WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| 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.112840726_112840731delinsCTGAAT | CA1573474015 | APC | c.5186_5191delinsCTGAAT (p.Pro1729=) c.*5138_*5143delinsCTGAAT (n.*5138_*5143delinsCTGAAT) c.5078_5083delinsCTGAAT (p.Pro1693=) c.5132_5137delinsCTGAAT (p.Pro1711=) c.*4454_*4459delinsCTGAAT (n.*4454_*4459delinsCTGAAT) c.230+11754_230+11759delinsCTGAAT c.5162_5167delinsCTGAAT (p.Pro1721=) c.5057_5062delinsCTGAAT (p.Pro1686=) c.5048_5053delinsCTGAAT (p.Pro1683=) c.5009_5014delinsCTGAAT (p.Pro1670=) c.4955_4960delinsCTGAAT (p.Pro1652=) c.4859_4864delinsCTGAAT (p.Pro1620=) c.4829_4834delinsCTGAAT (p.Pro1610=) c.4754_4759delinsCTGAAT (p.Pro1585=) c.4652_4657delinsCTGAAT (p.Pro1551=) c.4283_4288delinsCTGAAT (p.Pro1428=) | |
| 5 | g.112840729_112840733del | CA917556717 | APC | c.5189_5193del (p.Glu1730GlyfsTer2) c.*5141_*5145del (n.*5141_*5145del) c.5081_5085del (p.Glu1694GlyfsTer2) c.5135_5139del (p.Glu1712GlyfsTer2) c.*4457_*4461del (n.*4457_*4461del) c.230+11757_230+11761del c.5165_5169del (p.Glu1722GlyfsTer2) c.5060_5064del (p.Glu1687GlyfsTer2) c.5051_5055del (p.Glu1684GlyfsTer2) c.5012_5016del (p.Glu1671GlyfsTer2) c.4958_4962del (p.Glu1653GlyfsTer2) c.4862_4866del (p.Glu1621GlyfsTer2) c.4832_4836del (p.Glu1611GlyfsTer2) c.4757_4761del (p.Glu1586GlyfsTer2) c.4655_4659del (p.Glu1552GlyfsTer2) c.4286_4290del (p.Glu1429GlyfsTer2) | dbSNP |
| 5 | g.112840730A= | CA1573474030 | APC | c.5190A= (p.Glu1730=) c.*5142A= (n.*5142A=) c.5082A= (p.Glu1694=) c.5136A= (p.Glu1712=) c.*4458A= (n.*4458A=) c.230+11758A= c.5166A= (p.Glu1722=) c.5061A= (p.Glu1687=) c.5052A= (p.Glu1684=) c.5013A= (p.Glu1671=) c.4959A= (p.Glu1653=) c.4863A= (p.Glu1621=) c.4833A= (p.Glu1611=) c.4758A= (p.Glu1586=) c.4656A= (p.Glu1552=) c.4287A= (p.Glu1429=) | |
| 5 | g.112840730A>C | CA16032554 | APC | c.5190A>C (p.Glu1730Asp) c.*5142A>C (n.*5142A>C) c.5082A>C (p.Glu1694Asp) c.5136A>C (p.Glu1712Asp) c.*4458A>C (n.*4458A>C) c.230+11758A>C c.5166A>C (p.Glu1722Asp) c.5061A>C (p.Glu1687Asp) c.5052A>C (p.Glu1684Asp) c.5013A>C (p.Glu1671Asp) c.4959A>C (p.Glu1653Asp) c.4863A>C (p.Glu1621Asp) c.4833A>C (p.Glu1611Asp) c.4758A>C (p.Glu1586Asp) c.4656A>C (p.Glu1552Asp) c.4287A>C (p.Glu1429Asp) | dbSNP |
| 5 | g.112840730A>G | CA040722 | APC | c.5190A>G (p.Glu1730=) c.*5142A>G (n.*5142A>G) c.5082A>G (p.Glu1694=) c.5136A>G (p.Glu1712=) c.*4458A>G (n.*4458A>G) c.230+11758A>G c.5166A>G (p.Glu1722=) c.5061A>G (p.Glu1687=) c.5052A>G (p.Glu1684=) c.5013A>G (p.Glu1671=) c.4959A>G (p.Glu1653=) c.4863A>G (p.Glu1621=) c.4833A>G (p.Glu1611=) c.4758A>G (p.Glu1586=) c.4656A>G (p.Glu1552=) c.4287A>G (p.Glu1429=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112840730A>T | CA16032555 | APC | c.5190A>T (p.Glu1730Asp) c.