NM_017514.5(PLXNA3):c.56G>A (p.Gly19Asp)
|
rs202070666
|
0.00066
|
NM_015419.4(MXRA5):c.1783G>A (p.Val595Met)
|
rs144346765
|
0.00044
|
NM_020765.3(UBR4):c.14237C>T (p.Pro4746Leu)
|
rs143617535
|
0.00041
|
NM_001012728.2(DPRX):c.466C>T (p.Arg156Ter)
|
rs201435914
|
0.00036
|
NM_133178.4(PTPRU):c.3136G>A (p.Val1046Ile)
|
rs201471973
|
0.00032
|
NM_144982.5(ZFC3H1):c.947G>A (p.Arg316His)
|
rs767539150
|
0.00032
|
NM_017908.4(ZNF446):c.1240C>T (p.Arg414Cys)
|
rs201395980
|
0.00031
|
NM_005560.6(LAMA5):c.10322C>T (p.Thr3441Met)
|
rs200093098
|
0.00030
|
NM_020884.7(MYH7B):c.4949C>G (p.Thr1650Arg)
|
rs200207301
|
0.00029
|
NM_024899.4(CEP76):c.985G>A (p.Ala329Thr)
|
rs146808596
|
0.00024
|
NM_004979.6(KCND1):c.1468-8G>T
|
rs376253982
|
0.00022
|
NM_004560.4(ROR2):c.1675G>A (p.Gly559Ser)
|
rs117134265
|
0.00019
|
NM_014856.3(DENND4B):c.2828G>C (p.Trp943Ser)
|
rs201381125
|
0.00017
|
NM_001386125.1(OBSCN):c.21658G>C (p.Ala7220Pro)
|
rs779560573
|
0.00015
|
NM_004560.4(ROR2):c.2117G>A (p.Arg706Gln)
|
rs369717474
|
0.00013
|
NM_001346022.3(USP45):c.1990G>T (p.Gly664Ter)
|
rs141844660
|
0.00012
|
NM_025130.4(HKDC1):c.1009C>T (p.Arg337Trp)
|
rs148723879
|
0.00012
|
NM_004560.4(ROR2):c.1930G>A (p.Asp644Asn)
|
rs55798732
|
0.00011
|
NM_005560.6(LAMA5):c.6301G>A (p.Glu2101Lys)
|
rs370433088
|
0.00010
|
NM_014815.4(MED24):c.2288G>A (p.Arg763Gln)
|
rs760297650
|
0.00010
|
NM_015009.3(PDZRN3):c.1417-10T>C
|
rs778037798
|
0.00010
|
NM_017908.4(ZNF446):c.1028G>A (p.Trp343Ter)
|
rs776780438
|
0.00010
|
NM_017999.5(RNF31):c.2480G>A (p.Arg827His)
|
rs377035972
|
0.00010
|
NM_006841.6(SLC38A3):c.1441C>A (p.Leu481Met)
|
rs587595868
|
0.00009
|
NM_001466.4(FZD2):c.655C>T (p.Arg219Cys)
|
rs375633511
|
0.00007
|
NM_004560.4(ROR2):c.935G>A (p.Arg312His)
|
rs188376581
|
0.00007
|
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter)
|
rs189150283
|
0.00007
|
NM_004560.4(ROR2):c.2212C>T (p.Arg738Cys)
|
rs56231927
|
0.00006
|
NM_005560.6(LAMA5):c.1249A>T (p.Asn417Tyr)
|
rs559408041
|
0.00006
|
NM_005560.6(LAMA5):c.3244C>A (p.Pro1082Thr)
|
rs766464011
|
0.00006
|
NM_005560.6(LAMA5):c.6226G>T (p.Ala2076Ser)
|
rs368328748
|
0.00006
|
NM_020765.3(UBR4):c.7031A>G (p.Asn2344Ser)
|
rs748323629
|
0.00006
|
NM_006307.5(SRPX):c.508C>T (p.Arg170Trp)
|
rs375318852
|
0.00005
|
NM_032410.4(HOOK3):c.1150G>A (p.Glu384Lys)
|
rs747141054
|
0.00005
|
NM_001014447.3(CPZ):c.493C>T (p.Arg165Trp)
|
rs375633720
|
0.00004
|
NM_017514.5(PLXNA3):c.1623G>C (p.Gln541His)
|
rs782515431
|
0.00004
|
NM_001105079.3(FBRS):c.2896C>G (p.Pro966Ala)
|
rs1259852690
|
0.00003
|
NM_001394062.1(MACF1):c.18687G>T (p.Trp6229Cys)
|
rs1201537875
|
0.00003
|
NM_004961.4(GABRE):c.399C>A (p.Tyr133Ter)
|
rs998297769
|
0.00003
|
NM_004979.6(KCND1):c.1774C>T (p.Arg592Trp)
|
rs1230432769
|
0.00003
|
NM_006841.6(SLC38A3):c.686T>C (p.Ile229Thr)
|
rs780109786
|
0.00003
|
NM_020765.3(UBR4):c.13828C>A (p.Pro4610Thr)
|
rs761960636
|
0.00003
|
NM_025191.4(EDEM3):c.2431G>T (p.Asp811Tyr)
|
rs765435034
|
0.00003
|
NM_173628.4(DNAH17):c.3766G>A (p.Gly1256Arg)
|
rs768564744
|
0.00003
|
NM_001247997.2(CLIP1):c.430C>T (p.Arg144Ter)
|
rs984649575
|
0.00002
|
NM_001394062.1(MACF1):c.22433G>A (p.Arg7478His)
|
rs755081350
|
0.00002
|
NM_001394062.1(MACF1):c.3827G>A (p.Arg1276Gln)
|
rs559634261
|
0.00002
|
NM_002862.4(PYGB):c.2047A>G (p.Met683Val)
|
rs201805961
|
0.00002
|
NM_004284.6(CHD1L):c.1929del (p.Arg643fs)
|
rs782144677
|
0.00002
|
NM_005560.6(LAMA5):c.10433G>A (p.Ser3478Asn)
|
rs772483268
|
0.00002
|
NM_005560.6(LAMA5):c.6101A>G (p.Asp2034Gly)
|
rs773956500
|
0.00002
|
NM_025130.4(HKDC1):c.1088C>T (p.Pro363Leu)
|
rs200034765
|
0.00002
|
NM_001142966.3(GREB1L):c.988C>T (p.Arg330Trp)
|
rs377314861
|
0.00001
|
NM_001163321.4(CCDC120):c.1235C>T (p.Pro412Leu)
|
rs911802103
|
0.00001
|
NM_001386125.1(OBSCN):c.7595C>T (p.Ala2532Val)
|
rs1480591236
|
0.00001
|
NM_001386125.1(OBSCN):c.8582C>T (p.Thr2861Met)
|
rs747262678
|
0.00001
|
NM_001394062.1(MACF1):c.17989-11C>T
|
rs758773350
|
0.00001
|
NM_003862.3(FGF18):c.211C>T (p.Arg71Cys)
|
rs1441510334
|
0.00001
|
NM_004362.3(CLGN):c.731A>G (p.Asp244Gly)
|
rs201306926
|
0.00001
|
NM_004560.4(ROR2):c.302C>T (p.Pro101Leu)
|
rs370882834
|
0.00001
|
NM_004560.4(ROR2):c.769G>A (p.Glu257Lys)
|
rs543118807
|
0.00001
|
NM_006307.5(SRPX):c.731G>C (p.Arg244Thr)
|
rs756386867
|
0.00001
|
NM_012244.4(SLC7A8):c.730G>A (p.Ala244Thr)
|
rs752482499
|
0.00001
|
NM_012244.4(SLC7A8):c.851A>G (p.Asn284Ser)
|
rs759951698
|
0.00001
|
NM_014055.4(IFT81):c.1150C>T (p.Arg384Cys)
|
rs143130309
|
0.00001
|
NM_014055.4(IFT81):c.259C>T (p.Arg87Cys)
|
rs761469100
|
0.00001
|
NM_015419.4(MXRA5):c.3691C>T (p.Arg1231Trp)
|
rs750352033
|
0.00001
|
NM_016436.5(PHF20):c.2593G>A (p.Asp865Asn)
|
rs771829423
|
0.00001
|
NM_017908.4(ZNF446):c.853G>T (p.Gly285Cys)
|
rs1266909771
|
0.00001
|
NM_018031.6(WDR6):c.2543G>A (p.Arg848His)
|
rs150300426
|
0.00001
|
NM_020765.3(UBR4):c.10388G>A (p.Arg3463His)
|
rs747867083
|
0.00001
|
NM_020765.3(UBR4):c.4045C>G (p.Arg1349Gly)
|
rs776593168
|
0.00001
|
NM_020765.3(UBR4):c.6325G>A (p.Gly2109Ser)
|
rs144709443
|
0.00001
|
NM_020884.7(MYH7B):c.2986G>A (p.Val996Met)
|
rs1430282035
|
0.00001
|
NM_024899.4(CEP76):c.108A>G (p.Ile36Met)
|
rs773662461
|
0.00001
|
NM_133178.4(PTPRU):c.2531C>T (p.Pro844Leu)
|
rs559788899
|
0.00001
|
NM_133178.4(PTPRU):c.4165A>C (p.Met1389Leu)
|
rs540351799
|
0.00001
|
NM_152718.2(VWCE):c.1633C>T (p.Arg545Ter)
|
rs537353127
|
0.00001
|
NM_173628.4(DNAH17):c.6563G>A (p.Arg2188Gln)
|
rs763505389
|
0.00001
|
NM_173628.4(DNAH17):c.779C>T (p.Ala260Val)
|
rs375060973
|
0.00001
|
46;XY;t(1;15)(p22.3;q15)
|
|
|
GRCh37/hg19 3q27.1-28(chr3:183556940-188083060)
|
|
|
NM_000142.5(FGFR3):c.1618A>C (p.Asn540His)
|
rs1057519049
|
|
NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys)
|
rs28933068
|
|
NM_000142.5(FGFR3):c.833A>G (p.Tyr278Cys)
|
rs121913115
|
|
NM_000875.5(IGF1R):c.3872A>G (p.Glu1291Gly)
|
rs1215292877
|
|
NM_001014447.3(CPZ):c.1321G>T (p.Gly441Trp)
|
rs775707132
|
|
NM_001105079.3(FBRS):c.2137G>A (p.Gly713Ser)
|
rs1567547614
|
|
NM_001105079.3(FBRS):c.2594C>T (p.Pro865Leu)
|
rs751526547
|
|
NM_001142966.3(GREB1L):c.111T>G (p.Phe37Leu)
|
rs1567966432
|
|
NM_001278432.2(N4BP2L2):c.1406dup (p.Asn469fs)
|
rs1158061584
|
|
NM_001312909.2(FAM111A):c.364C>T (p.Gln122Ter)
|
|
|
NM_001330442.2(MTA3):c.635G>A (p.Cys212Tyr)
|
rs1558553140
|
|
NM_001346022.3(USP45):c.1567A>G (p.Ser523Gly)
|
rs1562308994
|
|
NM_001346022.3(USP45):c.178T>G (p.Ser60Ala)
|
rs1562456317
|
|
NM_001346022.3(USP45):c.727G>A (p.Val243Met)
|
rs1562391520
|
|
NM_001369268.1(ACAN):c.2690G>A (p.Gly897Glu)
|
rs1897026077
|
|
NM_001369268.1(ACAN):c.6798_6799delinsTT (p.Glu2267Ter)
|
rs2141613985
|
|
NM_001378902.1(ROS1):c.3073A>G (p.Thr1025Ala)
|
rs770947269
|
|
NM_001378902.1(ROS1):c.4583del (p.Asn1528fs)
|
rs776274768
|
|
NM_001379291.1(BRD4):c.1856G>T (p.Ser619Ile)
|
rs1568383758
|
|
NM_001379291.1(BRD4):c.231_233del (p.His77del)
|
rs1599473950
|
|
NM_001394062.1(MACF1):c.12482A>G (p.Lys4161Arg)
|
rs1557609859
|
|
NM_001466.4(FZD2):c.1403T>G (p.Leu468Arg)
|
rs1568105562
|
|
NM_001704.3(ADGRB3):c.2294T>C (p.Val765Ala)
|
rs1562137453
|
|
NM_001704.3(ADGRB3):c.4298G>A (p.Arg1433Lys)
|
rs1562005199
|
|
NM_001844.5(COL2A1):c.3971T>G (p.Val1324Gly)
|
rs1938610955
|
|
NM_001854.4(COL11A1):c.1889A>T (p.Asp630Val)
|
|
|
NM_002556.3(OSBP):c.1519C>T (p.Arg507Ter)
|
rs1565117343
|
|
NM_002645.4(PIK3C2A):c.1640+1G>T
|
rs1565272952
|
|
NM_002695.5(POLR2E):c.233-2A>G
|
rs1297383239
|
|
NM_002815.4(PSMD11):c.850-3_850del
|
|
|
NM_002941.4(ROBO1):c.1265A>G (p.Asp422Gly)
|
rs2107823148
|
|
NM_003392.7(WNT5A):c.654G>C (p.Met218Ile)
|
|
|
NM_003601.4(SMARCA5):c.940A>C (p.Lys314Gln)
|
rs1560814874
|
|
NM_003995.4(NPR2):c.1710+3A>G
|
rs1828199038
|
|
NM_004362.3(CLGN):c.386C>A (p.Pro129Gln)
|
rs1560743601
|
|
NM_004362.3(CLGN):c.959A>G (p.Lys320Arg)
|
rs1560739587
|
|
NM_004560.4(ROR2):c.2014G>A (p.Asp672Asn)
|
rs55651110
|
|
NM_004560.4(ROR2):c.2236C>T (p.Leu746Phe)
|
rs1836916811
|
|
NM_004560.4(ROR2):c.2625dup (p.Thr876fs)
|
rs1836888405
|
|
NM_004560.4(ROR2):c.553T>C (p.Phe185Leu)
|
rs1825070299
|
|
NM_006231.4(POLE):c.4337_4338dup (p.Val1447fs)
|
rs758487568
|
|
NM_006767.4(LZTR1):c.62G>C (p.Arg21Pro)
|
rs1469540056
|
|
NM_006841.6(SLC38A3):c.1108C>A (p.Arg370Ser)
|
rs1352789248
|
|
NM_006885.4(ZFHX3):c.3757C>T (p.Arg1253Cys)
|
rs769603301
|
|
NM_006885.4(ZFHX3):c.8548G>A (p.Glu2850Lys)
|
rs774848265
|
|
NM_007368.4(RASA3):c.254T>C (p.Val85Ala)
|
rs1566529937
|
|
NM_007368.4(RASA3):c.892_895del (p.Asp298fs)
|
rs746040003
|
|
NM_012274.2(H2AP):c.321_322del (p.Phe107fs)
|
rs1569148952
|
|
NM_013943.3(CLIC4):c.220C>T (p.His74Tyr)
|
rs1557810606
|
|
NM_014815.4(MED24):c.1247C>G (p.Thr416Ser)
|
rs1568162263
|
|
NM_014838.3(ZBED4):c.172C>T (p.Arg58Ter)
|
rs1333906033
|
|
NM_014856.3(DENND4B):c.1825C>T (p.Leu609Phe)
|
rs1557853919
|
|
NM_015009.3(PDZRN3):c.2101A>C (p.Ser701Arg)
|
rs747762087
|
|
NM_015306.3(USP24):c.2491A>G (p.Met831Val)
|
rs1557627382
|
|
NM_015306.3(USP24):c.2747A>T (p.Tyr916Phe)
|
rs1557625169
|
|
NM_015306.3(USP24):c.7448-7C>T
|
rs1557523211
|
|
NM_015311.3(OBSL1):c.690dup (p.Glu231fs)
|
rs1553538488
|
|
NM_015365.3(AMMECR1):c.454del (p.Arg152fs)
|
rs1569405174
|
|
NM_016436.5(PHF20):c.890C>T (p.Pro297Leu)
|
rs1456887132
|
|
NM_017999.5(RNF31):c.2333A>G (p.Tyr778Cys)
|
rs1566615893
|
|
NM_020884.5(MYH7B):c.1272_1273del (p.Ser425Cysfs)
|
rs771172991
|
|
NM_020884.7(MYH7B):c.1579_1581del (p.Ile527del)
|
rs771119776
|
|
NM_020884.7(MYH7B):c.4190+5G>C
|
rs1569062521
|
|
NM_024899.4(CEP76):c.1874G>A (p.Arg625His)
|
rs1363884891
|
|
NM_025130.4(HKDC1):c.301G>T (p.Gly101Trp)
|
rs1564726619
|
|
NM_025191.4(EDEM3):c.1204T>G (p.Leu402Val)
|
rs1558053119
|
|
NM_032410.4(HOOK3):c.225T>G (p.Asn75Lys)
|
rs1563293555
|
|
NM_133450.4(ANKS3):c.1960dup (p.Arg654fs)
|
rs1567280099
|
|
NM_144982.5(ZFC3H1):c.5885T>C (p.Leu1962Pro)
|
rs1565798439
|
|
NM_152695.6(ZNF449):c.394G>A (p.Val132Met)
|
rs1569497334
|
|
NM_152695.6(ZNF449):c.659T>C (p.Leu220Pro)
|
rs1569498095
|
|
NM_175635.3(RUNX1T1):c.66_67insT (p.Pro23fs)
|
rs1563765580
|
|
NM_198510.3(ITIH6):c.1487A>T (p.Asn496Ile)
|
rs1569543903
|
|
NM_198510.3(ITIH6):c.2377C>T (p.Gln793Ter)
|
rs761191483
|
|
NM_201286.4(USP51):c.13C>T (p.Arg5Ter)
|
rs1569197778
|
|
t(1;12)(p36.1;p13.32)dn
|
|
|