ClinVar Miner

List of variants in gene CDKN1C reported as likely benign for Beckwith-Wiedemann syndrome

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 498
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HGVS dbSNP gnomAD frequency
NM_001122630.2(CDKN1C):c.99C>T (p.Arg33=) rs149717696 0.00208
NM_001122630.2(CDKN1C):c.636C>T (p.Ser212=) rs540923047 0.00143
NM_001122630.2(CDKN1C):c.702G>A (p.Gly234=) rs556682082 0.00065
NM_001122630.2(CDKN1C):c.423G>A (p.Pro141=) rs878853626 0.00044
NM_001122630.2(CDKN1C):c.788-5C>T rs775227462 0.00034
NM_001122630.2(CDKN1C):c.213G>A (p.Val71=) rs141005361 0.00026
NM_001122630.2(CDKN1C):c.303G>C (p.Ala101=) rs931922290 0.00022
NM_001122630.2(CDKN1C):c.411G>A (p.Pro137=) rs878853625 0.00022
NM_001122630.2(CDKN1C):c.669C>G (p.Gly223=) rs546016935 0.00017
NM_001122630.2(CDKN1C):c.551T>C (p.Val184Ala) rs1261515352 0.00016
NM_001122630.2(CDKN1C):c.320C>T (p.Pro107Leu) rs771731330 0.00013
NM_001122630.2(CDKN1C):c.417A>T (p.Pro139=) rs1486402339 0.00010
NM_001122630.2(CDKN1C):c.831G>A (p.Ser277=) rs370564696 0.00009
NM_001122630.2(CDKN1C):c.876C>T (p.Gly292=) rs377216794 0.00009
NM_001122630.2(CDKN1C):c.-1G>T rs780549417 0.00008
NM_001122630.2(CDKN1C):c.615G>A (p.Pro205=) rs1848929968 0.00007
NM_001122630.2(CDKN1C):c.788-4G>T rs764972822 0.00007
NM_001122630.2(CDKN1C):c.276G>T (p.Leu92=) rs764328739 0.00006
NM_001122630.2(CDKN1C):c.57C>T (p.Cys19=) rs759365577 0.00006
NM_001122630.2(CDKN1C):c.294C>G (p.Val98=) rs932963247 0.00004
NM_001122630.2(CDKN1C):c.450T>A (p.Ala150=) rs898729531 0.00004
NM_001122630.2(CDKN1C):c.534T>C (p.Ala178=) rs112196492 0.00004
NM_001122630.2(CDKN1C):c.579G>A (p.Pro193=) rs794726872 0.00004
NM_001122630.2(CDKN1C):c.597C>G (p.Pro199=) rs767656648 0.00004
NM_001122630.2(CDKN1C):c.699G>C (p.Ser233=) rs751650132 0.00004
NM_001122630.2(CDKN1C):c.105G>A (p.Leu35=) rs762337324 0.00003
NM_001122630.2(CDKN1C):c.225G>C (p.Ser75=) rs1015104953 0.00003
NM_001122630.2(CDKN1C):c.351C>T (p.Gly117=) rs1465084800 0.00003
NM_001122630.2(CDKN1C):c.497T>C (p.Val166Ala) rs1288020047 0.00003
NM_001122630.2(CDKN1C):c.546T>C (p.Ala182=) rs1412788622 0.00003
NM_001122630.2(CDKN1C):c.637G>A (p.Ala213Thr) rs528634940 0.00003
NM_001122630.2(CDKN1C):c.750C>A (p.Gly250=) rs762619956 0.00003
NM_001122630.2(CDKN1C):c.885G>C (p.Ser295=) rs1060503861 0.00003
NM_001122630.2(CDKN1C):c.888G>T (p.Val296=) rs763529383 0.00003
NM_001122630.2(CDKN1C):c.138C>T (p.Asp46=) rs777465972 0.00002
NM_001122630.2(CDKN1C):c.459G>A (p.Pro153=) rs1273572500 0.00002
NM_001122630.2(CDKN1C):c.45C>T (p.Arg15=) rs1360965916 0.00002
NM_001122630.2(CDKN1C):c.507G>A (p.Pro169=) rs1419249357 0.00002
NM_001122630.2(CDKN1C):c.51C>T (p.Ser17=) rs1216953646 0.00002
NM_001122630.2(CDKN1C):c.540C>A (p.Ala180=) rs1429391694 0.00002
NM_001122630.2(CDKN1C):c.549A>G (p.Pro183=) rs1340993922 0.00002
NM_001122630.2(CDKN1C):c.553G>C (p.Ala185Pro) rs1281835164 0.00002
NM_001122630.2(CDKN1C):c.654C>T (p.Asn218=) rs1232547627 0.00002
NM_001122630.2(CDKN1C):c.787+19C>T rs752846343 0.00002
NM_001122630.2(CDKN1C):c.798C>T (p.Ala266=) rs939444064 0.00002
NM_001122630.2(CDKN1C):c.-10-12G>C rs1220484886 0.00001
NM_001122630.2(CDKN1C):c.-10-6C>T rs1402537848 0.00001
NM_001122630.2(CDKN1C):c.103C>T (p.Leu35=) rs1183377302 0.00001
NM_001122630.2(CDKN1C):c.111C>T (p.Ala37=) rs769255937 0.00001
NM_001122630.2(CDKN1C):c.117G>C (p.Leu39=) rs1217573321 0.00001
NM_001122630.2(CDKN1C):c.156C>T (p.Tyr52=) rs754972138 0.00001
NM_001122630.2(CDKN1C):c.186C>T (p.Gly62=) rs756321814 0.00001
NM_001122630.2(CDKN1C):c.18C>T (p.Ala6=) rs556519658 0.00001
NM_001122630.2(CDKN1C):c.282G>A (p.Ala94=) rs1848966585 0.00001
NM_001122630.2(CDKN1C):c.291C>T (p.Pro97=) rs534471786 0.00001
NM_001122630.2(CDKN1C):c.297G>T (p.Ala99=) rs923004197 0.00001
NM_001122630.2(CDKN1C):c.312C>A (p.Val104=) rs770277810 0.00001
NM_001122630.2(CDKN1C):c.318G>A (p.Pro106=) rs1348631478 0.00001
NM_001122630.2(CDKN1C):c.354C>T (p.Leu118=) rs1426804435 0.00001
NM_001122630.2(CDKN1C):c.363G>A (p.Ala121=) rs1424698883 0.00001
NM_001122630.2(CDKN1C):c.396C>T (p.Ala132=) rs1590150527 0.00001
NM_001122630.2(CDKN1C):c.435A>G (p.Pro145=) rs1381073956 0.00001
NM_001122630.2(CDKN1C):c.447G>A (p.Pro149=) rs1848950632 0.00001
NM_001122630.2(CDKN1C):c.453G>A (p.Pro151=) rs1262607893 0.00001
NM_001122630.2(CDKN1C):c.465G>A (p.Ala155=) rs1361624164 0.00001
NM_001122630.2(CDKN1C):c.492C>G (p.Val164=) rs878853628 0.00001
NM_001122630.2(CDKN1C):c.528T>C (p.Ala176=) rs384713 0.00001
NM_001122630.2(CDKN1C):c.564C>T (p.Ala188=) rs1554937891 0.00001
NM_001122630.2(CDKN1C):c.582C>T (p.Ala194=) rs1368082798 0.00001
NM_001122630.2(CDKN1C):c.585G>A (p.Pro195=) rs1060503858 0.00001
NM_001122630.2(CDKN1C):c.60C>T (p.Arg20=) rs1401021547 0.00001
NM_001122630.2(CDKN1C):c.630A>G (p.Gln210=) rs1848928119 0.00001
NM_001122630.2(CDKN1C):c.660G>A (p.Gly220=) rs1554937788 0.00001
NM_001122630.2(CDKN1C):c.6G>A (p.Glu2=) rs1416264447 0.00001
NM_001122630.2(CDKN1C):c.708G>A (p.Ser236=) rs1404692297 0.00001
NM_001122630.2(CDKN1C):c.729C>G (p.Thr243=) rs1198470133 0.00001
NM_001122630.2(CDKN1C):c.756G>C (p.Ala252=) rs1269967508 0.00001
NM_001122630.2(CDKN1C):c.768G>A (p.Leu256=) rs745815931 0.00001
NM_001122630.2(CDKN1C):c.777T>G (p.Pro259=) rs1395099180 0.00001
NM_001122630.2(CDKN1C):c.787+10G>A rs777855717 0.00001
NM_001122630.2(CDKN1C):c.795C>T (p.Phe265=) rs1258265872 0.00001
NM_001122630.2(CDKN1C):c.855C>T (p.Pro285=) rs779172459 0.00001
NM_001122630.2(CDKN1C):c.897C>A (p.Thr299=) rs1405293895 0.00001
NM_001122630.2(CDKN1C):c.917G>A (p.Ter306=) rs1363802623 0.00001
NM_001122630.2(CDKN1C):c.*5+19_*5+20insA rs757091712
NM_001122630.2(CDKN1C):c.-10-12G>A rs1220484886
NM_001122630.2(CDKN1C):c.-10-15C>T rs1352961367
NM_001122630.2(CDKN1C):c.-10-18C>T rs1050335121
NM_001122630.2(CDKN1C):c.-10-9C>T rs878853624
NM_001122630.2(CDKN1C):c.-10C>T rs2133786702
NM_001122630.2(CDKN1C):c.-4C>G
NM_001122630.2(CDKN1C):c.-4C>T
NM_001122630.2(CDKN1C):c.-7A>C
NM_001122630.2(CDKN1C):c.105G>T (p.Leu35=) rs762337324
NM_001122630.2(CDKN1C):c.108G>A (p.Gln36=) rs1060503856
NM_001122630.2(CDKN1C):c.115C>T (p.Leu39=) rs2133786132
NM_001122630.2(CDKN1C):c.120C>T (p.Ala40=) rs776240688
NM_001122630.2(CDKN1C):c.126G>T (p.Leu42=)
NM_001122630.2(CDKN1C):c.132C>G (p.Ala44=) rs546920371
NM_001122630.2(CDKN1C):c.132C>T (p.Ala44=) rs546920371
NM_001122630.2(CDKN1C):c.135G>A (p.Glu45=)
NM_001122630.2(CDKN1C):c.159C>T (p.Asp53=) rs1848973484
NM_001122630.2(CDKN1C):c.15C>T (p.Val5=) rs1172216105
NM_001122630.2(CDKN1C):c.162C>T (p.Phe54=)
NM_001122630.2(CDKN1C):c.171C>T (p.Asp57=) rs1554938190
NM_001122630.2(CDKN1C):c.177G>A (p.Pro59=) rs1441014990
NM_001122630.2(CDKN1C):c.177G>T (p.Pro59=) rs1441014990
NM_001122630.2(CDKN1C):c.178C>T (p.Leu60=) rs2133785831
NM_001122630.2(CDKN1C):c.195C>G (p.Arg65=)
NM_001122630.2(CDKN1C):c.195C>T (p.Arg65=) rs2133785747
NM_001122630.2(CDKN1C):c.207C>A (p.Thr69=)
NM_001122630.2(CDKN1C):c.207C>G (p.Thr69=) rs1310156157
NM_001122630.2(CDKN1C):c.207C>T (p.Thr69=) rs1310156157
NM_001122630.2(CDKN1C):c.216C>T (p.Asp72=) rs1848971070
NM_001122630.2(CDKN1C):c.219C>T (p.Ser73=) rs1295465465
NM_001122630.2(CDKN1C):c.231C>T (p.Pro77=) rs1008606799
NM_001122630.2(CDKN1C):c.237C>T (p.Phe79=) rs2133785564
NM_001122630.2(CDKN1C):c.240C>T (p.Tyr80=) rs2133785556
NM_001122630.2(CDKN1C):c.243C>G (p.Arg81=)
NM_001122630.2(CDKN1C):c.246G>A (p.Glu82=) rs1191356849
NM_001122630.2(CDKN1C):c.249G>A (p.Thr83=) rs1848969301
NM_001122630.2(CDKN1C):c.249G>T (p.Thr83=) rs1848969301
NM_001122630.2(CDKN1C):c.24G>A (p.Gly8=) rs1590151650
NM_001122630.2(CDKN1C):c.252G>A (p.Val84=) rs1291600206
NM_001122630.2(CDKN1C):c.255G>A (p.Gln85=) rs1848968928
NM_001122630.2(CDKN1C):c.261G>C (p.Gly87=) rs1590150966
NM_001122630.2(CDKN1C):c.270C>T (p.Arg90=) rs1327772173
NM_001122630.2(CDKN1C):c.271C>T (p.Leu91=) rs1590150922
NM_001122630.2(CDKN1C):c.274C>T (p.Leu92=)
NM_001122630.2(CDKN1C):c.277C>T (p.Leu93=)
NM_001122630.2(CDKN1C):c.282G>T (p.Ala94=)
NM_001122630.2(CDKN1C):c.291C>A (p.Pro97=) rs534471786
NM_001122630.2(CDKN1C):c.291C>G (p.Pro97=) rs534471786
NM_001122630.2(CDKN1C):c.297G>A (p.Ala99=)
NM_001122630.2(CDKN1C):c.300C>A (p.Val100=) rs1451014097
NM_001122630.2(CDKN1C):c.300C>T (p.Val100=) rs1451014097
NM_001122630.2(CDKN1C):c.303G>T (p.Ala101=) rs931922290
NM_001122630.2(CDKN1C):c.306G>C (p.Val102=) rs904430375
NM_001122630.2(CDKN1C):c.306G>T (p.Val102=)
NM_001122630.2(CDKN1C):c.312C>G (p.Val104=) rs770277810
NM_001122630.2(CDKN1C):c.312C>T (p.Val104=) rs770277810
NM_001122630.2(CDKN1C):c.315C>T (p.Ser105=) rs1489450203
NM_001122630.2(CDKN1C):c.321C>T (p.Pro107=)
NM_001122630.2(CDKN1C):c.324C>A (p.Leu108=)
NM_001122630.2(CDKN1C):c.324C>T (p.Leu108=) rs1060503864
NM_001122630.2(CDKN1C):c.330G>A (p.Pro110=)
NM_001122630.2(CDKN1C):c.333C>A (p.Ala111=) rs1554938097
NM_001122630.2(CDKN1C):c.333C>T (p.Ala111=) rs1554938097
NM_001122630.2(CDKN1C):c.342C>T (p.Ser114=) rs1404253864
NM_001122630.2(CDKN1C):c.348C>T (p.Asp116=)
NM_001122630.2(CDKN1C):c.366G>A (p.Pro122=) rs1157920703
NM_001122630.2(CDKN1C):c.373C>T (p.Leu125=) rs2133784894
NM_001122630.2(CDKN1C):c.37C>T (p.Leu13=) rs2133786544
NM_001122630.2(CDKN1C):c.384C>T (p.Val128=) rs2133784870
NM_001122630.2(CDKN1C):c.387G>A (p.Pro129=)
NM_001122630.2(CDKN1C):c.387G>C (p.Pro129=) rs1590150548
NM_001122630.2(CDKN1C):c.393G>A (p.Pro131=)
NM_001122630.2(CDKN1C):c.393G>T (p.Pro131=) rs1258844642
NM_001122630.2(CDKN1C):c.399G>A (p.Pro133=) rs1848956208
NM_001122630.2(CDKN1C):c.402G>A (p.Ala134=) rs1848955478
NM_001122630.2(CDKN1C):c.405C>G (p.Ser135=) rs1554938064
NM_001122630.2(CDKN1C):c.405C>T (p.Ser135=)
NM_001122630.2(CDKN1C):c.408C>T (p.Thr136=) rs1590150476
NM_001122630.2(CDKN1C):c.411G>T (p.Pro137=) rs878853625
NM_001122630.2(CDKN1C):c.414C>A (p.Pro138=)
NM_001122630.2(CDKN1C):c.414_431del (p.Val140_Pro145del) rs1159599818
NM_001122630.2(CDKN1C):c.417A>C (p.Pro139=) rs1486402339
NM_001122630.2(CDKN1C):c.417A>G (p.Pro139=)
NM_001122630.2(CDKN1C):c.417_440del (p.Val140_Pro147del)
NM_001122630.2(CDKN1C):c.419_436dup (p.Val140_Pro145dup) rs2133784606
NM_001122630.2(CDKN1C):c.420C>T (p.Val140=) rs2133784683
NM_001122630.2(CDKN1C):c.421_552del (p.Pro141_Val184del) rs2133783577
NM_001122630.2(CDKN1C):c.423G>T (p.Pro141=) rs878853626
NM_001122630.2(CDKN1C):c.429G>A (p.Leu143=)
NM_001122630.2(CDKN1C):c.432_437del (p.144AP[4]) rs2133784597
NM_001122630.2(CDKN1C):c.432_503del (p.Val154_Pro177del) rs2133784058
NM_001122630.2(CDKN1C):c.435A>T (p.Pro145=) rs1381073956
NM_001122630.2(CDKN1C):c.435_440del (p.144AP[4]) rs2133784574
NM_001122630.2(CDKN1C):c.435_452del (p.144AP[2]) rs2133784486
NM_001122630.2(CDKN1C):c.435_452dup (p.144AP[8]) rs2133784486
NM_001122630.2(CDKN1C):c.435_464del (p.Ala148_Pro157del)
NM_001122630.2(CDKN1C):c.438C>T (p.Ala146=) rs1848951746
NM_001122630.2(CDKN1C):c.438CCCGGC[1] (p.144AP[4]) rs1301544231
NM_001122630.2(CDKN1C):c.438CCCGGC[3] (p.144AP[6]) rs1301544231
NM_001122630.2(CDKN1C):c.438_449del (p.144_145AP[3]) rs1301544231
NM_001122630.2(CDKN1C):c.441G>A (p.Pro147=) rs2133784568
NM_001122630.2(CDKN1C):c.443_460del (p.144AP[2]) rs1469652745
NM_001122630.2(CDKN1C):c.444C>A (p.Ala148=) rs1590150329
NM_001122630.2(CDKN1C):c.444_455del (p.144AP[3]) rs1848949623
NM_001122630.2(CDKN1C):c.444_467del (p.Ala150_Pro157del) rs2133784373
NM_001122630.2(CDKN1C):c.444_521del (p.Val154_Pro179del)
NM_001122630.2(CDKN1C):c.447G>T (p.Pro149=)
NM_001122630.2(CDKN1C):c.449CTCCGG[1] (p.144AP[4]) rs1245402442
NM_001122630.2(CDKN1C):c.449_484del (p.Ala150_Pro161del) rs1848947221
NM_001122630.2(CDKN1C):c.450T>C (p.Ala150=) rs898729531
NM_001122630.2(CDKN1C):c.450_509del (p.Val154_Pro173del) rs2133784002
NM_001122630.2(CDKN1C):c.450_515del (p.Val154_Pro175del)
NM_001122630.2(CDKN1C):c.455CTCCGGTCGCGG[1] (p.152APVA[1]) rs565544512
NM_001122630.2(CDKN1C):c.455CTCCGGTCGCGG[4] (p.152APVA[4]) rs565544512
NM_001122630.2(CDKN1C):c.455CTCCGGTCGCGG[5] (p.152APVA[5]) rs565544512
NM_001122630.2(CDKN1C):c.455_472del (p.Ala152_Pro157del) rs1554937999
NM_001122630.2(CDKN1C):c.456T>C (p.Ala152=) rs1348424255
NM_001122630.2(CDKN1C):c.456T>G (p.Ala152=) rs1348424255
NM_001122630.2(CDKN1C):c.456_463delinsCCCGGCTC (p.Val154_Ala155delinsAlaPro) rs2133784405
NM_001122630.2(CDKN1C):c.459G>C (p.Pro153=)
NM_001122630.2(CDKN1C):c.461_466del (p.Val154_Ala155del) rs878853627
NM_001122630.2(CDKN1C):c.461_538del (p.Val154_Pro179del) rs2133783770
NM_001122630.2(CDKN1C):c.462C>G (p.Val154=) rs1252011332
NM_001122630.2(CDKN1C):c.464_465insAGCTCCGGTCGC (p.152APVA[4]) rs2133784396
NM_001122630.2(CDKN1C):c.467_496del (p.Ala156_Ala165del) rs2133784129
NM_001122630.2(CDKN1C):c.471G>A (p.Pro157=)
NM_001122630.2(CDKN1C):c.471G>T (p.Pro157=)
NM_001122630.2(CDKN1C):c.473_478del (p.Val158_Ala159del) rs2133784288
NM_001122630.2(CDKN1C):c.473_526del (p.Val158_Pro175del) rs2133783883
NM_001122630.2(CDKN1C):c.473_538del (p.Val158_Pro179del) rs2133783763
NM_001122630.2(CDKN1C):c.474C>A (p.Val158=)
NM_001122630.2(CDKN1C):c.474C>G (p.Val158=) rs2133784308
NM_001122630.2(CDKN1C):c.477G>A (p.Ala159=)
NM_001122630.2(CDKN1C):c.479_484del (p.Ala160_Pro161del) rs1324090653
NM_001122630.2(CDKN1C):c.479_496del (p.Ala160_Ala165del) rs1064792992
NM_001122630.2(CDKN1C):c.480T>C (p.Ala160=) rs1463366525
NM_001122630.2(CDKN1C):c.480T>G (p.Ala160=) rs1463366525
NM_001122630.2(CDKN1C):c.485_508dup (p.Val162_Pro169dup) rs2133784011
NM_001122630.2(CDKN1C):c.487GCGGTC[1] (p.163AV[1]) rs889984547
NM_001122630.2(CDKN1C):c.487GCGGTC[3] (p.163AV[3]) rs889984547
NM_001122630.2(CDKN1C):c.489G>C (p.Ala163=)
NM_001122630.2(CDKN1C):c.490_491insC (p.Val164fs) rs2133784176
NM_001122630.2(CDKN1C):c.490_491insCTCCGG (p.Ala163_Val164insAlaPro) rs2133784179
NM_001122630.2(CDKN1C):c.491_512delinsCTCCGGTCGCGGTCGCGGTCCT (p.Val164_Pro171delinsAlaProValAlaValAlaValLeu) rs2133783981
NM_001122630.2(CDKN1C):c.492C>T (p.Val164=)
NM_001122630.2(CDKN1C):c.493G>C (p.Ala165Pro)
NM_001122630.2(CDKN1C):c.493_494delinsCT (p.Ala165Leu) rs1554937984
NM_001122630.2(CDKN1C):c.493_500delinsCTGGCCCC (p.Ala165_Leu167delinsLeuAlaPro)
NM_001122630.2(CDKN1C):c.495G>A (p.Ala165=) rs533485167
NM_001122630.2(CDKN1C):c.495G>T (p.Ala165=) rs533485167
NM_001122630.2(CDKN1C):c.500_511del (p.Leu167_Ala170del) rs2133783984
NM_001122630.2(CDKN1C):c.500_567delinsCGGCCCCG (p.Leu167_Ala186del)
NM_001122630.2(CDKN1C):c.501G>C (p.Leu167=) rs2133784073
NM_001122630.2(CDKN1C):c.504C>T (p.Ala168=) rs1590150029
NM_001122630.2(CDKN1C):c.504CCCGGC[1] (p.168AP[6]) rs878853629
NM_001122630.2(CDKN1C):c.504CCCGGC[4] (p.168AP[9]) rs878853629
NM_001122630.2(CDKN1C):c.504CCCGGC[5] (p.168AP[10]) rs878853629
NM_001122630.2(CDKN1C):c.504_521del (p.168_169AP[5]) rs878853629
NM_001122630.2(CDKN1C):c.504_527del (p.168AP[4]) rs2068024620
NM_001122630.2(CDKN1C):c.505_506insGGGCCC (p.Ala168_Pro169insArgAla) rs2133784029
NM_001122630.2(CDKN1C):c.510C>A (p.Ala170=) rs1476496963
NM_001122630.2(CDKN1C):c.510C>T (p.Ala170=) rs1476496963
NM_001122630.2(CDKN1C):c.510_527del (p.168_169AP[5]) rs1064792991
NM_001122630.2(CDKN1C):c.510_533del (p.168_169AP[4]) rs1486933065
NM_001122630.2(CDKN1C):c.510_533dup (p.168_169AP[12]) rs1486933065
NM_001122630.2(CDKN1C):c.516C>T (p.Ala172=) rs1462682672
NM_001122630.2(CDKN1C):c.516TCCGGC[3] (p.168AP[11]) rs2133783969
NM_001122630.2(CDKN1C):c.516_527del (p.168_169AP[6]) rs1249284743
NM_001122630.2(CDKN1C):c.516_533del (p.168AP[5]) rs1848942217
NM_001122630.2(CDKN1C):c.516_545del (p.168AP[3]) rs1848940267
NM_001122630.2(CDKN1C):c.519G>A (p.Pro173=)
NM_001122630.2(CDKN1C):c.519_566del (p.Val184_Pro199del) rs1590149676
NM_001122630.2(CDKN1C):c.519_596del (p.Ala180_Pro205del) rs2133783065
NM_001122630.2(CDKN1C):c.521_522insCCCGGCTCCGGC (p.168_169AP[10]) rs1590149942
NM_001122630.2(CDKN1C):c.522TCCGGC[1] (p.168AP[6]) rs878853632
NM_001122630.2(CDKN1C):c.522TCCGGC[4] (p.168AP[9]) rs878853632
NM_001122630.2(CDKN1C):c.522TCCGGC[5] (p.168AP[10]) rs878853632
NM_001122630.2(CDKN1C):c.522TCCGGC[6] (p.168AP[11]) rs878853632
NM_001122630.2(CDKN1C):c.522_526del (p.Pro175fs) rs1590149916
NM_001122630.2(CDKN1C):c.522_539del (p.168AP[5]) rs878853632
NM_001122630.2(CDKN1C):c.522_567delinsCCCGGCTCCGGCTCCGGCCCCGGCTCCAGTCGCG (p.186AP[8]) rs2133783382
NM_001122630.2(CDKN1C):c.522_587del (p.Val184_Pro205del)
NM_001122630.2(CDKN1C):c.522_587dup (p.Val184_Pro205dup) rs2133783144
NM_001122630.2(CDKN1C):c.522_593dup (p.Pro205_Asp206insAlaProValAlaAlaProAlaProAlaProAlaProAlaProAlaProAlaProAlaProAlaProAlaPro)
NM_001122630.2(CDKN1C):c.522delinsCCCGGCC (p.Pro183_Val184insAlaPro)
NM_001122630.2(CDKN1C):c.522delinsCCCGGCTCCGGCTCCGGCC (p.Pro183_Val184insAlaProAlaProAlaPro)
NM_001122630.2(CDKN1C):c.525G>A (p.Pro175=) rs1554937948
NM_001122630.2(CDKN1C):c.525_548del (p.168_169AP[4]) rs878853630
NM_001122630.2(CDKN1C):c.525_548dup (p.168_169AP[12]) rs878853630
NM_001122630.2(CDKN1C):c.527_528insCCCGGC (p.168_169AP[9]) rs878853631
NM_001122630.2(CDKN1C):c.527_528insCCCGGCCCCGGC (p.168_169AP[10]) rs878853631
NM_001122630.2(CDKN1C):c.528CCCGGC[3] (p.168AP[11]) rs878853631
NM_001122630.2(CDKN1C):c.528T>A (p.Ala176=) rs384713
NM_001122630.2(CDKN1C):c.528del (p.Pro177fs) rs1590149885
NM_001122630.2(CDKN1C):c.531_548del (p.168_169AP[5]) rs1590149766
NM_001122630.2(CDKN1C):c.531_548dup (p.168_169AP[11]) rs1590149766
NM_001122630.2(CDKN1C):c.534_557del (p.Val184_Pro191del) rs2133783521
NM_001122630.2(CDKN1C):c.534_563del (p.Val184_Pro193del) rs2133783458
NM_001122630.2(CDKN1C):c.534_563dup (p.Val184_Pro193dup) rs2133783458
NM_001122630.2(CDKN1C):c.536_537insAGTCGC (p.Pro179_Ala180insValAla) rs1848941810
NM_001122630.2(CDKN1C):c.537G>C (p.Pro179=) rs550978405
NM_001122630.2(CDKN1C):c.537_548del (p.168AP[6]) rs997267634
NM_001122630.2(CDKN1C):c.537_548dup (p.168_169AP[10]) rs997267634
NM_001122630.2(CDKN1C):c.539_540insTCCGTC (p.Pro181_Ala182insSerPro) rs1590149802
NM_001122630.2(CDKN1C):c.540C>T (p.Ala180=)
NM_001122630.2(CDKN1C):c.540_545dup (p.168_169AP[9]) rs1302209410
NM_001122630.2(CDKN1C):c.543G>A (p.Pro181=) rs2133783693
NM_001122630.2(CDKN1C):c.543_566del (p.Val184_Pro191del) rs1564929761
NM_001122630.2(CDKN1C):c.545_546insCCCGGCCCCGGCTCCGGCTCCGGCCCCGGC (p.Pro183_Val184insAlaProAlaProAlaProAlaProAlaPro)
NM_001122630.2(CDKN1C):c.546_557del (p.Val184_Pro187del) rs2133783507
NM_001122630.2(CDKN1C):c.546_563del (p.Val184_Pro189del) rs1203797892
NM_001122630.2(CDKN1C):c.546_563dup (p.Val184_Pro189dup) rs1203797892
NM_001122630.2(CDKN1C):c.546_569del (p.Val184_Pro191del) rs1590149645
NM_001122630.2(CDKN1C):c.546_579delinsCCCA (p.Val184_Pro193del) rs2133783226
NM_001122630.2(CDKN1C):c.546_581del (p.Val184_Pro195del) rs1554937877
NM_001122630.2(CDKN1C):c.546_587dup (p.Val184_Pro197dup) rs2133783134
NM_001122630.2(CDKN1C):c.546_611del (p.Val184_Pro205del)
NM_001122630.2(CDKN1C):c.549A>T (p.Pro183=) rs1340993922
NM_001122630.2(CDKN1C):c.549_554del (p.Val184_Ala185del)
NM_001122630.2(CDKN1C):c.54C>G (p.Ala18=)
NM_001122630.2(CDKN1C):c.54C>T (p.Ala18=)
NM_001122630.2(CDKN1C):c.551_568del (p.Val184_Pro189del)
NM_001122630.2(CDKN1C):c.551_580del (p.Val184_Pro193del) rs2133783214
NM_001122630.2(CDKN1C):c.552C>G (p.Val184=)
NM_001122630.2(CDKN1C):c.552C>T (p.Val184=) rs1590149737
NM_001122630.2(CDKN1C):c.553_570dup (p.Ala185_Ala190dup) rs2133783326
NM_001122630.2(CDKN1C):c.555G>A (p.Ala185=) rs878853633
NM_001122630.2(CDKN1C):c.555G>C (p.Ala185=)
NM_001122630.2(CDKN1C):c.555G>T (p.Ala185=) rs878853633
NM_001122630.2(CDKN1C):c.555GGCCCC[1] (p.186AP[9]) rs1060503855
NM_001122630.2(CDKN1C):c.555GGCCCC[3] (p.186AP[11]) rs1060503855
NM_001122630.2(CDKN1C):c.555_566del (p.186AP[8]) rs1060503855
NM_001122630.2(CDKN1C):c.556_557insTCGCGGTCCTGGCCCCGG (p.Ala185_Ala186insValAlaValLeuAlaPro) rs2133783534
NM_001122630.2(CDKN1C):c.558C>T (p.Ala186=) rs1590149701
NM_001122630.2(CDKN1C):c.560_561insAGCCCC (p.186AP[11]) rs1848937405
NM_001122630.2(CDKN1C):c.561G>A (p.Pro187=) rs1848937184
NM_001122630.2(CDKN1C):c.561G>C (p.Pro187=)
NM_001122630.2(CDKN1C):c.563_578delinsTCGCAGTCGCGGTCCT (p.Ala188_Pro193delinsValAlaValAlaValLeu)
NM_001122630.2(CDKN1C):c.566_567insGGCCCCGGCTCCGGCTCCGGCCCCGGCTCCAGTCGCGGCCCCGGCCCC (p.Val184_Pro199dup) rs2133783423
NM_001122630.2(CDKN1C):c.567A>C (p.Pro189=) rs529326848
NM_001122630.2(CDKN1C):c.567_572del (p.186_187AP[9]) rs1060503860
NM_001122630.2(CDKN1C):c.567_572dup (p.186_187AP[11]) rs1060503860
NM_001122630.2(CDKN1C):c.567_578del (p.186_187AP[8]) rs878853634
NM_001122630.2(CDKN1C):c.567_578dup (p.186_187AP[12]) rs878853634
NM_001122630.2(CDKN1C):c.567_584dup (p.186AP[13]) rs878853636
NM_001122630.2(CDKN1C):c.567_590del (p.186_187AP[6]) rs878853637
NM_001122630.2(CDKN1C):c.567_590dup (p.186_187AP[14]) rs878853637
NM_001122630.2(CDKN1C):c.567_596del (p.186_187AP[5]) rs1064792990
NM_001122630.2(CDKN1C):c.567_596dup (p.186_187AP[15]) rs1064792990
NM_001122630.2(CDKN1C):c.567_602del (p.186AP[4])
NM_001122630.2(CDKN1C):c.567_608del (p.186AP[3]) rs2133782940
NM_001122630.2(CDKN1C):c.567_608dup (p.Pro205_Asp206insAlaProAlaProAlaProAlaProAlaProAlaProAlaPro)
NM_001122630.2(CDKN1C):c.567_614del (p.186AP[2]) rs2133782879
NM_001122630.2(CDKN1C):c.569_570insTCCAGTCGCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGC (p.186_191AP[3]VAAPAPAPAPAPAP[1]) rs2133783340
NM_001122630.2(CDKN1C):c.570C>T (p.Ala190=) rs1590149634
NM_001122630.2(CDKN1C):c.573G>A (p.Pro191=) rs1396908491
NM_001122630.2(CDKN1C):c.573G>C (p.Pro191=) rs1396908491
NM_001122630.2(CDKN1C):c.573GGCCCC[10] (p.186AP[16]) rs759134767
NM_001122630.2(CDKN1C):c.573GGCCCC[1] (p.186AP[7]) rs759134767
NM_001122630.2(CDKN1C):c.573GGCCCC[3] (p.186AP[9]) rs759134767
NM_001122630.2(CDKN1C):c.573GGCCCC[6] (p.186AP[12]) rs759134767
NM_001122630.2(CDKN1C):c.573GGCCCC[7] (p.186AP[13]) rs759134767
NM_001122630.2(CDKN1C):c.573GGCCCC[8] (p.186AP[14]) rs759134767
NM_001122630.2(CDKN1C):c.573GGCCCC[9] (p.186AP[15]) rs759134767
NM_001122630.2(CDKN1C):c.574_575insACCCGG (p.Pro191_Ala192insAspPro) rs1590149612
NM_001122630.2(CDKN1C):c.575_616dup (p.186AP[17]) rs878853638
NM_001122630.2(CDKN1C):c.576C>A (p.Ala192=)
NM_001122630.2(CDKN1C):c.576C>T (p.Ala192=)
NM_001122630.2(CDKN1C):c.578_579insCGCCCCGGCCCC (p.186AP[12]) rs2133783254
NM_001122630.2(CDKN1C):c.579G>C (p.Pro193=) rs794726872
NM_001122630.2(CDKN1C):c.579G>T (p.Pro193=) rs794726872
NM_001122630.2(CDKN1C):c.582C>A (p.Ala194=)
NM_001122630.2(CDKN1C):c.585G>C (p.Pro195=) rs1060503858
NM_001122630.2(CDKN1C):c.587_616del (p.186_187AP[5]) rs878853638
NM_001122630.2(CDKN1C):c.587_616dup (p.186_187AP[15]) rs878853638
NM_001122630.2(CDKN1C):c.588C>T (p.Ala196=) rs1590149525
NM_001122630.2(CDKN1C):c.591G>A (p.Pro197=)
NM_001122630.2(CDKN1C):c.593_616dup (p.186_187AP[14]) rs778468310
NM_001122630.2(CDKN1C):c.594C>A (p.Ala198=)
NM_001122630.2(CDKN1C):c.594C>T (p.Ala198=) rs1060503866
NM_001122630.2(CDKN1C):c.596_597insGGCCCCGGCCCCGGCCCCGGCCCCCGCCCCGGCCCCGGCCCCGGCCCCGGCCCC (p.186AP[19])
NM_001122630.2(CDKN1C):c.597C>T (p.Pro199=) rs767656648
NM_001122630.2(CDKN1C):c.597_602del (p.186_187AP[9]) rs786205238
NM_001122630.2(CDKN1C):c.597_602dup (p.186_187AP[11]) rs786205238
NM_001122630.2(CDKN1C):c.597_608del (p.186_187AP[8]) rs1380480846
NM_001122630.2(CDKN1C):c.597_608dup (p.186_187AP[12]) rs1380480846
NM_001122630.2(CDKN1C):c.597_614del (p.186_187AP[7]) rs747360016
NM_001122630.2(CDKN1C):c.597_614dup (p.186AP[13]) rs747360016
NM_001122630.2(CDKN1C):c.599CCCCGG[1] (p.186AP[8]) rs772704243
NM_001122630.2(CDKN1C):c.599CCCCGG[2] (p.186AP[9]) rs772704243
NM_001122630.2(CDKN1C):c.599CCCCGG[4] (p.186AP[11]) rs772704243
NM_001122630.2(CDKN1C):c.599_600insACCGGC (p.186_187AP[11]) rs771450542
NM_001122630.2(CDKN1C):c.599_616del (p.186AP[7]) rs772704243
NM_001122630.2(CDKN1C):c.600C>A (p.Ala200=) rs1435370896
NM_001122630.2(CDKN1C):c.601_602insAGGCCC (p.Ala200_Pro201insGlnAla) rs2133782983
NM_001122630.2(CDKN1C):c.606C>T (p.Ala202=)
NM_001122630.2(CDKN1C):c.609G>T (p.Pro203=) rs1214673011
NM_001122630.2(CDKN1C):c.60C>G (p.Arg20=) rs1401021547
NM_001122630.2(CDKN1C):c.614_615insCGCCCC (p.186AP[11]) rs2133782868
NM_001122630.2(CDKN1C):c.618C>T (p.Asp206=) rs751669088
NM_001122630.2(CDKN1C):c.621G>C (p.Ala207=) rs1848929025
NM_001122630.2(CDKN1C):c.624G>A (p.Ala208=)
NM_001122630.2(CDKN1C):c.624G>T (p.Ala208=) rs764536797
NM_001122630.2(CDKN1C):c.639C>G (p.Ala213=)
NM_001122630.2(CDKN1C):c.639C>T (p.Ala213=) rs1350387177
NM_001122630.2(CDKN1C):c.63C>T (p.Ser21=) rs1287644577
NM_001122630.2(CDKN1C):c.642G>A (p.Glu214=) rs2133782678
NM_001122630.2(CDKN1C):c.643C>G (p.Gln215Glu) rs483352987
NM_001122630.2(CDKN1C):c.651G>A (p.Ala217=) rs761539484
NM_001122630.2(CDKN1C):c.651G>T (p.Ala217=) rs761539484
NM_001122630.2(CDKN1C):c.660G>C (p.Gly220=) rs1554937788
NM_001122630.2(CDKN1C):c.660G>T (p.Gly220=) rs1554937788
NM_001122630.2(CDKN1C):c.666C>T (p.Arg222=) rs779975908
NM_001122630.2(CDKN1C):c.66C>T (p.Leu22=) rs960994716
NM_001122630.2(CDKN1C):c.681C>A (p.Leu227=) rs1349273076
NM_001122630.2(CDKN1C):c.681C>G (p.Leu227=) rs1349273076
NM_001122630.2(CDKN1C):c.681C>T (p.Leu227=) rs1349273076
NM_001122630.2(CDKN1C):c.684T>C (p.Ala228=) rs757359164
NM_001122630.2(CDKN1C):c.691C>T (p.Leu231=)
NM_001122630.2(CDKN1C):c.69C>T (p.Phe23=) rs1590151526
NM_001122630.2(CDKN1C):c.708G>T (p.Ser236=) rs1404692297
NM_001122630.2(CDKN1C):c.714T>A (p.Arg238=)
NM_001122630.2(CDKN1C):c.717C>A (p.Pro239=) rs1156886923
NM_001122630.2(CDKN1C):c.717C>T (p.Pro239=)
NM_001122630.2(CDKN1C):c.720G>A (p.Ala240=) rs1848920006
NM_001122630.2(CDKN1C):c.729C>T (p.Thr243=) rs1198470133
NM_001122630.2(CDKN1C):c.72G>A (p.Gly24=) rs2133786339
NM_001122630.2(CDKN1C):c.72G>T (p.Gly24=) rs2133786339
NM_001122630.2(CDKN1C):c.735C>A (p.Ala245=)
NM_001122630.2(CDKN1C):c.735C>T (p.Ala245=) rs2133782212
NM_001122630.2(CDKN1C):c.738C>G (p.Ala246=) rs2133782169
NM_001122630.2(CDKN1C):c.738C>T (p.Ala246=)
NM_001122630.2(CDKN1C):c.741C>T (p.Ser247=) rs761296394
NM_001122630.2(CDKN1C):c.744C>T (p.Ala248=) rs1590148914
NM_001122630.2(CDKN1C):c.750C>G (p.Gly250=)
NM_001122630.2(CDKN1C):c.750C>T (p.Gly250=)
NM_001122630.2(CDKN1C):c.753G>A (p.Ala251=) rs775458829
NM_001122630.2(CDKN1C):c.753G>T (p.Ala251=) rs775458829
NM_001122630.2(CDKN1C):c.756G>A (p.Ala252=)
NM_001122630.2(CDKN1C):c.759C>T (p.Ile253=)
NM_001122630.2(CDKN1C):c.75G>A (p.Pro25=)
NM_001122630.2(CDKN1C):c.765G>A (p.Lys255=) rs1590148866
NM_001122630.2(CDKN1C):c.768G>C (p.Leu256=) rs745815931
NM_001122630.2(CDKN1C):c.771C>A (p.Ser257=) rs747104008
NM_001122630.2(CDKN1C):c.771C>T (p.Ser257=) rs747104008
NM_001122630.2(CDKN1C):c.778C>T (p.Leu260=) rs2133781944
NM_001122630.2(CDKN1C):c.780G>C (p.Leu260=)
NM_001122630.2(CDKN1C):c.783C>T (p.Ile261=) rs2133781923
NM_001122630.2(CDKN1C):c.787+10G>C rs777855717
NM_001122630.2(CDKN1C):c.787+11C>A rs2133781851
NM_001122630.2(CDKN1C):c.787+13C>G rs1174788969
NM_001122630.2(CDKN1C):c.787+13C>T
NM_001122630.2(CDKN1C):c.787+13del
NM_001122630.2(CDKN1C):c.787+14G>T rs2133781842
NM_001122630.2(CDKN1C):c.787+15del
NM_001122630.2(CDKN1C):c.787+16C>T rs1848913867
NM_001122630.2(CDKN1C):c.787+16_787+25del rs748889587
NM_001122630.2(CDKN1C):c.787+20G>A
NM_001122630.2(CDKN1C):c.787+7C>A rs1848914279
NM_001122630.2(CDKN1C):c.787+7C>G rs1848914279
NM_001122630.2(CDKN1C):c.787+7C>T rs1848914279
NM_001122630.2(CDKN1C):c.787+8C>G rs2133781869
NM_001122630.2(CDKN1C):c.787+9C>G
NM_001122630.2(CDKN1C):c.787+9C>T rs2133781865
NM_001122630.2(CDKN1C):c.788-11G>A
NM_001122630.2(CDKN1C):c.788-13C>G
NM_001122630.2(CDKN1C):c.788-14G>T
NM_001122630.2(CDKN1C):c.788-15C>G
NM_001122630.2(CDKN1C):c.788-17C>T
NM_001122630.2(CDKN1C):c.788-18G>A
NM_001122630.2(CDKN1C):c.788-18G>T
NM_001122630.2(CDKN1C):c.788-20G>T rs763621138
NM_001122630.2(CDKN1C):c.788-4G>A rs764972822
NM_001122630.2(CDKN1C):c.788-5C>G rs775227462
NM_001122630.2(CDKN1C):c.788-6C>T rs2133780406
NM_001122630.2(CDKN1C):c.788-8G>T rs762520730
NM_001122630.2(CDKN1C):c.804C>T (p.Arg268=) rs1564928743
NM_001122630.2(CDKN1C):c.807G>A (p.Lys269=) rs1848882642
NM_001122630.2(CDKN1C):c.808A>C (p.Arg270=) rs483352996
NM_001122630.2(CDKN1C):c.813A>T (p.Ser271=)
NM_001122630.2(CDKN1C):c.816G>A (p.Ala272=) rs1554937506
NM_001122630.2(CDKN1C):c.822G>A (p.Glu274=)
NM_001122630.2(CDKN1C):c.825G>A (p.Lys275=) rs1314520245
NM_001122630.2(CDKN1C):c.828G>A (p.Ser276=) rs373252940
NM_001122630.2(CDKN1C):c.828G>C (p.Ser276=) rs373252940
NM_001122630.2(CDKN1C):c.840C>A (p.Val280=) rs2133780180
NM_001122630.2(CDKN1C):c.843C>G (p.Pro281=) rs773166985
NM_001122630.2(CDKN1C):c.843C>T (p.Pro281=) rs773166985
NM_001122630.2(CDKN1C):c.846G>A (p.Ala282=) rs1848879035
NM_001122630.2(CDKN1C):c.849G>A (p.Pro283=) rs1161173002
NM_001122630.2(CDKN1C):c.849G>C (p.Pro283=)
NM_001122630.2(CDKN1C):c.849G>T (p.Pro283=)
NM_001122630.2(CDKN1C):c.84C>T (p.His28=) rs760980314
NM_001122630.2(CDKN1C):c.852T>C (p.Cys284=) rs1564928644
NM_001122630.2(CDKN1C):c.855C>G (p.Pro285=) rs779172459
NM_001122630.2(CDKN1C):c.861A>C (p.Pro287=) rs1848877871
NM_001122630.2(CDKN1C):c.864C>T (p.Ser288=) rs1554937479
NM_001122630.2(CDKN1C):c.867C>T (p.Ala289=)
NM_001122630.2(CDKN1C):c.870C>G (p.Ala290=) rs1802775
NM_001122630.2(CDKN1C):c.870C>T (p.Ala290=) rs1802775
NM_001122630.2(CDKN1C):c.873T>C (p.Pro291=) rs780417247
NM_001122630.2(CDKN1C):c.873T>G (p.Pro291=) rs780417247
NM_001122630.2(CDKN1C):c.879G>C (p.Val293=)
NM_001122630.2(CDKN1C):c.882C>T (p.Gly294=) rs2133779977
NM_001122630.2(CDKN1C):c.885G>A (p.Ser295=) rs1060503861
NM_001122630.2(CDKN1C):c.897C>G (p.Thr299=)
NM_001122630.2(CDKN1C):c.900G>A (p.Pro300=) rs1364915876
NM_001122630.2(CDKN1C):c.900G>T (p.Pro300=) rs1364915876
NM_001122630.2(CDKN1C):c.903C>G (p.Arg301=) rs1848873750
NM_001122630.2(CDKN1C):c.903C>T (p.Arg301=) rs1848873750
NM_001122630.2(CDKN1C):c.90G>A (p.Glu30=) rs1468271941
NM_001122630.2(CDKN1C):c.912G>T (p.Leu304=) rs2133779878
NM_001122630.2(CDKN1C):c.96C>T (p.Ser32=)

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