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 |
|---|---|---|---|---|---|
| 6 | g.36685744_36685745del | CA824303287 | CDKN1A | c.446-7_446-6del (n.446-7_446-6del) c.548-7_548-6del (n.548-7_548-6del) c.485-7_485-6del (n.485-7_485-6del) c.545-7_545-6del (n.545-7_545-6del) c.*234_*235del (n.*234_*235del) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.36685744T>G | CA449976425 | CDKN1A | c.446-7T>G (n.446-7T>G) c.548-7T>G (n.548-7T>G) c.485-7T>G (n.485-7T>G) c.545-7T>G (n.545-7T>G) c.*234T>G (n.*234T>G) | dbSNP |
| 6 | g.36685744T= | CA1621457555 | CDKN1A | c.446-7T= (n.446-7T=) c.548-7T= (n.548-7T=) c.485-7T= (n.485-7T=) c.545-7T= (n.545-7T=) c.*234T= (n.*234T=) | |
| 6 | g.36685745C= | CA1621457557 | CDKN1A | c.446-6C= (n.446-6C=) c.548-6C= (n.548-6C=) c.485-6C= (n.485-6C=) c.545-6C= (n.545-6C=) c.*235C= (n.*235C=) | |
| 6 | g.36685745C>T | CA1621457556 | CDKN1A | c.446-6C>T (n.446-6C>T) c.548-6C>T (n.548-6C>T) c.485-6C>T (n.485-6C>T) c.545-6C>T (n.545-6C>T) c.*235C>T (n.*235C>T) | dbSNP |
| 6 | g.36685746C= | CA1621457558 | CDKN1A | c.446-5C= (n.446-5C=) c.548-5C= (n.548-5C=) c.485-5C= (n.485-5C=) c.545-5C= (n.545-5C=) c.*236C= (n.*236C=) | |
| 6 | g.36685746C>T | CA566531960 | CDKN1A | c.446-5C>T (n.446-5C>T) c.548-5C>T (n.548-5C>T) c.485-5C>T (n.485-5C>T) c.545-5C>T (n.545-5C>T) c.*236C>T (n.*236C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.36685747T>C | CA566531961 | CDKN1A | c.446-4T>C (n.446-4T>C) c.548-4T>C (n.548-4T>C) c.485-4T>C (n.485-4T>C) c.545-4T>C (n.545-4T>C) c.*237T>C (n.*237T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.36685747T= | CA1621457559 | CDKN1A | c.446-4T= (n.446-4T=) c.548-4T= (n.548-4T=) c.485-4T= (n.485-4T=) c.545-4T= (n.545-4T=) c.*237T= (n.*237T=) | |
| 6 | g.36685748C= | CA1621457560 | CDKN1A | c.446-3C= (n.446-3C=) c.548-3C= (n.548-3C=) c.485-3C= (n.485-3C=) c.545-3C= (n.545-3C=) c.*238C= (n.*238C=) | |
| 6 | g.36685748C>G | CA913203373 | CDKN1A | c.446-3C>G (n.446-3C>G) c.548-3C>G (n.548-3C>G) c.485-3C>G (n.485-3C>G) c.545-3C>G (n.545-3C>G) c.*238C>G (n.*238C>G) | ClinVar dbSNP |
| 6 | g.36685748C>T | CA3780434 | CDKN1A | c.446-3C>T (n.446-3C>T) c.548-3C>T (n.548-3C>T) c.485-3C>T (n.485-3C>T) c.545-3C>T (n.545-3C>T) c.*238C>T (n.*238C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.36685749A>C | CA363834733 | CDKN1A | c.446-2A>C (n.446-2A>C) c.548-2A>C (n.548-2A>C) c.485-2A>C (n.485-2A>C) c.545-2A>C (n.545-2A>C) c.*239A>C (n.*239A>C) | gnomAD v4 |
| 6 | g.36685749A>G | CA363834734 | CDKN1A | c.446-2A>G (n.446-2A>G) c.548-2A>G (n.548-2A>G) c.485-2A>G (n.485-2A>G) c.545-2A>G (n.545-2A>G) c.*239A>G (n.*239A>G) | gnomAD v4 |
| 6 | g.36685749A>T | CA363834735 | CDKN1A | c.446-2A>T (n.446-2A>T) c.548-2A>T (n.548-2A>T) c.485-2A>T (n.485-2A>T) c.545-2A>T (n.545-2A>T) c.*239A>T (n.*239A>T) | |
| 6 | g.36685750G>A | CA363834736 | CDKN1A | c.446-1G>A (n.446-1G>A) c.548-1G>A (n.548-1G>A) c.485-1G>A (n.485-1G>A) c.545-1G>A (n.545-1G>A) c.*240G>A (n.*240G>A) | |
| 6 | g.36685750G>C | CA363834737 | CDKN1A | c.446-1G>C (n.446-1G>C) c.548-1G>C (n.548-1G>C) c.485-1G>C (n.485-1G>C) c.545-1G>C (n.545-1G>C) c.*240G>C (n.*240G>C) | |
| 6 | g.36685750G>T | CA363834738 | CDKN1A | c.446-1G>T (n.446-1G>T) c.548-1G>T (n.548-1G>T) c.485-1G>T (n.485-1G>T) c.545-1G>T (n.545-1G>T) c.*240G>T (n.*240G>T) | |
| 6 | g.36685751A>C | CA363834739 | CDKN1A | c.446A>C (p.Asp149Ala) c.548A>C (p.Asp183Ala) c.485A>C (p.Asp162Ala) c.545A>C (p.Asp182Ala) c.*241A>C (n.*241A>C) | |
| 6 | g.36685751A>G | CA363834741 | CDKN1A | c.446A>G (p.Asp149Gly) c.548A>G (p.Asp183Gly) c.485A>G (p.Asp162Gly) c.545A>G (p.Asp182Gly) c.*241A>G (n.*241A>G) | |
| 6 | g.36685751A>T | CA363834740 | CDKN1A | c.446A>T (p.Asp149Val) c.548A>T (p.Asp183Val) c.485A>T (p.Asp162Val) c.545A>T (p.Asp182Val) c.*241A>T (n.*241A>T) | |
| 6 | g.36685752T>A | CA363834742 | CDKN1A | c.447T>A (p.Asp149Glu) c.549T>A (p.Asp183Glu) c.486T>A (p.Asp162Glu) c.546T>A (p.Asp182Glu) c.*242T>A (n.*242T>A) | |
| 6 | g.36685752T>C | CA3780435 | CDKN1A | c.447T>C (p.Asp149=) c.549T>C (p.Asp183=) c.486T>C (p.Asp162=) c.546T>C (p.Asp182=) c.*242T>C (n.*242T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.36685752T>G | CA363834743 | CDKN1A | c.447T>G (p.Asp149Glu) c.549T>G (p.Asp183Glu) c.486T>G (p.Asp162Glu) c.546T>G (p.Asp182Glu) c.*242T>G (n.*242T>G) | |
| 6 | g.36685752T= | CA1621457561 | CDKN1A | c.447T= (p.Asp149=) c.549T= (p.Asp183=) c.486T= (p.Asp162=) c.546T= (p.Asp182=) c.*242T= (n.*242T=) | |
| 6 | g.36685753T>A | CA363834744 | CDKN1A | c.448T>A (p.Phe150Ile) c.550T>A (p.Phe184Ile) c.487T>A (p.Phe163Ile) c.547T>A (p.Phe183Ile) c.*243T>A (n.*243T>A) | |
| 6 | g.36685753T>C | CA363834746 | CDKN1A | c.448T>C (p.Phe150Leu) c.550T>C (p.Phe184Leu) c.487T>C (p.Phe163Leu) c.547T>C (p.Phe183Leu) c.*243T>C (n.*243T>C) | |
| 6 | g.36685753T>G | CA363834745 | CDKN1A | c.448T>G (p.Phe150Val) c.550T>G (p.Phe184Val) c.487T>G (p.Phe163Val) c.547T>G (p.Phe183Val) c.*243T>G (n.*243T>G) | |
| 6 | g.36685754T>A | CA363834747 | CDKN1A | c.449T>A (p.Phe150Tyr) c.551T>A (p.Phe184Tyr) c.488T>A (p.Phe163Tyr) c.548T>A (p.Phe183Tyr) c.*244T>A (n.*244T>A) | |
| 6 | g.36685754T>C | CA363834749 | CDKN1A | c.449T>C (p.Phe150Ser) c.551T>C (p.Phe184Ser) c.488T>C (p.Phe163Ser) c.548T>C (p.Phe183Ser) c.*244T>C (n.*244T>C) | dbSNP |
| 6 | g.36685754T>G | CA363834748 | CDKN1A | c.449T>G (p.Phe150Cys) c.551T>G (p.Phe184Cys) c.488T>G (p.Phe163Cys) c.548T>G (p.Phe183Cys) c.*244T>G (n.*244T>G) | |
| 6 | g.36685755C>A | CA363834750 | CDKN1A | c.450C>A (p.Phe150Leu) c.552C>A (p.Phe184Leu) c.489C>A (p.Phe163Leu) c.549C>A (p.Phe183Leu) c.*245C>A (n.*245C>A) | |
| 6 | g.36685755C>G | CA363834751 | CDKN1A | c.450C>G (p.Phe150Leu) c.552C>G (p.Phe184Leu) c.489C>G (p.Phe163Leu) c.549C>G (p.Phe183Leu) c.*245C>G (n.*245C>G) | |
| 6 | g.36685755C>T | CA449976437 | CDKN1A | c.450C>T (p.Phe150=) c.552C>T (p.Phe184=) c.489C>T (p.Phe163=) c.549C>T (p.Phe183=) c.*245C>T (n.*245C>T) | |
| 6 | g.36685756T>A | CA363834752 | CDKN1A | c.451T>A (p.Tyr151Asn) c.553T>A (p.Tyr185Asn) c.490T>A (p.Tyr164Asn) c.550T>A (p.Tyr184Asn) c.*246T>A (n.*246T>A) | |
| 6 | g.36685756T>C | CA363834753 | CDKN1A | c.451T>C (p.Tyr151His) c.553T>C (p.Tyr185His) c.490T>C (p.Tyr164His) c.550T>C (p.Tyr184His) c.*246T>C (n.*246T>C) | |
| 6 | g.36685756T>G | CA363834754 | CDKN1A | c.451T>G (p.Tyr151Asp) c.553T>G (p.Tyr185Asp) c.490T>G (p.Tyr164Asp) c.550T>G (p.Tyr184Asp) c.*246T>G (n.*246T>G) | |
| 6 | g.36685757A= | CA1621457562 | CDKN1A | c.452A= (p.Tyr151=) c.554A= (p.Tyr185=) c.491A= (p.Tyr164=) c.551A= (p.Tyr184=) c.*247A= (n.*247A=) | |
| 6 | g.36685757A>C | CA363834755 | CDKN1A | c.452A>C (p.Tyr151Ser) c.554A>C (p.Tyr185Ser) c.491A>C (p.Tyr164Ser) c.551A>C (p.Tyr184Ser) c.*247A>C (n.*247A>C) | |
| 6 | g.36685757A>G | CA137424730 | CDKN1A | c.452A>G (p.Tyr151Cys) c.554A>G (p.Tyr185Cys) c.491A>G (p.Tyr164Cys) c.551A>G (p.Tyr184Cys) c.*247A>G (n.*247A>G) | dbSNP gnomAD v2 |
| 6 | g.36685757A>T | CA363834756 | CDKN1A | c.452A>T (p.Tyr151Phe) c.554A>T (p.Tyr185Phe) c.491A>T (p.Tyr164Phe) c.551A>T (p.Tyr184Phe) c.*247A>T (n.*247A>T) | |
| 6 | g.36685758C>A | CA363834757 | CDKN1A | c.453C>A (p.Tyr151Ter) c.555C>A (p.Tyr185Ter) c.492C>A (p.Tyr164Ter) c.552C>A (p.Tyr184Ter) c.*248C>A (n.*248C>A) | |
| 6 | g.36685758C>G | CA363834758 | CDKN1A | c.453C>G (p.Tyr151Ter) c.555C>G (p.Tyr185Ter) c.492C>G (p.Tyr164Ter) c.552C>G (p.Tyr184Ter) c.*248C>G (n.*248C>G) | |
| 6 | g.36685758C>T | CA449976444 | CDKN1A | c.453C>T (p.Tyr151=) c.555C>T (p.Tyr185=) c.492C>T (p.Tyr164=) c.552C>T (p.Tyr184=) c.*248C>T (n.*248C>T) | |
| 6 | g.36685759C>A | CA363834759 | CDKN1A | c.454C>A (p.His152Asn) c.556C>A (p.His186Asn) c.493C>A (p.His165Asn) c.553C>A (p.His185Asn) c.*249C>A (n.*249C>A) | |
| 6 | g.36685759C>G | CA363834760 | CDKN1A | c.454C>G (p.His152Asp) c.556C>G (p.His186Asp) c.493C>G (p.His165Asp) c.553C>G (p.His185Asp) c.*249C>G (n.*249C>G) | |
| 6 | g.36685759C>T | CA363834761 | CDKN1A | c.454C>T (p.His152Tyr) c.556C>T (p.His186Tyr) c.493C>T (p.His165Tyr) c.553C>T (p.His185Tyr) c.*249C>T (n.*249C>T) | dbSNP gnomAD v4 |
| 6 | g.36685760A>C | CA363834764 | CDKN1A | c.455A>C (p.His152Pro) c.557A>C (p.His186Pro) c.494A>C (p.His165Pro) c.554A>C (p.His185Pro) c.*250A>C (n.*250A>C) | |
| 6 | g.36685760A>G | CA363834762 | CDKN1A | c.455A>G (p.His152Arg) c.557A>G (p.His186Arg) c.494A>G (p.His165Arg) c.554A>G (p.His185Arg) c.*250A>G (n.*250A>G) | |
| 6 | g.36685760A>T | CA363834763 | CDKN1A | c.455A>T (p.His152Leu) c.557A>T (p.His186Leu) c.494A>T (p.His165Leu) c.554A>T (p.His185Leu) c.*250A>T (n.*250A>T) | |
| 6 | g.36685761C>A | CA363834765 | CDKN1A | c.456C>A (p.His152Gln) c.558C>A (p.His186Gln) c.495C>A (p.His165Gln) c.555C>A (p.His185Gln) c.*251C>A (n.*251C>A) | |
| 6 | g.36685761C>G | CA363834766 | CDKN1A | c.456C>G (p.His152Gln) c.558C>G (p.His186Gln) c.495C>G (p.His165Gln) c.555C>G (p.His185Gln) c.*251C>G (n.*251C>G) | |
| 6 | g.36685761C>T | CA449976451 | CDKN1A | c.456C>T (p.His152=) c.558C>T (p.His186=) c.495C>T (p.His165=) c.555C>T (p.His185=) c.*251C>T (n.*251C>T) | gnomAD v4 |
| 6 | g.36685762T>A | CA363834767 | CDKN1A | c.457T>A (p.Ser153Thr) c.559T>A (p.Ser187Thr) c.496T>A (p.Ser166Thr) c.556T>A (p.Ser186Thr) c.*252T>A (n.*252T>A) | |
| 6 | g.36685762T>C | CA363834768 | CDKN1A | c.457T>C (p.Ser153Pro) c.559T>C (p.Ser187Pro) c.496T>C (p.Ser166Pro) c.556T>C (p.Ser186Pro) c.*252T>C (n.*252T>C) | |
| 6 | g.36685762T>G | CA363834769 | CDKN1A | c.457T>G (p.Ser153Ala) c.559T>G (p.Ser187Ala) c.496T>G (p.Ser166Ala) c.556T>G (p.Ser186Ala) c.*252T>G (n.*252T>G) | |
| 6 | g.36685763C>A | CA363834770 | CDKN1A | c.458C>A (p.Ser153Tyr) c.560C>A (p.Ser187Tyr) c.497C>A (p.Ser166Tyr) c.557C>A (p.Ser186Tyr) c.*253C>A (n.*253C>A) | dbSNP gnomAD v4 |
| 6 | g.36685763C>G | CA363834771 | CDKN1A | c.458C>G (p.Ser153Cys) c.560C>G (p.Ser187Cys) c.497C>G (p.Ser166Cys) c.557C>G (p.Ser186Cys) c.*253C>G (n.*253C>G) | gnomAD v4 |
| 6 | g.36685763C>T | CA363834772 | CDKN1A | c.458C>T (p.Ser153Phe) c.560C>T (p.Ser187Phe) c.497C>T (p.Ser166Phe) c.557C>T (p.Ser186Phe) c.*253C>T (n.*253C>T) | |
| 6 | g.36685764C>A | CA449976457 | CDKN1A | c.459C>A (p.Ser153=) c.561C>A (p.Ser187=) c.498C>A (p.Ser166=) c.558C>A (p.Ser186=) c.*254C>A (n.*254C>A) | |
| 6 | g.36685764C= | CA1621457563 | CDKN1A | c.459C= (p.Ser153=) c.561C= (p.Ser187=) c.498C= (p.Ser166=) c.558C= (p.Ser186=) c.*254C= (n.*254C=) | |
