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.112840501del | CA2695205308 | APC | c.4961del (p.Asp1654ValfsTer14) c.*4913del (n.*4913del) c.4853del (p.Asp1618ValfsTer14) c.4907del (p.Asp1636ValfsTer14) c.*4229del (n.*4229del) c.230+11529del c.4937del (p.Asp1646ValfsTer14) c.4832del (p.Asp1611ValfsTer14) c.4823del (p.Asp1608ValfsTer14) c.4784del (p.Asp1595ValfsTer14) c.4730del (p.Asp1577ValfsTer14) c.4634del (p.Asp1545ValfsTer14) c.4604del (p.Asp1535ValfsTer14) c.4529del (p.Asp1510ValfsTer14) c.4427del (p.Asp1476ValfsTer14) c.4058del (p.Asp1353ValfsTer14) | |
| 5 | g.112840501A>C | CA16032079 | APC | c.4961A>C (p.Asp1654Ala) c.*4913A>C (n.*4913A>C) c.4853A>C (p.Asp1618Ala) c.4907A>C (p.Asp1636Ala) c.*4229A>C (n.*4229A>C) c.230+11529A>C c.4937A>C (p.Asp1646Ala) c.4832A>C (p.Asp1611Ala) c.4823A>C (p.Asp1608Ala) c.4784A>C (p.Asp1595Ala) c.4730A>C (p.Asp1577Ala) c.4634A>C (p.Asp1545Ala) c.4604A>C (p.Asp1535Ala) c.4529A>C (p.Asp1510Ala) c.4427A>C (p.Asp1476Ala) c.4058A>C (p.Asp1353Ala) | dbSNP |
| 5 | g.112840501A>G | CA16032080 | APC | c.4961A>G (p.Asp1654Gly) c.*4913A>G (n.*4913A>G) c.4853A>G (p.Asp1618Gly) c.4907A>G (p.Asp1636Gly) c.*4229A>G (n.*4229A>G) c.230+11529A>G c.4937A>G (p.Asp1646Gly) c.4832A>G (p.Asp1611Gly) c.4823A>G (p.Asp1608Gly) c.4784A>G (p.Asp1595Gly) c.4730A>G (p.Asp1577Gly) c.4634A>G (p.Asp1545Gly) c.4604A>G (p.Asp1535Gly) c.4529A>G (p.Asp1510Gly) c.4427A>G (p.Asp1476Gly) c.4058A>G (p.Asp1353Gly) | ClinVar dbSNP |
| 5 | g.112840501A>T | CA16032081 | APC | c.4961A>T (p.Asp1654Val) c.*4913A>T (n.*4913A>T) c.4853A>T (p.Asp1618Val) c.4907A>T (p.Asp1636Val) c.*4229A>T (n.*4229A>T) c.230+11529A>T c.4937A>T (p.Asp1646Val) c.4832A>T (p.Asp1611Val) c.4823A>T (p.Asp1608Val) c.4784A>T (p.Asp1595Val) c.4730A>T (p.Asp1577Val) c.4634A>T (p.Asp1545Val) c.4604A>T (p.Asp1535Val) c.4529A>T (p.Asp1510Val) c.4427A>T (p.Asp1476Val) c.4058A>T (p.Asp1353Val) | ClinVar dbSNP |
| 5 | g.112840501dup | CA2582341394 | APC | c.4961dup (p.Asp1654GlufsTer2) c.*4913dup (n.*4913dup) c.4853dup (p.Asp1618GlufsTer2) c.4907dup (p.Asp1636GlufsTer2) c.*4229dup (n.*4229dup) c.230+11529dup c.4937dup (p.Asp1646GlufsTer2) c.4832dup (p.Asp1611GlufsTer2) c.4823dup (p.Asp1608GlufsTer2) c.4784dup (p.Asp1595GlufsTer2) c.4730dup (p.Asp1577GlufsTer2) c.4634dup (p.Asp1545GlufsTer2) c.4604dup (p.Asp1535GlufsTer2) c.4529dup (p.Asp1510GlufsTer2) c.4427dup (p.Asp1476GlufsTer2) c.4058dup (p.Asp1353GlufsTer2) | ClinVar |
