| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) |