| 6 | g.36685764C>G | CA449976459 | CDKN1A | c.459C>G (p.Ser153=) c.561C>G (p.Ser187=) c.498C>G (p.Ser166=) c.558C>G (p.Ser186=) c.*254C>G (n.*254C>G) | |
| 6 | g.36685764C>T | CA3780436 | CDKN1A | c.459C>T (p.Ser153=) c.561C>T (p.Ser187=) c.498C>T (p.Ser166=) c.558C>T (p.Ser186=) c.*254C>T (n.*254C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.36685765A>C | CA363834773 | CDKN1A | c.460A>C (p.Lys154Gln) c.562A>C (p.Lys188Gln) c.499A>C (p.Lys167Gln) c.559A>C (p.Lys187Gln) c.*255A>C (n.*255A>C) | |
| 6 | g.36685765A>G | CA363834774 | CDKN1A | c.460A>G (p.Lys154Glu) c.562A>G (p.Lys188Glu) c.499A>G (p.Lys167Glu) c.559A>G (p.Lys187Glu) c.*255A>G (n.*255A>G) | |
| 6 | g.36685765A>T | CA363834775 | CDKN1A | c.460A>T (p.Lys154Ter) c.562A>T (p.Lys188Ter) c.499A>T (p.Lys167Ter) c.559A>T (p.Lys187Ter) c.*255A>T (n.*255A>T) | |
| 6 | g.36685766A>C | CA363834776 | CDKN1A | c.461A>C (p.Lys154Thr) c.563A>C (p.Lys188Thr) c.500A>C (p.Lys167Thr) c.560A>C (p.Lys187Thr) c.*256A>C (n.*256A>C) | dbSNP |
| 6 | g.36685766A>G | CA363834778 | CDKN1A | c.461A>G (p.Lys154Arg) c.563A>G (p.Lys188Arg) c.500A>G (p.Lys167Arg) c.560A>G (p.Lys187Arg) c.*256A>G (n.*256A>G) | gnomAD v4 |
| 6 | g.36685766A>T | CA363834777 | CDKN1A | c.461A>T (p.Lys154Ile) c.563A>T (p.Lys188Ile) c.500A>T (p.Lys167Ile) c.560A>T (p.Lys187Ile) c.*256A>T (n.*256A>T) | dbSNP |
| 6 | g.36685767A= | CA1621457564 | CDKN1A | c.462A= (p.Lys154=) c.564A= (p.Lys188=) c.501A= (p.Lys167=) c.561A= (p.Lys187=) c.*257A= (n.*257A=) | |
| 6 | g.36685767A>C | CA363834779 | CDKN1A | c.462A>C (p.Lys154Asn) c.564A>C (p.Lys188Asn) c.501A>C (p.Lys167Asn) c.561A>C (p.Lys187Asn) c.*257A>C (n.*257A>C) | |
| 6 | g.36685767A>G | CA3780437 | CDKN1A | c.462A>G (p.Lys154=) c.564A>G (p.Lys188=) c.501A>G (p.Lys167=) c.561A>G (p.Lys187=) c.*257A>G (n.*257A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.36685767A>T | CA363834780 | CDKN1A | c.462A>T (p.Lys154Asn) c.564A>T (p.Lys188Asn) c.501A>T (p.Lys167Asn) c.561A>T (p.Lys187Asn) c.*257A>T (n.*257A>T) | |
| 6 | g.36685768C>A | CA363834781 | CDKN1A | c.463C>A (p.Arg155Ser) c.565C>A (p.Arg189Ser) c.502C>A (p.Arg168Ser) c.562C>A (p.Arg188Ser) c.*258C>A (n.*258C>A) | |
| 6 | g.36685768C= | CA1621457565 | CDKN1A | c.463C= (p.Arg155=) c.565C= (p.Arg189=) c.502C= (p.Arg168=) c.562C= (p.Arg188=) c.*258C= (n.*258C=) | |
| 6 | g.36685768C>G | CA363834782 | CDKN1A | c.463C>G (p.Arg155Gly) c.565C>G (p.Arg189Gly) c.502C>G (p.Arg168Gly) c.562C>G (p.Arg188Gly) c.*258C>G (n.*258C>G) | |
| 6 | g.36685768C>T | CA3780438 | CDKN1A | c.463C>T (p.Arg155Cys) c.565C>T (p.Arg189Cys) c.502C>T (p.Arg168Cys) c.562C>T (p.Arg188Cys) c.*258C>T (n.*258C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.36685769G>A | CA363834783 | CDKN1A | c.464G>A (p.Arg155His) c.566G>A (p.Arg189His) c.503G>A (p.Arg168His) c.563G>A (p.Arg188His) c.*259G>A (n.*259G>A) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 6 | g.36685769G>C | CA363834784 | CDKN1A | c.464G>C (p.Arg155Pro) c.566G>C (p.Arg189Pro) c.503G>C (p.Arg168Pro) c.563G>C (p.Arg188Pro) c.*259G>C (n.*259G>C) | dbSNP |
| 6 | g.36685769G= | CA1621457566 | CDKN1A | c.464G= (p.Arg155=) c.566G= (p.Arg189=) c.503G= (p.Arg168=) c.563G= (p.Arg188=) c.*259G= (n.*259G=) | |
| 6 | g.36685769G>T | CA363834785 | CDKN1A | c.464G>T (p.Arg155Leu) c.566G>T (p.Arg189Leu) c.503G>T (p.Arg168Leu) c.563G>T (p.Arg188Leu) c.*259G>T (n.*259G>T) | |
| 6 | g.36685770C>A | CA449976471 | CDKN1A | c.465C>A (p.Arg155=) c.567C>A (p.Arg189=) c.504C>A (p.Arg168=) c.564C>A (p.Arg188=) c.*260C>A (n.*260C>A) | |
| 6 | g.36685770C= | CA1621457567 | CDKN1A | c.465C= (p.Arg155=) c.567C= (p.Arg189=) c.504C= (p.Arg168=) c.564C= (p.Arg188=) c.*260C= (n.*260C=) | |
| 6 | g.36685770C>G | CA449976473 | CDKN1A | c.465C>G (p.Arg155=) c.567C>G (p.Arg189=) c.504C>G (p.Arg168=) c.564C>G (p.Arg188=) c.*260C>G (n.*260C>G) | |
| 6 | g.36685770C>T | CA137424762 | CDKN1A | c.465C>T (p.Arg155=) c.567C>T (p.Arg189=) c.504C>T (p.Arg168=) c.564C>T (p.Arg188=) c.*260C>T (n.*260C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.36685771C>A | CA449976475 | CDKN1A | c.466C>A (p.Arg156=) c.568C>A (p.Arg190=) c.505C>A (p.Arg169=) c.565C>A (p.Arg189=) c.*261C>A (n.*261C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.36685771C= | CA1621457568 | CDKN1A | c.466C= (p.Arg156=) c.568C= (p.Arg190=) c.505C= (p.Arg169=) c.565C= (p.Arg189=) c.*261C= (n.*261C=) | |
| 6 | g.36685771C>G | CA137424769 | CDKN1A | c.466C>G (p.Arg156Gly) c.568C>G (p.Arg190Gly) c.505C>G (p.Arg169Gly) c.565C>G (p.Arg189Gly) c.*261C>G (n.*261C>G) | dbSNP gnomAD v4 |
| 6 | g.36685771C>T | CA3780439 | CDKN1A | c.466C>T (p.Arg156Trp) c.568C>T (p.Arg190Trp) c.505C>T (p.Arg169Trp) c.565C>T (p.Arg189Trp) c.*261C>T (n.*261C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 6 | g.36685772G>A | CA3780440 | CDKN1A | c.467G>A (p.Arg156Gln) c.569G>A (p.Arg190Gln) c.506G>A (p.Arg169Gln) c.566G>A (p.Arg189Gln) c.*262G>A (n.*262G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.36685772G>C | CA363834787 | CDKN1A | c.467G>C (p.Arg156Pro) c.569G>C (p.Arg190Pro) c.506G>C (p.Arg169Pro) c.566G>C (p.Arg189Pro) c.*262G>C (n.*262G>C) | |
