Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.36684462C>ACA363834543CDKN1Ac.361C>A (p.Pro121Thr)
n.555C>A
n.580C>A
c.463C>A (p.Pro155Thr)
c.400C>A (p.Pro134Thr)
dbSNP
6g.36684462C>GCA363834544CDKN1Ac.361C>G (p.Pro121Ala)
n.555C>G
n.580C>G
c.463C>G (p.Pro155Ala)
c.400C>G (p.Pro134Ala)
dbSNP
6g.36684462C>TCA363834545CDKN1Ac.361C>T (p.Pro121Ser)
n.555C>T
n.580C>T
c.463C>T (p.Pro155Ser)
c.400C>T (p.Pro134Ser)
dbSNP gnomAD v4
6g.36684463C>ACA363834546CDKN1Ac.362C>A (p.Pro121His)
n.556C>A
n.581C>A
c.464C>A (p.Pro155His)
c.401C>A (p.Pro134His)
dbSNP
6g.36684463C=CA1621457043CDKN1Ac.362C= (p.Pro121=)
n.556C=
n.581C=
c.464C= (p.Pro155=)
c.401C= (p.Pro134=)
6g.36684463C>GCA363834547CDKN1Ac.362C>G (p.Pro121Arg)
n.556C>G
n.581C>G
c.464C>G (p.Pro155Arg)
c.401C>G (p.Pro134Arg)
dbSNP
6g.36684463C>TCA363834548CDKN1Ac.362C>T (p.Pro121Leu)
n.556C>T
n.581C>T
c.464C>T (p.Pro155Leu)
c.401C>T (p.Pro134Leu)
dbSNP
6g.36684464T>ACA450129502CDKN1Ac.363T>A (p.Pro121=)
n.557T>A
n.582T>A
c.465T>A (p.Pro155=)
c.402T>A (p.Pro134=)
dbSNP
6g.36684464T>CCA450129503CDKN1Ac.363T>C (p.Pro121=)
n.557T>C
n.582T>C
c.465T>C (p.Pro155=)
c.402T>C (p.Pro134=)
dbSNP
6g.36684464T>GCA450129504CDKN1Ac.363T>G (p.Pro121=)
n.557T>G
n.582T>G
c.465T>G (p.Pro155=)
c.402T>G (p.Pro134=)
6g.36684465C>ACA363834549CDKN1Ac.364C>A (p.Arg122Ser)
n.558C>A
n.583C>A
c.466C>A (p.Arg156Ser)
c.403C>A (p.Arg135Ser)
dbSNP
6g.36684465C=CA1621457044CDKN1Ac.364C= (p.Arg122=)
n.558C=
n.583C=
c.466C= (p.Arg156=)
c.403C= (p.Arg135=)
6g.36684465C>GCA363834550CDKN1Ac.364C>G (p.Arg122Gly)
n.558C>G
n.583C>G
c.466C>G (p.Arg156Gly)
c.403C>G (p.Arg135Gly)
dbSNP
6g.36684465C>TCA3780391CDKN1Ac.364C>T (p.Arg122Cys)
n.558C>T
n.583C>T
c.466C>T (p.Arg156Cys)
c.403C>T (p.Arg135Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.36684466G>ACA3780392CDKN1Ac.365G>A (p.Arg122His)
n.559G>A
n.584G>A
c.467G>A (p.Arg156His)
c.404G>A (p.Arg135His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.36684466G>CCA363834552CDKN1Ac.365G>C (p.Arg122Pro)
n.559G>C
n.584G>C
c.467G>C (p.Arg156Pro)
c.404G>C (p.Arg135Pro)
dbSNP
6g.36684466G=CA1621457045CDKN1Ac.365G= (p.Arg122=)
n.559G=
n.584G=
c.467G= (p.Arg156=)
c.404G= (p.Arg135=)
6g.36684466G>TCA363834551CDKN1Ac.365G>T (p.Arg122Leu)
n.559G>T
n.584G>T
c.467G>T (p.Arg156Leu)
c.404G>T (p.Arg135Leu)
dbSNP
6g.36684467C>ACA450129506CDKN1Ac.366C>A (p.Arg122=)
n.560C>A
n.585C>A
c.468C>A (p.Arg156=)
c.405C>A (p.Arg135=)
dbSNP
6g.36684467C>GCA450129507CDKN1Ac.366C>G (p.Arg122=)
n.560C>G
n.585C>G
c.468C>G (p.Arg156=)
c.405C>G (p.Arg135=)
6g.36684467C>TCA450129505CDKN1Ac.366C>T (p.Arg122=)
n.560C>T
n.585C>T
c.468C>T (p.Arg156=)
c.405C>T (p.Arg135=)
6g.36684468T>ACA137423586CDKN1Ac.367T>A (p.Ser123Thr)
n.561T>A
n.586T>A
c.469T>A (p.Ser157Thr)
c.406T>A (p.Ser136Thr)
dbSNP gnomAD v4
6g.36684468T>CCA363834553CDKN1Ac.367T>C (p.Ser123Pro)
n.561T>C
n.586T>C
c.469T>C (p.Ser157Pro)
c.406T>C (p.Ser136Pro)
dbSNP
6g.36684468T>GCA363834554CDKN1Ac.367T>G (p.Ser123Ala)
n.561T>G
n.586T>G
c.469T>G (p.Ser157Ala)
c.406T>G (p.Ser136Ala)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.36684468T=CA1621457046CDKN1Ac.367T= (p.Ser123=)
n.561T=
n.586T=
c.469T= (p.Ser157=)
c.406T= (p.Ser136=)
6g.36684469C>ACA363834555CDKN1Ac.368C>A (p.Ser123Ter)
n.562C>A
n.587C>A
c.470C>A (p.Ser157Ter)
c.407C>A (p.Ser136Ter)
dbSNP
6g.36684469C=CA1621457047CDKN1Ac.368C= (p.Ser123=)
n.562C=
n.587C=
c.470C= (p.Ser157=)
c.407C= (p.Ser136=)
6g.36684469C>GCA363834556CDKN1Ac.368C>G (p.Ser123Ter)
n.562C>G
n.587C>G
c.470C>G (p.Ser157Ter)
c.407C>G (p.Ser136Ter)
dbSNP
6g.36684469C>TCA363834557CDKN1Ac.368C>T (p.Ser123Leu)
n.562C>T
n.587C>T
c.470C>T (p.Ser157Leu)
c.407C>T (p.Ser136Leu)
dbSNP
6g.36684470A=CA1621457048CDKN1Ac.369A= (p.Ser123=)
n.563A=
n.588A=
c.471A= (p.Ser157=)
c.408A= (p.Ser136=)
6g.36684470A>CCA3780393CDKN1Ac.369A>C (p.Ser123=)
n.563A>C
n.588A>C
c.471A>C (p.Ser157=)
c.408A>C (p.Ser136=)
dbSNP ExAC gnomAD v2
6g.36684470A>GCA450129508CDKN1Ac.369A>G (p.Ser123=)
n.563A>G
n.588A>G
c.471A>G (p.Ser157=)
c.408A>G (p.Ser136=)
6g.36684470A>TCA450129509CDKN1Ac.369A>T (p.Ser123=)
n.563A>T
n.588A>T
c.471A>T (p.Ser157=)
c.408A>T (p.Ser136=)
6g.36684470_36684471delCA2678467009CDKN1Ac.369_370del (p.Glu125AlafsTer3)
n.563_564del
n.588_589del
c.471_472del (p.Glu159AlafsTer3)
c.408_409del (p.Glu138AlafsTer3)
gnomAD v4
6g.36684471G>ACA363834558CDKN1Ac.370G>A (p.Gly124Arg)
n.564G>A
n.589G>A
c.472G>A (p.Gly158Arg)
c.409G>A (p.Gly137Arg)
dbSNP gnomAD v4
6g.36684471G>CCA363834559CDKN1Ac.370G>C (p.Gly124Arg)
n.564G>C
n.589G>C
c.472G>C (p.Gly158Arg)
c.409G>C (p.Gly137Arg)
6g.36684471G>TCA363834560CDKN1Ac.370G>T (p.Gly124Trp)
n.564G>T
n.589G>T
c.472G>T (p.Gly158Trp)
c.409G>T (p.Gly137Trp)
6g.36684472G>ACA3780394CDKN1Ac.371G>A (p.Gly124Glu)
n.565G>A
n.590G>A
c.473G>A (p.Gly158Glu)
c.410G>A (p.Gly137Glu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.36684472G>CCA363834561CDKN1Ac.371G>C (p.Gly124Ala)
n.565G>C
n.590G>C
c.473G>C (p.Gly158Ala)
c.410G>C (p.Gly137Ala)
6g.36684472G=CA1621457049CDKN1Ac.371G= (p.Gly124=)
n.565G=
n.590G=
c.473G= (p.Gly158=)
c.410G= (p.Gly137=)
6g.36684472G>TCA363834562CDKN1Ac.371G>T (p.Gly124Val)
n.565G>T
n.590G>T
c.473G>T (p.Gly158Val)
c.410G>T (p.Gly137Val)
dbSNP
6g.36684473G>ACA450129510CDKN1Ac.372G>A (p.Gly124=)
n.566G>A
n.591G>A
c.474G>A (p.Gly158=)
c.411G>A (p.Gly137=)
dbSNP
6g.36684473G>CCA450129511CDKN1Ac.372G>C (p.Gly124=)
