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.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.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) | |
| 5 | g.112840406T>A | CA446208058 | APC | c.4866T>A (p.Pro1622=) c.*4818T>A (n.*4818T>A) c.4758T>A (p.Pro1586=) c.4812T>A (p.Pro1604=) c.*4134T>A (n.*4134T>A) c.230+11434T>A c.4842T>A (p.Pro1614=) c.4737T>A (p.Pro1579=) c.4728T>A (p.Pro1576=) c.4689T>A (p.Pro1563=) c.4635T>A (p.Pro1545=) c.4539T>A (p.Pro1513=) c.4509T>A (p.Pro1503=) c.4434T>A (p.Pro1478=) c.4332T>A (p.Pro1444=) c.3963T>A (p.Pro1321=) | dbSNP |
| 5 | g.112840406T>C | CA446208059 | APC | c.4866T>C (p.Pro1622=) c.*4818T>C (n.*4818T>C) c.4758T>C (p.Pro1586=) c.4812T>C (p.Pro1604=) c.*4134T>C (n.*4134T>C) c.230+11434T>C c.4842T>C (p.Pro1614=) c.4737T>C (p.Pro1579=) c.4728T>C (p.Pro1576=) c.4689T>C (p.Pro1563=) c.4635T>C (p.Pro1545=) c.4539T>C (p.Pro1513=) c.4509T>C (p.Pro1503=) c.4434T>C (p.Pro1478=) c.4332T>C (p.Pro1444=) c.3963T>C (p.Pro1321=) | dbSNP |
| 5 | g.112840406T>G | CA446208060 | APC | c.4866T>G (p.Pro1622=) c.*4818T>G (n.*4818T>G) c.4758T>G (p.Pro1586=) c.4812T>G (p.Pro1604=) c.*4134T>G (n.*4134T>G) c.230+11434T>G c.4842T>G (p.Pro1614=) c.4737T>G (p.Pro1579=) c.4728T>G (p.Pro1576=) c.4689T>G (p.Pro1563=) c.4635T>G (p.Pro1545=) c.4539T>G (p.Pro1513=) c.4509T>G (p.Pro1503=) c.4434T>G (p.Pro1478=) c.4332T>G (p.Pro1444=) c.3963T>G (p.Pro1321=) | |
| 5 | g.112840407G>A | CA16031876 | APC | c.4867G>A (p.Val1623Met) c.*4819G>A (n.*4819G>A) c.4759G>A (p.Val1587Met) c.4813G>A (p.Val1605Met) c.*4135G>A (n.*4135G>A) c.230+11435G>A c.4843G>A (p.Val1615Met) c.4738G>A (p.Val1580Met) c.4729G>A (p.Val1577Met) c.4690G>A (p.Val1564Met) c.4636G>A (p.Val1546Met) c.4540G>A (p.Val1514Met) c.4510G>A (p.Val1504Met) c.4435G>A (p.Val1479Met) c.4333G>A (p.Val1445Met) c.3964G>A (p.Val1322Met) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112840407G>C | CA16031877 | APC | c.4867G>C (p.Val1623Leu) c.*4819G>C (n.*4819G>C) c.4759G>C (p.Val1587Leu) c.4813G>C (p.Val1605Leu) c.*4135G>C (n.*4135G>C) c.230+11435G>C c.4843G>C (p.Val1615Leu) c.4738G>C (p.Val1580Leu) c.4729G>C (p.Val1577Leu) c.4690G>C (p.Val1564Leu) c.4636G>C (p.Val1546Leu) c.4540G>C (p.Val1514Leu) c.4510G>C (p.Val1504Leu) c.4435G>C (p.Val1479Leu) c.4333G>C (p.Val1445Leu) c.3964G>C (p.Val1322Leu) | ClinVar dbSNP |