| 6 | g.36685772G= | CA1621457569 | CDKN1A | c.467G= (p.Arg156=) c.569G= (p.Arg190=) c.506G= (p.Arg169=) c.566G= (p.Arg189=) c.*262G= (n.*262G=) | |
| 6 | g.36685772G>T | CA363834786 | CDKN1A | c.467G>T (p.Arg156Leu) c.569G>T (p.Arg190Leu) c.506G>T (p.Arg169Leu) c.566G>T (p.Arg189Leu) c.*262G>T (n.*262G>T) | |
| 6 | g.36685773G>A | CA3780441 | CDKN1A | c.468G>A (p.Arg156=) c.570G>A (p.Arg190=) c.507G>A (p.Arg169=) c.567G>A (p.Arg189=) c.*263G>A (n.*263G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.36685773G>C | CA137424808 | CDKN1A | c.468G>C (p.Arg156=) c.570G>C (p.Arg190=) c.507G>C (p.Arg169=) c.567G>C (p.Arg189=) c.*263G>C (n.*263G>C) | dbSNP |
| 6 | g.36685773G= | CA1621457570 | CDKN1A | c.468G= (p.Arg156=) c.570G= (p.Arg190=) c.507G= (p.Arg169=) c.567G= (p.Arg189=) c.*263G= (n.*263G=) | |
| 6 | g.36685773G>T | CA137424825 | CDKN1A | c.468G>T (p.Arg156=) c.570G>T (p.Arg190=) c.507G>T (p.Arg169=) c.567G>T (p.Arg189=) c.*263G>T (n.*263G>T) | dbSNP gnomAD v4 |
| 6 | g.36685774C>A | CA363834788 | CDKN1A | c.469C>A (p.Leu157Met) c.571C>A (p.Leu191Met) c.508C>A (p.Leu170Met) c.568C>A (p.Leu190Met) c.*264C>A (n.*264C>A) | |
| 6 | g.36685774C>G | CA363834789 | CDKN1A | c.469C>G (p.Leu157Val) c.571C>G (p.Leu191Val) c.508C>G (p.Leu170Val) c.568C>G (p.Leu190Val) c.*264C>G (n.*264C>G) | dbSNP |
| 6 | g.36685774C>T | CA449976487 | CDKN1A | c.469C>T (p.Leu157=) c.571C>T (p.Leu191=) c.508C>T (p.Leu170=) c.568C>T (p.Leu190=) c.*264C>T (n.*264C>T) | gnomAD v4 |
| 6 | g.36685775T>A | CA363834790 | CDKN1A | c.470T>A (p.Leu157Gln) c.572T>A (p.Leu191Gln) c.509T>A (p.Leu170Gln) c.569T>A (p.Leu190Gln) c.*265T>A (n.*265T>A) | |
| 6 | g.36685775T>C | CA363834791 | CDKN1A | c.470T>C (p.Leu157Pro) c.572T>C (p.Leu191Pro) c.509T>C (p.Leu170Pro) c.569T>C (p.Leu190Pro) c.*265T>C (n.*265T>C) | |
| 6 | g.36685775T>G | CA363834792 | CDKN1A | c.470T>G (p.Leu157Arg) c.572T>G (p.Leu191Arg) c.509T>G (p.Leu170Arg) c.569T>G (p.Leu190Arg) c.*265T>G (n.*265T>G) | |
| 6 | g.36685776G>A | CA449976492 | CDKN1A | c.471G>A (p.Leu157=) c.573G>A (p.Leu191=) c.510G>A (p.Leu170=) c.570G>A (p.Leu190=) c.*266G>A (n.*266G>A) | |
| 6 | g.36685776G>C | CA449976494 | CDKN1A | c.471G>C (p.Leu157=) c.573G>C (p.Leu191=) c.510G>C (p.Leu170=) c.570G>C (p.Leu190=) c.*266G>C (n.*266G>C) | |
| 6 | g.36685776G>T | CA449976496 | CDKN1A | c.471G>T (p.Leu157=) c.573G>T (p.Leu191=) c.510G>T (p.Leu170=) c.570G>T (p.Leu190=) c.*266G>T (n.*266G>T) | |
| 6 | g.36685777A>C | CA363834793 | CDKN1A | c.472A>C (p.Ile158Leu) c.574A>C (p.Ile192Leu) c.511A>C (p.Ile171Leu) c.571A>C (p.Ile191Leu) c.*267A>C (n.*267A>C) | |
| 6 | g.36685777A>G | CA363834794 | CDKN1A | c.472A>G (p.Ile158Val) c.574A>G (p.Ile192Val) c.511A>G (p.Ile171Val) c.571A>G (p.Ile191Val) c.*267A>G (n.*267A>G) | |
| 6 | g.36685777A>T | CA363834795 | CDKN1A | c.472A>T (p.Ile158Phe) c.574A>T (p.Ile192Phe) c.511A>T (p.Ile171Phe) c.571A>T (p.Ile191Phe) c.*267A>T (n.*267A>T) | |
| 6 | g.36685778T>A | CA363834797 | CDKN1A | c.473T>A (p.Ile158Asn) c.575T>A (p.Ile192Asn) c.512T>A (p.Ile171Asn) c.572T>A (p.Ile191Asn) c.*268T>A (n.*268T>A) | |
| 6 | g.36685778T>C | CA363834798 | CDKN1A | c.473T>C (p.Ile158Thr) c.575T>C (p.Ile192Thr) c.512T>C (p.Ile171Thr) c.572T>C (p.Ile191Thr) c.*268T>C (n.*268T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.36685778T>G | CA363834796 | CDKN1A | c.473T>G (p.Ile158Ser) c.575T>G (p.Ile192Ser) c.512T>G (p.Ile171Ser) c.572T>G (p.Ile191Ser) c.*268T>G (n.*268T>G) | |
| 6 | g.36685778T= | CA1621457571 | CDKN1A | c.473T= (p.Ile158=) c.575T= (p.Ile192=) c.512T= (p.Ile171=) c.572T= (p.Ile191=) c.*268T= (n.*268T=) | |
| 6 | g.36685781_36685783del | CA2678467230 | CDKN1A | c.476_478del (p.Phe159del) c.578_580del (p.Phe193del) c.515_517del (p.Phe172del) c.575_577del (p.Phe192del) c.*271_*273del (n.*271_*273del) | gnomAD v4 |
| 6 | g.36685779C>A | CA449976507 | CDKN1A | c.474C>A (p.Ile158=) c.576C>A (p.Ile192=) c.513C>A (p.Ile171=) c.573C>A (p.Ile191=) c.*269C>A (n.*269C>A) | |
| 6 | g.36685779C= | CA1621457572 | CDKN1A | c.474C= (p.Ile158=) c.576C= (p.Ile192=) c.513C= (p.Ile171=) c.573C= (p.Ile191=) c.*269C= (n.*269C=) | |
| 6 | g.36685779C>G | CA363834799 | CDKN1A | c.474C>G (p.Ile158Met) c.576C>G (p.Ile192Met) c.513C>G (p.Ile171Met) c.573C>G (p.Ile191Met) c.*269C>G (n.*269C>G) | |
| 6 | g.36685779C>T | CA3780442 | CDKN1A | c.474C>T (p.Ile158=) c.576C>T (p.Ile192=) c.513C>T (p.Ile171=) c.573C>T (p.Ile191=) c.*269C>T (n.*269C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 6 | g.36685780T>A | CA363834800 | CDKN1A | c.475T>A (p.Phe159Ile) c.577T>A (p.Phe193Ile) c.514T>A (p.Phe172Ile) c.574T>A (p.Phe192Ile) c.*270T>A (n.*270T>A) | |
| 6 | g.36685780T>C | CA363834801 | CDKN1A | c.475T>C (p.Phe159Leu) c.577T>C (p.Phe193Leu) c.514T>C (p.Phe172Leu) c.574T>C (p.Phe192Leu) c.*270T>C (n.*270T>C) | |
| 6 | g.36685780T>G | CA363834802 | CDKN1A | c.475T>G (p.Phe159Val) c.577T>G (p.Phe193Val) c.514T>G (p.Phe172Val) c.574T>G (p.Phe192Val) c.*270T>G (n.*270T>G) | dbSNP |
| 6 | g.36685781T>A | CA363834803 | CDKN1A | c.476T>A (p.Phe159Tyr) c.578T>A (p.Phe193Tyr) c.515T>A (p.Phe172Tyr) c.575T>A (p.Phe192Tyr) c.*271T>A (n.*271T>A) | |
