Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.2884833_2884899delinsCGCCGCGTCCGGGGCCGGGGCCGGGGCGGGGGCCGGGGCCGGGGCCGGGGCCGGGGCTGGGGCCGGGCA1948368381CDKN1Cn.142+735_143-699delinsCCCGGCCCCAGCCCCGGCCCCGGCCCCGGCCCCGGCCCCCGCCCCGGCCCCGGCCCCGGACGCGGCG
c.255+303_255+369delinsCCCGGCCCCAGCCCCGGCCCCGGCCCCGGCCCCGGCCCCCGCCCCGGCCCCGGCCCCGGACGCGGCG (n.255+303_255+369delinsCCCGGCCCCAGCCCCGGCCCCGGCCCCGGCCCCGGCCCCCGCCCCGGCCCCGGCCCCGGACGCGGCG)
c.591_657delinsCCCGGCCCCAGCCCCGGCCCCGGCCCCGGCCCCGGCCCCCGCCCCGGCCCCGGCCCCGGACGCGGCG (p.Ala197=)
c.558_624delinsCCCGGCCCCAGCCCCGGCCCCGGCCCCGGCCCCGGCCCCCGCCCCGGCCCCGGCCCCGGACGCGGCG (p.Ala186=)
11g.2884840_2884905delCA934495474CDKN1Cn.142+735_143-700del
c.255+303_255+368del (n.255+303_255+368del)
c.591_656del (p.Pro198_Ala219del)
c.558_623del (p.Pro187_Ala208del)
 dbSNP gnomAD v3 gnomAD v4
11g.2884851_2884922delCA2612014422CDKN1Cn.142+722_143-707del
c.255+290_255+361del (n.255+290_255+361del)
c.578_649del (p.Ala193_Pro216del)
c.545_616del (p.Ala182_Pro205del)
 gnomAD v4
11g.2884860_2884955delCA2612014421CDKN1Cn.142+698_143-707del
c.255+266_255+361del (n.255+266_255+361del)
c.554_649del (p.Ala185_Pro216del)
c.521_616del (p.Ala174_Pro205del)
 gnomAD v4
11g.2884855_2884956delCA2612014420CDKN1Cn.142+692_143-707del
c.255+260_255+361del (n.255+260_255+361del)
c.548_649del (p.Ala183_Pro216del)
c.515_616del (p.Ala172_Pro205del)
 gnomAD v4
11g.2884856_2884903delCA2499220884CDKN1Cn.142+744_143-709del
c.255+312_255+359del (n.255+312_255+359del)
c.600_647del (p.Ala201_Pro216del)
c.567_614del (p.Ala190_Pro205del)
 ClinVar dbSNP gnomAD v4
11g.2884857_2884922delCA2697548339CDKN1Cn.142+723_143-712del
c.255+291_255+356del (n.255+291_255+356del)
c.579_644del (p.Pro194_Ala215del)
c.546_611del (p.Pro183_Ala204del)
 ClinVar
11g.2884851_2884928delCA934495509CDKN1Cn.142+711_143-712del
c.255+279_255+356del (n.255+279_255+356del)
c.567_644del (p.Pro190_Ala215del)
c.534_611del (p.Pro179_Ala204del)
 gnomAD v3 gnomAD v4
11g.2884860_2884949delCA934495510CDKN1Cn.142+699_143-712del
c.255+267_255+356del (n.255+267_255+356del)
c.555_644del (p.Pro186_Ala215del)
c.522_611del (p.Pro175_Ala204del)
 gnomAD v3 gnomAD v4
11g.2884860_2884901dupCA2697548341CDKN1Cn.142+744_143-715dup
c.255+312_255+353dup (n.255+312_255+353dup)
c.600_641dup (p.Pro214_Ala215insAlaProAlaProAlaProAlaProAlaProAlaProAlaPro)
c.567_608dup (p.Pro203_Ala204insAlaProAlaProAlaProAlaProAlaProAlaProAlaPro)
 ClinVar
11g.2884860_2884901delCA2499220885CDKN1Cn.142+744_143-715del
c.255+312_255+353del (n.255+312_255+353del)
c.600_641del (p.Ala201_Pro214del)
c.567_608del (p.Ala190_Pro203del)
 ClinVar dbSNP gnomAD v4
11g.2884860_2884943delCA2612014428CDKN1Cn.142+699_143-718del
c.255+267_255+350del (n.255+267_255+350del)
c.555_638del (p.Pro186_Ala213del)
c.522_605del (p.Pro175_Ala202del)
 gnomAD v4
11g.2884860_2884895delCA2739276082CDKN1Cn.142+744_143-721del
c.255+312_255+347del (n.255+312_255+347del)
c.600_635del (p.Ala201_Pro212del)
c.567_602del (p.Ala190_Pro201del)
 ClinVar
11g.2884860_2884890delinsGGGGGCCGGGGCCGGGGCCGGGGCCGGGGCTCA1948368412CDKN1Cn.142+744_143-726delinsAGCCCCGGCCCCGGCCCCGGCCCCGGCCCCC
c.255+312_255+342delinsAGCCCCGGCCCCGGCCCCGGCCCCGGCCCCC (n.255+312_255+342delinsAGCCCCGGCCCCGGCCCCGGCCCCGGCCCCC)
c.600_630delinsAGCCCCGGCCCCGGCCCCGGCCCCGGCCCCC (p.Pro200=)
c.567_597delinsAGCCCCGGCCCCGGCCCCGGCCCCGGCCCCC (p.Pro189=)
11g.2884874_2884903dupCA658656114CDKN1Cn.142+744_143-727dup
c.255+312_255+341dup (n.255+312_255+341dup)
c.600_629dup (p.Pro210_Ala211insAlaProAlaProAlaProAlaProAlaPro)
c.567_596dup (p.Pro199_Ala200insAlaProAlaProAlaProAlaProAlaPro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884874_2884903delCA16613541CDKN1Cn.142+744_143-727del
c.255+312_255+341del (n.255+312_255+341del)
c.600_629del (p.Ala201_Pro210del)
c.567_596del (p.Ala190_Pro199del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884868_2884903delCA2612014431CDKN1Cn.142+738_143-727del
c.255+306_255+341del (n.255+306_255+341del)
c.594_629del (p.Ala199_Pro210del)
c.561_596del (p.Ala188_Pro199del)
 gnomAD v4
11g.2884879_2884956delCA2499220887CDKN1Cn.142+696_143-727del
c.255+264_255+341del (n.255+264_255+341del)
c.552_629del (p.Ala185_Pro210del)
c.519_596del (p.Ala174_Pro199del)
 ClinVar dbSNP gnomAD v4
11g.2884873_2884956delCA934495535CDKN1Cn.142+690_143-727del
c.255+258_255+341del (n.255+258_255+341del)
c.546_629del (p.Ala183_Pro210del)
c.513_596del (p.Ala172_Pro199del)
 gnomAD v3 gnomAD v4
11g.2884863_2884911delinsGGCCGGGGCCGGGGCCGGGGCCGGGGCTGGGGCCGGGGCCGCGACTGGACA1948368415CDKN1Cn.142+723_143-729delinsTCCAGTCGCGGCCCCGGCCCCAGCCCCGGCCCCGGCCCCGGCCCCGGCC
c.255+291_255+339delinsTCCAGTCGCGGCCCCGGCCCCAGCCCCGGCCCCGGCCCCGGCCCCGGCC (n.255+291_255+339delinsTCCAGTCGCGGCCCCGGCCCCAGCCCCGGCCCCGGCCCCGGCCCCGGCC)
c.579_627delinsTCCAGTCGCGGCCCCGGCCCCAGCCCCGGCCCCGGCCCCGGCCCCGGCC (p.Ala193=)
c.546_594delinsTCCAGTCGCGGCCCCGGCCCCAGCCCCGGCCCCGGCCCCGGCCCCGGCC (p.Ala182=)
11g.2884875_2884922delCA934495547CDKN1Cn.142+723_143-730del
c.255+291_255+338del (n.255+291_255+338del)
c.579_626del (p.Pro194_Ala209del)
c.546_593del (p.Pro183_Ala198del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884885_2884956dupCA2580082651CDKN1Cn.142+699_143-730dup
c.255+267_255+338dup (n.255+267_255+338dup)
c.555_626dup (p.Ala209_Pro210insProAlaProAlaProAlaProAlaProValAlaAlaProAlaProAlaProAlaProAlaProAlaProAla)
c.522_593dup (p.Ala198_Pro199insProAlaProAlaProAlaProAlaProValAlaAlaProAlaProAlaProAlaProAlaProAlaProAla)
 ClinVar
11g.2884866_2884890delinsCGGGGCCGGGGCCGGGGCCGGGGCTCA1948368419CDKN1Cn.142+744_143-732delinsAGCCCCGGCCCCGGCCCCGGCCCCG
c.255+312_255+336delinsAGCCCCGGCCCCGGCCCCGGCCCCG (n.255+312_255+336delinsAGCCCCGGCCCCGGCCCCGGCCCCG)
c.600_624delinsAGCCCCGGCCCCGGCCCCGGCCCCG (p.Pro200=)
c.567_591delinsAGCCCCGGCCCCGGCCCCGGCCCCG (p.Pro189=)
11g.2884880_2884903dupCA597432648CDKN1Cn.142+744_143-733dup
c.255+312_255+335dup (n.255+312_255+335dup)
c.600_623dup (p.Pro208_Ala209insAlaProAlaProAlaProAlaPro)
c.567_590dup (p.Pro197_Ala198insAlaProAlaProAlaProAlaPro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884880_2884903delCA10582895CDKN1Cn.142+744_143-733del
c.255+312_255+335del (n.255+312_255+335del)
c.600_623del (p.Ala201_Pro208del)
c.567_590del (p.Ala190_Pro197del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884881_2884922dupCA2499220889CDKN1Cn.142+723_143-736dup
c.255+291_255+332dup (n.255+291_255+332dup)
c.579_620dup (p.Ala207_Pro208insProValAlaAlaProAlaProAlaProAlaProAlaProAla)
c.546_587dup (p.Ala196_Pro197insProValAlaAlaProAlaProAlaProAlaProAlaProAla)
 ClinVar dbSNP
11g.2884890_2884955dupCA2499220888CDKN1Cn.142+699_143-736dup
c.255+267_255+332dup (n.255+267_255+332dup)
c.555_620dup (p.Ala207_Pro208insProAlaProAlaProAlaProAlaProValAlaAlaProAlaProAlaProAlaProAlaProAla)
c.522_587dup (p.Ala196_Pro197insProAlaProAlaProAlaProAlaProValAlaAlaProAlaProAlaProAlaProAlaProAla)
 ClinVar dbSNP
11g.2884890_2884955delCA2580082652CDKN1Cn.142+699_143-736del
c.255+267_255+332del (n.255+267_255+332del)
c.555_620del (p.Pro186_Ala207del)
c.522_587del (p.Pro175_Ala196del)
 ClinVar gnomAD v3 gnomAD v4
11g.2884872_2884890delinsCGGGGCCGGGGCCGGGGCTCA1948368424CDKN1Cn.142+744_143-738delinsAGCCCCGGCCCCGGCCCCG
c.255+312_255+330delinsAGCCCCGGCCCCGGCCCCG (n.255+312_255+330delinsAGCCCCGGCCCCGGCCCCG)
c.600_618delinsAGCCCCGGCCCCGGCCCCG (p.Pro200=)
c.567_585delinsAGCCCCGGCCCCGGCCCCG (p.Pro189=)
11g.2884886_2884903dupCA2499220890CDKN1Cn.142+744_143-739dup
c.255+312_255+329dup (n.255+312_255+329dup)
c.600_617dup (p.Pro206_Ala207insAlaProAlaProAlaPro)
c.567_584dup (p.Pro195_Ala196insAlaProAlaProAlaPro)
 ClinVar dbSNP gnomAD v4
11g.2884886_2884903delCA10582896CDKN1Cn.142+744_143-739del
c.255+312_255+329del (n.255+312_255+329del)
c.600_617del (p.Ala201_Pro206del)
c.567_584del (p.Ala190_Pro195del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884875_2884911delinsGGCCGGGGCCGGGGCTGGGGCCGGGGCCGCGACTGGACA1948368430CDKN1Cn.142+723_143-741delinsTCCAGTCGCGGCCCCGGCCCCAGCCCCGGCCCCGGCC
c.255+291_255+327delinsTCCAGTCGCGGCCCCGGCCCCAGCCCCGGCCCCGGCC (n.255+291_255+327delinsTCCAGTCGCGGCCCCGGCCCCAGCCCCGGCCCCGGCC)
c.579_615delinsTCCAGTCGCGGCCCCGGCCCCAGCCCCGGCCCCGGCC (p.Ala193=)
c.546_582delinsTCCAGTCGCGGCCCCGGCCCCAGCCCCGGCCCCGGCC (p.Ala182=)
11g.2884887_2884922delCA658797576CDKN1Cn.142+723_143-742del
c.255+291_255+326del (n.255+291_255+326del)
c.579_614del (p.Pro194_Ala205del)
c.546_581del (p.Pro183_Ala194del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884881_2884928delCA2612014444CDKN1Cn.142+711_143-742del
c.255+279_255+326del (n.255+279_255+326del)
c.567_614del (p.Pro190_Ala205del)
c.534_581del (p.Pro179_Ala194del)
 dbSNP gnomAD v4
11g.2884881_2884934delCA2548370571CDKN1Cn.142+705_143-742del
c.255+273_255+326del (n.255+273_255+326del)
c.561_614del (p.Pro188_Ala205del)
c.528_581del (p.Pro177_Ala194del)
11g.2884890_2884949delCA934495564CDKN1Cn.142+699_143-742del
c.255+267_255+326del (n.255+267_255+326del)
c.555_614del (p.Pro186_Ala205del)
c.522_581del (p.Pro175_Ala194del)
 gnomAD v3 gnomAD v4
11g.2884878_2884907delCA2499220891CDKN1Cn.142+728_143-743del
c.255+296_255+325del (n.255+296_255+325del)
c.584_613del (p.Val195_Pro204del)
c.551_580del (p.Val184_Pro193del)
 ClinVar dbSNP
11g.2884877_2884911delCA2790205443CDKN1Cn.142+723_143-743del
c.255+291_255+325del (n.255+291_255+325del)
c.579_613del (p.Val195GlyfsTer?)
c.546_580del (p.Val184GlyfsTer?)
11g.2884878_2884890delinsCGGGGCCGGGGCTCA1948368432CDKN1Cn.142+744_143-744delinsAGCCCCGGCCCCG
c.255+312_255+324delinsAGCCCCGGCCCCG (n.255+312_255+324delinsAGCCCCGGCCCCG)
c.600_612delinsAGCCCCGGCCCCG (p.Pro200=)
c.567_579delinsAGCCCCGGCCCCG (p.Pro189=)
11g.2884878_2884911delinsTGGGCA2573145969CDKN1Cn.142+723_143-744delinsCCCA
c.255+291_255+324delinsCCCA (n.255+291_255+324delinsCCCA)
c.579_612delinsCCCA (p.Val195_Pro204del)
c.546_579delinsCCCA (p.Val184_Pro193del)
 ClinVar dbSNP
11g.2884879_2884894delinsAGGACCGCGACTGCGACA2740093582CDKN1Cn.142+740_143-745delinsTCGCAGTCGCGGTCCT
c.255+308_255+323delinsTCGCAGTCGCGGTCCT (n.255+308_255+323delinsTCGCAGTCGCGGTCCT)
c.596_611delinsTCGCAGTCGCGGTCCT (p.Ala199_Pro204delinsValAlaValAlaValLeu)
c.563_578delinsTCGCAGTCGCGGTCCT (p.Ala188_Pro193delinsValAlaValAlaValLeu)
 ClinVar
11g.2884890_2884901dupCA10582898CDKN1Cn.142+744_143-745dup
c.255+312_255+323dup (n.255+312_255+323dup)
c.600_611dup (p.Pro204_Ala205insAlaProAlaPro)
c.567_578dup (p.Pro193_Ala194insAlaProAlaPro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884890_2884901delCA10582897CDKN1Cn.142+744_143-745del
c.255+312_255+323del (n.255+312_255+323del)
c.600_611del (p.Ala201_Pro204del)
c.567_578del (p.Ala190_Pro193del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884890_2884943delCA2590573252CDKN1Cn.142+699_143-748del
c.255+267_255+320del (n.255+267_255+320del)
c.555_608del (p.Pro186_Ala203del)
c.522_575del (p.Pro175_Ala192del)
 gnomAD v3 gnomAD v4
11g.2884890_2885015delCA2558132972CDKN1Cn.142+627_143-748del
c.255+195_255+320del (n.255+195_255+320del)
c.483_608del (p.Pro162_Ala203del)
c.450_575del (p.Pro151_Ala192del)
11g.2884884_2884890delinsCGGGGCTCA1948368441CDKN1Cn.142+744_143-750delinsAGCCCCG
c.255+312_255+318delinsAGCCCCG (n.255+312_255+318delinsAGCCCCG)
c.600_606delinsAGCCCCG (p.Pro200=)
c.567_573delinsAGCCCCG (p.Pro189=)
11g.2884890_2884895dupCA16613575CDKN1Cn.142+744_142+749dup
c.255+312_255+317dup (n.255+312_255+317dup)
c.600_605dup (p.Pro202_Ala203insAlaPro)
c.567_572dup (p.Pro191_Ala192insAlaPro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884890_2884895delCA597432649CDKN1Cn.142+744_142+749del
c.255+312_255+317del (n.255+312_255+317del)
c.600_605del (p.Ala201_Pro202del)
c.567_572del (p.Ala190_Pro191del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884889_2884893delCA2574728697CDKN1Cn.142+744_142+748del
c.255+312_255+316del (n.255+312_255+316del)
c.600_604del (p.Ala201GlyfsTer?)
c.567_571del (p.Ala190GlyfsTer?)
11g.2884886_2884895delCA2612014448CDKN1Cn.142+739_142+748del
c.255+307_255+316del (n.255+307_255+316del)
c.595_604del (p.Ala199ArgfsTer?)
c.562_571del (p.Ala188ArgfsTer?)