| 5 | g.112840407G= | CA1573471664 | APC | c.4867G= (p.Val1623=) c.*4819G= (n.*4819G=) c.4759G= (p.Val1587=) c.4813G= (p.Val1605=) c.*4135G= (n.*4135G=) c.230+11435G= c.4843G= (p.Val1615=) c.4738G= (p.Val1580=) c.4729G= (p.Val1577=) c.4690G= (p.Val1564=) c.4636G= (p.Val1546=) c.4540G= (p.Val1514=) c.4510G= (p.Val1504=) c.4435G= (p.Val1479=) c.4333G= (p.Val1445=) c.3964G= (p.Val1322=) | |
| 5 | g.112840407G>T | CA16031878 | APC | c.4867G>T (p.Val1623Leu) c.*4819G>T (n.*4819G>T) c.4759G>T (p.Val1587Leu) c.4813G>T (p.Val1605Leu) c.*4135G>T (n.*4135G>T) c.230+11435G>T c.4843G>T (p.Val1615Leu) c.4738G>T (p.Val1580Leu) c.4729G>T (p.Val1577Leu) c.4690G>T (p.Val1564Leu) c.4636G>T (p.Val1546Leu) c.4540G>T (p.Val1514Leu) c.4510G>T (p.Val1504Leu) c.4435G>T (p.Val1479Leu) c.4333G>T (p.Val1445Leu) c.3964G>T (p.Val1322Leu) | dbSNP |
| 5 | g.112840408T>A | CA16031879 | APC | c.4868T>A (p.Val1623Glu) c.*4820T>A (n.*4820T>A) c.4760T>A (p.Val1587Glu) c.4814T>A (p.Val1605Glu) c.*4136T>A (n.*4136T>A) c.230+11436T>A c.4844T>A (p.Val1615Glu) c.4739T>A (p.Val1580Glu) c.4730T>A (p.Val1577Glu) c.4691T>A (p.Val1564Glu) c.4637T>A (p.Val1546Glu) c.4541T>A (p.Val1514Glu) c.4511T>A (p.Val1504Glu) c.4436T>A (p.Val1479Glu) c.4334T>A (p.Val1445Glu) c.3965T>A (p.Val1322Glu) | |
| 5 | g.112840408T>C | CA16031880 | APC | c.4868T>C (p.Val1623Ala) c.*4820T>C (n.*4820T>C) c.4760T>C (p.Val1587Ala) c.4814T>C (p.Val1605Ala) c.*4136T>C (n.*4136T>C) c.230+11436T>C c.4844T>C (p.Val1615Ala) c.4739T>C (p.Val1580Ala) c.4730T>C (p.Val1577Ala) c.4691T>C (p.Val1564Ala) c.4637T>C (p.Val1546Ala) c.4541T>C (p.Val1514Ala) c.4511T>C (p.Val1504Ala) c.4436T>C (p.Val1479Ala) c.4334T>C (p.Val1445Ala) c.3965T>C (p.Val1322Ala) | ClinVar dbSNP |
| 5 | g.112840408T>G | CA16031881 | APC | c.4868T>G (p.Val1623Gly) c.*4820T>G (n.*4820T>G) c.4760T>G (p.Val1587Gly) c.4814T>G (p.Val1605Gly) c.*4136T>G (n.*4136T>G) c.230+11436T>G c.4844T>G (p.Val1615Gly) c.4739T>G (p.Val1580Gly) c.4730T>G (p.Val1577Gly) c.4691T>G (p.Val1564Gly) c.4637T>G (p.Val1546Gly) c.4541T>G (p.Val1514Gly) c.4511T>G (p.Val1504Gly) c.4436T>G (p.Val1479Gly) c.4334T>G (p.Val1445Gly) c.3965T>G (p.Val1322Gly) | |
| 5 | g.112840408T= | CA1573471673 | APC | c.4868T= (p.Val1623=) c.*4820T= (n.*4820T=) c.4760T= (p.Val1587=) c.4814T= (p.Val1605=) c.*4136T= (n.*4136T=) c.230+11436T= c.4844T= (p.Val1615=) c.4739T= (p.Val1580=) c.4730T= (p.Val1577=) c.4691T= (p.Val1564=) c.4637T= (p.Val1546=) c.4541T= (p.Val1514=) c.4511T= (p.Val1504=) c.4436T= (p.Val1479=) c.4334T= (p.Val1445=) c.3965T= (p.Val1322=) | |
