| 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.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) | ClinVar |
| 5 | g.112840386_112840395del | CA2695198722 | APC | c.4846_4855del (p.Ala1616TyrfsTer?) c.*4798_*4807del (n.*4798_*4807del) c.4738_4747del (p.Ala1580TyrfsTer?) c.4792_4801del (p.Ala1598TyrfsTer?) c.*4114_*4123del (n.*4114_*4123del) c.230+11414_230+11423del c.4822_4831del (p.Ala1608TyrfsTer?) c.4717_4726del (p.Ala1573TyrfsTer?) c.4708_4717del (p.Ala1570TyrfsTer?) c.4669_4678del (p.Ala1557TyrfsTer?) c.4615_4624del (p.Ala1539TyrfsTer?) c.4519_4528del (p.Ala1507TyrfsTer?) c.4489_4498del (p.Ala1497TyrfsTer?) c.4414_4423del (p.Ala1472TyrfsTer?) c.4312_4321del (p.Ala1438TyrfsTer?) c.3943_3952del (p.Ala1315TyrfsTer?) | ClinVar |
| 5 | g.112840395T>A | CA16031852 | APC | c.4855T>A (p.Leu1619Ile) c.*4807T>A (n.*4807T>A) c.4747T>A (p.Leu1583Ile) c.4801T>A (p.Leu1601Ile) c.*4123T>A (n.*4123T>A) c.230+11423T>A c.4831T>A (p.Leu1611Ile) c.4726T>A (p.Leu1576Ile) c.4717T>A (p.Leu1573Ile) c.4678T>A (p.Leu1560Ile) c.4624T>A (p.Leu1542Ile) c.4528T>A (p.Leu1510Ile) c.4498T>A (p.Leu1500Ile) c.4423T>A (p.Leu1475Ile) c.4321T>A (p.Leu1441Ile) c.3952T>A (p.Leu1318Ile) | dbSNP |
| 5 | g.112840395T>C | CA446208050 | APC | c.4855T>C (p.Leu1619=) c.*4807T>C (n.*4807T>C) c.4747T>C (p.Leu1583=) c.4801T>C (p.Leu1601=) c.*4123T>C (n.*4123T>C) c.230+11423T>C c.4831T>C (p.Leu1611=) c.4726T>C (p.Leu1576=) c.4717T>C (p.Leu1573=) c.4678T>C (p.Leu1560=) c.4624T>C (p.Leu1542=) c.4528T>C (p.Leu1510=) c.4498T>C (p.Leu1500=) c.4423T>C (p.Leu1475=) c.4321T>C (p.Leu1441=) c.3952T>C (p.Leu1318=) | dbSNP |
| 5 | g.112840395T>G | CA16031853 | APC | c.4855T>G (p.Leu1619Val) c.*4807T>G (n.*4807T>G) c.4747T>G (p.Leu1583Val) c.4801T>G (p.Leu1601Val) c.*4123T>G (n.*4123T>G) c.230+11423T>G c.4831T>G (p.Leu1611Val) c.4726T>G (p.Leu1576Val) c.4717T>G (p.Leu1573Val) c.4678T>G (p.Leu1560Val) c.4624T>G (p.Leu1542Val) c.4528T>G (p.Leu1510Val) c.4498T>G (p.Leu1500Val) c.4423T>G (p.Leu1475Val) c.4321T>G (p.Leu1441Val) c.3952T>G (p.Leu1318Val) | dbSNP |
| 5 | g.112840396del | CA2580072573 | APC | c.4856del (p.Leu1619TyrfsTer?) c.*4808del (n.*4808del) c.4748del (p.Leu1583TyrfsTer?) c.4802del (p.Leu1601TyrfsTer?) c.*4124del (n.*4124del) c.230+11424del c.4832del (p.Leu1611TyrfsTer?) c.4727del (p.Leu1576TyrfsTer?) c.4718del (p.Leu1573TyrfsTer?) c.4679del (p.Leu1560TyrfsTer?) c.4625del (p.Leu1542TyrfsTer?) c.4529del (p.Leu1510TyrfsTer?) c.4499del (p.Leu1500TyrfsTer?) c.4424del (p.Leu1475TyrfsTer?) c.4322del (p.Leu1441TyrfsTer?) c.3953del (p.Leu1318TyrfsTer?) | ClinVar |
| 5 | g.112840396T>A | CA16031854 | APC | c.4856T>A (p.Leu1619Ter) c.*4808T>A (n.*4808T>A) c.4748T>A (p.Leu1583Ter) c.4802T>A (p.Leu1601Ter) c.*4124T>A (n.*4124T>A) c.230+11424T>A c.4832T>A (p.Leu1611Ter) c.4727T>A (p.Leu1576Ter) c.4718T>A (p.Leu1573Ter) c.4679T>A (p.Leu1560Ter) c.4625T>A (p.Leu1542Ter) c.4529T>A (p.Leu1510Ter) c.4499T>A (p.Leu1500Ter) c.4424T>A (p.Leu1475Ter) c.4322T>A (p.Leu1441Ter) c.3953T>A (p.Leu1318Ter) | dbSNP |
| 5 | g.112840396T>C | CA16031855 | APC | c.4856T>C (p.Leu1619Ser) c.*4808T>C (n.*4808T>C) c.4748T>C (p.Leu1583Ser) c.4802T>C (p.Leu1601Ser) c.*4124T>C (n.*4124T>C) c.230+11424T>C c.4832T>C (p.Leu1611Ser) c.4727T>C (p.Leu1576Ser) c.4718T>C (p.Leu1573Ser) c.4679T>C (p.Leu1560Ser) c.4625T>C (p.Leu1542Ser) c.4529T>C (p.Leu1510Ser) c.4499T>C (p.Leu1500Ser) c.4424T>C (p.Leu1475Ser) c.4322T>C (p.Leu1441Ser) c.3953T>C (p.Leu1318Ser) | ClinVar dbSNP |
| 5 | g.112840396T>G | CA16031856 | APC | c.4856T>G (p.Leu1619Ter) c.*4808T>G (n.*4808T>G) c.4748T>G (p.Leu1583Ter) c.4802T>G (p.Leu1601Ter) c.*4124T>G (n.*4124T>G) c.230+11424T>G c.4832T>G (p.Leu1611Ter) c.4727T>G (p.Leu1576Ter) c.4718T>G (p.Leu1573Ter) c.4679T>G (p.Leu1560Ter) c.4625T>G (p.Leu1542Ter) c.4529T>G (p.Leu1510Ter) c.4499T>G (p.Leu1500Ter) c.4424T>G (p.Leu1475Ter) c.4322T>G (p.Leu1441Ter) c.3953T>G (p.Leu1318Ter) | |
| 5 | g.112840396T= | CA1573471553 | APC | c.4856T= (p.Leu1619=) c.*4808T= (n.*4808T=) c.4748T= (p.Leu1583=) c.4802T= (p.Leu1601=) c.*4124T= (n.*4124T=) c.230+11424T= c.4832T= (p.Leu1611=) c.4727T= (p.Leu1576=) c.4718T= (p.Leu1573=) c.4679T= (p.Leu1560=) c.4625T= (p.Leu1542=) c.4529T= (p.Leu1510=) c.4499T= (p.Leu1500=) c.4424T= (p.Leu1475=) c.4322T= (p.Leu1441=) c.3953T= (p.Leu1318=) | |
| 5 | g.112840397A= | CA1573471562 | APC | c.4857A= (p.Leu1619=) c.*4809A= (n.*4809A=) c.4749A= (p.Leu1583=) c.4803A= (p.Leu1601=) c.*4125A= (n.*4125A=) c.230+11425A= c.4833A= (p.Leu1611=) c.4728A= (p.Leu1576=) c.4719A= (p.Leu1573=) c.4680A= (p.Leu1560=) c.4626A= (p.Leu1542=) c.4530A= (p.Leu1510=) c.4500A= (p.Leu1500=) c.4425A= (p.Leu1475=) c.4323A= (p.Leu1441=) c.3954A= (p.Leu1318=) | |
| 5 | g.112840397A>C | CA16031857 | APC | c.4857A>C (p.Leu1619Phe) c.*4809A>C (n.*4809A>C) c.4749A>C (p.Leu1583Phe) c.4803A>C (p.Leu1601Phe) c.*4125A>C (n.*4125A>C) c.230+11425A>C c.4833A>C (p.Leu1611Phe) c.4728A>C (p.Leu1576Phe) c.4719A>C (p.Leu1573Phe) c.4680A>C (p.Leu1560Phe) c.4626A>C (p.Leu1542Phe) c.4530A>C (p.Leu1510Phe) c.4500A>C (p.Leu1500Phe) c.4425A>C (p.Leu1475Phe) c.4323A>C (p.Leu1441Phe) c.3954A>C (p.Leu1318Phe) | ClinVar dbSNP |
| 5 | g.112840397A>G | CA446208051 | APC | c.4857A>G (p.Leu1619=) c.*4809A>G (n.*4809A>G) c.4749A>G (p.Leu1583=) c.4803A>G (p.Leu1601=) c.*4125A>G (n.*4125A>G) c.230+11425A>G c.4833A>G (p.Leu1611=) c.4728A>G (p.Leu1576=) c.4719A>G (p.Leu1573=) c.4680A>G (p.Leu1560=) c.4626A>G (p.Leu1542=) c.4530A>G (p.Leu1510=) c.4500A>G (p.Leu1500=) c.4425A>G (p.Leu1475=) c.4323A>G (p.Leu1441=) c.3954A>G (p.Leu1318=) | ClinVar dbSNP |
| 5 | g.112840397A>T | CA16031858 | APC | c.4857A>T (p.Leu1619Phe) c.*4809A>T (n.*4809A>T) c.4749A>T (p.Leu1583Phe) c.4803A>T (p.Leu1601Phe) c.*4125A>T (n.*4125A>T) c.230+11425A>T c.4833A>T (p.Leu1611Phe) c.4728A>T (p.Leu1576Phe) c.4719A>T (p.Leu1573Phe) c.4680A>T (p.Leu1560Phe) c.4626A>T (p.Leu1542Phe) c.4530A>T (p.Leu1510Phe) c.4500A>T (p.Leu1500Phe) c.4425A>T (p.Leu1475Phe) c.4323A>T (p.Leu1441Phe) c.3954A>T (p.Leu1318Phe) | dbSNP |
| 5 | g.112840398C>A | CA16031859 | APC | c.4858C>A (p.Pro1620Thr) c.*4810C>A (n.*4810C>A) c.4750C>A (p.Pro1584Thr) c.4804C>A (p.Pro1602Thr) c.*4126C>A (n.*4126C>A) c.230+11426C>A c.4834C>A (p.Pro1612Thr) c.4729C>A (p.Pro1577Thr) c.4720C>A (p.Pro1574Thr) c.4681C>A (p.Pro1561Thr) c.4627C>A (p.Pro1543Thr) c.4531C>A (p.Pro1511Thr) c.4501C>A (p.Pro1501Thr) c.4426C>A (p.Pro1476Thr) c.4324C>A (p.Pro1442Thr) c.3955C>A (p.Pro1319Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.112840398C= | CA1573471604 | APC | c.4858C= (p.Pro1620=) c.*4810C= (n.*4810C=) c.4750C= (p.Pro1584=) c.4804C= (p.Pro1602=) c.*4126C= (n.*4126C=) c.230+11426C= c.4834C= (p.Pro1612=) c.4729C= (p.Pro1577=) c.4720C= (p.Pro1574=) c.4681C= (p.Pro1561=) c.4627C= (p.Pro1543=) c.4531C= (p.Pro1511=) c.4501C= (p.Pro1501=) c.4426C= (p.Pro1476=) c.4324C= (p.Pro1442=) c.3955C= (p.Pro1319=) | |
| 5 | g.112840398C>G | CA16031860 | APC | c.4858C>G (p.Pro1620Ala) c.*4810C>G (n.*4810C>G) c.4750C>G (p.Pro1584Ala) c.4804C>G (p.Pro1602Ala) c.*4126C>G (n.*4126C>G) c.230+11426C>G c.4834C>G (p.Pro1612Ala) c.4729C>G (p.Pro1577Ala) c.4720C>G (p.Pro1574Ala) c.4681C>G (p.Pro1561Ala) c.4627C>G (p.Pro1543Ala) c.4531C>G (p.Pro1511Ala) c.4501C>G (p.Pro1501Ala) c.4426C>G (p.Pro1476Ala) c.4324C>G (p.Pro1442Ala) c.3955C>G (p.Pro1319Ala) | ClinVar dbSNP |
| 5 | g.112840398C>T | CA16031861 | APC | c.4858C>T (p.Pro1620Ser) c.*4810C>T (n.*4810C>T) c.4750C>T (p.Pro1584Ser) c.4804C>T (p.Pro1602Ser) c.*4126C>T (n.*4126C>T) c.230+11426C>T c.4834C>T (p.Pro1612Ser) c.4729C>T (p.Pro1577Ser) c.4720C>T (p.Pro1574Ser) c.4681C>T (p.Pro1561Ser) c.4627C>T (p.Pro1543Ser) c.4531C>T (p.Pro1511Ser) c.4501C>T (p.Pro1501Ser) c.4426C>T (p.Pro1476Ser) c.4324C>T (p.Pro1442Ser) c.3955C>T (p.Pro1319Ser) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112840399del | CA2582341376 | APC | c.4859del (p.Pro1620LeufsTer?) c.*4811del (n.*4811del) c.4751del (p.Pro1584LeufsTer?) c.4805del (p.Pro1602LeufsTer?) c.*4127del (n.*4127del) c.230+11427del c.4835del (p.Pro1612LeufsTer?) c.4730del (p.Pro1577LeufsTer?) c.4721del (p.Pro1574LeufsTer?) c.4682del (p.Pro1561LeufsTer?) c.4628del (p.Pro1543LeufsTer?) c.4532del (p.Pro1511LeufsTer?) c.4502del (p.Pro1501LeufsTer?) c.4427del (p.Pro1476LeufsTer?) c.4325del (p.Pro1442LeufsTer?) c.3956del (p.Pro1319LeufsTer?) | ClinVar |
| 5 | g.112840398_112840400delinsACA | CA658683422 | APC | c.4858_4860delinsACA (p.Pro1620Thr) c.*4810_*4812delinsACA (n.*4810_*4812delinsACA) c.4750_4752delinsACA (p.Pro1584Thr) c.4804_4806delinsACA (p.Pro1602Thr) c.*4126_*4128delinsACA (n.*4126_*4128delinsACA) c.230+11426_230+11428delinsACA c.4834_4836delinsACA (p.Pro1612Thr) c.4729_4731delinsACA (p.Pro1577Thr) c.4720_4722delinsACA (p.Pro1574Thr) c.4681_4683delinsACA (p.Pro1561Thr) c.4627_4629delinsACA (p.Pro1543Thr) c.4531_4533delinsACA (p.Pro1511Thr) c.4501_4503delinsACA (p.Pro1501Thr) c.4426_4428delinsACA (p.Pro1476Thr) c.4324_4326delinsACA (p.Pro1442Thr) c.3955_3957delinsACA (p.Pro1319Thr) | ClinVar dbSNP |
| 5 | g.112840398_112840400delinsCCT | CA1573471576 | APC | c.4858_4860delinsCCT (p.Pro1620=) c.*4810_*4812delinsCCT (n.*4810_*4812delinsCCT) c.4750_4752delinsCCT (p.Pro1584=) c.4804_4806delinsCCT (p.Pro1602=) c.*4126_*4128delinsCCT (n.*4126_*4128delinsCCT) c.230+11426_230+11428delinsCCT c.4834_4836delinsCCT (p.Pro1612=) c.4729_4731delinsCCT (p.Pro1577=) c.4720_4722delinsCCT (p.Pro1574=) c.4681_4683delinsCCT (p.Pro1561=) c.4627_4629delinsCCT (p.Pro1543=) c.4531_4533delinsCCT (p.Pro1511=) c.4501_4503delinsCCT (p.Pro1501=) c.4426_4428delinsCCT (p.Pro1476=) c.4324_4326delinsCCT (p.Pro1442=) c.3955_3957delinsCCT (p.Pro1319=) | |
| 5 | g.112840399C>A | CA16031862 | APC | c.4859C>A (p.Pro1620His) c.*4811C>A (n.*4811C>A) c.4751C>A (p.Pro1584His) c.4805C>A (p.Pro1602His) c.*4127C>A (n.*4127C>A) c.230+11427C>A c.4835C>A (p.Pro1612His) c.4730C>A (p.Pro1577His) c.4721C>A (p.Pro1574His) c.4682C>A (p.Pro1561His) c.4628C>A (p.Pro1543His) c.4532C>A (p.Pro1511His) c.4502C>A (p.Pro1501His) c.4427C>A (p.Pro1476His) c.4325C>A (p.Pro1442His) c.3956C>A (p.Pro1319His) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112840399C= | CA1573471611 | APC | c.4859C= (p.Pro1620=) c.*4811C= (n.*4811C=) c.4751C= (p.Pro1584=) c.4805C= (p.Pro1602=) c.*4127C= (n.*4127C=) c.230+11427C= c.4835C= (p.Pro1612=) c.4730C= (p.Pro1577=) c.4721C= (p.Pro1574=) c.4682C= (p.Pro1561=) c.4628C= (p.Pro1543=) c.4532C= (p.Pro1511=) c.4502C= (p.Pro1501=) c.4427C= (p.Pro1476=) c.4325C= (p.Pro1442=) c.3956C= (p.Pro1319=) | |
| 5 | g.112840399C>G | CA16031863 | APC | c.4859C>G (p.Pro1620Arg) c.*4811C>G (n.*4811C>G) c.4751C>G (p.Pro1584Arg) c.4805C>G (p.Pro1602Arg) c.*4127C>G (n.*4127C>G) c.230+11427C>G c.4835C>G (p.Pro1612Arg) c.4730C>G (p.Pro1577Arg) c.4721C>G (p.Pro1574Arg) c.4682C>G (p.Pro1561Arg) c.4628C>G (p.Pro1543Arg) c.4532C>G (p.Pro1511Arg) c.4502C>G (p.Pro1501Arg) c.4427C>G (p.Pro1476Arg) c.4325C>G (p.Pro1442Arg) c.3956C>G (p.Pro1319Arg) | dbSNP |
| 5 | g.112840399C>T | CA16031864 | APC | c.4859C>T (p.Pro1620Leu) c.*4811C>T (n.*4811C>T) c.4751C>T (p.Pro1584Leu) c.4805C>T (p.Pro1602Leu) c.*4127C>T (n.*4127C>T) c.230+11427C>T c.4835C>T (p.Pro1612Leu) c.4730C>T (p.Pro1577Leu) c.4721C>T (p.Pro1574Leu) c.4682C>T (p.Pro1561Leu) c.4628C>T (p.Pro1543Leu) c.4532C>T (p.Pro1511Leu) c.4502C>T (p.Pro1501Leu) c.4427C>T (p.Pro1476Leu) c.4325C>T (p.Pro1442Leu) c.3956C>T (p.Pro1319Leu) | ClinVar dbSNP |
| 5 | g.112840400T>A | CA446208052 | APC | c.4860T>A (p.Pro1620=) c.*4812T>A (n.*4812T>A) c.4752T>A (p.Pro1584=) c.4806T>A (p.Pro1602=) c.*4128T>A (n.*4128T>A) c.230+11428T>A c.4836T>A (p.Pro1612=) c.4731T>A (p.Pro1577=) c.4722T>A (p.Pro1574=) c.4683T>A (p.Pro1561=) c.4629T>A (p.Pro1543=) c.4533T>A (p.Pro1511=) c.4503T>A (p.Pro1501=) c.4428T>A (p.Pro1476=) c.4326T>A (p.Pro1442=) c.3957T>A (p.Pro1319=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.112840400T>C | CA446208053 | APC | c.4860T>C (p.Pro1620=) c.*4812T>C (n.*4812T>C) c.4752T>C (p.Pro1584=) c.4806T>C (p.Pro1602=) c.*4128T>C (n.*4128T>C) c.230+11428T>C c.4836T>C (p.Pro1612=) c.4731T>C (p.Pro1577=) c.4722T>C (p.Pro1574=) c.4683T>C (p.Pro1561=) c.4629T>C (p.Pro1543=) c.4533T>C (p.Pro1511=) c.4503T>C (p.Pro1501=) c.4428T>C (p.Pro1476=) c.4326T>C (p.Pro1442=) c.3957T>C (p.Pro1319=) | |
| 5 | g.112840400T>G | CA446208054 | APC | c.4860T>G (p.Pro1620=) c.*4812T>G (n.*4812T>G) c.4752T>G (p.Pro1584=) c.4806T>G (p.Pro1602=) c.*4128T>G (n.*4128T>G) c.230+11428T>G c.4836T>G (p.Pro1612=) c.4731T>G (p.Pro1577=) c.4722T>G (p.Pro1574=) c.4683T>G (p.Pro1561=) c.4629T>G (p.Pro1543=) c.4533T>G (p.Pro1511=) c.4503T>G (p.Pro1501=) c.4428T>G (p.Pro1476=) c.4326T>G (p.Pro1442=) c.3957T>G (p.Pro1319=) | |
| 5 | g.112840400T= | CA1573471619 | APC | c.4860T= (p.Pro1620=) c.*4812T= (n.*4812T=) c.4752T= (p.Pro1584=) c.4806T= (p.Pro1602=) c.*4128T= (n.*4128T=) c.230+11428T= c.4836T= (p.Pro1612=) c.4731T= (p.Pro1577=) c.4722T= (p.Pro1574=) c.4683T= (p.Pro1561=) c.4629T= (p.Pro1543=) c.4533T= (p.Pro1511=) c.4503T= (p.Pro1501=) c.4428T= (p.Pro1476=) c.4326T= (p.Pro1442=) c.3957T= (p.Pro1319=) | |
| 5 | g.112840401C>A | CA16031865 | APC | c.4861C>A (p.Pro1621Thr) c.*4813C>A (n.*4813C>A) c.4753C>A (p.Pro1585Thr) c.4807C>A (p.Pro1603Thr) c.*4129C>A (n.*4129C>A) c.230+11429C>A c.4837C>A (p.Pro1613Thr) c.4732C>A (p.Pro1578Thr) c.4723C>A (p.Pro1575Thr) c.4684C>A (p.Pro1562Thr) c.4630C>A (p.Pro1544Thr) c.4534C>A (p.Pro1512Thr) c.4504C>A (p.Pro1502Thr) c.4429C>A (p.Pro1477Thr) c.4327C>A (p.Pro1443Thr) c.3958C>A (p.Pro1320Thr) | ClinVar dbSNP |
| 5 | g.112840401C= | CA1573471631 | APC | c.4861C= (p.Pro1621=) c.*4813C= (n.*4813C=) c.4753C= (p.Pro1585=) c.4807C= (p.Pro1603=) c.*4129C= (n.*4129C=) c.230+11429C= c.4837C= (p.Pro1613=) c.4732C= (p.Pro1578=) c.4723C= (p.Pro1575=) c.4684C= (p.Pro1562=) c.4630C= (p.Pro1544=) c.4534C= (p.Pro1512=) c.4504C= (p.Pro1502=) c.4429C= (p.Pro1477=) c.4327C= (p.Pro1443=) c.3958C= (p.Pro1320=) | |
| 5 | g.112840401C>G | CA16031866 | APC | c.4861C>G (p.Pro1621Ala) c.*4813C>G (n.*4813C>G) c.4753C>G (p.Pro1585Ala) c.4807C>G (p.Pro1603Ala) c.*4129C>G (n.*4129C>G) c.230+11429C>G c.4837C>G (p.Pro1613Ala) c.4732C>G (p.Pro1578Ala) c.4723C>G (p.Pro1575Ala) c.4684C>G (p.Pro1562Ala) c.4630C>G (p.Pro1544Ala) c.4534C>G (p.Pro1512Ala) c.4504C>G (p.Pro1502Ala) c.4429C>G (p.Pro1477Ala) c.4327C>G (p.Pro1443Ala) c.3958C>G (p.Pro1320Ala) | dbSNP |
| 5 | g.112840401C>T | CA16031867 | APC | c.4861C>T (p.Pro1621Ser) c.*4813C>T (n.*4813C>T) c.4753C>T (p.Pro1585Ser) c.4807C>T (p.Pro1603Ser) c.*4129C>T (n.*4129C>T) c.230+11429C>T c.4837C>T (p.Pro1613Ser) c.4732C>T (p.Pro1578Ser) c.4723C>T (p.Pro1575Ser) c.4684C>T (p.Pro1562Ser) c.4630C>T (p.Pro1544Ser) c.4534C>T (p.Pro1512Ser) c.4504C>T (p.Pro1502Ser) c.4429C>T (p.Pro1477Ser) c.4327C>T (p.Pro1443Ser) c.3958C>T (p.Pro1320Ser) | ClinVar dbSNP |
| 5 | g.112840402C>A | CA16031868 | APC | c.4862C>A (p.Pro1621Gln) c.*4814C>A (n.*4814C>A) c.4754C>A (p.Pro1585Gln) c.4808C>A (p.Pro1603Gln) c.*4130C>A (n.*4130C>A) c.230+11430C>A c.4838C>A (p.Pro1613Gln) c.4733C>A (p.Pro1578Gln) c.4724C>A (p.Pro1575Gln) c.4685C>A (p.Pro1562Gln) c.4631C>A (p.Pro1544Gln) c.4535C>A (p.Pro1512Gln) c.4505C>A (p.Pro1502Gln) c.4430C>A (p.Pro1477Gln) c.4328C>A (p.Pro1443Gln) c.3959C>A (p.Pro1320Gln) | dbSNP |
| 5 | g.112840402C>G | CA16031869 | APC | c.4862C>G (p.Pro1621Arg) c.*4814C>G (n.*4814C>G) c.4754C>G (p.Pro1585Arg) c.4808C>G (p.Pro1603Arg) c.*4130C>G (n.*4130C>G) c.230+11430C>G c.4838C>G (p.Pro1613Arg) c.4733C>G (p.Pro1578Arg) c.4724C>G (p.Pro1575Arg) c.4685C>G (p.Pro1562Arg) c.4631C>G (p.Pro1544Arg) c.4535C>G (p.Pro1512Arg) c.4505C>G (p.Pro1502Arg) c.4430C>G (p.Pro1477Arg) c.4328C>G (p.Pro1443Arg) c.3959C>G (p.Pro1320Arg) | dbSNP |
| 5 | g.112840402C>T | CA16031870 | APC | c.4862C>T (p.Pro1621Leu) c.*4814C>T (n.*4814C>T) c.4754C>T (p.Pro1585Leu) c.4808C>T (p.Pro1603Leu) c.*4130C>T (n.*4130C>T) c.230+11430C>T c.4838C>T (p.Pro1613Leu) c.4733C>T (p.Pro1578Leu) c.4724C>T (p.Pro1575Leu) c.4685C>T (p.Pro1562Leu) c.4631C>T (p.Pro1544Leu) c.4535C>T (p.Pro1512Leu) c.4505C>T (p.Pro1502Leu) c.4430C>T (p.Pro1477Leu) c.4328C>T (p.Pro1443Leu) c.3959C>T (p.Pro1320Leu) | dbSNP |
| 5 | g.112840403A>C | CA446208055 | APC | c.4863A>C (p.Pro1621=) c.*4815A>C (n.*4815A>C) c.4755A>C (p.Pro1585=) c.4809A>C (p.Pro1603=) c.*4131A>C (n.*4131A>C) c.230+11431A>C c.4839A>C (p.Pro1613=) c.4734A>C (p.Pro1578=) c.4725A>C (p.Pro1575=) c.4686A>C (p.Pro1562=) c.4632A>C (p.Pro1544=) c.4536A>C (p.Pro1512=) c.4506A>C (p.Pro1502=) c.4431A>C (p.Pro1477=) c.4329A>C (p.Pro1443=) c.3960A>C (p.Pro1320=) | ClinVar dbSNP |
| 5 | g.112840403A>G | CA446208056 | APC | c.4863A>G (p.Pro1621=) c.*4815A>G (n.*4815A>G) c.4755A>G (p.Pro1585=) c.4809A>G (p.Pro1603=) c.*4131A>G (n.*4131A>G) c.230+11431A>G c.4839A>G (p.Pro1613=) c.4734A>G (p.Pro1578=) c.4725A>G (p.Pro1575=) c.4686A>G (p.Pro1562=) c.4632A>G (p.Pro1544=) c.4536A>G (p.Pro1512=) c.4506A>G (p.Pro1502=) c.4431A>G (p.Pro1477=) c.4329A>G (p.Pro1443=) c.3960A>G (p.Pro1320=) | dbSNP |
| 5 | g.112840403A>T | CA446208057 | APC | c.4863A>T (p.Pro1621=) c.*4815A>T (n.*4815A>T) c.4755A>T (p.Pro1585=) c.4809A>T (p.Pro1603=) c.*4131A>T (n.*4131A>T) c.230+11431A>T c.4839A>T (p.Pro1613=) c.4734A>T (p.Pro1578=) c.4725A>T (p.Pro1575=) c.4686A>T (p.Pro1562=) c.4632A>T (p.Pro1544=) c.4536A>T (p.Pro1512=) c.4506A>T (p.Pro1502=) c.4431A>T (p.Pro1477=) c.4329A>T (p.Pro1443=) c.3960A>T (p.Pro1320=) | dbSNP |
| 5 | g.112840404C>A | CA16031871 | APC | c.4864C>A (p.Pro1622Thr) c.*4816C>A (n.*4816C>A) c.4756C>A (p.Pro1586Thr) c.4810C>A (p.Pro1604Thr) c.*4132C>A (n.*4132C>A) c.230+11432C>A c.4840C>A (p.Pro1614Thr) c.4735C>A (p.Pro1579Thr) c.4726C>A (p.Pro1576Thr) c.4687C>A (p.Pro1563Thr) c.4633C>A (p.Pro1545Thr) c.4537C>A (p.Pro1513Thr) c.4507C>A (p.Pro1503Thr) c.4432C>A (p.Pro1478Thr) c.4330C>A (p.Pro1444Thr) c.3961C>A (p.Pro1321Thr) | dbSNP |
| 5 | g.112840404C= | CA1573471642 | APC | c.4864C= (p.Pro1622=) c.*4816C= (n.*4816C=) c.4756C= (p.Pro1586=) c.4810C= (p.Pro1604=) c.*4132C= (n.*4132C=) c.230+11432C= c.4840C= (p.Pro1614=) c.4735C= (p.Pro1579=) c.4726C= (p.Pro1576=) c.4687C= (p.Pro1563=) c.4633C= (p.Pro1545=) c.4537C= (p.Pro1513=) c.4507C= (p.Pro1503=) c.4432C= (p.Pro1478=) c.4330C= (p.Pro1444=) c.3961C= (p.Pro1321=) | |
| 5 | g.112840404C>G | CA16031872 | APC | c.4864C>G (p.Pro1622Ala) c.*4816C>G (n.*4816C>G) c.4756C>G (p.Pro1586Ala) c.4810C>G (p.Pro1604Ala) c.*4132C>G (n.*4132C>G) c.230+11432C>G c.4840C>G (p.Pro1614Ala) c.4735C>G (p.Pro1579Ala) c.4726C>G (p.Pro1576Ala) c.4687C>G (p.Pro1563Ala) c.4633C>G (p.Pro1545Ala) c.4537C>G (p.Pro1513Ala) c.4507C>G (p.Pro1503Ala) c.4432C>G (p.Pro1478Ala) c.4330C>G (p.Pro1444Ala) c.3961C>G (p.Pro1321Ala) | dbSNP |
| 5 | g.112840404C>T | CA16031873 | APC | c.4864C>T (p.Pro1622Ser) c.*4816C>T (n.*4816C>T) c.4756C>T (p.Pro1586Ser) c.4810C>T (p.Pro1604Ser) c.*4132C>T (n.*4132C>T) c.230+11432C>T c.4840C>T (p.Pro1614Ser) c.4735C>T (p.Pro1579Ser) c.4726C>T (p.Pro1576Ser) c.4687C>T (p.Pro1563Ser) c.4633C>T (p.Pro1545Ser) c.4537C>T (p.Pro1513Ser) c.4507C>T (p.Pro1503Ser) c.4432C>T (p.Pro1478Ser) c.4330C>T (p.Pro1444Ser) c.3961C>T (p.Pro1321Ser) | ClinVar dbSNP gnomAD v4 COSMIC |
| 5 | g.112840405del | CA2497029996 | APC | c.4865del (p.Pro1622LeufsTer?) c.*4817del (n.*4817del) c.4757del (p.Pro1586LeufsTer?) c.4811del (p.Pro1604LeufsTer?) c.*4133del (n.*4133del) c.230+11433del c.4841del (p.Pro1614LeufsTer?) c.4736del (p.Pro1579LeufsTer?) c.4727del (p.Pro1576LeufsTer?) c.4688del (p.Pro1563LeufsTer?) c.4634del (p.Pro1545LeufsTer?) c.4538del (p.Pro1513LeufsTer?) c.4508del (p.Pro1503LeufsTer?) c.4433del (p.Pro1478LeufsTer?) c.4331del (p.Pro1444LeufsTer?) c.3962del (p.Pro1321LeufsTer?) | |
| 5 | g.112840405C>A | CA16031874 | APC | c.4865C>A (p.Pro1622His) c.*4817C>A (n.*4817C>A) c.4757C>A (p.Pro1586His) c.4811C>A (p.Pro1604His) c.*4133C>A (n.*4133C>A) c.230+11433C>A c.4841C>A (p.Pro1614His) c.4736C>A (p.Pro1579His) c.4727C>A (p.Pro1576His) c.4688C>A (p.Pro1563His) c.4634C>A (p.Pro1545His) c.4538C>A (p.Pro1513His) c.4508C>A (p.Pro1503His) c.4433C>A (p.Pro1478His) c.4331C>A (p.Pro1444His) c.3962C>A (p.Pro1321His) | dbSNP |
| 5 | g.112840405C= | CA1573471647 | APC | c.4865C= (p.Pro1622=) c.*4817C= (n.*4817C=) c.4757C= (p.Pro1586=) c.4811C= (p.Pro1604=) c.*4133C= (n.*4133C=) c.230+11433C= c.4841C= (p.Pro1614=) c.4736C= (p.Pro1579=) c.4727C= (p.Pro1576=) c.4688C= (p.Pro1563=) c.4634C= (p.Pro1545=) c.4538C= (p.Pro1513=) c.4508C= (p.Pro1503=) c.4433C= (p.Pro1478=) c.4331C= (p.Pro1444=) c.3962C= (p.Pro1321=) | |
| 5 | g.112840405C>G | CA10578382 | APC | c.4865C>G (p.Pro1622Arg) c.*4817C>G (n.*4817C>G) c.4757C>G (p.Pro1586Arg) c.4811C>G (p.Pro1604Arg) c.*4133C>G (n.*4133C>G) c.230+11433C>G c.4841C>G (p.Pro1614Arg) c.4736C>G (p.Pro1579Arg) c.4727C>G (p.Pro1576Arg) c.4688C>G (p.Pro1563Arg) c.4634C>G (p.Pro1545Arg) c.4538C>G (p.Pro1513Arg) c.4508C>G (p.Pro1503Arg) c.4433C>G (p.Pro1478Arg) c.4331C>G (p.Pro1444Arg) c.3962C>G (p.Pro1321Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.112840405C>T | CA16031875 | APC | c.4865C>T (p.Pro1622Leu) c.*4817C>T (n.*4817C>T) c.4757C>T (p.Pro1586Leu) c.4811C>T (p.Pro1604Leu) c.*4133C>T (n.*4133C>T) c.230+11433C>T c.4841C>T (p.Pro1614Leu) c.4736C>T (p.Pro1579Leu) c.4727C>T (p.Pro1576Leu) c.4688C>T (p.Pro1563Leu) c.4634C>T (p.Pro1545Leu) c.4538C>T (p.Pro1513Leu) c.4508C>T (p.Pro1503Leu) c.4433C>T (p.Pro1478Leu) c.4331C>T (p.Pro1444Leu) c.3962C>T (p.Pro1321Leu) |