 gnomAD v4
11g.2884888_2884905dupCA2573145971CDKN1Cn.142+730_142+747dup
c.255+298_255+315dup (n.255+298_255+315dup)
c.586_603dup (p.Ala201_Pro202insAlaAlaProAlaProAla)
c.553_570dup (p.Ala190_Pro191insAlaAlaProAlaProAla)
 ClinVar dbSNP
11g.2884887_2884911delinsGGCTGGGGCCGGGGCCGCGACTGGACA1948368444CDKN1Cn.142+723_142+747delinsTCCAGTCGCGGCCCCGGCCCCAGCC
c.255+291_255+315delinsTCCAGTCGCGGCCCCGGCCCCAGCC (n.255+291_255+315delinsTCCAGTCGCGGCCCCGGCCCCAGCC)
c.579_603delinsTCCAGTCGCGGCCCCGGCCCCAGCC (p.Ala193=)
c.546_570delinsTCCAGTCGCGGCCCCGGCCCCAGCC (p.Ala182=)
11g.2884888_2884906delinsGCTGGGGCCGGGGCCGCGACA1948368445CDKN1Cn.142+728_142+746delinsTCGCGGCCCCGGCCCCAGC
c.255+296_255+314delinsTCGCGGCCCCGGCCCCAGC (n.255+296_255+314delinsTCGCGGCCCCGGCCCCAGC)
c.584_602delinsTCGCGGCCCCGGCCCCAGC (p.Val195=)
c.551_569delinsTCGCGGCCCCGGCCCCAGC (p.Val184=)
11g.2884890_2884913delCA915947942CDKN1Cn.142+723_142+746del
c.255+291_255+314del (n.255+291_255+314del)
c.579_602del (p.Pro194_Ala201del)
c.546_569del (p.Pro183_Ala190del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884890_2884925delCA2612014450CDKN1Cn.142+711_142+746del
c.255+279_255+314del (n.255+279_255+314del)
c.567_602del (p.Pro190_Ala201del)
c.534_569del (p.Pro179_Ala190del)
 gnomAD v4
11g.2884893_2884910delCA1948368448CDKN1Cn.142+728_142+745del
c.255+296_255+313del (n.255+296_255+313del)
c.584_601del (p.Val195_Pro200del)
c.551_568del (p.Val184_Pro189del)
 ClinVar dbSNP
11g.2884890T>ACA472832398CDKN1Cn.142+744A>T
c.255+312A>T (n.255+312A>T)
c.600A>T (p.Pro200=)
c.567A>T (p.Pro189=)
11g.2884890T>CCA10582899CDKN1Cn.142+744A>G
c.255+312A>G (n.255+312A>G)
c.600A>G (p.Pro200=)
c.567A>G (p.Pro189=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884890T>GCA472832400CDKN1Cn.142+744A>C
c.255+312A>C (n.255+312A>C)
c.600A>C (p.Pro200=)
c.567A>C (p.Pro189=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884890T=CA1948368452CDKN1Cn.142+744A=
c.255+312A= (n.255+312A=)
c.600A= (p.Pro200=)
c.567A= (p.Pro189=)
11g.2884890_2884902delinsTGGGGCCGGGGCCCA1948368451CDKN1Cn.142+732_142+744delinsGGCCCCGGCCCCA
c.255+300_255+312delinsGGCCCCGGCCCCA (n.255+300_255+312delinsGGCCCCGGCCCCA)
c.588_600delinsGGCCCCGGCCCCA (p.Ala196=)
c.555_567delinsGGCCCCGGCCCCA (p.Ala185=)
11g.2884890_2884914delinsTGGGGCCGGGGCCGCGACTGGAGCCCA1948368450CDKN1Cn.142+720_142+744delinsGGCTCCAGTCGCGGCCCCGGCCCCA
c.255+288_255+312delinsGGCTCCAGTCGCGGCCCCGGCCCCA (n.255+288_255+312delinsGGCTCCAGTCGCGGCCCCGGCCCCA)
c.576_600delinsGGCTCCAGTCGCGGCCCCGGCCCCA (p.Pro192=)
c.543_567delinsGGCTCCAGTCGCGGCCCCGGCCCCA (p.Pro181=)
11g.2884890_2884935delinsCGCGACTGGAGCCGGGGCCGGAGCCGGAGCCGGGCA2573145972CDKN1Cn.142+699_142+744delinsCCCGGCTCCGGCTCCGGCCCCGGCTCCAGTCGCG
c.255+267_255+312delinsCCCGGCTCCGGCTCCGGCCCCGGCTCCAGTCGCG (n.255+267_255+312delinsCCCGGCTCCGGCTCCGGCCCCGGCTCCAGTCGCG)
c.555_600delinsCCCGGCTCCGGCTCCGGCCCCGGCTCCAGTCGCG (p.Ala197_Pro200del)
c.522_567delinsCCCGGCTCCGGCTCCGGCCCCGGCTCCAGTCGCG (p.Ala186_Pro189del)
 ClinVar dbSNP
11g.2884890_2884938delinsTGGGGCCGGGGCCGCGACTGGAGCCGGGGCCGGAGCCGGAGCCGGAGCCCA1948368449CDKN1Cn.142+696_142+744delinsGGCTCCGGCTCCGGCTCCGGCCCCGGCTCCAGTCGCGGCCCCGGCCCCA
c.255+264_255+312delinsGGCTCCGGCTCCGGCTCCGGCCCCGGCTCCAGTCGCGGCCCCGGCCCCA (n.255+264_255+312delinsGGCTCCGGCTCCGGCTCCGGCCCCGGCTCCAGTCGCGGCCCCGGCCCCA)
c.552_600delinsGGCTCCGGCTCCGGCTCCGGCCCCGGCTCCAGTCGCGGCCCCGGCCCCA (p.Pro184=)
c.519_567delinsGGCTCCGGCTCCGGCTCCGGCCCCGGCTCCAGTCGCGGCCCCGGCCCCA (p.Pro173=)
11g.2884890_2884957delinsCGGGGCCGCA2580082657CDKN1Cn.142+677_142+744delinsCGGCCCCG
c.255+245_255+312delinsCGGCCCCG (n.255+245_255+312delinsCGGCCCCG)
c.533_600delinsCGGCCCCG (p.Leu178_Ala197del)
c.500_567delinsCGGCCCCG (p.Leu167_Ala186del)
 ClinVar
11g.2884891G>ACA379146354CDKN1Cn.142+743C>T
c.255+311C>T (n.255+311C>T)
c.599C>T (p.Pro200Leu)
c.566C>T (p.Pro189Leu)
 gnomAD v4
11g.2884891G>CCA379146356CDKN1Cn.142+743C>G
c.255+311C>G (n.255+311C>G)
c.599C>G (p.Pro200Arg)
c.566C>G (p.Pro189Arg)
 ClinVar dbSNP
11g.2884891G=CA1948368453CDKN1Cn.142+743C=
c.255+311C= (n.255+311C=)
c.599C= (p.Pro200=)
c.566C= (p.Pro189=)
11g.2884891G>TCA379146357CDKN1Cn.142+743C>A
c.255+311C>A (n.255+311C>A)
c.599C>A (p.Pro200Gln)
c.566C>A (p.Pro189Gln)
11g.2884898_2884903dupCA16613578CDKN1Cn.142+738_142+743dup
c.255+306_255+311dup (n.255+306_255+311dup)
c.594_599dup (p.Pro200_Ala201insAlaPro)
c.561_566dup (p.Pro189_Ala190insAlaPro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884892_2884903dupCA597432650CDKN1Cn.142+732_142+743dup
c.255+300_255+311dup (n.255+300_255+311dup)
c.588_599dup (p.Pro200_Ala201insAlaProAlaPro)
c.555_566dup (p.Pro189_Ala190insAlaProAlaPro)
 ClinVar gnomAD v2 gnomAD v3 gnomAD v4
11g.2884898_2884903delCA658656115CDKN1Cn.142+738_142+743del
c.255+306_255+311del (n.255+306_255+311del)
c.594_599del (p.Ala199_Pro200del)
c.561_566del (p.Ala188_Pro189del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884892_2884903delCA934495601CDKN1Cn.142+732_142+743del
c.255+300_255+311del (n.255+300_255+311del)
c.588_599del (p.Ala197_Pro200del)
c.555_566del (p.Ala186_Pro189del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884899_2884922dupCA597432651CDKN1Cn.142+720_142+743dup
c.255+288_255+311dup (n.255+288_255+311dup)
c.576_599dup (p.Pro200_Ala201insAlaProValAlaAlaProAlaPro)
c.543_566dup (p.Pro189_Ala190insAlaProValAlaAlaProAlaPro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884899_2884922delCA934495604CDKN1Cn.142+720_142+743del
c.255+288_255+311del (n.255+288_255+311del)
c.576_599del (p.Ala193_Pro200del)
c.543_566del (p.Ala182_Pro189del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884934_2884935insGGCCGGGGCCGGGGCCGCGACTGGAGCCGGGGCCGGAGCCGGAGCCGGCA2580615610CDKN1Cn.142+743_142+744insGGCCCCGGCTCCGGCTCCGGCCCCGGCTCCAGTCGCGGCCCCGGCCCC
c.255+311_255+312insGGCCCCGGCTCCGGCTCCGGCCCCGGCTCCAGTCGCGGCCCCGGCCCC (n.255+311_255+312insGGCCCCGGCTCCGGCTCCGGCCCCGGCTCCAGTCGCGGCCCCGGCCCC)
c.599_600insGGCCCCGGCTCCGGCTCCGGCCCCGGCTCCAGTCGCGGCCCCGGCCCC (p.Pro200_Ala201insAlaProAlaProAlaProAlaProAlaProValAlaAlaProAlaPro)
c.566_567insGGCCCCGGCTCCGGCTCCGGCCCCGGCTCCAGTCGCGGCCCCGGCCCC (p.Pro189_Ala190insAlaProAlaProAlaProAlaProAlaProValAlaAlaProAlaPro)
 dbSNP
11g.2884904_2884951delCA915947943CDKN1Cn.142+696_142+743del
c.255+264_255+311del (n.255+264_255+311del)
c.552_599del (p.Ala185_Pro200del)
c.519_566del (p.Ala174_Pro189del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884903_2884956dupCA2612014454CDKN1Cn.142+690_142+743dup
c.255+258_255+311dup (n.255+258_255+311dup)
c.546_599dup (p.Pro200_Ala201insAlaProAlaProAlaProAlaProAlaProAlaProValAlaAlaProAlaPro)
c.513_566dup (p.Pro189_Ala190insAlaProAlaProAlaProAlaProAlaProAlaProValAlaAlaProAlaPro)
 gnomAD v4
11g.2884903_2884956delCA2612014457CDKN1Cn.142+690_142+743del
c.255+258_255+311del (n.255+258_255+311del)
c.546_599del (p.Ala183_Pro200del)
c.513_566del (p.Ala172_Pro189del)
 gnomAD v4
11g.2884892G>ACA379146359CDKN1Cn.142+742C>T
c.255+310C>T (n.255+310C>T)
c.598C>T (p.Pro200Ser)
c.565C>T (p.Pro189Ser)
 gnomAD v4
11g.2884892G>CCA379146360CDKN1Cn.142+742C>G
c.255+310C>G (n.255+310C>G)
c.598C>G (p.Pro200Ala)
c.565C>G (p.Pro189Ala)
 gnomAD v4
11g.2884892G>TCA379146362CDKN1Cn.142+742C>A
c.255+310C>A (n.255+310C>A)
c.598C>A (p.Pro200Thr)
c.565C>A (p.Pro189Thr)
 gnomAD v4
11g.2884893G>ACA472832408CDKN1Cn.142+741C>T
c.255+309C>T (n.255+309C>T)
c.597C>T (p.Ala199=)
c.564C>T (p.Ala188=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884893G>CCA472832410CDKN1Cn.142+741C>G
c.255+309C>G (n.255+309C>G)
c.597C>G (p.Ala199=)
c.564C>G (p.Ala188=)
11g.2884893G=CA1948368455CDKN1Cn.142+741C=
c.255+309C= (n.255+309C=)
c.597C= (p.Ala199=)
c.564C= (p.Ala188=)
11g.2884893G>TCA472832411CDKN1Cn.142+741C>A
c.255+309C>A (n.255+309C>A)
c.597C>A (p.Ala199=)
c.564C>A (p.Ala188=)
 gnomAD v4
11g.2884893_2884911delinsGGCCGGGGCCGCGACTGGACA1948368454CDKN1Cn.142+723_142+741delinsTCCAGTCGCGGCCCCGGCC
c.255+291_255+309delinsTCCAGTCGCGGCCCCGGCC (n.255+291_255+309delinsTCCAGTCGCGGCCCCGGCC)
c.579_597delinsTCCAGTCGCGGCCCCGGCC (p.Ala193=)
c.546_564delinsTCCAGTCGCGGCCCCGGCC (p.Ala182=)
11g.2884894G>ACA379146366CDKN1Cn.142+740C>T
c.255+308C>T (n.255+308C>T)
c.596C>T (p.Ala199Val)
c.563C>T (p.Ala188Val)
 dbSNP gnomAD v4
11g.2884894G>CCA379146365CDKN1Cn.142+740C>G
c.255+308C>G (n.255+308C>G)
c.596C>G (p.Ala199Gly)
c.563C>G (p.Ala188Gly)
 dbSNP
11g.2884894G=CA1948368456CDKN1Cn.142+740C=
c.255+308C= (n.255+308C=)
c.596C= (p.Ala199=)
c.563C= (p.Ala188=)
11g.2884894G>TCA379146364CDKN1Cn.142+740C>A
c.255+308C>A (n.255+308C>A)
c.596C>A (p.Ala199Asp)
c.563C>A (p.Ala188Asp)
 gnomAD v4
11g.2884904_2884921dupCA2573145973CDKN1Cn.142+723_142+740dup
c.255+291_255+308dup (n.255+291_255+308dup)
c.579_596dup (p.Ala199_Pro200insProValAlaAlaProAla)
c.546_563dup (p.Ala188_Pro189insProValAlaAlaProAla)
 ClinVar dbSNP
11g.2884904_2884921delCA597432652CDKN1Cn.142+723_142+740del
c.255+291_255+308del (n.255+291_255+308del)
c.579_596del (p.Pro194_Ala199del)
c.546_563del (p.Pro183_Ala188del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884899_2884928dupCA2499220892CDKN1Cn.142+711_142+740dup
c.255+279_255+308dup (n.255+279_255+308dup)
c.567_596dup (p.Ala199_Pro200insProAlaProAlaProValAlaAlaProAla)
c.534_563dup (p.Ala188_Pro189insProAlaProAlaProValAlaAlaProAla)
 ClinVar dbSNP
11g.2884899_2884928delCA2573145974CDKN1Cn.142+711_142+740del
c.255+279_255+308del (n.255+279_255+308del)
c.567_596del (p.Pro190_Ala199del)
c.534_563del (p.Pro179_Ala188del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884895C>ACA379146370CDKN1Cn.142+739G>T
c.255+307G>T (n.255+307G>T)
c.595G>T (p.Ala199Ser)
c.562G>T (p.Ala188Ser)
 COSMIC
11g.2884895C=CA1948368457CDKN1Cn.142+739G=
c.255+307G= (n.255+307G=)
c.595G= (p.Ala199=)
c.562G= (p.Ala188=)
11g.2884895C>GCA379146367CDKN1Cn.142+739G>C
c.255+307G>C (n.255+307G>C)
c.595G>C (p.Ala199Pro)
c.562G>C (p.Ala188Pro)
11g.2884895C>TCA379146369CDKN1Cn.142+739G>A
c.255+307G>A (n.255+307G>A)
c.595G>A (p.Ala199Thr)
c.562G>A (p.Ala188Thr)
 ClinVar dbSNP gnomAD v4
11g.2884896_2884907delCA2612014479CDKN1Cn.142+728_142+739del
c.255+296_255+307del (n.255+296_255+307del)
c.584_595del (p.Val195_Pro198del)
c.551_562del (p.Val184_Pro187del)
 gnomAD v4
11g.2884896C>ACA472832420CDKN1Cn.142+738G>T
c.255+306G>T (n.255+306G>T)
c.594G>T (p.Pro198=)
c.561G>T (p.Pro187=)
 gnomAD v4
11g.2884896C=CA1948368458CDKN1Cn.142+738G=
c.255+306G= (n.255+306G=)
c.594G= (p.Pro198=)
c.561G= (p.Pro187=)
11g.2884896C>GCA472832422CDKN1Cn.142+738G>C
c.255+306G>C (n.255+306G>C)
c.594G>C (p.Pro198=)
c.561G>C (p.Pro187=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884896C>TCA472832425CDKN1Cn.142+738G>A
c.255+306G>A (n.255+306G>A)
c.594G>A (p.Pro198=)
c.561G>A (p.Pro187=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884897G>ACA379146372CDKN1Cn.142+737C>T
c.255+305C>T (n.255+305C>T)
c.593C>T (p.Pro198Leu)
c.560C>T (p.Pro187Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884897G>CCA216367277CDKN1Cn.142+737C>G
c.255+305C>G (n.255+305C>G)
c.593C>G (p.Pro198Arg)
c.560C>G (p.Pro187Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884897G=CA1948368460CDKN1Cn.142+737C=
c.255+305C= (n.255+305C=)
c.593C= (p.Pro198=)
c.560C= (p.Pro187=)
11g.2884897G>TCA379146374CDKN1Cn.142+737C>A
c.255+305C>A (n.255+305C>A)
c.593C>A (p.Pro198Gln)
c.560C>A (p.Pro187Gln)
11g.2884900delCA2612014495CDKN1Cn.142+737del
c.255+305del (n.255+305del)
c.593del (p.Pro198ArgfsTer?)
c.560del (p.Pro187ArgfsTer?)
 gnomAD v4
11g.2884901_2884902insTGGGGCCA1948368459CDKN1Cn.142+737_142+738insAGCCCC
c.255+305_255+306insAGCCCC (n.255+305_255+306insAGCCCC)
c.593_594insAGCCCC (p.Pro198_Ala199insAlaPro)
c.560_561insAGCCCC (p.Pro187_Ala188insAlaPro)
 dbSNP gnomAD v4
11g.2884899_2884910delCA2612014491CDKN1Cn.142+726_142+737del
c.255+294_255+305del (n.255+294_255+305del)
c.582_593del (p.Val195_Pro198del)
c.549_560del (p.Val184_Pro187del)
 gnomAD v4
11g.2884898G>ACA379146377CDKN1Cn.142+736C>T
c.255+304C>T (n.255+304C>T)
c.592C>T (p.Pro198Ser)
c.559C>T (p.Pro187Ser)
 ClinVar gnomAD v4
11g.2884898G>CCA379146378CDKN1Cn.142+736C>G
c.255+304C>G (n.255+304C>G)
c.592C>G (p.Pro198Ala)
c.559C>G (p.Pro187Ala)
11g.2884898G>TCA379146380CDKN1Cn.142+736C>A
c.255+304C>A (n.255+304C>A)
c.592C>A (p.Pro198Thr)
c.559C>A (p.Pro187Thr)
11g.2884899G>ACA472832435CDKN1Cn.142+735C>T
c.255+303C>T (n.255+303C>T)
c.591C>T (p.Ala197=)
c.558C>T (p.Ala186=)
 ClinVar dbSNP gnomAD v4
11g.2884899G>CCA472832436CDKN1Cn.142+735C>G
c.255+303C>G (n.255+303C>G)
c.591C>G (p.Ala197=)
c.558C>G (p.Ala186=)
11g.2884899G=CA1948368461CDKN1Cn.142+735C=
c.255+303C= (n.255+303C=)
c.591C= (p.Ala197=)
c.558C= (p.Ala186=)
11g.2884899G>TCA472832439CDKN1Cn.142+735C>A
c.255+303C>A (n.255+303C>A)
c.591C>A (p.Ala197=)
c.558C>A (p.Ala186=)
 dbSNP gnomAD v3 gnomAD v4
11g.2884900_2884905dupCA2790205483CDKN1Cn.142+730_142+735dup
c.255+298_255+303dup (n.255+298_255+303dup)
c.586_591dup (p.Ala197_Pro198insAlaAla)
c.553_558dup (p.Ala186_Pro187insAlaAla)
11g.2884899_2884906delCA2612014501CDKN1Cn.142+728_142+735del
c.255+296_255+303del (n.255+296_255+303del)
c.584_591del (p.Val195AlafsTer?)
c.551_558del (p.Val184AlafsTer?)
 gnomAD v4
11g.2884900G>ACA379146382CDKN1Cn.142+734C>T
c.255+302C>T (n.255+302C>T)
c.590C>T (p.Ala197Val)
c.557C>T (p.Ala186Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884900G>CCA379146384CDKN1Cn.142+734C>G
c.255+302C>G (n.255+302C>G)
c.590C>G (p.Ala197Gly)
c.557C>G (p.Ala186Gly)
 gnomAD v4
11g.2884900G=CA1948368462CDKN1Cn.142+734C=
c.255+302C= (n.255+302C=)
c.590C= (p.Ala197=)
c.557C= (p.Ala186=)
11g.2884900G>TCA379146385CDKN1Cn.142+734C>A
c.255+302C>A (n.255+302C>A)
c.590C>A (p.Ala197Asp)
c.557C>A (p.Ala186Asp)
 gnomAD v4
11g.2884904_2884915delCA2499220893CDKN1Cn.142+723_142+734del
c.255+291_255+302del (n.255+291_255+302del)
c.579_590del (p.Pro194_Ala197del)
c.546_557del (p.Pro183_Ala186del)
 ClinVar dbSNP gnomAD v4
11g.2884904_2884927delCA2499220894CDKN1Cn.142+711_142+734del
c.255+279_255+302del (n.255+279_255+302del)
c.567_590del (p.Pro190_Ala197del)
c.534_557del (p.Pro179_Ala186del)
 ClinVar dbSNP
11g.2884901C>ACA379146390CDKN1Cn.142+733G>T
c.255+301G>T (n.255+301G>T)
c.589G>T (p.Ala197Ser)
c.556G>T (p.Ala186Ser)
 ClinVar dbSNP gnomAD v4
11g.2884901C>GCA379146388CDKN1Cn.142+733G>C
c.255+301G>C (n.255+301G>C)
c.589G>C (p.Ala197Pro)
c.556G>C (p.Ala186Pro)
 gnomAD v4
11g.2884901C>TCA379146387CDKN1Cn.142+733G>A
c.255+301G>A (n.255+301G>A)
c.589G>A (p.Ala197Thr)
c.556G>A (p.Ala186Thr)
 gnomAD v4
11g.2884903_2884904insGGGCCAGGACCGCGACCGCA2499220895CDKN1Cn.142+733_142+734insTCGCGGTCCTGGCCCCGG
c.255+301_255+302insTCGCGGTCCTGGCCCCGG (n.255+301_255+302insTCGCGGTCCTGGCCCCGG)
c.589_590insTCGCGGTCCTGGCCCCGG (p.Ala196_Ala197insValAlaValLeuAlaPro)
c.556_557insTCGCGGTCCTGGCCCCGG (p.Ala185_Ala186insValAlaValLeuAlaPro)
 ClinVar dbSNP
11g.2884902_2884907dupCA675284409CDKN1Cn.142+728_142+733dup
c.255+296_255+301dup (n.255+296_255+301dup)
c.584_589dup (p.Ala196_Ala197insValAla)
c.551_556dup (p.Ala185_Ala186insValAla)
 dbSNP gnomAD v4
11g.2884902_2884907delCA2612014512CDKN1Cn.142+728_142+733del
c.255+296_255+301del (n.255+296_255+301del)
c.584_589del (p.Val195_Ala196del)
c.551_556del (p.Val184_Ala185del)
 gnomAD v4
11g.2884902C>ACA472832447CDKN1Cn.142+732G>T
c.255+300G>T (n.255+300G>T)
c.588G>T (p.Ala196=)
c.555G>T (p.Ala185=)
 ClinVar dbSNP gnomAD v4
11g.2884902C=CA1948368463CDKN1Cn.142+732G=
c.255+300G= (n.255+300G=)
c.588G= (p.Ala196=)
c.555G= (p.Ala185=)
11g.2884902C>GCA472832451CDKN1Cn.142+732G>C
c.255+300G>C (n.255+300G>C)
c.588G>C (p.Ala196=)
c.555G>C (p.Ala185=)
 ClinVar
11g.2884902C>TCA10582900CDKN1Cn.142+732G>A
c.255+300G>A (n.255+300G>A)
c.588G>A (p.Ala196=)
c.555G>A (p.Ala185=)
 ClinVar dbSNP gnomAD v4
11g.2884902_2884908delinsCGCGACTCA1948368464CDKN1Cn.142+726_142+732delinsAGTCGCG
c.255+294_255+300delinsAGTCGCG (n.255+294_255+300delinsAGTCGCG)
c.582_588delinsAGTCGCG (p.Pro194=)
c.549_555delinsAGTCGCG (p.Pro183=)
11g.2884903G>ACA379146392CDKN1Cn.142+731C>T
c.255+299C>T (n.255+299C>T)
c.587C>T (p.Ala196Val)
c.554C>T (p.Ala185Val)
 gnomAD v4
11g.2884903G>CCA379146394CDKN1Cn.142+731C>G
c.255+299C>G (n.255+299C>G)
c.587C>G (p.Ala196Gly)
c.554C>G (p.Ala185Gly)
 gnomAD v4
11g.2884903G>TCA379146395CDKN1Cn.142+731C>A
c.255+299C>A (n.255+299C>A)
c.587C>A (p.Ala196Glu)
c.554C>A (p.Ala185Glu)
 gnomAD v4
11g.2884903_2884904delinsAACA915947944CDKN1Cn.142+730_142+731delinsTT
c.255+298_255+299delinsTT (n.255+298_255+299delinsTT)
c.586_587delinsTT (p.Ala196Leu)
c.553_554delinsTT (p.Ala185Leu)
 ClinVar dbSNP
11g.2884903_2884904delinsGCCA1948368466CDKN1Cn.142+730_142+731delinsGC
c.255+298_255+299delinsGC (n.255+298_255+299delinsGC)
c.586_587delinsGC (p.Ala196=)
c.553_554delinsGC (p.Ala185=)
11g.2884903_2884908delinsGCGACTCA1948368467CDKN1Cn.142+726_142+731delinsAGTCGC
c.255+294_255+299delinsAGTCGC (n.255+294_255+299delinsAGTCGC)
c.582_587delinsAGTCGC (p.Pro194=)
c.549_554delinsAGTCGC (p.Pro183=)
11g.2884904_2884909delCA1948368465CDKN1Cn.142+726_142+731del
c.255+294_255+299del (n.255+294_255+299del)
c.582_587del (p.Val195_Ala196del)
c.549_554del (p.Val184_Ala185del)
 ClinVar dbSNP gnomAD v4
11g.2884904C>ACA379146397CDKN1Cn.142+730G>T
c.255+298G>T (n.255+298G>T)
c.586G>T (p.Ala196Ser)
c.553G>T (p.Ala185Ser)
 gnomAD v4
11g.2884904C=CA1948368468CDKN1Cn.142+730G=
c.255+298G= (n.255+298G=)
c.586G= (p.Ala196=)
c.553G= (p.Ala185=)
11g.2884904C>GCA379146399CDKN1Cn.142+730G>C
c.255+298G>C (n.255+298G>C)
c.586G>C (p.Ala196Pro)
c.553G>C (p.Ala185Pro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884904C>TCA379146400CDKN1Cn.142+730G>A
c.255+298G>A (n.255+298G>A)
c.586G>A (p.Ala196Thr)
c.553G>A (p.Ala185Thr)
 gnomAD v4
11g.2884904_2884908delCA934495620CDKN1Cn.142+726_142+730del
c.255+294_255+298del (n.255+294_255+298del)
c.582_586del (p.Val195GlyfsTer?)
c.549_553del (p.Val184GlyfsTer?)
 dbSNP gnomAD v3 gnomAD v4
11g.2884904_2884957delCA2612014553CDKN1Cn.142+677_142+730del
c.255+245_255+298del (n.255+245_255+298del)
c.533_586del (p.Leu178_Ala196delinsPro)
c.500_553del (p.Leu167_Ala185delinsPro)
 gnomAD v4
11g.2884905G>ACA472832461CDKN1Cn.142+729C>T
c.255+297C>T (n.255+297C>T)
c.585C>T (p.Val195=)
c.552C>T (p.Val184=)
 ClinVar dbSNP gnomAD v4
11g.2884905G>CCA472832462CDKN1Cn.142+729C>G
c.255+297C>G (n.255+297C>G)
c.585C>G (p.Val195=)
c.552C>G (p.Val184=)
 ClinVar
11g.2884905G=CA1948368469CDKN1Cn.142+729C=
c.255+297C= (n.255+297C=)
c.585C= (p.Val195=)
c.552C= (p.Val184=)
11g.2884905G>TCA472832465CDKN1Cn.142+729C>A
c.255+297C>A (n.255+297C>A)
c.585C>A (p.Val195=)
c.552C>A (p.Val184=)
 gnomAD v4
11g.2884911_2885042delCA2499220896CDKN1Cn.142+598_142+729del
c.255+166_255+297del (n.255+166_255+297del)
c.454_585del (p.Pro152_Val195del)
c.421_552del (p.Pro141_Val184del)
 ClinVar dbSNP
11g.2884906A=CA1948368470CDKN1Cn.142+728T=
c.255+296T= (n.255+296T=)
c.584T= (p.Val195=)
c.551T= (p.Val184=)
11g.2884906A>CCA379146402CDKN1Cn.142+728T>G
c.255+296T>G (n.255+296T>G)
c.584T>G (p.Val195Gly)
c.551T>G (p.Val184Gly)
 ClinVar dbSNP gnomAD v4
11g.2884906A>GCA379146404CDKN1Cn.142+728T>C
c.255+296T>C (n.255+296T>C)
c.584T>C (p.Val195Ala)
c.551T>C (p.Val184Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884906A>TCA379146405CDKN1Cn.142+728T>A
c.255+296T>A (n.255+296T>A)
c.584T>A (p.Val195Asp)
c.551T>A (p.Val184Asp)
 gnomAD v4
11g.2884906_2884907insGCA2573145975CDKN1Cn.142+727_142+728insC
c.255+295_255+296insC (n.255+295_255+296insC)
c.583_584insC (p.Val195AlafsTer?)
c.550_551insC (p.Val184AlafsTer?)
 dbSNP
11g.2884907C>ACA379146407CDKN1Cn.142+727G>T
c.255+295G>T (n.255+295G>T)
c.583G>T (p.Val195Phe)
c.550G>T (p.Val184Phe)
 gnomAD v4
11g.2884907C>GCA379146409CDKN1Cn.142+727G>C
c.255+295G>C (n.255+295G>C)
c.583G>C (p.Val195Leu)
c.550G>C (p.Val184Leu)
11g.2884907C>TCA379146410CDKN1Cn.142+727G>A
c.255+295G>A (n.255+295G>A)
c.583G>A (p.Val195Ile)
c.550G>A (p.Val184Ile)
 gnomAD v4
11g.2884908T>ACA472832475CDKN1Cn.142+726A>T
c.255+294A>T (n.255+294A>T)
c.582A>T (p.Pro194=)
c.549A>T (p.Pro183=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884908T>CCA472832477CDKN1Cn.142+726A>G
c.255+294A>G (n.255+294A>G)
c.582A>G (p.Pro194=)
c.549A>G (p.Pro183=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884908T>GCA472832478CDKN1Cn.142+726A>C
c.255+294A>C (n.255+294A>C)
c.582A>C (p.Pro194=)
c.549A>C (p.Pro183=)
 gnomAD v3 gnomAD v4
11g.2884908T=CA1948368473CDKN1Cn.142+726A=
c.255+294A= (n.255+294A=)
c.582A= (p.Pro194=)
c.549A= (p.Pro183=)
11g.2884908_2884920delinsTGGAGCCGGGGCCCA1948368472CDKN1Cn.142+714_142+726delinsGGCCCCGGCTCCA
c.255+282_255+294delinsGGCCCCGGCTCCA (n.255+282_255+294delinsGGCCCCGGCTCCA)
c.570_582delinsGGCCCCGGCTCCA (p.Pro190=)
c.537_549delinsGGCCCCGGCTCCA (p.Pro179=)
11g.2884908_2884926delinsTGGAGCCGGGGCCGGAGCCCA1948368474CDKN1Cn.142+708_142+726delinsGGCTCCGGCCCCGGCTCCA
c.255+276_255+294delinsGGCTCCGGCCCCGGCTCCA (n.255+276_255+294delinsGGCTCCGGCCCCGGCTCCA)
c.564_582delinsGGCTCCGGCCCCGGCTCCA (p.Pro188=)
c.531_549delinsGGCTCCGGCCCCGGCTCCA (p.Pro177=)
11g.2884908_2884932delinsTGGAGCCGGGGCCGGAGCCGGAGCCCA1948368471CDKN1Cn.142+702_142+726delinsGGCTCCGGCTCCGGCCCCGGCTCCA
c.255+270_255+294delinsGGCTCCGGCTCCGGCCCCGGCTCCA (n.255+270_255+294delinsGGCTCCGGCTCCGGCCCCGGCTCCA)
c.558_582delinsGGCTCCGGCTCCGGCCCCGGCTCCA (p.Pro186=)
c.525_549delinsGGCTCCGGCTCCGGCCCCGGCTCCA (p.Pro175=)
11g.2884909G>ACA379146415CDKN1Cn.142+725C>T
c.255+293C>T (n.255+293C>T)
c.581C>T (p.Pro194Leu)
c.548C>T (p.Pro183Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884909G>CCA379146417CDKN1Cn.142+725C>G
c.255+293C>G (n.255+293C>G)
c.581C>G (p.Pro194Arg)
c.548C>G (p.Pro183Arg)
11g.2884909G=CA1948368475CDKN1Cn.142+725C=
c.255+293C= (n.255+293C=)
c.581C= (p.Pro194=)
c.548C= (p.Pro183=)
11g.2884909G>TCA379146412CDKN1Cn.142+725C>A
c.255+293C>A (n.255+293C>A)
c.581C>A (p.Pro194Gln)
c.548C>A (p.Pro183Gln)
 gnomAD v4
11g.2884911_2884916dupCA2612014588CDKN1Cn.142+720_142+725dup
c.255+288_255+293dup (n.255+288_255+293dup)
c.576_581dup (p.Pro194_Val195insAlaPro)
c.543_548dup (p.Pro183_Val184insAlaPro)
 gnomAD v4
11g.2884917_2884928dupCA16613295CDKN1Cn.142+714_142+725dup
c.255+282_255+293dup (n.255+282_255+293dup)
c.570_581dup (p.Pro194_Val195insAlaProAlaPro)
c.537_548dup (p.Pro183_Val184insAlaProAlaPro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884917_2884928delCA216367283CDKN1Cn.142+714_142+725del
c.255+282_255+293del (n.255+282_255+293del)
c.570_581del (p.Ala191_Pro194del)
c.537_548del (p.Ala180_Pro183del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884917_2884934dupCA915947945CDKN1Cn.142+708_142+725dup
c.255+276_255+293dup (n.255+276_255+293dup)
c.564_581dup (p.Pro194_Val195insAlaProAlaProAlaPro)
c.531_548dup (p.Pro183_Val184insAlaProAlaProAlaPro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884917_2884934delCA915947946CDKN1Cn.142+708_142+725del
c.255+276_255+293del (n.255+276_255+293del)
c.564_581del (p.Ala189_Pro194del)
c.531_548del (p.Ala178_Pro183del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884923_2884946dupCA658797577CDKN1Cn.142+702_142+725dup
c.255+270_255+293dup (n.255+270_255+293dup)
c.558_581dup (p.Pro194_Val195insAlaProAlaProAlaProAlaPro)
c.525_548dup (p.Pro183_Val184insAlaProAlaProAlaProAlaPro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884923_2884946delCA10582901CDKN1Cn.142+702_142+725del
c.255+270_255+293del (n.255+270_255+293del)
c.558_581del (p.Ala187_Pro194del)
c.525_548del (p.Ala176_Pro183del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884923_2885018delCA2612014584CDKN1Cn.142+630_142+725del
c.255+198_255+293del (n.255+198_255+293del)
c.486_581del (p.Ala163_Pro194del)
c.453_548del (p.Ala152_Pro183del)
 gnomAD v4
11g.2884910G>ACA379146418CDKN1Cn.142+724C>T
c.255+292C>T (n.255+292C>T)
c.580C>T (p.Pro194Ser)
c.547C>T (p.Pro183Ser)
 dbSNP
11g.2884910G>CCA379146419CDKN1Cn.142+724C>G
c.255+292C>G (n.255+292C>G)
c.580C>G (p.Pro194Ala)
c.547C>G (p.Pro183Ala)
11g.2884910G>TCA379146421CDKN1Cn.142+724C>A
c.255+292C>A (n.255+292C>A)
c.580C>A (p.Pro194Thr)
c.547C>A (p.Pro183Thr)
11g.2884910_2884911delinsGACA1948368476CDKN1Cn.142+723_142+724delinsTC
c.255+291_255+292delinsTC (n.255+291_255+292delinsTC)
c.579_580delinsTC (p.Ala193=)
c.546_547delinsTC (p.Ala182=)
11g.2884911delCA916081625CDKN1Cn.142+723del
c.255+291del (n.255+291del)
c.579del (p.Pro194GlnfsTer?)
c.546del (p.Pro183GlnfsTer?)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884911A=CA1948368477CDKN1Cn.142+723T=
c.255+291T= (n.255+291T=)
c.579T= (p.Ala193=)
c.546T= (p.Ala182=)
11g.2884911A>CCA472832493CDKN1Cn.142+723T>G
c.255+291T>G (n.255+291T>G)
c.579T>G (p.Ala193=)
c.546T>G (p.Ala182=)
 gnomAD v4
11g.2884911A>GCA472832496CDKN1Cn.142+723T>C
c.255+291T>C (n.255+291T>C)
c.579T>C (p.Ala193=)
c.546T>C (p.Ala182=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884911A>TCA472832491CDKN1Cn.142+723T>A
c.255+291T>A (n.255+291T>A)
c.579T>A (p.Ala193=)
c.546T>A (p.Ala182=)
 gnomAD v4
11g.2884911_2884941delinsAGCCGGGGCCGGAGCCGGAGCCGGAGCCGGGCA1948368478CDKN1Cn.142+693_142+723delinsCCCGGCTCCGGCTCCGGCTCCGGCCCCGGCT
c.255+261_255+291delinsCCCGGCTCCGGCTCCGGCTCCGGCCCCGGCT (n.255+261_255+291delinsCCCGGCTCCGGCTCCGGCTCCGGCCCCGGCT)
c.549_579delinsCCCGGCTCCGGCTCCGGCTCCGGCCCCGGCT (p.Ala183=)
c.516_546delinsCCCGGCTCCGGCTCCGGCTCCGGCCCCGGCT (p.Ala172=)
11g.2884912G>ACA379146423CDKN1Cn.142+722C>T
c.255+290C>T (n.255+290C>T)
c.578C>T (p.Ala193Val)
c.545C>T (p.Ala182Val)
11g.2884912G>CCA379146425CDKN1Cn.142+722C>G
c.255+290C>G (n.255+290C>G)
c.578C>G (p.Ala193Gly)
c.545C>G (p.Ala182Gly)
11g.2884912G>TCA379146426CDKN1Cn.142+722C>A
c.255+290C>A (n.255+290C>A)
c.578C>A (p.Ala193Asp)
c.545C>A (p.Ala182Asp)
 gnomAD v4
11g.2884917_2884922dupCA658656116CDKN1Cn.142+717_142+722dup
c.255+285_255+290dup (n.255+285_255+290dup)
c.573_578dup (p.Ala193_Pro194insProAla)
c.540_545dup (p.Ala182_Pro183insProAla)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884917_2884922delCA2612014618CDKN1Cn.142+717_142+722del
c.255+285_255+290del (n.255+285_255+290del)
c.573_578del (p.Pro192_Ala193del)
c.540_545del (p.Pro181_Ala182del)
 gnomAD v4
11g.2884934_2884935insGGCCGGGGCCGGGGCCGGAGCCGGAGCCGGCA2580082664CDKN1Cn.142+722_142+723insCCCGGCCCCGGCTCCGGCTCCGGCCCCGGC
c.255+290_255+291insCCCGGCCCCGGCTCCGGCTCCGGCCCCGGC (n.255+290_255+291insCCCGGCCCCGGCTCCGGCTCCGGCCCCGGC)
c.578_579insCCCGGCCCCGGCTCCGGCTCCGGCCCCGGC (p.Ala193_Pro194insProAlaProAlaProAlaProAlaProAla)
c.545_546insCCCGGCCCCGGCTCCGGCTCCGGCCCCGGC (p.Ala182_Pro183insProAlaProAlaProAlaProAlaProAla)
 ClinVar
11g.2884923_2884952dupCA2580082665CDKN1Cn.142+693_142+722dup
c.255+261_255+290dup (n.255+261_255+290dup)
c.549_578dup (p.Ala193_Pro194insProAlaProAlaProAlaProAlaProAla)
c.516_545dup (p.Ala182_Pro183insProAlaProAlaProAlaProAlaProAla)
 ClinVar
11g.2884923_2884952delCA1948368479CDKN1Cn.142+693_142+722del
c.255+261_255+290del (n.255+261_255+290del)
c.549_578del (p.Pro184_Ala193del)
c.516_545del (p.Pro173_Ala182del)
 ClinVar dbSNP gnomAD v4
11g.2884921_2884956dupCA2739276083CDKN1Cn.142+687_142+722dup
c.255+255_255+290dup (n.255+255_255+290dup)
c.543_578dup (p.Ala193_Pro194insProAlaProAlaProAlaProAlaProAlaProAla)
c.510_545dup (p.Ala182_Pro183insProAlaProAlaProAlaProAlaProAlaProAla)
 ClinVar
11g.2884921_2884956delCA2612014619CDKN1Cn.142+687_142+722del
c.255+255_255+290del (n.255+255_255+290del)
c.543_578del (p.Pro182_Ala193del)
c.510_545del (p.Pro171_Ala182del)
 gnomAD v4
11g.2884913C>ACA379146432CDKN1Cn.142+721G>T
c.255+289G>T (n.255+289G>T)
c.577G>T (p.Ala193Ser)
c.544G>T (p.Ala182Ser)
 ClinVar dbSNP gnomAD v4
11g.2884913C=CA1948368480CDKN1Cn.142+721G=
c.255+289G= (n.255+289G=)
c.577G= (p.Ala193=)
c.544G= (p.Ala182=)
11g.2884913C>GCA379146428CDKN1Cn.142+721G>C
c.255+289G>C (n.255+289G>C)
c.577G>C (p.Ala193Pro)
c.544G>C (p.Ala182Pro)
 gnomAD v4
11g.2884913C>TCA379146430CDKN1Cn.142+721G>A
c.255+289G>A (n.255+289G>A)
c.577G>A (p.Ala193Thr)
c.544G>A (p.Ala182Thr)
 gnomAD v4
11g.2884914C>ACA472832508CDKN1Cn.142+720G>T
c.255+288G>T (n.255+288G>T)
c.576G>T (p.Pro192=)
c.543G>T (p.Pro181=)
 gnomAD v4
11g.2884914C>GCA472832507CDKN1Cn.142+720G>C
c.255+288G>C (n.255+288G>C)
c.576G>C (p.Pro192=)
c.543G>C (p.Pro181=)
 dbSNP gnomAD v4
11g.2884914C>TCA472832505CDKN1Cn.142+720G>A
c.255+288G>A (n.255+288G>A)
c.576G>A (p.Pro192=)
c.543G>A (p.Pro181=)
 ClinVar dbSNP gnomAD v4
11g.2884915G>ACA379146433CDKN1Cn.142+719C>T
c.255+287C>T (n.255+287C>T)
c.575C>T (p.Pro192Leu)
c.542C>T (p.Pro181Leu)
 gnomAD v4
11g.2884915G>CCA379146434CDKN1Cn.142+719C>G
c.255+287C>G (n.255+287C>G)
c.575C>G (p.Pro192Arg)
c.542C>G (p.Pro181Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884915G=CA1948368481CDKN1Cn.142+719C=
c.255+287C= (n.255+287C=)
c.575C= (p.Pro192=)
c.542C= (p.Pro181=)
11g.2884915G>TCA379146435CDKN1Cn.142+719C>A
c.255+287C>A (n.255+287C>A)
c.575C>A (p.Pro192Gln)
c.542C>A (p.Pro181Gln)
11g.2884918delCA2739276084CDKN1Cn.142+719del
c.255+287del (n.255+287del)
c.575del (p.Pro192ArgfsTer?)
c.542del (p.Pro181ArgfsTer?)
 ClinVar
11g.2884916G>ACA379146436CDKN1Cn.142+718C>T
c.255+286C>T (n.255+286C>T)
c.574C>T (p.Pro192Ser)
c.541C>T (p.Pro181Ser)
 ClinVar gnomAD v4
11g.2884916G>CCA379146437CDKN1Cn.142+718C>G
c.255+286C>G (n.255+286C>G)
c.574C>G (p.Pro192Ala)
c.541C>G (p.Pro181Ala)
 dbSNP gnomAD v4
11g.2884916G=CA1948368482CDKN1Cn.142+718C=
c.255+286C= (n.255+286C=)
c.574C= (p.Pro192=)
c.541C= (p.Pro181=)
11g.2884916G>TCA379146438CDKN1Cn.142+718C>A
c.255+286C>A (n.255+286C>A)
c.574C>A (p.Pro192Thr)
c.541C>A (p.Pro181Thr)
 gnomAD v4
11g.2884917G>ACA472832518CDKN1Cn.142+717C>T
c.255+285C>T (n.255+285C>T)
c.573C>T (p.Ala191=)
c.540C>T (p.Ala180=)
 ClinVar dbSNP gnomAD v4
11g.2884917G>CCA472832523CDKN1Cn.142+717C>G
c.255+285C>G (n.255+285C>G)
c.573C>G (p.Ala191=)
c.540C>G (p.Ala180=)
11g.2884917G=CA1948368483CDKN1Cn.142+717C=
c.255+285C= (n.255+285C=)
c.573C= (p.Ala191=)
c.540C= (p.Ala180=)
11g.2884917G>TCA472832521CDKN1Cn.142+717C>A
c.255+285C>A (n.255+285C>A)
c.573C>A (p.Ala191=)
c.540C>A (p.Ala180=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884917_2884918insACGGAGCA916084229CDKN1Cn.142+717_142+718insTCCGTC
c.255+285_255+286insTCCGTC (n.255+285_255+286insTCCGTC)
c.573_574insTCCGTC (p.Ala191_Pro192insSerVal)
c.540_541insTCCGTC (p.Ala180_Pro181insSerVal)
11g.2884917_2884935delinsGGCCGGAGCCGGAGCCGGACA1948368484CDKN1Cn.142+699_142+717delinsTCCGGCTCCGGCTCCGGCC
c.255+267_255+285delinsTCCGGCTCCGGCTCCGGCC (n.255+267_255+285delinsTCCGGCTCCGGCTCCGGCC)
c.555_573delinsTCCGGCTCCGGCTCCGGCC (p.Ala185=)
c.522_540delinsTCCGGCTCCGGCTCCGGCC (p.Ala174=)
11g.2884918G>ACA379146439CDKN1Cn.142+716C>T
c.255+284C>T (n.255+284C>T)
c.572C>T (p.Ala191Val)
c.539C>T (p.Ala180Val)
 ClinVar dbSNP gnomAD v4
11g.2884918G>CCA379146441CDKN1Cn.142+716C>G
c.255+284C>G (n.255+284C>G)
c.572C>G (p.Ala191Gly)
c.539C>G (p.Ala180Gly)
 gnomAD v4
11g.2884918G>TCA379146440CDKN1Cn.142+716C>A
c.255+284C>A (n.255+284C>A)
c.572C>A (p.Ala191Asp)
c.539C>A (p.Ala180Asp)
 gnomAD v4
11g.2884918_2884919insACGGAGCA915947947CDKN1Cn.142+716_142+717insTCCGTC
c.255+284_255+285insTCCGTC (n.255+284_255+285insTCCGTC)
c.572_573insTCCGTC (p.Ala191_Pro192insProSer)
c.539_540insTCCGTC (p.Ala180_Pro181insProSer)
 ClinVar dbSNP
11g.2884921_2884922insCGACTGGAGCCGGTGCCGCA2723232262CDKN1Cn.142+716_142+717insACCGGCTCCAGTCGCGGC
c.255+284_255+285insACCGGCTCCAGTCGCGGC (n.255+284_255+285insACCGGCTCCAGTCGCGGC)
c.572_573insACCGGCTCCAGTCGCGGC (p.Ala191_Pro192insProAlaProValAlaAla)
c.539_540insACCGGCTCCAGTCGCGGC (p.Ala180_Pro181insProAlaProValAlaAla)
 dbSNP
11g.2884935_2884940dupCA597432653CDKN1Cn.142+711_142+716dup
c.255+279_255+284dup (n.255+279_255+284dup)
c.567_572dup (p.Ala191_Pro192insProAla)
c.534_539dup (p.Ala180_Pro181insProAla)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884929_2884940dupCA2580615611CDKN1Cn.142+705_142+716dup
c.255+273_255+284dup (n.255+273_255+284dup)
c.561_572dup (p.Ala191_Pro192insProAlaProAla)
c.528_539dup (p.Ala180_Pro181insProAlaProAla)
 ClinVar dbSNP gnomAD v4
11g.2884923_2884940dupCA2580615612CDKN1Cn.142+699_142+716dup
c.255+267_255+284dup (n.255+267_255+284dup)
c.555_572dup (p.Ala191_Pro192insProAlaProAlaProAla)
c.522_539dup (p.Ala180_Pro181insProAlaProAlaProAla)
 ClinVar dbSNP
11g.2884935_2884940delCA10582902CDKN1Cn.142+711_142+716del
c.255+279_255+284del (n.255+279_255+284del)
c.567_572del (p.Pro190_Ala191del)
c.534_539del (p.Pro179_Ala180del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884929_2884940delCA675284505CDKN1Cn.142+705_142+716del
c.255+273_255+284del (n.255+273_255+284del)
c.561_572del (p.Pro188_Ala191del)
c.528_539del (p.Pro177_Ala180del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884923_2884940delCA216367293CDKN1Cn.142+699_142+716del
c.255+267_255+284del (n.255+267_255+284del)
c.555_572del (p.Pro186_Ala191del)
c.522_539del (p.Pro175_Ala180del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884919C>ACA16613296CDKN1Cn.142+715G>T
c.255+283G>T (n.255+283G>T)
c.571G>T (p.Ala191Ser)
c.538G>T (p.Ala180Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2884919C=CA1948368485CDKN1Cn.142+715G=
c.255+283G= (n.255+283G=)
c.571G= (p.Ala191=)
c.538G= (p.Ala180=)
11g.2884919C>GCA379146442CDKN1Cn.142+715G>C
c.255+283G>C (n.255+283G>C)
c.571G>C (p.Ala191Pro)
c.538G>C (p.Ala180Pro)
11g.2884919C>TCA379146443CDKN1Cn.142+715G>A
c.255+283G>A (n.255+283G>A)
c.571G>A (p.Ala191Thr)
c.538G>A (p.Ala180Thr)
 gnomAD v4
11g.2884928_2884993delCA2573145976CDKN1Cn.142+650_142+715del
c.255+218_255+283del (n.255+218_255+283del)
c.506_571del (p.Val169_Pro190del)
c.473_538del (p.Val158_Pro179del)
 ClinVar dbSNP gnomAD v4
11g.2884935_2885012delCA934495642CDKN1Cn.142+638_142+715del
c.255+206_255+283del (n.255+206_255+283del)
c.494_571del (p.Val165_Pro190del)
c.461_538del (p.Val154_Pro179del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884920C>ACA472832535CDKN1Cn.142+714G>T
c.255+282G>T (n.255+282G>T)
c.570G>T (p.Pro190=)
c.537G>T (p.Pro179=)
 gnomAD v4
11g.2884920C=CA1948368486CDKN1Cn.142+714G=
c.255+282G= (n.255+282G=)
c.570G= (p.Pro190=)
c.537G= (p.Pro179=)
11g.2884920C>GCA16613344CDKN1Cn.142+714G>C
c.255+282G>C (n.255+282G>C)
c.570G>C (p.Pro190=)
c.537G>C (p.Pro179=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884920C>TCA216367295CDKN1Cn.142+714G>A
c.255+282G>A (n.255+282G>A)
c.570G>A (p.Pro190=)
c.537G>A (p.Pro179=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884921G>ACA379146444CDKN1Cn.142+713C>T
c.255+281C>T (n.255+281C>T)
c.569C>T (p.Pro190Leu)
c.536C>T (p.Pro179Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884921G>CCA379146445CDKN1Cn.142+713C>G
c.255+281C>G (n.255+281C>G)
c.569C>G (p.Pro190Arg)
c.536C>G (p.Pro179Arg)
11g.2884921G=CA1948368487CDKN1Cn.142+713C=
c.255+281C= (n.255+281C=)
c.569C= (p.Pro190=)
c.536C= (p.Pro179=)
11g.2884921G>TCA379146446CDKN1Cn.142+713C>A
c.255+281C>A (n.255+281C>A)
c.569C>A (p.Pro190Gln)
c.536C>A (p.Pro179Gln)
 gnomAD v4
11g.2884921_2884922insCGACTGCA934495644CDKN1Cn.142+713_142+714insAGTCGC
c.255+281_255+282insAGTCGC (n.255+281_255+282insAGTCGC)
c.569_570insAGTCGC (p.Pro190_Ala191insValAla)
c.536_537insAGTCGC (p.Pro179_Ala180insValAla)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884922G>ACA379146447CDKN1Cn.142+712C>T
c.255+280C>T (n.255+280C>T)
c.568C>T (p.Pro190Ser)
c.535C>T (p.Pro179Ser)
11g.2884922G>CCA379146448CDKN1Cn.142+712C>G
c.255+280C>G (n.255+280C>G)
c.568C>G (p.Pro190Ala)
c.535C>G (p.Pro179Ala)
11g.2884922G>TCA379146449CDKN1Cn.142+712C>A
c.255+280C>A (n.255+280C>A)
c.568C>A (p.Pro190Thr)
c.535C>A (p.Pro179Thr)
 ClinVar gnomAD v4
11g.2884923delCA2612014695CDKN1Cn.142+711del
c.255+279del (n.255+279del)
c.567del (p.Pro190ArgfsTer?)
c.534del (p.Pro179ArgfsTer?)
 gnomAD v4
11g.2884923A=CA1948368490CDKN1Cn.142+711T=
c.255+279T= (n.255+279T=)
c.567T= (p.Ala189=)
c.534T= (p.Ala178=)
11g.2884923A>CCA472832547CDKN1Cn.142+711T>G
c.255+279T>G (n.255+279T>G)
c.567T>G (p.Ala189=)
c.534T>G (p.Ala178=)
 gnomAD v4
11g.2884923A>GCA10587114CDKN1Cn.142+711T>C
c.255+279T>C (n.255+279T>C)
c.567T>C (p.Ala189=)
c.534T>C (p.Ala178=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884923A>TCA472832550CDKN1Cn.142+711T>A
c.255+279T>A (n.255+279T>A)
c.567T>A (p.Ala189=)
c.534T>A (p.Ala178=)
 gnomAD v4
11g.2884923_2884941delinsAGCCGGAGCCGGAGCCGGGCA1948368488CDKN1Cn.142+693_142+711delinsCCCGGCTCCGGCTCCGGCT
c.255+261_255+279delinsCCCGGCTCCGGCTCCGGCT (n.255+261_255+279delinsCCCGGCTCCGGCTCCGGCT)
c.549_567delinsCCCGGCTCCGGCTCCGGCT (p.Ala183=)
c.516_534delinsCCCGGCTCCGGCTCCGGCT (p.Ala172=)
11g.2884923_2884947delinsAGCCGGAGCCGGAGCCGGGGCCGGGCA1948368489CDKN1Cn.142+687_142+711delinsCCCGGCCCCGGCTCCGGCTCCGGCT
c.255+255_255+279delinsCCCGGCCCCGGCTCCGGCTCCGGCT (n.255+255_255+279delinsCCCGGCCCCGGCTCCGGCTCCGGCT)
c.543_567delinsCCCGGCCCCGGCTCCGGCTCCGGCT (p.Ala181=)
c.510_534delinsCCCGGCCCCGGCTCCGGCTCCGGCT (p.Ala170=)
11g.2884924G>ACA379146450CDKN1Cn.142+710C>T
c.255+278C>T (n.255+278C>T)
c.566C>T (p.Ala189Val)
c.533C>T (p.Ala178Val)
 dbSNP gnomAD v2 gnomAD v4
11g.2884924G>CCA379146452CDKN1Cn.142+710C>G
c.255+278C>G (n.255+278C>G)
c.566C>G (p.Ala189Gly)
c.533C>G (p.Ala178Gly)
11g.2884924G=CA1948368492CDKN1Cn.142+710C=
c.255+278C= (n.255+278C=)
c.566C= (p.Ala189=)
c.533C= (p.Ala178=)
11g.2884924G>TCA379146451CDKN1Cn.142+710C>A
c.255+278C>A (n.255+278C>A)
c.566C>A (p.Ala189Asp)
c.533C>A (p.Ala178Asp)
 gnomAD v4
11g.2884928_2884929insGGCCGGCA2574728698CDKN1Cn.142+710_142+711insCCCGGC
c.255+278_255+279insCCCGGC (n.255+278_255+279insCCCGGC)
c.566_567insCCCGGC (p.Ala189_Pro190insProAla)
c.533_534insCCCGGC (p.Ala178_Pro179insProAla)
11g.2884934_2884935insGGCCGGAGCCGGCA2612014716CDKN1Cn.142+710_142+711insCCCGGCTCCGGC
c.255+278_255+279insCCCGGCTCCGGC (n.255+278_255+279insCCCGGCTCCGGC)
c.566_567insCCCGGCTCCGGC (p.Ala189_Pro190insProAlaProAla)
c.533_534insCCCGGCTCCGGC (p.Ala178_Pro179insProAlaProAla)
 gnomAD v4
11g.2884929_2884946delCA1948368491CDKN1Cn.142+693_142+710del
c.255+261_255+278del (n.255+261_255+278del)
c.549_566del (p.Pro184_Ala189del)
c.516_533del (p.Pro173_Ala178del)
 ClinVar dbSNP gnomAD v4
11g.2884929_2884952dupCA915947948CDKN1Cn.142+687_142+710dup
c.255+255_255+278dup (n.255+255_255+278dup)
c.543_566dup (p.Ala189_Pro190insProAlaProAlaProAlaProAla)
c.510_533dup (p.Ala178_Pro179insProAlaProAlaProAlaProAla)
 ClinVar dbSNP gnomAD v4
11g.2884929_2884952delCA658656117CDKN1Cn.142+687_142+710del
c.255+255_255+278del (n.255+255_255+278del)
c.543_566del (p.Pro182_Ala189del)
c.510_533del (p.Pro171_Ala178del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884927_2884956delCA2612014713CDKN1Cn.142+681_142+710del
c.255+249_255+278del (n.255+249_255+278del)
c.537_566del (p.Pro180_Ala189del)
c.504_533del (p.Pro169_Ala178del)
 gnomAD v4
11g.2884924_2884996delinsGCCGGAGCCGGAGCCGGGGCCGGGGCCGGGGCCAGGACCGCGACCGCGACCGGAGCCGCGACCGGAGCCGCGACA1948368493CDKN1Cn.142+638_142+710delinsTCGCGGCTCCGGTCGCGGCTCCGGTCGCGGTCGCGGTCCTGGCCCCGGCCCCGGCCCCGGCTCCGGCTCCGGC
c.255+206_255+278delinsTCGCGGCTCCGGTCGCGGCTCCGGTCGCGGTCGCGGTCCTGGCCCCGGCCCCGGCCCCGGCTCCGGCTCCGGC (n.255+206_255+278delinsTCGCGGCTCCGGTCGCGGCTCCGGTCGCGGTCGCGGTCCTGGCCCCGGCCCCGGCCCCGGCTCCGGCTCCGGC)
c.494_566delinsTCGCGGCTCCGGTCGCGGCTCCGGTCGCGGTCGCGGTCCTGGCCCCGGCCCCGGCCCCGGCTCCGGCTCCGGC (p.Val165=)
c.461_533delinsTCGCGGCTCCGGTCGCGGCTCCGGTCGCGGTCGCGGTCCTGGCCCCGGCCCCGGCCCCGGCTCCGGCTCCGGC (p.Val154=)
11g.2884925C>ACA379146453CDKN1Cn.142+709G>T
c.255+277G>T (n.255+277G>T)
c.565G>T (p.Ala189Ser)
c.532G>T (p.Ala178Ser)
 gnomAD v4
11g.2884925C>GCA379146454CDKN1Cn.142+709G>C
c.255+277G>C (n.255+277G>C)
c.565G>C (p.Ala189Pro)
c.532G>C (p.Ala178Pro)
 gnomAD v4
11g.2884925C>TCA379146455CDKN1Cn.142+709G>A
c.255+277G>A (n.255+277G>A)
c.565G>A (p.Ala189Thr)
c.532G>A (p.Ala178Thr)
 gnomAD v4
11g.2884925_2884935delCA2612014724CDKN1Cn.142+699_142+709del
c.255+267_255+277del (n.255+267_255+277del)
c.555_565del (p.Pro186SerfsTer?)
c.522_532del (p.Pro175SerfsTer?)
 gnomAD v4
11g.2884950_2885021delCA891842860CDKN1Cn.142+638_142+709del
c.255+206_255+277del (n.255+206_255+277del)
c.494_565del (p.Val165_Pro188del)
c.461_532del (p.Val154_Pro177del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884926C>ACA472832560CDKN1Cn.142+708G>T
c.255+276G>T (n.255+276G>T)
c.564G>T (p.Pro188=)
c.531G>T (p.Pro177=)
 gnomAD v4
11g.2884926C>GCA472832562CDKN1Cn.142+708G>C
c.255+276G>C (n.255+276G>C)
c.564G>C (p.Pro188=)
c.531G>C (p.Pro177=)
 gnomAD v4
11g.2884926C>TCA472832559CDKN1Cn.142+708G>A
c.255+276G>A (n.255+276G>A)
c.564G>A (p.Pro188=)
c.531G>A (p.Pro177=)
 gnomAD v4
11g.2884927G>ACA379146456CDKN1Cn.142+707C>T
c.255+275C>T (n.255+275C>T)
c.563C>T (p.Pro188Leu)
c.530C>T (p.Pro177Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884927G>CCA379146457CDKN1Cn.142+707C>G
c.255+275C>G (n.255+275C>G)
c.563C>G (p.Pro188Arg)
c.530C>G (p.Pro177Arg)
11g.2884927G=CA1948368494CDKN1Cn.142+707C=
c.255+275C= (n.255+275C=)
c.563C= (p.Pro188=)
c.530C= (p.Pro177=)
11g.2884927G>TCA379146458CDKN1Cn.142+707C>A
c.255+275C>A (n.255+275C>A)
c.563C>A (p.Pro188Gln)
c.530C>A (p.Pro177Gln)
 gnomAD v4
11g.2884927_2884928insCGACTCA2612014735CDKN1Cn.142+706_142+707insAGTCG
c.255+274_255+275insAGTCG (n.255+274_255+275insAGTCG)
c.562_563insAGTCG (p.Pro188GlnfsTer?)
c.529_530insAGTCG (p.Pro177GlnfsTer?)
 gnomAD v4
11g.2884928G>ACA379146461CDKN1Cn.142+706C>T
c.255+274C>T (n.255+274C>T)
c.562C>T (p.Pro188Ser)
c.529C>T (p.Pro177Ser)
 ClinVar dbSNP
11g.2884928G>CCA379146459CDKN1Cn.142+706C>G
c.255+274C>G (n.255+274C>G)
c.562C>G (p.Pro188Ala)
c.529C>G (p.Pro177Ala)
 ClinVar dbSNP gnomAD v2
11g.2884928G=CA1948368495CDKN1Cn.142+706C=
c.255+274C= (n.255+274C=)
c.562C= (p.Pro188=)
c.529C= (p.Pro177=)
11g.2884928G>TCA379146460CDKN1Cn.142+706C>A
c.255+274C>A (n.255+274C>A)
c.562C>A (p.Pro188Thr)
c.529C>A (p.Pro177Thr)
 ClinVar dbSNP gnomAD v4
11g.2884928_2884929delinsGACA1948368496CDKN1Cn.142+705_142+706delinsTC
c.255+273_255+274delinsTC (n.255+273_255+274delinsTC)
c.561_562delinsTC (p.Ala187=)
c.528_529delinsTC (p.Ala176=)
11g.2884928_2884929insGACACTAGGCCA2612014745CDKN1Cn.142+705_142+706insGCCTAGTGTC
c.255+273_255+274insGCCTAGTGTC (n.255+273_255+274insGCCTAGTGTC)
c.561_562insGCCTAGTGTC (p.Pro188AlafsTer2)
c.528_529insGCCTAGTGTC (p.Pro177AlafsTer2)
 gnomAD v4
11g.2884929delCA915947949CDKN1Cn.142+705del
c.255+273del (n.255+273del)
c.561del (p.Pro188ArgfsTer?)
c.528del (p.Pro177ArgfsTer?)
 ClinVar dbSNP gnomAD v4
11g.2884929A=CA1948368500CDKN1Cn.142+705T=
c.255+273T= (n.255+273T=)
c.561T= (p.Ala187=)
c.528T= (p.Ala176=)
11g.2884929A>CCA472832570CDKN1Cn.142+705T>G
c.255+273T>G (n.255+273T>G)
c.561T>G (p.Ala187=)
c.528T>G (p.Ala176=)
 gnomAD v4
11g.2884929A>GCA216367300CDKN1Cn.142+705T>C
c.255+273T>C (n.255+273T>C)
c.561T>C (p.Ala187=)
c.528T>C (p.Ala176=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884929A>TCA472832572CDKN1Cn.142+705T>A
c.255+273T>A (n.255+273T>A)
c.561T>A (p.Ala187=)
c.528T>A (p.Ala176=)
 ClinVar dbSNP gnomAD v4
11g.2884929_2884941delinsAGCCGGAGCCGGGCA1948368498CDKN1Cn.142+693_142+705delinsCCCGGCTCCGGCT
c.255+261_255+273delinsCCCGGCTCCGGCT (n.255+261_255+273delinsCCCGGCTCCGGCT)
c.549_561delinsCCCGGCTCCGGCT (p.Ala183=)
c.516_528delinsCCCGGCTCCGGCT (p.Ala172=)
11g.2884929_2884947delinsAGCCGGAGCCGGGGCCGGGCA1948368499CDKN1Cn.142+687_142+705delinsCCCGGCCCCGGCTCCGGCT
c.255+255_255+273delinsCCCGGCCCCGGCTCCGGCT (n.255+255_255+273delinsCCCGGCCCCGGCTCCGGCT)
c.543_561delinsCCCGGCCCCGGCTCCGGCT (p.Ala181=)
c.510_528delinsCCCGGCCCCGGCTCCGGCT (p.Ala170=)
11g.2884929_2884953delinsAGCCGGAGCCGGGGCCGGGGCCGGGCA1948368497CDKN1Cn.142+681_142+705delinsCCCGGCCCCGGCCCCGGCTCCGGCT
c.255+249_255+273delinsCCCGGCCCCGGCCCCGGCTCCGGCT (n.255+249_255+273delinsCCCGGCCCCGGCCCCGGCTCCGGCT)
c.537_561delinsCCCGGCCCCGGCCCCGGCTCCGGCT (p.Ala179=)
c.504_528delinsCCCGGCCCCGGCCCCGGCTCCGGCT (p.Ala168=)
11g.2884930delCA2612014770CDKN1Cn.142+704del
c.255+272del (n.255+272del)
c.560del (p.Ala187ValfsTer?)
c.527del (p.Ala176ValfsTer?)
 gnomAD v4
11g.2884930G>ACA379146462CDKN1Cn.142+704C>T
c.255+272C>T (n.255+272C>T)
c.560C>T (p.Ala187Val)
c.527C>T (p.Ala176Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884930G>CCA379146463CDKN1Cn.142+704C>G
c.255+272C>G (n.255+272C>G)
c.560C>G (p.Ala187Gly)
c.527C>G (p.Ala176Gly)
 gnomAD v4
11g.2884930G=CA1948368502CDKN1Cn.142+704C=
c.255+272C= (n.255+272C=)
c.560C= (p.Ala187=)
c.527C= (p.Ala176=)
11g.2884930G>TCA379146464CDKN1Cn.142+704C>A
c.255+272C>A (n.255+272C>A)
c.560C>A (p.Ala187Asp)
c.527C>A (p.Ala176Asp)
 gnomAD v4
11g.2884930_2884931insGCCGGGCA916084232CDKN1Cn.142+704_142+705insCCGGCC
c.255+272_255+273insCCGGCC (n.255+272_255+273insCCGGCC)
c.560_561insCCGGCC (p.Ala187_Pro188insArgPro)
c.527_528insCCGGCC (p.Ala176_Pro177insArgPro)
11g.2884930_2884931insGCCGGGGCCGGGCA916084231CDKN1Cn.142+704_142+705insCCGGCCCCGGCC
c.255+272_255+273insCCGGCCCCGGCC (n.255+272_255+273insCCGGCCCCGGCC)
c.560_561insCCGGCCCCGGCC (p.Ala187_Pro188insArgProArgPro)
c.527_528insCCGGCCCCGGCC (p.Ala176_Pro177insArgProArgPro)
11g.2884930_2884931insGCCGGGGCCGGGGCCGGGCA916084230CDKN1Cn.142+704_142+705insCCGGCCCCGGCCCCGGCC
c.255+272_255+273insCCGGCCCCGGCCCCGGCC (n.255+272_255+273insCCGGCCCCGGCCCCGGCC)
c.560_561insCCGGCCCCGGCCCCGGCC (p.Ala187_Pro188insArgProArgProArgPro)
c.527_528insCCGGCCCCGGCCCCGGCC (p.Ala176_Pro177insArgProArgProArgPro)
11g.2884934_2884935insGGCCGGCA10582903CDKN1Cn.142+704_142+705insCCCGGC
c.255+272_255+273insCCCGGC (n.255+272_255+273insCCCGGC)
c.560_561insCCCGGC (p.Ala187_Pro188insProAla)
c.527_528insCCCGGC (p.Ala176_Pro177insProAla)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884934_2884935insGGCCGGGGCCGGCA915947951CDKN1Cn.142+704_142+705insCCCGGCCCCGGC
c.255+272_255+273insCCCGGCCCCGGC (n.255+272_255+273insCCCGGCCCCGGC)
c.560_561insCCCGGCCCCGGC (p.Ala187_Pro188insProAlaProAla)
c.527_528insCCCGGCCCCGGC (p.Ala176_Pro177insProAlaProAla)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884934_2884935insGGCCGGGGCCGGGGCCGGCA915947950CDKN1Cn.142+704_142+705insCCCGGCCCCGGCCCCGGC
c.255+272_255+273insCCCGGCCCCGGCCCCGGC (n.255+272_255+273insCCCGGCCCCGGCCCCGGC)
c.560_561insCCCGGCCCCGGCCCCGGC (p.Ala187_Pro188insProAlaProAlaProAla)
c.527_528insCCCGGCCCCGGCCCCGGC (p.Ala176_Pro177insProAlaProAlaProAla)
 ClinVar dbSNP gnomAD v4
11g.2884930_2884935delinsGCCGGACA1948368501CDKN1Cn.142+699_142+704delinsTCCGGC
c.255+267_255+272delinsTCCGGC (n.255+267_255+272delinsTCCGGC)
c.555_560delinsTCCGGC (p.Ala185=)
c.522_527delinsTCCGGC (p.Ala174=)
11g.2884935_2884946delCA658656118CDKN1Cn.142+693_142+704del
c.255+261_255+272del (n.255+261_255+272del)
c.549_560del (p.Pro184_Ala187del)
c.516_527del (p.Pro173_Ala176del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884935_2884952delCA16613345CDKN1Cn.142+687_142+704del
c.255+255_255+272del (n.255+255_255+272del)
c.543_560del (p.Pro182_Ala187del)
c.510_527del (p.Pro171_Ala176del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884933_2884956delCA934495655CDKN1Cn.142+681_142+704del
c.255+249_255+272del (n.255+249_255+272del)
c.537_560del (p.Pro180_Ala187del)
c.504_527del (p.Pro169_Ala176del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884935_2885018delCA2612014761CDKN1Cn.142+621_142+704del
c.255+189_255+272del (n.255+189_255+272del)
c.477_560del (p.Pro160_Ala187del)
c.444_527del (p.Pro149_Ala176del)
 gnomAD v4
11g.2884931C>ACA379146465CDKN1Cn.142+703G>T
c.255+271G>T (n.255+271G>T)
c.559G>T (p.Ala187Ser)
c.526G>T (p.Ala176Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2884931C=CA1948368503CDKN1Cn.142+703G=
c.255+271G= (n.255+271G=)
c.559G= (p.Ala187=)
c.526G= (p.Ala176=)
11g.2884931C>GCA379146467CDKN1Cn.142+703G>C
c.255+271G>C (n.255+271G>C)
c.559G>C (p.Ala187Pro)
c.526G>C (p.Ala176Pro)
 gnomAD v4
11g.2884931C>TCA379146466CDKN1Cn.142+703G>A
c.255+271G>A (n.255+271G>A)
c.559G>A (p.Ala187Thr)
c.526G>A (p.Ala176Thr)
 gnomAD v3 gnomAD v4
11g.2884931_2884935delCA915947952CDKN1Cn.142+699_142+703del
c.255+267_255+271del (n.255+267_255+271del)
c.555_559del (p.Pro186SerfsTer?)
c.522_526del (p.Pro175SerfsTer?)
 ClinVar dbSNP gnomAD v4
11g.2884940_2884993delCA2573145977CDKN1Cn.142+650_142+703del
c.255+218_255+271del (n.255+218_255+271del)
c.506_559del (p.Val169_Pro186del)
c.473_526del (p.Val158_Pro175del)
 ClinVar dbSNP
11g.2884932C>ACA472832584CDKN1Cn.142+702G>T
c.255+270G>T (n.255+270G>T)
c.558G>T (p.Pro186=)
c.525G>T (p.Pro175=)
 gnomAD v4
11g.2884932C=CA1948368504CDKN1Cn.142+702G=
c.255+270G= (n.255+270G=)
c.558G= (p.Pro186=)
c.525G= (p.Pro175=)
11g.2884932C>GCA472832586CDKN1Cn.142+702G>C
c.255+270G>C (n.255+270G>C)
c.558G>C (p.Pro186=)
c.525G>C (p.Pro175=)
 gnomAD v4
11g.2884932C>TCA472832588CDKN1Cn.142+702G>A
c.255+270G>A (n.255+270G>A)
c.558G>A (p.Pro186=)
c.525G>A (p.Pro175=)
 ClinVar dbSNP gnomAD v4
11g.2884932_2884933insACA2612014785CDKN1Cn.142+701_142+702insT
c.255+269_255+270insT (n.255+269_255+270insT)
c.557_558insT (p.Ala187GlyfsTer?)
c.524_525insT (p.Ala176GlyfsTer?)
 gnomAD v4
11g.2884933G>ACA379146468CDKN1Cn.142+701C>T
c.255+269C>T (n.255+269C>T)
c.557C>T (p.Pro186Leu)
c.524C>T (p.Pro175Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2884933G>CCA379146469CDKN1Cn.142+701C>G
c.255+269C>G (n.255+269C>G)
c.557C>G (p.Pro186Arg)
c.524C>G (p.Pro175Arg)
 gnomAD v4
11g.2884933G=CA1948368505CDKN1Cn.142+701C=
c.255+269C= (n.255+269C=)
c.557C= (p.Pro186=)
c.524C= (p.Pro175=)
11g.2884933G>TCA379146470CDKN1Cn.142+701C>A
c.255+269C>A (n.255+269C>A)
c.557C>A (p.Pro186Gln)
c.524C>A (p.Pro175Gln)
 gnomAD v4
11g.2884933_2884934insCGACTGCA2574728699CDKN1Cn.142+701_142+702insAGTCGC
c.255+269_255+270insAGTCGC (n.255+269_255+270insAGTCGC)
c.557_558insAGTCGC (p.Pro186_Ala187insValAla)
c.524_525insAGTCGC (p.Pro175_Ala176insValAla)
11g.2884934G>ACA379146471CDKN1Cn.142+700C>T
c.255+268C>T (n.255+268C>T)
c.556C>T (p.Pro186Ser)
c.523C>T (p.Pro175Ser)
11g.2884934G>CCA379146472CDKN1Cn.142+700C>G
c.255+268C>G (n.255+268C>G)
c.556C>G (p.Pro186Ala)
c.523C>G (p.Pro175Ala)
 ClinVar dbSNP
11g.2884934G=CA1948368506CDKN1Cn.142+700C=
c.255+268C= (n.255+268C=)
c.556C= (p.Pro186=)
c.523C= (p.Pro175=)
11g.2884934G>TCA379146473CDKN1Cn.142+700C>A
c.255+268C>A (n.255+268C>A)
c.556C>A (p.Pro186Thr)
c.523C>A (p.Pro175Thr)
 gnomAD v4
11g.2884935delCA934495657CDKN1Cn.142+699del
c.255+267del (n.255+267del)
c.555del (p.Pro186ArgfsTer?)
c.522del (p.Pro175ArgfsTer?)
 gnomAD v3 gnomAD v4
11g.2884935A=CA1948368507CDKN1Cn.142+699T=
c.255+267T= (n.255+267T=)
c.555T= (p.Ala185=)
c.522T= (p.Ala174=)
11g.2884935A>CCA472832596CDKN1Cn.142+699T>G
c.255+267T>G (n.255+267T>G)
c.555T>G (p.Ala185=)
c.522T>G (p.Ala174=)
 dbSNP gnomAD v4
11g.2884935A>GCA171662CDKN1Cn.142+699T>C
c.255+267T>C (n.255+267T>C)
c.555T>C (p.Ala185=)
c.522T>C (p.Ala174=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2884935A>TCA472832599CDKN1Cn.142+699T>A
c.255+267T>A (n.255+267T>A)
c.555T>A (p.Ala185=)
c.522T>A (p.Ala174=)
 gnomAD v4
11g.2884935delinsGGCCGGGCA2740093583CDKN1Cn.142+699delinsCCCGGCC
c.255+267delinsCCCGGCC (n.255+267delinsCCCGGCC)
c.555delinsCCCGGCC (p.Ala185_Pro186insProAla)
c.522delinsCCCGGCC (p.Ala174_Pro175insProAla)
 ClinVar
11g.2884935delinsGGCCGGAGCCGGAGCCGGGCA2739276085CDKN1Cn.142+699delinsCCCGGCTCCGGCTCCGGCC
c.255+267delinsCCCGGCTCCGGCTCCGGCC (n.255+267delinsCCCGGCTCCGGCTCCGGCC)
c.555delinsCCCGGCTCCGGCTCCGGCC (p.Ala185_Pro186insProAlaProAlaProAla)
c.522delinsCCCGGCTCCGGCTCCGGCC (p.Ala174_Pro175insProAlaProAlaProAla)
 ClinVar
11g.2884939_2884940insCAGCCGCA2573053488CDKN1Cn.142+699_142+700insGCGGCT
c.255+267_255+268insGCGGCT (n.255+267_255+268insGCGGCT)
c.555_556insGCGGCT (p.Ala185_Pro186insAlaAla)
c.522_523insGCGGCT (p.Ala174_Pro175insAlaAla)
 ClinVar dbSNP
11g.2884935_2884953delinsAGCCGGGGCCGGGGCCGGGCA1948368508CDKN1Cn.142+681_142+699delinsCCCGGCCCCGGCCCCGGCT
c.255+249_255+267delinsCCCGGCCCCGGCCCCGGCT (n.255+249_255+267delinsCCCGGCCCCGGCCCCGGCT)
c.537_555delinsCCCGGCCCCGGCCCCGGCT (p.Ala179=)
c.504_522delinsCCCGGCCCCGGCCCCGGCT (p.Ala168=)
11g.2884935_2884936insAGCCGGGGCCGGCA916084233CDKN1Cn.142+698_142+699insCCGGCCCCGGCT
c.255+266_255+267insCCGGCCCCGGCT (n.255+266_255+267insCCGGCCCCGGCT)
c.554_555insCCGGCCCCGGCT (p.Ala185_Pro186insArgProArgLeu)
c.521_522insCCGGCCCCGGCT (p.Ala174_Pro175insArgProArgLeu)
11g.2884936delCA2612014808CDKN1Cn.142+698del
c.255+266del (n.255+266del)
c.554del (p.Ala185ValfsTer?)
c.521del (p.Ala174ValfsTer?)
 gnomAD v4
11g.2884936G>ACA379146474CDKN1Cn.142+698C>T
c.255+266C>T (n.255+266C>T)
c.554C>T (p.Ala185Val)
c.521C>T (p.Ala174Val)
 gnomAD v4
11g.2884936G>CCA379146475CDKN1Cn.142+698C>G
c.255+266C>G (n.255+266C>G)
c.554C>G (p.Ala185Gly)
c.521C>G (p.Ala174Gly)
 gnomAD v4
11g.2884936G>TCA379146476CDKN1Cn.142+698C>A
c.255+266C>A (n.255+266C>A)
c.554C>A (p.Ala185Asp)
c.521C>A (p.Ala174Asp)
 gnomAD v4
11g.2884940_2884941insAGCCGGGGCCGGCA915947953CDKN1Cn.142+698_142+699insCCCGGCTCCGGC
c.255+266_255+267insCCCGGCTCCGGC (n.255+266_255+267insCCCGGCTCCGGC)
c.554_555insCCCGGCTCCGGC (p.Ala185_Pro186insProAlaProAla)
c.521_522insCCCGGCTCCGGC (p.Ala174_Pro175insProAlaProAla)
 ClinVar dbSNP gnomAD v4
11g.2884946_2884947insAGCCGGAGCCGGGGCCGGGGCCGGCA2612014809CDKN1Cn.142+698_142+699insCCCGGCTCCGGCTCCGGCCCCGGC
c.255+266_255+267insCCCGGCTCCGGCTCCGGCCCCGGC (n.255+266_255+267insCCCGGCTCCGGCTCCGGCCCCGGC)
c.554_555insCCCGGCTCCGGCTCCGGCCCCGGC (p.Ala185_Pro186insProAlaProAlaProAlaProAla)
c.521_522insCCCGGCTCCGGCTCCGGCCCCGGC (p.Ala174_Pro175insProAlaProAlaProAlaProAla)
 gnomAD v4
11g.2884951_2884956dupCA16613580CDKN1Cn.142+693_142+698dup
c.255+261_255+266dup (n.255+261_255+266dup)
c.549_554dup (p.Ala185_Pro186insProAla)
c.516_521dup (p.Ala174_Pro175insProAla)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884945_2884956dupCA2580615613CDKN1Cn.142+687_142+698dup
c.255+255_255+266dup (n.255+255_255+266dup)
c.543_554dup (p.Ala185_Pro186insProAlaProAla)
c.510_521dup (p.Ala174_Pro175insProAlaProAla)
 ClinVar dbSNP
11g.2884951_2884956delCA16613543CDKN1Cn.142+693_142+698del
c.255+261_255+266del (n.255+261_255+266del)
c.549_554del (p.Pro184_Ala185del)
c.516_521del (p.Pro173_Ala174del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884945_2884956delCA10582904CDKN1Cn.142+687_142+698del
c.255+255_255+266del (n.255+255_255+266del)
c.543_554del (p.Pro182_Ala185del)
c.510_521del (p.Pro171_Ala174del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884939_2884956delCA16613346CDKN1Cn.142+681_142+698del
c.255+249_255+266del (n.255+249_255+266del)
c.537_554del (p.Pro180_Ala185del)
c.504_521del (p.Pro169_Ala174del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884944_2885021delCA2580082671CDKN1Cn.142+621_142+698del
c.255+189_255+266del (n.255+189_255+266del)
c.477_554del (p.Pro160_Ala185del)
c.444_521del (p.Pro149_Ala174del)
 ClinVar gnomAD v4
11g.2884937C>ACA379146479CDKN1Cn.142+697G>T
c.255+265G>T (n.255+265G>T)
c.553G>T (p.Ala185Ser)
c.520G>T (p.Ala174Ser)
 gnomAD v4
11g.2884937C>GCA379146478CDKN1Cn.142+697G>C
c.255+265G>C (n.255+265G>C)
c.553G>C (p.Ala185Pro)
c.520G>C (p.Ala174Pro)
 gnomAD v4
11g.2884937C>TCA379146477CDKN1Cn.142+697G>A
c.255+265G>A (n.255+265G>A)
c.553G>A (p.Ala185Thr)
c.520G>A (p.Ala174Thr)
 gnomAD v4
11g.2884938C>ACA472832611CDKN1Cn.142+696G>T
c.255+264G>T (n.255+264G>T)
c.552G>T (p.Pro184=)
c.519G>T (p.Pro173=)
 dbSNP gnomAD v4
11g.2884938C=CA1948368509CDKN1Cn.142+696G=
c.255+264G= (n.255+264G=)
c.552G= (p.Pro184=)
c.519G= (p.Pro173=)
11g.2884938C>GCA472832613CDKN1Cn.142+696G>C
c.255+264G>C (n.255+264G>C)
c.552G>C (p.Pro184=)
c.519G>C (p.Pro173=)
11g.2884938C>TCA472832614CDKN1Cn.142+696G>A
c.255+264G>A (n.255+264G>A)
c.552G>A (p.Pro184=)
c.519G>A (p.Pro173=)
 ClinVar dbSNP gnomAD v4
11g.2884939G>ACA216367307CDKN1Cn.142+695C>T
c.255+263C>T (n.255+263C>T)
c.551C>T (p.Pro184Leu)
c.518C>T (p.Pro173Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884939G>CCA379146480CDKN1Cn.142+695C>G
c.255+263C>G (n.255+263C>G)
c.551C>G (p.Pro184Arg)
c.518C>G (p.Pro173Arg)
 gnomAD v4
11g.2884939G=CA1948368510CDKN1Cn.142+695C=
c.255+263C= (n.255+263C=)
c.551C= (p.Pro184=)
c.518C= (p.Pro173=)
11g.2884939G>TCA379146481CDKN1Cn.142+695C>A
c.255+263C>A (n.255+263C>A)
c.551C>A (p.Pro184Gln)
c.518C>A (p.Pro173Gln)
 gnomAD v4
11g.2884942delCA2612014825CDKN1Cn.142+695del
c.255+263del (n.255+263del)
c.551del (p.Pro184ArgfsTer?)
c.518del (p.Pro173ArgfsTer?)
 gnomAD v4
11g.2884940G>ACA379146482CDKN1Cn.142+694C>T
c.255+262C>T (n.255+262C>T)
c.550C>T (p.Pro184Ser)
c.517C>T (p.Pro173Ser)
 dbSNP gnomAD v2
11g.2884940G>CCA379146483CDKN1Cn.142+694C>G
c.255+262C>G (n.255+262C>G)
c.550C>G (p.Pro184Ala)
c.517C>G (p.Pro173Ala)
 dbSNP
11g.2884940G=CA1948368511CDKN1Cn.142+694C=
c.255+262C= (n.255+262C=)
c.550C= (p.Pro184=)
c.517C= (p.Pro173=)
11g.2884940G>TCA379146484CDKN1Cn.142+694C>A
c.255+262C>A (n.255+262C>A)
c.550C>A (p.Pro184Thr)
c.517C>A (p.Pro173Thr)
 gnomAD v4
11g.2884941G>ACA472832624CDKN1Cn.142+693C>T
c.255+261C>T (n.255+261C>T)
c.549C>T (p.Ala183=)
c.516C>T (p.Ala172=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884941G>CCA472832625CDKN1Cn.142+693C>G
c.255+261C>G (n.255+261C>G)
c.549C>G (p.Ala183=)
c.516C>G (p.Ala172=)
 gnomAD v4
11g.2884941G=CA1948368512CDKN1Cn.142+693C=
c.255+261C= (n.255+261C=)
c.549C= (p.Ala183=)
c.516C= (p.Ala172=)
11g.2884941G>TCA472832627CDKN1Cn.142+693C>A
c.255+261C>A (n.255+261C>A)
c.549C>A (p.Ala183=)
c.516C>A (p.Ala172=)
 dbSNP gnomAD v3 gnomAD v4
11g.2884942G>ACA379146485CDKN1Cn.142+692C>T
c.255+260C>T (n.255+260C>T)
c.548C>T (p.Ala183Val)
c.515C>T (p.Ala172Val)
 ClinVar dbSNP gnomAD v4
11g.2884942G>CCA379146486CDKN1Cn.142+692C>G
c.255+260C>G (n.255+260C>G)
c.548C>G (p.Ala183Gly)
c.515C>G (p.Ala172Gly)
 gnomAD v4
11g.2884942G=CA1948368513CDKN1Cn.142+692C=
c.255+260C= (n.255+260C=)
c.548C= (p.Ala183=)
c.515C= (p.Ala172=)
11g.2884942G>TCA379146487CDKN1Cn.142+692C>A
c.255+260C>A (n.255+260C>A)
c.548C>A (p.Ala183Asp)
c.515C>A (p.Ala172Asp)
 gnomAD v4
11g.2884946_2884947insAGCCGGAGCCGGAGCCGGCA2580615614CDKN1Cn.142+692_142+693insTCCGGCTCCGGCTCCGGC
c.255+260_255+261insTCCGGCTCCGGCTCCGGC (n.255+260_255+261insTCCGGCTCCGGCTCCGGC)
c.548_549insTCCGGCTCCGGCTCCGGC (p.Ala183_Pro184insProAlaProAlaProAla)
c.515_516insTCCGGCTCCGGCTCCGGC (p.Ala172_Pro173insProAlaProAlaProAla)
 ClinVar dbSNP
11g.2884956_2885021delCA934495674CDKN1Cn.142+627_142+692del
c.255+195_255+260del (n.255+195_255+260del)
c.483_548del (p.Pro162_Ala183del)
c.450_515del (p.Pro151_Ala172del)
 ClinVar gnomAD v3 gnomAD v4
11g.2884954_2885067delCA2790205555CDKN1Cn.142+579_142+692del
c.255+147_255+260del (n.255+147_255+260del)
c.435_548del (p.Ser146_Ala183del)
c.402_515del (p.Ser135_Ala172del)
11g.2884943C>ACA379146490CDKN1Cn.142+691G>T
c.255+259G>T (n.255+259G>T)
c.547G>T (p.Ala183Ser)
c.514G>T (p.Ala172Ser)
 gnomAD v4
11g.2884943C=CA1948368514CDKN1Cn.142+691G=
c.255+259G= (n.255+259G=)
c.547G= (p.Ala183=)
c.514G= (p.Ala172=)
11g.2884943C>GCA379146489CDKN1Cn.142+691G>C
c.255+259G>C (n.255+259G>C)
c.547G>C (p.Ala183Pro)
c.514G>C (p.Ala172Pro)
 gnomAD v4
11g.2884943C>TCA379146488CDKN1Cn.142+691G>A
c.255+259G>A (n.255+259G>A)
c.547G>A (p.Ala183Thr)
c.514G>A (p.Ala172Thr)
 ClinVar dbSNP gnomAD v4
11g.2884944C>ACA472832636CDKN1Cn.142+690G>T
c.255+258G>T (n.255+258G>T)
c.546G>T (p.Pro182=)
c.513G>T (p.Pro171=)
 gnomAD v4
11g.2884944C>GCA472832638CDKN1Cn.142+690G>C
c.255+258G>C (n.255+258G>C)
c.546G>C (p.Pro182=)
c.513G>C (p.Pro171=)
 gnomAD v4
11g.2884944C>TCA472832641CDKN1Cn.142+690G>A
c.255+258G>A (n.255+258G>A)
c.546G>A (p.Pro182=)
c.513G>A (p.Pro171=)
 gnomAD v4
11g.2884945G>ACA379146491CDKN1Cn.142+689C>T
c.255+257C>T (n.255+257C>T)
c.545C>T (p.Pro182Leu)
c.512C>T (p.Pro171Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2884945G>CCA379146492CDKN1Cn.142+689C>G
c.255+257C>G (n.255+257C>G)
c.545C>G (p.Pro182Arg)
c.512C>G (p.Pro171Arg)
 gnomAD v4
11g.2884945G=CA1948368515CDKN1Cn.142+689C=
c.255+257C= (n.255+257C=)
c.545C= (p.Pro182=)
c.512C= (p.Pro171=)
11g.2884945G>TCA379146493CDKN1Cn.142+689C>A
c.255+257C>A (n.255+257C>A)
c.545C>A (p.Pro182Gln)
c.512C>A (p.Pro171Gln)
11g.2884948dupCA2574728700CDKN1Cn.142+689dup
c.255+257dup (n.255+257dup)
c.545dup (p.Ala183GlyfsTer?)
c.512dup (p.Ala172GlyfsTer?)
11g.2884948delCA2574728701CDKN1Cn.142+689del
c.255+257del (n.255+257del)
c.545del (p.Pro182ArgfsTer?)
c.512del (p.Pro171ArgfsTer?)
 ClinVar gnomAD v4
11g.2884945_2884966delinsAGGACCGCGACCGCGACCGGAGCA2573145978CDKN1Cn.142+668_142+689delinsCTCCGGTCGCGGTCGCGGTCCT
c.255+236_255+257delinsCTCCGGTCGCGGTCGCGGTCCT (n.255+236_255+257delinsCTCCGGTCGCGGTCGCGGTCCT)
c.524_545delinsCTCCGGTCGCGGTCGCGGTCCT (p.Val175_Pro182delinsAlaProValAlaValAlaValLeu)
c.491_512delinsCTCCGGTCGCGGTCGCGGTCCT (p.Val164_Pro171delinsAlaProValAlaValAlaValLeu)
 ClinVar dbSNP
11g.2884946G>ACA379146494CDKN1Cn.142+688C>T
c.255+256C>T (n.255+256C>T)
c.544C>T (p.Pro182Ser)
c.511C>T (p.Pro171Ser)
 gnomAD v4
11g.2884946G>CCA379146495CDKN1Cn.142+688C>G
c.255+256C>G (n.255+256C>G)
c.544C>G (p.Pro182Ala)
c.511C>G (p.Pro171Ala)
 gnomAD v4
11g.2884946G>TCA379146496CDKN1Cn.142+688C>A
c.255+256C>A (n.255+256C>A)
c.544C>A (p.Pro182Thr)
c.511C>A (p.Pro171Thr)
 gnomAD v4
11g.2884948_2884959delCA2573145979CDKN1Cn.142+677_142+688del
c.255+245_255+256del (n.255+245_255+256del)
c.533_544del (p.Leu178_Ala181del)
c.500_511del (p.Leu167_Ala170del)
 ClinVar dbSNP
11g.2884947G>ACA472832653CDKN1Cn.142+687C>T
c.255+255C>T (n.255+255C>T)
c.543C>T (p.Ala181=)
c.510C>T (p.Ala170=)
 ClinVar dbSNP gnomAD v4
11g.2884947G>CCA472832652CDKN1Cn.142+687C>G
c.255+255C>G (n.255+255C>G)
c.543C>G (p.Ala181=)
c.510C>G (p.Ala170=)
 gnomAD v4
11g.2884947G=CA1948368516CDKN1Cn.142+687C=
c.255+255C= (n.255+255C=)
c.543C= (p.Ala181=)
c.510C= (p.Ala170=)
11g.2884947G>TCA472832650CDKN1Cn.142+687C>A
c.255+255C>A (n.255+255C>A)
c.543C>A (p.Ala181=)
c.510C>A (p.Ala170=)
 ClinVar dbSNP gnomAD v4
11g.2884948G>ACA379146497CDKN1Cn.142+686C>T
c.255+254C>T (n.255+254C>T)
c.542C>T (p.Ala181Val)
c.509C>T (p.Ala170Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884948G>CCA379146499CDKN1Cn.142+686C>G
c.255+254C>G (n.255+254C>G)
c.542C>G (p.Ala181Gly)
c.509C>G (p.Ala170Gly)
 ClinVar
11g.2884948G=CA1948368517CDKN1Cn.142+686C=
c.255+254C= (n.255+254C=)
c.542C= (p.Ala181=)
c.509C= (p.Ala170=)
11g.2884948G>TCA379146498CDKN1Cn.142+686C>A
c.255+254C>A (n.255+254C>A)
c.542C>A (p.Ala181Asp)
c.509C>A (p.Ala170Asp)
 ClinVar dbSNP gnomAD v4
11g.2884957_2885016delCA934495677CDKN1Cn.142+627_142+686del
c.255+195_255+254del (n.255+195_255+254del)
c.483_542del (p.Pro162_Ala181del)
c.450_509del (p.Pro151_Ala170del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884949C>ACA379146500CDKN1Cn.142+685G>T
c.255+253G>T (n.255+253G>T)
c.541G>T (p.Ala181Ser)
c.508G>T (p.Ala170Ser)
 gnomAD v4
11g.2884949C=CA1948368518CDKN1Cn.142+685G=
c.255+253G= (n.255+253G=)
c.541G= (p.Ala181=)
c.508G= (p.Ala170=)
11g.2884949C>GCA379146501CDKN1Cn.142+685G>C
c.255+253G>C (n.255+253G>C)
c.541G>C (p.Ala181Pro)
c.508G>C (p.Ala170Pro)
 gnomAD v4
11g.2884949C>TCA379146502CDKN1Cn.142+685G>A
c.255+253G>A (n.255+253G>A)
c.541G>A (p.Ala181Thr)
c.508G>A (p.Ala170Thr)
 ClinVar dbSNP gnomAD v4
11g.2884950delCA2612014890CDKN1Cn.142+685del
c.255+253del (n.255+253del)
c.541del (p.Ala181ProfsTer?)
c.508del (p.Ala170ProfsTer?)
 gnomAD v4
11g.2884952_2884969delCA2612014889CDKN1Cn.142+668_142+685del
c.255+236_255+253del (n.255+236_255+253del)
c.524_541del (p.Val175_Pro180del)
c.491_508del (p.Val164_Pro169del)
 gnomAD v4
11g.2884953_2884976dupCA2499220897CDKN1Cn.142+662_142+685dup
c.255+230_255+253dup (n.255+230_255+253dup)
c.518_541dup (p.Pro180_Ala181insValAlaValAlaValLeuAlaPro)
c.485_508dup (p.Pro169_Ala170insValAlaValAlaValLeuAlaPro)
 ClinVar dbSNP gnomAD v4
11g.2884950C>ACA472832664CDKN1Cn.142+684G>T
c.255+252G>T (n.255+252G>T)
c.540G>T (p.Pro180=)
c.507G>T (p.Pro169=)
11g.2884950C=CA1948368519CDKN1Cn.142+684G=
c.255+252G= (n.255+252G=)
c.540G= (p.Pro180=)
c.507G= (p.Pro169=)
11g.2884950C>GCA472832666CDKN1Cn.142+684G>C
c.255+252G>C (n.255+252G>C)
c.540G>C (p.Pro180=)
c.507G>C (p.Pro169=)
11g.2884950C>TCA472832668CDKN1Cn.142+684G>A
c.255+252G>A (n.255+252G>A)
c.540G>A (p.Pro180=)
c.507G>A (p.Pro169=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884951G>ACA216367308CDKN1Cn.142+683C>T
c.255+251C>T (n.255+251C>T)
c.539C>T (p.Pro180Leu)
c.506C>T (p.Pro169Leu)
 ClinVar dbSNP gnomAD v4
11g.2884951G>CCA379146503CDKN1Cn.142+683C>G
c.255+251C>G (n.255+251C>G)
c.539C>G (p.Pro180Arg)
c.506C>G (p.Pro169Arg)
 ClinVar dbSNP gnomAD v4
11g.2884951G=CA1948368520CDKN1Cn.142+683C=
c.255+251C= (n.255+251C=)
c.539C= (p.Pro180=)
c.506C= (p.Pro169=)
11g.2884951G>TCA379146504CDKN1Cn.142+683C>A
c.255+251C>A (n.255+251C>A)
c.539C>A (p.Pro180Gln)
c.506C>A (p.Pro169Gln)
 ClinVar dbSNP gnomAD v4
11g.2884954delCA2612014898CDKN1Cn.142+683del
c.255+251del (n.255+251del)
c.539del (p.Pro180ArgfsTer?)
c.506del (p.Pro169ArgfsTer?)
 gnomAD v4
11g.2884952G>ACA379146505CDKN1Cn.142+682C>T
c.255+250C>T (n.255+250C>T)
c.538C>T (p.Pro180Ser)
c.505C>T (p.Pro169Ser)
 ClinVar gnomAD v4
11g.2884952G>CCA379146506CDKN1Cn.142+682C>G
c.255+250C>G (n.255+250C>G)
c.538C>G (p.Pro180Ala)
c.505C>G (p.Pro169Ala)
11g.2884952G>TCA379146507CDKN1Cn.142+682C>A
c.255+250C>A (n.255+250C>A)
c.538C>A (p.Pro180Thr)
c.505C>A (p.Pro169Thr)
11g.2884956_2884957insCGGGCCCA2499220898CDKN1Cn.142+682_142+683insGGGCCC
c.255+250_255+251insGGGCCC (n.255+250_255+251insGGGCCC)
c.538_539insGGGCCC (p.Ala179_Pro180insArgAla)
c.505_506insGGGCCC (p.Ala168_Pro169insArgAla)
 ClinVar dbSNP gnomAD v3
11g.2884954_2884959dupCA2524136324CDKN1Cn.142+677_142+682dup
c.255+245_255+250dup (n.255+245_255+250dup)
c.533_538dup (p.Ala179_Pro180insLeuAla)
c.500_505dup (p.Ala168_Pro169insLeuAla)
11g.2884953G>ACA472832678CDKN1Cn.142+681C>T
c.255+249C>T (n.255+249C>T)
c.537C>T (p.Ala179=)
c.504C>T (p.Ala168=)
 ClinVar dbSNP gnomAD v4
11g.2884953G>CCA472832682CDKN1Cn.142+681C>G
c.255+249C>G (n.255+249C>G)
c.537C>G (p.Ala179=)
c.504C>G (p.Ala168=)
11g.2884953G=CA1948368521CDKN1Cn.142+681C=
c.255+249C= (n.255+249C=)
c.537C= (p.Ala179=)
c.504C= (p.Ala168=)
11g.2884953G>TCA472832679CDKN1Cn.142+681C>A
c.255+249C>A (n.255+249C>A)
c.537C>A (p.Ala179=)
c.504C>A (p.Ala168=)
 dbSNP gnomAD v4
11g.2884953_2884956delCA2612014911CDKN1Cn.142+678_142+681del
c.255+246_255+249del (n.255+246_255+249del)
c.534_537del (p.Ala179ArgfsTer?)
c.501_504del (p.Ala168ArgfsTer?)
 gnomAD v4
11g.2884954G>ACA379146508CDKN1Cn.142+680C>T
c.255+248C>T (n.255+248C>T)
c.536C>T (p.Ala179Val)
c.503C>T (p.Ala168Val)
 ClinVar dbSNP gnomAD v4
11g.2884954G>CCA379146509CDKN1Cn.142+680C>G
c.255+248C>G (n.255+248C>G)
c.536C>G (p.Ala179Gly)
c.503C>G (p.Ala168Gly)
 dbSNP
11g.2884954G=CA1948368522CDKN1Cn.142+680C=
c.255+248C= (n.255+248C=)
c.536C= (p.Ala179=)
c.503C= (p.Ala168=)
11g.2884954G>TCA379146510CDKN1Cn.142+680C>A
c.255+248C>A (n.255+248C>A)
c.536C>A (p.Ala179Asp)
c.503C>A (p.Ala168Asp)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884957_2884980delCA2612014922CDKN1Cn.142+657_142+680del
c.255+225_255+248del (n.255+225_255+248del)
c.513_536del (p.Pro172_Ala179del)
c.480_503del (p.Pro161_Ala168del)
 gnomAD v4
11g.2884964_2885035delCA934495684CDKN1Cn.142+609_142+680del
c.255+177_255+248del (n.255+177_255+248del)
c.465_536del (p.Pro156_Ala179del)
c.432_503del (p.Pro145_Ala168del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884955C>ACA379146511CDKN1Cn.142+679G>T
c.255+247G>T (n.255+247G>T)
c.535G>T (p.Ala179Ser)
c.502G>T (p.Ala168Ser)
 gnomAD v4
11g.2884955C>GCA379146513CDKN1Cn.142+679G>C
c.255+247G>C (n.255+247G>C)
c.535G>C (p.Ala179Pro)
c.502G>C (p.Ala168Pro)
11g.2884955C>TCA379146512CDKN1Cn.142+679G>A
c.255+247G>A (n.255+247G>A)
c.535G>A (p.Ala179Thr)
c.502G>A (p.Ala168Thr)
 gnomAD v4
11g.2884957_2884962dupCA2612014928CDKN1Cn.142+674_142+679dup
c.255+242_255+247dup (n.255+242_255+247dup)
c.530_535dup (p.Leu178_Ala179insValLeu)
c.497_502dup (p.Leu167_Ala168insValLeu)
 ClinVar gnomAD v4
11g.2884957_2884998delCA2612014929CDKN1Cn.142+638_142+679del
c.255+206_255+247del (n.255+206_255+247del)
c.494_535del (p.Val165_Leu178del)
c.461_502del (p.Val154_Leu167del)
 gnomAD v4
11g.2884956C>ACA472832692CDKN1Cn.142+678G>T
c.255+246G>T (n.255+246G>T)
c.534G>T (p.Leu178=)
c.501G>T (p.Leu167=)
 gnomAD v4
11g.2884956C>GCA472832694CDKN1Cn.142+678G>C
c.255+246G>C (n.255+246G>C)
c.534G>C (p.Leu178=)
c.501G>C (p.Leu167=)
 ClinVar dbSNP
11g.2884956C>TCA472832695CDKN1Cn.142+678G>A
c.255+246G>A (n.255+246G>A)
c.534G>A (p.Leu178=)
c.501G>A (p.Leu167=)
 gnomAD v4
11g.2884957A=CA1948368523CDKN1Cn.142+677T=
c.255+245T= (n.255+245T=)
c.533T= (p.Leu178=)
c.500T= (p.Leu167=)
11g.2884957A>CCA379146514CDKN1Cn.142+677T>G
c.255+245T>G (n.255+245T>G)
c.533T>G (p.Leu178Arg)
c.500T>G (p.Leu167Arg)
 gnomAD v4
11g.2884957A>GCA16613545CDKN1Cn.142+677T>C
c.255+245T>C (n.255+245T>C)
c.533T>C (p.Leu178Pro)
c.500T>C (p.Leu167Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884957A>TCA379146515CDKN1Cn.142+677T>A
c.255+245T>A (n.255+245T>A)
c.533T>A (p.Leu178Gln)
c.500T>A (p.Leu167Gln)
 ClinVar dbSNP gnomAD v4
11g.2884957_2884958delinsGCCA2580082675CDKN1Cn.142+676_142+677delinsGC
c.255+244_255+245delinsGC (n.255+244_255+245delinsGC)
c.532_533delinsGC (p.Leu178Ala)
c.499_500delinsGC (p.Leu167Ala)
 ClinVar
11g.2884957_2884964delinsGGGGCCAGCA2740093584CDKN1Cn.142+670_142+677delinsCTGGCCCC
c.255+238_255+245delinsCTGGCCCC (n.255+238_255+245delinsCTGGCCCC)
c.526_533delinsCTGGCCCC (p.Ala176_Leu178delinsLeuAlaPro)
c.493_500delinsCTGGCCCC (p.Ala165_Leu167delinsLeuAlaPro)
 ClinVar
11g.2884958G>ACA472832702CDKN1Cn.142+676C>T
c.255+244C>T (n.255+244C>T)
c.532C>T (p.Leu178=)
c.499C>T (p.Leu167=)
 gnomAD v4
11g.2884958G>CCA379146516CDKN1Cn.142+676C>G
c.255+244C>G (n.255+244C>G)
c.532C>G (p.Leu178Val)
c.499C>G (p.Leu167Val)
11g.2884958G>TCA379146517CDKN1Cn.142+676C>A
c.255+244C>A (n.255+244C>A)
c.532C>A (p.Leu178Met)
c.499C>A (p.Leu167Met)
 gnomAD v4
11g.2884958_2884964delinsGGACCGCCA1948368524CDKN1Cn.142+670_142+676delinsGCGGTCC
c.255+238_255+244delinsGCGGTCC (n.255+238_255+244delinsGCGGTCC)
c.526_532delinsGCGGTCC (p.Ala176=)
c.493_499delinsGCGGTCC (p.Ala165=)
11g.2884959G>ACA472832706CDKN1Cn.142+675C>T
c.255+243C>T (n.255+243C>T)
c.531C>T (p.Val177=)
c.498C>T (p.Val166=)
 gnomAD v4
11g.2884959G>CCA472832709CDKN1Cn.142+675C>G
c.255+243C>G (n.255+243C>G)
c.531C>G (p.Val177=)
c.498C>G (p.Val166=)
 gnomAD v4
11g.2884959G>TCA472832711CDKN1Cn.142+675C>A
c.255+243C>A (n.255+243C>A)
c.531C>A (p.Val177=)
c.498C>A (p.Val166=)
 gnomAD v4
11g.2884961_2884962insGGCGACCA2612014939CDKN1Cn.142+675_142+676insGCCGTC
c.255+243_255+244insGCCGTC (n.255+243_255+244insGCCGTC)
c.531_532insGCCGTC (p.Val177_Leu178insAlaVal)
c.498_499insGCCGTC (p.Val166_Leu167insAlaVal)
 gnomAD v4
11g.2884970_2884975dupCA597432654CDKN1Cn.142+670_142+675dup
c.255+238_255+243dup (n.255+238_255+243dup)
c.526_531dup (p.Val177_Leu178insAlaVal)
c.493_498dup (p.Val166_Leu167insAlaVal)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884970_2884975delCA16613297CDKN1Cn.142+670_142+675del
c.255+238_255+243del (n.255+238_255+243del)
c.526_531del (p.Ala176_Val177del)
c.493_498del (p.Ala165_Val166del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884960A=CA1948368526CDKN1Cn.142+674T=
c.255+242T= (n.255+242T=)
c.530T= (p.Val177=)
c.497T= (p.Val166=)
11g.2884960A>CCA379146518CDKN1Cn.142+674T>G
c.255+242T>G (n.255+242T>G)
c.530T>G (p.Val177Gly)
c.497T>G (p.Val166Gly)
11g.2884960A>GCA379146519CDKN1Cn.142+674T>C
c.255+242T>C (n.255+242T>C)
c.530T>C (p.Val177Ala)
c.497T>C (p.Val166Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884960A>TCA379146520CDKN1Cn.142+674T>A
c.255+242T>A (n.255+242T>A)
c.530T>A (p.Val177Asp)
c.497T>A (p.Val166Asp)
 gnomAD v4
11g.2884960_2884978delinsACCGCGACCGCGACCGGAGCA1948368525CDKN1Cn.142+656_142+674delinsCTCCGGTCGCGGTCGCGGT
c.255+224_255+242delinsCTCCGGTCGCGGTCGCGGT (n.255+224_255+242delinsCTCCGGTCGCGGTCGCGGT)
c.512_530delinsCTCCGGTCGCGGTCGCGGT (p.Ala171=)
c.479_497delinsCTCCGGTCGCGGTCGCGGT (p.Ala160=)
11g.2884961C>ACA379146521CDKN1Cn.142+673G>T
c.255+241G>T (n.255+241G>T)
c.529G>T (p.Val177Phe)
c.496G>T (p.Val166Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2884961C=CA1948368527CDKN1Cn.142+673G=
c.255+241G= (n.255+241G=)
c.529G= (p.Val177=)
c.496G= (p.Val166=)
11g.2884961C>GCA379146522CDKN1Cn.142+673G>C
c.255+241G>C (n.255+241G>C)
c.529G>C (p.Val177Leu)
c.496G>C (p.Val166Leu)
11g.2884961C>TCA16613549CDKN1Cn.142+673G>A
c.255+241G>A (n.255+241G>A)
c.529G>A (p.Val177Ile)
c.496G>A (p.Val166Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884970_2884987dupCA2580082677CDKN1Cn.142+656_142+673dup
c.255+224_255+241dup (n.255+224_255+241dup)
c.512_529dup (p.Ala176_Val177insAlaProValAlaValAla)
c.479_496dup (p.Ala165_Val166insAlaProValAlaValAla)
 ClinVar
11g.2884970_2884987delCA16613299CDKN1Cn.142+656_142+673del
c.255+224_255+241del (n.255+224_255+241del)
c.512_529del (p.Ala171_Ala176del)
c.479_496del (p.Ala160_Ala165del)
 ClinVar dbSNP gnomAD v4
11g.2884970_2884999delCA2573145980CDKN1Cn.142+644_142+673del
c.255+212_255+241del (n.255+212_255+241del)
c.500_529del (p.Ala167_Ala176del)
c.467_496del (p.Ala156_Ala165del)
 ClinVar dbSNP gnomAD v4
11g.2884962C>ACA472832723CDKN1Cn.142+672G>T
c.255+240G>T (n.255+240G>T)
c.528G>T (p.Ala176=)
c.495G>T (p.Ala165=)
 ClinVar dbSNP gnomAD v4
11g.2884962C=CA1948368528CDKN1Cn.142+672G=
c.255+240G= (n.255+240G=)
c.528G= (p.Ala176=)
c.495G= (p.Ala165=)
11g.2884962C>GCA200276CDKN1Cn.142+672G>C
c.255+240G>C (n.255+240G>C)
c.528G>C (p.Ala176=)
c.495G>C (p.Ala165=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2884962C>TCA472832721CDKN1Cn.142+672G>A
c.255+240G>A (n.255+240G>A)
c.528G>A (p.Ala176=)
c.495G>A (p.Ala165=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884963G>ACA379146525CDKN1Cn.142+671C>T
c.255+239C>T (n.255+239C>T)
c.527C>T (p.Ala176Val)
c.494C>T (p.Ala165Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884963G>CCA379146524CDKN1Cn.142+671C>G
c.255+239C>G (n.255+239C>G)
c.527C>G (p.Ala176Gly)
c.494C>G (p.Ala165Gly)
 gnomAD v4
11g.2884963G=CA1948368529CDKN1Cn.142+671C=
c.255+239C= (n.255+239C=)
c.527C= (p.Ala176=)
c.494C= (p.Ala165=)
11g.2884963G>TCA379146523CDKN1Cn.142+671C>A
c.255+239C>A (n.255+239C>A)
c.527C>A (p.Ala176Glu)
c.494C>A (p.Ala165Glu)
 gnomAD v4
11g.2884963_2884964insGGGCA2612014981CDKN1Cn.142+671_142+672insCCC
c.255+239_255+240insCCC (n.255+239_255+240insCCC)
c.527_528insCCC (p.Ala176_Val177insPro)
c.494_495insCCC (p.Ala165_Val166insPro)
 gnomAD v4
11g.2884963_2884964delinsAGCA658797578CDKN1Cn.142+670_142+671delinsCT
c.255+238_255+239delinsCT (n.255+238_255+239delinsCT)
c.526_527delinsCT (p.Ala176Leu)
c.493_494delinsCT (p.Ala165Leu)
 ClinVar dbSNP
11g.2884963_2884964delinsGCCA1948368530CDKN1Cn.142+670_142+671delinsGC
c.255+238_255+239delinsGC (n.255+238_255+239delinsGC)
c.526_527delinsGC (p.Ala176=)
c.493_494delinsGC (p.Ala165=)
11g.2884964C>ACA379146526CDKN1Cn.142+670G>T
c.255+238G>T (n.255+238G>T)
c.526G>T (p.Ala176Ser)
c.493G>T (p.Ala165Ser)
 gnomAD v4
11g.2884964C=CA1948368531CDKN1Cn.142+670G=
c.255+238G= (n.255+238G=)
c.526G= (p.Ala176=)
c.493G= (p.Ala165=)
11g.2884964C>GCA379146527CDKN1Cn.142+670G>C
c.255+238G>C (n.255+238G>C)
c.526G>C (p.Ala176Pro)
c.493G>C (p.Ala165Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884964C>TCA379146528CDKN1Cn.142+670G>A
c.255+238G>A (n.255+238G>A)
c.526G>A (p.Ala176Thr)
c.493G>A (p.Ala165Thr)
 gnomAD v4
11g.2884964_2884965insCAGCA2612014991CDKN1Cn.142+669_142+670insCTG
c.255+237_255+238insCTG (n.255+237_255+238insCTG)
c.525_526insCTG (p.Val175_Ala176insLeu)
c.492_493insCTG (p.Val164_Ala165insLeu)
 gnomAD v4
11g.2884965G>ACA472832731CDKN1Cn.142+669C>T
c.255+237C>T (n.255+237C>T)
c.525C>T (p.Val175=)
c.492C>T (p.Val164=)
 ClinVar dbSNP gnomAD v4
11g.2884965G>CCA10582905CDKN1Cn.142+669C>G
c.255+237C>G (n.255+237C>G)
c.525C>G (p.Val175=)
c.492C>G (p.Val164=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884965G=CA1948368532CDKN1Cn.142+669C=
c.255+237C= (n.255+237C=)
c.525C= (p.Val175=)
c.492C= (p.Val164=)
11g.2884965G>TCA472832735CDKN1Cn.142+669C>A
c.255+237C>A (n.255+237C>A)
c.525C>A (p.Val175=)
c.492C>A (p.Val164=)
 dbSNP gnomAD v4
11g.2884965_2884977delinsGACCGCGACCGGACA1948368534CDKN1Cn.142+657_142+669delinsTCCGGTCGCGGTC
c.255+225_255+237delinsTCCGGTCGCGGTC (n.255+225_255+237delinsTCCGGTCGCGGTC)
c.513_525delinsTCCGGTCGCGGTC (p.Ala171=)
c.480_492delinsTCCGGTCGCGGTC (p.Ala160=)
11g.2884965_2884989delinsGACCGCGACCGGAGCCGCGACCGGACA1948368533CDKN1Cn.142+645_142+669delinsTCCGGTCGCGGCTCCGGTCGCGGTC
c.255+213_255+237delinsTCCGGTCGCGGCTCCGGTCGCGGTC (n.255+213_255+237delinsTCCGGTCGCGGCTCCGGTCGCGGTC)
c.501_525delinsTCCGGTCGCGGCTCCGGTCGCGGTC (p.Ala167=)
c.468_492delinsTCCGGTCGCGGCTCCGGTCGCGGTC (p.Ala156=)
11g.2884966A=CA1948368535CDKN1Cn.142+668T=
c.255+236T= (n.255+236T=)
c.524T= (p.Val175=)
c.491T= (p.Val164=)
11g.2884966A>CCA379146529CDKN1Cn.142+668T>G
c.255+236T>G (n.255+236T>G)
c.524T>G (p.Val175Gly)
c.491T>G (p.Val164Gly)
 gnomAD v4
11g.2884966A>GCA379146530CDKN1Cn.142+668T>C
c.255+236T>C (n.255+236T>C)
c.524T>C (p.Val175Ala)
c.491T>C (p.Val164Ala)
 ClinVar dbSNP gnomAD v4
11g.2884966A>TCA379146531CDKN1Cn.142+668T>A
c.255+236T>A (n.255+236T>A)
c.524T>A (p.Val175Asp)
c.491T>A (p.Val164Asp)
 gnomAD v4
11g.2884966_2884977delCA675284736CDKN1Cn.142+657_142+668del
c.255+225_255+236del (n.255+225_255+236del)
c.513_524del (p.Pro172_Val175del)
c.480_491del (p.Pro161_Val164del)
 dbSNP
11g.2884966_2884978delinsACCGCGACCGGAGCA2497029247CDKN1Cn.142+656_142+668delinsCTCCGGTCGCGGT
c.255+224_255+236delinsCTCCGGTCGCGGT (n.255+224_255+236delinsCTCCGGTCGCGGT)
c.512_524delinsCTCCGGTCGCGGT (p.Ala171=)
c.479_491delinsCTCCGGTCGCGGT (p.Ala160=)
11g.2884966_2884989delCA675284735CDKN1Cn.142+645_142+668del
c.255+213_255+236del (n.255+213_255+236del)
c.501_524del (p.Pro168_Val175del)
c.468_491del (p.Pro157_Val164del)
 dbSNP
11g.2884966_2884990delinsACCGCGACCGGAGCCGCGACCGGAGCA1948368536CDKN1Cn.142+644_142+668delinsCTCCGGTCGCGGCTCCGGTCGCGGT
c.255+212_255+236delinsCTCCGGTCGCGGCTCCGGTCGCGGT (n.255+212_255+236delinsCTCCGGTCGCGGCTCCGGTCGCGGT)
c.500_524delinsCTCCGGTCGCGGCTCCGGTCGCGGT (p.Ala167=)
c.467_491delinsCTCCGGTCGCGGCTCCGGTCGCGGT (p.Ala156=)
11g.2884966_2884967insGCA2499220899CDKN1Cn.142+667_142+668insC
c.255+235_255+236insC (n.255+235_255+236insC)
c.523_524insC (p.Val175AlafsTer?)
c.490_491insC (p.Val164AlafsTer?)
 ClinVar dbSNP
11g.2884967C>ACA379146532CDKN1Cn.142+667G>T
c.255+235G>T (n.255+235G>T)
c.523G>T (p.Val175Phe)
c.490G>T (p.Val164Phe)
 gnomAD v4
11g.2884967C>GCA379146533CDKN1Cn.142+667G>C
c.255+235G>C (n.255+235G>C)
c.523G>C (p.Val175Leu)
c.490G>C (p.Val164Leu)
11g.2884967C>TCA379146534CDKN1Cn.142+667G>A
c.255+235G>A (n.255+235G>A)
c.523G>A (p.Val175Ile)
c.490G>A (p.Val164Ile)
 gnomAD v4
11g.2884969_2884970insGAGCCGCA2573145981CDKN1Cn.142+667_142+668insCTCCGG
c.255+235_255+236insCTCCGG (n.255+235_255+236insCTCCGG)
c.523_524insCTCCGG (p.Ala174_Val175insAlaPro)
c.490_491insCTCCGG (p.Ala163_Val164insAlaPro)
 ClinVar dbSNP gnomAD v4
11g.2884967_2884971delCA2612015011CDKN1Cn.142+663_142+667del
c.255+231_255+235del (n.255+231_255+235del)
c.519_523del (p.Ala174ArgfsTer?)
c.486_490del (p.Ala163ArgfsTer?)
 gnomAD v4
11g.2884994_2885005dupCA597432656CDKN1Cn.142+656_142+667dup
c.255+224_255+235dup (n.255+224_255+235dup)
c.512_523dup (p.Ala174_Val175insAlaProValAla)
c.479_490dup (p.Ala163_Val164insAlaProValAla)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884982_2885005dupCA597432655CDKN1Cn.142+644_142+667dup
c.255+212_255+235dup (n.255+212_255+235dup)
c.500_523dup (p.Ala174_Val175insAlaProValAlaAlaProValAla)
c.467_490dup (p.Ala163_Val164insAlaProValAlaAlaProValAla)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884994_2885005delCA200279CDKN1Cn.142+656_142+667del
c.255+224_255+235del (n.255+224_255+235del)
c.512_523del (p.Ala171_Ala174del)
c.479_490del (p.Ala160_Ala163del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.2884982_2885005delCA658656120CDKN1Cn.142+644_142+667del
c.255+212_255+235del (n.255+212_255+235del)
c.500_523del (p.Ala167_Ala174del)
c.467_490del (p.Ala156_Ala163del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884968C>ACA472832746CDKN1Cn.142+666G>T
c.255+234G>T (n.255+234G>T)
c.522G>T (p.Ala174=)
c.489G>T (p.Ala163=)
 gnomAD v4
11g.2884968C>GCA472832748CDKN1Cn.142+666G>C
c.255+234G>C (n.255+234G>C)
c.522G>C (p.Ala174=)
c.489G>C (p.Ala163=)
 ClinVar gnomAD v4
11g.2884968C>TCA472832750CDKN1Cn.142+666G>A
c.255+234G>A (n.255+234G>A)
c.522G>A (p.Ala174=)
c.489G>A (p.Ala163=)
 gnomAD v4
11g.2884970_2884971delCA2612015022CDKN1Cn.142+665_142+666del
c.255+233_255+234del (n.255+233_255+234del)
c.521_522del (p.Ala174GlyfsTer?)
c.488_489del (p.Ala163GlyfsTer?)
 gnomAD v4
11g.2884969G>ACA379146537CDKN1Cn.142+665C>T
c.255+233C>T (n.255+233C>T)
c.521C>T (p.Ala174Val)
c.488C>T (p.Ala163Val)
 dbSNP gnomAD v4
11g.2884969G>CCA379146536CDKN1Cn.142+665C>G
c.255+233C>G (n.255+233C>G)
c.521C>G (p.Ala174Gly)
c.488C>G (p.Ala163Gly)
11g.2884969G>TCA379146535CDKN1Cn.142+665C>A
c.255+233C>A (n.255+233C>A)
c.521C>A (p.Ala174Glu)
c.488C>A (p.Ala163Glu)
11g.2884969_2884970delinsAGCA2573145982CDKN1Cn.142+664_142+665delinsCT
c.255+232_255+233delinsCT (n.255+232_255+233delinsCT)
c.520_521delinsCT (p.Ala174Leu)
c.487_488delinsCT (p.Ala163Leu)
 dbSNP
11g.2884969_2884971delCA2612015026CDKN1Cn.142+663_142+665del
c.255+231_255+233del (n.255+231_255+233del)
c.519_521del (p.Ala174del)
c.486_488del (p.Ala163del)
 gnomAD v4
11g.2884969_2884981delCA2574728702CDKN1Cn.142+653_142+665del
c.255+221_255+233del (n.255+221_255+233del)
c.509_521del (p.Ala170GlyfsTer?)
c.476_488del (p.Ala159GlyfsTer?)
11g.2884970C>ACA379146538CDKN1Cn.142+664G>T
c.255+232G>T (n.255+232G>T)
c.520G>T (p.Ala174Ser)
c.487G>T (p.Ala163Ser)
 gnomAD v4
11g.2884970C>GCA379146540CDKN1Cn.142+664G>C
c.255+232G>C (n.255+232G>C)
c.520G>C (p.Ala174Pro)
c.487G>C (p.Ala163Pro)
11g.2884970C>TCA379146539CDKN1Cn.142+664G>A
c.255+232G>A (n.255+232G>A)
c.520G>A (p.Ala174Thr)
c.487G>A (p.Ala163Thr)
 gnomAD v4
11g.2884971delCA2612015030CDKN1Cn.142+663del
c.255+231del (n.255+231del)
c.519del (p.Ala174ArgfsTer?)
c.486del (p.Ala163ArgfsTer?)
 gnomAD v4
11g.2884971G>ACA472832760CDKN1Cn.142+663C>T
c.255+231C>T (n.255+231C>T)
c.519C>T (p.Val173=)
c.486C>T (p.Val162=)
11g.2884971G>CCA472832762CDKN1Cn.142+663C>G
c.255+231C>G (n.255+231C>G)
c.519C>G (p.Val173=)
c.486C>G (p.Val162=)
 ClinVar dbSNP
11g.2884971G=CA1948368537CDKN1Cn.142+663C=
c.255+231C= (n.255+231C=)
c.519C= (p.Val173=)
c.486C= (p.Val162=)
11g.2884971G>TCA216367315CDKN1Cn.142+663C>A
c.255+231C>A (n.255+231C>A)
c.519C>A (p.Val173=)
c.486C>A (p.Val162=)
 dbSNP gnomAD v4
11g.2884971_2884988delCA2612015032CDKN1Cn.142+646_142+663del
c.255+214_255+231del (n.255+214_255+231del)
c.502_519del (p.Pro168_Val173del)
c.469_486del (p.Pro157_Val162del)
 gnomAD v4
11g.2884972A=CA1948368539CDKN1Cn.142+662T=
c.255+230T= (n.255+230T=)
c.518T= (p.Val173=)
c.485T= (p.Val162=)
11g.2884972A>CCA379146541CDKN1Cn.142+662T>G
c.255+230T>G (n.255+230T>G)
c.518T>G (p.Val173Gly)
c.485T>G (p.Val162Gly)
 dbSNP gnomAD v4
11g.2884972A>GCA379146542CDKN1Cn.142+662T>C
c.255+230T>C (n.255+230T>C)
c.518T>C (p.Val173Ala)
c.485T>C (p.Val162Ala)
 ClinVar dbSNP gnomAD v4
11g.2884972A>TCA379146543CDKN1Cn.142+662T>A
c.255+230T>A (n.255+230T>A)
c.518T>A (p.Val173Asp)
c.485T>A (p.Val162Asp)
 dbSNP
11g.2884972_2884978delinsACCGGAGCA1948368540CDKN1Cn.142+656_142+662delinsCTCCGGT
c.255+224_255+230delinsCTCCGGT (n.255+224_255+230delinsCTCCGGT)
c.512_518delinsCTCCGGT (p.Ala171=)
c.479_485delinsCTCCGGT (p.Ala160=)
11g.2884972_2885008delinsACCGGAGCCGCGACCGGAGCCGCGACCGGAGCCGGAGCA1948368538CDKN1Cn.142+626_142+662delinsCTCCGGCTCCGGTCGCGGCTCCGGTCGCGGCTCCGGT
c.255+194_255+230delinsCTCCGGCTCCGGTCGCGGCTCCGGTCGCGGCTCCGGT (n.255+194_255+230delinsCTCCGGCTCCGGTCGCGGCTCCGGTCGCGGCTCCGGT)
c.482_518delinsCTCCGGCTCCGGTCGCGGCTCCGGTCGCGGCTCCGGT (p.Ala161=)
c.449_485delinsCTCCGGCTCCGGTCGCGGCTCCGGTCGCGGCTCCGGT (p.Ala150=)
11g.2884973C>ACA379146544CDKN1Cn.142+661G>T
c.255+229G>T (n.255+229G>T)
c.517G>T (p.Val173Phe)
c.484G>T (p.Val162Phe)
 gnomAD v4
11g.2884973C>GCA379146545CDKN1Cn.142+661G>C
c.255+229G>C (n.255+229G>C)
c.517G>C (p.Val173Leu)
c.484G>C (p.Val162Leu)
11g.2884973C>TCA379146546CDKN1Cn.142+661G>A
c.255+229G>A (n.255+229G>A)
c.517G>A (p.Val173Ile)
c.484G>A (p.Val162Ile)
 gnomAD v4
11g.2884974delCA2612015052CDKN1Cn.142+661del
c.255+229del (n.255+229del)
c.517del (p.Val173SerfsTer?)
c.484del (p.Val162SerfsTer?)
 gnomAD v4
11g.2884973_2884976delCA2612015045CDKN1Cn.142+658_142+661del
c.255+226_255+229del (n.255+226_255+229del)
c.514_517del (p.Pro172SerfsTer?)
c.481_484del (p.Pro161SerfsTer?)
 gnomAD v4
11g.2884974_2884980delCA2612015050CDKN1Cn.142+655_142+661del
c.255+223_255+229del (n.255+223_255+229del)
c.511_517del (p.Ala171SerfsTer?)
c.478_484del (p.Ala160SerfsTer?)
 gnomAD v4
11g.2884976_2884981delCA379146547CDKN1Cn.142+656_142+661del
c.255+224_255+229del (n.255+224_255+229del)
c.512_517del (p.Ala171_Pro172del)
c.479_484del (p.Ala160_Pro161del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884974_2884982delCA2612015049CDKN1Cn.142+653_142+661del
c.255+221_255+229del (n.255+221_255+229del)
c.509_517del (p.Ala170_Pro172del)
c.476_484del (p.Ala159_Pro161del)
 gnomAD v4
11g.2884973_2884983delCA2612015048CDKN1Cn.142+651_142+661del
c.255+219_255+229del (n.255+219_255+229del)
c.507_517del (p.Ala170ArgfsTer?)
c.474_484del (p.Ala159ArgfsTer?)
 gnomAD v4
11g.2884982_2885011delCA2612015047CDKN1Cn.142+632_142+661del
c.255+200_255+229del (n.255+200_255+229del)
c.488_517del (p.Ala163_Pro172del)
c.455_484del (p.Ala152_Pro161del)
 gnomAD v4
11g.2884977_2885012delCA1948368541CDKN1Cn.142+626_142+661del
c.255+194_255+229del (n.255+194_255+229del)
c.482_517del (p.Ala161_Pro172del)
c.449_484del (p.Ala150_Pro161del)
 ClinVar dbSNP
11g.2884974C>ACA472832774CDKN1Cn.142+660G>T
c.255+228G>T (n.255+228G>T)
c.516G>T (p.Pro172=)
c.483G>T (p.Pro161=)
 gnomAD v4
11g.2884974C>GCA472832777CDKN1Cn.142+660G>C
c.255+228G>C (n.255+228G>C)
c.516G>C (p.Pro172=)
c.483G>C (p.Pro161=)
11g.2884974C>TCA472832779CDKN1Cn.142+660G>A
c.255+228G>A (n.255+228G>A)
c.516G>A (p.Pro172=)
c.483G>A (p.Pro161=)
 gnomAD v4
11g.2884975G>ACA379146548CDKN1Cn.142+659C>T
c.255+227C>T (n.255+227C>T)
c.515C>T (p.Pro172Leu)
c.482C>T (p.Pro161Leu)
 ClinVar dbSNP gnomAD v4
11g.2884975G>CCA379146549CDKN1Cn.142+659C>G
c.255+227C>G (n.255+227C>G)
c.515C>G (p.Pro172Arg)
c.482C>G (p.Pro161Arg)
11g.2884975G>TCA379146550CDKN1Cn.142+659C>A
c.255+227C>A (n.255+227C>A)
c.515C>A (p.Pro172Gln)
c.482C>A (p.Pro161Gln)
 gnomAD v4
11g.2884975_2884976delCA2790205569CDKN1Cn.142+658_142+659del
c.255+226_255+227del (n.255+226_255+227del)
c.514_515del (p.Pro172GlyfsTer?)
c.481_482del (p.Pro161GlyfsTer?)
11g.2884976delCA2590572698CDKN1Cn.142+659del
c.255+227del (n.255+227del)
c.515del (p.Pro172ArgfsTer?)
c.482del (p.Pro161ArgfsTer?)
 gnomAD v3 gnomAD v4
11g.2884976G>ACA379146553CDKN1Cn.142+658C>T
c.255+226C>T (n.255+226C>T)
c.514C>T (p.Pro172Ser)
c.481C>T (p.Pro161Ser)
11g.2884976G>CCA379146552CDKN1Cn.142+658C>G
c.255+226C>G (n.255+226C>G)
c.514C>G (p.Pro172Ala)
c.481C>G (p.Pro161Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884976G=CA1948368542CDKN1Cn.142+658C=
c.255+226C= (n.255+226C=)
c.514C= (p.Pro172=)
c.481C= (p.Pro161=)
11g.2884976G>TCA379146551CDKN1Cn.142+658C>A
c.255+226C>A (n.255+226C>A)
c.514C>A (p.Pro172Thr)
c.481C>A (p.Pro161Thr)
 ClinVar dbSNP
11g.2884976_2884991delCA2695213096CDKN1Cn.142+643_142+658del
c.255+211_255+226del (n.255+211_255+226del)
c.499_514del (p.Ala167ArgfsTer?)
c.466_481del (p.Ala156ArgfsTer?)
11g.2884977delCA2612015073CDKN1Cn.142+657del
c.255+225del (n.255+225del)
c.513del (p.Pro172ArgfsTer?)
c.480del (p.Pro161ArgfsTer?)
 gnomAD v4
11g.2884977A=CA1948368543CDKN1Cn.142+657T=
c.255+225T= (n.255+225T=)
c.513T= (p.Ala171=)
c.480T= (p.Ala160=)
11g.2884977A>CCA472832789CDKN1Cn.142+657T>G
c.255+225T>G (n.255+225T>G)
c.513T>G (p.Ala171=)
c.480T>G (p.Ala160=)
 ClinVar dbSNP gnomAD v4
11g.2884977A>GCA472832791CDKN1Cn.142+657T>C
c.255+225T>C (n.255+225T>C)
c.513T>C (p.Ala171=)
c.480T>C (p.Ala160=)
 ClinVar dbSNP gnomAD v4
11g.2884977A>TCA472832793CDKN1Cn.142+657T>A
c.255+225T>A (n.255+225T>A)
c.513T>A (p.Ala171=)
c.480T>A (p.Ala160=)
11g.2884978G>ACA379146554CDKN1Cn.142+656C>T
c.255+224C>T (n.255+224C>T)
c.512C>T (p.Ala171Val)
c.479C>T (p.Ala160Val)
 ClinVar dbSNP gnomAD v4
11g.2884978G>CCA379146555CDKN1Cn.142+656C>G
c.255+224C>G (n.255+224C>G)
c.512C>G (p.Ala171Gly)
c.479C>G (p.Ala160Gly)
11g.2884978G=CA1948368544CDKN1Cn.142+656C=
c.255+224C= (n.255+224C=)
c.512C= (p.Ala171=)
c.479C= (p.Ala160=)
11g.2884978G>TCA379146556CDKN1Cn.142+656C>A
c.255+224C>A (n.255+224C>A)
c.512C>A (p.Ala171Asp)
c.479C>A (p.Ala160Asp)
 gnomAD v4
11g.2884978_2884983delCA2612015084CDKN1Cn.142+651_142+656del
c.255+219_255+224del (n.255+219_255+224del)
c.507_512del (p.Ala170_Ala171del)
c.474_479del (p.Ala159_Ala160del)
 gnomAD v4
11g.2884979_2884983delCA2612015082CDKN1Cn.142+652_142+656del
c.255+220_255+224del (n.255+220_255+224del)
c.508_512del (p.Ala170SerfsTer?)
c.475_479del (p.Ala159SerfsTer?)
 gnomAD v4
11g.2884978_2884985delCA2612015085CDKN1Cn.142+649_142+656del
c.255+217_255+224del (n.255+217_255+224del)
c.505_512del (p.Val169SerfsTer?)
c.472_479del (p.Val158SerfsTer?)
 gnomAD v4
11g.2884978_2884988delCA2590572702CDKN1Cn.142+646_142+656del
c.255+214_255+224del (n.255+214_255+224del)
c.502_512del (p.Pro168SerfsTer?)
c.469_479del (p.Pro157SerfsTer?)
 gnomAD v3 gnomAD v4
11g.2884978_2884979insGACCGCGACA1948368545CDKN1Cn.142+655_142+656insTCGCGGTC
c.255+223_255+224insTCGCGGTC (n.255+223_255+224insTCGCGGTC)
c.511_512insTCGCGGTC (p.Ala171ValfsTer?)
c.478_479insTCGCGGTC (p.Ala160ValfsTer?)
 ClinVar dbSNP
11g.2884979C>ACA379146557CDKN1Cn.142+655G>T
c.255+223G>T (n.255+223G>T)
c.511G>T (p.Ala171Ser)
c.478G>T (p.Ala160Ser)
 gnomAD v4
11g.2884979C>GCA379146558CDKN1Cn.142+655G>C
c.255+223G>C (n.255+223G>C)
c.511G>C (p.Ala171Pro)
c.478G>C (p.Ala160Pro)
11g.2884979C>TCA379146559CDKN1Cn.142+655G>A
c.255+223G>A (n.255+223G>A)
c.511G>A (p.Ala171Thr)
c.478G>A (p.Ala160Thr)
 gnomAD v4
11g.2884979_2884980delCA2590572703CDKN1Cn.142+654_142+655del
c.255+222_255+223del (n.255+222_255+223del)
c.510_511del (p.Ala171SerfsTer?)
c.477_478del (p.Ala160SerfsTer?)
 gnomAD v3 gnomAD v4
11g.2884980_2884981insAGGACCGCGACCCA2573145983CDKN1Cn.142+655_142+656insTCGCGGTCCTGG
c.255+223_255+224insTCGCGGTCCTGG (n.255+223_255+224insTCGCGGTCCTGG)
c.511_512insTCGCGGTCCTGG (p.Ala170_Ala171insValAlaValLeu)
c.478_479insTCGCGGTCCTGG (p.Ala159_Ala160insValAlaValLeu)
 dbSNP
11g.2884982_2884987delCA2499220900CDKN1Cn.142+650_142+655del
c.255+218_255+223del (n.255+218_255+223del)
c.506_511del (p.Val169_Ala170del)
c.473_478del (p.Val158_Ala159del)
 ClinVar dbSNP
11g.2884993_2884994insGAGCCGGGGCCGGGGCTGGGGCCAGGACCGCGACCGCGACCGGAGCCGCA2612015104CDKN1Cn.142+655_142+656insTCGCGGTCCTGGCCCCAGCCCCGGCCCCGGCTCCGGCTCCGGTCGCGG
c.255+223_255+224insTCGCGGTCCTGGCCCCAGCCCCGGCCCCGGCTCCGGCTCCGGTCGCGG (n.255+223_255+224insTCGCGGTCCTGGCCCCAGCCCCGGCCCCGGCTCCGGCTCCGGTCGCGG)
c.511_512insTCGCGGTCCTGGCCCCAGCCCCGGCCCCGGCTCCGGCTCCGGTCGCGG (p.Ala170_Ala171insValAlaValLeuAlaProAlaProAlaProAlaProAlaProValAla)
c.478_479insTCGCGGTCCTGGCCCCAGCCCCGGCCCCGGCTCCGGCTCCGGTCGCGG (p.Ala159_Ala160insValAlaValLeuAlaProAlaProAlaProAlaProAlaProValAla)
 gnomAD v4
11g.2884982_2884999delCA2612015106CDKN1Cn.142+638_142+655del
c.255+206_255+223del (n.255+206_255+223del)
c.494_511del (p.Val165_Ala170del)
c.461_478del (p.Val154_Ala159del)
 gnomAD v4
11g.2884980C>ACA472832803CDKN1Cn.142+654G>T
c.255+222G>T (n.255+222G>T)
c.510G>T (p.Ala170=)
c.477G>T (p.Ala159=)
 gnomAD v4
11g.2884980C>GCA472832805CDKN1Cn.142+654G>C
c.255+222G>C (n.255+222G>C)
c.510G>C (p.Ala170=)
c.477G>C (p.Ala159=)
11g.2884980C>TCA472832806CDKN1Cn.142+654G>A
c.255+222G>A (n.255+222G>A)
c.510G>A (p.Ala170=)
c.477G>A (p.Ala159=)
 ClinVar gnomAD v4
11g.2884980_2884983delinsCGCGCA1948368546CDKN1Cn.142+651_142+654delinsCGCG
c.255+219_255+222delinsCGCG (n.255+219_255+222delinsCGCG)
c.507_510delinsCGCG (p.Val169=)
c.474_477delinsCGCG (p.Val158=)
11g.2884982_2884983delCA2695201061CDKN1Cn.142+653_142+654del
c.255+221_255+222del (n.255+221_255+222del)
c.509_510del (p.Ala170GlyfsTer?)
c.476_477del (p.Ala159GlyfsTer?)
 ClinVar
11g.2884981G>ACA379146560CDKN1Cn.142+653C>T
c.255+221C>T (n.255+221C>T)
c.509C>T (p.Ala170Val)
c.476C>T (p.Ala159Val)
 gnomAD v4
11g.2884981G>CCA379146561CDKN1Cn.142+653C>G
c.255+221C>G (n.255+221C>G)
c.509C>G (p.Ala170Gly)
c.476C>G (p.Ala159Gly)
11g.2884981G>TCA379146562CDKN1Cn.142+653C>A
c.255+221C>A (n.255+221C>A)
c.509C>A (p.Ala170Glu)
c.476C>A (p.Ala159Glu)
 ClinVar gnomAD v4
11g.2884981_2884982delinsGCCA1948368547CDKN1Cn.142+652_142+653delinsGC
c.255+220_255+221delinsGC (n.255+220_255+221delinsGC)
c.508_509delinsGC (p.Ala170=)
c.475_476delinsGC (p.Ala159=)
11g.2884981_2884983delCA934495724CDKN1Cn.142+651_142+653del
c.255+219_255+221del (n.255+219_255+221del)
c.507_509del (p.Ala170del)
c.474_476del (p.Ala159del)
 dbSNP gnomAD v3 gnomAD v4
11g.2884982delCA934495728CDKN1Cn.142+652del
c.255+220del (n.255+220del)
c.508del (p.Ala170ArgfsTer?)
c.475del (p.Ala159ArgfsTer?)
 dbSNP gnomAD v3 gnomAD v4
11g.2884982C>ACA379146563CDKN1Cn.142+652G>T
c.255+220G>T (n.255+220G>T)
c.508G>T (p.Ala170Ser)
c.475G>T (p.Ala159Ser)
 gnomAD v4
11g.2884982C=CA1948368548CDKN1Cn.142+652G=
c.255+220G= (n.255+220G=)
c.508G= (p.Ala170=)
c.475G= (p.Ala159=)
11g.2884982C>GCA379146564CDKN1Cn.142+652G>C
c.255+220G>C (n.255+220G>C)
c.508G>C (p.Ala170Pro)
c.475G>C (p.Ala159Pro)
11g.2884982C>TCA379146565CDKN1Cn.142+652G>A
c.255+220G>A (n.255+220G>A)
c.508G>A (p.Ala170Thr)
c.475G>A (p.Ala159Thr)
 ClinVar dbSNP gnomAD v4
11g.2884984_2884993delCA2590572705CDKN1Cn.142+643_142+652del
c.255+211_255+220del (n.255+211_255+220del)
c.499_508del (p.Ala167ArgfsTer?)
c.466_475del (p.Ala156ArgfsTer?)
 gnomAD v3 gnomAD v4
11g.2884983delCA2612015159CDKN1Cn.142+651del
c.255+219del (n.255+219del)
c.507del (p.Ala170ArgfsTer?)
c.474del (p.Ala159ArgfsTer?)
 gnomAD v4
11g.2884983G>ACA472832816CDKN1Cn.142+651C>T
c.255+219C>T (n.255+219C>T)
c.507C>T (p.Val169=)
c.474C>T (p.Val158=)
 gnomAD v4
11g.2884983G>CCA472832821CDKN1Cn.142+651C>G
c.255+219C>G (n.255+219C>G)
c.507C>G (p.Val169=)
c.474C>G (p.Val158=)
 ClinVar dbSNP
11g.2884983G>TCA472832818CDKN1Cn.142+651C>A
c.255+219C>A (n.255+219C>A)
c.507C>A (p.Val169=)
c.474C>A (p.Val158=)
 ClinVar gnomAD v4
11g.2884983_2884994delinsGACCGGAGCCGCCA1948368549CDKN1Cn.142+640_142+651delinsGCGGCTCCGGTC
c.255+208_255+219delinsGCGGCTCCGGTC (n.255+208_255+219delinsGCGGCTCCGGTC)
c.496_507delinsGCGGCTCCGGTC (p.Ala166=)
c.463_474delinsGCGGCTCCGGTC (p.Ala155=)
11g.2884984delCA2612015166CDKN1Cn.142+650del
c.255+218del (n.255+218del)
c.506del (p.Val169AlafsTer?)
c.473del (p.Val158AlafsTer?)
 gnomAD v4
11g.2884984A>CCA379146568CDKN1Cn.142+650T>G
c.255+218T>G (n.255+218T>G)
c.506T>G (p.Val169Gly)
c.473T>G (p.Val158Gly)
 gnomAD v4
11g.2884984A>GCA379146567CDKN1Cn.142+650T>C
c.255+218T>C (n.255+218T>C)
c.506T>C (p.Val169Ala)
c.473T>C (p.Val158Ala)
 gnomAD v4
11g.2884984A>TCA379146566CDKN1Cn.142+650T>A
c.255+218T>A (n.255+218T>A)
c.506T>A (p.Val169Asp)
c.473T>A (p.Val158Asp)
11g.2884984_2884993delinsACCGGAGCCGCA1948368551CDKN1Cn.142+641_142+650delinsCGGCTCCGGT
c.255+209_255+218delinsCGGCTCCGGT (n.255+209_255+218delinsCGGCTCCGGT)
c.497_506delinsCGGCTCCGGT (p.Ala166=)
c.464_473delinsCGGCTCCGGT (p.Ala155=)
11g.2884984_2884994delCA934495730CDKN1Cn.142+640_142+650del
c.255+208_255+218del (n.255+208_255+218del)
c.496_506del (p.Ala166ArgfsTer?)
c.463_473del (p.Ala155ArgfsTer?)
 dbSNP gnomAD v3 gnomAD v4
11g.2884984_2885002delinsACCGGAGCCGCGACCGGAGCA1948368550CDKN1Cn.142+632_142+650delinsCTCCGGTCGCGGCTCCGGT
c.255+200_255+218delinsCTCCGGTCGCGGCTCCGGT (n.255+200_255+218delinsCTCCGGTCGCGGCTCCGGT)
c.488_506delinsCTCCGGTCGCGGCTCCGGT (p.Ala163=)
c.455_473delinsCTCCGGTCGCGGCTCCGGT (p.Ala152=)
11g.2884985C>ACA379146569CDKN1Cn.142+649G>T
c.255+217G>T (n.255+217G>T)
c.505G>T (p.Val169Phe)
c.472G>T (p.Val158Phe)
 gnomAD v4
11g.2884985C=CA1948368552CDKN1Cn.142+649G=
c.255+217G= (n.255+217G=)
c.505G= (p.Val169=)
c.472G= (p.Val158=)
11g.2884985C>GCA379146570CDKN1Cn.142+649G>C
c.255+217G>C (n.255+217G>C)
c.505G>C (p.Val169Leu)
c.472G>C (p.Val158Leu)
 gnomAD v4
11g.2884985C>TCA379146571CDKN1Cn.142+649G>A
c.255+217G>A (n.255+217G>A)
c.505G>A (p.Val169Ile)
c.472G>A (p.Val158Ile)
 ClinVar dbSNP gnomAD v4
11g.2884985_2884988delCA2612015192CDKN1Cn.142+646_142+649del
c.255+214_255+217del (n.255+214_255+217del)
c.502_505del (p.Pro168SerfsTer?)
c.469_472del (p.Pro157SerfsTer?)
 gnomAD v4
11g.2884986_2884992delCA2612015191CDKN1Cn.142+643_142+649del
c.255+211_255+217del (n.255+211_255+217del)
c.499_505del (p.Ala167SerfsTer?)
c.466_472del (p.Ala156SerfsTer?)
 gnomAD v4
11g.2884986_2884994delCA934495733CDKN1Cn.142+641_142+649del
c.255+209_255+217del (n.255+209_255+217del)
c.497_505del (p.Ala166_Pro168del)
c.464_472del (p.Ala155_Pro157del)
 dbSNP gnomAD v3 gnomAD v4
11g.2884985_2884995delCA2612015190CDKN1Cn.142+639_142+649del
c.255+207_255+217del (n.255+207_255+217del)
c.495_505del (p.Ala166ArgfsTer?)
c.462_472del (p.Ala155ArgfsTer?)
 gnomAD v4
11g.2884994_2885011delCA658797579CDKN1Cn.142+632_142+649del
c.255+200_255+217del (n.255+200_255+217del)
c.488_505del (p.Ala163_Pro168del)
c.455_472del (p.Ala152_Pro157del)
 ClinVar dbSNP gnomAD v4
11g.2884989_2885012delCA2741144307CDKN1Cn.142+626_142+649del
c.255+194_255+217del (n.255+194_255+217del)
c.482_505del (p.Ala161_Pro168del)
c.449_472del (p.Ala150_Pro157del)
11g.2884986C>ACA472832831CDKN1Cn.142+648G>T
c.255+216G>T (n.255+216G>T)
c.504G>T (p.Pro168=)
c.471G>T (p.Pro157=)
 ClinVar gnomAD v4
11g.2884986C>GCA472832832CDKN1Cn.142+648G>C
c.255+216G>C (n.255+216G>C)
c.504G>C (p.Pro168=)
c.471G>C (p.Pro157=)
11g.2884986C>TCA472832834CDKN1Cn.142+648G>A
c.255+216G>A (n.255+216G>A)
c.504G>A (p.Pro168=)
c.471G>A (p.Pro157=)
 ClinVar dbSNP gnomAD v4
11g.2884986_2884988delCA2612015203CDKN1Cn.142+646_142+648del
c.255+214_255+216del (n.255+214_255+216del)
c.502_504del (p.Pro168del)
c.469_471del (p.Pro157del)
 gnomAD v4
11g.2884987_2884997delCA2612015205CDKN1Cn.142+638_142+648del
c.255+206_255+216del (n.255+206_255+216del)
c.494_504del (p.Val165GlyfsTer?)
c.461_471del (p.Val154GlyfsTer?)
 gnomAD v4
11g.2884987G>ACA379146572CDKN1Cn.142+647C>T
c.255+215C>T (n.255+215C>T)
c.503C>T (p.Pro168Leu)
c.470C>T (p.Pro157Leu)
 ClinVar dbSNP gnomAD v4
11g.2884987G>CCA379146573CDKN1Cn.142+647C>G
c.255+215C>G (n.255+215C>G)
c.503C>G (p.Pro168Arg)
c.470C>G (p.Pro157Arg)
11g.2884987G>TCA379146574CDKN1Cn.142+647C>A
c.255+215C>A (n.255+215C>A)
c.503C>A (p.Pro168Gln)
c.470C>A (p.Pro157Gln)
 gnomAD v4
11g.2884987_2884988delCA2612015214CDKN1Cn.142+646_142+647del
c.255+214_255+215del (n.255+214_255+215del)
c.502_503del (p.Pro168GlyfsTer?)
c.469_470del (p.Pro157GlyfsTer?)
 gnomAD v4
11g.2884993_2885028delCA2612015215CDKN1Cn.142+612_142+647del
c.255+180_255+215del (n.255+180_255+215del)
c.468_503del (p.Ala157_Pro168del)
c.435_470del (p.Ala146_Pro157del)
 gnomAD v4
11g.2884987_2884988insCCA2790205571CDKN1Cn.142+646_142+647insG
c.255+214_255+215insG (n.255+214_255+215insG)
c.502_503insG (p.Pro168ArgfsTer?)
c.469_470insG (p.Pro157ArgfsTer?)
11g.2884988G>ACA379146575CDKN1Cn.142+646C>T
c.255+214C>T (n.255+214C>T)
c.502C>T (p.Pro168Ser)
c.469C>T (p.Pro157Ser)
 dbSNP gnomAD v4
11g.2884988G>CCA379146576CDKN1Cn.142+646C>G
c.255+214C>G (n.255+214C>G)
c.502C>G (p.Pro168Ala)
c.469C>G (p.Pro157Ala)
 ClinVar dbSNP gnomAD v4
11g.2884988G=CA1948368553CDKN1Cn.142+646C=
c.255+214C= (n.255+214C=)
c.502C= (p.Pro168=)
c.469C= (p.Pro157=)
11g.2884988G>TCA379146577CDKN1Cn.142+646C>A
c.255+214C>A (n.255+214C>A)
c.502C>A (p.Pro168Thr)
c.469C>A (p.Pro157Thr)
 gnomAD v4
11g.2884989delCA2612015226CDKN1Cn.142+645del
c.255+213del (n.255+213del)
c.501del (p.Pro168ArgfsTer?)
c.468del (p.Pro157ArgfsTer?)
 gnomAD v4
11g.2884989A=CA1948368554CDKN1Cn.142+645T=
c.255+213T= (n.255+213T=)
c.501T= (p.Ala167=)
c.468T= (p.Ala156=)
11g.2884989A>CCA472832845CDKN1Cn.142+645T>G
c.255+213T>G (n.255+213T>G)
c.501T>G (p.Ala167=)
c.468T>G (p.Ala156=)
11g.2884989A>GCA472832847CDKN1Cn.142+645T>C
c.255+213T>C (n.255+213T>C)
c.501T>C (p.Ala167=)
c.468T>C (p.Ala156=)
 dbSNP gnomAD v3 gnomAD v4
11g.2884989A>TCA472832848CDKN1Cn.142+645T>A
c.255+213T>A (n.255+213T>A)
c.501T>A (p.Ala167=)
c.468T>A (p.Ala156=)
 gnomAD v4
11g.2884989_2884990delinsAGCA1948368555CDKN1Cn.142+644_142+645delinsCT
c.255+212_255+213delinsCT (n.255+212_255+213delinsCT)
c.500_501delinsCT (p.Ala167=)
c.467_468delinsCT (p.Ala156=)
11g.2884990delCA1948368556CDKN1Cn.142+644del
c.255+212del (n.255+212del)
c.500del (p.Ala167ValfsTer?)
c.467del (p.Ala156ValfsTer?)
 dbSNP
11g.2884990G>ACA379146578CDKN1Cn.142+644C>T
c.255+212C>T (n.255+212C>T)
c.500C>T (p.Ala167Val)
c.467C>T (p.Ala156Val)
 ClinVar dbSNP
11g.2884990G>CCA379146579CDKN1Cn.142+644C>G
c.255+212C>G (n.255+212C>G)
c.500C>G (p.Ala167Gly)
c.467C>G (p.Ala156Gly)
11g.2884990G>TCA379146580CDKN1Cn.142+644C>A
c.255+212C>A (n.255+212C>A)
c.500C>A (p.Ala167Asp)
c.467C>A (p.Ala156Asp)
 gnomAD v4
11g.2884990_2884995delCA2612015237CDKN1Cn.142+639_142+644del
c.255+207_255+212del (n.255+207_255+212del)
c.495_500del (p.Ala166_Ala167del)
c.462_467del (p.Ala155_Ala156del)
 gnomAD v4
11g.2884991_2884995delCA2612015236CDKN1Cn.142+640_142+644del
c.255+208_255+212del (n.255+208_255+212del)
c.496_500del (p.Ala166SerfsTer?)
c.463_467del (p.Ala155SerfsTer?)
 gnomAD v4
11g.2884990_2884996delinsGCCGCGACA1948368557CDKN1Cn.142+638_142+644delinsTCGCGGC
c.255+206_255+212delinsTCGCGGC (n.255+206_255+212delinsTCGCGGC)
c.494_500delinsTCGCGGC (p.Val165=)
c.461_467delinsTCGCGGC (p.Val154=)
11g.2884990_2884997delCA2612015239CDKN1Cn.142+637_142+644del
c.255+205_255+212del (n.255+205_255+212del)
c.493_500del (p.Val165SerfsTer?)
c.460_467del (p.Val154SerfsTer?)
 gnomAD v4
11g.2884991_2884999delCA2612015240CDKN1Cn.142+636_142+644del
c.255+204_255+212del (n.255+204_255+212del)
c.492_500del (p.Val165_Ala167del)
c.459_467del (p.Val154_Ala156del)
 gnomAD v4
11g.2884991_2885000delCA2612015242CDKN1Cn.142+635_142+644del
c.255+203_255+212del (n.255+203_255+212del)
c.491_500del (p.Pro164LeufsTer?)
c.458_467del (p.Pro153LeufsTer?)
 gnomAD v4
11g.2884994_2885017delCA2573145984CDKN1Cn.142+621_142+644del
c.255+189_255+212del (n.255+189_255+212del)
c.477_500del (p.Pro160_Ala167del)
c.444_467del (p.Pro149_Ala156del)
 ClinVar dbSNP
11g.2884992_2885021delCA2612015245CDKN1Cn.142+615_142+644del
c.255+183_255+212del (n.255+183_255+212del)
c.471_500del (p.Pro158_Ala167del)
c.438_467del (p.Pro147_Ala156del)
 gnomAD v4

Number of alleles fetched