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.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) | ClinVar |
| 5 | g.112840158_112840175dup | CA562217613 | APC | c.4618_4635dup (p.Pro1545_Val1546insLeuArgIleMetProPro) c.*4570_*4587dup (n.*4570_*4587dup) c.4510_4527dup (p.Pro1509_Val1510insLeuArgIleMetProPro) c.4564_4581dup (p.Pro1527_Val1528insLeuArgIleMetProPro) c.*3886_*3903dup (n.*3886_*3903dup) c.230+11186_230+11203dup c.4594_4611dup (p.Pro1537_Val1538insLeuArgIleMetProPro) c.4489_4506dup (p.Pro1502_Val1503insLeuArgIleMetProPro) c.4480_4497dup (p.Pro1499_Val1500insLeuArgIleMetProPro) c.4441_4458dup (p.Pro1486_Val1487insLeuArgIleMetProPro) c.4387_4404dup (p.Pro1468_Val1469insLeuArgIleMetProPro) c.4291_4308dup (p.Pro1436_Val1437insLeuArgIleMetProPro) c.4261_4278dup (p.Pro1426_Val1427insLeuArgIleMetProPro) c.4186_4203dup (p.Pro1401_Val1402insLeuArgIleMetProPro) c.4084_4101dup (p.Pro1367_Val1368insLeuArgIleMetProPro) c.3715_3732dup (p.Pro1244_Val1245insLeuArgIleMetProPro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.112840164_112840170del | CA658760746 | APC | c.4624_4630del (p.Ile1542LeufsTer?) c.*4576_*4582del (n.*4576_*4582del) c.4516_4522del (p.Ile1506LeufsTer?) c.4570_4576del (p.Ile1524LeufsTer?) c.*3892_*3898del (n.*3892_*3898del) c.230+11192_230+11198del c.4600_4606del (p.Ile1534LeufsTer?) c.4495_4501del (p.Ile1499LeufsTer?) c.4486_4492del (p.Ile1496LeufsTer?) c.4447_4453del (p.Ile1483LeufsTer?) c.4393_4399del (p.Ile1465LeufsTer?) c.4297_4303del (p.Ile1433LeufsTer?) c.4267_4273del (p.Ile1423LeufsTer?) c.4192_4198del (p.Ile1398LeufsTer?) c.4090_4096del (p.Ile1364LeufsTer?) c.3721_3727del (p.Ile1241LeufsTer?) | |
| 5 | g.112840169_112840172delinsGCCT | CA1573469826 | APC | c.4629_4632delinsGCCT (p.Met1543=) c.*4581_*4584delinsGCCT (n.*4581_*4584delinsGCCT) c.4521_4524delinsGCCT (p.Met1507=) c.4575_4578delinsGCCT (p.Met1525=) c.*3897_*3900delinsGCCT (n.*3897_*3900delinsGCCT) c.230+11197_230+11200delinsGCCT c.4605_4608delinsGCCT (p.Met1535=) c.4500_4503delinsGCCT (p.Met1500=) c.4491_4494delinsGCCT (p.Met1497=) c.4452_4455delinsGCCT (p.Met1484=) c.4398_4401delinsGCCT (p.Met1466=) c.4302_4305delinsGCCT (p.Met1434=) c.4272_4275delinsGCCT (p.Met1424=) c.4197_4200delinsGCCT (p.Met1399=) c.4095_4098delinsGCCT (p.Met1365=) c.3726_3729delinsGCCT (p.Met1242=) | |
| 5 | g.112840170C>A | CA16031352 | APC | c.4630C>A (p.Pro1544Thr) c.*4582C>A (n.*4582C>A) c.4522C>A (p.Pro1508Thr) c.4576C>A (p.Pro1526Thr) c.*3898C>A (n.*3898C>A) c.230+11198C>A c.4606C>A (p.Pro1536Thr) c.4501C>A (p.Pro1501Thr) c.4492C>A (p.Pro1498Thr) c.4453C>A (p.Pro1485Thr) c.4399C>A (p.Pro1467Thr) c.4303C>A (p.Pro1435Thr) c.4273C>A (p.Pro1425Thr) c.4198C>A (p.Pro1400Thr) c.4096C>A (p.Pro1366Thr) c.3727C>A (p.Pro1243Thr) | dbSNP |
| 5 | g.112840170C= | CA1573469852 | APC | c.4630C= (p.Pro1544=) c.*4582C= (n.*4582C=) c.4522C= (p.Pro1508=) c.4576C= (p.Pro1526=) c.*3898C= (n.*3898C=) c.230+11198C= c.4606C= (p.Pro1536=) c.4501C= (p.Pro1501=) c.4492C= (p.Pro1498=) c.4453C= (p.Pro1485=) c.4399C= (p.Pro1467=) c.4303C= (p.Pro1435=) c.4273C= (p.Pro1425=) c.4198C= (p.Pro1400=) c.4096C= (p.Pro1366=) c.3727C= (p.Pro1243=) | |
| 5 | g.112840170C>G | CA16031353 | APC | c.4630C>G (p.Pro1544Ala) c.*4582C>G (n.*4582C>G) c.4522C>G (p.Pro1508Ala) c.4576C>G (p.Pro1526Ala) c.*3898C>G (n.*3898C>G) c.230+11198C>G c.4606C>G (p.Pro1536Ala) c.4501C>G (p.Pro1501Ala) c.4492C>G (p.Pro1498Ala) c.4453C>G (p.Pro1485Ala) c.4399C>G (p.Pro1467Ala) c.4303C>G (p.Pro1435Ala) c.4273C>G (p.Pro1425Ala) c.4198C>G (p.Pro1400Ala) c.4096C>G (p.Pro1366Ala) c.3727C>G (p.Pro1243Ala) | dbSNP |
| 5 | g.112840170C>T | CA16031354 | APC | c.4630C>T (p.Pro1544Ser) c.*4582C>T (n.*4582C>T) c.4522C>T (p.Pro1508Ser) c.4576C>T (p.Pro1526Ser) c.*3898C>T (n.*3898C>T) c.230+11198C>T c.4606C>T (p.Pro1536Ser) c.4501C>T (p.Pro1501Ser) c.4492C>T (p.Pro1498Ser) c.4453C>T (p.Pro1485Ser) c.4399C>T (p.Pro1467Ser) c.4303C>T (p.Pro1435Ser) c.4273C>T (p.Pro1425Ser) c.4198C>T (p.Pro1400Ser) c.4096C>T (p.Pro1366Ser) c.3727C>T (p.Pro1243Ser) | ClinVar dbSNP COSMIC |
| 5 | g.112840172_112840174del | CA658655946 | APC | c.4632_4634del (p.Pro1545del) c.*4584_*4586del (n.*4584_*4586del) c.4524_4526del (p.Pro1509del) c.4578_4580del (p.Pro1527del) c.*3900_*3902del (n.*3900_*3902del) c.230+11200_230+11202del c.4608_4610del (p.Pro1537del) c.4503_4505del (p.Pro1502del) c.4494_4496del (p.Pro1499del) c.4455_4457del (p.Pro1486del) c.4401_4403del (p.Pro1468del) c.4305_4307del (p.Pro1436del) c.4275_4277del (p.Pro1426del) c.4200_4202del (p.Pro1401del) c.4098_4100del (p.Pro1367del) c.3729_3731del (p.Pro1244del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.112840171C>A | CA16031355 | APC | c.4631C>A (p.Pro1544His) c.*4583C>A (n.*4583C>A) c.4523C>A (p.Pro1508His) c.4577C>A (p.Pro1526His) c.*3899C>A (n.*3899C>A) c.230+11199C>A c.4607C>A (p.Pro1536His) c.4502C>A (p.Pro1501His) c.4493C>A (p.Pro1498His) c.4454C>A (p.Pro1485His) c.4400C>A (p.Pro1467His) c.4304C>A (p.Pro1435His) c.4274C>A (p.Pro1425His) c.4199C>A (p.Pro1400His) c.4097C>A (p.Pro1366His) c.3728C>A (p.Pro1243His) | dbSNP |
| 5 | g.112840171C= | CA1573469869 | APC | c.4631C= (p.Pro1544=) c.*4583C= (n.*4583C=) c.4523C= (p.Pro1508=) c.4577C= (p.Pro1526=) c.*3899C= (n.*3899C=) c.230+11199C= c.4607C= (p.Pro1536=) c.4502C= (p.Pro1501=) c.4493C= (p.Pro1498=) c.4454C= (p.Pro1485=) c.4400C= (p.Pro1467=) c.4304C= (p.Pro1435=) c.4274C= (p.Pro1425=) c.4199C= (p.Pro1400=) c.4097C= (p.Pro1366=) c.3728C= (p.Pro1243=) | |
| 5 | g.112840171C>G | CA16031356 | APC | c.4631C>G (p.Pro1544Arg) c.*4583C>G (n.*4583C>G) c.4523C>G (p.Pro1508Arg) c.4577C>G (p.Pro1526Arg) c.*3899C>G (n.*3899C>G) c.230+11199C>G c.4607C>G (p.Pro1536Arg) c.4502C>G (p.Pro1501Arg) c.4493C>G (p.Pro1498Arg) c.4454C>G (p.Pro1485Arg) c.4400C>G (p.Pro1467Arg) c.4304C>G (p.Pro1435Arg) c.4274C>G (p.Pro1425Arg) c.4199C>G (p.Pro1400Arg) c.4097C>G (p.Pro1366Arg) c.3728C>G (p.Pro1243Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.112840171C>T | CA16031357 | APC | c.4631C>T (p.Pro1544Leu) c.*4583C>T (n.*4583C>T) c.4523C>T (p.Pro1508Leu) c.4577C>T (p.Pro1526Leu) c.*3899C>T (n.*3899C>T) c.230+11199C>T c.4607C>T (p.Pro1536Leu) c.4502C>T (p.Pro1501Leu) c.4493C>T (p.Pro1498Leu) c.4454C>T (p.Pro1485Leu) c.4400C>T (p.Pro1467Leu) c.4304C>T (p.Pro1435Leu) c.4274C>T (p.Pro1425Leu) c.4199C>T (p.Pro1400Leu) c.4097C>T (p.Pro1366Leu) c.3728C>T (p.Pro1243Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.112840172T>A | CA446206597 | APC | c.4632T>A (p.Pro1544=) c.*4584T>A (n.*4584T>A) c.4524T>A (p.Pro1508=) c.4578T>A (p.Pro1526=) c.*3900T>A (n.*3900T>A) c.230+11200T>A c.4608T>A (p.Pro1536=) c.4503T>A (p.Pro1501=) c.4494T>A (p.Pro1498=) c.4455T>A (p.Pro1485=) c.4401T>A (p.Pro1467=) c.4305T>A (p.Pro1435=) c.4275T>A (p.Pro1425=) c.4200T>A (p.Pro1400=) c.4098T>A (p.Pro1366=) c.3729T>A (p.Pro1243=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.112840172T>C | CA446206598 | APC | c.4632T>C (p.Pro1544=) c.*4584T>C (n.*4584T>C) c.4524T>C (p.Pro1508=) c.4578T>C (p.Pro1526=) c.*3900T>C (n.*3900T>C) c.230+11200T>C c.4608T>C (p.Pro1536=) c.4503T>C (p.Pro1501=) c.4494T>C (p.Pro1498=) c.4455T>C (p.Pro1485=) c.4401T>C (p.Pro1467=) c.4305T>C (p.Pro1435=) c.4275T>C (p.Pro1425=) c.4200T>C (p.Pro1400=) c.4098T>C (p.Pro1366=) c.3729T>C (p.Pro1243=) | |
| 5 | g.112840172T>G | CA446206599 | APC | c.4632T>G (p.Pro1544=) c.*4584T>G (n.*4584T>G) c.4524T>G (p.Pro1508=) c.4578T>G (p.Pro1526=) c.*3900T>G (n.*3900T>G) c.230+11200T>G c.4608T>G (p.Pro1536=) c.4503T>G (p.Pro1501=) c.4494T>G (p.Pro1498=) c.4455T>G (p.Pro1485=) c.4401T>G (p.Pro1467=) c.4305T>G (p.Pro1435=) c.4275T>G (p.Pro1425=) c.4200T>G (p.Pro1400=) c.4098T>G (p.Pro1366=) c.3729T>G (p.Pro1243=) | |
| 5 | g.112840172T= | CA1573469875 | APC | c.4632T= (p.Pro1544=) c.*4584T= (n.*4584T=) c.4524T= (p.Pro1508=) c.4578T= (p.Pro1526=) c.*3900T= (n.*3900T=) c.230+11200T= c.4608T= (p.Pro1536=) c.4503T= (p.Pro1501=) c.4494T= (p.Pro1498=) c.4455T= (p.Pro1485=) c.4401T= (p.Pro1467=) c.4305T= (p.Pro1435=) c.4275T= (p.Pro1425=) c.4200T= (p.Pro1400=) c.4098T= (p.Pro1366=) c.3729T= (p.Pro1243=) | |
| 5 | g.112840173C>A | CA16031358 | APC | c.4633C>A (p.Pro1545Thr) c.*4585C>A (n.*4585C>A) c.4525C>A (p.Pro1509Thr) c.4579C>A (p.Pro1527Thr) c.*3901C>A (n.*3901C>A) c.230+11201C>A c.4609C>A (p.Pro1537Thr) c.4504C>A (p.Pro1502Thr) c.4495C>A (p.Pro1499Thr) c.4456C>A (p.Pro1486Thr) c.4402C>A (p.Pro1468Thr) c.4306C>A (p.Pro1436Thr) c.4276C>A (p.Pro1426Thr) c.4201C>A (p.Pro1401Thr) c.4099C>A (p.Pro1367Thr) c.3730C>A (p.Pro1244Thr) | dbSNP |
| 5 | g.112840173C>G | CA16031359 | APC | c.4633C>G (p.Pro1545Ala) c.*4585C>G (n.*4585C>G) c.4525C>G (p.Pro1509Ala) c.4579C>G (p.Pro1527Ala) c.*3901C>G (n.*3901C>G) c.230+11201C>G c.4609C>G (p.Pro1537Ala) c.4504C>G (p.Pro1502Ala) c.4495C>G (p.Pro1499Ala) c.4456C>G (p.Pro1486Ala) c.4402C>G (p.Pro1468Ala) c.4306C>G (p.Pro1436Ala) c.4276C>G (p.Pro1426Ala) c.4201C>G (p.Pro1401Ala) c.4099C>G (p.Pro1367Ala) c.3730C>G (p.Pro1244Ala) | |
| 5 | g.112840173C>T | CA16031360 | APC | c.4633C>T (p.Pro1545Ser) c.*4585C>T (n.*4585C>T) c.4525C>T (p.Pro1509Ser) c.4579C>T (p.Pro1527Ser) c.*3901C>T (n.*3901C>T) c.230+11201C>T c.4609C>T (p.Pro1537Ser) c.4504C>T (p.Pro1502Ser) c.4495C>T (p.Pro1499Ser) c.4456C>T (p.Pro1486Ser) c.4402C>T (p.Pro1468Ser) c.4306C>T (p.Pro1436Ser) c.4276C>T (p.Pro1426Ser) c.4201C>T (p.Pro1401Ser) c.4099C>T (p.Pro1367Ser) c.3730C>T (p.Pro1244Ser) | dbSNP |
| 5 | g.112840173_112840178delinsCCAGTT | CA1573469882 | APC | c.4633_4638delinsCCAGTT (p.Pro1545=) c.*4585_*4590delinsCCAGTT (n.*4585_*4590delinsCCAGTT) c.4525_4530delinsCCAGTT (p.Pro1509=) c.4579_4584delinsCCAGTT (p.Pro1527=) c.*3901_*3906delinsCCAGTT (n.*3901_*3906delinsCCAGTT) c.230+11201_230+11206delinsCCAGTT c.4609_4614delinsCCAGTT (p.Pro1537=) c.4504_4509delinsCCAGTT (p.Pro1502=) c.4495_4500delinsCCAGTT (p.Pro1499=) c.4456_4461delinsCCAGTT (p.Pro1486=) c.4402_4407delinsCCAGTT (p.Pro1468=) c.4306_4311delinsCCAGTT (p.Pro1436=) c.4276_4281delinsCCAGTT (p.Pro1426=) c.4201_4206delinsCCAGTT (p.Pro1401=) c.4099_4104delinsCCAGTT (p.Pro1367=) c.3730_3735delinsCCAGTT (p.Pro1244=) | |
| 5 | g.112840174C>A | CA16031361 | APC | c.4634C>A (p.Pro1545Gln) c.*4586C>A (n.*4586C>A) c.4526C>A (p.Pro1509Gln) c.4580C>A (p.Pro1527Gln) c.*3902C>A (n.*3902C>A) c.230+11202C>A c.4610C>A (p.Pro1537Gln) c.4505C>A (p.Pro1502Gln) c.4496C>A (p.Pro1499Gln) c.4457C>A (p.Pro1486Gln) c.4403C>A (p.Pro1468Gln) c.4307C>A (p.Pro1436Gln) c.4277C>A (p.Pro1426Gln) c.4202C>A (p.Pro1401Gln) c.4100C>A (p.Pro1367Gln) c.3731C>A (p.Pro1244Gln) | dbSNP |
| 5 | g.112840174C= | CA1573469891 | APC | c.4634C= (p.Pro1545=) c.*4586C= (n.*4586C=) c.4526C= (p.Pro1509=) c.4580C= (p.Pro1527=) c.*3902C= (n.*3902C=) c.230+11202C= c.4610C= (p.Pro1537=) c.4505C= (p.Pro1502=) c.4496C= (p.Pro1499=) c.4457C= (p.Pro1486=) c.4403C= (p.Pro1468=) c.4307C= (p.Pro1436=) c.4277C= (p.Pro1426=) c.4202C= (p.Pro1401=) c.4100C= (p.Pro1367=) c.3731C= (p.Pro1244=) | |
| 5 | g.112840174C>G | CA16031362 | APC | c.4634C>G (p.Pro1545Arg) c.*4586C>G (n.*4586C>G) c.4526C>G (p.Pro1509Arg) c.4580C>G (p.Pro1527Arg) c.*3902C>G (n.*3902C>G) c.230+11202C>G c.4610C>G (p.Pro1537Arg) c.4505C>G (p.Pro1502Arg) c.4496C>G (p.Pro1499Arg) c.4457C>G (p.Pro1486Arg) c.4403C>G (p.Pro1468Arg) c.4307C>G (p.Pro1436Arg) c.4277C>G (p.Pro1426Arg) c.4202C>G (p.Pro1401Arg) c.4100C>G (p.Pro1367Arg) c.3731C>G (p.Pro1244Arg) | dbSNP |
| 5 | g.112840174C>T | CA039410 | APC | c.4634C>T (p.Pro1545Leu) c.*4586C>T (n.*4586C>T) c.4526C>T (p.Pro1509Leu) c.4580C>T (p.Pro1527Leu) c.*3902C>T (n.*3902C>T) c.230+11202C>T c.4610C>T (p.Pro1537Leu) c.4505C>T (p.Pro1502Leu) c.4496C>T (p.Pro1499Leu) c.4457C>T (p.Pro1486Leu) c.4403C>T (p.Pro1468Leu) c.4307C>T (p.Pro1436Leu) c.4277C>T (p.Pro1426Leu) c.4202C>T (p.Pro1401Leu) c.4100C>T (p.Pro1367Leu) c.3731C>T (p.Pro1244Leu) | ClinVar dbSNP ExAC gnomAD v4 |
| 5 | g.112840177_112840181del | CA915943494 | APC | c.4637_4641del (p.Val1546GlyfsTer3) c.*4589_*4593del (n.*4589_*4593del) c.4529_4533del (p.Val1510GlyfsTer3) c.4583_4587del (p.Val1528GlyfsTer3) c.*3905_*3909del (n.*3905_*3909del) c.230+11205_230+11209del c.4613_4617del (p.Val1538GlyfsTer3) c.4508_4512del (p.Val1503GlyfsTer3) c.4499_4503del (p.Val1500GlyfsTer3) c.4460_4464del (p.Val1487GlyfsTer3) c.4406_4410del (p.Val1469GlyfsTer3) c.4310_4314del (p.Val1437GlyfsTer3) c.4280_4284del (p.Val1427GlyfsTer3) c.4205_4209del (p.Val1402GlyfsTer3) c.4103_4107del (p.Val1368GlyfsTer3) c.3734_3738del (p.Val1245GlyfsTer3) | ClinVar dbSNP |
| 5 | g.112840175A>C | CA446206600 | APC | c.4635A>C (p.Pro1545=) c.*4587A>C (n.*4587A>C) c.4527A>C (p.Pro1509=) c.4581A>C (p.Pro1527=) c.*3903A>C (n.*3903A>C) c.230+11203A>C c.4611A>C (p.Pro1537=) c.4506A>C (p.Pro1502=) c.4497A>C (p.Pro1499=) c.4458A>C (p.Pro1486=) c.4404A>C (p.Pro1468=) c.4308A>C (p.Pro1436=) c.4278A>C (p.Pro1426=) c.4203A>C (p.Pro1401=) c.4101A>C (p.Pro1367=) c.3732A>C (p.Pro1244=) | ClinVar |
| 5 | g.112840175A>G | CA446206601 | APC | c.4635A>G (p.Pro1545=) c.*4587A>G (n.*4587A>G) c.4527A>G (p.Pro1509=) c.4581A>G (p.Pro1527=) c.*3903A>G (n.*3903A>G) c.230+11203A>G c.4611A>G (p.Pro1537=) c.4506A>G (p.Pro1502=) c.4497A>G (p.Pro1499=) c.4458A>G (p.Pro1486=) c.4404A>G (p.Pro1468=) c.4308A>G (p.Pro1436=) c.4278A>G (p.Pro1426=) c.4203A>G (p.Pro1401=) c.4101A>G (p.Pro1367=) c.3732A>G (p.Pro1244=) | dbSNP |
| 5 | g.112840175A>T | CA446206602 | APC | c.4635A>T (p.Pro1545=) c.*4587A>T (n.*4587A>T) c.4527A>T (p.Pro1509=) c.4581A>T (p.Pro1527=) c.*3903A>T (n.*3903A>T) c.230+11203A>T c.4611A>T (p.Pro1537=) c.4506A>T (p.Pro1502=) c.4497A>T (p.Pro1499=) c.4458A>T (p.Pro1486=) c.4404A>T (p.Pro1468=) c.4308A>T (p.Pro1436=) c.4278A>T (p.Pro1426=) c.4203A>T (p.Pro1401=) c.4101A>T (p.Pro1367=) c.3732A>T (p.Pro1244=) | dbSNP |
| 5 | g.112840176G>A | CA16031363 | APC | c.4636G>A (p.Val1546Ile) c.*4588G>A (n.*4588G>A) c.4528G>A (p.Val1510Ile) c.4582G>A (p.Val1528Ile) c.*3904G>A (n.*3904G>A) c.230+11204G>A c.4612G>A (p.Val1538Ile) c.4507G>A (p.Val1503Ile) c.4498G>A (p.Val1500Ile) c.4459G>A (p.Val1487Ile) c.4405G>A (p.Val1469Ile) c.4309G>A (p.Val1437Ile) c.4279G>A (p.Val1427Ile) c.4204G>A (p.Val1402Ile) c.4102G>A (p.Val1368Ile) c.3733G>A (p.Val1245Ile) | dbSNP gnomAD v2 |
| 5 | g.112840176G>C | CA16031364 | APC | c.4636G>C (p.Val1546Leu) c.*4588G>C (n.*4588G>C) c.4528G>C (p.Val1510Leu) c.4582G>C (p.Val1528Leu) c.*3904G>C (n.*3904G>C) c.230+11204G>C c.4612G>C (p.Val1538Leu) c.4507G>C (p.Val1503Leu) c.4498G>C (p.Val1500Leu) c.4459G>C (p.Val1487Leu) c.4405G>C (p.Val1469Leu) c.4309G>C (p.Val1437Leu) c.4279G>C (p.Val1427Leu) c.4204G>C (p.Val1402Leu) c.4102G>C (p.Val1368Leu) c.3733G>C (p.Val1245Leu) | dbSNP |
| 5 | g.112840176G= | CA1573469902 | APC | c.4636G= (p.Val1546=) c.*4588G= (n.*4588G=) c.4528G= (p.Val1510=) c.4582G= (p.Val1528=) c.*3904G= (n.*3904G=) c.230+11204G= c.4612G= (p.Val1538=) c.4507G= (p.Val1503=) c.4498G= (p.Val1500=) c.4459G= (p.Val1487=) c.4405G= (p.Val1469=) c.4309G= (p.Val1437=) c.4279G= (p.Val1427=) c.4204G= (p.Val1402=) c.4102G= (p.Val1368=) c.3733G= (p.Val1245=) | |
| 5 | g.112840176G>T | CA16031365 | APC | c.4636G>T (p.Val1546Phe) c.*4588G>T (n.*4588G>T) c.4528G>T (p.Val1510Phe) c.4582G>T (p.Val1528Phe) c.*3904G>T (n.*3904G>T) c.230+11204G>T c.4612G>T (p.Val1538Phe) c.4507G>T (p.Val1503Phe) c.4498G>T (p.Val1500Phe) c.4459G>T (p.Val1487Phe) c.4405G>T (p.Val1469Phe) c.4309G>T (p.Val1437Phe) c.4279G>T (p.Val1427Phe) c.4204G>T (p.Val1402Phe) c.4102G>T (p.Val1368Phe) c.3733G>T (p.Val1245Phe) | dbSNP |
| 5 | g.112840177T>A | CA16031366 | APC | c.4637T>A (p.Val1546Asp) c.*4589T>A (n.*4589T>A) c.4529T>A (p.Val1510Asp) c.4583T>A (p.Val1528Asp) c.*3905T>A (n.*3905T>A) c.230+11205T>A c.4613T>A (p.Val1538Asp) c.4508T>A (p.Val1503Asp) c.4499T>A (p.Val1500Asp) c.4460T>A (p.Val1487Asp) c.4406T>A (p.Val1469Asp) c.4310T>A (p.Val1437Asp) c.4280T>A (p.Val1427Asp) c.4205T>A (p.Val1402Asp) c.4103T>A (p.Val1368Asp) c.3734T>A (p.Val1245Asp) | dbSNP |
| 5 | g.112840177T>C | CA16031367 | APC | c.4637T>C (p.Val1546Ala) c.*4589T>C (n.*4589T>C) c.4529T>C (p.Val1510Ala) c.4583T>C (p.Val1528Ala) c.*3905T>C (n.*3905T>C) c.230+11205T>C c.4613T>C (p.Val1538Ala) c.4508T>C (p.Val1503Ala) c.4499T>C (p.Val1500Ala) c.4460T>C (p.Val1487Ala) c.4406T>C (p.Val1469Ala) c.4310T>C (p.Val1437Ala) c.4280T>C (p.Val1427Ala) c.4205T>C (p.Val1402Ala) c.4103T>C (p.Val1368Ala) c.3734T>C (p.Val1245Ala) | ClinVar dbSNP |
| 5 | g.112840177T>G | CA16031368 | APC | c.4637T>G (p.Val1546Gly) c.*4589T>G (n.*4589T>G) c.4529T>G (p.Val1510Gly) c.4583T>G (p.Val1528Gly) c.*3905T>G (n.*3905T>G) c.230+11205T>G c.4613T>G (p.Val1538Gly) c.4508T>G (p.Val1503Gly) c.4499T>G (p.Val1500Gly) c.4460T>G (p.Val1487Gly) c.4406T>G (p.Val1469Gly) c.4310T>G (p.Val1437Gly) c.4280T>G (p.Val1427Gly) c.4205T>G (p.Val1402Gly) c.4103T>G (p.Val1368Gly) c.3734T>G (p.Val1245Gly) | ClinVar dbSNP |
| 5 | g.112840177T= | CA1573469910 | APC | c.4637T= (p.Val1546=) c.*4589T= (n.*4589T=) c.4529T= (p.Val1510=) c.4583T= (p.Val1528=) c.*3905T= (n.*3905T=) c.230+11205T= c.4613T= (p.Val1538=) c.4508T= (p.Val1503=) c.4499T= (p.Val1500=) c.4460T= (p.Val1487=) c.4406T= (p.Val1469=) c.4310T= (p.Val1437=) c.4280T= (p.Val1427=) c.4205T= (p.Val1402=) c.4103T= (p.Val1368=) c.3734T= (p.Val1245=) | |
| 5 | g.112840178T>A | CA446206603 | APC | c.4638T>A (p.Val1546=) c.*4590T>A (n.*4590T>A) c.4530T>A (p.Val1510=) c.4584T>A (p.Val1528=) c.*3906T>A (n.*3906T>A) c.230+11206T>A c.4614T>A (p.Val1538=) c.4509T>A (p.Val1503=) c.4500T>A (p.Val1500=) c.4461T>A (p.Val1487=) c.4407T>A (p.Val1469=) c.4311T>A (p.Val1437=) c.4281T>A (p.Val1427=) c.4206T>A (p.Val1402=) c.4104T>A (p.Val1368=) c.3735T>A (p.Val1245=) | dbSNP |
| 5 | g.112840178T>C | CA446206604 | APC | c.4638T>C (p.Val1546=) c.*4590T>C (n.*4590T>C) c.4530T>C (p.Val1510=) c.4584T>C (p.Val1528=) c.*3906T>C (n.*3906T>C) c.230+11206T>C c.4614T>C (p.Val1538=) c.4509T>C (p.Val1503=) c.4500T>C (p.Val1500=) c.4461T>C (p.Val1487=) c.4407T>C (p.Val1469=) c.4311T>C (p.Val1437=) c.4281T>C (p.Val1427=) c.4206T>C (p.Val1402=) c.4104T>C (p.Val1368=) c.3735T>C (p.Val1245=) | |
| 5 | g.112840178T>G | CA446206605 | APC | c.4638T>G (p.Val1546=) c.*4590T>G (n.*4590T>G) c.4530T>G (p.Val1510=) c.4584T>G (p.Val1528=) c.*3906T>G (n.*3906T>G) c.230+11206T>G c.4614T>G (p.Val1538=) c.4509T>G (p.Val1503=) c.4500T>G (p.Val1500=) c.4461T>G (p.Val1487=) c.4407T>G (p.Val1469=) c.4311T>G (p.Val1437=) c.4281T>G (p.Val1427=) c.4206T>G (p.Val1402=) c.4104T>G (p.Val1368=) c.3735T>G (p.Val1245=) | dbSNP |
| 5 | g.112840179C>A | CA16031369 | APC | c.4639C>A (p.Gln1547Lys) c.*4591C>A (n.*4591C>A) c.4531C>A (p.Gln1511Lys) c.4585C>A (p.Gln1529Lys) c.*3907C>A (n.*3907C>A) c.230+11207C>A c.4615C>A (p.Gln1539Lys) c.4510C>A (p.Gln1504Lys) c.4501C>A (p.Gln1501Lys) c.4462C>A (p.Gln1488Lys) c.4408C>A (p.Gln1470Lys) c.4312C>A (p.Gln1438Lys) c.4282C>A (p.Gln1428Lys) c.4207C>A (p.Gln1403Lys) c.4105C>A (p.Gln1369Lys) c.3736C>A (p.Gln1246Lys) | ClinVar dbSNP |
| 5 | g.112840179C= | CA1573469919 | APC | c.4639C= (p.Gln1547=) c.*4591C= (n.*4591C=) c.4531C= (p.Gln1511=) c.4585C= (p.Gln1529=) c.*3907C= (n.*3907C=) c.230+11207C= c.4615C= (p.Gln1539=) c.4510C= (p.Gln1504=) c.4501C= (p.Gln1501=) c.4462C= (p.Gln1488=) c.4408C= (p.Gln1470=) c.4312C= (p.Gln1438=) c.4282C= (p.Gln1428=) c.4207C= (p.Gln1403=) c.4105C= (p.Gln1369=) c.3736C= (p.Gln1246=) | |
| 5 | g.112840179C>G | CA16031370 | APC | c.4639C>G (p.Gln1547Glu) c.*4591C>G (n.*4591C>G) c.4531C>G (p.Gln1511Glu) c.4585C>G (p.Gln1529Glu) c.*3907C>G (n.*3907C>G) c.230+11207C>G c.4615C>G (p.Gln1539Glu) c.4510C>G (p.Gln1504Glu) c.4501C>G (p.Gln1501Glu) c.4462C>G (p.Gln1488Glu) c.4408C>G (p.Gln1470Glu) c.4312C>G (p.Gln1438Glu) c.4282C>G (p.Gln1428Glu) c.4207C>G (p.Gln1403Glu) c.4105C>G (p.Gln1369Glu) c.3736C>G (p.Gln1246Glu) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112840179C>T | CA16031371 | APC | c.4639C>T (p.Gln1547Ter) c.*4591C>T (n.*4591C>T) c.4531C>T (p.Gln1511Ter) c.4585C>T (p.Gln1529Ter) c.*3907C>T (n.*3907C>T) c.230+11207C>T c.4615C>T (p.Gln1539Ter) c.4510C>T (p.Gln1504Ter) c.4501C>T (p.Gln1501Ter) c.4462C>T (p.Gln1488Ter) c.4408C>T (p.Gln1470Ter) c.4312C>T (p.Gln1438Ter) c.4282C>T (p.Gln1428Ter) c.4207C>T (p.Gln1403Ter) c.4105C>T (p.Gln1369Ter) c.3736C>T (p.Gln1246Ter) | ClinVar dbSNP COSMIC |
| 5 | g.112840180A= | CA1573469926 | APC | c.4640A= (p.Gln1547=) c.*4592A= (n.*4592A=) c.4532A= (p.Gln1511=) c.4586A= (p.Gln1529=) c.*3908A= (n.*3908A=) c.230+11208A= c.4616A= (p.Gln1539=) c.4511A= (p.Gln1504=) c.4502A= (p.Gln1501=) c.4463A= (p.Gln1488=) c.4409A= (p.Gln1470=) c.4313A= (p.Gln1438=) c.4283A= (p.Gln1428=) c.4208A= (p.Gln1403=) c.4106A= (p.Gln1369=) c.3737A= (p.Gln1246=) | |
| 5 | g.112840180A>C | CA16031372 | APC | c.4640A>C (p.Gln1547Pro) c.*4592A>C (n.*4592A>C) c.4532A>C (p.Gln1511Pro) c.4586A>C (p.Gln1529Pro) c.*3908A>C (n.*3908A>C) c.230+11208A>C c.4616A>C (p.Gln1539Pro) c.4511A>C (p.Gln1504Pro) c.4502A>C (p.Gln1501Pro) c.4463A>C (p.Gln1488Pro) c.4409A>C (p.Gln1470Pro) c.4313A>C (p.Gln1438Pro) c.4283A>C (p.Gln1428Pro) c.4208A>C (p.Gln1403Pro) c.4106A>C (p.Gln1369Pro) c.3737A>C (p.Gln1246Pro) | |
| 5 | g.112840180A>G | CA16031373 | APC | c.4640A>G (p.Gln1547Arg) c.*4592A>G (n.*4592A>G) c.4532A>G (p.Gln1511Arg) c.4586A>G (p.Gln1529Arg) c.*3908A>G (n.*3908A>G) c.230+11208A>G c.4616A>G (p.Gln1539Arg) c.4511A>G (p.Gln1504Arg) c.4502A>G (p.Gln1501Arg) c.4463A>G (p.Gln1488Arg) c.4409A>G (p.Gln1470Arg) c.4313A>G (p.Gln1438Arg) c.4283A>G (p.Gln1428Arg) c.4208A>G (p.Gln1403Arg) c.4106A>G (p.Gln1369Arg) c.3737A>G (p.Gln1246Arg) | ClinVar dbSNP |