ClinVar Miner

List of variants studied for Beckwith-Wiedemann syndrome by Invitae

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ClinVar version:
Total variants: 1152
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HGVS dbSNP gnomAD frequency
NM_001122630.2(CDKN1C):c.567A>G (p.Pro189=) rs529326848 0.03671
NM_001122630.2(CDKN1C):c.-11+60G>A rs143992355 0.02792
NM_001122630.2(CDKN1C):c.495G>C (p.Ala165=) rs533485167 0.01351
NM_001122630.2(CDKN1C):c.-11+61G>A rs188494894 0.00603
NM_001122630.2(CDKN1C):c.-132G>A rs147317732 0.00329
NM_001122630.2(CDKN1C):c.99C>T (p.Arg33=) rs149717696 0.00208
NM_001122630.2(CDKN1C):c.675G>A (p.Glu225=) rs3741341 0.00183
NM_001122630.2(CDKN1C):c.636C>T (p.Ser212=) rs540923047 0.00143
NM_001122630.2(CDKN1C):c.39A>G (p.Leu13=) rs3852522 0.00100
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.319C>G (p.Pro107Ala) rs772684721 0.00023
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.367G>C (p.Glu123Gln) rs1013695050 0.00019
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.736G>T (p.Ala246Ser) rs754283907 0.00014
NM_001122630.2(CDKN1C):c.-10-5C>T rs374634184 0.00013
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.853C>T (p.Pro285Ser) rs531059713 0.00007
NM_001122630.2(CDKN1C):c.276G>T (p.Leu92=) rs764328739 0.00006
NM_001122630.2(CDKN1C):c.458C>T (p.Pro153Leu) rs1315960524 0.00006
NM_001122630.2(CDKN1C):c.57C>T (p.Cys19=) rs759365577 0.00006
NM_022455.5(NSD1):c.7414C>T (p.Pro2472Ser) rs143159061 0.00006
NM_001122630.2(CDKN1C):c.-10-7T>C rs201715947 0.00004
NM_001122630.2(CDKN1C):c.294C>G (p.Val98=) rs932963247 0.00004
NM_001122630.2(CDKN1C):c.316C>T (p.Pro106Ser) rs570636789 0.00004
NM_001122630.2(CDKN1C):c.395C>T (p.Ala132Val) rs896475967 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.112C>T (p.Arg38Cys) rs749713233 0.00003
NM_001122630.2(CDKN1C):c.225G>C (p.Ser75=) rs1015104953 0.00003
NM_001122630.2(CDKN1C):c.317C>G (p.Pro106Arg) rs945890937 0.00003
NM_001122630.2(CDKN1C):c.340T>C (p.Ser114Pro) rs1319558011 0.00003
NM_001122630.2(CDKN1C):c.351C>T (p.Gly117=) rs1465084800 0.00003
NM_001122630.2(CDKN1C):c.361G>A (p.Ala121Thr) rs1479013685 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.815C>T (p.Ala272Val) rs776541692 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.17C>T (p.Ala6Val) rs1477196859 0.00002
NM_001122630.2(CDKN1C):c.193C>T (p.Arg65Cys) rs750526402 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.461T>C (p.Val154Ala) rs1191295512 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.527C>T (p.Ala176Val) rs1443539133 0.00002
NM_001122630.2(CDKN1C):c.540C>A (p.Ala180=) rs1429391694 0.00002
NM_001122630.2(CDKN1C):c.542C>G (p.Pro181Arg) rs1377428359 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.569C>T (p.Ala190Val) rs1489659757 0.00002
NM_001122630.2(CDKN1C):c.577C>G (p.Pro193Ala) rs1345683292 0.00002
NM_001122630.2(CDKN1C):c.611C>A (p.Ala204Asp) rs1060500176 0.00002
NM_001122630.2(CDKN1C):c.654C>T (p.Asn218=) rs1232547627 0.00002
NM_001122630.2(CDKN1C):c.712C>T (p.Arg238Cys) rs878853641 0.00002
NM_001122630.2(CDKN1C):c.730G>A (p.Ala244Thr) rs760038657 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.827C>T (p.Ser276Leu) rs928007699 0.00002
NM_001122630.2(CDKN1C):c.-10-12G>C rs1220484886 0.00001
NM_001122630.2(CDKN1C):c.-10-13C>T rs201368350 0.00001
NM_001122630.2(CDKN1C):c.-10-17G>A rs1452796504 0.00001
NM_001122630.2(CDKN1C):c.-10-20T>G rs748680303 0.00001
NM_001122630.2(CDKN1C):c.-10-6C>T rs1402537848 0.00001
NM_001122630.2(CDKN1C):c.-8C>T rs1300493378 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.130G>T (p.Ala44Ser) rs1013973901 0.00001
NM_001122630.2(CDKN1C):c.156C>T (p.Tyr52=) rs754972138 0.00001
NM_001122630.2(CDKN1C):c.165G>T (p.Gln55His) rs1424141761 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.206C>T (p.Thr69Ile) rs1475576590 0.00001
NM_001122630.2(CDKN1C):c.232G>A (p.Ala78Thr) rs1177512372 0.00001
NM_001122630.2(CDKN1C):c.250G>A (p.Val84Met) rs762106424 0.00001
NM_001122630.2(CDKN1C):c.260G>A (p.Gly87Glu) rs1398439636 0.00001
NM_001122630.2(CDKN1C):c.262C>T (p.Arg88Cys) rs1356534188 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.295G>T (p.Ala99Ser) rs1848965651 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.314G>A (p.Ser105Asn) rs1197769841 0.00001
NM_001122630.2(CDKN1C):c.314G>T (p.Ser105Ile) rs1197769841 0.00001
NM_001122630.2(CDKN1C):c.318G>A (p.Pro106=) rs1348631478 0.00001
NM_001122630.2(CDKN1C):c.322C>T (p.Leu108Phe) rs1323156745 0.00001
NM_001122630.2(CDKN1C):c.331G>A (p.Ala111Thr) rs551863674 0.00001
NM_001122630.2(CDKN1C):c.354C>T (p.Leu118=) rs1426804435 0.00001
NM_001122630.2(CDKN1C):c.355G>A (p.Glu119Lys) rs1564930265 0.00001
NM_001122630.2(CDKN1C):c.362C>T (p.Ala121Val) rs1364155293 0.00001
NM_001122630.2(CDKN1C):c.363G>A (p.Ala121=) rs1424698883 0.00001
NM_001122630.2(CDKN1C):c.364C>T (p.Pro122Ser) rs1192914687 0.00001
NM_001122630.2(CDKN1C):c.365C>T (p.Pro122Leu) rs1590150577 0.00001
NM_001122630.2(CDKN1C):c.377C>T (p.Pro126Leu) rs1445830484 0.00001
NM_001122630.2(CDKN1C):c.382G>A (p.Val128Ile) rs1183623363 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.440C>T (p.Pro147Leu) rs1320293569 0.00001
NM_001122630.2(CDKN1C):c.443C>T (p.Ala148Val) rs372633 0.00001
NM_001122630.2(CDKN1C):c.446C>T (p.Pro149Leu) rs1848950838 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.457C>G (p.Pro153Ala) rs1323691763 0.00001
NM_001122630.2(CDKN1C):c.465G>A (p.Ala155=) rs1361624164 0.00001
NM_001122630.2(CDKN1C):c.47C>T (p.Thr16Ile) rs1282995815 0.00001
NM_001122630.2(CDKN1C):c.481C>G (p.Pro161Ala) rs1342240264 0.00001
NM_001122630.2(CDKN1C):c.492C>G (p.Val164=) rs878853628 0.00001
NM_001122630.2(CDKN1C):c.49A>G (p.Ser17Gly) rs1316822895 0.00001
NM_001122630.2(CDKN1C):c.509C>T (p.Ala170Val) rs1332953428 0.00001
NM_001122630.2(CDKN1C):c.518C>T (p.Pro173Leu) rs1050598447 0.00001
NM_001122630.2(CDKN1C):c.528T>C (p.Ala176=) rs384713 0.00001
NM_001122630.2(CDKN1C):c.530C>T (p.Pro177Leu) rs1370733962 0.00001
NM_001122630.2(CDKN1C):c.537G>A (p.Pro179=) rs550978405 0.00001
NM_001122630.2(CDKN1C):c.546del (p.Pro183fs) rs1848940003 0.00001
NM_001122630.2(CDKN1C):c.548C>T (p.Pro183Leu) rs1458423964 0.00001
NM_001122630.2(CDKN1C):c.560C>T (p.Pro187Leu) rs2583439 0.00001
NM_001122630.2(CDKN1C):c.564C>T (p.Ala188=) rs1554937891 0.00001
NM_001122630.2(CDKN1C):c.578C>T (p.Pro193Leu) rs2583440 0.00001
NM_001122630.2(CDKN1C):c.582C>T (p.Ala194=) rs1368082798 0.00001
NM_001122630.2(CDKN1C):c.584C>G (p.Pro195Arg) rs1182342 0.00001
NM_001122630.2(CDKN1C):c.585G>A (p.Pro195=) rs1060503858 0.00001
NM_001122630.2(CDKN1C):c.58C>T (p.Arg20Cys) rs1467420956 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.631G>C (p.Glu211Gln) rs775889163 0.00001
NM_001122630.2(CDKN1C):c.660G>A (p.Gly220=) rs1554937788 0.00001
NM_001122630.2(CDKN1C):c.676C>T (p.Pro226Ser) rs1240280374 0.00001
NM_001122630.2(CDKN1C):c.679C>T (p.Leu227Phe) rs878853640 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.737C>G (p.Ala246Gly) rs878853642 0.00001
NM_001122630.2(CDKN1C):c.742G>T (p.Ala248Ser) rs773881541 0.00001
NM_001122630.2(CDKN1C):c.746A>G (p.Asn249Ser) rs1282204263 0.00001
NM_001122630.2(CDKN1C):c.748G>A (p.Gly250Ser) rs768242627 0.00001
NM_001122630.2(CDKN1C):c.751G>A (p.Ala251Thr) rs1300586071 0.00001
NM_001122630.2(CDKN1C):c.756G>C (p.Ala252=) rs1269967508 0.00001
NM_001122630.2(CDKN1C):c.767T>C (p.Leu256Pro) rs1254038235 0.00001
NM_001122630.2(CDKN1C):c.768G>A (p.Leu256=) rs745815931 0.00001
NM_001122630.2(CDKN1C):c.769T>A (p.Ser257Thr) rs781340171 0.00001
NM_001122630.2(CDKN1C):c.772G>C (p.Gly258Arg) rs1275242295 0.00001
NM_001122630.2(CDKN1C):c.777T>G (p.Pro259=) rs1395099180 0.00001
NM_001122630.2(CDKN1C):c.786C>T (p.Ser262=) rs1430282098 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.797C>T (p.Ala266Val) rs1307229121 0.00001
NM_001122630.2(CDKN1C):c.832G>A (p.Gly278Ser) rs1391074477 0.00001
NM_001122630.2(CDKN1C):c.838G>A (p.Val280Ile) rs1166638899 0.00001
NM_001122630.2(CDKN1C):c.844G>A (p.Ala282Thr) rs1848879371 0.00001
NM_001122630.2(CDKN1C):c.855C>T (p.Pro285=) rs779172459 0.00001
NM_001122630.2(CDKN1C):c.865G>T (p.Ala289Ser) rs755160554 0.00001
NM_001122630.2(CDKN1C):c.881G>T (p.Gly294Val) rs962524119 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.97C>T (p.Arg33Cys) rs956525226 0.00001
NM_022455.5(NSD1):c.4193-10T>C rs774927461 0.00001
NM_022455.5(NSD1):c.6667C>T (p.Pro2223Ser) rs1760070315 0.00001
NC_000005.10:g.(?_177135084)_(177295479_?)del
NC_000005.10:g.(?_177135094)_(177295469_?)del
NC_000005.10:g.(?_177235801)_(177239885_?)del
NC_000005.10:g.(?_177280545)_(177283948_?)del
NC_000005.10:g.(?_177288799)_(177288945_?)del
NC_000011.10:g.(?_2883979)_(2885755_?)del
NC_000011.10:g.(?_2883979)_(2885755_?)dup
NC_000011.9:g.(?_2905228)_(2906725_?)del
NM_001122630.2(CDKN1C):c.*5+20G>C
NM_001122630.2(CDKN1C):c.-10-10dup rs1564930907
NM_001122630.2(CDKN1C):c.-10-12G>A rs1220484886
NM_001122630.2(CDKN1C):c.-10-13C>G rs201368350
NM_001122630.2(CDKN1C):c.-10-14G>A rs2133786761
NM_001122630.2(CDKN1C):c.-10-15C>T rs1352961367
NM_001122630.2(CDKN1C):c.-10-18C>T rs1050335121
NM_001122630.2(CDKN1C):c.-10-21G>C
NM_001122630.2(CDKN1C):c.-10-22T>C rs1848984628
NM_001122630.2(CDKN1C):c.-10-22del
NM_001122630.2(CDKN1C):c.-10-23A>G rs1848984724
NM_001122630.2(CDKN1C):c.-10-4G>A rs2133786706
NM_001122630.2(CDKN1C):c.-10-9C>T rs878853624
NM_001122630.2(CDKN1C):c.-10C>T rs2133786702
NM_001122630.2(CDKN1C):c.-2C>T rs1360488872
NM_001122630.2(CDKN1C):c.-3A>G rs1564930879
NM_001122630.2(CDKN1C):c.-4C>G
NM_001122630.2(CDKN1C):c.-4C>T
NM_001122630.2(CDKN1C):c.-5C>A rs1420666038
NM_001122630.2(CDKN1C):c.-5C>T rs1420666038
NM_001122630.2(CDKN1C):c.-7A>C
NM_001122630.2(CDKN1C):c.-8C>G
NM_001122630.2(CDKN1C):c.100G>A (p.Glu34Lys) rs1848977184
NM_001122630.2(CDKN1C):c.100G>T (p.Glu34Ter)
NM_001122630.2(CDKN1C):c.105G>T (p.Leu35=) rs762337324
NM_001122630.2(CDKN1C):c.107A>G (p.Gln36Arg)
NM_001122630.2(CDKN1C):c.108G>A (p.Gln36=) rs1060503856
NM_001122630.2(CDKN1C):c.108G>T (p.Gln36His)
NM_001122630.2(CDKN1C):c.10C>G (p.Leu4Val) rs2133786635
NM_001122630.2(CDKN1C):c.110C>A (p.Ala37Asp)
NM_001122630.2(CDKN1C):c.110C>T (p.Ala37Val) rs774548414
NM_001122630.2(CDKN1C):c.112C>A (p.Arg38Ser) rs749713233
NM_001122630.2(CDKN1C):c.115C>T (p.Leu39=) rs2133786132
NM_001122630.2(CDKN1C):c.118G>A (p.Ala40Thr)
NM_001122630.2(CDKN1C):c.118G>C (p.Ala40Pro) rs1848975816
NM_001122630.2(CDKN1C):c.11T>C (p.Leu4Pro) rs756961090
NM_001122630.2(CDKN1C):c.120C>T (p.Ala40=) rs776240688
NM_001122630.2(CDKN1C):c.126G>T (p.Leu42=)
NM_001122630.2(CDKN1C):c.129C>A (p.Asn43Lys)
NM_001122630.2(CDKN1C):c.131C>A (p.Ala44Asp) rs1848975072
NM_001122630.2(CDKN1C):c.131C>T (p.Ala44Val) rs1848975072
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.132del (p.Glu45fs) rs2133786067
NM_001122630.2(CDKN1C):c.133G>A (p.Glu45Lys) rs1848974871
NM_001122630.2(CDKN1C):c.133G>T (p.Glu45Ter) rs1848974871
NM_001122630.2(CDKN1C):c.135G>A (p.Glu45=)
NM_001122630.2(CDKN1C):c.136G>A (p.Asp46Asn)
NM_001122630.2(CDKN1C):c.137A>C (p.Asp46Ala) rs2133786030
NM_001122630.2(CDKN1C):c.137A>G (p.Asp46Gly) rs2133786030
NM_001122630.2(CDKN1C):c.138C>A (p.Asp46Glu) rs777465972
NM_001122630.2(CDKN1C):c.139C>G (p.Gln47Glu) rs1450572665
NM_001122630.2(CDKN1C):c.140A>G (p.Gln47Arg) rs1848974498
NM_001122630.2(CDKN1C):c.142A>G (p.Asn48Asp) rs1402483625
NM_001122630.2(CDKN1C):c.146G>T (p.Arg49Leu)
NM_001122630.2(CDKN1C):c.148T>A (p.Trp50Arg) rs1848973963
NM_001122630.2(CDKN1C):c.149G>C (p.Trp50Ser) rs1554938211
NM_001122630.2(CDKN1C):c.152_160del (p.Asp51_Phe54delinsVal) rs1848973414
NM_001122630.2(CDKN1C):c.154T>G (p.Tyr52Asp)
NM_001122630.2(CDKN1C):c.156_157insTTCCAGCTGG (p.Asp53fs) rs1554938197
NM_001122630.2(CDKN1C):c.157G>A (p.Asp53Asn) rs2133785931
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.160T>A (p.Phe54Ile) rs1848973334
NM_001122630.2(CDKN1C):c.161_164del (p.Phe54fs)
NM_001122630.2(CDKN1C):c.162C>T (p.Phe54=)
NM_001122630.2(CDKN1C):c.163C>T (p.Gln55Ter)
NM_001122630.2(CDKN1C):c.163del (p.Gln55fs) rs1554938194
NM_001122630.2(CDKN1C):c.16G>C (p.Ala6Pro) rs1848981921
NM_001122630.2(CDKN1C):c.170A>C (p.Asp57Ala)
NM_001122630.2(CDKN1C):c.171C>T (p.Asp57=) rs1554938190
NM_001122630.2(CDKN1C):c.172A>G (p.Met58Val)
NM_001122630.2(CDKN1C):c.174G>A (p.Met58Ile) rs2133785866
NM_001122630.2(CDKN1C):c.174dup (p.Pro59fs) rs2133785873
NM_001122630.2(CDKN1C):c.176C>T (p.Pro59Leu) rs483352970
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.181C>G (p.Arg61Gly)
NM_001122630.2(CDKN1C):c.182G>A (p.Arg61Gln) rs1238182415
NM_001122630.2(CDKN1C):c.184G>A (p.Gly62Ser) rs1197451349
NM_001122630.2(CDKN1C):c.185G>A (p.Gly62Asp) rs1060500179
NM_001122630.2(CDKN1C):c.185dup (p.Gly64fs)
NM_001122630.2(CDKN1C):c.188C>T (p.Pro63Leu) rs1848972207
NM_001122630.2(CDKN1C):c.190G>A (p.Gly64Arg) rs1224283171
NM_001122630.2(CDKN1C):c.193_200dup (p.Gln67fs) rs2133785723
NM_001122630.2(CDKN1C):c.194G>T (p.Arg65Leu) rs1312652368
NM_001122630.2(CDKN1C):c.195C>G (p.Arg65=)
NM_001122630.2(CDKN1C):c.195C>T (p.Arg65=) rs2133785747
NM_001122630.2(CDKN1C):c.199C>T (p.Gln67Ter) rs2133785734
NM_001122630.2(CDKN1C):c.19C>T (p.Arg7Cys)
NM_001122630.2(CDKN1C):c.203G>A (p.Trp68Ter) rs1379762772
NM_001122630.2(CDKN1C):c.204G>A (p.Trp68Ter) rs2133785693
NM_001122630.2(CDKN1C):c.204G>C (p.Trp68Cys) rs2133785693
NM_001122630.2(CDKN1C):c.205del (p.Thr69fs) rs2133785682
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.208G>A (p.Glu70Lys) rs1038466183
NM_001122630.2(CDKN1C):c.208G>C (p.Glu70Gln) rs1038466183
NM_001122630.2(CDKN1C):c.216C>T (p.Asp72=) rs1848971070
NM_001122630.2(CDKN1C):c.218G>A (p.Ser73Asn) rs1848970951
NM_001122630.2(CDKN1C):c.218G>C (p.Ser73Thr)
NM_001122630.2(CDKN1C):c.219C>T (p.Ser73=) rs1295465465
NM_001122630.2(CDKN1C):c.223T>G (p.Ser75Ala) rs1848970693
NM_001122630.2(CDKN1C):c.224C>A (p.Ser75Ter)
NM_001122630.2(CDKN1C):c.224C>G (p.Ser75Trp) rs897964106
NM_001122630.2(CDKN1C):c.224C>T (p.Ser75Leu)
NM_001122630.2(CDKN1C):c.230C>T (p.Pro77Leu) rs1590151038
NM_001122630.2(CDKN1C):c.231C>T (p.Pro77=) rs1008606799
NM_001122630.2(CDKN1C):c.233C>T (p.Ala78Val) rs1848969930
NM_001122630.2(CDKN1C):c.237C>G (p.Phe79Leu)
NM_001122630.2(CDKN1C):c.237C>T (p.Phe79=) rs2133785564
NM_001122630.2(CDKN1C):c.23G>A (p.Gly8Glu)
NM_001122630.2(CDKN1C):c.240C>T (p.Tyr80=) rs2133785556
NM_001122630.2(CDKN1C):c.241C>A (p.Arg81Ser) rs1848969615
NM_001122630.2(CDKN1C):c.241C>T (p.Arg81Cys)
NM_001122630.2(CDKN1C):c.243C>G (p.Arg81=)
NM_001122630.2(CDKN1C):c.244G>T (p.Glu82Ter) rs2133785530
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.250G>C (p.Val84Leu) rs762106424
NM_001122630.2(CDKN1C):c.252G>A (p.Val84=) rs1291600206
NM_001122630.2(CDKN1C):c.254A>G (p.Gln85Arg) rs1220704341
NM_001122630.2(CDKN1C):c.255G>A (p.Gln85=) rs1848968928
NM_001122630.2(CDKN1C):c.255G>C (p.Gln85His) rs1848968928
NM_001122630.2(CDKN1C):c.255G>T (p.Gln85His) rs1848968928
NM_001122630.2(CDKN1C):c.256G>A (p.Val86Met) rs1848968869
NM_001122630.2(CDKN1C):c.259_261del (p.Gly87del) rs2133785467
NM_001122630.2(CDKN1C):c.261G>C (p.Gly87=) rs1590150966
NM_001122630.2(CDKN1C):c.261dup (p.Arg88fs)
NM_001122630.2(CDKN1C):c.268C>T (p.Arg90Cys) rs1303693319
NM_001122630.2(CDKN1C):c.26C>G (p.Thr9Ser) rs1848981377
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>G (p.Leu92Val) rs1416112498
NM_001122630.2(CDKN1C):c.274C>T (p.Leu92=)
NM_001122630.2(CDKN1C):c.277C>T (p.Leu93=)
NM_001122630.2(CDKN1C):c.278T>A (p.Leu93Gln)
NM_001122630.2(CDKN1C):c.278_279insAGCA (p.Pro95fs) rs1848966851
NM_001122630.2(CDKN1C):c.281C>T (p.Ala94Val)
NM_001122630.2(CDKN1C):c.282G>T (p.Ala94=)
NM_001122630.2(CDKN1C):c.283C>T (p.Pro95Ser) rs1848966431
NM_001122630.2(CDKN1C):c.283_284delinsGT (p.Pro95Val) rs2133785351
NM_001122630.2(CDKN1C):c.283_300delinsG (p.Pro95fs) rs1848965153
NM_001122630.2(CDKN1C):c.284C>T (p.Pro95Leu) rs1848966308
NM_001122630.2(CDKN1C):c.287G>A (p.Arg96Gln) rs763525000
NM_001122630.2(CDKN1C):c.28T>C (p.Phe10Leu) rs1590151638
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.292G>A (p.Val98Ile)
NM_001122630.2(CDKN1C):c.292G>C (p.Val98Leu)
NM_001122630.2(CDKN1C):c.292G>T (p.Val98Phe) rs2133785299
NM_001122630.2(CDKN1C):c.293T>C (p.Val98Ala) rs2133785293
NM_001122630.2(CDKN1C):c.294C>A (p.Val98=) rs932963247
NM_001122630.2(CDKN1C):c.294CGCGGT[1] (p.99AV[2])
NM_001122630.2(CDKN1C):c.294CGCGGT[3] (p.Val104_Ser105insAlaVal)
NM_001122630.2(CDKN1C):c.295_296delinsTT (p.Ala99Leu) rs1848965543
NM_001122630.2(CDKN1C):c.296C>T (p.Ala99Val)
NM_001122630.2(CDKN1C):c.296del (p.Ala99fs)
NM_001122630.2(CDKN1C):c.297G>A (p.Ala99=)
NM_001122630.2(CDKN1C):c.298G>C (p.Val100Leu) rs1848965261
NM_001122630.2(CDKN1C):c.299T>C (p.Val100Ala)
NM_001122630.2(CDKN1C):c.29T>G (p.Phe10Cys) rs2133786566
NM_001122630.2(CDKN1C):c.2T>G (p.Met1Arg) rs2133786665
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.302C>T (p.Ala101Val)
NM_001122630.2(CDKN1C):c.303G>T (p.Ala101=) rs931922290
NM_001122630.2(CDKN1C):c.305T>C (p.Val102Ala) rs2133785216
NM_001122630.2(CDKN1C):c.306G>C (p.Val102=) rs904430375
NM_001122630.2(CDKN1C):c.306G>T (p.Val102=)
NM_001122630.2(CDKN1C):c.308C>T (p.Ala103Val) rs1486019596
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.313A>C (p.Ser105Arg) rs2133785183
NM_001122630.2(CDKN1C):c.315C>A (p.Ser105Arg) rs1489450203
NM_001122630.2(CDKN1C):c.315C>T (p.Ser105=) rs1489450203
NM_001122630.2(CDKN1C):c.317C>A (p.Pro106Gln) rs945890937
NM_001122630.2(CDKN1C):c.317C>T (p.Pro106Leu) rs945890937
NM_001122630.2(CDKN1C):c.319C>T (p.Pro107Ser) rs772684721
NM_001122630.2(CDKN1C):c.31C>T (p.Pro11Ser)
NM_001122630.2(CDKN1C):c.321C>T (p.Pro107=)
NM_001122630.2(CDKN1C):c.322C>G (p.Leu108Val)
NM_001122630.2(CDKN1C):c.324C>A (p.Leu108=)
NM_001122630.2(CDKN1C):c.324C>T (p.Leu108=) rs1060503864
NM_001122630.2(CDKN1C):c.325G>C (p.Glu109Gln) rs1220263188
NM_001122630.2(CDKN1C):c.325G>T (p.Glu109Ter) rs1220263188
NM_001122630.2(CDKN1C):c.327G>C (p.Glu109Asp) rs1848962147
NM_001122630.2(CDKN1C):c.328C>T (p.Pro110Ser)
NM_001122630.2(CDKN1C):c.329C>G (p.Pro110Arg) rs1590150723
NM_001122630.2(CDKN1C):c.329C>T (p.Pro110Leu) rs1590150723
NM_001122630.2(CDKN1C):c.32C>T (p.Pro11Leu)
NM_001122630.2(CDKN1C):c.330G>A (p.Pro110=)
NM_001122630.2(CDKN1C):c.331G>T (p.Ala111Ser)
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.334G>A (p.Ala112Thr)
NM_001122630.2(CDKN1C):c.334G>T (p.Ala112Ser) rs1395949690
NM_001122630.2(CDKN1C):c.336T>A (p.Ala112=)
NM_001122630.2(CDKN1C):c.340T>A (p.Ser114Thr)
NM_001122630.2(CDKN1C):c.341C>A (p.Ser114Tyr) rs1564930282
NM_001122630.2(CDKN1C):c.342C>T (p.Ser114=) rs1404253864
NM_001122630.2(CDKN1C):c.343C>T (p.Leu115Phe) rs1302975990
NM_001122630.2(CDKN1C):c.347del (p.Asp116fs)
NM_001122630.2(CDKN1C):c.348C>T (p.Asp116=)
NM_001122630.2(CDKN1C):c.351_358del (p.Leu118fs) rs1554938087
NM_001122630.2(CDKN1C):c.352C>G (p.Leu118Val)
NM_001122630.2(CDKN1C):c.354del (p.Glu119fs) rs1590150660
NM_001122630.2(CDKN1C):c.355G>T (p.Glu119Ter) rs1564930265
NM_001122630.2(CDKN1C):c.356A>T (p.Glu119Val) rs1848959847
NM_001122630.2(CDKN1C):c.358G>A (p.Glu120Lys) rs1848959537
NM_001122630.2(CDKN1C):c.35T>G (p.Val12Gly)
NM_001122630.2(CDKN1C):c.35_50del (p.Val12fs)
NM_001122630.2(CDKN1C):c.360_361delinsCT (p.Glu120_Ala121delinsAspSer) rs1848959184
NM_001122630.2(CDKN1C):c.366G>A (p.Pro122=) rs1157920703
NM_001122630.2(CDKN1C):c.372G>T (p.Gln124His) rs1848958051
NM_001122630.2(CDKN1C):c.373C>T (p.Leu125=) rs2133784894
NM_001122630.2(CDKN1C):c.376C>G (p.Pro126Ala)
NM_001122630.2(CDKN1C):c.379A>C (p.Ser127Arg)
NM_001122630.2(CDKN1C):c.379A>G (p.Ser127Gly)
NM_001122630.2(CDKN1C):c.37C>T (p.Leu13=) rs2133786544
NM_001122630.2(CDKN1C):c.380G>C (p.Ser127Thr)
NM_001122630.2(CDKN1C):c.383TCCCGG[1] (p.128VP[1]) rs1848956788
NM_001122630.2(CDKN1C):c.383TCCCGG[3] (p.128VP[3]) rs1848956788
NM_001122630.2(CDKN1C):c.384C>T (p.Val128=) rs2133784870
NM_001122630.2(CDKN1C):c.385C>T (p.Pro129Ser) rs1848957482
NM_001122630.2(CDKN1C):c.386C>T (p.Pro129Leu)
NM_001122630.2(CDKN1C):c.387G>A (p.Pro129=)
NM_001122630.2(CDKN1C):c.387G>C (p.Pro129=) rs1590150548
NM_001122630.2(CDKN1C):c.388G>C (p.Val130Leu) rs1848957156
NM_001122630.2(CDKN1C):c.388G>T (p.Val130Phe)
NM_001122630.2(CDKN1C):c.388del (p.Val130fs)
NM_001122630.2(CDKN1C):c.390CCCGGC[3] (p.131PA[3]) rs1201148541
NM_001122630.2(CDKN1C):c.392C>T (p.Pro131Leu) rs2133784827
NM_001122630.2(CDKN1C):c.393G>A (p.Pro131=)
NM_001122630.2(CDKN1C):c.393G>T (p.Pro131=) rs1258844642
NM_001122630.2(CDKN1C):c.394_411dup (p.Ala132_Pro137dup) rs2133784738
NM_001122630.2(CDKN1C):c.398C>T (p.Pro133Leu) rs1848956315
NM_001122630.2(CDKN1C):c.399G>A (p.Pro133=) rs1848956208
NM_001122630.2(CDKN1C):c.399_415del (p.Ala134fs) rs2133784715
NM_001122630.2(CDKN1C):c.401C>A (p.Ala134Glu)
NM_001122630.2(CDKN1C):c.402G>A (p.Ala134=) rs1848955478
NM_001122630.2(CDKN1C):c.404C>G (p.Ser135Cys)
NM_001122630.2(CDKN1C):c.405C>G (p.Ser135=) rs1554938064
NM_001122630.2(CDKN1C):c.405C>T (p.Ser135=)
NM_001122630.2(CDKN1C):c.407C>A (p.Thr136Asn) rs1848955065
NM_001122630.2(CDKN1C):c.408C>T (p.Thr136=) rs1590150476
NM_001122630.2(CDKN1C):c.40G>A (p.Val14Met) rs758244300
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.410C>G (p.Pro137Arg)
NM_001122630.2(CDKN1C):c.410del (p.Pro137fs) rs2133784748
NM_001122630.2(CDKN1C):c.411G>T (p.Pro137=) rs878853625
NM_001122630.2(CDKN1C):c.412C>T (p.Pro138Ser) rs1590150454
NM_001122630.2(CDKN1C):c.413C>T (p.Pro138Leu) rs1060500175
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.415C>A (p.Pro139Thr)
NM_001122630.2(CDKN1C):c.416C>A (p.Pro139Gln)
NM_001122630.2(CDKN1C):c.416dup (p.Val140fs)
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_420del (p.Val140fs) rs1848953740
NM_001122630.2(CDKN1C):c.417_440del (p.Val140_Pro147del)
NM_001122630.2(CDKN1C):c.418G>A (p.Val140Ile) rs753342439
NM_001122630.2(CDKN1C):c.419_436dup (p.Val140_Pro145dup) rs2133784606
NM_001122630.2(CDKN1C):c.41T>G (p.Val14Gly)
NM_001122630.2(CDKN1C):c.41_44del (p.Val14fs)
NM_001122630.2(CDKN1C):c.420C>T (p.Val140=) rs2133784683
NM_001122630.2(CDKN1C):c.421C>A (p.Pro141Thr) rs1848953645
NM_001122630.2(CDKN1C):c.421C>G (p.Pro141Ala) rs1848953645
NM_001122630.2(CDKN1C):c.421C>T (p.Pro141Ser) rs1848953645
NM_001122630.2(CDKN1C):c.421_422insA (p.Pro141fs) rs2133784672
NM_001122630.2(CDKN1C):c.421_552del (p.Pro141_Val184del) rs2133783577
NM_001122630.2(CDKN1C):c.422C>G (p.Pro141Arg) rs1848953520
NM_001122630.2(CDKN1C):c.422C>T (p.Pro141Leu) rs1848953520
NM_001122630.2(CDKN1C):c.422_427del (p.139_140PV[1]) rs1060500173
NM_001122630.2(CDKN1C):c.423G>T (p.Pro141=) rs878853626
NM_001122630.2(CDKN1C):c.424G>A (p.Val142Ile)
NM_001122630.2(CDKN1C):c.425T>C (p.Val142Ala) rs1848953221
NM_001122630.2(CDKN1C):c.425_442dup (p.Val142_Pro147dup) rs1443296311
NM_001122630.2(CDKN1C):c.428T>C (p.Leu143Pro) rs1848952868
NM_001122630.2(CDKN1C):c.429G>A (p.Leu143=)
NM_001122630.2(CDKN1C):c.430G>C (p.Ala144Pro) rs1848952675
NM_001122630.2(CDKN1C):c.431C>T (p.Ala144Val) rs1848952463
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.436G>C (p.Ala146Pro) rs1848952005
NM_001122630.2(CDKN1C):c.437C>T (p.Ala146Val) rs1848951869
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.439C>G (p.Pro147Ala) rs483352981
NM_001122630.2(CDKN1C):c.43C>G (p.Arg15Gly) rs765255367
NM_001122630.2(CDKN1C):c.43C>T (p.Arg15Cys) rs765255367
NM_001122630.2(CDKN1C):c.441G>A (p.Pro147=) rs2133784568
NM_001122630.2(CDKN1C):c.442G>A (p.Ala148Thr) rs1237188823
NM_001122630.2(CDKN1C):c.442G>C (p.Ala148Pro) rs1237188823
NM_001122630.2(CDKN1C):c.443C>A (p.Ala148Asp) rs372633
NM_001122630.2(CDKN1C):c.443C>G (p.Ala148Gly)
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.445C>T (p.Pro149Ser) rs2133784532
NM_001122630.2(CDKN1C):c.446C>G (p.Pro149Arg)
NM_001122630.2(CDKN1C):c.447G>T (p.Pro149=)
NM_001122630.2(CDKN1C):c.449C>T (p.Ala150Val)
NM_001122630.2(CDKN1C):c.449CTCCGG[1] (p.144AP[4]) rs1245402442
NM_001122630.2(CDKN1C):c.449CTCCGG[3] (p.144AP[6]) 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.451C>A (p.Pro151Thr)
NM_001122630.2(CDKN1C):c.451C>T (p.Pro151Ser) rs1848950080
NM_001122630.2(CDKN1C):c.452C>T (p.Pro151Leu) rs1848949956
NM_001122630.2(CDKN1C):c.454G>A (p.Ala152Thr) rs2133784469
NM_001122630.2(CDKN1C):c.454G>T (p.Ala152Ser) rs2133784469
NM_001122630.2(CDKN1C):c.454_455insTCGCGG (p.Pro151_Ala152insValAla)
NM_001122630.2(CDKN1C):c.455CTCCGGTCGCGG[1] (p.152APVA[1]) rs565544512
NM_001122630.2(CDKN1C):c.455CTCCGGTCGCGG[2] (p.152APVA[2]) 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.457C>A (p.Pro153Thr) rs1323691763
NM_001122630.2(CDKN1C):c.459G>C (p.Pro153=)
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.461_538del (p.Val154_Pro179del) rs2133783770
NM_001122630.2(CDKN1C):c.462C>G (p.Val154=) rs1252011332
NM_001122630.2(CDKN1C):c.462_463delinsGT (p.Ala155Ser)
NM_001122630.2(CDKN1C):c.463G>C (p.Ala155Pro) rs1419349248
NM_001122630.2(CDKN1C):c.464C>T (p.Ala155Val)
NM_001122630.2(CDKN1C):c.464_465insAGCTCCGGTCGC (p.152APVA[4]) rs2133784396
NM_001122630.2(CDKN1C):c.466G>A (p.Ala156Thr) rs1038604691
NM_001122630.2(CDKN1C):c.466G>C (p.Ala156Pro)
NM_001122630.2(CDKN1C):c.467C>T (p.Ala156Val) rs2133784357
NM_001122630.2(CDKN1C):c.467_496del (p.Ala156_Ala165del) rs2133784129
NM_001122630.2(CDKN1C):c.469C>G (p.Pro157Ala) rs1848948122
NM_001122630.2(CDKN1C):c.470C>T (p.Pro157Leu) rs2133784340
NM_001122630.2(CDKN1C):c.471G>A (p.Pro157=)
NM_001122630.2(CDKN1C):c.471G>T (p.Pro157=)
NM_001122630.2(CDKN1C):c.472G>A (p.Val158Ile) rs1848947864
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.475G>A (p.Ala159Thr) rs1590150209
NM_001122630.2(CDKN1C):c.477G>A (p.Ala159=)
NM_001122630.2(CDKN1C):c.478_479insTCGCGGTC (p.Ala160fs) rs1848947450
NM_001122630.2(CDKN1C):c.479C>T (p.Ala160Val) rs1564930022
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.479_496dup (p.Ala165_Val166insAlaProValAlaValAla)
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.481C>A (p.Pro161Thr) rs1342240264
NM_001122630.2(CDKN1C):c.482C>T (p.Pro161Leu) rs2133784256
NM_001122630.2(CDKN1C):c.485T>C (p.Val162Ala) rs1848947013
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.491T>C (p.Val164Ala)
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.496G>A (p.Val166Ile) rs1060500174
NM_001122630.2(CDKN1C):c.496G>T (p.Val166Phe)
NM_001122630.2(CDKN1C):c.497_502dup (p.Leu167_Ala168insValLeu)
NM_001122630.2(CDKN1C):c.499_500delinsGC (p.Leu167Ala)
NM_001122630.2(CDKN1C):c.4G>A (p.Glu2Lys) rs2133786658
NM_001122630.2(CDKN1C):c.500T>A (p.Leu167Gln) rs1060500177
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.503C>A (p.Ala168Asp)
NM_001122630.2(CDKN1C):c.503C>T (p.Ala168Val) rs1848945535
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[2] (p.168AP[7]) 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.505C>T (p.Pro169Ser)
NM_001122630.2(CDKN1C):c.505_506insGGGCCC (p.Ala168_Pro169insArgAla) rs2133784029
NM_001122630.2(CDKN1C):c.506C>A (p.Pro169Gln) rs113374868
NM_001122630.2(CDKN1C):c.506C>G (p.Pro169Arg) rs113374868
NM_001122630.2(CDKN1C):c.506C>T (p.Pro169Leu) rs113374868
NM_001122630.2(CDKN1C):c.508G>A (p.Ala170Thr) rs1848945193
NM_001122630.2(CDKN1C):c.509C>A (p.Ala170Asp) rs1332953428
NM_001122630.2(CDKN1C):c.509C>G (p.Ala170Gly)
NM_001122630.2(CDKN1C):c.50G>C (p.Ser17Thr) rs1848980081
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.510_545dup (p.Pro183_Val184insAlaProAlaProAlaProAlaProAlaProAlaPro)
NM_001122630.2(CDKN1C):c.512C>T (p.Pro171Leu)
NM_001122630.2(CDKN1C):c.512del (p.Pro171fs)
NM_001122630.2(CDKN1C):c.514G>A (p.Ala172Thr)
NM_001122630.2(CDKN1C):c.515C>T (p.Ala172Val) rs1163195873
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.516_545dup (p.Pro183_Val184insAlaProAlaProAlaProAlaProAlaPro)
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[2] (p.168AP[7]) 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.523C>G (p.Pro175Ala)
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.526G>T (p.Ala176Ser) rs1163798897
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.529C>A (p.Pro177Thr) rs1474613343
NM_001122630.2(CDKN1C):c.529C>G (p.Pro177Ala)
NM_001122630.2(CDKN1C):c.529C>T (p.Pro177Ser) rs1474613343
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.535C>A (p.Pro179Thr)
NM_001122630.2(CDKN1C):c.536C>T (p.Pro179Leu) rs1444091895
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.538G>T (p.Ala180Ser) rs1060500180
NM_001122630.2(CDKN1C):c.539C>T (p.Ala180Val) rs2133783718
NM_001122630.2(CDKN1C):c.539_540insTCCGTC (p.Pro181_Ala182insSerPro) rs1590149802
NM_001122630.2(CDKN1C):c.53C>T (p.Ala18Val) rs1319614382
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.541C>T (p.Pro181Ser)
NM_001122630.2(CDKN1C):c.542del (p.Pro181fs)
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.543_566dup (p.Val184_Pro191dup) rs1564929761
NM_001122630.2(CDKN1C):c.544G>T (p.Ala182Ser) rs1848940392
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_554delinsTT (p.Ala185Leu) rs1590149719
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.555GGCCCC[4] (p.Pro205_Asp206insAlaProAlaPro)
NM_001122630.2(CDKN1C):c.555_566del (p.186AP[8]) rs1060503855
NM_001122630.2(CDKN1C):c.556G>T (p.Ala186Ser) rs2133783528
NM_001122630.2(CDKN1C):c.556_557insTCGCGGTCCTGGCCCCGG (p.Ala185_Ala186insValAlaValLeuAlaPro) rs2133783534
NM_001122630.2(CDKN1C):c.557C>T (p.Ala186Val) rs1590149706
NM_001122630.2(CDKN1C):c.558C>T (p.Ala186=) rs1590149701
NM_001122630.2(CDKN1C):c.559C>T (p.Pro187Ser)
NM_001122630.2(CDKN1C):c.55dup (p.Cys19fs)
NM_001122630.2(CDKN1C):c.560C>G (p.Pro187Arg) rs2583439
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.562G>A (p.Ala188Thr) rs1422110653
NM_001122630.2(CDKN1C):c.563_578delinsTCGCAGTCGCGGTCCT (p.Ala188_Pro193delinsValAlaValAlaValLeu)
NM_001122630.2(CDKN1C):c.566C>G (p.Pro189Arg) rs1848936436
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_584del (p.186_187AP[7]) rs878853636
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.568G>A (p.Ala190Thr) rs2133783351
NM_001122630.2(CDKN1C):c.568_569insTCGCGG (p.Pro189_Ala190insValAla) rs1848936176
NM_001122630.2(CDKN1C):c.569_570insTCCAGTCGCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGC (p.186_191AP[3]VAAPAPAPAPAPAP[1]) rs2133783340
NM_001122630.2(CDKN1C):c.56G>C (p.Cys19Ser) rs2133786452
NM_001122630.2(CDKN1C):c.570C>T (p.Ala190=) rs1590149634
NM_001122630.2(CDKN1C):c.572C>T (p.Pro191Leu)
NM_001122630.2(CDKN1C):c.572dup (p.Ala192fs)
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[2] (p.186AP[8]) rs759134767
NM_001122630.2(CDKN1C):c.573GGCCCC[3] (p.186AP[9]) rs759134767
NM_001122630.2(CDKN1C):c.573GGCCCC[5] (p.186AP[11]) 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.574_598dup (p.Ala200fs) rs1848931980
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.578C>A (p.Pro193Gln)
NM_001122630.2(CDKN1C):c.578C>G (p.Pro193Arg) rs2583440
NM_001122630.2(CDKN1C):c.578_579insAGTCGC (p.Pro193_Ala194insValAla)
NM_001122630.2(CDKN1C):c.578_579insCGCCCCGGCCCC (p.186AP[12]) rs2133783254
NM_001122630.2(CDKN1C):c.578_602dup (p.Ala202fs) rs1554937847
NM_001122630.2(CDKN1C):c.578del (p.Pro193fs) rs2133783249
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.57C>A (p.Cys19Ter) rs759365577
NM_001122630.2(CDKN1C):c.581_616dup (p.Pro205_Asp206insAlaProAlaProAlaProAlaProAlaProAlaPro)
NM_001122630.2(CDKN1C):c.582C>A (p.Ala194=)
NM_001122630.2(CDKN1C):c.583C>T (p.Pro195Ser)
NM_001122630.2(CDKN1C):c.585G>C (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=) rs1590149525
NM_001122630.2(CDKN1C):c.589C>G (p.Pro197Ala)
NM_001122630.2(CDKN1C):c.58C>A (p.Arg20Ser) rs1467420956
NM_001122630.2(CDKN1C):c.590C>T (p.Pro197Leu)
NM_001122630.2(CDKN1C):c.591G>A (p.Pro197=)
NM_001122630.2(CDKN1C):c.592G>A (p.Ala198Thr) rs750581456
NM_001122630.2(CDKN1C):c.593C>A (p.Ala198Asp)
NM_001122630.2(CDKN1C):c.593C>G (p.Ala198Gly) rs1564929680
NM_001122630.2(CDKN1C):c.593C>T (p.Ala198Val) 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.594C>A (p.Ala198=)
NM_001122630.2(CDKN1C):c.594C>T (p.Ala198=) rs1060503866
NM_001122630.2(CDKN1C):c.595C>T (p.Pro199Ser) rs1848932744
NM_001122630.2(CDKN1C):c.596_597insGGCCCCGGCCCCGGCCCCGGCCCCCGCCCCGGCCCCGGCCCCGGCCCCGGCCCC (p.186AP[19])
NM_001122630.2(CDKN1C):c.597C>A (p.Pro199=) rs767656648
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.598G>A (p.Ala200Thr) rs1060500178
NM_001122630.2(CDKN1C):c.598G>T (p.Ala200Ser)
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_609del (p.Ala200fs) rs1848930692
NM_001122630.2(CDKN1C):c.599_616del (p.186AP[7]) rs772704243
NM_001122630.2(CDKN1C):c.59G>A (p.Arg20His) rs2133786421
NM_001122630.2(CDKN1C):c.59G>T (p.Arg20Leu) rs2133786421
NM_001122630.2(CDKN1C):c.5A>G (p.Glu2Gly)
NM_001122630.2(CDKN1C):c.600C>A (p.Ala200=) rs1435370896
NM_001122630.2(CDKN1C):c.601C>T (p.Pro201Ser)
NM_001122630.2(CDKN1C):c.601_602insAGGCCC (p.Ala200_Pro201insGlnAla) rs2133782983
NM_001122630.2(CDKN1C):c.602C>G (p.Pro201Arg) rs1590149394
NM_001122630.2(CDKN1C):c.602C>T (p.Pro201Leu) rs1590149394
NM_001122630.2(CDKN1C):c.604G>A (p.Ala202Thr)
NM_001122630.2(CDKN1C):c.604G>T (p.Ala202Ser)
NM_001122630.2(CDKN1C):c.604del (p.Ala202fs)
NM_001122630.2(CDKN1C):c.605C>G (p.Ala202Gly)
NM_001122630.2(CDKN1C):c.605C>T (p.Ala202Val)
NM_001122630.2(CDKN1C):c.606C>T (p.Ala202=)
NM_001122630.2(CDKN1C):c.607C>A (p.Pro203Thr) rs562237921
NM_001122630.2(CDKN1C):c.607C>G (p.Pro203Ala)
NM_001122630.2(CDKN1C):c.607C>T (p.Pro203Ser)
NM_001122630.2(CDKN1C):c.608C>A (p.Pro203Gln) rs1564929606
NM_001122630.2(CDKN1C):c.608C>T (p.Pro203Leu) rs1564929606
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.60_61del (p.Ser21fs) rs2133786397
NM_001122630.2(CDKN1C):c.611C>T (p.Ala204Val) rs1060500176
NM_001122630.2(CDKN1C):c.614C>A (p.Pro205Gln)
NM_001122630.2(CDKN1C):c.614C>G (p.Pro205Arg)
NM_001122630.2(CDKN1C):c.614C>T (p.Pro205Leu)
NM_001122630.2(CDKN1C):c.614_615insCGCCCC (p.186AP[11]) rs2133782868
NM_001122630.2(CDKN1C):c.614del (p.Pro205fs) rs1564929584
NM_001122630.2(CDKN1C):c.616G>T (p.Asp206Tyr)
NM_001122630.2(CDKN1C):c.617A>G (p.Asp206Gly)
NM_001122630.2(CDKN1C):c.618C>G (p.Asp206Glu)
NM_001122630.2(CDKN1C):c.618C>T (p.Asp206=) rs751669088
NM_001122630.2(CDKN1C):c.620C>T (p.Ala207Val) rs1564929547
NM_001122630.2(CDKN1C):c.621G>C (p.Ala207=) rs1848929025
NM_001122630.2(CDKN1C):c.622G>A (p.Ala208Thr) rs2133782778
NM_001122630.2(CDKN1C):c.622G>C (p.Ala208Pro)
NM_001122630.2(CDKN1C):c.623C>A (p.Ala208Glu)
NM_001122630.2(CDKN1C):c.624G>A (p.Ala208=)
NM_001122630.2(CDKN1C):c.624G>T (p.Ala208=) rs764536797
NM_001122630.2(CDKN1C):c.625C>A (p.Pro209Thr) rs1329147434
NM_001122630.2(CDKN1C):c.626C>T (p.Pro209Leu) rs763289302
NM_001122630.2(CDKN1C):c.629A>C (p.Gln210Pro)
NM_001122630.2(CDKN1C):c.630del (p.Glu211fs)
NM_001122630.2(CDKN1C):c.631G>A (p.Glu211Lys) rs775889163
NM_001122630.2(CDKN1C):c.636C>A (p.Ser212Arg)
NM_001122630.2(CDKN1C):c.636C>G (p.Ser212Arg)
NM_001122630.2(CDKN1C):c.639C>G (p.Ala213=)
NM_001122630.2(CDKN1C):c.639C>T (p.Ala213=) rs1350387177
NM_001122630.2(CDKN1C):c.639_787+239del
NM_001122630.2(CDKN1C):c.63C>T (p.Ser21=) rs1287644577
NM_001122630.2(CDKN1C):c.640G>T (p.Glu214Ter) rs1564929520
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.644A>C (p.Gln215Pro)
NM_001122630.2(CDKN1C):c.647G>A (p.Gly216Asp)
NM_001122630.2(CDKN1C):c.648C>T (p.Gly216=) rs2133782650
NM_001122630.2(CDKN1C):c.64C>T (p.Leu22Phe) rs2133786375
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.653A>C (p.Asn218Thr) rs1848926162
NM_001122630.2(CDKN1C):c.654C>G (p.Asn218Lys) rs1232547627
NM_001122630.2(CDKN1C):c.655C>G (p.Gln219Glu)
NM_001122630.2(CDKN1C):c.655C>T (p.Gln219Ter) rs483352988
NM_001122630.2(CDKN1C):c.658G>A (p.Gly220Arg) rs1564929482
NM_001122630.2(CDKN1C):c.658G>C (p.Gly220Arg)
NM_001122630.2(CDKN1C):c.659G>A (p.Gly220Glu) rs1179846540
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.661del (p.Gln221fs)
NM_001122630.2(CDKN1C):c.662A>C (p.Gln221Pro) rs1848925193
NM_001122630.2(CDKN1C):c.662A>G (p.Gln221Arg) rs1848925193
NM_001122630.2(CDKN1C):c.662del (p.Gln221fs)
NM_001122630.2(CDKN1C):c.663G>C (p.Gln221His)
NM_001122630.2(CDKN1C):c.665_666delinsAG (p.Arg222Gln) rs1554937778
NM_001122630.2(CDKN1C):c.666C>T (p.Arg222=) rs779975908
NM_001122630.2(CDKN1C):c.667G>A (p.Gly223Ser)
NM_001122630.2(CDKN1C):c.667G>T (p.Gly223Cys) rs1848924456
NM_001122630.2(CDKN1C):c.668G>A (p.Gly223Asp) rs1203065343
NM_001122630.2(CDKN1C):c.668G>T (p.Gly223Val)
NM_001122630.2(CDKN1C):c.669C>T (p.Gly223=) rs546016935
NM_001122630.2(CDKN1C):c.66C>T (p.Leu22=) rs960994716
NM_001122630.2(CDKN1C):c.671A>G (p.Gln224Arg)
NM_001122630.2(CDKN1C):c.673G>T (p.Glu225Ter) rs1564929426
NM_001122630.2(CDKN1C):c.674A>G (p.Glu225Gly) rs2133782474
NM_001122630.2(CDKN1C):c.677C>G (p.Pro226Arg) rs1848923335
NM_001122630.2(CDKN1C):c.677C>T (p.Pro226Leu) rs1848923335
NM_001122630.2(CDKN1C):c.67_68insGAG (p.Phe23Ter) rs1848979151
NM_001122630.2(CDKN1C):c.680T>C (p.Leu227Pro)
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.682G>C (p.Ala228Pro) rs781428134
NM_001122630.2(CDKN1C):c.682G>T (p.Ala228Ser) rs781428134
NM_001122630.2(CDKN1C):c.684T>C (p.Ala228=) rs757359164
NM_001122630.2(CDKN1C):c.685G>A (p.Asp229Asn)
NM_001122630.2(CDKN1C):c.687C>G (p.Asp229Glu) rs2133782422
NM_001122630.2(CDKN1C):c.688C>T (p.Gln230Ter) rs483352991
NM_001122630.2(CDKN1C):c.691C>T (p.Leu231=)
NM_001122630.2(CDKN1C):c.695A>C (p.His232Pro)
NM_001122630.2(CDKN1C):c.696C>A (p.His232Gln) rs2133782395
NM_001122630.2(CDKN1C):c.698C>A (p.Ser233Ter) rs483352993
NM_001122630.2(CDKN1C):c.69C>T (p.Phe23=) rs1590151526
NM_001122630.2(CDKN1C):c.700G>A (p.Gly234Arg) rs1060500181
NM_001122630.2(CDKN1C):c.703A>G (p.Ile235Val)
NM_001122630.2(CDKN1C):c.704T>C (p.Ile235Thr)
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>T (p.Ser236=) rs1404692297
NM_001122630.2(CDKN1C):c.709G>A (p.Gly237Arg) rs1564929381
NM_001122630.2(CDKN1C):c.70G>A (p.Gly24Arg)
NM_001122630.2(CDKN1C):c.70G>T (p.Gly24Trp)
NM_001122630.2(CDKN1C):c.714T>A (p.Arg238=)
NM_001122630.2(CDKN1C):c.715C>T (p.Pro239Ser) rs2133782321
NM_001122630.2(CDKN1C):c.716C>A (p.Pro239His)
NM_001122630.2(CDKN1C):c.716C>T (p.Pro239Leu)
NM_001122630.2(CDKN1C):c.717C>A (p.Pro239=) rs1156886923
NM_001122630.2(CDKN1C):c.717C>T (p.Pro239=)
NM_001122630.2(CDKN1C):c.718G>A (p.Ala240Thr)
NM_001122630.2(CDKN1C):c.718G>C (p.Ala240Pro) rs1848920240
NM_001122630.2(CDKN1C):c.719C>T (p.Ala240Val) rs765542916
NM_001122630.2(CDKN1C):c.719_730delinsGTGC (p.Ala240fs) rs1554937726
NM_001122630.2(CDKN1C):c.720G>A (p.Ala240=) rs1848920006
NM_001122630.2(CDKN1C):c.721G>A (p.Ala241Thr)
NM_001122630.2(CDKN1C):c.724G>C (p.Gly242Arg)
NM_001122630.2(CDKN1C):c.724G>T (p.Gly242Cys) rs1462025809
NM_001122630.2(CDKN1C):c.724_727dup (p.Thr243fs)
NM_001122630.2(CDKN1C):c.725_736del (p.Gly242_Ala245del) rs1341703910
NM_001122630.2(CDKN1C):c.725_736dup (p.Gly242_Ala245dup) rs1341703910
NM_001122630.2(CDKN1C):c.725_742del (p.Gly242_Ser247del)
NM_001122630.2(CDKN1C):c.727_747del (p.Thr243_Asn249del) rs1848917841
NM_001122630.2(CDKN1C):c.728C>T (p.Thr243Ile) rs1247486281
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.730_744dup (p.Ala248_Asn249insAlaAlaAlaSerAla)
NM_001122630.2(CDKN1C):c.730del (p.Ala244fs)
NM_001122630.2(CDKN1C):c.731C>T (p.Ala244Val) rs1848919037
NM_001122630.2(CDKN1C):c.733G>A (p.Ala245Thr) rs1848918918
NM_001122630.2(CDKN1C):c.734C>T (p.Ala245Val)
NM_001122630.2(CDKN1C):c.735C>A (p.Ala245=)
NM_001122630.2(CDKN1C):c.735C>T (p.Ala245=) rs2133782212
NM_001122630.2(CDKN1C):c.735_755del (p.Ala246_Ala252del) rs2133782047
NM_001122630.2(CDKN1C):c.738C>G (p.Ala246=) rs2133782169
NM_001122630.2(CDKN1C):c.738C>T (p.Ala246=)
NM_001122630.2(CDKN1C):c.73C>T (p.Pro25Ser)
NM_001122630.2(CDKN1C):c.740G>C (p.Ser247Thr)
NM_001122630.2(CDKN1C):c.741C>T (p.Ser247=) rs761296394
NM_001122630.2(CDKN1C):c.742G>A (p.Ala248Thr) rs773881541
NM_001122630.2(CDKN1C):c.744C>T (p.Ala248=) rs1590148914
NM_001122630.2(CDKN1C):c.745A>C (p.Asn249His)
NM_001122630.2(CDKN1C):c.745_757del (p.Asn249fs) rs2133782023
NM_001122630.2(CDKN1C):c.748_749del (p.Gly250fs) rs2133782104
NM_001122630.2(CDKN1C):c.74C>A (p.Pro25Gln) rs1564930749
NM_001122630.2(CDKN1C):c.74C>G (p.Pro25Arg) rs1564930749
NM_001122630.2(CDKN1C):c.74C>T (p.Pro25Leu)
NM_001122630.2(CDKN1C):c.74_75del (p.Pro25fs) rs1848978708
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.754G>A (p.Ala252Thr)
NM_001122630.2(CDKN1C):c.756G>A (p.Ala252=)
NM_001122630.2(CDKN1C):c.758T>G (p.Ile253Ser)
NM_001122630.2(CDKN1C):c.759C>G (p.Ile253Met) rs2133782008
NM_001122630.2(CDKN1C):c.759C>T (p.Ile253=)
NM_001122630.2(CDKN1C):c.75G>A (p.Pro25=)
NM_001122630.2(CDKN1C):c.761A>G (p.Lys254Arg) rs1848916589
NM_001122630.2(CDKN1C):c.764A>G (p.Lys255Arg) rs2133782000
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.76G>T (p.Val26Leu)
NM_001122630.2(CDKN1C):c.770C>T (p.Ser257Phe) rs2133781980
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.771_786del (p.Gly258fs) rs1848915004
NM_001122630.2(CDKN1C):c.772G>T (p.Gly258Trp)
NM_001122630.2(CDKN1C):c.773G>C (p.Gly258Ala)
NM_001122630.2(CDKN1C):c.775C>A (p.Pro259Thr) rs1416211722
NM_001122630.2(CDKN1C):c.775C>G (p.Pro259Ala)
NM_001122630.2(CDKN1C):c.775C>T (p.Pro259Ser) rs1416211722
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.785C>G (p.Ser262Cys) rs1564929254
NM_001122630.2(CDKN1C):c.786del (p.Asp263fs) rs1848914894
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+19del rs2133781831
NM_001122630.2(CDKN1C):c.787+1G>A rs1554937699
NM_001122630.2(CDKN1C):c.787+20G>A
NM_001122630.2(CDKN1C):c.787+4A>G
NM_001122630.2(CDKN1C):c.787+4_787+27delinsGGCCGTG
NM_001122630.2(CDKN1C):c.787+5G>A
NM_001122630.2(CDKN1C):c.787+6C>T rs1564929236
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.787G>A (p.Asp263Asn) rs387907225
NM_001122630.2(CDKN1C):c.788-11G>A
NM_001122630.2(CDKN1C):c.788-12_788-5del
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.788-2A>G rs2133780388
NM_001122630.2(CDKN1C):c.788-3C>T rs2133780392
NM_001122630.2(CDKN1C):c.788-4G>A rs764972822
NM_001122630.2(CDKN1C):c.788-4_788-1del
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.788-9C>A rs483352995
NM_001122630.2(CDKN1C):c.790_791insC (p.Phe264fs)
NM_001122630.2(CDKN1C):c.796G>A (p.Ala266Thr) rs759474789
NM_001122630.2(CDKN1C):c.796G>C (p.Ala266Pro) rs759474789
NM_001122630.2(CDKN1C):c.796G>T (p.Ala266Ser) rs759474789
NM_001122630.2(CDKN1C):c.799A>C (p.Lys267Gln) rs387907226
NM_001122630.2(CDKN1C):c.79G>A (p.Asp27Asn) rs1848978520
NM_001122630.2(CDKN1C):c.7C>A (p.Arg3Ser)
NM_001122630.2(CDKN1C):c.802del (p.Arg268fs)
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.807G>A (p.Lys269=) rs1848882642
NM_001122630.2(CDKN1C):c.808A>C (p.Arg270=) rs483352996
NM_001122630.2(CDKN1C):c.809G>C (p.Arg270Thr)
NM_001122630.2(CDKN1C):c.809_810del (p.Arg270fs) rs2133780268
NM_001122630.2(CDKN1C):c.812C>G (p.Ser271Ter) rs267606716
NM_001122630.2(CDKN1C):c.812del (p.Arg270_Ser271insTer)
NM_001122630.2(CDKN1C):c.813A>T (p.Ser271=)
NM_001122630.2(CDKN1C):c.814G>C (p.Ala272Pro) rs1377763757
NM_001122630.2(CDKN1C):c.816G>A (p.Ala272=) rs1554937506
NM_001122630.2(CDKN1C):c.818C>T (p.Pro273Leu) rs1848881396
NM_001122630.2(CDKN1C):c.820G>T (p.Glu274Ter)
NM_001122630.2(CDKN1C):c.822G>A (p.Glu274=)
NM_001122630.2(CDKN1C):c.824A>G (p.Lys275Arg) rs2133780240
NM_001122630.2(CDKN1C):c.825G>A (p.Lys275=) rs1314520245
NM_001122630.2(CDKN1C):c.827C>G (p.Ser276Trp) 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.832G>T (p.Gly278Cys) rs1391074477
NM_001122630.2(CDKN1C):c.835G>A (p.Asp279Asn) rs1352481541
NM_001122630.2(CDKN1C):c.836A>G (p.Asp279Gly)
NM_001122630.2(CDKN1C):c.837del (p.Asp279fs)
NM_001122630.2(CDKN1C):c.838_861del (p.Val280_Pro287del)
NM_001122630.2(CDKN1C):c.840C>A (p.Val280=) rs2133780180
NM_001122630.2(CDKN1C):c.841C>G (p.Pro281Ala) rs1564928669
NM_001122630.2(CDKN1C):c.842C>G (p.Pro281Arg)
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.845C>T (p.Ala282Val)
NM_001122630.2(CDKN1C):c.846G>A (p.Ala282=) rs1848879035
NM_001122630.2(CDKN1C):c.848C>A (p.Pro283Gln)
NM_001122630.2(CDKN1C):c.848C>G (p.Pro283Arg) rs2133780137
NM_001122630.2(CDKN1C):c.848C>T (p.Pro283Leu)
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.852T>G (p.Cys284Trp)
NM_001122630.2(CDKN1C):c.853C>G (p.Pro285Ala) rs531059713
NM_001122630.2(CDKN1C):c.854C>G (p.Pro285Arg)
NM_001122630.2(CDKN1C):c.855C>G (p.Pro285=) rs779172459
NM_001122630.2(CDKN1C):c.85G>A (p.Glu29Lys)
NM_001122630.2(CDKN1C):c.85G>T (p.Glu29Ter) rs1564930723
NM_001122630.2(CDKN1C):c.860C>G (p.Pro287Arg) rs868414645
NM_001122630.2(CDKN1C):c.861A>C (p.Pro287=) rs1848877871
NM_001122630.2(CDKN1C):c.862A>G (p.Ser288Gly)
NM_001122630.2(CDKN1C):c.864C>T (p.Ser288=) rs1554937479
NM_001122630.2(CDKN1C):c.867C>T (p.Ala289=)
NM_001122630.2(CDKN1C):c.868G>T (p.Ala290Ser) rs749702191
NM_001122630.2(CDKN1C):c.869C>T (p.Ala290Val)
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.872C>T (p.Pro291Leu)
NM_001122630.2(CDKN1C):c.872del (p.Pro291fs) rs483352997
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.877G>C (p.Val293Leu) rs1848875591
NM_001122630.2(CDKN1C):c.879G>C (p.Val293=)
NM_001122630.2(CDKN1C):c.880G>A (p.Gly294Ser)
NM_001122630.2(CDKN1C):c.881G>A (p.Gly294Asp) rs962524119
NM_001122630.2(CDKN1C):c.882C>T (p.Gly294=) rs2133779977
NM_001122630.2(CDKN1C):c.884C>T (p.Ser295Leu) rs750876855
NM_001122630.2(CDKN1C):c.885G>A (p.Ser295=) rs1060503861
NM_001122630.2(CDKN1C):c.886G>A (p.Val296Met) rs1848874863
NM_001122630.2(CDKN1C):c.88_89delinsTT (p.Glu30Leu) rs2133786273
NM_001122630.2(CDKN1C):c.892C>G (p.Gln298Glu)
NM_001122630.2(CDKN1C):c.893A>G (p.Gln298Arg)
NM_001122630.2(CDKN1C):c.893A>T (p.Gln298Leu)
NM_001122630.2(CDKN1C):c.894G>C (p.Gln298His)
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.902G>A (p.Arg301His) rs1161543117
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.908G>A (p.Arg303Lys) rs1015057194
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.913C>T (p.Arg305Trp) rs2133779874
NM_001122630.2(CDKN1C):c.91C>A (p.Leu31Met) rs2133786240
NM_001122630.2(CDKN1C):c.91C>G (p.Leu31Val)
NM_001122630.2(CDKN1C):c.92T>C (p.Leu31Pro) rs1848977725
NM_001122630.2(CDKN1C):c.95_96insA (p.Ser32fs) rs2133786225
NM_001122630.2(CDKN1C):c.96C>T (p.Ser32=)
NM_001122630.2(CDKN1C):c.98G>A (p.Arg33His) rs1477382841
NM_001122630.2(CDKN1C):c.98G>T (p.Arg33Leu) rs1477382841
NM_022455.5(NSD1):c.1046_1048delinsT (p.Thr349fs) rs1581254366
NM_022455.5(NSD1):c.1509delinsGA (p.Asp504fs) rs1562205351
NM_022455.5(NSD1):c.1609_1610delinsC (p.Phe537fs) rs1763204241
NM_022455.5(NSD1):c.1654del (p.Ser552fs) rs1060501497
NM_022455.5(NSD1):c.1797C>T (p.Ile599=) rs1554189107
NM_022455.5(NSD1):c.1816A>T (p.Lys606Ter) rs1554189131
NM_022455.5(NSD1):c.207C>A (p.Tyr69Ter) rs1562097849
NM_022455.5(NSD1):c.2148T>G (p.Thr716=) rs780294858
NM_022455.5(NSD1):c.2256_2257del (p.Pro753fs) rs1581319715
NM_022455.5(NSD1):c.2316_2329dup (p.Leu777fs) rs1554189490
NM_022455.5(NSD1):c.2334dup (p.His779fs) rs1554189512
NM_022455.5(NSD1):c.2619_2623del (p.Glu874fs) rs1060501490
NM_022455.5(NSD1):c.2760_2763del (p.Ser920fs) rs1064794051
NM_022455.5(NSD1):c.3386_3387del (p.Ser1128_Phe1129insTer) rs1554190214
NM_022455.5(NSD1):c.3422del (p.Met1141fs) rs1554190247
NM_022455.5(NSD1):c.3548_3549insGA (p.Glu1184fs) rs878855075
NM_022455.5(NSD1):c.3556_3557delinsAT (p.Ala1186Ile) rs797044760
NM_022455.5(NSD1):c.3570dup (p.Leu1191fs) rs1562213553
NM_022455.5(NSD1):c.3659_3660del (p.Glu1220fs) rs587784104
NM_022455.5(NSD1):c.3968_3969dup (p.Ser1324fs) rs1554195840
NM_022455.5(NSD1):c.4162G>A (p.Glu1388Lys) rs1581408218
NM_022455.5(NSD1):c.4213C>T (p.Gln1405Ter) rs1581411478
NM_022455.5(NSD1):c.4226_4229del (p.Thr1409fs) rs1765713589
NM_022455.5(NSD1):c.4766-1G>A rs1756517678
NM_022455.5(NSD1):c.5146+2dup rs1581468671
NM_022455.5(NSD1):c.5276T>C (p.Ile1759Thr) rs1060501498
NM_022455.5(NSD1):c.5410T>A (p.Tyr1804Asn) rs1581497686
NM_022455.5(NSD1):c.5437_5440del (p.Phe1813fs) rs1554202205
NM_022455.5(NSD1):c.5994del (p.Met1998fs) rs878855077
NM_022455.5(NSD1):c.6014G>A (p.Arg2005Gln) rs587784174
NM_022455.5(NSD1):c.6020_6021dup (p.Asp2008fs) rs1554204923
NM_022455.5(NSD1):c.6089A>C (p.Gln2030Pro) rs1554204952
NM_022455.5(NSD1):c.6366T>G (p.Phe2122Leu) rs1562305653
NM_022455.5(NSD1):c.7914C>T (p.Pro2638=) rs781650846
NM_022455.5(NSD1):c.880_881del (p.Glu294fs) rs1060501492

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