| 5 | g.112840409G>A | CA16611674 | APC | c.4869G>A (p.Val1623=) c.*4821G>A (n.*4821G>A) c.4761G>A (p.Val1587=) c.4815G>A (p.Val1605=) c.*4137G>A (n.*4137G>A) c.230+11437G>A c.4845G>A (p.Val1615=) c.4740G>A (p.Val1580=) c.4731G>A (p.Val1577=) c.4692G>A (p.Val1564=) c.4638G>A (p.Val1546=) c.4542G>A (p.Val1514=) c.4512G>A (p.Val1504=) c.4437G>A (p.Val1479=) c.4335G>A (p.Val1445=) c.3966G>A (p.Val1322=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112840409G>C | CA446208061 | APC | c.4869G>C (p.Val1623=) c.*4821G>C (n.*4821G>C) c.4761G>C (p.Val1587=) c.4815G>C (p.Val1605=) c.*4137G>C (n.*4137G>C) c.230+11437G>C c.4845G>C (p.Val1615=) c.4740G>C (p.Val1580=) c.4731G>C (p.Val1577=) c.4692G>C (p.Val1564=) c.4638G>C (p.Val1546=) c.4542G>C (p.Val1514=) c.4512G>C (p.Val1504=) c.4437G>C (p.Val1479=) c.4335G>C (p.Val1445=) c.3966G>C (p.Val1322=) | dbSNP |
| 5 | g.112840409G= | CA1573471677 | APC | c.4869G= (p.Val1623=) c.*4821G= (n.*4821G=) c.4761G= (p.Val1587=) c.4815G= (p.Val1605=) c.*4137G= (n.*4137G=) c.230+11437G= c.4845G= (p.Val1615=) c.4740G= (p.Val1580=) c.4731G= (p.Val1577=) c.4692G= (p.Val1564=) c.4638G= (p.Val1546=) c.4542G= (p.Val1514=) c.4512G= (p.Val1504=) c.4437G= (p.Val1479=) c.4335G= (p.Val1445=) c.3966G= (p.Val1322=) | |
| 5 | g.112840409G>T | CA446208062 | APC | c.4869G>T (p.Val1623=) c.*4821G>T (n.*4821G>T) c.4761G>T (p.Val1587=) c.4815G>T (p.Val1605=) c.*4137G>T (n.*4137G>T) c.230+11437G>T c.4845G>T (p.Val1615=) c.4740G>T (p.Val1580=) c.4731G>T (p.Val1577=) c.4692G>T (p.Val1564=) c.4638G>T (p.Val1546=) c.4542G>T (p.Val1514=) c.4512G>T (p.Val1504=) c.4437G>T (p.Val1479=) c.4335G>T (p.Val1445=) c.3966G>T (p.Val1322=) | dbSNP |
| 5 | g.112840410del | CA2573138710 | APC | c.4870del (p.Ala1624GlnfsTer?) c.*4822del (n.*4822del) c.4762del (p.Ala1588GlnfsTer?) c.4816del (p.Ala1606GlnfsTer?) c.*4138del (n.*4138del) c.230+11438del c.4846del (p.Ala1616GlnfsTer?) c.4741del (p.Ala1581GlnfsTer?) c.4732del (p.Ala1578GlnfsTer?) c.4693del (p.Ala1565GlnfsTer?) c.4639del (p.Ala1547GlnfsTer?) c.4543del (p.Ala1515GlnfsTer?) c.4513del (p.Ala1505GlnfsTer?) c.4438del (p.Ala1480GlnfsTer?) c.4336del (p.Ala1446GlnfsTer?) c.3967del (p.Ala1323GlnfsTer?) | ClinVar dbSNP |
| 5 | g.112840410G>A | CA16031882 | APC | c.4870G>A (p.Ala1624Thr) c.*4822G>A (n.*4822G>A) c.4762G>A (p.Ala1588Thr) c.4816G>A (p.Ala1606Thr) c.*4138G>A (n.*4138G>A) c.230+11438G>A c.4846G>A (p.Ala1616Thr) c.4741G>A (p.Ala1581Thr) c.4732G>A (p.Ala1578Thr) c.4693G>A (p.Ala1565Thr) c.4639G>A (p.Ala1547Thr) c.4543G>A (p.Ala1515Thr) c.4513G>A (p.Ala1505Thr) c.4438G>A (p.Ala1480Thr) c.4336G>A (p.Ala1446Thr) c.3967G>A (p.Ala1323Thr) | ClinVar dbSNP |
| 5 | g.112840410G>C | CA16031883 | APC | c.4870G>C (p.Ala1624Pro) c.*4822G>C (n.*4822G>C) c.4762G>C (p.Ala1588Pro) c.4816G>C (p.Ala1606Pro) c.*4138G>C (n.*4138G>C) c.230+11438G>C c.4846G>C (p.Ala1616Pro) c.4741G>C (p.Ala1581Pro) c.4732G>C (p.Ala1578Pro) c.4693G>C (p.Ala1565Pro) c.4639G>C (p.Ala1547Pro) c.4543G>C (p.Ala1515Pro) c.4513G>C (p.Ala1505Pro) c.4438G>C (p.Ala1480Pro) c.4336G>C (p.Ala1446Pro) c.3967G>C (p.Ala1323Pro) | dbSNP |
| 5 | g.112840410G= | CA1573471693 | APC | c.4870G= (p.Ala1624=) c.*4822G= (n.*4822G=) c.4762G= (p.Ala1588=) c.4816G= (p.Ala1606=) c.*4138G= (n.*4138G=) c.230+11438G= c.4846G= (p.Ala1616=) c.4741G= (p.Ala1581=) c.4732G= (p.Ala1578=) c.4693G= (p.Ala1565=) c.4639G= (p.Ala1547=) c.4543G= (p.Ala1515=) c.4513G= (p.Ala1505=) c.4438G= (p.Ala1480=) c.4336G= (p.Ala1446=) c.3967G= (p.Ala1323=) | |
| 5 | g.112840410G>T | CA16031884 | APC | c.4870G>T (p.Ala1624Ser) c.*4822G>T (n.*4822G>T) c.4762G>T (p.Ala1588Ser) c.4816G>T (p.Ala1606Ser) c.*4138G>T (n.*4138G>T) c.230+11438G>T c.4846G>T (p.Ala1616Ser) c.4741G>T (p.Ala1581Ser) c.4732G>T (p.Ala1578Ser) c.4693G>T (p.Ala1565Ser) c.4639G>T (p.Ala1547Ser) c.4543G>T (p.Ala1515Ser) c.4513G>T (p.Ala1505Ser) c.4438G>T (p.Ala1480Ser) c.4336G>T (p.Ala1446Ser) c.3967G>T (p.Ala1323Ser) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112840411C>A | CA16031885 | APC | c.4871C>A (p.Ala1624Glu) c.*4823C>A (n.*4823C>A) c.4763C>A (p.Ala1588Glu) c.4817C>A (p.Ala1606Glu) c.*4139C>A (n.*4139C>A) c.230+11439C>A c.4847C>A (p.Ala1616Glu) c.4742C>A (p.Ala1581Glu) c.4733C>A (p.Ala1578Glu) c.4694C>A (p.Ala1565Glu) c.4640C>A (p.Ala1547Glu) c.4544C>A (p.Ala1515Glu) c.4514C>A (p.Ala1505Glu) c.4439C>A (p.Ala1480Glu) c.4337C>A (p.Ala1446Glu) c.3968C>A (p.Ala1323Glu) | ClinVar dbSNP |
| 5 | g.112840411C= | CA1573471706 | APC | c.4871C= (p.Ala1624=) c.*4823C= (n.*4823C=) c.4763C= (p.Ala1588=) c.4817C= (p.Ala1606=) c.*4139C= (n.*4139C=) c.230+11439C= c.4847C= (p.Ala1616=) c.4742C= (p.Ala1581=) c.4733C= (p.Ala1578=) c.4694C= (p.Ala1565=) c.4640C= (p.Ala1547=) c.4544C= (p.Ala1515=) c.4514C= (p.Ala1505=) c.4439C= (p.Ala1480=) c.4337C= (p.Ala1446=) c.3968C= (p.Ala1323=) | |
| 5 | g.112840411C>G | CA16031886 | APC | c.4871C>G (p.Ala1624Gly) c.*4823C>G (n.*4823C>G) c.4763C>G (p.Ala1588Gly) c.4817C>G (p.Ala1606Gly) c.*4139C>G (n.*4139C>G) c.230+11439C>G c.4847C>G (p.Ala1616Gly) c.4742C>G (p.Ala1581Gly) c.4733C>G (p.Ala1578Gly) c.4694C>G (p.Ala1565Gly) c.4640C>G (p.Ala1547Gly) c.4544C>G (p.Ala1515Gly) c.4514C>G (p.Ala1505Gly) c.4439C>G (p.Ala1480Gly) c.4337C>G (p.Ala1446Gly) c.3968C>G (p.Ala1323Gly) | dbSNP |
| 5 | g.112840411C>T | CA16031887 | APC | c.4871C>T (p.Ala1624Val) c.*4823C>T (n.*4823C>T) c.4763C>T (p.Ala1588Val) c.4817C>T (p.Ala1606Val) c.*4139C>T (n.*4139C>T) c.230+11439C>T c.4847C>T (p.Ala1616Val) c.4742C>T (p.Ala1581Val) c.4733C>T (p.Ala1578Val) c.4694C>T (p.Ala1565Val) c.4640C>T (p.Ala1547Val) c.4544C>T (p.Ala1515Val) c.4514C>T (p.Ala1505Val) c.4439C>T (p.Ala1480Val) c.4337C>T (p.Ala1446Val) c.3968C>T (p.Ala1323Val) | ClinVar dbSNP |
| 5 | g.112840412A= | CA1573471717 | APC | c.4872A= (p.Ala1624=) c.*4824A= (n.*4824A=) c.4764A= (p.Ala1588=) c.4818A= (p.Ala1606=) c.*4140A= (n.*4140A=) c.230+11440A= c.4848A= (p.Ala1616=) c.4743A= (p.Ala1581=) c.4734A= (p.Ala1578=) c.4695A= (p.Ala1565=) c.4641A= (p.Ala1547=) c.4545A= (p.Ala1515=) c.4515A= (p.Ala1505=) c.4440A= (p.Ala1480=) c.4338A= (p.Ala1446=) c.3969A= (p.Ala1323=) | |
| 5 | g.112840412A>C | CA446208064 | APC | c.4872A>C (p.Ala1624=) c.*4824A>C (n.*4824A>C) c.4764A>C (p.Ala1588=) c.4818A>C (p.Ala1606=) c.*4140A>C (n.*4140A>C) c.230+11440A>C c.4848A>C (p.Ala1616=) c.4743A>C (p.Ala1581=) c.4734A>C (p.Ala1578=) c.4695A>C (p.Ala1565=) c.4641A>C (p.Ala1547=) c.4545A>C (p.Ala1515=) c.4515A>C (p.Ala1505=) c.4440A>C (p.Ala1480=) c.4338A>C (p.Ala1446=) c.3969A>C (p.Ala1323=) | ClinVar |
| 5 | g.112840412A>G | CA446208065 | APC | c.4872A>G (p.Ala1624=) c.*4824A>G (n.*4824A>G) c.4764A>G (p.Ala1588=) c.4818A>G (p.Ala1606=) c.*4140A>G (n.*4140A>G) c.230+11440A>G c.4848A>G (p.Ala1616=) c.4743A>G (p.Ala1581=) c.4734A>G (p.Ala1578=) c.4695A>G (p.Ala1565=) c.4641A>G (p.Ala1547=) c.4545A>G (p.Ala1515=) c.4515A>G (p.Ala1505=) c.4440A>G (p.Ala1480=) c.4338A>G (p.Ala1446=) c.3969A>G (p.Ala1323=) | ClinVar dbSNP |
| 5 | g.112840412A>T | CA446208063 | APC | c.4872A>T (p.Ala1624=) c.*4824A>T (n.*4824A>T) c.4764A>T (p.Ala1588=) c.4818A>T (p.Ala1606=) c.*4140A>T (n.*4140A>T) c.230+11440A>T c.4848A>T (p.Ala1616=) c.4743A>T (p.Ala1581=) c.4734A>T (p.Ala1578=) c.4695A>T (p.Ala1565=) c.4641A>T (p.Ala1547=) c.4545A>T (p.Ala1515=) c.4515A>T (p.Ala1505=) c.4440A>T (p.Ala1480=) c.4338A>T (p.Ala1446=) c.3969A>T (p.Ala1323=) | dbSNP |
| 5 | g.112840413A= | CA1573471721 | APC | c.4873A= (p.Arg1625=) c.*4825A= (n.*4825A=) c.4765A= (p.Arg1589=) c.4819A= (p.Arg1607=) c.*4141A= (n.*4141A=) c.230+11441A= c.4849A= (p.Arg1617=) c.4744A= (p.Arg1582=) c.4735A= (p.Arg1579=) c.4696A= (p.Arg1566=) c.4642A= (p.Arg1548=) c.4546A= (p.Arg1516=) c.4516A= (p.Arg1506=) c.4441A= (p.Arg1481=) c.4339A= (p.Arg1447=) c.3970A= (p.Arg1324=) | |
| 5 | g.112840413A>C | CA446208066 | APC | c.4873A>C (p.Arg1625=) c.*4825A>C (n.*4825A>C) c.4765A>C (p.Arg1589=) c.4819A>C (p.Arg1607=) c.*4141A>C (n.*4141A>C) c.230+11441A>C c.4849A>C (p.Arg1617=) c.4744A>C (p.Arg1582=) c.4735A>C (p.Arg1579=) c.4696A>C (p.Arg1566=) c.4642A>C (p.Arg1548=) c.4546A>C (p.Arg1516=) c.4516A>C (p.Arg1506=) c.4441A>C (p.Arg1481=) c.4339A>C (p.Arg1447=) c.3970A>C (p.Arg1324=) | ClinVar dbSNP |
| 5 | g.112840413A>G | CA16031888 | APC | c.4873A>G (p.Arg1625Gly) c.*4825A>G (n.*4825A>G) c.4765A>G (p.Arg1589Gly) c.4819A>G (p.Arg1607Gly) c.*4141A>G (n.*4141A>G) c.230+11441A>G c.4849A>G (p.Arg1617Gly) c.4744A>G (p.Arg1582Gly) c.4735A>G (p.Arg1579Gly) c.4696A>G (p.Arg1566Gly) c.4642A>G (p.Arg1548Gly) c.4546A>G (p.Arg1516Gly) c.4516A>G (p.Arg1506Gly) c.4441A>G (p.Arg1481Gly) c.4339A>G (p.Arg1447Gly) c.3970A>G (p.Arg1324Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.112840413A>T | CA16031889 | APC | c.4873A>T (p.Arg1625Trp) c.*4825A>T (n.*4825A>T) c.4765A>T (p.Arg1589Trp) c.4819A>T (p.Arg1607Trp) c.*4141A>T (n.*4141A>T) c.230+11441A>T c.4849A>T (p.Arg1617Trp) c.4744A>T (p.Arg1582Trp) c.4735A>T (p.Arg1579Trp) c.4696A>T (p.Arg1566Trp) c.4642A>T (p.Arg1548Trp) c.4546A>T (p.Arg1516Trp) c.4516A>T (p.Arg1506Trp) c.4441A>T (p.Arg1481Trp) c.4339A>T (p.Arg1447Trp) c.3970A>T (p.Arg1324Trp) | dbSNP gnomAD v4 |
| 5 | g.112840414G>A | CA16031890 | APC | c.4874G>A (p.Arg1625Lys) c.*4826G>A (n.*4826G>A) c.4766G>A (p.Arg1589Lys) c.4820G>A (p.Arg1607Lys) c.*4142G>A (n.*4142G>A) c.230+11442G>A c.4850G>A (p.Arg1617Lys) c.4745G>A (p.Arg1582Lys) c.4736G>A (p.Arg1579Lys) c.4697G>A (p.Arg1566Lys) c.4643G>A (p.Arg1548Lys) c.4547G>A (p.Arg1516Lys) c.4517G>A (p.Arg1506Lys) c.4442G>A (p.Arg1481Lys) c.4340G>A (p.Arg1447Lys) c.3971G>A (p.Arg1324Lys) | dbSNP |
| 5 | g.112840414G>C | CA16031891 | APC | c.4874G>C (p.Arg1625Thr) c.*4826G>C (n.*4826G>C) c.4766G>C (p.Arg1589Thr) c.4820G>C (p.Arg1607Thr) c.*4142G>C (n.*4142G>C) c.230+11442G>C c.4850G>C (p.Arg1617Thr) c.4745G>C (p.Arg1582Thr) c.4736G>C (p.Arg1579Thr) c.4697G>C (p.Arg1566Thr) c.4643G>C (p.Arg1548Thr) c.4547G>C (p.Arg1516Thr) c.4517G>C (p.Arg1506Thr) c.4442G>C (p.Arg1481Thr) c.4340G>C (p.Arg1447Thr) c.3971G>C (p.Arg1324Thr) | dbSNP |
| 5 | g.112840414G>T | CA16031892 | APC | c.4874G>T (p.Arg1625Met) c.*4826G>T (n.*4826G>T) c.4766G>T (p.Arg1589Met) c.4820G>T (p.Arg1607Met) c.*4142G>T (n.*4142G>T) c.230+11442G>T c.4850G>T (p.Arg1617Met) c.4745G>T (p.Arg1582Met) c.4736G>T (p.Arg1579Met) c.4697G>T (p.Arg1566Met) c.4643G>T (p.Arg1548Met) c.4547G>T (p.Arg1516Met) c.4517G>T (p.Arg1506Met) c.4442G>T (p.Arg1481Met) c.4340G>T (p.Arg1447Met) c.3971G>T (p.Arg1324Met) | dbSNP |
| 5 | g.112840415G>A | CA446208067 | APC | c.4875G>A (p.Arg1625=) c.*4827G>A (n.*4827G>A) c.4767G>A (p.Arg1589=) c.4821G>A (p.Arg1607=) c.*4143G>A (n.*4143G>A) c.230+11443G>A c.4851G>A (p.Arg1617=) c.4746G>A (p.Arg1582=) c.4737G>A (p.Arg1579=) c.4698G>A (p.Arg1566=) c.4644G>A (p.Arg1548=) c.4548G>A (p.Arg1516=) c.4518G>A (p.Arg1506=) c.4443G>A (p.Arg1481=) c.4341G>A (p.Arg1447=) c.3972G>A (p.Arg1324=) | ClinVar dbSNP |
| 5 | g.112840415G>C | CA16031893 | APC | c.4875G>C (p.Arg1625Ser) c.*4827G>C (n.*4827G>C) c.4767G>C (p.Arg1589Ser) c.4821G>C (p.Arg1607Ser) c.*4143G>C (n.*4143G>C) c.230+11443G>C c.4851G>C (p.Arg1617Ser) c.4746G>C (p.Arg1582Ser) c.4737G>C (p.Arg1579Ser) c.4698G>C (p.Arg1566Ser) c.4644G>C (p.Arg1548Ser) c.4548G>C (p.Arg1516Ser) c.4518G>C (p.Arg1506Ser) c.4443G>C (p.Arg1481Ser) c.4341G>C (p.Arg1447Ser) c.3972G>C (p.Arg1324Ser) | |
| 5 | g.112840415G>T | CA16031894 | APC | c.4875G>T (p.Arg1625Ser) c.*4827G>T (n.*4827G>T) c.4767G>T (p.Arg1589Ser) c.4821G>T (p.Arg1607Ser) c.*4143G>T (n.*4143G>T) c.230+11443G>T c.4851G>T (p.Arg1617Ser) c.4746G>T (p.Arg1582Ser) c.4737G>T (p.Arg1579Ser) c.4698G>T (p.Arg1566Ser) c.4644G>T (p.Arg1548Ser) c.4548G>T (p.Arg1516Ser) c.4518G>T (p.Arg1506Ser) c.4443G>T (p.Arg1481Ser) c.4341G>T (p.Arg1447Ser) c.3972G>T (p.Arg1324Ser) | dbSNP COSMIC |