ClinVar Miner

List of variants in gene CDKN1C studied for abdominal and pelvic region disorder

Included ClinVar conditions (961):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 350
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HGVS dbSNP
CDKN1C, 1-BP DEL/2-BP INS, 1086T-AG
NC_000011.10:g.(?_2883979)_(2885755_?)del
NC_000011.10:g.(?_2883979)_(2885755_?)dup
NM_000076.2(CDKN1C):c.*5+2T>C rs587777866
NM_000076.2(CDKN1C):c.-266G>A rs147317732
NM_000076.2(CDKN1C):c.-84G>A rs188494894
NM_000076.2(CDKN1C):c.500_523del rs565544512
NM_000076.2(CDKN1C):c.526_531del rs889984547
NM_000076.2(CDKN1C):c.543_554del rs878853629
NM_000076.2(CDKN1C):c.549_554del rs878853629
NM_000076.2(CDKN1C):c.549_554dup rs878853629
NM_000076.2(CDKN1C):c.555T>C (p.Ala185=) rs191294997
NM_000076.2(CDKN1C):c.567_572del rs878853632
NM_000076.2(CDKN1C):c.594_599del rs1060503855
NM_000076.2(CDKN1C):c.594_599dup rs1060503855
NM_000076.2(CDKN1C):c.612_629del rs759134767
NM_000076.2(CDKN1C):c.618_629del rs759134767
NM_000076.2(CDKN1C):c.624_629del rs759134767
NM_000076.2(CDKN1C):c.638_649del rs772704243
NM_000076.2(CDKN1C):c.644_649del rs772704243
NM_000076.2(CDKN1C):c.820+10G>A rs777855717
NM_000076.2(CDKN1C):c.820+1G>A rs1554937699
NM_000076.2(CDKN1C):c.820+6C>T rs1564929236
NM_000076.2(CDKN1C):c.821-5C>G rs775227462
NM_000076.2(CDKN1C):c.821-5C>T rs775227462
NM_000076.2(CDKN1C):c.821-8G>T rs762520730
NM_000076.2(CDKN1C):c.821-9C>A
NM_001122630.2(CDKN1C):c.-10-12G>C rs1220484886
NM_001122630.2(CDKN1C):c.-10-13C>T rs201368350
NM_001122630.2(CDKN1C):c.-10-15C>T
NM_001122630.2(CDKN1C):c.-10-20T>G
NM_001122630.2(CDKN1C):c.-10-5C>T rs374634184
NM_001122630.2(CDKN1C):c.-10-7T>C rs201715947
NM_001122630.2(CDKN1C):c.-1G>T rs780549417
NM_001122630.2(CDKN1C):c.-3A>G rs1564930879
NM_001122630.2(CDKN1C):c.-5C>A rs1420666038
NM_001122630.2(CDKN1C):c.100G>A (p.Glu34Lys)
NM_001122630.2(CDKN1C):c.106C>T (p.Gln36Ter) rs137852766
NM_001122630.2(CDKN1C):c.110C>T (p.Ala37Val) rs774548414
NM_001122630.2(CDKN1C):c.112C>A (p.Arg38Ser)
NM_001122630.2(CDKN1C):c.112C>T (p.Arg38Cys)
NM_001122630.2(CDKN1C):c.11T>C (p.Leu4Pro)
NM_001122630.2(CDKN1C):c.130G>T (p.Ala44Ser)
NM_001122630.2(CDKN1C):c.138C>T (p.Asp46=) rs777465972
NM_001122630.2(CDKN1C):c.139C>G (p.Gln47Glu)
NM_001122630.2(CDKN1C):c.140A>G (p.Gln47Arg)
NM_001122630.2(CDKN1C):c.149G>C (p.Trp50Ser) rs1554938211
NM_001122630.2(CDKN1C):c.156_157insTTCCAGCTGG (p.Asp53fs) rs1554938197
NM_001122630.2(CDKN1C):c.163del (p.Gln55fs) rs1554938194
NM_001122630.2(CDKN1C):c.16G>C (p.Ala6Pro)
NM_001122630.2(CDKN1C):c.177G>T (p.Pro59=)
NM_001122630.2(CDKN1C):c.17C>T (p.Ala6Val) rs1477196859
NM_001122630.2(CDKN1C):c.182G>A (p.Arg61Gln)
NM_001122630.2(CDKN1C):c.185G>A (p.Gly62Asp) rs1060500179
NM_001122630.2(CDKN1C):c.190G>A (p.Gly64Arg) rs1224283171
NM_001122630.2(CDKN1C):c.193C>T (p.Arg65Cys) rs750526402
NM_001122630.2(CDKN1C):c.194G>T (p.Arg65Leu) rs1312652368
NM_001122630.2(CDKN1C):c.206C>T (p.Thr69Ile)
NM_001122630.2(CDKN1C):c.207C>T (p.Thr69=)
NM_001122630.2(CDKN1C):c.213G>A (p.Val71=) rs141005361
NM_001122630.2(CDKN1C):c.219C>T (p.Ser73=)
NM_001122630.2(CDKN1C):c.225G>C (p.Ser75=) rs1015104953
NM_001122630.2(CDKN1C):c.230C>T (p.Pro77Leu)
NM_001122630.2(CDKN1C):c.232G>A (p.Ala78Thr) rs1177512372
NM_001122630.2(CDKN1C):c.238T>C (p.Tyr80His) rs1060499712
NM_001122630.2(CDKN1C):c.262C>T (p.Arg88Cys)
NM_001122630.2(CDKN1C):c.274C>G (p.Leu92Val) rs1416112498
NM_001122630.2(CDKN1C):c.277_278delinsG (p.Leu93fs) rs387906399
NM_001122630.2(CDKN1C):c.278_279insAGCA (p.Pro95fs)
NM_001122630.2(CDKN1C):c.28T>C (p.Phe10Leu)
NM_001122630.2(CDKN1C):c.291C>T (p.Pro97=) rs534471786
NM_001122630.2(CDKN1C):c.295_296delinsTT (p.Ala99Leu)
NM_001122630.2(CDKN1C):c.303G>C (p.Ala101=) rs931922290
NM_001122630.2(CDKN1C):c.303G>T (p.Ala101=) rs931922290
NM_001122630.2(CDKN1C):c.308C>T (p.Ala103Val) rs1486019596
NM_001122630.2(CDKN1C):c.312C>A (p.Val104=)
NM_001122630.2(CDKN1C):c.316C>T (p.Pro106Ser) rs570636789
NM_001122630.2(CDKN1C):c.317C>G (p.Pro106Arg) rs945890937
NM_001122630.2(CDKN1C):c.317C>T (p.Pro106Leu)
NM_001122630.2(CDKN1C):c.319C>G (p.Pro107Ala) rs772684721
NM_001122630.2(CDKN1C):c.320C>T (p.Pro107Leu) rs771731330
NM_001122630.2(CDKN1C):c.322C>T (p.Leu108Phe) rs1323156745
NM_001122630.2(CDKN1C):c.325G>C (p.Glu109Gln) rs1220263188
NM_001122630.2(CDKN1C):c.331G>A (p.Ala111Thr) rs551863674
NM_001122630.2(CDKN1C):c.333C>A (p.Ala111=) rs1554938097
NM_001122630.2(CDKN1C):c.334G>T (p.Ala112Ser)
NM_001122630.2(CDKN1C):c.340T>C (p.Ser114Pro) rs1319558011
NM_001122630.2(CDKN1C):c.341C>A (p.Ser114Tyr) rs1564930282
NM_001122630.2(CDKN1C):c.351C>T (p.Gly117=)
NM_001122630.2(CDKN1C):c.351_358del (p.Leu118fs) rs1554938087
NM_001122630.2(CDKN1C):c.354C>T (p.Leu118=) rs1426804435
NM_001122630.2(CDKN1C):c.354del (p.Glu119fs)
NM_001122630.2(CDKN1C):c.355G>A (p.Glu119Lys) rs1564930265
NM_001122630.2(CDKN1C):c.355G>T (p.Glu119Ter)
NM_001122630.2(CDKN1C):c.356A>T (p.Glu119Val)
NM_001122630.2(CDKN1C):c.358G>A (p.Glu120Lys)
NM_001122630.2(CDKN1C):c.362C>T (p.Ala121Val) rs1364155293
NM_001122630.2(CDKN1C):c.365C>T (p.Pro122Leu)
NM_001122630.2(CDKN1C):c.367G>C (p.Glu123Gln) rs1013695050
NM_001122630.2(CDKN1C):c.377C>T (p.Pro126Leu) rs1445830484
NM_001122630.2(CDKN1C):c.382G>A (p.Val128Ile) rs1183623363
NM_001122630.2(CDKN1C):c.395C>T (p.Ala132Val)
NM_001122630.2(CDKN1C):c.399G>A (p.Pro133=)
NM_001122630.2(CDKN1C):c.39A>G (p.Leu13=) rs3852522
NM_001122630.2(CDKN1C):c.405C>G (p.Ser135=) rs1554938064
NM_001122630.2(CDKN1C):c.40G>A (p.Val14Met)
NM_001122630.2(CDKN1C):c.40G>C (p.Val14Leu) rs758244300
NM_001122630.2(CDKN1C):c.410C>A (p.Pro137Gln) rs754671425
NM_001122630.2(CDKN1C):c.411G>A (p.Pro137=) rs878853625
NM_001122630.2(CDKN1C):c.412C>T (p.Pro138Ser)
NM_001122630.2(CDKN1C):c.413C>T (p.Pro138Leu) rs1060500175
NM_001122630.2(CDKN1C):c.414_431del (p.Val140_Pro145del) rs1159599818
NM_001122630.2(CDKN1C):c.417A>T (p.Pro139=) rs1486402339
NM_001122630.2(CDKN1C):c.418G>A (p.Val140Ile) rs753342439
NM_001122630.2(CDKN1C):c.422_427del (p.139_140PV[1]) rs1060500173
NM_001122630.2(CDKN1C):c.423G>A (p.Pro141=) rs878853626
NM_001122630.2(CDKN1C):c.425_442dup (p.Val142_Pro147dup)
NM_001122630.2(CDKN1C):c.430G>C (p.Ala144Pro)
NM_001122630.2(CDKN1C):c.435A>G (p.Pro145=)
NM_001122630.2(CDKN1C):c.438_449del (p.144_145AP[3])
NM_001122630.2(CDKN1C):c.439C>G (p.Pro147Ala) rs483352981
NM_001122630.2(CDKN1C):c.43C>G (p.Arg15Gly)
NM_001122630.2(CDKN1C):c.440C>T (p.Pro147Leu)
NM_001122630.2(CDKN1C):c.442G>A (p.Ala148Thr) rs1237188823
NM_001122630.2(CDKN1C):c.443C>A (p.Ala148Asp) rs372633
NM_001122630.2(CDKN1C):c.450T>A (p.Ala150=) rs898729531
NM_001122630.2(CDKN1C):c.452C>T (p.Pro151Leu)
NM_001122630.2(CDKN1C):c.453G>A (p.Pro151=)
NM_001122630.2(CDKN1C):c.457C>G (p.Pro153Ala)
NM_001122630.2(CDKN1C):c.458C>T (p.Pro153Leu) rs1315960524
NM_001122630.2(CDKN1C):c.459G>A (p.Pro153=) rs1273572500
NM_001122630.2(CDKN1C):c.45C>T (p.Arg15=) rs1360965916
NM_001122630.2(CDKN1C):c.460G>A (p.Val154Ile) rs1060500172
NM_001122630.2(CDKN1C):c.461_466del (p.Val154_Ala155del) rs878853627
NM_001122630.2(CDKN1C):c.461_532del (p.Val154_Pro177del) rs1564929864
NM_001122630.2(CDKN1C):c.465G>A (p.Ala155=) rs1361624164
NM_001122630.2(CDKN1C):c.475G>A (p.Ala159Thr)
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.47C>T (p.Thr16Ile)
NM_001122630.2(CDKN1C):c.480T>C (p.Ala160=)
NM_001122630.2(CDKN1C):c.487_492GCGGTC[3] (p.163_164AV[3]) rs889984547
NM_001122630.2(CDKN1C):c.492C>G (p.Val164=) rs878853628
NM_001122630.2(CDKN1C):c.493_494delinsCT (p.Ala165Leu) rs1554937984
NM_001122630.2(CDKN1C):c.495G>A (p.Ala165=) rs533485167
NM_001122630.2(CDKN1C):c.495G>C (p.Ala165=) rs533485167
NM_001122630.2(CDKN1C):c.496G>A (p.Val166Ile) rs1060500174
NM_001122630.2(CDKN1C):c.497T>C (p.Val166Ala)
NM_001122630.2(CDKN1C):c.49A>G (p.Ser17Gly)
NM_001122630.2(CDKN1C):c.500T>A (p.Leu167Gln) rs1060500177
NM_001122630.2(CDKN1C):c.500T>C (p.Leu167Pro) rs1060500177
NM_001122630.2(CDKN1C):c.503C>T (p.Ala168Val)
NM_001122630.2(CDKN1C):c.504_521del (p.168_169AP[5]) rs878853629
NM_001122630.2(CDKN1C):c.506C>G (p.Pro169Arg)
NM_001122630.2(CDKN1C):c.506C>T (p.Pro169Leu) rs113374868
NM_001122630.2(CDKN1C):c.507G>A (p.Pro169=) rs1419249357
NM_001122630.2(CDKN1C):c.508G>A (p.Ala170Thr)
NM_001122630.2(CDKN1C):c.509C>A (p.Ala170Asp)
NM_001122630.2(CDKN1C):c.509C>T (p.Ala170Val) rs1332953428
NM_001122630.2(CDKN1C):c.510C>T (p.Ala170=)
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.516_527del (p.168_169AP[6]) rs1249284743
NM_001122630.2(CDKN1C):c.524C>T (p.Pro175Leu) rs1167747239
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.527C>T (p.Ala176Val)
NM_001122630.2(CDKN1C):c.527_528insCCCGGC (p.168_169AP[9]) rs878853631
NM_001122630.2(CDKN1C):c.527_528insCCCGGCCCCGGC (p.168_169AP[10])
NM_001122630.2(CDKN1C):c.528T>C (p.Ala176=) rs384713
NM_001122630.2(CDKN1C):c.529C>A (p.Pro177Thr)
NM_001122630.2(CDKN1C):c.531_548del (p.168_169AP[5])
NM_001122630.2(CDKN1C):c.531_548dup (p.168_169AP[11])
NM_001122630.2(CDKN1C):c.534T>C (p.Ala178=) rs112196492
NM_001122630.2(CDKN1C):c.537G>C (p.Pro179=) rs550978405
NM_001122630.2(CDKN1C):c.537_548dup (p.168_169AP[10]) rs997267634
NM_001122630.2(CDKN1C):c.538G>T (p.Ala180Ser) rs1060500180
NM_001122630.2(CDKN1C):c.539_540insTCCGTC (p.Ala182_Pro183insSerPro)
NM_001122630.2(CDKN1C):c.540_545dup (p.168_169AP[9]) rs1302209410
NM_001122630.2(CDKN1C):c.542C>G (p.Pro181Arg) rs1377428359
NM_001122630.2(CDKN1C):c.546T>C (p.Ala182=) rs1412788622
NM_001122630.2(CDKN1C):c.546_563del (p.Val184_Pro189del) rs1203797892
NM_001122630.2(CDKN1C):c.546_569del (p.Val184_Pro191del)
NM_001122630.2(CDKN1C):c.546_581del (p.Val184_Pro195del) rs1554937877
NM_001122630.2(CDKN1C):c.546del (p.Pro183fs)
NM_001122630.2(CDKN1C):c.551T>C (p.Val184Ala) rs1261515352
NM_001122630.2(CDKN1C):c.552C>T (p.Val184=)
NM_001122630.2(CDKN1C):c.553G>C (p.Ala185Pro) rs1281835164
NM_001122630.2(CDKN1C):c.553_554delinsTT (p.Ala185Leu)
NM_001122630.2(CDKN1C):c.560C>G (p.Pro187Arg)
NM_001122630.2(CDKN1C):c.564C>T (p.Ala188=) rs1554937891
NM_001122630.2(CDKN1C):c.567A>G (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_578dup (p.186_187AP[12]) rs878853634
NM_001122630.2(CDKN1C):c.567_584del (p.186_187AP[7]) 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.577C>G (p.Pro193Ala) rs1345683292
NM_001122630.2(CDKN1C):c.578C>G (p.Pro193Arg)
NM_001122630.2(CDKN1C):c.578C>T (p.Pro193Leu)
NM_001122630.2(CDKN1C):c.579G>A (p.Pro193=) rs794726872
NM_001122630.2(CDKN1C):c.57C>T (p.Cys19=) rs759365577
NM_001122630.2(CDKN1C):c.582C>T (p.Ala194=)
NM_001122630.2(CDKN1C):c.585G>A (p.Pro195=) rs1060503858
NM_001122630.2(CDKN1C):c.586G>A (p.Ala196Thr) rs1554937870
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=)
NM_001122630.2(CDKN1C):c.58C>A (p.Arg20Ser) rs1467420956
NM_001122630.2(CDKN1C):c.58C>T (p.Arg20Cys) rs1467420956
NM_001122630.2(CDKN1C):c.592G>A (p.Ala198Thr) rs750581456
NM_001122630.2(CDKN1C):c.593C>G (p.Ala198Gly) rs1564929680
NM_001122630.2(CDKN1C):c.593_616del (p.186_187AP[6]) rs778468310
NM_001122630.2(CDKN1C):c.593_616dup (p.186_187AP[14]) rs778468310
NM_001122630.2(CDKN1C):c.596_597insGCTCCGGCCCC (p.Ala200fs) rs786205241
NM_001122630.2(CDKN1C):c.597C>G (p.Pro199=) rs767656648
NM_001122630.2(CDKN1C):c.597_602del (p.186_187AP[9])
NM_001122630.2(CDKN1C):c.597_602dup (p.186_187AP[11]) rs786205238
NM_001122630.2(CDKN1C):c.597_608del (p.186_187AP[8])
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.598G>A (p.Ala200Thr) rs1060500178
NM_001122630.2(CDKN1C):c.598delinsAA (p.Ala200fs) rs786205239
NM_001122630.2(CDKN1C):c.599_600insACCGGC (p.186_187AP[11]) rs771450542
NM_001122630.2(CDKN1C):c.599_609del (p.Ala200fs)
NM_001122630.2(CDKN1C):c.602C>T (p.Pro201Leu)
NM_001122630.2(CDKN1C):c.602del (p.Pro201fs) rs786205237
NM_001122630.2(CDKN1C):c.608C>T (p.Pro203Leu) rs1564929606
NM_001122630.2(CDKN1C):c.611C>A (p.Ala204Asp) rs1060500176
NM_001122630.2(CDKN1C):c.611C>T (p.Ala204Val) rs1060500176
NM_001122630.2(CDKN1C):c.614del (p.Pro205fs) rs1564929584
NM_001122630.2(CDKN1C):c.620C>T (p.Ala207Val) rs1564929547
NM_001122630.2(CDKN1C):c.626C>T (p.Pro209Leu)
NM_001122630.2(CDKN1C):c.636C>T (p.Ser212=) rs540923047
NM_001122630.2(CDKN1C):c.637G>A (p.Ala213Thr) rs528634940
NM_001122630.2(CDKN1C):c.640G>T (p.Glu214Ter) rs1564929520
NM_001122630.2(CDKN1C):c.643C>G (p.Gln215Glu) rs483352987
NM_001122630.2(CDKN1C):c.651G>T (p.Ala217=) rs761539484
NM_001122630.2(CDKN1C):c.653A>C (p.Asn218Thr)
NM_001122630.2(CDKN1C):c.658G>A (p.Gly220Arg) rs1564929482
NM_001122630.2(CDKN1C):c.660G>A (p.Gly220=) rs1554937788
NM_001122630.2(CDKN1C):c.661C>T (p.Gln221Ter) rs797045445
NM_001122630.2(CDKN1C):c.665_666delinsAG (p.Arg222Gln) rs1554937778
NM_001122630.2(CDKN1C):c.667G>T (p.Gly223Cys)
NM_001122630.2(CDKN1C):c.669C>G (p.Gly223=) rs546016935
NM_001122630.2(CDKN1C):c.669C>T (p.Gly223=)
NM_001122630.2(CDKN1C):c.66C>T (p.Leu22=)
NM_001122630.2(CDKN1C):c.673G>T (p.Glu225Ter) rs1564929426
NM_001122630.2(CDKN1C):c.675G>A (p.Glu225=) rs3741341
NM_001122630.2(CDKN1C):c.676C>T (p.Pro226Ser) rs1240280374
NM_001122630.2(CDKN1C):c.679C>T (p.Leu227Phe) rs878853640
NM_001122630.2(CDKN1C):c.699G>C (p.Ser233=) rs751650132
NM_001122630.2(CDKN1C):c.700G>A (p.Gly234Arg) rs1060500181
NM_001122630.2(CDKN1C):c.702G>A (p.Gly234=) rs556682082
NM_001122630.2(CDKN1C):c.707C>A (p.Ser236Ter) rs104894200
NM_001122630.2(CDKN1C):c.707C>T (p.Ser236Leu) rs104894200
NM_001122630.2(CDKN1C):c.708G>A (p.Ser236=) rs1404692297
NM_001122630.2(CDKN1C):c.709G>A (p.Gly237Arg) rs1564929381
NM_001122630.2(CDKN1C):c.712C>T (p.Arg238Cys) rs878853641
NM_001122630.2(CDKN1C):c.719C>T (p.Ala240Val) rs765542916
NM_001122630.2(CDKN1C):c.720G>A (p.Ala240=)
NM_001122630.2(CDKN1C):c.730G>A (p.Ala244Thr) rs760038657
NM_001122630.2(CDKN1C):c.736G>T (p.Ala246Ser) rs754283907
NM_001122630.2(CDKN1C):c.737C>G (p.Ala246Gly) rs878853642
NM_001122630.2(CDKN1C):c.742G>T (p.Ala248Ser)
NM_001122630.2(CDKN1C):c.744C>T (p.Ala248=)
NM_001122630.2(CDKN1C):c.746A>G (p.Asn249Ser)
NM_001122630.2(CDKN1C):c.748G>A (p.Gly250Ser)
NM_001122630.2(CDKN1C):c.74C>G (p.Pro25Arg) rs1564930749
NM_001122630.2(CDKN1C):c.751G>A (p.Ala251Thr) rs1300586071
NM_001122630.2(CDKN1C):c.753G>T (p.Ala251=)
NM_001122630.2(CDKN1C):c.756G>C (p.Ala252=)
NM_001122630.2(CDKN1C):c.761A>G (p.Lys254Arg)
NM_001122630.2(CDKN1C):c.765G>A (p.Lys255=)
NM_001122630.2(CDKN1C):c.769T>A (p.Ser257Thr) rs781340171
NM_001122630.2(CDKN1C):c.771C>T (p.Ser257=) rs747104008
NM_001122630.2(CDKN1C):c.771_786del (p.Gly258fs)
NM_001122630.2(CDKN1C):c.775C>A (p.Pro259Thr) rs1416211722
NM_001122630.2(CDKN1C):c.775C>T (p.Pro259Ser)
NM_001122630.2(CDKN1C):c.777T>G (p.Pro259=)
NM_001122630.2(CDKN1C):c.782T>G (p.Ile261Ser) rs515726203
NM_001122630.2(CDKN1C):c.785C>G (p.Ser262Cys) rs1564929254
NM_001122630.2(CDKN1C):c.786C>T (p.Ser262=) rs1430282098
NM_001122630.2(CDKN1C):c.786del (p.Asp263fs)
NM_001122630.2(CDKN1C):c.787G>A (p.Asp263Asn) rs387907225
NM_001122630.2(CDKN1C):c.793T>G (p.Phe265Val) rs387907223
NM_001122630.2(CDKN1C):c.794T>C (p.Phe265Ser) rs387907224
NM_001122630.2(CDKN1C):c.796G>C (p.Ala266Pro)
NM_001122630.2(CDKN1C):c.796G>T (p.Ala266Ser)
NM_001122630.2(CDKN1C):c.799A>G (p.Lys267Glu) rs387907226
NM_001122630.2(CDKN1C):c.79G>A (p.Asp27Asn)
NM_001122630.2(CDKN1C):c.803G>C (p.Arg268Pro) rs318240750
NM_001122630.2(CDKN1C):c.803G>T (p.Arg268Leu) rs318240750
NM_001122630.2(CDKN1C):c.804C>T (p.Arg268=) rs1564928743
NM_001122630.2(CDKN1C):c.809G>T (p.Arg270Ile) rs886037912
NM_001122630.2(CDKN1C):c.812C>A (p.Ser271Ter) rs267606716
NM_001122630.2(CDKN1C):c.812C>G (p.Ser271Ter) rs267606716
NM_001122630.2(CDKN1C):c.814G>C (p.Ala272Pro)
NM_001122630.2(CDKN1C):c.815C>T (p.Ala272Val) rs776541692
NM_001122630.2(CDKN1C):c.816G>A (p.Ala272=) rs1554937506
NM_001122630.2(CDKN1C):c.827C>G (p.Ser276Trp) rs928007699
NM_001122630.2(CDKN1C):c.827C>T (p.Ser276Leu) rs928007699
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.831G>A (p.Ser277=) rs370564696
NM_001122630.2(CDKN1C):c.832G>A (p.Gly278Ser)
NM_001122630.2(CDKN1C):c.841C>G (p.Pro281Ala) rs1564928669
NM_001122630.2(CDKN1C):c.843C>G (p.Pro281=) rs773166985
NM_001122630.2(CDKN1C):c.853C>G (p.Pro285Ala)
NM_001122630.2(CDKN1C):c.853C>T (p.Pro285Ser) rs531059713
NM_001122630.2(CDKN1C):c.855C>G (p.Pro285=)
NM_001122630.2(CDKN1C):c.855C>T (p.Pro285=) rs779172459
NM_001122630.2(CDKN1C):c.864C>T (p.Ser288=) rs1554937479
NM_001122630.2(CDKN1C):c.865G>T (p.Ala289Ser)
NM_001122630.2(CDKN1C):c.868G>T (p.Ala290Ser) rs749702191
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.876C>T (p.Gly292=) rs377216794
NM_001122630.2(CDKN1C):c.885G>C (p.Ser295=) rs1060503861
NM_001122630.2(CDKN1C):c.888G>T (p.Val296=)
NM_001122630.2(CDKN1C):c.900G>A (p.Pro300=)
NM_001122630.2(CDKN1C):c.903C>T (p.Arg301=)
NM_001122630.2(CDKN1C):c.90G>A (p.Glu30=) rs1468271941
NM_001122630.2(CDKN1C):c.917G>A (p.Ter306=) rs1363802623
NM_001122630.2(CDKN1C):c.92T>C (p.Leu31Pro)
NM_001122630.2(CDKN1C):c.97C>T (p.Arg33Cys)
NM_001122630.2(CDKN1C):c.98G>A (p.Arg33His) rs1477382841
NM_001122630.2(CDKN1C):c.98G>T (p.Arg33Leu) rs1477382841
NM_001122630.2(CDKN1C):c.99C>T (p.Arg33=) rs149717696
NM_001362475.2(CDKN1C):c.255+111dup rs786205236
NM_001362475.2(CDKN1C):c.255+135CCCGGC[3] rs1201148541
NM_001362475.2(CDKN1C):c.255+161del rs786205234
NM_001362475.2(CDKN1C):c.255+194CTCCGG[3] rs1245402442
NM_001362475.2(CDKN1C):c.255+200CTCCGGTCGCGG[2] rs565544512
NM_001362475.2(CDKN1C):c.255+200CTCCGGTCGCGG[4] rs565544512
NM_001362475.2(CDKN1C):c.255+200CTCCGGTCGCGG[5] rs565544512
NM_001362475.2(CDKN1C):c.255+267TCCGGC[4] rs878853632
NM_001362475.2(CDKN1C):c.255+312_255+323del rs878853634
NM_001362475.2(CDKN1C):c.255+318GGCCCC[5] rs759134767
NM_001362475.2(CDKN1C):c.255+318GGCCCC[6]
NM_001362475.2(CDKN1C):c.255+318GGCCCC[8] rs759134767
NM_001362475.2(CDKN1C):c.255+323_255+347dup rs1554937847
NM_001362475.2(CDKN1C):c.255+344CCCCGG[4] rs772704243
NM_001362475.2(CDKN1C):c.255+353_255+356delinsGGG rs786205240
NM_001362475.2(CDKN1C):c.255+45dup rs786205235
NM_001362475.2(CDKN1C):c.255+464_255+475delinsGTGC rs1554937726

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