*5142A>T (n.*5142A>T) c.5082A>T (p.Glu1694Asp) c.5136A>T (p.Glu1712Asp) c.*4458A>T (n.*4458A>T) c.230+11758A>T c.5166A>T (p.Glu1722Asp) c.5061A>T (p.Glu1687Asp) c.5052A>T (p.Glu1684Asp) c.5013A>T (p.Glu1671Asp) c.4959A>T (p.Glu1653Asp) c.4863A>T (p.Glu1621Asp) c.4833A>T (p.Glu1611Asp) c.4758A>T (p.Glu1586Asp) c.4656A>T (p.Glu1552Asp) c.4287A>T (p.Glu1429Asp) | dbSNP |
| 5 | g.112840731T>A | CA16032556 | APC | c.5191T>A (p.Leu1731Met) c.*5143T>A (n.*5143T>A) c.5083T>A (p.Leu1695Met) c.5137T>A (p.Leu1713Met) c.*4459T>A (n.*4459T>A) c.230+11759T>A c.5167T>A (p.Leu1723Met) c.5062T>A (p.Leu1688Met) c.5053T>A (p.Leu1685Met) c.5014T>A (p.Leu1672Met) c.4960T>A (p.Leu1654Met) c.4864T>A (p.Leu1622Met) c.4834T>A (p.Leu1612Met) c.4759T>A (p.Leu1587Met) c.4657T>A (p.Leu1553Met) c.4288T>A (p.Leu1430Met) | dbSNP |
| 5 | g.112840731T>C | CA446209604 | APC | c.5191T>C (p.Leu1731=) c.*5143T>C (n.*5143T>C) c.5083T>C (p.Leu1695=) c.5137T>C (p.Leu1713=) c.*4459T>C (n.*4459T>C) c.230+11759T>C c.5167T>C (p.Leu1723=) c.5062T>C (p.Leu1688=) c.5053T>C (p.Leu1685=) c.5014T>C (p.Leu1672=) c.4960T>C (p.Leu1654=) c.4864T>C (p.Leu1622=) c.4834T>C (p.Leu1612=) c.4759T>C (p.Leu1587=) c.4657T>C (p.Leu1553=) c.4288T>C (p.Leu1430=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112840731T>G | CA16032557 | APC | c.5191T>G (p.Leu1731Val) c.*5143T>G (n.*5143T>G) c.5083T>G (p.Leu1695Val) c.5137T>G (p.Leu1713Val) c.*4459T>G (n.*4459T>G) c.230+11759T>G c.5167T>G (p.Leu1723Val) c.5062T>G (p.Leu1688Val) c.5053T>G (p.Leu1685Val) c.5014T>G (p.Leu1672Val) c.4960T>G (p.Leu1654Val) c.4864T>G (p.Leu1622Val) c.4834T>G (p.Leu1612Val) c.4759T>G (p.Leu1587Val) c.4657T>G (p.Leu1553Val) c.4288T>G (p.Leu1430Val) | dbSNP |
| 5 | g.112840731T= | CA1573474038 | APC | c.5191T= (p.Leu1731=) c.*5143T= (n.*5143T=) c.5083T= (p.Leu1695=) c.5137T= (p.Leu1713=) c.*4459T= (n.*4459T=) c.230+11759T= c.5167T= (p.Leu1723=) c.5062T= (p.Leu1688=) c.5053T= (p.Leu1685=) c.5014T= (p.Leu1672=) c.4960T= (p.Leu1654=) c.4864T= (p.Leu1622=) c.4834T= (p.Leu1612=) c.4759T= (p.Leu1587=) c.4657T= (p.Leu1553=) c.4288T= (p.Leu1430=) | |
| 5 | g.112840732T>A | CA16032558 | APC | c.5192T>A (p.Leu1731Ter) c.*5144T>A (n.*5144T>A) c.5084T>A (p.Leu1695Ter) c.5138T>A (p.Leu1713Ter) c.*4460T>A (n.*4460T>A) c.230+11760T>A c.5168T>A (p.Leu1723Ter) c.5063T>A (p.Leu1688Ter) c.5054T>A (p.Leu1685Ter) c.5015T>A (p.Leu1672Ter) c.4961T>A (p.Leu1654Ter) c.4865T>A (p.Leu1622Ter) c.4835T>A (p.Leu1612Ter) c.4760T>A (p.Leu1587Ter) c.4658T>A (p.Leu1553Ter) c.4289T>A (p.Leu1430Ter) | |
