NM_001363.4(DKC1):c.-142C>G
|
rs199422241
|
0.00229
|
NM_000193.4(SHH):c.869G>A (p.Gly290Asp)
|
rs104894047
|
0.00191
|
NR_003051.3(RMRP):n.71A>G
|
rs199476103
|
0.00156
|
NM_000391.4(TPP1):c.509-1G>C
|
rs56144125
|
0.00053
|
NM_017950.4(CCDC40):c.248del (p.Ala83fs)
|
rs397515393
|
0.00029
|
NM_025114.4(CEP290):c.2991+1655A>G
|
rs281865192
|
0.00029
|
NM_207352.4(CYP4V2):c.130T>A (p.Trp44Arg)
|
rs119103282
|
0.00024
|
NM_004004.6(GJB2):c.-23+1G>A
|
rs80338940
|
0.00017
|
NM_000170.3(GLDC):c.1691G>T (p.Ser564Ile)
|
rs121964974
|
0.00016
|
NM_138477.2(CDAN1):c.2015C>T (p.Pro672Leu)
|
rs120074167
|
0.00013
|
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His)
|
rs587778778
|
0.00011
|
NM_000784.4(CYP27A1):c.379C>T (p.Arg127Trp)
|
rs201114717
|
0.00010
|
NM_000784.4(CYP27A1):c.1184+1G>A
|
rs587778777
|
0.00009
|
NM_207352.4(CYP4V2):c.992A>C (p.His331Pro)
|
rs199476197
|
0.00008
|
NM_181426.2(CCDC39):c.357+1G>C
|
rs397515392
|
0.00007
|
NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter)
|
rs137852888
|
0.00006
|
NM_000193.4(SHH):c.676G>A (p.Ala226Thr)
|
rs104894043
|
0.00006
|
NM_004211.5(SLC6A5):c.1472A>G (p.Tyr491Cys)
|
rs121908494
|
0.00006
|
NM_207352.4(CYP4V2):c.1091-2A>G
|
rs199476183
|
0.00005
|
NM_207352.4(CYP4V2):c.332T>C (p.Ile111Thr)
|
rs119103283
|
0.00005
|
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln)
|
rs587778818
|
0.00004
|
NM_000784.4(CYP27A1):c.845-1G>A
|
rs397515353
|
0.00004
|
NM_004211.5(SLC6A5):c.1131C>A (p.Tyr377Ter)
|
rs121908493
|
0.00004
|
NM_000481.4(AMT):c.878-1G>A
|
rs181134220
|
0.00003
|
NM_000784.4(CYP27A1):c.1263+1G>A
|
rs397515355
|
0.00003
|
NM_000784.4(CYP27A1):c.1421G>A (p.Arg474Gln)
|
rs121908097
|
0.00003
|
NM_000784.4(CYP27A1):c.380G>A (p.Arg127Gln)
|
rs376230356
|
0.00003
|
NM_000824.5(GLRB):c.610+5G>A
|
rs281864922
|
0.00003
|
NM_001042432.2(CLN3):c.883G>A (p.Glu295Lys)
|
rs121434286
|
0.00003
|
NM_001371596.2(MFSD8):c.754+2T>A
|
rs587778809
|
0.00003
|
NM_024312.5(GNPTAB):c.3335+1G>A
|
rs34940801
|
0.00003
|
NM_207352.4(CYP4V2):c.1523G>A (p.Arg508His)
|
rs119103284
|
0.00003
|
NM_000158.4(GBE1):c.671T>C (p.Leu224Pro)
|
rs137852886
|
0.00002
|
NM_178452.6(DNAAF1):c.811C>T (p.Arg271Ter)
|
rs267607225
|
0.00002
|
NM_000096.4(CP):c.2701C>T (p.Arg901Ter)
|
rs386134156
|
0.00001
|
NM_000096.4(CP):c.643C>T (p.Arg215Ter)
|
rs386134155
|
0.00001
|
NM_000158.4(GBE1):c.1643G>A (p.Trp548Ter)
|
rs137852894
|
0.00001
|
NM_000158.4(GBE1):c.1883A>G (p.His628Arg)
|
rs137852891
|
0.00001
|
NM_000158.4(GBE1):c.771T>A (p.Phe257Leu)
|
rs137852887
|
0.00001
|
NM_000193.4(SHH):c.1147G>A (p.Ala383Thr)
|
rs137853341
|
0.00001
|
NM_000784.4(CYP27A1):c.1213C>T (p.Arg405Trp)
|
rs573951598
|
0.00001
|
NM_000784.4(CYP27A1):c.1263+5G>T
|
rs587778784
|
0.00001
|
NM_000784.4(CYP27A1):c.1415G>C (p.Gly472Ala)
|
rs200883871
|
0.00001
|
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp)
|
rs121908098
|
0.00001
|
NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp)
|
rs72551312
|
0.00001
|
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=)
|
rs587778796
|
0.00001
|
NM_000784.4(CYP27A1):c.446+1G>A
|
rs587778797
|
0.00001
|
NM_000784.4(CYP27A1):c.475C>T (p.Gln159Ter)
|
rs72551314
|
0.00001
|
NM_000784.4(CYP27A1):c.646G>C (p.Ala216Pro)
|
rs201346271
|
0.00001
|
NM_000784.4(CYP27A1):c.691C>T (p.Arg231Ter)
|
rs72551315
|
0.00001
|
NM_000784.4(CYP27A1):c.745C>T (p.Gln249Ter)
|
rs72551316
|
0.00001
|
NM_000784.4(CYP27A1):c.776A>G (p.Lys259Arg)
|
rs72551317
|
0.00001
|
NM_005259.3(MSTN):c.373+5G>A
|
rs397515373
|
0.00001
|
NM_020919.4(ALS2):c.1867_1868del (p.Leu623fs)
|
rs386134181
|
0.00001
|
NM_020919.4(ALS2):c.2992C>T (p.Arg998Ter)
|
rs121908137
|
0.00001
|
NM_021926.4(ALX4):c.653G>A (p.Arg218Gln)
|
rs104894193
|
0.00001
|
NM_024312.5(GNPTAB):c.1196C>T (p.Ser399Phe)
|
rs281865026
|
0.00001
|
NM_024312.5(GNPTAB):c.2715+1G>A
|
rs281865031
|
0.00001
|
NM_024312.5(GNPTAB):c.310C>T (p.Gln104Ter)
|
rs137852896
|
0.00001
|
NM_024312.5(GNPTAB):c.3565C>T (p.Arg1189Ter)
|
rs137852897
|
0.00001
|
NM_025137.4(SPG11):c.1492C>T (p.Gln498Ter)
|
rs312262728
|
0.00001
|
NM_207352.4(CYP4V2):c.1348C>T (p.Gln450Ter)
|
rs199476204
|
0.00001
|
NM_207352.4(CYP4V2):c.283G>A (p.Gly95Arg)
|
rs199476187
|
0.00001
|
NC_000008.10:g.(?_6264113)_(6296618_6299587)del
|
|
|
NC_000017.11:g.(?_14440201)_(15475424_?)dup
|
|
|
NC_000017.11:g.3600934_3658165del
|
|
|
NG_008075.1(MPV17):g.16680_18253delinsCCTG
|
|
|
NM_000096.4(CP):c.1282_1286dup (p.Asp430fs)
|
rs386134145
|
|
NM_000096.4(CP):c.2066del (p.Pro689fs)
|
rs386134147
|
|
NM_000096.4(CP):c.2389del (p.Glu797fs)
|
rs386134149
|
|
NM_000096.4(CP):c.2630G>A (p.Trp877Ter)
|
rs121909579
|
|
NM_000096.4(CP):c.3019-1G>A
|
rs386134142
|
|
NM_000096.4(CP):c.606dup (p.Asp203fs)
|
rs386134143
|
|
NM_000096.4(CP):c.650T>C (p.Phe217Ser)
|
rs386134125
|
|
NM_000158.4(GBE1):c.143+1G>A
|
rs397515343
|
|
NM_000168.5(GLI3):c.2770_2771insNC_012920.1:g.12243..12314
|
|
|
NM_000171.4(GLRA1):c.690C>A (p.Tyr230Ter)
|
rs121918415
|
|
NM_000171.4(GLRA1):c.777C>G (p.Ser259Arg)
|
rs121918417
|
|
NM_000171.4(GLRA1):c.815T>A (p.Ile272Asn)
|
rs121918409
|
|
NM_000171.4(GLRA1):c.832C>A (p.Pro278Thr)
|
rs121918413
|
|
NM_000171.4(GLRA1):c.862G>A (p.Val288Met)
|
rs121918416
|
|
NM_000171.4(GLRA1):c.882G>C (p.Gln294His)
|
rs121918411
|
|
NM_000171.4(GLRA1):c.896G>A (p.Arg299Gln)
|
rs121918408
|
|
NM_000171.4(GLRA1):c.896G>T (p.Arg299Leu)
|
rs121918408
|
|
NM_000171.4(GLRA1):c.910A>G (p.Lys304Glu)
|
rs121918412
|
|
NM_000171.4(GLRA1):c.920A>G (p.Tyr307Cys)
|
rs121918410
|
|
NM_000193.4(SHH):c.1132_1140del (p.Ala378_Phe380del)
|
rs397515376
|
|
NM_000193.4(SHH):c.1270C>G (p.Pro424Ala)
|
rs104894048
|
|
NM_000193.4(SHH):c.263A>T (p.Asp88Val)
|
rs104894050
|
|
NM_000193.4(SHH):c.298C>T (p.Gln100Ter)
|
rs104894044
|
|
NM_000193.4(SHH):c.313A>T (p.Lys105Ter)
|
rs104894045
|
|
NM_000193.4(SHH):c.345C>A (p.Asn115Lys)
|
rs267607047
|
|
NM_000193.4(SHH):c.349T>C (p.Trp117Arg)
|
rs104894040
|
|
NM_000193.4(SHH):c.349T>G (p.Trp117Gly)
|
rs104894040
|
|
NM_000193.4(SHH):c.671T>A (p.Val224Glu)
|
rs104894042
|
|
NM_000193.4(SHH):c.766G>T (p.Glu256Ter)
|
rs104894051
|
|
NM_000193.4(SHH):c.788_808del (p.Arg263_Ala269del)
|
rs397515375
|
|
NM_000193.4(SHH):c.850G>T (p.Glu284Ter)
|
rs104894046
|
|
NM_000193.4(SHH):c.91G>A (p.Gly31Arg)
|
rs28936675
|
|
NM_000265.7(NCF1):c.75_76del (p.Tyr26fs)
|
rs4029402
|
|
NM_000426.4(LAMA2):c.7750-1713_7899-2153del
|
|
|
NM_000500.9(CYP21A2):c.293-13C>G
|
rs6467
|
|
NM_000500.9(CYP21A2):c.332_339del (p.Gly111fs)
|
rs387906510
|
|
NM_000500.9(CYP21A2):c.923dup (p.Leu308fs)
|
rs267606756
|
|
NM_000526.5(KRT14):c.356T>C (p.Met119Thr)
|
rs28928893
|
|
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs)
|
rs397507445
|
|
NM_000540.3(RYR1):c.1209C>G (p.Ile403Met)
|
rs118192116
|
|
NM_000540.3(RYR1):c.13910C>T (p.Thr4637Ile)
|
rs118192134
|
|
NM_000540.3(RYR1):c.13952A>C (p.His4651Pro)
|
rs118192139
|
|
NM_000540.3(RYR1):c.14387A>G (p.Tyr4796Cys)
|
rs118192167
|
|
NM_000540.3(RYR1):c.14581C>T (p.Arg4861Cys)
|
rs118192181
|
|
NM_000540.3(RYR1):c.14740A>G (p.Arg4914Gly)
|
rs118192184
|
|
NM_000540.3(RYR1):c.6488G>A (p.Arg2163His)
|
rs118192163
|
|
NM_000540.3(RYR1):c.7354C>T (p.Arg2452Trp)
|
rs118192124
|
|
NM_000540.3(RYR1):c.7358T>C (p.Ile2453Thr)
|
rs118192123
|
|
NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser)
|
rs121908096
|
|
NM_000784.4(CYP27A1):c.1185-1G>T
|
rs587778779
|
|
NM_000784.4(CYP27A1):c.1264-1G>A
|
rs587778785
|
|
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly)
|
rs72551322
|
|
NM_000784.4(CYP27A1):c.1435C>T (p.Arg479Cys)
|
rs72551322
|
|
NM_000784.4(CYP27A1):c.433G>A (p.Gly145Arg)
|
rs587778795
|
|
NM_000784.4(CYP27A1):c.434G>A (p.Gly145Glu)
|
rs72551313
|
|
NM_000784.4(CYP27A1):c.526del (p.Asp176fs)
|
rs765512351
|
|
NM_000784.4(CYP27A1):c.5dup (p.Ala3fs)
|
rs587778802
|
|
NM_000784.4(CYP27A1):c.779G>A (p.Trp260Ter)
|
rs587778810
|
|
NM_000784.4(CYP27A1):c.808C>T (p.Arg270Ter)
|
rs72551318
|
|
NM_000784.4(CYP27A1):c.819del (p.Asp273fs)
|
rs587778812
|
|
NM_000784.4(CYP27A1):c.844+1G>A
|
rs397515354
|
|
NM_000784.4(CYP27A1):c.944_948del (p.Leu315fs)
|
rs397515356
|
|
NM_000824.5(GLRB):c.752G>A (p.Gly251Asp)
|
rs121909749
|
|
NM_001011.4(RPS7):c.147+1G>A
|
rs397507554
|
|
NM_001017420.3(ESCO2):c.955+2_955+5del
|
rs80359858
|
|
NM_001031847.2(CPT1A):c.(?_1744)_2107del (p.Met582Glnfs)
|
|
|
NM_001039958.2(MESP2):c.307G>T (p.Glu103Ter)
|
rs71647808
|
|
NM_001039958.2(MESP2):c.373C>G (p.Leu125Val)
|
rs71647806
|
|
NM_001039958.2(MESP2):c.700G>T (p.Glu234Ter)
|
rs118204035
|
|
NM_001110556.2(FLNA):c.2280+266_2827-25delinsTG
|
|
|
NM_001146040.1(GLRA1):c.(?_-287)_(912+?)del
|
|
|
NM_001164508.2(NEB):c.7431+1919_7536+374del
|
|
|
NM_001256789.3(CACNA1F):c.3133dup (p.Leu1045fs)
|
rs80359870
|
|
NM_001271696.3(ABCB7):c.1231G>C (p.Val411Leu)
|
rs80356713
|
|
NM_001271696.3(ABCB7):c.1297G>A (p.Glu433Lys)
|
rs80356714
|
|
NM_001371596.2(MFSD8):c.881C>A (p.Thr294Lys)
|
rs140948465
|
|
NM_002739.5(PRKCG):c.1081A>G (p.Ser361Gly)
|
rs121918517
|
|
NM_002739.5(PRKCG):c.355T>C (p.Ser119Pro)
|
rs121918512
|
|
NM_002739.5(PRKCG):c.380A>G (p.Gln127Arg)
|
rs121918515
|
|
NM_004211.5(SLC6A5):c.1294delinsTT (p.Val432fs)
|
rs281864924
|
|
NM_004211.5(SLC6A5):c.1526A>G (p.Asn509Ser)
|
rs121908497
|
|
NM_004211.5(SLC6A5):c.1530T>G (p.Ser510Arg)
|
rs281864926
|
|
NM_004211.5(SLC6A5):c.1888C>T (p.Gln630Ter)
|
rs121908495
|
|
NM_004211.5(SLC6A5):c.323del (p.Pro108fs)
|
rs281864923
|
|
NM_004211.5(SLC6A5):c.916C>G (p.Leu306Val)
|
rs121908496
|
|
NM_004937.3(CTNS):c.559_561+24del
|
rs113994211
|
|
NM_005413.4(SIX3):c.676C>G (p.Leu226Val)
|
rs121917878
|
|
NM_005413.4(SIX3):c.749T>C (p.Val250Ala)
|
rs121917880
|
|
NM_005413.4(SIX3):c.770G>C (p.Arg257Pro)
|
rs121917879
|
|
NM_007129.4(ZIC2):c.177_178ins56
|
|
|
NM_007129.5(ZIC2):c.1042_1048del (p.Glu348fs)
|
rs397515365
|
|
NM_007129.5(ZIC2):c.1318dup (p.Leu440fs)
|
rs397515364
|
|
NM_007129.5(ZIC2):c.1366GCN[45] (p.Ala456[15])
|
|
|
NM_015915.5(ATL1):c.1519dup (p.Ile507fs)
|
rs863223314
|
|
NM_015915.5(ATL1):c.470T>G (p.Leu157Trp)
|
rs119476051
|
|
NM_018122.5(DARS2):c.228-21_228-20delinsC
|
rs1553201258
|
|
NM_018249.6(CDK5RAP2):c.4005-15A>G
|
rs387906274
|
|
NM_020919.3(ALS2):c.1472_1481delTTTCCCCCAG
|
rs387906316
|
|
NM_020919.4(ALS2):c.1007_1008del (p.Ile336fs)
|
rs386134175
|
|
NM_020919.4(ALS2):c.138del (p.Ala47fs)
|
rs386134173
|
|
NM_020919.4(ALS2):c.1427_1428del (p.Glu476fs)
|
rs386134176
|
|
NM_020919.4(ALS2):c.2143C>T (p.Gln715Ter)
|
rs121908139
|
|
NM_020919.4(ALS2):c.2537_2538del (p.Asn846fs)
|
rs386134183
|
|
NM_020919.4(ALS2):c.2980-2A>G
|
rs386134184
|
|
NM_020919.4(ALS2):c.3619del (p.Lys1206_Met1207insTer)
|
rs386134187
|
|
NM_020919.4(ALS2):c.470G>A (p.Cys157Tyr)
|
rs121908138
|
|
NM_020919.4(ALS2):c.4721del (p.Val1574fs)
|
rs386134188
|
|
NM_020919.4(ALS2):c.553del (p.Thr185fs)
|
rs386134174
|
|
NM_024312.5(GNPTAB):c.1220A>C (p.Asp407Ala)
|
rs137852895
|
|
NM_024312.5(GNPTAB):c.1581del (p.Cys528fs)
|
rs36007394
|
|
NM_024312.5(GNPTAB):c.1625_1626insC (p.Glu542fs)
|
rs281865027
|
|
NM_024312.5(GNPTAB):c.2574_2575del (p.Asn859fs)
|
rs281865029
|
|
NM_024312.5(GNPTAB):c.3173C>G (p.Ser1058Ter)
|
rs137852898
|
|
NM_024312.5(GNPTAB):c.3474_3475del (p.His1158fs)
|
rs281865038
|
|
NM_024312.5(GNPTAB):c.3503_3504del (p.Leu1168fs)
|
rs34002892
|
|
NM_024312.5(GNPTAB):c.616_619del (p.Thr206fs)
|
rs281865024
|
|
NM_024649.5(BBS1):c.-3_37del (p.Met1fs)
|
rs113994178
|
|
NM_025137.3(SPG11):c.5456_5457del (p.Glu1819Alafs)
|
rs312262764
|
|
NM_025137.4(SPG11):c.1735+3_1735+6del
|
rs312262734
|
|
NM_025137.4(SPG11):c.1837_1838insA (p.Leu613fs)
|
rs312262735
|
|
NM_025137.4(SPG11):c.2472_2473insT (p.Lys825Ter)
|
rs312262744
|
|
NM_025137.4(SPG11):c.4462_4463del (p.Val1488fs)
|
rs587777921
|
|
NM_025137.4(SPG11):c.7000-3_7000-2insAGG
|
rs312262787
|
|
NM_031427.4(DNAL1):c.449A>G (p.Asn150Ser)
|
rs387907021
|
|
NM_032383.5(HPS3):c.0_217+692del
|
|
|
NM_032520.5(GNPTG):c.610-1G>T
|
rs193302854
|
|
NM_033028.5(BBS4):c.157-2A>G
|
rs113994192
|
|
NM_033028.5(BBS4):c.220+1G>C
|
rs113994190
|
|
NM_033380.3(COL4A5):c.4709G>C (p.Cys1570Ser)
|
rs104886287
|
|
NM_138638.5(CFL2):c.103G>A (p.Ala35Thr)
|
rs80358250
|
|
NM_173477.5(USH1G):c.832_851del (p.Ser278fs)
|
rs397515345
|
|
NM_178452.6(DNAAF1):c.524T>G (p.Leu175Arg)
|
rs267607227
|
|
NM_181426.2(CCDC39):c.1072del (p.Thr358fs)
|
rs587778822
|
|
NM_181426.2(CCDC39):c.2190del (p.Glu731fs)
|
rs587778820
|
|
NM_181426.2(CCDC39):c.2357_2359delinsT (p.Ser786fs)
|
rs587778821
|
|
NM_181714.4(LCA5):c.0_-298+211del
|
|
|
NM_207352.4(CYP4V2):c.181G>A (p.Gly61Ser)
|
rs119103285
|
|
NM_207352.4(CYP4V2):c.518T>G (p.Leu173Trp)
|
rs199476190
|
|
NM_207352.4(CYP4V2):c.802-8_810delinsGC
|
rs207482233
|
|
NR_001566.1(TERC):n.107_108delinsAG
|
rs199476393
|
|
NR_001566.1(TERC):n.374_1194del821
|
rs1553915517
|
|
NR_001566.1(TERC):n.408C>G
|
rs199422284
|
|
NR_001566.1(TERC):n.54_57del
|
rs199422263
|
|
TTN:c.106668delA (p.Lys35556Argfs)
|
rs587776772
|
|