| 6 | g.36685781T>C | CA363834804 | CDKN1A | c.476T>C (p.Phe159Ser) c.578T>C (p.Phe193Ser) c.515T>C (p.Phe172Ser) c.575T>C (p.Phe192Ser) c.*271T>C (n.*271T>C) | |
| 6 | g.36685781T>G | CA363834805 | CDKN1A | c.476T>G (p.Phe159Cys) c.578T>G (p.Phe193Cys) c.515T>G (p.Phe172Cys) c.575T>G (p.Phe192Cys) c.*271T>G (n.*271T>G) | |
| 6 | g.36685782C>A | CA363834806 | CDKN1A | c.477C>A (p.Phe159Leu) c.579C>A (p.Phe193Leu) c.516C>A (p.Phe172Leu) c.576C>A (p.Phe192Leu) c.*272C>A (n.*272C>A) | |
| 6 | g.36685782C>G | CA363834807 | CDKN1A | c.477C>G (p.Phe159Leu) c.579C>G (p.Phe193Leu) c.516C>G (p.Phe172Leu) c.576C>G (p.Phe192Leu) c.*272C>G (n.*272C>G) | |
| 6 | g.36685782C>T | CA449976517 | CDKN1A | c.477C>T (p.Phe159=) c.579C>T (p.Phe193=) c.516C>T (p.Phe172=) c.576C>T (p.Phe192=) c.*272C>T (n.*272C>T) | |
| 6 | g.36685783T>A | CA363834808 | CDKN1A | c.478T>A (p.Ser160Thr) c.580T>A (p.Ser194Thr) c.517T>A (p.Ser173Thr) c.577T>A (p.Ser193Thr) c.*273T>A (n.*273T>A) | |
| 6 | g.36685783T>C | CA363834809 | CDKN1A | c.478T>C (p.Ser160Pro) c.580T>C (p.Ser194Pro) c.517T>C (p.Ser173Pro) c.577T>C (p.Ser193Pro) c.*273T>C (n.*273T>C) | |
| 6 | g.36685783T>G | CA363834810 | CDKN1A | c.478T>G (p.Ser160Ala) c.580T>G (p.Ser194Ala) c.517T>G (p.Ser173Ala) c.577T>G (p.Ser193Ala) c.*273T>G (n.*273T>G) | |
| 6 | g.36685784C>A | CA363834812 | CDKN1A | c.479C>A (p.Ser160Tyr) c.581C>A (p.Ser194Tyr) c.518C>A (p.Ser173Tyr) c.578C>A (p.Ser193Tyr) c.*274C>A (n.*274C>A) | |
| 6 | g.36685784C= | CA1621457573 | CDKN1A | c.479C= (p.Ser160=) c.581C= (p.Ser194=) c.518C= (p.Ser173=) c.578C= (p.Ser193=) c.*274C= (n.*274C=) | |
| 6 | g.36685784C>G | CA363834811 | CDKN1A | c.479C>G (p.Ser160Cys) c.581C>G (p.Ser194Cys) c.518C>G (p.Ser173Cys) c.578C>G (p.Ser193Cys) c.*274C>G (n.*274C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.36685784C>T | CA137424832 | CDKN1A | c.479C>T (p.Ser160Phe) c.581C>T (p.Ser194Phe) c.518C>T (p.Ser173Phe) c.578C>T (p.Ser193Phe) c.*274C>T (n.*274C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.36685785C>A | CA449976525 | CDKN1A | c.480C>A (p.Ser160=) c.582C>A (p.Ser194=) c.519C>A (p.Ser173=) c.579C>A (p.Ser193=) c.*275C>A (n.*275C>A) | |
| 6 | g.36685785C>G | CA449976526 | CDKN1A | c.480C>G (p.Ser160=) c.582C>G (p.Ser194=) c.519C>G (p.Ser173=) c.579C>G (p.Ser193=) c.*275C>G (n.*275C>G) | |
| 6 | g.36685785C>T | CA449976527 | CDKN1A | c.480C>T (p.Ser160=) c.582C>T (p.Ser194=) c.519C>T (p.Ser173=) c.579C>T (p.Ser193=) c.*275C>T (n.*275C>T) | gnomAD v4 |
| 6 | g.36685786A= | CA1621457574 | CDKN1A | c.481A= (p.Lys161=) c.583A= (p.Lys195=) c.520A= (p.Lys174=) c.580A= (p.Lys194=) c.*276A= (n.*276A=) | |
| 6 | g.36685786A>C | CA363834813 | CDKN1A | c.481A>C (p.Lys161Gln) c.583A>C (p.Lys195Gln) c.520A>C (p.Lys174Gln) c.580A>C (p.Lys194Gln) c.*276A>C (n.*276A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.36685786A>G | CA363834814 | CDKN1A | c.481A>G (p.Lys161Glu) c.583A>G (p.Lys195Glu) c.520A>G (p.Lys174Glu) c.580A>G (p.Lys194Glu) c.*276A>G (n.*276A>G) | |
| 6 | g.36685786A>T | CA363834815 | CDKN1A | c.481A>T (p.Lys161Ter) c.583A>T (p.Lys195Ter) c.520A>T (p.Lys174Ter) c.580A>T (p.Lys194Ter) c.*276A>T (n.*276A>T) | |
| 6 | g.36685787A= | CA1621457575 | CDKN1A | c.482A= (p.Lys161=) c.584A= (p.Lys195=) c.521A= (p.Lys174=) c.581A= (p.Lys194=) c.*277A= (n.*277A=) | |
| 6 | g.36685787A>C | CA363834816 | CDKN1A | c.482A>C (p.Lys161Thr) c.584A>C (p.Lys195Thr) c.521A>C (p.Lys174Thr) c.581A>C (p.Lys194Thr) c.*277A>C (n.*277A>C) | |
| 6 | g.36685787A>G | CA363834817 | CDKN1A | c.482A>G (p.Lys161Arg) c.584A>G (p.Lys195Arg) c.521A>G (p.Lys174Arg) c.581A>G (p.Lys194Arg) c.*277A>G (n.*277A>G) | dbSNP gnomAD v4 |
| 6 | g.36685787A>T | CA363834818 | CDKN1A | c.482A>T (p.Lys161Met) c.584A>T (p.Lys195Met) c.521A>T (p.Lys174Met) c.581A>T (p.Lys194Met) c.*277A>T (n.*277A>T) | |
| 6 | g.36685788G>A | CA449976537 | CDKN1A | c.483G>A (p.Lys161=) c.585G>A (p.Lys195=) c.522G>A (p.Lys174=) c.582G>A (p.Lys194=) c.*278G>A (n.*278G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.36685788G>C | CA363834819 | CDKN1A | c.483G>C (p.Lys161Asn) c.585G>C (p.Lys195Asn) c.522G>C (p.Lys174Asn) c.582G>C (p.Lys194Asn) c.*278G>C (n.*278G>C) | |
| 6 | g.36685788G= | CA1621457576 | CDKN1A | c.483G= (p.Lys161=) c.585G= (p.Lys195=) c.522G= (p.Lys174=) c.582G= (p.Lys194=) c.*278G= (n.*278G=) | |
| 6 | g.36685788G>T | CA363834820 | CDKN1A | c.483G>T (p.Lys161Asn) c.585G>T (p.Lys195Asn) c.522G>T (p.Lys174Asn) c.582G>T (p.Lys194Asn) c.*278G>T (n.*278G>T) | |
| 6 | g.36685789A>C | CA449976541 | CDKN1A | c.484A>C (p.Arg162=) c.586A>C (p.Arg196=) c.523A>C (p.Arg175=) c.583A>C (p.Arg195=) c.*279A>C (n.*279A>C) | |
| 6 | g.36685789A>G | CA363834821 | CDKN1A | c.484A>G (p.Arg162Gly) c.586A>G (p.Arg196Gly) c.523A>G (p.Arg175Gly) c.583A>G (p.Arg195Gly) c.*279A>G (n.*279A>G) | |
| 6 | g.36685789A>T | CA363834822 | CDKN1A | c.484A>T (p.Arg162Trp) c.586A>T (p.Arg196Trp) c.523A>T (p.Arg175Trp) c.583A>T (p.Arg195Trp) c.*279A>T (n.*279A>T) | |
| 6 | g.36685790G>A | CA363834823 | CDKN1A | c.485G>A (p.Arg162Lys) c.587G>A (p.Arg196Lys) c.524G>A (p.Arg175Lys) c.584G>A (p.Arg195Lys) c.*280G>A (n.*280G>A) | dbSNP gnomAD v4 |
| 6 | g.36685790G>C | CA363834824 | CDKN1A | c.485G>C (p.Arg162Thr) c.587G>C (p.Arg196Thr) c.524G>C (p.Arg175Thr) c.584G>C (p.Arg195Thr) c.*280G>C (n.*280G>C) | |
| 6 | g.36685790G>T | CA363834825 | CDKN1A | c.485G>T (p.Arg162Met) c.587G>T (p.Arg196Met) c.524G>T (p.Arg175Met) c.584G>T (p.Arg195Met) c.*280G>T (n.*280G>T) | |
| 6 | g.36685791G>A | CA449976547 | CDKN1A | c.486G>A (p.Arg162=) c.588G>A (p.Arg196=) c.525G>A (p.Arg175=) c.585G>A (p.Arg195=) c.*281G>A (n.*281G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.36685791G>C | CA363834826 | CDKN1A | c.486G>C (p.Arg162Ser) c.588G>C (p.Arg196Ser) c.525G>C (p.Arg175Ser) c.585G>C (p.Arg195Ser) c.*281G>C (n.*281G>C) | |
| 6 | g.36685791G= | CA1621457577 | CDKN1A | c.486G= (p.Arg162=) c.588G= (p.Arg196=) c.525G= (p.Arg175=) c.585G= (p.Arg195=) c.*281G= (n.*281G=) | |
| 6 | g.36685791G>T | CA363834827 | CDKN1A | c.486G>T (p.Arg162Ser) c.588G>T (p.Arg196Ser) c.525G>T (p.Arg175Ser) c.585G>T (p.Arg195Ser) c.*281G>T (n.*281G>T) | COSMIC COSMIC |
| 6 | g.36685792A= | CA1621457578 | CDKN1A | c.487A= (p.Lys163=) c.589A= (p.Lys197=) c.526A= (p.Lys176=) c.586A= (p.Lys196=) c.*282A= (n.*282A=) | |
| 6 | g.36685792A>C | CA363834828 | CDKN1A | c.487A>C (p.Lys163Gln) c.589A>C (p.Lys197Gln) c.526A>C (p.Lys176Gln) c.586A>C (p.Lys196Gln) c.*282A>C (n.*282A>C) | |
| 6 | g.36685792A>G | CA363834829 | CDKN1A | c.487A>G (p.Lys163Glu) c.589A>G (p.Lys197Glu) c.526A>G (p.Lys176Glu) c.586A>G (p.Lys196Glu) c.*282A>G (n.*282A>G) | |
| 6 | g.36685792A>T | CA137424843 | CDKN1A | c.487A>T (p.Lys163Ter) c.589A>T (p.Lys197Ter) c.526A>T (p.Lys176Ter) c.586A>T (p.Lys196Ter) c.*282A>T (n.*282A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.36685793A>C | CA363834830 | CDKN1A | c.488A>C (p.Lys163Thr) c.590A>C (p.Lys197Thr) c.527A>C (p.Lys176Thr) c.587A>C (p.Lys196Thr) c.*283A>C (n.*283A>C) | |
| 6 | g.36685793A>G | CA363834831 | CDKN1A | c.488A>G (p.Lys163Arg) c.590A>G (p.Lys197Arg) c.527A>G (p.Lys176Arg) c.587A>G (p.Lys196Arg) c.*283A>G (n.*283A>G) | |
| 6 | g.36685793A>T | CA363834832 | CDKN1A | c.488A>T (p.Lys163Met) c.590A>T (p.Lys197Met) c.527A>T (p.Lys176Met) c.587A>T (p.Lys196Met) c.*283A>T (n.*283A>T) | |
| 6 | g.36685794G>A | CA449976557 | CDKN1A | c.489G>A (p.Lys163=) c.591G>A (p.Lys197=) c.528G>A (p.Lys176=) c.588G>A (p.Lys196=) c.*284G>A (n.*284G>A) | |
| 6 | g.36685794G>C | CA363834834 | CDKN1A | c.489G>C (p.Lys163Asn) c.591G>C (p.Lys197Asn) c.528G>C (p.Lys176Asn) c.588G>C (p.Lys196Asn) c.*284G>C (n.*284G>C) | |
| 6 | g.36685794G>T | CA363834833 | CDKN1A | c.489G>T (p.Lys163Asn) c.591G>T (p.Lys197Asn) c.528G>T (p.Lys176Asn) c.588G>T (p.Lys196Asn) c.*284G>T (n.*284G>T) | |
| 6 | g.36685795C>A | CA363834835 | CDKN1A | c.490C>A (p.Pro164Thr) c.592C>A (p.Pro198Thr) c.529C>A (p.Pro177Thr) c.589C>A (p.Pro197Thr) c.*285C>A (n.*285C>A) | |
| 6 | g.36685795C>G | CA363834836 | CDKN1A | c.490C>G (p.Pro164Ala) c.592C>G (p.Pro198Ala) c.529C>G (p.Pro177Ala) c.589C>G (p.Pro197Ala) c.*285C>G (n.*285C>G) | |
| 6 | g.36685795C>T | CA363834837 | CDKN1A | c.490C>T (p.Pro164Ser) c.592C>T (p.Pro198Ser) c.529C>T (p.Pro177Ser) c.589C>T (p.Pro197Ser) c.*285C>T (n.*285C>T) | dbSNP |
| 6 | g.36685796C>A | CA363834838 | CDKN1A | c.491C>A (p.Pro164His) c.593C>A (p.Pro198His) c.530C>A (p.Pro177His) c.590C>A (p.Pro197His) c.*286C>A (n.*286C>A) | |
| 6 | g.36685796C= | CA1621457579 | CDKN1A | c.491C= (p.Pro164=) c.593C= (p.Pro198=) c.530C= (p.Pro177=) c.590C= (p.Pro197=) c.*286C= (n.*286C=) | |
| 6 | g.36685796C>G | CA363834839 | CDKN1A | c.491C>G (p.Pro164Arg) c.593C>G (p.Pro198Arg) c.530C>G (p.Pro177Arg) c.590C>G (p.Pro197Arg) c.*286C>G (n.*286C>G) | dbSNP |
| 6 | g.36685796C>T | CA363834840 | CDKN1A | c.491C>T (p.Pro164Leu) c.593C>T (p.Pro198Leu) c.530C>T (p.Pro177Leu) c.590C>T (p.Pro197Leu) c.*286C>T (n.*286C>T) | |
| 6 | g.36685797C>A | CA449976566 | CDKN1A | c.492C>A (p.Pro164=) c.594C>A (p.Pro198=) c.531C>A (p.Pro177=) c.591C>A (p.Pro197=) c.*287C>A (n.*287C>A) | |
| 6 | g.36685797C= | CA1621457580 | CDKN1A | c.492C= (p.Pro164=) c.594C= (p.Pro198=) c.531C= (p.Pro177=) c.591C= (p.Pro197=) c.*287C= (n.*287C=) | |
| 6 | g.36685797C>G | CA449976568 | CDKN1A | c.492C>G (p.Pro164=) c.594C>G (p.Pro198=) c.531C>G (p.Pro177=) c.591C>G (p.Pro197=) c.*287C>G (n.*287C>G) | |
| 6 | g.36685797C>T | CA449976570 | CDKN1A | c.492C>T (p.Pro164=) c.594C>T (p.Pro198=) c.531C>T (p.Pro177=) c.591C>T (p.Pro197=) c.*287C>T (n.*287C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.36685798T>A | CA363834841 | CDKN1A | c.493T>A (p.Ter165Lys) c.595T>A (p.Ter199Lys) c.532T>A (p.Ter178Lys) c.592T>A (p.Ter198Lys) c.*288T>A (n.*288T>A) | |
| 6 | g.36685798T>C | CA363834843 | CDKN1A | c.493T>C (p.Ter165Gln) c.595T>C (p.Ter199Gln) c.532T>C (p.Ter178Gln) c.592T>C (p.Ter198Gln) c.*288T>C (n.*288T>C) | |
| 6 | g.36685798T>G | CA363834842 | CDKN1A | c.493T>G (p.Ter165Glu) c.595T>G (p.Ter199Glu) c.532T>G (p.Ter178Glu) c.592T>G (p.Ter198Glu) c.*288T>G (n.*288T>G) | |
| 6 | g.36685799A>C | CA363834844 | CDKN1A | c.494A>C (p.Ter165Ser) c.596A>C (p.Ter199Ser) c.533A>C (p.Ter178Ser) c.593A>C (p.Ter198Ser) c.*289A>C (n.*289A>C) | |
| 6 | g.36685799A>G | CA449976577 | CDKN1A | c.494A>G (p.Ter165=) c.596A>G (p.Ter199=) c.533A>G (p.Ter178=) c.593A>G (p.Ter198=) c.*289A>G (n.*289A>G) | gnomAD v4 |
| 6 | g.36685799A>T | CA363834845 | CDKN1A | c.494A>T (p.Ter165Leu) c.596A>T (p.Ter199Leu) c.533A>T (p.Ter178Leu) c.593A>T (p.Ter198Leu) c.*289A>T (n.*289A>T) | |
| 6 | g.36685800A>C | CA363834846 | CDKN1A | c.495A>C (p.Ter165Tyr) c.597A>C (p.Ter199Tyr) c.534A>C (p.Ter178Tyr) c.594A>C (p.Ter198Tyr) c.*290A>C (n.*290A>C) | dbSNP |
| 6 | g.36685800A>G | CA449976579 | CDKN1A | c.495A>G (p.Ter165=) c.597A>G (p.Ter199=) c.534A>G (p.Ter178=) c.594A>G (p.Ter198=) c.*290A>G (n.*290A>G) | |
| 6 | g.36685800A>T | CA363834847 | CDKN1A | c.495A>T (p.Ter165Tyr) c.597A>T (p.Ter199Tyr) c.534A>T (p.Ter178Tyr) c.594A>T (p.Ter198Tyr) c.*290A>T (n.*290A>T) | |
| 6 | g.36685803C>A | CA1621457582 | CDKN1A | c.*3C>A (n.*3C>A) c.*293C>A (n.*293C>A) | dbSNP gnomAD v4 |
| 6 | g.36685803C= | CA1621457581 | CDKN1A | c.*3C= (n.*3C=) c.*293C= (n.*293C=) | |
| 6 | g.36685803C>G | CA2678467233 | CDKN1A | c.*3C>G (n.*3C>G) c.*293C>G (n.*293C>G) | gnomAD v4 |
| 6 | g.36685803C>T | CA3780443 | CDKN1A | c.*3C>T (n.*3C>T) c.*293C>T (n.*293C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.36685804G>A | CA3780444 | CDKN1A | c.*4G>A (n.*4G>A) c.*294G>A (n.*294G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.36685804G>C | CA566531963 | CDKN1A | c.*4G>C (n.*4G>C) c.*294G>C (n.*294G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.36685804G= | CA1621457583 | CDKN1A | c.*4G= (n.*4G=) c.*294G= (n.*294G=) | |
| 6 | g.36685804G>T | CA3780445 | CDKN1A | c.*4G>T (n.*4G>T) c.*294G>T (n.*294G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.36685805C= | CA1621457584 | CDKN1A | c.*5C= (n.*5C=) c.*295C= (n.*295C=) | |
| 6 | g.36685805C>T | CA566531964 | CDKN1A | c.*5C>T (n.*5C>T) c.*295C>T (n.*295C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.36685805_36685810delinsCCCACA | CA1621457585 | CDKN1A | c.*5_*10delinsCCCACA (n.*5_*10delinsCCCACA) c.*295_*300delinsCCCACA (n.*295_*300delinsCCCACA) | |
| 6 | g.36685806_36685810del | CA566531965 | CDKN1A | c.*6_*10del (n.*6_*10del) c.*296_*300del (n.*296_*300del) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.36685808A= | CA1621457586 | CDKN1A | c.*8A= (n.*8A=) c.*298A= (n.*298A=) | |
| 6 | g.36685808A>G | CA566531966 | CDKN1A | c.*8A>G (n.*8A>G) c.*298A>G (n.*298A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.36685810A= | CA1621457587 | CDKN1A | c.*10A= (n.*10A=) c.*300A= (n.*300A=) | |
| 6 | g.36685810A>G | CA824303414 | CDKN1A | c.*10A>G (n.*10A>G) c.*300A>G (n.*300A>G) | dbSNP gnomAD v4 |
| 6 | g.36685810_36685811insTT | CA566531967 | CDKN1A | c.*10_*11insTT (n.*10_*11insTT) c.*300_*301insTT (n.*300_*301insTT) | dbSNP gnomAD v2 |
| 6 | g.36685811G>A | CA3780446 | CDKN1A | c.*11G>A (n.*11G>A) c.*301G>A (n.*301G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.36685811G= | CA1621457588 | CDKN1A | c.*11G= (n.*11G=) c.*301G= (n.*301G=) | |
| 6 | g.36685814A= | CA1621457589 | CDKN1A | c.*14A= (n.*14A=) c.*304A= (n.*304A=) | |
| 6 | g.36685814A>T | CA2711445225 | CDKN1A | c.*14A>T (n.*14A>T) c.*304A>T (n.*304A>T) | dbSNP |
| 6 | g.36685815G>A | CA2678467238 | CDKN1A | c.*15G>A (n.*15G>A) c.*305G>A (n.*305G>A) | gnomAD v4 |
| 6 | g.36685815dup | CA566531968 | CDKN1A | c.*15dup (n.*15dup) c.*305dup (n.*305dup) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.36685815_36685816delinsGC | CA1621457590 | CDKN1A | c.*15_*16delinsGC (n.*15_*16delinsGC) c.*305_*306delinsGC (n.*305_*306delinsGC) | |
| 6 | g.36685816C>A | CA2711149111 | CDKN1A | c.*16C>A (n.*16C>A) c.*306C>A (n.*306C>A) | dbSNP |
| 6 | g.36685816C= | CA1621457592 | CDKN1A | c.*16C= (n.*16C=) c.*306C= (n.*306C=) | |
| 6 | g.36685816C>G | CA566531969 | CDKN1A | c.*16C>G (n.*16C>G) c.*306C>G (n.*306C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.36685817del | CA1621457591 | CDKN1A | c.*17del (n.*17del) c.*307del (n.*307del) | dbSNP |
| 6 | g.36685817C>T | CA2678467241 | CDKN1A | c.*17C>T (n.*17C>T) c.*307C>T (n.*307C>T) | gnomAD v4 |
| 6 | g.36685818T>C | CA2678467242 | CDKN1A | c.*18T>C (n.*18T>C) c.*308T>C (n.*308T>C) | gnomAD v4 |
| 6 | g.36685820C>A | CA2579753867 | CDKN1A | c.*20C>A (n.*20C>A) c.*310C>A (n.*310C>A) | |
| 6 | g.36685820C= | CA1621457593 | CDKN1A | c.*20C= (n.*20C=) c.*310C= (n.*310C=) | |
| 6 | g.36685820C>G | CA2579753866 | CDKN1A | c.*20C>G (n.*20C>G) c.*310C>G (n.*310C>G) | |
| 6 | g.36685820C>T | CA3780447 | CDKN1A | c.*20C>T (n.*20C>T) c.*310C>T (n.*310C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.36685820_36685821insT | CA650931656 | CDKN1A | c.*20_*21insT (n.*20_*21insT) c.*310_*311insT (n.*310_*311insT) | |
| 6 | g.36685821A= | CA1621457594 | CDKN1A | c.*21A= (n.*21A=) c.*311A= (n.*311A=) | |
| 6 | g.36685821A>C | CA137424890 | CDKN1A | c.*21A>C (n.*21A>C) c.*311A>C (n.*311A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.36685821A>G | CA3780448 | CDKN1A | c.*21A>G (n.*21A>G) c.*311A>G (n.*311A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.36685821A>T | CA566531970 | CDKN1A | c.*21A>T (n.*21A>T) c.*311A>T (n.*311A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.36685822G>C | CA3780449 | CDKN1A | c.*22G>C (n.*22G>C) c.*312G>C (n.*312G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.36685822G= | CA1621457595 | CDKN1A | c.*22G= (n.*22G=) c.*312G= (n.*312G=) | |
| 6 | g.36685823T>C | CA137424928 | CDKN1A | c.*23T>C (n.*23T>C) c.*313T>C (n.*313T>C) | dbSNP gnomAD v4 |
| 6 | g.36685823T= | CA1621457596 | CDKN1A | c.*23T= (n.*23T=) c.*313T= (n.*313T=) | |
| 6 | g.36685824C>A | CA2678467250 | CDKN1A | c.*24C>A (n.*24C>A) c.*314C>A (n.*314C>A) | gnomAD v4 |
| 6 | g.36685824C= | CA1621457597 | CDKN1A | c.*24C= (n.*24C=) c.*314C= (n.*314C=) | |
| 6 | g.36685824C>T | CA1621457598 | CDKN1A | c.*24C>T (n.*24C>T) c.*314C>T (n.*314C>T) | dbSNP |
| 6 | g.36685827G>A | CA566531971 | CDKN1A | c.*27G>A (n.*27G>A) c.*317G>A (n.*317G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.36685827G= | CA1621457599 | CDKN1A | c.*27G= (n.*27G=) c.*317G= (n.*317G=) | |
| 6 | g.36685827_36685828insTTTGCCGTTGGGTCAAGACTAATTATAATAACAACAACTACTGACGTTTATATGGGCCCGGCATTGT | CA2678467251 | CDKN1A | c.*27_*28insTTTGCCGTTGGGTCAAGACTAATTATAATAACAACAACTACTGACGTTTATATGGGCCCGGCATTGT (n.*27_*28insTTTGCCGTTGGGTCAAGACTAATTATAATAACAACAACTACTGACGTTTATATGGGCCCGGCATTGT) c.*317_*318insTTTGCCGTTGGGTCAAGACTAATTATAATAACAACAACTACTGACGTTTATATGGGCCCGGCATTGT (n.*317_*318insTTTGCCGTTGGGTCAAGACTAATTATAATAACAACAACTACTGACGTTTATATGGGCCCGGCATTGT) | gnomAD v4 |
| 6 | g.36685828G>A | CA3780450 | CDKN1A | c.*28G>A (n.*28G>A) c.*318G>A (n.*318G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.36685828G= | CA1621457600 | CDKN1A | c.*28G= (n.*28G=) c.*318G= (n.*318G=) | |
| 6 | g.36685831G= | CA1621457601 | CDKN1A | c.*31G= (n.*31G=) c.*321G= (n.*321G=) | |
| 6 | g.36685831G>T | CA3780451 | CDKN1A | c.*31G>T (n.*31G>T) c.*321G>T (n.*321G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.36685832C>A | CA2678467255 | CDKN1A | c.*32C>A (n.*32C>A) c.*322C>A (n.*322C>A) | gnomAD v4 |
| 6 | g.36685832C= | CA1621457602 | CDKN1A | c.*32C= (n.*32C=) c.*322C= (n.*322C=) | |
| 6 | g.36685832C>G | CA2578600498 | CDKN1A | c.*32C>G (n.*32C>G) c.*322C>G (n.*322C>G) | |
| 6 | g.36685832C>T | CA3780452 | CDKN1A | c.*32C>T (n.*32C>T) c.*322C>T (n.*322C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.36685833G>A | CA3780453 | CDKN1A | c.*33G>A (n.*33G>A) c.*323G>A (n.*323G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.36685833G>C | CA2678467257 | CDKN1A | c.*33G>C (n.*33G>C) c.*323G>C (n.*323G>C) | gnomAD v4 |
| 6 | g.36685833G= | CA1621457603 | CDKN1A | c.*33G= (n.*33G=) c.*323G= (n.*323G=) | |
| 6 | g.36685833G>T | CA1087905217 | CDKN1A | c.*33G>T (n.*33G>T) c.*323G>T (n.*323G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.36685834C= | CA1621457604 | CDKN1A | c.*34C= (n.*34C=) c.*324C= (n.*324C=) | |
| 6 | g.36685834C>G | CA1621457605 | CDKN1A | c.*34C>G (n.*34C>G) c.*324C>G (n.*324C>G) | dbSNP gnomAD v4 |
| 6 | g.36685834C>T | CA566531972 | CDKN1A | c.*34C>T (n.*34C>T) c.*324C>T (n.*324C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.36685835G>A | CA3780454 | CDKN1A | c.*35G>A (n.*35G>A) c.*325G>A (n.*325G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.36685835G>C | CA2678467260 | CDKN1A | c.*35G>C (n.*35G>C) c.*325G>C (n.*325G>C) | gnomAD v4 |
| 6 | g.36685835G= | CA1621457606 | CDKN1A | c.*35G= (n.*35G=) c.*325G= (n.*325G=) | |
| 6 | g.36685836A= | CA1621457607 | CDKN1A | c.*36A= (n.*36A=) c.*326A= (n.*326A=) | |
| 6 | g.36685836A>G | CA1087905225 | CDKN1A | c.*36A>G (n.*36A>G) c.*326A>G (n.*326A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.36685837G>T | CA2678467262 | CDKN1A | c.*37G>T (n.*37G>T) c.*327G>T (n.*327G>T) | gnomAD v4 |
| 6 | g.36685838G>C | CA3780455 | CDKN1A | c.*38G>C (n.*38G>C) c.*328G>C (n.*328G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.36685838G= | CA1621457608 | CDKN1A | c.*38G= (n.*38G=) c.*328G= (n.*328G=) | |
| 6 | g.36685839G>A | CA2678467265 | CDKN1A | c.*39G>A (n.*39G>A) c.*329G>A (n.*329G>A) | dbSNP gnomAD v4 |
| 6 | g.36685839G>T | CA2678467263 | CDKN1A | c.*39G>T (n.*39G>T) c.*329G>T (n.*329G>T) | gnomAD v4 |
| 6 | g.36685839_36685840delinsGC | CA1621457609 | CDKN1A | c.*39_*40delinsGC (n.*39_*40delinsGC) c.*329_*330delinsGC (n.*329_*330delinsGC) | |
| 6 | g.36685840C>A | CA2578600499 | CDKN1A | c.*40C>A (n.*40C>A) c.*330C>A (n.*330C>A) | gnomAD v4 |
| 6 | g.36685840C= | CA1621457610 | CDKN1A | c.*40C= (n.*40C=) c.*330C= (n.*330C=) | |
| 6 | g.36685840C>G | CA566531973 | CDKN1A | c.*40C>G (n.*40C>G) c.*330C>G (n.*330C>G) | dbSNP gnomAD v2 |
| 6 | g.36685841del | CA3780456 | CDKN1A | c.*41del (n.*41del) c.*331del (n.*331del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.36685841C>A | CA2578600500 | CDKN1A | c.*41C>A (n.*41C>A) c.*331C>A (n.*331C>A) | gnomAD v4 |
| 6 | g.36685842T>A | CA2711445244 | CDKN1A | c.*42T>A (n.*42T>A) c.*332T>A (n.*332T>A) | dbSNP |
| 6 | g.36685842T>C | CA2678467271 | CDKN1A | c.*42T>C (n.*42T>C) c.*332T>C (n.*332T>C) | dbSNP gnomAD v4 |
| 6 | g.36685843C>A | CA2678467273 | CDKN1A | c.*43C>A (n.*43C>A) c.*333C>A (n.*333C>A) | gnomAD v4 |
| 6 | g.36685843C= | CA1621457611 | CDKN1A | c.*43C= (n.*43C=) c.*333C= (n.*333C=) | |
| 6 | g.36685843C>T | CA3780457 | CDKN1A | c.*43C>T (n.*43C>T) c.*333C>T (n.*333C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |