 | g.112840128_112843000del | CA2582341313 | APC | c.4588_7460del (p.Asp1530Ter) c.*4540_*7412del (n.*4540_*7412del) c.4480_7352del (p.Asp1494Ter) c.4534_7406del (p.Asp1512Ter) c.230+11156_231-13649del c.4564_7436del (p.Asp1522Ter) c.4459_7331del (p.Asp1487Ter) c.4450_7322del (p.Asp1484Ter) c.4411_7283del (p.Asp1471Ter) c.4357_7229del (p.Asp1453Ter) c.4261_7133del (p.Asp1421Ter) c.4231_7103del (p.Asp1411Ter) c.4156_7028del (p.Asp1386Ter) c.4054_6926del (p.Asp1352Ter) c.3685_6557del (p.Asp1229Ter) | |
| 5 | g.112840256_112840265del | CA2582341335 | APC | c.4716_4725del (p.Lys1573IlefsTer7) c.*4668_*4677del (n.*4668_*4677del) c.4608_4617del (p.Lys1537IlefsTer7) c.4662_4671del (p.Lys1555IlefsTer7) c.*3984_*3993del (n.*3984_*3993del) c.230+11284_230+11293del c.4692_4701del (p.Lys1565IlefsTer7) c.4587_4596del (p.Lys1530IlefsTer7) c.4578_4587del (p.Lys1527IlefsTer7) c.4539_4548del (p.Lys1514IlefsTer7) c.4485_4494del (p.Lys1496IlefsTer7) c.4389_4398del (p.Lys1464IlefsTer7) c.4359_4368del (p.Lys1454IlefsTer7) c.4284_4293del (p.Lys1429IlefsTer7) c.4182_4191del (p.Lys1395IlefsTer7) c.3813_3822del (p.Lys1272IlefsTer7) | |
| 5 | g.112840261_112840263delinsCTA | CA1573470638 | APC | c.4721_4723delinsCTA (p.Thr1574=) c.*4673_*4675delinsCTA (n.*4673_*4675delinsCTA) c.4613_4615delinsCTA (p.Thr1538=) c.4667_4669delinsCTA (p.Thr1556=) c.*3989_*3991delinsCTA (n.*3989_*3991delinsCTA) c.230+11289_230+11291delinsCTA c.4697_4699delinsCTA (p.Thr1566=) c.4592_4594delinsCTA (p.Thr1531=) c.4583_4585delinsCTA (p.Thr1528=) c.4544_4546delinsCTA (p.Thr1515=) c.4490_4492delinsCTA (p.Thr1497=) c.4394_4396delinsCTA (p.Thr1465=) c.4364_4366delinsCTA (p.Thr1455=) c.4289_4291delinsCTA (p.Thr1430=) c.4187_4189delinsCTA (p.Thr1396=) c.3818_3820delinsCTA (p.Thr1273=) | |
| 5 | g.112840263_112840264del | CA009682 | APC | c.4723_4724del (p.Ile1575Ter) c.*4675_*4676del (n.*4675_*4676del) c.4615_4616del (p.Ile1539Ter) c.4669_4670del (p.Ile1557Ter) c.*3991_*3992del (n.*3991_*3992del) c.230+11291_230+11292del c.4699_4700del (p.Ile1567Ter) c.4594_4595del (p.Ile1532Ter) c.4585_4586del (p.Ile1529Ter) c.4546_4547del (p.Ile1516Ter) c.4492_4493del (p.Ile1498Ter) c.4396_4397del (p.Ile1466Ter) c.4366_4367del (p.Ile1456Ter) c.4291_4292del (p.Ile1431Ter) c.4189_4190del (p.Ile1397Ter) c.3820_3821del (p.Ile1274Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.112840262_112840270delinsTATTGATTC | CA1573470665 | APC | c.4722_4730delinsTATTGATTC (p.Thr1574=) c.*4674_*4682delinsTATTGATTC (n.*4674_*4682delinsTATTGATTC) c.4614_4622delinsTATTGATTC (p.Thr1538=) c.4668_4676delinsTATTGATTC (p.Thr1556=) c.*3990_*3998delinsTATTGATTC (n.*3990_*3998delinsTATTGATTC) c.230+11290_230+11298delinsTATTGATTC c.4698_4706delinsTATTGATTC (p.Thr1566=) c.4593_4601delinsTATTGATTC (p.Thr1531=) c.4584_4592delinsTATTGATTC (p.Thr1528=) c.4545_4553delinsTATTGATTC (p.Thr1515=) c.4491_4499delinsTATTGATTC (p.Thr1497=) c.4395_4403delinsTATTGATTC (p.Thr1465=) c.4365_4373delinsTATTGATTC (p.Thr1455=) c.4290_4298delinsTATTGATTC (p.Thr1430=) c.4188_4196delinsTATTGATTC (p.Thr1396=) c.3819_3827delinsTATTGATTC (p.Thr1273=) | |
| 5 | g.112840263A= | CA1573470692 | APC | c.4723A= (p.Ile1575=) c.*4675A= (n.*4675A=) c.4615A= (p.Ile1539=) c.4669A= (p.Ile1557=) c.*3991A= (n.*3991A=) c.230+11291A= c.4699A= (p.Ile1567=) c.4594A= (p.Ile1532=) c.4585A= (p.Ile1529=) c.4546A= (p.Ile1516=) c.4492A= (p.Ile1498=) c.4396A= (p.Ile1466=) c.4366A= (p.Ile1456=) c.4291A= (p.Ile1431=) c.4189A= (p.Ile1397=) c.3820A= (p.Ile1274=) | |
| 5 | g.112840263A>C | CA16031566 | APC | c.4723A>C (p.Ile1575Leu) c.*4675A>C (n.*4675A>C) c.4615A>C (p.Ile1539Leu) c.4669A>C (p.Ile1557Leu) c.*3991A>C (n.*3991A>C) c.230+11291A>C c.4699A>C (p.Ile1567Leu) c.4594A>C (p.Ile1532Leu) c.4585A>C (p.Ile1529Leu) c.4546A>C (p.Ile1516Leu) c.4492A>C (p.Ile1498Leu) c.4396A>C (p.Ile1466Leu) c.4366A>C (p.Ile1456Leu) c.4291A>C (p.Ile1431Leu) c.4189A>C (p.Ile1397Leu) c.3820A>C (p.Ile1274Leu) | ClinVar |
| 5 | g.112840263A>G | CA039538 | APC | c.4723A>G (p.Ile1575Val) c.*4675A>G (n.*4675A>G) c.4615A>G (p.Ile1539Val) c.4669A>G (p.Ile1557Val) c.*3991A>G (n.*3991A>G) c.230+11291A>G c.4699A>G (p.Ile1567Val) c.4594A>G (p.Ile1532Val) c.4585A>G (p.Ile1529Val) c.4546A>G (p.Ile1516Val) c.4492A>G (p.Ile1498Val) c.4396A>G (p.Ile1466Val) c.4366A>G (p.Ile1456Val) c.4291A>G (p.Ile1431Val) c.4189A>G (p.Ile1397Val) c.3820A>G (p.Ile1274Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.112840263A>T | CA16031567 | APC | c.4723A>T (p.Ile1575Phe) c.*4675A>T (n.*4675A>T) c.4615A>T (p.Ile1539Phe) c.4669A>T (p.Ile1557Phe) c.*3991A>T (n.*3991A>T) c.230+11291A>T c.4699A>T (p.Ile1567Phe) c.4594A>T (p.Ile1532Phe) c.4585A>T (p.Ile1529Phe) c.4546A>T (p.Ile1516Phe) c.4492A>T (p.Ile1498Phe) c.4396A>T (p.Ile1466Phe) c.4366A>T (p.Ile1456Phe) c.4291A>T (p.Ile1431Phe) c.4189A>T (p.Ile1397Phe) c.3820A>T (p.Ile1274Phe) | ClinVar dbSNP |
| 5 | g.112840263dup | CA446206660 | APC | c.4723dup (p.Ile1575AsnfsTer2) c.*4675dup (n.*4675dup) c.4615dup (p.Ile1539AsnfsTer2) c.4669dup (p.Ile1557AsnfsTer2) c.*3991dup (n.*3991dup) c.230+11291dup c.4699dup (p.Ile1567AsnfsTer2) c.4594dup (p.Ile1532AsnfsTer2) c.4585dup (p.Ile1529AsnfsTer2) c.4546dup (p.Ile1516AsnfsTer2) c.4492dup (p.Ile1498AsnfsTer2) c.4396dup (p.Ile1466AsnfsTer2) c.4366dup (p.Ile1456AsnfsTer2) c.4291dup (p.Ile1431AsnfsTer2) c.4189dup (p.Ile1397AsnfsTer2) c.3820dup (p.Ile1274AsnfsTer2) | COSMIC |
| 5 | g.112840263_112840264delinsAT | CA1573470694 | APC | c.4723_4724delinsAT (p.Ile1575=) c.*4675_*4676delinsAT (n.*4675_*4676delinsAT) c.4615_4616delinsAT (p.Ile1539=) c.4669_4670delinsAT (p.Ile1557=) c.*3991_*3992delinsAT (n.*3991_*3992delinsAT) c.230+11291_230+11292delinsAT c.4699_4700delinsAT (p.Ile1567=) c.4594_4595delinsAT (p.Ile1532=) c.4585_4586delinsAT (p.Ile1529=) c.4546_4547delinsAT (p.Ile1516=) c.4492_4493delinsAT (p.Ile1498=) c.4396_4397delinsAT (p.Ile1466=) c.4366_4367delinsAT (p.Ile1456=) c.4291_4292delinsAT (p.Ile1431=) c.4189_4190delinsAT (p.Ile1397=) c.3820_3821delinsAT (p.Ile1274=) | |
| 5 | g.112840263_112840265delinsATT | CA1573470693 | APC | c.4723_4725delinsATT (p.Ile1575=) c.*4675_*4677delinsATT (n.*4675_*4677delinsATT) c.4615_4617delinsATT (p.Ile1539=) c.4669_4671delinsATT (p.Ile1557=) c.*3991_*3993delinsATT (n.*3991_*3993delinsATT) c.230+11291_230+11293delinsATT c.4699_4701delinsATT (p.Ile1567=) c.4594_4596delinsATT (p.Ile1532=) c.4585_4587delinsATT (p.Ile1529=) c.4546_4548delinsATT (p.Ile1516=) c.4492_4494delinsATT (p.Ile1498=) c.4396_4398delinsATT (p.Ile1466=) c.4366_4368delinsATT (p.Ile1456=) c.4291_4293delinsATT (p.Ile1431=) c.4189_4191delinsATT (p.Ile1397=) c.3820_3822delinsATT (p.Ile1274=) | |
| 5 | g.112840263_112840270del | CA16602715 | APC | c.4723_4730del (p.Ile1575Ter) c.*4675_*4682del (n.*4675_*4682del) c.4615_4622del (p.Ile1539Ter) c.4669_4676del (p.Ile1557Ter) c.*3991_*3998del (n.*3991_*3998del) c.230+11291_230+11298del c.4699_4706del (p.Ile1567Ter) c.4594_4601del (p.Ile1532Ter) c.4585_4592del (p.Ile1529Ter) c.4546_4553del (p.Ile1516Ter) c.4492_4499del (p.Ile1498Ter) c.4396_4403del (p.Ile1466Ter) c.4366_4373del (p.Ile1456Ter) c.4291_4298del (p.Ile1431Ter) c.4189_4196del (p.Ile1397Ter) c.3820_3827del (p.Ile1274Ter) | ClinVar dbSNP |
| 5 | g.112840264T>A | CA16031568 | APC | c.4724T>A (p.Ile1575Asn) c.*4676T>A (n.*4676T>A) c.4616T>A (p.Ile1539Asn) c.4670T>A (p.Ile1557Asn) c.*3992T>A (n.*3992T>A) c.230+11292T>A c.4700T>A (p.Ile1567Asn) c.4595T>A (p.Ile1532Asn) c.4586T>A (p.Ile1529Asn) c.4547T>A (p.Ile1516Asn) c.4493T>A (p.Ile1498Asn) c.4397T>A (p.Ile1466Asn) c.4367T>A (p.Ile1456Asn) c.4292T>A (p.Ile1431Asn) c.4190T>A (p.Ile1397Asn) c.3821T>A (p.Ile1274Asn) | ClinVar dbSNP |
| 5 | g.112840264T>C | CA039552 | APC | c.4724T>C (p.Ile1575Thr) c.*4676T>C (n.*4676T>C) c.4616T>C (p.Ile1539Thr) c.4670T>C (p.Ile1557Thr) c.*3992T>C (n.*3992T>C) c.230+11292T>C c.4700T>C (p.Ile1567Thr) c.4595T>C (p.Ile1532Thr) c.4586T>C (p.Ile1529Thr) c.4547T>C (p.Ile1516Thr) c.4493T>C (p.Ile1498Thr) c.4397T>C (p.Ile1466Thr) c.4367T>C (p.Ile1456Thr) c.4292T>C (p.Ile1431Thr) c.4190T>C (p.Ile1397Thr) c.3821T>C (p.Ile1274Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.112840264T>G | CA16031569 | APC | c.4724T>G (p.Ile1575Ser) c.*4676T>G (n.*4676T>G) c.4616T>G (p.Ile1539Ser) c.4670T>G (p.Ile1557Ser) c.*3992T>G (n.*3992T>G) c.230+11292T>G c.4700T>G (p.Ile1567Ser) c.4595T>G (p.Ile1532Ser) c.4586T>G (p.Ile1529Ser) c.4547T>G (p.Ile1516Ser) c.4493T>G (p.Ile1498Ser) c.4397T>G (p.Ile1466Ser) c.4367T>G (p.Ile1456Ser) c.4292T>G (p.Ile1431Ser) c.4190T>G (p.Ile1397Ser) c.3821T>G (p.Ile1274Ser) | ClinVar dbSNP |