| 5 | g.112840732T>C | CA009879 | APC | c.5192T>C (p.Leu1731Ser) c.*5144T>C (n.*5144T>C) c.5084T>C (p.Leu1695Ser) c.5138T>C (p.Leu1713Ser) c.*4460T>C (n.*4460T>C) c.230+11760T>C c.5168T>C (p.Leu1723Ser) c.5063T>C (p.Leu1688Ser) c.5054T>C (p.Leu1685Ser) c.5015T>C (p.Leu1672Ser) c.4961T>C (p.Leu1654Ser) c.4865T>C (p.Leu1622Ser) c.4835T>C (p.Leu1612Ser) c.4760T>C (p.Leu1587Ser) c.4658T>C (p.Leu1553Ser) c.4289T>C (p.Leu1430Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112840732T>G | CA16032559 | APC | c.5192T>G (p.Leu1731Trp) c.*5144T>G (n.*5144T>G) c.5084T>G (p.Leu1695Trp) c.5138T>G (p.Leu1713Trp) c.*4460T>G (n.*4460T>G) c.230+11760T>G c.5168T>G (p.Leu1723Trp) c.5063T>G (p.Leu1688Trp) c.5054T>G (p.Leu1685Trp) c.5015T>G (p.Leu1672Trp) c.4961T>G (p.Leu1654Trp) c.4865T>G (p.Leu1622Trp) c.4835T>G (p.Leu1612Trp) c.4760T>G (p.Leu1587Trp) c.4658T>G (p.Leu1553Trp) c.4289T>G (p.Leu1430Trp) | |
| 5 | g.112840732T= | CA1573474050 | APC | c.5192T= (p.Leu1731=) c.*5144T= (n.*5144T=) c.5084T= (p.Leu1695=) c.5138T= (p.Leu1713=) c.*4460T= (n.*4460T=) c.230+11760T= c.5168T= (p.Leu1723=) c.5063T= (p.Leu1688=) c.5054T= (p.Leu1685=) c.5015T= (p.Leu1672=) c.4961T= (p.Leu1654=) c.4865T= (p.Leu1622=) c.4835T= (p.Leu1612=) c.4760T= (p.Leu1587=) c.4658T= (p.Leu1553=) c.4289T= (p.Leu1430=) | |
| 5 | g.112840733G>A | CA446209605 | APC | c.5193G>A (p.Leu1731=) c.*5145G>A (n.*5145G>A) c.5085G>A (p.Leu1695=) c.5139G>A (p.Leu1713=) c.*4461G>A (n.*4461G>A) c.230+11761G>A c.5169G>A (p.Leu1723=) c.5064G>A (p.Leu1688=) c.5055G>A (p.Leu1685=) c.5016G>A (p.Leu1672=) c.4962G>A (p.Leu1654=) c.4866G>A (p.Leu1622=) c.4836G>A (p.Leu1612=) c.4761G>A (p.Leu1587=) c.4659G>A (p.Leu1553=) c.4290G>A (p.Leu1430=) | ClinVar dbSNP |
| 5 | g.112840733G>C | CA16032560 | APC | c.5193G>C (p.Leu1731Phe) c.*5145G>C (n.*5145G>C) c.5085G>C (p.Leu1695Phe) c.5139G>C (p.Leu1713Phe) c.*4461G>C (n.*4461G>C) c.230+11761G>C c.5169G>C (p.Leu1723Phe) c.5064G>C (p.Leu1688Phe) c.5055G>C (p.Leu1685Phe) c.5016G>C (p.Leu1672Phe) c.4962G>C (p.Leu1654Phe) c.4866G>C (p.Leu1622Phe) c.4836G>C (p.Leu1612Phe) c.4761G>C (p.Leu1587Phe) c.4659G>C (p.Leu1553Phe) c.4290G>C (p.Leu1430Phe) | dbSNP gnomAD v4 |
| 5 | g.112840733G>T | CA16032561 | APC | c.5193G>T (p.Leu1731Phe) c.*5145G>T (n.*5145G>T) c.5085G>T (p.Leu1695Phe) c.5139G>T (p.Leu1713Phe) c.*4461G>T (n.*4461G>T) c.230+11761G>T c.5169G>T (p.Leu1723Phe) c.5064G>T (p.Leu1688Phe) c.5055G>T (p.Leu1685Phe) c.5016G>T (p.Leu1672Phe) c.4962G>T (p.Leu1654Phe) c.4866G>T (p.Leu1622Phe) c.4836G>T (p.Leu1612Phe) c.4761G>T (p.Leu1587Phe) c.4659G>T (p.Leu1553Phe) c.4290G>T (p.Leu1430Phe) | dbSNP |
