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.2884840_2884857delCA2612014418CDKN1Cn.143-722_143-705del
c.255+346_255+363del (n.255+346_255+363del)
c.634_651del (p.Pro212_Asp217del)
c.601_618del (p.Pro201_Asp206del)
 gnomAD v4
11g.2884840_2884863delCA2612014417CDKN1Cn.143-728_143-705del
c.255+340_255+363del (n.255+340_255+363del)
c.628_651del (p.Pro210_Asp217del)
c.595_618del (p.Pro199_Asp206del)
 gnomAD v4
11g.2884840_2884864delinsTCCGGGGCCGGGGCCGGGGCGGGGGCA1948368387CDKN1Cn.143-730_143-706delinsCCCCCGCCCCGGCCCCGGCCCCGGA
c.255+338_255+362delinsCCCCCGCCCCGGCCCCGGCCCCGGA (n.255+338_255+362delinsCCCCCGCCCCGGCCCCGGCCCCGGA)
c.626_650delinsCCCCCGCCCCGGCCCCGGCCCCGGA (p.Ala209=)
c.593_617delinsCCCCCGCCCCGGCCCCGGCCCCGGA (p.Ala198=)
11g.2884840_2884876delinsTCCGGGGCCGGGGCCGGGGCGGGGGCCGGGGCCGGGGCA1948368388CDKN1Cn.143-742_143-706delinsCCCCGGCCCCGGCCCCCGCCCCGGCCCCGGCCCCGGA
c.255+326_255+362delinsCCCCGGCCCCGGCCCCCGCCCCGGCCCCGGCCCCGGA (n.255+326_255+362delinsCCCCGGCCCCGGCCCCCGCCCCGGCCCCGGCCCCGGA)
c.614_650delinsCCCCGGCCCCGGCCCCCGCCCCGGCCCCGGCCCCGGA (p.Ala205=)
c.581_617delinsCCCCGGCCCCGGCCCCCGCCCCGGCCCCGGCCCCGGA (p.Ala194=)
11g.2884854_2884859dupCA274883CDKN1Cn.143-712_143-707dup
c.255+356_255+361dup (n.255+356_255+361dup)
c.644_649dup (p.Pro216_Asp217insAlaPro)
c.611_616dup (p.Pro205_Asp206insAlaPro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2884854_2884859delCA597432859CDKN1Cn.143-712_143-707del
c.255+356_255+361del (n.255+356_255+361del)
c.644_649del (p.Ala215_Pro216del)
c.611_616del (p.Ala204_Pro205del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884848_2884859delCA16613540CDKN1Cn.143-718_143-707del
c.255+350_255+361del (n.255+350_255+361del)
c.638_649del (p.Ala213_Pro216del)
c.605_616del (p.Ala202_Pro205del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884842_2884859delCA2499220883CDKN1Cn.143-724_143-707del
c.255+344_255+361del (n.255+344_255+361del)
c.632_649del (p.Ala211_Pro216del)
c.599_616del (p.Ala200_Pro205del)
 ClinVar dbSNP
11g.2884860_2884883dupCA658656113CDKN1Cn.143-730_143-707dup
c.255+338_255+361dup (n.255+338_255+361dup)
c.626_649dup (p.Pro216_Asp217insAlaProAlaProAlaProAlaPro)
c.593_616dup (p.Pro205_Asp206insAlaProAlaProAlaProAlaPro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884860_2884883delCA5822201CDKN1Cn.143-730_143-707del
c.255+338_255+361del (n.255+338_255+361del)
c.626_649del (p.Ala209_Pro216del)
c.593_616del (p.Ala198_Pro205del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2884860_2884889dupCA658797573CDKN1Cn.143-736_143-707dup
c.255+332_255+361dup (n.255+332_255+361dup)
c.620_649dup (p.Pro216_Asp217insAlaProAlaProAlaProAlaProAlaPro)
c.587_616dup (p.Pro205_Asp206insAlaProAlaProAlaProAlaProAlaPro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884854_2884889dupCA2697548338CDKN1Cn.143-742_143-707dup
c.255+326_255+361dup (n.255+326_255+361dup)
c.614_649dup (p.Pro216_Asp217insAlaProAlaProAlaProAlaProAlaProAlaPro)
c.581_616dup (p.Pro205_Asp206insAlaProAlaProAlaProAlaProAlaProAlaPro)
 ClinVar
11g.2884848_2884889dupCA2573145967CDKN1Cn.143-748_143-707dup
c.255+320_255+361dup (n.255+320_255+361dup)
c.608_649dup (p.Pro216_Asp217insAlaProAlaProAlaProAlaProAlaProAlaProAlaPro)
c.575_616dup (p.Pro205_Asp206insAlaProAlaProAlaProAlaProAlaProAlaProAlaPro)
 ClinVar dbSNP
11g.2884860_2884889delCA10582891CDKN1Cn.143-736_143-707del
c.255+332_255+361del (n.255+332_255+361del)
c.620_649del (p.Ala207_Pro216del)
c.587_616del (p.Ala196_Pro205del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884854_2884889delCA675284073CDKN1Cn.143-742_143-707del
c.255+326_255+361del (n.255+326_255+361del)
c.614_649del (p.Ala205_Pro216del)
c.581_616del (p.Ala194_Pro205del)
 dbSNP gnomAD v4
11g.2884848_2884889delCA2612014423CDKN1Cn.143-748_143-707del
c.255+320_255+361del (n.255+320_255+361del)
c.608_649del (p.Ala203_Pro216del)
c.575_616del (p.Ala192_Pro205del)
 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.2884842_2884860delinsCGGGGCCGGGGCCGGGGCGCA1948368389CDKN1Cn.143-726_143-708delinsCGCCCCGGCCCCGGCCCCG
c.255+342_255+360delinsCGCCCCGGCCCCGGCCCCG (n.255+342_255+360delinsCGCCCCGGCCCCGGCCCCG)
c.630_648delinsCGCCCCGGCCCCGGCCCCG (p.Pro210=)
c.597_615delinsCGCCCCGGCCCCGGCCCCG (p.Pro199=)
11g.2884860_2884877dupCA934495500CDKN1Cn.143-726_143-709dup
c.255+342_255+359dup (n.255+342_255+359dup)
c.630_647dup (p.Pro216_Asp217insAlaProAlaProAlaPro)
c.597_614dup (p.Pro205_Asp206insAlaProAlaProAlaPro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884860_2884877delCA5822202CDKN1Cn.143-726_143-709del
c.255+342_255+359del (n.255+342_255+359del)
c.630_647del (p.Ala211_Pro216del)
c.597_614del (p.Ala200_Pro205del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 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.2884847_2884858delinsCCGGGGCCGGGGCA1948368395CDKN1Cn.143-724_143-713delinsCCCCGGCCCCGG
c.255+344_255+355delinsCCCCGGCCCCGG (n.255+344_255+355delinsCCCCGGCCCCGG)
c.632_643delinsCCCCGGCCCCGG (p.Ala211=)
c.599_610delinsCCCCGGCCCCGG (p.Ala200=)
11g.2884848_2884860delinsCGGGGCCGGGGCGCA1948368399CDKN1Cn.143-726_143-714delinsCGCCCCGGCCCCG
c.255+342_255+354delinsCGCCCCGGCCCCG (n.255+342_255+354delinsCGCCCCGGCCCCG)
c.630_642delinsCGCCCCGGCCCCG (p.Pro210=)
c.597_609delinsCGCCCCGGCCCCG (p.Pro199=)
11g.2884853_2884863delCA916081624CDKN1Cn.143-724_143-714del
c.255+344_255+354del (n.255+344_255+354del)
c.632_642del (p.Ala211GlyfsTer26)
c.599_609del (p.Ala200GlyfsTer26)
 ClinVar dbSNP
11g.2884860_2884871dupCA658797574CDKN1Cn.143-726_143-715dup
c.255+342_255+353dup (n.255+342_255+353dup)
c.630_641dup (p.Pro214_Ala215insAlaProAlaPro)
c.597_608dup (p.Pro203_Ala204insAlaProAlaPro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884860_2884871delCA597432646CDKN1Cn.143-726_143-715del
c.255+342_255+353del (n.255+342_255+353del)
c.630_641del (p.Ala211_Pro214del)
c.597_608del (p.Ala200_Pro203del)
 ClinVar dbSNP gnomAD v2 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.2884854delCA2580082642CDKN1Cn.143-719del
c.255+349del (n.255+349del)
c.637del (p.Ala213ProfsTer?)
c.604del (p.Ala202ProfsTer?)
 ClinVar gnomAD v4
11g.2884854C>ACA472832215CDKN1Cn.143-720G>T
c.255+348G>T (n.255+348G>T)
c.636G>T (p.Pro212=)
c.603G>T (p.Pro201=)
 gnomAD v4
11g.2884854C=CA1948368405CDKN1Cn.143-720G=
c.255+348G= (n.255+348G=)
c.636G= (p.Pro212=)
c.603G= (p.Pro201=)
11g.2884854C>GCA472832217CDKN1Cn.143-720G>C
c.255+348G>C (n.255+348G>C)
c.636G>C (p.Pro212=)
c.603G>C (p.Pro201=)
 ClinVar dbSNP gnomAD v4
11g.2884854C>TCA472832218CDKN1Cn.143-720G>A
c.255+348G>A (n.255+348G>A)
c.636G>A (p.Pro212=)
c.603G>A (p.Pro201=)
 gnomAD v4
11g.2884854_2884855delinsCGCA1948368403CDKN1Cn.143-721_143-720delinsCG
c.255+347_255+348delinsCG (n.255+347_255+348delinsCG)
c.635_636delinsCG (p.Pro212=)
c.602_603delinsCG (p.Pro201=)
11g.2884854_2884860delinsCGGGGCGCA1948368404CDKN1Cn.143-726_143-720delinsCGCCCCG
c.255+342_255+348delinsCGCCCCG (n.255+342_255+348delinsCGCCCCG)
c.630_636delinsCGCCCCG (p.Pro210=)
c.597_603delinsCGCCCCG (p.Pro199=)
11g.2884855G>ACA379146173CDKN1Cn.143-721C>T
c.255+347C>T (n.255+347C>T)
c.635C>T (p.Pro212Leu)
c.602C>T (p.Pro201Leu)
 ClinVar dbSNP gnomAD v4
11g.2884855G>CCA379146177CDKN1Cn.143-721C>G
c.255+347C>G (n.255+347C>G)
c.635C>G (p.Pro212Arg)
c.602C>G (p.Pro201Arg)
 ClinVar dbSNP gnomAD v4
11g.2884855G=CA1948368406CDKN1Cn.143-721C=
c.255+347C= (n.255+347C=)
c.635C= (p.Pro212=)
c.602C= (p.Pro201=)
11g.2884855G>TCA379146181CDKN1Cn.143-721C>A
c.255+347C>A (n.255+347C>A)
c.635C>A (p.Pro212Gln)
c.602C>A (p.Pro201Gln)
 gnomAD v4
11g.2884858delCA274881CDKN1Cn.143-721del
c.255+347del (n.255+347del)
c.635del (p.Pro212ArgfsTer?)
c.602del (p.Pro201ArgfsTer?)
 ClinVar dbSNP gnomAD v4
11g.2884860_2884865dupCA10582892CDKN1Cn.143-726_143-721dup
c.255+342_255+347dup (n.255+342_255+347dup)
c.630_635dup (p.Pro212_Ala213insAlaPro)
c.597_602dup (p.Pro201_Ala202insAlaPro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884860_2884865delCA915947940CDKN1Cn.143-726_143-721del
c.255+342_255+347del (n.255+342_255+347del)
c.630_635del (p.Ala211_Pro212del)
c.597_602del (p.Ala200_Pro201del)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884858_2884882dupCA274878CDKN1Cn.143-745_143-721dup
c.255+323_255+347dup (n.255+323_255+347dup)
c.611_635dup (p.Ala213GlyfsTer36)
c.578_602dup (p.Ala202GlyfsTer36)
 ClinVar dbSNP
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.2884856G>ACA379146185CDKN1Cn.143-722C>T
c.255+346C>T (n.255+346C>T)
c.634C>T (p.Pro212Ser)
c.601C>T (p.Pro201Ser)
 ClinVar gnomAD v4
11g.2884856G>CCA379146188CDKN1Cn.143-722C>G
c.255+346C>G (n.255+346C>G)
c.634C>G (p.Pro212Ala)
c.601C>G (p.Pro201Ala)
 gnomAD v4
11g.2884856G>TCA379146189CDKN1Cn.143-722C>A
c.255+346C>A (n.255+346C>A)
c.634C>A (p.Pro212Thr)
c.601C>A (p.Pro201Thr)
 gnomAD v4
11g.2884859_2884860insCTGGGCCA2499220886CDKN1Cn.143-722_143-721insAGGCCC
c.255+346_255+347insAGGCCC (n.255+346_255+347insAGGCCC)
c.634_635insAGGCCC (p.Ala211_Pro212insGlnAla)
c.601_602insAGGCCC (p.Ala200_Pro201insGlnAla)
 ClinVar dbSNP gnomAD v4
11g.2884859_2884875delCA2612014429CDKN1Cn.143-738_143-722del
c.255+330_255+346del (n.255+330_255+346del)
c.618_634del (p.Ala207GlyfsTer28)
c.585_601del (p.Ala196GlyfsTer28)
 gnomAD v4
11g.2884857G>ACA472832239CDKN1Cn.143-723C>T
c.255+345C>T (n.255+345C>T)
c.633C>T (p.Ala211=)
c.600C>T (p.Ala200=)
 gnomAD v4
11g.2884857G>CCA472832240CDKN1Cn.143-723C>G
c.255+345C>G (n.255+345C>G)
c.633C>G (p.Ala211=)
c.600C>G (p.Ala200=)
11g.2884857G=CA1948368407CDKN1Cn.143-723C=
c.255+345C= (n.255+345C=)
c.633C= (p.Ala211=)
c.600C= (p.Ala200=)
11g.2884857G>TCA472832242CDKN1Cn.143-723C>A
c.255+345C>A (n.255+345C>A)
c.633C>A (p.Ala211=)
c.600C>A (p.Ala200=)
 ClinVar dbSNP gnomAD v4
11g.2884857_2884858insCGGTGCCA916084226CDKN1Cn.143-724_143-723insGCACCG
c.255+344_255+345insGCACCG (n.255+344_255+345insGCACCG)
c.632_633insGCACCG (p.Ala211_Pro212insHisArg)
c.599_600insGCACCG (p.Ala200_Pro201insHisArg)
11g.2884858G>ACA379146196CDKN1Cn.143-724C>T
c.255+344C>T (n.255+344C>T)
c.632C>T (p.Ala211Val)
c.599C>T (p.Ala200Val)
 gnomAD v3 gnomAD v4
11g.2884858G>CCA379146194CDKN1Cn.143-724C>G
c.255+344C>G (n.255+344C>G)
c.632C>G (p.Ala211Gly)
c.599C>G (p.Ala200Gly)
 gnomAD v4
11g.2884858G=CA1948368408CDKN1Cn.143-724C=
c.255+344C= (n.255+344C=)
c.632C= (p.Ala211=)
c.599C= (p.Ala200=)
11g.2884858G>TCA379146192CDKN1Cn.143-724C>A
c.255+344C>A (n.255+344C>A)
c.632C>A (p.Ala211Asp)
c.599C>A (p.Ala200Asp)
 gnomAD v4
11g.2884858_2884859delinsGCCA1948368409CDKN1Cn.143-725_143-724delinsGC
c.255+343_255+344delinsGC (n.255+343_255+344delinsGC)
c.631_632delinsGC (p.Ala211=)
c.598_599delinsGC (p.Ala200=)
11g.2884859_2884860insCGGTGCCA5822204CDKN1Cn.143-724_143-723insACCGGC
c.255+344_255+345insACCGGC (n.255+344_255+345insACCGGC)
c.632_633insACCGGC (p.Ala211_Pro212insProAla)
c.599_600insACCGGC (p.Ala200_Pro201insProAla)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2884859delCA2695213095CDKN1Cn.143-725del
c.255+343del (n.255+343del)
c.631del (p.Ala211ProfsTer?)
c.598del (p.Ala200ProfsTer?)
11g.2884859C>ACA379146202CDKN1Cn.143-725G>T
c.255+343G>T (n.255+343G>T)
c.631G>T (p.Ala211Ser)
c.598G>T (p.Ala200Ser)
 ClinVar gnomAD v4
11g.2884859C=CA1948368410CDKN1Cn.143-725G=
c.255+343G= (n.255+343G=)
c.631G= (p.Ala211=)
c.598G= (p.Ala200=)
11g.2884859C>GCA379146203CDKN1Cn.143-725G>C
c.255+343G>C (n.255+343G>C)
c.631G>C (p.Ala211Pro)
c.598G>C (p.Ala200Pro)
 dbSNP gnomAD v4
11g.2884859C>TCA16609694CDKN1Cn.143-725G>A
c.255+343G>A (n.255+343G>A)
c.631G>A (p.Ala211Thr)
c.598G>A (p.Ala200Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884859delinsTTCA274880CDKN1Cn.143-725delinsAA
c.255+343delinsAA (n.255+343delinsAA)
c.631delinsAA (p.Ala211AsnfsTer30)
c.598delinsAA (p.Ala200AsnfsTer30)
 ClinVar dbSNP
11g.2884864_2884888dupCA1139661757CDKN1Cn.143-749_143-725dup
c.255+319_255+343dup (n.255+319_255+343dup)
c.607_631dup (p.Ala211GlyfsTer38)
c.574_598dup (p.Ala200GlyfsTer38)
 ClinVar dbSNP
11g.2884860G>ACA216367251CDKN1Cn.143-726C>T
c.255+342C>T (n.255+342C>T)
c.630C>T (p.Pro210=)
c.597C>T (p.Pro199=)
 ClinVar dbSNP gnomAD v4
11g.2884860G>CCA5822206CDKN1Cn.143-726C>G
c.255+342C>G (n.255+342C>G)
c.630C>G (p.Pro210=)
c.597C>G (p.Pro199=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.2884860G=CA1948368411CDKN1Cn.143-726C=
c.255+342C= (n.255+342C=)
c.630C= (p.Pro210=)
c.597C= (p.Pro199=)
11g.2884860G>TCA472832259CDKN1Cn.143-726C>A
c.255+342C>A (n.255+342C>A)
c.630C>A (p.Pro210=)
c.597C>A (p.Pro199=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884860_2884861insAGCGGGGCCGGCA916084227CDKN1Cn.143-726_143-725insCGGCCCCGCTC
c.255+342_255+343insCGGCCCCGCTC (n.255+342_255+343insCGGCCCCGCTC)
c.630_631insCGGCCCCGCTC (p.Ala211ArgfsTer?)
c.597_598insCGGCCCCGCTC (p.Ala200ArgfsTer?)
11g.2884860_2884864delCA2612014430CDKN1Cn.143-730_143-726del
c.255+338_255+342del (n.255+338_255+342del)
c.626_630del (p.Ala209GlyfsTer30)
c.593_597del (p.Ala198GlyfsTer30)
 gnomAD v4
11g.2884864delCA2574728693CDKN1Cn.143-726del
c.255+342del (n.255+342del)
c.630del (p.Ala211ProfsTer?)
c.597del (p.Ala200ProfsTer?)
 gnomAD v4
11g.2884860_2884878delinsGGGGGCCGGGGCCGGGGCCCA1948368413CDKN1Cn.143-744_143-726delinsGGCCCCGGCCCCGGCCCCC
c.255+324_255+342delinsGGCCCCGGCCCCGGCCCCC (n.255+324_255+342delinsGGCCCCGGCCCCGGCCCCC)
c.612_630delinsGGCCCCGGCCCCGGCCCCC (p.Pro204=)
c.579_597delinsGGCCCCGGCCCCGGCCCCC (p.Pro193=)
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.2884861G>ACA379146222CDKN1Cn.143-727C>T
c.255+341C>T (n.255+341C>T)
c.629C>T (p.Pro210Leu)
c.596C>T (p.Pro199Leu)
 gnomAD v4
11g.2884861G>CCA379146219CDKN1Cn.143-727C>G
c.255+341C>G (n.255+341C>G)
c.629C>G (p.Pro210Arg)
c.596C>G (p.Pro199Arg)
 ClinVar
11g.2884861G>TCA379146218CDKN1Cn.143-727C>A
c.255+341C>A (n.255+341C>A)
c.629C>A (p.Pro210His)
c.596C>A (p.Pro199His)
 gnomAD v4
11g.2884868_2884869insAGCGGGGCCGGCA274879CDKN1Cn.143-727_143-726insGCTCCGGCCCC
c.255+341_255+342insGCTCCGGCCCC (n.255+341_255+342insGCTCCGGCCCC)
c.629_630insGCTCCGGCCCC (p.Ala211LeufsTer?)
c.596_597insGCTCCGGCCCC (p.Ala200LeufsTer?)
 ClinVar dbSNP
11g.2884869_2884870insCCGGGGCCGGGGCCGGGCA2590573237CDKN1Cn.143-727_143-726insGGCCCCGGCCCGGCCCC
c.255+341_255+342insGGCCCCGGCCCGGCCCC (n.255+341_255+342insGGCCCCGGCCCGGCCCC)
c.629_630insGGCCCCGGCCCGGCCCC (p.Pro214ArgfsTer?)
c.596_597insGGCCCCGGCCCGGCCCC (p.Pro203ArgfsTer?)
 gnomAD v3 gnomAD v4
11g.2884889_2884890insCGGGGCCGGGGCCGGGGCCGGGGCCGGGGCCA597432647CDKN1Cn.143-727_143-726insGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC
c.255+341_255+342insGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC (n.255+341_255+342insGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC)
c.629_630insGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC (p.Pro210_Ala211insAlaProAlaProAlaProAlaProAlaPro)
c.596_597insGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC (p.Pro199_Ala200insAlaProAlaProAlaProAlaProAlaPro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884889_2884890insCGGGGCCGGGGCCGGGGCCGGGGCCGGGGCCGGGGCCA2580615616CDKN1Cn.143-727_143-726insGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC
c.255+341_255+342insGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC (n.255+341_255+342insGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC)
c.629_630insGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC (p.Pro210_Ala211insAlaProAlaProAlaProAlaProAlaProAlaPro)
c.596_597insGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCC (p.Pro199_Ala200insAlaProAlaProAlaProAlaProAlaProAlaPro)
 ClinVar dbSNP
11g.2884889_2884890insGGGGGCCGGGGCCGGGGCCGGGGCCGGGGCCGGGGCCGGGGCCGGGGCCGGGGCCA2580615617CDKN1Cn.143-727_143-726insGGCCCCGGCCCCGGCCCCGGCCCCCGCCCCGGCCCCGGCCCCGGCCCCGGCCCC
c.255+341_255+342insGGCCCCGGCCCCGGCCCCGGCCCCCGCCCCGGCCCCGGCCCCGGCCCCGGCCCC (n.255+341_255+342insGGCCCCGGCCCCGGCCCCGGCCCCCGCCCCGGCCCCGGCCCCGGCCCCGGCCCC)
c.629_630insGGCCCCGGCCCCGGCCCCGGCCCCCGCCCCGGCCCCGGCCCCGGCCCCGGCCCC (p.Pro210_Ala211insAlaProAlaProAlaProAlaProAlaProAlaProAlaProAlaProAlaPro)
c.596_597insGGCCCCGGCCCCGGCCCCGGCCCCCGCCCCGGCCCCGGCCCCGGCCCCGGCCCC (p.Pro199_Ala200insAlaProAlaProAlaProAlaProAlaProAlaProAlaProAlaProAlaPro)
11g.2884884_2884889dupCA10582894CDKN1Cn.143-732_143-727dup
c.255+336_255+341dup (n.255+336_255+341dup)
c.624_629dup (p.Pro210_Ala211insAlaPro)
c.591_596dup (p.Pro199_Ala200insAlaPro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884878_2884889dupCA675284205CDKN1Cn.143-738_143-727dup
c.255+330_255+341dup (n.255+330_255+341dup)
c.618_629dup (p.Pro210_Ala211insAlaProAlaPro)
c.585_596dup (p.Pro199_Ala200insAlaProAlaPro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884872_2884889dupCA934495540CDKN1Cn.143-744_143-727dup
c.255+324_255+341dup (n.255+324_255+341dup)
c.612_629dup (p.Pro210_Ala211insAlaProAlaProAlaPro)
c.579_596dup (p.Pro199_Ala200insAlaProAlaProAlaPro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884866_2884889dupCA658797575CDKN1Cn.143-750_143-727dup
c.255+318_255+341dup (n.255+318_255+341dup)
c.606_629dup (p.Pro210_Ala211insAlaProAlaProAlaProAlaPro)
c.573_596dup (p.Pro199_Ala200insAlaProAlaProAlaProAlaPro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884884_2884889delCA10582893CDKN1Cn.143-732_143-727del
c.255+336_255+341del (n.255+336_255+341del)
c.624_629del (p.Ala209_Pro210del)
c.591_596del (p.Ala198_Pro199del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884878_2884889delCA5822205CDKN1Cn.143-738_143-727del
c.255+330_255+341del (n.255+330_255+341del)
c.618_629del (p.Ala207_Pro210del)
c.585_596del (p.Ala196_Pro199del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2884872_2884889delCA16613342CDKN1Cn.143-744_143-727del
c.255+324_255+341del (n.255+324_255+341del)
c.612_629del (p.Ala205_Pro210del)
c.579_596del (p.Ala194_Pro199del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884866_2884889delCA2612014432CDKN1Cn.143-750_143-727del
c.255+318_255+341del (n.255+318_255+341del)
c.606_629del (p.Ala203_Pro210del)
c.573_596del (p.Ala192_Pro199del)
 gnomAD v4
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.2884862G>ACA379146228CDKN1Cn.143-728C>T
c.255+340C>T (n.255+340C>T)
c.628C>T (p.Pro210Ser)
c.595C>T (p.Pro199Ser)
 ClinVar dbSNP gnomAD v4
11g.2884862G>CCA379146231CDKN1Cn.143-728C>G
c.255+340C>G (n.255+340C>G)
c.628C>G (p.Pro210Ala)
c.595C>G (p.Pro199Ala)
 gnomAD v4
11g.2884862G=CA1948368414CDKN1Cn.143-728C=
c.255+340C= (n.255+340C=)
c.628C= (p.Pro210=)
c.595C= (p.Pro199=)
11g.2884862G>TCA379146233CDKN1Cn.143-728C>A
c.255+340C>A (n.255+340C>A)
c.628C>A (p.Pro210Thr)
c.595C>A (p.Pro199Thr)
 gnomAD v4
11g.2884865_2884869delCA2612014433CDKN1Cn.143-732_143-728del
c.255+336_255+340del (n.255+336_255+340del)
c.624_628del (p.Ala209ArgfsTer?)
c.591_595del (p.Ala198ArgfsTer?)
 gnomAD v4
11g.2884863G>ACA16613292CDKN1Cn.143-729C>T
c.255+339C>T (n.255+339C>T)
c.627C>T (p.Ala209=)
c.594C>T (p.Ala198=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884863G>CCA472832273CDKN1Cn.143-729C>G
c.255+339C>G (n.255+339C>G)
c.627C>G (p.Ala209=)
c.594C>G (p.Ala198=)
11g.2884863G=CA1948368416CDKN1Cn.143-729C=
c.255+339C= (n.255+339C=)
c.627C= (p.Ala209=)
c.594C= (p.Ala198=)
11g.2884863G>TCA472832275CDKN1Cn.143-729C>A
c.255+339C>A (n.255+339C>A)
c.627C>A (p.Ala209=)
c.594C>A (p.Ala198=)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
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.2884863_2884864insTGGACCA934495546CDKN1Cn.143-730_143-729insGTCCA
c.255+338_255+339insGTCCA (n.255+338_255+339insGTCCA)
c.626_627insGTCCA (p.Pro210SerfsTer?)
c.593_594insGTCCA (p.Pro199SerfsTer?)
 gnomAD v3 gnomAD v4
11g.2884864G>ACA379146236CDKN1Cn.143-730C>T
c.255+338C>T (n.255+338C>T)
c.626C>T (p.Ala209Val)
c.593C>T (p.Ala198Val)
 ClinVar dbSNP gnomAD v4
11g.2884864G>CCA379146239CDKN1Cn.143-730C>G
c.255+338C>G (n.255+338C>G)
c.626C>G (p.Ala209Gly)
c.593C>G (p.Ala198Gly)
 ClinVar dbSNP gnomAD v4
11g.2884864G=CA1948368417CDKN1Cn.143-730C=
c.255+338C= (n.255+338C=)
c.626C= (p.Ala209=)
c.593C= (p.Ala198=)
11g.2884864G>TCA379146241CDKN1Cn.143-730C>A
c.255+338C>A (n.255+338C>A)
c.626C>A (p.Ala209Asp)
c.593C>A (p.Ala198Asp)
 ClinVar gnomAD v4
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.2884865C>ACA379146244CDKN1Cn.143-731G>T
c.255+337G>T (n.255+337G>T)
c.625G>T (p.Ala209Ser)
c.592G>T (p.Ala198Ser)
 gnomAD v4
11g.2884865C=CA1948368418CDKN1Cn.143-731G=
c.255+337G= (n.255+337G=)
c.625G= (p.Ala209=)
c.592G= (p.Ala198=)
11g.2884865C>GCA379146247CDKN1Cn.143-731G>C
c.255+337G>C (n.255+337G>C)
c.625G>C (p.Ala209Pro)
c.592G>C (p.Ala198Pro)
11g.2884865C>TCA5822207CDKN1Cn.143-731G>A
c.255+337G>A (n.255+337G>A)
c.625G>A (p.Ala209Thr)
c.592G>A (p.Ala198Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2884865_2884866delCA2574728694CDKN1Cn.143-732_143-731del
c.255+336_255+337del (n.255+336_255+337del)
c.624_625del (p.Ala209ProfsTer?)
c.591_592del (p.Ala198ProfsTer?)
11g.2884866C>ACA472832282CDKN1Cn.143-732G>T
c.255+336G>T (n.255+336G>T)
c.624G>T (p.Pro208=)
c.591G>T (p.Pro197=)
 gnomAD v4
11g.2884866C=CA1948368420CDKN1Cn.143-732G=
c.255+336G= (n.255+336G=)
c.624G= (p.Pro208=)
c.591G= (p.Pro197=)
11g.2884866C>GCA472832284CDKN1Cn.143-732G>C
c.255+336G>C (n.255+336G>C)
c.624G>C (p.Pro208=)
c.591G>C (p.Pro197=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2884866C>TCA472832286CDKN1Cn.143-732G>A
c.255+336G>A (n.255+336G>A)
c.624G>A (p.Pro208=)
c.591G>A (p.Pro197=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2884867_2884871delCA2612014436CDKN1Cn.143-736_143-732del
c.255+332_255+336del (n.255+332_255+336del)
c.620_624del (p.Ala207GlyfsTer?)
c.587_591del (p.Ala196GlyfsTer?)
 gnomAD v4
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.2884867G>ACA379146250CDKN1Cn.143-733C>T
c.255+335C>T (n.255+335C>T)
c.623C>T (p.Pro208Leu)
c.590C>T (p.Pro197Leu)
 ClinVar gnomAD v3 gnomAD v4
11g.2884867G>CCA379146252CDKN1Cn.143-733C>G
c.255+335C>G (n.255+335C>G)
c.623C>G (p.Pro208Arg)
c.590C>G (p.Pro197Arg)
 gnomAD v4
11g.2884867G>TCA379146255CDKN1Cn.143-733C>A
c.255+335C>A (n.255+335C>A)
c.623C>A (p.Pro208Gln)
c.590C>A (p.Pro197Gln)
 gnomAD v4
11g.2884867_2884870delCA2612014438CDKN1Cn.143-736_143-733del
c.255+332_255+335del (n.255+332_255+335del)
c.620_623del (p.Ala207GlyfsTer?)
c.587_590del (p.Ala196GlyfsTer?)
 gnomAD v4
11g.2884870delCA2573053487CDKN1Cn.143-733del
c.255+335del (n.255+335del)
c.623del (p.Pro208ArgfsTer?)
c.590del (p.Pro197ArgfsTer?)
 ClinVar dbSNP gnomAD v4
11g.2884870_2884882delCA2612014437CDKN1Cn.143-745_143-733del
c.255+323_255+335del (n.255+323_255+335del)
c.611_623del (p.Pro204ArgfsTer?)
c.578_590del (p.Pro193ArgfsTer?)
 gnomAD v4
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.2884868G>ACA379146258CDKN1Cn.143-734C>T
c.255+334C>T (n.255+334C>T)
c.622C>T (p.Pro208Ser)
c.589C>T (p.Pro197Ser)
 gnomAD v4
11g.2884868G>CCA379146260CDKN1Cn.143-734C>G
c.255+334C>G (n.255+334C>G)
c.622C>G (p.Pro208Ala)
c.589C>G (p.Pro197Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884868G=CA1948368421CDKN1Cn.143-734C=
c.255+334C= (n.255+334C=)
c.622C= (p.Pro208=)
c.589C= (p.Pro197=)
11g.2884868G>TCA379146263CDKN1Cn.143-734C>A
c.255+334C>A (n.255+334C>A)
c.622C>A (p.Pro208Thr)
c.589C>A (p.Pro197Thr)
 gnomAD v4
11g.2884868_2884869insCCCCCA2612014441CDKN1Cn.143-735_143-734insGGGG
c.255+333_255+334insGGGG (n.255+333_255+334insGGGG)
c.621_622insGGGG (p.Pro208GlyfsTer?)
c.588_589insGGGG (p.Pro197GlyfsTer?)
 gnomAD v4
11g.2884869G>ACA472832298CDKN1Cn.143-735C>T
c.255+333C>T (n.255+333C>T)
c.621C>T (p.Ala207=)
c.588C>T (p.Ala196=)
 ClinVar dbSNP gnomAD v4
11g.2884869G>CCA472832301CDKN1Cn.143-735C>G
c.255+333C>G (n.255+333C>G)
c.621C>G (p.Ala207=)
c.588C>G (p.Ala196=)
11g.2884869G=CA1948368422CDKN1Cn.143-735C=
c.255+333C= (n.255+333C=)
c.621C= (p.Ala207=)
c.588C= (p.Ala196=)
11g.2884869G>TCA472832302CDKN1Cn.143-735C>A
c.255+333C>A (n.255+333C>A)
c.621C>A (p.Ala207=)
c.588C>A (p.Ala196=)
 gnomAD v4
11g.2884870G>ACA379146267CDKN1Cn.143-736C>T
c.255+332C>T (n.255+332C>T)
c.620C>T (p.Ala207Val)
c.587C>T (p.Ala196Val)
 gnomAD v3 gnomAD v4
11g.2884870G>CCA379146269CDKN1Cn.143-736C>G
c.255+332C>G (n.255+332C>G)
c.620C>G (p.Ala207Gly)
c.587C>G (p.Ala196Gly)
11g.2884870G>TCA379146271CDKN1Cn.143-736C>A
c.255+332C>A (n.255+332C>A)
c.620C>A (p.Ala207Asp)
c.587C>A (p.Ala196Asp)
 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.2884871C>ACA379146274CDKN1Cn.143-737G>T
c.255+331G>T (n.255+331G>T)
c.619G>T (p.Ala207Ser)
c.586G>T (p.Ala196Ser)
 gnomAD v4
11g.2884871C=CA1948368423CDKN1Cn.143-737G=
c.255+331G= (n.255+331G=)
c.619G= (p.Ala207=)
c.586G= (p.Ala196=)
11g.2884871C>GCA379146276CDKN1Cn.143-737G>C
c.255+331G>C (n.255+331G>C)
c.619G>C (p.Ala207Pro)
c.586G>C (p.Ala196Pro)
11g.2884871C>TCA379146278CDKN1Cn.143-737G>A
c.255+331G>A (n.255+331G>A)
c.619G>A (p.Ala207Thr)
c.586G>A (p.Ala196Thr)
 ClinVar dbSNP gnomAD v4
11g.2884872delCA2790205433CDKN1Cn.143-737del
c.255+331del (n.255+331del)
c.619del (p.Ala207ProfsTer?)
c.586del (p.Ala196ProfsTer?)
11g.2884872C>ACA472832312CDKN1Cn.143-738G>T
c.255+330G>T (n.255+330G>T)
c.618G>T (p.Pro206=)
c.585G>T (p.Pro195=)
 gnomAD v4
11g.2884872C=CA1948368425CDKN1Cn.143-738G=
c.255+330G= (n.255+330G=)
c.618G= (p.Pro206=)
c.585G= (p.Pro195=)
11g.2884872C>GCA472832313CDKN1Cn.143-738G>C
c.255+330G>C (n.255+330G>C)
c.618G>C (p.Pro206=)
c.585G>C (p.Pro195=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.2884872C>TCA16613542CDKN1Cn.143-738G>A
c.255+330G>A (n.255+330G>A)
c.618G>A (p.Pro206=)
c.585G>A (p.Pro195=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884872_2884873delinsCGCA1948368426CDKN1Cn.143-739_143-738delinsCG
c.255+329_255+330delinsCG (n.255+329_255+330delinsCG)
c.617_618delinsCG (p.Pro206=)
c.584_585delinsCG (p.Pro195=)
11g.2884872_2884879delCA2612014442CDKN1Cn.143-745_143-738del
c.255+323_255+330del (n.255+323_255+330del)
c.611_618del (p.Pro204ArgfsTer?)
c.578_585del (p.Pro193ArgfsTer?)
 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.2884873G>ACA379146281CDKN1Cn.143-739C>T
c.255+329C>T (n.255+329C>T)
c.617C>T (p.Pro206Leu)
c.584C>T (p.Pro195Leu)
 gnomAD v4
11g.2884873G>CCA216367267CDKN1Cn.143-739C>G
c.255+329C>G (n.255+329C>G)
c.617C>G (p.Pro206Arg)
c.584C>G (p.Pro195Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884873G=CA1948368428CDKN1Cn.143-739C=
c.255+329C= (n.255+329C=)
c.617C= (p.Pro206=)
c.584C= (p.Pro195=)
11g.2884873G>TCA379146285CDKN1Cn.143-739C>A
c.255+329C>A (n.255+329C>A)
c.617C>A (p.Pro206Gln)
c.584C>A (p.Pro195Gln)
 gnomAD v4
11g.2884873_2884874insCGACTGCA2574728695CDKN1Cn.143-739_143-738insAGTCGC
c.255+329_255+330insAGTCGC (n.255+329_255+330insAGTCGC)
c.617_618insAGTCGC (p.Pro206_Ala207insValAla)
c.584_585insAGTCGC (p.Pro195_Ala196insValAla)
11g.2884873_2884876delCA2612014443CDKN1Cn.143-742_143-739del
c.255+326_255+329del (n.255+326_255+329del)
c.614_617del (p.Ala205GlyfsTer?)
c.581_584del (p.Ala194GlyfsTer?)
 gnomAD v4
11g.2884876delCA1948368427CDKN1Cn.143-739del
c.255+329del (n.255+329del)
c.617del (p.Pro206ArgfsTer?)
c.584del (p.Pro195ArgfsTer?)
 dbSNP gnomAD v4
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.2884874G>ACA379146288CDKN1Cn.143-740C>T
c.255+328C>T (n.255+328C>T)
c.616C>T (p.Pro206Ser)
c.583C>T (p.Pro195Ser)
 ClinVar gnomAD v4
11g.2884874G>CCA379146291CDKN1Cn.143-740C>G
c.255+328C>G (n.255+328C>G)
c.616C>G (p.Pro206Ala)
c.583C>G (p.Pro195Ala)
11g.2884874G>TCA379146293CDKN1Cn.143-740C>A
c.255+328C>A (n.255+328C>A)
c.616C>A (p.Pro206Thr)
c.583C>A (p.Pro195Thr)
11g.2884877_2884881delCA2574728696CDKN1Cn.143-744_143-740del
c.255+324_255+328del (n.255+324_255+328del)
c.612_616del (p.Ala205GlyfsTer?)
c.579_583del (p.Ala194GlyfsTer?)
11g.2884875G>ACA472832326CDKN1Cn.143-741C>T
c.255+327C>T (n.255+327C>T)
c.615C>T (p.Ala205=)
c.582C>T (p.Ala194=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884875G>CCA472832327CDKN1Cn.143-741C>G
c.255+327C>G (n.255+327C>G)
c.615C>G (p.Ala205=)
c.582C>G (p.Ala194=)
11g.2884875G=CA1948368429CDKN1Cn.143-741C=
c.255+327C= (n.255+327C=)
c.615C= (p.Ala205=)
c.582C= (p.Ala194=)
11g.2884875G>TCA472832330CDKN1Cn.143-741C>A
c.255+327C>A (n.255+327C>A)
c.615C>A (p.Ala205=)
c.582C>A (p.Ala194=)
 ClinVar
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.2884876G>ACA379146296CDKN1Cn.143-742C>T
c.255+326C>T (n.255+326C>T)
c.614C>T (p.Ala205Val)
c.581C>T (p.Ala194Val)
 gnomAD v3 gnomAD v4
11g.2884876G>CCA379146297CDKN1Cn.143-742C>G
c.255+326C>G (n.255+326C>G)
c.614C>G (p.Ala205Gly)
c.581C>G (p.Ala194Gly)
 dbSNP gnomAD v3 gnomAD v4
11g.2884876G=CA1948368431CDKN1Cn.143-742C=
c.255+326C= (n.255+326C=)
c.614C= (p.Ala205=)
c.581C= (p.Ala194=)
11g.2884876G>TCA379146300CDKN1Cn.143-742C>A
c.255+326C>A (n.255+326C>A)
c.614C>A (p.Ala205Asp)
c.581C>A (p.Ala194Asp)
 gnomAD v4
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.2884877C>ACA379146303CDKN1Cn.143-743G>T
c.255+325G>T (n.255+325G>T)
c.613G>T (p.Ala205Ser)
c.580G>T (p.Ala194Ser)
11g.2884877C>GCA379146305CDKN1Cn.143-743G>C
c.255+325G>C (n.255+325G>C)
c.613G>C (p.Ala205Pro)
c.580G>C (p.Ala194Pro)
 gnomAD v4
11g.2884877C>TCA379146308CDKN1Cn.143-743G>A
c.255+325G>A (n.255+325G>A)
c.613G>A (p.Ala205Thr)
c.580G>A (p.Ala194Thr)
 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.2884878C>ACA472832340CDKN1Cn.143-744G>T
c.255+324G>T (n.255+324G>T)
c.612G>T (p.Pro204=)
c.579G>T (p.Pro193=)
 ClinVar dbSNP gnomAD v4
11g.2884878C=CA1948368433CDKN1Cn.143-744G=
c.255+324G= (n.255+324G=)
c.612G= (p.Pro204=)
c.579G= (p.Pro193=)
11g.2884878C>GCA472832342CDKN1Cn.143-744G>C
c.255+324G>C (n.255+324G>C)
c.612G>C (p.Pro204=)
c.579G>C (p.Pro193=)
 ClinVar dbSNP gnomAD v4
11g.2884878C>TCA238549CDKN1Cn.143-744G>A
c.255+324G>A (n.255+324G>A)
c.612G>A (p.Pro204=)
c.579G>A (p.Pro193=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
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.2884879G>ACA379146318CDKN1Cn.143-745C>T
c.255+323C>T (n.255+323C>T)
c.611C>T (p.Pro204Leu)
c.578C>T (p.Pro193Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884879G>CCA216367273CDKN1Cn.143-745C>G
c.255+323C>G (n.255+323C>G)
c.611C>G (p.Pro204Arg)
c.578C>G (p.Pro193Arg)
 ClinVar dbSNP gnomAD v4
11g.2884879G=CA1948368434CDKN1Cn.143-745C=
c.255+323C= (n.255+323C=)
c.611C= (p.Pro204=)
c.578C= (p.Pro193=)
11g.2884879G>TCA379146313CDKN1Cn.143-745C>A
c.255+323C>A (n.255+323C>A)
c.611C>A (p.Pro204Gln)
c.578C>A (p.Pro193Gln)
 ClinVar gnomAD v4
11g.2884879_2884880insCGACTGCA2697548342CDKN1Cn.143-745_143-744insAGTCGC
c.255+323_255+324insAGTCGC (n.255+323_255+324insAGTCGC)
c.611_612insAGTCGC (p.Pro204_Ala205insValAla)
c.578_579insAGTCGC (p.Pro193_Ala194insValAla)
 ClinVar
11g.2884882delCA2573145970CDKN1Cn.143-745del
c.255+323del (n.255+323del)
c.611del (p.Pro204ArgfsTer?)
c.578del (p.Pro193ArgfsTer?)
 ClinVar dbSNP gnomAD v4
11g.2884880_2884882delCA2612014447CDKN1Cn.143-747_143-745del
c.255+321_255+323del (n.255+321_255+323del)
c.609_611del (p.Pro204del)
c.576_578del (p.Pro193del)
 gnomAD v4
11g.2884889_2884890insGGGGGCCGGGGCCA2580615607CDKN1Cn.143-745_143-744insCGCCCCGGCCCC
c.255+323_255+324insCGCCCCGGCCCC (n.255+323_255+324insCGCCCCGGCCCC)
c.611_612insCGCCCCGGCCCC (p.Pro204_Ala205insAlaProAlaPro)
c.578_579insCGCCCCGGCCCC (p.Pro193_Ala194insAlaProAlaPro)
 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.2884880G>ACA379146321CDKN1Cn.143-746C>T
c.255+322C>T (n.255+322C>T)
c.610C>T (p.Pro204Ser)
c.577C>T (p.Pro193Ser)
 dbSNP gnomAD v4
11g.2884880G>CCA379146324CDKN1Cn.143-746C>G
c.255+322C>G (n.255+322C>G)
c.610C>G (p.Pro204Ala)
c.577C>G (p.Pro193Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884880G=CA1948368435CDKN1Cn.143-746C=
c.255+322C= (n.255+322C=)
c.610C= (p.Pro204=)
c.577C= (p.Pro193=)
11g.2884880G>TCA379146322CDKN1Cn.143-746C>A
c.255+322C>A (n.255+322C>A)
c.610C>A (p.Pro204Thr)
c.577C>A (p.Pro193Thr)
 gnomAD v4
11g.2884882_2884883insTCCGGGCA916084228CDKN1Cn.143-746_143-745insGGACCC
c.255+322_255+323insGGACCC (n.255+322_255+323insGGACCC)
c.610_611insGGACCC (p.Ala203_Pro204insArgThr)
c.577_578insGGACCC (p.Ala192_Pro193insArgThr)
11g.2884881G>ACA472832363CDKN1Cn.143-747C>T
c.255+321C>T (n.255+321C>T)
c.609C>T (p.Ala203=)
c.576C>T (p.Ala192=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884881G>CCA472832362CDKN1Cn.143-747C>G
c.255+321C>G (n.255+321C>G)
c.609C>G (p.Ala203=)
c.576C>G (p.Ala192=)
11g.2884881G=CA1948368436CDKN1Cn.143-747C=
c.255+321C= (n.255+321C=)
c.609C= (p.Ala203=)
c.576C= (p.Ala192=)
11g.2884881G>TCA472832360CDKN1Cn.143-747C>A
c.255+321C>A (n.255+321C>A)
c.609C>A (p.Ala203=)
c.576C>A (p.Ala192=)
 ClinVar gnomAD v4
11g.2884882G>ACA379146326CDKN1Cn.143-748C>T
c.255+320C>T (n.255+320C>T)
c.608C>T (p.Ala203Val)
c.575C>T (p.Ala192Val)
 gnomAD v3 gnomAD v4
11g.2884882G>CCA379146328CDKN1Cn.143-748C>G
c.255+320C>G (n.255+320C>G)
c.608C>G (p.Ala203Gly)
c.575C>G (p.Ala192Gly)
11g.2884882G=CA1948368437CDKN1Cn.143-748C=
c.255+320C= (n.255+320C=)
c.608C= (p.Ala203=)
c.575C= (p.Ala192=)
11g.2884882G>TCA379146329CDKN1Cn.143-748C>A
c.255+320C>A (n.255+320C>A)
c.608C>A (p.Ala203Asp)
c.575C>A (p.Ala192Asp)
11g.2884882_2884884delinsGCCCA1948368438CDKN1Cn.143-750_143-748delinsGGC
c.255+318_255+320delinsGGC (n.255+318_255+320delinsGGC)
c.606_608delinsGGC (p.Pro202=)
c.573_575delinsGGC (p.Pro191=)
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.2884883C>ACA379146330CDKN1Cn.143-749G>T
c.255+319G>T (n.255+319G>T)
c.607G>T (p.Ala203Ser)
c.574G>T (p.Ala192Ser)
11g.2884883C>GCA379146332CDKN1Cn.143-749G>C
c.255+319G>C (n.255+319G>C)
c.607G>C (p.Ala203Pro)
c.574G>C (p.Ala192Pro)
 gnomAD v4
11g.2884883C>TCA379146333CDKN1Cn.143-749G>A
c.255+319G>A (n.255+319G>A)
c.607G>A (p.Ala203Thr)
c.574G>A (p.Ala192Thr)
 gnomAD v4
11g.2884883_2884884delCA658821648CDKN1Cn.143-750_143-749del
c.255+318_255+319del (n.255+318_255+319del)
c.606_607del (p.Ala203ProfsTer?)
c.573_574del (p.Ala192ProfsTer?)
 ClinVar dbSNP
11g.2884883_2884886delinsCCGGCA1948368439CDKN1Cn.142+748_143-749delinsCCGG
c.255+316_255+319delinsCCGG (n.255+316_255+319delinsCCGG)
c.604_607delinsCCGG (p.Pro202=)
c.571_574delinsCCGG (p.Pro191=)
11g.2884887_2884888insTCCGGGCA915947941CDKN1Cn.143-749_143-748insACCCGG
c.255+319_255+320insACCCGG (n.255+319_255+320insACCCGG)
c.607_608insACCCGG (p.Pro202_Ala203insAspPro)
c.574_575insACCCGG (p.Pro191_Ala192insAspPro)
 ClinVar dbSNP gnomAD v4
11g.2884884C>ACA472832373CDKN1Cn.143-750G>T
c.255+318G>T (n.255+318G>T)
c.606G>T (p.Pro202=)
c.573G>T (p.Pro191=)
 gnomAD v4
11g.2884884C=CA1948368440CDKN1Cn.143-750G=
c.255+318G= (n.255+318G=)
c.606G= (p.Pro202=)
c.573G= (p.Pro191=)
11g.2884884C>GCA472832374CDKN1Cn.143-750G>C
c.255+318G>C (n.255+318G>C)
c.606G>C (p.Pro202=)
c.573G>C (p.Pro191=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884884C>TCA472832377CDKN1Cn.143-750G>A
c.255+318G>A (n.255+318G>A)
c.606G>A (p.Pro202=)
c.573G>A (p.Pro191=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2884884_2884886delCA918806244CDKN1Cn.142+748_143-750del
c.255+316_255+318del (n.255+316_255+318del)
c.604_606del (p.Pro202del)
c.571_573del (p.Pro191del)
 dbSNP gnomAD v4
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.2884885G>ACA379146335CDKN1Cn.142+749C>T
c.255+317C>T (n.255+317C>T)
c.605C>T (p.Pro202Leu)
c.572C>T (p.Pro191Leu)
 ClinVar gnomAD v4
11g.2884885G>CCA379146337CDKN1Cn.142+749C>G
c.255+317C>G (n.255+317C>G)
c.605C>G (p.Pro202Arg)
c.572C>G (p.Pro191Arg)
 gnomAD v4
11g.2884885G>TCA379146338CDKN1Cn.142+749C>A
c.255+317C>A (n.255+317C>A)
c.605C>A (p.Pro202Gln)
c.572C>A (p.Pro191Gln)
11g.2884888dupCA2697548343CDKN1Cn.142+749dup
c.255+317dup (n.255+317dup)
c.605dup (p.Ala203GlyfsTer?)
c.572dup (p.Ala192GlyfsTer?)
 ClinVar
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.2884886G>ACA379146340CDKN1Cn.142+748C>T
c.255+316C>T (n.255+316C>T)
c.604C>T (p.Pro202Ser)
c.571C>T (p.Pro191Ser)
 gnomAD v4
11g.2884886G>CCA379146342CDKN1Cn.142+748C>G
c.255+316C>G (n.255+316C>G)
c.604C>G (p.Pro202Ala)
c.571C>G (p.Pro191Ala)
 dbSNP gnomAD v4
11g.2884886G=CA1948368442CDKN1Cn.142+748C=
c.255+316C= (n.255+316C=)
c.604C= (p.Pro202=)
c.571C= (p.Pro191=)
11g.2884886G>TCA379146343CDKN1Cn.142+748C>A
c.255+316C>A (n.255+316C>A)
c.604C>A (p.Pro202Thr)
c.571C>A (p.Pro191Thr)
 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.2884887G>ACA472832386CDKN1Cn.142+747C>T
c.255+315C>T (n.255+315C>T)
c.603C>T (p.Ala201=)
c.570C>T (p.Ala190=)
 ClinVar dbSNP gnomAD v4
11g.2884887G>CCA472832390CDKN1Cn.142+747C>G
c.255+315C>G (n.255+315C>G)
c.603C>G (p.Ala201=)
c.570C>G (p.Ala190=)
 ClinVar dbSNP
11g.2884887G=CA1948368443CDKN1Cn.142+747C=
c.255+315C= (n.255+315C=)
c.603C= (p.Ala201=)
c.570C= (p.Ala190=)
11g.2884887G>TCA472832388CDKN1Cn.142+747C>A
c.255+315C>A (n.255+315C>A)
c.603C>A (p.Ala201=)
c.570C>A (p.Ala190=)
 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.2884888G>ACA379146345CDKN1Cn.142+746C>T
c.255+314C>T (n.255+314C>T)
c.602C>T (p.Ala201Val)
c.569C>T (p.Ala190Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2884888G>CCA379146347CDKN1Cn.142+746C>G
c.255+314C>G (n.255+314C>G)
c.602C>G (p.Ala201Gly)
c.569C>G (p.Ala190Gly)
11g.2884888G=CA1948368446CDKN1Cn.142+746C=
c.255+314C= (n.255+314C=)
c.602C= (p.Ala201=)
c.569C= (p.Ala190=)
11g.2884888G>TCA379146346CDKN1Cn.142+746C>A
c.255+314C>A (n.255+314C>A)
c.602C>A (p.Ala201Asp)
c.569C>A (p.Ala190Asp)
 gnomAD v4
11g.2884889_2884890insCGGGGCCGGGGCCGGGGCCGGGGCCGGGGCCGCGACTGGAGCCA2580615608CDKN1Cn.142+746_142+747insTCCAGTCGCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGC
c.255+314_255+315insTCCAGTCGCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGC (n.255+314_255+315insTCCAGTCGCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGC)
c.602_603insTCCAGTCGCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGC (p.Ala201_Pro202insProValAlaAlaProAlaProAlaProAlaProAlaProAla)
c.569_570insTCCAGTCGCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGC (p.Ala190_Pro191insProValAlaAlaProAlaProAlaProAlaProAlaProAla)
 dbSNP
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.2884889C>ACA379146349CDKN1Cn.142+745G>T
c.255+313G>T (n.255+313G>T)
c.601G>T (p.Ala201Ser)
c.568G>T (p.Ala190Ser)
 gnomAD v4
11g.2884889C>GCA379146350CDKN1Cn.142+745G>C
c.255+313G>C (n.255+313G>C)
c.601G>C (p.Ala201Pro)
c.568G>C (p.Ala190Pro)
11g.2884889C>TCA379146352CDKN1Cn.142+745G>A
c.255+313G>A (n.255+313G>A)
c.601G>A (p.Ala201Thr)
c.568G>A (p.Ala190Thr)
 ClinVar dbSNP gnomAD v4
11g.2884889_2884890insCGCGACCA1948368447CDKN1Cn.142+745_142+746insTCGCGG
c.255+313_255+314insTCGCGG (n.255+313_255+314insTCGCGG)
c.601_602insTCGCGG (p.Pro200_Ala201insValAla)
c.568_569insTCGCGG (p.Pro189_Ala190insValAla)
 ClinVar dbSNP
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

Number of alleles fetched