ClinVar Miner

List of variants studied for Beckwith-Wiedemann syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 690
Download table as spreadsheet
HGVS dbSNP
CDKN1C, 1-BP DEL/2-BP INS, 1086T-AG
H19, 1.8-KB DEL
H19, 5.3-KB DEL
KCNQ1OT1, DEL
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.2023045G>A rs431825163
NG_016165.1:g.(170_?)_(?_2014)del
NM_000076.2(CDKN1C):c.-266G>A rs147317732
NM_000076.2(CDKN1C):c.-84G>A rs188494894
NM_000076.2(CDKN1C):c.820+10G>A rs777855717
NM_000076.2(CDKN1C):c.820+1G>A rs1554937699
NM_000076.2(CDKN1C):c.821-5C>G rs775227462
NM_000076.2(CDKN1C):c.821-5C>T rs775227462
NM_001122630.2(CDKN1C):c.*5+2T>C rs587777866
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 rs1352961367
NM_001122630.2(CDKN1C):c.-10-20T>G rs748680303
NM_001122630.2(CDKN1C):c.-10-23A>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) rs749713233
NM_001122630.2(CDKN1C):c.112C>T (p.Arg38Cys)
NM_001122630.2(CDKN1C):c.11T>C (p.Leu4Pro) rs756961090
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) rs1450572665
NM_001122630.2(CDKN1C):c.140A>G (p.Gln47Arg)
NM_001122630.2(CDKN1C):c.142A>G (p.Asn48Asp)
NM_001122630.2(CDKN1C):c.149G>C (p.Trp50Ser) rs1554938211
NM_001122630.2(CDKN1C):c.152_160del (p.Asp51_Phe54delinsVal)
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=) rs1441014990
NM_001122630.2(CDKN1C):c.17C>T (p.Ala6Val) rs1477196859
NM_001122630.2(CDKN1C):c.182G>A (p.Arg61Gln)
NM_001122630.2(CDKN1C):c.184G>A (p.Gly62Ser)
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) rs1475576590
NM_001122630.2(CDKN1C):c.207C>T (p.Thr69=) rs1310156157
NM_001122630.2(CDKN1C):c.208G>C (p.Glu70Gln)
NM_001122630.2(CDKN1C):c.213G>A (p.Val71=) rs141005361
NM_001122630.2(CDKN1C):c.219C>T (p.Ser73=) rs1295465465
NM_001122630.2(CDKN1C):c.223T>G (p.Ser75Ala)
NM_001122630.2(CDKN1C):c.225G>C (p.Ser75=) rs1015104953
NM_001122630.2(CDKN1C):c.230C>T (p.Pro77Leu) rs1590151038
NM_001122630.2(CDKN1C):c.232G>A (p.Ala78Thr) rs1177512372
NM_001122630.2(CDKN1C):c.233C>T (p.Ala78Val)
NM_001122630.2(CDKN1C):c.238T>C (p.Tyr80His) rs1060499712
NM_001122630.2(CDKN1C):c.241C>A (p.Arg81Ser)
NM_001122630.2(CDKN1C):c.262C>T (p.Arg88Cys) rs1356534188
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.283C>T (p.Pro95Ser)
NM_001122630.2(CDKN1C):c.283_300delinsG (p.Pro95fs)
NM_001122630.2(CDKN1C):c.284C>T (p.Pro95Leu)
NM_001122630.2(CDKN1C):c.287G>A (p.Arg96Gln)
NM_001122630.2(CDKN1C):c.28T>C (p.Phe10Leu) rs1590151638
NM_001122630.2(CDKN1C):c.291C>T (p.Pro97=) rs534471786
NM_001122630.2(CDKN1C):c.295_296delinsTT (p.Ala99Leu)
NM_001122630.2(CDKN1C):c.298G>C (p.Val100Leu)
NM_001122630.2(CDKN1C):c.300dup (p.Ala101fs) rs786205235
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=) rs770277810
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) rs945890937
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) rs1395949690
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.343C>T (p.Leu115Phe)
NM_001122630.2(CDKN1C):c.351C>T (p.Gly117=) rs1465084800
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) rs1590150660
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.361G>A (p.Ala121Thr)
NM_001122630.2(CDKN1C):c.362C>T (p.Ala121Val) rs1364155293
NM_001122630.2(CDKN1C):c.365C>T (p.Pro122Leu) rs1590150577
NM_001122630.2(CDKN1C):c.367G>C (p.Glu123Gln) rs1013695050
NM_001122630.2(CDKN1C):c.367dup (p.Glu123fs) rs786205236
NM_001122630.2(CDKN1C):c.372G>T (p.Gln124His)
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.385C>T (p.Pro129Ser)
NM_001122630.2(CDKN1C):c.390_395CCCGGC[3] (p.131_132PA[3]) rs1201148541
NM_001122630.2(CDKN1C):c.395C>T (p.Ala132Val) rs896475967
NM_001122630.2(CDKN1C):c.398C>T (p.Pro133Leu)
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.407C>A (p.Thr136Asn)
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.411G>A (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.414_431del (p.Val140_Pro145del) rs1159599818
NM_001122630.2(CDKN1C):c.417A>T (p.Pro139=) rs1486402339
NM_001122630.2(CDKN1C):c.417_420del (p.Val140fs)
NM_001122630.2(CDKN1C):c.418G>A (p.Val140Ile) rs753342439
NM_001122630.2(CDKN1C):c.422C>T (p.Pro141Leu)
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.425T>C (p.Val142Ala)
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=) rs1381073956
NM_001122630.2(CDKN1C):c.436G>C (p.Ala146Pro)
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.440C>T (p.Pro147Leu) rs1320293569
NM_001122630.2(CDKN1C):c.442G>A (p.Ala148Thr) rs1237188823
NM_001122630.2(CDKN1C):c.442G>C (p.Ala148Pro)
NM_001122630.2(CDKN1C):c.443C>A (p.Ala148Asp) rs372633
NM_001122630.2(CDKN1C):c.443C>T (p.Ala148Val)
NM_001122630.2(CDKN1C):c.449_454CTCCGG[3] (p.144_145AP[6]) rs1245402442
NM_001122630.2(CDKN1C):c.450T>A (p.Ala150=) rs898729531
NM_001122630.2(CDKN1C):c.451C>T (p.Pro151Ser)
NM_001122630.2(CDKN1C):c.452C>T (p.Pro151Leu)
NM_001122630.2(CDKN1C):c.453G>A (p.Pro151=) rs1262607893
NM_001122630.2(CDKN1C):c.455_466CTCCGGTCGCGG[1] (p.152_155APVA[1]) rs565544512
NM_001122630.2(CDKN1C):c.455_466CTCCGGTCGCGG[2] (p.152_155APVA[2]) rs565544512
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) rs1590150209
NM_001122630.2(CDKN1C):c.479C>T (p.Ala160Val)
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=) rs1463366525
NM_001122630.2(CDKN1C):c.485T>C (p.Val162Ala)
NM_001122630.2(CDKN1C):c.487_492GCGGTC[1] (p.163_164AV[1]) rs889984547
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) rs1288020047
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_509CCCGGC[1] (p.168_169AP[6]) rs878853629
NM_001122630.2(CDKN1C):c.504_509CCCGGC[2] (p.168_169AP[7]) rs878853629
NM_001122630.2(CDKN1C):c.504_509CCCGGC[4] (p.168_169AP[9]) rs878853629
NM_001122630.2(CDKN1C):c.504_521del (p.168_169AP[5]) rs878853629
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.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=) 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.516_527del (p.168_169AP[6]) rs1249284743
NM_001122630.2(CDKN1C):c.522T>C (p.Ala174=) rs191294997
NM_001122630.2(CDKN1C):c.522_527TCCGGC[2] (p.168_169AP[7]) rs878853632
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]) rs878853631
NM_001122630.2(CDKN1C):c.528T>C (p.Ala176=) rs384713
NM_001122630.2(CDKN1C):c.529C>A (p.Pro177Thr)
NM_001122630.2(CDKN1C):c.530C>T (p.Pro177Leu)
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.534T>C (p.Ala178=) rs112196492
NM_001122630.2(CDKN1C):c.536C>T (p.Pro179Leu)
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) rs1590149802
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.543_566dup (p.Val184_Pro191dup)
NM_001122630.2(CDKN1C):c.544G>T (p.Ala182Ser)
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) rs1590149645
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=) rs1590149737
NM_001122630.2(CDKN1C):c.553G>C (p.Ala185Pro) rs1281835164
NM_001122630.2(CDKN1C):c.553_554delinsTT (p.Ala185Leu) rs1590149719
NM_001122630.2(CDKN1C):c.555_560GGCCCC[1] (p.186_187AP[9]) rs1060503855
NM_001122630.2(CDKN1C):c.555_560GGCCCC[3] (p.186_187AP[11]) rs1060503855
NM_001122630.2(CDKN1C):c.560C>G (p.Pro187Arg) rs2583439
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_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_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.573_578GGCCCC[1] (p.186_187AP[7]) rs759134767
NM_001122630.2(CDKN1C):c.573_578GGCCCC[2] (p.186_187AP[8]) rs759134767
NM_001122630.2(CDKN1C):c.573_578GGCCCC[3] (p.186_187AP[9]) rs759134767
NM_001122630.2(CDKN1C):c.573_578GGCCCC[5] (p.186_187AP[11]) rs759134767
NM_001122630.2(CDKN1C):c.573_578GGCCCC[6] (p.186_187AP[12]) rs759134767
NM_001122630.2(CDKN1C):c.574_598dup (p.Ala200fs)
NM_001122630.2(CDKN1C):c.577C>G (p.Pro193Ala) rs1345683292
NM_001122630.2(CDKN1C):c.578C>G (p.Pro193Arg) rs2583440
NM_001122630.2(CDKN1C):c.578C>T (p.Pro193Leu)
NM_001122630.2(CDKN1C):c.578_602dup (p.Ala202fs) rs1554937847
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=) rs1368082798
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=) rs1590149525
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>A (p.Pro199=)
NM_001122630.2(CDKN1C):c.597C>G (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.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_604CCCCGG[1] (p.186_187AP[8]) rs772704243
NM_001122630.2(CDKN1C):c.599_604CCCCGG[2] (p.186_187AP[9]) rs772704243
NM_001122630.2(CDKN1C):c.599_609del (p.Ala200fs)
NM_001122630.2(CDKN1C):c.602C>T (p.Pro201Leu) rs1590149394
NM_001122630.2(CDKN1C):c.602del (p.Pro201fs) rs786205237
NM_001122630.2(CDKN1C):c.608C>T (p.Pro203Leu) rs1564929606
NM_001122630.2(CDKN1C):c.608_611delinsGGG (p.Pro203fs) rs786205240
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.615G>A (p.Pro205=)
NM_001122630.2(CDKN1C):c.620C>T (p.Ala207Val) rs1564929547
NM_001122630.2(CDKN1C):c.625C>A (p.Pro209Thr)
NM_001122630.2(CDKN1C):c.626C>T (p.Pro209Leu) rs763289302
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.637_652delinsCCC (p.Ala213fs)
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.655C>T (p.Gln219Ter) rs483352988
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=) rs546016935
NM_001122630.2(CDKN1C):c.66C>T (p.Leu22=) rs960994716
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.677C>T (p.Pro226Leu)
NM_001122630.2(CDKN1C):c.679C>T (p.Leu227Phe) rs878853640
NM_001122630.2(CDKN1C):c.67_68insGAG (p.Phe23Ter)
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.719_730delinsGTGC (p.Ala240fs) rs1554937726
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) rs773881541
NM_001122630.2(CDKN1C):c.744C>T (p.Ala248=) rs1590148914
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.74_75del (p.Pro25fs)
NM_001122630.2(CDKN1C):c.751G>A (p.Ala251Thr) rs1300586071
NM_001122630.2(CDKN1C):c.753G>T (p.Ala251=) rs775458829
NM_001122630.2(CDKN1C):c.756G>C (p.Ala252=) rs1269967508
NM_001122630.2(CDKN1C):c.761A>G (p.Lys254Arg)
NM_001122630.2(CDKN1C):c.765G>A (p.Lys255=) rs1590148866
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.772G>C (p.Gly258Arg)
NM_001122630.2(CDKN1C):c.775C>A (p.Pro259Thr) rs1416211722
NM_001122630.2(CDKN1C):c.775C>T (p.Pro259Ser) rs1416211722
NM_001122630.2(CDKN1C):c.777T>G (p.Pro259=) rs1395099180
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.787+6C>T rs1564929236
NM_001122630.2(CDKN1C):c.788-8G>T rs762520730
NM_001122630.2(CDKN1C):c.788-9C>A rs483352995
NM_001122630.2(CDKN1C):c.796G>C (p.Ala266Pro) rs759474789
NM_001122630.2(CDKN1C):c.796G>T (p.Ala266Ser)
NM_001122630.2(CDKN1C):c.79G>A (p.Asp27Asn)
NM_001122630.2(CDKN1C):c.804C>T (p.Arg268=) rs1564928743
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) rs1377763757
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.832G>T (p.Gly278Cys)
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=) rs779172459
NM_001122630.2(CDKN1C):c.855C>T (p.Pro285=) rs779172459
NM_001122630.2(CDKN1C):c.85G>T (p.Glu29Ter)
NM_001122630.2(CDKN1C):c.864C>T (p.Ser288=) rs1554937479
NM_001122630.2(CDKN1C):c.865G>T (p.Ala289Ser) rs755160554
NM_001122630.2(CDKN1C):c.868G>T (p.Ala290Ser) rs749702191
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.876C>T (p.Gly292=) rs377216794
NM_001122630.2(CDKN1C):c.881G>T (p.Gly294Val)
NM_001122630.2(CDKN1C):c.885G>A (p.Ser295=)
NM_001122630.2(CDKN1C):c.885G>C (p.Ser295=) rs1060503861
NM_001122630.2(CDKN1C):c.886G>A (p.Val296Met)
NM_001122630.2(CDKN1C):c.888G>T (p.Val296=) rs763529383
NM_001122630.2(CDKN1C):c.900G>A (p.Pro300=) rs1364915876
NM_001122630.2(CDKN1C):c.903C>T (p.Arg301=)
NM_001122630.2(CDKN1C):c.908G>A (p.Arg303Lys)
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_001130823.3(DNMT1):c.3353A>G (p.His1118Arg) rs150331990
NM_001130823.3(DNMT1):c.3668G>A (p.Arg1223His) rs757460628
NM_001130823.3(DNMT1):c.406C>T (p.Arg136Cys) rs138841970
NM_001362475.2(CDKN1C):c.255+161del rs786205234
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+318GGCCCC[8] rs759134767
NM_001362475.2(CDKN1C):c.255+344CCCCGG[4] rs772704243
NM_022455.4(NSD1):c.1046_1048delinsT (p.Thr349fs) rs1581254366
NM_022455.4(NSD1):c.1149C>T (p.Ile383=) rs34921128
NM_022455.4(NSD1):c.1159G>C (p.Glu387Gln) rs1374361789
NM_022455.4(NSD1):c.1252T>C (p.Leu418=) rs201329783
NM_022455.4(NSD1):c.1290G>A (p.Gln430=) rs535674820
NM_022455.4(NSD1):c.1317C>T (p.Asn439=) rs150421873
NM_022455.4(NSD1):c.1367C>T (p.Pro456Leu) rs775730406
NM_022455.4(NSD1):c.1414C>T (p.Leu472Phe) rs371775975
NM_022455.4(NSD1):c.1477C>G (p.Pro493Ala) rs375051877
NM_022455.4(NSD1):c.1478C>T (p.Pro493Leu) rs140583358
NM_022455.4(NSD1):c.1483G>A (p.Ala495Thr) rs752490855
NM_022455.4(NSD1):c.1492C>T (p.Arg498Ter) rs1581315609
NM_022455.4(NSD1):c.1495G>A (p.Ala499Thr) rs587784075
NM_022455.4(NSD1):c.1515T>C (p.Asn505=) rs114747882
NM_022455.4(NSD1):c.1558G>A (p.Ala520Thr) rs559617787
NM_022455.4(NSD1):c.1574G>A (p.Arg525Gln) rs138405802
NM_022455.4(NSD1):c.1605A>G (p.Leu535=) rs746977419
NM_022455.4(NSD1):c.1606A>C (p.Asn536His) rs1554188985
NM_022455.4(NSD1):c.1654del (p.Ser552fs) rs1060501497
NM_022455.4(NSD1):c.1664C>T (p.Ala555Val) rs925398929
NM_022455.4(NSD1):c.1666A>G (p.Asn556Asp) rs143571876
NM_022455.4(NSD1):c.1690G>T (p.Ala564Ser) rs116520623
NM_022455.4(NSD1):c.1729A>T (p.Thr577Ser) rs370153971
NM_022455.4(NSD1):c.1760del (p.Gly587fs) rs1581316964
NM_022455.4(NSD1):c.1792T>C (p.Leu598=) rs28932176
NM_022455.4(NSD1):c.1797C>T (p.Ile599=) rs1554189107
NM_022455.4(NSD1):c.1810C>T (p.Arg604Ter) rs587784076
NM_022455.4(NSD1):c.1811G>T (p.Arg604Leu) rs61744451
NM_022455.4(NSD1):c.1816A>T (p.Lys606Ter) rs1554189131
NM_022455.4(NSD1):c.1879G>A (p.Gly627Ser) rs1449506408
NM_022455.4(NSD1):c.1906A>G (p.Ile636Val) rs1410310481
NM_022455.4(NSD1):c.2008G>A (p.Asp670Asn) rs1554189230
NM_022455.4(NSD1):c.2049_2053del (p.Ile684fs) rs587784080
NM_022455.4(NSD1):c.2071G>A (p.Ala691Thr) rs28932177
NM_022455.4(NSD1):c.2079C>G (p.Asn693Lys) rs766184697
NM_022455.4(NSD1):c.207C>A (p.Tyr69Ter) rs1562097849
NM_022455.4(NSD1):c.2148T>G (p.Thr716=) rs780294858
NM_022455.4(NSD1):c.2153G>A (p.Ser718Asn) rs781142476
NM_022455.4(NSD1):c.2169C>T (p.Thr723=) rs11948062
NM_022455.4(NSD1):c.2170G>A (p.Glu724Lys) rs771456995
NM_022455.4(NSD1):c.2231C>T (p.Ser744Leu) rs1581319591
NM_022455.4(NSD1):c.2295C>T (p.Asn765=) rs146767413
NM_022455.4(NSD1):c.2316_2329dup (p.Leu777fs) rs1554189490
NM_022455.4(NSD1):c.2334dup (p.His779fs) rs1554189512
NM_022455.4(NSD1):c.2339C>T (p.Ser780Leu) rs201327209
NM_022455.4(NSD1):c.2350C>G (p.Gln784Glu) rs374740802
NM_022455.4(NSD1):c.2362C>T (p.Arg788Ter) rs1057520339
NM_022455.4(NSD1):c.2416A>G (p.Ile806Val) rs1562208925
NM_022455.4(NSD1):c.241A>G (p.Met81Val) rs763781326
NM_022455.4(NSD1):c.2450C>T (p.Ser817Phe) rs115722008
NM_022455.4(NSD1):c.2465C>G (p.Ser822Cys) rs377684553
NM_022455.4(NSD1):c.2619_2623del (p.Glu874fs) rs1060501490
NM_022455.4(NSD1):c.2760_2763del (p.Ser920fs) rs1064794051
NM_022455.4(NSD1):c.2835T>C (p.Ser945=) rs145987330
NM_022455.4(NSD1):c.29G>A (p.Arg10Lys) rs1581089074
NM_022455.4(NSD1):c.3000C>T (p.Ser1000=) rs150854966
NM_022455.4(NSD1):c.3067C>T (p.Arg1023Ter) rs587784095
NM_022455.4(NSD1):c.3106G>C (p.Ala1036Pro) rs28932179
NM_022455.4(NSD1):c.3114G>T (p.Met1038Ile) rs1581324163
NM_022455.4(NSD1):c.3187A>G (p.Thr1063Ala) rs193290006
NM_022455.4(NSD1):c.3214C>T (p.Arg1072Ter) rs587784098
NM_022455.4(NSD1):c.3215G>A (p.Arg1072Gln) rs28932180
NM_022455.4(NSD1):c.3286C>T (p.His1096Tyr) rs202208033
NM_022455.4(NSD1):c.3330C>T (p.Phe1110=) rs541077303
NM_022455.4(NSD1):c.3331G>T (p.Asp1111Tyr) rs151165525
NM_022455.4(NSD1):c.3352G>A (p.Asp1118Asn) rs1348023231
NM_022455.4(NSD1):c.3386_3387del (p.Ser1128_Phe1129insTer) rs1554190214
NM_022455.4(NSD1):c.3389A>G (p.Glu1130Gly) rs113856002
NM_022455.4(NSD1):c.3393C>T (p.Asn1131=) rs150296373
NM_022455.4(NSD1):c.3394G>A (p.Gly1132Arg) rs570278983
NM_022455.4(NSD1):c.339C>T (p.Cys113=) rs77093936
NM_022455.4(NSD1):c.3422del (p.Met1141fs) rs1554190247
NM_022455.4(NSD1):c.3500G>A (p.Arg1167His) rs763399938
NM_022455.4(NSD1):c.3512G>A (p.Arg1171His) rs111638717
NM_022455.4(NSD1):c.3513dup (p.Lys1172Ter) rs1562213291
NM_022455.4(NSD1):c.3548_3549insGA (p.Glu1184fs) rs878855075
NM_022455.4(NSD1):c.3549dup (p.Glu1184Ter) rs797045813
NM_022455.4(NSD1):c.3556_3557delinsAT (p.Ala1186Ile) rs797044760
NM_022455.4(NSD1):c.3570dup (p.Leu1191fs) rs1562213553
NM_022455.4(NSD1):c.3682G>C (p.Asp1228His) rs1161564727
NM_022455.4(NSD1):c.3697C>T (p.Arg1233Trp) rs771467409
NM_022455.4(NSD1):c.3722G>C (p.Ser1241Thr) rs138641637
NM_022455.4(NSD1):c.3757A>G (p.Ile1253Val) rs1581327291
NM_022455.4(NSD1):c.3803G>A (p.Arg1268Gln) rs368706736
NM_022455.4(NSD1):c.3839G>A (p.Trp1280Ter) rs587784105
NM_022455.4(NSD1):c.3868del (p.Gln1290fs) rs1554195302
NM_022455.4(NSD1):c.3869A>C (p.Gln1290Pro) rs1562242250
NM_022455.4(NSD1):c.3964C>T (p.Arg1322Ter) rs587784107
NM_022455.4(NSD1):c.3968_3969dup (p.Ser1324fs) rs1554195840
NM_022455.4(NSD1):c.4091G>T (p.Gly1364Val) rs1554195876
NM_022455.4(NSD1):c.4118T>C (p.Leu1373Ser) rs1554195885
NM_022455.4(NSD1):c.4162G>A (p.Glu1388Lys) rs1581408218
NM_022455.4(NSD1):c.4213C>T (p.Gln1405Ter) rs1581411478
NM_022455.4(NSD1):c.4306T>C (p.Tyr1436His) rs1435199225
NM_022455.4(NSD1):c.4307A>G (p.Tyr1436Cys) rs574641900
NM_022455.4(NSD1):c.436A>G (p.Ile146Val) rs745885259
NM_022455.4(NSD1):c.4378+3_4378+6del rs1562251194
NM_022455.4(NSD1):c.4379-2A>G rs1581429903
NM_022455.4(NSD1):c.4411C>T (p.Arg1471Ter) rs570278338
NM_022455.4(NSD1):c.4417C>T (p.Arg1473Ter) rs587784117
NM_022455.4(NSD1):c.4428T>A (p.His1476Gln) rs1581430053
NM_022455.4(NSD1):c.4473G>T (p.Ser1491=) rs150920473
NM_022455.4(NSD1):c.4520C>T (p.Thr1507Met) rs144900277
NM_022455.4(NSD1):c.4574T>C (p.Met1525Thr) rs1060501491
NM_022455.4(NSD1):c.4583C>T (p.Ser1528Phe) rs1581433960
NM_022455.4(NSD1):c.4605C>T (p.Arg1535=) rs140229717
NM_022455.4(NSD1):c.4645T>G (p.Cys1549Gly) rs1562259810
NM_022455.4(NSD1):c.4665G>A (p.Leu1555=) rs779537845
NM_022455.4(NSD1):c.4777T>A (p.Cys1593Ser) rs1060501495
NM_022455.4(NSD1):c.480C>T (p.Asp160=) rs79427433
NM_022455.4(NSD1):c.4856G>A (p.Cys1619Tyr) rs1554199411
NM_022455.4(NSD1):c.4858G>A (p.Val1620Ile) rs774169673
NM_022455.4(NSD1):c.4932dup (p.Ala1645fs) rs1562265336
NM_022455.4(NSD1):c.4988G>A (p.Arg1663His) rs1562269357
NM_022455.4(NSD1):c.5007C>G (p.His1669Gln) rs146414176
NM_022455.4(NSD1):c.5007C>T (p.His1669=) rs146414176
NM_022455.4(NSD1):c.5020del (p.Cys1674fs) rs1581468355
NM_022455.4(NSD1):c.5146+1G>A rs587784139
NM_022455.4(NSD1):c.5146+2dup rs1581468671
NM_022455.4(NSD1):c.5149G>C (p.Gly1717Arg) rs1562278357
NM_022455.4(NSD1):c.5177C>G (p.Pro1726Arg) rs1554201713
NM_022455.4(NSD1):c.524C>T (p.Thr175Ile) rs1554167548
NM_022455.4(NSD1):c.5273A>G (p.Glu1758Gly) rs1581491894
NM_022455.4(NSD1):c.5276T>C (p.Ile1759Thr) rs1060501498
NM_022455.4(NSD1):c.5281T>C (p.Trp1761Arg) rs1060501489
NM_022455.4(NSD1):c.5303+1G>C rs587784141
NM_022455.4(NSD1):c.5304-1G>C rs863224905
NM_022455.4(NSD1):c.5310G>C (p.Trp1770Cys) rs1060501496
NM_022455.4(NSD1):c.5332C>T (p.Arg1778Ter) rs794727176
NM_022455.4(NSD1):c.5410T>A (p.Tyr1804Asn) rs1581497686
NM_022455.4(NSD1):c.5431C>T (p.Arg1811Ter) rs587784148
NM_022455.4(NSD1):c.5437_5440del (p.Phe1813fs) rs1554202205
NM_022455.4(NSD1):c.549C>T (p.Ile183=) rs758535770
NM_022455.4(NSD1):c.5510-10G>A rs767198805
NM_022455.4(NSD1):c.5581C>T (p.Arg1861Ter) rs886041218
NM_022455.4(NSD1):c.5712C>T (p.Pro1904=) rs756321444
NM_022455.4(NSD1):c.5714G>C (p.Cys1905Ser) rs1554204110
NM_022455.4(NSD1):c.5736C>G (p.Ile1912Met) rs1562292890
NM_022455.4(NSD1):c.5781C>G (p.Ala1927=) rs61749654
NM_022455.4(NSD1):c.5849T>G (p.Leu1950Ter) rs1581527915
NM_022455.4(NSD1):c.5854C>T (p.Arg1952Trp) rs886041219
NM_022455.4(NSD1):c.5885T>C (p.Ile1962Thr) rs587784162
NM_022455.4(NSD1):c.5892+1G>A rs886039579
NM_022455.4(NSD1):c.5927T>C (p.Ile1976Thr) rs587784167
NM_022455.4(NSD1):c.5950C>T (p.Arg1984Ter) rs797045057
NM_022455.4(NSD1):c.5951G>A (p.Arg1984Gln) rs587784169
NM_022455.4(NSD1):c.5994del (p.Met1998fs) rs878855077
NM_022455.4(NSD1):c.6001C>T (p.Leu2001=) rs587784172
NM_022455.4(NSD1):c.6013C>T (p.Arg2005Ter) rs587784173
NM_022455.4(NSD1):c.6014G>A (p.Arg2005Gln) rs587784174
NM_022455.4(NSD1):c.6020_6021dup (p.Asp2008fs) rs1554204923
NM_022455.4(NSD1):c.6049C>T (p.Arg2017Trp) rs587784176
NM_022455.4(NSD1):c.6050G>A (p.Arg2017Gln) rs587784177
NM_022455.4(NSD1):c.6086C>T (p.Thr2029Ile) rs587784181
NM_022455.4(NSD1):c.6089A>C (p.Gln2030Pro) rs1554204952
NM_022455.4(NSD1):c.6152-5T>G rs755758018
NM_022455.4(NSD1):c.6258G>T (p.Lys2086Asn) rs1581548127
NM_022455.4(NSD1):c.6259-8A>T rs370529039
NM_022455.4(NSD1):c.6317del (p.Lys2106fs) rs1562305497
NM_022455.4(NSD1):c.6349C>T (p.Arg2117Ter) rs587784190
NM_022455.4(NSD1):c.6356A>G (p.Asp2119Gly) rs587784191
NM_022455.4(NSD1):c.6366T>G (p.Phe2122Leu) rs1562305653
NM_022455.4(NSD1):c.6370T>G (p.Cys2124Gly) rs1562305665
NM_022455.4(NSD1):c.639C>T (p.Ser213=) rs755931458
NM_022455.4(NSD1):c.6413G>A (p.Cys2138Tyr) rs587784195
NM_022455.4(NSD1):c.6424T>G (p.Tyr2142Asp) rs1562305920
NM_022455.4(NSD1):c.6426C>G (p.Tyr2142Ter) rs1060501493
NM_022455.4(NSD1):c.6429C>T (p.His2143=) rs121908068
NM_022455.4(NSD1):c.6437G>A (p.Cys2146Tyr) rs1554206834
NM_022455.4(NSD1):c.6437dup (p.Cys2146fs) rs1554206836
NM_022455.4(NSD1):c.6444T>C (p.Asn2148=) rs146601031
NM_022455.4(NSD1):c.6454C>T (p.Arg2152Ter) rs587784199
NM_022455.4(NSD1):c.6463+8C>A rs147592452
NM_022455.4(NSD1):c.6463G>A (p.Gly2155Arg) rs1554206845
NM_022455.4(NSD1):c.6487C>T (p.Gln2163Ter) rs1060501494
NM_022455.4(NSD1):c.6500G>A (p.Cys2167Tyr) rs587784205
NM_022455.4(NSD1):c.6524G>A (p.Cys2175Tyr) rs1581562963
NM_022455.4(NSD1):c.6547T>G (p.Cys2183Gly) rs1554207287
NM_022455.4(NSD1):c.6605G>A (p.Cys2202Tyr) rs121908071
NM_022455.4(NSD1):c.6673C>G (p.Pro2225Ala) rs1418961998
NM_022455.4(NSD1):c.6680C>T (p.Pro2227Leu) rs748597598
NM_022455.4(NSD1):c.6750G>A (p.Met2250Ile) rs35848863
NM_022455.4(NSD1):c.6782T>C (p.Met2261Thr) rs34165241
NM_022455.4(NSD1):c.6887T>C (p.Val2296Ala) rs754309202
NM_022455.4(NSD1):c.6991G>A (p.Asp2331Asn) rs772981865
NM_022455.4(NSD1):c.7016C>T (p.Pro2339Leu) rs1581564675
NM_022455.4(NSD1):c.7049T>C (p.Leu2350Pro) rs750785772
NM_022455.4(NSD1):c.7145C>T (p.Thr2382Ile) rs148027433
NM_022455.4(NSD1):c.7152G>C (p.Leu2384=) rs758847471
NM_022455.4(NSD1):c.7180A>G (p.Ile2394Val) rs1554207690
NM_022455.4(NSD1):c.7275A>G (p.Leu2425=) rs139879749
NM_022455.4(NSD1):c.7379A>G (p.Asp2460Gly) rs1406542990
NM_022455.4(NSD1):c.7414C>T (p.Pro2472Ser) rs143159061
NM_022455.4(NSD1):c.7452A>G (p.Pro2484=) rs146676933
NM_022455.4(NSD1):c.7500G>C (p.Met2500Ile) rs770120153
NM_022455.4(NSD1):c.7531G>C (p.Asp2511His) rs575229932
NM_022455.4(NSD1):c.7575C>T (p.Asp2525=) rs148891711
NM_022455.4(NSD1):c.7576C>T (p.Pro2526Ser) rs373932824
NM_022455.4(NSD1):c.7597C>G (p.Leu2533Val) rs398124386
NM_022455.4(NSD1):c.760C>T (p.Leu254Phe) rs149334244
NM_022455.4(NSD1):c.7618T>C (p.Ser2540Pro) rs750441093
NM_022455.4(NSD1):c.7636G>A (p.Ala2546Thr) rs78247455
NM_022455.4(NSD1):c.7690G>T (p.Glu2564Ter) rs749416834
NM_022455.4(NSD1):c.7748del (p.Met2583fs) rs1562311573
NM_022455.4(NSD1):c.7780G>A (p.Ala2594Thr) rs146010779
NM_022455.4(NSD1):c.7850T>C (p.Leu2617Ser) rs77618751
NM_022455.4(NSD1):c.7897C>T (p.Arg2633Trp) rs758475990
NM_022455.4(NSD1):c.7908C>T (p.Leu2636=) rs143159630
NM_022455.4(NSD1):c.7914C>T (p.Pro2638=) rs781650846
NM_022455.4(NSD1):c.793A>G (p.Ile265Val) rs771587260
NM_022455.4(NSD1):c.8018C>G (p.Pro2673Arg) rs1554208207
NM_022455.4(NSD1):c.8048A>G (p.Gln2683Arg) rs374110615
NM_022455.4(NSD1):c.8071G>A (p.Ala2691Thr) rs201823140
NM_022455.4(NSD1):c.816C>A (p.Asn272Lys) rs144524958
NM_022455.4(NSD1):c.880_881del (p.Glu294fs) rs1060501492
NM_022455.4(NSD1):c.983G>A (p.Trp328Ter) rs1554185405
NM_022455.5(NSD1):c.1253T>A (p.Leu418Ter)
NM_022455.5(NSD1):c.1288C>G (p.Gln430Glu)
NM_022455.5(NSD1):c.1333G>C (p.Gly445Arg)
NM_022455.5(NSD1):c.145C>T (p.Gln49Ter)
NM_022455.5(NSD1):c.1609_1610delinsC (p.Phe537fs)
NM_022455.5(NSD1):c.1894C>T (p.Arg632Ter)
NM_022455.5(NSD1):c.2032A>G (p.Met678Val)
NM_022455.5(NSD1):c.2083A>G (p.Arg695Gly)
NM_022455.5(NSD1):c.2097dup (p.Gln700fs)
NM_022455.5(NSD1):c.2215_2217del (p.Val739del)
NM_022455.5(NSD1):c.2279G>C (p.Ser760Thr)
NM_022455.5(NSD1):c.2685T>G (p.Ser895Arg)
NM_022455.5(NSD1):c.2776C>T (p.Arg926Trp)
NM_022455.5(NSD1):c.3068G>A (p.Arg1023Gln)
NM_022455.5(NSD1):c.3692G>A (p.Gly1231Glu)
NM_022455.5(NSD1):c.3698G>A (p.Arg1233Gln)
NM_022455.5(NSD1):c.3770C>T (p.Thr1257Ile)
NM_022455.5(NSD1):c.3781dup (p.Glu1261fs)
NM_022455.5(NSD1):c.4124del (p.Val1375fs)
NM_022455.5(NSD1):c.4193-10T>C
NM_022455.5(NSD1):c.4216del (p.Arg1406fs)
NM_022455.5(NSD1):c.4226_4229del (p.Thr1409fs)
NM_022455.5(NSD1):c.4332C>T (p.Gly1444=)
NM_022455.5(NSD1):c.4380C>T (p.Gly1460=)
NM_022455.5(NSD1):c.4523C>A (p.Ala1508Asp)
NM_022455.5(NSD1):c.4702del (p.Leu1568fs)
NM_022455.5(NSD1):c.4709G>C (p.Cys1570Ser)
NM_022455.5(NSD1):c.4766-1G>A
NM_022455.5(NSD1):c.4843T>A (p.Tyr1615Asn)
NM_022455.5(NSD1):c.4847A>G (p.His1616Arg)
NM_022455.5(NSD1):c.5121T>C (p.Val1707=)
NM_022455.5(NSD1):c.5198G>T (p.Cys1733Phe)
NM_022455.5(NSD1):c.5243_5244del (p.Asp1747_Cys1748insTer)
NM_022455.5(NSD1):c.5462G>A (p.Ser1821Asn)
NM_022455.5(NSD1):c.5509+2T>G
NM_022455.5(NSD1):c.557A>T (p.Glu186Val)
NM_022455.5(NSD1):c.5684G>A (p.Cys1895Tyr)
NM_022455.5(NSD1):c.5685C>G (p.Cys1895Trp)
NM_022455.5(NSD1):c.5714G>A (p.Cys1905Tyr)
NM_022455.5(NSD1):c.5774G>A (p.Cys1925Tyr)
NM_022455.5(NSD1):c.5799C>A (p.Asn1933Lys)
NM_022455.5(NSD1):c.6208T>G (p.Cys2070Gly)
NM_022455.5(NSD1):c.6320G>A (p.Arg2107His)
NM_022455.5(NSD1):c.6413G>C (p.Cys2138Ser)
NM_022455.5(NSD1):c.6436T>C (p.Cys2146Arg)
NM_022455.5(NSD1):c.6488_6498del (p.Gln2163fs)
NM_022455.5(NSD1):c.6490T>C (p.Cys2164Arg)
NM_022455.5(NSD1):c.6533G>T (p.Cys2178Phe)
NM_022455.5(NSD1):c.6543del (p.Cys2183fs)
NM_022455.5(NSD1):c.658_666del (p.Gly220_Val222del)
NM_022455.5(NSD1):c.6667C>T (p.Pro2223Ser)
NM_022455.5(NSD1):c.6683_6684delinsCT (p.Leu2228Pro)
NM_022455.5(NSD1):c.7144A>G (p.Thr2382Ala)
NM_022455.5(NSD1):c.7196A>C (p.Lys2399Thr)
NM_022455.5(NSD1):c.7352G>A (p.Arg2451Lys)
NM_022455.5(NSD1):c.750AGC[1] (p.Ala252del) rs398124385
NM_022455.5(NSD1):c.7615C>G (p.Leu2539Val)
NM_172349.2(NSD1):c.1443_1444TC[3] (p.Pro484fs) rs1581319715
NM_172349.2(NSD1):c.1579_1582del (p.Glu527fs) rs587784086
NM_172349.2(NSD1):c.2572_2573CT[2] (p.Ser859fs) rs587784101
NM_172349.2(NSD1):c.2850_2851AG[1] (p.Glu951fs) rs587784104
NM_172349.2(NSD1):c.702delinsGA (p.Asp235fs) rs1562205351
NR_002196.1(H19):n.-7080_-1781del
NR_131224.1(H19):n.-297A>C rs587777745
NR_131224.1(H19):n.-317_-297del rs431825165
NR_131224.1(H19):n.249+1110G>T rs431825167
NR_131224.1(H19):n.249+135C>T rs431825164
NR_131224.1(H19):n.249+189G>T rs431825168
NR_131224.1(H19):n.249+510A>T rs431825166
NR_131224.1(H19):n.249+613T>A rs431825169

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.