n.566G>C
n.591G>C
c.474G>C (p.Gly158=)
c.411G>C (p.Gly137=)
6g.36684473G>TCA450129512CDKN1Ac.372G>T (p.Gly124=)
n.566G>T
n.591G>T
c.474G>T (p.Gly158=)
c.411G>T (p.Gly137=)
6g.36684474G>ACA363834563CDKN1Ac.373G>A (p.Glu125Lys)
n.567G>A
n.592G>A
c.475G>A (p.Glu159Lys)
c.412G>A (p.Glu138Lys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.36684474G>CCA363834565CDKN1Ac.373G>C (p.Glu125Gln)
n.567G>C
n.592G>C
c.475G>C (p.Glu159Gln)
c.412G>C (p.Glu138Gln)
6g.36684474G=CA1621457050CDKN1Ac.373G= (p.Glu125=)
n.567G=
n.592G=
c.475G= (p.Glu159=)
c.412G= (p.Glu138=)
6g.36684474G>TCA363834564CDKN1Ac.373G>T (p.Glu125Ter)
n.567G>T
n.592G>T
c.475G>T (p.Glu159Ter)
c.412G>T (p.Glu138Ter)
6g.36684475A>CCA363834566CDKN1Ac.374A>C (p.Glu125Ala)
n.568A>C
n.593A>C
c.476A>C (p.Glu159Ala)
c.413A>C (p.Glu138Ala)
6g.36684475A>GCA363834568CDKN1Ac.374A>G (p.Glu125Gly)
n.568A>G
n.593A>G
c.476A>G (p.Glu159Gly)
c.413A>G (p.Glu138Gly)
dbSNP gnomAD v4
6g.36684475A>TCA363834567CDKN1Ac.374A>T (p.Glu125Val)
n.568A>T
n.593A>T
c.476A>T (p.Glu159Val)
c.413A>T (p.Glu138Val)
6g.36684476G>ACA450129513CDKN1Ac.375G>A (p.Glu125=)
n.569G>A
n.594G>A
c.477G>A (p.Glu159=)
c.414G>A (p.Glu138=)
dbSNP
6g.36684476G>CCA363834569CDKN1Ac.375G>C (p.Glu125Asp)
n.569G>C
n.594G>C
c.477G>C (p.Glu159Asp)
c.414G>C (p.Glu138Asp)
6g.36684476G>TCA363834570CDKN1Ac.375G>T (p.Glu125Asp)
n.569G>T
n.594G>T
c.477G>T (p.Glu159Asp)
c.414G>T (p.Glu138Asp)
6g.36684477C>ACA363834571CDKN1Ac.376C>A (p.Gln126Lys)
n.570C>A
n.595C>A
c.478C>A (p.Gln160Lys)
c.415C>A (p.Gln139Lys)
dbSNP
6g.36684477C=CA1621457051CDKN1Ac.376C= (p.Gln126=)
n.570C=
n.595C=
c.478C= (p.Gln160=)
c.415C= (p.Gln139=)
6g.36684477C>GCA363834572CDKN1Ac.376C>G (p.Gln126Glu)
n.570C>G
n.595C>G
c.478C>G (p.Gln160Glu)
c.415C>G (p.Gln139Glu)
dbSNP
6g.36684477C>TCA363834573CDKN1Ac.376C>T (p.Gln126Ter)
n.570C>T
n.595C>T
c.478C>T (p.Gln160Ter)
c.415C>T (p.Gln139Ter)
dbSNP gnomAD v2 gnomAD v4
6g.36684478A=CA1621457052CDKN1Ac.377A= (p.Gln126=)
n.571A=
n.596A=
c.479A= (p.Gln160=)
c.416A= (p.Gln139=)
6g.36684478A>CCA363834574CDKN1Ac.377A>C (p.Gln126Pro)
n.571A>C
n.596A>C
c.479A>C (p.Gln160Pro)
c.416A>C (p.Gln139Pro)
6g.36684478A>GCA363834575CDKN1Ac.377A>G (p.Gln126Arg)
n.571A>G
n.596A>G
c.479A>G (p.Gln160Arg)
c.416A>G (p.Gln139Arg)
dbSNP
6g.36684478A>TCA363834576CDKN1Ac.377A>T (p.Gln126Leu)
n.571A>T
n.596A>T
c.479A>T (p.Gln160Leu)
c.416A>T (p.Gln139Leu)
6g.36684478_36684479insCAACA3780395CDKN1Ac.377_378insCAA (p.Gln126delinsHisLys)
n.571_572insCAA
n.596_597insCAA
c.479_480insCAA (p.Gln160delinsHisLys)
c.416_417insCAA (p.Gln139delinsHisLys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.36684478_36684479insCAAGGGCA1621457053CDKN1Ac.377_378insCAAGGG (p.Gln126delinsHisLysGly)
n.571_572insCAAGGG
n.596_597insCAAGGG
c.479_480insCAAGGG (p.Gln160delinsHisLysGly)
c.416_417insCAAGGG (p.Gln139delinsHisLysGly)
dbSNP
6g.36684479G>ACA450129514CDKN1Ac.378G>A (p.Gln126=)
n.572G>A
n.597G>A
c.480G>A (p.Gln160=)
c.417G>A (p.Gln139=)
dbSNP
6g.36684479G>CCA363834577CDKN1Ac.378G>C (p.Gln126His)
n.572G>C
n.597G>C
c.480G>C (p.Gln160His)
c.417G>C (p.Gln139His)
6g.36684479G=CA1621457054CDKN1Ac.378G= (p.Gln126=)
n.572G=
n.597G=
c.480G= (p.Gln160=)
c.417G= (p.Gln139=)
6g.36684479G>TCA363834578CDKN1Ac.378G>T (p.Gln126His)
n.572G>T
n.597G>T
c.480G>T (p.Gln160His)
c.417G>T (p.Gln139His)
gnomAD v4
6g.36684480G>ACA363834581CDKN1Ac.379G>A (p.Ala127Thr)
n.573G>A
n.598G>A
c.481G>A (p.Ala161Thr)
c.418G>A (p.Ala140Thr)
dbSNP gnomAD v2
6g.36684480G>CCA363834579CDKN1Ac.379G>C (p.Ala127Pro)
n.573G>C
n.598G>C
c.481G>C (p.Ala161Pro)
c.418G>C (p.Ala140Pro)
dbSNP
6g.36684480G=CA1621457055CDKN1Ac.379G= (p.Ala127=)
n.573G=
n.598G=
c.481G= (p.Ala161=)
c.418G= (p.Ala140=)
6g.36684480G>TCA363834580CDKN1Ac.379G>T (p.Ala127Ser)
n.573G>T
n.598G>T
c.481G>T (p.Ala161Ser)
c.418G>T (p.Ala140Ser)
gnomAD v4
6g.36684480_36684481insGAGCA3780396CDKN1Ac.379_380insGAG (p.Gln126_Ala127insGly)
n.573_574insGAG
n.598_599insGAG
c.481_482insGAG (p.Gln160_Ala161insGly)
c.418_419insGAG (p.Gln139_Ala140insGly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.36684481C>ACA363834582CDKN1Ac.380C>A (p.Ala127Asp)
n.574C>A
n.599C>A
c.482C>A (p.Ala161Asp)
c.419C>A (p.Ala140Asp)
6g.36684481C>GCA363834583CDKN1Ac.380C>G (p.Ala127Gly)
n.574C>G
n.599C>G
c.482C>G (p.Ala161Gly)
c.419C>G (p.Ala140Gly)
6g.36684481C>TCA363834584CDKN1Ac.380C>T (p.Ala127Val)
n.574C>T
n.599C>T
c.482C>T (p.Ala161Val)
c.419C>T (p.Ala140Val)
6g.36684482T>ACA450129517CDKN1Ac.381T>A (p.Ala127=)
n.575T>A
n.600T>A
c.483T>A (p.Ala161=)
c.420T>A (p.Ala140=)
6g.36684482T>CCA450129516CDKN1Ac.381T>C (p.Ala127=)
n.575T>C
n.600T>C
c.483T>C (p.Ala161=)
c.420T>C (p.Ala140=)
dbSNP COSMIC COSMIC
6g.36684482T>GCA450129515CDKN1Ac.381T>G (p.Ala127=)
n.575T>G
n.600T>G
c.483T>G (p.Ala161=)
c.420T>G (p.Ala140=)
6g.36684482T=CA1621457056CDKN1Ac.381T= (p.Ala127=)
n.575T=
n.600T=
c.483T= (p.Ala161=)
c.420T= (p.Ala140=)
6g.36684483G>ACA363834585CDKN1Ac.382G>A (p.Glu128Lys)
n.576G>A
n.601G>A
c.484G>A (p.Glu162Lys)
c.421G>A (p.Glu141Lys)
dbSNP gnomAD v4
6g.36684483G>CCA363834586CDKN1Ac.382G>C (p.Glu128Gln)
n.576G>C
n.601G>C
c.484G>C (p.Glu162Gln)
c.421G>C (p.Glu141Gln)
6g.36684483G>TCA363834587CDKN1Ac.382G>T (p.Glu128Ter)
n.576G>T
n.601G>T
c.484G>T (p.Glu162Ter)
c.421G>T (p.Glu141Ter)
6g.36684484A>CCA363834588CDKN1Ac.383A>C (p.Glu128Ala)
n.577A>C
n.602A>C
c.485A>C (p.Glu162Ala)
c.422A>C (p.Glu141Ala)
6g.36684484A>GCA363834589CDKN1Ac.383A>G (p.Glu128Gly)
n.577A>G
n.602A>G
c.485A>G (p.Glu162Gly)
c.422A>G (p.Glu141Gly)
6g.36684484A>TCA363834590CDKN1Ac.383A>T (p.Glu128Val)
n.577A>T
n.602A>T
c.485A>T (p.Glu162Val)
c.422A>T (p.Glu141Val)
6g.36684485A>CCA363834591CDKN1Ac.384A>C (p.Glu128Asp)
n.578A>C
n.603A>C
c.486A>C (p.Glu162Asp)
c.423A>C (p.Glu141Asp)
6g.36684485A>GCA450129518CDKN1Ac.384A>G (p.Glu128=)
n.578A>G
n.603A>G
c.486A>G (p.Glu162=)
c.423A>G (p.Glu141=)
6g.36684485A>TCA363834592CDKN1Ac.384A>T (p.Glu128Asp)
n.578A>T
n.603A>T
c.486A>T (p.Glu162Asp)
c.423A>T (p.Glu141Asp)
6g.36684486G>ACA363834596CDKN1Ac.385G>A (p.Gly129Arg)
n.579G>A
n.604G>A
c.487G>A (p.Gly163Arg)
c.424G>A (p.Gly142Arg)
6g.36684486G>CCA363834595CDKN1Ac.385G>C (p.Gly129Arg)
n.579G>C
n.604G>C
c.487G>C (p.Gly163Arg)
c.424G>C (p.Gly142Arg)
6g.36684486G>TCA363834593CDKN1Ac.385G>T (p.Gly129Trp)
n.579G>T
n.604G>T
c.487G>T (p.Gly163Trp)
c.424G>T (p.Gly142Trp)
6g.36684487G>ACA363834599CDKN1Ac.386G>A (p.Gly129Glu)
n.580G>A
n.605G>A
c.488G>A (p.Gly163Glu)
c.425G>A (p.Gly142Glu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.36684487G>CCA363834597CDKN1Ac.386G>C (p.Gly129Ala)
n.580G>C
n.605G>C
c.488G>C (p.Gly163Ala)
c.425G>C (p.Gly142Ala)
6g.36684487G=CA1621457057CDKN1Ac.386G= (p.Gly129=)
n.580G=
n.605G=
c.488G= (p.Gly163=)
c.425G= (p.Gly142=)
6g.36684487G>TCA363834598CDKN1Ac.386G>T (p.Gly129Val)
n.580G>T
n.605G>T
c.488G>T (p.Gly163Val)
c.425G>T (p.Gly142Val)
6g.36684488G>ACA450129519CDKN1Ac.387G>A (p.Gly129=)
n.581G>A
n.606G>A
c.489G>A (p.Gly163=)
c.426G>A (p.Gly142=)
dbSNP gnomAD v4
6g.36684488G>CCA450129520CDKN1Ac.387G>C (p.Gly129=)
n.581G>C
n.606G>C
c.489G>C (p.Gly163=)
c.426G>C (p.Gly142=)
6g.36684488G=CA1621457058CDKN1Ac.387G= (p.Gly129=)
n.581G=
n.606G=
c.489G= (p.Gly163=)
c.426G= (p.Gly142=)
6g.36684488G>TCA450129521CDKN1Ac.387G>T (p.Gly129=)
n.581G>T
n.606G>T
c.489G>T (p.Gly163=)
c.426G>T (p.Gly142=)
6g.36684489T>ACA363834600CDKN1Ac.388T>A (p.Ser130Thr)
n.582T>A
n.607T>A
c.490T>A (p.Ser164Thr)
c.427T>A (p.Ser143Thr)
6g.36684489T>CCA363834601CDKN1Ac.388T>C (p.Ser130Pro)
n.582T>C
n.607T>C
c.490T>C (p.Ser164Pro)
c.427T>C (p.Ser143Pro)
6g.36684489T>GCA363834602CDKN1Ac.388T>G (p.Ser130Ala)
n.582T>G
n.607T>G
c.490T>G (p.Ser164Ala)
c.427T>G (p.Ser143Ala)
dbSNP
6g.36684489T=CA1621457059CDKN1Ac.388T= (p.Ser130=)
n.582T=
n.607T=
c.490T= (p.Ser164=)
c.427T= (p.Ser143=)
6g.36684490C>ACA363834605CDKN1Ac.389C>A (p.Ser130Tyr)
n.583C>A
n.608C>A
c.491C>A (p.Ser164Tyr)
c.428C>A (p.Ser143Tyr)
6g.36684490C=CA1621457060CDKN1Ac.389C= (p.Ser130=)
n.583C=
n.608C=
c.491C= (p.Ser164=)
c.428C= (p.Ser143=)
6g.36684490C>GCA363834604CDKN1Ac.389C>G (p.Ser130Cys)
n.583C>G
n.608C>G
c.491C>G (p.Ser164Cys)
c.428C>G (p.Ser143Cys)
dbSNP gnomAD v4
6g.36684490C>TCA363834603CDKN1Ac.389C>T (p.Ser130Phe)
n.583C>T
n.608C>T
c.491C>T (p.Ser164Phe)
c.428C>T (p.Ser143Phe)
dbSNP gnomAD v3 gnomAD v4
6g.36684491C>ACA450129522CDKN1Ac.390C>A (p.Ser130=)
n.584C>A
n.609C>A
c.492C>A (p.Ser164=)
c.429C>A (p.Ser143=)
6g.36684491C>GCA450129523CDKN1Ac.390C>G (p.Ser130=)
n.584C>G
n.609C>G
c.492C>G (p.Ser164=)
c.429C>G (p.Ser143=)
6g.36684491C>TCA450129524CDKN1Ac.390C>T (p.Ser130=)
n.584C>T
n.609C>T
c.492C>T (p.Ser164=)
c.429C>T (p.Ser143=)
6g.36684492C>ACA363834606CDKN1Ac.391C>A (p.Pro131Thr)
n.585C>A
n.610C>A
c.493C>A (p.Pro165Thr)
c.430C>A (p.Pro144Thr)
6g.36684492C>GCA363834607CDKN1Ac.391C>G (p.Pro131Ala)
n.585C>G
n.610C>G
c.493C>G (p.Pro165Ala)
c.430C>G (p.Pro144Ala)
6g.36684492C>TCA363834608CDKN1Ac.391C>T (p.Pro131Ser)
n.585C>T
n.610C>T
c.493C>T (p.Pro165Ser)
c.430C>T (p.Pro144Ser)
6g.36684493C>ACA363834609CDKN1Ac.392C>A (p.Pro131Gln)
n.586C>A
n.611C>A
c.494C>A (p.Pro165Gln)
c.431C>A (p.Pro144Gln)
6g.36684493C=CA1621457061CDKN1Ac.392C= (p.Pro131=)
n.586C=
n.611C=
c.494C= (p.Pro165=)
c.431C= (p.Pro144=)
6g.36684493C>GCA363834610CDKN1Ac.392C>G (p.Pro131Arg)
n.586C>G
n.611C>G
c.494C>G (p.Pro165Arg)
c.431C>G (p.Pro144Arg)
6g.36684493C>TCA3780397CDKN1Ac.392C>T (p.Pro131Leu)
n.586C>T
n.611C>T
c.494C>T (p.Pro165Leu)
c.431C>T (p.Pro144Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.36684494A>CCA450129150CDKN1Ac.393A>C (p.Pro131=)
n.587A>C
n.612A>C
c.495A>C (p.Pro165=)
c.432A>C (p.Pro144=)
6g.36684494A>GCA450129151CDKN1Ac.393A>G (p.Pro131=)
n.587A>G
n.612A>G
c.495A>G (p.Pro165=)
c.432A>G (p.Pro144=)
6g.36684494A>TCA450129152CDKN1Ac.393A>T (p.Pro131=)
n.587A>T
n.612A>T
c.495A>T (p.Pro165=)
c.432A>T (p.Pro144=)
6g.36684495G>ACA363834611CDKN1Ac.394G>A (p.Gly132Ser)
n.588G>A
n.613G>A
c.496G>A (p.Gly166Ser)
c.433G>A (p.Gly145Ser)
6g.36684495G>CCA363834613CDKN1Ac.394G>C (p.Gly132Arg)
n.588G>C
n.613G>C
c.496G>C (p.Gly166Arg)
c.433G>C (p.Gly145Arg)
gnomAD v4
6g.36684495G>TCA363834612CDKN1Ac.394G>T (p.Gly132Cys)
n.588G>T
n.613G>T
c.496G>T (p.Gly166Cys)
c.433G>T (p.Gly145Cys)
COSMIC
6g.36684497_36684505delCA2678467014CDKN1Ac.396_404del (p.Gly133_Gly135del)
n.590_598del
c.498_506del (p.Gly167_Gly169del)
c.435_443del (p.Gly146_Gly148del)
gnomAD v4
6g.36684496G>ACA363834614CDKN1Ac.395G>A (p.Gly132Asp)
n.589G>A
n.614G>A
c.497G>A (p.Gly166Asp)
c.434G>A (p.Gly145Asp)
dbSNP gnomAD v3 gnomAD v4
6g.36684496G>CCA3780398CDKN1Ac.395G>C (p.Gly132Ala)
n.589G>C
n.614G>C
c.497G>C (p.Gly166Ala)
c.434G>C (p.Gly145Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.36684496G=CA1621457062CDKN1Ac.395G= (p.Gly132=)
n.589G=
n.614G=
c.497G= (p.Gly166=)
c.434G= (p.Gly145=)
6g.36684496G>TCA363834615CDKN1Ac.395G>T (p.Gly132Val)
n.589G>T
n.614G>T
c.497G>T (p.Gly166Val)
c.434G>T (p.Gly145Val)
6g.36684497T>ACA450129153CDKN1Ac.396T>A (p.Gly132=)
n.590T>A
n.615T>A
c.498T>A (p.Gly166=)
c.435T>A (p.Gly145=)
dbSNP
6g.36684497T>CCA450129155CDKN1Ac.396T>C (p.Gly132=)
n.590T>C
n.615T>C
c.498T>C (p.Gly166=)
c.435T>C (p.Gly145=)
6g.36684497T>GCA450129154CDKN1Ac.396T>G (p.Gly132=)
n.590T>G
n.615T>G
c.498T>G (p.Gly166=)
c.435T>G (p.Gly145=)
6g.36684498G>ACA363834616CDKN1Ac.397G>A (p.Gly133Arg)
n.591G>A
n.616G>A
c.499G>A (p.Gly167Arg)
c.436G>A (p.Gly146Arg)
dbSNP gnomAD v4
6g.36684498G>CCA363834617CDKN1Ac.397G>C (p.Gly133Arg)
n.591G>C
n.616G>C
c.499G>C (p.Gly167Arg)
c.436G>C (p.Gly146Arg)
6g.36684498G>TCA363834618CDKN1Ac.397G>T (p.Gly133Ter)
n.591G>T
n.616G>T
c.499G>T (p.Gly167Ter)
c.436G>T (p.Gly146Ter)
6g.36684499G>ACA363834619CDKN1Ac.398G>A (p.Gly133Glu)
n.592G>A
c.500G>A (p.Gly167Glu)
c.437G>A (p.Gly146Glu)
gnomAD v4
6g.36684499G>CCA363834620CDKN1Ac.398G>C (p.Gly133Ala)
n.592G>C
c.500G>C (p.Gly167Ala)
c.437G>C (p.Gly146Ala)
6g.36684499G=CA1621457063CDKN1Ac.398G= (p.Gly133=)
n.592G=
c.500G= (p.Gly167=)
c.437G= (p.Gly146=)
6g.36684499G>TCA3780399CDKN1Ac.398G>T (p.Gly133Val)
n.592G>T
c.500G>T (p.Gly167Val)
c.437G>T (p.Gly146Val)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.36684500A>CCA450129156CDKN1Ac.399A>C (p.Gly133=)
n.593A>C
c.501A>C (p.Gly167=)
c.438A>C (p.Gly146=)
6g.36684500A>GCA450129158CDKN1Ac.399A>G (p.Gly133=)
n.593A>G
c.501A>G (p.Gly167=)
c.438A>G (p.Gly146=)
dbSNP
6g.36684500A>TCA450129157CDKN1Ac.399A>T (p.Gly133=)
n.593A>T
c.501A>T (p.Gly167=)
c.438A>T (p.Gly146=)
dbSNP
6g.36684501C>ACA363834621CDKN1Ac.400C>A (p.Pro134Thr)
n.594C>A
c.502C>A (p.Pro168Thr)
c.439C>A (p.Pro147Thr)
6g.36684501C=CA1621457064CDKN1Ac.400C= (p.Pro134=)
n.594C=
c.502C= (p.Pro168=)
c.439C= (p.Pro147=)
6g.36684501C>GCA363834622CDKN1Ac.400C>G (p.Pro134Ala)
n.594C>G
c.502C>G (p.Pro168Ala)
c.439C>G (p.Pro147Ala)
6g.36684501C>TCA363834623CDKN1Ac.400C>T (p.Pro134Ser)
n.594C>T
c.502C>T (p.Pro168Ser)
c.439C>T (p.Pro147Ser)
dbSNP gnomAD v2
6g.36684502C>ACA363834625CDKN1Ac.401C>A (p.Pro134His)
n.595C>A
c.503C>A (p.Pro168His)
c.440C>A (p.Pro147His)
6g.36684502C=CA1621457065CDKN1Ac.401C= (p.Pro134=)
n.595C=
c.503C= (p.Pro168=)
c.440C= (p.Pro147=)
6g.36684502C>GCA363834624CDKN1Ac.401C>G (p.Pro134Arg)
n.595C>G
c.503C>G (p.Pro168Arg)
c.440C>G (p.Pro147Arg)
6g.36684502C>TCA3780400CDKN1Ac.401C>T (p.Pro134Leu)
n.595C>T
c.503C>T (p.Pro168Leu)
c.440C>T (p.Pro147Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.36684503T>ACA450129159CDKN1Ac.402T>A (p.Pro134=)
n.596T>A
c.504T>A (p.Pro168=)
c.441T>A (p.Pro147=)
6g.36684503T>CCA450129160CDKN1Ac.402T>C (p.Pro134=)
n.596T>C
c.504T>C (p.Pro168=)
c.441T>C (p.Pro147=)
6g.36684503T>GCA450129161CDKN1Ac.402T>G (p.Pro134=)
n.596T>G
c.504T>G (p.Pro168=)
c.441T>G (p.Pro147=)
6g.36684504G>ACA363834626CDKN1Ac.403G>A (p.Gly135Arg)
n.597G>A
c.505G>A (p.Gly169Arg)
c.442G>A (p.Gly148Arg)
6g.36684504G>CCA363834627CDKN1Ac.403G>C (p.Gly135Arg)
n.597G>C
c.505G>C (p.Gly169Arg)
c.442G>C (p.Gly148Arg)
6g.36684504G>TCA363834628CDKN1Ac.403G>T (p.Gly135Ter)
n.597G>T
c.505G>T (p.Gly169Ter)
c.442G>T (p.Gly148Ter)
6g.36684505G>ACA363834629CDKN1Ac.404G>A (p.Gly135Glu)
n.598G>A
c.506G>A (p.Gly169Glu)
c.443G>A (p.Gly148Glu)
gnomAD v4
6g.36684505G>CCA363834630CDKN1Ac.404G>C (p.Gly135Ala)
n.598G>C
c.506G>C (p.Gly169Ala)
c.443G>C (p.Gly148Ala)
6g.36684505G>TCA363834631CDKN1Ac.404G>T (p.Gly135Val)
n.598G>T
c.506G>T (p.Gly169Val)
c.443G>T (p.Gly148Val)
6g.36684506A>CCA450129162CDKN1Ac.405A>C (p.Gly135=)
n.599A>C
c.507A>C (p.Gly169=)
c.444A>C (p.Gly148=)
6g.36684506A>GCA450129163CDKN1Ac.405A>G (p.Gly135=)
n.599A>G
c.507A>G (p.Gly169=)
c.444A>G (p.Gly148=)
6g.36684506A>TCA450129164CDKN1Ac.405A>T (p.Gly135=)
n.599A>T
c.507A>T (p.Gly169=)
c.444A>T (p.Gly148=)
6g.36684507G>ACA363834632CDKN1Ac.406G>A (p.Asp136Asn)
n.600G>A
c.508G>A (p.Asp170Asn)
c.445G>A (p.Asp149Asn)
gnomAD v4
6g.36684507G>CCA363834633CDKN1Ac.406G>C (p.Asp136His)
n.600G>C
c.508G>C (p.Asp170His)
c.445G>C (p.Asp149His)
COSMIC
6g.36684507G>TCA363834634CDKN1Ac.406G>T (p.Asp136Tyr)
n.600G>T
c.508G>T (p.Asp170Tyr)
c.445G>T (p.Asp149Tyr)
gnomAD v4
6g.36684508A=CA1621457066CDKN1Ac.407A= (p.Asp136=)
n.601A=
c.509A= (p.Asp170=)
c.446A= (p.Asp149=)
6g.36684508A>CCA363834635CDKN1Ac.407A>C (p.Asp136Ala)
n.601A>C
c.509A>C (p.Asp170Ala)
c.446A>C (p.Asp149Ala)
6g.36684508A>GCA363834636CDKN1Ac.407A>G (p.Asp136Gly)
n.601A>G
c.509A>G (p.Asp170Gly)
c.446A>G (p.Asp149Gly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.36684508A>TCA363834637CDKN1Ac.407A>T (p.Asp136Val)
n.601A>T
c.509A>T (p.Asp170Val)
c.446A>T (p.Asp149Val)
6g.36684509C>ACA363834638CDKN1Ac.408C>A (p.Asp136Glu)
n.602C>A
c.510C>A (p.Asp170Glu)
c.447C>A (p.Asp149Glu)
6g.36684509C>GCA363834639CDKN1Ac.408C>G (p.Asp136Glu)
n.602C>G
c.510C>G (p.Asp170Glu)
c.447C>G (p.Asp149Glu)
6g.36684509C>TCA450129165CDKN1Ac.408C>T (p.Asp136=)
n.602C>T
c.510C>T (p.Asp170=)
c.447C>T (p.Asp149=)
6g.36684509_36684510delinsTACA645545327CDKN1Ac.408_409delinsTA (p.Ser137Thr)
n.602_603delinsTA
c.510_511delinsTA (p.Ser171Thr)
c.447_448delinsTA (p.Ser150Thr)
COSMIC COSMIC
6g.36684512_36684513delCA2538009745CDKN1Ac.411_412del (p.Gln138GlyfsTer?)
c.513_514del (p.Gln172GlyfsTer?)
c.450_451del (p.Gln151GlyfsTer?)
c.411_412del (p.Gln138GlyfsTer21)
6g.36684510T>ACA363834642CDKN1Ac.409T>A (p.Ser137Thr)
n.603T>A
c.511T>A (p.Ser171Thr)
c.448T>A (p.Ser150Thr)
6g.36684510T>CCA363834641CDKN1Ac.409T>C (p.Ser137Pro)
n.603T>C
c.511T>C (p.Ser171Pro)
c.448T>C (p.Ser150Pro)
gnomAD v4
6g.36684510T>GCA363834640CDKN1Ac.409T>G (p.Ser137Ala)
n.603T>G
c.511T>G (p.Ser171Ala)
c.448T>G (p.Ser150Ala)
6g.36684511C>ACA363834643CDKN1Ac.410C>A (p.Ser137Tyr)
n.604C>A
c.512C>A (p.Ser171Tyr)
c.449C>A (p.Ser150Tyr)
dbSNP
6g.36684511C>GCA363834644CDKN1Ac.410C>G (p.Ser137Cys)
n.604C>G
c.512C>G (p.Ser171Cys)
c.449C>G (p.Ser150Cys)
6g.36684511C>TCA363834645CDKN1Ac.410C>T (p.Ser137Phe)
n.604C>T
c.512C>T (p.Ser171Phe)
c.449C>T (p.Ser150Phe)
dbSNP gnomAD v3 gnomAD v4
6g.36684512T>ACA450129166CDKN1Ac.411T>A (p.Ser137=)
c.513T>A (p.Ser171=)
c.450T>A (p.Ser150=)
6g.36684512T>CCA450129168CDKN1Ac.411T>C (p.Ser137=)
c.513T>C (p.Ser171=)
c.450T>C (p.Ser150=)
6g.36684512T>GCA450129167CDKN1Ac.411T>G (p.Ser137=)
c.513T>G (p.Ser171=)
c.450T>G (p.Ser150=)
6g.36684513C>ACA363834646CDKN1Ac.412C>A (p.Gln138Lys)
c.514C>A (p.Gln172Lys)
c.451C>A (p.Gln151Lys)
6g.36684513C>GCA363834647CDKN1Ac.412C>G (p.Gln138Glu)
c.514C>G (p.Gln172Glu)
c.451C>G (p.Gln151Glu)
gnomAD v4 COSMIC
6g.36684513C>TCA363834648CDKN1Ac.412C>T (p.Gln138Ter)
c.514C>T (p.Gln172Ter)
c.451C>T (p.Gln151Ter)
6g.36684514A>CCA363834649CDKN1Ac.413A>C (p.Gln138Pro)
c.515A>C (p.Gln172Pro)
c.452A>C (p.Gln151Pro)
6g.36684514A>GCA363834650CDKN1Ac.413A>G (p.Gln138Arg)
c.515A>G (p.Gln172Arg)
c.452A>G (p.Gln151Arg)
dbSNP
6g.36684514A>TCA363834651CDKN1Ac.413A>T (p.Gln138Leu)
c.515A>T (p.Gln172Leu)
c.452A>T (p.Gln151Leu)
6g.36684515G>ACA450129169CDKN1Ac.414G>A (p.Gln138=)
c.516G>A (p.Gln172=)
c.453G>A (p.Gln151=)
6g.36684515G>CCA363834652CDKN1Ac.414G>C (p.Gln138His)
c.516G>C (p.Gln172His)
c.453G>C (p.Gln151His)
6g.36684515G>TCA363834653CDKN1Ac.414G>T (p.Gln138His)
c.516G>T (p.Gln172His)
c.453G>T (p.Gln151His)
6g.36684516G>ACA363834654CDKN1Ac.415G>A (p.Gly139Ser)
c.517G>A (p.Gly173Ser)
c.454G>A (p.Gly152Ser)
6g.36684516G>CCA363834655CDKN1Ac.415G>C (p.Gly139Arg)
c.517G>C (p.Gly173Arg)
c.454G>C (p.Gly152Arg)
dbSNP gnomAD v4
6g.36684516G=CA1621457067CDKN1Ac.415G= (p.Gly139=)
c.517G= (p.Gly173=)
c.454G= (p.Gly152=)
6g.36684516G>TCA363834656CDKN1Ac.415G>T (p.Gly139Cys)
c.517G>T (p.Gly173Cys)
c.454G>T (p.Gly152Cys)
gnomAD v4
6g.36684517G>ACA363834658CDKN1Ac.416G>A (p.Gly139Asp)
c.518G>A (p.Gly173Asp)
c.455G>A (p.Gly152Asp)
6g.36684517G>CCA363834659CDKN1Ac.416G>C (p.Gly139Ala)
c.518G>C (p.Gly173Ala)
c.455G>C (p.Gly152Ala)
6g.36684517G=CA1621457068CDKN1Ac.416G= (p.Gly139=)
c.518G= (p.Gly173=)
c.455G= (p.Gly152=)
6g.36684517G>TCA363834657CDKN1Ac.416G>T (p.Gly139Val)
c.518G>T (p.Gly173Val)
c.455G>T (p.Gly152Val)
dbSNP
6g.36684518T>ACA450129173CDKN1Ac.417T>A (p.Gly139=)
c.519T>A (p.Gly173=)
c.456T>A (p.Gly152=)
dbSNP
6g.36684518T>CCA450129174CDKN1Ac.417T>C (p.Gly139=)
c.519T>C (p.Gly173=)
c.456T>C (p.Gly152=)
dbSNP
6g.36684518T>GCA450129175CDKN1Ac.417T>G (p.Gly139=)
c.519T>G (p.Gly173=)
c.456T>G (p.Gly152=)
dbSNP
6g.36684518T=CA1621457069CDKN1Ac.417T= (p.Gly139=)
c.519T= (p.Gly173=)
c.456T= (p.Gly152=)
6g.36684519C>ACA450129176CDKN1Ac.418C>A (p.Arg140=)
c.520C>A (p.Arg174=)
c.457C>A (p.Arg153=)
6g.36684519C=CA1621457070CDKN1Ac.418C= (p.Arg140=)
c.520C= (p.Arg174=)
c.457C= (p.Arg153=)
6g.36684519C>GCA363834660CDKN1Ac.418C>G (p.Arg140Gly)
c.520C>G (p.Arg174Gly)
c.457C>G (p.Arg153Gly)
gnomAD v4
6g.36684519C>TCA3780401CDKN1Ac.418C>T (p.Arg140Ter)
c.520C>T (p.Arg174Ter)
c.457C>T (p.Arg153Ter)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
6g.36684520G>ACA3780402CDKN1Ac.419G>A (p.Arg140Gln)
c.521G>A (p.Arg174Gln)
c.458G>A (p.Arg153Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.36684520G>CCA363834661CDKN1Ac.419G>C (p.Arg140Pro)
c.521G>C (p.Arg174Pro)
c.458G>C (p.Arg153Pro)
6g.36684520G=CA1621457071CDKN1Ac.419G= (p.Arg140=)
c.521G= (p.Arg174=)
c.458G= (p.Arg153=)
6g.36684520G>TCA363834662CDKN1Ac.419G>T (p.Arg140Leu)
c.521G>T (p.Arg174Leu)
c.458G>T (p.Arg153Leu)
gnomAD v4
6g.36684520_36684521delCA645545328CDKN1Ac.419_420del (p.Arg140GlnfsTer?)
c.521_522del (p.Arg174GlnfsTer?)
c.458_459del (p.Arg153GlnfsTer?)
c.419_420del (p.Arg140GlnfsTer19)
COSMIC COSMIC
6g.36684521A=CA1621457072CDKN1Ac.420A= (p.Arg140=)
c.522A= (p.Arg174=)
c.459A= (p.Arg153=)
6g.36684521A>CCA450129178CDKN1Ac.420A>C (p.Arg140=)
c.522A>C (p.Arg174=)
c.459A>C (p.Arg153=)
6g.36684521A>GCA3780403CDKN1Ac.420A>G (p.Arg140=)
c.522A>G (p.Arg174=)
c.459A>G (p.Arg153=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.36684521A>TCA450129179CDKN1Ac.420A>T (p.Arg140=)
c.522A>T (p.Arg174=)
c.459A>T (p.Arg153=)
6g.36684524dupCA2678467019CDKN1Ac.423dup (p.Arg142ThrfsTer?)
c.525dup (p.Arg176ThrfsTer?)
c.462dup (p.Arg155ThrfsTer?)
c.423dup (p.Arg142ThrfsTer18)
gnomAD v4
6g.36684522A>CCA363834663CDKN1Ac.421A>C (p.Lys141Gln)
c.523A>C (p.Lys175Gln)
c.460A>C (p.Lys154Gln)
6g.36684522A>GCA363834664CDKN1Ac.421A>G (p.Lys141Glu)
c.523A>G (p.Lys175Glu)
c.460A>G (p.Lys154Glu)
6g.36684522A>TCA363834665CDKN1Ac.421A>T (p.Lys141Ter)
c.523A>T (p.Lys175Ter)
c.460A>T (p.Lys154Ter)
6g.36684523A>CCA363834666CDKN1Ac.422A>C (p.Lys141Thr)
c.524A>C (p.Lys175Thr)
c.461A>C (p.Lys154Thr)
6g.36684523A>GCA363834667CDKN1Ac.422A>G (p.Lys141Arg)
c.524A>G (p.Lys175Arg)
c.461A>G (p.Lys154Arg)
6g.36684523A>TCA363834668CDKN1Ac.422A>T (p.Lys141Ile)
c.524A>T (p.Lys175Ile)
c.461A>T (p.Lys154Ile)
6g.36684524A>CCA363834669CDKN1Ac.423A>C (p.Lys141Asn)
c.525A>C (p.Lys175Asn)
c.462A>C (p.Lys154Asn)
6g.36684524A>GCA450129183CDKN1Ac.423A>G (p.Lys141=)
c.525A>G (p.Lys175=)
c.462A>G (p.Lys154=)
gnomAD v4
6g.36684524A>TCA363834670CDKN1Ac.423A>T (p.Lys141Asn)
c.525A>T (p.Lys175Asn)
c.462A>T (p.Lys154Asn)
6g.36684525C>ACA450129184CDKN1Ac.424C>A (p.Arg142=)
c.526C>A (p.Arg176=)
c.463C>A (p.Arg155=)
6g.36684525C=CA1621457073CDKN1Ac.424C= (p.Arg142=)
c.526C= (p.Arg176=)
c.463C= (p.Arg155=)
6g.36684525C>GCA363834671CDKN1Ac.424C>G (p.Arg142Gly)
c.526C>G (p.Arg176Gly)
c.463C>G (p.Arg155Gly)
6g.36684525C>TCA3780404CDKN1Ac.424C>T (p.Arg142Trp)
c.526C>T (p.Arg176Trp)
c.463C>T (p.Arg155Trp)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.36684526G>ACA3780405CDKN1Ac.425G>A (p.Arg142Gln)
c.527G>A (p.Arg176Gln)
c.464G>A (p.Arg155Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.36684526G>CCA363834672CDKN1Ac.425G>C (p.Arg142Pro)
c.527G>C (p.Arg176Pro)
c.464G>C (p.Arg155Pro)
gnomAD v4
6g.36684526G=CA1621457074CDKN1Ac.425G= (p.Arg142=)
c.527G= (p.Arg176=)
c.464G= (p.Arg155=)
6g.36684526G>TCA363834673CDKN1Ac.425G>T (p.Arg142Leu)
c.527G>T (p.Arg176Leu)
c.464G>T (p.Arg155Leu)
6g.36684527G>ACA450129187CDKN1Ac.426G>A (p.Arg142=)
c.528G>A (p.Arg176=)
c.465G>A (p.Arg155=)
dbSNP
6g.36684527G>CCA450129188CDKN1Ac.426G>C (p.Arg142=)
c.528G>C (p.Arg176=)
c.465G>C (p.Arg155=)
6g.36684527G=CA1621457075CDKN1Ac.426G= (p.Arg142=)
c.528G= (p.Arg176=)
c.465G= (p.Arg155=)
6g.36684527G>TCA450129189CDKN1Ac.426G>T (p.Arg142=)
c.528G>T (p.Arg176=)
c.465G>T (p.Arg155=)
6g.36684528C>ACA450129190CDKN1Ac.427C>A (p.Arg143=)
c.529C>A (p.Arg177=)
c.466C>A (p.Arg156=)
6g.36684528C=CA1621457076CDKN1Ac.427C= (p.Arg143=)
c.529C= (p.Arg177=)
c.466C= (p.Arg156=)
6g.36684528C>GCA363834674CDKN1Ac.427C>G (p.Arg143Gly)
c.529C>G (p.Arg177Gly)
c.466C>G (p.Arg156Gly)
dbSNP
6g.36684528C>TCA3780406CDKN1Ac.427C>T (p.Arg143Trp)
c.529C>T (p.Arg177Trp)
c.466C>T (p.Arg156Trp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
6g.36684529G>ACA3780407CDKN1Ac.428G>A (p.Arg143Gln)
c.530G>A (p.Arg177Gln)
c.467G>A (p.Arg156Gln)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.36684529G>CCA363834675CDKN1Ac.428G>C (p.Arg143Pro)
c.530G>C (p.Arg177Pro)
c.467G>C (p.Arg156Pro)
6g.36684529G=CA1621457077CDKN1Ac.428G= (p.Arg143=)
c.530G= (p.Arg177=)
c.467G= (p.Arg156=)
6g.36684529G>TCA363834676CDKN1Ac.428G>T (p.Arg143Leu)
c.530G>T (p.Arg177Leu)
c.467G>T (p.Arg156Leu)
6g.36684530G>ACA450129192CDKN1Ac.429G>A (p.Arg143=)
c.531G>A (p.Arg177=)
c.468G>A (p.Arg156=)
dbSNP
6g.36684530G>CCA450129193CDKN1Ac.429G>C (p.Arg143=)
c.531G>C (p.Arg177=)
c.468G>C (p.Arg156=)
6g.36684530G>TCA450129194CDKN1Ac.429G>T (p.Arg143=)
c.531G>T (p.Arg177=)
c.468G>T (p.Arg156=)
gnomAD v4
6g.36684531C>ACA363834677CDKN1Ac.430C>A (p.Gln144Lys)
c.532C>A (p.Gln178Lys)
c.469C>A (p.Gln157Lys)
6g.36684531C=CA1621457078CDKN1Ac.430C= (p.Gln144=)
c.532C= (p.Gln178=)
c.469C= (p.Gln157=)
6g.36684531C>GCA363834678CDKN1Ac.430C>G (p.Gln144Glu)
c.532C>G (p.Gln178Glu)
c.469C>G (p.Gln157Glu)
dbSNP
6g.36684531C>TCA363834679CDKN1Ac.430C>T (p.Gln144Ter)
c.532C>T (p.Gln178Ter)
c.469C>T (p.Gln157Ter)
dbSNP
6g.36684532A>CCA363834680CDKN1Ac.431A>C (p.Gln144Pro)
c.533A>C (p.Gln178Pro)
c.470A>C (p.Gln157Pro)
6g.36684532A>GCA363834682CDKN1Ac.431A>G (p.Gln144Arg)
c.533A>G (p.Gln178Arg)
c.470A>G (p.Gln157Arg)
6g.36684532A>TCA363834681CDKN1Ac.431A>T (p.Gln144Leu)
c.533A>T (p.Gln178Leu)
c.470A>T (p.Gln157Leu)
6g.36684533G>ACA450129195CDKN1Ac.432G>A (p.Gln144=)
c.534G>A (p.Gln178=)
c.471G>A (p.Gln157=)
dbSNP gnomAD v3 gnomAD v4
6g.36684533G>CCA363834683CDKN1Ac.432G>C (p.Gln144His)
c.534G>C (p.Gln178His)
c.471G>C (p.Gln157His)
6g.36684533G=CA1621457079CDKN1Ac.432G= (p.Gln144=)
c.534G= (p.Gln178=)
c.471G= (p.Gln157=)
6g.36684533G>TCA3780408CDKN1Ac.432G>T (p.Gln144His)
c.534G>T (p.Gln178His)
c.471G>T (p.Gln157His)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.36684534A>CCA363834684CDKN1Ac.433A>C (p.Thr145Pro)
c.535A>C (p.Thr179Pro)
c.472A>C (p.Thr158Pro)
6g.36684534A>GCA363834686CDKN1Ac.433A>G (p.Thr145Ala)
c.535A>G (p.Thr179Ala)
c.472A>G (p.Thr158Ala)
6g.36684534A>TCA363834685CDKN1Ac.433A>T (p.Thr145Ser)
c.535A>T (p.Thr179Ser)
c.472A>T (p.Thr158Ser)
6g.36684535C>ACA363834687CDKN1Ac.434C>A (p.Thr145Asn)
c.536C>A (p.Thr179Asn)
c.473C>A (p.Thr158Asn)
6g.36684535C>GCA363834688CDKN1Ac.434C>G (p.Thr145Ser)
c.536C>G (p.Thr179Ser)
c.473C>G (p.Thr158Ser)
dbSNP
6g.36684535C>TCA363834689CDKN1Ac.434C>T (p.Thr145Ile)
c.536C>T (p.Thr179Ile)
c.473C>T (p.Thr158Ile)
dbSNP
6g.36684536C>ACA450129197CDKN1Ac.435C>A (p.Thr145=)
c.537C>A (p.Thr179=)
c.474C>A (p.Thr158=)
6g.36684536C>GCA450129198CDKN1Ac.435C>G (p.Thr145=)
c.537C>G (p.Thr179=)
c.474C>G (p.Thr158=)
6g.36684536C>TCA450129200CDKN1Ac.435C>T (p.Thr145=)
c.537C>T (p.Thr179=)
c.474C>T (p.Thr158=)
gnomAD v4
6g.36684537A>CCA363834690CDKN1Ac.436A>C (p.Ser146Arg)
c.538A>C (p.Ser180Arg)
c.475A>C (p.Ser159Arg)
6g.36684537A>GCA363834691CDKN1Ac.436A>G (p.Ser146Gly)
c.538A>G (p.Ser180Gly)
c.475A>G (p.Ser159Gly)
6g.36684537A>TCA363834692CDKN1Ac.436A>T (p.Ser146Cys)
c.538A>T (p.Ser180Cys)
c.475A>T (p.Ser159Cys)
6g.36684538G>ACA363834693CDKN1Ac.437G>A (p.Ser146Asn)
c.539G>A (p.Ser180Asn)
c.476G>A (p.Ser159Asn)
dbSNP
6g.36684538G>CCA363834694CDKN1Ac.437G>C (p.Ser146Thr)
c.539G>C (p.Ser180Thr)
c.476G>C (p.Ser159Thr)
6g.36684538G>TCA363834695CDKN1Ac.437G>T (p.Ser146Ile)
c.539G>T (p.Ser180Ile)
c.476G>T (p.Ser159Ile)
6g.36684539C>ACA363834696CDKN1Ac.438C>A (p.Ser146Arg)
c.540C>A (p.Ser180Arg)
c.477C>A (p.Ser159Arg)
6g.36684539C=CA1621457080CDKN1Ac.438C= (p.Ser146=)
c.540C= (p.Ser180=)
c.477C= (p.Ser159=)
6g.36684539C>GCA363834697CDKN1Ac.438C>G (p.Ser146Arg)
c.540C>G (p.Ser180Arg)
c.477C>G (p.Ser159Arg)
6g.36684539C>TCA3780409CDKN1Ac.438C>T (p.Ser146=)
c.540C>T (p.Ser180=)
c.477C>T (p.Ser159=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.36684540A=CA1621457081CDKN1Ac.439A= (p.Met147=)
c.541A= (p.Met181=)
c.478A= (p.Met160=)
6g.36684540A>CCA3780411CDKN1Ac.439A>C (p.Met147Leu)
c.541A>C (p.Met181Leu)
c.478A>C (p.Met160Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.36684540A>GCA3780410CDKN1Ac.439A>G (p.Met147Val)
c.541A>G (p.Met181Val)
c.478A>G (p.Met160Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.36684540A>TCA363834698CDKN1Ac.439A>T (p.Met147Leu)
c.541A>T (p.Met181Leu)
c.478A>T (p.Met160Leu)
6g.36684541T>ACA363834699CDKN1Ac.440T>A (p.Met147Lys)
c.542T>A (p.Met181Lys)
c.479T>A (p.Met160Lys)
6g.36684541T>CCA363834700CDKN1Ac.440T>C (p.Met147Thr)
c.542T>C (p.Met181Thr)
c.479T>C (p.Met160Thr)
6g.36684541T>GCA363834701CDKN1Ac.440T>G (p.Met147Arg)
c.542T>G (p.Met181Arg)
c.479T>G (p.Met160Arg)
6g.36684541T=CA1621457082CDKN1Ac.440T= (p.Met147=)
c.542T= (p.Met181=)
c.479T= (p.Met160=)
6g.36684542G>ACA363834702CDKN1Ac.441G>A (p.Met147Ile)
c.543G>A (p.Met181Ile)
c.480G>A (p.Met160Ile)
6g.36684542G>CCA363834703CDKN1Ac.441G>C (p.Met147Ile)
c.543G>C (p.Met181Ile)
c.480G>C (p.Met160Ile)
6g.36684542G>TCA363834704CDKN1Ac.441G>T (p.Met147Ile)
c.543G>T (p.Met181Ile)
c.480G>T (p.Met160Ile)
gnomAD v4
6g.36684546_36684555dupCA3780412CDKN1Ac.445_445+9dup
c.547_547+9dup
c.484_484+9dup
c.445_454dup (p.Met152ArgfsTer11)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.36684543A>CCA363834705CDKN1Ac.442A>C (p.Thr148Pro)
c.544A>C (p.Thr182Pro)
c.481A>C (p.Thr161Pro)
6g.36684543A>GCA363834706CDKN1Ac.442A>G (p.Thr148Ala)
c.544A>G (p.Thr182Ala)
c.481A>G (p.Thr161Ala)
6g.36684543A>TCA363834707CDKN1Ac.442A>T (p.Thr148Ser)
c.544A>T (p.Thr182Ser)
c.481A>T (p.Thr161Ser)
6g.36684544C>ACA363834709CDKN1Ac.443C>A (p.Thr148Lys)
c.545C>A (p.Thr182Lys)
c.482C>A (p.Thr161Lys)
6g.36684544C>GCA363834710CDKN1Ac.443C>G (p.Thr148Arg)
c.545C>G (p.Thr182Arg)
c.482C>G (p.Thr161Arg)
6g.36684544C>TCA363834708CDKN1Ac.443C>T (p.Thr148Ile)
c.545C>T (p.Thr182Ile)
c.482C>T (p.Thr161Ile)
6g.36684545A>CCA450129204CDKN1Ac.444A>C (p.Thr148=)
c.546A>C (p.Thr182=)
c.483A>C (p.Thr161=)
6g.36684545A>GCA450129205CDKN1Ac.444A>G (p.Thr148=)
c.546A>G (p.Thr182=)
c.483A>G (p.Thr161=)
6g.36684545A>TCA450129206CDKN1Ac.444A>T (p.Thr148=)
c.546A>T (p.Thr182=)
c.483A>T (p.Thr161=)
6g.36684545_36684546delCA2578600455CDKN1Ac.444_445del (p.Asp149PhefsTer?)
c.546_547del (p.Asp183PhefsTer?)
c.483_484del (p.Asp162PhefsTer?)
c.444_445del (p.Gly149CysfsTer10)
c.444_445del (p.Val149LeufsTer?)
gnomAD v4
6g.36684546G>ACA363834711CDKN1Ac.445G>A (p.Asp149Asn)
c.547G>A (p.Asp183Asn)
c.484G>A (p.Asp162Asn)
c.445G>A (p.Gly149Ser)
c.445G>A (p.Val149Ile)
dbSNP
6g.36684546G>CCA363834712CDKN1Ac.445G>C (p.Asp149His)
c.547G>C (p.Asp183His)
c.484G>C (p.Asp162His)
c.445G>C (p.Gly149Arg)
c.445G>C (p.Val149Leu)
dbSNP COSMIC COSMIC
6g.36684546G=CA1621457083CDKN1Ac.445G= (p.Asp149=)
c.547G= (p.Asp183=)
c.484G= (p.Asp162=)
c.445G= (p.Gly149=)
c.445G= (p.Val149=)
6g.36684546G>TCA363834713CDKN1Ac.445G>T (p.Asp149Tyr)
c.547G>T (p.Asp183Tyr)
c.484G>T (p.Asp162Tyr)
c.445G>T (p.Gly149Cys)
c.445G>T (p.Val149Phe)
6g.36684547_36684549delCA2711444419CDKN1Ac.445+1_445+3del
c.547+1_547+3del
c.484+1_484+3del
c.446_448del (p.Gly149del)
dbSNP
6g.36684546_36684547insATTTCTACCACTCCAAACGCCGGCTGATCTTCTCCAACA2711444442CDKN1Ac.445_445+1insATTTCTACCACTCCAAACGCCGGCTGATCTTCTCCAA (n.445_445+1insATTTCTACCACTCCAAACGCCGGCTGATCTTCTCCAA)
c.547_547+1insATTTCTACCACTCCAAACGCCGGCTGATCTTCTCCAA (n.547_547+1insATTTCTACCACTCCAAACGCCGGCTGATCTTCTCCAA)
c.484_484+1insATTTCTACCACTCCAAACGCCGGCTGATCTTCTCCAA (n.484_484+1insATTTCTACCACTCCAAACGCCGGCTGATCTTCTCCAA)
c.445_446insATTTCTACCACTCCAAACGCCGGCTGATCTTCTCCAA (p.Gly149AspfsTer23)
dbSNP
6g.36684547G>ACA363834714CDKN1Ac.445+1G>A (n.445+1G>A)
c.547+1G>A (n.547+1G>A)
c.484+1G>A (n.484+1G>A)
c.446G>A (p.Gly149Asp)
dbSNP
6g.36684547G>CCA363834715CDKN1Ac.445+1G>C (n.445+1G>C)
c.547+1G>C (n.547+1G>C)
c.484+1G>C (n.484+1G>C)
c.446G>C (p.Gly149Ala)
6g.36684547G>TCA363834716CDKN1Ac.445+1G>T (n.445+1G>T)
c.547+1G>T (n.547+1G>T)
c.484+1G>T (n.484+1G>T)
c.446G>T (p.Gly149Val)
6g.36684548T>ACA363834717CDKN1Ac.445+2T>A (n.445+2T>A)
c.547+2T>A (n.547+2T>A)
c.484+2T>A (n.484+2T>A)
c.447T>A (p.Gly149=)
6g.36684548T>CCA363834718CDKN1Ac.445+2T>C (n.445+2T>C)
c.547+2T>C (n.547+2T>C)
c.484+2T>C (n.484+2T>C)
c.447T>C (p.Gly149=)
6g.36684548T>GCA363834719CDKN1Ac.445+2T>G (n.445+2T>G)
c.547+2T>G (n.547+2T>G)
c.484+2T>G (n.484+2T>G)
c.447T>G (p.Gly149=)
dbSNP
6g.36684548T=CA1621457084CDKN1Ac.445+2T= (n.445+2T=)
c.547+2T= (n.547+2T=)
c.484+2T= (n.484+2T=)
c.447T= (p.Gly149=)
6g.36684548_36684549insTTCTACCACTCCAAACCA2711444454CDKN1Ac.445+2_445+3insTTCTACCACTCCAAAC (n.445+2_445+3insTTCTACCACTCCAAAC)
c.547+2_547+3insTTCTACCACTCCAAAC (n.547+2_547+3insTTCTACCACTCCAAAC)
c.484+2_484+3insTTCTACCACTCCAAAC (n.484+2_484+3insTTCTACCACTCCAAAC)
c.447_448insTTCTACCACTCCAAAC (p.Ala150PhefsTer15)
dbSNP
6g.36684549G>ACA3780413CDKN1Ac.445+3G>A (n.445+3G>A)
c.547+3G>A (n.547+3G>A)
c.484+3G>A (n.484+3G>A)
c.448G>A (p.Ala150Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.36684549G=CA1621457085CDKN1Ac.445+3G= (n.445+3G=)
c.547+3G= (n.547+3G=)
c.484+3G= (n.484+3G=)
c.448G= (p.Ala150=)
6g.36684550C>ACA2711129926CDKN1Ac.445+4C>A (n.445+4C>A)
c.547+4C>A (n.547+4C>A)
c.484+4C>A (n.484+4C>A)
c.449C>A (p.Ala150Glu)
dbSNP
6g.36684550C=CA1621457086CDKN1Ac.445+4C= (n.445+4C=)
c.547+4C= (n.547+4C=)
c.484+4C= (n.484+4C=)
c.449C= (p.Ala150=)
6g.36684550C>GCA3780415CDKN1Ac.445+4C>G (n.445+4C>G)
c.547+4C>G (n.547+4C>G)
c.484+4C>G (n.484+4C>G)
c.449C>G (p.Ala150Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.36684550C>TCA3780414CDKN1Ac.445+4C>T (n.445+4C>T)
c.547+4C>T (n.547+4C>T)
c.484+4C>T (n.484+4C>T)
c.449C>T (p.Ala150Val)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.36684551G>ACA3780416CDKN1Ac.445+5G>A (n.445+5G>A)
c.547+5G>A (n.547+5G>A)
c.484+5G>A (n.484+5G>A)
c.450G>A (p.Ala150=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.36684551G>CCA2711131457CDKN1Ac.445+5G>C (n.445+5G>C)
c.547+5G>C (n.547+5G>C)
c.484+5G>C (n.484+5G>C)
c.450G>C (p.Ala150=)
dbSNP
6g.36684551G=CA1621457087CDKN1Ac.445+5G= (n.445+5G=)
c.547+5G= (n.547+5G=)
c.484+5G= (n.484+5G=)
c.450G= (p.Ala150=)
6g.36684551G>TCA2678467025CDKN1Ac.445+5G>T (n.445+5G>T)
c.547+5G>T (n.547+5G>T)
c.484+5G>T (n.484+5G>T)
c.450G>T (p.Ala150=)
gnomAD v4
6g.36684551_36684555delCA2578600456CDKN1Ac.445+5_445+9del (n.445+5_445+9del)
c.547+5_547+9del (n.547+5_547+9del)
c.484+5_484+9del (n.484+5_484+9del)
c.450_454del (p.Asp151ValfsTer7)
gnomAD v4
6g.36684553A=CA1621457088CDKN1Ac.445+7A= (n.445+7A=)
c.547+7A= (n.547+7A=)
c.484+7A= (n.484+7A=)
c.452A= (p.Asp151=)
6g.36684553A>GCA3780417CDKN1Ac.445+7A>G (n.445+7A>G)
c.547+7A>G (n.547+7A>G)
c.484+7A>G (n.484+7A>G)
c.452A>G (p.Asp151Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
6g.36684554C>ACA566704491CDKN1Ac.445+8C>A (n.445+8C>A)
c.547+8C>A (n.547+8C>A)
c.484+8C>A (n.484+8C>A)
c.453C>A (p.Asp151Glu)
dbSNP gnomAD v2 gnomAD v4
6g.36684554C=CA1621457089CDKN1Ac.445+8C= (n.445+8C=)
c.547+8C= (n.547+8C=)
c.484+8C= (n.484+8C=)
c.453C= (p.Asp151=)
6g.36684555A=CA1621457090CDKN1Ac.445+9A= (n.445+9A=)
c.547+9A= (n.547+9A=)
c.484+9A= (n.484+9A=)
c.454A= (p.Met152=)
6g.36684555A>GCA1621457091CDKN1Ac.445+9A>G (n.445+9A>G)
c.547+9A>G (n.547+9A>G)
c.484+9A>G (n.484+9A>G)
c.454A>G (p.Met152Val)
dbSNP
6g.36684556T>CCA1621457093CDKN1Ac.445+10T>C (n.445+10T>C)
c.547+10T>C (n.547+10T>C)
c.484+10T>C (n.484+10T>C)
c.455T>C (p.Met152Thr)
dbSNP gnomAD v4
6g.36684556T=CA1621457092CDKN1Ac.445+10T= (n.445+10T=)
c.547+10T= (n.547+10T=)
c.484+10T= (n.484+10T=)
c.455T= (p.Met152=)
6g.36684557G>ACA3780418CDKN1Ac.445+11G>A (n.445+11G>A)
c.547+11G>A (n.547+11G>A)
c.484+11G>A (n.484+11G>A)
c.456G>A (p.Met152Ile)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.36684557G=CA1621457094CDKN1Ac.445+11G= (n.445+11G=)
c.547+11G= (n.547+11G=)
c.484+11G= (n.484+11G=)
c.456G= (p.Met152=)
6g.36684559G>ACA137423760CDKN1Ac.445+13G>A (n.445+13G>A)
c.547+13G>A (n.547+13G>A)
c.484+13G>A (n.484+13G>A)
c.458G>A (p.Cys153Tyr)
dbSNP gnomAD v3 gnomAD v4
6g.36684559G=CA1621457095CDKN1Ac.445+13G= (n.445+13G=)
c.547+13G= (n.547+13G=)
c.484+13G= (n.484+13G=)
c.458G= (p.Cys153=)
6g.36684560C>ACA2678467027CDKN1Ac.445+14C>A (n.445+14C>A)
c.547+14C>A (n.547+14C>A)
c.484+14C>A (n.484+14C>A)
c.459C>A (p.Cys153Ter)
gnomAD v4
6g.36684560C>TCA2678467028CDKN1Ac.445+14C>T (n.445+14C>T)
c.547+14C>T (n.547+14C>T)
c.484+14C>T (n.484+14C>T)
c.459C>T (p.Cys153=)
gnomAD v4
6g.36684561A=CA1621457096CDKN1Ac.445+15A= (n.445+15A=)
c.547+15A= (n.547+15A=)
c.484+15A= (n.484+15A=)
c.460A= (p.Thr154=)
6g.36684561A>CCA566704492CDKN1Ac.445+15A>C (n.445+15A>C)
c.547+15A>C (n.547+15A>C)
c.484+15A>C (n.484+15A>C)
c.460A>C (p.Thr154Pro)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.36684561A>GCA824302677CDKN1Ac.445+15A>G (n.445+15A>G)
c.547+15A>G (n.547+15A>G)
c.484+15A>G (n.484+15A>G)
c.460A>G (p.Thr154Ala)
dbSNP gnomAD v3 gnomAD v4
6g.36684562C>ACA137423766CDKN1Ac.445+16C>A (n.445+16C>A)
c.547+16C>A (n.547+16C>A)
c.484+16C>A (n.484+16C>A)
c.461C>A (p.Thr154Lys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.36684562C=CA1621457097CDKN1Ac.445+16C= (n.445+16C=)
c.547+16C= (n.547+16C=)
c.484+16C= (n.484+16C=)
c.461C= (p.Thr154=)
6g.36684562C>GCA3780419CDKN1Ac.445+16C>G (n.445+16C>G)
c.547+16C>G (n.547+16C>G)
c.484+16C>G (n.484+16C>G)
c.461C>G (p.Thr154Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.36684562C>TCA3780420CDKN1Ac.445+16C>T (n.445+16C>T)
c.547+16C>T (n.547+16C>T)
c.484+16C>T (n.484+16C>T)
c.461C>T (p.Thr154Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched