NM_198578.4(LRRK2):c.3021= (p.Ser1007=)
|
rs55783828
|
0.99994
|
NM_198578.4(LRRK2):c.364= (p.Leu122=)
|
rs41286468
|
0.99974
|
NM_198578.4(LRRK2):c.825= (p.His275=)
|
rs72546315
|
0.99959
|
NM_198578.4(LRRK2):c.1383= (p.Ser461=)
|
rs35847451
|
0.99953
|
NM_018136.5(ASPM):c.7480T>C (p.Tyr2494His)
|
rs964201
|
0.99668
|
NM_198578.4(LRRK2):c.867= (p.Asn289=)
|
rs17490713
|
0.98818
|
NM_016938.5(EFEMP2):c.775A>G (p.Ile259Val)
|
rs601314
|
0.89787
|
NM_012203.2(GRHPR):c.579A>G (p.Ala193=)
|
rs309458
|
0.85807
|
NM_018249.6(CDK5RAP2):c.865G>C (p.Glu289Gln)
|
rs4836822
|
0.84114
|
NM_000038.6(APC):c.5465T>A (p.Val1822Asp)
|
rs459552
|
0.82099
|
NM_152594.3(SPRED1):c.291G>A (p.Lys97=)
|
rs7182445
|
0.82029
|
NM_152594.3(SPRED1):c.1044T>C (p.Val348=)
|
rs3751526
|
0.81965
|
NM_018136.5(ASPM):c.7566A>G (p.Leu2522=)
|
rs1412640
|
0.80210
|
NM_000787.3(DBH):c.-979T>C
|
rs1611115
|
0.79837
|
NM_015915.5(ATL1):c.351G>A (p.Glu117=)
|
rs1060197
|
0.79691
|
NM_018136.5(ASPM):c.3579T>A (p.Ser1193=)
|
rs4915337
|
0.77164
|
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu)
|
rs5219
|
0.72048
|
NM_018249.6(CDK5RAP2):c.4618G>C (p.Val1540Leu)
|
rs4837768
|
0.70962
|
NM_198578.4(LRRK2):c.4872C>A (p.Gly1624=)
|
rs1427263
|
0.70218
|
NM_000255.4(MMUT):c.1595= (p.Arg532=)
|
rs1141321
|
0.69890
|
NM_024596.5(MCPH1):c.940G>C (p.Asp314His)
|
rs930557
|
0.67053
|
NM_002230.4(JUP):c.2089A>T (p.Met697Leu)
|
rs1126821
|
0.66611
|
NM_172107.4(KCNQ2):c.2339A>C (p.Asn780Thr)
|
rs1801475
|
0.59301
|
NM_000252.3(MTM1):c.1260+3G>A
|
rs222410
|
0.58566
|
NM_001048166.1(STIL):c.257C>T (p.Ala86Val)
|
rs3125630
|
0.58260
|
NM_194248.3(OTOF):c.2736G>C (p.Leu912=)
|
rs4335905
|
0.56927
|
NM_198578.4(LRRK2):c.4911A>G (p.Lys1637=)
|
rs11176013
|
0.56443
|
NM_198578.4(LRRK2):c.5457T>C (p.Gly1819=)
|
rs10878371
|
0.56374
|
NM_004366.6(CLCN2):c.2003C>G (p.Thr668Ser)
|
rs9820367
|
0.55598
|
NM_006517.5(SLC16A2):c.97T>C (p.Ser33Pro)
|
rs6647476
|
0.54054
|
NM_033028.5(BBS4):c.1061T>C (p.Ile354Thr)
|
rs2277598
|
0.52665
|
NM_198578.4(LRRK2):c.457T>C (p.Leu153=)
|
rs10878245
|
0.50692
|
NM_000153.4(GALC):c.1685T>C (p.Ile562Thr)
|
rs398607
|
0.49946
|
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val)
|
rs1805082
|
0.49943
|
NM_000487.6(ARSA):c.1178C>G (p.Thr393Ser)
|
rs743616
|
0.48362
|
NM_207352.4(CYP4V2):c.64C>G (p.Leu22Val)
|
rs1055138
|
0.46276
|
NM_000098.3(CPT2):c.1102G>A (p.Val368Ile)
|
rs1799821
|
0.46024
|
NM_000271.5(NPC1):c.2793C>T (p.Asn931=)
|
rs1140458
|
0.45824
|
NM_024596.5(MCPH1):c.2282C>T (p.Ala761Val)
|
rs1057090
|
0.44044
|
NM_000492.4(CFTR):c.1408= (p.Val470=)
|
rs213950
|
0.43268
|
NM_000375.3(UROS):c.-219C>A
|
rs4385801
|
0.41780
|
NM_000255.4(MMUT):c.636= (p.Lys212=)
|
rs2229384
|
0.41433
|
NM_000255.4(MMUT):c.2011= (p.Ile671=)
|
rs8589
|
0.41022
|
NM_000506.5(F2):c.1726-59G>A
|
rs3136516
|
0.38221
|
NM_198578.4(LRRK2):c.7190= (p.Met2397=)
|
rs3761863
|
0.38176
|
NM_194248.3(OTOF):c.244C>T (p.Arg82Cys)
|
rs13031859
|
0.35740
|
NM_000360.4(TH):c.241G>A (p.Val81Met)
|
rs6356
|
0.31555
|
NM_018136.5(ASPM):c.7939C>A (p.Leu2647Ile)
|
rs3762271
|
0.30411
|
NM_018136.5(ASPM):c.4449A>G (p.Lys1483=)
|
rs2878749
|
0.30404
|
NM_018136.5(ASPM):c.7684A>G (p.Ser2562Gly)
|
rs41310927
|
0.30288
|
NM_018136.5(ASPM):c.5961A>G (p.Gln1987=)
|
rs41310925
|
0.30222
|
NM_000044.6(AR):c.639G>A (p.Glu213=)
|
rs6152
|
0.28599
|
NM_198578.4(LRRK2):c.4939T>A (p.Ser1647Thr)
|
rs11564148
|
0.26687
|
NM_198578.4(LRRK2):c.6324G>A (p.Glu2108=)
|
rs10878405
|
0.26650
|
NM_024596.5(MCPH1):c.2482C>T (p.Pro828Ser)
|
rs1057091
|
0.26146
|
NM_000271.5(NPC1):c.1926= (p.Met642=)
|
rs1788799
|
0.26043
|
NM_000500.9(CYP21A2):c.308G>A (p.Arg103Lys)
|
rs6474
|
0.25928
|
NM_018136.5(ASPM):c.3138G>A (p.Arg1046=)
|
rs6676084
|
0.25582
|
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr)
|
rs1042602
|
0.24593
|
NM_194248.3(OTOF):c.372A>G (p.Thr124=)
|
rs11687696
|
0.23539
|
NM_002775.5(HTRA1):c.102C>T (p.Ala34=)
|
rs1049331
|
0.22934
|
NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser)
|
rs10151259
|
0.21790
|
NM_198253.3(TERT):c.915G>A (p.Ala305=)
|
rs2736098
|
0.21206
|
NM_000017.4(ACADS):c.625G>A (p.Gly209Ser)
|
rs1799958
|
0.20617
|
NM_000430.4(PAFAH1B1):c.*17C>T
|
rs6628
|
0.20094
|
NM_000112.4(SLC26A2):c.2065A>T (p.Thr689Ser)
|
rs3776070
|
0.19906
|
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser)
|
rs2071421
|
0.19530
|
NM_015915.5(ATL1):c.84A>G (p.Pro28=)
|
rs35014209
|
0.18809
|
NM_170784.3(MKKS):c.117C>T (p.Pro39=)
|
rs16991547
|
0.18435
|
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln)
|
rs1126809
|
0.18094
|
NM_152594.3(SPRED1):c.424-98=
|
rs7163339
|
0.17991
|
NM_152594.3(SPRED1):c.424-8=
|
rs7180446
|
0.17985
|
NM_000478.6(ALPL):c.787T>C (p.Tyr263His)
|
rs3200254
|
0.17878
|
NM_000203.5(IDUA):c.1081G>A (p.Ala361Thr)
|
rs6831280
|
0.16782
|
NM_003227.4(TFR2):c.1851C>T (p.Ala617=)
|
rs2075674
|
0.16252
|
NM_018136.5(ASPM):c.7605G>A (p.Val2535=)
|
rs10922162
|
0.16179
|
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met)
|
rs4426527
|
0.15412
|
NM_000098.3(CPT2):c.1939A>G (p.Met647Val)
|
rs1799822
|
0.15237
|
NM_000156.6(GAMT):c.460-31G>A
|
rs55776826
|
0.14411
|
NM_170784.3(MKKS):c.534C>T (p.Ile178=)
|
rs17852625
|
0.14082
|
NM_001953.5(TYMP):c.1284T>A (p.Gly428=)
|
rs1138404
|
0.14075
|
NM_000500.9(CYP21A2):c.806G>C (p.Ser269Thr)
|
rs6472
|
0.13352
|
NM_001365536.1(SCN9A):c.3481= (p.Trp1161=)
|
rs6746030
|
0.12070
|
NM_000153.4(GALC):c.742G>A (p.Asp248Asn)
|
rs34362748
|
0.11424
|
NM_001287.6(CLCN7):c.1252G>A (p.Val418Met)
|
rs12926089
|
0.11417
|
NM_198578.4(LRRK2):c.7155A>G (p.Gly2385=)
|
rs33962975
|
0.11278
|
NM_000255.4(MMUT):c.1495G>A (p.Ala499Thr)
|
rs2229385
|
0.10476
|
NM_000113.3(TOR1A):c.646G>C (p.Asp216His)
|
rs1801968
|
0.10301
|
NM_000271.5(NPC1):c.3797G>A (p.Arg1266Gln)
|
rs1805084
|
0.10225
|
NM_000410.4(HFE):c.187C>G (p.His63Asp)
|
rs1799945
|
0.10170
|
NM_001017420.3(ESCO2):c.239C>T (p.Ala80Val)
|
rs4732748
|
0.10090
|
NM_018451.5(CENPJ):c.2635T>G (p.Ser879Ala)
|
rs17402892
|
0.10073
|
NM_198578.4(LRRK2):c.1653C>G (p.Asn551Lys)
|
rs7308720
|
0.10004
|
NM_001953.5(TYMP):c.1412C>T (p.Ser471Leu)
|
rs11479
|
0.09354
|
NM_001023570.4(IQCB1):c.1178T>A (p.Ile393Asn)
|
rs1141528
|
0.09226
|
NM_198578.4(LRRK2):c.2857T>C (p.Leu953=)
|
rs7966550
|
0.08994
|
NM_198253.3(TERT):c.3039C>T (p.His1013=)
|
rs33954691
|
0.08834
|
NM_033028.5(BBS4):c.1451-45T>C
|
rs75847960
|
0.08550
|
NM_000602.5(SERPINE1):c.43G>A (p.Ala15Thr)
|
rs6092
|
0.07905
|
NM_000478.6(ALPL):c.1565T>C (p.Val522Ala)
|
rs34605986
|
0.07856
|
NM_000492.4(CFTR):c.3870A>G (p.Pro1290=)
|
rs1800130
|
0.07467
|
NM_194248.3(OTOF):c.945G>A (p.Lys315=)
|
rs41288779
|
0.07420
|
NM_000132.4(F8):c.6769A>G (p.Met2257Val)
|
rs1800297
|
0.07378
|
NM_005259.3(MSTN):c.458A>G (p.Lys153Arg)
|
rs1805086
|
0.07270
|
NM_000155.4(GALT):c.940A>G (p.Asn314Asp)
|
rs2070074
|
0.07150
|
NM_000156.6(GAMT):c.626C>T (p.Thr209Met)
|
rs17851582
|
0.07010
|
NM_000784.4(CYP27A1):c.438G>A (p.Pro146=)
|
rs692003
|
0.06494
|
NM_000140.5(FECH):c.315-48T>C
|
rs2272783
|
0.06200
|
NM_198578.4(LRRK2):c.4269G>A (p.Lys1423=)
|
rs11175964
|
0.05959
|
NM_182978.4(GNAL):c.1163-7T>G
|
rs3892113
|
0.05790
|
NM_001876.4(CPT1A):c.823G>A (p.Ala275Thr)
|
rs2229738
|
0.05682
|
NM_004562.3(PRKN):c.500G>A (p.Ser167Asn)
|
rs1801474
|
0.05277
|
NM_000487.6(ARSA):c.*96A>G
|
rs6151429
|
0.05120
|
NM_000130.5(F5):c.3980A>G (p.His1327Arg)
|
rs1800595
|
0.05074
|
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr)
|
rs61747071
|
0.04969
|
NM_018136.5(ASPM):c.7860G>C (p.Gln2620His)
|
rs12138336
|
0.04915
|
NM_000540.3(RYR1):c.6178G>T (p.Gly2060Cys)
|
rs35364374
|
0.04719
|
NM_198578.4(LRRK2):c.2167A>G (p.Ile723Val)
|
rs10878307
|
0.04677
|
NM_194248.3(OTOF):c.5655C>T (p.Arg1885=)
|
rs45442103
|
0.04640
|
NM_000155.4(GALT):c.378-27G>C
|
rs41274865
|
0.04615
|
NM_000155.4(GALT):c.508-24G>A
|
rs41274867
|
0.04612
|
NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala)
|
rs41281314
|
0.04612
|
NM_000155.4(GALT):c.507+62G>A
|
rs2277202
|
0.04610
|
NM_018136.5(ASPM):c.3269C>T (p.Ser1090Phe)
|
rs16841081
|
0.04499
|
NM_032977.4(CASP10):c.1228G>A (p.Val410Ile)
|
rs13010627
|
0.04350
|
NM_000756.2(CRH):c.-669C>A
|
rs12721510
|
0.04273
|
NM_018136.5(ASPM):c.1977T>C (p.Ile659=)
|
rs17550662
|
0.04184
|
NM_005259.3(MSTN):c.163G>A (p.Ala55Thr)
|
rs1805085
|
0.04003
|
NM_003227.4(TFR2):c.714C>G (p.Ile238Met)
|
rs34242818
|
0.03989
|
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)
|
rs1800562
|
0.03880
|
NM_000153.4(GALC):c.550C>T (p.Arg184Cys)
|
rs1805078
|
0.03877
|
NM_194248.3(OTOF):c.4677G>A (p.Val1559=)
|
rs2272071
|
0.03875
|
NM_002529.4(NTRK1):c.1838G>T (p.Gly613Val)
|
rs6339
|
0.03698
|
NM_002529.4(NTRK1):c.1810C>T (p.His604Tyr)
|
rs6336
|
0.03696
|
NM_005609.4(PYGM):c.1494C>T (p.Pro498=)
|
rs11231865
|
0.03592
|
NM_000017.4(ACADS):c.511C>T (p.Arg171Trp)
|
rs1800556
|
0.03280
|
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
NM_000095.3(COMP):c.1156A>G (p.Asn386Asp)
|
rs61739916
|
0.03133
|
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser)
|
rs61735045
|
0.03116
|
NM_198578.4(LRRK2):c.4624C>T (p.Pro1542Ser)
|
rs33958906
|
0.03091
|
NM_198578.3(LRRK2):c.149A>G (p.His50Arg)
|
rs2256408
|
0.03048
|
NM_194248.3(OTOF):c.2022C>T (p.Asp674=)
|
rs13004993
|
0.03023
|
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)
|
rs17580
|
0.02950
|
NM_018249.6(CDK5RAP2):c.3065G>A (p.Gly1022Glu)
|
rs34523498
|
0.02942
|
NM_032977.4(CASP10):c.1337A>G (p.Tyr446Cys)
|
rs17860405
|
0.02926
|
NM_006208.3(ENPP1):c.2320C>T (p.Arg774Cys)
|
rs28933977
|
0.02826
|
NM_001083116.3(PRF1):c.272C>T (p.Ala91Val)
|
rs35947132
|
0.02791
|
NM_194248.3(OTOF):c.158C>T (p.Ala53Val)
|
rs1879761
|
0.02762
|
NM_194248.3(OTOF):c.1926C>T (p.Asn642=)
|
rs72853741
|
0.02727
|
NM_005413.4(SIX3):c.576C>T (p.Arg192=)
|
rs182881
|
0.02708
|
NM_018451.5(CENPJ):c.163C>G (p.Pro55Ala)
|
rs17081389
|
0.02639
|
NM_004562.3(PRKN):c.1180G>A (p.Asp394Asn)
|
rs1801334
|
0.02570
|
NM_000155.4(GALT):c.652C>T (p.Leu218=)
|
rs2070075
|
0.02537
|
NM_198253.3(TERT):c.835G>A (p.Ala279Thr)
|
rs61748181
|
0.02258
|
NM_004519.4(KCNQ3):c.1241A>G (p.Glu414Gly)
|
rs2303995
|
0.02242
|
NM_000096.4(CP):c.1652C>T (p.Thr551Ile)
|
rs61733458
|
0.02154
|
NM_018451.5(CENPJ):c.187G>C (p.Asp63His)
|
rs7336216
|
0.02151
|
NM_000137.4(FAH):c.1021C>T (p.Arg341Trp)
|
rs11555096
|
0.02131
|
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln)
|
rs3743930
|
0.02112
|
NM_005105.5(RBM8A):c.-21G>A
|
rs139428292
|
0.01871
|
NM_016616.4(NME8):c.271-27C>T
|
rs117149381
|
0.01739
|
NR_001566.1(TERC):n.58G>A
|
rs113487931
|
0.01733
|
NM_004366.6(CLCN2):c.2154G>C (p.Glu718Asp)
|
rs2228292
|
0.01679
|
NM_000492.4(CFTR):c.1584G>A (p.Glu528=)
|
rs1800095
|
0.01670
|
NM_005413.4(SIX3):c.90G>T (p.Ala30=)
|
rs78018362
|
0.01666
|
NM_000112.4(SLC26A2):c.1474C>T (p.Arg492Trp)
|
rs78676079
|
0.01642
|
NM_033409.4(SLC52A3):c.1048T>A (p.Leu350Met)
|
rs76947760
|
0.01629
|
NM_004366.6(CLCN2):c.2063G>A (p.Arg688Gln)
|
rs111656822
|
0.01603
|
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser)
|
rs11466023
|
0.01590
|
NM_194248.3(OTOF):c.3189G>A (p.Ala1063=)
|
rs80356573
|
0.01570
|
NM_000334.4(SCN4A):c.968C>T (p.Thr323Met)
|
rs80338952
|
0.01562
|
NM_194248.3(OTOF):c.2317C>T (p.Arg773Cys)
|
rs80356569
|
0.01549
|
NM_194248.3(OTOF):c.4767C>T (p.Arg1589=)
|
rs80356578
|
0.01544
|
NM_194248.3(OTOF):c.3247G>C (p.Ala1083Pro)
|
rs80356574
|
0.01529
|
NM_194248.3(OTOF):c.2464C>T (p.Arg822Trp)
|
rs80356570
|
0.01518
|
NM_194248.3(OTOF):c.5391C>T (p.Phe1797=)
|
rs61747275
|
0.01514
|
NM_006208.3(ENPP1):c.2002G>A (p.Glu668Lys)
|
rs115371819
|
0.01496
|
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu)
|
rs41272687
|
0.01478
|
NM_000098.3(CPT2):c.1055T>G (p.Phe352Cys)
|
rs2229291
|
0.01469
|
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln)
|
rs11466024
|
0.01456
|
NM_006208.3(ENPP1):c.1831C>G (p.Leu611Val)
|
rs79079368
|
0.01455
|
NM_018136.5(ASPM):c.1288A>G (p.Arg430Gly)
|
rs6428388
|
0.01455
|
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile)
|
rs121908120
|
0.01450
|
NM_020247.5(COQ8A):c.993C>T (p.Phe331=)
|
rs41303129
|
0.01390
|
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr)
|
rs35719940
|
0.01370
|
NM_000518.5(HBB):c.20A>T (p.Glu7Val)
|
rs334
|
0.01298
|
NM_024312.5(GNPTAB):c.1042A>C (p.Ile348Leu)
|
rs7958709
|
0.01289
|
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys)
|
rs28929474
|
0.01282
|
NM_198578.4(LRRK2):c.6241A>G (p.Asn2081Asp)
|
rs33995883
|
0.01276
|
NM_000193.4(SHH):c.630C>T (p.Gly210=)
|
rs9333634
|
0.01171
|
NM_033028.5(BBS4):c.*1G>C
|
rs113678046
|
0.01165
|
NM_005670.4(EPM2A):c.163C>A (p.Gln55Lys)
|
rs187930476
|
0.01101
|
NM_018136.5(ASPM):c.2805T>C (p.Ser935=)
|
rs113161395
|
0.01101
|
NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys)
|
rs2230288
|
0.01061
|
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser)
|
rs80358251
|
0.01055
|
NM_198578.4(LRRK2):c.4937T>C (p.Met1646Thr)
|
rs35303786
|
0.01047
|
NM_000410.4(HFE):c.193A>T (p.Ser65Cys)
|
rs1800730
|
0.01042
|
NM_000293.3(PHKB):c.555G>T (p.Met185Ile)
|
rs56257827
|
0.01025
|
NM_000243.3(MEFV):c.1772T>C (p.Ile591Thr)
|
rs11466045
|
0.01021
|
NM_000334.4(SCN4A):c.2717G>C (p.Ser906Thr)
|
rs41280102
|
0.01003
|
NM_000506.5(F2):c.*97G>A
|
rs1799963
|
0.00979
|
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)
|
rs35887622
|
0.00966
|
NM_000171.4(GLRA1):c.1108G>A (p.Gly370Ser)
|
rs116474260
|
0.00939
|
NM_006517.5(SLC16A2):c.873A>T (p.Pro291=)
|
rs12849161
|
0.00922
|
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr)
|
rs58037052
|
0.00910
|
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile)
|
rs62070884
|
0.00873
|
NM_194248.3(OTOF):c.3470G>A (p.Arg1157Gln)
|
rs56054534
|
0.00860
|
NM_000255.4(MMUT):c.1992G>A (p.Ala664=)
|
rs144146728
|
0.00839
|
NM_000478.6(ALPL):c.455G>A (p.Arg152His)
|
rs149344982
|
0.00814
|
NM_194248.3(OTOF):c.2025G>A (p.Glu675=)
|
rs61746988
|
0.00801
|
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser)
|
rs17107315
|
0.00797
|
NM_194248.3(OTOF):c.1723G>A (p.Val575Met)
|
rs55676840
|
0.00781
|
NM_018249.6(CDK5RAP2):c.1712T>C (p.Leu571Pro)
|
rs41296081
|
0.00774
|
NM_018136.5(ASPM):c.9773A>G (p.His3258Arg)
|
rs7528827
|
0.00754
|
NM_198253.3(TERT):c.2097C>T (p.Ala699=)
|
rs33963617
|
0.00739
|
NM_198578.4(LRRK2):c.3784C>G (p.Pro1262Ala)
|
rs4640000
|
0.00717
|
NM_021814.5(ELOVL5):c.246+3891C>T
|
rs150583340
|
0.00704
|
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser)
|
rs1800307
|
0.00653
|
NM_000121.4(EPOR):c.1460A>G (p.Asn487Ser)
|
rs62638745
|
0.00627
|
NM_198578.4(LRRK2):c.4229C>T (p.Thr1410Met)
|
rs72546327
|
0.00621
|
NM_004366.6(CLCN2):c.143C>G (p.Pro48Arg)
|
rs115661422
|
0.00618
|
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe)
|
rs61749895
|
0.00606
|
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter)
|
rs11571833
|
0.00597
|
NM_001008216.2(GALE):c.770A>G (p.Lys257Arg)
|
rs28940884
|
0.00596
|
NM_004993.6(ATXN3):c.916G>C (p.Gly306Arg)
|
rs12895357
|
0.00572
|
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln)
|
rs1801166
|
0.00570
|
NM_032601.4(MCEE):c.427C>T (p.Arg143Cys)
|
rs138436961
|
0.00566
|
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter)
|
rs55960271
|
0.00561
|
NM_000121.4(EPOR):c.1462C>T (p.Pro488Ser)
|
rs142094773
|
0.00541
|
NM_004366.6(CLCN2):c.203G>A (p.Arg68His)
|
rs61729156
|
0.00541
|
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser)
|
rs6445
|
0.00530
|
NM_005609.4(PYGM):c.645G>A (p.Lys215=)
|
rs116315896
|
0.00530
|
NM_198578.4(LRRK2):c.4541G>A (p.Arg1514Gln)
|
rs35507033
|
0.00526
|
NM_014946.4(SPAST):c.131C>T (p.Ser44Leu)
|
rs121908515
|
0.00521
|
NM_005105.5(RBM8A):c.67+32G>C
|
rs201779890
|
0.00518
|
NM_002693.3(POLG):c.1550G>T (p.Gly517Val)
|
rs61752783
|
0.00516
|
NM_201631.4(TGM5):c.326C>T (p.Thr109Met)
|
rs113463533
|
0.00516
|
NM_172107.4(KCNQ2):c.1689C>T (p.Asp563=)
|
rs35450031
|
0.00509
|
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)
|
rs104895094
|
0.00506
|
NR_001566.1(TERC):n.228G>A
|
rs141686314
|
0.00478
|
NM_014336.5(AIPL1):c.1126C>T (p.Pro376Ser)
|
rs61757484
|
0.00475
|
NM_002863.5(PYGL):c.1900G>C (p.Asp634His)
|
rs35026927
|
0.00435
|
NM_004366.6(CLCN2):c.2173C>T (p.Arg725Trp)
|
rs114702742
|
0.00416
|
NM_000518.4(HBB):c.19G>A (p.Glu7Lys)
|
rs33930165
|
0.00414
|
NM_018249.6(CDK5RAP2):c.4665G>T (p.Gln1555His)
|
rs35909061
|
0.00402
|
NM_001379610.1(SPINK1):c.163C>T (p.Pro55Ser)
|
rs111966833
|
0.00389
|
NM_007272.3(CTRC):c.760C>T (p.Arg254Trp)
|
rs121909293
|
0.00386
|
NM_000152.5(GAA):c.-32-13T>G
|
rs386834236
|
0.00384
|
NM_000304.4(PMP22):c.353C>T (p.Thr118Met)
|
rs104894619
|
0.00378
|
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln)
|
rs41276738
|
0.00377
|
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)
|
rs61755320
|
0.00361
|
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)
|
rs72474224
|
0.00354
|
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)
|
rs534542684
|
0.00347
|
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)
|
rs36053993
|
0.00341
|
NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter)
|
rs7755898
|
0.00339
|
NM_000303.3(PMM2):c.422G>A (p.Arg141His)
|
rs28936415
|
0.00338
|
NM_016038.4(SBDS):c.258+2T>C
|
rs113993993
|
0.00323
|
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro)
|
rs1800546
|
0.00319
|
NM_198253.3(TERT):c.1234C>T (p.His412Tyr)
|
rs34094720
|
0.00316
|
NM_032977.4(CASP10):c.1216A>T (p.Ile406Leu)
|
rs80358239
|
0.00307
|
NM_005215.4(DCC):c.1409G>A (p.Gly470Asp)
|
rs141813053
|
0.00296
|
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys)
|
rs104894825
|
0.00295
|
NM_198578.4(LRRK2):c.5163A>G (p.Ser1721=)
|
rs79909111
|
0.00293
|
NM_005215.4(DCC):c.2105A>G (p.Asn702Ser)
|
rs35691189
|
0.00284
|
NM_000203.5(IDUA):c.246C>G (p.His82Gln)
|
rs148775298
|
0.00274
|
NM_052845.4(MMAB):c.403G>A (p.Ala135Thr)
|
rs35648932
|
0.00272
|
NM_000203.5(IDUA):c.965T>A (p.Val322Glu)
|
rs76722191
|
0.00271
|
NM_198578.4(LRRK2):c.1000G>A (p.Glu334Lys)
|
rs78501232
|
0.00266
|
NM_015915.5(ATL1):c.621G>A (p.Lys207=)
|
rs35629585
|
0.00263
|
NM_000193.4(SHH):c.570G>A (p.Ser190=)
|
rs9333633
|
0.00262
|
NM_000121.4(EPOR):c.1310G>A (p.Arg437His)
|
rs62638744
|
0.00253
|
NM_201631.4(TGM5):c.337G>T (p.Gly113Cys)
|
rs112292549
|
0.00252
|
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys)
|
rs1800386
|
0.00237
|
NM_213720.3(CHCHD10):c.100C>T (p.Pro34Ser)
|
rs551521196
|
0.00237
|
NM_000193.4(SHH):c.885C>T (p.Ser295=)
|
rs549625672
|
0.00234
|
NM_000153.4(GALC):c.334A>G (p.Thr112Ala)
|
rs147313927
|
0.00229
|
NM_001363.4(DKC1):c.-142C>G
|
rs199422241
|
0.00229
|
NM_003227.4(TFR2):c.1364G>A (p.Arg455Gln)
|
rs41303501
|
0.00218
|
NM_001384732.1(CPLANE1):c.8050G>A (p.Ala2684Thr)
|
rs111294855
|
0.00212
|
NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys)
|
rs28929470
|
0.00211
|
NM_017411.4(SMN2):c.859G>C (p.Gly287Arg)
|
rs121909192
|
0.00208
|
NM_002485.5(NBN):c.643C>T (p.Arg215Trp)
|
rs34767364
|
0.00206
|
NM_004366.6(CLCN2):c.218G>A (p.Arg73His)
|
rs144412275
|
0.00205
|
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His)
|
rs80359890
|
0.00205
|
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys)
|
rs121918007
|
0.00200
|
NM_003977.4(AIP):c.47G>A (p.Arg16His)
|
rs145047094
|
0.00197
|
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)
|
rs75391579
|
0.00192
|
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)
|
rs76763715
|
0.00191
|
NM_000193.4(SHH):c.869G>A (p.Gly290Asp)
|
rs104894047
|
0.00191
|
NM_000032.5(ALAS2):c.1757A>T (p.Tyr586Phe)
|
rs139596860
|
0.00189
|
NM_003227.4(TFR2):c.1770C>T (p.Asp590=)
|
rs35704760
|
0.00188
|
NM_019098.5(CNGB3):c.1148del (p.Thr383fs)
|
rs397515360
|
0.00183
|
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter)
|
rs116987552
|
0.00181
|
NM_021625.5(TRPV4):c.649G>T (p.Ala217Ser)
|
rs187864727
|
0.00172
|
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)
|
rs34612342
|
0.00168
|
NM_000203.5(IDUA):c.667G>A (p.Asp223Asn)
|
rs183347428
|
0.00166
|
NM_000096.4(CP):c.2684G>C (p.Gly895Ala)
|
rs139633388
|
0.00162
|
NM_000532.5(PCCB):c.1490C>T (p.Ala497Val)
|
rs142403318
|
0.00162
|
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala)
|
rs145588689
|
0.00162
|
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)
|
rs113994096
|
0.00160
|
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)
|
rs113994094
|
0.00159
|
NM_001002294.3(FMO3):c.1079T>C (p.Leu360Pro)
|
rs28363581
|
0.00158
|
NM_004366.6(CLCN2):c.1937G>A (p.Arg646Gln)
|
rs115961753
|
0.00156
|
NM_007055.4(POLR3A):c.1909+22G>A
|
rs191875469
|
0.00156
|
NM_138413.4(HOGA1):c.700+5G>T
|
rs185803104
|
0.00156
|
NR_003051.3(RMRP):n.71A>G
|
rs199476103
|
0.00156
|
NM_000204.5(CFI):c.782G>A (p.Gly261Asp)
|
rs112534524
|
0.00153
|
NM_001002294.3(FMO3):c.458C>T (p.Pro153Leu)
|
rs72549326
|
0.00149
|
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys)
|
rs104894299
|
0.00149
|
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)
|
rs28940579
|
0.00147
|
NM_032409.3(PINK1):c.1231G>A (p.Gly411Ser)
|
rs45478900
|
0.00146
|
NM_198578.4(LRRK2):c.225G>A (p.Ala75=)
|
rs75054132
|
0.00146
|
NM_001375808.2(LPIN2):c.991G>T (p.Ala331Ser)
|
rs80338805
|
0.00142
|
NM_198578.4(LRRK2):c.356T>C (p.Leu119Pro)
|
rs33995463
|
0.00140
|
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)
|
rs80338902
|
0.00137
|
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu)
|
rs74315294
|
0.00134
|
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys)
|
rs150343959
|
0.00133
|
NM_153704.6(TMEM67):c.2241G>A (p.Gln747=)
|
rs115563233
|
0.00128
|
NM_194248.3(OTOF):c.2381G>A (p.Arg794His)
|
rs80356592
|
0.00122
|
NM_000260.4(MYO7A):c.4805G>A (p.Arg1602Gln)
|
rs139889944
|
0.00121
|
NM_001008216.2(GALE):c.956G>A (p.Gly319Glu)
|
rs28940885
|
0.00121
|
NM_007055.4(POLR3A):c.-35C>G
|
rs201700756
|
0.00121
|
NM_198578.4(LRRK2):c.3333G>T (p.Gln1111His)
|
rs78365431
|
0.00121
|
NM_004366.6(CLCN2):c.1930C>T (p.Arg644Cys)
|
rs148545588
|
0.00119
|
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn)
|
rs6475
|
0.00117
|
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr)
|
rs121908287
|
0.00117
|
NM_198578.4(LRRK2):c.2022A>C (p.Val674=)
|
rs72546319
|
0.00117
|
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala)
|
rs113994167
|
0.00116
|
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys)
|
rs1801155
|
0.00116
|
NM_003977.4(AIP):c.911G>A (p.Arg304Gln)
|
rs104894190
|
0.00115
|
NM_001242896.3(DEPDC5):c.3265-3C>T
|
rs371377906
|
0.00108
|
NM_004366.6(CLCN2):c.704G>A (p.Arg235Gln)
|
rs71318369
|
0.00108
|
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp)
|
rs104893915
|
0.00106
|
NM_000787.4(DBH):c.339+2T>C
|
rs74853476
|
0.00106
|
NM_005413.4(SIX3):c.219C>T (p.Pro73=)
|
rs186163123
|
0.00105
|
NM_006412.4(AGPAT2):c.646A>T (p.Lys216Ter)
|
rs138994150
|
0.00103
|
NM_198578.4(LRRK2):c.6510C>A (p.Gly2170=)
|
rs34869625
|
0.00101
|
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln)
|
rs76151636
|
0.00100
|
NM_001083116.3(PRF1):c.50del (p.Leu17fs)
|
rs147035858
|
0.00100
|
NM_203290.4(POLR1C):c.193A>G (p.Met65Val)
|
rs141471029
|
0.00100
|
NM_213599.3(ANO5):c.692G>T (p.Gly231Val)
|
rs137854523
|
0.00098
|
NM_194248.3(OTOF):c.3966C>G (p.Asp1322Glu)
|
rs80356576
|
0.00096
|
NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp)
|
rs140319117
|
0.00095
|
NM_000155.4(GALT):c.404C>T (p.Ser135Leu)
|
rs111033690
|
0.00094
|
NM_000193.4(SHH):c.876G>A (p.Gly292=)
|
rs112055654
|
0.00093
|
NM_000506.5(F2):c.*96C>T
|
rs72550707
|
0.00093
|
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)
|
rs398124292
|
0.00093
|
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe)
|
rs374550999
|
0.00093
|
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp)
|
rs5030858
|
0.00092
|
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)
|
rs113994152
|
0.00092
|
NM_000518.5(HBB):c.-79A>G
|
rs34598529
|
0.00091
|
NM_000553.6(WRN):c.2500C>T (p.Arg834Cys)
|
rs3087425
|
0.00089
|
NM_153704.6(TMEM67):c.958A>T (p.Ser320Cys)
|
rs111619594
|
0.00089
|
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys)
|
rs150726175
|
0.00087
|
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter)
|
rs121908119
|
0.00087
|
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter)
|
rs121965019
|
0.00086
|
NM_198578.4(LRRK2):c.2378G>T (p.Arg793Met)
|
rs35173587
|
0.00085
|
NM_000071.3(CBS):c.833T>C (p.Ile278Thr)
|
rs5742905
|
0.00083
|
NM_194318.4(B3GLCT):c.660+1G>A
|
rs80338851
|
0.00083
|
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)
|
rs113994097
|
0.00081
|
NM_004366.6(CLCN2):c.2240G>A (p.Arg747His)
|
rs144164281
|
0.00081
|
NM_001099274.3(TINF2):c.706C>T (p.Pro236Ser)
|
rs199422321
|
0.00077
|
NM_001099287.2(NIPAL4):c.341C>A (p.Ala114Asp)
|
rs199422217
|
0.00077
|
NM_000235.4(LIPA):c.894G>A (p.Gln298=)
|
rs116928232
|
0.00075
|
NM_001009994.3(RIPPLY2):c.240-4T>G
|
rs370933531
|
0.00074
|
NM_000251.3(MSH2):c.942+3A>T
|
rs193922376
|
0.00072
|
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter)
|
rs11555217
|
0.00072
|
NM_000083.3(CLCN1):c.2926C>T (p.Arg976Ter)
|
rs142539932
|
0.00070
|
NM_170784.3(MKKS):c.-74G>A
|
rs113994194
|
0.00070
|
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr)
|
rs199504211
|
0.00069
|
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)
|
rs113994095
|
0.00068
|
NM_002764.4(PRPS1):c.447G>A (p.Pro149=)
|
rs80338730
|
0.00068
|
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg)
|
rs121908529
|
0.00067
|
NM_007272.3(CTRC):c.217G>A (p.Ala73Thr)
|
rs515726209
|
0.00067
|
NM_014336.5(AIPL1):c.905G>T (p.Arg302Leu)
|
rs62637015
|
0.00067
|
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter)
|
rs80338933
|
0.00067
|
NM_003227.4(TFR2):c.1403G>A (p.Arg468His)
|
rs80338885
|
0.00066
|
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)
|
rs80338945
|
0.00066
|
NM_003977.4(AIP):c.896C>T (p.Ala299Val)
|
rs148986773
|
0.00065
|
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter)
|
rs121907943
|
0.00063
|
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter)
|
rs121965020
|
0.00063
|
NM_014946.4(SPAST):c.134C>A (p.Pro45Gln)
|
rs121908517
|
0.00063
|
NM_018368.4(LMBRD1):c.1056del (p.Asn353fs)
|
rs749272546
|
0.00062
|
NM_000310.4(PPT1):c.364A>T (p.Arg122Trp)
|
rs137852695
|
0.00061
|
NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser)
|
rs386834233
|
0.00061
|
NM_198578.4(LRRK2):c.5606T>C (p.Met1869Thr)
|
rs35602796
|
0.00060
|
NM_001099274.3(TINF2):c.841G>A (p.Glu281Lys)
|
rs199422322
|
0.00058
|
NM_004004.6(GJB2):c.167del (p.Leu56fs)
|
rs80338942
|
0.00058
|
NM_198578.4(LRRK2):c.7153G>A (p.Gly2385Arg)
|
rs34778348
|
0.00058
|
NM_004366.6(CLCN2):c.1795G>A (p.Asp599Asn)
|
rs141242566
|
0.00056
|
NM_024529.5(CDC73):c.-11G>A
|
rs80356643
|
0.00056
|
NM_000017.4(ACADS):c.319C>T (p.Arg107Cys)
|
rs61732144
|
0.00055
|
NM_000112.4(SLC26A2):c.-26+2T>C
|
rs386833492
|
0.00055
|
NM_000500.9(CYP21A2):c.92C>T (p.Pro31Leu)
|
rs9378251
|
0.00055
|
NM_003977.4(AIP):c.807C>T (p.Phe269=)
|
rs139407567
|
0.00055
|
NM_198578.4(LRRK2):c.6566A>G (p.Tyr2189Cys)
|
rs35658131
|
0.00055
|
NM_206933.4(USH2A):c.2299del (p.Glu767fs)
|
rs80338903
|
0.00055
|
NM_000391.4(TPP1):c.509-1G>C
|
rs56144125
|
0.00053
|
NM_020436.5(SALL4):c.541G>A (p.Val181Met)
|
rs139382539
|
0.00052
|
NM_001375808.2(LPIN2):c.1043C>T (p.Pro348Leu)
|
rs34676691
|
0.00051
|
NM_003640.5(ELP1):c.2204+6T>C
|
rs111033171
|
0.00051
|
NM_012144.4(DNAI1):c.48+2dup
|
rs397515363
|
0.00050
|
NM_198578.4(LRRK2):c.4111A>G (p.Ile1371Val)
|
rs17466213
|
0.00050
|
NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter)
|
rs80356682
|
0.00049
|
NM_012434.5(SLC17A5):c.115C>T (p.Arg39Cys)
|
rs80338794
|
0.00049
|
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys)
|
rs137854529
|
0.00049
|
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter)
|
rs1805137
|
0.00048
|
NM_000552.5(VWF):c.3835G>A (p.Val1279Ile)
|
rs61749376
|
0.00048
|
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)
|
rs141138948
|
0.00048
|
NM_080860.4(RSPH1):c.275-2A>C
|
rs151107532
|
0.00048
|
NM_004366.6(CLCN2):c.1730G>A (p.Arg577Gln)
|
rs137852682
|
0.00047
|
NM_000487.6(ARSA):c.465+1G>A
|
rs80338815
|
0.00046
|
NM_001370658.1(BTD):c.1308A>C (p.Gln436His)
|
rs80338685
|
0.00046
|
NM_033409.4(SLC52A3):c.1371C>G (p.Phe457Leu)
|
rs145431028
|
0.00046
|
NM_004366.6(CLCN2):c.1856-3C>T
|
rs371193424
|
0.00044
|
NM_006412.4(AGPAT2):c.589-2A>G
|
rs116807569
|
0.00043
|
NM_032520.5(GNPTG):c.857C>T (p.Thr286Met)
|
rs193302860
|
0.00043
|
NM_001242896.3(DEPDC5):c.3092C>A (p.Pro1031His)
|
rs376744360
|
0.00041
|
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln)
|
rs77563738
|
0.00041
|
NM_006949.4(STXBP2):c.568C>T (p.Arg190Cys)
|
rs370053399
|
0.00041
|
NM_000169.3(GLA):c.352C>T (p.Arg118Cys)
|
rs148158093
|
0.00040
|
NM_000277.3(PAH):c.1315+1G>A
|
rs5030861
|
0.00040
|
NM_000098.3(CPT2):c.680C>T (p.Pro227Leu)
|
rs74315298
|
0.00039
|
NM_000169.3(GLA):c.427G>A (p.Ala143Thr)
|
rs104894845
|
0.00039
|
NM_000199.5(SGSH):c.734G>A (p.Arg245His)
|
rs104894635
|
0.00039
|
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr)
|
rs13073139
|
0.00039
|
NM_018451.5(CENPJ):c.452A>G (p.Glu151Gly)
|
rs34177811
|
0.00039
|
NM_145064.3(STAC3):c.851G>C (p.Trp284Ser)
|
rs140291094
|
0.00039
|
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter)
|
rs137852700
|
0.00038
|
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter)
|
rs62637014
|
0.00038
|
NM_198578.4(LRRK2):c.2481T>C (p.Ser827=)
|
rs76890302
|
0.00038
|
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu)
|
rs28940893
|
0.00037
|
NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg)
|
rs121912775
|
0.00036
|
NM_001040151.2(SCN3B):c.29T>C (p.Leu10Pro)
|
rs121918282
|
0.00036
|
NM_003982.4(SLC7A7):c.895-2A>T
|
rs146582474
|
0.00036
|
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser)
|
rs34637584
|
0.00036
|
NM_000083.3(CLCN1):c.2795C>T (p.Pro932Leu)
|
rs80356706
|
0.00035
|
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro)
|
rs80338848
|
0.00035
|
NM_001002294.3(FMO3):c.913G>T (p.Glu305Ter)
|
rs61753344
|
0.00035
|
NM_022124.6(CDH23):c.3178C>T (p.Arg1060Trp)
|
rs201536811
|
0.00035
|
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys)
|
rs1801175
|
0.00034
|
NM_001099274.3(TINF2):c.734C>A (p.Ser245Tyr)
|
rs142777869
|
0.00034
|
NM_014491.4(FOXP2):c.50A>T (p.Gln17Leu)
|
rs201649896
|
0.00034
|
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala)
|
rs140522266
|
0.00034
|
NM_018122.5(DARS2):c.492+2T>C
|
rs142433332
|
0.00034
|
NM_000380.4(XPA):c.682C>T (p.Arg228Ter)
|
rs104894132
|
0.00033
|
NM_000540.3(RYR1):c.1453A>G (p.Met485Val)
|
rs147723844
|
0.00033
|
NM_000553.6(WRN):c.1105C>T (p.Arg369Ter)
|
rs17847577
|
0.00033
|
NM_001127701.1(SERPINA1):c.1159G>A (p.Glu387Lys)
|
rs121912712
|
0.00033
|
NM_004260.4(RECQL4):c.1573del (p.Cys525fs)
|
rs386833845
|
0.00033
|
NM_000277.3(PAH):c.194T>C (p.Ile65Thr)
|
rs75193786
|
0.00032
|
NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys)
|
rs148812376
|
0.00032
|
NM_018451.5(CENPJ):c.289A>G (p.Thr97Ala)
|
rs41306027
|
0.00032
|
NM_000187.4(HGD):c.1102A>G (p.Met368Val)
|
rs120074173
|
0.00031
|
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys)
|
rs121908096
|
0.00031
|
NM_004519.4(KCNQ3):c.2263G>A (p.Asp755Asn)
|
rs150821246
|
0.00031
|
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu)
|
rs138249161
|
0.00031
|
NM_018297.4(NGLY1):c.1201A>T (p.Arg401Ter)
|
rs201337954
|
0.00031
|
NM_032601.4(MCEE):c.139C>T (p.Arg47Ter)
|
rs111033538
|
0.00031
|
NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp)
|
rs76917243
|
0.00030
|
NM_000492.4(CFTR):c.2988+1G>A
|
rs75096551
|
0.00030
|
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser)
|
rs121908188
|
0.00030
|
NM_033629.6(TREX1):c.341G>A (p.Arg114His)
|
rs72556554
|
0.00030
|
NM_000441.2(SLC26A4):c.1001+1G>A
|
rs80338849
|
0.00029
|
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser)
|
rs74315457
|
0.00029
|
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter)
|
rs113993959
|
0.00029
|
NM_017950.4(CCDC40):c.248del (p.Ala83fs)
|
rs397515393
|
0.00029
|
NM_018136.5(ASPM):c.937A>G (p.Ile313Val)
|
rs12025066
|
0.00029
|
NM_025114.4(CEP290):c.2991+1655A>G
|
rs281865192
|
0.00029
|
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala)
|
rs28940279
|
0.00028
|
NM_000137.4(FAH):c.1062+5G>A
|
rs80338901
|
0.00028
|
NM_000277.3(PAH):c.1066-11G>A
|
rs5030855
|
0.00028
|
NM_001363.5(DKC1):c.838A>C (p.Ser280Arg)
|
rs146700772
|
0.00028
|
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser)
|
rs113994098
|
0.00028
|
NM_018206.6(VPS35):c.151G>A (p.Gly51Ser)
|
rs193077277
|
0.00028
|
NM_021830.5(TWNK):c.1523A>G (p.Tyr508Cys)
|
rs80356540
|
0.00028
|
NM_000100.4(CSTB):c.67-1G>C
|
rs147484110
|
0.00027
|
NM_000113.3(TOR1A):c.361G>A (p.Glu121Lys)
|
rs199535970
|
0.00027
|
NM_000159.4(GCDH):c.1262C>T (p.Ala421Val)
|
rs121434367
|
0.00027
|
NM_000303.3(PMM2):c.722G>C (p.Cys241Ser)
|
rs80338709
|
0.00027
|
NM_000359.3(TGM1):c.877-2A>G
|
rs142634031
|
0.00027
|
NM_001330260.2(SCN8A):c.4748T>C (p.Ile1583Thr)
|
rs201458257
|
0.00027
|
NM_001953.5(TYMP):c.622G>A (p.Val208Met)
|
rs121913039
|
0.00027
|
NM_002055.5(GFAP):c.667G>C (p.Glu223Gln)
|
rs56679084
|
0.00027
|
NM_005609.4(PYGM):c.613G>A (p.Gly205Ser)
|
rs119103251
|
0.00027
|
NM_000151.4(G6PC1):c.1039C>T (p.Gln347Ter)
|
rs80356487
|
0.00026
|
NM_000159.4(GCDH):c.680G>C (p.Arg227Pro)
|
rs121434373
|
0.00026
|
NM_000518.5(HBB):c.118C>T (p.Gln40Ter)
|
rs11549407
|
0.00026
|
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs)
|
rs80356491
|
0.00026
|
NM_000071.3(CBS):c.919G>A (p.Gly307Ser)
|
rs121964962
|
0.00025
|
NM_000096.4(CP):c.2158C>T (p.Arg720Trp)
|
rs145784949
|
0.00025
|
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr)
|
rs80358259
|
0.00025
|
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter)
|
rs119455955
|
0.00025
|
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)
|
rs61750420
|
0.00025
|
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly)
|
rs144078282
|
0.00025
|
NM_004366.6(CLCN2):c.246C>G (p.Phe82Leu)
|
rs140463309
|
0.00025
|
NM_007055.4(POLR3A):c.2381A>C (p.Gln794Pro)
|
rs552353597
|
0.00025
|
NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn)
|
rs199589947
|
0.00025
|
NM_018082.6(POLR3B):c.2817+30T>A
|
rs142517808
|
0.00025
|
NM_018451.5(CENPJ):c.3305A>G (p.Asn1102Ser)
|
rs41300592
|
0.00025
|
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg)
|
rs121908641
|
0.00025
|
NM_194248.3(OTOF):c.5098G>C (p.Glu1700Gln)
|
rs199766465
|
0.00025
|
NM_198578.4(LRRK2):c.1256C>T (p.Ala419Val)
|
rs34594498
|
0.00025
|
NM_198578.4(LRRK2):c.7067C>T (p.Thr2356Ile)
|
rs113511708
|
0.00025
|
NM_001009994.3(RIPPLY2):c.238A>T (p.Arg80Ter)
|
rs201419367
|
0.00024
|
NM_001126121.2(SLC25A19):c.530G>C (p.Gly177Ala)
|
rs119473030
|
0.00024
|
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln)
|
rs121912707
|
0.00024
|
NM_001386393.1(PANK2):c.1231G>A (p.Gly411Arg)
|
rs137852959
|
0.00024
|
NM_006949.4(STXBP2):c.1247-1G>C
|
rs140148806
|
0.00024
|
NM_032387.5(WNK4):c.3553C>T (p.Arg1185Cys)
|
rs137853095
|
0.00024
|
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val)
|
rs137852849
|
0.00024
|
NM_198578.4(LRRK2):c.5467C>A (p.Gln1823Lys)
|
rs72547980
|
0.00024
|
NM_207352.4(CYP4V2):c.130T>A (p.Trp44Arg)
|
rs119103282
|
0.00024
|
NM_001395413.1(POR):c.850G>C (p.Ala284Pro)
|
rs121912974
|
0.00023
|
NM_175875.5(SIX5):c.1655C>T (p.Thr552Met)
|
rs80356464
|
0.00023
|
NM_198578.4(LRRK2):c.2264C>T (p.Pro755Leu)
|
rs34410987
|
0.00023
|
NM_198578.4(LRRK2):c.856C>G (p.Leu286Val)
|
rs200437744
|
0.00023
|
NM_000098.3(CPT2):c.149C>A (p.Pro50His)
|
rs28936375
|
0.00022
|
NM_000277.3(PAH):c.782G>A (p.Arg261Gln)
|
rs5030849
|
0.00022
|
NM_000375.3(UROS):c.217T>C (p.Cys73Arg)
|
rs121908012
|
0.00022
|
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp)
|
rs75527207
|
0.00022
|
NM_001364171.2(ODAD1):c.853G>A (p.Ala285Thr)
|
rs147718607
|
0.00022
|
NM_007375.4(TARDBP):c.269C>T (p.Ala90Val)
|
rs80356715
|
0.00022
|
NM_014585.5(SLC40A1):c.809A>T (p.Asp270Val)
|
rs368420430
|
0.00022
|
NM_145064.3(STAC3):c.862A>T (p.Lys288Ter)
|
rs371720347
|
0.00022
|
NM_198578.4(LRRK2):c.5822G>A (p.Arg1941His)
|
rs77428810
|
0.00022
|
NM_000098.3(CPT2):c.1342T>C (p.Phe448Leu)
|
rs74315297
|
0.00021
|
NM_000130.5(F5):c.1000A>G (p.Arg334Gly)
|
rs118203905
|
0.00021
|
NM_000136.3(FANCC):c.456+4A>T
|
rs104886456
|
0.00021
|
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys)
|
rs104894636
|
0.00021
|
NM_000255.4(MMUT):c.2150G>T (p.Gly717Val)
|
rs121918252
|
0.00021
|
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)
|
rs80358257
|
0.00021
|
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro)
|
rs28939086
|
0.00021
|
NM_000518.5(HBB):c.-138C>T
|
rs33944208
|
0.00021
|
NM_000756.3(CRH):c.-365G>C
|
rs72556399
|
0.00021
|
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs)
|
rs397515540
|
0.00021
|
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)
|
rs80338948
|
0.00021
|
NM_004519.4(KCNQ3):c.2462A>G (p.Asn821Ser)
|
rs118192254
|
0.00021
|
NM_005476.7(GNE):c.1132G>T (p.Asp378Tyr)
|
rs199877522
|
0.00021
|
NM_015896.4(ZMYND10):c.47T>G (p.Val16Gly)
|
rs138815960
|
0.00021
|
NM_198578.4(LRRK2):c.3974G>A (p.Arg1325Gln)
|
rs72546338
|
0.00021
|
NM_199242.3(UNC13D):c.118-308C>T
|
rs959968589
|
0.00021
|
NM_207352.4(CYP4V2):c.367A>G (p.Met123Val)
|
rs149684063
|
0.00021
|
NM_000157.4(GBA1):c.1342G>C (p.Asp448His)
|
rs1064651
|
0.00020
|
NM_001242896.3(DEPDC5):c.1355C>T (p.Ala452Val)
|
rs202226316
|
0.00020
|
NM_014043.4(CHMP2B):c.85A>G (p.Ile29Val)
|
rs63750818
|
0.00020
|
NM_032977.4(CASP10):c.853C>T (p.Leu285Phe)
|
rs17860403
|
0.00020
|
NM_175875.5(SIX5):c.472G>A (p.Ala158Thr)
|
rs80356461
|
0.00020
|
NM_198578.4(LRRK2):c.2769G>C (p.Gln923His)
|
rs58559150
|
0.00020
|
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)
|
rs80359550
|
0.00019
|
NM_000152.5(GAA):c.525del (p.Glu176fs)
|
rs386834235
|
0.00019
|
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp)
|
rs121434369
|
0.00019
|
NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys)
|
rs121913059
|
0.00019
|
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser)
|
rs137853096
|
0.00019
|
NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter)
|
rs77010898
|
0.00019
|
NM_001242896.3(DEPDC5):c.161A>C (p.Gln54Pro)
|
rs201312113
|
0.00019
|
NM_021828.5(HPSE2):c.1465_1466del (p.Asn489fs)
|
rs397515338
|
0.00019
|
NM_198578.4(LRRK2):c.3683G>C (p.Ser1228Thr)
|
rs60185966
|
0.00019
|
NM_000104.4(CYP1B1):c.1159G>A (p.Glu387Lys)
|
rs55989760
|
0.00018
|
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser)
|
rs138577661
|
0.00018
|
NM_000159.4(GCDH):c.1213A>G (p.Met405Val)
|
rs141437721
|
0.00018
|
NM_000441.2(SLC26A4):c.919-2A>G
|
rs111033313
|
0.00018
|
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)
|
rs121434629
|
0.00018
|
NM_001282225.2(ADA2):c.973-2A>G
|
rs139750129
|
0.00018
|
NM_005120.3(MED12):c.4111C>T (p.Pro1371Ser)
|
rs587778437
|
0.00018
|
NM_015141.4(GPD1L):c.247G>A (p.Glu83Lys)
|
rs72552292
|
0.00018
|
NM_198253.3(TERT):c.604G>A (p.Ala202Thr)
|
rs121918661
|
0.00018
|
NM_000104.4(CYP1B1):c.182G>A (p.Gly61Glu)
|
rs28936700
|
0.00017
|
NM_000155.4(GALT):c.855G>T (p.Lys285Asn)
|
rs111033773
|
0.00017
|
NM_000156.6(GAMT):c.327G>A (p.Lys109=)
|
rs80338735
|
0.00017
|
NM_000203.5(IDUA):c.1757C>T (p.Ser586Phe)
|
rs187833337
|
0.00017
|
NM_001242896.3(DEPDC5):c.3241A>C (p.Thr1081Pro)
|
rs142540948
|
0.00017
|
NM_004004.6(GJB2):c.-23+1G>A
|
rs80338940
|
0.00017
|
NM_016035.5(COQ4):c.718C>T (p.Arg240Cys)
|
rs143441644
|
0.00017
|
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter)
|
rs104893851
|
0.00017
|
NM_000030.3(AGXT):c.454T>A (p.Phe152Ile)
|
rs121908524
|
0.00016
|
NM_000070.3(CAPN3):c.1466G>A (p.Arg489Gln)
|
rs147764579
|
0.00016
|
NM_000108.5(DLD):c.685G>T (p.Gly229Cys)
|
rs121964990
|
0.00016
|
NM_000157.4(GBA1):c.882T>G (p.His294Gln)
|
rs367968666
|
0.00016
|
NM_000170.3(GLDC):c.1691G>T (p.Ser564Ile)
|
rs121964974
|
0.00016
|
NM_000187.4(HGD):c.481G>A (p.Gly161Arg)
|
rs28941783
|
0.00016
|
NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly)
|
rs111033244
|
0.00016
|
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys)
|
rs80034486
|
0.00016
|
NM_000532.5(PCCB):c.1606A>G (p.Asn536Asp)
|
rs202247823
|
0.00016
|
NM_001143992.2(WRAP53):c.1192C>T (p.Arg398Trp)
|
rs281865548
|
0.00016
|
NM_001242896.3(DEPDC5):c.3311C>T (p.Ser1104Leu)
|
rs79027628
|
0.00016
|
NM_003283.6(TNNT1):c.538G>T (p.Glu180Ter)
|
rs80358249
|
0.00016
|
NM_005045.4(RELN):c.2015C>T (p.Pro672Leu)
|
rs201044262
|
0.00016
|
NM_020806.5(GPHN):c.28A>T (p.Asn10Tyr)
|
rs121908539
|
0.00016
|
NM_032229.3(SLITRK6):c.1240C>T (p.Gln414Ter)
|
rs587777069
|
0.00016
|
NM_198578.4(LRRK2):c.1561A>G (p.Arg521Gly)
|
rs35328937
|
0.00016
|
NM_198578.4(LRRK2):c.3342A>G (p.Leu1114=)
|
rs35808389
|
0.00016
|
NM_213720.3(CHCHD10):c.239C>T (p.Pro80Leu)
|
rs775332895
|
0.00016
|
NM_000049.4(ASPA):c.212G>A (p.Arg71His)
|
rs104894553
|
0.00015
|
NM_000049.4(ASPA):c.914C>A (p.Ala305Glu)
|
rs28940574
|
0.00015
|
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro)
|
rs138504221
|
0.00015
|
NM_018136.5(ASPM):c.9178C>T (p.Gln3060Ter)
|
rs137852994
|
0.00015
|
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter)
|
rs104894077
|
0.00015
|
NM_000070.3(CAPN3):c.2306G>A (p.Arg769Gln)
|
rs80338802
|
0.00014
|
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser)
|
rs104893924
|
0.00014
|
NM_000113.3(TOR1A):c.613T>A (p.Phe205Ile)
|
rs267607134
|
0.00014
|
NM_000159.4(GCDH):c.1198G>A (p.Val400Met)
|
rs121434372
|
0.00014
|
NM_000159.4(GCDH):c.1240G>A (p.Glu414Lys)
|
rs147611168
|
0.00014
|
NM_000360.4(TH):c.605G>A (p.Arg202His)
|
rs80338892
|
0.00014
|
NM_001242896.3(DEPDC5):c.2591C>T (p.Thr864Met)
|
rs564667614
|
0.00014
|
NM_003227.4(TFR2):c.224C>T (p.Ala75Val)
|
rs41302357
|
0.00014
|
NM_003227.4(TFR2):c.64G>A (p.Val22Ile)
|
rs80338876
|
0.00014
|
NM_024339.5(THOC6):c.569G>A (p.Gly190Glu)
|
rs199795381
|
0.00014
|
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp)
|
rs28941784
|
0.00014
|
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln)
|
rs755922289
|
0.00013
|
NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly)
|
rs148881970
|
0.00013
|
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn)
|
rs137852870
|
0.00013
|
NM_000756.4(CRH):c.89C>G (p.Pro30Arg)
|
rs748404250
|
0.00013
|
NM_004614.5(TK2):c.323C>T (p.Thr108Met)
|
rs137854431
|
0.00013
|
NM_005215.4(DCC):c.2000G>A (p.Arg667His)
|
rs200099519
|
0.00013
|
NM_031448.6(C19orf12):c.154G>C (p.Ala52Pro)
|
rs376103979
|
0.00013
|
NM_138477.2(CDAN1):c.2015C>T (p.Pro672Leu)
|
rs120074167
|
0.00013
|
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr)
|
rs62645748
|
0.00013
|
NM_000112.4(SLC26A2):c.532C>T (p.Arg178Ter)
|
rs104893919
|
0.00012
|
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)
|
rs61752717
|
0.00012
|
NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter)
|
rs74597325
|
0.00012
|
NM_000787.4(DBH):c.1033G>A (p.Asp345Asn)
|
rs267606761
|
0.00012
|
NM_001360.3(DHCR7):c.724C>T (p.Arg242Cys)
|
rs80338856
|
0.00012
|
NM_001379610.1(SPINK1):c.194+2T>C
|
rs148954387
|
0.00012
|
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter)
|
rs111033260
|
0.00012
|
NM_002381.5(MATN3):c.209G>A (p.Arg70His)
|
rs104893640
|
0.00012
|
NM_004092.4(ECHS1):c.518C>T (p.Ala173Val)
|
rs150321966
|
0.00012
|
NM_004562.3(PRKN):c.1096C>T (p.Arg366Trp)
|
rs56092260
|
0.00012
|
NM_006205.3(PDE6H):c.35C>G (p.Ser12Ter)
|
rs200311463
|
0.00012
|
NM_006329.4(FBLN5):c.604G>A (p.Gly202Arg)
|
rs80338765
|
0.00012
|
NM_016222.4(DDX41):c.3G>A (p.Met1Ile)
|
rs141601766
|
0.00012
|
NM_020365.5(EIF2B3):c.260C>T (p.Ala87Val)
|
rs113994022
|
0.00012
|
NM_000157.4(GBA1):c.680A>G (p.Asn227Ser)
|
rs364897
|
0.00011
|
NM_000159.4(GCDH):c.877G>A (p.Ala293Thr)
|
rs121434371
|
0.00011
|
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp)
|
rs104894637
|
0.00011
|
NM_000288.4(PEX7):c.903+1G>C
|
rs148591292
|
0.00011
|
NM_000492.3(CFTR):c.3718-2477C>T
|
rs75039782
|
0.00011
|
NM_000492.4(CFTR):c.489+1G>T
|
rs78756941
|
0.00011
|
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His)
|
rs587778778
|
0.00011
|
NM_001048174.2(MUTYH):c.1034C>T (p.Ala345Val)
|
rs35352891
|
0.00011
|
NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu)
|
rs199422209
|
0.00011
|
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys)
|
rs80338686
|
0.00011
|
NM_001739.2(CA5A):c.555G>A (p.Lys185=)
|
rs147623570
|
0.00011
|
NM_005215.4(DCC):c.527A>G (p.Asn176Ser)
|
rs138724679
|
0.00011
|
NM_005476.7(GNE):c.1892C>T (p.Ala631Val)
|
rs62541771
|
0.00011
|
NM_012472.6(DNAAF11):c.436G>C (p.Asp146His)
|
rs200321595
|
0.00011
|
NM_015141.4(GPD1L):c.839C>T (p.Ala280Val)
|
rs72552291
|
0.00011
|
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter)
|
rs121918242
|
0.00011
|
NM_018082.6(POLR3B):c.2084-6A>G
|
rs747912710
|
0.00011
|
NM_018122.5(DARS2):c.455G>T (p.Cys152Phe)
|
rs121918208
|
0.00011
|
NM_194248.3(OTOF):c.1194T>A (p.Asp398Glu)
|
rs181805996
|
0.00011
|
NM_198253.3(TERT):c.2178G>A (p.Thr726=)
|
rs199422288
|
0.00011
|
NM_198578.4(LRRK2):c.3451G>A (p.Ala1151Thr)
|
rs74985840
|
0.00011
|
NM_198578.4(LRRK2):c.632C>T (p.Ala211Val)
|
rs112794616
|
0.00011
|
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val)
|
rs77718928
|
0.00010
|
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter)
|
rs118204429
|
0.00010
|
NM_000053.4(ATP7B):c.2333G>T (p.Arg778Leu)
|
rs28942074
|
0.00010
|
NM_000137.4(FAH):c.554-1G>T
|
rs80338895
|
0.00010
|
NM_000243.3(MEFV):c.2282G>A (p.Arg761His)
|
rs104895097
|
0.00010
|
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter)
|
rs104894592
|
0.00010
|
NM_000277.3(PAH):c.842C>T (p.Pro281Leu)
|
rs5030851
|
0.00010
|
NM_000370.3(TTPA):c.513_514insTT (p.Thr172fs)
|
rs397515379
|
0.00010
|
NM_000370.3(TTPA):c.575G>A (p.Arg192His)
|
rs121917850
|
0.00010
|
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys)
|
rs201118034
|
0.00010
|
NM_000543.5(SMPD1):c.1493G>T (p.Arg498Leu)
|
rs120074117
|
0.00010
|
NM_000639.3(FASLG):c.466A>G (p.Arg156Gly)
|
rs80358238
|
0.00010
|
NM_000784.4(CYP27A1):c.379C>T (p.Arg127Trp)
|
rs201114717
|
0.00010
|
NM_001282225.2(ADA2):c.139G>A (p.Gly47Arg)
|
rs202134424
|
0.00010
|
NM_001953.5(TYMP):c.665A>G (p.Lys222Arg)
|
rs149977726
|
0.00010
|
NM_003114.5(SPAG1):c.2014C>T (p.Gln672Ter)
|
rs201740530
|
0.00010
|
NM_004937.3(CTNS):c.414G>A (p.Trp138Ter)
|
rs113994205
|
0.00010
|
NM_006208.3(ENPP1):c.913C>A (p.Pro305Thr)
|
rs374270497
|
0.00010
|
NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp)
|
rs121908173
|
0.00010
|
NM_030777.4(SLC2A10):c.691C>T (p.Arg231Trp)
|
rs146579504
|
0.00010
|
NM_080669.6(SLC46A1):c.1127G>A (p.Arg376Gln)
|
rs281875211
|
0.00010
|
NM_153240.5(NPHP3):c.2104C>T (p.Arg702Ter)
|
rs267606916
|
0.00010
|
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro)
|
rs79761867
|
0.00010
|
NM_203290.4(POLR1C):c.572G>A (p.Arg191Gln)
|
rs373046018
|
0.00010
|
NM_207352.4(CYP4V2):c.1198C>T (p.Arg400Cys)
|
rs138444697
|
0.00010
|
NM_000047.3(ARSL):c.410G>C (p.Gly137Ala)
|
rs80338711
|
0.00009
|
NM_000137.4(FAH):c.786G>A (p.Trp262Ter)
|
rs80338899
|
0.00009
|
NM_000153.4(GALC):c.1586C>T (p.Thr529Met)
|
rs200960659
|
0.00009
|
NM_000203.5(IDUA):c.787A>T (p.Arg263Trp)
|
rs201268637
|
0.00009
|
NM_000254.3(MTR):c.3518C>T (p.Pro1173Leu)
|
rs121913578
|
0.00009
|
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp)
|
rs121909011
|
0.00009
|
NM_000518.5(HBB):c.93-21G>A
|
rs35004220
|
0.00009
|
NM_000784.4(CYP27A1):c.1184+1G>A
|
rs587778777
|
0.00009
|
NM_001114134.2(EPB42):c.859C>T (p.Arg287Cys)
|
rs515726212
|
0.00009
|
NM_001358921.2(COQ2):c.533A>G (p.Asn178Ser)
|
rs121918232
|
0.00009
|
NM_001360.3(DHCR7):c.278C>T (p.Thr93Met)
|
rs80338853
|
0.00009
|
NM_001374385.1(ATP8B1):c.1982T>C (p.Ile661Thr)
|
rs121909100
|
0.00009
|
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val)
|
rs202003805
|
0.00009
|
NM_004004.6(GJB2):c.487A>G (p.Met163Val)
|
rs80338949
|
0.00009
|
NM_005094.4(SLC27A4):c.504C>A (p.Cys168Ter)
|
rs137853131
|
0.00009
|
NM_014425.5(INVS):c.2695C>T (p.Arg899Ter)
|
rs200844390
|
0.00009
|
NM_018082.6(POLR3B):c.2944A>G (p.Asn982Asp)
|
rs368213717
|
0.00009
|
NM_018136.5(ASPM):c.9539A>C (p.Gln3180Pro)
|
rs193251130
|
0.00009
|
NM_018206.6(VPS35):c.946C>T (p.Pro316Ser)
|
rs770029606
|
0.00009
|
NM_020533.3(MCOLN1):c.406-2A>G
|
rs104886461
|
0.00009
|
NM_024312.5(GNPTAB):c.1123C>T (p.Arg375Ter)
|
rs397507447
|
0.00009
|
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg)
|
rs201893408
|
0.00009
|
NM_175875.5(SIX5):c.886G>A (p.Ala296Thr)
|
rs80356462
|
0.00009
|
NM_182760.4(SUMF1):c.463T>C (p.Ser155Pro)
|
rs137852850
|
0.00009
|
NM_194248.3(OTOF):c.4227+1G>T
|
rs397515601
|
0.00009
|
NM_194248.3(OTOF):c.4559G>A (p.Arg1520Gln)
|
rs80356601
|
0.00009
|
NM_198253.3(TERT):c.3268G>A (p.Val1090Met)
|
rs121918664
|
0.00009
|
NM_198578.4(LRRK2):c.3960G>T (p.Arg1320Ser)
|
rs77018758
|
0.00009
|
NM_198578.4(LRRK2):c.6428G>A (p.Arg2143His)
|
rs201271001
|
0.00009
|
NM_198586.3(NHLRC1):c.205C>G (p.Pro69Ala)
|
rs28940576
|
0.00009
|
NR_104387.1(TAF1):n.5894C>T
|
rs397509359
|
0.00009
|
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro)
|
rs199801029
|
0.00008
|
NM_000370.3(TTPA):c.358G>A (p.Ala120Thr)
|
rs143010236
|
0.00008
|
NM_000492.4(CFTR):c.1585-1G>A
|
rs76713772
|
0.00008
|
NM_000512.5(GALNS):c.337A>T (p.Ile113Phe)
|
rs118204438
|
0.00008
|
NM_000528.4(MAN2B1):c.1830+1G>C
|
rs80338677
|
0.00008
|
NM_000890.5(KCNJ5):c.1159G>C (p.Gly387Arg)
|
rs199830292
|
0.00008
|
NM_001164277.2(SLC37A4):c.1015G>T (p.Gly339Cys)
|
rs80356490
|
0.00008
|
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His)
|
rs201540674
|
0.00008
|
NM_001363118.2(SLC52A2):c.1016T>C (p.Leu339Pro)
|
rs148234606
|
0.00008
|
NM_004614.5(TK2):c.388C>T (p.Arg130Trp)
|
rs281865493
|
0.00008
|
NM_015340.4(LARS2):c.1358G>A (p.Arg453Gln)
|
rs572177274
|
0.00008
|
NM_172107.4(KCNQ2):c.2613G>T (p.Arg871Ser)
|
rs587780369
|
0.00008
|
NM_198578.4(LRRK2):c.683G>C (p.Cys228Ser)
|
rs56108242
|
0.00008
|
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val)
|
rs111033524
|
0.00008
|
NM_207352.4(CYP4V2):c.992A>C (p.His331Pro)
|
rs199476197
|
0.00008
|
NM_000048.4(ASL):c.1153C>T (p.Arg385Cys)
|
rs28940286
|
0.00007
|
NM_000130.5(F5):c.1001G>C (p.Arg334Thr)
|
rs118203906
|
0.00007
|
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter)
|
rs104886457
|
0.00007
|
NM_000243.3(MEFV):c.1958G>A (p.Arg653His)
|
rs104895085
|
0.00007
|
NM_000277.3(PAH):c.473G>A (p.Arg158Gln)
|
rs5030843
|
0.00007
|
NM_000278.5(PAX2):c.1091G>A (p.Ser364Asn)
|
rs138490772
|
0.00007
|
NM_000500.9(CYP21A2):c.1069C>T (p.Arg357Trp)
|
rs7769409
|
0.00007
|
NM_000518.5(HBB):c.92+6T>C
|
rs35724775
|
0.00007
|
NM_001017420.3(ESCO2):c.1132-7A>G
|
rs80359862
|
0.00007
|
NM_001048166.1(STIL):c.3437C>T (p.Ala1146Val)
|
rs3766317
|
0.00007
|
NM_001282225.2(ADA2):c.1358A>G (p.Tyr453Cys)
|
rs376785840
|
0.00007
|
NM_001360.3(DHCR7):c.1228G>A (p.Gly410Ser)
|
rs80338862
|
0.00007
|
NM_001953.5(TYMP):c.433G>A (p.Gly145Arg)
|
rs121913037
|
0.00007
|
NM_002454.3(MTRR):c.903+469T>C
|
rs893229476
|
0.00007
|
NM_002739.5(PRKCG):c.2075T>G (p.Val692Gly)
|
rs78437096
|
0.00007
|
NM_004519.4(KCNQ3):c.2338C>T (p.Arg780Cys)
|
rs138852641
|
0.00007
|
NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu)
|
rs80338795
|
0.00007
|
NM_014239.4(EIF2B2):c.638A>G (p.Glu213Gly)
|
rs104894425
|
0.00007
|
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln)
|
rs121918243
|
0.00007
|
NM_016222.4(DDX41):c.415_418dup (p.Asp140delinsGlyTer)
|
rs762890562
|
0.00007
|
NM_019032.6(ADAMTSL4):c.2594G>A (p.Arg865His)
|
rs781691587
|
0.00007
|
NM_054012.4(ASS1):c.535T>C (p.Trp179Arg)
|
rs121908646
|
0.00007
|
NM_181426.2(CCDC39):c.357+1G>C
|
rs397515392
|
0.00007
|
NM_198578.4(LRRK2):c.4348G>A (p.Val1450Ile)
|
rs111501952
|
0.00007
|
NM_000030.3(AGXT):c.731T>C (p.Ile244Thr)
|
rs121908525
|
0.00006
|
NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys)
|
rs121918528
|
0.00006
|
NM_000113.3(TOR1A):c.863G>A (p.Arg288Gln)
|
rs727502811
|
0.00006
|
NM_000137.4(FAH):c.1009G>A (p.Gly337Ser)
|
rs80338900
|
0.00006
|
NM_000137.4(FAH):c.782C>T (p.Pro261Leu)
|
rs80338898
|
0.00006
|
NM_000155.4(GALT):c.584T>C (p.Leu195Pro)
|
rs111033728
|
0.00006
|
NM_000157.4(GBA1):c.115+1G>A
|
rs104886460
|
0.00006
|
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys)
|
rs80356771
|
0.00006
|
NM_000157.4(GBA1):c.1604G>A (p.Arg535His)
|
rs75822236
|
0.00006
|
NM_000157.4(GBA1):c.84dup (p.Leu29fs)
|
rs387906315
|
0.00006
|
NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter)
|
rs137852888
|
0.00006
|
NM_000187.4(HGD):c.808G>A (p.Gly270Arg)
|
rs120074174
|
0.00006
|
NM_000193.4(SHH):c.676G>A (p.Ala226Thr)
|
rs104894043
|
0.00006
|
NM_000228.3(LAMB3):c.124C>T (p.Arg42Ter)
|
rs80356680
|
0.00006
|
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile)
|
rs28940578
|
0.00006
|
NM_000255.4(MMUT):c.1106G>A (p.Arg369His)
|
rs564069299
|
0.00006
|
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg)
|
rs80358254
|
0.00006
|
NM_000288.4(PEX7):c.340-10A>G
|
rs267608255
|
0.00006
|
NM_000375.3(UROS):c.673G>A (p.Gly225Ser)
|
rs121908020
|
0.00006
|
NM_000384.3(APOB):c.10579C>T (p.Arg3527Trp)
|
rs144467873
|
0.00006
|
NM_000487.6(ARSA):c.641C>T (p.Ala214Val)
|
rs74315467
|
0.00006
|
NM_000492.4(CFTR):c.254G>A (p.Gly85Glu)
|
rs75961395
|
0.00006
|
NM_000492.4(CFTR):c.2657+5G>A
|
rs80224560
|
0.00006
|
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys)
|
rs118204437
|
0.00006
|
NM_000517.4(HBA2):c.427T>C (p.Ter143Gln)
|
rs41464951
|
0.00006
|
NM_000518.5(HBB):c.75T>A (p.Gly25=)
|
rs33951465
|
0.00006
|
NM_000518.5(HBB):c.79G>A (p.Glu27Lys)
|
rs33950507
|
0.00006
|
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro)
|
rs80338681
|
0.00006
|
NM_000532.5(PCCB):c.1228C>T (p.Arg410Trp)
|
rs121964959
|
0.00006
|
NM_000552.5(VWF):c.4975C>T (p.Arg1659Ter)
|
rs61750595
|
0.00006
|
NM_000642.3(AGL):c.2590C>T (p.Arg864Ter)
|
rs113994130
|
0.00006
|
NM_000642.3(AGL):c.4260-12A>G
|
rs369973784
|
0.00006
|
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter)
|
rs199469707
|
0.00006
|
NM_001110219.3(GJB6):c.119C>T (p.Ala40Val)
|
rs780320724
|
0.00006
|
NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter)
|
rs121918165
|
0.00006
|
NM_001242896.3(DEPDC5):c.842A>T (p.Tyr281Phe)
|
rs200797928
|
0.00006
|
NM_001358921.2(COQ2):c.232A>G (p.Met78Val)
|
rs778094136
|
0.00006
|
NM_001360.3(DHCR7):c.1210C>T (p.Arg404Cys)
|
rs61757582
|
0.00006
|
NM_001363118.2(SLC52A2):c.916G>A (p.Gly306Arg)
|
rs398124641
|
0.00006
|
NM_001374385.1(ATP8B1):c.923G>T (p.Gly308Val)
|
rs111033609
|
0.00006
|
NM_001384732.1(CPLANE1):c.7477C>T (p.Arg2493Ter)
|
rs139675596
|
0.00006
|
NM_001876.4(CPT1A):c.1436C>T (p.Pro479Leu)
|
rs80356779
|
0.00006
|
NM_002437.5(MPV17):c.293C>T (p.Pro98Leu)
|
rs267607258
|
0.00006
|
NM_002617.4(PEX10):c.814_815del (p.Leu272fs)
|
rs61752093
|
0.00006
|
NM_002863.5(PYGL):c.1620+1G>A
|
rs113993981
|
0.00006
|
NM_003227.4(TFR2):c.2374G>A (p.Gly792Arg)
|
rs80338891
|
0.00006
|
NM_003977.4(AIP):c.145G>A (p.Val49Met)
|
rs1063385
|
0.00006
|
NM_004211.5(SLC6A5):c.1274C>T (p.Thr425Met)
|
rs121908498
|
0.00006
|
NM_004211.5(SLC6A5):c.1472A>G (p.Tyr491Cys)
|
rs121908494
|
0.00006
|
NM_006261.5(PROP1):c.150del (p.Arg53fs)
|
rs587776683
|
0.00006
|
NM_007348.4(ATF6):c.970C>T (p.Arg324Cys)
|
rs761357250
|
0.00006
|
NM_014251.3(SLC25A13):c.1813C>T (p.Arg605Ter)
|
rs80338729
|
0.00006
|
NM_014252.4(SLC25A15):c.823C>T (p.Arg275Ter)
|
rs202247807
|
0.00006
|
NM_017671.5(FERMT1):c.811C>T (p.Arg271Ter)
|
rs121918293
|
0.00006
|
NM_018206.6(VPS35):c.2320C>A (p.Leu774Met)
|
rs192419029
|
0.00006
|
NM_018418.5(SPATA7):c.322C>T (p.Arg108Ter)
|
rs80044281
|
0.00006
|
NM_020247.5(COQ8A):c.1042C>T (p.Arg348Ter)
|
rs771578775
|
0.00006
|
NM_020247.5(COQ8A):c.1645G>A (p.Gly549Ser)
|
rs119468009
|
0.00006
|
NM_024529.5(CDC73):c.1066+8T>C
|
rs80356647
|
0.00006
|
NM_025137.4(SPG11):c.6157G>A (p.Val2053Met)
|
rs149003934
|
0.00006
|
NM_033409.4(SLC52A3):c.62A>G (p.Asn21Ser)
|
rs199588390
|
0.00006
|
NM_080860.4(RSPH1):c.85G>T (p.Glu29Ter)
|
rs138320978
|
0.00006
|
NM_138387.4(G6PC3):c.778G>C (p.Gly260Arg)
|
rs200478425
|
0.00006
|
NM_153704.6(TMEM67):c.755T>C (p.Met252Thr)
|
rs202149403
|
0.00006
|
NM_181882.3(PRX):c.2145T>A (p.Cys715Ter)
|
rs104894707
|
0.00006
|
NM_194318.4(B3GLCT):c.347+5G>A
|
rs80338850
|
0.00006
|
NM_198253.3(TERT):c.2177C>T (p.Thr726Met)
|
rs149566858
|
0.00006
|
NM_198578.4(LRRK2):c.4323C>T (p.Arg1441=)
|
rs112998035
|
0.00006
|
NM_198578.4(LRRK2):c.546A>G (p.Lys182=)
|
rs35517158
|
0.00006
|
NM_203290.4(POLR1C):c.326G>A (p.Arg109His)
|
rs796052127
|
0.00006
|
NM_000030.3(AGXT):c.697C>T (p.Arg233Cys)
|
rs121908526
|
0.00005
|
NM_000143.4(FH):c.1127A>C (p.Gln376Pro)
|
rs200796606
|
0.00005
|
NM_000156.6(GAMT):c.59G>C (p.Trp20Ser)
|
rs80338734
|
0.00005
|
NM_000169.3(GLA):c.640-801G>A
|
rs199473684
|
0.00005
|
NM_000228.3(LAMB3):c.727C>T (p.Gln243Ter)
|
rs80356681
|
0.00005
|
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln)
|
rs111033178
|
0.00005
|
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg)
|
rs121909152
|
0.00005
|
NM_000485.3(APRT):c.400+2dup
|
rs745594160
|
0.00005
|
NM_000518.5(HBB):c.*110T>C
|
rs33978907
|
0.00005
|
NM_000518.5(HBB):c.316-197C>T
|
rs34451549
|
0.00005
|
NM_000518.5(HBB):c.92+1G>A
|
rs33971440
|
0.00005
|
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly)
|
rs367543058
|
0.00005
|
NM_000787.4(DBH):c.301G>A (p.Val101Met)
|
rs267606760
|
0.00005
|
NM_001199107.2(TBC1D24):c.1008del (p.His336fs)
|
rs398122967
|
0.00005
|
NM_001242896.3(DEPDC5):c.3217A>C (p.Ser1073Arg)
|
rs754608531
|
0.00005
|
NM_001288705.3(CSF1R):c.2562T>A (p.Asn854Lys)
|
rs690016565
|
0.00005
|
NM_001360.3(DHCR7):c.976G>T (p.Val326Leu)
|
rs80338859
|
0.00005
|
NM_001395413.1(POR):c.1361G>A (p.Arg454His)
|
rs28931608
|
0.00005
|
NM_001953.5(TYMP):c.866A>C (p.Glu289Ala)
|
rs121913036
|
0.00005
|
NM_002863.5(PYGL):c.280C>T (p.Arg94Ter)
|
rs113993973
|
0.00005
|
NM_003907.3(EIF2B5):c.1015C>T (p.Arg339Trp)
|
rs113994068
|
0.00005
|
NM_004700.4(KCNQ4):c.648C>T (p.Arg216=)
|
rs80358269
|
0.00005
|
NM_004750.5(CRLF1):c.242G>A (p.Arg81His)
|
rs104894670
|
0.00005
|
NM_006261.5(PROP1):c.358C>T (p.Arg120Cys)
|
rs121917839
|
0.00005
|
NM_014252.4(SLC25A15):c.535C>T (p.Arg179Ter)
|
rs104894429
|
0.00005
|
NM_014336.5(AIPL1):c.784G>A (p.Gly262Ser)
|
rs142326926
|
0.00005
|
NM_014425.5(INVS):c.2782C>T (p.Arg928Ter)
|
rs376879175
|
0.00005
|
NM_015713.5(RRM2B):c.846G>C (p.Met282Ile)
|
rs182614164
|
0.00005
|
NM_017671.5(FERMT1):c.910G>T (p.Glu304Ter)
|
rs146180696
|
0.00005
|
NM_024312.5(GNPTAB):c.3335+6T>G
|
rs34788341
|
0.00005
|
NM_025137.4(SPG11):c.733_734del (p.Met245fs)
|
rs312262720
|
0.00005
|
NM_030777.4(SLC2A10):c.313C>T (p.Arg105Cys)
|
rs767864243
|
0.00005
|
NM_032383.5(HPS3):c.1163+1G>A
|
rs201227603
|
0.00005
|
NM_054012.4(ASS1):c.787G>A (p.Val263Met)
|
rs192838388
|
0.00005
|
NM_138477.4(CDAN1):c.3389C>T (p.Pro1130Leu)
|
rs80338699
|
0.00005
|
NM_194248.3(OTOF):c.2887C>T (p.Arg963Ter)
|
rs80356595
|
0.00005
|
NM_198578.4(LRRK2):c.1829T>C (p.Ile610Thr)
|
rs566811888
|
0.00005
|
NM_198578.4(LRRK2):c.6422C>T (p.Thr2141Met)
|
rs111691891
|
0.00005
|
NM_207352.4(CYP4V2):c.1091-2A>G
|
rs199476183
|
0.00005
|
NM_207352.4(CYP4V2):c.332T>C (p.Ile111Thr)
|
rs119103283
|
0.00005
|
NM_207352.4(CYP4V2):c.400G>T (p.Gly134Ter)
|
rs199476189
|
0.00005
|
NM_000021.4(PSEN1):c.236C>T (p.Ala79Val)
|
rs63749824
|
0.00004
|
NM_000030.3(AGXT):c.121G>A (p.Gly41Arg)
|
rs121908523
|
0.00004
|
NM_000030.3(AGXT):c.613T>C (p.Ser205Pro)
|
rs121908520
|
0.00004
|
NM_000051.4(ATM):c.5763-1050A>G
|
rs774925473
|
0.00004
|
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)
|
rs587782652
|
0.00004
|
NM_000098.3(CPT2):c.1646G>A (p.Gly549Asp)
|
rs186044004
|
0.00004
|
NM_000152.5(GAA):c.1935C>A (p.Asp645Glu)
|
rs28940868
|
0.00004
|
NM_000157.4(GBA1):c.887G>A (p.Arg296Gln)
|
rs78973108
|
0.00004
|
NM_000159.4(GCDH):c.1093G>A (p.Glu365Lys)
|
rs121434370
|
0.00004
|
NM_000187.4(HGD):c.16-1G>A
|
rs397515347
|
0.00004
|
NM_000255.4(MMUT):c.1105C>T (p.Arg369Cys)
|
rs772552898
|
0.00004
|
NM_000255.4(MMUT):c.278G>A (p.Arg93His)
|
rs121918251
|
0.00004
|
NM_000255.4(MMUT):c.572C>A (p.Ala191Glu)
|
rs760782399
|
0.00004
|
NM_000263.4(NAGLU):c.1900G>A (p.Glu634Lys)
|
rs147036053
|
0.00004
|
NM_000303.3(PMM2):c.691G>A (p.Val231Met)
|
rs80338707
|
0.00004
|
NM_000370.3(TTPA):c.400C>T (p.Arg134Ter)
|
rs121917851
|
0.00004
|
NM_000404.4(GLB1):c.176G>A (p.Arg59His)
|
rs72555392
|
0.00004
|
NM_000410.4(HFE):c.1006+1G>A
|
rs573745685
|
0.00004
|
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg)
|
rs121908362
|
0.00004
|
NM_000478.6(ALPL):c.979T>C (p.Phe327Leu)
|
rs121918010
|
0.00004
|
NM_000481.4(AMT):c.959G>A (p.Arg320His)
|
rs121964985
|
0.00004
|
NM_000487.6(ARSA):c.257G>A (p.Arg86Gln)
|
rs74315458
|
0.00004
|
NM_000487.6(ARSA):c.293C>T (p.Ser98Phe)
|
rs74315456
|
0.00004
|
NM_000492.4(CFTR):c.1766+1G>A
|
rs121908748
|
0.00004
|
NM_000492.4(CFTR):c.3484C>T (p.Arg1162Ter)
|
rs74767530
|
0.00004
|
NM_000492.4(CFTR):c.579+1G>T
|
rs77188391
|
0.00004
|
NM_000518.5(HBB):c.-137C>A
|
rs33941377
|
0.00004
|
NM_000518.5(HBB):c.-140C>T
|
rs34999973
|
0.00004
|
NM_000535.7(PMS2):c.1A>G (p.Met1Val)
|
rs587779333
|
0.00004
|
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met)
|
rs118192140
|
0.00004
|
NM_000543.5(SMPD1):c.1426C>T (p.Arg476Trp)
|
rs182812968
|
0.00004
|
NM_000543.5(SMPD1):c.911T>C (p.Leu304Pro)
|
rs120074124
|
0.00004
|
NM_000552.5(VWF):c.2446C>T (p.Arg816Trp)
|
rs121964894
|
0.00004
|
NM_000631.5(NCF4):c.314G>A (p.Arg105Gln)
|
rs387906808
|
0.00004
|
NM_000642.3(AGL):c.3965del (p.Val1322fs)
|
rs113994132
|
0.00004
|
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln)
|
rs587778818
|
0.00004
|
NM_000784.4(CYP27A1):c.845-1G>A
|
rs397515353
|
0.00004
|
NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro)
|
rs28931569
|
0.00004
|
NM_001182.5(ALDH7A1):c.834G>A (p.Val278=)
|
rs201948406
|
0.00004
|
NM_001242896.3(DEPDC5):c.1909C>T (p.Arg637Ter)
|
rs780960812
|
0.00004
|
NM_001282225.2(ADA2):c.752C>T (p.Pro251Leu)
|
rs148936893
|
0.00004
|
NM_001360.3(DHCR7):c.725G>A (p.Arg242His)
|
rs80338857
|
0.00004
|
NM_001363118.2(SLC52A2):c.935T>C (p.Leu312Pro)
|
rs754320812
|
0.00004
|
NM_001365536.1(SCN9A):c.601T>G (p.Leu201Val)
|
rs80356465
|
0.00004
|
NM_001384732.1(CPLANE1):c.8872C>T (p.Arg2958Ter)
|
rs141507441
|
0.00004
|
NM_001386140.1(MTTP):c.1619G>A (p.Arg540His)
|
rs199422220
|
0.00004
|
NM_001953.5(TYMP):c.1160-1G>A
|
rs797044455
|
0.00004
|
NM_001953.5(TYMP):c.128A>C (p.Lys43Thr)
|
rs752137335
|
0.00004
|
NM_001953.5(TYMP):c.215-1G>C
|
rs767245071
|
0.00004
|
NM_001953.5(TYMP):c.931G>A (p.Gly311Ser)
|
rs121913040
|
0.00004
|
NM_002381.5(MATN3):c.693G>C (p.Lys231Asn)
|
rs773642745
|
0.00004
|
NM_002775.5(HTRA1):c.904C>T (p.Arg302Ter)
|
rs113993970
|
0.00004
|
NM_003907.3(EIF2B5):c.271A>G (p.Thr91Ala)
|
rs28939717
|
0.00004
|
NM_003977.4(AIP):c.135C>T (p.Asp45=)
|
rs181969066
|
0.00004
|
NM_003977.4(AIP):c.584T>C (p.Val195Ala)
|
rs267606561
|
0.00004
|
NM_004092.4(ECHS1):c.538A>G (p.Thr180Ala)
|
rs557128093
|
0.00004
|
NM_004211.5(SLC6A5):c.1131C>A (p.Tyr377Ter)
|
rs121908493
|
0.00004
|
NM_004304.5(ALK):c.3452C>T (p.Thr1151Met)
|
rs113994091
|
0.00004
|
NM_004366.6(CLCN2):c.1412G>A (p.Arg471His)
|
rs771507094
|
0.00004
|
NM_004937.3(CTNS):c.473T>C (p.Leu158Pro)
|
rs113994206
|
0.00004
|
NM_004937.3(CTNS):c.589G>A (p.Gly197Arg)
|
rs113994207
|
0.00004
|
NM_006949.4(STXBP2):c.194G>A (p.Arg65Gln)
|
rs141717050
|
0.00004
|
NM_007055.4(POLR3A):c.2045G>A (p.Arg682Gln)
|
rs781132110
|
0.00004
|
NM_007055.4(POLR3A):c.3781G>A (p.Glu1261Lys)
|
rs371703979
|
0.00004
|
NM_007272.3(CTRC):c.164G>A (p.Trp55Ter)
|
rs121909294
|
0.00004
|
NM_007375.4(TARDBP):c.*83T>C
|
rs80356744
|
0.00004
|
NM_014297.5(ETHE1):c.487C>T (p.Arg163Trp)
|
rs28940289
|
0.00004
|
NM_016103.4(SAR1B):c.409G>A (p.Asp137Asn)
|
rs28942109
|
0.00004
|
NM_017671.5(FERMT1):c.328C>T (p.Arg110Ter)
|
rs765716291
|
0.00004
|
NM_018082.6(POLR3B):c.2303G>A (p.Arg768His)
|
rs267608687
|
0.00004
|
NM_018082.6(POLR3B):c.3008A>G (p.Tyr1003Cys)
|
rs368953286
|
0.00004
|
NM_018136.5(ASPM):c.3811C>T (p.Arg1271Ter)
|
rs140602858
|
0.00004
|
NM_018136.5(ASPM):c.9190C>T (p.Arg3064Ter)
|
rs199422185
|
0.00004
|
NM_018965.4(TREM2):c.197C>T (p.Thr66Met)
|
rs201258663
|
0.00004
|
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe)
|
rs104894080
|
0.00004
|
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys)
|
rs145034527
|
0.00004
|
NM_020533.3(MCOLN1):c.1084G>T (p.Asp362Tyr)
|
rs121908372
|
0.00004
|
NM_023036.6(DNAI2):c.787C>T (p.Arg263Ter)
|
rs137852998
|
0.00004
|
NM_024580.6(EFL1):c.3284G>A (p.Arg1095Gln)
|
rs376095522
|
0.00004
|
NM_024876.4(COQ8B):c.532C>T (p.Arg178Trp)
|
rs398122978
|
0.00004
|
NM_025137.4(SPG11):c.3664_3665insT (p.Lys1222fs)
|
rs312262755
|
0.00004
|
NM_030777.4(SLC2A10):c.1276G>T (p.Gly426Trp)
|
rs121908172
|
0.00004
|
NM_032409.3(PINK1):c.1366C>T (p.Gln456Ter)
|
rs45539432
|
0.00004
|
NM_032520.5(GNPTG):c.610-2A>G
|
rs193302855
|
0.00004
|
NM_052845.4(MMAB):c.571C>T (p.Arg191Trp)
|
rs376128990
|
0.00004
|
NM_052845.4(MMAB):c.656A>G (p.Tyr219Cys)
|
rs765547005
|
0.00004
|
NM_052845.4(MMAB):c.700C>T (p.Gln234Ter)
|
rs369296618
|
0.00004
|
NM_052989.3(IFT122):c.349+5G>A
|
rs376595844
|
0.00004
|
NM_138387.4(G6PC3):c.130C>T (p.Pro44Ser)
|
rs775224457
|
0.00004
|
NM_153026.3(PRICKLE1):c.431G>A (p.Arg144His)
|
rs281865563
|
0.00004
|
NM_172107.4(KCNQ2):c.1259C>T (p.Pro420Leu)
|
rs139164500
|
0.00004
|
NM_172107.4(KCNQ2):c.1602G>A (p.Pro534=)
|
rs775089685
|
0.00004
|
NM_172107.4(KCNQ2):c.1887+5G>A
|
rs777916008
|
0.00004
|
NM_177924.5(ASAH1):c.125C>T (p.Thr42Met)
|
rs145873635
|
0.00004
|
NM_194248.3(OTOF):c.2485C>T (p.Gln829Ter)
|
rs80356593
|
0.00004
|
NM_194248.3(OTOF):c.5816G>A (p.Arg1939Gln)
|
rs80356605
|
0.00004
|
NM_198253.3(TERT):c.2110C>T (p.Pro704Ser)
|
rs199422297
|
0.00004
|
NM_198253.3(TERT):c.3329C>T (p.Thr1110Met)
|
rs199422306
|
0.00004
|
NM_198578.4(LRRK2):c.155C>T (p.Ser52Phe)
|
rs72546335
|
0.00004
|
NM_198578.4(LRRK2):c.3018A>G (p.Ile1006Met)
|
rs113217062
|
0.00004
|
NM_198578.4(LRRK2):c.3574A>G (p.Ile1192Val)
|
rs281865047
|
0.00004
|
NM_198578.4(LRRK2):c.4959A>G (p.Leu1653=)
|
rs111503579
|
0.00004
|
NM_198578.4(LRRK2):c.6929C>T (p.Thr2310Met)
|
rs200002022
|
0.00004
|
NM_198586.3(NHLRC1):c.468_469del (p.Gly158fs)
|
rs587776542
|
0.00004
|
NM_207352.4(CYP4V2):c.237G>T (p.Glu79Asp)
|
rs199476185
|
0.00004
|
NM_000047.3(ARSL):c.1743G>A (p.Trp581Ter)
|
rs80338714
|
0.00003
|
NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser)
|
rs774843953
|
0.00003
|
NM_000096.4(CP):c.1049C>A (p.Ala350Asp)
|
rs386134127
|
0.00003
|
NM_000113.3(TOR1A):c.385G>A (p.Val129Ile)
|
rs529094238
|
0.00003
|
NM_000146.4(FTL):c.474G>A (p.Pro158=)
|
rs758414077
|
0.00003
|
NM_000151.4(G6PC1):c.562G>C (p.Gly188Arg)
|
rs80356482
|
0.00003
|
NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser)
|
rs752537626
|
0.00003
|
NM_000157.4(GBA1):c.475C>T (p.Arg159Trp)
|
rs439898
|
0.00003
|
NM_000158.4(GBE1):c.1571G>A (p.Arg524Gln)
|
rs80338673
|
0.00003
|
NM_000187.4(HGD):c.688C>T (p.Pro230Ser)
|
rs28942100
|
0.00003
|
NM_000193.4(SHH):c.708C>A (p.Ser236Arg)
|
rs587778806
|
0.00003
|
NM_000193.4(SHH):c.825G>A (p.Ala275=)
|
rs587778813
|
0.00003
|
NM_000199.5(SGSH):c.1139A>G (p.Gln380Arg)
|
rs144143780
|
0.00003
|
NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg)
|
rs121965021
|
0.00003
|
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter)
|
rs17215500
|
0.00003
|
NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro)
|
rs63750875
|
0.00003
|
NM_000255.4(MMUT):c.1867G>A (p.Gly623Arg)
|
rs121918254
|
0.00003
|
NM_000255.4(MMUT):c.655A>T (p.Asn219Tyr)
|
rs121918256
|
0.00003
|
NM_000255.4(MMUT):c.91C>T (p.Arg31Ter)
|
rs398123278
|
0.00003
|
NM_000282.4(PCCA):c.937C>T (p.Arg313Ter)
|
rs138149179
|
0.00003
|
NM_000285.4(PEPD):c.793C>T (p.Arg265Ter)
|
rs121917725
|
0.00003
|
NM_000288.4(PEX7):c.653C>T (p.Ala218Val)
|
rs121909151
|
0.00003
|
NM_000303.3(PMM2):c.357C>A (p.Phe119Leu)
|
rs80338701
|
0.00003
|
NM_000311.5(PRNP):c.538G>A (p.Val180Ile)
|
rs74315408
|
0.00003
|
NM_000334.4(SCN4A):c.3386G>A (p.Arg1129Gln)
|
rs527236149
|
0.00003
|
NM_000374.5(UROD):c.636+1G>C
|
rs145195562
|
0.00003
|
NM_000400.4(ERCC2):c.2047C>T (p.Arg683Trp)
|
rs41556519
|
0.00003
|
NM_000481.4(AMT):c.878-1G>A
|
rs181134220
|
0.00003
|
NM_000485.3(APRT):c.194A>T (p.Asp65Val)
|
rs104894506
|
0.00003
|
NM_000512.5(GALNS):c.178G>A (p.Asp60Asn)
|
rs118204447
|
0.00003
|
NM_000518.5(HBB):c.-151C>T
|
rs63751208
|
0.00003
|
NM_000518.5(HBB):c.315+1G>A
|
rs33945777
|
0.00003
|
NM_000518.5(HBB):c.316-106C>G
|
rs34690599
|
0.00003
|
NM_000518.5(HBB):c.316-2A>G
|
rs33914668
|
0.00003
|
NM_000540.3(RYR1):c.4729G>A (p.Ala1577Thr)
|
rs118192120
|
0.00003
|
NM_000642.3(AGL):c.16C>T (p.Gln6Ter)
|
rs113994126
|
0.00003
|
NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter)
|
rs387906244
|
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_001002294.3(FMO3):c.182A>G (p.Asn61Ser)
|
rs72549322
|
0.00003
|
NM_001008216.2(GALE):c.505C>T (p.Arg169Trp)
|
rs137853859
|
0.00003
|
NM_001042432.2(CLN3):c.883G>A (p.Glu295Lys)
|
rs121434286
|
0.00003
|
NM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu)
|
rs529008617
|
0.00003
|
NM_001083116.3(PRF1):c.1122G>A (p.Trp374Ter)
|
rs104894176
|
0.00003
|
NM_001110556.2(FLNA):c.5407G>A (p.Glu1803Lys)
|
rs368750879
|
0.00003
|
NM_001122955.4(BSCL2):c.864-2A>C
|
rs766061024
|
0.00003
|
NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys)
|
rs398122965
|
0.00003
|
NM_001242896.3(DEPDC5):c.3461C>T (p.Ser1154Phe)
|
rs578244490
|
0.00003
|
NM_001242896.3(DEPDC5):c.4033+5A>G
|
rs886039270
|
0.00003
|
NM_001258392.3(CLPB):c.1159C>T (p.Arg387Ter)
|
rs200203460
|
0.00003
|
NM_001258392.3(CLPB):c.1760A>G (p.Tyr587Cys)
|
rs786205138
|
0.00003
|
NM_001258392.3(CLPB):c.713C>T (p.Thr238Met)
|
rs200032855
|
0.00003
|
NM_001281503.2(SLITRK1):c.*689G>A
|
rs191284403
|
0.00003
|
NM_001358921.2(COQ2):c.440G>A (p.Arg147His)
|
rs121918231
|
0.00003
|
NM_001360.3(DHCR7):c.1342G>A (p.Glu448Lys)
|
rs80338864
|
0.00003
|
NM_001371596.2(MFSD8):c.754+2T>A
|
rs587778809
|
0.00003
|
NM_001386393.1(PANK2):c.1021C>T (p.Arg341Ter)
|
rs1250997630
|
0.00003
|
NM_001876.4(CPT1A):c.946C>G (p.Arg316Gly)
|
rs80356796
|
0.00003
|
NM_001953.5(TYMP):c.856G>A (p.Glu286Lys)
|
rs866001342
|
0.00003
|
NM_002381.5(MATN3):c.656C>A (p.Ala219Asp)
|
rs28939677
|
0.00003
|
NM_002437.5(MPV17):c.149G>A (p.Arg50Gln)
|
rs121909721
|
0.00003
|
NM_002529.4(NTRK1):c.851-33T>A
|
rs80356674
|
0.00003
|
NM_002775.5(HTRA1):c.1108C>T (p.Arg370Ter)
|
rs113993971
|
0.00003
|
NM_002863.5(PYGL):c.2017G>A (p.Glu673Lys)
|
rs113993984
|
0.00003
|
NM_002863.5(PYGL):c.2461T>C (p.Tyr821His)
|
rs113993988
|
0.00003
|
NM_003227.4(TFR2):c.750C>G (p.Tyr250Ter)
|
rs80338880
|
0.00003
|
NM_003907.3(EIF2B5):c.1016G>A (p.Arg339Gln)
|
rs113994069
|
0.00003
|
NM_003977.4(AIP):c.-5G>C
|
rs267606562
|
0.00003
|
NM_003977.4(AIP):c.591G>A (p.Glu197=)
|
rs202006716
|
0.00003
|
NM_003977.4(AIP):c.965C>T (p.Ala322Val)
|
rs267606586
|
0.00003
|
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro)
|
rs80338950
|
0.00003
|
NM_004260.4(RECQL4):c.2492_2493del (p.His831fs)
|
rs752729755
|
0.00003
|
NM_004366.6(CLCN2):c.1143del (p.Gly382fs)
|
rs863225252
|
0.00003
|
NM_005476.7(GNE):c.527A>T (p.Asp176Val)
|
rs139425890
|
0.00003
|
NM_005476.7(GNE):c.737G>A (p.Arg246Gln)
|
rs121908629
|
0.00003
|
NM_005506.4(SCARB2):c.361C>T (p.Arg121Ter)
|
rs200053119
|
0.00003
|
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter)
|
rs104893950
|
0.00003
|
NM_006397.3(RNASEH2A):c.556C>T (p.Arg186Trp)
|
rs77103971
|
0.00003
|
NM_006397.3(RNASEH2A):c.719C>T (p.Thr240Met)
|
rs79843600
|
0.00003
|
NM_006397.3(RNASEH2A):c.872G>A (p.Arg291His)
|
rs75037667
|
0.00003
|
NM_006412.4(AGPAT2):c.492+1G>A
|
rs933422777
|
0.00003
|
NM_007375.4(TARDBP):c.1144G>A (p.Ala382Thr)
|
rs367543041
|
0.00003
|
NM_007375.4(TARDBP):c.800A>G (p.Asn267Ser)
|
rs80356718
|
0.00003
|
NM_012208.4(HARS2):c.598C>G (p.Leu200Val)
|
rs397515410
|
0.00003
|
NM_014251.3(SLC25A13):c.615+5G>A
|
rs80338717
|
0.00003
|
NM_014297.5(ETHE1):c.491C>A (p.Thr164Lys)
|
rs1268640442
|
0.00003
|
NM_014297.5(ETHE1):c.586G>A (p.Asp196Asn)
|
rs763799125
|
0.00003
|
NM_015046.7(SETX):c.5927T>G (p.Leu1976Arg)
|
rs121434379
|
0.00003
|
NM_015102.5(NPHP4):c.1972C>T (p.Arg658Ter)
|
rs137852923
|
0.00003
|
NM_015713.5(RRM2B):c.329G>A (p.Arg110His)
|
rs267607025
|
0.00003
|
NM_015713.5(RRM2B):c.671T>G (p.Ile224Ser)
|
rs515726196
|
0.00003
|
NM_015713.5(RRM2B):c.817G>A (p.Gly273Ser)
|
rs387906891
|
0.00003
|
NM_016194.4(GNB5):c.368C>T (p.Ser123Leu)
|
rs761399728
|
0.00003
|
NM_018082.6(POLR3B):c.1018C>T (p.Arg340Ter)
|
rs148879912
|
0.00003
|
NM_018082.6(POLR3B):c.1648C>T (p.Arg550Ter)
|
rs267608688
|
0.00003
|
NM_018136.5(ASPM):c.5136C>A (p.Tyr1712Ter)
|
rs148294838
|
0.00003
|
NM_018136.5(ASPM):c.9238A>T (p.Lys3080Ter)
|
rs199422186
|
0.00003
|
NM_020247.5(COQ8A):c.895C>T (p.Arg299Trp)
|
rs201908721
|
0.00003
|
NM_021830.5(TWNK):c.1802G>A (p.Arg601Gln)
|
rs141315771
|
0.00003
|
NM_022124.6(CDH23):c.9127C>T (p.Arg3043Trp)
|
rs375907609
|
0.00003
|
NM_022124.6(CDH23):c.9565C>T (p.Arg3189Trp)
|
rs121908353
|
0.00003
|
NM_024312.5(GNPTAB):c.1001G>A (p.Arg334Gln)
|
rs281864970
|
0.00003
|
NM_024312.5(GNPTAB):c.3335+1G>A
|
rs34940801
|
0.00003
|
NM_024312.5(GNPTAB):c.832C>T (p.Gln278Ter)
|
rs35878526
|
0.00003
|
NM_024577.4(SH3TC2):c.1972C>T (p.Arg658Cys)
|
rs80338926
|
0.00003
|
NM_024577.4(SH3TC2):c.2710C>T (p.Arg904Ter)
|
rs80338931
|
0.00003
|
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter)
|
rs80338934
|
0.00003
|
NM_024596.5(MCPH1):c.80C>G (p.Thr27Arg)
|
rs199422124
|
0.00003
|
NM_024876.4(COQ8B):c.958C>T (p.Arg320Trp)
|
rs369573693
|
0.00003
|
NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser)
|
rs387906980
|
0.00003
|
NM_025137.4(SPG11):c.2834+1G>T
|
rs312262749
|
0.00003
|
NM_025137.4(SPG11):c.6100C>T (p.Arg2034Ter)
|
rs118203963
|
0.00003
|
NM_031448.6(C19orf12):c.-2C>T
|
rs397514477
|
0.00003
|
NM_032119.4(ADGRV1):c.16377G>T (p.Gln5459His)
|
rs371947306
|
0.00003
|
NM_032601.4(MCEE):c.178A>C (p.Lys60Gln)
|
rs147401037
|
0.00003
|
NM_033409.4(SLC52A3):c.796C>T (p.Arg266Trp)
|
rs370499474
|
0.00003
|
NM_033629.6(TREX1):c.500del (p.Ser167fs)
|
rs76642637
|
0.00003
|
NM_052845.4(MMAB):c.291-1G>A
|
rs199971687
|
0.00003
|
NM_052845.4(MMAB):c.572G>A (p.Arg191Gln)
|
rs746219370
|
0.00003
|
NM_052989.3(IFT122):c.965C>T (p.Ser322Phe)
|
rs267607192
|
0.00003
|
NM_080669.6(SLC46A1):c.1082-1G>A
|
rs80338775
|
0.00003
|
NM_080669.6(SLC46A1):c.1126C>T (p.Arg376Trp)
|
rs80338773
|
0.00003
|
NM_153026.3(PRICKLE1):c.311G>A (p.Arg104Gln)
|
rs113994140
|
0.00003
|
NM_198578.4(LRRK2):c.1464A>T (p.Leu488=)
|
rs75711334
|
0.00003
|
NM_198578.4(LRRK2):c.1517G>A (p.Arg506Gln)
|
rs202009639
|
0.00003
|
NM_198578.4(LRRK2):c.1987T>C (p.Ser663Pro)
|
rs78154388
|
0.00003
|
NM_198578.4(LRRK2):c.2314C>T (p.Arg772Ter)
|
rs376015112
|
0.00003
|
NM_198578.4(LRRK2):c.3287C>G (p.Ser1096Cys)
|
rs76535406
|
0.00003
|
NM_198578.4(LRRK2):c.4290C>T (p.Ala1430=)
|
rs111435410
|
0.00003
|
NM_198578.4(LRRK2):c.4321C>T (p.Arg1441Cys)
|
rs33939927
|
0.00003
|
NM_198578.4(LRRK2):c.5183G>A (p.Arg1728His)
|
rs145364431
|
0.00003
|
NM_198578.4(LRRK2):c.7168G>A (p.Val2390Met)
|
rs79546190
|
0.00003
|
NM_198578.4(LRRK2):c.7224G>A (p.Met2408Ile)
|
rs60545352
|
0.00003
|
NM_198586.3(NHLRC1):c.436G>A (p.Asp146Asn)
|
rs769301934
|
0.00003
|
NM_203290.4(POLR1C):c.221A>G (p.Asn74Ser)
|
rs371802902
|
0.00003
|
NM_203290.4(POLR1C):c.785T>C (p.Ile262Thr)
|
rs751006626
|
0.00003
|
NM_207352.4(CYP4V2):c.1199G>A (p.Arg400His)
|
rs199476203
|
0.00003
|
NM_207352.4(CYP4V2):c.1523G>A (p.Arg508His)
|
rs119103284
|
0.00003
|
NM_213595.4(ISCU):c.149G>A (p.Gly50Glu)
|
rs267607190
|
0.00003
|
NR_001566.1(TERC):n.37A>G
|
rs199422261
|
0.00003
|
NM_000018.4(ACADVL):c.709T>C (p.Cys237Arg)
|
rs1189763523
|
0.00002
|
NM_000030.3(AGXT):c.245G>A (p.Gly82Glu)
|
rs121908522
|
0.00002
|
NM_000030.3(AGXT):c.466G>A (p.Gly156Arg)
|
rs121908530
|
0.00002
|
NM_000030.3(AGXT):c.560C>T (p.Ser187Phe)
|
rs180177238
|
0.00002
|
NM_000051.4(ATM):c.8786+1G>A
|
rs17174393
|
0.00002
|
NM_000069.3(CACNA1S):c.1582C>T (p.Arg528Cys)
|
rs80338778
|
0.00002
|
NM_000071.3(CBS):c.1006C>T (p.Arg336Cys)
|
rs398123151
|
0.00002
|
NM_000083.3(CLCN1):c.1649C>T (p.Thr550Met)
|
rs762754992
|
0.00002
|
NM_000094.4(COL7A1):c.1732C>T (p.Arg578Ter)
|
rs144023803
|
0.00002
|
NM_000094.4(COL7A1):c.497dup (p.Val168fs)
|
rs766902987
|
0.00002
|
NM_000096.4(CP):c.229G>C (p.Asp77His)
|
rs200683433
|
0.00002
|
NM_000100.4(CSTB):c.202C>T (p.Arg68Ter)
|
rs74315442
|
0.00002
|
NM_000112.4(SLC26A2):c.2033G>T (p.Gly678Val)
|
rs104893916
|
0.00002
|
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro)
|
rs104886458
|
0.00002
|
NM_000151.4(G6PC1):c.648G>T (p.Leu216=)
|
rs80356484
|
0.00002
|
NM_000153.4(GALC):c.857G>A (p.Gly286Asp)
|
rs199847983
|
0.00002
|
NM_000155.4(GALT):c.626A>G (p.Tyr209Cys)
|
rs111033744
|
0.00002
|
NM_000158.4(GBE1):c.671T>C (p.Leu224Pro)
|
rs137852886
|
0.00002
|
NM_000255.4(MMUT):c.52C>T (p.Gln18Ter)
|
rs121918248
|
0.00002
|
NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu)
|
rs104894595
|
0.00002
|
NM_000302.4(PLOD1):c.1533C>G (p.Tyr511Ter)
|
rs121913552
|
0.00002
|
NM_000311.5(PRNP):c.628G>A (p.Val210Ile)
|
rs74315407
|
0.00002
|
NM_000335.5(SCN5A):c.845G>A (p.Arg282His)
|
rs199473083
|
0.00002
|
NM_000370.3(TTPA):c.661C>T (p.Arg221Trp)
|
rs35916840
|
0.00002
|
NM_000404.4(GLB1):c.1343A>T (p.Asp448Val)
|
rs757926581
|
0.00002
|
NM_000485.3(APRT):c.448G>T (p.Val150Phe)
|
rs281860266
|
0.00002
|
NM_000492.4(CFTR):c.1679G>C (p.Arg560Thr)
|
rs80055610
|
0.00002
|
NM_000512.5(GALNS):c.776G>A (p.Arg259Gln)
|
rs118204442
|
0.00002
|
NM_000512.5(GALNS):c.935C>G (p.Thr312Ser)
|
rs118204446
|
0.00002
|
NM_000518.5(HBB):c.20del (p.Glu7fs)
|
rs63749819
|
0.00002
|
NM_000518.5(HBB):c.52A>T (p.Lys18Ter)
|
rs33986703
|
0.00002
|
NM_000518.5(HBB):c.82G>T (p.Ala28Ser)
|
rs35424040
|
0.00002
|
NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys)
|
rs121964961
|
0.00002
|
NM_000631.5(NCF4):c.143_152dup (p.Lys52fs)
|
rs869025585
|
0.00002
|
NM_000642.3(AGL):c.2039G>A (p.Trp680Ter)
|
rs113994129
|
0.00002
|
NM_001008216.2(GALE):c.151C>T (p.Arg51Trp)
|
rs780517804
|
0.00002
|
NM_001008216.2(GALE):c.905G>A (p.Gly302Asp)
|
rs137853861
|
0.00002
|
NM_001010892.3(RSPH4A):c.1468C>T (p.Arg490Ter)
|
rs118204043
|
0.00002
|
NM_001010892.3(RSPH4A):c.460C>T (p.Gln154Ter)
|
rs118204041
|
0.00002
|
NM_001032386.2(SUOX):c.1200C>G (p.Tyr400Ter)
|
rs747461754
|
0.00002
|
NM_001082486.2(ACD):c.1213C>A (p.Pro405Thr)
|
rs201441120
|
0.00002
|
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser)
|
rs137852972
|
0.00002
|
NM_001330260.2(SCN8A):c.1588C>T (p.Arg530Trp)
|
rs761336234
|
0.00002
|
NM_001356.5(DDX3X):c.236G>A (p.Arg79Lys)
|
rs1064795656
|
0.00002
|
NM_001358921.2(COQ2):c.287G>A (p.Ser96Asn)
|
rs121918233
|
0.00002
|
NM_001379610.1(SPINK1):c.27del (p.Ser10fs)
|
rs193922659
|
0.00002
|
NM_001384732.1(CPLANE1):c.4006C>T (p.Arg1336Trp)
|
rs367543061
|
0.00002
|
NM_001384732.1(CPLANE1):c.4804C>T (p.Arg1602Ter)
|
rs367543063
|
0.00002
|
NM_001386393.1(PANK2):c.1253C>T (p.Thr418Met)
|
rs137852967
|
0.00002
|
NM_001739.2(CA5A):c.721G>A (p.Glu241Lys)
|
rs563971993
|
0.00002
|
NM_002074.5(GNB1):c.727A>G (p.Thr243Ala)
|
rs1394767075
|
0.00002
|
NM_002529.4(NTRK1):c.287+2dup
|
rs768373757
|
0.00002
|
NM_002769.5(PRSS1):c.364C>T (p.Arg122Cys)
|
rs111033568
|
0.00002
|
NM_002863.5(PYGL):c.1366G>A (p.Val456Met)
|
rs113993979
|
0.00002
|
NM_002863.5(PYGL):c.1471C>T (p.Arg491Cys)
|
rs113993980
|
0.00002
|
NM_002863.5(PYGL):c.1768+1G>A
|
rs113993982
|
0.00002
|
NM_003119.4(SPG7):c.1192C>T (p.Arg398Ter)
|
rs1373388852
|
0.00002
|
NM_003977.4(AIP):c.383G>A (p.Arg128His)
|
rs267606550
|
0.00002
|
NM_004366.6(CLCN2):c.1015G>C (p.Val339Leu)
|
rs532632165
|
0.00002
|
NM_004366.6(CLCN2):c.1709G>A (p.Trp570Ter)
|
rs201330912
|
0.00002
|
NM_004366.6(CLCN2):c.1957A>T (p.Arg653Ter)
|
rs863225256
|
0.00002
|
NM_004366.6(CLCN2):c.2279C>T (p.Ala760Val)
|
rs781034991
|
0.00002
|
NM_004519.4(KCNQ3):c.1403A>G (p.Asn468Ser)
|
rs118192252
|
0.00002
|
NM_004629.2(FANCG):c.1480+1G>C
|
rs149616199
|
0.00002
|
NM_004937.3(CTNS):c.198_218del (p.Ile67_Pro73del)
|
rs113994204
|
0.00002
|
NM_005045.4(RELN):c.2168A>G (p.Tyr723Cys)
|
rs768119894
|
0.00002
|
NM_005055.5(RAPSN):c.-210A>G
|
rs786200905
|
0.00002
|
NM_005247.4(FGF3):c.310C>T (p.Arg104Ter)
|
rs121917704
|
0.00002
|
NM_005476.7(GNE):c.1714G>C (p.Val572Leu)
|
rs121908632
|
0.00002
|
NM_005476.7(GNE):c.1760T>C (p.Ile587Thr)
|
rs748949603
|
0.00002
|
NM_006031.6(PCNT):c.1468C>T (p.Gln490Ter)
|
rs181690344
|
0.00002
|
NM_006031.6(PCNT):c.3465-1G>A
|
rs755084205
|
0.00002
|
NM_006397.3(RNASEH2A):c.704G>A (p.Arg235Gln)
|
rs75718910
|
0.00002
|
NM_006502.3(POLH):c.490G>T (p.Glu164Ter)
|
rs767433001
|
0.00002
|
NM_007055.4(POLR3A):c.2350G>A (p.Gly784Ser)
|
rs771786550
|
0.00002
|
NM_007055.4(POLR3A):c.2617-1G>A
|
rs181087667
|
0.00002
|
NM_007055.4(POLR3A):c.3013C>T (p.Arg1005Cys)
|
rs267608682
|
0.00002
|
NM_007055.4(POLR3A):c.3014G>A (p.Arg1005His)
|
rs200118797
|
0.00002
|
NM_012233.3(RAB3GAP1):c.899+1G>A
|
rs587777152
|
0.00002
|
NM_014297.5(ETHE1):c.488G>A (p.Arg163Gln)
|
rs745656120
|
0.00002
|
NM_014363.6(SACS):c.7504C>T (p.Arg2502Ter)
|
rs281865118
|
0.00002
|
NM_014694.4(ADAMTSL2):c.340G>A (p.Glu114Lys)
|
rs113994123
|
0.00002
|
NM_015340.4(LARS2):c.1556C>T (p.Thr519Met)
|
rs141097216
|
0.00002
|
NM_015474.4(SAMHD1):c.602T>A (p.Ile201Asn)
|
rs138603088
|
0.00002
|
NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter)
|
rs587776889
|
0.00002
|
NM_015713.5(RRM2B):c.48G>A (p.Glu16=)
|
rs515726180
|
0.00002
|
NM_015713.5(RRM2B):c.686G>T (p.Gly229Val)
|
rs121918311
|
0.00002
|
NM_016038.4(SBDS):c.258+1G>C
|
rs113993992
|
0.00002
|
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)
|
rs387907196
|
0.00002
|
NM_016616.5(NME8):c.1277T>A (p.Leu426Ter)
|
rs121918300
|
0.00002
|
NM_018082.6(POLR3B):c.1263+2T>C
|
rs774526181
|
0.00002
|
NM_018082.6(POLR3B):c.1857-12A>G
|
rs528038639
|
0.00002
|
NM_018082.6(POLR3B):c.2774C>T (p.Pro925Leu)
|
rs775141057
|
0.00002
|
NM_018082.6(POLR3B):c.2899A>C (p.Ser967Arg)
|
rs200865021
|
0.00002
|
NM_018136.5(ASPM):c.349C>T (p.Arg117Ter)
|
rs137852996
|
0.00002
|
NM_018206.6(VPS35):c.2210C>T (p.Ala737Val)
|
rs749516404
|
0.00002
|
NM_018965.4(TREM2):c.97C>T (p.Gln33Ter)
|
rs104894002
|
0.00002
|
NM_019032.6(ADAMTSL4):c.2237G>A (p.Arg746His)
|
rs754966903
|
0.00002
|
NM_020247.5(COQ8A):c.1651G>A (p.Glu551Lys)
|
rs119468004
|
0.00002
|
NM_020312.4(COQ9):c.730C>T (p.Arg244Ter)
|
rs267606751
|
0.00002
|
NM_020381.4(PDSS2):c.1145C>T (p.Ser382Leu)
|
rs118203956
|
0.00002
|
NM_024312.5(GNPTAB):c.2715+2T>G
|
rs281865001
|
0.00002
|
NM_024312.5(GNPTAB):c.771G>A (p.Leu257=)
|
rs281865025
|
0.00002
|
NM_024577.4(SH3TC2):c.1586G>A (p.Arg529His)
|
rs80338923
|
0.00002
|
NM_024577.4(SH3TC2):c.1969G>A (p.Glu657Lys)
|
rs80338925
|
0.00002
|
NM_024876.4(COQ8B):c.857A>G (p.Asp286Gly)
|
rs398122979
|
0.00002
|
NM_025137.4(SPG11):c.1951C>T (p.Arg651Ter)
|
rs199588440
|
0.00002
|
NM_025137.4(SPG11):c.5623C>T (p.Gln1875Ter)
|
rs141848292
|
0.00002
|
NM_025137.4(SPG11):c.704_705del (p.His235fs)
|
rs312262719
|
0.00002
|
NM_030777.4(SLC2A10):c.1330C>T (p.Arg444Ter)
|
rs370547023
|
0.00002
|
NM_030777.4(SLC2A10):c.692G>A (p.Arg231Gln)
|
rs771028960
|
0.00002
|
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln)
|
rs104886308
|
0.00002
|
NM_033409.4(SLC52A3):c.1238T>C (p.Val413Ala)
|
rs267606687
|
0.00002
|
NM_033409.4(SLC52A3):c.394C>T (p.Arg132Trp)
|
rs267606684
|
0.00002
|
NM_052845.4(MMAB):c.568C>T (p.Arg190Cys)
|
rs398124434
|
0.00002
|
NM_130837.3(OPA1):c.740G>A (p.Arg247His)
|
rs138350727
|
0.00002
|
NM_138387.4(G6PC3):c.829C>T (p.Gln277Ter)
|
rs148559256
|
0.00002
|
NM_153676.4(USH1C):c.216G>A (p.Val72=)
|
rs151045328
|
0.00002
|
NM_172250.3(MMAA):c.266T>C (p.Leu89Pro)
|
rs864309726
|
0.00002
|
NM_173477.5(USH1G):c.46C>G (p.Leu16Val)
|
rs876657419
|
0.00002
|
NM_178452.6(DNAAF1):c.811C>T (p.Arg271Ter)
|
rs267607225
|
0.00002
|
NM_182978.4(GNAL):c.505-5T>C
|
rs766177601
|
0.00002
|
NM_194248.3(OTOF):c.4718T>C (p.Ile1573Thr)
|
rs111033405
|
0.00002
|
NM_194248.3(OTOF):c.5815C>T (p.Arg1939Trp)
|
rs368790049
|
0.00002
|
NM_198578.4(LRRK2):c.1132C>T (p.Leu378Phe)
|
rs200870486
|
0.00002
|
NM_198578.4(LRRK2):c.3200G>A (p.Arg1067Gln)
|
rs111341148
|
0.00002
|
NM_198578.4(LRRK2):c.7186_7187dup (p.Val2396_Met2397insTer)
|
rs281865056
|
0.00002
|
NM_206933.4(USH2A):c.9921T>G (p.Cys3307Trp)
|
rs1057519382
|
0.00002
|
NM_213655.5(WNK1):c.3301C>T (p.Gln1101Ter)
|
rs111033590
|
0.00002
|
NM_000021.4(PSEN1):c.806G>A (p.Arg269His)
|
rs63750900
|
0.00001
|
NM_000047.3(ARSL):c.119T>G (p.Ile40Ser)
|
rs80338710
|
0.00001
|
NM_000047.3(ARSL):c.1442C>T (p.Thr481Met)
|
rs80338713
|
0.00001
|
NM_000047.3(ARSL):c.1732C>T (p.Pro578Ser)
|
rs28935474
|
0.00001
|
NM_000049.4(ASPA):c.770C>G (p.Pro257Arg)
|
rs377217076
|
0.00001
|
NM_000051.4(ATM):c.2T>C (p.Met1Thr)
|
rs786203606
|
0.00001
|
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys)
|
rs202206540
|
0.00001
|
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys)
|
rs564652222
|
0.00001
|
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys)
|
rs587779872
|
0.00001
|
NM_000069.3(CACNA1S):c.1583G>A (p.Arg528His)
|
rs80338777
|
0.00001
|
NM_000070.3(CAPN3):c.133G>A (p.Ala45Thr)
|
rs774048743
|
0.00001
|
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His)
|
rs778768583
|
0.00001
|
NM_000081.4(LYST):c.3310C>T (p.Arg1104Ter)
|
rs80338652
|
0.00001
|
NM_000083.3(CLCN1):c.1592C>T (p.Ala531Val)
|
rs80356704
|
0.00001
|
NM_000083.3(CLCN1):c.1655A>G (p.Gln552Arg)
|
rs80356696
|
0.00001
|
NM_000083.3(CLCN1):c.929C>T (p.Thr310Met)
|
rs80356691
|
0.00001
|
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln)
|
rs80356702
|
0.00001
|
NM_000088.4(COL1A1):c.3040C>T (p.Arg1014Cys)
|
rs72653170
|
0.00001
|
NM_000095.3(COMP):c.500G>A (p.Gly167Glu)
|
rs763887855
|
0.00001
|
NM_000096.4(CP):c.1209-2A>G
|
rs386134137
|
0.00001
|
NM_000096.4(CP):c.2689_2690del (p.Leu897fs)
|
rs386134153
|
0.00001
|
NM_000096.4(CP):c.2701C>T (p.Arg901Ter)
|
rs386134156
|
0.00001
|
NM_000096.4(CP):c.395-1G>A
|
rs386134135
|
0.00001
|
NM_000096.4(CP):c.548T>C (p.Ile183Thr)
|
rs386134123
|
0.00001
|
NM_000096.4(CP):c.643C>T (p.Arg215Ter)
|
rs386134155
|
0.00001
|
NM_000098.3(CPT2):c.1148T>A (p.Phe383Tyr)
|
rs74315295
|
0.00001
|
NM_000098.3(CPT2):c.1507C>T (p.Arg503Cys)
|
rs74315296
|
0.00001
|
NM_000098.3(CPT2):c.1891C>T (p.Arg631Cys)
|
rs74315293
|
0.00001
|
NM_000098.3(CPT2):c.452G>A (p.Arg151Gln)
|
rs515726177
|
0.00001
|
NM_000098.3(CPT2):c.520G>A (p.Glu174Lys)
|
rs28936674
|
0.00001
|
NM_000100.4(CSTB):c.10G>C (p.Gly4Arg)
|
rs74315443
|
0.00001
|
NM_000100.4(CSTB):c.125C>A (p.Ser42Ter)
|
rs386833439
|
0.00001
|
NM_000100.4(CSTB):c.136C>T (p.Gln46Ter)
|
rs545986367
|
0.00001
|
NM_000100.4(CSTB):c.149G>A (p.Gly50Glu)
|
rs312262708
|
0.00001
|
NM_000112.4(SLC26A2):c.1361A>C (p.Gln454Pro)
|
rs104893921
|
0.00001
|
NM_000119.2(EPB42):c.424G>A (p.Ala142Thr)
|
rs104894487
|
0.00001
|
NM_000135.4(FANCA):c.2738A>C (p.His913Pro)
|
rs1302083447
|
0.00001
|
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter)
|
rs121917784
|
0.00001
|
NM_000137.4(FAH):c.192G>T (p.Gln64His)
|
rs80338894
|
0.00001
|
NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr)
|
rs121913105
|
0.00001
|
NM_000151.4(G6PC1):c.248G>A (p.Arg83His)
|
rs1801176
|
0.00001
|
NM_000153.4(GALC):c.169G>A (p.Gly57Ser)
|
rs11623
|
0.00001
|
NM_000156.6(GAMT):c.438A>G (p.Thr146=)
|
rs80338733
|
0.00001
|
NM_000157.4(GBA1):c.1246G>A (p.Gly416Ser)
|
rs121908311
|
0.00001
|
NM_000157.4(GBA1):c.1297G>T (p.Val433Leu)
|
rs80356769
|
0.00001
|
NM_000157.4(GBA1):c.1505G>A (p.Arg502His)
|
rs80356772
|
0.00001
|
NM_000157.4(GBA1):c.476G>A (p.Arg159Gln)
|
rs79653797
|
0.00001
|
NM_000157.4(GBA1):c.703T>C (p.Ser235Pro)
|
rs1064644
|
0.00001
|
NM_000157.4(GBA1):c.754T>A (p.Phe252Ile)
|
rs381737
|
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_000166.6(GJB1):c.415G>A (p.Val139Met)
|
rs104894812
|
0.00001
|
NM_000171.4(GLRA1):c.299G>A (p.Arg100His)
|
rs281864914
|
0.00001
|
NM_000179.3(MSH6):c.1346T>C (p.Leu449Pro)
|
rs63750741
|
0.00001
|
NM_000179.3(MSH6):c.467C>G (p.Ser156Ter)
|
rs63749873
|
0.00001
|
NM_000179.3(MSH6):c.651dup (p.Lys218Ter)
|
rs63750955
|
0.00001
|
NM_000186.4(CFH):c.3590T>C (p.Val1197Ala)
|
rs460184
|
0.00001
|
NM_000193.4(SHH):c.1005G>A (p.Val335=)
|
rs587778774
|
0.00001
|
NM_000193.4(SHH):c.1147G>A (p.Ala383Thr)
|
rs137853341
|
0.00001
|
NM_000193.4(SHH):c.664G>A (p.Asp222Asn)
|
rs587778805
|
0.00001
|
NM_000202.8(IDS):c.1403G>A (p.Arg468Gln)
|
rs113993946
|
0.00001
|
NM_000203.5(IDUA):c.152G>A (p.Gly51Asp)
|
rs794726877
|
0.00001
|
NM_000203.5(IDUA):c.266G>A (p.Arg89Gln)
|
rs121965029
|
0.00001
|
NM_000213.5(ITGB4):c.182G>A (p.Cys61Tyr)
|
rs80338755
|
0.00001
|
NM_000218.3(KCNQ1):c.1588C>T (p.Gln530Ter)
|
rs397508097
|
0.00001
|
NM_000235.4(LIPA):c.260G>T (p.Gly87Val)
|
rs587778878
|
0.00001
|
NM_000255.4(MMUT):c.1280G>A (p.Gly427Asp)
|
rs753288303
|
0.00001
|
NM_000255.4(MMUT):c.2054T>G (p.Leu685Arg)
|
rs864309739
|
0.00001
|
NM_000255.4(MMUT):c.2080C>T (p.Arg694Trp)
|
rs777758903
|
0.00001
|
NM_000255.4(MMUT):c.2099T>A (p.Met700Lys)
|
rs140600746
|
0.00001
|
NM_000255.4(MMUT):c.2179C>T (p.Arg727Ter)
|
rs779990936
|
0.00001
|
NM_000255.4(MMUT):c.313T>C (p.Trp105Arg)
|
rs121918249
|
0.00001
|
NM_000255.4(MMUT):c.322C>T (p.Arg108Cys)
|
rs121918257
|
0.00001
|
NM_000255.4(MMUT):c.521T>C (p.Phe174Ser)
|
rs864309733
|
0.00001
|
NM_000255.4(MMUT):c.607G>A (p.Gly203Arg)
|
rs778702777
|
0.00001
|
NM_000260.4(MYO7A):c.1556G>A (p.Gly519Asp)
|
rs111033206
|
0.00001
|
NM_000260.4(MYO7A):c.1952T>C (p.Leu651Pro)
|
rs876657416
|
0.00001
|
NM_000260.4(MYO7A):c.6070C>T (p.Arg2024Ter)
|
rs111033198
|
0.00001
|
NM_000263.4(NAGLU):c.1489C>G (p.Leu497Val)
|
rs1353058781
|
0.00001
|
NM_000263.4(NAGLU):c.1927C>T (p.Arg643Cys)
|
rs104894594
|
0.00001
|
NM_000271.5(NPC1):c.2324A>C (p.Gln775Pro)
|
rs80358253
|
0.00001
|
NM_000271.5(NPC1):c.3160G>A (p.Ala1054Thr)
|
rs80358258
|
0.00001
|
NM_000271.5(NPC1):c.530G>A (p.Cys177Tyr)
|
rs80358252
|
0.00001
|
NM_000278.5(PAX2):c.1021+233A>T
|
rs606231415
|
0.00001
|
NM_000288.4(PEX7):c.854A>G (p.His285Arg)
|
rs62653611
|
0.00001
|
NM_000302.4(PLOD1):c.955C>T (p.Arg319Ter)
|
rs121913550
|
0.00001
|
NM_000303.3(PMM2):c.338C>T (p.Pro113Leu)
|
rs80338700
|
0.00001
|
NM_000303.3(PMM2):c.395T>C (p.Ile132Thr)
|
rs80338702
|
0.00001
|
NM_000303.3(PMM2):c.563A>G (p.Asp188Gly)
|
rs80338704
|
0.00001
|
NM_000303.3(PMM2):c.95T>G (p.Leu32Arg)
|
rs104894533
|
0.00001
|
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter)
|
rs121909224
|
0.00001
|
NM_000334.4(SCN4A):c.2006G>A (p.Arg669His)
|
rs80338784
|
0.00001
|
NM_000334.4(SCN4A):c.2023C>T (p.Arg675Trp)
|
rs121908556
|
0.00001
|
NM_000334.4(SCN4A):c.2024G>A (p.Arg675Gln)
|
rs121908557
|
0.00001
|
NM_000334.4(SCN4A):c.3395G>A (p.Arg1132Gln)
|
rs80338789
|
0.00001
|
NM_000334.4(SCN4A):c.4360C>T (p.Arg1454Trp)
|
rs879253789
|
0.00001
|
NM_000334.4(SCN4A):c.664C>T (p.Arg222Trp)
|
rs527236148
|
0.00001
|
NM_000335.5(SCN5A):c.4856C>T (p.Thr1619Met)
|
rs199473282
|
0.00001
|
NM_000360.4(TH):c.614T>C (p.Leu205Pro)
|
rs121917763
|
0.00001
|
NM_000370.3(TTPA):c.175C>T (p.Arg59Trp)
|
rs397515522
|
0.00001
|
NM_000370.3(TTPA):c.421G>A (p.Glu141Lys)
|
rs397515524
|
0.00001
|
NM_000375.3(UROS):c.-203T>C
|
rs1554891988
|
0.00001
|
NM_000375.3(UROS):c.244G>T (p.Val82Phe)
|
rs121908016
|
0.00001
|
NM_000380.4(XPA):c.390-1G>C
|
rs750218942
|
0.00001
|
NM_000381.4(MID1):c.1483C>T (p.Arg495Ter)
|
rs745554420
|
0.00001
|
NM_000390.4(CHM):c.1609+2dup
|
rs386833676
|
0.00001
|
NM_000400.4(ERCC2):c.2048G>A (p.Arg683Gln)
|
rs758439420
|
0.00001
|
NM_000414.4(HSD17B4):c.1704T>A (p.Tyr568Ter)
|
rs1038744864
|
0.00001
|
NM_000426.4(LAMA2):c.1854_1861dup (p.Leu621fs)
|
rs202247791
|
0.00001
|
NM_000426.4(LAMA2):c.2901C>A (p.Cys967Ter)
|
rs121913577
|
0.00001
|
NM_000459.5(TEK):c.2545C>T (p.Arg849Trp)
|
rs80338908
|
0.00001
|
NM_000478.6(ALPL):c.1133A>T (p.Asp378Val)
|
rs121918008
|
0.00001
|
NM_000478.6(ALPL):c.1559del (p.Leu520fs)
|
rs387906525
|
0.00001
|
NM_000485.3(APRT):c.294G>A (p.Trp98Ter)
|
rs104894507
|
0.00001
|
NM_000487.6(ARSA):c.1210+1G>A
|
rs80338820
|
0.00001
|
NM_000487.6(ARSA):c.769G>C (p.Asp257His)
|
rs80338819
|
0.00001
|
NM_000512.5(GALNS):c.1520G>T (p.Cys507Phe)
|
rs398123433
|
0.00001
|
NM_000512.5(GALNS):c.898+1G>C
|
rs761850746
|
0.00001
|
NM_000516.7(GNAS):c.601C>T (p.Arg201Cys)
|
rs11554273
|
0.00001
|
NM_000516.7(GNAS):c.602G>A (p.Arg201His)
|
rs121913495
|
0.00001
|
NM_000518.5(HBB):c.*111A>G
|
rs63751128
|
0.00001
|
NM_000518.5(HBB):c.-78A>G
|
rs33931746
|
0.00001
|
NM_000518.5(HBB):c.25_26del (p.Lys9fs)
|
rs35497102
|
0.00001
|
NM_000518.5(HBB):c.92+5G>C
|
rs33915217
|
0.00001
|
NM_000528.4(MAN2B1):c.1831-2A>G
|
rs80338678
|
0.00001
|
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg)
|
rs281865128
|
0.00001
|
NM_000532.5(PCCB):c.1283C>T (p.Thr428Ile)
|
rs111033542
|
0.00001
|
NM_000532.5(PCCB):c.1495C>T (p.Arg499Ter)
|
rs202247820
|
0.00001
|
NM_000532.5(PCCB):c.1556T>C (p.Leu519Pro)
|
rs202247822
|
0.00001
|
NM_000532.5(PCCB):c.502G>A (p.Glu168Lys)
|
rs121964960
|
0.00001
|
NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln)
|
rs118192130
|
0.00001
|
NM_000540.3(RYR1):c.14170A>C (p.Lys4724Gln)
|
rs118192141
|
0.00001
|
NM_000540.3(RYR1):c.14818G>A (p.Ala4940Thr)
|
rs118192158
|
0.00001
|
NM_000540.3(RYR1):c.178G>A (p.Asp60Asn)
|
rs118192160
|
0.00001
|
NM_000540.3(RYR1):c.6487C>T (p.Arg2163Cys)
|
rs118192175
|
0.00001
|
NM_000540.3(RYR1):c.7361G>A (p.Arg2454His)
|
rs118192122
|
0.00001
|
NM_000543.5(SMPD1):c.1267C>T (p.His423Tyr)
|
rs120074126
|
0.00001
|
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp)
|
rs45438205
|
0.00001
|
NM_000548.5(TSC2):c.5138G>A (p.Arg1713His)
|
rs45517395
|
0.00001
|
NM_000552.5(VWF):c.2372C>T (p.Thr791Met)
|
rs61748477
|
0.00001
|
NM_000552.5(VWF):c.4135C>T (p.Arg1379Cys)
|
rs61750074
|
0.00001
|
NM_000552.5(VWF):c.7603C>T (p.Arg2535Ter)
|
rs61751296
|
0.00001
|
NM_000639.3(FASLG):c.740C>A (p.Ala247Glu)
|
rs80358237
|
0.00001
|
NM_000639.3(FASLG):c.829G>A (p.Gly277Ser)
|
rs1413244355
|
0.00001
|
NM_000642.3(AGL):c.1222C>T (p.Arg408Ter)
|
rs113994128
|
0.00001
|
NM_000642.3(AGL):c.3682C>T (p.Arg1228Ter)
|
rs113994131
|
0.00001
|
NM_000702.4(ATP1A2):c.2152G>A (p.Asp718Asn)
|
rs121918614
|
0.00001
|
NM_000744.7(CHRNA4):c.1007G>A (p.Arg336His)
|
rs281865068
|
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_000787.4(DBH):c.1409C>T (p.Thr470Ile)
|
rs770407025
|
0.00001
|
NM_000891.3(KCNJ2):c.953A>G (p.Asn318Ser)
|
rs367560052
|
0.00001
|
NM_001008216.2(GALE):c.280G>A (p.Val94Met)
|
rs121908047
|
0.00001
|
NM_001008216.2(GALE):c.715C>T (p.Arg239Trp)
|
rs137853860
|
0.00001
|
NM_001010892.3(RSPH4A):c.325C>T (p.Gln109Ter)
|
rs118204042
|
0.00001
|
NM_001017420.3(ESCO2):c.1131+1G>A
|
rs80359861
|
0.00001
|
NM_001017420.3(ESCO2):c.1354-18G>A
|
rs80359865
|
0.00001
|
NM_001017420.3(ESCO2):c.505C>T (p.Arg169Ter)
|
rs80359849
|
0.00001
|
NM_001032386.2(SUOX):c.650G>A (p.Arg217Gln)
|
rs121908007
|
0.00001
|
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys)
|
rs797045139
|
0.00001
|
NM_001048166.1(STIL):c.2957A>G (p.His986Arg)
|
rs199422205
|
0.00001
|
NM_001048174.2(MUTYH):c.773G>A (p.Gly258Glu)
|
rs730881833
|
0.00001
|
NM_001079.4(ZAP70):c.1079G>C (p.Arg360Pro)
|
rs869025224
|
0.00001
|
NM_001079.4(ZAP70):c.1393C>T (p.Arg465Cys)
|
rs113994174
|
0.00001
|
NM_001079.4(ZAP70):c.574C>T (p.Arg192Trp)
|
rs199840952
|
0.00001
|
NM_001083116.3(PRF1):c.1090_1091del (p.Leu364fs)
|
rs771552960
|
0.00001
|
NM_001099287.2(NIPAL4):c.502G>A (p.Gly168Arg)
|
rs370356566
|
0.00001
|
NM_001110219.3(GJB6):c.14C>T (p.Thr5Met)
|
rs104894414
|
0.00001
|
NM_001114134.2(EPB42):c.830C>T (p.Thr277Ile)
|
rs515726211
|
0.00001
|
NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu)
|
rs137852973
|
0.00001
|
NM_001122955.4(BSCL2):c.517dup (p.Thr173fs)
|
rs786205071
|
0.00001
|
NM_001122955.4(BSCL2):c.604C>T (p.Arg202Ter)
|
rs137852970
|
0.00001
|
NM_001122955.4(BSCL2):c.826G>C (p.Ala276Pro)
|
rs137852971
|
0.00001
|
NM_001122955.4(BSCL2):c.985C>T (p.Arg329Ter)
|
rs587777606
|
0.00001
|
NM_001123385.2(BCOR):c.254C>T (p.Pro85Leu)
|
rs121434618
|
0.00001
|
NM_001130987.2(DYSF):c.3051G>T (p.Trp1017Cys)
|
rs28937581
|
0.00001
|
NM_001130987.2(DYSF):c.4989del (p.Glu1663fs)
|
rs1156805286
|
0.00001
|
NM_001130987.2(DYSF):c.5830C>T (p.Arg1944Ter)
|
rs121908959
|
0.00001
|
NM_001134407.3(GRIN2A):c.2927A>G (p.Asn976Ser)
|
rs886039239
|
0.00001
|
NM_001143992.2(WRAP53):c.1303G>A (p.Gly435Arg)
|
rs281865550
|
0.00001
|
NM_001164277.2(SLC37A4):c.352T>C (p.Trp118Arg)
|
rs80356489
|
0.00001
|
NM_001166114.2(PNPLA6):c.3104C>T (p.Ser1035Leu)
|
rs541098659
|
0.00001
|
NM_001172509.2(SATB2):c.1286G>A (p.Arg429Gln)
|
rs886041516
|
0.00001
|
NM_001195305.3(BBIP1):c.173T>G (p.Leu58Ter)
|
rs515726134
|
0.00001
|
NM_001199107.2(TBC1D24):c.119G>T (p.Arg40Leu)
|
rs760474458
|
0.00001
|
NM_001199107.2(TBC1D24):c.533C>T (p.Ser178Leu)
|
rs483352866
|
0.00001
|
NM_001242896.3(DEPDC5):c.1265G>A (p.Arg422Gln)
|
rs886039277
|
0.00001
|
NM_001242896.3(DEPDC5):c.1454G>A (p.Arg485Gln)
|
rs886039278
|
0.00001
|
NM_001242896.3(DEPDC5):c.1459C>T (p.Arg487Ter)
|
rs587777459
|
0.00001
|
NM_001242896.3(DEPDC5):c.1663C>T (p.Arg555Ter)
|
rs587776973
|
0.00001
|
NM_001242896.3(DEPDC5):c.21C>G (p.Tyr7Ter)
|
rs768241563
|
0.00001
|
NM_001242896.3(DEPDC5):c.2527C>T (p.Arg843Ter)
|
rs541024038
|
0.00001
|
NM_001242896.3(DEPDC5):c.268G>A (p.Val90Ile)
|
rs768456731
|
0.00001
|
NM_001244008.2(KIF1A):c.2840del (p.Leu947fs)
|
rs587778791
|
0.00001
|
NM_001256864.2(DNAJC6):c.2223A>T (p.Thr741=)
|
rs879255554
|
0.00001
|
NM_001256864.2(DNAJC6):c.2687C>T (p.Thr896Met)
|
rs200138922
|
0.00001
|
NM_001258392.3(CLPB):c.1143G>A (p.Met381Ile)
|
rs786205137
|
0.00001
|
NM_001258392.3(CLPB):c.1411G>A (p.Glu471Lys)
|
rs748915609
|
0.00001
|
NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu)
|
rs753334568
|
0.00001
|
NM_001282225.2(ADA2):c.1078A>G (p.Thr360Ala)
|
rs775440641
|
0.00001
|
NM_001287.6(CLCN7):c.856C>T (p.Arg286Trp)
|
rs1291061962
|
0.00001
|
NM_001289808.2(CRYAB):c.343del (p.Ser115fs)
|
rs281865142
|
0.00001
|
NM_001330260.2(SCN8A):c.2003C>T (p.Thr668Ile)
|
rs758253791
|
0.00001
|
NM_001358921.2(COQ2):c.1009C>T (p.Arg337Ter)
|
rs751185256
|
0.00001
|
NM_001360.3(DHCR7):c.1054C>T (p.Arg352Trp)
|
rs80338860
|
0.00001
|
NM_001360.3(DHCR7):c.506C>T (p.Ser169Leu)
|
rs80338855
|
0.00001
|
NM_001363.5(DKC1):c.1075G>A (p.Asp359Asn)
|
rs199422249
|
0.00001
|
NM_001363118.2(SLC52A2):c.1258G>A (p.Ala420Thr)
|
rs368924997
|
0.00001
|
NM_001363118.2(SLC52A2):c.155C>T (p.Ser52Phe)
|
rs397514657
|
0.00001
|
NM_001363118.2(SLC52A2):c.368T>C (p.Leu123Pro)
|
rs397514538
|
0.00001
|
NM_001363118.2(SLC52A2):c.914A>G (p.Tyr305Cys)
|
rs398123068
|
0.00001
|
NM_001363118.2(SLC52A2):c.92G>C (p.Trp31Ser)
|
rs797045199
|
0.00001
|
NM_001365088.1(SLC12A6):c.3031C>T (p.Arg1011Ter)
|
rs121908427
|
0.00001
|
NM_001369.3(DNAH5):c.1730G>C (p.Arg577Thr)
|
rs397515541
|
0.00001
|
NM_001369.3(DNAH5):c.4348C>T (p.Gln1450Ter)
|
rs771663107
|
0.00001
|
NM_001370259.2(MEN1):c.1378C>T (p.Arg460Ter)
|
rs104894267
|
0.00001
|
NM_001370298.3(FGD4):c.1234C>T (p.Arg412Ter)
|
rs118203974
|
0.00001
|
NM_001374385.1(ATP8B1):c.1993G>T (p.Glu665Ter)
|
rs515726137
|
0.00001
|
NM_001374385.1(ATP8B1):c.625C>A (p.Pro209Thr)
|
rs515726138
|
0.00001
|
NM_001375808.2(LPIN2):c.2201C>T (p.Ser734Leu)
|
rs80338807
|
0.00001
|
NM_001379610.1(SPINK1):c.199C>T (p.Arg67Cys)
|
rs515726208
|
0.00001
|
NM_001384732.1(CPLANE1):c.7400+1G>A
|
rs367543062
|
0.00001
|
NM_001386393.1(PANK2):c.1083-1G>T
|
rs148987163
|
0.00001
|
NM_001386393.1(PANK2):c.350A>G (p.Tyr117Cys)
|
rs1555787646
|
0.00001
|
NM_001457.4(FLNB):c.2452C>T (p.Arg818Ter)
|
rs80356519
|
0.00001
|
NM_001457.4(FLNB):c.4819C>T (p.Arg1607Ter)
|
rs80356520
|
0.00001
|
NM_001739.2(CA5A):c.697T>C (p.Ser233Pro)
|
rs587777316
|
0.00001
|
NM_001759.4(CCND2):c.841C>T (p.Pro281Ser)
|
rs587777621
|
0.00001
|
NM_001759.4(CCND2):c.842C>T (p.Pro281Leu)
|
rs587777622
|
0.00001
|
NM_001759.4(CCND2):c.851T>G (p.Val284Gly)
|
rs777786993
|
0.00001
|
NM_001849.4(COL6A2):c.1402C>T (p.Arg468Ter)
|
rs374669775
|
0.00001
|
NM_001876.4(CPT1A):c.1027T>G (p.Phe343Val)
|
rs80356783
|
0.00001
|
NM_001876.4(CPT1A):c.1069C>T (p.Arg357Trp)
|
rs80356777
|
0.00001
|
NM_001876.4(CPT1A):c.2129G>A (p.Gly710Glu)
|
rs80356780
|
0.00001
|
NM_001876.4(CPT1A):c.367C>T (p.Arg123Cys)
|
rs80356775
|
0.00001
|
NM_001953.5(TYMP):c.1159G>A (p.Gly387Ser)
|
rs1060499534
|
0.00001
|
NM_001953.5(TYMP):c.1300+1G>A
|
rs1064792878
|
0.00001
|
NM_001953.5(TYMP):c.340G>A (p.Asp114Asn)
|
rs1064792861
|
0.00001
|
NM_001953.5(TYMP):c.457G>A (p.Gly153Ser)
|
rs121913038
|
0.00001
|
NM_001953.5(TYMP):c.760A>C (p.Thr254Pro)
|
rs1064792870
|
0.00001
|
NM_001953.5(TYMP):c.854T>C (p.Leu285Pro)
|
rs121913042
|
0.00001
|
NM_001953.5(TYMP):c.865G>A (p.Glu289Lys)
|
rs946234163
|
0.00001
|
NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn)
|
rs137852647
|
0.00001
|
NM_002047.4(GARS1):c.332C>T (p.Ala111Val)
|
rs370531212
|
0.00001
|
NM_002049.4(GATA1):c.647G>A (p.Arg216Gln)
|
rs104894809
|
0.00001
|
NM_002055.5(GFAP):c.1154C>G (p.Ser385Cys)
|
rs797044590
|
0.00001
|
NM_002074.5(GNB1):c.239T>A (p.Ile80Asn)
|
rs752746786
|
0.00001
|
NM_002087.4(GRN):c.1477C>T (p.Arg493Ter)
|
rs63751294
|
0.00001
|
NM_002381.5(MATN3):c.659T>C (p.Val220Ala)
|
rs187943382
|
0.00001
|
NM_002437.5(MPV17):c.122G>A (p.Arg41Gln)
|
rs140992482
|
0.00001
|
NM_002454.3(MTRR):c.1361C>T (p.Ser454Leu)
|
rs137853062
|
0.00001
|
NM_002473.6(MYH9):c.2105G>A (p.Arg702His)
|
rs80338827
|
0.00001
|
NM_002524.5(NRAS):c.179G>A (p.Gly60Glu)
|
rs267606920
|
0.00001
|
NM_002609.4(PDGFRB):c.2959C>T (p.Arg987Trp)
|
rs397509382
|
0.00001
|
NM_002693.3(POLG):c.695G>A (p.Arg232His)
|
rs113994093
|
0.00001
|
NM_002769.5(PRSS1):c.365G>A (p.Arg122His)
|
rs111033565
|
0.00001
|
NM_002775.5(HTRA1):c.821G>A (p.Arg274Gln)
|
rs587776445
|
0.00001
|
NM_002775.5(HTRA1):c.889G>A (p.Val297Met)
|
rs113993969
|
0.00001
|
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met)
|
rs121918457
|
0.00001
|
NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp)
|
rs397507541
|
0.00001
|
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)
|
rs28933386
|
0.00001
|
NM_002863.5(PYGL):c.1195C>T (p.Arg399Ter)
|
rs113993978
|
0.00001
|
NM_002863.5(PYGL):c.2024C>T (p.Ser675Leu)
|
rs113993986
|
0.00001
|
NM_002863.5(PYGL):c.698G>A (p.Gly233Asp)
|
rs113993975
|
0.00001
|
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu)
|
rs80338844
|
0.00001
|
NM_003002.4(SDHD):c.274G>T (p.Asp92Tyr)
|
rs80338845
|
0.00001
|
NM_003124.5(SPR):c.596-2A>G
|
rs398122922
|
0.00001
|
NM_003221.4(TFAP2B):c.444C>A (p.Asp148Glu)
|
rs13216733
|
0.00001
|
NM_003227.4(TFR2):c.1186C>T (p.Arg396Ter)
|
rs80338882
|
0.00001
|
NM_003227.4(TFR2):c.1330G>A (p.Ala444Thr)
|
rs80338884
|
0.00001
|
NM_003227.4(TFR2):c.2137-1G>A
|
rs80338890
|
0.00001
|
NM_003227.4(TFR2):c.515T>A (p.Met172Lys)
|
rs80338879
|
0.00001
|
NM_003332.4(TYROBP):c.141del (p.Met48fs)
|
rs386833840
|
0.00001
|
NM_003361.4(UMOD):c.317G>T (p.Cys106Phe)
|
rs398123697
|
0.00001
|
NM_003850.3(SUCLA2):c.534+1G>A
|
rs113994161
|
0.00001
|
NM_003907.3(EIF2B5):c.337C>T (p.Arg113Cys)
|
rs113994050
|
0.00001
|
NM_003907.3(EIF2B5):c.584G>A (p.Arg195His)
|
rs113994054
|
0.00001
|
NM_003907.3(EIF2B5):c.925G>C (p.Val309Leu)
|
rs113994061
|
0.00001
|
NM_003977.4(AIP):c.174G>C (p.Lys58Asn)
|
rs267606539
|
0.00001
|
NM_003977.4(AIP):c.721A>G (p.Lys241Glu)
|
rs267606573
|
0.00001
|
NM_003977.4(AIP):c.783C>T (p.Tyr261=)
|
rs267606576
|
0.00001
|
NM_003977.4(AIP):c.910C>T (p.Arg304Ter)
|
rs104894195
|
0.00001
|
NM_003982.4(SLC7A7):c.726G>A (p.Trp242Ter)
|
rs121908679
|
0.00001
|
NM_004004.6(GJB2):c.224G>A (p.Arg75Gln)
|
rs28931593
|
0.00001
|
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg)
|
rs80338946
|
0.00001
|
NM_004260.4(RECQL4):c.2059-1G>A
|
rs386833849
|
0.00001
|
NM_004260.4(RECQL4):c.3056-2A>C
|
rs786200889
|
0.00001
|
NM_004260.4(RECQL4):c.3061C>T (p.Arg1021Trp)
|
rs137853232
|
0.00001
|
NM_004304.5(ALK):c.3749T>C (p.Ile1250Thr)
|
rs113994092
|
0.00001
|
NM_004366.6(CLCN2):c.2144G>A (p.Gly715Glu)
|
rs137852681
|
0.00001
|
NM_004366.6(CLCN2):c.292G>C (p.Gly98Arg)
|
rs863225249
|
0.00001
|
NM_004366.6(CLCN2):c.925C>T (p.Arg309Ter)
|
rs863225250
|
0.00001
|
NM_004425.4(ECM1):c.507del (p.Arg171fs)
|
rs869025565
|
0.00001
|
NM_004519.4(KCNQ3):c.1091G>A (p.Arg364His)
|
rs1204519015
|
0.00001
|
NM_004519.4(KCNQ3):c.914A>G (p.Asp305Gly)
|
rs118192248
|
0.00001
|
NM_004700.4(KCNQ4):c.725G>A (p.Trp242Ter)
|
rs1648206560
|
0.00001
|
NM_004700.4(KCNQ4):c.827G>C (p.Trp276Ser)
|
rs80358277
|
0.00001
|
NM_004750.5(CRLF1):c.676dup (p.Thr226fs)
|
rs761746361
|
0.00001
|
NM_004795.4(KL):c.578A>G (p.His193Arg)
|
rs121908423
|
0.00001
|
NM_004937.3(CTNS):c.416C>T (p.Ser139Phe)
|
rs267606754
|
0.00001
|
NM_004937.3(CTNS):c.613G>A (p.Asp205Asn)
|
rs113994208
|
0.00001
|
NM_004937.3(CTNS):c.922G>A (p.Gly308Arg)
|
rs746307931
|
0.00001
|
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp)
|
rs121913529
|
0.00001
|
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp)
|
rs112445441
|
0.00001
|
NM_004985.5(KRAS):c.437C>T (p.Ala146Val)
|
rs1057519725
|
0.00001
|
NM_004985.5(KRAS):c.57G>C (p.Leu19Phe)
|
rs121913538
|
0.00001
|
NM_005120.3(MED12):c.2312T>C (p.Ile771Thr)
|
rs778325168
|
0.00001
|
NM_005120.3(MED12):c.2444G>A (p.Arg815Gln)
|
rs762905361
|
0.00001
|
NM_005120.3(MED12):c.617G>A (p.Arg206Gln)
|
rs2092288110
|
0.00001
|
NM_005247.4(FGF3):c.146A>G (p.Tyr49Cys)
|
rs281860300
|
0.00001
|
NM_005247.4(FGF3):c.283C>T (p.Arg95Trp)
|
rs281860303
|
0.00001
|
NM_005259.3(MSTN):c.373+5G>A
|
rs397515373
|
0.00001
|
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys)
|
rs397518413
|
0.00001
|
NM_005378.6(MYCN):c.-211C>T
|
rs887665529
|
0.00001
|
NM_005476.7(GNE):c.2135T>C (p.Met712Thr)
|
rs28937594
|
0.00001
|
NM_005506.4(SCARB2):c.1187+2dup
|
rs727502783
|
0.00001
|
NM_005506.4(SCARB2):c.1270C>T (p.Arg424Ter)
|
rs886041078
|
0.00001
|
NM_005506.4(SCARB2):c.704+1G>A
|
rs886041076
|
0.00001
|
NM_005506.4(SCARB2):c.704+5G>A
|
rs774271963
|
0.00001
|
NM_005506.4(SCARB2):c.862C>T (p.Gln288Ter)
|
rs121909118
|
0.00001
|
NM_005609.4(PYGM):c.1289C>T (p.Ser430Leu)
|
rs1212604
|
0.00001
|
NM_005609.4(PYGM):c.1365C>T (p.Gly455=)
|
rs1056780
|
0.00001
|
NM_005609.4(PYGM):c.1628A>C (p.Lys543Thr)
|
rs119103252
|
0.00001
|
NM_005609.4(PYGM):c.1827G>A (p.Lys609=)
|
rs119103259
|
0.00001
|
NM_005670.4(EPM2A):c.512G>A (p.Arg171His)
|
rs137852916
|
0.00001
|
NM_005702.4(ERAL1):c.707A>T (p.Asn236Ile)
|
rs1131692170
|
0.00001
|
NM_006096.4(NDRG1):c.442C>T (p.Arg148Ter)
|
rs119483085
|
0.00001
|
NM_006267.5(RANBP2):c.1754C>T (p.Thr585Met)
|
rs121434502
|
0.00001
|
NM_006397.3(RNASEH2A):c.69G>A (p.Val23=)
|
rs397515480
|
0.00001
|
NM_006412.4(AGPAT2):c.202C>T (p.Arg68Ter)
|
rs104894093
|
0.00001
|
NM_006412.4(AGPAT2):c.299G>A (p.Ser100Asn)
|
rs764260414
|
0.00001
|
NM_006412.4(AGPAT2):c.493-1G>C
|
rs606231168
|
0.00001
|
NM_006415.4(SPTLC1):c.431T>A (p.Val144Asp)
|
rs119482083
|
0.00001
|
NM_006432.5(NPC2):c.115G>A (p.Val39Met)
|
rs80358261
|
0.00001
|
NM_006432.5(NPC2):c.141C>A (p.Cys47Ter)
|
rs80358263
|
0.00001
|
NM_006432.5(NPC2):c.190+5G>A
|
rs80358268
|
0.00001
|
NM_006432.5(NPC2):c.295T>C (p.Cys99Arg)
|
rs80358264
|
0.00001
|
NM_006502.3(POLH):c.725C>G (p.Ser242Ter)
|
rs745778317
|
0.00001
|
NM_006502.3(POLH):c.764+1G>A
|
rs772570523
|
0.00001
|
NM_006796.3(AFG3L2):c.2065T>C (p.Tyr689His)
|
rs1598820860
|
0.00001
|
NM_006949.4(STXBP2):c.193C>T (p.Arg65Trp)
|
rs758188545
|
0.00001
|
NM_007055.4(POLR3A):c.1114G>A (p.Asp372Asn)
|
rs267608673
|
0.00001
|
NM_007055.4(POLR3A):c.1301dup (p.Tyr434Ter)
|
rs1376632879
|
0.00001
|
NM_007055.4(POLR3A):c.169G>A (p.Asp57Asn)
|
rs779315061
|
0.00001
|
NM_007055.4(POLR3A):c.1795C>A (p.Gln599Lys)
|
rs1190946400
|
0.00001
|
NM_007055.4(POLR3A):c.1930G>A (p.Glu644Lys)
|
rs755165065
|
0.00001
|
NM_007055.4(POLR3A):c.2015G>A (p.Gly672Glu)
|
rs267608670
|
0.00001
|
NM_007055.4(POLR3A):c.2542T>C (p.Phe848Leu)
|
rs1211210077
|
0.00001
|
NM_007055.4(POLR3A):c.3407G>A (p.Arg1136Gln)
|
rs763270865
|
0.00001
|
NM_007055.4(POLR3A):c.3718G>A (p.Gly1240Ser)
|
rs1003620056
|
0.00001
|
NM_007055.4(POLR3A):c.3991G>A (p.Ala1331Thr)
|
rs267608680
|
0.00001
|
NM_007055.4(POLR3A):c.418C>T (p.Arg140Ter)
|
rs267608678
|
0.00001
|
NM_007055.4(POLR3A):c.496G>A (p.Val166Ile)
|
rs370515749
|
0.00001
|
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln)
|
rs41293459
|
0.00001
|
NM_007375.4(TARDBP):c.1009A>G (p.Met337Val)
|
rs80356730
|
0.00001
|
NM_007375.4(TARDBP):c.859G>A (p.Gly287Ser)
|
rs80356719
|
0.00001
|
NM_007375.4(TARDBP):c.881G>T (p.Gly294Val)
|
rs80356721
|
0.00001
|
NM_012233.3(RAB3GAP1):c.1039C>T (p.Arg347Ter)
|
rs532964185
|
0.00001
|
NM_012414.4(RAB3GAP2):c.1276C>T (p.Arg426Cys)
|
rs587777167
|
0.00001
|
NM_012463.4(ATP6V0A2):c.187C>T (p.Arg63Ter)
|
rs80356750
|
0.00001
|
NM_012463.4(ATP6V0A2):c.2293C>T (p.Gln765Ter)
|
rs80356758
|
0.00001
|
NM_012472.6(DNAAF11):c.220G>C (p.Ala74Pro)
|
rs397514596
|
0.00001
|
NM_012472.6(DNAAF11):c.598_599del (p.Lys200fs)
|
rs397515424
|
0.00001
|
NM_014043.4(CHMP2B):c.556C>T (p.Arg186Ter)
|
rs63751048
|
0.00001
|
NM_014251.3(SLC25A13):c.1078C>T (p.Arg360Ter)
|
rs80338721
|
0.00001
|
NM_014251.3(SLC25A13):c.1177+1G>A
|
rs80338722
|
0.00001
|
NM_014251.3(SLC25A13):c.1311+1G>A
|
rs80338723
|
0.00001
|
NM_014251.3(SLC25A13):c.1638_1660dup (p.Ala554fs)
|
rs80338725
|
0.00001
|
NM_014251.3(SLC25A13):c.1799dup (p.Tyr600Ter)
|
rs80338726
|
0.00001
|
NM_014251.3(SLC25A13):c.1801G>A (p.Glu601Lys)
|
rs80338727
|
0.00001
|
NM_014251.3(SLC25A13):c.550C>T (p.Arg184Ter)
|
rs80338716
|
0.00001
|
NM_014252.4(SLC25A15):c.824G>A (p.Arg275Gln)
|
rs104894431
|
0.00001
|
NM_014297.5(ETHE1):c.187C>T (p.Gln63Ter)
|
rs368778231
|
0.00001
|
NM_014297.5(ETHE1):c.375+5G>A
|
rs769259233
|
0.00001
|
NM_014297.5(ETHE1):c.3G>T (p.Met1Ile)
|
rs119103249
|
0.00001
|
NM_014297.5(ETHE1):c.554T>G (p.Leu185Arg)
|
rs387906987
|
0.00001
|
NM_014363.6(SACS):c.10907G>A (p.Arg3636Gln)
|
rs281865119
|
0.00001
|
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter)
|
rs281865120
|
0.00001
|
NM_014363.6(SACS):c.8844del (p.Ile2949fs)
|
rs281865117
|
0.00001
|
NM_014491.4(FOXP2):c.1789A>C (p.Asn597His)
|
rs766476648
|
0.00001
|
NM_014727.3(KMT2B):c.5336G>A (p.Arg1779Gln)
|
rs779863547
|
0.00001
|
NM_015166.4(MLC1):c.178-10T>A
|
rs80358243
|
0.00001
|
NM_015166.4(MLC1):c.278C>T (p.Ser93Leu)
|
rs80358245
|
0.00001
|
NM_015166.4(MLC1):c.925C>A (p.Leu309Met)
|
rs80358240
|
0.00001
|
NM_015340.4(LARS2):c.1886C>T (p.Thr629Met)
|
rs398123036
|
0.00001
|
NM_015340.4(LARS2):c.880G>A (p.Glu294Lys)
|
rs749627411
|
0.00001
|
NM_015474.4(SAMHD1):c.1411-2A>G
|
rs515726141
|
0.00001
|
NM_015474.4(SAMHD1):c.1642C>T (p.Gln548Ter)
|
rs121434519
|
0.00001
|
NM_015474.4(SAMHD1):c.368A>C (p.His123Pro)
|
rs121434520
|
0.00001
|
NM_015474.4(SAMHD1):c.427C>T (p.Arg143Cys)
|
rs387906948
|
0.00001
|
NM_015474.4(SAMHD1):c.428G>A (p.Arg143His)
|
rs369035155
|
0.00001
|
NM_015474.4(SAMHD1):c.433C>T (p.Arg145Ter)
|
rs121434517
|
0.00001
|
NM_015474.4(SAMHD1):c.625G>A (p.Gly209Ser)
|
rs121434516
|
0.00001
|
NM_015474.4(SAMHD1):c.649_650insG (p.Phe217fs)
|
rs515726146
|
0.00001
|
NM_015488.5(PNKD):c.97G>C (p.Ala33Pro)
|
rs121434513
|
0.00001
|
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter)
|
rs121918241
|
0.00001
|
NM_015512.5(DNAH1):c.3460A>C (p.Lys1154Gln)
|
rs544674332
|
0.00001
|
NM_015713.5(RRM2B):c.253_255del (p.Glu85del)
|
rs515726184
|
0.00001
|
NM_015713.5(RRM2B):c.328C>T (p.Arg110Cys)
|
rs515726186
|
0.00001
|
NM_015713.5(RRM2B):c.362G>A (p.Arg121His)
|
rs267607024
|
0.00001
|
NM_015713.5(RRM2B):c.391G>A (p.Glu131Lys)
|
rs515726188
|
0.00001
|
NM_015713.5(RRM2B):c.431C>T (p.Thr144Ile)
|
rs515726189
|
0.00001
|
NM_015713.5(RRM2B):c.556A>G (p.Arg186Gly)
|
rs515726190
|
0.00001
|
NM_015713.5(RRM2B):c.632G>A (p.Arg211Lys)
|
rs515726195
|
0.00001
|
NM_015713.5(RRM2B):c.97C>T (p.Pro33Ser)
|
rs387906892
|
0.00001
|
NM_016035.5(COQ4):c.190C>T (p.Pro64Ser)
|
rs766317663
|
0.00001
|
NM_016035.5(COQ4):c.421C>T (p.Arg141Ter)
|
rs775607037
|
0.00001
|
NM_016038.4(SBDS):c.377G>C (p.Arg126Thr)
|
rs113993995
|
0.00001
|
NM_016038.4(SBDS):c.505C>T (p.Arg169Cys)
|
rs113993996
|
0.00001
|
NM_016038.4(SBDS):c.652C>T (p.Arg218Ter)
|
rs113993998
|
0.00001
|
NM_016103.4(SAR1B):c.537T>A (p.Ser179Arg)
|
rs28942110
|
0.00001
|
NM_016180.5(SLC45A2):c.563G>T (p.Gly188Val)
|
rs1177355814
|
0.00001
|
NM_016222.4(DDX41):c.121C>T (p.Gln41Ter)
|
rs746278774
|
0.00001
|
NM_016222.4(DDX41):c.455T>G (p.Val152Gly)
|
rs758775538
|
0.00001
|
NM_016222.4(DDX41):c.517G>A (p.Gly173Arg)
|
rs746166328
|
0.00001
|
NM_016222.4(DDX41):c.776A>G (p.Tyr259Cys)
|
rs139780256
|
0.00001
|
NM_016938.5(EFEMP2):c.1226G>A (p.Arg409Gln)
|
rs61893867
|
0.00001
|
NM_016938.5(EFEMP2):c.376G>A (p.Glu126Lys)
|
rs193302867
|
0.00001
|
NM_016938.5(EFEMP2):c.608A>C (p.Asp203Ala)
|
rs193302864
|
0.00001
|
NM_017654.4(SAMD9):c.2944C>T (p.Arg982Cys)
|
rs1247438528
|
0.00001
|
NM_017671.5(FERMT1):c.862C>T (p.Arg288Ter)
|
rs121918294
|
0.00001
|
NM_018082.6(POLR3B):c.1253C>T (p.Ala418Val)
|
rs2037453602
|
0.00001
|
NM_018082.6(POLR3B):c.1324C>T (p.Arg442Cys)
|
rs1442212683
|
0.00001
|
NM_018082.6(POLR3B):c.1464+1G>A
|
rs1158662109
|
0.00001
|
NM_018082.6(POLR3B):c.1857-2A>C
|
rs267608686
|
0.00001
|
NM_018082.6(POLR3B):c.1900G>A (p.Asp634Asn)
|
rs781671613
|
0.00001
|
NM_018082.6(POLR3B):c.1999G>A (p.Val667Met)
|
rs756536922
|
0.00001
|
NM_018082.6(POLR3B):c.2302C>T (p.Arg768Cys)
|
rs371453512
|
0.00001
|
NM_018082.6(POLR3B):c.2570+1G>A
|
rs753943393
|
0.00001
|
NM_018082.6(POLR3B):c.3035T>C (p.Leu1012Pro)
|
rs749670593
|
0.00001
|
NM_018082.6(POLR3B):c.308G>A (p.Arg103His)
|
rs780148992
|
0.00001
|
NM_018136.5(ASPM):c.3796G>T (p.Glu1266Ter)
|
rs199422161
|
0.00001
|
NM_018136.5(ASPM):c.6232C>T (p.Arg2078Ter)
|
rs199422168
|
0.00001
|
NM_018136.5(ASPM):c.8668C>T (p.Gln2890Ter)
|
rs199422181
|
0.00001
|
NM_018136.5(ASPM):c.9697C>T (p.Arg3233Ter)
|
rs199422194
|
0.00001
|
NM_018136.5(ASPM):c.9730C>T (p.Arg3244Ter)
|
rs199422195
|
0.00001
|
NM_018206.6(VPS35):c.1520A>T (p.Tyr507Phe)
|
rs1555465749
|
0.00001
|
NM_018206.6(VPS35):c.1570C>T (p.Arg524Trp)
|
rs184277092
|
0.00001
|
NM_018206.6(VPS35):c.1679T>C (p.Ile560Thr)
|
rs760128592
|
0.00001
|
NM_018206.6(VPS35):c.171G>A (p.Met57Ile)
|
rs183554824
|
0.00001
|
NM_018249.6(CDK5RAP2):c.4103C>T (p.Ser1368Phe)
|
rs41309342
|
0.00001
|
NM_018249.6(CDK5RAP2):c.764C>T (p.Ser255Leu)
|
rs35199933
|
0.00001
|
NM_018297.4(NGLY1):c.930C>T (p.Gly310=)
|
rs745814294
|
0.00001
|
NM_018418.5(SPATA7):c.1183C>T (p.Arg395Ter)
|
rs75895925
|
0.00001
|
NM_018965.4(TREM2):c.233G>A (p.Trp78Ter)
|
rs104893998
|
0.00001
|
NM_018965.4(TREM2):c.377T>G (p.Val126Gly)
|
rs121908402
|
0.00001
|
NM_018972.4(GDAP1):c.347T>G (p.Met116Arg)
|
rs281865060
|
0.00001
|
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp)
|
rs104894078
|
0.00001
|
NM_020247.5(COQ8A):c.1136T>A (p.Leu379Ter)
|
rs747150601
|
0.00001
|
NM_020247.5(COQ8A):c.1523T>C (p.Phe508Ser)
|
rs1057519343
|
0.00001
|
NM_020247.5(COQ8A):c.1541A>G (p.Tyr514Cys)
|
rs119468008
|
0.00001
|
NM_020247.5(COQ8A):c.637C>T (p.Arg213Trp)
|
rs119468005
|
0.00001
|
NM_020347.4(LZTFL1):c.778G>T (p.Glu260Ter)
|
rs515726136
|
0.00001
|
NM_020381.4(PDSS2):c.964C>T (p.Gln322Ter)
|
rs118203955
|
0.00001
|
NM_020533.3(MCOLN1):c.1406A>G (p.Asn469Ser)
|
rs797044818
|
0.00001
|
NM_020533.3(MCOLN1):c.694A>C (p.Thr232Pro)
|
rs767122713
|
0.00001
|
NM_020638.3(FGF23):c.211A>G (p.Ser71Gly)
|
rs104894342
|
0.00001
|
NM_020822.3(KCNT1):c.2782C>T (p.Arg928Cys)
|
rs397515405
|
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_021083.4(XK):c.508+5G>A
|
rs534318896
|
0.00001
|
NM_021252.5(RAB18):c.284C>G (p.Thr95Arg)
|
rs587777151
|
0.00001
|
NM_021625.5(TRPV4):c.1701C>A (p.Tyr567Ter)
|
rs515726156
|
0.00001
|
NM_021625.5(TRPV4):c.2198G>A (p.Trp733Ter)
|
rs200757159
|
0.00001
|
NM_021625.5(TRPV4):c.805C>T (p.Arg269Cys)
|
rs267607146
|
0.00001
|
NM_021625.5(TRPV4):c.943C>T (p.Arg315Trp)
|
rs267607143
|
0.00001
|
NM_021828.5(HPSE2):c.1516C>T (p.Arg506Ter)
|
rs267606866
|
0.00001
|
NM_021830.5(TWNK):c.1172G>A (p.Arg391His)
|
rs556445621
|
0.00001
|
NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser)
|
rs863223921
|
0.00001
|
NM_021830.5(TWNK):c.1321T>G (p.Trp441Gly)
|
rs672601361
|
0.00001
|
NM_021830.5(TWNK):c.1370C>T (p.Thr457Ile)
|
rs80356544
|
0.00001
|
NM_021830.5(TWNK):c.1519G>A (p.Val507Ile)
|
rs369588002
|
0.00001
|
NM_021830.5(TWNK):c.1754A>G (p.Asn585Ser)
|
rs672601360
|
0.00001
|
NM_021830.5(TWNK):c.952G>A (p.Ala318Thr)
|
rs80356542
|
0.00001
|
NM_021926.4(ALX4):c.653G>A (p.Arg218Gln)
|
rs104894193
|
0.00001
|
NM_022336.4(EDAR):c.338G>A (p.Cys113Tyr)
|
rs1475705727
|
0.00001
|
NM_023067.4(FOXL2):c.560G>A (p.Gly187Asp)
|
rs121908359
|
0.00001
|
NM_024312.5(GNPTAB):c.1000C>T (p.Arg334Ter)
|
rs281864969
|
0.00001
|
NM_024312.5(GNPTAB):c.1090C>T (p.Arg364Ter)
|
rs200646278
|
0.00001
|
NM_024312.5(GNPTAB):c.10A>C (p.Lys4Gln)
|
rs34159654
|
0.00001
|
NM_024312.5(GNPTAB):c.1120T>C (p.Phe374Leu)
|
rs137852900
|
0.00001
|
NM_024312.5(GNPTAB):c.1196C>T (p.Ser399Phe)
|
rs281865026
|
0.00001
|
NM_024312.5(GNPTAB):c.1402T>A (p.Cys468Ser)
|
rs281864979
|
0.00001
|
NM_024312.5(GNPTAB):c.1514G>A (p.Cys505Tyr)
|
rs281864980
|
0.00001
|
NM_024312.5(GNPTAB):c.2715+1G>A
|
rs281865031
|
0.00001
|
NM_024312.5(GNPTAB):c.3091C>T (p.Arg1031Ter)
|
rs281865009
|
0.00001
|
NM_024312.5(GNPTAB):c.310C>T (p.Gln104Ter)
|
rs137852896
|
0.00001
|
NM_024312.5(GNPTAB):c.3410T>A (p.Leu1137Ter)
|
rs142065232
|
0.00001
|
NM_024312.5(GNPTAB):c.3565C>T (p.Arg1189Ter)
|
rs137852897
|
0.00001
|
NM_024312.5(GNPTAB):c.44C>A (p.Ser15Tyr)
|
rs281864947
|
0.00001
|
NM_024339.5(THOC6):c.136G>A (p.Gly46Arg)
|
rs587777030
|
0.00001
|
NM_024339.5(THOC6):c.259C>T (p.Arg87Ter)
|
rs763344375
|
0.00001
|
NM_024577.4(SH3TC2):c.2829T>G (p.Tyr943Ter)
|
rs80338932
|
0.00001
|
NM_024580.6(EFL1):c.2645T>A (p.Met882Lys)
|
rs1316615934
|
0.00001
|
NM_024596.5(MCPH1):c.74C>G (p.Ser25Ter)
|
rs121434305
|
0.00001
|
NM_024598.4(USB1):c.243G>A (p.Trp81Ter)
|
rs137853973
|
0.00001
|
NM_024598.4(USB1):c.673C>T (p.Gln225Ter)
|
rs1459714680
|
0.00001
|
NM_024876.4(COQ8B):c.101G>A (p.Trp34Ter)
|
rs1057519345
|
0.00001
|
NM_025137.4(SPG11):c.1457-2A>G
|
rs312262726
|
0.00001
|
NM_025137.4(SPG11):c.1492C>T (p.Gln498Ter)
|
rs312262728
|
0.00001
|
NM_025137.4(SPG11):c.2316+1G>A
|
rs312262740
|
0.00001
|
NM_025137.4(SPG11):c.4307_4308del (p.Gln1436fs)
|
rs312262759
|
0.00001
|
NM_025137.4(SPG11):c.5470C>T (p.Arg1824Ter)
|
rs312262767
|
0.00001
|
NM_025137.4(SPG11):c.5974C>T (p.Arg1992Ter)
|
rs200793464
|
0.00001
|
NM_025137.4(SPG11):c.5986dup (p.Cys1996fs)
|
rs312262775
|
0.00001
|
NM_025137.4(SPG11):c.6856C>T (p.Arg2286Ter)
|
rs312262785
|
0.00001
|
NM_025137.4(SPG11):c.7152-1G>C
|
rs200079802
|
0.00001
|
NM_025265.4(TSEN2):c.926A>G (p.Tyr309Cys)
|
rs113994149
|
0.00001
|
NM_030777.4(SLC2A10):c.1309G>A (p.Glu437Lys)
|
rs763220502
|
0.00001
|
NM_030777.4(SLC2A10):c.1334G>A (p.Gly445Glu)
|
rs753723351
|
0.00001
|
NM_030777.4(SLC2A10):c.685C>T (p.Arg229Ter)
|
rs756457861
|
0.00001
|
NM_030777.4(SLC2A10):c.737G>A (p.Gly246Glu)
|
rs564317065
|
0.00001
|
NM_032229.3(SLITRK6):c.541C>T (p.Arg181Ter)
|
rs587777071
|
0.00001
|
NM_032520.5(GNPTG):c.196C>T (p.Arg66Ter)
|
rs193302848
|
0.00001
|
NM_032520.5(GNPTG):c.316G>A (p.Gly106Ser)
|
rs137852885
|
0.00001
|
NM_032581.4(HYCC1):c.51+1G>A
|
rs72549405
|
0.00001
|
NM_033028.5(BBS4):c.17T>C (p.Val6Ala)
|
rs113994185
|
0.00001
|
NM_033028.5(BBS4):c.18C>T (p.Val6=)
|
rs113994187
|
0.00001
|
NM_033028.5(BBS4):c.20C>T (p.Ala7Val)
|
rs113994186
|
0.00001
|
NM_033028.5(BBS4):c.42A>G (p.Val14=)
|
rs113994181
|
0.00001
|
NM_033028.5(BBS4):c.91A>G (p.Ile31Val)
|
rs113994182
|
0.00001
|
NM_033409.4(SLC52A3):c.106G>A (p.Glu36Lys)
|
rs267606686
|
0.00001
|
NM_033409.4(SLC52A3):c.1296C>A (p.Cys432Ter)
|
rs758570021
|
0.00001
|
NM_033409.4(SLC52A3):c.160G>A (p.Gly54Arg)
|
rs797045191
|
0.00001
|
NM_033409.4(SLC52A3):c.211G>A (p.Glu71Lys)
|
rs267606683
|
0.00001
|
NM_033409.4(SLC52A3):c.224T>C (p.Ile75Thr)
|
rs797045193
|
0.00001
|
NM_033409.4(SLC52A3):c.710C>T (p.Ala237Val)
|
rs773916730
|
0.00001
|
NM_033409.4(SLC52A3):c.935C>T (p.Ala312Val)
|
rs752218005
|
0.00001
|
NM_033629.6(TREX1):c.490C>T (p.Arg164Ter)
|
rs78218009
|
0.00001
|
NM_033629.6(TREX1):c.907A>C (p.Thr303Pro)
|
rs76224909
|
0.00001
|
NM_052845.4(MMAB):c.197-1G>T
|
rs763935916
|
0.00001
|
NM_052989.3(IFT122):c.1483G>A (p.Gly495Arg)
|
rs397515568
|
0.00001
|
NM_054012.4(ASS1):c.257G>A (p.Arg86His)
|
rs575001023
|
0.00001
|
NM_054012.4(ASS1):c.773+49C>T
|
rs763389916
|
0.00001
|
NM_054012.4(ASS1):c.851C>T (p.Thr284Ile)
|
rs886039853
|
0.00001
|
NM_054012.4(ASS1):c.910C>T (p.Arg304Trp)
|
rs121908642
|
0.00001
|
NM_054012.4(ASS1):c.970+5G>A
|
rs372128852
|
0.00001
|
NM_080669.6(SLC46A1):c.954C>G (p.Ser318Arg)
|
rs80338772
|
0.00001
|
NM_138387.4(G6PC3):c.210del (p.Phe71fs)
|
rs769441127
|
0.00001
|
NM_138387.4(G6PC3):c.758G>A (p.Arg253His)
|
rs118203968
|
0.00001
|
NM_139276.3(STAT3):c.1268G>A (p.Arg423Gln)
|
rs113994137
|
0.00001
|
NM_152263.4(TPM3):c.857A>C (p.Ter286Ser)
|
rs199474720
|
0.00001
|
NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys)
|
rs121908285
|
0.00001
|
NM_152906.7(TANGO2):c.460G>A (p.Gly154Arg)
|
rs752298579
|
0.00001
|
NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys)
|
rs150840924
|
0.00001
|
NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys)
|
rs57318642
|
0.00001
|
NM_170707.4(LMNA):c.673C>T (p.Arg225Ter)
|
rs60682848
|
0.00001
|
NM_172107.4(KCNQ2):c.1203T>C (p.Ser401=)
|
rs756007198
|
0.00001
|
NM_172107.4(KCNQ2):c.1382A>C (p.Gln461Pro)
|
rs1057516116
|
0.00001
|
NM_172107.4(KCNQ2):c.1741C>T (p.Arg581Ter)
|
rs118192236
|
0.00001
|
NM_172107.4(KCNQ2):c.1956G>A (p.Pro652=)
|
rs749070370
|
0.00001
|
NM_172107.4(KCNQ2):c.2564C>T (p.Ser855Leu)
|
rs12481082
|
0.00001
|
NM_172107.4(KCNQ2):c.740C>A (p.Ser247Ter)
|
rs74315392
|
0.00001
|
NM_172250.3(MMAA):c.1076G>A (p.Arg359Gln)
|
rs864309731
|
0.00001
|
NM_172250.3(MMAA):c.283C>T (p.Gln95Ter)
|
rs104893846
|
0.00001
|
NM_172250.3(MMAA):c.64C>T (p.Arg22Ter)
|
rs765799472
|
0.00001
|
NM_172250.3(MMAA):c.733+1G>A
|
rs779939886
|
0.00001
|
NM_172250.3(MMAA):c.988C>T (p.Arg330Ter)
|
rs571038432
|
0.00001
|
NM_174936.4(PCSK9):c.1486C>T (p.Arg496Trp)
|
rs374603772
|
0.00001
|
NM_175875.5(SIX5):c.1093G>A (p.Gly365Arg)
|
rs80356463
|
0.00001
|
NM_181882.3(PRX):c.3208C>T (p.Arg1070Ter)
|
rs104894708
|
0.00001
|
NM_182476.3(COQ6):c.1235A>G (p.Tyr412Cys)
|
rs374270071
|
0.00001
|
NM_182476.3(COQ6):c.564G>A (p.Trp188Ter)
|
rs1057519349
|
0.00001
|
NM_182760.4(SUMF1):c.1033C>T (p.Arg345Cys)
|
rs137852852
|
0.00001
|
NM_182760.4(SUMF1):c.1045C>T (p.Arg349Trp)
|
rs137852846
|
0.00001
|
NM_194248.3(OTOF):c.1273C>T (p.Arg425Ter)
|
rs397515582
|
0.00001
|
NM_194248.3(OTOF):c.1544T>C (p.Ile515Thr)
|
rs80356586
|
0.00001
|
NM_194248.3(OTOF):c.2991+1G>A
|
rs80356594
|
0.00001
|
NM_194248.3(OTOF):c.3400C>T (p.Arg1134Ter)
|
rs199848801
|
0.00001
|
NM_194248.3(OTOF):c.4157C>T (p.Thr1386Ile)
|
rs397515600
|
0.00001
|
NM_194248.3(OTOF):c.4819C>T (p.Arg1607Trp)
|
rs397515603
|
0.00001
|
NM_194248.3(OTOF):c.5197G>A (p.Glu1733Lys)
|
rs397515605
|
0.00001
|
NM_194248.3(OTOF):c.5567G>A (p.Arg1856Gln)
|
rs397515608
|
0.00001
|
NM_194248.3(OTOF):c.5712+1G>A
|
rs80356604
|
0.00001
|
NM_198253.3(TERT):c.2080G>A (p.Val694Met)
|
rs121918662
|
0.00001
|
NM_198253.3(TERT):c.2431C>T (p.Arg811Cys)
|
rs199422301
|
0.00001
|
NM_198253.3(TERT):c.2594G>A (p.Arg865His)
|
rs121918666
|
0.00001
|
NM_198253.3(TERT):c.2701C>T (p.Arg901Trp)
|
rs199422304
|
0.00001
|
NM_198576.4(AGRN):c.5023G>A (p.Gly1675Ser)
|
rs764160563
|
0.00001
|
NM_198576.4(AGRN):c.5611G>A (p.Gly1871Arg)
|
rs763818876
|
0.00001
|
NM_198578.4(LRRK2):c.1096G>A (p.Val366Met)
|
rs113065049
|
0.00001
|
NM_198578.4(LRRK2):c.1630A>G (p.Lys544Glu)
|
rs79996249
|
0.00001
|
NM_198578.4(LRRK2):c.1847A>G (p.Lys616Arg)
|
rs281865042
|
0.00001
|
NM_198578.4(LRRK2):c.2611A>G (p.Lys871Glu)
|
rs281865044
|
0.00001
|
NM_198578.4(LRRK2):c.2830G>T (p.Asp944Tyr)
|
rs17519916
|
0.00001
|
NM_198578.4(LRRK2):c.4322G>A (p.Arg1441His)
|
rs34995376
|
0.00001
|
NM_198578.4(LRRK2):c.4337C>T (p.Pro1446Leu)
|
rs74681492
|
0.00001
|
NM_198578.4(LRRK2):c.4448G>A (p.Arg1483Gln)
|
rs113431708
|
0.00001
|
NM_198578.4(LRRK2):c.5174G>A (p.Arg1725Gln)
|
rs72547979
|
0.00001
|
NM_198578.4(LRRK2):c.6035T>C (p.Ile2012Thr)
|
rs34015634
|
0.00001
|
NM_198578.4(LRRK2):c.6091A>T (p.Thr2031Ser)
|
rs78029637
|
0.00001
|
NM_198578.4(LRRK2):c.691T>C (p.Ser231Pro)
|
rs201332859
|
0.00001
|
NM_198578.4(LRRK2):c.713A>T (p.Asn238Ile)
|
rs28365216
|
0.00001
|
NM_198578.4(LRRK2):c.7397T>A (p.Leu2466His)
|
rs281865057
|
0.00001
|
NM_198578.4(LRRK2):c.7435A>G (p.Asn2479Asp)
|
rs55633591
|
0.00001
|
NM_198586.3(NHLRC1):c.76T>A (p.Cys26Ser)
|
rs28940575
|
0.00001
|
NM_199242.3(UNC13D):c.117+143A>G
|
rs931794659
|
0.00001
|
NM_199242.3(UNC13D):c.1596+1G>C
|
rs933702160
|
0.00001
|
NM_199242.3(UNC13D):c.754-1G>C
|
rs753990040
|
0.00001
|
NM_201384.3(PLEC):c.5917C>T (p.Arg1973Trp)
|
rs80338756
|
0.00001
|
NM_203290.4(POLR1C):c.281T>C (p.Val94Ala)
|
rs1305006253
|
0.00001
|
NM_207346.3(TSEN54):c.277T>C (p.Ser93Pro)
|
rs113994151
|
0.00001
|
NM_207352.4(CYP4V2):c.1187C>T (p.Pro396Leu)
|
rs199476202
|
0.00001
|
NM_207352.4(CYP4V2):c.1348C>T (p.Gln450Ter)
|
rs199476204
|
0.00001
|
NM_207352.4(CYP4V2):c.253C>T (p.Arg85Cys)
|
rs199476186
|
0.00001
|
NM_207352.4(CYP4V2):c.283G>A (p.Gly95Arg)
|
rs199476187
|
0.00001
|
NM_207352.4(CYP4V2):c.761A>G (p.His254Arg)
|
rs199476193
|
0.00001
|
NM_207352.4(CYP4V2):c.974C>T (p.Thr325Ile)
|
rs199476196
|
0.00001
|
NM_213595.4(ISCU):c.418+382G>C
|
rs767000507
|
0.00001
|
NM_213599.3(ANO5):c.1295C>G (p.Ala432Gly)
|
rs137854524
|
0.00001
|
NM_213599.3(ANO5):c.1407+5G>A
|
rs281865464
|
0.00001
|
NR_001566.1(TERC):n.35C>T
|
rs199422260
|
0.00001
|
NR_001566.1(TERC):n.450G>A
|
rs199422287
|
0.00001
|
1 bp del G 7
|
|
|
15q13.3
|
|
|
16p11.2 recurrent region (BP4-BP5)
|
|
|
17q21.31 Microdeletion
|
|
|
1p36.33 deletion (0.48 Mb)
|
|
|
2q13 deletion (290 kb)
|
|
|
7q22-q31.3 deletion (15 Mb)
|
|
|
7q22-q31.33, 22 Mb deletion
|
|
|
7q31.1-q31.2, 1.57 Mb deletion
|
|
|
7q31.1-q31.2, 6.5 Mb deletion
|
|
|
7q31.1-q31.2, 9.1 Mb deletion
|
|
|
7q31.1-q31.3, 11 Mb deletion
|
|
|
7q31.1-q31.3, 14.8 Mb deletion
|
|
|
7q31.1-q31.3, 15 Mb deletion
|
|
|
7q31.1-q31.3, 16 Mb deletion
|
|
|
7q31.2-q32, 13 Mb deletion
|
|
|
7q31.2-q32, 14 Mb deletion
|
|
|
7q31.2-q32, 15 Mb deletion
|
|
|
7q31.2-q32, 26 Mb deletion
|
|
|
AF287270:g.511_6943del
|
|
|
GNPTAB:c.1895C>G
|
|
|
GRCh37/hg19 17q12(chr17:34815072-36192492)x1
|
|
|
GRCh37/hg19 3q29(chr3:195756054-197344665)x1
|
|
|
NC_000001.10:g.(155160963_155162030)delinsAT
|
|
|
NC_000001.10:g.(155160963_155162030)dupGCCGGCCCCGGGTCC
|
|
|
NC_000001.10:g.(155160963_155162030)insC
|
|
|
NC_000001.10:g.(155160963_155162030)insG
|
|
|
NC_000001.10:g.(196712876_196712928)_(196797494_196797546)del
|
|
|
NC_000001.10:g.(?_145413072)_(145592772_145596903)del
|
|
|
NC_000001.10:g.227150977_227195656del44680
|
|
|
NC_000004.11:g.3076606GCA[40_?]
|
|
|
NC_000006.12:g.144176889_144196079del
|
|
|
NC_000007.12:g.111781517_120142536del
|
|
|
NC_000007.12:g.112946520_114520576del
|
|
|
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv
|
|
|
NC_000007.13:g.109049659_111130658del
|
|
|
NC_000007.14:g.(45018761_45019059)_(45095530_45095828)del
|
|
|
NC_000008.10:g.(?_6264113)_(6296618_6299587)del
|
|
|
NC_000008.11:g.100151617_100163589del
|
|
|
NC_000009.11:g.136496870_136496871(11_15)
|
rs72191426
|
|
NC_000010.11:g.(93704377_?)_(?_93785620)del
|
|
|
NC_000012.12:g.(1_3750000)_(5250000_9000000)del
|
|
|
NC_000013.11:g.20365207_20496559del
|
|
|
NC_000015.9:g.68504037_68504039delGAT
|
rs121908080
|
|
NC_000016.10:g.172005_177200del
|
|
|
NC_000016.10:g.173384_177187del
|
|
|
NC_000017.11:g.(?_14440201)_(15475424_?)dup
|
|
|
NC_000017.11:g.3600934_3658165del
|
|
|
NC_000017.11:g.4902680_4903969delinsTCTGGATGCG
|
|
|
NC_000018.9(TXNL4A):g.77748604_77748637del34
|
rs786205699
|
|
NC_000018.9:g.73376178_78077248del4701071
|
|
|
NC_000018.9:g.76841645_78077248del1235604
|
|
|
NC_000018.9:g.76854774_78077248del1222475
|
|
|
NC_000018.9:g.77421290_77904990del483701
|
|
|
NC_000018.9:g.77733765C>A
|
rs727502793
|
|
NC_000018.9:g.77748262delA
|
rs727502795
|
|
NC_000018.9:g.77748356G>A
|
rs727502794
|
|
NC_000018.9:g.77748581_77748614del34
|
rs535089924
|
|
NC_000019.10:g.35905884_35911125del
|
|
|
NC_000020.11:g.(36898545_36904156)_(36951644_?)del
|
|
|
NC_000020.11:g.(?_63413450)_(63415126_?)del
|
|
|
NC_000023.11:g.(129551601)_129559858del
|
|
|
NC_000023.11:g.(?_126549383)_(129592556_?)del
|
|
|
NC_000023.11:g.(?_49922616)_(50099235_?)del
|
|
|
NC_012920.1(MT-CO1):m.7023G>A
|
rs2124593767
|
|
NC_012920.1(MT-CO3):m.9957T>C
|
rs1556423753
|
|
NC_012920.1(MT-CYB):m.14864T>C
|
|
|
NC_012920.1(MT-CYB):m.1644G>A
|
rs587776441
|
|
NC_012920.1(MT-ND5):m.13528A>G
|
rs55882959
|
|
NC_012920.1(MT-TH):m.12146A>G
|
rs2124597054
|
|
NC_012920.1(MT-TK):m.8316T>C
|
|
|
NC_012920.1(MT-TL2):m.12299A>C
|
|
|
NC_012920.1(MT-TV):m.1642G>A
|
rs2124591032
|
|
NC_012920.1:m.10254G>A
|
rs587776438
|
|
NC_012920.1:m.11778G>A
|
rs199476112
|
|
NC_012920.1:m.11984T>C
|
rs200911567
|
|
NC_012920.1:m.13514A>G
|
rs587776440
|
|
NC_012920.1:m.14484T>C
|
rs199476104
|
|
NC_012920.1:m.1494C>T
|
rs267606619
|
|
NC_012920.1:m.1555A>G
|
rs267606617
|
|
NC_012920.1:m.1644G>T
|
rs587776441
|
|
NC_012920.1:m.3243A>G
|
rs199474657
|
|
NC_012920.1:m.3291T>C
|
rs869312463
|
|
NC_012920.1:m.3460G>A
|
rs199476118
|
|
NC_012920.1:m.3481G>A
|
rs587776433
|
|
NC_012920.1:m.3890G>A
|
rs587776434
|
|
NC_012920.1:m.3928G>C
|
rs587776442
|
|
NC_012920.1:m.5523T>G
|
rs587776435
|
|
NC_012920.1:m.5559A>G
|
rs1556423008
|
|
NC_012920.1:m.7443A>G
|
rs397507452
|
|
NC_012920.1:m.7444G>A
|
rs199474822
|
|
NC_012920.1:m.7445A>G
|
rs199474818
|
|
NC_012920.1:m.7445A>T
|
rs199474818
|
|
NC_012920.1:m.7462C>T
|
rs1569484151
|
|
NC_012920.1:m.7471dup
|
rs111033319
|
|
NC_012920.1:m.7505T>C
|
rs724159989
|
|
NC_012920.1:m.8483_13459del4977
|
|
|
NC_012920.1:m.8839G>C
|
rs1556423547
|
|
NC_012920.1:m.8851T>C
|
rs199476136
|
|
NC_012920.1:m.8989G>C
|
rs587776444
|
|
NC_012920.1:m.8993T>C
|
rs199476133
|
|
NC_012920.1:m.8993T>G
|
rs199476133
|
|
NC_012920.1:m.9176T>C
|
rs199476135
|
|
NC_012920.1:m.9176T>G
|
rs199476135
|
|
NC_012920.1:m.9185T>C
|
rs199476138
|
|
NC_012920.1:m.9191T>C
|
rs1556423632
|
|
NC_012920.1:m.9478T>C
|
rs587776437
|
|
NG_007159.3:g.(?_162979)_(164232_?)del
|
|
|
NG_008075.1(MPV17):g.16680_18253delinsCCTG
|
|
|
NG_008254.1:g.48570_71295dup22726
|
|
|
NG_008638.1:g.(5550_9683)_(13328_22050)del
|
|
|
NG_011545.1(CSTB):g.4900_4935CCCCGCCCCGCG[30_125]
|
|
|
NG_012383.3:g.(70130_86397)_(87002_255549)del
|
|
|
NG_012383.3:g.(70130_86397)_(87002_255549)dup
|
|
|
NG_012383.3:g.(87002_255549)_(259980_?)del
|
|
|
NG_031977.1:g.(5321_5338)ins(60_?)
|
rs143561967
|
|
NM_000021.4(PSEN1):c.1175T>C (p.Leu392Pro)
|
rs63750218
|
|
NM_000021.4(PSEN1):c.1292C>A (p.Ala431Glu)
|
rs63750083
|
|
NM_000021.4(PSEN1):c.265G>T (p.Val89Leu)
|
rs63750815
|
|
NM_000021.4(PSEN1):c.338T>C (p.Leu113Pro)
|
rs63751399
|
|
NM_000021.4(PSEN1):c.415A>G (p.Met139Val)
|
rs63751037
|
|
NM_000021.4(PSEN1):c.436A>C (p.Met146Leu)
|
rs63750306
|
|
NM_000021.4(PSEN1):c.509C>T (p.Ser170Phe)
|
rs63750577
|
|
NM_000021.4(PSEN1):c.548G>T (p.Gly183Val)
|
rs63751068
|
|
NM_000021.4(PSEN1):c.697A>G (p.Met233Val)
|
rs63751287
|
|
NM_000021.4(PSEN1):c.767A>C (p.Tyr256Ser)
|
rs63751320
|
|
NM_000021.4(PSEN1):c.839A>C (p.Glu280Ala)
|
rs63750231
|
|
NM_000021.4(PSEN1):c.869-1624_956-2452del
|
|
|
NM_000030.3(AGXT):c.32C>T (p.Pro11Leu)
|
rs34116584
|
|
NM_000030.3(AGXT):c.33dup (p.Lys12fs)
|
rs180177201
|
|
NM_000030.3(AGXT):c.738G>A (p.Trp246Ter)
|
rs121908528
|
|
NM_000032.5(ALAS2):c.1699_1700del (p.Met567fs)
|
rs387906473
|
|
NM_000032.5(ALAS2):c.1706_1709del (p.Glu569fs)
|
rs387906472
|
|
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs)
|
rs387906494
|
|
NM_000035.4(ALDOB):c.1005C>G (p.Asn335Lys)
|
rs78340951
|
|
NM_000035.4(ALDOB):c.324+1G>A
|
rs764826805
|
|
NM_000035.4(ALDOB):c.360_363del (p.Asn120fs)
|
rs387906225
|
|
NM_000035.4(ALDOB):c.612T>G (p.Tyr204Ter)
|
rs370793608
|
|
NM_000035.4(ALDOB):c.865del (p.Leu289fs)
|
rs864309533
|
|
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs)
|
rs121913224
|
|
NM_000041.4(APOE):c.497TCC[1] (p.Leu167del)
|
rs515726148
|
|
NM_000044.4(AR):c.172_174CAG(36_37) (p.Gln80_Glu81insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)
|
|
|
NM_000044.4(AR):c.172_174CAG(38_68) (p.Gln80_Glu81insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)
|
|
|
NM_000044.4(AR):c.172_174CAG(7_34) (p.Gln66_Gln80del)
|
|
|
NM_000044.6(AR):c.171GCA[36] (p.Gln68_Gln80dup)
|
rs3032358
|
|
NM_000044.6:c.1363GGT[2_4]GGC[12_29]
|
|
|
NM_000047.3(ARSL):c.410G>T (p.Gly137Val)
|
rs80338711
|
|
NM_000048.4(ASL):c.1060C>T (p.Gln354Ter)
|
rs367543005
|
|
NM_000048.4(ASL):c.346C>T (p.Gln116Ter)
|
rs367543006
|
|
NM_000049.4(ASPA):c.433-2A>G
|
rs63751297
|
|
NM_000049.4(ASPA):c.693C>A (p.Tyr231Ter)
|
rs12948217
|
|
NM_000049.4(ASPA):c.863A>G (p.Tyr288Cys)
|
|
|
NM_000050.4(ASS1):c.[323G>T];[970+5G>A]
|
|
|
NM_000051.4(ATM):c.103C>T (p.Arg35Ter)
|
rs55861249
|
|
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs)
|
rs587779817
|
|
NM_000051.4(ATM):c.1A>G (p.Met1Val)
|
rs730881359
|
|
NM_000051.4(ATM):c.2284_2285del (p.Leu762fs)
|
rs587781658
|
|
NM_000051.4(ATM):c.3894dup (p.Ala1299fs)
|
rs587781823
|
|
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp)
|
rs397514577
|
|
NM_000051.4(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer)
|
rs587782554
|
|
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del)
|
rs587776547
|
|
NM_000051.4(ATM):c.7886_7890del (p.Ile2629fs)
|
rs1450394308
|
|
NM_000052.7(ATP7A):c.2981C>T (p.Thr994Ile)
|
rs267606673
|
|
NM_000052.7(ATP7A):c.4156C>T (p.Pro1386Ser)
|
rs267606672
|
|
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs)
|
rs113993962
|
|
NM_000057.4(BLM):c.2407dup (p.Trp803fs)
|
rs367543012
|
|
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs)
|
rs80359479
|
|
NM_000059.4(BRCA2):c.771_775del (p.Asn257fs)
|
rs80359671
|
|
NM_000069.3(CACNA1S):c.1582C>G (p.Arg528Gly)
|
rs80338778
|
|
NM_000069.3(CACNA1S):c.2627T>A (p.Val876Glu)
|
rs267606698
|
|
NM_000069.3(CACNA1S):c.2691G>T (p.Arg897Ser)
|
rs80338779
|
|
NM_000069.3(CACNA1S):c.2700G>T (p.Arg900Ser)
|
rs2102582533
|
|
NM_000069.3(CACNA1S):c.3715C>G (p.Arg1239Gly)
|
rs28930069
|
|
NM_000069.3(CACNA1S):c.3716G>A (p.Arg1239His)
|
rs28930068
|
|
NM_000070.2(CAPN3):c.643_663del(p.Ser215_Gly221del)
|
rs863224965
|
|
NM_000070.3(CAPN3):c.1193+6T>A
|
rs1555421532
|
|
NM_000070.3(CAPN3):c.1265A>G (p.Gln422Arg)
|
rs2141193741
|
|
NM_000070.3(CAPN3):c.1795dup (p.Thr599fs)
|
rs80338803
|
|
NM_000070.3(CAPN3):c.2051-1G>T
|
rs886042108
|
|
NM_000070.3(CAPN3):c.2362_2363delinsTCATCT (p.Arg788fs)
|
rs1555423217
|
|
NM_000070.3(CAPN3):c.347C>A (p.Ala116Asp)
|
rs2053335268
|
|
NM_000070.3(CAPN3):c.550del (p.Thr184fs)
|
rs80338800
|
|
NM_000070.3(CAPN3):c.946-1G>A
|
rs80338801
|
|
NM_000074.3(CD40LG):c.31C>T (p.Arg11Ter)
|
rs193922135
|
|
NM_000074.3(CD40LG):c.761C>T (p.Thr254Met)
|
rs193922136
|
|
NM_000080.4(CHRNE):c.130dup (p.Glu44fs)
|
rs762368691
|
|
NM_000080.4(CHRNE):c.1327del
|
rs763258280
|
|
NM_000080.4(CHRNE):c.1353dup (p.Asn452fs)
|
rs773526895
|
|
NM_000081.2(LYST):c.7060_7066delCTATTAG
|
rs80338661
|
|
NM_000081.3(LYST):c.9107_9162del (p.Gly3036Glufs)
|
|
|
NM_000081.4(LYST):c.10127A>G (p.Asn3376Ser)
|
rs80338669
|
|
NM_000081.4(LYST):c.10395del (p.Gly3466fs)
|
rs80338670
|
|
NM_000081.4(LYST):c.11102G>T (p.Cys3701Phe)
|
|
|
NM_000081.4(LYST):c.11173G>A (p.Gly3725Arg)
|
|
|
NM_000081.4(LYST):c.118dup (p.Ala40fs)
|
rs80338642
|
|
NM_000081.4(LYST):c.1467del (p.Glu489fs)
|
rs80338644
|
|
NM_000081.4(LYST):c.148C>T (p.Arg50Ter)
|
rs80338643
|
|
NM_000081.4(LYST):c.1540C>T (p.Arg514Ter)
|
rs80338645
|
|
NM_000081.4(LYST):c.1902dup (p.Ala635fs)
|
rs80338646
|
|
NM_000081.4(LYST):c.2413del (p.Glu805fs)
|
rs80338647
|
|
NM_000081.4(LYST):c.2454del (p.Ala819fs)
|
rs80338648
|
|
NM_000081.4(LYST):c.2623del (p.Tyr875fs)
|
rs80338649
|
|
NM_000081.4(LYST):c.3073_3074del (p.Asn1025fs)
|
rs80338650
|
|
NM_000081.4(LYST):c.3085C>T (p.Gln1029Ter)
|
rs80338651
|
|
NM_000081.4(LYST):c.3434dup (p.His1145fs)
|
|
|
NM_000081.4(LYST):c.3622C>T (p.Gln1208Ter)
|
|
|
NM_000081.4(LYST):c.3944dup (p.Val1316fs)
|
|
|
NM_000081.4(LYST):c.4052C>G (p.Ser1351Ter)
|
rs80338654
|
|
NM_000081.4(LYST):c.4274del (p.Leu1425fs)
|
rs80338656
|
|
NM_000081.4(LYST):c.4361C>A (p.Ala1454Asp)
|
rs80338655
|
|
NM_000081.4(LYST):c.4688G>A (p.Arg1563His)
|
rs80338657
|
|
NM_000081.4(LYST):c.5061T>A (p.Tyr1687Ter)
|
rs80338658
|
|
NM_000081.4(LYST):c.5317del (p.Arg1773fs)
|
rs80338659
|
|
NM_000081.4(LYST):c.5506C>T (p.Arg1836Ter)
|
|
|
NM_000081.4(LYST):c.5541_5542del (p.Arg1848fs)
|
|
|
NM_000081.4(LYST):c.5996T>A (p.Val1999Asp)
|
rs28942077
|
|
NM_000081.4(LYST):c.6078C>A (p.Tyr2026Ter)
|
rs80338660
|
|
NM_000081.4(LYST):c.7555del (p.Tyr2519fs)
|
rs80338662
|
|
NM_000081.4(LYST):c.772T>C (p.Cys258Arg)
|
|
|
NM_000081.4(LYST):c.7982C>G (p.Ser2661Ter)
|
|
|
NM_000081.4(LYST):c.8281A>T (p.Arg2761Ter)
|
|
|
NM_000081.4(LYST):c.8428G>A (p.Glu2810Lys)
|
rs80338663
|
|
NM_000081.4(LYST):c.8583G>A (p.Trp2861Ter)
|
rs80338664
|
|
NM_000081.4(LYST):c.9228_9229insTTCTTTCAGT (p.Lys3077delinsPhePheGlnTer)
|
rs80338666
|
|
NM_000081.4(LYST):c.925C>T (p.Arg309Ter)
|
|
|
NM_000081.4(LYST):c.9590del (p.Tyr3197fs)
|
rs80338667
|
|
NM_000081.4(LYST):c.9827_9832del (p.Asn3276_Thr3277del)
|
|
|
NM_000081.4(LYST):c.9893del (p.Phe3298fs)
|
rs80338668
|
|
NM_000083.3(CLCN1):c.1439C>T (p.Pro480Leu)
|
rs80356694
|
|
NM_000083.3(CLCN1):c.2330del (p.Gly777fs)
|
rs80356707
|
|
NM_000083.3(CLCN1):c.382A>G (p.Met128Val)
|
rs80356699
|
|
NM_000083.3(CLCN1):c.689G>A (p.Gly230Glu)
|
rs80356700
|
|
NM_000083.3(CLCN1):c.870C>G (p.Ile290Met)
|
rs80356690
|
|
NM_000088.4(COL1A1):c.934C>T (p.Arg312Cys)
|
rs72645347
|
|
NM_000093.5(COL5A1):c.4916G>C (p.Cys1639Ser)
|
rs80338764
|
|
NM_000094.4(COL7A1):c.2471dup (p.Asn825fs)
|
rs746056280
|
|
NM_000094.4(COL7A1):c.3840del (p.Gly1281fs)
|
rs757688782
|
|
NM_000094.4(COL7A1):c.4919del (p.Gly1640fs)
|
rs1057517722
|
|
NM_000094.4(COL7A1):c.6100G>A (p.Gly2034Arg)
|
rs121912844
|
|
NM_000094.4(COL7A1):c.6127G>A (p.Gly2043Arg)
|
rs121912836
|
|
NM_000095.3(COMP):c.1099_1104del (p.Arg367_Gly368del)
|
rs2145902176
|
|
NM_000095.3(COMP):c.1153G>A (p.Asp385Asn)
|
rs1601054715
|
|
NM_000095.3(COMP):c.1156_1158del (p.Asn386del)
|
rs397515510
|
|
NM_000095.3(COMP):c.1405GAC[4] (p.Asp473del)
|
rs193922900
|
|
NM_000095.3(COMP):c.1405GAC[6] (p.Asp473dup)
|
rs193922900
|
|
NM_000095.3(COMP):c.1569C>G (p.Asn523Lys)
|
rs137852654
|
|
NM_000095.3(COMP):c.1586C>T (p.Thr529Ile)
|
rs312262903
|
|
NM_000095.3(COMP):c.1665C>A (p.Asn555Lys)
|
rs397515511
|
|
NM_000095.3(COMP):c.1747G>A (p.Glu583Lys)
|
rs312262899
|
|
NM_000095.3(COMP):c.1754C>A (p.Thr585Lys)
|
rs312262900
|
|
NM_000095.3(COMP):c.1754C>G (p.Thr585Arg)
|
rs312262900
|
|
NM_000095.3(COMP):c.1754C>T (p.Thr585Met)
|
rs312262900
|
|
NM_000095.3(COMP):c.1760A>G (p.His587Arg)
|
rs312262901
|
|
NM_000095.3(COMP):c.1813G>A (p.Asp605Asn)
|
rs397515512
|
|
NM_000095.3(COMP):c.2042C>G (p.Ser681Cys)
|
rs397515513
|
|
NM_000095.3(COMP):c.2152C>T (p.Arg718Trp)
|
rs28936368
|
|
NM_000095.3(COMP):c.2153G>C (p.Arg718Pro)
|
rs149551600
|
|
NM_000095.3(COMP):c.2155G>A (p.Gly719Ser)
|
rs312262904
|
|
NM_000095.3(COMP):c.2156G>A (p.Gly719Asp)
|
rs137852655
|
|
NM_000096.3(CP):c.1209_1210dupTG (p.Asp404Valfs)
|
rs386134138
|
|
NM_000096.4(CP):c.1123T>C (p.Tyr375His)
|
rs386134128
|
|
NM_000096.4(CP):c.1257_1258del (p.Ser419_Tyr420insTer)
|
rs386134144
|
|
NM_000096.4(CP):c.1282_1286dup (p.Asp430fs)
|
rs386134145
|
|
NM_000096.4(CP):c.146+1G>A
|
rs386134134
|
|
NM_000096.4(CP):c.1865-1G>A
|
rs386134139
|
|
NM_000096.4(CP):c.1874G>A (p.Gly625Glu)
|
rs386134129
|
|
NM_000096.4(CP):c.1918del (p.Asp640fs)
|
rs386134146
|
|
NM_000096.4(CP):c.2066del (p.Pro689fs)
|
rs386134147
|
|
NM_000096.4(CP):c.2068del (p.Asp690fs)
|
rs386134148
|
|
NM_000096.4(CP):c.2131C>A (p.Gln711Lys)
|
rs386134130
|
|
NM_000096.4(CP):c.2185del (p.Leu729fs)
|
rs587777922
|
|
NM_000096.4(CP):c.2389del (p.Glu797fs)
|
rs386134149
|
|
NM_000096.4(CP):c.2482del (p.Ala828fs)
|
rs386134150
|
|
NM_000096.4(CP):c.2511dup (p.Gly838fs)
|
rs386134151
|
|
NM_000096.4(CP):c.2554+1G>T
|
rs386134140
|
|
NM_000096.4(CP):c.2603del (p.Gly868fs)
|
rs386134152
|
|
NM_000096.4(CP):c.2630G>A (p.Trp877Ter)
|
rs121909579
|
|
NM_000096.4(CP):c.2675G>A (p.Gly892Glu)
|
rs386134131
|
|
NM_000096.4(CP):c.2879-1G>A
|
rs386134141
|
|
NM_000096.4(CP):c.2917dup (p.Thr973fs)
|
rs386134154
|
|
NM_000096.4(CP):c.2953A>G (p.Met985Val)
|
rs386134132
|
|
NM_000096.4(CP):c.2962G>A (p.Gly988Ser)
|
rs386134133
|
|
NM_000096.4(CP):c.2991T>G (p.His997Gln)
|
rs34394958
|
|
NM_000096.4(CP):c.3019-1G>A
|
rs386134142
|
|
NM_000096.4(CP):c.493C>G (p.Gln165Glu)
|
rs386134122
|
|
NM_000096.4(CP):c.587C>G (p.Pro196Arg)
|
rs386134124
|
|
NM_000096.4(CP):c.606dup (p.Asp203fs)
|
rs386134143
|
|
NM_000096.4(CP):c.607+1G>A
|
rs386134136
|
|
NM_000096.4(CP):c.650T>C (p.Phe217Ser)
|
rs386134125
|
|
NM_000096.4(CP):c.82A>T (p.Ile28Phe)
|
rs386134121
|
|
NM_000096.4(CP):c.848G>C (p.Trp283Ser)
|
rs386134126
|
|
NM_000098.2(CPT2):c.[1238_1239delAG;1342T>C]
|
|
|
NM_000098.3(CPT2):c.1145G>A (p.Arg382Lys)
|
rs515726176
|
|
NM_000098.3(CPT2):c.1239_1240del (p.Lys414fs)
|
rs397509431
|
|
NM_000098.3(CPT2):c.1737del (p.Ala578_Tyr579insTer)
|
rs515726178
|
|
NM_000098.3(CPT2):c.1883A>C (p.Tyr628Ser)
|
rs28936673
|
|
NM_000098.3(CPT2):c.1925_1937del (p.Lys642fs)
|
rs515726179
|
|
NM_000098.3(CPT2):c.534_558delinsT (p.Leu178_Ile186delinsPhe)
|
rs515726173
|
|
NM_000098.3(CPT2):c.641T>C (p.Met214Thr)
|
rs515726174
|
|
NM_000098.3(CPT2):c.983A>G (p.Asp328Gly)
|
rs515726175
|
|
NM_000100.4(CSTB):c.168+2_168+19del
|
rs312262707
|
|
NM_000100.4(CSTB):c.168+2_168+21delinsAA
|
rs864309482
|
|
NM_000100.4(CSTB):c.168G>A (p.Lys56=)
|
rs386833440
|
|
NM_000100.4(CSTB):c.169-2A>G
|
rs386833441
|
|
NM_000100.4(CSTB):c.212A>C (p.Gln71Pro)
|
rs121909346
|
|
NM_000100.4(CSTB):c.218_219del (p.Leu73fs)
|
rs796943858
|
|
NM_000100.4(CSTB):c.66G>A (p.Gln22=)
|
rs386833443
|
|
NM_000101.4(CYBA):c.467C>A (p.Pro156Gln)
|
rs104894515
|
|
NM_000112.4(SLC26A2):c.1011TGT[3] (p.Val341del)
|
rs121908077
|
|
NM_000112.4(SLC26A2):c.1273A>G (p.Asn425Asp)
|
rs104893920
|
|
NM_000113.3(TOR1A):c.40_45del (p.Ala14_Pro15del)
|
rs886041098
|
|
NM_000113.3(TOR1A):c.581A>T (p.Asp194Val)
|
rs886041099
|
|
NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del)
|
rs80358233
|
|
NM_000113.3(TOR1A):c.934_937del (p.Arg312fs)
|
rs80358234
|
|
NM_000113.3(TOR1A):c.966_983del (p.Phe323_Tyr328del)
|
rs80358235
|
|
NM_000119.2(EPB42):c.929G>A (p.Arg310Gln)
|
rs121917734
|
|
NM_000121.4(EPOR):c.1316G>A (p.Trp439Ter)
|
rs121917830
|
|
NM_000121.4(EPOR):c.1317G>A (p.Trp439Ter)
|
rs121918116
|
|
NM_000132.4(F8):c.3780C>G (p.Asp1260Glu)
|
rs1800291
|
|
NM_000133.4(F9):c.1151G>T (p.Arg384Leu)
|
rs137852283
|
|
NM_000133.4(F9):c.223C>T (p.Arg75Ter)
|
rs137852227
|
|
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs)
|
rs397507552
|
|
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp)
|
rs755546887
|
|
NM_000136.3(FANCC):c.165+1G>T
|
rs794726668
|
|
NM_000136.3(FANCC):c.67del (p.Asp23fs)
|
rs104886459
|
|
NM_000137.4(FAH):c.103G>A (p.Ala35Thr)
|
rs2142090724
|
|
NM_000137.4(FAH):c.424A>G (p.Arg142Gly)
|
rs1420414848
|
|
NM_000137.4(FAH):c.607-6T>G
|
rs80338896
|
|
NM_000137.4(FAH):c.698A>T (p.Asp233Val)
|
rs80338897
|
|
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp)
|
rs79184941
|
|
NM_000141.5(FGFR2):c.755_756delinsTT (p.Ser252Phe)
|
rs121918498
|
|
NM_000141.5(FGFR2):c.756_758delinsCTT (p.Pro253Phe)
|
rs387907372
|
|
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg)
|
rs77543610
|
|
NM_000142.5(FGFR3):c.1043C>G (p.Ser348Cys)
|
rs1044021305
|
|
NM_000142.5(FGFR3):c.1108G>T (p.Gly370Cys)
|
rs121913479
|
|
NM_000142.5(FGFR3):c.1111A>T (p.Ser371Cys)
|
rs121913484
|
|
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys)
|
rs121913485
|
|
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg)
|
rs28931614
|
|
NM_000142.5(FGFR3):c.1138G>C (p.Gly380Arg)
|
rs28931614
|
|
NM_000142.5(FGFR3):c.1620C>A (p.Asn540Lys)
|
rs28933068
|
|
NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys)
|
rs28933068
|
|
NM_000142.5(FGFR3):c.1948A>C (p.Lys650Gln)
|
rs78311289
|
|
NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu)
|
rs78311289
|
|
NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met)
|
rs121913105
|
|
NM_000142.5(FGFR3):c.1950G>T (p.Lys650Asn)
|
rs28928868
|
|
NM_000142.5(FGFR3):c.2419T>A (p.Ter807Arg)
|
rs121913101
|
|
NM_000142.5(FGFR3):c.2419T>C (p.Ter807Arg)
|
rs121913101
|
|
NM_000142.5(FGFR3):c.2419T>G (p.Ter807Gly)
|
rs121913101
|
|
NM_000142.5(FGFR3):c.2420G>T (p.Ter807Leu)
|
rs397515514
|
|
NM_000142.5(FGFR3):c.2421A>C (p.Ter807Cys)
|
rs121913103
|
|
NM_000142.5(FGFR3):c.2421A>G (p.Ter807Trp)
|
rs121913103
|
|
NM_000142.5(FGFR3):c.2421A>T (p.Ter807Cys)
|
rs121913103
|
|
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys)
|
rs121913482
|
|
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys)
|
rs121913483
|
|
NM_000142.5(FGFR3):c.833A>G (p.Tyr278Cys)
|
rs121913115
|
|
NM_000143.4(FH):c.1210G>T (p.Glu404Ter)
|
rs797044974
|
|
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup)
|
rs367543046
|
|
NM_000143.4(FH):c.302G>C (p.Arg101Pro)
|
rs75086406
|
|
NM_000143.4(FH):c.905-1G>A
|
rs797044973
|
|
NM_000146.4(FTL):c.439_442dup (p.His148fs)
|
rs2122435944
|
|
NM_000146.4(FTL):c.442dup (p.His148fs)
|
rs2122435950
|
|
NM_000146.4(FTL):c.458dup (p.His153fs)
|
rs587776840
|
|
NM_000146.4(FTL):c.460dup (p.Arg154fs)
|
rs2122436083
|
|
NM_000146.4(FTL):c.469_484dup (p.Leu162fs)
|
rs398124640
|
|
NM_000146.4(FTL):c.498_499dup (p.Phe167fs)
|
rs1114167274
|
|
NM_000151.4(G6PC1):c.379_380dup (p.Tyr128fs)
|
rs80356488
|
|
NM_000151.4(G6PC1):c.79del (p.Gln27fs)
|
rs80356479
|
|
NM_000152.5(GAA):c.2483_2646+1del
|
rs1555603048
|
|
NM_000153.4(GALC):c.1472del (p.Lys491fs)
|
rs771489305
|
|
NM_000153.4(GALC):c.560A>T (p.Asp187Val)
|
rs997021099
|
|
NM_000153.4(GALC):c.953C>T (p.Pro318Leu)
|
|
|
NM_000155.2(GALT):c.-119_-116delGTCA
|
rs111033640
|
|
NM_000155.2(GALT):c.[-1039_753del;820+50_*789delinsGAATAGACCCCA]
|
|
|
NM_000155.2(GALT):c.[940A>G;-119_-116delGTCA]
|
|
|
NM_000155.3(GALT):c.[652C>T;c.940A>G]
|
|
|
NM_000157.4(GBA1):c.1226A>C (p.Asn409Thr)
|
rs76763715
|
|
NM_000157.4(GBA1):c.1265_1319del (p.Leu422fs)
|
rs80356768
|
|
NM_000157.4(GBA1):c.1343A>T (p.Asp448Val)
|
rs77369218
|
|
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro)
|
rs421016
|
|
NM_000157.4(GBA1):c.254G>A (p.Gly85Glu)
|
rs77829017
|
|
NM_000157.4(GBA1):c.509G>T (p.Arg170Leu)
|
rs80356763
|
|
NM_000158.4(GBE1):c.(992+1_993-1)_(1618+1_1619-1)del (p.Ser331Argfs)
|
|
|
NM_000158.4(GBE1):c.143+1G>A
|
rs397515343
|
|
NM_000158.4(GBE1):c.1543C>T (p.Arg515Cys)
|
rs80338672
|
|
NM_000158.4(GBE1):c.1634A>G (p.His545Arg)
|
rs137852889
|
|
NM_000158.4(GBE1):c.1774G>T (p.Glu592Ter)
|
rs137852890
|
|
NM_000158.4(GBE1):c.691+5G>C
|
rs397515344
|
|
NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser)
|
rs80338671
|
|
NM_000159.4(GCDH):c.541G>C (p.Glu181Gln)
|
rs745852738
|
|
NM_000159.4(GCDH):c.553_570del (p.Gly185_Ser190del)
|
rs1599614265
|
|
NM_000159.4(GCDH):c.91+5G>T
|
rs952356983
|
|
NM_000162.5(GCK):c.1019+2T>G
|
rs193929376
|
|
NM_000162.5(GCK):c.1133C>T (p.Ala378Val)
|
rs193929374
|
|
NM_000162.5(GCK):c.1190G>T (p.Arg397Leu)
|
rs193929375
|
|
NM_000162.5(GCK):c.629T>A (p.Met210Lys)
|
rs80356654
|
|
NM_000162.5(GCK):c.683C>T (p.Thr228Met)
|
rs80356655
|
|
NM_000162.5(GCK):c.790G>A (p.Gly264Ser)
|
rs193929373
|
|
NM_000166.6(GJB1):c.123G>C (p.Glu41Asp)
|
rs116840816
|
|
NM_000166.6(GJB1):c.145T>C (p.Ser49Pro)
|
rs116840817
|
|
NM_000166.6(GJB1):c.164C>T (p.Thr55Ile)
|
rs104894824
|
|
NM_000166.6(GJB1):c.187G>A (p.Val63Ile)
|
rs116840818
|
|
NM_000166.6(GJB1):c.223C>T (p.Arg75Trp)
|
rs116840819
|
|
NM_000166.6(GJB1):c.225del (p.Leu76fs)
|
rs116840820
|
|
NM_000166.6(GJB1):c.407T>C (p.Val136Ala)
|
rs104894826
|
|
NM_000166.6(GJB1):c.43C>T (p.Arg15Trp)
|
rs116840815
|
|
NM_000166.6(GJB1):c.536G>A (p.Cys179Tyr)
|
rs116840822
|
|
NM_000166.6(GJB1):c.556G>A (p.Glu186Lys)
|
rs116840821
|
|
NM_000166.6(GJB1):c.614A>G (p.Asn205Ser)
|
rs104894822
|
|
NM_000168.5(GLI3):c.2770_2771insNC_012920.1:g.12243..12314
|
|
|
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser)
|
rs121964976
|
|
NM_000170.3(GLDC):c.2284G>A (p.Gly762Arg)
|
rs386833550
|
|
NM_000171.3(GLRA1):c.(?_-287)_697+?del
|
|
|
NM_000171.3(GLRA1):c.[1030C>T];[288G>T]
|
|
|
NM_000171.3(GLRA1):c.[1259G>A];[839G>A]
|
|
|
NM_000171.3(GLRA1):c.[298delC];[523A>G]
|
|
|
NM_000171.4(GLRA1):c.690C>A (p.Tyr230Ter)
|
rs121918415
|
|
NM_000171.4(GLRA1):c.737G>A (p.Arg246Gln)
|
rs281864916
|
|
NM_000171.4(GLRA1):c.777C>G (p.Ser259Arg)
|
rs121918417
|
|
NM_000171.4(GLRA1):c.801G>C (p.Trp267Cys)
|
rs281864917
|
|
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.892T>A (p.Ser298Thr)
|
rs281864920
|
|
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>C (p.Tyr307Ser)
|
rs121918410
|
|
NM_000171.4(GLRA1):c.920A>G (p.Tyr307Cys)
|
rs121918410
|
|
NM_000171.4(GLRA1):c.921del (p.Ser306_Tyr307insTer)
|
rs281864921
|
|
NM_000179.3(MSH6):c.1614_1615delinsAG (p.Tyr538_Leu539delinsTer)
|
rs267608049
|
|
NM_000179.3(MSH6):c.2931C>G (p.Tyr977Ter)
|
rs63750111
|
|
NM_000179.3(MSH6):c.2983G>T (p.Glu995Ter)
|
rs63750258
|
|
NM_000179.3(MSH6):c.3959_3962del (p.Ala1320fs)
|
rs267608120
|
|
NM_000179.3(MSH6):c.3984_3987dup (p.Leu1330fs)
|
rs267608121
|
|
NM_000180.4(GUCY2D):c.3233_3236dup (p.His1079fs)
|
rs386834239
|
|
NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu)
|
rs460897
|
|
NM_000187.4(HGD):c.1111dup (p.His371fs)
|
rs397515516
|
|
NM_000187.4(HGD):c.175del (p.Ser59fs)
|
rs397515517
|
|
NM_000187.4(HGD):c.342+1G>A
|
rs397515518
|
|
NM_000187.4(HGD):c.360T>G (p.Cys120Trp)
|
rs149165166
|
|
NM_000187.4(HGD):c.457dup (p.Asp153fs)
|
rs397515346
|
|
NM_000187.4(HGD):c.899T>G (p.Val300Gly)
|
rs120074170
|
|
NM_000193.4(SHH):c.1132_1140del (p.Ala378_Phe380del)
|
rs397515376
|
|
NM_000193.4(SHH):c.1212_1226del (p.Asp405_Gly409del)
|
rs587778786
|
|
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.300G>C (p.Gln100His)
|
rs587778792
|
|
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.38_45del (p.Val13fs)
|
rs587778789
|
|
NM_000193.4(SHH):c.474C>G (p.Tyr158Ter)
|
rs146990376
|
|
NM_000193.4(SHH):c.562G>C (p.Glu188Gln)
|
rs587778799
|
|
NM_000193.4(SHH):c.585G>A (p.Ser195=)
|
rs372353493
|
|
NM_000193.4(SHH):c.625C>T (p.Gln209Ter)
|
rs587778803
|
|
NM_000193.4(SHH):c.671T>A (p.Val224Glu)
|
rs104894042
|
|
NM_000193.4(SHH):c.6_9dup (p.Leu4fs)
|
rs587778788
|
|
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_000195.5(HPS1):c.1189del (p.Gln397fs)
|
rs281865084
|
|
NM_000195.5(HPS1):c.1472_1487dup (p.His497fs)
|
rs281865163
|
|
NM_000195.5(HPS1):c.398+5G>A
|
rs281865077
|
|
NM_000195.5(HPS1):c.972del (p.Met325fs)
|
rs281865082
|
|
NM_000195.5(HPS1):c.972dup (p.Met325fs)
|
rs281865082
|
|
NM_000199.5(SGSH):c.1080del (p.Val361fs)
|
rs770947426
|
|
NM_000202.8(IDS):c.1122C>T (p.Gly374=)
|
rs113993948
|
|
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp)
|
rs199422231
|
|
NM_000202.8(IDS):c.998C>T (p.Ser333Leu)
|
rs104894853
|
|
NM_000203.4(IDUA):c.1960T>G (p.Ter654Gly)
|
rs387906504
|
|
NM_000203.5(IDUA):c.1029C>A (p.Tyr343Ter)
|
rs764196171
|
|
NM_000203.5(IDUA):c.1960T>C (p.Ter654Arg)
|
rs387906504
|
|
NM_000203.5(IDUA):c.590-7G>A
|
rs762411583
|
|
NM_000203.5(IDUA):c.613_617dup (p.Glu207fs)
|
rs786200915
|
|
NM_000206.3(IL2RG):c.664C>T (p.Arg222Cys)
|
rs111033618
|
|
NM_000206.3(IL2RG):c.982C>T (p.Arg328Ter)
|
rs1064793347
|
|
NM_000207.2(INS):c.(?_-191)_(187_?)+1del
|
|
|
NM_000207.2(INS):c.-152C>A
|
rs748749585
|
|
NM_000207.2(INS):c.-187_-164del
|
rs1135401727
|
|
NM_000207.3(INS):c.*59A>G
|
rs397515519
|
|
NM_000207.3(INS):c.-152C>G
|
rs748749585
|
|
NM_000207.3(INS):c.-39A>C
|
rs1554921033
|
|
NM_000207.3(INS):c.127T>G (p.Cys43Gly)
|
rs80356666
|
|
NM_000207.3(INS):c.140G>T (p.Gly47Val)
|
rs80356667
|
|
NM_000207.3(INS):c.143T>G (p.Phe48Cys)
|
rs80356668
|
|
NM_000207.3(INS):c.265C>T (p.Arg89Cys)
|
rs80356669
|
|
NM_000207.3(INS):c.268G>T (p.Gly90Cys)
|
rs80356670
|
|
NM_000207.3(INS):c.287G>A (p.Cys96Tyr)
|
rs80356671
|
|
NM_000207.3(INS):c.323A>G (p.Tyr108Cys)
|
rs80356672
|
|
NM_000207.3(INS):c.3G>A (p.Met1Ile)
|
rs397515521
|
|
NM_000207.3(INS):c.3G>T (p.Met1Ile)
|
rs397515521
|
|
NM_000207.3(INS):c.71C>A (p.Ala24Asp)
|
rs80356663
|
|
NM_000207.3(INS):c.94G>A (p.Gly32Ser)
|
rs80356664
|
|
NM_000207.3(INS):c.94G>C (p.Gly32Arg)
|
rs80356664
|
|
NM_000208.4(INSR):c.167T>C (p.Ile56Thr)
|
rs1555689937
|
|
NM_000208.4(INSR):c.3003_3012delinsGGAAG (p.Ser1001fs)
|
rs1555735951
|
|
NM_000209.4(PDX1):c.188del (p.Pro63fs)
|
rs193929377
|
|
NM_000209.4(PDX1):c.492G>T (p.Glu164Asp)
|
rs80356661
|
|
NM_000209.4(PDX1):c.532G>A (p.Glu178Lys)
|
rs80356662
|
|
NM_000209.4(PDX1):c.533A>G (p.Glu178Gly)
|
rs387906777
|
|
NM_000214.3(JAG1):c.232T>C (p.Cys78Arg)
|
rs1600196455
|
|
NM_000214.3(JAG1):c.232T>G (p.Cys78Gly)
|
rs1600196455
|
|
NM_000214.3(JAG1):c.233G>A (p.Cys78Tyr)
|
rs1555830957
|
|
NM_000214.3(JAG1):c.233G>C (p.Cys78Ser)
|
rs1555830957
|
|
NM_000214.3(JAG1):c.551G>A (p.Arg184His)
|
rs121918351
|
|
NM_000217.3(KCNA1):c.1223T>C (p.Val408Ala)
|
rs104894352
|
|
NM_000217.3(KCNA1):c.676A>G (p.Thr226Ala)
|
rs104894354
|
|
NM_000217.3(KCNA1):c.677C>G (p.Thr226Arg)
|
rs28933383
|
|
NM_000217.3(KCNA1):c.677C>T (p.Thr226Met)
|
rs28933383
|
|
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs)
|
rs397508118
|
|
NM_000227.6(LAMA3):c.151dup (p.Val51fs)
|
rs80356678
|
|
NM_000228.2(LAMB3):c.957_958ins77 (p.?)
|
|
|
NM_000243.3(MEFV):c.1730C>A (p.Thr577Asn)
|
rs1057516210
|
|
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile)
|
rs28940580
|
|
NM_000243.3(MEFV):c.2064C>G (p.Tyr688Ter)
|
rs104895098
|
|
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del)
|
rs104895093
|
|
NM_000243.3(MEFV):c.2078TGA[1] (p.Met694del)
|
rs104895091
|
|
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)
|
rs61732874
|
|
NM_000249.4(MLH1):c.1039-2329_1409+827del
|
|
|
NM_000249.4(MLH1):c.112A>C (p.Asn38His)
|
rs63750580
|
|
NM_000249.4(MLH1):c.1381A>T (p.Lys461Ter)
|
rs63750540
|
|
NM_000249.4(MLH1):c.1489dup (p.Arg497fs)
|
rs63750855
|
|
NM_000249.4(MLH1):c.1558+1G>T
|
rs267607832
|
|
NM_000249.4(MLH1):c.1667+2_1667+8delinsATTT
|
rs587778938
|
|
NM_000249.4(MLH1):c.1731+2247_1897-402del
|
|
|
NM_000249.4(MLH1):c.1731G>A (p.Ser577=)
|
rs63751657
|
|
NM_000249.4(MLH1):c.1758dup (p.Met587fs)
|
rs63749863
|
|
NM_000249.4(MLH1):c.1831_1832del (p.Ile611fs)
|
rs63750150
|
|
NM_000249.4(MLH1):c.1865T>A (p.Leu622His)
|
rs63750693
|
|
NM_000249.4(MLH1):c.2044_2045del (p.Met682fs)
|
rs878853785
|
|
NM_000249.4(MLH1):c.2142G>A (p.Trp714Ter)
|
rs63750978
|
|
NM_000249.4(MLH1):c.2195_2198dup (p.His733fs)
|
rs267607903
|
|
NM_000249.4(MLH1):c.2252_2253del (p.Lys751fs)
|
rs267607901
|
|
NM_000249.4(MLH1):c.2269dup (p.Ter757LeuextTer?)
|
rs1553666143
|
|
NM_000249.4(MLH1):c.306+5G>A
|
rs267607735
|
|
NM_000249.4(MLH1):c.392C>G (p.Ser131Ter)
|
rs63749818
|
|
NM_000249.4(MLH1):c.454-1G>A
|
rs193922370
|
|
NM_000249.4(MLH1):c.545+3A>G
|
rs267607760
|
|
NM_000249.4(MLH1):c.589-2A>G
|
rs267607767
|
|
NM_000249.4(MLH1):c.731G>A (p.Gly244Asp)
|
rs63750303
|
|
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys)
|
rs63751194
|
|
NM_000251.1(MSH2):c.-823_1076+5984del
|
|
|
NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter)
|
rs587779075
|
|
NM_000251.3(MSH2):c.1277-1180_1386+2226delinsCATTCTCTTTGAAAA
|
|
|
NM_000251.3(MSH2):c.1457_1460del (p.Asn486fs)
|
rs1114167806
|
|
NM_000251.3(MSH2):c.1786_1788del (p.Asn596del)
|
rs63749831
|
|
NM_000251.3(MSH2):c.2063T>G (p.Met688Arg)
|
rs63749993
|
|
NM_000251.3(MSH2):c.2152C>T (p.Gln718Ter)
|
rs587779139
|
|
NM_000251.3(MSH2):c.2185_2192delinsCCCT (p.Met729fs)
|
rs2104378383
|
|
NM_000251.3(MSH2):c.388_389del (p.Gln130fs)
|
rs63750704
|
|
NM_000251.3(MSH2):c.[2635-3C>T;2635-5T>C]
|
|
|
NM_000252.3(MTM1):c.1261-10A>G
|
rs397518445
|
|
NM_000255.4(MMUT):c.1097A>G (p.Asn366Ser)
|
rs864309737
|
|
NM_000255.4(MMUT):c.1553T>C (p.Leu518Pro)
|
rs864309738
|
|
NM_000255.4(MMUT):c.19C>T (p.Gln7Ter)
|
rs761773115
|
|
NM_000255.4(MMUT):c.284C>G (p.Pro95Arg)
|
rs190834116
|
|
NM_000255.4(MMUT):c.299A>G (p.Tyr100Cys)
|
rs864309735
|
|
NM_000255.4(MMUT):c.643G>A (p.Gly215Ser)
|
rs121918258
|
|
NM_000255.4(MMUT):c.691T>A (p.Tyr231Asn)
|
rs864309736
|
|
NM_000255.4(MMUT):c.935G>T (p.Gly312Val)
|
rs864309734
|
|
NM_000257.4(MYH7):c.4358T>C (p.Leu1453Pro)
|
rs1246272841
|
|
NM_000257.4(MYH7):c.4679G>C (p.Arg1560Pro)
|
rs730880806
|
|
NM_000257.4(MYH7):c.4844AGA[2] (p.Lys1617del)
|
rs121913648
|
|
NM_000257.4(MYH7):c.5177AGA[3] (p.Lys1729del)
|
rs367543052
|
|
NM_000257.4(MYH7):c.5378_5380del (p.Leu1793del)
|
rs587779396
|
|
NM_000257.4(MYH7):c.5566G>A (p.Glu1856Lys)
|
rs797044598
|
|
NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys)
|
rs397516254
|
|
NM_000257.4(MYH7):c.5807A>G (p.Ter1936Trp)
|
rs367543053
|
|
NM_000260.4(MYO7A):c.223del (p.Asp75fs)
|
rs876657415
|
|
NM_000260.4(MYO7A):c.2283-1G>T
|
rs397516295
|
|
NM_000260.4(MYO7A):c.2311G>T (p.Ala771Ser)
|
rs782384464
|
|
NM_000260.4(MYO7A):c.6557T>C (p.Leu2186Pro)
|
rs876657417
|
|
NM_000263.4(NAGLU):c.1000G>T (p.Val334Phe)
|
rs749140168
|
|
NM_000263.4(NAGLU):c.529C>T (p.Arg177Trp)
|
rs370523900
|
|
NM_000265.7(NCF1):c.75_76del (p.Tyr26fs)
|
rs4029402
|
|
NM_000271.5(NPC1):c.2974G>A (p.Gly992Arg)
|
rs80358254
|
|
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp)
|
rs80358254
|
|
NM_000276.3(OCRL):c.-165-?_*2286+?del
|
|
|
NM_000276.3(OCRL):c.-165-?_199+?del
|
|
|
NM_000276.3(OCRL):c.-165-?_238+?del
|
|
|
NM_000276.4(OCRL):c.1477C>T (p.Arg493Trp)
|
rs137853846
|
|
NM_000276.4(OCRL):c.610_1244+348del
|
|
|
NM_000276.4(OCRL):c.952C>T (p.Arg318Cys)
|
rs137853263
|
|
NM_000278.5(PAX2):c.76dup (p.Val26fs)
|
rs75462234
|
|
NM_000282.4(PCCA):c.1685C>G (p.Ser562Ter)
|
rs202247816
|
|
NM_000282.4(PCCA):c.412G>A (p.Ala138Thr)
|
rs202247814
|
|
NM_000282.4(PCCA):c.491T>C (p.Ile164Thr)
|
rs202247815
|
|
NM_000282.4(PCCA):c.862A>G (p.Arg288Gly)
|
rs121964957
|
|
NM_000285.4(PEPD):c.1103T>G (p.Leu368Arg)
|
rs797045185
|
|
NM_000285.4(PEPD):c.605C>T (p.Ser202Phe)
|
rs267606943
|
|
NM_000285.4(PEPD):c.634G>C (p.Ala212Pro)
|
rs747700126
|
|
NM_000287.4(PEX6):c.2578C>T (p.Arg860Trp)
|
rs61753230
|
|
NM_000288.4(PEX7):c.-45C>T
|
rs267608252
|
|
NM_000288.4(PEX7):c.13_19dup (p.Gly7fs)
|
rs62636519
|
|
NM_000288.4(PEX7):c.40A>C (p.Thr14Pro)
|
rs61753233
|
|
NM_000288.4(PEX7):c.45_52dup (p.His18fs)
|
rs63535662
|
|
NM_000292.3(PHKA2):c.884G>A (p.Arg295His)
|
rs797044877
|
|
NM_000293.3(PHKB):c.1969C>A (p.Gln657Lys)
|
rs34667348
|
|
NM_000295.5(SERPINA1):c.221TCT[2] (p.Phe76del)
|
rs775982338
|
|
NM_000303.3(PMM2):c.415G>A (p.Glu139Lys)
|
rs80338703
|
|
NM_000303.3(PMM2):c.653A>T (p.His218Leu)
|
rs80338705
|
|
NM_000303.3(PMM2):c.677C>G (p.Thr226Ser)
|
rs80338706
|
|
NM_000303.3(PMM2):c.710C>T (p.Thr237Met)
|
rs80338708
|
|
NM_000304.4(PMP22):c.117G>C (p.Trp39Cys)
|
rs797044846
|
|
NM_000304.4(PMP22):c.199G>C (p.Ala67Pro)
|
rs104894623
|
|
NM_000304.4(PMP22):c.281dup (p.Arg95fs)
|
rs80338763
|
|
NM_000304.4(PMP22):c.289del (p.Tyr97fs)
|
rs1597607713
|
|
NM_000304.4(PMP22):c.469C>T (p.Arg157Trp)
|
rs28936682
|
|
NM_000304.4(PMP22):c.47T>C (p.Leu16Pro)
|
rs104894617
|
|
NM_000304.4(PMP22):c.65C>T (p.Ser22Phe)
|
rs104894625
|
|
NM_000304.4(PMP22):c.82T>C (p.Trp28Arg)
|
rs104894626
|
|
NM_000311.3(PRNP):c.204_227del24 (p.Pro84_Gln91del)
|
rs193922906
|
|
NM_000311.5(PRNP):c.154_177[6_13]
|
rs193922906
|
|
NM_000311.5(PRNP):c.305C>T (p.Pro102Leu)
|
rs74315401
|
|
NM_000311.5(PRNP):c.532G>A (p.Asp178Asn)
|
rs74315403
|
|
NM_000311.5(PRNP):c.598G>A (p.Glu200Lys)
|
rs28933385
|
|
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter)
|
rs121909231
|
|
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter)
|
rs121909219
|
|
NM_000334.4(SCN4A):c.2014C>A (p.Arg672Ser)
|
rs80338785
|
|
NM_000334.4(SCN4A):c.2014C>G (p.Arg672Gly)
|
rs80338785
|
|
NM_000334.4(SCN4A):c.2014C>T (p.Arg672Cys)
|
rs80338785
|
|
NM_000334.4(SCN4A):c.2015G>A (p.Arg672His)
|
rs80338788
|
|
NM_000334.4(SCN4A):c.2023C>G (p.Arg675Gly)
|
rs121908556
|
|
NM_000334.4(SCN4A):c.2065C>A (p.Leu689Ile)
|
rs80338955
|
|
NM_000334.4(SCN4A):c.3404G>A (p.Arg1135His)
|
rs527236150
|
|
NM_000334.4(SCN4A):c.4108A>G (p.Met1370Val)
|
rs80338960
|
|
NM_000334.4(SCN4A):c.4325T>A (p.Val1442Glu)
|
rs121908553
|
|
NM_000334.4(SCN4A):c.4342C>A (p.Arg1448Ser)
|
rs121908544
|
|
NM_000334.4(SCN4A):c.4342C>T (p.Arg1448Cys)
|
rs121908544
|
|
NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His)
|
rs121908545
|
|
NM_000334.4(SCN4A):c.4343G>C (p.Arg1448Pro)
|
rs121908545
|
|
NM_000334.4(SCN4A):c.4774A>G (p.Met1592Val)
|
rs80338962
|
|
NM_000334.4(SCN4A):c.664C>G (p.Arg222Gly)
|
|
|
NM_000334.4(SCN4A):c.737C>T (p.Ser246Leu)
|
rs80338951
|
|
NM_000334.4(SCN4A):c.[4468T>C;4479G>A]
|
|
|
NM_000335.5(SCN5A):c.1535C>T (p.Thr512Ile)
|
rs199473118
|
|
NM_000335.5(SCN5A):c.3691C>T (p.Arg1231Trp)
|
rs199473207
|
|
NM_000346.4(SOX9):c.1320C>A (p.Tyr440Ter)
|
rs80338688
|
|
NM_000346.4(SOX9):c.1320C>G (p.Tyr440Ter)
|
rs80338688
|
|
NM_000352.6(ABCC8):c.1144G>A (p.Glu382Lys)
|
rs80356651
|
|
NM_000352.6(ABCC8):c.215A>G (p.Asn72Ser)
|
rs80356634
|
|
NM_000352.6(ABCC8):c.257T>C (p.Val86Ala)
|
rs193929360
|
|
NM_000352.6(ABCC8):c.257T>G (p.Val86Gly)
|
rs193929360
|
|
NM_000352.6(ABCC8):c.3554C>A (p.Ser1185Tyr)
|
rs193929369
|
|
NM_000352.6(ABCC8):c.394T>C (p.Phe132Leu)
|
rs80356637
|
|
NM_000352.6(ABCC8):c.394T>G (p.Phe132Val)
|
rs80356637
|
|
NM_000352.6(ABCC8):c.404T>C (p.Leu135Pro)
|
rs193929364
|
|
NM_000352.6(ABCC8):c.4270A>G (p.Ile1424Val)
|
rs80356653
|
|
NM_000352.6(ABCC8):c.627C>A (p.Asp209Glu)
|
rs80356640
|
|
NM_000352.6(ABCC8):c.631C>A (p.Gln211Lys)
|
rs193929366
|
|
NM_000352.6(ABCC8):c.638T>G (p.Leu213Arg)
|
rs80356642
|
|
NM_000352.6(ABCC8):c.674T>C (p.Leu225Pro)
|
rs1048095
|
|
NM_000370.3(TTPA):c.191A>G (p.Asp64Gly)
|
rs397515523
|
|
NM_000370.3(TTPA):c.205-1G>T
|
rs886040963
|
|
NM_000370.3(TTPA):c.303T>G (p.His101Gln)
|
rs121917849
|
|
NM_000370.3(TTPA):c.487del (p.Trp163fs)
|
rs397515378
|
|
NM_000370.3(TTPA):c.530_531delinsGTAAGT (p.Lys177fs)
|
rs1554605631
|
|
NM_000370.3(TTPA):c.548T>C (p.Leu183Pro)
|
rs397515525
|
|
NM_000370.3(TTPA):c.552+2T>A
|
rs886040964
|
|
NM_000370.3(TTPA):c.736G>C (p.Gly246Arg)
|
rs397515526
|
|
NM_000370.3(TTPA):c.744del (p.Glu249fs)
|
rs397515377
|
|
NM_000374.5(UROD):c.578G>C (p.Arg193Pro)
|
rs143823335
|
|
NM_000374.5(UROD):c.842G>A (p.Gly281Glu)
|
rs121918057
|
|
NM_000375.3(UROS):c.-26-183G>A
|
rs397515349
|
|
NM_000375.3(UROS):c.-26-197C>A
|
rs397515351
|
|
NM_000375.3(UROS):c.139T>C (p.Ser47Pro)
|
rs397515527
|
|
NM_000375.3(UROS):c.197C>T (p.Ala66Val)
|
rs28941774
|
|
NM_000375.3(UROS):c.311C>T (p.Ala104Val)
|
rs397515528
|
|
NM_000380.4(XPA):c.335_338delinsCATAAGAAA (p.Phe112_Met113delinsSerTer)
|
rs886039226
|
|
NM_000381.4(MID1):c.1102C>T (p.Arg368Ter)
|
rs2147287460
|
|
NM_000381.4(MID1):c.829C>T (p.Arg277Ter)
|
rs1555895704
|
|
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
|
|
|
NM_000384.3(APOB):c.10672C>T (p.Arg3558Cys)
|
|
|
NM_000390.4(CHM):c.116+1G>T
|
rs786204761
|
|
NM_000390.4(CHM):c.1218C>A (p.Cys406Ter)
|
rs1556277815
|
|
NM_000390.4(CHM):c.1584_1587del (p.Val529fs)
|
rs587776746
|
|
NM_000390.4(CHM):c.877C>T (p.Arg293Ter)
|
rs132630266
|
|
NM_000397.4(CYBB):c.532A>C (p.Thr178Pro)
|
rs151344497
|
|
NM_000397.4(CYBB):c.692A>C (p.Gln231Pro)
|
rs151344498
|
|
NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp)
|
rs104894161
|
|
NM_000399.5(EGR2):c.1076G>A (p.Arg359Gln)
|
rs281865136
|
|
NM_000399.5(EGR2):c.1142G>A (p.Arg381His)
|
rs281865137
|
|
NM_000399.5(EGR2):c.1146T>G (p.Ser382Arg)
|
rs281865138
|
|
NM_000399.5(EGR2):c.1147G>T (p.Asp383Tyr)
|
rs104894160
|
|
NM_000399.5(EGR2):c.1160C>A (p.Thr387Asn)
|
rs281865139
|
|
NM_000399.5(EGR2):c.1225C>T (p.Arg409Trp)
|
rs104894159
|
|
NM_000399.5(EGR2):c.803T>A (p.Ile268Asn)
|
rs104894158
|
|
NM_000404.4(GLB1):c.152T>C (p.Ile51Thr)
|
rs72555390
|
|
NM_000404.4(GLB1):c.1577dup (p.Trp527fs)
|
rs794729217
|
|
NM_000404.4(GLB1):c.495_497del (p.Leu166del)
|
rs754077128
|
|
NM_000404.4(GLB1):c.817_818delinsCT (p.Trp273Leu)
|
rs1559401428
|
|
NM_000410.4(HFE):c.502G>T (p.Glu168Ter)
|
rs146519482
|
|
NM_000410.4(HFE):c.506G>A (p.Trp169Ter)
|
rs797045145
|
|
NM_000414.4(HSD17B4):c.244G>T (p.Val82Phe)
|
|
|
NM_000414.4(HSD17B4):c.298G>T (p.Ala100Ser)
|
rs1554062352
|
|
NM_000414.4(HSD17B4):c.650A>G (p.Tyr217Cys)
|
rs387906825
|
|
NM_000422.3(KRT17):c.275A>G (p.Asn92Ser)
|
rs59151893
|
|
NM_000424.4(KRT5):c.1429G>A (p.Glu477Lys)
|
rs59190510
|
|
NM_000424.4(KRT5):c.1649del (p.Gly550fs)
|
rs61126080
|
|
NM_000424.4(KRT5):c.74C>T (p.Pro25Leu)
|
rs57499817
|
|
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs)
|
rs202247790
|
|
NM_000426.4(LAMA2):c.7750-1713_7899-2153del
|
|
|
NM_000426.4(LAMA2):c.7881T>G (p.His2627Gln)
|
rs202247792
|
|
NM_000430.4(PAFAH1B1):c.*3G>T
|
rs113994197
|
|
NM_000435.3(NOTCH3):c.3016C>T (p.Arg1006Cys)
|
rs1555727942
|
|
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys)
|
rs137852642
|
|
NM_000435.3(NOTCH3):c.6247A>T (p.Lys2083Ter)
|
rs796065045
|
|
NM_000435.3(NOTCH3):c.6461_6486del (p.Gly2154fs)
|
rs869312909
|
|
NM_000435.3(NOTCH3):c.6498_6577del (p.Ala2167fs)
|
rs1555725043
|
|
NM_000435.3(NOTCH3):c.6663C>G (p.Tyr2221Ter)
|
rs869312911
|
|
NM_000435.3(NOTCH3):c.6692dup (p.Ala2233fs)
|
rs773656789
|
|
NM_000435.3(NOTCH3):c.6732C>A (p.Tyr2244Ter)
|
rs869312910
|
|
NM_000441.2(SLC26A4):c.1540C>A (p.Gln514Lys)
|
rs121908366
|
|
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp)
|
rs111033256
|
|
NM_000447.3(PSEN2):c.422A>T (p.Asn141Ile)
|
rs63750215
|
|
NM_000447.3(PSEN2):c.717G>A (p.Met239Ile)
|
rs63749884
|
|
NM_000459.5(TEK):c.2690A>C (p.Tyr897Ser)
|
rs80338909
|
|
NM_000466.3(PEX1):c.2097dup (p.Ile700fs)
|
rs61750415
|
|
NM_000478.6(ALPL):c.1001G>A (p.Gly334Asp)
|
rs121918009
|
|
NM_000481.4(AMT):c.125A>G (p.His42Arg)
|
rs121964983
|
|
NM_000484.4(APP):c.2010_2011inv (p.Lys670_Met671delinsAsnLeu)
|
rs281865161
|
|
NM_000484.4(APP):c.2075C>G (p.Ala692Gly)
|
rs63750671
|
|
NM_000484.4(APP):c.2078A>G (p.Glu693Gly)
|
rs63751039
|
|
NM_000484.4(APP):c.2149G>A (p.Val717Ile)
|
rs63750264
|
|
NM_000485.3(APRT):c.258_261dup (p.Lys88fs)
|
rs281860265
|
|
NM_000485.3(APRT):c.407T>C (p.Met136Thr)
|
rs28999113
|
|
NM_000487.6(ARSA):c.1232C>T (p.Thr411Ile)
|
rs74315481
|
|
NM_000487.6(ARSA):c.1408_1418del (p.Ala470fs)
|
rs80338823
|
|
NM_000487.6(ARSA):c.302G>A (p.Gly101Asp)
|
rs74315455
|
|
NM_000487.6(ARSA):c.739G>A (p.Gly247Arg)
|
rs74315471
|
|
NM_000489.6(ATRX):c.109C>T (p.Arg37Ter)
|
rs122445108
|
|
NM_000492.3(CFTR):c.1210-12T[5]
|
rs1805177
|
|
NM_000492.3(CFTR):c.1210-12T[9]
|
rs1805177
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
NM_000492.3(CFTR):c.3963-78_4242+577del
|
|
|
NM_000492.3(CFTR):c.54-5940_273+10250del
|
|
|
NM_000492.3:c.1210-12T[(5_9)]
|
|
|
NM_000492.4(CFTR):c.1040G>C (p.Arg347Pro)
|
rs77932196
|
|
NM_000492.4(CFTR):c.1210-12=
|
rs1805177
|
|
NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu)
|
rs74551128
|
|
NM_000492.4(CFTR):c.1516ATC[1] (p.Ile507del)
|
rs121908745
|
|
NM_000492.4(CFTR):c.2052del (p.Lys684fs)
|
rs121908746
|
|
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln)
|
rs1800076
|
|
NM_000492.4(CFTR):c.350G>A (p.Arg117His)
|
rs78655421
|
|
NM_000492.4(CFTR):c.3528del (p.Lys1177fs)
|
rs78984783
|
|
NM_000500.5(CYP21A2):c.[701T>A;713T>A;719T>A]
|
|
|
NM_000500.9(CYP21A2):c.1482C>T (p.Ser494=)
|
rs397515529
|
|
NM_000500.9(CYP21A2):c.17TGC[6] (p.Leu10dup)
|
rs61338903
|
|
NM_000500.9(CYP21A2):c.293-13C>G
|
rs6467
|
|
NM_000500.9(CYP21A2):c.332_339del (p.Gly111fs)
|
rs387906510
|
|
NM_000500.9(CYP21A2):c.552C>G (p.Asp184Glu)
|
rs397515531
|
|
NM_000500.9(CYP21A2):c.844G>C (p.Val282Leu)
|
rs6471
|
|
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu)
|
rs6471
|
|
NM_000500.9(CYP21A2):c.923dup (p.Leu308fs)
|
rs267606756
|
|
NM_000506.5(F2):c.1621C>T (p.Arg541Trp)
|
rs886048338
|
|
NM_000506.5(F2):c.1787G>T (p.Arg596Leu)
|
rs387907201
|
|
NM_000512.5(GALNS):c.1519T>C (p.Cys507Arg)
|
rs1567509070
|
|
NM_000512.5(GALNS):c.29G>A (p.Trp10Ter)
|
rs1967945316
|
|
NM_000512.5(GALNS):c.612C>G (p.Asn204Lys)
|
rs118204435
|
|
NM_000516.7(GNAS):c.432+1G>A
|
rs1555889131
|
|
NM_000516.7(GNAS):c.493C>T (p.Arg165Cys)
|
rs137854532
|
|
NM_000516.7(GNAS):c.565_568del (p.Asp189fs)
|
rs587776829
|
|
NM_000516.7(GNAS):c.601C>A (p.Arg201Ser)
|
rs11554273
|
|
NM_000516.7(GNAS):c.601C>G (p.Arg201Gly)
|
rs11554273
|
|
NM_000516.7(GNAS):c.602G>T (p.Arg201Leu)
|
rs121913495
|
|
NM_000516.7(GNAS):c.679C>A (p.Gln227Lys)
|
rs797045203
|
|
NM_000516.7(GNAS):c.680A>G (p.Gln227Arg)
|
rs121913494
|
|
NM_000516.7(GNAS):c.680A>T (p.Gln227Leu)
|
rs121913494
|
|
NM_000516.7(GNAS):c.681G>T (p.Gln227His)
|
rs137854533
|
|
NM_000517.4:c.[-2_-3delAC;-alpha3.7]
|
|
|
NM_000517.4:c.[339C>G;340_351delCTCCCCGCCGAG]
|
|
|
NM_000517.6(HBA2):c.*94A>G
|
rs63751269
|
|
NM_000517.6(HBA2):c.207C>G (p.Asn69Lys)
|
rs111033601
|
|
NM_000517.6(HBA2):c.2T>C (p.Met1Thr)
|
rs111033603
|
|
NM_000517.6(HBA2):c.377T>C (p.Leu126Pro)
|
rs41397847
|
|
NM_000517.6(HBA2):c.94_95del (p.Arg32fs)
|
rs1057519637
|
|
NM_000517.6(HBA2):c.95+2_95+6del
|
rs41474145
|
|
NM_000518.4(HBB):c.-136C>G
|
rs33994806
|
|
NM_000518.4(HBB):c.-137C>T
|
rs33941377
|
|
NM_000518.4(HBB):c.-80T>A
|
rs33980857
|
|
NM_000518.4(HBB):c.364G>A (p.Glu122Lys)
|
rs33946267
|
|
NM_000518.4(HBB):c.364G>C (p.Glu122Gln)
|
rs33946267
|
|
NM_000518.5(HBB):c.*113A>G
|
rs33985472
|
|
NM_000518.5(HBB):c.*6C>G
|
rs34809925
|
|
NM_000518.5(HBB):c.-137C>G
|
rs33941377
|
|
NM_000518.5(HBB):c.-138C>A
|
rs33944208
|
|
NM_000518.5(HBB):c.-142C>T
|
rs34883338
|
|
NM_000518.5(HBB):c.-18C>G
|
rs34135787
|
|
NM_000518.5(HBB):c.-29G>A
|
rs34704828
|
|
NM_000518.5(HBB):c.-41del
|
rs35352549
|
|
NM_000518.5(HBB):c.-50A>C
|
rs34305195
|
|
NM_000518.5(HBB):c.-81A>G
|
rs33981098
|
|
NM_000518.5(HBB):c.126_129del (p.Phe42fs)
|
rs80356821
|
|
NM_000518.5(HBB):c.135del (p.Phe46fs)
|
rs80356820
|
|
NM_000518.5(HBB):c.27dup (p.Ser10fs)
|
rs35699606
|
|
NM_000518.5(HBB):c.316-2A>C
|
rs33914668
|
|
NM_000518.5(HBB):c.316-7C>G
|
rs34483965
|
|
NM_000518.5(HBB):c.59A>G (p.Asn20Ser)
|
rs33972047
|
|
NM_000518.5(HBB):c.72T>A (p.Val24=)
|
rs2133589317
|
|
NM_000525.4(KCNJ11):c.1001G>A (p.Gly334Asp)
|
rs193929358
|
|
NM_000525.4(KCNJ11):c.103T>C (p.Phe35Leu)
|
rs193929333
|
|
NM_000525.4(KCNJ11):c.103T>G (p.Phe35Val)
|
rs193929333
|
|
NM_000525.4(KCNJ11):c.124T>C (p.Cys42Arg)
|
rs80356610
|
|
NM_000525.4(KCNJ11):c.149G>C (p.Arg50Pro)
|
rs80356611
|
|
NM_000525.4(KCNJ11):c.155A>G (p.Gln52Arg)
|
rs193929337
|
|
NM_000525.4(KCNJ11):c.157G>A (p.Gly53Ser)
|
rs80356613
|
|
NM_000525.4(KCNJ11):c.157G>C (p.Gly53Arg)
|
rs80356613
|
|
NM_000525.4(KCNJ11):c.158G>A (p.Gly53Asp)
|
rs80356615
|
|
NM_000525.4(KCNJ11):c.175G>A (p.Val59Met)
|
rs80356616
|
|
NM_000525.4(KCNJ11):c.176T>G (p.Val59Gly)
|
rs80356617
|
|
NM_000525.4(KCNJ11):c.497G>A (p.Cys166Tyr)
|
rs80356618
|
|
NM_000525.4(KCNJ11):c.497G>T (p.Cys166Phe)
|
rs80356618
|
|
NM_000525.4(KCNJ11):c.499A>C (p.Ile167Leu)
|
rs80356620
|
|
NM_000525.4(KCNJ11):c.509A>G (p.Lys170Arg)
|
rs80356621
|
|
NM_000525.4(KCNJ11):c.510G>C (p.Lys170Asn)
|
rs80356622
|
|
NM_000525.4(KCNJ11):c.544A>G (p.Ile182Val)
|
rs193929348
|
|
NM_000525.4(KCNJ11):c.601C>T (p.Arg201Cys)
|
rs80356625
|
|
NM_000525.4(KCNJ11):c.602G>A (p.Arg201His)
|
rs80356624
|
|
NM_000525.4(KCNJ11):c.602G>T (p.Arg201Leu)
|
rs80356624
|
|
NM_000525.4(KCNJ11):c.755T>C (p.Val252Ala)
|
rs193929352
|
|
NM_000525.4(KCNJ11):c.886A>C (p.Ile296Leu)
|
rs193929353
|
|
NM_000525.4(KCNJ11):c.886A>G (p.Ile296Val)
|
rs193929353
|
|
NM_000525.4(KCNJ11):c.964G>A (p.Glu322Lys)
|
rs193929355
|
|
NM_000525.4(KCNJ11):c.989A>G (p.Tyr330Cys)
|
rs193929356
|
|
NM_000525.4(KCNJ11):c.997T>A (p.Phe333Ile)
|
rs193929357
|
|
NM_000526.5(KRT14):c.356T>C (p.Met119Thr)
|
rs28928893
|
|
NM_000526.5(KRT14):c.368A>G (p.Asn123Ser)
|
rs60171927
|
|
NM_000526.5(KRT14):c.373C>T (p.Arg125Cys)
|
rs60399023
|
|
NM_000526.5(KRT14):c.374G>A (p.Arg125His)
|
rs58330629
|
|
NM_000528.4(MAN2B1):c.2165+1G>A
|
rs80338679
|
|
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp)
|
rs80338680
|
|
NM_000530.6(MPZ):c.[241C>T;337G>T]
|
|
|
NM_000530.8(MPZ):c.131C>T (p.Ser44Phe)
|
rs121913598
|
|
NM_000530.8(MPZ):c.164G>T (p.Ser55Ile)
|
rs281865133
|
|
NM_000530.8(MPZ):c.175T>A (p.Ser59Thr)
|
rs281865122
|
|
NM_000530.8(MPZ):c.181G>A (p.Asp61Asn)
|
rs797044845
|
|
NM_000530.8(MPZ):c.224A>T (p.Asp75Val)
|
rs121913597
|
|
NM_000530.8(MPZ):c.241C>T (p.His81Tyr)
|
rs281865123
|
|
NM_000530.8(MPZ):c.242A>G (p.His81Arg)
|
rs121913594
|
|
NM_000530.8(MPZ):c.244T>C (p.Tyr82His)
|
rs281865124
|
|
NM_000530.8(MPZ):c.266T>C (p.Ile89Thr)
|
rs267607244
|
|
NM_000530.8(MPZ):c.306del (p.Asp104fs)
|
rs281865125
|
|
NM_000530.8(MPZ):c.337G>T (p.Val113Phe)
|
rs281865126
|
|
NM_000530.8(MPZ):c.347A>G (p.Asn116Ser)
|
rs281865130
|
|
NM_000530.8(MPZ):c.371C>T (p.Thr124Met)
|
rs121913595
|
|
NM_000530.8(MPZ):c.389A>G (p.Lys130Arg)
|
rs281865127
|
|
NM_000530.8(MPZ):c.393C>A (p.Asn131Lys)
|
rs121913599
|
|
NM_000530.8(MPZ):c.487G>A (p.Gly163Arg)
|
rs281865128
|
|
NM_000530.8(MPZ):c.499G>A (p.Gly167Arg)
|
rs121913586
|
|
NM_000530.8(MPZ):c.499G>C (p.Gly167Arg)
|
rs121913586
|
|
NM_000530.8(MPZ):c.588dup (p.Met197fs)
|
rs281865129
|
|
NM_000530.8(MPZ):c.645+1G>T
|
rs281865131
|
|
NM_000530.8(MPZ):c.649C>T (p.Pro217Ser)
|
rs281865132
|
|
NM_000530.8(MPZ):c.670G>T (p.Asp224Tyr)
|
rs267607247
|
|
NM_000530.8(MPZ):c.89T>C (p.Ile30Thr)
|
rs281865121
|
|
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs)
|
rs397507445
|
|
NM_000532.5(PCCB):c.1534C>T (p.Arg512Cys)
|
rs186710233
|
|
NM_000532.5(PCCB):c.1538_1540dup (p.Ala513_Arg514insPro)
|
rs202247821
|
|
NM_000532.5(PCCB):c.280G>T (p.Gly94Ter)
|
rs202247817
|
|
NM_000532.5(PCCB):c.335G>A (p.Gly112Asp)
|
rs202247818
|
|
NM_000532.5(PCCB):c.457G>C (p.Ala153Pro)
|
rs202247819
|
|
NM_000532.5(PCCB):c.862G>A (p.Val288Ile)
|
rs201984177
|
|
NM_000533.5(PLP1):c.453+159G>A
|
rs1602383261
|
|
NM_000533.5(PLP1):c.453+164G>A
|
rs1602383268
|
|
NM_000533.5(PLP1):c.454-312C>G
|
rs1602383723
|
|
NM_000535.7(PMS2):c.2002A>G (p.Ile668Val)
|
rs869320619
|
|
NM_000535.7(PMS2):c.903G>T (p.Lys301Asn)
|
rs267608153
|
|
NM_000535.7(PMS2):c.989-1G>T
|
rs587780064
|
|
NM_000535.7(PMS2):c.989-296_1144+706del
|
|
|
NM_000540.3(RYR1):c.10100A>G (p.Lys3367Arg)
|
rs118192126
|
|
NM_000540.3(RYR1):c.10817T>C (p.Leu3606Pro)
|
rs118192127
|
|
NM_000540.3(RYR1):c.1205T>C (p.Met402Thr)
|
rs118192117
|
|
NM_000540.3(RYR1):c.1209C>G (p.Ile403Met)
|
rs118192116
|
|
NM_000540.3(RYR1):c.1280C>T (p.Ser427Leu)
|
rs118192118
|
|
NM_000540.3(RYR1):c.12986C>A (p.Ala4329Asp)
|
rs118192129
|
|
NM_000540.3(RYR1):c.13480G>T (p.Glu4494Ter)
|
rs143849895
|
|
NM_000540.3(RYR1):c.13703T>C (p.Leu4568Pro)
|
rs118192131
|
|
NM_000540.3(RYR1):c.13891T>A (p.Tyr4631Asn)
|
rs118192132
|
|
NM_000540.3(RYR1):c.13900G>A (p.Glu4634Lys)
|
rs118192133
|
|
NM_000540.3(RYR1):c.13910C>T (p.Thr4637Ile)
|
rs118192134
|
|
NM_000540.3(RYR1):c.13912G>A (p.Gly4638Ser)
|
rs118192136
|
|
NM_000540.3(RYR1):c.13913G>A (p.Gly4638Asp)
|
rs118192135
|
|
NM_000540.3(RYR1):c.13949T>C (p.Leu4650Pro)
|
rs118192138
|
|
NM_000540.3(RYR1):c.13952A>C (p.His4651Pro)
|
rs118192139
|
|
NM_000540.3(RYR1):c.14378T>C (p.Leu4793Pro)
|
rs118192179
|
|
NM_000540.3(RYR1):c.14387A>G (p.Tyr4796Cys)
|
rs118192167
|
|
NM_000540.3(RYR1):c.14440C>T (p.Leu4814Phe)
|
rs118192142
|
|
NM_000540.3(RYR1):c.14473C>T (p.Arg4825Cys)
|
rs118192180
|
|
NM_000540.3(RYR1):c.14537C>T (p.Ala4846Val)
|
rs118192143
|
|
NM_000540.3(RYR1):c.14572A>G (p.Asn4858Asp)
|
rs118192144
|
|
NM_000540.3(RYR1):c.14581C>T (p.Arg4861Cys)
|
rs118192181
|
|
NM_000540.3(RYR1):c.14591A>G (p.Tyr4864Cys)
|
rs118192146
|
|
NM_000540.3(RYR1):c.14659C>T (p.His4887Tyr)
|
rs118192147
|
|
NM_000540.3(RYR1):c.14671G>C (p.Gly4891Arg)
|
rs118192149
|
|
NM_000540.3(RYR1):c.14677C>T (p.Arg4893Trp)
|
rs118192150
|
|
NM_000540.3(RYR1):c.14678G>A (p.Arg4893Gln)
|
rs118192151
|
|
NM_000540.3(RYR1):c.14678G>C (p.Arg4893Pro)
|
rs118192151
|
|
NM_000540.3(RYR1):c.14690G>T (p.Gly4897Val)
|
rs118192148
|
|
NM_000540.3(RYR1):c.14696G>A (p.Gly4899Glu)
|
rs118192183
|
|
NM_000540.3(RYR1):c.14717C>T (p.Ala4906Val)
|
rs118192153
|
|
NM_000540.3(RYR1):c.14740A>G (p.Arg4914Gly)
|
rs118192184
|
|
NM_000540.3(RYR1):c.14741G>C (p.Arg4914Thr)
|
rs118192154
|
|
NM_000540.3(RYR1):c.14759C>A (p.Thr4920Asn)
|
rs118192155
|
|
NM_000540.3(RYR1):c.14762T>C (p.Phe4921Ser)
|
rs118192156
|
|
NM_000540.3(RYR1):c.14773GTCATC[1] (p.4925VI[1])
|
rs193922893
|
|
NM_000540.3(RYR1):c.14814C>G (p.Ile4938Met)
|
rs118192159
|
|
NM_000540.3(RYR1):c.1534G>A (p.Glu512Lys)
|
rs118192119
|
|
NM_000540.3(RYR1):c.212C>A (p.Ser71Tyr)
|
rs118192113
|
|
NM_000540.3(RYR1):c.5333C>A (p.Ser1778Ter)
|
rs367543055
|
|
NM_000540.3(RYR1):c.5495G>C (p.Gly1832Ala)
|
rs193922784
|
|
NM_000540.3(RYR1):c.6104A>T (p.His2035Leu)
|
rs367543056
|
|
NM_000540.3(RYR1):c.644G>A (p.Gly215Glu)
|
rs118192115
|
|
NM_000540.3(RYR1):c.6488G>A (p.Arg2163His)
|
rs118192163
|
|
NM_000540.3(RYR1):c.6847A>C (p.Asn2283His)
|
rs118192121
|
|
NM_000540.3(RYR1):c.7354C>T (p.Arg2452Trp)
|
rs118192124
|
|
NM_000540.3(RYR1):c.7358T>C (p.Ile2453Thr)
|
rs118192123
|
|
NM_000540.3(RYR1):c.738T>G (p.Tyr246Ter)
|
rs367543054
|
|
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys)
|
rs118192178
|
|
NM_000540.3(RYR1):c.7635G>C (p.Glu2545Asp)
|
rs193922820
|
|
NM_000540.3(RYR1):c.7648C>G (p.Leu2550Val)
|
rs193922821
|
|
NM_000540.3(RYR1):c.8816G>A (p.Arg2939Lys)
|
rs118192125
|
|
NM_000540.3(RYR1):c.9000+1G>T
|
rs111364670
|
|
NM_000540.3(RYR1):c.9978C>A (p.Asn3326Lys)
|
rs367543057
|
|
NM_000543.5(SMPD1):c.1076C>A (p.Ala359Asp)
|
rs797044800
|
|
NM_000543.5(SMPD1):c.1734G>C (p.Lys578Asn)
|
rs747342458
|
|
NM_000543.5(SMPD1):c.1826GCC[1] (p.Arg610del)
|
rs120074118
|
|
NM_000543.5(SMPD1):c.416T>C (p.Leu139Pro)
|
rs797044797
|
|
NM_000543.5(SMPD1):c.592G>C (p.Ala198Pro)
|
rs797044798
|
|
NM_000543.5(SMPD1):c.874C>A (p.Gln292Lys)
|
rs797044799
|
|
NM_000543.5(SMPD1):c.996del (p.Phe333fs)
|
rs387906289
|
|
NM_000548.5(TSC2):c.1864C>T (p.Arg622Trp)
|
rs397514914
|
|
NM_000548.5(TSC2):c.2714G>A (p.Arg905Gln)
|
rs45517259
|
|
NM_000548.5(TSC2):c.3106T>C (p.Ser1036Pro)
|
rs45517281
|
|
NM_000548.5(TSC2):c.4508A>C (p.Gln1503Pro)
|
rs45516293
|
|
NM_000548.5(TSC2):c.4735G>A (p.Gly1579Ser)
|
rs45503995
|
|
NM_000552.5(VWF):c.2435del (p.Pro812fs)
|
rs62643632
|
|
NM_000552.5(VWF):c.3614G>A (p.Arg1205His)
|
rs121964895
|
|
NM_000552.5(VWF):c.3797C>A (p.Pro1266Gln)
|
rs61749370
|
|
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu)
|
rs61749370
|
|
NM_000552.5(VWF):c.3916C>T (p.Arg1306Trp)
|
rs61749384
|
|
NM_000552.5(VWF):c.3923G>T (p.Arg1308Leu)
|
rs61749388
|
|
NM_000552.5(VWF):c.3946G>A (p.Val1316Met)
|
rs61749397
|
|
NM_000552.5(VWF):c.4022G>A (p.Arg1341Gln)
|
rs61749403
|
|
NM_000552.5(VWF):c.4273A>T (p.Ile1425Phe)
|
rs61750083
|
|
NM_000552.5(VWF):c.4517C>T (p.Ser1506Leu)
|
rs61750100
|
|
NM_000552.5(VWF):c.4789C>T (p.Arg1597Trp)
|
rs61750117
|
|
NM_000553.6(WRN):c.2089-3024A>G
|
rs281865157
|
|
NM_000553.6(WRN):c.2179dup (p.Cys727fs)
|
rs281865158
|
|
NM_000553.6(WRN):c.3139-1G>C
|
rs113993961
|
|
NM_000553.6(WRN):c.3460-2A>C
|
rs281865159
|
|
NM_000553.6(WRN):c.3590del (p.Asn1197fs)
|
rs281865160
|
|
NM_000554.6(CRX):c.529del (p.Ala177fs)
|
rs61748449
|
|
NM_000558.5(HBA1):c.207C>A (p.Asn69Lys)
|
rs1060339
|
|
NM_000558.5(HBA1):c.223G>C (p.Asp75His)
|
rs28928875
|
|
NM_000602.4(SERPINE1):c.-820_-817G(4_5)
|
rs1799762
|
|
NM_000602.5(SERPINE1):c.356dup (p.Ile120fs)
|
rs1554362148
|
|
NM_000602.5(SERPINE1):c.699_700dup (p.Thr234fs)
|
rs1194865614
|
|
NM_000639.3(FASLG):c.203dup (p.Pro69fs)
|
rs2101806549
|
|
NM_000639.3(FASLG):c.263del (p.Phe88fs)
|
rs587776450
|
|
NM_000639.3(FASLG):c.473_556del (p.Met158_Glu185del)
|
rs80358236
|
|
NM_000639.3(FASLG):c.605G>C (p.Cys202Ser)
|
rs2101810634
|
|
NM_000642.3(AGL):c.18_19del (p.Gln6fs)
|
rs113994127
|
|
NM_000642.3(AGL):c.4456del (p.Ser1486fs)
|
rs113994134
|
|
NM_000660.7(TGFB1):c.241T>C (p.Tyr81His)
|
rs111033611
|
|
NM_000660.7(TGFB1):c.30GCT[6] (p.Leu11_Leu13dup)
|
rs281865483
|
|
NM_000660.7(TGFB1):c.652C>T (p.Arg218Cys)
|
rs104894721
|
|
NM_000660.7(TGFB1):c.653G>A (p.Arg218His)
|
rs104894720
|
|
NM_000660.7(TGFB1):c.664C>G (p.His222Asp)
|
rs281865485
|
|
NM_000660.7(TGFB1):c.673T>C (p.Cys225Arg)
|
rs104894719
|
|
NM_000702.4(ATP1A2):c.2291T>C (p.Leu764Pro)
|
rs28933398
|
|
NM_000702.4(ATP1A2):c.2659T>C (p.Trp887Arg)
|
rs28933399
|
|
NM_000702.4(ATP1A2):c.2936C>T (p.Pro979Leu)
|
rs121918615
|
|
NM_000702.4(ATP1A2):c.901G>A (p.Gly301Arg)
|
rs121918612
|
|
NM_000719.7(CACNA1C):c.116C>T (p.Ala39Val)
|
rs121912776
|
|
NM_000719.7(CACNA1C):c.1204G>A (p.Gly402Ser)
|
rs80315385
|
|
NM_000719.7(CACNA1C):c.1216G>A (p.Gly406Arg)
|
rs79891110
|
|
NM_000719.7(CACNA1C):c.3343G>A (p.Glu1115Lys)
|
rs199473391
|
|
NM_000719.7(CACNA1C):c.3497T>C (p.Ile1166Thr)
|
rs797044881
|
|
NM_000719.7(CACNA1C):c.4418C>G (p.Ala1473Gly)
|
rs794727587
|
|
NM_000742.4(CHRNA2):c.836T>A (p.Ile279Asn)
|
rs104894063
|
|
NM_000744.7(CHRNA4):c.851C>T (p.Ser284Leu)
|
rs28931591
|
|
NM_000744.7(CHRNA4):c.867GCT[3] (p.Leu291dup)
|
rs281865067
|
|
NM_000784.4(CYP27A1):c.1017G>C (p.Thr339=)
|
rs200553205
|
|
NM_000784.4(CYP27A1):c.1061A>G (p.Asp354Gly)
|
rs72551320
|
|
NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser)
|
rs121908096
|
|
NM_000784.4(CYP27A1):c.1185-1G>T
|
rs587778779
|
|
NM_000784.4(CYP27A1):c.1202C>G (p.Pro401Arg)
|
rs587778780
|
|
NM_000784.4(CYP27A1):c.1209C>G (p.Asn403Lys)
|
rs587778781
|
|
NM_000784.4(CYP27A1):c.1222G>T (p.Glu408Ter)
|
rs587778782
|
|
NM_000784.4(CYP27A1):c.1238T>A (p.Val413Asp)
|
rs587778783
|
|
NM_000784.4(CYP27A1):c.1264-1G>A
|
rs587778785
|
|
NM_000784.4(CYP27A1):c.1402C>T (p.Pro468Ser)
|
rs587778787
|
|
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.305del (p.Pro102fs)
|
rs587778790
|
|
NM_000784.4(CYP27A1):c.355del (p.Arg119fs)
|
rs587778793
|
|
NM_000784.4(CYP27A1):c.366= (p.Gly122=)
|
rs1051087
|
|
NM_000784.4(CYP27A1):c.373_379del (p.Pro125fs)
|
rs587778794
|
|
NM_000784.4(CYP27A1):c.399G>A (p.Trp133Ter)
|
rs1160640803
|
|
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.583G>T (p.Glu195Ter)
|
rs587778800
|
|
NM_000784.4(CYP27A1):c.5dup (p.Ala3fs)
|
rs587778802
|
|
NM_000784.4(CYP27A1):c.647-1G>T
|
rs587778804
|
|
NM_000784.4(CYP27A1):c.73del (p.Ala25fs)
|
rs587778807
|
|
NM_000784.4(CYP27A1):c.752C>A (p.Ser251Ter)
|
rs587778808
|
|
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.852G>A (p.Lys284=)
|
rs587778814
|
|
NM_000784.4(CYP27A1):c.863del (p.Glu288fs)
|
rs587778815
|
|
NM_000784.4(CYP27A1):c.944_948del (p.Leu315fs)
|
rs397515356
|
|
NM_000787.4(DBH):c.1085C>A (p.Ala362Glu)
|
rs75215331
|
|
NM_000787.4(DBH):c.1374+24T>G
|
rs778042927
|
|
NM_000787.4(DBH):c.1667A>G (p.Tyr556Cys)
|
rs863225246
|
|
NM_000787.4(DBH):c.342C>A (p.Asp114Glu)
|
rs77576840
|
|
NM_000787.4(DBH):c.617del (p.Glu206fs)
|
rs863225244
|
|
NM_000787.4(DBH):c.806G>T (p.Cys269Phe)
|
rs863225245
|
|
NM_000824.5(GLRB):c.752G>A (p.Gly251Asp)
|
rs121909749
|
|
NM_000890.5(KCNJ5):c.472A>G (p.Thr158Ala)
|
rs387906778
|
|
NM_000891.3(KCNJ2):c.199C>T (p.Arg67Trp)
|
rs104894580
|
|
NM_000891.3(KCNJ2):c.271_282del (p.Ala91_Leu94del)
|
rs797044841
|
|
NM_000891.3(KCNJ2):c.652C>T (p.Arg218Trp)
|
rs104894578
|
|
NM_000891.3(KCNJ2):c.665T>C (p.Leu222Ser)
|
rs1555603968
|
|
NM_000891.3(KCNJ2):c.899G>A (p.Gly300Asp)
|
rs104894579
|
|
NM_000891.3(KCNJ2):c.966G>C (p.Trp322Cys)
|
rs797044842
|
|
NM_001007026.1(ATN1):c.1462CAG[(6_35)] (p.Gln488[(6-35)])
|
|
|
NM_001007026.1(ATN1):c.1462CAG[(90_93)] (p.Gln488[(90-93)])
|
|
|
NM_001007026.1(ATN1):c.1462CAG[49_55] (p.Gln488[49_55])
|
rs60216939
|
|
NM_001010892.3(RSPH4A):c.166dup (p.Arg56fs)
|
rs797045147
|
|
NM_001010892.3(RSPH4A):c.921+3_921+6del
|
rs869320683
|
|
NM_001011.4(RPS7):c.147+1G>A
|
rs397507554
|
|
NM_001012339.3(DNAJC21):c.100A>G (p.Lys34Glu)
|
rs1561180439
|
|
NM_001012339.3(DNAJC21):c.520C>T (p.Gln174Ter)
|
rs1561183139
|
|
NM_001017420.3(ESCO2):c.1111_1112insG (p.Thr371fs)
|
rs1554555716
|
|
NM_001017420.3(ESCO2):c.1111dup (p.Thr371fs)
|
rs80359859
|
|
NM_001017420.3(ESCO2):c.1263+1G>C
|
rs80359863
|
|
NM_001017420.3(ESCO2):c.1269G>A (p.Trp423Ter)
|
rs80359864
|
|
NM_001017420.3(ESCO2):c.1461_1462del (p.Arg487fs)
|
rs80359866
|
|
NM_001017420.3(ESCO2):c.1597dup (p.Cys533fs)
|
rs80359867
|
|
NM_001017420.3(ESCO2):c.1615T>G (p.Trp539Gly)
|
rs80359868
|
|
NM_001017420.3(ESCO2):c.1674-2A>G
|
rs80359869
|
|
NM_001017420.3(ESCO2):c.252_253del (p.Ser85fs)
|
rs80359844
|
|
NM_001017420.3(ESCO2):c.294_297del (p.Arg99fs)
|
rs80359845
|
|
NM_001017420.3(ESCO2):c.307_311del (p.Lys103fs)
|
rs80359846
|
|
NM_001017420.3(ESCO2):c.308_309del (p.Lys103fs)
|
rs80359847
|
|
NM_001017420.3(ESCO2):c.417dup (p.Pro140fs)
|
rs80359848
|
|
NM_001017420.3(ESCO2):c.604C>T (p.Gln202Ter)
|
rs80359850
|
|
NM_001017420.3(ESCO2):c.745_746del (p.Val249fs)
|
rs80359851
|
|
NM_001017420.3(ESCO2):c.751dup (p.Glu251fs)
|
rs1554554098
|
|
NM_001017420.3(ESCO2):c.760del (p.Thr254fs)
|
rs80359852
|
|
NM_001017420.3(ESCO2):c.760dup (p.Thr254fs)
|
rs80359852
|
|
NM_001017420.3(ESCO2):c.764_765del (p.Phe255fs)
|
rs80359855
|
|
NM_001017420.3(ESCO2):c.876_879del (p.Asp292fs)
|
rs80359856
|
|
NM_001017420.3(ESCO2):c.879_880del (p.Arg293fs)
|
rs80359857
|
|
NM_001017420.3(ESCO2):c.955+2_955+5del
|
rs80359858
|
|
NM_001024630.4(RUNX2):c.1171C>T (p.Arg391Ter)
|
rs397515537
|
|
NM_001024630.4(RUNX2):c.1205dup (p.Pro403fs)
|
rs730880314
|
|
NM_001024630.4(RUNX2):c.598A>G (p.Thr200Ala)
|
rs104893993
|
|
NM_001024630.4(RUNX2):c.673C>T (p.Arg225Trp)
|
rs104893992
|
|
NM_001024630.4(RUNX2):c.674G>A (p.Arg225Gln)
|
rs104893991
|
|
NM_001024630.4(RUNX2):c.674G>T (p.Arg225Leu)
|
rs104893991
|
|
NM_001024630.4(RUNX2):c.90dup (p.Ser31fs)
|
rs397515538
|
|
NM_001024845.3(SLC6A9):c.1000A>G (p.Ser334Gly)
|
rs1057519313
|
|
NM_001024845.3(SLC6A9):c.1498C>T (p.Gln500Ter)
|
rs1057519314
|
|
NM_001024845.3(SLC6A9):c.709_713del (p.Lys237fs)
|
rs1057519315
|
|
NM_001031847.2(CPT1A):c.(?_1744)_2107del (p.Met582Glnfs)
|
|
|
NM_001032221.6(STXBP1):c.1162C>T (p.Arg388Ter)
|
rs121918321
|
|
NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His)
|
rs886041246
|
|
NM_001032221.6(STXBP1):c.1439C>T (p.Pro480Leu)
|
rs796053368
|
|
NM_001032221.6(STXBP1):c.1651C>T (p.Arg551Cys)
|
rs796053373
|
|
NM_001032221.6(STXBP1):c.364C>T (p.Arg122Ter)
|
rs794727792
|
|
NM_001032221.6(STXBP1):c.416C>T (p.Pro139Leu)
|
rs796053353
|
|
NM_001032221.6(STXBP1):c.568C>T (p.Arg190Trp)
|
|
|
NM_001032221.6(STXBP1):c.703C>T (p.Arg235Ter)
|
rs796053359
|
|
NM_001032221.6(STXBP1):c.875G>A (p.Arg292His)
|
rs796053361
|
|
NM_001032221.6(STXBP1):c.902+1G>A
|
rs886041978
|
|
NM_001032386.2(SUOX):c.1280_1281delinsAC (p.Ser427Tyr)
|
rs1565799723
|
|
NM_001032386.2(SUOX):c.1589G>A (p.Gly530Asp)
|
rs121908009
|
|
NM_001032386.2(SUOX):c.520del (p.Asp174fs)
|
rs1565798380
|
|
NM_001032386.2(SUOX):c.794C>A (p.Ala265Asp)
|
rs121908008
|
|
NM_001035.3(RYR2):c.12602A>G (p.Gln4201Arg)
|
rs121918605
|
|
NM_001035.3(RYR2):c.13489C>T (p.Arg4497Cys)
|
rs121918600
|
|
NM_001035.3(RYR2):c.13957G>T (p.Val4653Phe)
|
rs121918604
|
|
NM_001035.3(RYR2):c.6982C>T (p.Pro2328Ser)
|
rs121918603
|
|
NM_001039958.1(MESP2):c.535GGGCAGGGGCAA[2_4]
|
rs397507446
|
|
NM_001039958.2(MESP2):c.197C>G (p.Ala66Gly)
|
rs71647809
|
|
NM_001039958.2(MESP2):c.241G>T (p.Gly81Ter)
|
rs118204034
|
|
NM_001039958.2(MESP2):c.271A>G (p.Lys91Glu)
|
rs113994156
|
|
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.385A>T (p.Ile129Phe)
|
rs113994157
|
|
NM_001039958.2(MESP2):c.500_503dup (p.Gly169fs)
|
rs113994158
|
|
NM_001039958.2(MESP2):c.670T>C (p.Ser224Pro)
|
rs118204033
|
|
NM_001039958.2(MESP2):c.700G>T (p.Glu234Ter)
|
rs118204035
|
|
NM_001040138.2(CKLF):c.-7863_-2035delins[AC010542.7:g.65062_65110]
|
|
|
NM_001040167.2(LFNG):c.564C>A (p.Phe188Leu)
|
rs104894024
|
|
NM_001042432.2(CLN3):c.461-280_677+382del
|
rs1555468634
|
|
NM_001042492.3(NF1):c.2970_2972del (p.Met992del)
|
rs267606606
|
|
NM_001042492.3(NF1):c.5488C>A (p.Arg1830Ser)
|
rs797045139
|
|
NM_001042492.3(NF1):c.5488C>G (p.Arg1830Gly)
|
rs797045139
|
|
NM_001042492.3(NF1):c.5489G>C (p.Arg1830Pro)
|
rs771529172
|
|
NM_001042492.3(NF1):c.5489G>T (p.Arg1830Leu)
|
rs771529172
|
|
NM_001048166.1(STIL):c.1262A>C (p.Gln421Pro)
|
rs28472545
|
|
NM_001048166.1(STIL):c.1263A>C (p.Gln421His)
|
rs28705368
|
|
NM_001048166.1(STIL):c.2829+1G>A
|
rs199422206
|
|
NM_001048166.1(STIL):c.2858C>A (p.Ser953Tyr)
|
rs199422204
|
|
NM_001048166.1(STIL):c.3658del (p.Leu1219_Val1220insTer)
|
rs199422207
|
|
NM_001048166.1(STIL):c.3718C>T (p.Gln1240Ter)
|
rs121918609
|
|
NM_001048174.2(MUTYH):c.1063del (p.Ala357fs)
|
rs587778536
|
|
NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs)
|
rs587780078
|
|
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del)
|
rs587778541
|
|
NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter)
|
rs121908381
|
|
NM_001048174.2(MUTYH):c.228C>A (p.Tyr76Ter)
|
rs121908380
|
|
NM_001077446.4(TSEN34):c.172C>T (p.Arg58Trp)
|
rs113994150
|
|
NM_001079.4(ZAP70):c.1065C>T (p.Gly355=)
|
rs201207626
|
|
NM_001079.4(ZAP70):c.1624-11G>A
|
rs730880318
|
|
NM_001079.4(ZAP70):c.1714A>T (p.Met572Leu)
|
rs113994175
|
|
NM_001079.4(ZAP70):c.239C>A (p.Pro80Gln)
|
rs113994172
|
|
NM_001079.4(ZAP70):c.838-80G>A
|
rs113994173
|
|
NM_001081563.1(DMPK):c.*224_*226CTG[(5-34)]
|
|
|
NM_001082486.2(ACD):c.250_252del (p.Lys84del)
|
rs797045144
|
|
NM_001097642.2(GJB1):c.572_580dup(p.Phe193_Met194insThrValPhe)
|
rs116840823
|
|
NM_001099274.3(TINF2):c.838A>G (p.Lys280Glu)
|
rs121918543
|
|
NM_001099274.3(TINF2):c.838A>T (p.Lys280Ter)
|
rs121918543
|
|
NM_001099274.3(TINF2):c.844C>A (p.Arg282Ser)
|
rs121918545
|
|
NM_001099274.3(TINF2):c.844C>T (p.Arg282Cys)
|
rs121918545
|
|
NM_001099274.3(TINF2):c.847C>G (p.Pro283Ala)
|
rs199422311
|
|
NM_001099274.3(TINF2):c.847C>T (p.Pro283Ser)
|
rs199422311
|
|
NM_001099274.3(TINF2):c.848C>A (p.Pro283His)
|
rs199422313
|
|
NM_001099274.3(TINF2):c.849dup (p.Thr284fs)
|
rs199422315
|
|
NM_001099274.3(TINF2):c.850A>G (p.Thr284Ala)
|
rs199422314
|
|
NM_001099274.3(TINF2):c.860T>C (p.Leu287Pro)
|
rs199422316
|
|
NM_001099274.3(TINF2):c.862T>C (p.Phe288Leu)
|
rs199422317
|
|
NM_001099274.3(TINF2):c.865_866delinsAG (p.Pro289Ser)
|
rs199422318
|
|
NM_001099274.3(TINF2):c.871A>G (p.Arg291Gly)
|
rs199422319
|
|
NM_001099274.3(TINF2):c.892del (p.Gln298fs)
|
rs199422320
|
|
NM_001099857.5(IKBKG):c.1167dup (p.Glu390fs)
|
rs782178147
|
|
NM_001100.4(ACTA1):c.1000C>T (p.Pro334Ser)
|
rs121909531
|
|
NM_001100.4(ACTA1):c.143G>A (p.Gly48Asp)
|
rs367543049
|
|
NM_001100.4(ACTA1):c.16G>A (p.Glu6Lys)
|
rs367543048
|
|
NM_001100.4(ACTA1):c.621G>C (p.Glu207Asp)
|
rs367543050
|
|
NM_001100.4(ACTA1):c.668T>C (p.Leu223Pro)
|
rs121909530
|
|
NM_001100.4(ACTA1):c.727G>A (p.Glu243Lys)
|
rs367543051
|
|
NM_001100.4(ACTA1):c.881A>T (p.Asp294Val)
|
rs121909529
|
|
NM_001101.5(ACTB):c.1090G>A (p.Glu364Lys)
|
rs368352689
|
|
NM_001101.5(ACTB):c.359C>T (p.Thr120Ile)
|
rs587779774
|
|
NM_001101.5(ACTB):c.547C>T (p.Arg183Trp)
|
rs104894003
|
|
NM_001102564.3(IFT43):c.1A>G (p.Met1Val)
|
rs387907107
|
|
NM_001110556.2(FLNA):c.1910C>A (p.Pro637Gln)
|
rs267606815
|
|
NM_001110556.2(FLNA):c.1923C>T (p.Gly641=)
|
rs80338841
|
|
NM_001110556.2(FLNA):c.2228A>C (p.His743Pro)
|
rs2148115732
|
|
NM_001110556.2(FLNA):c.2280+266_2827-25delinsTG
|
|
|
NM_001110556.2(FLNA):c.3552C>A (p.Asp1184Glu)
|
rs80338837
|
|
NM_001110556.2(FLNA):c.3562G>A (p.Ala1188Thr)
|
rs28935472
|
|
NM_001110556.2(FLNA):c.3596C>T (p.Ser1199Leu)
|
rs28935473
|
|
NM_001110556.2(FLNA):c.5217G>A (p.Thr1739=)
|
rs387907371
|
|
NM_001110556.2(FLNA):c.67_68del (p.Thr23fs)
|
rs80338840
|
|
NM_001110556.2(FLNA):c.862G>A (p.Gly288Arg)
|
rs267606816
|
|
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)
|
rs28934904
|
|
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val)
|
rs28934908
|
|
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)
|
rs28934906
|
|
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter)
|
rs61748421
|
|
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)
|
rs61749721
|
|
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter)
|
rs61750240
|
|
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys)
|
rs28935468
|
|
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp)
|
rs61751444
|
|
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg)
|
rs398122822
|
|
NM_001113491.2(SEPTIN9):c.316C>T (p.Arg106Trp)
|
rs80338761
|
|
NM_001113491.2(SEPTIN9):c.332C>T (p.Ser111Phe)
|
rs80338762
|
|
NM_001113491.2(SEPTIN9):c.76+12996G>C
|
rs80338760
|
|
NM_001114134.2(EPB42):c.433G>T (p.Asp145Tyr)
|
rs143682977
|
|
NM_001114134.2(EPB42):c.860del (p.Arg287fs)
|
rs515726213
|
|
NM_001122630.2(CDKN1C):c.782T>G (p.Ile261Ser)
|
rs515726203
|
|
NM_001122630.2(CDKN1C):c.793T>G (p.Phe265Val)
|
rs387907223
|
|
NM_001122630.2(CDKN1C):c.794T>C (p.Phe265Ser)
|
rs387907224
|
|
NM_001122630.2(CDKN1C):c.799A>G (p.Lys267Glu)
|
rs387907226
|
|
NM_001122630.2(CDKN1C):c.802C>A (p.Arg268Ser)
|
rs1848883206
|
|
NM_001122630.2(CDKN1C):c.803G>C (p.Arg268Pro)
|
rs318240750
|
|
NM_001122630.2(CDKN1C):c.803G>T (p.Arg268Leu)
|
rs318240750
|
|
NM_001122630.2(CDKN1C):c.809G>T (p.Arg270Ile)
|
rs886037912
|
|
NM_001122764.3(PPOX):c.175C>T (p.Arg59Trp)
|
rs121918324
|
|
NM_001122769.3(LCA5):c.1151del (p.Pro384fs)
|
rs386834252
|
|
NM_001122769.3(LCA5):c.1476dup (p.Pro493fs)
|
rs386834253
|
|
NM_001122955.4(BSCL2):c.1015C>T (p.Arg339Ter)
|
rs137852974
|
|
NM_001122955.4(BSCL2):c.334C>T (p.Leu112Phe)
|
rs1057517657
|
|
NM_001122955.4(BSCL2):c.346_347dup (p.Tyr117fs)
|
rs1057517658
|
|
NM_001122955.4(BSCL2):c.385delinsGGA (p.Pro129fs)
|
rs1057517659
|
|
NM_001122955.4(BSCL2):c.461C>G (p.Ser154Trp)
|
rs137852973
|
|
NM_001122955.4(BSCL2):c.479G>A (p.Arg160His)
|
|
|
NM_001122955.4(BSCL2):c.509_513del (p.Tyr170fs)
|
rs587777608
|
|
NM_001122955.4(BSCL2):c.766-2A>G
|
rs1013079991
|
|
NM_001122955.4(BSCL2):c.863+5G>A
|
rs786205072
|
|
NM_001122955.4(BSCL2):c.864-2A>G
|
rs766061024
|
|
NM_001122955.4(BSCL2):c.864-3C>G
|
rs786205073
|
|
NM_001122955.4(BSCL2):c.974dup (p.Ile326fs)
|
rs749890533
|
|
NM_001126121.2(SLC25A19):c.373G>A (p.Gly125Ser)
|
rs387906944
|
|
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln)
|
rs121908217
|
|
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met)
|
rs121908212
|
|
NM_001127222.2(CACNA1A):c.2138T>C (p.Val713Ala)
|
rs121908213
|
|
NM_001127222.2(CACNA1A):c.2142C>G (p.Asp714Glu)
|
rs121908218
|
|
NM_001127222.2(CACNA1A):c.4363G>T (p.Val1455Leu)
|
rs121908237
|
|
NM_001127222.2(CACNA1A):c.5425A>C (p.Ile1809Leu)
|
rs121908214
|
|
NM_001127222.2(CACNA1A):c.575G>A (p.Arg192Gln)
|
rs121908211
|
|
NM_001127222.2(CACNA1A):c.653C>T (p.Ser218Leu)
|
rs121908225
|
|
NM_001127701.1(SERPINA1):c.1145T>G (p.Met382Arg)
|
rs121912713
|
|
NM_001127701.1(SERPINA1):c.230C>T (p.Ser77Phe)
|
rs55819880
|
|
NM_001127701.1(SERPINA1):c.272G>A (p.Gly91Glu)
|
rs28931568
|
|
NM_001127701.1(SERPINA1):c.347T>A (p.Ile116Asn)
|
rs28931572
|
|
NM_001127898.4(CLCN5):c.1025A>G (p.Tyr342Cys)
|
rs273585644
|
|
NM_001127898.4(CLCN5):c.1044G>C (p.Leu348Phe)
|
rs273585648
|
|
NM_001127898.4(CLCN5):c.1046G>A (p.Trp349Ter)
|
rs797044809
|
|
NM_001127898.4(CLCN5):c.1230C>A (p.Asn410Lys)
|
rs273585646
|
|
NM_001127898.4(CLCN5):c.1249C>T (p.Arg417Ter)
|
rs797044810
|
|
NM_001127898.4(CLCN5):c.1609C>T (p.Arg537Ter)
|
rs797044811
|
|
NM_001127898.4(CLCN5):c.1727G>A (p.Gly576Glu)
|
rs151340625
|
|
NM_001127898.4(CLCN5):c.1747G>A (p.Gly583Arg)
|
rs273585647
|
|
NM_001127898.4(CLCN5):c.1756C>T (p.Arg586Trp)
|
rs797044812
|
|
NM_001127898.4(CLCN5):c.1847A>G (p.Lys616Arg)
|
rs273585649
|
|
NM_001127898.4(CLCN5):c.1849T>G (p.Trp617Gly)
|
rs273585650
|
|
NM_001127898.4(CLCN5):c.2119C>T (p.Arg707Ter)
|
rs797044813
|
|
NM_001127898.4(CLCN5):c.2152C>T (p.Arg718Ter)
|
rs151340621
|
|
NM_001127898.4(CLCN5):c.2362C>T (p.Arg788Ter)
|
rs797044814
|
|
NM_001127898.4(CLCN5):c.2393_2415del (p.Val798fs)
|
rs797044815
|
|
NM_001127898.4(CLCN5):c.310C>T (p.Arg104Ter)
|
rs797044808
|
|
NM_001127898.4(CLCN5):c.884T>C (p.Leu295Pro)
|
rs273585645
|
|
NM_001127898.4(CLCN5):c.941C>T (p.Ser314Leu)
|
rs151340626
|
|
NM_001127898.4(CLCN5):c.989G>T (p.Gly330Val)
|
rs151340630
|
|
NM_001128178.3(NPHP1):c.80T>A (p.Leu27Ter)
|
rs121907898
|
|
NM_001128425.1(MUTYH):c.348+33_*210delinsTA
|
|
|
NM_001128431.4(SLC39A14):c.1147G>A (p.Gly383Arg)
|
rs879253766
|
|
NM_001128431.4(SLC39A14):c.1407C>G (p.Asn469Lys)
|
rs750281602
|
|
NM_001128431.4(SLC39A14):c.292T>G (p.Phe98Val)
|
rs879253763
|
|
NM_001128431.4(SLC39A14):c.313G>T (p.Glu105Ter)
|
rs879253764
|
|
NM_001128431.4(SLC39A14):c.367C>T (p.Gln123Ter)
|
rs1554519011
|
|
NM_001128431.4(SLC39A14):c.751-9C>G
|
rs1039778197
|
|
NM_001130987.2(DYSF):c.3427del (p.Glu1143fs)
|
rs2093189899
|
|
NM_001130987.2(DYSF):c.5785-824C>T
|
rs1285082850
|
|
NM_001134407.3(GRIN2A):c.1007+1G>A
|
rs397518465
|
|
NM_001134407.3(GRIN2A):c.1553G>A (p.Arg518His)
|
rs397518470
|
|
NM_001134407.3(GRIN2A):c.1845C>A (p.Asn615Lys)
|
rs397518447
|
|
NM_001134407.3(GRIN2A):c.2146G>A (p.Ala716Thr)
|
|
|
NM_001135998.3(NDUFB11):c.262C>T (p.Arg88Ter)
|
rs786205225
|
|
NM_001135998.3(NDUFB11):c.372del (p.Arg124fs)
|
rs876657384
|
|
NM_001136472.2(LITAF):c.332C>G (p.Ala111Gly)
|
rs281865134
|
|
NM_001136472.2(LITAF):c.334G>A (p.Gly112Ser)
|
rs104894519
|
|
NM_001136472.2(LITAF):c.344C>A (p.Thr115Asn)
|
rs104894520
|
|
NM_001136472.2(LITAF):c.346T>G (p.Trp116Gly)
|
rs104894521
|
|
NM_001136472.2(LITAF):c.385G>A (p.Ala129Thr)
|
rs797044847
|
|
NM_001136472.2(LITAF):c.403C>A (p.Pro135Thr)
|
rs281865135
|
|
NM_001136472.2(LITAF):c.403C>T (p.Pro135Ser)
|
rs281865135
|
|
NM_001136472.2(LITAF):c.404C>G (p.Pro135Arg)
|
rs797044848
|
|
NM_001143992.2(WRAP53):c.1126C>T (p.His376Tyr)
|
rs281865549
|
|
NM_001143992.2(WRAP53):c.492C>A (p.Phe164Leu)
|
rs281865547
|
|
NM_001146040.1(GLRA1):c.(?_-287)_(912+?)del
|
|
|
NM_001164508.2(NEB):c.7431+1919_7536+374del
|
|
|
NM_001164688.2(RD3):c.296+1G>A
|
rs386834260
|
|
NM_001165963.4(SCN1A):c.787C>G (p.Leu263Val)
|
rs2105890052
|
|
NM_001165967.2(HES7):c.73C>T (p.Arg25Trp)
|
rs113994160
|
|
NM_001166114.2(PNPLA6):c.1705G>T (p.Gly569Trp)
|
rs587777615
|
|
NM_001166114.2(PNPLA6):c.3058_3061dup (p.Arg1021fs)
|
rs606231167
|
|
NM_001166114.2(PNPLA6):c.3148A>G (p.Met1050Val)
|
rs121434415
|
|
NM_001166114.2(PNPLA6):c.3266G>A (p.Arg1089Gln)
|
rs786201037
|
|
NM_001166114.2(PNPLA6):c.760G>A (p.Val254Ile)
|
rs587777184
|
|
NM_001167623.2(CACNA1C):c.1216G>A (p.Gly406Arg)
|
rs786205745
|
|
NM_001172509.2(SATB2):c.1142T>G (p.Val381Gly)
|
rs1559174854
|
|
NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys)
|
|
|
NM_001172509.2(SATB2):c.1171C>T (p.Gln391Ter)
|
rs1559174813
|
|
NM_001172509.2(SATB2):c.1186G>C (p.Glu396Gln)
|
rs1559164403
|
|
NM_001172509.2(SATB2):c.1375C>T (p.Arg459Ter)
|
rs1553547838
|
|
NM_001172509.2(SATB2):c.1945dup (p.Ser649fs)
|
rs1559136052
|
|
NM_001172509.2(SATB2):c.2018dup (p.His673fs)
|
rs1559136015
|
|
NM_001172509.2(SATB2):c.2074G>T (p.Glu692Ter)
|
rs1559135904
|
|
NM_001172509.2(SATB2):c.346+2T>G
|
rs1559052017
|
|
NM_001172509.2(SATB2):c.715C>T (p.Arg239Ter)
|
rs137853127
|
|
NM_001172509.2(SATB2):c.748C>T (p.Gln250Ter)
|
rs1558995207
|
|
NM_001172509.2(SATB2):c.847C>T (p.Arg283Ter)
|
rs797044874
|
|
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu)
|
rs201108965
|
|
NM_001182.5(ALDH7A1):c.696-502G>C
|
rs2112786192
|
|
NM_001199107.2(TBC1D24):c.208G>T (p.Asp70Tyr)
|
rs587777147
|
|
NM_001199107.2(TBC1D24):c.404C>T (p.Pro135Leu)
|
rs1057519630
|
|
NM_001204747.1:c.132+2923_2927AAAAG[(12_200)]
|
|
|
NM_001204747.1:c.132+2923_2927AAAGG[(40_1000)]
|
|
|
NM_001204747.1:c.132+2923_2927AAGGG[(400_2000)]
|
|
|
NM_001204747.1:c.132+2923_2927ACAGG[(400_2000)]
|
|
|
NM_001232.4(CASQ2):c.539A>G (p.Lys180Arg)
|
rs886039816
|
|
NM_001232.4(CASQ2):c.62del (p.Glu21fs)
|
rs397507555
|
|
NM_001232.4(CASQ2):c.919G>C (p.Asp307His)
|
rs121434549
|
|
NM_001232.4(CASQ2):c.97C>T (p.Arg33Ter)
|
rs397507556
|
|
NM_001242896.3(DEPDC5):c.1093_1099dup (p.Val367fs)
|
rs886039258
|
|
NM_001242896.3(DEPDC5):c.1114C>T (p.Gln372Ter)
|
rs886039259
|
|
NM_001242896.3(DEPDC5):c.1122del (p.Leu374fs)
|
rs879255234
|
|
NM_001242896.3(DEPDC5):c.1218-13_1218-10del
|
rs150103661
|
|
NM_001242896.3(DEPDC5):c.1264C>T (p.Arg422Ter)
|
rs757511744
|
|
NM_001242896.3(DEPDC5):c.132dup (p.Asn45fs)
|
rs886039244
|
|
NM_001242896.3(DEPDC5):c.1555C>T (p.Gln519Ter)
|
rs886039261
|
|
NM_001242896.3(DEPDC5):c.1625A>C (p.Gln542Pro)
|
rs886039279
|
|
NM_001242896.3(DEPDC5):c.1759C>T (p.Arg587Ter)
|
rs886039263
|
|
NM_001242896.3(DEPDC5):c.193+1G>A
|
rs886039245
|
|
NM_001242896.3(DEPDC5):c.2355-2A>G
|
rs797044545
|
|
NM_001242896.3(DEPDC5):c.2390del (p.Gln797fs)
|
rs886039264
|
|
NM_001242896.3(DEPDC5):c.2620C>T (p.Arg874Ter)
|
rs578185749
|
|
NM_001242896.3(DEPDC5):c.279+1G>A
|
rs886039246
|
|
NM_001242896.3(DEPDC5):c.3046C>T (p.Gln1016Ter)
|
rs886039265
|
|
NM_001242896.3(DEPDC5):c.3259C>T (p.Arg1087Ter)
|
rs587777458
|
|
NM_001242896.3(DEPDC5):c.3444del (p.Ile1148fs)
|
rs886039266
|
|
NM_001242896.3(DEPDC5):c.3484A>G (p.Ser1162Gly)
|
rs886039280
|
|
NM_001242896.3(DEPDC5):c.3696+5G>A
|
rs886039267
|
|
NM_001242896.3(DEPDC5):c.3802C>T (p.Arg1268Ter)
|
rs886039268
|
|
NM_001242896.3(DEPDC5):c.3803G>A (p.Arg1268Gln)
|
rs886039281
|
|
NM_001242896.3(DEPDC5):c.3994C>T (p.Arg1332Ter)
|
rs886039269
|
|
NM_001242896.3(DEPDC5):c.4107G>A (p.Trp1369Ter)
|
rs587776975
|
|
NM_001242896.3(DEPDC5):c.4187del (p.Ala1396fs)
|
rs886039271
|
|
NM_001242896.3(DEPDC5):c.418C>T (p.Gln140Ter)
|
rs786205703
|
|
NM_001242896.3(DEPDC5):c.435G>A (p.Trp145Ter)
|
rs886039247
|
|
NM_001242896.3(DEPDC5):c.4397G>A (p.Trp1466Ter)
|
rs886039273
|
|
NM_001242896.3(DEPDC5):c.4567C>T (p.Gln1523Ter)
|
rs797044546
|
|
NM_001242896.3(DEPDC5):c.4606C>T (p.Gln1536Ter)
|
rs886039274
|
|
NM_001242896.3(DEPDC5):c.484-1G>A
|
rs886039249
|
|
NM_001242896.3(DEPDC5):c.489_491del (p.Phe164del)
|
rs587776974
|
|
NM_001242896.3(DEPDC5):c.492_496del (p.Arg165fs)
|
rs886039250
|
|
NM_001242896.3(DEPDC5):c.526C>T (p.Gln176Ter)
|
rs886039251
|
|
NM_001242896.3(DEPDC5):c.56G>C (p.Ser19Thr)
|
rs886039275
|
|
NM_001242896.3(DEPDC5):c.59-1G>C
|
rs886039243
|
|
NM_001242896.3(DEPDC5):c.624+1G>A
|
rs886039252
|
|
NM_001242896.3(DEPDC5):c.640C>G (p.His214Asp)
|
rs886039276
|
|
NM_001242896.3(DEPDC5):c.715C>T (p.Arg239Ter)
|
rs587776976
|
|
NM_001242896.3(DEPDC5):c.727C>T (p.Arg243Ter)
|
rs772872014
|
|
NM_001242896.3(DEPDC5):c.730C>T (p.Gln244Ter)
|
rs886039253
|
|
NM_001242896.3(DEPDC5):c.783_786del (p.Asn261fs)
|
rs886039254
|
|
NM_001242896.3(DEPDC5):c.814G>T (p.Val272Leu)
|
rs187334123
|
|
NM_001242896.3(DEPDC5):c.856C>T (p.Arg286Ter)
|
rs886039255
|
|
NM_001242896.3(DEPDC5):c.918C>G (p.Tyr306Ter)
|
rs886039256
|
|
NM_001242896.3(DEPDC5):c.982C>T (p.Arg328Ter)
|
rs587776977
|
|
NM_001242896.3(DEPDC5):c.985del (p.Thr329fs)
|
rs886039257
|
|
NM_001244008.2(KIF1A):c.5271dup (p.Ser1758fs)
|
rs587778798
|
|
NM_001256054.2(C9orf72):c.-45+163_-45+180GGGGCC(2_25)
|
|
|
NM_001256789.3(CACNA1F):c.3133dup (p.Leu1045fs)
|
rs80359870
|
|
NM_001256864.2(DNAJC6):c.2038+3A>G
|
rs961974767
|
|
NM_001256864.2(DNAJC6):c.2365C>T (p.Gln789Ter)
|
rs2101635253
|
|
NM_001256864.2(DNAJC6):c.2410C>T (p.Gln804Ter)
|
rs398122405
|
|
NM_001256864.2(DNAJC6):c.2416C>T (p.Arg806Ter)
|
rs1646073230
|
|
NM_001256864.2(DNAJC6):c.2779A>G (p.Arg927Gly)
|
rs879255630
|
|
NM_001256864.2(DNAJC6):c.766C>T (p.Arg256Ter)
|
rs745630837
|
|
NM_001256864.2(DNAJC6):c.801-2A>G
|
rs398122404
|
|
NM_001257180.2(SLC20A2):c.1802C>G (p.Ser601Trp)
|
rs387906652
|
|
NM_001257180.2(SLC20A2):c.1802C>T (p.Ser601Leu)
|
rs387906652
|
|
NM_001258392.3(CLPB):c.1215_1217inv (p.Glu405_Gly406delinsAspPro)
|
|
|
NM_001258392.3(CLPB):c.1366T>C (p.Cys456Arg)
|
rs886041118
|
|
NM_001258392.3(CLPB):c.1595del (p.Ile532fs)
|
rs876657402
|
|
NM_001258392.3(CLPB):c.1610A>G (p.Tyr537Cys)
|
rs150857620
|
|
NM_001258392.3(CLPB):c.1682C>T (p.Ala561Val)
|
rs748010262
|
|
NM_001258392.3(CLPB):c.1825G>A (p.Glu609Lys)
|
rs375934856
|
|
NM_001258392.3(CLPB):c.1847G>T (p.Gly616Val)
|
rs759500860
|
|
NM_001258392.3(CLPB):c.1847dup (p.Cys617fs)
|
rs886041119
|
|
NM_001258392.3(CLPB):c.1955T>A (p.Ile652Asn)
|
rs886041120
|
|
NM_001258392.3(CLPB):c.658C>T (p.Arg220Ter)
|
rs777202372
|
|
NM_001258392.3(CLPB):c.715G>A (p.Ala239Thr)
|
rs886041117
|
|
NM_001258392.3(CLPB):c.725A>G (p.Tyr242Cys)
|
rs777313457
|
|
NM_001258392.3(CLPB):c.871A>T (p.Lys291Ter)
|
rs786205139
|
|
NM_001267550.2(TTN):c.105528_105535del (p.Gln35176fs)
|
rs199469665
|
|
NM_001267550.2(TTN):c.107647del (p.Ser35883fs)
|
rs281864932
|
|
NM_001267550.2(TTN):c.107780_107790delinsTGAAAGAAAAA (p.Glu35927_Trp35930delinsValLysGluLys)
|
rs281864927
|
|
NM_001267550.2(TTN):c.107837A>C (p.His35946Pro)
|
rs281864931
|
|
NM_001267550.2(TTN):c.107840T>A (p.Ile35947Asn)
|
rs281864928
|
|
NM_001267550.2(TTN):c.107867T>C (p.Leu35956Pro)
|
rs267607156
|
|
NM_001267550.2(TTN):c.107889del (p.Lys35963fs)
|
rs281864930
|
|
NM_001267550.2(TTN):c.107890C>T (p.Gln35964Ter)
|
rs281864929
|
|
NM_001267550.2(TTN):c.107892_107897del (p.Gln35964_Gly35966delinsHis)
|
rs281864933
|
|
NM_001267550.2(TTN):c.95126C>G (p.Pro31709Arg)
|
rs869320739
|
|
NM_001267550.2(TTN):c.95134T>C (p.Cys31712Arg)
|
rs869320740
|
|
NM_001267550.2(TTN):c.95185T>C (p.Trp31729Arg)
|
rs869320741
|
|
NM_001267550.2(TTN):c.95186G>T (p.Trp31729Leu)
|
rs786205367
|
|
NM_001267550.2(TTN):c.95187G>C (p.Trp31729Cys)
|
rs869320742
|
|
NM_001267550.2(TTN):c.95358C>G (p.Asn31786Lys)
|
rs869320743
|
|
NM_001271696.3(ABCB7):c.1200T>G (p.Ile400Met)
|
rs72554634
|
|
NM_001271696.3(ABCB7):c.1231G>C (p.Val411Leu)
|
rs80356713
|
|
NM_001271696.3(ABCB7):c.1297G>A (p.Glu433Lys)
|
rs80356714
|
|
NM_001271696.3(ABCB7):c.624A>T (p.Glu208Asp)
|
rs515726147
|
|
NM_001277115.2(DNAH11):c.8533C>T (p.Arg2845Ter)
|
rs121908854
|
|
NM_001281503.2(SLITRK1):c.1264del (p.Leu422fs)
|
rs193302861
|
|
NM_001282225.2(ADA2):c.140G>C (p.Gly47Ala)
|
rs200930463
|
|
NM_001282531.3(ADNP):c.2157C>G (p.Tyr719Ter)
|
rs587777526
|
|
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter)
|
rs886041116
|
|
NM_001282531.3(ADNP):c.2491_2494del (p.Leu831fs)
|
rs587777522
|
|
NM_001282531.3(ADNP):c.2496_2499del (p.Asn832fs)
|
rs587777523
|
|
NM_001282531.3(ADNP):c.3278_3279dup (p.Gly1094fs)
|
rs869320662
|
|
NM_001282534.2(KCNK9):c.706G>A (p.Gly236Arg)
|
rs121908332
|
|
NM_001282534.2(KCNK9):c.706G>C (p.Gly236Arg)
|
rs121908332
|
|
NM_001287.6(CLCN7):c.2299C>T (p.Arg767Trp)
|
rs121434435
|
|
NM_001287.6(CLCN7):c.296A>G (p.Tyr99Cys)
|
rs387907576
|
|
NM_001287.6(CLCN7):c.643G>A (p.Gly215Arg)
|
rs397515539
|
|
NM_001287742.2(FDFT1):c.-75+131_-75+146del
|
rs1563290033
|
|
NM_001288705.3(CSF1R):c.1699del (p.Thr567fs)
|
rs690016546
|
|
NM_001288705.3(CSF1R):c.1745T>C (p.Leu582Pro)
|
rs690016563
|
|
NM_001288705.3(CSF1R):c.1889T>G (p.Leu630Arg)
|
rs690016547
|
|
NM_001288705.3(CSF1R):c.1957T>C (p.Cys653Arg)
|
rs690016559
|
|
NM_001288705.3(CSF1R):c.1958G>A (p.Cys653Tyr)
|
rs397515555
|
|
NM_001288705.3(CSF1R):c.2060dup (p.Ser688fs)
|
rs587777245
|
|
NM_001288705.3(CSF1R):c.2294G>A (p.Gly765Asp)
|
rs690016566
|
|
NM_001288705.3(CSF1R):c.2329C>T (p.Arg777Trp)
|
rs397515556
|
|
NM_001288705.3(CSF1R):c.2330G>A (p.Arg777Gln)
|
rs690016548
|
|
NM_001288705.3(CSF1R):c.2342C>A (p.Ala781Glu)
|
rs587777247
|
|
NM_001288705.3(CSF1R):c.2342C>T (p.Ala781Val)
|
rs587777247
|
|
NM_001288705.3(CSF1R):c.2350G>A (p.Val784Met)
|
rs690016564
|
|
NM_001288705.3(CSF1R):c.2378A>C (p.Lys793Thr)
|
rs690016561
|
|
NM_001288705.3(CSF1R):c.2442+1G>T
|
rs587777246
|
|
NM_001288705.3(CSF1R):c.2450T>C (p.Leu817Pro)
|
rs690016549
|
|
NM_001288705.3(CSF1R):c.2480T>C (p.Ile827Thr)
|
rs690016550
|
|
NM_001288705.3(CSF1R):c.2483T>C (p.Phe828Ser)
|
rs397515557
|
|
NM_001288705.3(CSF1R):c.2512G>C (p.Val838Leu)
|
rs690016557
|
|
NM_001288705.3(CSF1R):c.2527A>T (p.Ile843Phe)
|
rs690016558
|
|
NM_001288705.3(CSF1R):c.2528T>A (p.Ile843Asn)
|
rs690016555
|
|
NM_001288705.3(CSF1R):c.2541G>C (p.Glu847Asp)
|
rs690016551
|
|
NM_001288705.3(CSF1R):c.2566T>C (p.Tyr856His)
|
rs690016552
|
|
NM_001288705.3(CSF1R):c.2629C>T (p.Gln877Ter)
|
rs690016556
|
|
NM_001288705.3(CSF1R):c.2655-2A>G
|
rs690016554
|
|
NM_001288705.3(CSF1R):c.2701C>T (p.Pro901Ser)
|
rs690016553
|
|
NM_001288705.3(CSF1R):c.2717T>C (p.Ile906Thr)
|
rs690016560
|
|
NM_001289808.2(CRYAB):c.358A>G (p.Arg120Gly)
|
rs104894201
|
|
NM_001289808.2(CRYAB):c.60del (p.Ser21fs)
|
rs281865141
|
|
NM_001321759.2(CDIN1):c.281A>G (p.Tyr94Cys)
|
rs587777101
|
|
NM_001321759.2(CDIN1):c.533T>A (p.Leu178Gln)
|
rs587777100
|
|
NM_001330260.2(SCN8A):c.1221G>C (p.Leu407Phe)
|
rs879255698
|
|
NM_001330260.2(SCN8A):c.1228G>C (p.Val410Leu)
|
rs879255699
|
|
NM_001330260.2(SCN8A):c.2537T>C (p.Phe846Ser)
|
rs879255700
|
|
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
|
|
|
NM_001330260.2(SCN8A):c.2624T>A (p.Leu875Gln)
|
rs879255701
|
|
NM_001330260.2(SCN8A):c.2668G>A (p.Ala890Thr)
|
rs879255702
|
|
NM_001330260.2(SCN8A):c.2879T>A (p.Val960Asp)
|
rs879255703
|
|
NM_001330260.2(SCN8A):c.2952C>G (p.Asn984Lys)
|
rs876657399
|
|
NM_001330260.2(SCN8A):c.3979A>G (p.Ile1327Val)
|
rs879255704
|
|
NM_001330260.2(SCN8A):c.3991C>G (p.Leu1331Val)
|
rs397514738
|
|
NM_001330260.2(SCN8A):c.4351G>A (p.Gly1451Ser)
|
rs863223345
|
|
NM_001330260.2(SCN8A):c.4397A>C (p.Asn1466Thr)
|
rs587777723
|
|
NM_001330260.2(SCN8A):c.4398C>A (p.Asn1466Lys)
|
rs587777722
|
|
NM_001330260.2(SCN8A):c.4435A>G (p.Ile1479Val)
|
rs796053217
|
|
NM_001330260.2(SCN8A):c.4447G>A (p.Glu1483Lys)
|
rs879255652
|
|
NM_001330260.2(SCN8A):c.4774G>C (p.Val1592Leu)
|
rs587780454
|
|
NM_001330260.2(SCN8A):c.4787C>G (p.Ser1596Cys)
|
rs879255705
|
|
NM_001330260.2(SCN8A):c.4813A>G (p.Ile1605Val)
|
rs879255706
|
|
NM_001330260.2(SCN8A):c.4850G>A (p.Arg1617Gln)
|
rs587777721
|
|
NM_001330260.2(SCN8A):c.4862T>G (p.Leu1621Trp)
|
rs879255707
|
|
NM_001330260.2(SCN8A):c.4873G>A (p.Gly1625Arg)
|
rs879255708
|
|
NM_001330260.2(SCN8A):c.4948G>A (p.Ala1650Thr)
|
rs879255709
|
|
NM_001330260.2(SCN8A):c.5302A>G (p.Asn1768Asp)
|
rs202151337
|
|
NM_001330260.2(SCN8A):c.5401C>G (p.Gln1801Glu)
|
rs879255710
|
|
NM_001330260.2(SCN8A):c.5610A>T (p.Glu1870Asp)
|
rs879255711
|
|
NM_001330260.2(SCN8A):c.5614C>T (p.Arg1872Trp)
|
rs796053228
|
|
NM_001330260.2(SCN8A):c.5615G>A (p.Arg1872Gln)
|
rs796053229
|
|
NM_001330260.2(SCN8A):c.779T>C (p.Phe260Ser)
|
rs879255697
|
|
NM_001330288.2(SMARCC2):c.1926+1G>T
|
rs1555221275
|
|
NM_001330311.2(DVL1):c.1580_1592del (p.His527fs)
|
rs797044834
|
|
NM_001330311.2(DVL1):c.1583del (p.Pro528fs)
|
rs797044836
|
|
NM_001330311.2(DVL1):c.1594del (p.Trp532fs)
|
rs797044835
|
|
NM_001330311.2(DVL1):c.1604del (p.Gly535fs)
|
rs797044838
|
|
NM_001330311.2(DVL1):c.1637del (p.Pro546fs)
|
rs797044839
|
|
NM_001330311.2(DVL1):c.1645_1646delinsC (p.Phe549fs)
|
rs797044833
|
|
NM_001330311.2(DVL1):c.1651_1658delinsG (p.Pro551fs)
|
rs797044840
|
|
NM_001330311.2(DVL1):c.1690del (p.Ser564fs)
|
rs797044837
|
|
NM_001347721.2(DYRK1A):c.208-28G>A
|
rs552103257
|
|
NM_001349253.2(SCN11A):c.2432T>C (p.Leu811Pro)
|
rs483352920
|
|
NM_001349253.2(SCN11A):c.3904C>T (p.Leu1302Phe)
|
rs1553633131
|
|
NM_001356.5(DDX3X):c.1052G>A (p.Arg351Gln)
|
rs1057518707
|
|
NM_001356.5(DDX3X):c.1084C>T (p.Arg362Cys)
|
rs797045026
|
|
NM_001356.5(DDX3X):c.1126C>T (p.Arg376Cys)
|
rs796052231
|
|
NM_001356.5(DDX3X):c.1127G>A (p.Arg376His)
|
rs2063908570
|
|
NM_001356.5(DDX3X):c.1399G>T (p.Ala467Ser)
|
rs2147358490
|
|
NM_001356.5(DDX3X):c.1486G>A (p.Val496Met)
|
rs1555954154
|
|
NM_001356.5(DDX3X):c.1535_1536del (p.His512fs)
|
rs796052230
|
|
NM_001356.5(DDX3X):c.1702C>T (p.Pro568Ser)
|
rs2147360044
|
|
NM_001356.5(DDX3X):c.443+3A>T
|
rs2147350644
|
|
NM_001356.5(DDX3X):c.898G>T (p.Val300Phe)
|
rs2147353947
|
|
NM_001358263.1(HK1):c.-290G>C
|
rs797044964
|
|
NM_001358921.2(COQ2):c.1047del (p.Asn351fs)
|
rs750710187
|
|
NM_001358921.2(COQ2):c.395T>G (p.Met132Arg)
|
rs1057519348
|
|
NM_001358921.2(COQ2):c.740A>G (p.Tyr247Cys)
|
rs121918230
|
|
NM_001358921.2(COQ2):c.755C>T (p.Ala252Val)
|
rs762616589
|
|
NM_001360.3(DHCR7):c.832-1G>C
|
rs80338863
|
|
NM_001360.3(DHCR7):c.906C>G (p.Phe302Leu)
|
rs80338858
|
|
NM_001360.3(DHCR7):c.964-1G>C
|
rs138659167
|
|
NM_001363.5(DKC1):c.1049T>C (p.Met350Thr)
|
rs121912300
|
|
NM_001363.5(DKC1):c.1050G>A (p.Met350Ile)
|
rs121912298
|
|
NM_001363.5(DKC1):c.1058C>T (p.Ala353Val)
|
rs121912288
|
|
NM_001363.5(DKC1):c.106T>G (p.Phe36Val)
|
rs121912293
|
|
NM_001363.5(DKC1):c.109_111del (p.Leu37del)
|
rs137854489
|
|
NM_001363.5(DKC1):c.113T>C (p.Ile38Thr)
|
rs28936072
|
|
NM_001363.5(DKC1):c.1150C>T (p.Pro384Ser)
|
rs199422250
|
|
NM_001363.5(DKC1):c.1151C>T (p.Pro384Leu)
|
rs199422251
|
|
NM_001363.5(DKC1):c.1156G>A (p.Ala386Thr)
|
rs199422252
|
|
NM_001363.5(DKC1):c.115A>G (p.Lys39Glu)
|
rs121912296
|
|
NM_001363.5(DKC1):c.1193T>C (p.Leu398Pro)
|
rs199422253
|
|
NM_001363.5(DKC1):c.119C>G (p.Pro40Arg)
|
rs121912292
|
|
NM_001363.5(DKC1):c.1204G>A (p.Gly402Arg)
|
rs121912299
|
|
NM_001363.5(DKC1):c.1205G>A (p.Gly402Glu)
|
rs121912295
|
|
NM_001363.5(DKC1):c.121G>A (p.Glu41Lys)
|
rs121912302
|
|
NM_001363.5(DKC1):c.1223C>T (p.Thr408Ile)
|
rs199422254
|
|
NM_001363.5(DKC1):c.1226C>T (p.Pro409Leu)
|
rs121912289
|
|
NM_001363.5(DKC1):c.127A>G (p.Lys43Glu)
|
rs199422243
|
|
NM_001363.5(DKC1):c.146C>T (p.Thr49Met)
|
rs121912304
|
|
NM_001363.5(DKC1):c.194G>C (p.Arg65Thr)
|
rs121912301
|
|
NM_001363.5(DKC1):c.196A>G (p.Thr66Ala)
|
rs121912297
|
|
NM_001363.5(DKC1):c.200C>T (p.Thr67Ile)
|
rs199422244
|
|
NM_001363.5(DKC1):c.204C>A (p.His68Gln)
|
rs199422245
|
|
NM_001363.5(DKC1):c.29C>T (p.Pro10Leu)
|
rs199422242
|
|
NM_001363.5(DKC1):c.361A>G (p.Ser121Gly)
|
rs121912305
|
|
NM_001363.5(DKC1):c.472C>T (p.Arg158Trp)
|
rs199422246
|
|
NM_001363.5(DKC1):c.5C>T (p.Ala2Val)
|
rs121912303
|
|
NM_001363.5(DKC1):c.911G>A (p.Ser304Asn)
|
rs199422247
|
|
NM_001363.5(DKC1):c.91C>A (p.Gln31Lys)
|
rs137854491
|
|
NM_001363.5(DKC1):c.91C>G (p.Gln31Glu)
|
rs137854491
|
|
NM_001363.5(DKC1):c.941A>G (p.Lys314Arg)
|
rs199422248
|
|
NM_001363.5(DKC1):c.949C>G (p.Leu317Val)
|
rs121912290
|
|
NM_001363.5(DKC1):c.949C>T (p.Leu317Phe)
|
rs121912290
|
|
NM_001363.5(DKC1):c.961C>G (p.Leu321Val)
|
rs2728726
|
|
NM_001363.5(DKC1):c.965G>A (p.Arg322Gln)
|
rs121912291
|
|
NM_001363118.2(SLC52A2):c.1255G>A (p.Gly419Ser)
|
rs397514658
|
|
NM_001363118.2(SLC52A2):c.700C>T (p.Gln234Ter)
|
rs797045200
|
|
NM_001363118.2(SLC52A2):c.851C>A (p.Ala284Asp)
|
rs398123067
|
|
NM_001365088.1(SLC12A6):c.1478_1485del (p.Phe493fs)
|
rs515726218
|
|
NM_001365088.1(SLC12A6):c.1584_1585delinsG (p.Phe529fs)
|
rs515726216
|
|
NM_001365088.1(SLC12A6):c.2023C>T (p.Arg675Ter)
|
rs121908428
|
|
NM_001365088.1(SLC12A6):c.2032dup (p.Tyr678fs)
|
rs515726217
|
|
NM_001365088.1(SLC12A6):c.2436+1del
|
rs515726215
|
|
NM_001365536.1(SCN9A):c.1185C>A (p.Asn395Lys)
|
rs80356471
|
|
NM_001365536.1(SCN9A):c.1198G>A (p.Val400Met)
|
rs1553491169
|
|
NM_001365536.1(SCN9A):c.1828C>A (p.Pro610Thr)
|
rs41268673
|
|
NM_001365536.1(SCN9A):c.2501T>G (p.Leu834Arg)
|
rs80356473
|
|
NM_001365536.1(SCN9A):c.2576T>C (p.Ile859Thr)
|
rs80356474
|
|
NM_001365536.1(SCN9A):c.2605C>T (p.Leu869Phe)
|
rs80356476
|
|
NM_001365536.1(SCN9A):c.2606T>A (p.Leu869His)
|
rs80356475
|
|
NM_001365536.1(SCN9A):c.2620G>C (p.Ala874Pro)
|
rs80356477
|
|
NM_001365536.1(SCN9A):c.406A>G (p.Ile136Val)
|
rs80356468
|
|
NM_001365536.1(SCN9A):c.4378T>G (p.Phe1460Val)
|
rs80356478
|
|
NM_001365536.1(SCN9A):c.616A>G (p.Asn206Asp)
|
rs80356466
|
|
NM_001365536.1(SCN9A):c.647T>C (p.Phe216Ser)
|
rs80356469
|
|
NM_001365536.1(SCN9A):c.701T>C (p.Ile234Thr)
|
rs1698638581
|
|
NM_001365536.1(SCN9A):c.721T>A (p.Ser241Thr)
|
rs80356470
|
|
NM_001368067.1(LDB3):c.440C>T (p.Ala147Val)
|
rs281865143
|
|
NM_001368894.2(PAX6):c.1309dup (p.Ter437LeuextTer?)
|
rs1592348310
|
|
NM_001370298.3(FGD4):c.1304T>C (p.Met435Thr)
|
rs63749871
|
|
NM_001370298.3(FGD4):c.1304T>G (p.Met435Arg)
|
rs63749871
|
|
NM_001370298.3(FGD4):c.1736G>A (p.Arg579His)
|
rs281865063
|
|
NM_001370298.3(FGD4):c.2109G>H (p.Met703Ile)
|
rs281865064
|
|
NM_001370298.3(FGD4):c.2173-2A>G
|
rs281865065
|
|
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs)
|
rs80338684
|
|
NM_001371596.2(MFSD8):c.881C>A (p.Thr294Lys)
|
rs140948465
|
|
NM_001371623.1(TCOF1):c.1021_1022del (p.Ser341fs)
|
rs1763212034
|
|
NM_001371623.1(TCOF1):c.2490del (p.Pro830_Val831insTer)
|
|
|
NM_001371623.1(TCOF1):c.2853dup (p.Ala952fs)
|
|
|
NM_001371623.1(TCOF1):c.4372_4376del (p.Lys1458fs)
|
rs587776582
|
|
NM_001371928.1(AHDC1):c.2373_2374del (p.Cys791fs)
|
rs587779766
|
|
NM_001371928.1(AHDC1):c.2773C>T (p.Arg925Ter)
|
rs777736953
|
|
NM_001371928.1(AHDC1):c.2908C>T (p.Gln970Ter)
|
rs886041781
|
|
NM_001372044.2(SHANK3):c.4156del (p.Glu1386fs)
|
rs1555910219
|
|
NM_001374385.1(ATP8B1):c.1660G>A (p.Asp554Asn)
|
rs121909101
|
|
NM_001374385.1(ATP8B1):c.627+5G>T
|
rs745696446
|
|
NM_001374623.1(PNPLA1):c.387C>A (p.Asp129Glu)
|
rs200806519
|
|
NM_001374828.1(ARID1B):c.1099C>T (p.Gln367Ter)
|
rs1583025138
|
|
NM_001374828.1(ARID1B):c.1508del (p.Asn503fs)
|
rs1583026682
|
|
NM_001375380.1(EBF3):c.487C>T (p.Arg163Trp)
|
rs1057519092
|
|
NM_001375380.1(EBF3):c.488G>A (p.Arg163Gln)
|
rs1057519389
|
|
NM_001375380.1(EBF3):c.488G>C (p.Arg163Pro)
|
rs1057519389
|
|
NM_001375380.1(EBF3):c.488G>T (p.Arg163Leu)
|
rs1057519389
|
|
NM_001375380.1(EBF3):c.512G>A (p.Gly171Asp)
|
rs1057519437
|
|
NM_001375380.1(EBF3):c.616C>T (p.Arg206Ter)
|
rs1057519522
|
|
NM_001375380.1(EBF3):c.625C>T (p.Arg209Trp)
|
rs779003155
|
|
NM_001375380.1(EBF3):c.626G>A (p.Arg209Gln)
|
rs1131692261
|
|
NM_001375808.2(LPIN2):c.1316_1317del (p.Ser439fs)
|
rs318240736
|
|
NM_001375808.2(LPIN2):c.2327+1G>C
|
rs80338808
|
|
NM_001375808.2(LPIN2):c.540_541del (p.Thr180_Cys181insTer)
|
rs80338806
|
|
NM_001377295.2(GNAT2):c.461+24G>A
|
rs397515384
|
|
NM_001378120.1(MBD5):c.150del (p.Thr52fs)
|
rs398122412
|
|
NM_001378120.1(MBD5):c.340_347del (p.Lys114fs)
|
rs794727928
|
|
NM_001378120.1(MBD5):c.440C>G (p.Ser147Ter)
|
rs886041003
|
|
NM_001378120.1(MBD5):c.890_891del (p.Ile297fs)
|
rs796052719
|
|
NM_001378452.1(ITPR1):c.3248C>T (p.Pro1083Leu)
|
rs121912425
|
|
NM_001379610.1(SPINK1):c.150T>G (p.Asp50Glu)
|
rs515726206
|
|
NM_001379610.1(SPINK1):c.160T>C (p.Tyr54His)
|
rs515726207
|
|
NM_001382391.1(CSPP1):c.255_256del (p.His85fs)
|
rs1554562278
|
|
NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys)
|
rs121434592
|
|
NM_001384140.1(PCDH15):c.158-1G>A
|
rs876657418
|
|
NM_001384140.1(PCDH15):c.16del (p.Tyr6fs)
|
rs397517451
|
|
NM_001384140.1(PCDH15):c.394dup (p.Glu132fs)
|
rs397515566
|
|
NM_001384732.1(CPLANE1):c.6354dup (p.Ile2119fs)
|
rs1188561908
|
|
NM_001384732.1(CPLANE1):c.6407del (p.Pro2136fs)
|
rs367543064
|
|
NM_001386140.1(MTTP):c.1304T>A (p.Leu435His)
|
rs1560621495
|
|
NM_001386140.1(MTTP):c.1769G>T (p.Ser590Ile)
|
rs199422222
|
|
NM_001386140.1(MTTP):c.2237G>A (p.Gly746Glu)
|
rs767833468
|
|
NM_001386140.1(MTTP):c.2338A>T (p.Asn780Tyr)
|
rs199422221
|
|
NM_001394148.2(LOC128706665):c.-56_-47dup
|
rs16996729
|
|
NM_001406511.1(ATP7B):c.-55+244_-55+258del
|
rs879255499
|
|
NM_001457.4(FLNB):c.1081G>A (p.Gly361Ser)
|
rs80356509
|
|
NM_001457.4(FLNB):c.1088G>A (p.Gly363Glu)
|
rs80356510
|
|
NM_001457.4(FLNB):c.1945C>T (p.Arg649Ter)
|
rs80356517
|
|
NM_001457.4(FLNB):c.4292T>G (p.Leu1431Arg)
|
rs80356511
|
|
NM_001457.4(FLNB):c.442T>A (p.Trp148Arg)
|
rs80356493
|
|
NM_001457.4(FLNB):c.4713_4715del (p.Asn1571del)
|
rs80356512
|
|
NM_001457.4(FLNB):c.4747_4749del (p.Asp1583del)
|
rs80356498
|
|
NM_001457.4(FLNB):c.4756G>A (p.Gly1586Arg)
|
rs80356513
|
|
NM_001457.4(FLNB):c.4775T>A (p.Val1592Asp)
|
rs80356514
|
|
NM_001457.4(FLNB):c.4804T>C (p.Ser1602Pro)
|
rs80356501
|
|
NM_001457.4(FLNB):c.4808C>T (p.Pro1603Leu)
|
rs80356515
|
|
NM_001457.4(FLNB):c.482T>G (p.Phe161Cys)
|
rs80356506
|
|
NM_001457.4(FLNB):c.4835G>A (p.Gly1612Asp)
|
rs80356505
|
|
NM_001457.4(FLNB):c.4927G>T (p.Ala1643Ser)
|
rs80356502
|
|
NM_001457.4(FLNB):c.502G>A (p.Gly168Ser)
|
rs80356504
|
|
NM_001457.4(FLNB):c.5071G>A (p.Gly1691Ser)
|
rs80356503
|
|
NM_001457.4(FLNB):c.512T>A (p.Leu171Gln)
|
rs80356494
|
|
NM_001457.4(FLNB):c.542G>T (p.Gly181Val)
|
rs80356495
|
|
NM_001457.4(FLNB):c.549C>G (p.Cys183Trp)
|
rs80356496
|
|
NM_001457.4(FLNB):c.5500G>A (p.Gly1834Arg)
|
rs80356516
|
|
NM_001457.4(FLNB):c.602C>T (p.Ala201Val)
|
rs80356499
|
|
NM_001457.4(FLNB):c.608A>C (p.Gln203Pro)
|
rs80356497
|
|
NM_001457.4(FLNB):c.629G>T (p.Gly210Val)
|
rs80356500
|
|
NM_001457.4(FLNB):c.6408del (p.Ser2137fs)
|
rs80356521
|
|
NM_001457.4(FLNB):c.679G>A (p.Glu227Lys)
|
rs80356508
|
|
NM_001457.4(FLNB):c.700C>G (p.Leu234Val)
|
rs80356507
|
|
NM_001457.4(FLNB):c.7029T>G (p.Tyr2343Ter)
|
rs80356518
|
|
NM_001482.3(GATM):c.1111dup (p.Met371fs)
|
rs397515542
|
|
NM_001482.3(GATM):c.446G>A (p.Trp149Ter)
|
rs80338737
|
|
NM_001614.5(ACTG1):c.608C>T (p.Thr203Met)
|
rs281875327
|
|
NM_001615.4(ACTG2):c.118C>T (p.Arg40Cys)
|
rs587777385
|
|
NM_001615.4(ACTG2):c.119G>A (p.Arg40His)
|
rs587777386
|
|
NM_001615.4(ACTG2):c.187C>G (p.Arg63Gly)
|
rs864309491
|
|
NM_001615.4(ACTG2):c.532C>T (p.Arg178Cys)
|
rs78001248
|
|
NM_001615.4(ACTG2):c.533G>A (p.Arg178His)
|
rs587777384
|
|
NM_001615.4(ACTG2):c.533G>T (p.Arg178Leu)
|
rs587777384
|
|
NM_001615.4(ACTG2):c.632G>A (p.Arg211Gln)
|
rs1553396458
|
|
NM_001615.4(ACTG2):c.769C>T (p.Arg257Cys)
|
rs587777387
|
|
NM_001615.4(ACTG2):c.770G>A (p.Arg257His)
|
rs797044959
|
|
NM_001701.4(BAAT):c.858C>G (p.Ser286=)
|
rs80356746
|
|
NM_001701.4(BAAT):c.967A>G (p.Ile323Val)
|
rs80356747
|
|
NM_001739.2(CA5A):c.619-3421_774+502del
|
|
|
NM_001759.4(CCND2):c.808A>T (p.Lys270Ter)
|
rs587777619
|
|
NM_001759.4(CCND2):c.838A>G (p.Thr280Ala)
|
rs587777618
|
|
NM_001759.4(CCND2):c.839C>A (p.Thr280Asn)
|
rs587777620
|
|
NM_001759.4(CCND2):c.842C>G (p.Pro281Arg)
|
rs587777622
|
|
NM_001844.5(COL2A1):c.1034G>A (p.Gly345Asp)
|
rs1939617011
|
|
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter)
|
rs121912893
|
|
NM_001844.5(COL2A1):c.1999C>T (p.Leu667Phe)
|
rs121912885
|
|
NM_001844.5(COL2A1):c.2833G>A (p.Gly945Ser)
|
rs886039542
|
|
NM_001844.5(COL2A1):c.541G>C (p.Ala181Pro)
|
rs1939975439
|
|
NM_001845.6(COL4A1):c.1493G>T (p.Gly498Val)
|
rs113994104
|
|
NM_001845.6(COL4A1):c.1555G>A (p.Gly519Arg)
|
rs113994105
|
|
NM_001845.6(COL4A1):c.1583G>A (p.Gly528Glu)
|
rs113994106
|
|
NM_001845.6(COL4A1):c.1769G>A (p.Gly590Glu)
|
rs113994107
|
|
NM_001845.6(COL4A1):c.1A>T (p.Met1Leu)
|
rs113994103
|
|
NM_001845.6(COL4A1):c.2159G>A (p.Gly720Asp)
|
rs113994108
|
|
NM_001845.6(COL4A1):c.2245G>A (p.Gly749Ser)
|
rs113994109
|
|
NM_001845.6(COL4A1):c.3389G>A (p.Gly1130Asp)
|
rs113994111
|
|
NM_001845.6(COL4A1):c.3706G>A (p.Gly1236Arg)
|
rs113994112
|
|
NM_001845.6(COL4A1):c.4267G>C (p.Gly1423Arg)
|
rs113994113
|
|
NM_001845.6(COL4A1):c.4738G>C (p.Gly1580Arg)
|
rs113994114
|
|
NM_001848.3(COL6A1):c.1056+1G>A
|
rs398123631
|
|
NM_001848.3(COL6A1):c.1056+5G>A
|
rs886044511
|
|
NM_001848.3(COL6A1):c.930+189C>T
|
rs1556425596
|
|
NM_001849.4(COL6A2):c.2455C>T (p.Gln819Ter)
|
rs121912942
|
|
NM_001851.6(COL9A1):c.883C>T (p.Arg295Ter)
|
rs121912931
|
|
NM_001852.4(COL9A2):c.843_846+4del
|
rs606231376
|
|
NM_001866.2(COX7B):c.55C>T (p.Gln19Ter)
|
rs397514585
|
|
NM_001866.3(COX7B):c.196del (p.Leu66fs)
|
rs397514583
|
|
NM_001866.3(COX7B):c.41-2A>G
|
rs397514584
|
|
NM_001876.4(CPT1A):c.1079A>G (p.Glu360Gly)
|
rs80356787
|
|
NM_001876.4(CPT1A):c.1241C>T (p.Ala414Val)
|
rs80356790
|
|
NM_001876.4(CPT1A):c.1361A>G (p.Asp454Gly)
|
rs80356778
|
|
NM_001876.4(CPT1A):c.1393G>T (p.Gly465Trp)
|
rs80356784
|
|
NM_001876.4(CPT1A):c.1395G>T (p.Gly465=)
|
rs774577615
|
|
NM_001876.4(CPT1A):c.1425G>A (p.Trp475Ter)
|
rs80356794
|
|
NM_001876.4(CPT1A):c.1451T>C (p.Leu484Pro)
|
rs80356793
|
|
NM_001876.4(CPT1A):c.1493A>G (p.Tyr498Cys)
|
rs80356791
|
|
NM_001876.4(CPT1A):c.1494T>A (p.Tyr498Ter)
|
rs80356795
|
|
NM_001876.4(CPT1A):c.1600del (p.Ser533_Leu534insTer)
|
rs80356801
|
|
NM_001876.4(CPT1A):c.1737C>A (p.Tyr579Ter)
|
rs80356785
|
|
NM_001876.4(CPT1A):c.2028+3_2028+6del
|
rs80356799
|
|
NM_001876.4(CPT1A):c.2126G>A (p.Gly709Glu)
|
rs28936374
|
|
NM_001876.4(CPT1A):c.298C>T (p.Gln100Ter)
|
rs80356774
|
|
NM_001876.4(CPT1A):c.478C>T (p.Arg160Ter)
|
rs80356782
|
|
NM_001876.4(CPT1A):c.912C>G (p.Cys304Trp)
|
rs80356789
|
|
NM_001876.4(CPT1A):c.941C>T (p.Thr314Ile)
|
rs80356776
|
|
NM_001876.4(CPT1A):c.948del (p.Ile317fs)
|
rs80356800
|
|
NM_001876.4(CPT1A):c.96T>G (p.Tyr32Ter)
|
rs80356786
|
|
NM_001920.5(DCN):c.1036T>G (p.Cys346Gly)
|
|
|
NM_001920.5(DCN):c.941del (p.Pro314fs)
|
rs80338742
|
|
NM_001920.5(DCN):c.947del (p.Gly316fs)
|
rs397515545
|
|
NM_001920.5(DCN):c.962del (p.Lys321fs)
|
rs587777258
|
|
NM_001920.5(DCN):c.967del (p.Ser323fs)
|
rs80338741
|
|
NM_001927.4(DES):c.521_541del (p.Ala174_Arg180del)
|
rs60538473
|
|
NM_001953.4(TYMP):c.929-3G>A
|
|
|
NM_001953.4(TYMP):c.929-6_929-3del
|
rs201685922
|
|
NM_001953.5(TYMP):c.1010_1019delinsAA (p.Gly337fs)
|
rs1064792892
|
|
NM_001953.5(TYMP):c.1067T>C (p.Leu356Pro)
|
rs1060499532
|
|
NM_001953.5(TYMP):c.1088del (p.Gly363fs)
|
rs1060499535
|
|
NM_001953.5(TYMP):c.1112T>C (p.Leu371Pro)
|
rs1060499533
|
|
NM_001953.5(TYMP):c.112G>T (p.Glu38Ter)
|
rs1054084896
|
|
NM_001953.5(TYMP):c.1159+2T>A
|
rs770277446
|
|
NM_001953.5(TYMP):c.1160-1G>C
|
rs797044455
|
|
NM_001953.5(TYMP):c.1160-2A>C
|
rs1064792877
|
|
NM_001953.5(TYMP):c.1160-2A>G
|
rs1064792877
|
|
NM_001953.5(TYMP):c.1160G>A (p.Gly387Asp)
|
rs1064792873
|
|
NM_001953.5(TYMP):c.1187CGCTGG[1] (p.Ala398_Leu399del)
|
rs786205098
|
|
NM_001953.5(TYMP):c.1211dup (p.Gly405fs)
|
rs1556486467
|
|
NM_001953.5(TYMP):c.1282G>A (p.Gly428Ser)
|
rs1064792874
|
|
NM_001953.5(TYMP):c.1300+2T>A
|
rs1064792879
|
|
NM_001953.5(TYMP):c.1301-1G>A
|
rs773785934
|
|
NM_001953.5(TYMP):c.1311del (p.Trp437fs)
|
rs1064792889
|
|
NM_001953.5(TYMP):c.131G>A (p.Arg44Gln)
|
rs28931613
|
|
NM_001953.5(TYMP):c.1327_1346del (p.Asp443fs)
|
rs1064792890
|
|
NM_001953.5(TYMP):c.1351dup (p.Gln451fs)
|
rs1556486029
|
|
NM_001953.5(TYMP):c.1360G>C (p.Ala454Pro)
|
rs764275775
|
|
NM_001953.5(TYMP):c.1395_1400del (p.Pro466_Phe467del)
|
rs1064792891
|
|
NM_001953.5(TYMP):c.1412C>A (p.Ser471Ter)
|
rs11479
|
|
NM_001953.5(TYMP):c.1431dup (p.Leu478fs)
|
rs1064792885
|
|
NM_001953.5(TYMP):c.146T>G (p.Leu49Arg)
|
rs1064792857
|
|
NM_001953.5(TYMP):c.162C>G (p.Ile54Met)
|
rs1064792858
|
|
NM_001953.5(TYMP):c.228G>A (p.Met76Ile)
|
rs1064792859
|
|
NM_001953.5(TYMP):c.261G>C (p.Glu87Asp)
|
rs749827433
|
|
NM_001953.5(TYMP):c.261G>T (p.Glu87Asp)
|
rs749827433
|
|
NM_001953.5(TYMP):c.263_264del (p.Thr88fs)
|
rs1064792886
|
|
NM_001953.5(TYMP):c.275C>A (p.Thr92Asn)
|
rs891107196
|
|
NM_001953.5(TYMP):c.328C>T (p.Gln110Ter)
|
rs1064792860
|
|
NM_001953.5(TYMP):c.398T>C (p.Leu133Pro)
|
rs1064792862
|
|
NM_001953.5(TYMP):c.401C>A (p.Ala134Glu)
|
rs199901350
|
|
NM_001953.5(TYMP):c.467A>G (p.Asp156Gly)
|
rs1064792863
|
|
NM_001953.5(TYMP):c.478T>C (p.Ser160Pro)
|
rs1064792864
|
|
NM_001953.5(TYMP):c.516+2T>C
|
rs797044454
|
|
NM_001953.5(TYMP):c.518T>G (p.Met173Arg)
|
rs1064792865
|
|
NM_001953.5(TYMP):c.530T>C (p.Leu177Pro)
|
rs1064792866
|
|
NM_001953.5(TYMP):c.605G>A (p.Arg202Lys)
|
rs121913041
|
|
NM_001953.5(TYMP):c.605G>C (p.Arg202Thr)
|
rs121913041
|
|
NM_001953.5(TYMP):c.623T>G (p.Val208Gly)
|
rs1064792867
|
|
NM_001953.5(TYMP):c.707T>C (p.Phe236Ser)
|
rs1064792868
|
|
NM_001953.5(TYMP):c.715G>A (p.Ala239Thr)
|
rs1064792869
|
|
NM_001953.5(TYMP):c.720del (p.Val241fs)
|
rs1064792887
|
|
NM_001953.5(TYMP):c.784del (p.Ser261_Leu262insTer)
|
rs1064792888
|
|
NM_001953.5(TYMP):c.847C>G (p.His283Asp)
|
rs1064792871
|
|
NM_001953.5(TYMP):c.893G>A (p.Gly298Asp)
|
rs1064792872
|
|
NM_001953.5(TYMP):c.928+1G>A
|
rs1064792876
|
|
NM_001953.5(TYMP):c.931G>C (p.Gly311Arg)
|
rs121913040
|
|
NM_001953.5(TYMP):c.931G>T (p.Gly311Cys)
|
rs121913040
|
|
NM_001953.5(TYMP):c.938T>C (p.Leu313Pro)
|
rs892141220
|
|
NM_001953.5(TYMP):c.966T>C (p.Thr322=)
|
rs1064792856
|
|
NM_001953.5(TYMP):c.994_1011dup (p.Gly337_Ser338insAlaAlaLeuAspAspGly)
|
rs1064792881
|
|
NM_001953.5(TYMP):c.99dup (p.Lys34fs)
|
rs1064792880
|
|
NM_001972.4(ELANE):c.211T>C (p.Cys71Arg)
|
rs28931611
|
|
NM_001972.4(ELANE):c.377C>T (p.Ser126Leu)
|
rs137854450
|
|
NM_001972.4(ELANE):c.416C>T (p.Pro139Leu)
|
rs137854448
|
|
NM_001972.4(ELANE):c.452G>A (p.Cys151Tyr)
|
rs57246956
|
|
NM_001972.4(ELANE):c.640G>C (p.Gly214Arg)
|
|
|
NM_001983.4(ERCC1):c.676A>T (p.Lys226Ter)
|
rs886039224
|
|
NM_001983.4(ERCC1):c.693C>G (p.Phe231Leu)
|
rs121913028
|
|
NM_001987.5(ETV6):c.641C>T (p.Pro214Leu)
|
rs724159947
|
|
NM_001999.4(FBN2):c.2773G>A (p.Gly925Arg)
|
rs111405756
|
|
NM_001999.4(FBN2):c.4346-2A>T
|
rs587776518
|
|
NM_002047.4(GARS1):c.1000A>T (p.Ile334Phe)
|
rs1554338260
|
|
NM_002047.4(GARS1):c.1001T>A (p.Ile334Asn)
|
rs1554338262
|
|
NM_002047.4(GARS1):c.1415A>G (p.His472Arg)
|
rs1060502838
|
|
NM_002047.4(GARS1):c.1738G>C (p.Gly580Arg)
|
rs137852646
|
|
NM_002047.4(GARS1):c.1954G>C (p.Gly652Arg)
|
rs1783251037
|
|
NM_002047.4(GARS1):c.1955G>C (p.Gly652Ala)
|
rs747080824
|
|
NM_002047.4(GARS1):c.374A>G (p.Glu125Gly)
|
rs137852645
|
|
NM_002047.4(GARS1):c.548T>C (p.Leu183Pro)
|
rs137852644
|
|
NM_002047.4(GARS1):c.598G>T (p.Asp200Tyr)
|
rs1554337369
|
|
NM_002047.4(GARS1):c.880G>C (p.Gly294Arg)
|
rs137852643
|
|
NM_002047.4(GARS1):c.893C>T (p.Pro298Leu)
|
rs137852648
|
|
NM_002049.4(GATA1):c.1240T>C (p.Ter414Arg)
|
rs587776456
|
|
NM_002049.4(GATA1):c.220+1del
|
rs587776453
|
|
NM_002049.4(GATA1):c.220G>C (p.Val74Leu)
|
rs587776452
|
|
NM_002049.4(GATA1):c.2T>C (p.Met1Thr)
|
rs587776451
|
|
NM_002049.4(GATA1):c.613G>A (p.Val205Met)
|
rs104894815
|
|
NM_002049.4(GATA1):c.622G>C (p.Gly208Arg)
|
rs587776454
|
|
NM_002049.4(GATA1):c.622_623delinsTC (p.Gly208Ser)
|
rs137852312
|
|
NM_002049.4(GATA1):c.646C>T (p.Arg216Trp)
|
rs387907207
|
|
NM_002049.4(GATA1):c.652G>T (p.Asp218Tyr)
|
rs104894808
|
|
NM_002049.4(GATA1):c.653A>G (p.Asp218Gly)
|
rs104894816
|
|
NM_002055.4(GFAP):c.[236G>A;667G>C]
|
|
|
NM_002055.4(GFAP):c.[988C>G;994G>A]
|
|
|
NM_002055.5(GFAP):c.1049_1050insCTTGCA (p.Tyr349_Gln350insHisLeu)
|
rs797044584
|
|
NM_002055.5(GFAP):c.1051G>C (p.Asp351His)
|
rs797044585
|
|
NM_002055.5(GFAP):c.1055T>C (p.Leu352Pro)
|
rs28932769
|
|
NM_002055.5(GFAP):c.1070T>C (p.Leu357Pro)
|
rs267607515
|
|
NM_002055.5(GFAP):c.1073C>T (p.Ala358Val)
|
rs797044586
|
|
NM_002055.5(GFAP):c.1074C>G (p.Ala358=)
|
rs797044587
|
|
NM_002055.5(GFAP):c.1075C>G (p.Leu359Val)
|
rs60825166
|
|
NM_002055.5(GFAP):c.1076T>C (p.Leu359Pro)
|
rs267607511
|
|
NM_002055.5(GFAP):c.1079A>T (p.Asp360Val)
|
rs62636501
|
|
NM_002055.5(GFAP):c.1085A>G (p.Glu362Gly)
|
rs797044588
|
|
NM_002055.5(GFAP):c.1086G>C (p.Glu362Asp)
|
rs121909718
|
|
NM_002055.5(GFAP):c.1090G>A (p.Ala364Thr)
|
rs58645997
|
|
NM_002055.5(GFAP):c.1090G>C (p.Ala364Pro)
|
rs58645997
|
|
NM_002055.5(GFAP):c.1091C>T (p.Ala364Val)
|
rs267607503
|
|
NM_002055.5(GFAP):c.1096T>C (p.Tyr366His)
|
rs58008462
|
|
NM_002055.5(GFAP):c.1097A>G (p.Tyr366Cys)
|
rs267607502
|
|
NM_002055.5(GFAP):c.1111G>C (p.Glu371Gln)
|
rs267607526
|
|
NM_002055.5(GFAP):c.1112A>G (p.Glu371Gly)
|
rs57815192
|
|
NM_002055.5(GFAP):c.1112A>T (p.Glu371Val)
|
rs57815192
|
|
NM_002055.5(GFAP):c.1117G>A (p.Glu373Lys)
|
rs58075601
|
|
NM_002055.5(GFAP):c.1117G>C (p.Glu373Gln)
|
rs58075601
|
|
NM_002055.5(GFAP):c.1118A>C (p.Glu373Ala)
|
rs797044589
|
|
NM_002055.5(GFAP):c.1121A>G (p.Glu374Gly)
|
rs59628143
|
|
NM_002055.5(GFAP):c.1126C>T (p.Arg376Trp)
|
rs267607512
|
|
NM_002055.5(GFAP):c.1148C>T (p.Thr383Ile)
|
rs267607517
|
|
NM_002055.5(GFAP):c.1154C>T (p.Ser385Phe)
|
rs797044590
|
|
NM_002055.5(GFAP):c.1157A>T (p.Asn386Ile)
|
rs61726471
|
|
NM_002055.5(GFAP):c.1171+472G>A
|
rs748860341
|
|
NM_002055.5(GFAP):c.1171+475_1171+482delinsATC
|
rs797044592
|
|
NM_002055.5(GFAP):c.1178G>T (p.Ser393Ile)
|
rs62635764
|
|
NM_002055.5(GFAP):c.1193C>A (p.Ser398Tyr)
|
rs267607508
|
|
NM_002055.5(GFAP):c.1193C>T (p.Ser398Phe)
|
rs267607508
|
|
NM_002055.5(GFAP):c.1246C>T (p.Arg416Trp)
|
rs121909717
|
|
NM_002055.5(GFAP):c.1249del (p.Asp417fs)
|
rs797044591
|
|
NM_002055.5(GFAP):c.1250A>C (p.Asp417Ala)
|
rs267607520
|
|
NM_002055.5(GFAP):c.1277A>T (p.Gln426Leu)
|
rs267607521
|
|
NM_002055.5(GFAP):c.187A>C (p.Lys63Gln)
|
rs60095124
|
|
NM_002055.5(GFAP):c.197G>A (p.Arg66Gln)
|
rs797044569
|
|
NM_002055.5(GFAP):c.205G>A (p.Glu69Lys)
|
rs797044570
|
|
NM_002055.5(GFAP):c.208C>T (p.Arg70Trp)
|
rs60343255
|
|
NM_002055.5(GFAP):c.209G>A (p.Arg70Gln)
|
rs267607510
|
|
NM_002055.5(GFAP):c.214G>A (p.Glu72Lys)
|
rs267607523
|
|
NM_002055.5(GFAP):c.218T>A (p.Met73Lys)
|
rs61060395
|
|
NM_002055.5(GFAP):c.218T>C (p.Met73Thr)
|
rs61060395
|
|
NM_002055.5(GFAP):c.218T>G (p.Met73Arg)
|
rs61060395
|
|
NM_002055.5(GFAP):c.221T>C (p.Met74Thr)
|
rs267607504
|
|
NM_002055.5(GFAP):c.226C>G (p.Leu76Val)
|
rs57120761
|
|
NM_002055.5(GFAP):c.226C>T (p.Leu76Phe)
|
rs57120761
|
|
NM_002055.5(GFAP):c.229A>T (p.Asn77Tyr)
|
rs58732244
|
|
NM_002055.5(GFAP):c.230A>G (p.Asn77Ser)
|
rs57590980
|
|
NM_002055.5(GFAP):c.232G>A (p.Asp78Asn)
|
rs797044571
|
|
NM_002055.5(GFAP):c.234C>A (p.Asp78Glu)
|
rs121909720
|
|
NM_002055.5(GFAP):c.235C>G (p.Arg79Gly)
|
rs59793293
|
|
NM_002055.5(GFAP):c.235C>T (p.Arg79Cys)
|
rs59793293
|
|
NM_002055.5(GFAP):c.236G>A (p.Arg79His)
|
rs59285727
|
|
NM_002055.5(GFAP):c.236G>C (p.Arg79Pro)
|
rs59285727
|
|
NM_002055.5(GFAP):c.236G>T (p.Arg79Leu)
|
rs59285727
|
|
NM_002055.5(GFAP):c.239T>C (p.Phe80Ser)
|
rs797044572
|
|
NM_002055.5(GFAP):c.247T>C (p.Tyr83His)
|
rs267607506
|
|
NM_002055.5(GFAP):c.256A>G (p.Lys86Glu)
|
rs797044573
|
|
NM_002055.5(GFAP):c.256_259delinsGAGT (p.Lys86_Val87delinsGluPhe)
|
rs267607501
|
|
NM_002055.5(GFAP):c.259G>A (p.Val87Ile)
|
rs267607518
|
|
NM_002055.5(GFAP):c.259G>C (p.Val87Leu)
|
rs267607518
|
|
NM_002055.5(GFAP):c.260T>G (p.Val87Gly)
|
rs60449251
|
|
NM_002055.5(GFAP):c.262C>A (p.Arg88Ser)
|
rs61622935
|
|
NM_002055.5(GFAP):c.262C>T (p.Arg88Cys)
|
rs61622935
|
|
NM_002055.5(GFAP):c.269T>C (p.Leu90Pro)
|
rs59661476
|
|
NM_002055.5(GFAP):c.278A>C (p.Gln93Pro)
|
rs797044574
|
|
NM_002055.5(GFAP):c.290T>C (p.Leu97Pro)
|
rs59568967
|
|
NM_002055.5(GFAP):c.302T>C (p.Leu101Pro)
|
rs267607516
|
|
NM_002055.5(GFAP):c.365_373dup (p.Arg124_Leu125insGlnLeuArg)
|
rs797044575
|
|
NM_002055.5(GFAP):c.369GCGGCT[3] (p.124RL[3])
|
rs797044576
|
|
NM_002055.5(GFAP):c.382G>A (p.Asp128Asn)
|
rs267607509
|
|
NM_002055.5(GFAP):c.613G>A (p.Glu205Lys)
|
rs267607507
|
|
NM_002055.5(GFAP):c.619-3C>G
|
rs112611995
|
|
NM_002055.5(GFAP):c.619G>A (p.Glu207Lys)
|
rs267607500
|
|
NM_002055.5(GFAP):c.619G>C (p.Glu207Gln)
|
rs267607500
|
|
NM_002055.5(GFAP):c.628G>A (p.Glu210Lys)
|
rs57661783
|
|
NM_002055.5(GFAP):c.692T>A (p.Leu231His)
|
rs797044577
|
|
NM_002055.5(GFAP):c.704T>C (p.Leu235Pro)
|
rs60269890
|
|
NM_002055.5(GFAP):c.707A>C (p.Lys236Thr)
|
rs267607525
|
|
NM_002055.5(GFAP):c.715C>G (p.Arg239Gly)
|
rs58064122
|
|
NM_002055.5(GFAP):c.715C>T (p.Arg239Cys)
|
rs58064122
|
|
NM_002055.5(GFAP):c.716G>A (p.Arg239His)
|
rs59565950
|
|
NM_002055.5(GFAP):c.716G>C (p.Arg239Pro)
|
rs59565950
|
|
NM_002055.5(GFAP):c.716G>T (p.Arg239Leu)
|
rs59565950
|
|
NM_002055.5(GFAP):c.724T>G (p.Tyr242Asp)
|
rs60551555
|
|
NM_002055.5(GFAP):c.731C>T (p.Ala244Val)
|
rs61497286
|
|
NM_002055.5(GFAP):c.739T>C (p.Ser247Pro)
|
rs267607519
|
|
NM_002055.5(GFAP):c.758C>G (p.Ala253Gly)
|
rs61726470
|
|
NM_002055.5(GFAP):c.770A>G (p.Tyr257Cys)
|
rs267607505
|
|
NM_002055.5(GFAP):c.772C>T (p.Arg258Cys)
|
rs797044578
|
|
NM_002055.5(GFAP):c.773G>C (p.Arg258Pro)
|
rs61726468
|
|
NM_002055.5(GFAP):c.791T>C (p.Leu264Pro)
|
rs797044579
|
|
NM_002055.5(GFAP):c.791_792delinsCT (p.Leu264Pro)
|
rs797044580
|
|
NM_002055.5(GFAP):c.799G>C (p.Ala267Pro)
|
rs797044581
|
|
NM_002055.5(GFAP):c.803C>A (p.Ala268Asp)
|
rs797044582
|
|
NM_002055.5(GFAP):c.827G>T (p.Arg276Leu)
|
rs121909719
|
|
NM_002055.5(GFAP):c.835A>G (p.Lys279Glu)
|
rs58536923
|
|
NM_002055.5(GFAP):c.868C>G (p.Gln290Glu)
|
rs797044583
|
|
NM_002055.5(GFAP):c.934G>T (p.Glu312Ter)
|
rs763868966
|
|
NM_002055.5(GFAP):c.992T>C (p.Leu331Pro)
|
rs59985777
|
|
NM_002055.5(GFAP):c.994G>A (p.Glu332Lys)
|
rs267607514
|
|
NM_002074.5(GNB1):c.233A>G (p.Lys78Arg)
|
rs869312823
|
|
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)
|
rs752746786
|
|
NM_002074.5(GNB1):c.284T>C (p.Leu95Pro)
|
rs869312824
|
|
NM_002074.5(GNB1):c.287G>T (p.Arg96Leu)
|
rs1646670990
|
|
NM_002074.5(GNB1):c.301A>G (p.Met101Val)
|
rs869312825
|
|
NM_002074.5(GNB1):c.352G>T (p.Asp118Tyr)
|
rs1570640673
|
|
NM_002074.5(GNB1):c.353A>G (p.Asp118Gly)
|
rs1553194162
|
|
NM_002087.4(GRN):c.-8+5G>C
|
rs63750313
|
|
NM_002087.4(GRN):c.26C>A (p.Ala9Asp)
|
rs63751243
|
|
NM_002111.8(HTT):c.52CAG[27_35] (p.Gln18_Gln38delinsGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)
|
|
|
NM_002111.8(HTT):c.52CAG[36_39]
|
|
|
NM_002111.8(HTT):c.52CAG[?_25]
|
|
|
NM_002230.4(JUP):c.113GCA[3] (p.Ser39dup)
|
rs113994176
|
|
NM_002230.4(JUP):c.2038_2039del (p.Trp680fs)
|
rs113994177
|
|
NM_002354.2(EPCAM):c.859-1430_*2033del
|
|
|
NM_002381.5(MATN3):c.359C>T (p.Thr120Met)
|
rs397515546
|
|
NM_002381.5(MATN3):c.361C>T (p.Arg121Trp)
|
rs104893637
|
|
NM_002381.5(MATN3):c.400G>A (p.Glu134Lys)
|
rs2103484088
|
|
NM_002381.5(MATN3):c.437T>G (p.Leu146Arg)
|
rs2103484073
|
|
NM_002381.5(MATN3):c.513_530del (p.Asp171_Val176del)
|
rs2103484013
|
|
NM_002381.5(MATN3):c.518C>A (p.Ala173Asp)
|
rs779413744
|
|
NM_002381.5(MATN3):c.575T>A (p.Ile192Asn)
|
rs2103483989
|
|
NM_002381.5(MATN3):c.581T>A (p.Val194Asp)
|
rs104893645
|
|
NM_002381.5(MATN3):c.584C>A (p.Thr195Lys)
|
rs765225021
|
|
NM_002381.5(MATN3):c.626G>C (p.Arg209Pro)
|
rs749845872
|
|
NM_002381.5(MATN3):c.652T>A (p.Tyr218Asn)
|
rs2103483937
|
|
NM_002381.5(MATN3):c.910T>A (p.Cys304Ser)
|
rs104893639
|
|
NM_002430.3(MN1):c.3817C>T (p.Gln1273Ter)
|
rs1601319615
|
|
NM_002430.3(MN1):c.3883C>T (p.Arg1295Ter)
|
rs147334255
|
|
NM_002430.3(MN1):c.3903G>A (p.Trp1301Ter)
|
rs1601319501
|
|
NM_002437.5(MPV17):c.278A>C (p.Gln93Pro)
|
rs200938111
|
|
NM_002449.5(MSX2):c.443C>A (p.Pro148His)
|
rs104893895
|
|
NM_002456.6(MUC1):c.253C>T (p.Gln85Ter)
|
rs773704188
|
|
NM_002473.6(MYH9):c.2104C>T (p.Arg702Cys)
|
rs80338826
|
|
NM_002473.6(MYH9):c.2114G>A (p.Arg705His)
|
rs80338828
|
|
NM_002473.6(MYH9):c.279C>G (p.Asn93Lys)
|
rs121913655
|
|
NM_002473.6(MYH9):c.287C>T (p.Ser96Leu)
|
rs121913657
|
|
NM_002473.6(MYH9):c.3493C>T (p.Arg1165Cys)
|
rs80338829
|
|
NM_002473.6(MYH9):c.3494G>T (p.Arg1165Leu)
|
rs80338830
|
|
NM_002473.6(MYH9):c.4270G>A (p.Asp1424Asn)
|
rs80338831
|
|
NM_002473.6(MYH9):c.4270G>C (p.Asp1424His)
|
rs80338831
|
|
NM_002473.6(MYH9):c.4270G>T (p.Asp1424Tyr)
|
rs80338831
|
|
NM_002473.6(MYH9):c.4340A>T (p.Asp1447Val)
|
rs797044804
|
|
NM_002473.6(MYH9):c.5521G>A (p.Glu1841Lys)
|
rs80338834
|
|
NM_002473.6(MYH9):c.5797C>T (p.Arg1933Ter)
|
rs80338835
|
|
NM_002473.6(MYH9):c.5821del (p.Asp1941fs)
|
rs587776808
|
|
NM_002485.5(NBN):c.1089C>A (p.Tyr363Ter)
|
rs121908974
|
|
NM_002485.5(NBN):c.1125G>A (p.Trp375Ter)
|
rs1057519588
|
|
NM_002485.5(NBN):c.1142del (p.Pro381fs)
|
rs587781969
|
|
NM_002485.5(NBN):c.330T>G (p.Tyr110Ter)
|
rs1057519585
|
|
NM_002485.5(NBN):c.657_661del (p.Lys219fs)
|
rs587776650
|
|
NM_002485.5(NBN):c.681del (p.Phe227fs)
|
rs1057519586
|
|
NM_002485.5(NBN):c.698_701del (p.Lys233fs)
|
rs587780100
|
|
NM_002485.5(NBN):c.741_742dup (p.Glu248fs)
|
rs864309670
|
|
NM_002485.5(NBN):c.836_839del (p.Gln279fs)
|
rs864309668
|
|
NM_002485.5(NBN):c.842dup (p.Leu281fs)
|
rs864309669
|
|
NM_002485.5(NBN):c.900_924del (p.Gly301fs)
|
rs1057519587
|
|
NM_002485.5(NBN):c.976C>T (p.Gln326Ter)
|
rs121908973
|
|
NM_002524.5(NRAS):c.101C>T (p.Pro34Leu)
|
rs397514553
|
|
NM_002524.5(NRAS):c.149C>T (p.Thr50Ile)
|
rs267606921
|
|
NM_002524.5(NRAS):c.71T>A (p.Ile24Asn)
|
rs869025573
|
|
NM_002529.4(NTRK1):c.1354+13_1634del
|
|
|
NM_002529.4(NTRK1):c.1633-1G>T
|
rs1571699664
|
|
NM_002529.4(NTRK1):c.1660del (p.Arg554fs)
|
rs80356675
|
|
NM_002529.4(NTRK1):c.1860_1861insT (p.Pro621fs)
|
rs80356676
|
|
NM_002529.4(NTRK1):c.2020G>T (p.Asp674Tyr)
|
rs80356677
|
|
NM_002529.4(NTRK1):c.25C>T (p.Gln9Ter)
|
rs80356673
|
|
NM_002609.4(PDGFRB):c.1973T>C (p.Leu658Pro)
|
rs397509381
|
|
NM_002693.3(POLG):c.2864A>G (p.Tyr955Cys)
|
rs113994099
|
|
NM_002693.3(POLG):c.3488T>G (p.Met1163Arg)
|
rs113994100
|
|
NM_002693.3(POLG):c.3630dup (p.Gly1211fs)
|
rs113994101
|
|
NM_002734.5(PRKAR1A):c.177+3A>G
|
rs797044568
|
|
NM_002734.5(PRKAR1A):c.1A>G (p.Met1Val)
|
rs281864779
|
|
NM_002734.5(PRKAR1A):c.491_492del (p.Val164fs)
|
rs281864790
|
|
NM_002734.5(PRKAR1A):c.709-7_709-2del
|
rs281864801
|
|
NM_002734.5(PRKAR1A):c.82C>T (p.Gln28Ter)
|
rs281864780
|
|
NM_002739.5(PRKCG):c.1078G>A (p.Gly360Ser)
|
rs386134171
|
|
NM_002739.5(PRKCG):c.1081A>G (p.Ser361Gly)
|
rs121918517
|
|
NM_002739.5(PRKCG):c.122G>C (p.Arg41Pro)
|
rs386134158
|
|
NM_002739.5(PRKCG):c.188G>T (p.Gly63Val)
|
rs386134159
|
|
NM_002739.5(PRKCG):c.1927T>C (p.Phe643Leu)
|
rs121918516
|
|
NM_002739.5(PRKCG):c.197G>A (p.Cys66Tyr)
|
rs1555806333
|
|
NM_002739.5(PRKCG):c.2091_*98del (p.Met697_Ter698delinsXaa)
|
rs1555808841
|
|
NM_002739.5(PRKCG):c.226C>T (p.Arg76Ter)
|
rs2068614711
|
|
NM_002739.5(PRKCG):c.229T>A (p.Cys77Ser)
|
rs386134160
|
|
NM_002739.5(PRKCG):c.285C>G (p.Asp95Glu)
|
rs17854523
|
|
NM_002739.5(PRKCG):c.300_305del (p.His101_Lys102del)
|
rs386134161
|
|
NM_002739.5(PRKCG):c.301C>T (p.His101Tyr)
|
rs121918511
|
|
NM_002739.5(PRKCG):c.302A>G (p.His101Arg)
|
rs2068656783
|
|
NM_002739.5(PRKCG):c.303C>G (p.His101Gln)
|
rs121918518
|
|
NM_002739.5(PRKCG):c.341G>A (p.Cys114Tyr)
|
rs386134162
|
|
NM_002739.5(PRKCG):c.353G>A (p.Gly118Asp)
|
rs121918514
|
|
NM_002739.5(PRKCG):c.355T>C (p.Ser119Pro)
|
rs121918512
|
|
NM_002739.5(PRKCG):c.356C>T (p.Ser119Phe)
|
rs386134163
|
|
NM_002739.5(PRKCG):c.367G>A (p.Gly123Arg)
|
rs386134164
|
|
NM_002739.5(PRKCG):c.368G>A (p.Gly123Glu)
|
rs386134165
|
|
NM_002739.5(PRKCG):c.380A>G (p.Gln127Arg)
|
rs121918515
|
|
NM_002739.5(PRKCG):c.383G>A (p.Gly128Asp)
|
rs121918513
|
|
NM_002739.5(PRKCG):c.391T>C (p.Cys131Arg)
|
rs386134166
|
|
NM_002739.5(PRKCG):c.392G>A (p.Cys131Tyr)
|
rs386134167
|
|
NM_002739.5(PRKCG):c.413T>A (p.Val138Glu)
|
rs386134168
|
|
NM_002739.5(PRKCG):c.417C>A (p.His139Gln)
|
rs386134169
|
|
NM_002739.5(PRKCG):c.449_450delinsTT (p.Cys150Phe)
|
rs386134170
|
|
NM_002739.5(PRKCG):c.530_919del
|
|
|
NM_002739.5(PRKCG):c.767T>C (p.Met256Thr)
|
rs2068685112
|
|
NM_002739.5(PRKCG):c.76A>G (p.Arg26Gly)
|
rs386134157
|
|
NM_002755.4(MAP2K1):c.171G>T (p.Lys57Asn)
|
rs869025608
|
|
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn)
|
rs727504317
|
|
NM_002755.4(MAP2K1):c.305A>G (p.Glu102Gly)
|
rs797044593
|
|
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys)
|
rs121908595
|
|
NM_002764.4(PRPS1):c.129A>C (p.Glu43Asp)
|
rs80338731
|
|
NM_002764.4(PRPS1):c.193G>A (p.Asp65Asn)
|
rs180177151
|
|
NM_002764.4(PRPS1):c.244G>C (p.Ala82Pro)
|
|
|
NM_002764.4(PRPS1):c.259G>A (p.Ala87Thr)
|
rs180177152
|
|
NM_002764.4(PRPS1):c.344T>C (p.Met115Thr)
|
rs80338732
|
|
NM_002764.4(PRPS1):c.367C>G (p.His123Asp)
|
rs2147682403
|
|
NM_002764.4(PRPS1):c.398A>C (p.Gln133Pro)
|
rs80338675
|
|
NM_002764.4(PRPS1):c.455T>C (p.Leu152Pro)
|
rs80338676
|
|
NM_002764.4(PRPS1):c.830A>C (p.Gln277Pro)
|
rs869025593
|
|
NM_002764.4(PRPS1):c.869T>C (p.Ile290Thr)
|
rs180177153
|
|
NM_002764.4(PRPS1):c.916G>A (p.Gly306Arg)
|
rs180177154
|
|
NM_002769.5(PRSS1):c.86A>T (p.Asn29Ile)
|
rs111033566
|
|
NM_002775.4(HTRA1):c.[126delG];[961G>A]
|
|
|
NM_002775.5(HTRA1):c.108G>C (p.Gly36=)
|
rs2293870
|
|
NM_002775.5(HTRA1):c.108G>T (p.Gly36=)
|
rs2293870
|
|
NM_002775.5(HTRA1):c.1091T>C (p.Leu364Pro)
|
rs587776447
|
|
NM_002775.5(HTRA1):c.754G>A (p.Ala252Thr)
|
rs113993968
|
|
NM_002775.5(HTRA1):c.854C>T (p.Pro285Leu)
|
rs587776446
|
|
NM_002775.5(HTRA1):c.883G>A (p.Gly295Arg)
|
rs587776873
|
|
NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr)
|
rs121918468
|
|
NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala)
|
rs121918469
|
|
NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu)
|
rs397507542
|
|
NM_002834.5(PTPN11):c.1517A>C (p.Gln506Pro)
|
rs397507548
|
|
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu)
|
rs397507549
|
|
NM_002834.5(PTPN11):c.179_181del (p.Gly60del)
|
rs80338836
|
|
NM_002834.5(PTPN11):c.181_183del (p.Asp61del)
|
rs869025574
|
|
NM_002834.5(PTPN11):c.836A>C (p.Tyr279Ser)
|
rs121918456
|
|
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys)
|
rs121918456
|
|
NM_002863.3(PYGL):c.[1964_1969invAAAAAG;1969+1_+4delGTAC]
|
|
|
NM_002863.5(PYGL):c.1016A>G (p.Asn339Ser)
|
rs113993976
|
|
NM_002863.5(PYGL):c.1131C>G (p.Asn377Lys)
|
rs113993977
|
|
NM_002863.5(PYGL):c.1895A>T (p.Asn632Ile)
|
rs113993983
|
|
NM_002863.5(PYGL):c.2023T>A (p.Ser675Thr)
|
rs113993985
|
|
NM_002863.5(PYGL):c.2042A>C (p.Lys681Thr)
|
rs113993987
|
|
NM_002863.5(PYGL):c.38A>C (p.Gln13Pro)
|
rs113993972
|
|
NM_002863.5(PYGL):c.529-1G>C
|
rs113993974
|
|
NM_002875.5(RAD51):c.140A>G (p.His47Arg)
|
rs768411477
|
|
NM_002875.5(RAD51):c.406A>T (p.Ile136Phe)
|
rs797044557
|
|
NM_002875.5(RAD51):c.760C>T (p.Arg254Ter)
|
rs199925463
|
|
NM_002875.5(RAD51):c.855dup (p.Pro286fs)
|
rs34091239
|
|
NM_002880.4(RAF1):c.1456G>A (p.Asp486Asn)
|
rs80338798
|
|
NM_002880.4(RAF1):c.1472C>T (p.Thr491Ile)
|
rs80338799
|
|
NM_002880.4(RAF1):c.1837C>G (p.Leu613Val)
|
rs80338797
|
|
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu)
|
rs80338796
|
|
NM_002913.5(RFC1):c.132+2923=
|
|
|
NM_002968.3(SALL1):c.3160C>T (p.Arg1054Ter)
|
rs864321635
|
|
NM_002968.3(SALL1):c.826C>T (p.Arg276Ter)
|
rs104894537
|
|
NM_002973.4(ATXN2):c.16CAG[22_31] (p.6Gln[22_31])
|
rs1885090126
|
|
NM_002973.4(ATXN2):c.16CAG[33_?] (p.6Gln[33_?])
|
rs1885090126
|
|
NM_003002.4(SDHD):c.112C>T (p.Arg38Ter)
|
rs80338843
|
|
NM_003002.4(SDHD):c.284T>C (p.Leu95Pro)
|
rs80338846
|
|
NM_003002.4(SDHD):c.3G>C (p.Met1Ile)
|
rs80338842
|
|
NM_003002.4(SDHD):c.416T>C (p.Leu139Pro)
|
rs80338847
|
|
NM_003073.5(SMARCB1):c.*82C>T
|
rs878854600
|
|
NM_003073.5(SMARCB1):c.1085AGA[2] (p.Lys364del)
|
rs875989800
|
|
NM_003114.5(SPAG1):c.902_906del (p.Lys301fs)
|
rs797045149
|
|
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del)
|
rs768823392
|
|
NM_003119.4(SPG7):c.1053dup (p.Gly352fs)
|
rs760818649
|
|
NM_003119.4(SPG7):c.2102A>C (p.His701Pro)
|
|
|
NM_003136.4(SRP54):c.343A>G (p.Thr115Ala)
|
rs1555354200
|
|
NM_003136.4(SRP54):c.343ACA[2] (p.Thr117del)
|
rs1555354198
|
|
NM_003136.4(SRP54):c.677G>A (p.Gly226Glu)
|
rs1555354750
|
|
NM_003221.4(TFAP2B):c.218C>G (p.Pro73Arg)
|
rs80338910
|
|
NM_003221.4(TFAP2B):c.601+5G>A
|
rs80338911
|
|
NM_003221.4(TFAP2B):c.706C>A (p.Arg236Ser)
|
rs80338912
|
|
NM_003221.4(TFAP2B):c.706C>T (p.Arg236Cys)
|
rs80338912
|
|
NM_003221.4(TFAP2B):c.772T>G (p.Ser258Ala)
|
rs2817394
|
|
NM_003221.4(TFAP2B):c.822-1G>C
|
rs80338916
|
|
NM_003221.4(TFAP2B):c.824C>A (p.Ala275Asp)
|
rs80338914
|
|
NM_003221.4(TFAP2B):c.854G>A (p.Arg285Gln)
|
rs80338915
|
|
NM_003221.4(TFAP2B):c.898C>T (p.Arg300Cys)
|
rs80338917
|
|
NM_003227.4(TFR2):c.1232ACA[1] (p.Asn412del)
|
rs80338883
|
|
NM_003227.4(TFR2):c.1469T>G (p.Leu490Arg)
|
rs80338886
|
|
NM_003227.4(TFR2):c.1665del (p.Ser556fs)
|
rs80338887
|
|
NM_003227.4(TFR2):c.1849GCCGTGGCCCAG[1] (p.617AVAQ[1])
|
rs80338888
|
|
NM_003227.4(TFR2):c.2069A>C (p.Gln690Pro)
|
rs80338889
|
|
NM_003227.4(TFR2):c.2228C>T (p.Ala743Val)
|
rs80338875
|
|
NM_003227.4(TFR2):c.313C>T (p.Arg105Ter)
|
rs80338878
|
|
NM_003227.4(TFR2):c.473+49C>A
|
rs80338874
|
|
NM_003227.4(TFR2):c.88dup (p.Arg30fs)
|
rs80338877
|
|
NM_003227.4(TFR2):c.949C>T (p.Gln317Ter)
|
rs80338881
|
|
NM_003227.4(TFR2):c.97C>A (p.His33Asn)
|
rs80338873
|
|
NM_003244.4(TGIF1):c.16+1845C>T
|
rs397515501
|
|
NM_003244.4(TGIF1):c.581T>G (p.Val194Gly)
|
rs397515503
|
|
NM_003289.4(TPM2):c.349G>A (p.Glu117Lys)
|
rs104894129
|
|
NM_003332.4(TYROBP):c.2T>C (p.Met1Thr)
|
rs104894732
|
|
NM_003334.4(UBA1):c.1617G>T (p.Met539Ile)
|
rs80356545
|
|
NM_003334.4(UBA1):c.1639A>G (p.Ser547Gly)
|
rs80356546
|
|
NM_003334.4(UBA1):c.1731C>T (p.Asn577=)
|
rs80356547
|
|
NM_003361.4(UMOD):c.148T>A (p.Cys50Ser)
|
rs2141677149
|
|
NM_003361.4(UMOD):c.278_289delinsCCGCCTCCT (p.Val93_Gly97delinsAlaAlaSerCys)
|
rs878855325
|
|
NM_003361.4(UMOD):c.335G>A (p.Cys112Tyr)
|
rs2141676232
|
|
NM_003361.4(UMOD):c.503T>C (p.Leu168Pro)
|
rs2141675428
|
|
NM_003361.4(UMOD):c.529_555del (p.His177_Arg185del)
|
rs1555487528
|
|
NM_003361.4(UMOD):c.744C>G (p.Cys248Trp)
|
rs886043751
|
|
NM_003361.4(UMOD):c.800G>T (p.Cys267Phe)
|
rs2141674031
|
|
NM_003361.4(UMOD):c.808G>T (p.Gly270Cys)
|
rs781101544
|
|
NM_003383.5(VLDLR):c.1342C>T (p.Arg448Ter)
|
rs80338905
|
|
NM_003383.5(VLDLR):c.2339del (p.Ile780fs)
|
rs80338906
|
|
NM_003383.5(VLDLR):c.769C>T (p.Arg257Ter)
|
rs80338907
|
|
NM_003392.7(WNT5A):c.206G>A (p.Cys69Tyr)
|
rs786204837
|
|
NM_003392.7(WNT5A):c.248G>C (p.Cys83Ser)
|
rs786200925
|
|
NM_003392.7(WNT5A):c.257A>G (p.Tyr86Cys)
|
rs786204836
|
|
NM_003392.7(WNT5A):c.545G>C (p.Cys182Ser)
|
rs869312850
|
|
NM_003442.6(ZNF143):c.1019C>T (p.Thr340Ile)
|
|
|
NM_003442.6(ZNF143):c.851T>G (p.Leu284Ter)
|
|
|
NM_003491.4(NAA10):c.471+2T>A
|
rs587776457
|
|
NM_003494.3(DYSF):c.2779del (p.Ala927Leufs)
|
rs727503909
|
|
NM_003560.4(PLA2G6):c.2070_2072del (p.Val691del)
|
rs587784343
|
|
NM_003611.2:c.2388+1G>C
|
|
|
NM_003611.3(OFD1):c.2126_2129dup (p.Asn711fs)
|
rs312262890
|
|
NM_003640.5(ELP1):c.2087G>C (p.Arg696Pro)
|
rs137853022
|
|
NM_003718.5(CDK13):c.2200A>G (p.Lys734Glu)
|
rs1064795731
|
|
NM_003718.5(CDK13):c.2201A>G (p.Lys734Arg)
|
rs1784692399
|
|
NM_003718.5(CDK13):c.2524A>G (p.Asn842Asp)
|
rs1554333853
|
|
NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser)
|
rs878853160
|
|
NM_003718.5(CDK13):c.2898-1G>A
|
rs1786599399
|
|
NM_003901.4(SGPL1):c.665G>A (p.Arg222Gln)
|
rs769259446
|
|
NM_003907.3(EIF2B5):c.1016G>C (p.Arg339Pro)
|
rs113994069
|
|
NM_003977.2(AIP):c.(?_1)_(*_?)del
|
|
|
NM_003977.2(AIP):c.-1212_279+578del
|
|
|
NM_003977.3(AIP):c.74_81delTCCCGGACins7
|
|
|
NM_003977.3(AIP):c.[-125-145_-125-144delCGinsAA];[-125-95G>A]
|
|
|
NM_003977.3(AIP):c.[878_879delAGinsGT];[880_891delCTGGACCCAGCC]
|
|
|
NM_003977.4(AIP):c.100-1025_279+357del
|
|
|
NM_003977.4(AIP):c.140_163del (p.Gly47_Arg54del)
|
rs267606537
|
|
NM_003977.4(AIP):c.166C>A (p.Arg56Ser)
|
rs267606538
|
|
NM_003977.4(AIP):c.241C>T (p.Arg81Ter)
|
rs267606541
|
|
NM_003977.4(AIP):c.245_249del (p.Glu82fs)
|
rs267606542
|
|
NM_003977.4(AIP):c.249G>T (p.Gly83=)
|
rs104895072
|
|
NM_003977.4(AIP):c.250G>A (p.Glu84Lys)
|
rs267606543
|
|
NM_003977.4(AIP):c.280-1G>A
|
rs267606544
|
|
NM_003977.4(AIP):c.286_287del (p.Val96fs)
|
rs267606545
|
|
NM_003977.4(AIP):c.2T>C (p.Met1Thr)
|
rs267606546
|
|
NM_003977.4(AIP):c.308A>G (p.Lys103Arg)
|
rs267606548
|
|
NM_003977.4(AIP):c.350del (p.Gly117fs)
|
rs267606549
|
|
NM_003977.4(AIP):c.3_4insC (p.Ala2fs)
|
rs267606547
|
|
NM_003977.4(AIP):c.404del (p.His135fs)
|
rs267606551
|
|
NM_003977.4(AIP):c.424C>T (p.Gln142Ter)
|
rs267606552
|
|
NM_003977.4(AIP):c.429G>A (p.Gln143=)
|
rs267606553
|
|
NM_003977.4(AIP):c.468+16G>T
|
rs267607273
|
|
NM_003977.4(AIP):c.468+1G>A
|
rs267606554
|
|
NM_003977.4(AIP):c.469-1G>A
|
rs267606555
|
|
NM_003977.4(AIP):c.469-2A>G
|
rs267606556
|
|
NM_003977.4(AIP):c.490C>T (p.Gln164Ter)
|
rs104895073
|
|
NM_003977.4(AIP):c.500del (p.Pro167fs)
|
rs267606557
|
|
NM_003977.4(AIP):c.521_525del (p.Glu174fs)
|
rs267606558
|
|
NM_003977.4(AIP):c.543del (p.Ile182fs)
|
rs267606559
|
|
NM_003977.4(AIP):c.550C>T (p.Gln184Ter)
|
rs267606560
|
|
NM_003977.4(AIP):c.601A>T (p.Lys201Ter)
|
rs267606563
|
|
NM_003977.4(AIP):c.646G>T (p.Glu216Ter)
|
rs267606565
|
|
NM_003977.4(AIP):c.649C>T (p.Gln217Ter)
|
rs267606566
|
|
NM_003977.4(AIP):c.64C>T (p.Arg22Ter)
|
rs121908357
|
|
NM_003977.4(AIP):c.662dup (p.Pro221_Glu222insTer)
|
rs104895075
|
|
NM_003977.4(AIP):c.66_71del (p.Gly23_Glu24del)
|
rs267606567
|
|
NM_003977.4(AIP):c.70G>T (p.Glu24Ter)
|
rs267606568
|
|
NM_003977.4(AIP):c.713G>A (p.Cys238Tyr)
|
rs267606569
|
|
NM_003977.4(AIP):c.714C>T (p.Cys238=)
|
rs267606570
|
|
NM_003977.4(AIP):c.715C>T (p.Gln239Ter)
|
rs267606571
|
|
NM_003977.4(AIP):c.721A>T (p.Lys241Ter)
|
rs267606573
|
|
NM_003977.4(AIP):c.739TAC[1] (p.Tyr248del)
|
rs267606574
|
|
NM_003977.4(AIP):c.769A>G (p.Ile257Val)
|
rs267606575
|
|
NM_003977.4(AIP):c.803A>G (p.Tyr268Cys)
|
rs267606577
|
|
NM_003977.4(AIP):c.804C>A (p.Tyr268Ter)
|
rs121908356
|
|
NM_003977.4(AIP):c.805_825dup (p.Phe269_His275dup)
|
rs267606578
|
|
NM_003977.4(AIP):c.811C>T (p.Arg271Trp)
|
rs267606579
|
|
NM_003977.4(AIP):c.824dup (p.His275fs)
|
rs267606580
|
|
NM_003977.4(AIP):c.829G>C (p.Ala277Pro)
|
rs267606581
|
|
NM_003977.4(AIP):c.854_857del (p.Gln285fs)
|
rs267606582
|
|
NM_003977.4(AIP):c.919dup (p.Arg307fs)
|
rs267606589
|
|
NM_003977.4(AIP):c.987C>T (p.Ser329=)
|
rs267606587
|
|
NM_003982.4(SLC7A7):c.1228C>T (p.Arg410Ter)
|
rs121908678
|
|
NM_003982.4(SLC7A7):c.1381_1384dup (p.Arg462fs)
|
rs386833805
|
|
NM_004004.6(GJB2):c.131G>C (p.Trp44Ser)
|
rs104894413
|
|
NM_004004.6(GJB2):c.132G>C (p.Trp44Cys)
|
rs104894407
|
|
NM_004004.6(GJB2):c.136G>A (p.Asp46Asn)
|
rs1064797088
|
|
NM_004004.6(GJB2):c.164C>A (p.Thr55Asn)
|
rs1064797089
|
|
NM_004004.6(GJB2):c.172C>G (p.Pro58Ala)
|
rs1064797090
|
|
NM_004004.6(GJB2):c.223C>T (p.Arg75Trp)
|
rs104894402
|
|
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter)
|
rs80338944
|
|
NM_004004.6(GJB2):c.235del (p.Leu79fs)
|
rs80338943
|
|
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del)
|
rs80338947
|
|
NM_004004.6(GJB2):c.35G>T (p.Gly12Val)
|
rs1801002
|
|
NM_004004.6(GJB2):c.35del (p.Gly12fs)
|
rs80338939
|
|
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln)
|
rs104894401
|
|
NM_004004.6(GJB2):c.487A>C (p.Met163Leu)
|
rs80338949
|
|
NM_004004.6(GJB2):c.535G>A (p.Asp179Asn)
|
rs28931595
|
|
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln)
|
rs80338950
|
|
NM_004004.6(GJB2):c.56G>C (p.Ser19Thr)
|
rs80338941
|
|
NM_004004.6(GJB2):c.605G>T (p.Cys202Phe)
|
rs104894406
|
|
NM_004082.5(DCTN1):c.211G>A (p.Gly71Arg)
|
rs72466485
|
|
NM_004085.4(TIMM8A):c.*503_*505dup
|
rs4024308
|
|
NM_004085.4(TIMM8A):c.112C>T (p.Gln38Ter)
|
rs80356559
|
|
NM_004085.4(TIMM8A):c.198C>G (p.Cys66Trp)
|
rs80356560
|
|
NM_004211.5(SLC6A5):c.1294delinsTT (p.Val432fs)
|
rs281864924
|
|
NM_004211.5(SLC6A5):c.1444T>C (p.Trp482Arg)
|
rs281864925
|
|
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_004260.4(RECQL4):c.2059-1G>C
|
rs386833849
|
|
NM_004260.4(RECQL4):c.2059-1G>T
|
rs386833849
|
|
NM_004260.4(RECQL4):c.2059-78_3201del
|
|
|
NM_004260.4(RECQL4):c.2141_2142del (p.Glu714fs)
|
rs746222099
|
|
NM_004260.4(RECQL4):c.2335_2356del (p.Asp779fs)
|
rs2130678086
|
|
NM_004260.4(RECQL4):c.2506_2518del (p.Ser836fs)
|
rs2130673134
|
|
NM_004260.4(RECQL4):c.3151A>G (p.Ile1051Val)
|
rs1380694111
|
|
NM_004260.4(RECQL4):c.496C>T (p.Gln166Ter)
|
rs2130727746
|
|
NM_004281.4(BAG3):c.626C>T (p.Pro209Leu)
|
rs121918312
|
|
NM_004304.5(ALK):c.3383G>C (p.Gly1128Ala)
|
rs113994088
|
|
NM_004304.5(ALK):c.3520T>G (p.Phe1174Val)
|
rs281864719
|
|
NM_004304.5(ALK):c.3733T>G (p.Phe1245Val)
|
rs281864720
|
|
NM_004304.5(ALK):c.3824G>A (p.Arg1275Gln)
|
rs113994087
|
|
NM_004333.6(BRAF):c.1399T>G (p.Ser467Ala)
|
rs869025606
|
|
NM_004333.6(BRAF):c.1408_1410del (p.Thr470del)
|
rs869025607
|
|
NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe)
|
rs180177036
|
|
NM_004333.6(BRAF):c.1593G>C (p.Trp531Cys)
|
rs606231228
|
|
NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg)
|
rs180177041
|
|
NM_004333.6(BRAF):c.1787G>T (p.Gly596Val)
|
rs397507483
|
|
NM_004333.6(BRAF):c.1789C>G (p.Leu597Val)
|
rs121913369
|
|
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)
|
rs113488022
|
|
NM_004333.6(BRAF):c.1799T>G (p.Val600Gly)
|
rs113488022
|
|
NM_004333.6(BRAF):c.721A>C (p.Thr241Pro)
|
rs387906661
|
|
NM_004333.6(BRAF):c.722C>G (p.Thr241Arg)
|
rs387906660
|
|
NM_004333.6(BRAF):c.722C>T (p.Thr241Met)
|
rs387906660
|
|
NM_004333.6(BRAF):c.735A>T (p.Leu245Phe)
|
rs397507466
|
|
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg)
|
rs180177035
|
|
NM_004364.5(CEBPA):c.141del (p.Ala48fs)
|
rs137852730
|
|
NM_004364.5(CEBPA):c.147_165del (p.Glu50fs)
|
rs2145264004
|
|
NM_004364.5(CEBPA):c.158del (p.Gly53fs)
|
rs2145264074
|
|
NM_004364.5(CEBPA):c.189del (p.Asp63fs)
|
rs2145263853
|
|
NM_004364.5(CEBPA):c.314_315insT (p.Phe106fs)
|
rs2145263088
|
|
NM_004364.5(CEBPA):c.442G>T (p.Glu148Ter)
|
rs1388478228
|
|
NM_004364.5(CEBPA):c.68del (p.Pro23fs)
|
rs137852728
|
|
NM_004364.5(CEBPA):c.68dup (p.His24fs)
|
rs137852728
|
|
NM_004364.5(CEBPA):c.932A>C (p.Gln311Pro)
|
rs2145258913
|
|
NM_004366.6(CLCN2):c.1113delinsACTGCTCAT (p.Ser375fs)
|
rs863225251
|
|
NM_004366.6(CLCN2):c.1304del (p.Leu435fs)
|
rs863225253
|
|
NM_004366.6(CLCN2):c.130G>A (p.Gly44Arg)
|
rs863225247
|
|
NM_004366.6(CLCN2):c.1397G>A (p.Gly466Glu)
|
rs863225254
|
|
NM_004366.6(CLCN2):c.1422_1423del (p.Glu475fs)
|
rs863225255
|
|
NM_004366.6(CLCN2):c.1499C>T (p.Ala500Val)
|
rs587777111
|
|
NM_004366.6(CLCN2):c.1507G>A (p.Gly503Arg)
|
rs777105668
|
|
NM_004366.6(CLCN2):c.221-14_221-4del
|
rs515726132
|
|
NM_004366.6(CLCN2):c.2273G>A (p.Ser758Asn)
|
rs753380048
|
|
NM_004366.6(CLCN2):c.2386C>T (p.Gln796Ter)
|
rs376823689
|
|
NM_004366.6(CLCN2):c.430_435del (p.Leu144_Ile145del)
|
rs587777110
|
|
NM_004366.6(CLCN2):c.596G>C (p.Gly199Ala)
|
rs863225248
|
|
NM_004366.6(CLCN2):c.597dup (p.Met200fs)
|
rs515726131
|
|
NM_004366.6(CLCN2):c.64-1107_639del
|
|
|
NM_004366.6(CLCN2):c.828dup (p.Arg277fs)
|
rs587777112
|
|
NM_004369.4(COL6A3):c.6210+1G>A
|
rs398124126
|
|
NM_004369.4(COL6A3):c.6210+5G>A
|
rs886044593
|
|
NM_004385.5(VCAN):c.4004-1G>A
|
rs80356554
|
|
NM_004385.5(VCAN):c.4004-1G>C
|
rs80356554
|
|
NM_004385.5(VCAN):c.4004-1G>T
|
rs80356554
|
|
NM_004385.5(VCAN):c.4004-2A>G
|
rs80356555
|
|
NM_004385.5(VCAN):c.4004-2A>T
|
rs80356555
|
|
NM_004385.5(VCAN):c.4004-5T>A
|
rs80356556
|
|
NM_004385.5(VCAN):c.4004-5T>C
|
rs80356556
|
|
NM_004385.5(VCAN):c.4004-6T>A
|
rs864309744
|
|
NM_004385.5(VCAN):c.9265+1G>A
|
rs80356553
|
|
NM_004385.5(VCAN):c.9265+1G>T
|
rs80356553
|
|
NM_004385.5(VCAN):c.9265+2T>A
|
rs397515437
|
|
NM_004409.4(DMPK):c.*224CTG[(35_49)]
|
|
|
NM_004423.4(DVL3):c.1585del (p.Ala529fs)
|
rs869025215
|
|
NM_004423.4(DVL3):c.1617del (p.Gln539fs)
|
rs1553811652
|
|
NM_004423.4(DVL3):c.1715-1G>A
|
rs869025217
|
|
NM_004423.4(DVL3):c.1715-2A>G
|
rs869025216
|
|
NM_004423.4(DVL3):c.1716del (p.Ser573fs)
|
rs869025218
|
|
NM_004423.4(DVL3):c.1749del (p.Ser583fs)
|
rs869025219
|
|
NM_004425.4(ECM1):c.506dup (p.Gly170fs)
|
rs869025564
|
|
NM_004425.4(ECM1):c.658T>G (p.Cys220Gly)
|
rs869025566
|
|
NM_004425.4(ECM1):c.727C>T (p.Arg243Ter)
|
rs746217361
|
|
NM_004425.4(ECM1):c.742G>T (p.Glu248Ter)
|
rs369508778
|
|
NM_004425.4(ECM1):c.826C>T (p.Gln276Ter)
|
rs869025563
|
|
NM_004425.4(ECM1):c.93_94delinsTT (p.Arg31_Gln32delinsSerTer)
|
rs869025567
|
|
NM_004456.5(EZH2):c.2044G>A (p.Ala682Thr)
|
rs397515547
|
|
NM_004456.5(EZH2):c.2233G>A (p.Glu745Lys)
|
rs397515548
|
|
NM_004456.5(EZH2):c.395C>T (p.Pro132Leu)
|
|
|
NM_004456.5(EZH2):c.458A>G (p.Tyr153Cys)
|
rs797044844
|
|
NM_004519.4(KCNQ3):c.1019G>T (p.Gly340Val)
|
rs2130128165
|
|
NM_004519.4(KCNQ3):c.1066G>A (p.Ala356Thr)
|
rs2130121430
|
|
NM_004519.4(KCNQ3):c.1142C>T (p.Ala381Val)
|
rs1554626549
|
|
NM_004519.4(KCNQ3):c.1657G>A (p.Gly553Arg)
|
rs1825159081
|
|
NM_004519.4(KCNQ3):c.1720C>T (p.Pro574Ser)
|
rs74582884
|
|
NM_004519.4(KCNQ3):c.680G>A (p.Arg227Gln)
|
rs1826712021
|
|
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys)
|
rs796052676
|
|
NM_004519.4(KCNQ3):c.835G>T (p.Val279Phe)
|
rs2130134022
|
|
NM_004519.4(KCNQ3):c.895G>A (p.Glu299Lys)
|
rs118192247
|
|
NM_004519.4(KCNQ3):c.923G>C (p.Trp308Ser)
|
rs1064794632
|
|
NM_004519.4(KCNQ3):c.925T>C (p.Trp309Arg)
|
rs118192249
|
|
NM_004519.4(KCNQ3):c.929G>T (p.Gly310Val)
|
rs118192250
|
|
NM_004519.4(KCNQ3):c.950T>C (p.Ile317Thr)
|
rs1586800133
|
|
NM_004519.4(KCNQ3):c.988C>T (p.Arg330Cys)
|
rs118192251
|
|
NM_004519.4(KCNQ3):c.989G>A (p.Arg330His)
|
rs1162306056
|
|
NM_004519.4(KCNQ3):c.989G>T (p.Arg330Leu)
|
rs1162306056
|
|
NM_004525.3(LRP2):c.10195C>T (p.Arg3399Ter)
|
rs80338752
|
|
NM_004525.3(LRP2):c.1093C>T (p.Arg365Ter)
|
rs80338744
|
|
NM_004525.3(LRP2):c.11469_11472del (p.Cys3823fs)
|
rs80338753
|
|
NM_004525.3(LRP2):c.13139dup (p.Cys4381fs)
|
rs80338754
|
|
NM_004525.3(LRP2):c.1341+2T>G
|
rs80338745
|
|
NM_004525.3(LRP2):c.2640-1G>A
|
rs587776717
|
|
NM_004525.3(LRP2):c.7564T>C (p.Tyr2522His)
|
rs80338747
|
|
NM_004525.3(LRP2):c.770-2A>G
|
rs80338743
|
|
NM_004525.3(LRP2):c.8452+1G>A
|
rs80338748
|
|
NM_004525.3(LRP2):c.8519_8522del (p.Tyr2840fs)
|
rs80338749
|
|
NM_004525.3(LRP2):c.9358_9359del (p.Ser3120fs)
|
rs80338750
|
|
NM_004525.3(LRP2):c.9484_9485del (p.Val3162fs)
|
rs80338751
|
|
NM_004562.3(PRKN):c.1138G>C (p.Val380Leu)
|
rs1801582
|
|
NM_004595.5(SMS):c.166G>A (p.Gly56Ser)
|
rs121434610
|
|
NM_004595.5(SMS):c.174T>A (p.Phe58Leu)
|
rs397515549
|
|
NM_004595.5(SMS):c.329+5G>A
|
rs397515381
|
|
NM_004595.5(SMS):c.388C>T (p.Arg130Cys)
|
rs1602210346
|
|
NM_004595.5(SMS):c.443A>G (p.Gln148Arg)
|
rs397515551
|
|
NM_004595.5(SMS):c.908_911del (p.Met303fs)
|
rs1602220706
|
|
NM_004608.4(TBX6):c.1311A>T (p.Ter437Cys)
|
rs587777113
|
|
NM_004614.4:c.-270+2561delins;7287-7335inv
|
|
|
NM_004614.5(TK2):c.547C>T (p.Arg183Trp)
|
rs137886900
|
|
NM_004614.5(TK2):c.575G>A (p.Arg192Lys)
|
rs281865496
|
|
NM_004614.5(TK2):c.604_606del (p.Lys202del)
|
rs281865501
|
|
NM_004628.5(XPC):c.1643_1644del (p.Val548fs)
|
rs754532049
|
|
NM_004629.2(FANCG):c.1183_1192del (p.Glu395fs)
|
rs397507559
|
|
NM_004629.2(FANCG):c.307+1G>C
|
rs200479612
|
|
NM_004629.2(FANCG):c.925-2A>G
|
rs397507561
|
|
NM_004700.4(KCNQ4):c.1503C>T (p.Thr501=)
|
rs80358270
|
|
NM_004700.4(KCNQ4):c.211del (p.Gln71fs)
|
rs80358272
|
|
NM_004700.4(KCNQ4):c.212_224del (p.Gln71fs)
|
rs80358271
|
|
NM_004700.4(KCNQ4):c.853G>A (p.Gly285Ser)
|
rs28937588
|
|
NM_004700.4(KCNQ4):c.853G>T (p.Gly285Cys)
|
rs28937588
|
|
NM_004700.4(KCNQ4):c.859G>C (p.Gly287Arg)
|
rs137853969
|
|
NM_004715.5(CTDP1):c.863+389C>T
|
rs113994102
|
|
NM_004733.4(SLC33A1):c.1098C>G (p.Tyr366Ter)
|
rs1308995894
|
|
NM_004733.4(SLC33A1):c.1267-1G>A
|
rs1577455897
|
|
NM_004733.4(SLC33A1):c.1474_1482+9del
|
rs1577455542
|
|
NM_004733.4(SLC33A1):c.328G>C (p.Ala110Pro)
|
rs281875283
|
|
NM_004733.4(SLC33A1):c.542_543del (p.Val181fs)
|
rs1577482029
|
|
NM_004733.4(SLC33A1):c.614dup (p.Leu205fs)
|
rs863223316
|
|
NM_004750.5(CRLF1):c.1121T>G (p.Leu374Arg)
|
rs104894668
|
|
NM_004750.5(CRLF1):c.226T>G (p.Trp76Gly)
|
rs137853143
|
|
NM_004750.5(CRLF1):c.713dup (p.Pro239fs)
|
rs768727082
|
|
NM_004750.5(CRLF1):c.857_864del (p.Val286fs)
|
rs367543004
|
|
NM_004937.3(CTNS):c.18_21del (p.Thr7fs)
|
rs786204501
|
|
NM_004937.3(CTNS):c.382C>T (p.Gln128Ter)
|
rs550254092
|
|
NM_004937.3(CTNS):c.397A>T (p.Ile133Phe)
|
rs886040970
|
|
NM_004937.3(CTNS):c.544T>C (p.Trp182Arg)
|
rs764168489
|
|
NM_004937.3(CTNS):c.559_561+24del
|
rs113994211
|
|
NM_004937.3(CTNS):c.611ACG[1] (p.Asp205del)
|
rs760256854
|
|
NM_004937.3(CTNS):c.696dup (p.Val233fs)
|
rs113994209
|
|
NM_004937.3(CTNS):c.853-3C>G
|
rs113994210
|
|
NM_004985.5(KRAS):c.436G>A (p.Ala146Thr)
|
rs121913527
|
|
NM_004993.5(ATXN3):c.886_888CAG(12_44) (p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)
|
|
|
NM_004993.5(ATXN3):c.886_888CAG(60_86) (p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)
|
|
|
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg)
|
rs587776934
|
|
NM_005045.4(RELN):c.2288A>G (p.Asp763Gly)
|
rs794727998
|
|
NM_005045.4(RELN):c.2392C>A (p.His798Asn)
|
rs794727996
|
|
NM_005045.4(RELN):c.2531C>T (p.Pro844Leu)
|
rs797045000
|
|
NM_005045.4(RELN):c.8347G>T (p.Gly2783Cys)
|
rs794727997
|
|
NM_005045.4(RELN):c.9526G>A (p.Glu3176Lys)
|
rs794727999
|
|
NM_005055.4(RAPSN):c.-199C>G
|
rs886037842
|
|
NM_005097.4(LGI1):c.124T>C (p.Cys42Arg)
|
rs797044996
|
|
NM_005097.4(LGI1):c.124T>G (p.Cys42Gly)
|
rs797044996
|
|
NM_005097.4(LGI1):c.136T>C (p.Cys46Arg)
|
rs104894166
|
|
NM_005097.4(LGI1):c.1418C>T (p.Ser473Leu)
|
rs797044999
|
|
NM_005097.4(LGI1):c.1420C>T (p.Arg474Ter)
|
rs797044998
|
|
NM_005097.4(LGI1):c.758del (p.Ala253fs)
|
rs797044997
|
|
NM_005105.5(RBM8A):c.207_208insAGCG (p.Val70fs)
|
rs397515388
|
|
NM_005105.5(RBM8A):c.487C>T (p.Arg163Ter)
|
rs397515389
|
|
NM_005120.3(MED12):c.1249-1G>C
|
rs2147783158
|
|
NM_005120.3(MED12):c.1547G>A (p.Arg516His)
|
rs1556334969
|
|
NM_005120.3(MED12):c.1862G>A (p.Arg621Gln)
|
rs1057519381
|
|
NM_005120.3(MED12):c.2207_2210del (p.Thr736fs)
|
rs2147791922
|
|
NM_005120.3(MED12):c.2663dup (p.Leu889fs)
|
rs2147796613
|
|
NM_005120.3(MED12):c.2669T>A (p.Ile890Asn)
|
rs2147796647
|
|
NM_005120.3(MED12):c.2692A>G (p.Asn898Asp)
|
rs2147797665
|
|
NM_005120.3(MED12):c.2735C>T (p.Ser912Leu)
|
rs2147797835
|
|
NM_005120.3(MED12):c.2786T>A (p.Val929Asp)
|
rs2147798220
|
|
NM_005120.3(MED12):c.2861T>G (p.Val954Gly)
|
rs2147799283
|
|
NM_005120.3(MED12):c.2873G>A (p.Gly958Glu)
|
rs397515554
|
|
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp)
|
rs80338758
|
|
NM_005120.3(MED12):c.3020A>G (p.Asn1007Ser)
|
rs80338759
|
|
NM_005120.3(MED12):c.3067A>G (p.Ile1023Val)
|
rs879255526
|
|
NM_005120.3(MED12):c.322C>T (p.Arg108Ter)
|
rs2147773440
|
|
NM_005120.3(MED12):c.3271G>A (p.Glu1091Lys)
|
rs2147802318
|
|
NM_005120.3(MED12):c.3412C>T (p.Arg1138Trp)
|
rs1057523906
|
|
NM_005120.3(MED12):c.3443G>A (p.Arg1148His)
|
rs387907360
|
|
NM_005120.3(MED12):c.3493T>C (p.Ser1165Pro)
|
rs387907361
|
|
NM_005120.3(MED12):c.3640C>T (p.Arg1214Cys)
|
rs2092311077
|
|
NM_005120.3(MED12):c.3646G>A (p.Val1216Met)
|
rs2147805923
|
|
NM_005120.3(MED12):c.3653G>A (p.Gly1218Glu)
|
rs2147805960
|
|
NM_005120.3(MED12):c.3883C>T (p.Arg1295Cys)
|
rs863223706
|
|
NM_005120.3(MED12):c.3884G>A (p.Arg1295His)
|
rs1556337063
|
|
NM_005120.3(MED12):c.3932T>A (p.Val1311Glu)
|
rs2147808490
|
|
NM_005120.3(MED12):c.3935T>C (p.Leu1312Ser)
|
rs2147808505
|
|
NM_005120.3(MED12):c.4070G>A (p.Arg1357His)
|
rs2147811858
|
|
NM_005120.3(MED12):c.4147G>A (p.Ala1383Thr)
|
rs863223696
|
|
NM_005120.3(MED12):c.4400G>A (p.Arg1467Gln)
|
rs1488533087
|
|
NM_005120.3(MED12):c.4669T>C (p.Trp1557Arg)
|
rs794727576
|
|
NM_005120.3(MED12):c.4832G>A (p.Arg1611His)
|
rs1569482153
|
|
NM_005120.3(MED12):c.4903_4906delinsCCAGCA (p.Val1635fs)
|
rs2147823333
|
|
NM_005120.3(MED12):c.5111G>A (p.Trp1704Ter)
|
rs2147826070
|
|
NM_005120.3(MED12):c.514G>C (p.Glu172Gln)
|
rs2147774632
|
|
NM_005120.3(MED12):c.5185C>A (p.His1729Asn)
|
rs387907362
|
|
NM_005120.3(MED12):c.5622C>A (p.Tyr1874Ter)
|
rs2147829167
|
|
NM_005120.3(MED12):c.5898dup (p.Ser1967fs)
|
rs879255527
|
|
NM_005120.3(MED12):c.5919C>A (p.Tyr1973Ter)
|
rs2147830849
|
|
NM_005120.3(MED12):c.5922G>T (p.Gln1974His)
|
rs879255528
|
|
NM_005120.3(MED12):c.6169C>T (p.Gln2057Ter)
|
rs2147839335
|
|
NM_005120.3(MED12):c.6231C>A (p.Tyr2077Ter)
|
rs2147839986
|
|
NM_005120.3(MED12):c.6241CAG[3] (p.Gln2084_Gln2086del)
|
rs786200971
|
|
NM_005120.3(MED12):c.6268C>T (p.Gln2090Ter)
|
rs2147841562
|
|
NM_005120.3(MED12):c.6280C>T (p.Gln2094Ter)
|
rs2147841653
|
|
NM_005120.3(MED12):c.6448C>T (p.Gln2150Ter)
|
rs2147844887
|
|
NM_005120.3(MED12):c.6476A>C (p.Gln2159Pro)
|
rs1085307941
|
|
NM_005120.3(MED12):c.887G>A (p.Arg296Gln)
|
rs1556334519
|
|
NM_005211.3(CSF1R):c.2467C>T
|
rs690016562
|
|
NM_005215.3(DCC):c.698-?_985+?del (p.Asp233_Leu328del)
|
|
|
NM_005215.4(DCC):c.1140+1G>A
|
rs797044553
|
|
NM_005215.4(DCC):c.1336_1337insAGCC (p.Arg446fs)
|
rs797044554
|
|
NM_005215.4(DCC):c.2407G>A (p.Gly803Arg)
|
rs797044550
|
|
NM_005215.4(DCC):c.2873_2877dup (p.Pro960fs)
|
rs797044555
|
|
NM_005215.4(DCC):c.377C>A (p.Ser126Ter)
|
rs797044551
|
|
NM_005215.4(DCC):c.3836_3837del (p.Leu1279fs)
|
rs797044556
|
|
NM_005215.4(DCC):c.571dup (p.Val191fs)
|
rs797044552
|
|
NM_005215.4(DCC):c.823C>T (p.Arg275Ter)
|
rs754914260
|
|
NM_005247.4(FGF3):c.150C>A (p.Cys50Ter)
|
rs281860301
|
|
NM_005247.4(FGF3):c.17T>C (p.Leu6Pro)
|
rs121917706
|
|
NM_005247.4(FGF3):c.196G>T (p.Gly66Cys)
|
rs121917705
|
|
NM_005247.4(FGF3):c.255del (p.Ile85fs)
|
rs281860302
|
|
NM_005247.4(FGF3):c.317A>G (p.Tyr106Cys)
|
rs281860306
|
|
NM_005247.4(FGF3):c.394del (p.Arg132fs)
|
rs281860304
|
|
NM_005247.4(FGF3):c.457_458del (p.Trp153fs)
|
rs281860307
|
|
NM_005247.4(FGF3):c.466T>C (p.Ser156Pro)
|
rs121917703
|
|
NM_005247.4(FGF3):c.616del (p.Val206fs)
|
rs281860305
|
|
NM_005321.3(H1-4):c.365dup (p.Ala123fs)
|
rs768525914
|
|
NM_005321.3(H1-4):c.406_407insT (p.Lys136fs)
|
rs1764192704
|
|
NM_005321.3(H1-4):c.407dup (p.Lys137fs)
|
rs1764192628
|
|
NM_005321.3(H1-4):c.408dup (p.Lys137fs)
|
rs1581429395
|
|
NM_005321.3(H1-4):c.414dup (p.Lys139fs)
|
rs1581429403
|
|
NM_005321.3(H1-4):c.416dup (p.Lys140fs)
|
rs1764193257
|
|
NM_005321.3(H1-4):c.425_431delinsAGGGGGTT (p.Thr142fs)
|
rs1581429434
|
|
NM_005321.3(H1-4):c.425delinsAG (p.Thr142fs)
|
rs1581429431
|
|
NM_005321.3(H1-4):c.430dup (p.Ala144fs)
|
rs1131690805
|
|
NM_005321.3(H1-4):c.431dup (p.Ala145fs)
|
rs1764194450
|
|
NM_005321.3(H1-4):c.433dup (p.Ala145fs)
|
rs1554162872
|
|
NM_005321.3(H1-4):c.435dup (p.Thr146fs)
|
rs1764194669
|
|
NM_005321.3(H1-4):c.436_458del (p.Thr146fs)
|
rs1131690807
|
|
NM_005321.3(H1-4):c.440_441del (p.Pro147fs)
|
rs1131690806
|
|
NM_005321.3(H1-4):c.447dup (p.Ser150fs)
|
rs1581429514
|
|
NM_005321.3(H1-4):c.454_455insT (p.Lys152fs)
|
rs1554162894
|
|
NM_005321.3(H1-4):c.464dup (p.Lys157fs)
|
rs1581429554
|
|
NM_005332.2(HBZ):c.330_*22601del
|
|
|
NM_005333.5(HCCS):c.475G>A (p.Glu159Lys)
|
rs193929392
|
|
NM_005333.5(HCCS):c.589C>T (p.Arg197Ter)
|
rs121917888
|
|
NM_005333.5(HCCS):c.649C>T (p.Arg217Cys)
|
rs121917889
|
|
NM_005334.3(HCFC1):c.202C>G (p.Gln68Glu)
|
|
|
NM_005334.3(HCFC1):c.217G>A (p.Ala73Thr)
|
rs397515487
|
|
NM_005334.3(HCFC1):c.218C>T (p.Ala73Val)
|
rs397515486
|
|
NM_005334.3(HCFC1):c.307T>C (p.Tyr103His)
|
|
|
NM_005334.3(HCFC1):c.343G>A (p.Ala115Thr)
|
|
|
NM_005334.3(HCFC1):c.344C>T (p.Ala115Val)
|
rs397515485
|
|
NM_005359.6(SMAD4):c.1081C>T (p.Arg361Cys)
|
rs80338963
|
|
NM_005359.6(SMAD4):c.1162C>T (p.Gln388Ter)
|
rs80338964
|
|
NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs)
|
rs80338965
|
|
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val)
|
rs281875322
|
|
NM_005359.6(SMAD4):c.1499T>C (p.Ile500Thr)
|
rs281875321
|
|
NM_005359.6(SMAD4):c.1500A>G (p.Ile500Met)
|
rs281875320
|
|
NM_005378.6(MYCN):c.1105_1106dup (p.Ser369fs)
|
rs1572221400
|
|
NM_005378.6(MYCN):c.1117C>T (p.Arg373Ter)
|
rs754137452
|
|
NM_005378.6(MYCN):c.1178G>A (p.Arg393His)
|
rs104893646
|
|
NM_005378.6(MYCN):c.1181G>A (p.Arg394His)
|
rs104893648
|
|
NM_005378.6(MYCN):c.964C>T (p.Arg322Ter)
|
rs759103701
|
|
NM_005413.4(SIX3):c.676C>G (p.Leu226Val)
|
rs121917878
|
|
NM_005413.4(SIX3):c.696_705del (p.Asn232fs)
|
rs397515502
|
|
NM_005413.4(SIX3):c.749T>C (p.Val250Ala)
|
rs121917880
|
|
NM_005413.4(SIX3):c.770G>C (p.Arg257Pro)
|
rs121917879
|
|
NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp)
|
rs587776935
|
|
NM_005465.7(AKT3):c.548T>A (p.Val183Asp)
|
rs886041100
|
|
NM_005465.7(AKT3):c.686A>G (p.Asn229Ser)
|
rs397514605
|
|
NM_005476.7(GNE):c.1571C>T (p.Ala524Val)
|
rs764698870
|
|
NM_005476.7(GNE):c.2086G>A (p.Val696Met)
|
rs121908627
|
|
NM_005476.7(GNE):c.38G>C (p.Cys13Ser)
|
rs1209266607
|
|
NM_005476.7(GNE):c.788G>T (p.Arg263Leu)
|
rs121908623
|
|
NM_005476.7(GNE):c.796C>T (p.Arg266Trp)
|
rs121908621
|
|
NM_005476.7(GNE):c.797G>A (p.Arg266Gln)
|
rs121908622
|
|
NM_005506.4(SCARB2):c.1016dup (p.His341fs)
|
rs886041077
|
|
NM_005506.4(SCARB2):c.1087C>A (p.His363Asn)
|
rs758857853
|
|
NM_005506.4(SCARB2):c.1114-2A>C
|
rs727502781
|
|
NM_005506.4(SCARB2):c.111del (p.Ile37fs)
|
rs886041072
|
|
NM_005506.4(SCARB2):c.1239+1G>T
|
rs727502772
|
|
NM_005506.4(SCARB2):c.1258del (p.Glu420fs)
|
rs727502782
|
|
NM_005506.4(SCARB2):c.1385_1390delinsATGCATGCACC (p.Gly462fs)
|
rs886041079
|
|
NM_005506.4(SCARB2):c.1412A>G (p.Glu471Gly)
|
rs755903502
|
|
NM_005506.4(SCARB2):c.296del (p.Asn99fs)
|
rs886041073
|
|
NM_005506.4(SCARB2):c.424-2A>C
|
rs886041074
|
|
NM_005506.4(SCARB2):c.434_435dup (p.Trp146fs)
|
rs727502773
|
|
NM_005506.4(SCARB2):c.533G>A (p.Trp178Ter)
|
rs121909119
|
|
NM_005506.4(SCARB2):c.666_670del (p.Tyr222_Asn224delinsTer)
|
rs886041075
|
|
NM_005506.4(SCARB2):c.704+1G>C
|
rs886041076
|
|
NM_005554.4(KRT6A):c.510CAA[2] (p.Asn172del)
|
rs606231214
|
|
NM_005554.4(KRT6A):c.511A>G (p.Asn171Asp)
|
rs62635294
|
|
NM_005554.4(KRT6A):c.511A>T (p.Asn171Tyr)
|
rs62635294
|
|
NM_005554.4(KRT6A):c.512A>G (p.Asn171Ser)
|
rs58556099
|
|
NM_005554.4(KRT6A):c.513C>A (p.Asn171Lys)
|
rs59685571
|
|
NM_005562.3(LAMC2):c.283C>T (p.Arg95Ter)
|
rs80356683
|
|
NM_005572.4(LMNA):c.1711C>A (p.Arg571Ser)
|
rs80338938
|
|
NM_005609.4(PYGM):c.1240C>G (p.Arg414Gly)
|
rs11231866
|
|
NM_005609.4(PYGM):c.2125TTC[1] (p.Phe710del)
|
rs527236147
|
|
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg)
|
rs119103258
|
|
NM_005609.4(PYGM):c.255C>A (p.Tyr85Ter)
|
rs527236146
|
|
NM_005609.4(PYGM):c.564C>A (p.Asn188Lys)
|
rs604595
|
|
NM_005629.4(SLC6A8):c.1216TTC[2] (p.Phe408del)
|
rs80338740
|
|
NM_005629.4(SLC6A8):c.318CTT[1] (p.Phe107del)
|
rs80338739
|
|
NM_005670.4(EPM2A):c.136G>C (p.Ala46Pro)
|
rs374338349
|
|
NM_005859.5(PURA):c.289A>G (p.Lys97Glu)
|
rs587782994
|
|
NM_005859.5(PURA):c.596G>C (p.Arg199Pro)
|
rs587783001
|
|
NM_005859.5(PURA):c.691TTC[2] (p.Phe233del)
|
rs786204835
|
|
NM_005859.5(PURA):c.734G>C (p.Arg245Pro)
|
rs1554129118
|
|
NM_005859.5(PURA):c.812_814del (p.Phe271del)
|
rs587782991
|
|
NM_005982.4(SIX1):c.317T>G (p.Val106Gly)
|
rs397515560
|
|
NM_005982.4(SIX1):c.328C>T (p.Arg110Trp)
|
rs80356459
|
|
NM_005982.4(SIX1):c.334C>T (p.Arg112Cys)
|
rs397515561
|
|
NM_005982.4(SIX1):c.373G>A (p.Glu125Lys)
|
rs797044960
|
|
NM_005982.4(SIX1):c.386A>G (p.Tyr129Cys)
|
rs104894478
|
|
NM_005982.4(SIX1):c.397_399del (p.Glu133del)
|
rs80356460
|
|
NM_005982.4(SIX1):c.50T>A (p.Val17Glu)
|
rs397515562
|
|
NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys)
|
rs74315205
|
|
NM_006009.4(TUBA1A):c.1204C>T (p.Arg402Cys)
|
rs587784483
|
|
NM_006009.4(TUBA1A):c.1205G>A (p.Arg402His)
|
rs137853044
|
|
NM_006009.4(TUBA1A):c.1265G>A (p.Arg422His)
|
rs137853050
|
|
NM_006009.4(TUBA1A):c.790C>T (p.Arg264Cys)
|
rs137853043
|
|
NM_006012.4(CLPP):c.270+4A>G
|
rs398123035
|
|
NM_006012.4(CLPP):c.433A>C (p.Thr145Pro)
|
rs398123033
|
|
NM_006012.4(CLPP):c.440G>C (p.Cys147Ser)
|
rs398123034
|
|
NM_006086.4(TUBB3):c.1138C>T (p.Arg380Cys)
|
rs864321717
|
|
NM_006086.4(TUBB3):c.1228G>A (p.Glu410Lys)
|
rs267607165
|
|
NM_006086.4(TUBB3):c.1249G>A (p.Asp417Asn)
|
rs267607164
|
|
NM_006086.4(TUBB3):c.1249G>C (p.Asp417His)
|
rs267607164
|
|
NM_006086.4(TUBB3):c.185G>A (p.Arg62Gln)
|
rs864321714
|
|
NM_006086.4(TUBB3):c.211G>A (p.Gly71Arg)
|
rs864321715
|
|
NM_006086.4(TUBB3):c.292G>A (p.Gly98Ser)
|
rs587784505
|
|
NM_006086.4(TUBB3):c.784C>T (p.Arg262Cys)
|
rs267607162
|
|
NM_006086.4(TUBB3):c.785G>A (p.Arg262His)
|
rs864321716
|
|
NM_006086.4(TUBB3):c.904G>A (p.Ala302Thr)
|
rs267607163
|
|
NM_006087.3:c.900C>A
|
|
|
NM_006087.4(TUBB4A):c.1054G>A (p.Ala352Thr)
|
rs886041015
|
|
NM_006087.4(TUBB4A):c.1061G>A (p.Cys354Tyr)
|
rs886041016
|
|
NM_006087.4(TUBB4A):c.1091C>A (p.Ala364Asp)
|
rs886041017
|
|
NM_006087.4(TUBB4A):c.1099T>A (p.Phe367Ile)
|
rs886041018
|
|
NM_006087.4(TUBB4A):c.1099T>C (p.Phe367Leu)
|
rs886041018
|
|
NM_006087.4(TUBB4A):c.1162A>G (p.Met388Val)
|
rs886041019
|
|
NM_006087.4(TUBB4A):c.1163T>C (p.Met388Thr)
|
rs886041020
|
|
NM_006087.4(TUBB4A):c.1164G>A (p.Met388Ile)
|
rs797045074
|
|
NM_006087.4(TUBB4A):c.1172G>A (p.Arg391His)
|
rs886041021
|
|
NM_006087.4(TUBB4A):c.1181T>G (p.Phe394Cys)
|
rs886041022
|
|
NM_006087.4(TUBB4A):c.1228G>A (p.Glu410Lys)
|
rs587777428
|
|
NM_006087.4(TUBB4A):c.467G>T (p.Arg156Leu)
|
rs587777429
|
|
NM_006087.4(TUBB4A):c.4C>G (p.Arg2Gly)
|
rs587776983
|
|
NM_006087.4(TUBB4A):c.4C>T (p.Arg2Trp)
|
rs587776983
|
|
NM_006087.4(TUBB4A):c.533C>G (p.Thr178Arg)
|
rs587777468
|
|
NM_006087.4(TUBB4A):c.533C>T (p.Thr178Met)
|
rs587777468
|
|
NM_006087.4(TUBB4A):c.544C>A (p.Pro182Thr)
|
rs886041008
|
|
NM_006087.4(TUBB4A):c.568C>T (p.His190Tyr)
|
rs761635539
|
|
NM_006087.4(TUBB4A):c.5G>A (p.Arg2Gln)
|
rs587777467
|
|
NM_006087.4(TUBB4A):c.716G>T (p.Cys239Phe)
|
rs886041009
|
|
NM_006087.4(TUBB4A):c.730G>A (p.Gly244Ser)
|
rs886041007
|
|
NM_006087.4(TUBB4A):c.731G>A (p.Gly244Asp)
|
rs886041010
|
|
NM_006087.4(TUBB4A):c.731G>T (p.Gly244Val)
|
rs886041010
|
|
NM_006087.4(TUBB4A):c.745G>A (p.Asp249Asn)
|
rs483352809
|
|
NM_006087.4(TUBB4A):c.763G>A (p.Val255Ile)
|
rs767399782
|
|
NM_006087.4(TUBB4A):c.785G>A (p.Arg262His)
|
rs886039470
|
|
NM_006087.4(TUBB4A):c.845G>C (p.Arg282Pro)
|
rs756762431
|
|
NM_006087.4(TUBB4A):c.874C>A (p.Gln292Lys)
|
rs886041011
|
|
NM_006087.4(TUBB4A):c.900G>T (p.Met300Ile)
|
rs886041012
|
|
NM_006087.4(TUBB4A):c.941C>T (p.Ala314Val)
|
rs886041013
|
|
NM_006087.4(TUBB4A):c.968T>G (p.Met323Arg)
|
rs886041014
|
|
NM_006147.4(IRF6):c.-3-3C>A
|
rs1404291807
|
|
NM_006147.4(IRF6):c.1279G>T (p.Asp427Tyr)
|
rs2102534810
|
|
NM_006147.4(IRF6):c.250C>G (p.Arg84Gly)
|
rs121434226
|
|
NM_006147.4(IRF6):c.250C>T (p.Arg84Cys)
|
rs121434226
|
|
NM_006147.4(IRF6):c.251G>A (p.Arg84His)
|
rs121434227
|
|
NM_006147.4(IRF6):c.251G>C (p.Arg84Pro)
|
rs121434227
|
|
NM_006158.5(NEFL):c.1001A>C (p.Gln334Pro)
|
rs281865140
|
|
NM_006158.5(NEFL):c.23C>G (p.Pro8Arg)
|
rs61491953
|
|
NM_006158.5(NEFL):c.293A>G (p.Asn98Ser)
|
rs58982919
|
|
NM_006158.5(NEFL):c.446C>T (p.Ala149Val)
|
rs59101996
|
|
NM_006158.5(NEFL):c.64C>A (p.Pro22Thr)
|
rs28928910
|
|
NM_006158.5(NEFL):c.64C>T (p.Pro22Ser)
|
rs28928910
|
|
NM_006158.5(NEFL):c.65C>G (p.Pro22Arg)
|
rs267607538
|
|
NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg)
|
rs121913272
|
|
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys)
|
rs121913273
|
|
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys)
|
rs104886003
|
|
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)
|
rs121913279
|
|
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu)
|
rs121913279
|
|
NM_006245.4(PPP2R5D):c.1258G>A (p.Glu420Lys)
|
rs863225080
|
|
NM_006245.4(PPP2R5D):c.157C>T (p.Pro53Ser)
|
rs757369209
|
|
NM_006245.4(PPP2R5D):c.589G>A (p.Glu197Lys)
|
rs863225081
|
|
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
|
|
|
NM_006245.4(PPP2R5D):c.598G>A (p.Glu200Lys)
|
rs863225079
|
|
NM_006245.4(PPP2R5D):c.602C>G (p.Pro201Arg)
|
rs876657383
|
|
NM_006245.4(PPP2R5D):c.619T>A (p.Trp207Arg)
|
rs869320691
|
|
NM_006261.5(PROP1):c.112_124del (p.Ser38fs)
|
rs587776682
|
|
NM_006261.5(PROP1):c.263T>C (p.Phe88Ser)
|
rs121917841
|
|
NM_006261.5(PROP1):c.301_302del (p.Leu102fs)
|
rs193922688
|
|
NM_006265.3(RAD21):c.1127C>G (p.Pro376Arg)
|
rs387907212
|
|
NM_006265.3(RAD21):c.1753T>C (p.Cys585Arg)
|
rs387907213
|
|
NM_006267.5(RANBP2):c.1958C>T (p.Thr653Ile)
|
rs121434503
|
|
NM_006267.5(RANBP2):c.1966A>G (p.Ile656Val)
|
rs121434504
|
|
NM_006329.4(FBLN5):c.1090G>T (p.Asp364Tyr)
|
rs1802492
|
|
NM_006329.4(FBLN5):c.1171G>T (p.Glu391Ter)
|
rs80338767
|
|
NM_006329.4(FBLN5):c.432C>G (p.Cys144Trp)
|
|
|
NM_006329.4(FBLN5):c.649T>C (p.Cys217Arg)
|
rs80338766
|
|
NM_006329.4(FBLN5):c.679T>C (p.Ser227Pro)
|
rs28939370
|
|
NM_006383.4(CIB2):c.192G>C (p.Glu64Asp)
|
rs145415848
|
|
NM_006392.3(NOP56):c.3+71_3+76GGCCTG(3_14)
|
|
|
NM_006392.4(NOP56):c.3+71GGCCTG[(650_?)]
|
|
|
NM_006397.3(RNASEH2A):c.109G>A (p.Gly37Ser)
|
rs76857106
|
|
NM_006397.3(RNASEH2A):c.207dup (p.Thr70fs)
|
rs77672568
|
|
NM_006397.3(RNASEH2A):c.322C>T (p.Arg108Trp)
|
rs76436818
|
|
NM_006397.3(RNASEH2A):c.690C>A (p.Phe230Leu)
|
rs79767407
|
|
NM_006397.3(RNASEH2A):c.716_717dup (p.Thr240fs)
|
rs78705193
|
|
NM_006397.3(RNASEH2A):c.75C>T (p.Arg25=)
|
rs397515479
|
|
NM_006412.3(AGPAT2):c.(316+1_317-1)_(588+1_589-1)del (p.Leu107AlafsTer279)
|
|
|
NM_006412.4(AGPAT2):c.182+1G>A
|
rs1057517650
|
|
NM_006412.4(AGPAT2):c.183-2A>G
|
rs1057517649
|
|
NM_006412.4(AGPAT2):c.194G>A (p.Trp65Ter)
|
rs1057517651
|
|
NM_006412.4(AGPAT2):c.335C>T (p.Pro112Leu)
|
rs886063722
|
|
NM_006412.4(AGPAT2):c.514G>A (p.Glu172Lys)
|
rs748157664
|
|
NM_006412.4(AGPAT2):c.538del (p.Asp180fs)
|
rs1057517653
|
|
NM_006412.4(AGPAT2):c.661+2T>G
|
rs1057517654
|
|
NM_006412.4(AGPAT2):c.676C>T (p.Gln226Ter)
|
rs1057517655
|
|
NM_006412.4(AGPAT2):c.713C>G (p.Ala238Gly)
|
rs200656731
|
|
NM_006412.4(AGPAT2):c.755_763del (p.Met252_Thr254del)
|
rs1057517656
|
|
NM_006415.4(SPTLC1):c.1160G>C (p.Gly387Ala)
|
rs119482084
|
|
NM_006415.4(SPTLC1):c.398G>A (p.Cys133Tyr)
|
rs119482081
|
|
NM_006415.4(SPTLC1):c.399T>G (p.Cys133Trp)
|
rs119482082
|
|
NM_006432.5(NPC2):c.133C>T (p.Gln45Ter)
|
rs80358262
|
|
NM_006432.5(NPC2):c.199T>C (p.Ser67Pro)
|
rs11694
|
|
NM_006432.5(NPC2):c.27del (p.Leu10fs)
|
rs80358267
|
|
NM_006432.5(NPC2):c.332del (p.Asn111fs)
|
rs80358265
|
|
NM_006432.5(NPC2):c.352G>T (p.Glu118Ter)
|
rs80358266
|
|
NM_006432.5(NPC2):c.58G>T (p.Glu20Ter)
|
rs80358260
|
|
NM_006493.4(CLN5):c.1028_1029del (p.Thr342_Tyr343insTer)
|
rs386833969
|
|
NM_006493.4(CLN5):c.78G>A (p.Trp26Ter)
|
rs104894385
|
|
NM_006502.2(POLH):c.1075-?_1244+?del
|
|
|
NM_006502.3(POLH):c.1664del (p.Asn555fs)
|
rs886039225
|
|
NM_006502.3(POLH):c.916G>T (p.Glu306Ter)
|
rs121908562
|
|
NM_006516.4(SLC2A1):c.1402C>T (p.Arg468Trp)
|
rs267607059
|
|
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys)
|
rs80359818
|
|
NM_006516.4(SLC2A1):c.377G>A (p.Arg126His)
|
rs80359816
|
|
NM_006516.4(SLC2A1):c.377G>T (p.Arg126Leu)
|
rs80359816
|
|
NM_006516.4(SLC2A1):c.766_767delinsGT (p.Lys256Val)
|
rs80359822
|
|
NM_006516.4(SLC2A1):c.884C>T (p.Thr295Met)
|
rs80359823
|
|
NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp)
|
rs80359825
|
|
NM_006517.5(SLC16A2):c.1079T>G (p.Leu360Trp)
|
rs104894939
|
|
NM_006517.5(SLC16A2):c.1253T>C (p.Leu418Pro)
|
rs367543059
|
|
NM_006517.5(SLC16A2):c.1276TTC[1] (p.Phe427del)
|
rs113994164
|
|
NM_006517.5(SLC16A2):c.1481T>C (p.Leu494Pro)
|
rs104894938
|
|
NM_006517.5(SLC16A2):c.1613del (p.Pro538fs)
|
rs113994166
|
|
NM_006517.5(SLC16A2):c.359C>T (p.Ser120Phe)
|
rs113994162
|
|
NM_006567.5(FARS2):c.424G>T (p.Asp142Tyr)
|
rs145555213
|
|
NM_006567.5(FARS2):c.431A>G (p.Tyr144Cys)
|
rs397514610
|
|
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter)
|
rs199469465
|
|
NM_006662.3(SRCAP):c.7330C>T (p.Arg2444Ter)
|
rs199469464
|
|
NM_006701.2:c.Exon 3 deletion
|
|
|
NM_006701.5(TXNL4A):c.153+3A>G
|
rs879255559
|
|
NM_006701.5(TXNL4A):c.154-959_257+638del
|
|
|
NM_006790.3(MYOT):c.170C>T (p.Thr57Ile)
|
rs28937597
|
|
NM_006796.3(AFG3L2):c.1295A>C (p.Asn432Thr)
|
rs151344512
|
|
NM_006796.3(AFG3L2):c.1958dup (p.Thr654fs)
|
rs2143124461
|
|
NM_006796.3(AFG3L2):c.1996A>G (p.Met666Val)
|
rs151344514
|
|
NM_006796.3(AFG3L2):c.1997T>C (p.Met666Thr)
|
rs151344515
|
|
NM_006796.3(AFG3L2):c.1997T>G (p.Met666Arg)
|
rs151344515
|
|
NM_006796.3(AFG3L2):c.2011G>A (p.Gly671Arg)
|
rs151344517
|
|
NM_006796.3(AFG3L2):c.2012G>A (p.Gly671Glu)
|
rs151344518
|
|
NM_006796.3(AFG3L2):c.2062C>A (p.Pro688Thr)
|
rs797045221
|
|
NM_006796.3(AFG3L2):c.2065T>A (p.Tyr689Asn)
|
rs1598820860
|
|
NM_006796.3(AFG3L2):c.2098G>A (p.Glu700Lys)
|
rs151344522
|
|
NM_006888.6(CALM1):c.161A>T (p.Asn54Ile)
|
rs267607276
|
|
NM_006888.6(CALM1):c.293A>G (p.Asn98Ser)
|
rs267607277
|
|
NM_006894.4(FMO3):c.[472G>A;560T>C]
|
|
|
NM_006894.4(FMO3):c.[472G>A;923A>G]
|
|
|
NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr)
|
rs1057518801
|
|
NM_007055.4(POLR3A):c.1048+1G>A
|
rs2131958310
|
|
NM_007055.4(POLR3A):c.1160C>G (p.Ala387Gly)
|
rs1307896663
|
|
NM_007055.4(POLR3A):c.1186G>T (p.Val396Leu)
|
rs1428468560
|
|
NM_007055.4(POLR3A):c.1289+3A>C
|
rs750084731
|
|
NM_007055.4(POLR3A):c.1433C>G (p.Ala478Gly)
|
rs946655603
|
|
NM_007055.4(POLR3A):c.1658C>T (p.Thr553Ile)
|
rs1847450791
|
|
NM_007055.4(POLR3A):c.1674C>G (p.Phe558Leu)
|
rs267608668
|
|
NM_007055.4(POLR3A):c.1740dup (p.Val581fs)
|
rs781745727
|
|
NM_007055.4(POLR3A):c.1771-6C>G
|
rs115020338
|
|
NM_007055.4(POLR3A):c.1797G>C (p.Gln599His)
|
rs2131949315
|
|
NM_007055.4(POLR3A):c.1804A>C (p.Ser602Arg)
|
rs762708292
|
|
NM_007055.4(POLR3A):c.1907C>A (p.Ser636Tyr)
|
rs267608676
|
|
NM_007055.4(POLR3A):c.1909+18G>A
|
rs267608677
|
|
NM_007055.4(POLR3A):c.1935G>C (p.Leu645Phe)
|
rs751735990
|
|
NM_007055.4(POLR3A):c.2005C>G (p.Arg669Gly)
|
rs774007232
|
|
NM_007055.4(POLR3A):c.2011T>C (p.Trp671Arg)
|
rs1446265632
|
|
NM_007055.4(POLR3A):c.2039T>C (p.Met680Thr)
|
rs2131947804
|
|
NM_007055.4(POLR3A):c.2098A>T (p.Ile700Phe)
|
rs746116821
|
|
NM_007055.4(POLR3A):c.2171G>A (p.Cys724Tyr)
|
rs267608679
|
|
NM_007055.4(POLR3A):c.2324A>T (p.Asn775Ile)
|
rs267608672
|
|
NM_007055.4(POLR3A):c.2411T>C (p.Ile804Thr)
|
rs1847352019
|
|
NM_007055.4(POLR3A):c.2547C>G (p.Phe849Leu)
|
rs1847342207
|
|
NM_007055.4(POLR3A):c.2549A>G (p.His850Arg)
|
rs2131942139
|
|
NM_007055.4(POLR3A):c.2554A>G (p.Met852Val)
|
rs267608671
|
|
NM_007055.4(POLR3A):c.2618G>A (p.Arg873Gln)
|
rs2131937171
|
|
NM_007055.4(POLR3A):c.2660A>T (p.Asp887Val)
|
rs1467597625
|
|
NM_007055.4(POLR3A):c.2690T>A (p.Ile897Asn)
|
rs267608681
|
|
NM_007055.4(POLR3A):c.2710G>A (p.Gly904Arg)
|
rs748548960
|
|
NM_007055.4(POLR3A):c.272C>T (p.Pro91Leu)
|
rs1375717376
|
|
NM_007055.4(POLR3A):c.2810A>T (p.Glu937Val)
|
rs1210221584
|
|
NM_007055.4(POLR3A):c.2821A>C (p.Ser941Arg)
|
rs1259778579
|
|
NM_007055.4(POLR3A):c.2830G>T (p.Glu944Ter)
|
rs267608674
|
|
NM_007055.4(POLR3A):c.2988+1G>T
|
rs201733323
|
|
NM_007055.4(POLR3A):c.3205C>T (p.Arg1069Trp)
|
rs1476819432
|
|
NM_007055.4(POLR3A):c.364AAG[1] (p.Lys123del)
|
rs780755978
|
|
NM_007055.4(POLR3A):c.3742_3743insACC (p.Ser1248delinsTyrPro)
|
rs267608669
|
|
NM_007055.4(POLR3A):c.3745A>C (p.Asn1249His)
|
rs1847152494
|
|
NM_007055.4(POLR3A):c.4006C>T (p.Gln1336Ter)
|
rs267608675
|
|
NM_007055.4(POLR3A):c.441dup (p.Asp148Ter)
|
rs2131961013
|
|
NM_007055.4(POLR3A):c.552_553delinsT (p.Lys184fs)
|
rs2131960689
|
|
NM_007055.4(POLR3A):c.930G>C (p.Trp310Cys)
|
rs1217230904
|
|
NM_007118.4(TRIO):c.3239A>T (p.Asn1080Ile)
|
rs879255628
|
|
NM_007118.4(TRIO):c.3752del (p.Asp1251fs)
|
rs879255623
|
|
NM_007118.4(TRIO):c.4128G>A (p.Trp1376Ter)
|
rs879255622
|
|
NM_007118.4(TRIO):c.4283G>A (p.Arg1428Gln)
|
rs879255626
|
|
NM_007118.4(TRIO):c.4381C>A (p.Pro1461Thr)
|
rs879255627
|
|
NM_007118.4(TRIO):c.4466del (p.Gln1489fs)
|
rs879255625
|
|
NM_007118.4(TRIO):c.649A>T (p.Arg217Ter)
|
rs879255624
|
|
NM_007129.4(ZIC2):c.177_178ins56
|
|
|
NM_007129.5(ZIC2):c.1042_1048del (p.Glu348fs)
|
rs397515365
|
|
NM_007129.5(ZIC2):c.1091_1092del (p.Gln364fs)
|
rs397515500
|
|
NM_007129.5(ZIC2):c.1318dup (p.Leu440fs)
|
rs397515364
|
|
NM_007129.5(ZIC2):c.1366GCN[45] (p.Ala456[15])
|
|
|
NM_007129.5(ZIC2):c.936del (p.Lys312fs)
|
rs397515499
|
|
NM_007272.3(CTRC):c.180C>A (p.Gly60=)
|
rs497078
|
|
NM_007272.3(CTRC):c.738_761del (p.Lys247_Arg254del)
|
rs515726210
|
|
NM_007294.4(BRCA1):c.115T>G (p.Cys39Gly)
|
rs80357164
|
|
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)
|
rs80357906
|
|
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs)
|
rs80357914
|
|
NM_007294.4(BRCA1):c.815_824dup (p.Thr276fs)
|
rs387906563
|
|
NM_007348.4(ATF6):c.1533+1G>C
|
rs797045172
|
|
NM_007375.4(TARDBP):c.1042G>T (p.Gly348Cys)
|
rs80356733
|
|
NM_007375.4(TARDBP):c.1055A>G (p.Asn352Ser)
|
rs80356734
|
|
NM_007375.4(TARDBP):c.1121dup (p.Tyr374Ter)
|
rs80356737
|
|
NM_007375.4(TARDBP):c.1150G>C (p.Gly384Arg)
|
rs797044594
|
|
NM_007375.4(TARDBP):c.1153T>G (p.Trp385Gly)
|
rs797044595
|
|
NM_007375.4(TARDBP):c.506A>G (p.Asp169Gly)
|
rs80356717
|
|
NM_007375.4(TARDBP):c.883G>A (p.Gly295Ser)
|
rs80356723
|
|
NM_007375.4(TARDBP):c.892G>A (p.Gly298Ser)
|
rs4884357
|
|
NM_007375.4(TARDBP):c.943G>A (p.Ala315Thr)
|
rs80356726
|
|
NM_012144.4(DNAI1):c.2001+1G>A
|
rs397515563
|
|
NM_012203.1(GRHPR):c.866-25CT[9]
|
rs34302950
|
|
NM_012203.2(GRHPR):c.103del (p.Asp35fs)
|
rs80356708
|
|
NM_012203.2(GRHPR):c.404+3_404+6del
|
rs180177309
|
|
NM_012208.4(HARS2):c.1010A>G (p.Tyr337Cys)
|
|
|
NM_012208.4(HARS2):c.1102G>T (p.Val368Leu)
|
rs376177973
|
|
NM_012233.3(RAB3GAP1):c.2801del (p.Pro934fs)
|
rs730882182
|
|
NM_012233.3(RAB3GAP1):c.2865_2866insTTCT (p.Pro956fs)
|
rs1553450718
|
|
NM_012233.3(RAB3GAP1):c.52A>C (p.Thr18Pro)
|
rs587777154
|
|
NM_012233.3(RAB3GAP1):c.560G>C (p.Arg187Pro)
|
rs1553444935
|
|
NM_012233.3(RAB3GAP1):c.649-2A>G
|
rs730882183
|
|
NM_012233.3(RAB3GAP1):c.71A>T (p.Glu24Val)
|
rs587777155
|
|
NM_012233.3(RAB3GAP1):c.748+1G>A
|
rs587776651
|
|
NM_012233.3(RAB3GAP1):c.9del (p.Asp4fs)
|
rs1553437083
|
|
NM_012330.4(KAT6B):c.2299C>T (p.His767Tyr)
|
rs1589750251
|
|
NM_012330.4(KAT6B):c.3147G>A (p.Pro1049=)
|
rs886041207
|
|
NM_012330.4(KAT6B):c.3769_3772del (p.Lys1258fs)
|
rs199470470
|
|
NM_012330.4(KAT6B):c.4205_4206del (p.Ser1402fs)
|
rs199470477
|
|
NM_012330.4(KAT6B):c.5201_5210dup (p.Gln1737fs)
|
rs199470482
|
|
NM_012330.4(KAT6B):c.5389C>T (p.Arg1797Ter)
|
rs199470484
|
|
NM_012414.4(RAB3GAP2):c.3154G>T (p.Gly1052Cys)
|
rs121434310
|
|
NM_012414.4(RAB3GAP2):c.499_507del (p.Phe167_Thr169del)
|
rs1553278569
|
|
NM_012463.4(ATP6V0A2):c.*115C>T
|
rs367543009
|
|
NM_012463.4(ATP6V0A2):c.1324G>T (p.Glu442Ter)
|
rs80356755
|
|
NM_012463.4(ATP6V0A2):c.1929del (p.Gln645fs)
|
rs80356756
|
|
NM_012463.4(ATP6V0A2):c.2176-3_2176-2del
|
rs367543007
|
|
NM_012463.4(ATP6V0A2):c.2302G>A (p.Asp768Asn)
|
rs367543008
|
|
NM_012463.4(ATP6V0A2):c.294+1G>A
|
rs80356751
|
|
NM_012463.4(ATP6V0A2):c.353_354del (p.Leu118fs)
|
rs80356752
|
|
NM_012463.4(ATP6V0A2):c.732-2A>G
|
rs80356753
|
|
NM_012463.4(ATP6V0A2):c.840del (p.Glu281fs)
|
rs80356754
|
|
NM_012472.6(DNAAF11):c.574C>T (p.Gln192Ter)
|
rs141945265
|
|
NM_012472.6(DNAAF11):c.576dup (p.Glu193fs)
|
rs397515425
|
|
NM_012472.6(DNAAF11):c.630del (p.Trp210fs)
|
rs760123202
|
|
NM_013236.3(ATXN10):c.1173+54822_1173+54826ATTCT(360_370)
|
|
|
NM_013236.3(ATXN10):c.1173+54822_1173+54826ATTCT(400_760)
|
|
|
NM_013236.3(ATXN10):c.1173+54822_1173+54826ATTCT(800_4500)
|
|
|
NM_013236.3(ATXN10):c.1173+54822_1173+54826ATTCT[280]
|
|
|
NM_013236.3(ATXN10):c.1173+54822_1173+54826ATTCT[850]
|
|
|
NM_013236.5(ATXN10):c.1173+54822_1173ATTCT[10_32]
|
rs60726084
|
|
NM_013266.4(CTNNA3):c.2293TTG[1] (p.Leu766del)
|
rs587777135
|
|
NM_013266.4(CTNNA3):c.281T>A (p.Val94Asp)
|
rs587777134
|
|
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs)
|
rs886041125
|
|
NM_014008.5(CCDC22):c.1670A>G (p.Tyr557Cys)
|
rs863225429
|
|
NM_014008.5(CCDC22):c.49A>G (p.Thr17Ala)
|
rs863225428
|
|
NM_014043.4(CHMP2B):c.311C>A (p.Thr104Asn)
|
rs281864934
|
|
NM_014043.4(CHMP2B):c.442G>T (p.Asp148Tyr)
|
rs63750653
|
|
NM_014043.4(CHMP2B):c.493C>T (p.Gln165Ter)
|
rs63750355
|
|
NM_014043.4(CHMP2B):c.532-1G>A
|
rs63750652
|
|
NM_014043.4(CHMP2B):c.618A>C (p.Gln206His)
|
rs63751126
|
|
NM_014112.4(TRPS1):c.(2823+1_2824-1)_(*1_?)del
|
|
|
NM_014112.5(TRPS1):c.1010_1014dup (p.Cys339fs)
|
rs1554596430
|
|
NM_014112.5(TRPS1):c.1093C>T (p.Gln365Ter)
|
rs1554596393
|
|
NM_014112.5(TRPS1):c.1105C>T (p.Gln369Ter)
|
rs1554596391
|
|
NM_014112.5(TRPS1):c.1176dup (p.Asn393Ter)
|
rs1554596328
|
|
NM_014112.5(TRPS1):c.1231dup (p.Gln411fs)
|
rs1554596300
|
|
NM_014112.5(TRPS1):c.1460del (p.Lys487fs)
|
rs1554596193
|
|
NM_014112.5(TRPS1):c.1630C>T (p.Arg544Ter)
|
rs886040971
|
|
NM_014112.5(TRPS1):c.1870C>T (p.Arg624Ter)
|
rs121908431
|
|
NM_014112.5(TRPS1):c.1882C>T (p.Gln628Ter)
|
rs1554595930
|
|
NM_014112.5(TRPS1):c.2094C>A (p.Tyr698Ter)
|
rs1554595857
|
|
NM_014112.5(TRPS1):c.2179_2180del (p.Val727fs)
|
rs1554593099
|
|
NM_014112.5(TRPS1):c.2355_2356del (p.Lys786fs)
|
rs1554592995
|
|
NM_014112.5(TRPS1):c.2394dup (p.Ser799fs)
|
rs1554592981
|
|
NM_014112.5(TRPS1):c.2557C>T (p.Arg853Ter)
|
rs121908432
|
|
NM_014112.5(TRPS1):c.2731A>T (p.Asn911Tyr)
|
rs1554617581
|
|
NM_014112.5(TRPS1):c.2732A>G (p.Asn911Ser)
|
rs1554617580
|
|
NM_014112.5(TRPS1):c.2756T>C (p.Leu919Pro)
|
rs1554617573
|
|
NM_014112.5(TRPS1):c.2761C>T (p.Arg921Ter)
|
rs751565386
|
|
NM_014112.5(TRPS1):c.2762G>A (p.Arg921Gln)
|
rs121908435
|
|
NM_014112.5(TRPS1):c.2762G>C (p.Arg921Pro)
|
rs121908435
|
|
NM_014112.5(TRPS1):c.2783_2784insC (p.Val929fs)
|
rs1554617567
|
|
NM_014112.5(TRPS1):c.2794G>A (p.Ala932Thr)
|
rs1057518972
|
|
NM_014112.5(TRPS1):c.2795C>T (p.Ala932Val)
|
rs121908436
|
|
NM_014112.5(TRPS1):c.2801G>T (p.Gly934Val)
|
rs1554617561
|
|
NM_014112.5(TRPS1):c.2823+1G>T
|
rs1554617549
|
|
NM_014112.5(TRPS1):c.2824-23T>G
|
rs752405769
|
|
NM_014112.5(TRPS1):c.2852_2859dup (p.Gly954fs)
|
rs1554617078
|
|
NM_014112.5(TRPS1):c.2893C>T (p.Arg965Cys)
|
rs28939069
|
|
NM_014112.5(TRPS1):c.2894G>A (p.Arg965His)
|
rs28939070
|
|
NM_014112.5(TRPS1):c.2981_2984del (p.Glu994fs)
|
rs1554617011
|
|
NM_014112.5(TRPS1):c.3077del (p.Ser1026fs)
|
rs1554616971
|
|
NM_014112.5(TRPS1):c.3140del (p.Pro1047fs)
|
rs1554616950
|
|
NM_014112.5(TRPS1):c.3424del (p.Ser1142fs)
|
rs1554616802
|
|
NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp)
|
rs1057523157
|
|
NM_014159.7(SETD2):c.5219G>A (p.Arg1740Gln)
|
rs2107651195
|
|
NM_014191.4(SCN8A):c.629T>C (p.Phe210Ser)
|
rs879255693
|
|
NM_014191.4(SCN8A):c.641G>A (p.Gly214Asp)
|
rs879255694
|
|
NM_014191.4(SCN8A):c.643A>G (p.Asn215Asp)
|
rs879255695
|
|
NM_014191.4(SCN8A):c.647T>A (p.Val216Asp)
|
rs879255696
|
|
NM_014191.4(SCN8A):c.667A>G (p.Arg223Gly)
|
rs672601319
|
|
NM_014251.3(SLC25A13):c.1592G>A (p.Gly531Asp)
|
rs80338724
|
|
NM_014251.3(SLC25A13):c.15G>A (p.Lys5=)
|
rs80338715
|
|
NM_014251.3(SLC25A13):c.1801G>T (p.Glu601Ter)
|
rs80338727
|
|
NM_014251.3(SLC25A13):c.615+1G>C
|
rs80338718
|
|
NM_014251.3(SLC25A13):c.674C>A (p.Ser225Ter)
|
rs80338719
|
|
NM_014251.3(SLC25A13):c.852_855del (p.Met285fs)
|
rs80338720
|
|
NM_014252.4(SLC25A15):c.553TTC[3] (p.Phe188del)
|
rs202247803
|
|
NM_014252.4(SLC25A15):c.569G>A (p.Gly190Asp)
|
rs202247804
|
|
NM_014252.4(SLC25A15):c.658G>A (p.Gly220Arg)
|
rs202247805
|
|
NM_014252.4(SLC25A15):c.847C>T (p.Leu283Phe)
|
rs202247809
|
|
NM_014252.4(SLC25A15):c.95C>G (p.Thr32Arg)
|
rs121908536
|
|
NM_014297.3(ETHE1):c.-83_-79delCGCCC
|
rs1211555765
|
|
NM_014297.5(ETHE1):c.113A>G (p.Tyr38Cys)
|
rs1555765564
|
|
NM_014297.5(ETHE1):c.131_132del (p.Glu44fs)
|
rs761827730
|
|
NM_014297.5(ETHE1):c.164T>C (p.Leu55Pro)
|
rs182983506
|
|
NM_014297.5(ETHE1):c.222_223insA (p.Ala75fs)
|
rs1555765528
|
|
NM_014297.5(ETHE1):c.230del (p.Asn77fs)
|
rs1555765481
|
|
NM_014297.5(ETHE1):c.34C>T (p.Gln12Ter)
|
rs1555765701
|
|
NM_014297.5(ETHE1):c.406A>G (p.Thr136Ala)
|
rs1284200516
|
|
NM_014297.5(ETHE1):c.440_450del (p.His147fs)
|
rs1555762753
|
|
NM_014297.5(ETHE1):c.455C>T (p.Thr152Ile)
|
rs1317633085
|
|
NM_014297.5(ETHE1):c.482G>A (p.Cys161Tyr)
|
rs1555762722
|
|
NM_014297.5(ETHE1):c.487C>G (p.Arg163Gly)
|
rs28940289
|
|
NM_014297.5(ETHE1):c.505+1G>T
|
rs935855792
|
|
NM_014297.5(ETHE1):c.592dup (p.His198fs)
|
rs1555762070
|
|
NM_014297.5(ETHE1):c.604dup (p.Val202fs)
|
rs1555761934
|
|
NM_014297.5(ETHE1):c.66del (p.Ile23fs)
|
rs1555765689
|
|
NM_014317.5(PDSS1):c.1108A>C (p.Ser370Arg)
|
rs1057519354
|
|
NM_014317.5(PDSS1):c.661_662insT (p.Arg221fs)
|
rs1057519353
|
|
NM_014317.5(PDSS1):c.924T>G (p.Asp308Glu)
|
rs119463988
|
|
NM_014336.5(AIPL1):c.589G>C (p.Ala197Pro)
|
rs62637010
|
|
NM_014336.5(AIPL1):c.617T>A (p.Ile206Asn)
|
rs62637011
|
|
NM_014336.5(AIPL1):c.715T>C (p.Cys239Arg)
|
rs62637012
|
|
NM_014425.5(INVS):c.1417del (p.Ala473fs)
|
rs878855332
|
|
NM_014425.5(INVS):c.3125del (p.Asn1042fs)
|
rs878855333
|
|
NM_014491.4(FOXP2):c.1168_1169del (p.Gln390fs)
|
rs879253771
|
|
NM_014491.4(FOXP2):c.1217T>C (p.Met406Thr)
|
rs1343377230
|
|
NM_014491.4(FOXP2):c.1432C>T (p.Arg478Ter)
|
rs1474090446
|
|
NM_014491.4(FOXP2):c.1514C>T (p.Pro505Leu)
|
rs758513311
|
|
NM_014491.4(FOXP2):c.1591T>C (p.Tyr531His)
|
rs879253772
|
|
NM_014491.4(FOXP2):c.1607G>C (p.Arg536Pro)
|
rs758427088
|
|
NM_014491.4(FOXP2):c.1614del (p.Phe538fs)
|
rs2129341028
|
|
NM_014491.4(FOXP2):c.1658G>A (p.Arg553His)
|
rs121908377
|
|
NM_014491.4(FOXP2):c.1690C>T (p.Arg564Ter)
|
rs2129341954
|
|
NM_014491.4(FOXP2):c.483ACAACAGCAGCA[3] (p.Gln188_Gln191dup)
|
rs761316361
|
|
NM_014491.4(FOXP2):c.982C>T (p.Arg328Ter)
|
rs121908378
|
|
NM_014694.4(ADAMTSL2):c.2431G>A (p.Gly811Arg)
|
rs113994124
|
|
NM_014694.4(ADAMTSL2):c.2586G>A (p.Trp862Ter)
|
rs113994125
|
|
NM_014694.4(ADAMTSL2):c.338G>A (p.Arg113His)
|
rs113994122
|
|
NM_014694.4(ADAMTSL2):c.440C>T (p.Pro147Leu)
|
rs113994121
|
|
NM_014727.3(KMT2B):c.4622C>T (p.Ala1541Val)
|
rs1568377293
|
|
NM_014846.4(WASHC5):c.1411A>G (p.Asn471Asp)
|
rs80338865
|
|
NM_014846.4(WASHC5):c.1857G>T (p.Leu619Phe)
|
rs80338866
|
|
NM_014846.4(WASHC5):c.1876G>T (p.Val626Phe)
|
rs80338867
|
|
NM_014846.4(WASHC5):c.2087G>C (p.Gly696Ala)
|
rs397515564
|
|
NM_014846.4(WASHC5):c.3335+2T>A
|
rs398123007
|
|
NM_015046.7(SETX):c.193G>A (p.Glu65Lys)
|
rs1554825315
|
|
NM_015100.4(POGZ):c.3001C>T (p.Arg1001Ter)
|
rs869312833
|
|
NM_015100.4(POGZ):c.3041del (p.Gln1014fs)
|
rs796052217
|
|
NM_015100.4(POGZ):c.3456_3457del (p.Glu1154fs)
|
rs869320764
|
|
NM_015100.4(POGZ):c.3936del (p.Ile1312fs)
|
rs2102141341
|
|
NM_015102.5(NPHP4):c.2335C>T (p.Gln779Ter)
|
rs137852922
|
|
NM_015166.4(MLC1):c.135dup (p.Cys46fs)
|
rs80358241
|
|
NM_015166.4(MLC1):c.176G>A (p.Gly59Glu)
|
rs80358242
|
|
NM_015166.4(MLC1):c.298_423+108del
|
rs1555967644
|
|
NM_015166.4(MLC1):c.824C>A (p.Ala275Asp)
|
rs764669598
|
|
NM_015166.4(MLC1):c.908_918delinsGCA (p.Val303fs)
|
rs2146772952
|
|
NM_015340.4(LARS2):c.1077del (p.Ile360fs)
|
rs398123037
|
|
NM_015340.4(LARS2):c.351G>C (p.Met117Ile)
|
|
|
NM_015359.6(SLC39A14):c.477_478del (p.Ser160fs)
|
rs879253765
|
|
NM_015359.6(SLC39A14):c.512G>A (p.Gly171Glu)
|
rs1554519303
|
|
NM_015386.3(COG4):c.1546G>A (p.Gly516Arg)
|
rs1555575860
|
|
NM_015386.3(COG4):c.1546G>C (p.Gly516Arg)
|
rs1555575860
|
|
NM_015443.4(KANSL1):c.1652+1G>A
|
rs281865470
|
|
NM_015443.4(KANSL1):c.1816C>T (p.Arg606Ter)
|
rs281865469
|
|
NM_015443.4(KANSL1):c.1867_1870del (p.Ile623fs)
|
rs281865472
|
|
NM_015443.4(KANSL1):c.2785_2786del (p.Arg929fs)
|
rs281865471
|
|
NM_015443.4(KANSL1):c.916C>T (p.Gln306Ter)
|
rs281865468
|
|
NM_015443.4(KANSL1):c.985_986del (p.Leu329fs)
|
rs281865473
|
|
NM_015450.3(POT1):c.1227A>G (p.Pro409=)
|
rs552835784
|
|
NM_015450.3(POT1):c.349C>T (p.Arg117Cys)
|
rs780936436
|
|
NM_015450.3(POT1):c.809G>A (p.Ser270Asn)
|
rs587777477
|
|
NM_015474.3(SAMHD1):c.-6085_209-1941del
|
|
|
NM_015474.4(SAMHD1):c.1106T>C (p.Leu369Ser)
|
rs515726139
|
|
NM_015474.4(SAMHD1):c.1153A>G (p.Met385Val)
|
rs515726140
|
|
NM_015474.4(SAMHD1):c.1324C>T (p.Arg442Ter)
|
rs369587937
|
|
NM_015474.4(SAMHD1):c.1503+1G>T
|
rs515726142
|
|
NM_015474.4(SAMHD1):c.1609-1G>C
|
rs515726143
|
|
NM_015474.4(SAMHD1):c.359_370del (p.Asp120_His123del)
|
rs515726144
|
|
NM_015474.4(SAMHD1):c.434G>A (p.Arg145Gln)
|
rs515726145
|
|
NM_015474.4(SAMHD1):c.445C>T (p.Gln149Ter)
|
rs121434518
|
|
NM_015474.4(SAMHD1):c.760A>G (p.Met254Val)
|
rs121434521
|
|
NM_015488.5(PNKD):c.20C>T (p.Ala7Val)
|
rs121434512
|
|
NM_015488.5(PNKD):c.26C>T (p.Ala9Val)
|
rs121434511
|
|
NM_015506.3(MMACHC):c.347T>C (p.Leu116Pro)
|
rs121918240
|
|
NM_015702.3(MMADHC):c.133dup (p.Ala45fs)
|
rs864309740
|
|
NM_015702.3(MMADHC):c.160C>T (p.Arg54Ter)
|
rs118204047
|
|
NM_015702.3(MMADHC):c.228dup (p.Asn77fs)
|
rs864309741
|
|
NM_015702.3(MMADHC):c.307_324dup (p.Leu103_Ser108dup)
|
rs397509362
|
|
NM_015702.3(MMADHC):c.455dup (p.Cys153fs)
|
rs864309743
|
|
NM_015702.3(MMADHC):c.57_64del (p.Cys19_Ser20insTer)
|
rs397509361
|
|
NM_015702.3(MMADHC):c.60_61insAT (p.Leu21fs)
|
rs864309742
|
|
NM_015713.5(RRM2B):c.1046C>G (p.Ala349Gly)
|
rs515726202
|
|
NM_015713.5(RRM2B):c.121C>T (p.Arg41Trp)
|
rs515726181
|
|
NM_015713.5(RRM2B):c.122G>A (p.Arg41Gln)
|
rs200273673
|
|
NM_015713.5(RRM2B):c.122G>C (p.Arg41Pro)
|
rs200273673
|
|
NM_015713.5(RRM2B):c.190T>C (p.Trp64Arg)
|
rs515726182
|
|
NM_015713.5(RRM2B):c.208G>A (p.Asp70Asn)
|
rs515726183
|
|
NM_015713.5(RRM2B):c.368T>C (p.Phe123Ser)
|
rs515726187
|
|
NM_015713.5(RRM2B):c.580G>A (p.Glu194Lys)
|
rs121918308
|
|
NM_015713.5(RRM2B):c.581A>G (p.Glu194Gly)
|
rs515726191
|
|
NM_015713.5(RRM2B):c.583G>A (p.Gly195Arg)
|
rs515726192
|
|
NM_015713.5(RRM2B):c.584del (p.Gly195fs)
|
rs515726193
|
|
NM_015713.5(RRM2B):c.606T>A (p.Phe202Leu)
|
rs515726194
|
|
NM_015713.5(RRM2B):c.707G>T (p.Cys236Phe)
|
rs121918309
|
|
NM_015713.5(RRM2B):c.850C>T (p.Gln284Ter)
|
rs121918307
|
|
NM_015713.5(RRM2B):c.920del (p.Asn307fs)
|
rs515726197
|
|
NM_015713.5(RRM2B):c.949T>G (p.Leu317Val)
|
rs515726198
|
|
NM_015713.5(RRM2B):c.950del (p.Ser316_Leu317insTer)
|
rs515726199
|
|
NM_015713.5(RRM2B):c.952G>T (p.Glu318Ter)
|
rs515726200
|
|
NM_015713.5(RRM2B):c.965dup (p.Asn322fs)
|
rs515726201
|
|
NM_015713.5(RRM2B):c.979C>T (p.Arg327Ter)
|
rs121918310
|
|
NM_015915.5(ATL1):c.1222A>G (p.Met408Val)
|
rs28939094
|
|
NM_015915.5(ATL1):c.1243C>T (p.Arg415Trp)
|
rs119476050
|
|
NM_015915.5(ATL1):c.129C>G (p.Asp43Glu)
|
rs17850684
|
|
NM_015915.5(ATL1):c.1519dup (p.Ile507fs)
|
rs863223314
|
|
NM_015915.5(ATL1):c.467C>T (p.Thr156Ile)
|
rs137852657
|
|
NM_015915.5(ATL1):c.470T>G (p.Leu157Trp)
|
rs119476051
|
|
NM_015915.5(ATL1):c.578T>G (p.Phe193Cys)
|
rs17850683
|
|
NM_015915.5(ATL1):c.715C>T (p.Arg239Cys)
|
rs119476046
|
|
NM_015915.5(ATL1):c.773A>G (p.His258Arg)
|
rs119476048
|
|
NM_015922.3(NSDHL):c.1046A>G (p.Tyr349Cys)
|
rs137853863
|
|
NM_015922.3(NSDHL):c.1098dup (p.Arg367fs)
|
rs121909834
|
|
NM_015922.3(NSDHL):c.262C>T (p.Arg88Ter)
|
rs104894903
|
|
NM_015922.3(NSDHL):c.314C>T (p.Ala105Val)
|
rs104894909
|
|
NM_015922.3(NSDHL):c.455G>A (p.Gly152Asp)
|
|
|
NM_015922.3(NSDHL):c.613G>A (p.Gly205Ser)
|
rs104894901
|
|
NM_015922.3(NSDHL):c.693GAA[1] (p.Lys232del)
|
rs121909833
|
|
NM_015972.4(POLR1D):c.163C>G (p.Leu55Val)
|
rs587777841
|
|
NM_016035.5(COQ4):c.155T>C (p.Leu52Ser)
|
rs786204770
|
|
NM_016035.5(COQ4):c.433C>G (p.Arg145Gly)
|
rs774395996
|
|
NM_016035.5(COQ4):c.518CCA[1] (p.Thr174del)
|
rs786204771
|
|
NM_016038.4(SBDS):c.120del (p.Ser41fs)
|
rs113993990
|
|
NM_016038.4(SBDS):c.183_184delinsCT (p.Lys62Ter)
|
rs113993991
|
|
NM_016038.4(SBDS):c.297_300del (p.Glu99fs)
|
rs113993994
|
|
NM_016038.4(SBDS):c.624+1G>C
|
rs113993997
|
|
NM_016156.6(MTMR2):c.826G>T (p.Glu276Ter)
|
rs121434403
|
|
NM_016180.5(SLC45A2):c.208T>C (p.Tyr70His)
|
rs2112021025
|
|
NM_016180.5(SLC45A2):c.469G>A (p.Asp157Asn)
|
rs121912621
|
|
NM_016194.4(GNB5):c.1032C>A (p.Tyr344Ter)
|
rs749597091
|
|
NM_016194.4(GNB5):c.1032C>G (p.Tyr344Ter)
|
rs749597091
|
|
NM_016194.4(GNB5):c.262del (p.Glu88fs)
|
rs768022031
|
|
NM_016194.4(GNB5):c.348_352del (p.Asp116fs)
|
rs1085307675
|
|
NM_016194.4(GNB5):c.368C>G (p.Ser123Trp)
|
|
|
NM_016222.4(DDX41):c.1496dup (p.Ala500fs)
|
rs753425379
|
|
NM_016222.4(DDX41):c.1574G>A (p.Arg525His)
|
rs869312828
|
|
NM_016222.4(DDX41):c.19G>T (p.Glu7Ter)
|
rs749405703
|
|
NM_016222.4(DDX41):c.62_63del (p.Ser21fs)
|
rs756004929
|
|
NM_016628.5(WAC):c.1648C>T (p.Arg550Ter)
|
rs1554791943
|
|
NM_016628.5(WAC):c.1885_1886del (p.Leu629fs)
|
rs1554792658
|
|
NM_016938.5(EFEMP2):c.1070_1073dup (p.Asp359fs)
|
rs193302865
|
|
NM_016938.5(EFEMP2):c.1189G>A (p.Ala397Thr)
|
rs193302868
|
|
NM_016938.5(EFEMP2):c.169G>A (p.Glu57Lys)
|
rs119489101
|
|
NM_016938.5(EFEMP2):c.377A>T (p.Glu126Val)
|
rs193302869
|
|
NM_016938.5(EFEMP2):c.577del (p.Gln193fs)
|
rs193302870
|
|
NM_016938.5(EFEMP2):c.800G>A (p.Cys267Tyr)
|
rs193302866
|
|
NM_016938.5(EFEMP2):c.835C>T (p.Arg279Cys)
|
rs119489102
|
|
NM_017654.4(SAMD9):c.1376G>A (p.Arg459Gln)
|
rs1584254152
|
|
NM_017654.4(SAMD9):c.2920G>A (p.Glu974Lys)
|
rs1554336981
|
|
NM_017654.4(SAMD9):c.3878G>A (p.Arg1293Gln)
|
rs1791543423
|
|
NM_017671.4(FERMT1):c.0_-19+470del
|
|
|
NM_017671.4:c.676insC
|
|
|
NM_017671.5(FERMT1):c.-20A>G
|
rs869312722
|
|
NM_017671.5(FERMT1):c.1139+2T>C
|
rs869312727
|
|
NM_017671.5(FERMT1):c.1176T>G (p.Tyr392Ter)
|
rs869312730
|
|
NM_017671.5(FERMT1):c.1383C>A (p.Tyr461Ter)
|
rs142328166
|
|
NM_017671.5(FERMT1):c.456dup (p.Asp153fs)
|
rs2123144933
|
|
NM_017671.5(FERMT1):c.550dup (p.Ser184fs)
|
rs869312724
|
|
NM_017671.5(FERMT1):c.676C>T (p.Gln226Ter)
|
rs767540244
|
|
NM_017671.5(FERMT1):c.676dup (p.Gln226fs)
|
rs748240859
|
|
NM_017671.5(FERMT1):c.850-272_1139+53del
|
|
|
NM_017671.5(FERMT1):c.889A>G (p.Arg297Gly)
|
rs779612399
|
|
NM_017671.5(FERMT1):c.957+1G>A
|
rs869312725
|
|
NM_017671.5(FERMT1):c.994_995del (p.Gln332fs)
|
rs866141540
|
|
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)
|
rs754279998
|
|
NM_017802.4(DNAAF5):c.2384T>C (p.Leu795Pro)
|
rs397514561
|
|
NM_017838.4(NHP2):c.376G>A (p.Val126Met)
|
rs121908090
|
|
NM_017838.4(NHP2):c.415T>C (p.Tyr139His)
|
rs121908089
|
|
NM_017838.4(NHP2):c.460T>A (p.Ter154Arg)
|
rs121908091
|
|
NM_017841.4(SDHAF2):c.232G>A (p.Gly78Arg)
|
rs113560320
|
|
NM_017841.4(SDHAF2):c.232G>C (p.Gly78Arg)
|
|
|
NM_017882.3(CLN6):c.214G>T (p.Glu72Ter)
|
rs104894483
|
|
NM_017882.3(CLN6):c.316dup (p.Arg106fs)
|
rs397515352
|
|
NM_017946.4(FKBP14):c.143T>A (p.Met48Lys)
|
rs1583738267
|
|
NM_017946.4(FKBP14):c.362dup (p.Glu122fs)
|
rs542489955
|
|
NM_017946.4(FKBP14):c.570AGA[1] (p.Glu191del)
|
rs1430849353
|
|
NM_017950.4(CCDC40):c.2824_2825insTGT (p.Arg942delinsMetTrp)
|
rs587778819
|
|
NM_018076.5(ODAD2):c.2780T>G (p.Leu927Trp)
|
rs587777047
|
|
NM_018082.6(POLR3B):c.1101+1G>C
|
rs773891661
|
|
NM_018082.6(POLR3B):c.1112_1113del (p.Leu371fs)
|
rs2037451732
|
|
NM_018082.6(POLR3B):c.1325G>T (p.Arg442Leu)
|
rs201153027
|
|
NM_018082.6(POLR3B):c.1346T>C (p.Leu449Pro)
|
rs2137002042
|
|
NM_018082.6(POLR3B):c.1477G>T (p.Val493Phe)
|
rs1396040670
|
|
NM_018082.6(POLR3B):c.1508C>A (p.Thr503Lys)
|
rs267608683
|
|
NM_018082.6(POLR3B):c.1533del (p.Ile511fs)
|
rs267608684
|
|
NM_018082.6(POLR3B):c.1579T>C (p.Cys527Arg)
|
rs2137003969
|
|
NM_018082.6(POLR3B):c.1788C>A (p.Tyr596Ter)
|
rs2137008757
|
|
NM_018082.6(POLR3B):c.1939G>A (p.Glu647Lys)
|
rs755658678
|
|
NM_018082.6(POLR3B):c.2083+1G>A
|
rs7133068
|
|
NM_018082.6(POLR3B):c.2180T>C (p.Leu727Ser)
|
rs758867273
|
|
NM_018082.6(POLR3B):c.2190del (p.Phe730fs)
|
rs2137027936
|
|
NM_018082.6(POLR3B):c.2683G>A (p.Asp895Asn)
|
rs1428989000
|
|
NM_018082.6(POLR3B):c.2686A>T (p.Lys896Ter)
|
rs267608685
|
|
NM_018082.6(POLR3B):c.2707del (p.Gln903fs)
|
rs2137036995
|
|
NM_018082.6(POLR3B):c.2778C>G (p.Asp926Glu)
|
rs267608689
|
|
NM_018082.6(POLR3B):c.2918G>T (p.Cys973Phe)
|
rs2137076093
|
|
NM_018082.6(POLR3B):c.2920G>T (p.Glu974Ter)
|
rs2137076107
|
|
NM_018082.6(POLR3B):c.3005T>C (p.Ile1002Thr)
|
rs2038598006
|
|
NM_018082.6(POLR3B):c.303+1G>A
|
rs2036573956
|
|
NM_018082.6(POLR3B):c.3071C>T (p.Ala1024Val)
|
rs2137084674
|
|
NM_018082.6(POLR3B):c.312G>T (p.Leu104Phe)
|
rs2136887072
|
|
NM_018082.6(POLR3B):c.3349C>G (p.Leu1117Val)
|
rs2137097735
|
|
NM_018082.6(POLR3B):c.3352C>T (p.Gln1118Ter)
|
rs2137097739
|
|
NM_018082.6(POLR3B):c.79T>C (p.Trp27Arg)
|
rs2136879253
|
|
NM_018082.6(POLR3B):c.802A>G (p.Ser268Gly)
|
rs2136917152
|
|
NM_018082.6(POLR3B):c.832_833dup (p.Thr279fs)
|
rs1261509815
|
|
NM_018082.6(POLR3B):c.967-15A>G
|
rs764250049
|
|
NM_018122.5(DARS2):c.228-21_228-20delinsC
|
rs1553201258
|
|
NM_018136.5(ASPM):c.1002del (p.Leu334_Val335insTer)
|
rs199422136
|
|
NM_018136.5(ASPM):c.10059C>A (p.Tyr3353Ter)
|
rs199422201
|
|
NM_018136.5(ASPM):c.1154_1155del (p.Glu385fs)
|
rs199422137
|
|
NM_018136.5(ASPM):c.1179del (p.Asn394fs)
|
rs199422138
|
|
NM_018136.5(ASPM):c.1260_1266del (p.Gln421fs)
|
rs199422139
|
|
NM_018136.5(ASPM):c.1366G>T (p.Glu456Ter)
|
rs199422141
|
|
NM_018136.5(ASPM):c.1406_1413del (p.Asn469fs)
|
rs199422142
|
|
NM_018136.5(ASPM):c.1590del (p.Lys530_Val531insTer)
|
rs199422143
|
|
NM_018136.5(ASPM):c.1631_1635del (p.Tyr544fs)
|
rs199422144
|
|
NM_018136.5(ASPM):c.1729_1730del (p.Ser577fs)
|
rs199422146
|
|
NM_018136.5(ASPM):c.1959_1962del (p.Asn653fs)
|
rs199422147
|
|
NM_018136.5(ASPM):c.1990C>T (p.Gln664Ter)
|
rs199422148
|
|
NM_018136.5(ASPM):c.2389C>T (p.Arg797Ter)
|
rs145489194
|
|
NM_018136.5(ASPM):c.2606C>T (p.Thr869Ile)
|
rs7551108
|
|
NM_018136.5(ASPM):c.2761-25A>G
|
rs199422149
|
|
NM_018136.5(ASPM):c.2779T>C (p.Leu927=)
|
rs199422129
|
|
NM_018136.5(ASPM):c.2936+5G>T
|
rs199422150
|
|
NM_018136.5(ASPM):c.2938C>T (p.Arg980Ter)
|
rs199422151
|
|
NM_018136.5(ASPM):c.2967G>A (p.Trp989Ter)
|
rs199422152
|
|
NM_018136.5(ASPM):c.3055C>T (p.Arg1019Ter)
|
rs199422153
|
|
NM_018136.5(ASPM):c.3082G>A (p.Gly1028Arg)
|
rs199422154
|
|
NM_018136.5(ASPM):c.3188T>G (p.Leu1063Ter)
|
rs199422155
|
|
NM_018136.5(ASPM):c.3477_3481del (p.Ala1160fs)
|
rs199422156
|
|
NM_018136.5(ASPM):c.3527C>G (p.Ser1176Ter)
|
rs199422157
|
|
NM_018136.5(ASPM):c.3663del (p.Arg1221fs)
|
rs199422158
|
|
NM_018136.5(ASPM):c.3710C>G (p.Ser1237Ter)
|
rs199422159
|
|
NM_018136.5(ASPM):c.3741+1G>A
|
rs199422160
|
|
NM_018136.5(ASPM):c.3978G>A (p.Trp1326Ter)
|
rs137852995
|
|
NM_018136.5(ASPM):c.4074G>A (p.Trp1358Ter)
|
rs199422162
|
|
NM_018136.5(ASPM):c.4195dup (p.Thr1399fs)
|
rs199422163
|
|
NM_018136.5(ASPM):c.440del (p.Lys147fs)
|
rs199422133
|
|
NM_018136.5(ASPM):c.4583del (p.Lys1528fs)
|
rs199422164
|
|
NM_018136.5(ASPM):c.4795C>T (p.Arg1599Ter)
|
rs199422165
|
|
NM_018136.5(ASPM):c.4858_4859del (p.Ile1620fs)
|
rs199422166
|
|
NM_018136.5(ASPM):c.5149del (p.Lys1716_Ile1717insTer)
|
rs199422167
|
|
NM_018136.5(ASPM):c.577C>T (p.Gln193Ter)
|
rs199422134
|
|
NM_018136.5(ASPM):c.6189T>G (p.Tyr2063Ter)
|
rs137852997
|
|
NM_018136.5(ASPM):c.6337_6338del (p.Ile2113fs)
|
rs199422169
|
|
NM_018136.5(ASPM):c.6651_6654del (p.Thr2218fs)
|
rs199422170
|
|
NM_018136.5(ASPM):c.6732del (p.Tyr2245fs)
|
rs199422171
|
|
NM_018136.5(ASPM):c.719_720del (p.Ser240fs)
|
rs199422135
|
|
NM_018136.5(ASPM):c.7461T>A (p.Ile2487=)
|
rs199422130
|
|
NM_018136.5(ASPM):c.7491_7495del (p.Thr2499fs)
|
rs199422172
|
|
NM_018136.5(ASPM):c.7674C>T (p.Ile2558=)
|
rs41308365
|
|
NM_018136.5(ASPM):c.7761T>G (p.Tyr2587Ter)
|
rs189678019
|
|
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs)
|
rs199422173
|
|
NM_018136.5(ASPM):c.77del (p.Gly26fs)
|
rs199422131
|
|
NM_018136.5(ASPM):c.7860_7861del (p.Gln2620fs)
|
rs199422174
|
|
NM_018136.5(ASPM):c.7894C>T (p.Gln2632Ter)
|
rs199422175
|
|
NM_018136.5(ASPM):c.8131_8132del (p.Lys2711fs)
|
rs199422176
|
|
NM_018136.5(ASPM):c.8191_8192del (p.Glu2731fs)
|
rs199422177
|
|
NM_018136.5(ASPM):c.8273T>A (p.Leu2758Ter)
|
rs199422178
|
|
NM_018136.5(ASPM):c.8378del (p.Met2793fs)
|
rs199422179
|
|
NM_018136.5(ASPM):c.848C>T (p.Ser283Phe)
|
rs199422128
|
|
NM_018136.5(ASPM):c.8508_8509del (p.Lys2837fs)
|
rs199422180
|
|
NM_018136.5(ASPM):c.8844del (p.Lys2949fs)
|
rs199422182
|
|
NM_018136.5(ASPM):c.9115_9118dup (p.Tyr3040fs)
|
rs199422183
|
|
NM_018136.5(ASPM):c.9159del (p.Lys3053fs)
|
rs199422184
|
|
NM_018136.5(ASPM):c.9319C>T (p.Arg3107Ter)
|
rs199422187
|
|
NM_018136.5(ASPM):c.9395T>G (p.Leu3132Arg)
|
rs36004306
|
|
NM_018136.5(ASPM):c.9492T>G (p.Tyr3164Ter)
|
rs143931757
|
|
NM_018136.5(ASPM):c.9507del (p.Ile3170fs)
|
rs199422188
|
|
NM_018136.5(ASPM):c.9557C>G (p.Ser3186Ter)
|
rs199422189
|
|
NM_018136.5(ASPM):c.9595A>T (p.Lys3199Ter)
|
rs199422190
|
|
NM_018136.5(ASPM):c.9677dup (p.Cys3226fs)
|
rs199422191
|
|
NM_018136.5(ASPM):c.9685del (p.Ile3229fs)
|
rs199422192
|
|
NM_018136.5(ASPM):c.9686_9690del (p.Ile3229fs)
|
rs199422193
|
|
NM_018136.5(ASPM):c.9747_9748del (p.Tyr3250fs)
|
rs199422196
|
|
NM_018136.5(ASPM):c.9754del (p.Arg3252fs)
|
rs199422197
|
|
NM_018136.5(ASPM):c.9789T>A (p.Tyr3263Ter)
|
rs199422198
|
|
NM_018136.5(ASPM):c.9841A>T (p.Arg3281Ter)
|
rs199422199
|
|
NM_018136.5(ASPM):c.9984+1G>T
|
rs199422200
|
|
NM_018139.3(DNAAF2):c.1199_1214dup (p.Gly406fs)
|
rs397515341
|
|
NM_018139.3(DNAAF2):c.23C>A (p.Ser8Ter)
|
rs137853191
|
|
NM_018139.3(DNAAF2):c.31del (p.Glu11fs)
|
rs797045146
|
|
NM_018206.6(VPS35):c.1796A>G (p.His599Arg)
|
rs1434487321
|
|
NM_018206.6(VPS35):c.1819A>G (p.Met607Val)
|
rs1555523076
|
|
NM_018206.6(VPS35):c.1858G>A (p.Asp620Asn)
|
rs188286943
|
|
NM_018206.6(VPS35):c.2359G>A (p.Glu787Lys)
|
rs777050595
|
|
NM_018206.6(VPS35):c.723T>G (p.Ile241Met)
|
rs192783364
|
|
NM_018249.6(CDK5RAP2):c.246T>A (p.Tyr82Ter)
|
rs199422126
|
|
NM_018249.6(CDK5RAP2):c.2599G>A (p.Gly867Arg)
|
rs10984919
|
|
NM_018249.6(CDK5RAP2):c.3134G>C (p.Arg1045Thr)
|
rs3780679
|
|
NM_018249.6(CDK5RAP2):c.3989A>T (p.Asn1330Ile)
|
rs7875294
|
|
NM_018249.6(CDK5RAP2):c.4005-15A>G
|
rs387906274
|
|
NM_018249.6(CDK5RAP2):c.409G>T (p.Ala137Ser)
|
rs41302645
|
|
NM_018249.6(CDK5RAP2):c.4547A>G (p.Glu1516Gly)
|
rs3210500
|
|
NM_018249.6(CDK5RAP2):c.546T>G (p.Phe182Leu)
|
rs13287599
|
|
NM_018249.6(CDK5RAP2):c.547G>C (p.Ala183Pro)
|
rs13287734
|
|
NM_018249.6(CDK5RAP2):c.569C>T (p.Ala190Val)
|
rs13287876
|
|
NM_018249.6(CDK5RAP2):c.91G>A (p.Asp31Asn)
|
rs58961732
|
|
NM_018297.4(NGLY1):c.622C>T (p.Gln208Ter)
|
rs200561967
|
|
NM_018418.5(SPATA7):c.1395del (p.Gln465fs)
|
rs386834243
|
|
NM_018418.5(SPATA7):c.960dup (p.Pro321fs)
|
rs386834241
|
|
NM_018451.5(CENPJ):c.18del (p.Ser7fs)
|
rs199422202
|
|
NM_018451.5(CENPJ):c.2678A>C (p.Gln893Pro)
|
rs41306029
|
|
NM_018451.5(CENPJ):c.3243_3246del (p.Ser1081fs)
|
rs199422203
|
|
NM_018451.5(CENPJ):c.3704A>T (p.Glu1235Val)
|
rs121434311
|
|
NM_018451.5(CENPJ):c.61A>G (p.Met21Val)
|
rs35498994
|
|
NM_018648.4(NOP10):c.100C>T (p.Arg34Trp)
|
rs121908092
|
|
NM_018713.3(SLC30A10):c.1006C>T (p.His336Tyr)
|
rs770740586
|
|
NM_018713.3(SLC30A10):c.1046T>C (p.Leu349Pro)
|
rs281860291
|
|
NM_018713.3(SLC30A10):c.1235del (p.Gln412fs)
|
rs281860292
|
|
NM_018713.3(SLC30A10):c.266T>C (p.Leu89Pro)
|
rs281860284
|
|
NM_018713.3(SLC30A10):c.292_402del (p.Val98_Phe134del)
|
rs1553313839
|
|
NM_018713.3(SLC30A10):c.314_322del (p.Ala105_Pro107del)
|
rs281860285
|
|
NM_018713.3(SLC30A10):c.460C>T (p.Gln154Ter)
|
rs1057519589
|
|
NM_018713.3(SLC30A10):c.492del (p.Gly165fs)
|
rs1057519590
|
|
NM_018713.3(SLC30A10):c.496_553del (p.Ala166fs)
|
rs1553313783
|
|
NM_018713.3(SLC30A10):c.500T>C (p.Phe167Ser)
|
rs281860286
|
|
NM_018713.3(SLC30A10):c.507del (p.Pro170fs)
|
rs281860287
|
|
NM_018713.3(SLC30A10):c.585del (p.Thr196fs)
|
rs281860288
|
|
NM_018713.3(SLC30A10):c.765_767del (p.Val256del)
|
rs281860289
|
|
NM_018713.3(SLC30A10):c.922C>T (p.Gln308Ter)
|
rs281860290
|
|
NM_018941.4(CLN8):c.70C>G (p.Arg24Gly)
|
rs104894064
|
|
NM_018965.4(TREM2):c.113A>G (p.Tyr38Cys)
|
rs797044603
|
|
NM_018965.4(TREM2):c.40+4_40+6del
|
rs386834142
|
|
NM_018972.4(GDAP1):c.368A>G (p.His123Arg)
|
rs397515442
|
|
NM_018972.4(GDAP1):c.469A>C (p.Thr157Pro)
|
rs104894079
|
|
NM_019014.6(POLR1B):c.2046T>A (p.Ser682Arg)
|
rs1684443250
|
|
NM_019014.6(POLR1B):c.3007C>A (p.Arg1003Ser)
|
rs1684813071
|
|
NM_019014.6(POLR1B):c.3007C>T (p.Arg1003Cys)
|
rs1684813071
|
|
NM_019032.6(ADAMTSL4):c.767_786del (p.Gln256fs)
|
rs199473693
|
|
NM_019066.5(MAGEL2):c.1996del (p.Gln666fs)
|
rs770374710
|
|
NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs)
|
rs770374710
|
|
NM_019098.5(CNGB3):c.1304C>T (p.Ser435Phe)
|
rs121918344
|
|
NM_020247.5(COQ8A):c.1081-1_1082dup
|
rs1057519344
|
|
NM_020247.5(COQ8A):c.1398+2T>C
|
rs606231138
|
|
NM_020247.5(COQ8A):c.1747ACC[1] (p.Thr584del)
|
rs387906299
|
|
NM_020247.5(COQ8A):c.1813dup (p.Glu605fs)
|
rs387906298
|
|
NM_020247.5(COQ8A):c.1844G>A (p.Gly615Asp)
|
rs752130338
|
|
NM_020247.5(COQ8A):c.1844dup (p.Ser616fs)
|
rs764847439
|
|
NM_020247.5(COQ8A):c.815G>A (p.Gly272Asp)
|
rs119468006
|
|
NM_020247.5(COQ8A):c.815G>T (p.Gly272Val)
|
rs119468006
|
|
NM_020312.4(COQ9):c.521+1del
|
rs786205897
|
|
NM_020347.4(LZTFL1):c.260T>C (p.Leu87Pro)
|
rs515726135
|
|
NM_020365.5(EIF2B3):c.1037T>C (p.Ile346Thr)
|
rs119474039
|
|
NM_020366.4(RPGRIP1):c.2480G>T (p.Arg827Leu)
|
rs28937883
|
|
NM_020435.3(GJC2):c.-167A>G
|
rs587776888
|
|
NM_020435.3(GJC2):c.-170A>G
|
rs587777496
|
|
NM_020436.5(SALL4):c.1790A>G (p.Lys597Arg)
|
rs2122962845
|
|
NM_020436.5(SALL4):c.2279C>T (p.Thr760Ile)
|
rs755503899
|
|
NM_020436.5(SALL4):c.2663A>G (p.His888Arg)
|
rs74315429
|
|
NM_020436.5(SALL4):c.2713C>T (p.Arg905Ter)
|
rs74315428
|
|
NM_020457.3(THAP11):c.240C>G (p.Phe80Leu)
|
rs188675529
|
|
NM_020533.3(MCOLN1):c.1219TTC[1] (p.Phe408del)
|
rs797044817
|
|
NM_020533.3(MCOLN1):c.1453_1463dup (p.Ser488fs)
|
rs797044823
|
|
NM_020533.3(MCOLN1):c.1615del (p.Ala539fs)
|
rs1555742780
|
|
NM_020533.3(MCOLN1):c.1704A>T (p.Gly568=)
|
rs751298168
|
|
NM_020533.3(MCOLN1):c.236_237ins[NC_012920.1:m.12435_12527] (p.Gln79delinsHisHisTyrValLysSerIleValAlaSerThrPheIleIleSerLeuPheProThrThrIlePheMetCysLeuAspGlnGluValIleIleSer)
|
|
|
NM_020549.5(CHAT):c.914T>C (p.Ile305Thr)
|
rs75466054
|
|
NM_020708.5(SLC12A5):c.1127C>T (p.Ser376Leu)
|
rs1568862550
|
|
NM_020708.5(SLC12A5):c.1208T>C (p.Leu403Pro)
|
rs863225304
|
|
NM_020708.5(SLC12A5):c.1243A>G (p.Met415Val)
|
rs368484023
|
|
NM_020708.5(SLC12A5):c.1583G>A (p.Gly528Asp)
|
rs863225305
|
|
NM_020708.5(SLC12A5):c.2239TCC[1] (p.Ser748del)
|
rs1568866916
|
|
NM_020708.5(SLC12A5):c.2570G>T (p.Arg857Leu)
|
rs750336750
|
|
NM_020708.5(SLC12A5):c.279+1G>C
|
rs1568858867
|
|
NM_020708.5(SLC12A5):c.572C>T (p.Ala191Val)
|
rs1568859798
|
|
NM_020708.5(SLC12A5):c.863T>A (p.Leu288His)
|
rs863225306
|
|
NM_020708.5(SLC12A5):c.953G>C (p.Trp318Ser)
|
rs1259210706
|
|
NM_020708.5(SLC12A5):c.967T>C (p.Ser323Pro)
|
rs1220094830
|
|
NM_020779.4(WDR35):c.1844A>G (p.Glu615Gly)
|
rs267607174
|
|
NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln)
|
rs397515407
|
|
NM_020822.3(KCNT1):c.2386T>C (p.Tyr796His)
|
rs397515406
|
|
NM_020822.3(KCNT1):c.2688G>A (p.Met896Ile)
|
rs797044544
|
|
NM_020919.2(ALS2):c.[1825_1826insCAGTG];[3529G>T]
|
|
|
NM_020919.2(ALS2):c.[3565delG];[3624+5G>C]
|
|
|
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.1619G>A (p.Gly540Glu)
|
rs386134178
|
|
NM_020919.4(ALS2):c.1999-2A>T
|
rs386134182
|
|
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_021083.4(XK):c.664C>G (p.Arg222Gly)
|
rs2146834483
|
|
NM_021083.4(XK):c.880T>C (p.Cys294Arg)
|
rs28933690
|
|
NM_021083.4(XK):c.979G>A (p.Glu327Lys)
|
rs2146834720
|
|
NM_021252.5(RAB18):c.274AGA[1] (p.Arg93del)
|
rs587776875
|
|
NM_021252.5(RAB18):c.619T>C (p.Ter207Gln)
|
rs387906833
|
|
NM_021252.5(RAB18):c.71T>A (p.Leu24Gln)
|
rs387906832
|
|
NM_021625.5(TRPV4):c.1024G>T (p.Val342Phe)
|
rs515726152
|
|
NM_021625.5(TRPV4):c.1219A>G (p.Lys407Glu)
|
rs515726153
|
|
NM_021625.5(TRPV4):c.1412_1414del (p.Phe471del)
|
rs515726154
|
|
NM_021625.5(TRPV4):c.1566_1568dup (p.Leu523dup)
|
rs515726155
|
|
NM_021625.5(TRPV4):c.1625C>A (p.Ser542Tyr)
|
rs387906902
|
|
NM_021625.5(TRPV4):c.1772A>G (p.Tyr591Cys)
|
rs515726157
|
|
NM_021625.5(TRPV4):c.1774T>C (p.Phe592Leu)
|
rs515726158
|
|
NM_021625.5(TRPV4):c.1781G>A (p.Arg594His)
|
rs77975504
|
|
NM_021625.5(TRPV4):c.1787T>C (p.Leu596Pro)
|
rs515726159
|
|
NM_021625.5(TRPV4):c.1798G>T (p.Gly600Trp)
|
rs515726160
|
|
NM_021625.5(TRPV4):c.1805A>G (p.Tyr602Cys)
|
rs267607150
|
|
NM_021625.5(TRPV4):c.1812C>G (p.Ile604Met)
|
rs515726161
|
|
NM_021625.5(TRPV4):c.1847G>A (p.Arg616Gln)
|
rs121912632
|
|
NM_021625.5(TRPV4):c.1851C>A (p.Phe617Leu)
|
rs515726162
|
|
NM_021625.5(TRPV4):c.1853T>C (p.Leu618Pro)
|
rs515726163
|
|
NM_021625.5(TRPV4):c.1858G>A (p.Val620Ile)
|
rs121912633
|
|
NM_021625.5(TRPV4):c.1875G>A (p.Met625Ile)
|
rs515726164
|
|
NM_021625.5(TRPV4):c.2125C>A (p.Leu709Met)
|
rs116571438
|
|
NM_021625.5(TRPV4):c.2146G>T (p.Ala716Ser)
|
rs121912635
|
|
NM_021625.5(TRPV4):c.2219C>T (p.Thr740Ile)
|
rs387906906
|
|
NM_021625.5(TRPV4):c.232G>T (p.Gly78Trp)
|
rs397514474
|
|
NM_021625.5(TRPV4):c.2330G>A (p.Cys777Tyr)
|
rs515726165
|
|
NM_021625.5(TRPV4):c.2389G>A (p.Glu797Lys)
|
rs267607149
|
|
NM_021625.5(TRPV4):c.2395C>T (p.Pro799Ser)
|
rs267607147
|
|
NM_021625.5(TRPV4):c.2396C>G (p.Pro799Arg)
|
rs121912637
|
|
NM_021625.5(TRPV4):c.2396C>T (p.Pro799Leu)
|
rs121912637
|
|
NM_021625.5(TRPV4):c.2396_2412del (p.Pro799fs)
|
rs515726166
|
|
NM_021625.5(TRPV4):c.266C>T (p.Thr89Ile)
|
rs397514473
|
|
NM_021625.5(TRPV4):c.547G>A (p.Glu183Lys)
|
rs387906324
|
|
NM_021625.5(TRPV4):c.557G>A (p.Arg186Gln)
|
rs397514494
|
|
NM_021625.5(TRPV4):c.590A>G (p.Lys197Arg)
|
rs387906903
|
|
NM_021625.5(TRPV4):c.597G>C (p.Leu199Phe)
|
rs515726167
|
|
NM_021625.5(TRPV4):c.652G>A (p.Glu218Lys)
|
rs515726168
|
|
NM_021625.5(TRPV4):c.694C>T (p.Arg232Cys)
|
rs387906904
|
|
NM_021625.5(TRPV4):c.717G>C (p.Gln239His)
|
rs515726169
|
|
NM_021625.5(TRPV4):c.806G>A (p.Arg269His)
|
rs267607144
|
|
NM_021625.5(TRPV4):c.809G>T (p.Gly270Val)
|
rs387907220
|
|
NM_021625.5(TRPV4):c.812G>C (p.Arg271Pro)
|
rs387907219
|
|
NM_021625.5(TRPV4):c.819C>G (p.Phe273Leu)
|
rs515726170
|
|
NM_021625.5(TRPV4):c.826A>G (p.Lys276Glu)
|
rs387906907
|
|
NM_021625.5(TRPV4):c.832G>A (p.Glu278Lys)
|
rs267607148
|
|
NM_021625.5(TRPV4):c.883A>G (p.Thr295Ala)
|
rs515726171
|
|
NM_021625.5(TRPV4):c.946C>T (p.Arg316Cys)
|
rs267607145
|
|
NM_021625.5(TRPV4):c.947G>A (p.Arg316His)
|
rs387906905
|
|
NM_021625.5(TRPV4):c.991A>T (p.Ile331Phe)
|
rs121912636
|
|
NM_021625.5(TRPV4):c.992T>C (p.Ile331Thr)
|
rs515726172
|
|
NM_021625.5(TRPV4):c.998A>G (p.Asp333Gly)
|
rs121912634
|
|
NM_021814.5(ELOVL5):c.214C>G (p.Leu72Val)
|
rs587777671
|
|
NM_021814.5(ELOVL5):c.689G>T (p.Gly230Val)
|
rs587777670
|
|
NM_021830.5(TWNK):c.1287C>T (p.Ala429=)
|
rs80356541
|
|
NM_021830.5(TWNK):c.793C>T (p.Arg265Cys)
|
rs764669712
|
|
NM_021830.5(TWNK):c.955A>G (p.Lys319Glu)
|
rs80356543
|
|
NM_021830.5(TWNK):c.968G>A (p.Arg323Gln)
|
|
|
NM_022081.6(HPS4):c.2089_2093dup (p.Lys699fs)
|
rs281865100
|
|
NM_022124.6(CDH23):c.193del (p.Leu65fs)
|
rs796051861
|
|
NM_022336.4(EDAR):c.803+1G>A
|
rs797044437
|
|
NM_023067.3(FOXL2):c.661GCN[15_24] (p.Ala221[(15_24)])
|
|
|
NM_023067.4(FOXL2):c.650C>T (p.Ser217Phe)
|
rs797044527
|
|
NM_023067.4(FOXL2):c.655C>T (p.Gln219Ter)
|
rs104893741
|
|
NM_023067.4(FOXL2):c.661_702= (p.Ala221_Ala234=)
|
|
|
NM_023067.4(FOXL2):c.804dup (p.Gly269fs)
|
rs797044528
|
|
NM_023067.4(FOXL2):c.841_857dup (p.Pro287fs)
|
rs797044529
|
|
NM_023067.4(FOXL2):c.843_859dup (p.Pro287fs)
|
rs672601359
|
|
NM_023067.4(FOXL2):c.843_865dup (p.His289fs)
|
rs797044530
|
|
NM_023067.4(FOXL2):c.854del (p.Pro285fs)
|
rs797044531
|
|
NM_023067.4(FOXL2):c.855_871del (p.Pro287fs)
|
rs797044532
|
|
NM_023067.4(FOXL2):c.855_871dup (p.His291fs)
|
rs797044532
|
|
NM_023110.3(FGFR1):c.1468G>C (p.Gly490Arg)
|
rs869025670
|
|
NM_023110.3(FGFR1):c.1638C>A (p.Asn546Lys)
|
rs779707422
|
|
NM_023110.3(FGFR1):c.1867G>T (p.Asp623Tyr)
|
rs398122946
|
|
NM_023110.3(FGFR1):c.1880G>C (p.Arg627Thr)
|
rs869025671
|
|
NM_023110.3(FGFR1):c.1884T>G (p.Asn628Lys)
|
rs869025672
|
|
NM_023110.3(FGFR1):c.1966A>G (p.Lys656Glu)
|
rs869320694
|
|
NM_023110.3(FGFR1):c.2174G>A (p.Cys725Tyr)
|
rs398122945
|
|
NM_023110.3(FGFR1):c.494T>C (p.Leu165Ser)
|
rs397515481
|
|
NM_023110.3(FGFR1):c.572T>C (p.Leu191Ser)
|
rs869025669
|
|
NM_024312.4(GNPTAB):c.118-?_203+?dup86
|
|
|
NM_024312.4(GNPTAB):c.1738TATA[3] (p.Ser581Ilefs)
|
rs34924076
|
|
NM_024312.4(GNPTAB):c.555_556ins296 (p.?)
|
|
|
NM_024312.4(GNPTAB):c.[2783A>G;2864C>T]]
|
|
|
NM_024312.4(GNPTAB):c.[3388_3389insC;3392C>T]
|
|
|
NM_024312.4(GNPTAB):c.[545T>A;614A>C]
|
|
|
NM_024312.4:c.750+3A>C
|
|
|
NM_024312.5(GNPTAB):c.1001G>T (p.Arg334Leu)
|
rs281864970
|
|
NM_024312.5(GNPTAB):c.118-2A>G
|
rs281865023
|
|
NM_024312.5(GNPTAB):c.1191_1194dup (p.Ser399fs)
|
rs281864971
|
|
NM_024312.5(GNPTAB):c.1206dup (p.Ile403fs)
|
rs281864972
|
|
NM_024312.5(GNPTAB):c.1208T>C (p.Ile403Thr)
|
rs281864973
|
|
NM_024312.5(GNPTAB):c.121del (p.Val41fs)
|
rs281864948
|
|
NM_024312.5(GNPTAB):c.1220A>C (p.Asp407Ala)
|
rs137852895
|
|
NM_024312.5(GNPTAB):c.1285-2A>G
|
rs281864974
|
|
NM_024312.5(GNPTAB):c.1325G>A (p.Cys442Tyr)
|
rs281864975
|
|
NM_024312.5(GNPTAB):c.1331dup (p.Ser445fs)
|
rs281864976
|
|
NM_024312.5(GNPTAB):c.136C>T (p.Arg46Ter)
|
rs78347057
|
|
NM_024312.5(GNPTAB):c.1381T>G (p.Cys461Gly)
|
rs281864977
|
|
NM_024312.5(GNPTAB):c.1385dup (p.Asp462fs)
|
rs281864978
|
|
NM_024312.5(GNPTAB):c.1399del (p.Asp467fs)
|
rs397507448
|
|
NM_024312.5(GNPTAB):c.1519C>T (p.Gln507Ter)
|
rs281864981
|
|
NM_024312.5(GNPTAB):c.1581del (p.Cys528fs)
|
rs36007394
|
|
NM_024312.5(GNPTAB):c.1625_1626insC (p.Glu542fs)
|
rs281865027
|
|
NM_024312.5(GNPTAB):c.163dup (p.Ser55fs)
|
rs281864949
|
|
NM_024312.5(GNPTAB):c.168T>A (p.Tyr56Ter)
|
rs281864950
|
|
NM_024312.5(GNPTAB):c.171del (p.Asp58fs)
|
rs281864951
|
|
NM_024312.5(GNPTAB):c.1759C>T (p.Arg587Ter)
|
rs281864982
|
|
NM_024312.5(GNPTAB):c.1959_1962del (p.Ser654fs)
|
rs281864983
|
|
NM_024312.5(GNPTAB):c.1965del (p.Pro655_Ile656insTer)
|
rs281864984
|
|
NM_024312.5(GNPTAB):c.1985C>G (p.Ala662Gly)
|
rs142172397
|
|
NM_024312.5(GNPTAB):c.1999G>T (p.Glu667Ter)
|
rs281864985
|
|
NM_024312.5(GNPTAB):c.1999_2000insT (p.Glu667fs)
|
rs281864986
|
|
NM_024312.5(GNPTAB):c.2053_2057del (p.Ser685fs)
|
rs34901902
|
|
NM_024312.5(GNPTAB):c.2089dup (p.Leu697fs)
|
rs281864987
|
|
NM_024312.5(GNPTAB):c.2188delinsAAA (p.Leu730fs)
|
rs34161232
|
|
NM_024312.5(GNPTAB):c.2189del (p.Leu730fs)
|
rs281864988
|
|
NM_024312.5(GNPTAB):c.2196G>T (p.Lys732Asn)
|
rs281864989
|
|
NM_024312.5(GNPTAB):c.2220_2221dup (p.Met741fs)
|
rs281864990
|
|
NM_024312.5(GNPTAB):c.2249dup (p.Asn750fs)
|
rs281864991
|
|
NM_024312.5(GNPTAB):c.2275_2276del (p.Thr758_Asn759insTer)
|
rs281864992
|
|
NM_024312.5(GNPTAB):c.229GTT[1] (p.Val78del)
|
rs281864952
|
|
NM_024312.5(GNPTAB):c.2422del (p.Leu808fs)
|
rs281864993
|
|
NM_024312.5(GNPTAB):c.2427del (p.Leu810fs)
|
rs281864994
|
|
NM_024312.5(GNPTAB):c.242G>T (p.Trp81Leu)
|
rs281864953
|
|
NM_024312.5(GNPTAB):c.2533C>T (p.Gln845Ter)
|
rs281865028
|
|
NM_024312.5(GNPTAB):c.2544del (p.Glu849fs)
|
rs281864995
|
|
NM_024312.5(GNPTAB):c.2550_2554del (p.Lys850fs)
|
rs281864996
|
|
NM_024312.5(GNPTAB):c.2574_2575del (p.Asn859fs)
|
rs281865029
|
|
NM_024312.5(GNPTAB):c.2591_2592insG (p.Asn865fs)
|
rs281864997
|
|
NM_024312.5(GNPTAB):c.2659dup (p.Ser887fs)
|
rs281865030
|
|
NM_024312.5(GNPTAB):c.2664C>G (p.Tyr888Ter)
|
rs281864998
|
|
NM_024312.5(GNPTAB):c.2681G>A (p.Trp894Ter)
|
rs137852899
|
|
NM_024312.5(GNPTAB):c.2693del (p.Lys898fs)
|
rs281864999
|
|
NM_024312.5(GNPTAB):c.2693dup (p.Tyr899fs)
|
rs281864999
|
|
NM_024312.5(GNPTAB):c.2777A>C (p.Gln926Pro)
|
rs281865002
|
|
NM_024312.5(GNPTAB):c.2866C>T (p.His956Tyr)
|
rs281865004
|
|
NM_024312.5(GNPTAB):c.2867A>G (p.His956Arg)
|
rs281865005
|
|
NM_024312.5(GNPTAB):c.2918dup (p.Pro974_Glu975insTer)
|
rs281865032
|
|
NM_024312.5(GNPTAB):c.3002T>C (p.Leu1001Pro)
|
rs281865006
|
|
NM_024312.5(GNPTAB):c.3053A>G (p.Asp1018Gly)
|
rs281865007
|
|
NM_024312.5(GNPTAB):c.3061C>T (p.Gln1021Ter)
|
rs281865008
|
|
NM_024312.5(GNPTAB):c.3145_3146insC (p.Gly1049fs)
|
rs281865033
|
|
NM_024312.5(GNPTAB):c.3160C>G (p.Leu1054Val)
|
rs281865010
|
|
NM_024312.5(GNPTAB):c.3173C>G (p.Ser1058Ter)
|
rs137852898
|
|
NM_024312.5(GNPTAB):c.3231_3234dup (p.Tyr1079fs)
|
rs34256381
|
|
NM_024312.5(GNPTAB):c.3232del (p.Tyr1078fs)
|
rs281865011
|
|
NM_024312.5(GNPTAB):c.3249+1G>A
|
rs281865012
|
|
NM_024312.5(GNPTAB):c.3249+1G>C
|
rs281865012
|
|
NM_024312.5(GNPTAB):c.3252del (p.Pro1085fs)
|
rs281865035
|
|
NM_024312.5(GNPTAB):c.3310del (p.Ala1104fs)
|
rs281865013
|
|
NM_024312.5(GNPTAB):c.3330dup (p.Tyr1111fs)
|
rs281865014
|
|
NM_024312.5(GNPTAB):c.3336-1G>C
|
rs397507562
|
|
NM_024312.5(GNPTAB):c.3428dup (p.Asn1143fs)
|
rs281865017
|
|
NM_024312.5(GNPTAB):c.3434+1G>A
|
rs281865036
|
|
NM_024312.5(GNPTAB):c.3435-1G>A
|
rs281865037
|
|
NM_024312.5(GNPTAB):c.3443_3446del (p.Val1148fs)
|
rs281865018
|
|
NM_024312.5(GNPTAB):c.344_345del (p.Thr115fs)
|
rs281864954
|
|
NM_024312.5(GNPTAB):c.3458A>G (p.Asn1153Ser)
|
rs281865019
|
|
NM_024312.5(GNPTAB):c.3474_3475del (p.His1158fs)
|
rs281865038
|
|
NM_024312.5(GNPTAB):c.3487_3490del (p.Gln1162_Thr1163insTer)
|
rs281865020
|
|
NM_024312.5(GNPTAB):c.3503_3504del (p.Leu1168fs)
|
rs34002892
|
|
NM_024312.5(GNPTAB):c.3523_3529del (p.Met1175fs)
|
rs281865021
|
|
NM_024312.5(GNPTAB):c.3569dup (p.Asn1190fs)
|
rs281865039
|
|
NM_024312.5(GNPTAB):c.3613C>T (p.Arg1205Ter)
|
rs35333334
|
|
NM_024312.5(GNPTAB):c.3741_3744del (p.Glu1248fs)
|
rs281865022
|
|
NM_024312.5(GNPTAB):c.441del (p.Asn148fs)
|
rs281864955
|
|
NM_024312.5(GNPTAB):c.517_518insA (p.Pro173fs)
|
rs281864957
|
|
NM_024312.5(GNPTAB):c.569A>T (p.Asp190Val)
|
rs34946266
|
|
NM_024312.5(GNPTAB):c.571+3A>C
|
rs281864960
|
|
NM_024312.5(GNPTAB):c.616_619del (p.Thr206fs)
|
rs281865024
|
|
NM_024312.5(GNPTAB):c.625_629del (p.Arg209fs)
|
rs281864961
|
|
NM_024312.5(GNPTAB):c.637-1G>A
|
rs281864962
|
|
NM_024312.5(GNPTAB):c.648_651del (p.Glu217fs)
|
rs281864963
|
|
NM_024312.5(GNPTAB):c.749dup (p.Asn250fs)
|
rs281864964
|
|
NM_024312.5(GNPTAB):c.755_759del (p.Leu251_Ser252insTer)
|
rs281864965
|
|
NM_024312.5(GNPTAB):c.850del (p.Thr284fs)
|
rs34517004
|
|
NM_024312.5(GNPTAB):c.857dup (p.Asn287fs)
|
rs281864966
|
|
NM_024312.5(GNPTAB):c.914dup (p.Asp305fs)
|
rs281864967
|
|
NM_024312.5(GNPTAB):c.940C>T (p.Gln314Ter)
|
rs281864968
|
|
NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu)
|
rs63750743
|
|
NM_024339.5(THOC6):c.[298T>A;700G>C824G>A]
|
|
|
NM_024426.6(WT1):c.1399C>T (p.Arg467Trp)
|
rs121907900
|
|
NM_024426.6(WT1):c.1447+4C>T
|
rs587776577
|
|
NM_024426.6(WT1):c.1447+5G>A
|
rs587776576
|
|
NM_024529.5(CDC73):c.131+1G>A
|
rs587776558
|
|
NM_024529.5(CDC73):c.1418-17C>G
|
rs11583414
|
|
NM_024529.5(CDC73):c.679_680insAG (p.Arg227fs)
|
rs80356649
|
|
NM_024529.5(CDC73):c.766_767del (p.Val256fs)
|
rs80356650
|
|
NM_024577.4(SH3TC2):c.1747_1748del (p.Arg583fs)
|
rs80338924
|
|
NM_024577.4(SH3TC2):c.2491_2492del (p.Leu832fs)
|
rs80338929
|
|
NM_024577.4(SH3TC2):c.28del (p.Glu10fs)
|
rs80338918
|
|
NM_024577.4(SH3TC2):c.3341del (p.Pro1114fs)
|
rs80338936
|
|
NM_024577.4(SH3TC2):c.3601C>T (p.Gln1201Ter)
|
rs80338937
|
|
NM_024577.4(SH3TC2):c.530-2A>G
|
rs80338920
|
|
NM_024596.5(MCPH1):c.427dup (p.Thr143fs)
|
rs199422125
|
|
NM_024598.4(USB1):c.176_177del (p.Gly59fs)
|
rs759761915
|
|
NM_024598.4(USB1):c.179del (p.Pro60fs)
|
rs786205051
|
|
NM_024598.4(USB1):c.232C>T (p.Arg78Ter)
|
rs374559185
|
|
NM_024598.4(USB1):c.258T>A (p.Tyr86Ter)
|
rs199820065
|
|
NM_024598.4(USB1):c.265+2T>G
|
rs1555497680
|
|
NM_024598.4(USB1):c.266-1G>A
|
rs1555498092
|
|
NM_024598.4(USB1):c.267T>A (p.Tyr89Ter)
|
rs771096742
|
|
NM_024598.4(USB1):c.334dup (p.Arg112fs)
|
rs1555498117
|
|
NM_024598.4(USB1):c.415C>T (p.Gln139Ter)
|
rs1555498129
|
|
NM_024598.4(USB1):c.450-2A>G
|
rs1555498396
|
|
NM_024598.4(USB1):c.489_492del (p.Asn163fs)
|
rs777667891
|
|
NM_024598.4(USB1):c.499del (p.Thr167fs)
|
rs1555498399
|
|
NM_024598.4(USB1):c.502A>G (p.Arg168Gly)
|
rs137853971
|
|
NM_024598.4(USB1):c.504-2A>C
|
rs137853970
|
|
NM_024598.4(USB1):c.518T>G (p.Leu173Arg)
|
rs1555498563
|
|
NM_024598.4(USB1):c.531del (p.His179fs)
|
rs1555498565
|
|
NM_024598.4(USB1):c.541C>T (p.Gln181Ter)
|
rs1555498573
|
|
NM_024598.4(USB1):c.609+1G>A
|
rs1555498581
|
|
NM_024598.4(USB1):c.623A>G (p.His208Arg)
|
rs1249059283
|
|
NM_024598.4(USB1):c.683_693+1del
|
rs137853972
|
|
NM_024598.4(USB1):c.693+1G>T
|
rs1292827495
|
|
NM_024649.5(BBS1):c.-3_37del (p.Met1fs)
|
rs113994178
|
|
NM_024649.5(BBS1):c.1340-2A>G
|
rs113994180
|
|
NM_024649.5(BBS1):c.831-3C>G
|
rs113994179
|
|
NM_024747.6(HPS6):c.1066_1067insG (p.Leu356fs)
|
rs281865111
|
|
NM_024757.5(EHMT1):c.1413_1425del (p.Pro473fs)
|
rs137852715
|
|
NM_024757.5(EHMT1):c.1533_1536del (p.Asp512fs)
|
rs137852716
|
|
NM_024757.5(EHMT1):c.1810C>T (p.Gln604Ter)
|
rs137852717
|
|
NM_024757.5(EHMT1):c.1858C>T (p.Arg620Ter)
|
rs137852718
|
|
NM_024757.5(EHMT1):c.2028dup (p.Pro677fs)
|
rs1554879411
|
|
NM_024757.5(EHMT1):c.2193-1G>C
|
rs137852720
|
|
NM_024757.5(EHMT1):c.2863_2864del (p.Val955fs)
|
rs137852721
|
|
NM_024757.5(EHMT1):c.2868-1G>A
|
rs137852722
|
|
NM_024757.5(EHMT1):c.2877_2880del (p.Ser960fs)
|
rs786205129
|
|
NM_024757.5(EHMT1):c.3180+1G>T
|
rs137852724
|
|
NM_024757.5(EHMT1):c.3181-80_3233del
|
rs1554896943
|
|
NM_024757.5(EHMT1):c.3218G>A (p.Cys1073Tyr)
|
rs137852726
|
|
NM_024757.5(EHMT1):c.3229C>T (p.Gln1077Ter)
|
rs137852725
|
|
NM_024757.5(EHMT1):c.3502C>T (p.Arg1168Ter)
|
rs121918301
|
|
NM_024757.5(EHMT1):c.3589C>T (p.Arg1197Trp)
|
rs137852727
|
|
NM_024757.5(EHMT1):c.871C>T (p.Arg291Ter)
|
rs137852714
|
|
NM_024876.4(COQ8B):c.1027C>T (p.Arg343Trp)
|
rs398122981
|
|
NM_024876.4(COQ8B):c.1199dup (p.His400fs)
|
rs398122982
|
|
NM_024876.4(COQ8B):c.1356_1362del (p.Gln452fs)
|
rs398122983
|
|
NM_024876.4(COQ8B):c.1430G>A (p.Arg477Gln)
|
rs1057519347
|
|
NM_024876.4(COQ8B):c.1447G>T (p.Glu483Ter)
|
rs398122980
|
|
NM_024876.4(COQ8B):c.645del (p.Phe215fs)
|
rs764587648
|
|
NM_024876.4(COQ8B):c.954_956dup (p.Thr319dup)
|
rs1057519346
|
|
NM_025000.4(DCAF17):c.436del (p.Ala147fs)
|
rs797045038
|
|
NM_025114.4(CEP290):c.5707A>T (p.Lys1903Ter)
|
rs878855334
|
|
NM_025132.4(WDR19):c.3307C>T (p.Arg1103Ter)
|
rs387906981
|
|
NM_025136.4(OPA3):c.143-1G>C
|
rs80356523
|
|
NM_025136.4(OPA3):c.277G>A (p.Gly93Ser)
|
rs80356524
|
|
NM_025136.4(OPA3):c.313C>G (p.Gln105Glu)
|
rs80356525
|
|
NM_025136.4(OPA3):c.322_339del (p.Gln108_Glu113del)
|
rs80356526
|
|
NM_025136.4(OPA3):c.415C>T (p.Gln139Ter)
|
rs28937899
|
|
NM_025137.3(SPG11):c.3145_3146insCA (p.Asp1049Alafs)
|
|
|
NM_025137.3(SPG11):c.5456_5457del (p.Glu1819Alafs)
|
rs312262764
|
|
NM_025137.3:c.5898+5493_6509-491del
|
|
|
NM_025137.3:c.5987_5990dupCTCT
|
|
|
NM_025137.3:c.6754+4insTG
|
|
|
NM_025137.4(SPG11):c.118C>T (p.Gln40Ter)
|
rs267607084
|
|
NM_025137.4(SPG11):c.1203del (p.Asp402fs)
|
rs312262722
|
|
NM_025137.4(SPG11):c.1235C>G (p.Ser412Ter)
|
rs312262723
|
|
NM_025137.4(SPG11):c.1282A>T (p.Lys428Ter)
|
rs312262724
|
|
NM_025137.4(SPG11):c.1471_1472del (p.Leu491fs)
|
rs312262727
|
|
NM_025137.4(SPG11):c.1549_1550del (p.Cys518fs)
|
rs312262729
|
|
NM_025137.4(SPG11):c.1551_1552del (p.Cys518fs)
|
rs312262730
|
|
NM_025137.4(SPG11):c.1668del (p.Phe556fs)
|
rs312262731
|
|
NM_025137.4(SPG11):c.1679C>G (p.Ser560Ter)
|
rs312262732
|
|
NM_025137.4(SPG11):c.1697_1711delinsTACTCCCA (p.Asp566fs)
|
rs312262733
|
|
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.1845_1846del (p.Ser616fs)
|
rs312262736
|
|
NM_025137.4(SPG11):c.2146C>T (p.Gln716Ter)
|
rs312262737
|
|
NM_025137.4(SPG11):c.2163dup (p.Ile722fs)
|
rs312262738
|
|
NM_025137.4(SPG11):c.2198T>G (p.Leu733Ter)
|
rs312262739
|
|
NM_025137.4(SPG11):c.2358_2359del (p.Arg788fs)
|
rs312262741
|
|
NM_025137.4(SPG11):c.2444+1G>C
|
rs312262743
|
|
NM_025137.4(SPG11):c.2444G>T (p.Arg815Met)
|
rs312262742
|
|
NM_025137.4(SPG11):c.2472_2473insT (p.Lys825Ter)
|
rs312262744
|
|
NM_025137.4(SPG11):c.2608A>G (p.Ile870Val)
|
rs312262745
|
|
NM_025137.4(SPG11):c.267G>A (p.Trp89Ter)
|
rs312262709
|
|
NM_025137.4(SPG11):c.268G>T (p.Glu90Ter)
|
rs312262710
|
|
NM_025137.4(SPG11):c.2697G>A (p.Trp899Ter)
|
rs312262746
|
|
NM_025137.4(SPG11):c.2716del (p.Gln906fs)
|
rs312262747
|
|
NM_025137.4(SPG11):c.2833A>G (p.Arg945Gly)
|
rs312262748
|
|
NM_025137.4(SPG11):c.2842dup (p.Val948fs)
|
rs312262750
|
|
NM_025137.4(SPG11):c.2849dup (p.Leu950fs)
|
rs1470463921
|
|
NM_025137.4(SPG11):c.3075dup (p.Glu1026fs)
|
rs312262752
|
|
NM_025137.4(SPG11):c.3291+1G>T
|
rs312262753
|
|
NM_025137.4(SPG11):c.349G>T (p.Glu117Ter)
|
rs312262711
|
|
NM_025137.4(SPG11):c.359del (p.Asn119_Leu120insTer)
|
rs312262712
|
|
NM_025137.4(SPG11):c.3602_3603del (p.Tyr1201fs)
|
rs312262754
|
|
NM_025137.4(SPG11):c.3719_3720del (p.Ile1240fs)
|
rs312262756
|
|
NM_025137.4(SPG11):c.3741dup (p.Pro1248fs)
|
rs312262757
|
|
NM_025137.4(SPG11):c.398del (p.Cys133fs)
|
rs312262713
|
|
NM_025137.4(SPG11):c.4046T>A (p.Phe1349Tyr)
|
rs312262758
|
|
NM_025137.4(SPG11):c.408_428del (p.Glu136_Ile142del)
|
rs312262714
|
|
NM_025137.4(SPG11):c.442+1G>C
|
rs312262715
|
|
NM_025137.4(SPG11):c.4462_4463del (p.Val1488fs)
|
rs587777921
|
|
NM_025137.4(SPG11):c.4668T>A (p.Tyr1556Ter)
|
rs312262761
|
|
NM_025137.4(SPG11):c.4846C>T (p.Gln1616Ter)
|
rs312262762
|
|
NM_025137.4(SPG11):c.5255del (p.Phe1752fs)
|
rs312262763
|
|
NM_025137.4(SPG11):c.529_533del (p.Ile177fs)
|
rs312262716
|
|
NM_025137.4(SPG11):c.5399_5402delinsTGGAGGAG (p.Gln1800fs)
|
rs312262765
|
|
NM_025137.4(SPG11):c.5410_5411del (p.Cys1804fs)
|
rs312262766
|
|
NM_025137.4(SPG11):c.5532_5533del (p.Lys1845fs)
|
rs312262768
|
|
NM_025137.4(SPG11):c.5703del (p.His1902fs)
|
rs312262769
|
|
NM_025137.4(SPG11):c.5769del (p.Ser1923fs)
|
rs312262770
|
|
NM_025137.4(SPG11):c.5798del (p.Ala1933fs)
|
rs312262771
|
|
NM_025137.4(SPG11):c.5867-3237_6478-451del
|
|
|
NM_025137.4(SPG11):c.5870C>G (p.Ser1957Ter)
|
rs312262772
|
|
NM_025137.4(SPG11):c.5970C>G (p.Tyr1990Ter)
|
rs312262773
|
|
NM_025137.4(SPG11):c.5977C>T (p.Gln1993Ter)
|
rs312262774
|
|
NM_025137.4(SPG11):c.5989_5992del (p.Leu1997fs)
|
rs312262776
|
|
NM_025137.4(SPG11):c.5992dup (p.Tyr1998fs)
|
rs312262777
|
|
NM_025137.4(SPG11):c.6091C>T (p.Arg2031Ter)
|
rs147713329
|
|
NM_025137.4(SPG11):c.6206-1G>C
|
rs312262778
|
|
NM_025137.4(SPG11):c.642del (p.Phe214fs)
|
rs312262717
|
|
NM_025137.4(SPG11):c.6451del (p.Ala2151fs)
|
rs312262779
|
|
NM_025137.4(SPG11):c.6477+4A>G
|
rs312262780
|
|
NM_025137.4(SPG11):c.654_655delinsG (p.Ser218fs)
|
rs312262718
|
|
NM_025137.4(SPG11):c.6737_6740del (p.Ile2246fs)
|
rs312262781
|
|
NM_025137.4(SPG11):c.6739_6742del (p.Glu2247fs)
|
rs312262782
|
|
NM_025137.4(SPG11):c.6790dup (p.Leu2264fs)
|
rs312262783
|
|
NM_025137.4(SPG11):c.6832_6833del (p.Ser2278fs)
|
rs312262784
|
|
NM_025137.4(SPG11):c.6898_6899del (p.Leu2300fs)
|
rs312262786
|
|
NM_025137.4(SPG11):c.7000-3_7000-2insAGG
|
rs312262787
|
|
NM_025137.4(SPG11):c.7023C>A (p.Tyr2341Ter)
|
rs80338869
|
|
NM_025137.4(SPG11):c.7029dup (p.Val2344fs)
|
rs312262788
|
|
NM_025137.4(SPG11):c.7085_7088dup (p.Tyr2363Ter)
|
rs312262789
|
|
NM_025137.4(SPG11):c.7101dup (p.Lys2368Ter)
|
rs312262790
|
|
NM_025137.4(SPG11):c.7151+4_7151+7del
|
rs312262791
|
|
NM_025137.4(SPG11):c.7158_7159insACAA (p.Gln2387fs)
|
rs312262792
|
|
NM_025137.4(SPG11):c.869+1G>A
|
rs312262721
|
|
NM_025237.3(SOST):c.220+1G>C
|
rs952785856
|
|
NM_025237.3(SOST):c.220+3A>T
|
rs2154590472
|
|
NM_025237.3(SOST):c.296dup (p.Val100fs)
|
rs1974122996
|
|
NM_025237.3(SOST):c.371G>A (p.Trp124Ter)
|
rs2154590429
|
|
NM_025237.3(SOST):c.372G>A (p.Trp124Ter)
|
rs104894644
|
|
NM_025237.3(SOST):c.376C>T (p.Arg126Ter)
|
rs104894645
|
|
NM_025237.3(SOST):c.444_445delinsAA (p.Cys148_Pro149delinsTer)
|
rs2154590427
|
|
NM_025237.3(SOST):c.499T>C (p.Cys167Arg)
|
rs2154590425
|
|
NM_025237.3(SOST):c.69C>T (p.Gly23=)
|
rs1461545319
|
|
NM_025237.3(SOST):c.79C>T (p.Gln27Ter)
|
rs2154590473
|
|
NM_025237.3(SOST):c.87dup (p.Lys30fs)
|
rs377648601
|
|
NM_030653.4(DDX11):c.2576T>G (p.Val859Gly)
|
rs1565941025
|
|
NM_030662.4(MAP2K2):c.170T>G (p.Phe57Cys)
|
rs121434497
|
|
NM_030662.4(MAP2K2):c.383C>A (p.Pro128Gln)
|
rs267607230
|
|
NM_030662.4(MAP2K2):c.401A>G (p.Tyr134Cys)
|
rs727504370
|
|
NM_030777.4(SLC2A10):c.1334del (p.Gly445fs)
|
rs587776600
|
|
NM_030777.4(SLC2A10):c.1411+1G>A
|
rs864309479
|
|
NM_030777.4(SLC2A10):c.1411+480_1547+299del
|
|
|
NM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg)
|
rs80358230
|
|
NM_030777.4(SLC2A10):c.417T>A (p.Tyr139Ter)
|
rs572620317
|
|
NM_030777.4(SLC2A10):c.425G>T (p.Gly142Val)
|
rs864309480
|
|
NM_030777.4(SLC2A10):c.510G>A (p.Trp170Ter)
|
rs80358229
|
|
NM_030777.4(SLC2A10):c.731_734del (p.Leu244fs)
|
rs864309481
|
|
NM_030777.4(SLC2A10):c.756C>A (p.Cys252Ter)
|
rs864309478
|
|
NM_030777.4(SLC2A10):c.961del (p.Val321fs)
|
rs587776599
|
|
NM_030940.4(ISCA1):c.259G>A (p.Glu87Lys)
|
rs776679653
|
|
NM_030940.4(ISCA1):c.29T>G (p.Val10Gly)
|
rs1587823007
|
|
NM_031263.4(HNRNPK):c.257G>A (p.Arg86His)
|
rs863223403
|
|
NM_031263.4(HNRNPK):c.464T>C (p.Leu155Pro)
|
rs1564063967
|
|
NM_031263.4(HNRNPK):c.998dup (p.Tyr333Ter)
|
rs1554698681
|
|
NM_031427.4(DNAL1):c.449A>G (p.Asn150Ser)
|
rs387907021
|
|
NM_031443.4(CCM2):c.30+5_30+6delinsTT
|
rs797044623
|
|
NM_031448.6(C19orf12):c.171_181del (p.Gly58fs)
|
rs515726204
|
|
NM_032119.4(ADGRV1):c.14119G>T (p.Asp4707Tyr)
|
rs1057519383
|
|
NM_032229.3(SLITRK6):c.890C>A (p.Ser297Ter)
|
rs587777070
|
|
NM_032383.5(HPS3):c.0_217+692del
|
|
|
NM_032387.5(WNK4):c.1679A>G (p.Glu560Gly)
|
rs193922734
|
|
NM_032387.5(WNK4):c.1682C>T (p.Pro561Leu)
|
rs193922735
|
|
NM_032387.5(WNK4):c.1684G>A (p.Glu562Lys)
|
rs137853093
|
|
NM_032387.5(WNK4):c.1690G>C (p.Asp564His)
|
rs193922736
|
|
NM_032387.5(WNK4):c.1691A>C (p.Asp564Ala)
|
rs137853094
|
|
NM_032387.5(WNK4):c.1693C>G (p.Gln565Glu)
|
rs137853092
|
|
NM_032387.5(WNK4):c.3505A>G (p.Lys1169Glu)
|
rs193922737
|
|
NM_032487.4(ACTRT3):c.831_*2687del2976
|
|
|
NM_032520.4(GNPTG):c.611delG
|
rs193302856
|
|
NM_032520.5(GNPTG):c.318-1G>C
|
rs193302847
|
|
NM_032520.5(GNPTG):c.333G>A (p.Trp111Ter)
|
rs137852884
|
|
NM_032520.5(GNPTG):c.344ACA[1] (p.Asn116del)
|
rs193302849
|
|
NM_032520.5(GNPTG):c.379_391del (p.Asp127fs)
|
rs193302850
|
|
NM_032520.5(GNPTG):c.445del (p.Ala149fs)
|
rs281864956
|
|
NM_032520.5(GNPTG):c.523dup (p.Leu175fs)
|
rs193302851
|
|
NM_032520.5(GNPTG):c.608_609insC (p.Gln203fs)
|
rs1555451988
|
|
NM_032520.5(GNPTG):c.609+28_610-16del
|
rs193302853
|
|
NM_032520.5(GNPTG):c.610-1G>T
|
rs193302854
|
|
NM_032520.5(GNPTG):c.619_620insT (p.Lys207fs)
|
rs193302857
|
|
NM_032520.5(GNPTG):c.639del (p.Phe213fs)
|
rs193302858
|
|
NM_032520.5(GNPTG):c.640_667del (p.Glu214fs)
|
rs193302859
|
|
NM_032575.3(GLIS2):c.523T>C (p.Cys175Arg)
|
rs587777353
|
|
NM_032575.3(GLIS2):c.775+1G>T
|
rs878855335
|
|
NM_032581.4(HYCC1):c.158T>C (p.Leu53Pro)
|
rs72549407
|
|
NM_032581.4(HYCC1):c.414+1G>T
|
rs72549406
|
|
NM_032581.4(HYCC1):c.627-439_831+348del
|
|
|
NM_033028.5(BBS4):c.-17C>A
|
rs56368716
|
|
NM_033028.5(BBS4):c.-6G>A
|
rs367543011
|
|
NM_033028.5(BBS4):c.157-2A>G
|
rs113994192
|
|
NM_033028.5(BBS4):c.220+1G>C
|
rs113994190
|
|
NM_033028.5(BBS4):c.28dup (p.Thr10fs)
|
rs113994184
|
|
NM_033028.5(BBS4):c.406-2A>C
|
rs113994191
|
|
NM_033028.5(BBS4):c.77-216del
|
rs113994189
|
|
NM_033028.5(BBS4):c.8A>C (p.Glu3Ala)
|
rs113994183
|
|
NM_033056.4(PCDH15):c.5598AAC[1] (p.Thr1869del)
|
rs113363047
|
|
NM_033380.3(COL4A5):c.4709G>C (p.Cys1570Ser)
|
rs104886287
|
|
NM_033380.3(COL4A5):c.4964T>G (p.Leu1655Arg)
|
rs104886303
|
|
NM_033409.4(SLC52A3):c.1198-2A>C
|
rs754753126
|
|
NM_033409.4(SLC52A3):c.1325_1326del (p.Leu442fs)
|
rs794728004
|
|
NM_033409.4(SLC52A3):c.173T>A (p.Val58Asp)
|
rs797045192
|
|
NM_033409.4(SLC52A3):c.211G>T (p.Glu71Ter)
|
rs267606683
|
|
NM_033409.4(SLC52A3):c.49T>C (p.Trp17Arg)
|
rs797045190
|
|
NM_033409.4(SLC52A3):c.568-16_568-15insCTGATTGAC
|
rs3833341
|
|
NM_033409.4(SLC52A3):c.639C>G (p.Tyr213Ter)
|
rs778363575
|
|
NM_033409.4(SLC52A3):c.659C>A (p.Pro220His)
|
rs797045194
|
|
NM_033409.4(SLC52A3):c.670T>C (p.Phe224Leu)
|
rs267606685
|
|
NM_033409.4(SLC52A3):c.82C>A (p.Pro28Thr)
|
rs267606688
|
|
NM_033409.4(SLC52A3):c.955C>T (p.Pro319Ser)
|
rs797045195
|
|
NM_033409.4(SLC52A3):c.986A>G (p.Tyr329Cys)
|
rs2122516296
|
|
NM_033409.4(SLC52A3):c.989G>T (p.Gly330Val)
|
rs797045196
|
|
NM_033629.6(TREX1):c.212_213dup (p.Ala72fs)
|
rs74689946
|
|
NM_033629.6(TREX1):c.365T>C (p.Val122Ala)
|
rs79993407
|
|
NM_033629.6(TREX1):c.366_368dup (p.Ala123dup)
|
rs77371662
|
|
NM_033629.6(TREX1):c.393_408dup (p.Glu137fs)
|
rs74876396
|
|
NM_033629.6(TREX1):c.397del (p.Leu133fs)
|
rs78762691
|
|
NM_033629.6(TREX1):c.52G>A (p.Asp18Asn)
|
rs121908117
|
|
NM_033629.6(TREX1):c.58dup (p.Glu20fs)
|
rs78300695
|
|
NM_033629.6(TREX1):c.598G>A (p.Asp200Asn)
|
rs78846775
|
|
NM_033629.6(TREX1):c.599_601dup (p.Asp200dup)
|
rs74556809
|
|
NM_033629.6(TREX1):c.602T>A (p.Val201Asp)
|
rs78408272
|
|
NM_033629.6(TREX1):c.609_662dup (p.Leu204_Ala221dup)
|
rs78379807
|
|
NM_033629.6(TREX1):c.625_628dup (p.Trp210fs)
|
rs78948846
|
|
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del)
|
rs79318303
|
|
NM_052845.4(MMAB):c.287T>C (p.Ile96Thr)
|
rs864309509
|
|
NM_052845.4(MMAB):c.569G>A (p.Arg190His)
|
rs756414548
|
|
NM_052989.3(IFT122):c.1505T>G (p.Val502Gly)
|
rs267607191
|
|
NM_052989.3(IFT122):c.21G>C (p.Trp7Cys)
|
rs267607193
|
|
NM_052989.3(IFT122):c.955del (p.Glu319fs)
|
rs397515567
|
|
NM_053054.4(CATSPER1):c.539dup (p.His182fs)
|
rs193929390
|
|
NM_053054.4(CATSPER1):c.944_948dup (p.Asp317fs)
|
rs193929391
|
|
NM_054012.4(ASS1):c.1085G>T (p.Gly362Val)
|
rs121908647
|
|
NM_054012.4(ASS1):c.421-2A>G
|
rs751930594
|
|
NM_054012.4(ASS1):c.794G>A (p.Arg265His)
|
rs398123131
|
|
NM_054021.2(GPR101):c.1098C>A (p.Asp366Glu)
|
rs1556379508
|
|
NM_054021.2(GPR101):c.924G>C (p.Glu308Asp)
|
rs73637412
|
|
NM_080424.4(SP110):c.319_325dup (p.Ser109fs)
|
rs397515569
|
|
NM_080424.4(SP110):c.373del (p.Thr125fs)
|
rs397515570
|
|
NM_080424.4(SP110):c.40del (p.Gln14fs)
|
rs397515362
|
|
NM_080424.4(SP110):c.642del (p.Ser215fs)
|
rs397515361
|
|
NM_080424.4(SP110):c.667+1dup
|
rs397515571
|
|
NM_080424.4(SP110):c.78_79delinsAT (p.Ile27Leu)
|
rs397515572
|
|
NM_080669.6(SLC46A1):c.1274C>G (p.Pro425Arg)
|
rs80338774
|
|
NM_080669.6(SLC46A1):c.194del (p.Gly65fs)
|
rs80338769
|
|
NM_080669.6(SLC46A1):c.337C>A (p.Arg113Ser)
|
rs80338770
|
|
NM_080669.6(SLC46A1):c.439G>C (p.Gly147Arg)
|
rs80338771
|
|
NM_080860.4(RSPH1):c.407_410del (p.Lys136fs)
|
rs587777059
|
|
NM_130837.3(OPA1):c.1148A>G (p.Lys383Arg)
|
rs398124303
|
|
NM_130837.3(OPA1):c.1230+1G>T
|
rs80356528
|
|
NM_130837.3(OPA1):c.1232_1233dup (p.Ala412fs)
|
rs863225275
|
|
NM_130837.3(OPA1):c.1367G>A (p.Gly456Asp)
|
rs863225276
|
|
NM_130837.3(OPA1):c.1475A>G (p.Gln492Arg)
|
rs863225277
|
|
NM_130837.3(OPA1):c.1499G>A (p.Arg500His)
|
rs80356529
|
|
NM_130837.3(OPA1):c.2873_2876del
|
rs80356530
|
|
NM_130837.3(OPA1):c.2991del (p.Arg998fs)
|
rs80356531
|
|
NM_130837.3(OPA1):c.893T>A (p.Leu298Ter)
|
rs863225274
|
|
NM_138387.4(G6PC3):c.935dup (p.Asn313fs)
|
rs797044567
|
|
NM_138413.4(HOGA1):c.938AGG[2] (p.Glu315del)
|
rs397509360
|
|
NM_138477.4(CDAN1):c.3124C>T (p.Arg1042Trp)
|
rs80338697
|
|
NM_138638.5(CFL2):c.103G>A (p.Ala35Thr)
|
rs80358250
|
|
NM_139276.3(STAT3):c.1144C>T (p.Arg382Trp)
|
rs113994135
|
|
NM_139276.3(STAT3):c.1145G>A (p.Arg382Gln)
|
rs113994136
|
|
NM_139276.3(STAT3):c.1384GTG[1] (p.Val463del)
|
rs113994138
|
|
NM_139276.3(STAT3):c.1909G>A (p.Val637Met)
|
rs113994139
|
|
NM_144997.7(FLCN):c.1285del (p.His429fs)
|
rs80338682
|
|
NM_144997.7(FLCN):c.1285dup (p.His429fs)
|
rs80338682
|
|
NM_144997.7(FLCN):c.610_611delinsTA (p.Ala204Ter)
|
rs398124538
|
|
NM_145045.5(ODAD3):c.1256C>A (p.Ser419Ter)
|
rs587777780
|
|
NM_145045.5(ODAD3):c.925G>T (p.Glu309Ter)
|
rs587777779
|
|
NM_145064.3(STAC3):c.432+4A>T
|
rs751033943
|
|
NM_145064.3(STAC3):c.763_766del (p.Leu255fs)
|
rs773050511
|
|
NM_145064.3(STAC3):c.997-1G>T
|
rs779483367
|
|
NM_145239.3(PRRT2):c.510dup (p.Leu171fs)
|
rs397515576
|
|
NM_145239.3(PRRT2):c.647C>G (p.Pro216Arg)
|
rs76335820
|
|
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
|
|
|
NM_145861.4(EDARADD):c.365T>G (p.Leu122Arg)
|
rs121908116
|
|
NM_145861.4(EDARADD):c.402_407del (p.Thr135_Val136del)
|
rs397515575
|
|
NM_145861.4(EDARADD):c.454G>A (p.Glu152Lys)
|
rs74315309
|
|
NM_152263.4(TPM3):c.11C>T (p.Ala4Val)
|
rs199474711
|
|
NM_152263.4(TPM3):c.26T>G (p.Met9Arg)
|
rs80358247
|
|
NM_152263.4(TPM3):c.272G>C (p.Arg91Pro)
|
rs199474713
|
|
NM_152263.4(TPM3):c.298C>A (p.Leu100Met)
|
rs121964853
|
|
NM_152263.4(TPM3):c.502C>G (p.Arg168Gly)
|
rs121964854
|
|
NM_152263.4(TPM3):c.502C>T (p.Arg168Cys)
|
rs121964854
|
|
NM_152263.4(TPM3):c.503G>A (p.Arg168His)
|
rs121964852
|
|
NM_152263.4(TPM3):c.505A>G (p.Lys169Glu)
|
rs199474715
|
|
NM_152263.4(TPM3):c.721G>A (p.Glu241Lys)
|
rs199474717
|
|
NM_152263.4(TPM3):c.733A>G (p.Arg245Gly)
|
rs199474718
|
|
NM_152263.4(TPM3):c.94C>T (p.Gln32Ter)
|
rs80358248
|
|
NM_152296.5(ATP1A3):c.1073G>A (p.Gly358Asp)
|
rs1555863693
|
|
NM_152296.5(ATP1A3):c.1073G>T (p.Gly358Val)
|
rs1555863693
|
|
NM_152296.5(ATP1A3):c.1088T>A (p.Ile363Asn)
|
rs2145972483
|
|
NM_152296.5(ATP1A3):c.1838C>T (p.Thr613Met)
|
|
|
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys)
|
rs1064797245
|
|
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His)
|
rs606231435
|
|
NM_152296.5(ATP1A3):c.2267G>T (p.Arg756Leu)
|
rs606231435
|
|
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
|
|
|
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys)
|
rs387907281
|
|
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys)
|
rs587777771
|
|
NM_152296.5(ATP1A3):c.2600G>A (p.Gly867Asp)
|
rs606231442
|
|
NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn)
|
rs267606670
|
|
NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg)
|
rs398122887
|
|
NM_152296.5(ATP1A3):c.2839G>C (p.Gly947Arg)
|
rs398122887
|
|
NM_152296.5(ATP1A3):c.2851G>A (p.Glu951Lys)
|
rs2145942372
|
|
NM_152296.5(ATP1A3):c.385G>A (p.Val129Met)
|
rs1555865401
|
|
NM_152296.5(ATP1A3):c.829G>A (p.Glu277Lys)
|
rs80356533
|
|
NM_152296.5(ATP1A3):c.946G>A (p.Gly316Ser)
|
rs869320661
|
|
NM_152419.3(HGSNAT):c.1616C>G (p.Ser539Cys)
|
rs1372286994
|
|
NM_152419.3(HGSNAT):c.518G>A (p.Gly173Asp)
|
rs370717845
|
|
NM_152419.3(HGSNAT):c.784G>A (p.Gly262Arg)
|
rs1803654249
|
|
NM_152443.3(RDH12):c.806_810del (p.Ala269fs)
|
rs386834261
|
|
NM_152564.5(VPS13B):c.3348_3349del (p.Cys1117fs)
|
rs180177327
|
|
NM_152564.5(VPS13B):c.8384T>C (p.Ile2795Thr)
|
rs120074155
|
|
NM_152564.5(VPS13B):c.9185dup (p.Leu3062fs)
|
rs180177329
|
|
NM_152703.5(SAMD9L):c.2640C>A (p.His880Gln)
|
rs878855336
|
|
NM_152703.5(SAMD9L):c.2672T>C (p.Ile891Thr)
|
rs1554341277
|
|
NM_152703.5(SAMD9L):c.2956C>T (p.Arg986Cys)
|
rs1554341158
|
|
NM_152703.5(SAMD9L):c.3587G>C (p.Cys1196Ser)
|
rs878855337
|
|
NM_152722.5(HEPACAM):c.265G>A (p.Gly89Ser)
|
rs387907053
|
|
NM_152722.5(HEPACAM):c.274C>T (p.Arg92Trp)
|
rs387907055
|
|
NM_152722.5(HEPACAM):c.275G>A (p.Arg92Gln)
|
rs387907050
|
|
NM_152722.5(HEPACAM):c.292C>T (p.Arg98Cys)
|
rs387907052
|
|
NM_153026.3(PRICKLE1):c.1414T>C (p.Tyr472His)
|
rs281865564
|
|
NM_153240.5(NPHP3):c.3821GAG[1] (p.Gly1275del)
|
rs119456959
|
|
NM_153676.4(USH1C):c.238dup (p.Arg80fs)
|
rs397515359
|
|
NM_153676.4(USH1C):c.496+21GCAGTACTCCATGACGGTGGGAGGGAGGGAGGGCGGGGGAGCAGG[9]
|
rs55983148
|
|
NM_170707.4(LMNA):c.1619T>C (p.Met540Thr)
|
rs267607547
|
|
NM_170707.4(LMNA):c.16C>T (p.Gln6Ter)
|
rs61046466
|
|
NM_170707.4(LMNA):c.1700_1968+1del
|
rs1553266460
|
|
NM_170707.4(LMNA):c.1771T>A (p.Cys591Ser)
|
rs797044486
|
|
NM_170707.4(LMNA):c.1821G>A (p.Val607=)
|
rs59886214
|
|
NM_170707.4(LMNA):c.1822G>A (p.Gly608Ser)
|
rs61064130
|
|
NM_170707.4(LMNA):c.1824C>T (p.Gly608=)
|
rs58596362
|
|
NM_170707.4(LMNA):c.1868C>G (p.Thr623Ser)
|
rs59267781
|
|
NM_170707.4(LMNA):c.1968+1G>A
|
rs113436208
|
|
NM_170707.4(LMNA):c.1968+1G>C
|
rs113436208
|
|
NM_170707.4(LMNA):c.1968+2T>A
|
rs113860699
|
|
NM_170707.4(LMNA):c.1968+2T>C
|
rs113860699
|
|
NM_170707.4(LMNA):c.1968+5G>A
|
rs797044488
|
|
NM_170707.4(LMNA):c.1968+5G>C
|
rs797044488
|
|
NM_170707.4(LMNA):c.1968G>A (p.Gln656=)
|
rs797044487
|
|
NM_170707.4(LMNA):c.433G>A (p.Glu145Lys)
|
rs60310264
|
|
NM_170707.4(LMNA):c.585C>G (p.Asn195Lys)
|
rs28933091
|
|
NM_170707.4(LMNA):c.607G>A (p.Glu203Lys)
|
rs61195471
|
|
NM_170707.4(LMNA):c.644T>C (p.Leu215Pro)
|
rs61295588
|
|
NM_170707.4(LMNA):c.664C>T (p.His222Tyr)
|
rs28928901
|
|
NM_170707.4(LMNA):c.667G>A (p.Glu223Lys)
|
rs797044485
|
|
NM_170707.4(LMNA):c.674G>A (p.Arg225Gln)
|
rs199474724
|
|
NM_170707.4(LMNA):c.960del (p.Arg321fs)
|
rs56771886
|
|
NM_170784.3(MKKS):c.431_441del (p.Phe144fs)
|
rs113994195
|
|
NM_170784.3(MKKS):c.873_876dup (p.Cys293fs)
|
rs113994196
|
|
NM_172107.2(KCNQ2):c.(?_-177)_690+?del
|
|
|
NM_172107.2(KCNQ2):c.1119-?_*382del
|
|
|
NM_172107.2(KCNQ2):c.1248-?_(*455_?)del
|
|
|
NM_172107.2(KCNQ2):c.1764-?_(*455_?)del
|
|
|
NM_172107.2(KCNQ2):c.297-?_1247+?del
|
|
|
NM_172107.2(KCNQ2):c.388-682_1118+?del
|
|
|
NM_172107.2(KCNQ2):c.388-?_1301+?del
|
|
|
NM_172107.2:c.(1228_1230)del12
|
|
|
NM_172107.2:c.1-?c.993+?del
|
|
|
NM_172107.4(KCNQ2):c.1010C>G (p.Ala337Gly)
|
rs796052643
|
|
NM_172107.4(KCNQ2):c.1016T>G (p.Leu339Arg)
|
rs118192217
|
|
NM_172107.4(KCNQ2):c.1024-2A>G
|
rs1057516104
|
|
NM_172107.4(KCNQ2):c.1030T>C (p.Trp344Arg)
|
rs1057516105
|
|
NM_172107.4(KCNQ2):c.1051C>G (p.Leu351Val)
|
rs1057516106
|
|
NM_172107.4(KCNQ2):c.1051C>T (p.Leu351Phe)
|
rs1057516106
|
|
NM_172107.4(KCNQ2):c.1053C>T (p.Leu351=)
|
rs1030017847
|
|
NM_172107.4(KCNQ2):c.1054T>C (p.Ser352Pro)
|
rs1057516108
|
|
NM_172107.4(KCNQ2):c.1057C>G (p.Arg353Gly)
|
rs118192218
|
|
NM_172107.4(KCNQ2):c.1058G>A (p.Arg353His)
|
rs796052645
|
|
NM_172107.4(KCNQ2):c.1066C>G (p.Leu356Val)
|
rs1057516109
|
|
NM_172107.4(KCNQ2):c.1073C>T (p.Ser358Phe)
|
rs1057516110
|
|
NM_172107.4(KCNQ2):c.1076C>A (p.Thr359Lys)
|
rs118192219
|
|
NM_172107.4(KCNQ2):c.1085A>G (p.Tyr362Cys)
|
rs1057516111
|
|
NM_172107.4(KCNQ2):c.1118+1G>A
|
rs397507449
|
|
NM_172107.4(KCNQ2):c.1118+3A>G
|
rs1057516112
|
|
NM_172107.4(KCNQ2):c.1126del (p.Thr376fs)
|
rs1057516113
|
|
NM_172107.4(KCNQ2):c.1148+2T>G
|
rs118192221
|
|
NM_172107.4(KCNQ2):c.1192_1193del (p.Lys398fs)
|
rs118192222
|
|
NM_172107.4(KCNQ2):c.1195_1196del (p.Lys398_Ser399insTer)
|
rs1057516114
|
|
NM_172107.4(KCNQ2):c.1217+2T>G
|
rs118192223
|
|
NM_172107.4(KCNQ2):c.1228CCG[1] (p.Pro411del)
|
rs1060499544
|
|
NM_172107.4(KCNQ2):c.1247+1G>A
|
rs1057516115
|
|
NM_172107.4(KCNQ2):c.1288C>T (p.Pro430Ser)
|
rs118192224
|
|
NM_172107.4(KCNQ2):c.1302-1G>C
|
rs118192225
|
|
NM_172107.4(KCNQ2):c.1342C>T (p.Arg448Ter)
|
rs118192226
|
|
NM_172107.4(KCNQ2):c.1418_1419del (p.Leu473fs)
|
rs1057516117
|
|
NM_172107.4(KCNQ2):c.1501G>C (p.Ala501Pro)
|
rs1057516118
|
|
NM_172107.4(KCNQ2):c.1525+1G>A
|
rs118192228
|
|
NM_172107.4(KCNQ2):c.1569_1581del (p.Cys523fs)
|
rs1555854036
|
|
NM_172107.4(KCNQ2):c.1609A>T (p.Lys537Ter)
|
rs1555853983
|
|
NM_172107.4(KCNQ2):c.1621A>G (p.Arg541Gly)
|
rs1555853971
|
|
NM_172107.4(KCNQ2):c.1631+1G>A
|
rs1057516121
|
|
NM_172107.4(KCNQ2):c.1632-1G>T
|
rs118192233
|
|
NM_172107.4(KCNQ2):c.1636A>G (p.Met546Val)
|
rs397515420
|
|
NM_172107.4(KCNQ2):c.1639C>T (p.Arg547Trp)
|
rs796052650
|
|
NM_172107.4(KCNQ2):c.1655A>C (p.Lys552Thr)
|
rs1555853613
|
|
NM_172107.4(KCNQ2):c.1657C>T (p.Arg553Trp)
|
rs759584387
|
|
NM_172107.4(KCNQ2):c.1658G>A (p.Arg553Gln)
|
rs118192234
|
|
NM_172107.4(KCNQ2):c.1658G>T (p.Arg553Leu)
|
rs118192234
|
|
NM_172107.4(KCNQ2):c.1662G>T (p.Lys554Asn)
|
rs267607198
|
|
NM_172107.4(KCNQ2):c.1666A>G (p.Lys556Glu)
|
rs1555853593
|
|
NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp)
|
rs773171451
|
|
NM_172107.4(KCNQ2):c.1680_1684dup (p.Tyr562fs)
|
rs118192231
|
|
NM_172107.4(KCNQ2):c.1682C>T (p.Pro561Leu)
|
rs796052652
|
|
NM_172107.4(KCNQ2):c.1687G>A (p.Asp563Asn)
|
rs796052653
|
|
NM_172107.4(KCNQ2):c.1689C>G (p.Asp563Glu)
|
rs35450031
|
|
NM_172107.4(KCNQ2):c.1732A>G (p.Met578Val)
|
rs1057516123
|
|
NM_172107.4(KCNQ2):c.1734G>C (p.Met578Ile)
|
rs796052655
|
|
NM_172107.4(KCNQ2):c.1734_1735delinsAA (p.Met578_Leu579delinsIleMet)
|
rs796052665
|
|
NM_172107.4(KCNQ2):c.1741C>G (p.Arg581Gly)
|
rs118192236
|
|
NM_172107.4(KCNQ2):c.1742G>A (p.Arg581Gln)
|
rs118192235
|
|
NM_172107.4(KCNQ2):c.1764-2A>G
|
rs118192238
|
|
NM_172107.4(KCNQ2):c.1764-6C>A
|
rs118192239
|
|
NM_172107.4(KCNQ2):c.1764A>T (p.Arg588Ser)
|
rs118192237
|
|
NM_172107.4(KCNQ2):c.1776C>G (p.Ile592Met)
|
rs201868078
|
|
NM_172107.4(KCNQ2):c.1783C>T (p.Arg595Trp)
|
rs1555851550
|
|
NM_172107.4(KCNQ2):c.1856_1886del (p.Met619fs)
|
rs1555851445
|
|
NM_172107.4(KCNQ2):c.1910T>G (p.Leu637Arg)
|
rs118192240
|
|
NM_172107.4(KCNQ2):c.1930del (p.Tyr644fs)
|
rs118192241
|
|
NM_172107.4(KCNQ2):c.1956del (p.Thr653fs)
|
rs118192242
|
|
NM_172107.4(KCNQ2):c.1A>G (p.Met1Val)
|
rs118192185
|
|
NM_172107.4(KCNQ2):c.2015del (p.Ser672fs)
|
rs118192243
|
|
NM_172107.4(KCNQ2):c.204dup (p.Lys69fs)
|
rs118192188
|
|
NM_172107.4(KCNQ2):c.2127del (p.Val710fs)
|
rs118192244
|
|
NM_172107.4(KCNQ2):c.2318dup (p.Cys774fs)
|
rs1555850512
|
|
NM_172107.4(KCNQ2):c.232del (p.Gln78fs)
|
rs118192189
|
|
NM_172107.4(KCNQ2):c.2597del (p.Gly866fs)
|
rs118192245
|
|
NM_172107.4(KCNQ2):c.2599_2603dup (p.Arg871fs)
|
rs1555850151
|
|
NM_172107.4(KCNQ2):c.2605_2609dup (p.Arg871fs)
|
rs118192246
|
|
NM_172107.4(KCNQ2):c.296+1G>A
|
rs118192190
|
|
NM_172107.4(KCNQ2):c.297-2A>G
|
rs796052615
|
|
NM_172107.4(KCNQ2):c.2T>C (p.Met1Thr)
|
rs118192186
|
|
NM_172107.4(KCNQ2):c.314_316del (p.Ser105del)
|
rs118192191
|
|
NM_172107.4(KCNQ2):c.333_334del (p.Ser113fs)
|
rs796052663
|
|
NM_172107.4(KCNQ2):c.340A>G (p.Thr114Ala)
|
rs1057516076
|
|
NM_172107.4(KCNQ2):c.341C>T (p.Thr114Ile)
|
rs1057516077
|
|
NM_172107.4(KCNQ2):c.346_348del (p.Lys116del)
|
rs118192192
|
|
NM_172107.4(KCNQ2):c.356A>G (p.Glu119Gly)
|
rs118192193
|
|
NM_172107.4(KCNQ2):c.365C>T (p.Ser122Leu)
|
rs118192194
|
|
NM_172107.4(KCNQ2):c.387+1G>T
|
rs118192195
|
|
NM_172107.4(KCNQ2):c.388-1_389del
|
rs118192196
|
|
NM_172107.4(KCNQ2):c.431G>A (p.Arg144Gln)
|
rs796052618
|
|
NM_172107.4(KCNQ2):c.460T>G (p.Tyr154Asp)
|
rs1057516078
|
|
NM_172107.4(KCNQ2):c.471G>A (p.Trp157Ter)
|
rs1057516079
|
|
NM_172107.4(KCNQ2):c.475G>A (p.Gly159Arg)
|
rs1057516080
|
|
NM_172107.4(KCNQ2):c.476G>A (p.Gly159Glu)
|
rs1057516081
|
|
NM_172107.4(KCNQ2):c.523G>C (p.Val175Leu)
|
rs1057516082
|
|
NM_172107.4(KCNQ2):c.566G>T (p.Gly189Val)
|
rs1057516083
|
|
NM_172107.4(KCNQ2):c.583T>C (p.Ser195Pro)
|
rs796052620
|
|
NM_172107.4(KCNQ2):c.584_593delinsA (p.Ser195_Arg198delinsTer)
|
rs118192197
|
|
NM_172107.4(KCNQ2):c.585dup (p.Ala196fs)
|
rs118192198
|
|
NM_172107.4(KCNQ2):c.587C>T (p.Ala196Val)
|
rs118192199
|
|
NM_172107.4(KCNQ2):c.592_594delinsA (p.Arg198fs)
|
rs1057516084
|
|
NM_172107.4(KCNQ2):c.601C>T (p.Arg201Cys)
|
rs796052623
|
|
NM_172107.4(KCNQ2):c.602G>A (p.Arg201His)
|
rs1057516085
|
|
NM_172107.4(KCNQ2):c.608T>C (p.Leu203Pro)
|
rs1057516086
|
|
NM_172107.4(KCNQ2):c.613A>G (p.Ile205Val)
|
rs1057516087
|
|
NM_172107.4(KCNQ2):c.619C>T (p.Arg207Trp)
|
rs74315391
|
|
NM_172107.4(KCNQ2):c.620G>A (p.Arg207Gln)
|
rs118192200
|
|
NM_172107.4(KCNQ2):c.622A>G (p.Met208Val)
|
rs118192201
|
|
NM_172107.4(KCNQ2):c.628C>T (p.Arg210Cys)
|
rs796052626
|
|
NM_172107.4(KCNQ2):c.629G>A (p.Arg210His)
|
rs886041262
|
|
NM_172107.4(KCNQ2):c.635A>G (p.Asp212Gly)
|
rs118192202
|
|
NM_172107.4(KCNQ2):c.637C>T (p.Arg213Trp)
|
rs118192203
|
|
NM_172107.4(KCNQ2):c.638G>A (p.Arg213Gln)
|
|
|
NM_172107.4(KCNQ2):c.640C>T (p.Arg214Trp)
|
rs28939684
|
|
NM_172107.4(KCNQ2):c.643G>A (p.Gly215Arg)
|
rs1057516088
|
|
NM_172107.4(KCNQ2):c.649A>G (p.Thr217Ala)
|
rs1057516089
|
|
NM_172107.4(KCNQ2):c.650C>A (p.Thr217Asn)
|
rs1057516090
|
|
NM_172107.4(KCNQ2):c.65_68del (p.Val22fs)
|
rs118192187
|
|
NM_172107.4(KCNQ2):c.684C>A (p.His228Gln)
|
rs118192204
|
|
NM_172107.4(KCNQ2):c.700A>C (p.Thr234Pro)
|
rs1057516091
|
|
NM_172107.4(KCNQ2):c.715G>C (p.Gly239Arg)
|
rs1057516092
|
|
NM_172107.4(KCNQ2):c.727C>T (p.Leu243Phe)
|
rs118192205
|
|
NM_172107.4(KCNQ2):c.740C>G (p.Ser247Trp)
|
rs74315392
|
|
NM_172107.4(KCNQ2):c.749T>G (p.Val250Gly)
|
rs118192206
|
|
NM_172107.4(KCNQ2):c.757G>A (p.Ala253Thr)
|
rs1057516093
|
|
NM_172107.4(KCNQ2):c.773A>G (p.Asn258Ser)
|
rs118192207
|
|
NM_172107.4(KCNQ2):c.793G>A (p.Ala265Thr)
|
rs794727740
|
|
NM_172107.4(KCNQ2):c.793G>C (p.Ala265Pro)
|
rs794727740
|
|
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val)
|
rs587777219
|
|
NM_172107.4(KCNQ2):c.802C>T (p.Leu268Phe)
|
rs1057516094
|
|
NM_172107.4(KCNQ2):c.807G>A (p.Trp269Ter)
|
rs118192208
|
|
NM_172107.4(KCNQ2):c.812G>T (p.Gly271Val)
|
rs118192209
|
|
NM_172107.4(KCNQ2):c.821C>T (p.Thr274Met)
|
rs727503974
|
|
NM_172107.4(KCNQ2):c.827C>T (p.Thr276Ile)
|
rs1057516095
|
|
NM_172107.4(KCNQ2):c.835G>T (p.Gly279Cys)
|
rs1057516096
|
|
NM_172107.4(KCNQ2):c.841G>A (p.Gly281Arg)
|
rs794727813
|
|
NM_172107.4(KCNQ2):c.841G>T (p.Gly281Trp)
|
rs794727813
|
|
NM_172107.4(KCNQ2):c.847_848insGT (p.Lys283fs)
|
rs118192210
|
|
NM_172107.4(KCNQ2):c.851A>G (p.Tyr284Cys)
|
rs28939683
|
|
NM_172107.4(KCNQ2):c.854C>A (p.Pro285His)
|
rs1057516097
|
|
NM_172107.4(KCNQ2):c.860C>A (p.Thr287Asn)
|
rs727503973
|
|
NM_172107.4(KCNQ2):c.868G>A (p.Gly290Ser)
|
rs1057516098
|
|
NM_172107.4(KCNQ2):c.869G>A (p.Gly290Asp)
|
rs397514582
|
|
NM_172107.4(KCNQ2):c.881C>G (p.Ala294Gly)
|
rs118192211
|
|
NM_172107.4(KCNQ2):c.881C>T (p.Ala294Val)
|
|
|
NM_172107.4(KCNQ2):c.886A>C (p.Thr296Pro)
|
rs756921902
|
|
NM_172107.4(KCNQ2):c.901G>A (p.Gly301Ser)
|
rs1057516099
|
|
NM_172107.4(KCNQ2):c.910TTC[1] (p.Phe305del)
|
rs118192212
|
|
NM_172107.4(KCNQ2):c.911T>C (p.Phe304Ser)
|
rs1057516100
|
|
NM_172107.4(KCNQ2):c.915C>A (p.Phe305Leu)
|
rs775918190
|
|
NM_172107.4(KCNQ2):c.916G>A (p.Ala306Thr)
|
rs74315390
|
|
NM_172107.4(KCNQ2):c.917C>T (p.Ala306Val)
|
rs864321707
|
|
NM_172107.4(KCNQ2):c.926C>T (p.Ala309Val)
|
|
|
NM_172107.4(KCNQ2):c.928-1G>C
|
rs1057516102
|
|
NM_172107.4(KCNQ2):c.939dup (p.Ser314fs)
|
rs118192213
|
|
NM_172107.4(KCNQ2):c.943G>C (p.Gly315Arg)
|
rs864321709
|
|
NM_172107.4(KCNQ2):c.967C>T (p.Gln323Ter)
|
rs118192214
|
|
NM_172107.4(KCNQ2):c.973A>C (p.Arg325=)
|
rs1057516103
|
|
NM_172107.4(KCNQ2):c.973A>G (p.Arg325Gly)
|
rs1057516103
|
|
NM_172107.4(KCNQ2):c.997C>T (p.Arg333Trp)
|
rs118192215
|
|
NM_172107.4(KCNQ2):c.998G>A (p.Arg333Gln)
|
rs118192216
|
|
NM_172250.3(MMAA):c.161G>A (p.Trp54Ter)
|
rs864309725
|
|
NM_172250.3(MMAA):c.358C>T (p.Gln120Ter)
|
rs864309727
|
|
NM_172250.3(MMAA):c.397C>T (p.Gln133Ter)
|
rs754545360
|
|
NM_172250.3(MMAA):c.503del (p.Thr168fs)
|
rs864309728
|
|
NM_172250.3(MMAA):c.562G>C (p.Gly188Arg)
|
rs864309729
|
|
NM_172250.3(MMAA):c.593_596del (p.Thr198fs)
|
rs796051993
|
|
NM_172250.3(MMAA):c.650T>A (p.Leu217Ter)
|
rs140356252
|
|
NM_172250.3(MMAA):c.653G>A (p.Gly218Glu)
|
rs864309730
|
|
NM_173477.5(USH1G):c.394dup (p.Val132fs)
|
rs587776546
|
|
NM_173477.5(USH1G):c.832_851del (p.Ser278fs)
|
rs397515345
|
|
NM_173500.4(TTBK2):c.1287_1288del (p.Glu429fs)
|
rs80356539
|
|
NM_173500.4(TTBK2):c.1306_1307del (p.Asp436fs)
|
rs318240735
|
|
NM_173500.4(TTBK2):c.1329dup (p.Arg444fs)
|
rs80356538
|
|
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs)
|
rs606231128
|
|
NM_174936.4(PCSK9):c.1120G>T (p.Asp374Tyr)
|
rs137852912
|
|
NM_174936.4(PCSK9):c.381T>A (p.Ser127Arg)
|
rs28942111
|
|
NM_174936.4(PCSK9):c.644G>A (p.Arg215His)
|
rs794728683
|
|
NM_174936.4(PCSK9):c.646T>C (p.Phe216Leu)
|
rs28942112
|
|
NM_177400.3(NKX6-2):c.121A>T (p.Lys41Ter)
|
rs1131692047
|
|
NM_177400.3(NKX6-2):c.196del (p.Arg66fs)
|
rs1554961118
|
|
NM_177400.3(NKX6-2):c.487C>G (p.Leu163Val)
|
rs1131692048
|
|
NM_177400.3(NKX6-2):c.565G>T (p.Glu189Ter)
|
rs776560015
|
|
NM_177400.3(NKX6-2):c.589C>T (p.Gln197Ter)
|
rs1565019976
|
|
NM_177400.3(NKX6-2):c.599G>A (p.Arg200Gln)
|
rs1008088032
|
|
NM_177400.3(NKX6-2):c.606delinsTA (p.Lys202fs)
|
rs1565019932
|
|
NM_177400.3(NKX6-2):c.608G>A (p.Trp203Ter)
|
rs1565019928
|
|
NM_177924.5(ASAH1):c.125+211_383-1330del
|
|
|
NM_177924.5(ASAH1):c.703G>C (p.Gly235Arg)
|
rs1554808625
|
|
NM_177924.5(ASAH1):c.917+4A>G
|
rs397509415
|
|
NM_178012.5(TUBB2B):c.1261G>A (p.Glu421Lys)
|
rs398122369
|
|
NM_178452.6(DNAAF1):c.124+1536_353-2102del
|
|
|
NM_178452.6(DNAAF1):c.1349dup (p.Pro451fs)
|
rs397515339
|
|
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_181523.3(PIK3R1):c.1465G>A (p.Glu489Lys)
|
rs397514047
|
|
NM_181523.3(PIK3R1):c.1612ATT[1] (p.Ile539del)
|
rs397514046
|
|
NM_181523.3(PIK3R1):c.1892G>A (p.Arg631Gln)
|
rs515726149
|
|
NM_181523.3(PIK3R1):c.1906_1907del (p.Asn636fs)
|
rs515726150
|
|
NM_181523.3(PIK3R1):c.1943dup (p.Arg649fs)
|
rs398122384
|
|
NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp)
|
rs397515453
|
|
NM_181523.3(PIK3R1):c.1971T>G (p.Tyr657Ter)
|
rs515726151
|
|
NM_181714.4(LCA5):c.0_-298+211del
|
|
|
NM_181882.3(PRX):c.1951G>A (p.Asp651Asn)
|
rs3814290
|
|
NM_181882.3(PRX):c.2098del (p.Ala700fs)
|
rs281865062
|
|
NM_181882.3(PRX):c.247del (p.Leu83fs)
|
rs281865061
|
|
NM_182476.3(COQ6):c.1058C>A (p.Ala353Asp)
|
rs397514479
|
|
NM_182476.3(COQ6):c.1341G>A (p.Trp447Ter)
|
rs1057519351
|
|
NM_182476.3(COQ6):c.1383del (p.Ile462fs)
|
rs1057519352
|
|
NM_182476.3(COQ6):c.484C>T (p.Arg162Ter)
|
rs189840848
|
|
NM_182476.3(COQ6):c.763G>A (p.Gly255Arg)
|
rs1057519350
|
|
NM_182760.4(SUMF1):c.739G>C (p.Gly247Arg)
|
rs1057517363
|
|
NM_182760.4(SUMF1):c.788G>T (p.Gly263Val)
|
rs387906976
|
|
NM_182978.4(GNAL):c.964C>T (p.Arg322Ter)
|
rs1252185897
|
|
NM_183050.4(BCKDHB):c.1114G>T (p.Glu372Ter)
|
rs386834234
|
|
NM_183357.3(ADCY5):c.1252C>T (p.Arg418Trp)
|
rs864309483
|
|
NM_183357.3(ADCY5):c.1253G>A (p.Arg418Gln)
|
rs864309515
|
|
NM_183357.3(ADCY5):c.2088+1G>A
|
rs797045002
|
|
NM_183357.3(ADCY5):c.2176G>A (p.Ala726Thr)
|
rs796065306
|
|
NM_183357.3(ADCY5):c.3086T>A (p.Met1029Lys)
|
rs864309484
|
|
NM_194248.1:c.1912-2C>T
|
|
|
NM_194248.1:c.2295_2297delG
|
|
|
NM_194248.1:c.3704-3720delACCGCTCGGCCCCCAG
|
|
|
NM_194248.1:c.5860_5862delATC
|
|
|
NM_194248.1:c.766-2T>A
|
|
|
NM_194248.3(OTOF):c.1103_1104delinsC (p.Gly368fs)
|
rs397515579
|
|
NM_194248.3(OTOF):c.1180dup (p.Glu394fs)
|
rs397515580
|
|
NM_194248.3(OTOF):c.1236del (p.Glu413fs)
|
rs397515581
|
|
NM_194248.3(OTOF):c.1469C>A (p.Pro490Gln)
|
rs80356585
|
|
NM_194248.3(OTOF):c.1552_1567del (p.Arg518fs)
|
rs1443739332
|
|
NM_194248.3(OTOF):c.1601del (p.Pro534fs)
|
rs397515583
|
|
NM_194248.3(OTOF):c.1607G>A (p.Trp536Ter)
|
rs397515584
|
|
NM_194248.3(OTOF):c.1609del (p.Trp536_Val537insTer)
|
rs397515585
|
|
NM_194248.3(OTOF):c.1651del (p.Glu551fs)
|
rs80356587
|
|
NM_194248.3(OTOF):c.1718T>G (p.Leu573Arg)
|
rs397515586
|
|
NM_194248.3(OTOF):c.1740del (p.Ser581fs)
|
rs397515587
|
|
NM_194248.3(OTOF):c.1780G>A (p.Glu594Lys)
|
rs397515588
|
|
NM_194248.3(OTOF):c.1841G>A (p.Gly614Glu)
|
rs397515589
|
|
NM_194248.3(OTOF):c.1886dup (p.Pro630fs)
|
rs80356588
|
|
NM_194248.3(OTOF):c.1966del (p.Arg656fs)
|
rs397515590
|
|
NM_194248.3(OTOF):c.2122C>T (p.Arg708Ter)
|
rs80356590
|
|
NM_194248.3(OTOF):c.2214+1G>T
|
rs80356589
|
|
NM_194248.3(OTOF):c.2239G>T (p.Glu747Ter)
|
rs397515591
|
|
NM_194248.3(OTOF):c.2316C>A (p.Cys772Ter)
|
rs397515592
|
|
NM_194248.3(OTOF):c.2348del (p.Gly783fs)
|
rs80356591
|
|
NM_194248.3(OTOF):c.2580C>G (p.Val860=)
|
rs2272069
|
|
NM_194248.3(OTOF):c.2649C>A (p.Cys883Ter)
|
rs397515593
|
|
NM_194248.3(OTOF):c.2684_2685del (p.Gly895fs)
|
rs397515594
|
|
NM_194248.3(OTOF):c.2732_2735dup (p.Tyr913fs)
|
rs397515595
|
|
NM_194248.3(OTOF):c.2891C>A (p.Ala964Glu)
|
rs201329629
|
|
NM_194248.3(OTOF):c.2905_2923delinsCTCCGAGCGCA (p.Ala969fs)
|
rs397515596
|
|
NM_194248.3(OTOF):c.2977_2978del (p.Gln994fs)
|
rs397515597
|
|
NM_194248.3(OTOF):c.3032T>C (p.Leu1011Pro)
|
rs80356596
|
|
NM_194248.3(OTOF):c.3239G>C (p.Arg1080Pro)
|
rs397515598
|
|
NM_194248.3(OTOF):c.3269C>A (p.Ala1090Glu)
|
rs370609551
|
|
NM_194248.3(OTOF):c.3413T>C (p.Leu1138Pro)
|
rs397515599
|
|
NM_194248.3(OTOF):c.3571-2A>C
|
rs80356597
|
|
NM_194248.3(OTOF):c.4275G>A (p.Trp1425Ter)
|
rs80356598
|
|
NM_194248.3(OTOF):c.4351G>T (p.Gly1451Ter)
|
rs397515602
|
|
NM_194248.3(OTOF):c.4467dup (p.Ile1490fs)
|
rs797044816
|
|
NM_194248.3(OTOF):c.4483C>T (p.Arg1495Ter)
|
rs147321712
|
|
NM_194248.3(OTOF):c.4491T>A (p.Tyr1497Ter)
|
rs80356600
|
|
NM_194248.3(OTOF):c.4500+2T>G
|
rs80356599
|
|
NM_194248.3(OTOF):c.4809C>A (p.Tyr1603Ter)
|
rs143939430
|
|
NM_194248.3(OTOF):c.4873G>A (p.Val1625Met)
|
rs80356579
|
|
NM_194248.3(OTOF):c.4936C>T (p.Pro1646Ser)
|
rs17005371
|
|
NM_194248.3(OTOF):c.4960+1G>C
|
rs80356602
|
|
NM_194248.3(OTOF):c.5011dup (p.Trp1671fs)
|
rs397515604
|
|
NM_194248.3(OTOF):c.5384T>G (p.Phe1795Cys)
|
rs397515606
|
|
NM_194248.3(OTOF):c.5407GAG[1] (p.Glu1804del)
|
rs397515607
|
|
NM_194248.3(OTOF):c.5473C>G (p.Pro1825Ala)
|
rs28937591
|
|
NM_194248.3(OTOF):c.5663G>A (p.Gly1888Asp)
|
rs80356583
|
|
NM_194248.3(OTOF):c.5800dup (p.Leu1934fs)
|
rs397515609
|
|
NM_194248.3(OTOF):c.5960C>G (p.Pro1987Arg)
|
rs80356606
|
|
NM_194248.3(OTOF):c.709C>T (p.Arg237Ter)
|
rs397515610
|
|
NM_194248.3(OTOF):c.765G>C (p.Gln255His)
|
rs397515611
|
|
NM_194248.3(OTOF):c.766-2A>G
|
rs80356584
|
|
NM_194279.4(ISCA2):c.229G>A (p.Gly77Ser)
|
rs730882246
|
|
NM_194279.4(ISCA2):c.297del (p.Phe99fs)
|
rs778755775
|
|
NM_194279.4(ISCA2):c.334A>G (p.Ser112Gly)
|
rs767352340
|
|
NM_194318.4(B3GLCT):c.1098T>A (p.Tyr366Ter)
|
rs80338852
|
|
NM_194454.3(KRIT1):c.1363C>T (p.Gln455Ter)
|
rs267607203
|
|
NM_194454.3(KRIT1):c.987C>A (p.Cys329Ter)
|
rs267607204
|
|
NM_198129.4(LAMA3):c.6943A>T (p.Arg2315Ter)
|
rs80356679
|
|
NM_198253.3(TERT):c.*6_*182del
|
rs199422308
|
|
NM_198253.3(TERT):c.112del (p.Leu38fs)
|
rs199422290
|
|
NM_198253.3(TERT):c.1378_1380del (p.Gln460del)
|
rs199422292
|
|
NM_198253.3(TERT):c.1456C>T (p.Arg486Cys)
|
rs199422293
|
|
NM_198253.3(TERT):c.164T>A (p.Leu55Gln)
|
rs387907247
|
|
NM_198253.3(TERT):c.1892G>A (p.Arg631Gln)
|
rs199422294
|
|
NM_198253.3(TERT):c.2029G>T (p.Gly677Cys)
|
rs199422296
|
|
NM_198253.3(TERT):c.2045G>A (p.Gly682Asp)
|
rs199422295
|
|
NM_198253.3(TERT):c.2147C>T (p.Ala716Val)
|
rs199422298
|
|
NM_198253.3(TERT):c.2162C>G (p.Pro721Arg)
|
rs199422299
|
|
NM_198253.3(TERT):c.219+1G>A
|
rs199422309
|
|
NM_198253.3(TERT):c.2240del (p.Val747fs)
|
rs199422300
|
|
NM_198253.3(TERT):c.2315A>G (p.Tyr772Cys)
|
rs121918663
|
|
NM_198253.3(TERT):c.2537A>G (p.Tyr846Cys)
|
rs199422302
|
|
NM_198253.3(TERT):c.2583-2A>C
|
rs111576740
|
|
NM_198253.3(TERT):c.2628C>G (p.His876Gln)
|
rs199422303
|
|
NM_198253.3(TERT):c.2706G>C (p.Lys902Asn)
|
rs121918665
|
|
NM_198253.3(TERT):c.2935C>T (p.Arg979Trp)
|
rs199422305
|
|
NM_198253.3(TERT):c.3043T>C (p.Cys1015Arg)
|
rs199422307
|
|
NM_198253.3(TERT):c.430G>A (p.Val144Met)
|
rs199422291
|
|
NM_198253.3(TERT):c.97C>T (p.Pro33Ser)
|
rs199422289
|
|
NM_198576.4(AGRN):c.1057C>T (p.Gln353Ter)
|
rs587777299
|
|
NM_198576.4(AGRN):c.1362dup (p.Ser455fs)
|
rs879253788
|
|
NM_198576.4(AGRN):c.226G>A (p.Gly76Ser)
|
rs756623659
|
|
NM_198576.4(AGRN):c.314A>T (p.Asn105Ile)
|
rs879253787
|
|
NM_198576.4(AGRN):c.5125G>C (p.Gly1709Arg)
|
rs199476396
|
|
NM_198576.4(AGRN):c.5179G>T (p.Val1727Phe)
|
rs587777298
|
|
NM_198578.4(LRRK2):c.1088A>G (p.Asn363Ser)
|
rs72546336
|
|
NM_198578.4(LRRK2):c.1288G>A (p.Val430Ile)
|
rs878853305
|
|
NM_198578.4(LRRK2):c.1674= (p.Gly558=)
|
rs77424631
|
|
NM_198578.4(LRRK2):c.2134A>G (p.Met712Val)
|
rs199566791
|
|
NM_198578.4(LRRK2):c.2147C>T (p.Ala716Val)
|
rs281865043
|
|
NM_198578.4(LRRK2):c.2428A>G (p.Ile810Val)
|
rs72546337
|
|
NM_198578.4(LRRK2):c.2789A>G (p.Gln930Arg)
|
rs281865045
|
|
NM_198578.4(LRRK2):c.28G>A (p.Glu10Lys)
|
rs281865040
|
|
NM_198578.4(LRRK2):c.2918G>A (p.Ser973Asn)
|
rs75148313
|
|
NM_198578.4(LRRK2):c.3187C>T (p.Leu1063Phe)
|
rs878853306
|
|
NM_198578.4(LRRK2):c.3364A>G (p.Ile1122Val)
|
rs34805604
|
|
NM_198578.4(LRRK2):c.3494T>C (p.Leu1165Pro)
|
rs281865046
|
|
NM_198578.4(LRRK2):c.3647A>G (p.His1216Arg)
|
rs72546324
|
|
NM_198578.4(LRRK2):c.3683G>T (p.Ser1228Ile)
|
rs60185966
|
|
NM_198578.4(LRRK2):c.4125C>A (p.Asp1375Glu)
|
rs28365226
|
|
NM_198578.4(LRRK2):c.4193G>A (p.Arg1398His)
|
rs7133914
|
|
NM_198578.4(LRRK2):c.4258G>A (p.Asp1420Asn)
|
rs113589830
|
|
NM_198578.4(LRRK2):c.4309A>C (p.Asn1437His)
|
rs74163686
|
|
NM_198578.4(LRRK2):c.4314A>G (p.Ile1438Met)
|
rs878853307
|
|
NM_198578.4(LRRK2):c.4321C>G (p.Arg1441Gly)
|
rs33939927
|
|
NM_198578.4(LRRK2):c.4324G>C (p.Ala1442Pro)
|
rs281865048
|
|
NM_198578.4(LRRK2):c.4358A>G (p.His1453Arg)
|
rs878853308
|
|
NM_198578.4(LRRK2):c.4364_4365del (p.Asp1455fs)
|
rs281865049
|
|
NM_198578.4(LRRK2):c.4402A>G (p.Lys1468Glu)
|
rs281865050
|
|
NM_198578.4(LRRK2):c.4441G>A (p.Ala1481Thr)
|
rs878853309
|
|
NM_198578.4(LRRK2):c.4666C>A (p.Leu1556Ile)
|
rs17491187
|
|
NM_198578.4(LRRK2):c.4793T>A (p.Val1598Glu)
|
rs721710
|
|
NM_198578.4(LRRK2):c.4838T>C (p.Val1613Ala)
|
rs281865051
|
|
NM_198578.4(LRRK2):c.4883G>C (p.Arg1628Pro)
|
rs33949390
|
|
NM_198578.4(LRRK2):c.5096A>G (p.Tyr1699Cys)
|
rs35801418
|
|
NM_198578.4(LRRK2):c.5173C>T (p.Arg1725Ter)
|
rs11564176
|
|
NM_198578.4(LRRK2):c.5183G>T (p.Arg1728Leu)
|
rs145364431
|
|
NM_198578.4(LRRK2):c.5273A>C (p.His1758Pro)
|
rs878853310
|
|
NM_198578.4(LRRK2):c.5385G>T (p.Leu1795Phe)
|
rs111910483
|
|
NM_198578.4(LRRK2):c.5605A>G (p.Met1869Val)
|
rs281865052
|
|
NM_198578.4(LRRK2):c.5610G>T (p.Leu1870Phe)
|
rs281865053
|
|
NM_198578.4(LRRK2):c.5620G>T (p.Glu1874Ter)
|
rs281865054
|
|
NM_198578.4(LRRK2):c.6016T>C (p.Tyr2006His)
|
rs281865055
|
|
NM_198578.4(LRRK2):c.6059T>C (p.Ile2020Thr)
|
rs35870237
|
|
NM_198578.4(LRRK2):c.6187_6191del (p.Leu2062_Leu2063insTer)
|
rs111739194
|
|
NM_198578.4(LRRK2):c.6356C>T (p.Pro2119Leu)
|
rs12423862
|
|
NM_198578.4(LRRK2):c.6415T>A (p.Cys2139Ser)
|
rs112048985
|
|
NM_198578.4(LRRK2):c.6523G>C (p.Asp2175His)
|
rs72547981
|
|
NM_198578.4(LRRK2):c.6782A>T (p.Asn2261Ile)
|
rs12581902
|
|
NM_198578.4(LRRK2):c.7006A>G (p.Ile2336Val)
|
rs878853311
|
|
NM_198578.4(LRRK2):c.7183G>A (p.Glu2395Lys)
|
rs78964014
|
|
NM_198578.4(LRRK2):c.7267A>T (p.Thr2423Ser)
|
rs1060499538
|
|
NM_198578.4(LRRK2):c.7468del (p.Gln2490fs)
|
rs281865058
|
|
NM_198578.4(LRRK2):c.894T>C (p.Ala298=)
|
rs57355477
|
|
NM_198578.4(LRRK2):c.936G>T (p.Ala312=)
|
rs41286466
|
|
NM_198586.3(NHLRC1):c.593T>A (p.Ile198Asn)
|
rs121917876
|
|
NM_198947.4(FAM111B):c.1247T>C (p.Phe416Ser)
|
rs2135404867
|
|
NM_198947.4(FAM111B):c.1262_1264del (p.Lys421del)
|
rs886039851
|
|
NM_198947.4(FAM111B):c.1289A>C (p.Gln430Pro)
|
rs551644836
|
|
NM_198947.4(FAM111B):c.1861T>G (p.Tyr621Asp)
|
rs587777236
|
|
NM_198947.4(FAM111B):c.1874C>A (p.Thr625Asn)
|
rs886039852
|
|
NM_198947.4(FAM111B):c.1879A>G (p.Arg627Gly)
|
rs587777237
|
|
NM_198947.4(FAM111B):c.1881A>T (p.Arg627Ser)
|
rs2135405562
|
|
NM_198947.4(FAM111B):c.1883G>A (p.Ser628Asn)
|
rs587777238
|
|
NM_198947.4(FAM111B):c.1884T>A (p.Ser628Arg)
|
rs2135405570
|
|
NM_199242.3(UNC13D):c.118-307G>A
|
rs1019391145
|
|
NM_201596.3(CACNB2):c.1604C>T (p.Ser535Leu)
|
rs121917812
|
|
NM_203290.4(POLR1C):c.395G>A (p.Gly132Asp)
|
rs201320592
|
|
NM_203290.4(POLR1C):c.436T>C (p.Cys146Arg)
|
rs796052125
|
|
NM_203290.4(POLR1C):c.461_462del (p.Lys154fs)
|
rs770857344
|
|
NM_203290.4(POLR1C):c.77C>T (p.Thr26Ile)
|
rs796052126
|
|
NM_203290.4(POLR1C):c.880AAG[1] (p.Lys295del)
|
rs875989826
|
|
NM_203290.4(POLR1C):c.95A>T (p.Asn32Ile)
|
rs796052124
|
|
NM_203290.4(POLR1C):c.970G>A (p.Glu324Lys)
|
rs1582184344
|
|
NM_206933.4(USH2A):c.14020A>G (p.Arg4674Gly)
|
rs80338904
|
|
NM_207346.3(TSEN54):c.1027C>T (p.Gln343Ter)
|
rs113994154
|
|
NM_207346.3(TSEN54):c.736C>T (p.Gln246Ter)
|
rs113994153
|
|
NM_207352.4(CYP4V2):c.1020G>A (p.Trp340Ter)
|
rs199476198
|
|
NM_207352.4(CYP4V2):c.1021T>C (p.Ser341Pro)
|
rs199476199
|
|
NM_207352.4(CYP4V2):c.1157A>C (p.Lys386Thr)
|
rs199476200
|
|
NM_207352.4(CYP4V2):c.1169G>A (p.Arg390His)
|
rs199476201
|
|
NM_207352.4(CYP4V2):c.1226-6_1235del
|
rs199476184
|
|
NM_207352.4(CYP4V2):c.1445C>A (p.Ser482Ter)
|
rs146494374
|
|
NM_207352.4(CYP4V2):c.1526C>T (p.Pro509Leu)
|
rs199476205
|
|
NM_207352.4(CYP4V2):c.181G>A (p.Gly61Ser)
|
rs119103285
|
|
NM_207352.4(CYP4V2):c.327+1G>A
|
rs199476182
|
|
NM_207352.4(CYP4V2):c.335T>G (p.Leu112Ter)
|
rs199476188
|
|
NM_207352.4(CYP4V2):c.518T>G (p.Leu173Trp)
|
rs199476190
|
|
NM_207352.4(CYP4V2):c.655T>C (p.Tyr219His)
|
rs199476191
|
|
NM_207352.4(CYP4V2):c.759dup (p.His254fs)
|
rs199476192
|
|
NM_207352.4(CYP4V2):c.802-8_810delinsGC
|
rs207482233
|
|
NM_207352.4(CYP4V2):c.958C>T (p.Arg320Ter)
|
rs199476194
|
|
NM_207352.4(CYP4V2):c.971A>T (p.Asp324Val)
|
rs199476195
|
|
NM_212472.2(PRKAR1A):c.178_348del (p.Glu60_Lys116del)
|
|
|
NM_212482.4(FN1):c.2422ACA[1] (p.Thr809del)
|
rs1553636502
|
|
NM_212482.4(FN1):c.260G>T (p.Cys87Phe)
|
rs1553669703
|
|
NM_212482.4(FN1):c.718T>G (p.Tyr240Asp)
|
rs1553659131
|
|
NM_213599.3(ANO5):c.1066T>C (p.Cys356Arg)
|
rs119103234
|
|
NM_213599.3(ANO5):c.1066T>G (p.Cys356Gly)
|
rs119103234
|
|
NM_213599.3(ANO5):c.2311_2312del (p.Gln771fs)
|
rs137854528
|
|
NM_213655.4(WNK1):c.759+12272_760-5774del
|
|
|
NM_213655.5(WNK1):c.2952del (p.Glu984fs)
|
rs137852734
|
|
NM_213655.5(WNK1):c.3276dup (p.Ser1093fs)
|
rs137852735
|
|
NM_213655.5(WNK1):c.3492dup (p.Asp1165Ter)
|
rs1951913764
|
|
NM_213720.2(CHCHD10):c.[43C>A ;172G>C]
|
|
|
NM_213720.3(CHCHD10):c.176C>T (p.Ser59Leu)
|
rs587777574
|
|
NM_213720.3(CHCHD10):c.197G>T (p.Gly66Val)
|
rs730880031
|
|
NM_213720.3(CHCHD10):c.44G>T (p.Arg15Leu)
|
rs730880030
|
|
NP_000251.3(MYO7A):p.Tyr1302fsTer97
|
|
|
NP_000521.1(MPZ):p.Asn116Ser
|
|
|
NP_000531.2:p.4894Q
|
|
|
NP_000531.2:p.F4860del
|
|
|
NP_000531.2:p.F4906del
|
|
|
NP_000531.2:p.G4893R
|
|
|
NP_000531.2:p.L4647del
|
|
|
NP_002046.1(GFAP):p.Glu373Asp
|
|
|
NP_002046.1(GFAP):p.Met415Ile
|
|
|
NP_002046.1:p.Phe261_Thr302del
|
|
|
NP_002760.1(PRSS1):p.Cys139Ser
|
|
|
NP_005700.2(USH1C):p.Arg357Trp
|
|
|
NP_055006.1(SCN8A):p.Pro1428_Lys1473del
|
|
|
NP_055400.1(SLC40A1):p.Gln248His
|
|
|
NR_001566.1(TERC):n.-100C>G
|
rs199422256
|
|
NR_001566.1(TERC):n.-240_-239del
|
rs199422255
|
|
NR_001566.1(TERC):n.100T>A
|
rs199422269
|
|
NR_001566.1(TERC):n.107_108delinsAG
|
rs199476393
|
|
NR_001566.1(TERC):n.110_113del
|
rs199422270
|
|
NR_001566.1(TERC):n.116C>T
|
rs199422272
|
|
NR_001566.1(TERC):n.117A>C
|
rs199422273
|
|
NR_001566.1(TERC):n.143G>A
|
rs199422274
|
|
NR_001566.1(TERC):n.178G>A
|
rs199422275
|
|
NR_001566.1(TERC):n.180C>T
|
rs199422276
|
|
NR_001566.1(TERC):n.204C>G
|
rs199422277
|
|
NR_001566.1(TERC):n.216_229del
|
rs199422278
|
|
NR_001566.1(TERC):n.28_34del
|
rs199422259
|
|
NR_001566.1(TERC):n.2G>C
|
rs199422257
|
|
NR_001566.1(TERC):n.305G>A
|
rs199422279
|
|
NR_001566.1(TERC):n.322G>A
|
rs199422280
|
|
NR_001566.1(TERC):n.323C>T
|
rs199422281
|
|
NR_001566.1(TERC):n.374_1194del821
|
rs1553915517
|
|
NR_001566.1(TERC):n.391_392del
|
rs199422283
|
|
NR_001566.1(TERC):n.408C>G
|
rs199422284
|
|
NR_001566.1(TERC):n.410C>G
|
rs199422286
|
|
NR_001566.1(TERC):n.48A>G
|
rs199422262
|
|
NR_001566.1(TERC):n.53_87del
|
rs199422264
|
|
NR_001566.1(TERC):n.54_57del
|
rs199422263
|
|
NR_001566.1(TERC):n.72C>G
|
rs199422265
|
|
NR_001566.1(TERC):n.79del
|
rs199422266
|
|
NR_001566.1(TERC):n.96_97del
|
rs199422267
|
|
NR_001566.1(TERC):n.98G>A
|
rs199422268
|
|
OCRL:exon 6-12 del
|
|
|
PI NULL(HONG KONG 1)
|
rs1057519610
|
|
PI NULL(PROCIDA)
|
|
|
QOgranite falls allele
|
|
|
SIX3:c.942G>A
|
|
|
Single allele
|
|
|
TERT:c.1710G>Y (p.Lys570Asn)
|
rs1554041299
|
|
TGIF1:c.887C>T
|
|
|
TTN:c.106668delA (p.Lys35556Argfs)
|
rs587776772
|
|
Uniparental disomy of chromosome 7
|
|
|
arr[hg19]17p11.2(16,757,111-20,219,651)x3
|
|
|
c.1069A>G
|
|
|
c.10_11 ins10bp
|
|
|
c.1180-1181delCT
|
|
|
c.1228G>A
|
|
|
c.1263+81_1596+?del
|
|
|
c.1308C>T
|
|
|
c.1323C>T
|
|
|
c.1330-1333delTTCC
|
|
|
c.2249ins9
|
|
|
c.2639del200nt
|
|
|
c.3802delG
|
|
|
c.52_53delCT
|
|
|
c.599C>T
|
|
|
c.667_684del(664_681del)
|
|
|
c.7271T>G
|
|
|
c.8313-2A>C
|
|
|
c.972T>C
|
|
|
c.[708G>C]+[784C>T]
|
|
|
c.[c.38dupA]+[1571G>A]
|
|
|
del(15)(q15.1-q15.3)
|
|
|
del(GJB6-D13S1830)
|
|
|
g.6109607_6112272del
|
|
|
g.6116239_6120157del
|
|
|
g.96677_99386del2710
|
|
|
inv(8)(q13q24.1)
|
|
|
inv(8)(q21.1q24.1)
|
|
|
m.10158T>C
|
rs199476117
|
|
m.10191T>C
|
rs267606890
|
|
m.10197G>A
|
rs267606891
|
|
m.10237T>C
|
rs1556423787
|
|
m.10663T>C
|
rs1556423844
|
|
m.11253T>C
|
rs200145866
|
|
m.11696G>A
|
rs200873900
|
|
m.11777C>A
|
rs28384199
|
|
m.12147G>A
|
rs121434474
|
|
m.12207G>A
|
rs118203889
|
|
m.12706T>C
|
rs267606893
|
|
m.12770A>G
|
rs267606894
|
|
m.12811T>C
|
rs199974018
|
|
m.12848C>T
|
rs267606899
|
|
m.13042G>A
|
rs267606898
|
|
m.13084A>T
|
rs267606896
|
|
m.13513G>A
|
rs267606897
|
|
m.13637A>G
|
rs200855215
|
|
m.13708G>A
|
rs28359178
|
|
m.13730G>A
|
rs387906425
|
|
m.14279G>A
|
rs869025187
|
|
m.14325T>C
|
rs397515505
|
|
m.14453G>A
|
rs199476107
|
|
m.14459G>A
|
rs199476105
|
|
m.14482C>A
|
rs199476108
|
|
m.14482C>G
|
rs199476108
|
|
m.14487T>C
|
rs199476109
|
|
m.14495A>G
|
rs199476106
|
|
m.14498T>C
|
rs869025186
|
|
m.14568C>T
|
rs397515506
|
|
m.14596A>T
|
rs387906424
|
|
m.14831G>A
|
rs199795644
|
|
m.15257G>A
|
rs41518645
|
|
m.1624C>T
|
rs199476144
|
|
m.3252A>G
|
rs199474661
|
|
m.3256C>T
|
rs199474659
|
|
m.3260A>G
|
rs199474663
|
|
m.3271T>C
|
rs199474658
|
|
m.3376G>A
|
rs397515612
|
|
m.3635G>A
|
rs397515507
|
|
m.3697G>A
|
rs199476122
|
|
m.3700G>A
|
rs397515508
|
|
m.3733G>A
|
rs199476125
|
|
m.3946G>A
|
rs199476123
|
|
m.3949T>C
|
rs199476124
|
|
m.4025C>T
|
rs397515509
|
|
m.4160T>C
|
rs199476119
|
|
m.4171C>A
|
rs28616230
|
|
m.4216T>C
|
rs1599988
|
|
m.4332G>A
|
rs199476141
|
|
m.4640C>A
|
rs387906426
|
|
m.4681T>C
|
rs267606889
|
|
m.5244G>A
|
rs199476115
|
|
m.5521G>A
|
rs199474673
|
|
m.5537_5538insT
|
rs199474672
|
|
m.583G>A
|
rs118203885
|
|
m.611G>A
|
rs118203886
|
|
m.7445A>C
|
rs199474818
|
|
m.7510T>C
|
rs199474820
|
|
m.7511T>C
|
rs199474821
|
|
m.7512T>C
|
rs199474817
|
|
m.8296A>G
|
rs118192102
|
|
m.8344A>G
|
rs118192098
|
|
m.8356T>C
|
rs118192099
|
|
m.8361G>A
|
rs118192104
|
|
m.8363G>A
|
rs118192100
|
|
m.9101T>C
|
rs199476134
|
|
m.9537dupC
|
rs267606614
|
|
m.961T>G
|
rs3888511
|
|
m.961_962delTinsC(n)
|
|
|
m.9804G>A
|
rs200613617
|
|
mitochondrial DNA deletion
|
|
|
nsv1067840
|
|
|
nsv1067844
|
|
|
nsv1197577
|
|
|
nsv513769
|
|
|
nsv930453
|
|
|
p.L4796C
|
|
|
p.M2434K
|
|
|
t(3;7)(q23;q31.2)
|
|
|
t(5;7)(q22;q31.2)
|
|
|
t(7;13)(q31.1;q13.2)
|
|
|