| 5 | g.112840264T= | CA1573470729 | APC | c.4724T= (p.Ile1575=) c.*4676T= (n.*4676T=) c.4616T= (p.Ile1539=) c.4670T= (p.Ile1557=) c.*3992T= (n.*3992T=) c.230+11292T= c.4700T= (p.Ile1567=) c.4595T= (p.Ile1532=) c.4586T= (p.Ile1529=) c.4547T= (p.Ile1516=) c.4493T= (p.Ile1498=) c.4397T= (p.Ile1466=) c.4367T= (p.Ile1456=) c.4292T= (p.Ile1431=) c.4190T= (p.Ile1397=) c.3821T= (p.Ile1274=) | |
| 5 | g.112840264_112840265del | CA891843023 | APC | c.4724_4725del (p.Ile1575ArgfsTer3) c.*4676_*4677del (n.*4676_*4677del) c.4616_4617del (p.Ile1539ArgfsTer3) c.4670_4671del (p.Ile1557ArgfsTer3) c.*3992_*3993del (n.*3992_*3993del) c.230+11292_230+11293del c.4700_4701del (p.Ile1567ArgfsTer3) c.4595_4596del (p.Ile1532ArgfsTer3) c.4586_4587del (p.Ile1529ArgfsTer3) c.4547_4548del (p.Ile1516ArgfsTer3) c.4493_4494del (p.Ile1498ArgfsTer3) c.4397_4398del (p.Ile1466ArgfsTer3) c.4367_4368del (p.Ile1456ArgfsTer3) c.4292_4293del (p.Ile1431ArgfsTer3) c.4190_4191del (p.Ile1397ArgfsTer3) c.3821_3822del (p.Ile1274ArgfsTer3) | ClinVar dbSNP |
| 5 | g.112840265dup | CA645543971 | APC | c.4725dup (p.Asp1576Ter) c.*4677dup (n.*4677dup) c.4617dup (p.Asp1540Ter) c.4671dup (p.Asp1558Ter) c.*3993dup (n.*3993dup) c.230+11293dup c.4701dup (p.Asp1568Ter) c.4596dup (p.Asp1533Ter) c.4587dup (p.Asp1530Ter) c.4548dup (p.Asp1517Ter) c.4494dup (p.Asp1499Ter) c.4398dup (p.Asp1467Ter) c.4368dup (p.Asp1457Ter) c.4293dup (p.Asp1432Ter) c.4191dup (p.Asp1398Ter) c.3822dup (p.Asp1275Ter) | dbSNP COSMIC |
| 5 | g.112840265del | CA645372797 | APC | c.4725del (p.Ile1575MetfsTer8) c.*4677del (n.*4677del) c.4617del (p.Ile1539MetfsTer8) c.4671del (p.Ile1557MetfsTer8) c.*3993del (n.*3993del) c.230+11293del c.4701del (p.Ile1567MetfsTer8) c.4596del (p.Ile1532MetfsTer8) c.4587del (p.Ile1529MetfsTer8) c.4548del (p.Ile1516MetfsTer8) c.4494del (p.Ile1498MetfsTer8) c.4398del (p.Ile1466MetfsTer8) c.4368del (p.Ile1456MetfsTer8) c.4293del (p.Ile1431MetfsTer8) c.4191del (p.Ile1397MetfsTer8) c.3822del (p.Ile1274MetfsTer8) | ClinVar dbSNP |
| 5 | g.112840264_112840272dup | CA915943496 | APC | c.4724_4732dup (p.Ser1577_Glu1578insValAspSer) c.*4676_*4684dup (n.*4676_*4684dup) c.4616_4624dup (p.Ser1541_Glu1542insValAspSer) c.4670_4678dup (p.Ser1559_Glu1560insValAspSer) c.*3992_*4000dup (n.*3992_*4000dup) c.230+11292_230+11300dup c.4700_4708dup (p.Ser1569_Glu1570insValAspSer) c.4595_4603dup (p.Ser1534_Glu1535insValAspSer) c.4586_4594dup (p.Ser1531_Glu1532insValAspSer) c.4547_4555dup (p.Ser1518_Glu1519insValAspSer) c.4493_4501dup (p.Ser1500_Glu1501insValAspSer) c.4397_4405dup (p.Ser1468_Glu1469insValAspSer) c.4367_4375dup (p.Ser1458_Glu1459insValAspSer) c.4292_4300dup (p.Ser1433_Glu1434insValAspSer) c.4190_4198dup (p.Ser1399_Glu1400insValAspSer) c.3821_3829dup (p.Ser1276_Glu1277insValAspSer) | ClinVar dbSNP |
| 5 | g.112840265T>A | CA446206662 | APC | c.4725T>A (p.Ile1575=) c.*4677T>A (n.*4677T>A) c.4617T>A (p.Ile1539=) c.4671T>A (p.Ile1557=) c.*3993T>A (n.*3993T>A) c.230+11293T>A c.4701T>A (p.Ile1567=) c.4596T>A (p.Ile1532=) c.4587T>A (p.Ile1529=) c.4548T>A (p.Ile1516=) c.4494T>A (p.Ile1498=) c.4398T>A (p.Ile1466=) c.4368T>A (p.Ile1456=) c.4293T>A (p.Ile1431=) c.4191T>A (p.Ile1397=) c.3822T>A (p.Ile1274=) | dbSNP |
| 5 | g.112840265T>C | CA446206663 | APC | c.4725T>C (p.Ile1575=) c.*4677T>C (n.*4677T>C) c.4617T>C (p.Ile1539=) c.4671T>C (p.Ile1557=) c.*3993T>C (n.*3993T>C) c.230+11293T>C c.4701T>C (p.Ile1567=) c.4596T>C (p.Ile1532=) c.4587T>C (p.Ile1529=) c.4548T>C (p.Ile1516=) c.4494T>C (p.Ile1498=) c.4398T>C (p.Ile1466=) c.4368T>C (p.Ile1456=) c.4293T>C (p.Ile1431=) c.4191T>C (p.Ile1397=) c.3822T>C (p.Ile1274=) | ClinVar dbSNP COSMIC |
| 5 | g.112840265T>G | CA16031570 | APC | c.4725T>G (p.Ile1575Met) c.*4677T>G (n.*4677T>G) c.4617T>G (p.Ile1539Met) c.4671T>G (p.Ile1557Met) c.*3993T>G (n.*3993T>G) c.230+11293T>G c.4701T>G (p.Ile1567Met) c.4596T>G (p.Ile1532Met) c.4587T>G (p.Ile1529Met) c.4548T>G (p.Ile1516Met) c.4494T>G (p.Ile1498Met) c.4398T>G (p.Ile1466Met) c.4368T>G (p.Ile1456Met) c.4293T>G (p.Ile1431Met) c.4191T>G (p.Ile1397Met) c.3822T>G (p.Ile1274Met) | gnomAD v4 |
| 5 | g.112840266G>A | CA16031571 | APC | c.4726G>A (p.Asp1576Asn) c.*4678G>A (n.*4678G>A) c.4618G>A (p.Asp1540Asn) c.4672G>A (p.Asp1558Asn) c.*3994G>A (n.*3994G>A) c.230+11294G>A c.4702G>A (p.Asp1568Asn) c.4597G>A (p.Asp1533Asn) c.4588G>A (p.Asp1530Asn) c.4549G>A (p.Asp1517Asn) c.4495G>A (p.Asp1499Asn) c.4399G>A (p.Asp1467Asn) c.4369G>A (p.Asp1457Asn) c.4294G>A (p.Asp1432Asn) c.4192G>A (p.Asp1398Asn) c.3823G>A (p.Asp1275Asn) | dbSNP COSMIC |
| 5 | g.112840266G>C | CA16031572 | APC | c.4726G>C (p.Asp1576His) c.*4678G>C (n.*4678G>C) c.4618G>C (p.Asp1540His) c.4672G>C (p.Asp1558His) c.*3994G>C (n.*3994G>C) c.230+11294G>C c.4702G>C (p.Asp1568His) c.4597G>C (p.Asp1533His) c.4588G>C (p.Asp1530His) c.4549G>C (p.Asp1517His) c.4495G>C (p.Asp1499His) c.4399G>C (p.Asp1467His) c.4369G>C (p.Asp1457His) c.4294G>C (p.Asp1432His) c.4192G>C (p.Asp1398His) c.3823G>C (p.Asp1275His) | dbSNP |
| 5 | g.112840266G>T | CA16031573 | APC | c.4726G>T (p.Asp1576Tyr) c.*4678G>T (n.*4678G>T) c.4618G>T (p.Asp1540Tyr) c.4672G>T (p.Asp1558Tyr) c.*3994G>T (n.*3994G>T) c.230+11294G>T c.4702G>T (p.Asp1568Tyr) c.4597G>T (p.Asp1533Tyr) c.4588G>T (p.Asp1530Tyr) c.4549G>T (p.Asp1517Tyr) c.4495G>T (p.Asp1499Tyr) c.4399G>T (p.Asp1467Tyr) c.4369G>T (p.Asp1457Tyr) c.4294G>T (p.Asp1432Tyr) c.4192G>T (p.Asp1398Tyr) c.3823G>T (p.Asp1275Tyr) | dbSNP gnomAD v4 |
| 5 | g.112840266_112840267insT | CA446206664 | APC | c.4726_4727insT (p.Asp1576ValfsTer3) c.*4678_*4679insT (n.*4678_*4679insT) c.4618_4619insT (p.Asp1540ValfsTer3) c.4672_4673insT (p.Asp1558ValfsTer3) c.*3994_*3995insT (n.*3994_*3995insT) c.230+11294_230+11295insT c.4702_4703insT (p.Asp1568ValfsTer3) c.4597_4598insT (p.Asp1533ValfsTer3) c.4588_4589insT (p.Asp1530ValfsTer3) c.4549_4550insT (p.Asp1517ValfsTer3) c.4495_4496insT (p.Asp1499ValfsTer3) c.4399_4400insT (p.Asp1467ValfsTer3) c.4369_4370insT (p.Asp1457ValfsTer3) c.4294_4295insT (p.Asp1432ValfsTer3) c.4192_4193insT (p.Asp1398ValfsTer3) c.3823_3824insT (p.Asp1275ValfsTer3) | |
| 5 | g.112840267A>C | CA16031574 | APC | c.4727A>C (p.Asp1576Ala) c.*4679A>C (n.*4679A>C) c.4619A>C (p.Asp1540Ala) c.4673A>C (p.Asp1558Ala) c.*3995A>C (n.*3995A>C) c.230+11295A>C c.4703A>C (p.Asp1568Ala) c.4598A>C (p.Asp1533Ala) c.4589A>C (p.Asp1530Ala) c.4550A>C (p.Asp1517Ala) c.4496A>C (p.Asp1499Ala) c.4400A>C (p.Asp1467Ala) c.4370A>C (p.Asp1457Ala) c.4295A>C (p.Asp1432Ala) c.4193A>C (p.Asp1398Ala) c.3824A>C (p.Asp1275Ala) | dbSNP |
| 5 | g.112840267A>G | CA16031575 | APC | c.4727A>G (p.Asp1576Gly) c.*4679A>G (n.*4679A>G) c.4619A>G (p.Asp1540Gly) c.4673A>G (p.Asp1558Gly) c.*3995A>G (n.*3995A>G) c.230+11295A>G c.4703A>G (p.Asp1568Gly) c.4598A>G (p.Asp1533Gly) c.4589A>G (p.Asp1530Gly) c.4550A>G (p.Asp1517Gly) c.4496A>G (p.Asp1499Gly) c.4400A>G (p.Asp1467Gly) c.4370A>G (p.Asp1457Gly) c.4295A>G (p.Asp1432Gly) c.4193A>G (p.Asp1398Gly) c.3824A>G (p.Asp1275Gly) | dbSNP |
| 5 | g.112840267A>T | CA16031576 | APC | c.4727A>T (p.Asp1576Val) c.*4679A>T (n.*4679A>T) c.4619A>T (p.Asp1540Val) c.4673A>T (p.Asp1558Val) c.*3995A>T (n.*3995A>T) c.230+11295A>T c.4703A>T (p.Asp1568Val) c.4598A>T (p.Asp1533Val) c.4589A>T (p.Asp1530Val) c.4550A>T (p.Asp1517Val) c.4496A>T (p.Asp1499Val) c.4400A>T (p.Asp1467Val) c.4370A>T (p.Asp1457Val) c.4295A>T (p.Asp1432Val) c.4193A>T (p.Asp1398Val) c.3824A>T (p.Asp1275Val) | dbSNP |
| 5 | g.112840268T>A | CA16031577 | APC | c.4728T>A (p.Asp1576Glu) c.*4680T>A (n.*4680T>A) c.4620T>A (p.Asp1540Glu) c.4674T>A (p.Asp1558Glu) c.*3996T>A (n.*3996T>A) c.230+11296T>A c.4704T>A (p.Asp1568Glu) c.4599T>A (p.Asp1533Glu) c.4590T>A (p.Asp1530Glu) c.4551T>A (p.Asp1517Glu) c.4497T>A (p.Asp1499Glu) c.4401T>A (p.Asp1467Glu) c.4371T>A (p.Asp1457Glu) c.4296T>A (p.Asp1432Glu) c.4194T>A (p.Asp1398Glu) c.3825T>A (p.Asp1275Glu) | dbSNP |
| 5 | g.112840268T>C | CA446206665 | APC | c.4728T>C (p.Asp1576=) c.*4680T>C (n.*4680T>C) c.4620T>C (p.Asp1540=) c.4674T>C (p.Asp1558=) c.*3996T>C (n.*3996T>C) c.230+11296T>C c.4704T>C (p.Asp1568=) c.4599T>C (p.Asp1533=) c.4590T>C (p.Asp1530=) c.4551T>C (p.Asp1517=) c.4497T>C (p.Asp1499=) c.4401T>C (p.Asp1467=) c.4371T>C (p.Asp1457=) c.4296T>C (p.Asp1432=) c.4194T>C (p.Asp1398=) c.3825T>C (p.Asp1275=) | dbSNP |
| 5 | g.112840268T>G | CA16031578 | APC | c.4728T>G (p.Asp1576Glu) c.*4680T>G (n.*4680T>G) c.4620T>G (p.Asp1540Glu) c.4674T>G (p.Asp1558Glu) c.*3996T>G (n.*3996T>G) c.230+11296T>G c.4704T>G (p.Asp1568Glu) c.4599T>G (p.Asp1533Glu) c.4590T>G (p.Asp1530Glu) c.4551T>G (p.Asp1517Glu) c.4497T>G (p.Asp1499Glu) c.4401T>G (p.Asp1467Glu) c.4371T>G (p.Asp1457Glu) c.4296T>G (p.Asp1432Glu) c.4194T>G (p.Asp1398Glu) c.3825T>G (p.Asp1275Glu) | dbSNP |