| 5 | g.112840502T>A | CA16032082 | APC | c.4962T>A (p.Asp1654Glu) c.*4914T>A (n.*4914T>A) c.4854T>A (p.Asp1618Glu) c.4908T>A (p.Asp1636Glu) c.*4230T>A (n.*4230T>A) c.230+11530T>A c.4938T>A (p.Asp1646Glu) c.4833T>A (p.Asp1611Glu) c.4824T>A (p.Asp1608Glu) c.4785T>A (p.Asp1595Glu) c.4731T>A (p.Asp1577Glu) c.4635T>A (p.Asp1545Glu) c.4605T>A (p.Asp1535Glu) c.4530T>A (p.Asp1510Glu) c.4428T>A (p.Asp1476Glu) c.4059T>A (p.Asp1353Glu) | dbSNP |
| 5 | g.112840502T>C | CA446208687 | APC | c.4962T>C (p.Asp1654=) c.*4914T>C (n.*4914T>C) c.4854T>C (p.Asp1618=) c.4908T>C (p.Asp1636=) c.*4230T>C (n.*4230T>C) c.230+11530T>C c.4938T>C (p.Asp1646=) c.4833T>C (p.Asp1611=) c.4824T>C (p.Asp1608=) c.4785T>C (p.Asp1595=) c.4731T>C (p.Asp1577=) c.4635T>C (p.Asp1545=) c.4605T>C (p.Asp1535=) c.4530T>C (p.Asp1510=) c.4428T>C (p.Asp1476=) c.4059T>C (p.Asp1353=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112840502T>G | CA16032083 | APC | c.4962T>G (p.Asp1654Glu) c.*4914T>G (n.*4914T>G) c.4854T>G (p.Asp1618Glu) c.4908T>G (p.Asp1636Glu) c.*4230T>G (n.*4230T>G) c.230+11530T>G c.4938T>G (p.Asp1646Glu) c.4833T>G (p.Asp1611Glu) c.4824T>G (p.Asp1608Glu) c.4785T>G (p.Asp1595Glu) c.4731T>G (p.Asp1577Glu) c.4635T>G (p.Asp1545Glu) c.4605T>G (p.Asp1535Glu) c.4530T>G (p.Asp1510Glu) c.4428T>G (p.Asp1476Glu) c.4059T>G (p.Asp1353Glu) | dbSNP |
| 5 | g.112840502T= | CA1573472456 | APC | c.4962T= (p.Asp1654=) c.*4914T= (n.*4914T=) c.4854T= (p.Asp1618=) c.4908T= (p.Asp1636=) c.*4230T= (n.*4230T=) c.230+11530T= c.4938T= (p.Asp1646=) c.4833T= (p.Asp1611=) c.4824T= (p.Asp1608=) c.4785T= (p.Asp1595=) c.4731T= (p.Asp1577=) c.4635T= (p.Asp1545=) c.4605T= (p.Asp1535=) c.4530T= (p.Asp1510=) c.4428T= (p.Asp1476=) c.4059T= (p.Asp1353=) | |
| 5 | g.112840502_112840514del | CA2582341395 | APC | c.4962_4974del (p.Asp1654GlufsTer10) c.*4914_*4926del (n.*4914_*4926del) c.4854_4866del (p.Asp1618GlufsTer10) c.4908_4920del (p.Asp1636GlufsTer10) c.*4230_*4242del (n.*4230_*4242del) c.230+11530_230+11542del c.4938_4950del (p.Asp1646GlufsTer10) c.4833_4845del (p.Asp1611GlufsTer10) c.4824_4836del (p.Asp1608GlufsTer10) c.4785_4797del (p.Asp1595GlufsTer10) c.4731_4743del (p.Asp1577GlufsTer10) c.4635_4647del (p.Asp1545GlufsTer10) c.4605_4617del (p.Asp1535GlufsTer10) c.4530_4542del (p.Asp1510GlufsTer10) c.4428_4440del (p.Asp1476GlufsTer10) c.4059_4071del (p.Asp1353GlufsTer10) | ClinVar |
| 5 | g.112840503G>A | CA16032084 | APC | c.4963G>A (p.Asp1655Asn) c.*4915G>A (n.*4915G>A) c.4855G>A (p.Asp1619Asn) c.4909G>A (p.Asp1637Asn) c.*4231G>A (n.*4231G>A) c.230+11531G>A c.4939G>A (p.Asp1647Asn) c.4834G>A (p.Asp1612Asn) c.4825G>A (p.Asp1609Asn) c.4786G>A (p.Asp1596Asn) c.4732G>A (p.Asp1578Asn) c.4636G>A (p.Asp1546Asn) c.4606G>A (p.Asp1536Asn) c.4531G>A (p.Asp1511Asn) c.4429G>A (p.Asp1477Asn) c.4060G>A (p.Asp1354Asn) | ClinVar dbSNP |
| 5 | g.112840503G>C | CA16032085 | APC | c.4963G>C (p.Asp1655His) c.*4915G>C (n.*4915G>C) c.4855G>C (p.Asp1619His) c.4909G>C (p.Asp1637His) c.*4231G>C (n.*4231G>C) c.230+11531G>C c.4939G>C (p.Asp1647His) c.4834G>C (p.Asp1612His) c.4825G>C (p.Asp1609His) c.4786G>C (p.Asp1596His) c.4732G>C (p.Asp1578His) c.4636G>C (p.Asp1546His) c.4606G>C (p.Asp1536His) c.4531G>C (p.Asp1511His) c.4429G>C (p.Asp1477His) c.4060G>C (p.Asp1354His) | ClinVar dbSNP |
| 5 | g.112840503G= | CA1573472468 | APC | c.4963G= (p.Asp1655=) c.*4915G= (n.*4915G=) c.4855G= (p.Asp1619=) c.4909G= (p.Asp1637=) c.*4231G= (n.*4231G=) c.230+11531G= c.4939G= (p.Asp1647=) c.4834G= (p.Asp1612=) c.4825G= (p.Asp1609=) c.4786G= (p.Asp1596=) c.4732G= (p.Asp1578=) c.4636G= (p.Asp1546=) c.4606G= (p.Asp1536=) c.4531G= (p.Asp1511=) c.4429G= (p.Asp1477=) c.4060G= (p.Asp1354=) | |
| 5 | g.112840503G>T | CA16032086 | APC | c.4963G>T (p.Asp1655Tyr) c.*4915G>T (n.*4915G>T) c.4855G>T (p.Asp1619Tyr) c.4909G>T (p.Asp1637Tyr) c.*4231G>T (n.*4231G>T) c.230+11531G>T c.4939G>T (p.Asp1647Tyr) c.4834G>T (p.Asp1612Tyr) c.4825G>T (p.Asp1609Tyr) c.4786G>T (p.Asp1596Tyr) c.4732G>T (p.Asp1578Tyr) c.4636G>T (p.Asp1546Tyr) c.4606G>T (p.Asp1536Tyr) c.4531G>T (p.Asp1511Tyr) c.4429G>T (p.Asp1477Tyr) c.4060G>T (p.Asp1354Tyr) | ClinVar dbSNP COSMIC |
| 5 | g.112840504A>C | CA16032087 | APC | c.4964A>C (p.Asp1655Ala) c.*4916A>C (n.*4916A>C) c.4856A>C (p.Asp1619Ala) c.4910A>C (p.Asp1637Ala) c.*4232A>C (n.*4232A>C) c.230+11532A>C c.4940A>C (p.Asp1647Ala) c.4835A>C (p.Asp1612Ala) c.4826A>C (p.Asp1609Ala) c.4787A>C (p.Asp1596Ala) c.4733A>C (p.Asp1578Ala) c.4637A>C (p.Asp1546Ala) c.4607A>C (p.Asp1536Ala) c.4532A>C (p.Asp1511Ala) c.4430A>C (p.Asp1477Ala) c.4061A>C (p.Asp1354Ala) | |
| 5 | g.112840504A>G | CA16032088 | APC | c.4964A>G (p.Asp1655Gly) c.*4916A>G (n.*4916A>G) c.4856A>G (p.Asp1619Gly) c.4910A>G (p.Asp1637Gly) c.*4232A>G (n.*4232A>G) c.230+11532A>G c.4940A>G (p.Asp1647Gly) c.4835A>G (p.Asp1612Gly) c.4826A>G (p.Asp1609Gly) c.4787A>G (p.Asp1596Gly) c.4733A>G (p.Asp1578Gly) c.4637A>G (p.Asp1546Gly) c.4607A>G (p.Asp1536Gly) c.4532A>G (p.Asp1511Gly) c.4430A>G (p.Asp1477Gly) c.4061A>G (p.Asp1354Gly) | ClinVar gnomAD v4 |
| 5 | g.112840504A>T | CA16032089 | APC | c.4964A>T (p.Asp1655Val) c.*4916A>T (n.*4916A>T) c.4856A>T (p.Asp1619Val) c.4910A>T (p.Asp1637Val) c.*4232A>T (n.*4232A>T) c.230+11532A>T c.4940A>T (p.Asp1647Val) c.4835A>T (p.Asp1612Val) c.4826A>T (p.Asp1609Val) c.4787A>T (p.Asp1596Val) c.4733A>T (p.Asp1578Val) c.4637A>T (p.Asp1546Val) c.4607A>T (p.Asp1536Val) c.4532A>T (p.Asp1511Val) c.4430A>T (p.Asp1477Val) c.4061A>T (p.Asp1354Val) | gnomAD v4 |
| 5 | g.112840505T>A | CA16032090 | APC | c.4965T>A (p.Asp1655Glu) c.*4917T>A (n.*4917T>A) c.4857T>A (p.Asp1619Glu) c.4911T>A (p.Asp1637Glu) c.*4233T>A (n.*4233T>A) c.230+11533T>A c.4941T>A (p.Asp1647Glu) c.4836T>A (p.Asp1612Glu) c.4827T>A (p.Asp1609Glu) c.4788T>A (p.Asp1596Glu) c.4734T>A (p.Asp1578Glu) c.4638T>A (p.Asp1546Glu) c.4608T>A (p.Asp1536Glu) c.4533T>A (p.Asp1511Glu) c.4431T>A (p.Asp1477Glu) c.4062T>A (p.Asp1354Glu) | dbSNP |
| 5 | g.112840505T>C | CA446208688 | APC | c.4965T>C (p.Asp1655=) c.*4917T>C (n.*4917T>C) c.4857T>C (p.Asp1619=) c.4911T>C (p.Asp1637=) c.*4233T>C (n.*4233T>C) c.230+11533T>C c.4941T>C (p.Asp1647=) c.4836T>C (p.Asp1612=) c.4827T>C (p.Asp1609=) c.4788T>C (p.Asp1596=) c.4734T>C (p.Asp1578=) c.4638T>C (p.Asp1546=) c.4608T>C (p.Asp1536=) c.4533T>C (p.Asp1511=) c.4431T>C (p.Asp1477=) c.4062T>C (p.Asp1354=) | dbSNP |
| 5 | g.112840505T>G | CA16032091 | APC | c.4965T>G (p.Asp1655Glu) c.*4917T>G (n.*4917T>G) c.4857T>G (p.Asp1619Glu) c.4911T>G (p.Asp1637Glu) c.*4233T>G (n.*4233T>G) c.230+11533T>G c.4941T>G (p.Asp1647Glu) c.4836T>G (p.Asp1612Glu) c.4827T>G (p.Asp1609Glu) c.4788T>G (p.Asp1596Glu) c.4734T>G (p.Asp1578Glu) c.4638T>G (p.Asp1546Glu) c.4608T>G (p.Asp1536Glu) c.4533T>G (p.Asp1511Glu) c.4431T>G (p.Asp1477Glu) c.4062T>G (p.Asp1354Glu) | dbSNP |
| 5 | g.112840506A= | CA1573472473 | APC | c.4966A= (p.Met1656=) c.*4918A= (n.*4918A=) c.4858A= (p.Met1620=) c.4912A= (p.Met1638=) c.*4234A= (n.*4234A=) c.230+11534A= c.4942A= (p.Met1648=) c.4837A= (p.Met1613=) c.4828A= (p.Met1610=) c.4789A= (p.Met1597=) c.4735A= (p.Met1579=) c.4639A= (p.Met1547=) c.4609A= (p.Met1537=) c.4534A= (p.Met1512=) c.4432A= (p.Met1478=) c.4063A= (p.Met1355=) | |
| 5 | g.112840506A>C | CA16032092 | APC | c.4966A>C (p.Met1656Leu) c.*4918A>C (n.*4918A>C) c.4858A>C (p.Met1620Leu) c.4912A>C (p.Met1638Leu) c.*4234A>C (n.*4234A>C) c.230+11534A>C c.4942A>C (p.Met1648Leu) c.4837A>C (p.Met1613Leu) c.4828A>C (p.Met1610Leu) c.4789A>C (p.Met1597Leu) c.4735A>C (p.Met1579Leu) c.4639A>C (p.Met1547Leu) c.4609A>C (p.Met1537Leu) c.4534A>C (p.Met1512Leu) c.4432A>C (p.Met1478Leu) c.4063A>C (p.Met1355Leu) | |
| 5 | g.112840506A>G | CA16032093 | APC | c.4966A>G (p.Met1656Val) c.*4918A>G (n.*4918A>G) c.4858A>G (p.Met1620Val) c.4912A>G (p.Met1638Val) c.*4234A>G (n.*4234A>G) c.230+11534A>G c.4942A>G (p.Met1648Val) c.4837A>G (p.Met1613Val) c.4828A>G (p.Met1610Val) c.4789A>G (p.Met1597Val) c.4735A>G (p.Met1579Val) c.4639A>G (p.Met1547Val) c.4609A>G (p.Met1537Val) c.4534A>G (p.Met1512Val) c.4432A>G (p.Met1478Val) c.4063A>G (p.Met1355Val) | ClinVar dbSNP |
| 5 | g.112840506A>T | CA16032094 | APC | c.4966A>T (p.Met1656Leu) c.*4918A>T (n.*4918A>T) c.4858A>T (p.Met1620Leu) c.4912A>T (p.Met1638Leu) c.*4234A>T (n.*4234A>T) c.230+11534A>T c.4942A>T (p.Met1648Leu) c.4837A>T (p.Met1613Leu) c.4828A>T (p.Met1610Leu) c.4789A>T (p.Met1597Leu) c.4735A>T (p.Met1579Leu) c.4639A>T (p.Met1547Leu) c.4609A>T (p.Met1537Leu) c.4534A>T (p.Met1512Leu) c.4432A>T (p.Met1478Leu) c.4063A>T (p.Met1355Leu) | gnomAD v4 |
| 5 | g.112840506dup | CA2499217491 | APC | c.4966dup (p.Met1656AsnfsTer8) c.*4918dup (n.*4918dup) c.4858dup (p.Met1620AsnfsTer8) c.4912dup (p.Met1638AsnfsTer8) c.*4234dup (n.*4234dup) c.230+11534dup c.4942dup (p.Met1648AsnfsTer8) c.4837dup (p.Met1613AsnfsTer8) c.4828dup (p.Met1610AsnfsTer8) c.4789dup (p.Met1597AsnfsTer8) c.4735dup (p.Met1579AsnfsTer8) c.4639dup (p.Met1547AsnfsTer8) c.4609dup (p.Met1537AsnfsTer8) c.4534dup (p.Met1512AsnfsTer8) c.4432dup (p.Met1478AsnfsTer8) c.4063dup (p.Met1355AsnfsTer8) | ClinVar dbSNP |
| 5 | g.112840507T>A | CA16032095 | APC | c.4967T>A (p.Met1656Lys) c.*4919T>A (n.*4919T>A) c.4859T>A (p.Met1620Lys) c.4913T>A (p.Met1638Lys) c.*4235T>A (n.*4235T>A) c.230+11535T>A c.4943T>A (p.Met1648Lys) c.4838T>A (p.Met1613Lys) c.4829T>A (p.Met1610Lys) c.4790T>A (p.Met1597Lys) c.4736T>A (p.Met1579Lys) c.4640T>A (p.Met1547Lys) c.4610T>A (p.Met1537Lys) c.4535T>A (p.Met1512Lys) c.4433T>A (p.Met1478Lys) c.4064T>A (p.Met1355Lys) | dbSNP |
| 5 | g.112840507T>C | CA040178 | APC | c.4967T>C (p.Met1656Thr) c.*4919T>C (n.*4919T>C) c.4859T>C (p.Met1620Thr) c.4913T>C (p.Met1638Thr) c.*4235T>C (n.*4235T>C) c.230+11535T>C c.4943T>C (p.Met1648Thr) c.4838T>C (p.Met1613Thr) c.4829T>C (p.Met1610Thr) c.4790T>C (p.Met1597Thr) c.4736T>C (p.Met1579Thr) c.4640T>C (p.Met1547Thr) c.4610T>C (p.Met1537Thr) c.4535T>C (p.Met1512Thr) c.4433T>C (p.Met1478Thr) c.4064T>C (p.Met1355Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112840507T>G | CA16032096 | APC | c.4967T>G (p.Met1656Arg) c.*4919T>G (n.*4919T>G) c.4859T>G (p.Met1620Arg) c.4913T>G (p.Met1638Arg) c.*4235T>G (n.*4235T>G) c.230+11535T>G c.4943T>G (p.Met1648Arg) c.4838T>G (p.Met1613Arg) c.4829T>G (p.Met1610Arg) c.4790T>G (p.Met1597Arg) c.4736T>G (p.Met1579Arg) c.4640T>G (p.Met1547Arg) c.4610T>G (p.Met1537Arg) c.4535T>G (p.Met1512Arg) c.4433T>G (p.Met1478Arg) c.4064T>G (p.Met1355Arg) | dbSNP |
| 5 | g.112840507T= | CA1573472483 | APC | c.4967T= (p.Met1656=) c.*4919T= (n.*4919T=) c.4859T= (p.Met1620=) c.4913T= (p.Met1638=) c.*4235T= (n.*4235T=) c.230+11535T= c.4943T= (p.Met1648=) c.4838T= (p.Met1613=) c.4829T= (p.Met1610=) c.4790T= (p.Met1597=) c.4736T= (p.Met1579=) c.4640T= (p.Met1547=) c.4610T= (p.Met1537=) c.4535T= (p.Met1512=) c.4433T= (p.Met1478=) c.4064T= (p.Met1355=) | |
