NM_005618.4(DLL1):c.1802_1804del (p.Asp601_Ile602delinsVal)
|
rs573197356
|
0.00301
|
NM_018055.5(NODAL):c.*328G>A
|
rs543607155
|
0.00286
|
NM_003244.4(TGIF1):c.123C>T (p.Asn41=)
|
rs138292737
|
0.00135
|
NM_018055.5(NODAL):c.*678G>A
|
rs374692279
|
0.00130
|
NM_001378964.1(CDON):c.*609dup
|
rs111312273
|
0.00116
|
NM_001369769.2(KIFC2):c.*775C>T
|
rs562738425
|
0.00075
|
NM_018055.5(NODAL):c.555C>A (p.Pro185=)
|
rs368748141
|
0.00061
|
NM_018055.5(NODAL):c.972G>A (p.Leu324=)
|
rs143903715
|
0.00056
|
NM_003923.2(FOXH1):c.-543C>T
|
rs757929550
|
0.00046
|
NM_003923.3(FOXH1):c.1049A>G (p.Asp350Gly)
|
rs138792321
|
0.00045
|
NM_003923.2(FOXH1):c.-527C>T
|
rs574309684
|
0.00035
|
NM_018055.5(NODAL):c.*121C>A
|
rs578069296
|
0.00034
|
NM_018055.5(NODAL):c.*887C>T
|
rs553447349
|
0.00029
|
NM_003923.3(FOXH1):c.473G>C (p.Ser158Thr)
|
rs752459708
|
0.00014
|
NM_018055.5(NODAL):c.*820G>C
|
rs941592035
|
0.00014
|
NM_018055.5(NODAL):c.*836G>C
|
rs886047098
|
0.00013
|
NM_001369769.2(KIFC2):c.*761T>C
|
rs1024459830
|
0.00011
|
NM_001378964.1(CDON):c.*3522_*3523del
|
rs886047944
|
0.00011
|
NM_001393530.1(MATN4):c.1688-7C>A
|
rs200891394
|
0.00011
|
NM_003923.3(FOXH1):c.416C>A (p.Ala139Asp)
|
rs373424413
|
0.00011
|
NM_018055.5(NODAL):c.*360A>G
|
rs576189812
|
0.00011
|
NM_003923.3(FOXH1):c.1056G>A (p.Ala352=)
|
rs142762918
|
0.00009
|
NM_003923.2(FOXH1):c.-506G>A
|
rs886062759
|
0.00007
|
NM_003923.3(FOXH1):c.548C>T (p.Pro183Leu)
|
rs200095132
|
0.00007
|
NM_018055.5(NODAL):c.*480G>A
|
rs886047101
|
0.00007
|
NM_001369769.2(KIFC2):c.*677G>C
|
rs148389554
|
0.00006
|
NM_003923.3(FOXH1):c.386G>A (p.Arg129Gln)
|
rs149905713
|
0.00006
|
NM_003923.3(FOXH1):c.685G>A (p.Glu229Lys)
|
rs749154097
|
0.00006
|
NM_018055.5(NODAL):c.221C>T (p.Thr74Met)
|
rs886047104
|
0.00006
|
NM_003923.3(FOXH1):c.40G>A (p.Ala14Thr)
|
rs1007629465
|
0.00005
|
NM_003923.3(FOXH1):c.560C>T (p.Pro187Leu)
|
rs371197993
|
0.00005
|
NM_003923.3(FOXH1):c.224A>G (p.Glu75Gly)
|
rs761837057
|
0.00004
|
NM_003923.3(FOXH1):c.478C>G (p.Pro160Ala)
|
rs759179996
|
0.00004
|
NM_003923.3(FOXH1):c.812C>T (p.Ala271Val)
|
rs372121961
|
0.00004
|
NM_003923.3(FOXH1):c.13A>T (p.Ser5Cys)
|
rs774860387
|
0.00003
|
NM_003923.3(FOXH1):c.653C>T (p.Pro218Leu)
|
rs770944195
|
0.00003
|
NM_003923.3(FOXH1):c.933G>C (p.Trp311Cys)
|
rs140090667
|
0.00003
|
NM_003923.3(FOXH1):c.958C>T (p.Pro320Ser)
|
rs761520666
|
0.00003
|
NM_018055.5(NODAL):c.-9C>T
|
rs756480830
|
0.00003
|
NM_003923.3(FOXH1):c.122T>C (p.Met41Thr)
|
rs369306218
|
0.00002
|
NM_003923.3(FOXH1):c.376G>A (p.Ala126Thr)
|
rs377691075
|
0.00002
|
NM_018055.5(NODAL):c.*729A>G
|
rs753318696
|
0.00002
|
NM_000264.5(PTCH1):c.2460C>T (p.Tyr820=)
|
rs766227557
|
0.00001
|
NM_001369769.2(KIFC2):c.*398G>A
|
rs886062751
|
0.00001
|
NM_001369769.2(KIFC2):c.*413C>T
|
rs1825046297
|
0.00001
|
NM_001369769.2(KIFC2):c.*467G>A
|
rs961808166
|
0.00001
|
NM_001377229.1(DISP1):c.743C>T (p.Ala248Val)
|
rs1029577112
|
0.00001
|
NM_003923.2(FOXH1):c.-206C>T
|
rs886062756
|
0.00001
|
NM_003923.2(FOXH1):c.-337G>A
|
rs1825143123
|
0.00001
|
NM_003923.3(FOXH1):c.1004C>T (p.Pro335Leu)
|
rs1421316442
|
0.00001
|
NM_003923.3(FOXH1):c.1024G>A (p.Asp342Asn)
|
rs536501327
|
0.00001
|
NM_003923.3(FOXH1):c.406G>T (p.Ala136Ser)
|
rs777086342
|
0.00001
|
NM_003923.3(FOXH1):c.442G>A (p.Val148Met)
|
rs886062753
|
0.00001
|
NM_003923.3(FOXH1):c.44A>T (p.Glu15Val)
|
rs781140141
|
0.00001
|
NM_003923.3(FOXH1):c.572C>T (p.Pro191Leu)
|
rs1270394786
|
0.00001
|
NM_003923.3(FOXH1):c.577C>A (p.Pro193Thr)
|
rs778695747
|
0.00001
|
NM_003923.3(FOXH1):c.58C>T (p.Pro20Ser)
|
rs778783647
|
0.00001
|
NM_003923.3(FOXH1):c.727C>T (p.Leu243Phe)
|
rs768693604
|
0.00001
|
NM_003923.3(FOXH1):c.81G>A (p.Arg27=)
|
rs1272355873
|
0.00001
|
NM_003923.3(FOXH1):c.889C>T (p.Pro297Ser)
|
rs1341732331
|
0.00001
|
NM_003923.3(FOXH1):c.974G>A (p.Cys325Tyr)
|
rs770253235
|
0.00001
|
NM_018055.5(NODAL):c.*676C>T
|
rs886047100
|
0.00001
|
NM_018055.5(NODAL):c.203T>C (p.Val68Ala)
|
rs886047105
|
0.00001
|
NM_018055.5(NODAL):c.280C>T (p.Arg94Trp)
|
rs778607015
|
0.00001
|
NM_018055.5(NODAL):c.393G>C (p.Arg131=)
|
rs765235855
|
0.00001
|
NM_018055.5(NODAL):c.512A>T (p.Lys171Met)
|
rs573873795
|
0.00001
|
NM_018055.5(NODAL):c.514C>G (p.Gln172Glu)
|
rs886047102
|
0.00001
|
NM_018055.5(NODAL):c.550C>T (p.Pro184Ser)
|
rs752979542
|
0.00001
|
NM_018055.5(NODAL):c.593C>A (p.Ser198Tyr)
|
rs377663429
|
0.00001
|
NM_018055.5(NODAL):c.670G>A (p.Glu224Lys)
|
rs1470460821
|
0.00001
|
NC_000008.10:g.(?_143822561)_(145743168_?)dup
|
|
|
NC_000008.11:g.(?_144474218)_(144475776_?)dup
|
|
|
NC_000008.11:g.(?_144475137)_(144475776_?)dup
|
|
|
NM_000193.4(SHH):c.468C>A (p.Ser156Arg)
|
rs1554494372
|
|
NM_000264.5(PTCH1):c.*1866TG[12]
|
rs59205702
|
|
NM_000264.5(PTCH1):c.*2288dup
|
rs548096592
|
|
NM_001369769.2(KIFC2):c.*419C>T
|
rs1825046517
|
|
NM_001369769.2(KIFC2):c.*426C>T
|
rs1362803083
|
|
NM_001369769.2(KIFC2):c.*495G>A
|
rs1825050087
|
|
NM_001369769.2(KIFC2):c.*527G>T
|
rs1440626432
|
|
NM_001369769.2(KIFC2):c.*612_*614del
|
rs550365735
|
|
NM_001374353.1(GLI2):c.*1330CA[4]
|
rs1349034466
|
|
NM_001374353.1(GLI2):c.*1330_*1331insCTACAC
|
rs886054822
|
|
NM_001374353.1(GLI2):c.*1333AC[19]
|
rs59277032
|
|
NM_001374353.1(GLI2):c.*1333AC[20]
|
rs59277032
|
|
NM_001374353.1(GLI2):c.*1333AC[21]
|
rs59277032
|
|
NM_001374353.1(GLI2):c.*1333AC[23]
|
rs59277032
|
|
NM_001374353.1(GLI2):c.*1333AC[24]
|
rs59277032
|
|
NM_001374353.1(GLI2):c.*1333AC[25]
|
rs59277032
|
|
NM_001374353.1(GLI2):c.*1333AC[26]
|
rs59277032
|
|
NM_001374353.1(GLI2):c.*1376_*1377insACACCCC
|
rs1553480327
|
|
NM_001374353.1(GLI2):c.*1376_*1377insACCC
|
rs1553480327
|
|
NM_001374353.1(GLI2):c.*1376_*1377insACCCCC
|
rs1553480327
|
|
NM_001374353.1(GLI2):c.*1376_*1379dup
|
rs1553480328
|
|
NM_001374353.1(GLI2):c.*1837_*1840dup
|
rs558203417
|
|
NM_001374353.1(GLI2):c.*81_*82del
|
rs886054819
|
|
NM_001378074.1(BOC):c.1670G>A (p.Gly557Glu)
|
rs1553745274
|
|
NM_001378964.1(CDON):c.*1310dup
|
rs886047972
|
|
NM_001378964.1(CDON):c.*1506dup
|
rs886047969
|
|
NM_001378964.1(CDON):c.*1508A>G
|
rs886047968
|
|
NM_001378964.1(CDON):c.*2283_*2285del
|
rs879891676
|
|
NM_001378964.1(CDON):c.*2345_*2349delinsAACACACACAC
|
rs886047960
|
|
NM_001378964.1(CDON):c.*2345_*2349delinsAACACACACACAC
|
rs886047960
|
|
NM_001378964.1(CDON):c.*2351CA[12]
|
rs35654681
|
|
NM_001378964.1(CDON):c.*2351CA[14]
|
rs35654681
|
|
NM_001378964.1(CDON):c.*2351CA[16]
|
rs35654681
|
|
NM_001378964.1(CDON):c.*2351CA[17]
|
rs35654681
|
|
NM_001378964.1(CDON):c.*2373_*2378del
|
rs886047957
|
|
NM_001378964.1(CDON):c.*2376AC[2]ATA[1]
|
rs371911236
|
|
NM_001378964.1(CDON):c.*2376AC[2]AT[3]A[1]
|
rs371911236
|
|
NM_001378964.1(CDON):c.*2376AC[3]AT[2]A[1]
|
rs371911236
|
|
NM_001378964.1(CDON):c.*2376AC[3]AT[3]A[1]
|
rs371911236
|
|
NM_001378964.1(CDON):c.*2376AC[4]ATA[1]
|
rs371911236
|
|
NM_001378964.1(CDON):c.*2376AC[4]AT[2]A[1]
|
rs371911236
|
|
NM_001378964.1(CDON):c.*2376AC[5]ATA[1]
|
rs371911236
|
|
NM_001378964.1(CDON):c.*2376AC[5]AT[2]A[1]
|
rs371911236
|
|
NM_001378964.1(CDON):c.*2376AC[6]ATA[1]
|
rs371911236
|
|
NM_001378964.1(CDON):c.*2376AC[8]AT[2]A[1]
|
rs371911236
|
|
NM_001378964.1(CDON):c.*2376_*2377insCATA
|
rs371911236
|
|
NM_001378964.1(CDON):c.*2376_*2377insCATATA
|
rs371911236
|
|
NM_001378964.1(CDON):c.*2377TA[10]
|
rs140500280
|
|
NM_001378964.1(CDON):c.*2377TA[12]
|
rs140500280
|
|
NM_001378964.1(CDON):c.*2377_*2379delinsCACACACACAC
|
rs886047956
|
|
NM_001378964.1(CDON):c.*2377_*2379delinsCACACACACACACAC
|
rs886047956
|
|
NM_001378964.1(CDON):c.*2377delinsCACACACACACACAC
|
rs886047958
|
|
NM_001378964.1(CDON):c.*2377delinsCACACACACACACACAC
|
rs886047958
|
|
NM_001378964.1(CDON):c.*2378_*2379insCA
|
rs886047955
|
|
NM_001378964.1(CDON):c.*2379CA[3]
|
rs886047955
|
|
NM_001378964.1(CDON):c.*2379CA[6]
|
rs886047955
|
|
NM_001378964.1(CDON):c.*2380_*2381insCA
|
rs886047954
|
|
NM_001378964.1(CDON):c.*2380_*2381insCACA
|
rs886047954
|
|
NM_001378964.1(CDON):c.*2381CA[3]
|
rs886047954
|
|
NM_001378964.1(CDON):c.*2381CA[5]
|
rs886047954
|
|
NM_001378964.1(CDON):c.-61-15del
|
rs886047980
|
|
NM_001378964.1(CDON):c.-61-9_-61-7del
|
rs557544550
|
|
NM_001378964.1(CDON):c.1553-17TC[3]
|
rs762936563
|
|
NM_001378964.1(CDON):c.2429C>G (p.Ser810Cys)
|
rs746038393
|
|
NM_003244.4(TGIF1):c.*133A>G
|
rs886053783
|
|
NM_003244.4(TGIF1):c.*336T>C
|
rs886053785
|
|
NM_003923.2(FOXH1):c.-140delC
|
rs569877410
|
|
NM_003923.2(FOXH1):c.-275G>T
|
rs1586729061
|
|
NM_003923.2(FOXH1):c.-280G>A
|
rs886062757
|
|
NM_003923.2(FOXH1):c.-307G>C
|
rs145418332
|
|
NM_003923.2(FOXH1):c.-446T>C
|
rs886062758
|
|
NM_003923.3(FOXH1):c.*21C>A
|
rs1825066619
|
|
NM_003923.3(FOXH1):c.-53G>A
|
rs1232940437
|
|
NM_003923.3(FOXH1):c.100C>T (p.Pro34Ser)
|
|
|
NM_003923.3(FOXH1):c.1057G>A (p.Ala353Thr)
|
|
|
NM_003923.3(FOXH1):c.1060C>T (p.Pro354Ser)
|
|
|
NM_003923.3(FOXH1):c.128C>T (p.Ala43Val)
|
rs1825126970
|
|
NM_003923.3(FOXH1):c.147_149del (p.Pro50del)
|
rs2130041524
|
|
NM_003923.3(FOXH1):c.167T>G (p.Leu56Arg)
|
|
|
NM_003923.3(FOXH1):c.182G>A (p.Arg61His)
|
rs138436343
|
|
NM_003923.3(FOXH1):c.182G>T (p.Arg61Leu)
|
|
|
NM_003923.3(FOXH1):c.214_217del (p.Glu72fs)
|
|
|
NM_003923.3(FOXH1):c.244C>A (p.Arg82Ser)
|
|
|
NM_003923.3(FOXH1):c.254_265del (p.Leu85_Asn88del)
|
rs2130039684
|
|
NM_003923.3(FOXH1):c.260C>G (p.Ser87Cys)
|
rs886062755
|
|
NM_003923.3(FOXH1):c.296C>A (p.Ala99Glu)
|
|
|
NM_003923.3(FOXH1):c.2T>A (p.Met1Lys)
|
|
|
NM_003923.3(FOXH1):c.385C>T (p.Arg129Trp)
|
|
|
NM_003923.3(FOXH1):c.389G>A (p.Arg130His)
|
rs886062754
|
|
NM_003923.3(FOXH1):c.403G>A (p.Gly135Ser)
|
|
|
NM_003923.3(FOXH1):c.424A>G (p.Lys142Glu)
|
rs1488443353
|
|
NM_003923.3(FOXH1):c.470C>G (p.Pro157Arg)
|
|
|
NM_003923.3(FOXH1):c.507C>G (p.Ile169Met)
|
rs780001651
|
|
NM_003923.3(FOXH1):c.527C>A (p.Ser176Tyr)
|
|
|
NM_003923.3(FOXH1):c.557C>T (p.Ala186Val)
|
rs763280219
|
|
NM_003923.3(FOXH1):c.567C>A (p.Ser189Arg)
|
|
|
NM_003923.3(FOXH1):c.599G>A (p.Gly200Glu)
|
|
|
NM_003923.3(FOXH1):c.619C>T (p.Pro207Ser)
|
|
|
NM_003923.3(FOXH1):c.680G>A (p.Arg227Lys)
|
|
|
NM_003923.3(FOXH1):c.694A>G (p.Thr232Ala)
|
|
|
NM_003923.3(FOXH1):c.700C>T (p.Gln234Ter)
|
rs1564751909
|
|
NM_003923.3(FOXH1):c.704G>A (p.Gly235Glu)
|
|
|
NM_003923.3(FOXH1):c.746C>T (p.Ala249Val)
|
rs1564751833
|
|
NM_003923.3(FOXH1):c.776C>T (p.Ala259Val)
|
rs1825079949
|
|
NM_003923.3(FOXH1):c.77A>G (p.Lys26Arg)
|
|
|
NM_003923.3(FOXH1):c.785G>T (p.Gly262Val)
|
rs886062752
|
|
NM_003923.3(FOXH1):c.791G>C (p.Arg264Pro)
|
rs775241333
|
|
NM_003923.3(FOXH1):c.794C>A (p.Ser265Tyr)
|
rs769660425
|
|
NM_003923.3(FOXH1):c.856A>C (p.Thr286Pro)
|
|
|
NM_003923.3(FOXH1):c.868G>A (p.Val290Ile)
|
|
|
NM_003923.3(FOXH1):c.878T>G (p.Leu293Trp)
|
rs2130035536
|
|
NM_003923.3(FOXH1):c.923C>T (p.Pro308Leu)
|
|
|
NM_003923.3(FOXH1):c.965G>A (p.Gly322Glu)
|
|
|
NM_003923.3(FOXH1):c.965G>T (p.Gly322Val)
|
rs199639592
|
|
NM_016284.5(CNOT1):c.1603C>T (p.Arg535Cys)
|
rs1567417422
|
|
NM_018055.5(NODAL):c.*125A>C
|
rs1845284740
|
|
NM_018055.5(NODAL):c.*329A>C
|
rs1845280905
|
|
NM_018055.5(NODAL):c.*747dup
|
rs886047099
|
|
NM_018055.5(NODAL):c.*829T>G
|
rs1845269935
|
|
NM_018055.5(NODAL):c.125C>T (p.Ala42Val)
|
rs146471900
|
|
NM_018055.5(NODAL):c.467C>T (p.Thr156Ile)
|
rs1845341646
|
|
NM_018055.5(NODAL):c.702G>A (p.Arg234=)
|
rs755206267
|
|
NM_018055.5(NODAL):c.819C>G (p.Ala273=)
|
rs749265748
|
|
NM_033163.5(FGF8):c.497A>G (p.Asn166Ser)
|
rs778082287
|
|
NM_033163.5(FGF8):c.86_103dup (p.Gly29_Arg34dup)
|
rs762175290
|
|