| 5 | g.112840269T>A | CA16031579 | APC | c.4729T>A (p.Ser1577Thr) c.*4681T>A (n.*4681T>A) c.4621T>A (p.Ser1541Thr) c.4675T>A (p.Ser1559Thr) c.*3997T>A (n.*3997T>A) c.230+11297T>A c.4705T>A (p.Ser1569Thr) c.4600T>A (p.Ser1534Thr) c.4591T>A (p.Ser1531Thr) c.4552T>A (p.Ser1518Thr) c.4498T>A (p.Ser1500Thr) c.4402T>A (p.Ser1468Thr) c.4372T>A (p.Ser1458Thr) c.4297T>A (p.Ser1433Thr) c.4195T>A (p.Ser1399Thr) c.3826T>A (p.Ser1276Thr) | dbSNP |
| 5 | g.112840269T>C | CA16031580 | APC | c.4729T>C (p.Ser1577Pro) c.*4681T>C (n.*4681T>C) c.4621T>C (p.Ser1541Pro) c.4675T>C (p.Ser1559Pro) c.*3997T>C (n.*3997T>C) c.230+11297T>C c.4705T>C (p.Ser1569Pro) c.4600T>C (p.Ser1534Pro) c.4591T>C (p.Ser1531Pro) c.4552T>C (p.Ser1518Pro) c.4498T>C (p.Ser1500Pro) c.4402T>C (p.Ser1468Pro) c.4372T>C (p.Ser1458Pro) c.4297T>C (p.Ser1433Pro) c.4195T>C (p.Ser1399Pro) c.3826T>C (p.Ser1276Pro) | |
| 5 | g.112840269T>G | CA16031581 | APC | c.4729T>G (p.Ser1577Ala) c.*4681T>G (n.*4681T>G) c.4621T>G (p.Ser1541Ala) c.4675T>G (p.Ser1559Ala) c.*3997T>G (n.*3997T>G) c.230+11297T>G c.4705T>G (p.Ser1569Ala) c.4600T>G (p.Ser1534Ala) c.4591T>G (p.Ser1531Ala) c.4552T>G (p.Ser1518Ala) c.4498T>G (p.Ser1500Ala) c.4402T>G (p.Ser1468Ala) c.4372T>G (p.Ser1458Ala) c.4297T>G (p.Ser1433Ala) c.4195T>G (p.Ser1399Ala) c.3826T>G (p.Ser1276Ala) | gnomAD v4 |
| 5 | g.112840270C>A | CA16031582 | APC | c.4730C>A (p.Ser1577Tyr) c.*4682C>A (n.*4682C>A) c.4622C>A (p.Ser1541Tyr) c.4676C>A (p.Ser1559Tyr) c.*3998C>A (n.*3998C>A) c.230+11298C>A c.4706C>A (p.Ser1569Tyr) c.4601C>A (p.Ser1534Tyr) c.4592C>A (p.Ser1531Tyr) c.4553C>A (p.Ser1518Tyr) c.4499C>A (p.Ser1500Tyr) c.4403C>A (p.Ser1468Tyr) c.4373C>A (p.Ser1458Tyr) c.4298C>A (p.Ser1433Tyr) c.4196C>A (p.Ser1399Tyr) c.3827C>A (p.Ser1276Tyr) | dbSNP |
| 5 | g.112840270C= | CA1573470750 | APC | c.4730C= (p.Ser1577=) c.*4682C= (n.*4682C=) c.4622C= (p.Ser1541=) c.4676C= (p.Ser1559=) c.*3998C= (n.*3998C=) c.230+11298C= c.4706C= (p.Ser1569=) c.4601C= (p.Ser1534=) c.4592C= (p.Ser1531=) c.4553C= (p.Ser1518=) c.4499C= (p.Ser1500=) c.4403C= (p.Ser1468=) c.4373C= (p.Ser1458=) c.4298C= (p.Ser1433=) c.4196C= (p.Ser1399=) c.3827C= (p.Ser1276=) | |
| 5 | g.112840270C>G | CA16031583 | APC | c.4730C>G (p.Ser1577Cys) c.*4682C>G (n.*4682C>G) c.4622C>G (p.Ser1541Cys) c.4676C>G (p.Ser1559Cys) c.*3998C>G (n.*3998C>G) c.230+11298C>G c.4706C>G (p.Ser1569Cys) c.4601C>G (p.Ser1534Cys) c.4592C>G (p.Ser1531Cys) c.4553C>G (p.Ser1518Cys) c.4499C>G (p.Ser1500Cys) c.4403C>G (p.Ser1468Cys) c.4373C>G (p.Ser1458Cys) c.4298C>G (p.Ser1433Cys) c.4196C>G (p.Ser1399Cys) c.3827C>G (p.Ser1276Cys) | dbSNP |
| 5 | g.112840270C>T | CA10582316 | APC | c.4730C>T (p.Ser1577Phe) c.*4682C>T (n.*4682C>T) c.4622C>T (p.Ser1541Phe) c.4676C>T (p.Ser1559Phe) c.*3998C>T (n.*3998C>T) c.230+11298C>T c.4706C>T (p.Ser1569Phe) c.4601C>T (p.Ser1534Phe) c.4592C>T (p.Ser1531Phe) c.4553C>T (p.Ser1518Phe) c.4499C>T (p.Ser1500Phe) c.4403C>T (p.Ser1468Phe) c.4373C>T (p.Ser1458Phe) c.4298C>T (p.Ser1433Phe) c.4196C>T (p.Ser1399Phe) c.3827C>T (p.Ser1276Phe) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112840271T>A | CA446206666 | APC | c.4731T>A (p.Ser1577=) c.*4683T>A (n.*4683T>A) c.4623T>A (p.Ser1541=) c.4677T>A (p.Ser1559=) c.*3999T>A (n.*3999T>A) c.230+11299T>A c.4707T>A (p.Ser1569=) c.4602T>A (p.Ser1534=) c.4593T>A (p.Ser1531=) c.4554T>A (p.Ser1518=) c.4500T>A (p.Ser1500=) c.4404T>A (p.Ser1468=) c.4374T>A (p.Ser1458=) c.4299T>A (p.Ser1433=) c.4197T>A (p.Ser1399=) c.3828T>A (p.Ser1276=) | dbSNP |
| 5 | g.112840271T>C | CA446206667 | APC | c.4731T>C (p.Ser1577=) c.*4683T>C (n.*4683T>C) c.4623T>C (p.Ser1541=) c.4677T>C (p.Ser1559=) c.*3999T>C (n.*3999T>C) c.230+11299T>C c.4707T>C (p.Ser1569=) c.4602T>C (p.Ser1534=) c.4593T>C (p.Ser1531=) c.4554T>C (p.Ser1518=) c.4500T>C (p.Ser1500=) c.4404T>C (p.Ser1468=) c.4374T>C (p.Ser1458=) c.4299T>C (p.Ser1433=) c.4197T>C (p.Ser1399=) c.3828T>C (p.Ser1276=) | dbSNP |
| 5 | g.112840271T>G | CA446206668 | APC | c.4731T>G (p.Ser1577=) c.*4683T>G (n.*4683T>G) c.4623T>G (p.Ser1541=) c.4677T>G (p.Ser1559=) c.*3999T>G (n.*3999T>G) c.230+11299T>G c.4707T>G (p.Ser1569=) c.4602T>G (p.Ser1534=) c.4593T>G (p.Ser1531=) c.4554T>G (p.Ser1518=) c.4500T>G (p.Ser1500=) c.4404T>G (p.Ser1468=) c.4374T>G (p.Ser1458=) c.4299T>G (p.Ser1433=) c.4197T>G (p.Ser1399=) c.3828T>G (p.Ser1276=) | |
| 5 | g.112840272G>A | CA16031584 | APC | c.4732G>A (p.Glu1578Lys) c.*4684G>A (n.*4684G>A) c.4624G>A (p.Glu1542Lys) c.4678G>A (p.Glu1560Lys) c.*4000G>A (n.*4000G>A) c.230+11300G>A c.4708G>A (p.Glu1570Lys) c.4603G>A (p.Glu1535Lys) c.4594G>A (p.Glu1532Lys) c.4555G>A (p.Glu1519Lys) c.4501G>A (p.Glu1501Lys) c.4405G>A (p.Glu1469Lys) c.4375G>A (p.Glu1459Lys) c.4300G>A (p.Glu1434Lys) c.4198G>A (p.Glu1400Lys) c.3829G>A (p.Glu1277Lys) | ClinVar dbSNP gnomAD v4 COSMIC |
| 5 | g.112840272G>C | CA16031585 | APC | c.4732G>C (p.Glu1578Gln) c.*4684G>C (n.*4684G>C) c.4624G>C (p.Glu1542Gln) c.4678G>C (p.Glu1560Gln) c.*4000G>C (n.*4000G>C) c.230+11300G>C c.4708G>C (p.Glu1570Gln) c.4603G>C (p.Glu1535Gln) c.4594G>C (p.Glu1532Gln) c.4555G>C (p.Glu1519Gln) c.4501G>C (p.Glu1501Gln) c.4405G>C (p.Glu1469Gln) c.4375G>C (p.Glu1459Gln) c.4300G>C (p.Glu1434Gln) c.4198G>C (p.Glu1400Gln) c.3829G>C (p.Glu1277Gln) | dbSNP |
| 5 | g.112840272G>T | CA16031586 | APC | c.4732G>T (p.Glu1578Ter) c.*4684G>T (n.*4684G>T) c.4624G>T (p.Glu1542Ter) c.4678G>T (p.Glu1560Ter) c.*4000G>T (n.*4000G>T) c.230+11300G>T c.4708G>T (p.Glu1570Ter) c.4603G>T (p.Glu1535Ter) c.4594G>T (p.Glu1532Ter) c.4555G>T (p.Glu1519Ter) c.4501G>T (p.Glu1501Ter) c.4405G>T (p.Glu1469Ter) c.4375G>T (p.Glu1459Ter) c.4300G>T (p.Glu1434Ter) c.4198G>T (p.Glu1400Ter) c.3829G>T (p.Glu1277Ter) | ClinVar dbSNP COSMIC |