| 5 | g.112840734G>A | CA009886 | APC | c.5194G>A (p.Asp1732Asn) c.*5146G>A (n.*5146G>A) c.5086G>A (p.Asp1696Asn) c.5140G>A (p.Asp1714Asn) c.*4462G>A (n.*4462G>A) c.230+11762G>A c.5170G>A (p.Asp1724Asn) c.5065G>A (p.Asp1689Asn) c.5056G>A (p.Asp1686Asn) c.5017G>A (p.Asp1673Asn) c.4963G>A (p.Asp1655Asn) c.4867G>A (p.Asp1623Asn) c.4837G>A (p.Asp1613Asn) c.4762G>A (p.Asp1588Asn) c.4660G>A (p.Asp1554Asn) c.4291G>A (p.Asp1431Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112840734G>C | CA338323 | APC | c.5194G>C (p.Asp1732His) c.*5146G>C (n.*5146G>C) c.5086G>C (p.Asp1696His) c.5140G>C (p.Asp1714His) c.*4462G>C (n.*4462G>C) c.230+11762G>C c.5170G>C (p.Asp1724His) c.5065G>C (p.Asp1689His) c.5056G>C (p.Asp1686His) c.5017G>C (p.Asp1673His) c.4963G>C (p.Asp1655His) c.4867G>C (p.Asp1623His) c.4837G>C (p.Asp1613His) c.4762G>C (p.Asp1588His) c.4660G>C (p.Asp1554His) c.4291G>C (p.Asp1431His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.112840734G= | CA1573474060 | APC | c.5194G= (p.Asp1732=) c.*5146G= (n.*5146G=) c.5086G= (p.Asp1696=) c.5140G= (p.Asp1714=) c.*4462G= (n.*4462G=) c.230+11762G= c.5170G= (p.Asp1724=) c.5065G= (p.Asp1689=) c.5056G= (p.Asp1686=) c.5017G= (p.Asp1673=) c.4963G= (p.Asp1655=) c.4867G= (p.Asp1623=) c.4837G= (p.Asp1613=) c.4762G= (p.Asp1588=) c.4660G= (p.Asp1554=) c.4291G= (p.Asp1431=) | |
| 5 | g.112840734G>T | CA16032562 | APC | c.5194G>T (p.Asp1732Tyr) c.*5146G>T (n.*5146G>T) c.5086G>T (p.Asp1696Tyr) c.5140G>T (p.Asp1714Tyr) c.*4462G>T (n.*4462G>T) c.230+11762G>T c.5170G>T (p.Asp1724Tyr) c.5065G>T (p.Asp1689Tyr) c.5056G>T (p.Asp1686Tyr) c.5017G>T (p.Asp1673Tyr) c.4963G>T (p.Asp1655Tyr) c.4867G>T (p.Asp1623Tyr) c.4837G>T (p.Asp1613Tyr) c.4762G>T (p.Asp1588Tyr) c.4660G>T (p.Asp1554Tyr) c.4291G>T (p.Asp1431Tyr) | dbSNP gnomAD v4 COSMIC |
| 5 | g.112840735del | CA2580072619 | APC | c.5195del (p.Asp1732ValfsTer30) c.*5147del (n.*5147del) c.5087del (p.Asp1696ValfsTer30) c.5141del (p.Asp1714ValfsTer30) c.*4463del (n.*4463del) c.230+11763del c.5171del (p.Asp1724ValfsTer30) c.5066del (p.Asp1689ValfsTer30) c.5057del (p.Asp1686ValfsTer30) c.5018del (p.Asp1673ValfsTer30) c.4964del (p.Asp1655ValfsTer30) c.4868del (p.Asp1623ValfsTer30) c.4838del (p.Asp1613ValfsTer30) c.4763del (p.Asp1588ValfsTer30) c.4661del (p.Asp1554ValfsTer30) c.4292del (p.Asp1431ValfsTer30) | ClinVar |
| 5 | g.112840735A= | CA1573474070 | APC | c.5195A= (p.Asp1732=) c.*5147A= (n.*5147A=) c.5087A= (p.Asp1696=) c.5141A= (p.Asp1714=) c.*4463A= (n.*4463A=) c.230+11763A= c.5171A= (p.Asp1724=) c.5066A= (p.Asp1689=) c.5057A= (p.Asp1686=) c.5018A= (p.Asp1673=) c.4964A= (p.Asp1655=) c.4868A= (p.Asp1623=) c.4838A= (p.Asp1613=) c.4763A= (p.Asp1588=) c.4661A= (p.Asp1554=) c.4292A= (p.Asp1431=) | |