| 5 | g.112840507dup | CA2580610723 | APC | c.4967dup (p.Met1656IlefsTer8) c.*4919dup (n.*4919dup) c.4859dup (p.Met1620IlefsTer8) c.4913dup (p.Met1638IlefsTer8) c.*4235dup (n.*4235dup) c.230+11535dup c.4943dup (p.Met1648IlefsTer8) c.4838dup (p.Met1613IlefsTer8) c.4829dup (p.Met1610IlefsTer8) c.4790dup (p.Met1597IlefsTer8) c.4736dup (p.Met1579IlefsTer8) c.4640dup (p.Met1547IlefsTer8) c.4610dup (p.Met1537IlefsTer8) c.4535dup (p.Met1512IlefsTer8) c.4433dup (p.Met1478IlefsTer8) c.4064dup (p.Met1355IlefsTer8) | ClinVar |
| 5 | g.112840508G>A | CA16032097 | APC | c.4968G>A (p.Met1656Ile) c.*4920G>A (n.*4920G>A) c.4860G>A (p.Met1620Ile) c.4914G>A (p.Met1638Ile) c.*4236G>A (n.*4236G>A) c.230+11536G>A c.4944G>A (p.Met1648Ile) c.4839G>A (p.Met1613Ile) c.4830G>A (p.Met1610Ile) c.4791G>A (p.Met1597Ile) c.4737G>A (p.Met1579Ile) c.4641G>A (p.Met1547Ile) c.4611G>A (p.Met1537Ile) c.4536G>A (p.Met1512Ile) c.4434G>A (p.Met1478Ile) c.4065G>A (p.Met1355Ile) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112840508G>C | CA16032098 | APC | c.4968G>C (p.Met1656Ile) c.*4920G>C (n.*4920G>C) c.4860G>C (p.Met1620Ile) c.4914G>C (p.Met1638Ile) c.*4236G>C (n.*4236G>C) c.230+11536G>C c.4944G>C (p.Met1648Ile) c.4839G>C (p.Met1613Ile) c.4830G>C (p.Met1610Ile) c.4791G>C (p.Met1597Ile) c.4737G>C (p.Met1579Ile) c.4641G>C (p.Met1547Ile) c.4611G>C (p.Met1537Ile) c.4536G>C (p.Met1512Ile) c.4434G>C (p.Met1478Ile) c.4065G>C (p.Met1355Ile) | dbSNP |
| 5 | g.112840508G>T | CA16032099 | APC | c.4968G>T (p.Met1656Ile) c.*4920G>T (n.*4920G>T) c.4860G>T (p.Met1620Ile) c.4914G>T (p.Met1638Ile) c.*4236G>T (n.*4236G>T) c.230+11536G>T c.4944G>T (p.Met1648Ile) c.4839G>T (p.Met1613Ile) c.4830G>T (p.Met1610Ile) c.4791G>T (p.Met1597Ile) c.4737G>T (p.Met1579Ile) c.4641G>T (p.Met1547Ile) c.4611G>T (p.Met1537Ile) c.4536G>T (p.Met1512Ile) c.4434G>T (p.Met1478Ile) c.4065G>T (p.Met1355Ile) | |
| 5 | g.112840509C>A | CA16032100 | APC | c.4969C>A (p.Pro1657Thr) c.*4921C>A (n.*4921C>A) c.4861C>A (p.Pro1621Thr) c.4915C>A (p.Pro1639Thr) c.*4237C>A (n.*4237C>A) c.230+11537C>A c.4945C>A (p.Pro1649Thr) c.4840C>A (p.Pro1614Thr) c.4831C>A (p.Pro1611Thr) c.4792C>A (p.Pro1598Thr) c.4738C>A (p.Pro1580Thr) c.4642C>A (p.Pro1548Thr) c.4612C>A (p.Pro1538Thr) c.4537C>A (p.Pro1513Thr) c.4435C>A (p.Pro1479Thr) c.4066C>A (p.Pro1356Thr) | dbSNP |
| 5 | g.112840509C>G | CA16032101 | APC | c.4969C>G (p.Pro1657Ala) c.*4921C>G (n.*4921C>G) c.4861C>G (p.Pro1621Ala) c.4915C>G (p.Pro1639Ala) c.*4237C>G (n.*4237C>G) c.230+11537C>G c.4945C>G (p.Pro1649Ala) c.4840C>G (p.Pro1614Ala) c.4831C>G (p.Pro1611Ala) c.4792C>G (p.Pro1598Ala) c.4738C>G (p.Pro1580Ala) c.4642C>G (p.Pro1548Ala) c.4612C>G (p.Pro1538Ala) c.4537C>G (p.Pro1513Ala) c.4435C>G (p.Pro1479Ala) c.4066C>G (p.Pro1356Ala) | dbSNP |
| 5 | g.112840509C>T | CA16032102 | APC | c.4969C>T (p.Pro1657Ser) c.*4921C>T (n.*4921C>T) c.4861C>T (p.Pro1621Ser) c.4915C>T (p.Pro1639Ser) c.*4237C>T (n.*4237C>T) c.230+11537C>T c.4945C>T (p.Pro1649Ser) c.4840C>T (p.Pro1614Ser) c.4831C>T (p.Pro1611Ser) c.4792C>T (p.Pro1598Ser) c.4738C>T (p.Pro1580Ser) c.4642C>T (p.Pro1548Ser) c.4612C>T (p.Pro1538Ser) c.4537C>T (p.Pro1513Ser) c.4435C>T (p.Pro1479Ser) c.4066C>T (p.Pro1356Ser) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112840510C>A | CA16032103 | APC | c.4970C>A (p.Pro1657Gln) c.*4922C>A (n.*4922C>A) c.4862C>A (p.Pro1621Gln) c.4916C>A (p.Pro1639Gln) c.*4238C>A (n.*4238C>A) c.230+11538C>A c.4946C>A (p.Pro1649Gln) c.4841C>A (p.Pro1614Gln) c.4832C>A (p.Pro1611Gln) c.4793C>A (p.Pro1598Gln) c.4739C>A (p.Pro1580Gln) c.4643C>A (p.Pro1548Gln) c.4613C>A (p.Pro1538Gln) c.4538C>A (p.Pro1513Gln) c.4436C>A (p.Pro1479Gln) c.4067C>A (p.Pro1356Gln) | dbSNP |
| 5 | g.112840510C>G | CA16032104 | APC | c.4970C>G (p.Pro1657Arg) c.*4922C>G (n.*4922C>G) c.4862C>G (p.Pro1621Arg) c.4916C>G (p.Pro1639Arg) c.*4238C>G (n.*4238C>G) c.230+11538C>G c.4946C>G (p.Pro1649Arg) c.4841C>G (p.Pro1614Arg) c.4832C>G (p.Pro1611Arg) c.4793C>G (p.Pro1598Arg) c.4739C>G (p.Pro1580Arg) c.4643C>G (p.Pro1548Arg) c.4613C>G (p.Pro1538Arg) c.4538C>G (p.Pro1513Arg) c.4436C>G (p.Pro1479Arg) c.4067C>G (p.Pro1356Arg) | dbSNP |
| 5 | g.112840510C>T | CA16032105 | APC | c.4970C>T (p.Pro1657Leu) c.*4922C>T (n.*4922C>T) c.4862C>T (p.Pro1621Leu) c.4916C>T (p.Pro1639Leu) c.*4238C>T (n.*4238C>T) c.230+11538C>T c.4946C>T (p.Pro1649Leu) c.4841C>T (p.Pro1614Leu) c.4832C>T (p.Pro1611Leu) c.4793C>T (p.Pro1598Leu) c.4739C>T (p.Pro1580Leu) c.4643C>T (p.Pro1548Leu) c.4613C>T (p.Pro1538Leu) c.4538C>T (p.Pro1513Leu) c.4436C>T (p.Pro1479Leu) c.4067C>T (p.Pro1356Leu) | dbSNP |
| 5 | g.112840511A= | CA1573472486 | APC | c.4971A= (p.Pro1657=) c.*4923A= (n.*4923A=) c.4863A= (p.Pro1621=) c.4917A= (p.Pro1639=) c.*4239A= (n.*4239A=) c.230+11539A= c.4947A= (p.Pro1649=) c.4842A= (p.Pro1614=) c.4833A= (p.Pro1611=) c.4794A= (p.Pro1598=) c.4740A= (p.Pro1580=) c.4644A= (p.Pro1548=) c.4614A= (p.Pro1538=) c.4539A= (p.Pro1513=) c.4437A= (p.Pro1479=) c.4068A= (p.Pro1356=) | |
| 5 | g.112840511A>C | CA446208689 | APC | c.4971A>C (p.Pro1657=) c.*4923A>C (n.*4923A>C) c.4863A>C (p.Pro1621=) c.4917A>C (p.Pro1639=) c.*4239A>C (n.*4239A>C) c.230+11539A>C c.4947A>C (p.Pro1649=) c.4842A>C (p.Pro1614=) c.4833A>C (p.Pro1611=) c.4794A>C (p.Pro1598=) c.4740A>C (p.Pro1580=) c.4644A>C (p.Pro1548=) c.4614A>C (p.Pro1538=) c.4539A>C (p.Pro1513=) c.4437A>C (p.Pro1479=) c.4068A>C (p.Pro1356=) | dbSNP |
| 5 | g.112840511A>G | CA446208690 | APC | c.4971A>G (p.Pro1657=) c.*4923A>G (n.*4923A>G) c.4863A>G (p.Pro1621=) c.4917A>G (p.Pro1639=) c.*4239A>G (n.*4239A>G) c.230+11539A>G c.4947A>G (p.Pro1649=) c.4842A>G (p.Pro1614=) c.4833A>G (p.Pro1611=) c.4794A>G (p.Pro1598=) c.4740A>G (p.Pro1580=) c.4644A>G (p.Pro1548=) c.4614A>G (p.Pro1538=) c.4539A>G (p.Pro1513=) c.4437A>G (p.Pro1479=) c.4068A>G (p.Pro1356=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.112840511A>T | CA446208691 | APC | c.4971A>T (p.Pro1657=) c.*4923A>T (n.*4923A>T) c.4863A>T (p.Pro1621=) c.4917A>T (p.Pro1639=) c.*4239A>T (n.*4239A>T) c.230+11539A>T c.4947A>T (p.Pro1649=) c.4842A>T (p.Pro1614=) c.4833A>T (p.Pro1611=) c.4794A>T (p.Pro1598=) c.4740A>T (p.Pro1580=) c.4644A>T (p.Pro1548=) c.4614A>T (p.Pro1538=) c.4539A>T (p.Pro1513=) c.4437A>T (p.Pro1479=) c.4068A>T (p.Pro1356=) | dbSNP |
| 5 | g.112840512C>A | CA446208692 | APC | c.4972C>A (p.Arg1658=) c.*4924C>A (n.*4924C>A) c.4864C>A (p.Arg1622=) c.4918C>A (p.Arg1640=) c.*4240C>A (n.*4240C>A) c.230+11540C>A c.4948C>A (p.Arg1650=) c.4843C>A (p.Arg1615=) c.4834C>A (p.Arg1612=) c.4795C>A (p.Arg1599=) c.4741C>A (p.Arg1581=) c.4645C>A (p.Arg1549=) c.4615C>A (p.Arg1539=) c.4540C>A (p.Arg1514=) c.4438C>A (p.Arg1480=) c.4069C>A (p.Arg1357=) | |
| 5 | g.112840512C= | CA1573472493 | APC | c.4972C= (p.Arg1658=) c.*4924C= (n.*4924C=) c.4864C= (p.Arg1622=) c.4918C= (p.Arg1640=) c.*4240C= (n.*4240C=) c.230+11540C= c.4948C= (p.Arg1650=) c.4843C= (p.Arg1615=) c.4834C= (p.Arg1612=) c.4795C= (p.Arg1599=) c.4741C= (p.Arg1581=) c.4645C= (p.Arg1549=) c.4615C= (p.Arg1539=) c.4540C= (p.Arg1514=) c.4438C= (p.Arg1480=) c.4069C= (p.Arg1357=) | |
| 5 | g.112840512C>G | CA16032106 | APC | c.4972C>G (p.Arg1658Gly) c.*4924C>G (n.*4924C>G) c.4864C>G (p.Arg1622Gly) c.4918C>G (p.Arg1640Gly) c.*4240C>G (n.*4240C>G) c.230+11540C>G c.4948C>G (p.Arg1650Gly) c.4843C>G (p.Arg1615Gly) c.4834C>G (p.Arg1612Gly) c.4795C>G (p.Arg1599Gly) c.4741C>G (p.Arg1581Gly) c.4645C>G (p.Arg1549Gly) c.4615C>G (p.Arg1539Gly) c.4540C>G (p.Arg1514Gly) c.4438C>G (p.Arg1480Gly) c.4069C>G (p.Arg1357Gly) | ClinVar dbSNP |
| 5 | g.112840512C>T | CA009806 | APC | c.4972C>T (p.Arg1658Trp) c.*4924C>T (n.*4924C>T) c.4864C>T (p.Arg1622Trp) c.4918C>T (p.Arg1640Trp) c.*4240C>T (n.*4240C>T) c.230+11540C>T c.4948C>T (p.Arg1650Trp) c.4843C>T (p.Arg1615Trp) c.4834C>T (p.Arg1612Trp) c.4795C>T (p.Arg1599Trp) c.4741C>T (p.Arg1581Trp) c.4645C>T (p.Arg1549Trp) c.4615C>T (p.Arg1539Trp) c.4540C>T (p.Arg1514Trp) c.4438C>T (p.Arg1480Trp) c.4069C>T (p.Arg1357Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |