Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.36685747T>CCA566531961CDKN1Ac.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
6g.36685747T=CA1621457559CDKN1Ac.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=)
6g.36685748C=CA1621457560CDKN1Ac.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=)
6g.36685748C>GCA913203373CDKN1Ac.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
6g.36685748C>TCA3780434CDKN1Ac.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
6g.36685749A>CCA363834733CDKN1Ac.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
6g.36685749A>GCA363834734CDKN1Ac.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
6g.36685749A>TCA363834735CDKN1Ac.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)
6g.36685750G>ACA363834736CDKN1Ac.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)
6g.36685750G>CCA363834737CDKN1Ac.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)
6g.36685750G>TCA363834738CDKN1Ac.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)
6g.36685751A>CCA363834739CDKN1Ac.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)
6g.36685751A>GCA363834741CDKN1Ac.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)
6g.36685751A>TCA363834740CDKN1Ac.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)
6g.36685752T>ACA363834742CDKN1Ac.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)
6g.36685752T>CCA3780435CDKN1Ac.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
6g.36685752T>GCA363834743CDKN1Ac.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)
6g.36685752T=CA1621457561CDKN1Ac.447T= (p.Asp149=)
c.549T= (p.Asp183=)
c.486T= (p.Asp162=)
c.546T= (p.Asp182=)
c.*242T= (n.*242T=)
6g.36685753T>ACA363834744CDKN1Ac.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)
6g.36685753T>CCA363834746CDKN1Ac.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)
6g.36685753T>GCA363834745CDKN1Ac.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)
6g.36685754T>ACA363834747CDKN1Ac.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)
6g.36685754T>CCA363834749CDKN1Ac.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
6g.36685754T>GCA363834748CDKN1Ac.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)
6g.36685755C>ACA363834750CDKN1Ac.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)
6g.36685755C>GCA363834751CDKN1Ac.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)
6g.36685755C>TCA449976437CDKN1Ac.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)
6g.36685756T>ACA363834752CDKN1Ac.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)
6g.36685756T>CCA363834753CDKN1Ac.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)
6g.36685756T>GCA363834754CDKN1Ac.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)
6g.36685757A=CA1621457562CDKN1Ac.452A= (p.Tyr151=)
c.554A= (p.Tyr185=)
c.491A= (p.Tyr164=)
c.551A= (p.Tyr184=)
c.*247A= (n.*247A=)
6g.36685757A>CCA363834755CDKN1Ac.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)
6g.36685757A>GCA137424730CDKN1Ac.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
6g.36685757A>TCA363834756CDKN1Ac.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)
6g.36685758C>ACA363834757CDKN1Ac.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)
6g.36685758C>GCA363834758CDKN1Ac.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)
6g.36685758C>TCA449976444CDKN1Ac.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)
6g.36685759C>ACA363834759CDKN1Ac.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)
6g.36685759C>GCA363834760CDKN1Ac.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)
6g.36685759C>TCA363834761CDKN1Ac.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
6g.36685760A>CCA363834764CDKN1Ac.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)
6g.36685760A>GCA363834762CDKN1Ac.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)
6g.36685760A>TCA363834763CDKN1Ac.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)
6g.36685761C>ACA363834765CDKN1Ac.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)
6g.36685761C>GCA363834766CDKN1Ac.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)
6g.36685761C>TCA449976451CDKN1Ac.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
6g.36685762T>ACA363834767CDKN1Ac.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)
6g.36685762T>CCA363834768CDKN1Ac.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)
6g.36685762T>GCA363834769CDKN1Ac.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)
6g.36685763C>ACA363834770CDKN1Ac.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

Number of alleles fetched