| 5 | g.112840735A>C | CA16032563 | APC | c.5195A>C (p.Asp1732Ala) c.*5147A>C (n.*5147A>C) c.5087A>C (p.Asp1696Ala) c.5141A>C (p.Asp1714Ala) c.*4463A>C (n.*4463A>C) c.230+11763A>C c.5171A>C (p.Asp1724Ala) c.5066A>C (p.Asp1689Ala) c.5057A>C (p.Asp1686Ala) c.5018A>C (p.Asp1673Ala) c.4964A>C (p.Asp1655Ala) c.4868A>C (p.Asp1623Ala) c.4838A>C (p.Asp1613Ala) c.4763A>C (p.Asp1588Ala) c.4661A>C (p.Asp1554Ala) c.4292A>C (p.Asp1431Ala) | dbSNP |
| 5 | g.112840735A>G | CA16032564 | APC | c.5195A>G (p.Asp1732Gly) c.*5147A>G (n.*5147A>G) c.5087A>G (p.Asp1696Gly) c.5141A>G (p.Asp1714Gly) c.*4463A>G (n.*4463A>G) c.230+11763A>G c.5171A>G (p.Asp1724Gly) c.5066A>G (p.Asp1689Gly) c.5057A>G (p.Asp1686Gly) c.5018A>G (p.Asp1673Gly) c.4964A>G (p.Asp1655Gly) c.4868A>G (p.Asp1623Gly) c.4838A>G (p.Asp1613Gly) c.4763A>G (p.Asp1588Gly) c.4661A>G (p.Asp1554Gly) c.4292A>G (p.Asp1431Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.112840735A>T | CA16032565 | APC | c.5195A>T (p.Asp1732Val) c.*5147A>T (n.*5147A>T) c.5087A>T (p.Asp1696Val) c.5141A>T (p.Asp1714Val) c.*4463A>T (n.*4463A>T) c.230+11763A>T c.5171A>T (p.Asp1724Val) c.5066A>T (p.Asp1689Val) c.5057A>T (p.Asp1686Val) c.5018A>T (p.Asp1673Val) c.4964A>T (p.Asp1655Val) c.4868A>T (p.Asp1623Val) c.4838A>T (p.Asp1613Val) c.4763A>T (p.Asp1588Val) c.4661A>T (p.Asp1554Val) c.4292A>T (p.Asp1431Val) | dbSNP |
| 5 | g.112840736T>A | CA16032566 | APC | c.5196T>A (p.Asp1732Glu) c.*5148T>A (n.*5148T>A) c.5088T>A (p.Asp1696Glu) c.5142T>A (p.Asp1714Glu) c.*4464T>A (n.*4464T>A) c.230+11764T>A c.5172T>A (p.Asp1724Glu) c.5067T>A (p.Asp1689Glu) c.5058T>A (p.Asp1686Glu) c.5019T>A (p.Asp1673Glu) c.4965T>A (p.Asp1655Glu) c.4869T>A (p.Asp1623Glu) c.4839T>A (p.Asp1613Glu) c.4764T>A (p.Asp1588Glu) c.4662T>A (p.Asp1554Glu) c.4293T>A (p.Asp1431Glu) | ClinVar dbSNP |
| 5 | g.112840736T>C | CA446209606 | APC | c.5196T>C (p.Asp1732=) c.*5148T>C (n.*5148T>C) c.5088T>C (p.Asp1696=) c.5142T>C (p.Asp1714=) c.*4464T>C (n.*4464T>C) c.230+11764T>C c.5172T>C (p.Asp1724=) c.5067T>C (p.Asp1689=) c.5058T>C (p.Asp1686=) c.5019T>C (p.Asp1673=) c.4965T>C (p.Asp1655=) c.4869T>C (p.Asp1623=) c.4839T>C (p.Asp1613=) c.4764T>C (p.Asp1588=) c.4662T>C (p.Asp1554=) c.4293T>C (p.Asp1431=) | ClinVar gnomAD v4 |
| 5 | g.112840736T>G | CA16032567 | APC | c.5196T>G (p.Asp1732Glu) c.*5148T>G (n.*5148T>G) c.5088T>G (p.Asp1696Glu) c.5142T>G (p.Asp1714Glu) c.*4464T>G (n.*4464T>G) c.230+11764T>G c.5172T>G (p.Asp1724Glu) c.5067T>G (p.Asp1689Glu) c.5058T>G (p.Asp1686Glu) c.5019T>G (p.Asp1673Glu) c.4965T>G (p.Asp1655Glu) c.4869T>G (p.Asp1623Glu) c.4839T>G (p.Asp1613Glu) c.4764T>G (p.Asp1588Glu) c.4662T>G (p.Asp1554Glu) c.4293T>G (p.Asp1431Glu) | dbSNP |
| 5 | g.112840736T= | CA1573474086 | APC | c.5196T= (p.Asp1732=) c.*5148T= (n.*5148T=) c.5088T= (p.Asp1696=) c.5142T= (p.Asp1714=) c.*4464T= (n.*4464T=) c.230+11764T= c.5172T= (p.Asp1724=) c.5067T= (p.Asp1689=) c.5058T= (p.Asp1686=) c.5019T= (p.Asp1673=) c.4965T= (p.Asp1655=) c.4869T= (p.Asp1623=) c.4839T= (p.Asp1613=) c.4764T= (p.Asp1588=) c.4662T= (p.Asp1554=) c.4293T= (p.Asp1431=) | |
| 5 | g.112840737G>A | CA16032568 | APC | c.5197G>A (p.Asp1733Asn) c.*5149G>A (n.*5149G>A) c.5089G>A (p.Asp1697Asn) c.5143G>A (p.Asp1715Asn) c.*4465G>A (n.*4465G>A) c.230+11765G>A c.5173G>A (p.Asp1725Asn) c.5068G>A (p.Asp1690Asn) c.5059G>A (p.Asp1687Asn) c.5020G>A (p.Asp1674Asn) c.4966G>A (p.Asp1656Asn) c.4870G>A (p.Asp1624Asn) c.4840G>A (p.Asp1614Asn) c.4765G>A (p.Asp1589Asn) c.4663G>A (p.Asp1555Asn) c.4294G>A (p.Asp1432Asn) | ClinVar dbSNP |
| 5 | g.112840737G>C | CA16032569 | APC | c.5197G>C (p.Asp1733His) c.*5149G>C (n.*5149G>C) c.5089G>C (p.Asp1697His) c.5143G>C (p.Asp1715His) c.*4465G>C (n.*4465G>C) c.230+11765G>C c.5173G>C (p.Asp1725His) c.5068G>C (p.Asp1690His) c.5059G>C (p.Asp1687His) c.5020G>C (p.Asp1674His) c.4966G>C (p.Asp1656His) c.4870G>C (p.Asp1624His) c.4840G>C (p.Asp1614His) c.4765G>C (p.Asp1589His) c.4663G>C (p.Asp1555His) c.4294G>C (p.Asp1432His) | dbSNP |
| 5 | g.112840737G>T | CA16032570 | APC | c.5197G>T (p.Asp1733Tyr) c.*5149G>T (n.*5149G>T) c.5089G>T (p.Asp1697Tyr) c.5143G>T (p.Asp1715Tyr) c.*4465G>T (n.*4465G>T) c.230+11765G>T c.5173G>T (p.Asp1725Tyr) c.5068G>T (p.Asp1690Tyr) c.5059G>T (p.Asp1687Tyr) c.5020G>T (p.Asp1674Tyr) c.4966G>T (p.Asp1656Tyr) c.4870G>T (p.Asp1624Tyr) c.4840G>T (p.Asp1614Tyr) c.4765G>T (p.Asp1589Tyr) c.4663G>T (p.Asp1555Tyr) c.4294G>T (p.Asp1432Tyr) | |
| 5 | g.112840738A>C | CA16032571 | APC | c.5198A>C (p.Asp1733Ala) c.*5150A>C (n.*5150A>C) c.5090A>C (p.Asp1697Ala) c.5144A>C (p.Asp1715Ala) c.*4466A>C (n.*4466A>C) c.230+11766A>C c.5174A>C (p.Asp1725Ala) c.5069A>C (p.Asp1690Ala) c.5060A>C (p.Asp1687Ala) c.5021A>C (p.Asp1674Ala) c.4967A>C (p.Asp1656Ala) c.4871A>C (p.Asp1624Ala) c.4841A>C (p.Asp1614Ala) c.4766A>C (p.Asp1589Ala) c.4664A>C (p.Asp1555Ala) c.4295A>C (p.Asp1432Ala) | |
| 5 | g.112840738A>G | CA16032572 | APC | c.5198A>G (p.Asp1733Gly) c.*5150A>G (n.*5150A>G) c.5090A>G (p.Asp1697Gly) c.5144A>G (p.Asp1715Gly) c.*4466A>G (n.*4466A>G) c.230+11766A>G c.5174A>G (p.Asp1725Gly) c.5069A>G (p.Asp1690Gly) c.5060A>G (p.Asp1687Gly) c.5021A>G (p.Asp1674Gly) c.4967A>G (p.Asp1656Gly) c.4871A>G (p.Asp1624Gly) c.4841A>G (p.Asp1614Gly) c.4766A>G (p.Asp1589Gly) c.4664A>G (p.Asp1555Gly) c.4295A>G (p.Asp1432Gly) | ClinVar dbSNP |
| 5 | g.112840738A>T | CA16032573 | APC | c.5198A>T (p.Asp1733Val) c.*5150A>T (n.*5150A>T) c.5090A>T (p.Asp1697Val) c.5144A>T (p.Asp1715Val) c.*4466A>T (n.*4466A>T) c.230+11766A>T c.5174A>T (p.Asp1725Val) c.5069A>T (p.Asp1690Val) c.5060A>T (p.Asp1687Val) c.5021A>T (p.Asp1674Val) c.4967A>T (p.Asp1656Val) c.4871A>T (p.Asp1624Val) c.4841A>T (p.Asp1614Val) c.4766A>T (p.Asp1589Val) c.4664A>T (p.Asp1555Val) c.4295A>T (p.Asp1432Val) | |
| 5 | g.112840738_112840739delinsAC | CA1573474090 | APC | c.5198_5199delinsAC (p.Asp1733=) c.*5150_*5151delinsAC (n.*5150_*5151delinsAC) c.5090_5091delinsAC (p.Asp1697=) c.5144_5145delinsAC (p.Asp1715=) c.*4466_*4467delinsAC (n.*4466_*4467delinsAC) c.230+11766_230+11767delinsAC c.5174_5175delinsAC (p.Asp1725=) c.5069_5070delinsAC (p.Asp1690=) c.5060_5061delinsAC (p.Asp1687=) c.5021_5022delinsAC (p.Asp1674=) c.4967_4968delinsAC (p.Asp1656=) c.4871_4872delinsAC (p.Asp1624=) c.4841_4842delinsAC (p.Asp1614=) c.4766_4767delinsAC (p.Asp1589=) c.4664_4665delinsAC (p.Asp1555=) c.4295_4296delinsAC (p.Asp1432=) | |
| 5 | g.112840739del | CA279714 | APC | c.5199del (p.Asp1733GlufsTer29) c.*5151del (n.*5151del) c.5091del (p.Asp1697GlufsTer29) c.5145del (p.Asp1715GlufsTer29) c.*4467del (n.*4467del) c.230+11767del c.5175del (p.Asp1725GlufsTer29) c.5070del (p.Asp1690GlufsTer29) c.5061del (p.Asp1687GlufsTer29) c.5022del (p.Asp1674GlufsTer29) c.4968del (p.Asp1656GlufsTer29) c.4872del (p.Asp1624GlufsTer29) c.4842del (p.Asp1614GlufsTer29) c.4767del (p.Asp1589GlufsTer29) c.4665del (p.Asp1555GlufsTer29) c.4296del (p.Asp1432GlufsTer29) | ClinVar dbSNP |
| 5 | g.112840739C>A | CA16032574 | APC | c.5199C>A (p.Asp1733Glu) c.*5151C>A (n.*5151C>A) c.5091C>A (p.Asp1697Glu) c.5145C>A (p.Asp1715Glu) c.*4467C>A (n.*4467C>A) c.230+11767C>A c.5175C>A (p.Asp1725Glu) c.5070C>A (p.Asp1690Glu) c.5061C>A (p.Asp1687Glu) c.5022C>A (p.Asp1674Glu) c.4968C>A (p.Asp1656Glu) c.4872C>A (p.Asp1624Glu) c.4842C>A (p.Asp1614Glu) c.4767C>A (p.Asp1589Glu) c.4665C>A (p.Asp1555Glu) c.4296C>A (p.Asp1432Glu) | ClinVar dbSNP |
| 5 | g.112840739C= | CA1573474101 | APC | c.5199C= (p.Asp1733=) c.*5151C= (n.*5151C=) c.5091C= (p.Asp1697=) c.5145C= (p.Asp1715=) c.*4467C= (n.*4467C=) c.230+11767C= c.5175C= (p.Asp1725=) c.5070C= (p.Asp1690=) c.5061C= (p.Asp1687=) c.5022C= (p.Asp1674=) c.4968C= (p.Asp1656=) c.4872C= (p.Asp1624=) c.4842C= (p.Asp1614=) c.4767C= (p.Asp1589=) c.4665C= (p.Asp1555=) c.4296C= (p.Asp1432=) | |
| 5 | g.112840739C>G | CA16032575 | APC | c.5199C>G (p.Asp1733Glu) c.*5151C>G (n.*5151C>G) c.5091C>G (p.Asp1697Glu) c.5145C>G (p.Asp1715Glu) c.*4467C>G (n.*4467C>G) c.230+11767C>G c.5175C>G (p.Asp1725Glu) c.5070C>G (p.Asp1690Glu) c.5061C>G (p.Asp1687Glu) c.5022C>G (p.Asp1674Glu) c.4968C>G (p.Asp1656Glu) c.4872C>G (p.Asp1624Glu) c.4842C>G (p.Asp1614Glu) c.4767C>G (p.Asp1589Glu) c.4665C>G (p.Asp1555Glu) c.4296C>G (p.Asp1432Glu) | ClinVar dbSNP |
| 5 | g.112840739C>T | CA446209607 | APC | c.5199C>T (p.Asp1733=) c.*5151C>T (n.*5151C>T) c.5091C>T (p.Asp1697=) c.5145C>T (p.Asp1715=) c.*4467C>T (n.*4467C>T) c.230+11767C>T c.5175C>T (p.Asp1725=) c.5070C>T (p.Asp1690=) c.5061C>T (p.Asp1687=) c.5022C>T (p.Asp1674=) c.4968C>T (p.Asp1656=) c.4872C>T (p.Asp1624=) c.4842C>T (p.Asp1614=) c.4767C>T (p.Asp1589=) c.4665C>T (p.Asp1555=) c.4296C>T (p.Asp1432=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112840740A= | CA1573474109 | APC | c.5200A= (p.Asn1734=) c.*5152A= (n.*5152A=) c.5092A= (p.Asn1698=) c.5146A= (p.Asn1716=) c.*4468A= (n.*4468A=) c.230+11768A= c.5176A= (p.Asn1726=) c.5071A= (p.Asn1691=) c.5062A= (p.Asn1688=) c.5023A= (p.Asn1675=) c.4969A= (p.Asn1657=) c.4873A= (p.Asn1625=) c.4843A= (p.Asn1615=) c.4768A= (p.Asn1590=) c.4666A= (p.Asn1556=) c.4297A= (p.Asn1433=) | |
| 5 | g.112840740A>C | CA16032576 | APC | c.5200A>C (p.Asn1734His) c.*5152A>C (n.*5152A>C) c.5092A>C (p.Asn1698His) c.5146A>C (p.Asn1716His) c.*4468A>C (n.*4468A>C) c.230+11768A>C c.5176A>C (p.Asn1726His) c.5071A>C (p.Asn1691His) c.5062A>C (p.Asn1688His) c.5023A>C (p.Asn1675His) c.4969A>C (p.Asn1657His) c.4873A>C (p.Asn1625His) c.4843A>C (p.Asn1615His) c.4768A>C (p.Asn1590His) c.4666A>C (p.Asn1556His) c.4297A>C (p.Asn1433His) | dbSNP |
| 5 | g.112840740A>G | CA16032577 | APC | c.5200A>G (p.Asn1734Asp) c.*5152A>G (n.*5152A>G) c.5092A>G (p.Asn1698Asp) c.5146A>G (p.Asn1716Asp) c.*4468A>G (n.*4468A>G) c.230+11768A>G c.5176A>G (p.Asn1726Asp) c.5071A>G (p.Asn1691Asp) c.5062A>G (p.Asn1688Asp) c.5023A>G (p.Asn1675Asp) c.4969A>G (p.Asn1657Asp) c.4873A>G (p.Asn1625Asp) c.4843A>G (p.Asn1615Asp) c.4768A>G (p.Asn1590Asp) c.4666A>G (p.Asn1556Asp) c.4297A>G (p.Asn1433Asp) | dbSNP |
| 5 | g.112840740A>T | CA16032578 | APC | c.5200A>T (p.Asn1734Tyr) c.*5152A>T (n.*5152A>T) c.5092A>T (p.Asn1698Tyr) c.5146A>T (p.Asn1716Tyr) c.*4468A>T (n.*4468A>T) c.230+11768A>T c.5176A>T (p.Asn1726Tyr) c.5071A>T (p.Asn1691Tyr) c.5062A>T (p.Asn1688Tyr) c.5023A>T (p.Asn1675Tyr) c.4969A>T (p.Asn1657Tyr) c.4873A>T (p.Asn1625Tyr) c.4843A>T (p.Asn1615Tyr) c.4768A>T (p.Asn1590Tyr) c.4666A>T (p.Asn1556Tyr) c.4297A>T (p.Asn1433Tyr) | dbSNP |
| 5 | g.112840742_112840745del | CA2573138671 | APC | c.5202_5205del (p.Asn1734LysfsTer27) c.*5154_*5157del (n.*5154_*5157del) c.5094_5097del (p.Asn1698LysfsTer27) c.5148_5151del (p.Asn1716LysfsTer27) c.*4470_*4473del (n.*4470_*4473del) c.230+11770_230+11773del c.5178_5181del (p.Asn1726LysfsTer27) c.5073_5076del (p.Asn1691LysfsTer27) c.5064_5067del (p.Asn1688LysfsTer27) c.5025_5028del (p.Asn1675LysfsTer27) c.4971_4974del (p.Asn1657LysfsTer27) c.4875_4878del (p.Asn1625LysfsTer27) c.4845_4848del (p.Asn1615LysfsTer27) c.4770_4773del (p.Asn1590LysfsTer27) c.4668_4671del (p.Asn1556LysfsTer27) c.4299_4302del (p.Asn1433LysfsTer27) | ClinVar dbSNP |