NM_000518.5(HBB):c.315+16G>C
|
rs10768683
|
0.82893
|
NM_000352.6(ABCC8):c.4105G>T (p.Ala1369Ser)
|
rs757110
|
0.71935
|
NM_000152.5(GAA):c.668G>A (p.Arg223His)
|
rs1042395
|
0.65662
|
NM_000492.4(CFTR):c.1408G>A (p.Val470Met)
|
rs213950
|
0.56732
|
NM_000053.4(ATP7B):c.3903+6C>T
|
rs2282057
|
0.53754
|
NM_000352.6(ABCC8):c.207T>C (p.Pro69=)
|
rs1048099
|
0.47531
|
NM_000492.4(CFTR):c.2562T>G (p.Thr854=)
|
rs1042077
|
0.44737
|
NM_000352.6(ABCC8):c.1686C>T (p.His562=)
|
rs1799857
|
0.44260
|
NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala)
|
rs1801243
|
0.41549
|
NM_000352.6(ABCC8):c.3819G>A (p.Arg1273=)
|
rs1799859
|
0.39734
|
NM_000527.5(LDLR):c.1959T>C (p.Val653=)
|
rs5925
|
0.37370
|
NM_000352.6(ABCC8):c.2117-3C>T
|
rs1799854
|
0.36733
|
NM_014363.6(SACS):c.9981T>C (p.Ala3327=)
|
rs2737700
|
0.36123
|
NM_000527.5(LDLR):c.1773C>T (p.Asn591=)
|
rs688
|
0.33392
|
NM_000492.4(CFTR):c.4389G>A (p.Gln1463=)
|
rs1800136
|
0.23407
|
NM_014363.6(SACS):c.6195T>C (p.Ile2065=)
|
rs4143768
|
0.21785
|
NM_014363.6(SACS):c.8853T>C (p.Val2951=)
|
rs9552929
|
0.21755
|
NM_014363.6(SACS):c.10106T>C (p.Val3369Ala)
|
rs17078605
|
0.21747
|
NM_014363.6(SACS):c.12304T>C (p.Leu4102=)
|
rs2737699
|
0.21736
|
NM_012144.4(DNAI1):c.1003G>A (p.Val335Ile)
|
rs11793196
|
0.20136
|
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser)
|
rs2071421
|
0.19530
|
NM_000352.6(ABCC8):c.1947G>A (p.Lys649=)
|
rs1799858
|
0.16150
|
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met)
|
rs4426527
|
0.15412
|
NM_000352.6(ABCC8):c.2485C>T (p.Leu829=)
|
rs1805036
|
0.14682
|
NM_024301.5(FKRP):c.135C>T (p.Ala45=)
|
rs2287717
|
0.14031
|
NM_014363.6(SACS):c.171+6C>T
|
rs3751368
|
0.13441
|
NM_000016.6(ACADM):c.-362T>C
|
rs1251076
|
0.12826
|
NM_001164508.2(NEB):c.11077-4G>T
|
rs878924060
|
0.11336
|
NM_001201543.2(FAM161A):c.1665G>A (p.Leu555=)
|
rs6545910
|
0.10308
|
NM_006118.4(HAX1):c.159T>C (p.Ser53=)
|
rs13796
|
0.09423
|
NM_001384474.1(LOXHD1):c.2175C>T (p.Asn725=)
|
rs2086005
|
0.09206
|
NM_014363.6(SACS):c.696T>A (p.Asn232Lys)
|
rs2031640
|
0.08558
|
NM_014363.6(SACS):c.1656A>G (p.Leu552=)
|
rs1536365
|
0.08543
|
NM_000091.5(COL4A3):c.1352A>G (p.His451Arg)
|
rs11677877
|
0.08050
|
NM_000091.5(COL4A3):c.1452G>A (p.Gly484=)
|
rs34019152
|
0.07474
|
NM_000492.4(CFTR):c.3870A>G (p.Pro1290=)
|
rs1800130
|
0.07467
|
NM_001384474.1(LOXHD1):c.4868A>G (p.Glu1623Gly)
|
rs12606417
|
0.06993
|
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu)
|
rs2227935
|
0.06742
|
NM_000352.6(ABCC8):c.330C>T (p.Ala110=)
|
rs8192695
|
0.06691
|
NM_002529.4(NTRK1):c.1806-4del
|
rs1799770
|
0.06316
|
NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg)
|
rs696723
|
0.06184
|
NM_020533.3(MCOLN1):c.966A>C (p.Arg322=)
|
rs61736600
|
0.06042
|
NM_001384474.1(LOXHD1):c.1087G>A (p.Val363Ile)
|
rs10163657
|
0.05881
|
NM_000135.4(FANCA):c.542C>T (p.Ala181Val)
|
rs17232246
|
0.04972
|
NM_000016.6(ACADM):c.-401G>A
|
rs114005461
|
0.04873
|
NM_014049.5(ACAD9):c.-44_-41dup
|
rs387906242
|
0.04863
|
NM_000260.4(MYO7A):c.5156A>G (p.Tyr1719Cys)
|
rs77625410
|
0.04825
|
NM_012203.2(GRHPR):c.734+9G>A
|
rs56401536
|
0.04769
|
NM_000487.6(ARSA):c.1493G>A (p.Arg498His)
|
rs6151428
|
0.04709
|
NM_130849.4(SLC39A4):c.1141A>G (p.Thr381Ala)
|
rs75920625
|
0.04681
|
NM_000016.6(ACADM):c.-142C>G
|
rs61124994
|
0.04520
|
NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly)
|
rs17154335
|
0.04399
|
NM_000492.4(CFTR):c.-8G>C
|
rs1800501
|
0.04368
|
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val)
|
rs35719359
|
0.04130
|
NM_130849.4(SLC39A4):c.63G>C (p.Thr21=)
|
rs13251676
|
0.04058
|
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_152419.3(HGSNAT):c.1567A>C (p.Lys523Gln)
|
rs73569592
|
0.03631
|
NM_031885.5(BBS2):c.1659+3A>G
|
rs6499838
|
0.03415
|
NM_000520.6(HEXA):c.1195A>G (p.Asn399Asp)
|
rs1800430
|
0.03370
|
NM_014363.6(SACS):c.909A>G (p.Ala303=)
|
rs41315020
|
0.03313
|
NM_018006.5(TRMU):c.1192C>T (p.Arg398Cys)
|
rs34152016
|
0.03308
|
NM_000070.3(CAPN3):c.1029+3A>G
|
rs28364442
|
0.03285
|
NM_004629.2(FANCG):c.1133C>T (p.Ser378Leu)
|
rs4986939
|
0.03269
|
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys)
|
rs35520756
|
0.03206
|
NM_000520.6(HEXA):c.9C>T (p.Ser3=)
|
rs1800428
|
0.03048
|
NM_000051.4(ATM):c.3403-15T>A
|
rs79701258
|
0.02975
|
NM_130849.4(SLC39A4):c.850G>A (p.Glu284Lys)
|
rs7823979
|
0.02971
|
NM_018006.5(TRMU):c.10T>G (p.Leu4Val)
|
rs114302881
|
0.02970
|
NM_013339.4(ALG6):c.391T>C (p.Tyr131His)
|
rs35383149
|
0.02935
|
NM_000277.3(PAH):c.707-7A>T
|
rs62508624
|
0.02868
|
NM_014363.6(SACS):c.1839G>A (p.Gln613=)
|
rs35840595
|
0.02863
|
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg)
|
rs7334118
|
0.02828
|
NM_130849.4(SLC39A4):c.251C>T (p.Pro84Leu)
|
rs117535951
|
0.02765
|
NM_012144.4(DNAI1):c.1460T>G (p.Val487Gly)
|
rs11999454
|
0.02757
|
NM_000352.6(ABCC8):c.2277C>T (p.Thr759=)
|
rs1801261
|
0.02724
|
NM_001142800.2(EYS):c.5977A>G (p.Thr1993Ala)
|
rs115066356
|
0.02657
|
NM_000360.4(TH):c.1401C>T (p.Asp467=)
|
rs3842724
|
0.02616
|
NM_014244.5(ADAMTS2):c.2480G>A (p.Arg827Gln)
|
rs35445112
|
0.02575
|
NM_001142800.2(EYS):c.2157C>T (p.Cys719=)
|
rs9453148
|
0.02573
|
NM_000051.4(ATM):c.1254A>G (p.Gln418=)
|
rs4987943
|
0.02542
|
NM_000466.3(PEX1):c.3439-14_3439-13del
|
rs150005994
|
0.02536
|
NM_000135.4(FANCA):c.3859G>A (p.Val1287Ile)
|
rs17227354
|
0.02526
|
NM_152618.3(BBS12):c.1381A>C (p.Asn461His)
|
rs10027479
|
0.02523
|
NM_000051.4(ATM):c.8786+8A>C
|
rs4986839
|
0.02488
|
NM_138694.4(PKHD1):c.1736C>T (p.Thr579Met)
|
rs45500692
|
0.02436
|
NM_014363.6(SACS):c.11032C>G (p.Pro3678Ala)
|
rs17078601
|
0.02418
|
NM_000151.4(G6PC1):c.432G>A (p.Pro144=)
|
rs161628
|
0.02402
|
NM_001384474.1(LOXHD1):c.2T>A (p.Met1Lys)
|
rs36024592
|
0.02382
|
NM_206933.4(USH2A):c.15377T>C (p.Ile5126Thr)
|
rs111033266
|
0.02380
|
NM_003060.4(SLC22A5):c.1645C>T (p.Pro549Ser)
|
rs11568525
|
0.02345
|
NM_003060.4(SLC22A5):c.430C>T (p.Leu144Phe)
|
rs10040427
|
0.02340
|
NM_213653.4(HJV):c.929C>G (p.Ala310Gly)
|
rs7540883
|
0.02277
|
NM_001378454.1(ALMS1):c.4962G>T (p.Lys1654Asn)
|
rs28730853
|
0.02251
|
NM_000414.4(HSD17B4):c.875C>G (p.Thr292Ser)
|
rs1143650
|
0.02248
|
NM_000135.4(FANCA):c.2151G>T (p.Met717Ile)
|
rs1131660
|
0.02234
|
NM_000152.5(GAA):c.271G>A (p.Asp91Asn)
|
rs1800299
|
0.02215
|
NM_000170.3(GLDC):c.671G>A (p.Arg224His)
|
rs28617412
|
0.02214
|
NM_003227.4(TFR2):c.2255G>A (p.Arg752His)
|
rs41295942
|
0.02204
|
NM_003640.5(ELP1):c.934G>A (p.Glu312Lys)
|
rs1140064
|
0.02197
|
NM_000182.5(HADHA):c.1072C>A (p.Gln358Lys)
|
rs2229420
|
0.02193
|
NM_005373.3(MPL):c.340G>A (p.Val114Met)
|
rs12731981
|
0.02191
|
NM_000051.4(ATM):c.5497-8T>C
|
rs3092829
|
0.02183
|
NM_000260.4(MYO7A):c.4023C>T (p.Pro1341=)
|
rs73495790
|
0.02130
|
NM_001142800.2(EYS):c.2739G>A (p.Arg913=)
|
rs77020971
|
0.02117
|
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln)
|
rs3743930
|
0.02112
|
NM_000303.3(PMM2):c.590A>C (p.Glu197Ala)
|
rs34258285
|
0.02088
|
NM_133259.4(LRPPRC):c.1888C>T (p.Leu630=)
|
rs35881858
|
0.02080
|
NM_000441.2(SLC26A4):c.2130C>T (p.Asp710=)
|
rs17154347
|
0.02079
|
NM_012144.4(DNAI1):c.378A>G (p.Glu126=)
|
rs3818577
|
0.02063
|
NM_000091.5(COL4A3):c.2715C>T (p.Pro905=)
|
rs75519005
|
0.01995
|
NM_012434.5(SLC17A5):c.1111+7G>A
|
rs146729568
|
0.01982
|
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg)
|
rs11934801
|
0.01974
|
NM_001142800.2(EYS):c.2733T>C (p.Asn911=)
|
rs75634595
|
0.01917
|
NM_003640.5(ELP1):c.959-15C>T
|
rs112114410
|
0.01906
|
NM_000051.4(ATM):c.1541G>A (p.Gly514Asp)
|
rs2235000
|
0.01889
|
NM_000260.4(MYO7A):c.2035G>A (p.Val679Ile)
|
rs35641839
|
0.01879
|
NM_003640.5(ELP1):c.189C>T (p.Leu63=)
|
rs2230786
|
0.01873
|
NM_000135.4(FANCA):c.755A>G (p.Asp252Gly)
|
rs17225943
|
0.01851
|
NM_138694.4(PKHD1):c.9577G>A (p.Val3193Ile)
|
rs35445653
|
0.01835
|
NM_000070.3(CAPN3):c.78G>A (p.Pro26=)
|
rs62642519
|
0.01774
|
NM_000642.3(AGL):c.1155G>T (p.Lys385Asn)
|
rs28730701
|
0.01764
|
NM_000260.4(MYO7A):c.5619G>A (p.Arg1873=)
|
rs45450893
|
0.01749
|
NM_001384474.1(LOXHD1):c.2370C>T (p.Asp790=)
|
rs34723936
|
0.01692
|
NM_005476.7(GNE):c.1770C>T (p.Tyr590=)
|
rs111302956
|
0.01688
|
NM_000271.5(NPC1):c.1503C>T (p.Asp501=)
|
rs116046557
|
0.01665
|
NM_000092.5(COL4A4):c.3486A>G (p.Pro1162=)
|
rs2229815
|
0.01659
|
NM_000784.4(CYP27A1):c.888A>G (p.Gln296=)
|
rs61733619
|
0.01643
|
NM_003640.5(ELP1):c.751A>G (p.Ser251Gly)
|
rs17853166
|
0.01640
|
NM_000092.5(COL4A4):c.2008G>A (p.Val670Ile)
|
rs34236495
|
0.01622
|
NM_003640.5(ELP1):c.2587+14C>T
|
rs141670242
|
0.01614
|
NM_000092.5(COL4A4):c.2439A>T (p.Gly813=)
|
rs34835657
|
0.01612
|
NM_004004.6(GJB2):c.-15C>T
|
rs72561725
|
0.01589
|
NM_033056.4(PCDH15):c.5359C>T (p.Pro1787Ser)
|
rs61862390
|
0.01583
|
NM_000277.3(PAH):c.963C>T (p.Leu321=)
|
rs61747292
|
0.01582
|
NM_000092.5(COL4A4):c.1323T>C (p.Pro441=)
|
rs35830639
|
0.01576
|
NM_000070.3(CAPN3):c.479C>G (p.Ala160Gly)
|
rs17592
|
0.01574
|
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser)
|
rs35034250
|
0.01555
|
NM_000051.4(ATM):c.1636C>G (p.Leu546Val)
|
rs2227924
|
0.01541
|
NM_000202.8(IDS):c.641C>T (p.Thr214Met)
|
rs61736892
|
0.01492
|
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu)
|
rs41272687
|
0.01478
|
NM_206933.4(USH2A):c.2109T>C (p.Asp703=)
|
rs45555435
|
0.01476
|
NM_000098.3(CPT2):c.1055T>G (p.Phe352Cys)
|
rs2229291
|
0.01469
|
NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser)
|
rs17154353
|
0.01449
|
NM_005373.3(MPL):c.117G>T (p.Lys39Asn)
|
rs17292650
|
0.01420
|
NM_014363.6(SACS):c.7149C>T (p.Arg2383=)
|
rs17078608
|
0.01409
|
NM_000051.4(ATM):c.2614C>T (p.Pro872Ser)
|
rs3218673
|
0.01393
|
NM_206933.4(USH2A):c.15091C>T (p.Arg5031Trp)
|
rs56038610
|
0.01377
|
NM_153006.3(NAGS):c.182A>G (p.Glu61Gly)
|
rs113134544
|
0.01375
|
NM_001164508.2(NEB):c.195G>A (p.Pro65=)
|
rs79524813
|
0.01367
|
NM_000282.4(PCCA):c.1429+7A>G
|
rs16957276
|
0.01356
|
NM_012434.5(SLC17A5):c.886G>A (p.Val296Ile)
|
rs16883930
|
0.01342
|
NM_000352.6(ABCC8):c.4120-19C>T
|
rs1800853
|
0.01325
|
NM_000498.3(CYP11B2):c.606A>G (p.Leu202=)
|
rs113284476
|
0.01323
|
NM_206933.4(USH2A):c.11677C>A (p.Pro3893Thr)
|
rs41303285
|
0.01316
|
NM_206933.4(USH2A):c.1434G>C (p.Glu478Asp)
|
rs35730265
|
0.01315
|
NM_000466.3(PEX1):c.1671-7T>C
|
rs74519968
|
0.01312
|
NM_020320.5(RARS2):c.63A>G (p.Pro21=)
|
rs7748563
|
0.01309
|
NM_000352.6(ABCC8):c.3329+6C>T
|
rs113873225
|
0.01304
|
NM_013339.4(ALG6):c.1357C>G (p.Leu453Val)
|
rs41285372
|
0.01295
|
NM_000352.6(ABCC8):c.2041-28C>T
|
rs116419577
|
0.01293
|
NM_024312.5(GNPTAB):c.1042A>C (p.Ile348Leu)
|
rs7958709
|
0.01289
|
NM_138694.4(PKHD1):c.1234-5C>T
|
rs116124750
|
0.01262
|
NM_001142800.2(EYS):c.-459C>T
|
rs144371265
|
0.01261
|
NM_000092.5(COL4A4):c.2791G>A (p.Ala931Thr)
|
rs75875272
|
0.01243
|
NM_012203.2(GRHPR):c.509G>A (p.Arg170Gln)
|
rs12002324
|
0.01219
|
NM_001003722.2(GLE1):c.1000G>A (p.Glu334Lys)
|
rs138310419
|
0.01201
|
NM_001384474.1(LOXHD1):c.2080G>T (p.Asp694Tyr)
|
rs35727744
|
0.01194
|
NM_000070.3(CAPN3):c.62G>A (p.Gly21Glu)
|
rs28364364
|
0.01193
|
NM_001370658.1(BTD):c.820A>G (p.Ile274Val)
|
rs35976361
|
0.01187
|
NM_138694.4(PKHD1):c.10585G>C (p.Glu3529Gln)
|
rs145184792
|
0.01187
|
NM_000092.5(COL4A4):c.2717-5A>T
|
rs1800519
|
0.01182
|
NM_000352.6(ABCC8):c.4728C>T (p.Phe1576=)
|
rs73419228
|
0.01181
|
NM_000383.4(AIRE):c.1411C>T (p.Arg471Cys)
|
rs74203920
|
0.01176
|
NM_004268.5(MED17):c.1482A>G (p.Gln494=)
|
rs34380494
|
0.01172
|
NM_001142800.2(EYS):c.777G>A (p.Gln259=)
|
rs78079047
|
0.01169
|
NM_138694.4(PKHD1):c.11878G>A (p.Val3960Ile)
|
rs34548196
|
0.01161
|
NM_000053.4(ATP7B):c.4302G>A (p.Thr1434=)
|
rs116091486
|
0.01159
|
NM_000352.6(ABCC8):c.1333-1032G>A
|
rs11821525
|
0.01157
|
NM_000070.3(CAPN3):c.2433T>C (p.Val811=)
|
rs28364543
|
0.01154
|
NM_000359.3(TGM1):c.1552G>A (p.Val518Met)
|
rs35312232
|
0.01146
|
NM_000070.3(CAPN3):c.1116-5A>G
|
rs28364467
|
0.01144
|
NM_000203.5(IDUA):c.1174C>T (p.Leu392=)
|
rs201682298
|
0.01139
|
NM_000071.3(CBS):c.304A>C (p.Lys102Gln)
|
rs34040148
|
0.01138
|
NM_153676.4(USH1C):c.819+10G>C
|
rs41282936
|
0.01105
|
NM_001360.3(DHCR7):c.570C>T (p.Ala190=)
|
rs74909468
|
0.01097
|
NM_000051.4(ATM):c.735C>T (p.Val245=)
|
rs3218674
|
0.01085
|
NM_002225.5(IVD):c.-48G>A
|
rs114259808
|
0.01080
|
NM_001126108.2(SLC12A3):c.2182G>A (p.Ala728Thr)
|
rs36049418
|
0.01075
|
NM_000053.4(ATP7B):c.3891C>T (p.Val1297=)
|
rs114771537
|
0.01071
|
NM_178138.6(LHX3):c.108G>A (p.Gln36=)
|
rs33998096
|
0.01071
|
NM_138694.4(PKHD1):c.3686G>C (p.Trp1229Ser)
|
rs2499481
|
0.01066
|
NM_000441.2(SLC26A4):c.970A>T (p.Asn324Tyr)
|
rs36039758
|
0.01056
|
NM_033159.4(HYAL1):c.270G>C (p.Glu90Asp)
|
rs74342080
|
0.01054
|
NM_138694.4(PKHD1):c.8606C>A (p.Thr2869Lys)
|
rs142522748
|
0.01047
|
NM_000360.4(TH):c.1200+9C>T
|
rs11564717
|
0.01045
|
NM_000383.4(AIRE):c.755C>T (p.Pro252Leu)
|
rs34397615
|
0.01042
|
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg)
|
rs34885143
|
0.01036
|
NM_000046.5(ARSB):c.98C>T (p.Ala33Val)
|
rs201168448
|
0.01022
|
NM_000243.3(MEFV):c.1772T>C (p.Ile591Thr)
|
rs11466045
|
0.01021
|
NM_024312.5(GNPTAB):c.136C>A (p.Arg46=)
|
rs78347057
|
0.01017
|
NM_000352.6(ABCC8):c.423G>A (p.Val141=)
|
rs116132921
|
0.01009
|
NM_000441.2(SLC26A4):c.1002-9A>C
|
rs10234822
|
0.01002
|
NM_000487.6(ARSA):c.624T>C (p.His208=)
|
rs113990230
|
0.01000
|
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn)
|
rs74374973
|
0.00994
|
NM_001360.3(DHCR7):c.99-4G>A
|
rs140748737
|
0.00988
|
NM_014363.6(SACS):c.10305T>C (p.Ser3435=)
|
rs35670472
|
0.00986
|
NM_001360.3(DHCR7):c.25A>T (p.Ile9Phe)
|
rs115595829
|
0.00983
|
NM_000391.4(TPP1):c.1044C>T (p.Ala348=)
|
rs35706972
|
0.00982
|
NM_014363.6(SACS):c.12762C>T (p.Ser4254=)
|
rs11554397
|
0.00978
|
NM_000237.3(LPL):c.1279G>A (p.Ala427Thr)
|
rs5934
|
0.00972
|
NM_000521.4(HEXB):c.449C>A (p.Thr150Asn)
|
rs148268937
|
0.00967
|
NM_206933.4(USH2A):c.13763C>A (p.Ser4588Tyr)
|
rs78253373
|
0.00962
|
NM_001384474.1(LOXHD1):c.1742T>C (p.Val581Ala)
|
rs35007621
|
0.00961
|
NM_001164508.2(NEB):c.21044C>G (p.Ser7015Cys)
|
rs62167164
|
0.00935
|
NM_000018.4(ACADVL):c.623-8C>T
|
rs144996066
|
0.00919
|
NM_138694.4(PKHD1):c.888A>T (p.Pro296=)
|
rs76012218
|
0.00916
|
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys)
|
rs138611001
|
0.00910
|
NM_000391.4(TPP1):c.1494C>T (p.Pro498=)
|
rs117942457
|
0.00902
|
NM_024996.7(GFM1):c.127A>G (p.Asn43Asp)
|
rs35942089
|
0.00900
|
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg)
|
rs1800746
|
0.00889
|
NM_000070.3(CAPN3):c.73C>T (p.His25Tyr)
|
rs61735534
|
0.00885
|
NM_000169.2(GLA):c.-30G>A
|
rs3027584
|
0.00873
|
NM_012203.2(GRHPR):c.493+9C>T
|
rs41303225
|
0.00873
|
NM_004035.7(ACOX1):c.921G>A (p.Arg307=)
|
rs79677613
|
0.00869
|
NM_000243.3(MEFV):c.2118G>A (p.Pro706=)
|
rs2234939
|
0.00864
|
NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln)
|
rs17885240
|
0.00863
|
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu)
|
rs1800056
|
0.00861
|
NM_001164508.2(NEB):c.6159G>A (p.Lys2053=)
|
rs140186806
|
0.00856
|
NM_001365088.1(SLC12A6):c.408T>C (p.Phe136=)
|
rs145186782
|
0.00836
|
NM_005373.3(MPL):c.543T>C (p.Gly181=)
|
rs17572791
|
0.00819
|
NM_033305.3(VPS13A):c.9370C>A (p.His3124Asn)
|
rs117983287
|
0.00817
|
NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp)
|
rs35799469
|
0.00804
|
NM_003640.5(ELP1):c.1758T>G (p.Pro586=)
|
rs35054425
|
0.00792
|
NM_013339.4(ALG6):c.1323T>C (p.Tyr441=)
|
rs116660078
|
0.00791
|
NM_153676.4(USH1C):c.2499C>T (p.Ile833=)
|
rs34581703
|
0.00789
|
NM_138694.4(PKHD1):c.7110-7T>A
|
rs113034899
|
0.00770
|
NM_206933.4(USH2A):c.6240G>T (p.Lys2080Asn)
|
rs114402911
|
0.00770
|
NM_138694.4(PKHD1):c.4035C>A (p.Gly1345=)
|
rs140791735
|
0.00769
|
NM_000255.4(MMUT):c.-39-26T>A
|
rs144458425
|
0.00764
|
NM_001386140.1(MTTP):c.502G>A (p.Val168Ile)
|
rs61750974
|
0.00763
|
NM_001201543.2(FAM161A):c.423-7C>T
|
rs144455077
|
0.00755
|
NM_015702.3(MMADHC):c.87A>C (p.Lys29Asn)
|
rs61750442
|
0.00751
|
NM_000260.4(MYO7A):c.3246G>A (p.Thr1082=)
|
rs35963362
|
0.00745
|
NM_000642.3(AGL):c.1481G>A (p.Arg494His)
|
rs141043166
|
0.00743
|
NM_000260.4(MYO7A):c.5215C>A (p.Arg1739=)
|
rs111033477
|
0.00740
|
NM_001142800.2(EYS):c.1596A>C (p.Lys532Asn)
|
rs61753611
|
0.00740
|
NM_000481.4(AMT):c.631G>A (p.Glu211Lys)
|
rs116192290
|
0.00735
|
NM_000053.4(ATP7B):c.4311G>A (p.Lys1437=)
|
rs73202048
|
0.00732
|
NM_000170.3(GLDC):c.2380G>A (p.Ala794Thr)
|
rs141933811
|
0.00728
|
NM_138694.4(PKHD1):c.10515C>A (p.Ser3505Arg)
|
rs139014478
|
0.00721
|
NM_000030.3(AGXT):c.26C>A (p.Thr9Asn)
|
rs115014558
|
0.00719
|
NM_001384474.1(LOXHD1):c.1028G>A (p.Arg343His)
|
rs183531840
|
0.00717
|
NM_000051.4(ATM):c.146C>G (p.Ser49Cys)
|
rs1800054
|
0.00712
|
NM_000271.5(NPC1):c.2661G>A (p.Pro887=)
|
rs9949660
|
0.00711
|
NM_000360.4(TH):c.684G>A (p.Glu228=)
|
rs11564716
|
0.00706
|
NM_001201543.2(FAM161A):c.906A>G (p.Gln302=)
|
rs76110744
|
0.00702
|
NM_138694.4(PKHD1):c.8521A>G (p.Met2841Val)
|
rs113562492
|
0.00702
|
NM_001384140.1(PCDH15):c.4024C>A (p.Gln1342Lys)
|
rs61731387
|
0.00699
|
NM_014363.6(SACS):c.4188C>T (p.His1396=)
|
rs61754477
|
0.00688
|
NM_014363.6(SACS):c.6267G>A (p.Ser2089=)
|
rs9550956
|
0.00688
|
NM_000092.5(COL4A4):c.198A>G (p.Pro66=)
|
rs147947155
|
0.00681
|
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg)
|
rs115045643
|
0.00681
|
NM_000153.4(GALC):c.1302C>T (p.Ser434=)
|
rs3213918
|
0.00674
|
NM_001164508.2(NEB):c.6069G>A (p.Met2023Ile)
|
rs184262608
|
0.00672
|
NM_004035.7(ACOX1):c.80C>T (p.Pro27Leu)
|
rs145082938
|
0.00672
|
NM_033305.3(VPS13A):c.8676C>T (p.Ile2892=)
|
rs117485827
|
0.00672
|
NM_000170.3(GLDC):c.52G>T (p.Gly18Cys)
|
rs535143891
|
0.00670
|
NM_004629.2(FANCG):c.988C>T (p.Pro330Ser)
|
rs4986940
|
0.00670
|
NM_000441.2(SLC26A4):c.15C>A (p.Gly5=)
|
rs7811324
|
0.00669
|
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser)
|
rs45439799
|
0.00663
|
NM_000492.4(CFTR):c.4272C>T (p.Tyr1424=)
|
rs1800135
|
0.00660
|
NM_000170.3(GLDC):c.2203G>T (p.Val735Leu)
|
rs143119940
|
0.00650
|
NM_000051.4(ATM):c.6235G>A (p.Val2079Ile)
|
rs1800060
|
0.00649
|
NM_152564.5(VPS13B):c.10049C>T (p.Thr3350Ile)
|
rs138127778
|
0.00637
|
NM_000051.4(ATM):c.3383A>G (p.Gln1128Arg)
|
rs2229020
|
0.00636
|
NM_000053.4(ATP7B):c.-54G>T
|
rs115564351
|
0.00634
|
NM_152419.3(HGSNAT):c.1693G>C (p.Gly565Arg)
|
rs148632988
|
0.00633
|
NM_138694.4(PKHD1):c.4343A>G (p.Glu1448Gly)
|
rs116809571
|
0.00632
|
NM_000543.5(SMPD1):c.1625G>A (p.Arg542Gln)
|
rs113467489
|
0.00629
|
NM_000282.4(PCCA):c.1846-9G>T
|
rs141118743
|
0.00627
|
NM_000071.3(CBS):c.1145+7C>T
|
rs201158177
|
0.00620
|
NM_000260.4(MYO7A):c.4461C>T (p.Asn1487=)
|
rs56174006
|
0.00618
|
NM_000260.4(MYO7A):c.3042G>T (p.Thr1014=)
|
rs111033507
|
0.00617
|
NM_001875.5(CPS1):c.449G>A (p.Gly150Glu)
|
rs114819130
|
0.00617
|
NM_012144.4(DNAI1):c.179C>T (p.Ala60Val)
|
rs16931549
|
0.00609
|
NM_000051.4(ATM):c.5793T>C (p.Ala1931=)
|
rs3092910
|
0.00608
|
NM_152564.5(VPS13B):c.9349A>G (p.Ser3117Gly)
|
rs113671330
|
0.00608
|
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe)
|
rs61749895
|
0.00606
|
NM_032520.5(GNPTG):c.255G>A (p.Pro85=)
|
rs76594024
|
0.00606
|
NM_000498.3(CYP11B2):c.825C>T (p.Tyr275=)
|
rs5310
|
0.00605
|
NM_000070.3(CAPN3):c.984C>T (p.Cys328=)
|
rs28364441
|
0.00600
|
NM_000521.4(HEXB):c.1051T>C (p.Leu351=)
|
rs114661695
|
0.00596
|
NM_002529.4(NTRK1):c.2272G>A (p.Ala758Thr)
|
rs62640939
|
0.00591
|
NM_016277.5(RAB23):c.301T>G (p.Ser101Ala)
|
rs45479896
|
0.00589
|
NM_001352514.2(HLCS):c.726C>T (p.Pro242=)
|
rs2230182
|
0.00587
|
NM_206933.4(USH2A):c.7685T>C (p.Val2562Ala)
|
rs56385601
|
0.00586
|
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg)
|
rs142645936
|
0.00585
|
NM_000170.3(GLDC):c.871T>G (p.Cys291Gly)
|
rs141014950
|
0.00580
|
NM_001130987.2(DYSF):c.1216G>C (p.Val406Leu)
|
rs150724610
|
0.00580
|
NM_002435.3(MPI):c.982C>T (p.Arg328Trp)
|
rs117089191
|
0.00577
|
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr)
|
rs138036823
|
0.00577
|
NM_012144.4(DNAI1):c.1604C>A (p.Thr535Asn)
|
rs76334696
|
0.00575
|
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg)
|
rs34911792
|
0.00573
|
NM_000543.5(SMPD1):c.1071C>T (p.Ala357=)
|
rs72896268
|
0.00571
|
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr)
|
rs111033282
|
0.00569
|
NM_000051.4(ATM):c.186-7C>T
|
rs55674039
|
0.00568
|
NM_001378454.1(ALMS1):c.10272G>C (p.Lys3424Asn)
|
rs34398445
|
0.00566
|
NM_002529.4(NTRK1):c.1728C>T (p.Phe576=)
|
rs6335
|
0.00563
|
NM_000018.4(ACADVL):c.636C>T (p.Ala212=)
|
rs76547988
|
0.00560
|
NM_000260.4(MYO7A):c.4074C>T (p.Ser1358=)
|
rs78996818
|
0.00559
|
NM_000784.4(CYP27A1):c.921G>A (p.Val307=)
|
rs147975335
|
0.00559
|
NM_005709.4(USH1C):c.1266G>A (p.Thr422=)
|
rs35188020
|
0.00558
|
NM_001126108.2(SLC12A3):c.2857-6G>A
|
rs117981500
|
0.00557
|
NM_000359.3(TGM1):c.1559A>G (p.Glu520Gly)
|
rs142404759
|
0.00555
|
NM_138694.4(PKHD1):c.5725C>T (p.Arg1909Trp)
|
rs115338476
|
0.00551
|
NM_001164508.2(NEB):c.5905T>C (p.Tyr1969His)
|
rs34532796
|
0.00550
|
NM_001164508.2(NEB):c.5802C>T (p.Gly1934=)
|
rs139963368
|
0.00547
|
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser)
|
rs55638457
|
0.00545
|
NM_000057.4(BLM):c.2075-12G>T
|
rs28385027
|
0.00541
|
NM_017890.5(VPS13B):c.4197T>C (p.Gly1399=)
|
rs149796549
|
0.00535
|
NM_000532.5(PCCB):c.546G>A (p.Arg182=)
|
rs61598773
|
0.00533
|
NM_001126108.2(SLC12A3):c.774C>T (p.Asn258=)
|
rs111578437
|
0.00523
|
NM_000137.4(FAH):c.315-14G>A
|
rs139830755
|
0.00521
|
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser)
|
rs147099630
|
0.00521
|
NM_138694.4(PKHD1):c.9829+10T>G
|
rs143526199
|
0.00518
|
NM_000051.4(ATM):c.6088A>G (p.Ile2030Val)
|
rs145847315
|
0.00517
|
NM_001164508.2(NEB):c.17049G>T (p.Ala5683=)
|
rs140688592
|
0.00517
|
NM_000642.3(AGL):c.3758G>A (p.Arg1253His)
|
rs12043139
|
0.00515
|
NM_001378454.1(ALMS1):c.6752A>G (p.Asp2251Gly)
|
rs28730855
|
0.00515
|
NM_000260.4(MYO7A):c.4697C>T (p.Thr1566Met)
|
rs41298747
|
0.00512
|
NM_152564.5(VPS13B):c.9592C>T (p.Arg3198Trp)
|
rs149842139
|
0.00511
|
NM_152618.3(BBS12):c.1103G>A (p.Arg368His)
|
rs78457123
|
0.00511
|
NM_000525.4(KCNJ11):c.108G>A (p.Val36=)
|
rs112070496
|
0.00509
|
NM_024312.5(GNPTAB):c.137G>A (p.Arg46Gln)
|
rs117566084
|
0.00508
|
NM_001384474.1(LOXHD1):c.1843C>A (p.Arg615=)
|
rs112463030
|
0.00507
|
NM_001876.4(CPT1A):c.863G>A (p.Arg288Gln)
|
rs140958507
|
0.00501
|
NM_000052.7(ATP7A):c.4201G>C (p.Val1401Leu)
|
rs5959130
|
0.00500
|
NM_000543.5(SMPD1):c.813T>C (p.Pro271=)
|
rs61876771
|
0.00500
|
NM_000352.6(ABCC8):c.4542C>A (p.Ala1514=)
|
rs113282901
|
0.00497
|
NM_000277.3(PAH):c.820A>G (p.Lys274Glu)
|
rs142934616
|
0.00496
|
NM_000359.3(TGM1):c.365C>T (p.Ser122Leu)
|
rs141486741
|
0.00492
|
NM_000492.4(CFTR):c.1581A>G (p.Glu527=)
|
rs1800094
|
0.00491
|
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val)
|
rs121908954
|
0.00491
|
NM_005373.3(MPL):c.1565+5C>T
|
rs41269541
|
0.00488
|
NM_033305.3(VPS13A):c.5979C>T (p.Arg1993=)
|
rs41289971
|
0.00487
|
NM_000255.4(MMUT):c.1629C>T (p.Ser543=)
|
rs150642856
|
0.00479
|
NM_018006.5(TRMU):c.387A>G (p.Ala129=)
|
rs144586525
|
0.00478
|
NM_025136.4(OPA3):c.412G>A (p.Ala138Thr)
|
rs201574732
|
0.00477
|
NM_152419.3(HGSNAT):c.1250+7G>A
|
rs74795999
|
0.00475
|
NM_012203.2(GRHPR):c.962C>T (p.Pro321Leu)
|
rs142356700
|
0.00474
|
NM_006019.4(TCIRG1):c.1515C>T (p.Thr505=)
|
rs34211419
|
0.00473
|
NM_001360.3(DHCR7):c.549C>T (p.Cys183=)
|
rs115446684
|
0.00470
|
NM_024649.5(BBS1):c.1020C>G (p.Ser340=)
|
rs35209408
|
0.00470
|
NM_000263.4(NAGLU):c.675G>T (p.Leu225=)
|
rs115680529
|
0.00469
|
NM_130849.4(SLC39A4):c.948C>T (p.Pro316=)
|
rs60615103
|
0.00469
|
NM_000271.5(NPC1):c.2073G>A (p.Pro691=)
|
rs113013085
|
0.00465
|
NM_000170.3(GLDC):c.1707+8G>A
|
rs144666843
|
0.00464
|
NM_000360.4(TH):c.16G>A (p.Ala6Thr)
|
rs74555599
|
0.00462
|
NM_000108.5(DLD):c.543A>T (p.Ile181=)
|
rs61749952
|
0.00461
|
NM_000391.4(TPP1):c.1253G>A (p.Arg418Gln)
|
rs138744051
|
0.00456
|
NM_004646.4(NPHS1):c.43G>C (p.Gly15Arg)
|
rs73928330
|
0.00456
|
NM_000098.3(CPT2):c.1578T>C (p.Gly526=)
|
rs113493395
|
0.00455
|
NM_000263.4(NAGLU):c.1788C>T (p.Gly596=)
|
rs115166595
|
0.00455
|
NM_000159.4(GCDH):c.1085C>A (p.Ala362Asp)
|
rs114759170
|
0.00453
|
NM_014363.6(SACS):c.12597A>G (p.Pro4199=)
|
rs112630127
|
0.00451
|
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg)
|
rs61759485
|
0.00451
|
NM_153717.3(EVC):c.469C>G (p.Pro157Ala)
|
rs146729456
|
0.00451
|
NM_000441.2(SLC26A4):c.898A>C (p.Ile300Leu)
|
rs111033304
|
0.00450
|
NM_014363.6(SACS):c.11688G>A (p.Arg3896=)
|
rs116791509
|
0.00448
|
NM_024312.5(GNPTAB):c.1626A>G (p.Glu542=)
|
rs61745799
|
0.00448
|
NM_001360.3(DHCR7):c.1008C>T (p.His336=)
|
rs75225632
|
0.00447
|
NM_005609.4(PYGM):c.2009C>T (p.Ala670Val)
|
rs113806080
|
0.00446
|
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val)
|
rs1801673
|
0.00441
|
NM_001033855.3(DCLRE1C):c.1893C>T (p.Pro631=)
|
rs41300676
|
0.00441
|
NM_000359.3(TGM1):c.168G>A (p.Ala56=)
|
rs79251149
|
0.00439
|
NM_152618.3(BBS12):c.355G>A (p.Gly119Ser)
|
rs77731085
|
0.00439
|
NM_000057.4(BLM):c.4076+4T>G
|
rs183176301
|
0.00436
|
NM_012434.5(SLC17A5):c.820-3C>T
|
rs12201641
|
0.00436
|
NM_000352.6(ABCC8):c.354C>T (p.Val118=)
|
rs137873871
|
0.00434
|
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser)
|
rs2227922
|
0.00431
|
NM_000053.4(ATP7B):c.3101A>G (p.His1034Arg)
|
rs74085882
|
0.00430
|
NM_001378454.1(ALMS1):c.7268A>G (p.Asn2423Ser)
|
rs75145370
|
0.00429
|
NM_014244.5(ADAMTS2):c.1458C>T (p.Tyr486=)
|
rs61757478
|
0.00427
|
NM_001164508.2(NEB):c.1856A>G (p.Lys619Arg)
|
rs147305883
|
0.00426
|
NM_000094.4(COL7A1):c.1907G>T (p.Gly636Val)
|
rs116005007
|
0.00425
|
NM_000051.4(ATM):c.6437G>C (p.Ser2146Thr)
|
rs56815840
|
0.00424
|
NM_001875.5(CPS1):c.3481-8C>T
|
rs41272669
|
0.00424
|
NM_206933.4(USH2A):c.2546G>A (p.Cys849Tyr)
|
rs111033481
|
0.00424
|
NM_015166.4(MLC1):c.279G>A (p.Ser93=)
|
rs11568172
|
0.00422
|
NM_000359.3(TGM1):c.1113C>T (p.Ser371=)
|
rs61747601
|
0.00421
|
NM_001127671.2(LIFR):c.954C>T (p.Thr318=)
|
rs61748202
|
0.00421
|
NM_000092.5(COL4A4):c.4082-8C>T
|
rs139571413
|
0.00420
|
NM_000271.5(NPC1):c.882-40T>A
|
rs144469784
|
0.00420
|
NM_000382.3(ALDH3A2):c.1270C>T (p.Pro424Ser)
|
rs61737992
|
0.00419
|
NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg)
|
rs45549044
|
0.00419
|
NM_033380.3(COL4A5):c.1289C>A (p.Ala430Asp)
|
rs142883891
|
0.00418
|
NM_033305.3(VPS13A):c.2037+8C>A
|
rs41289961
|
0.00417
|
NM_000027.4(AGA):c.965C>T (p.Thr322Ile)
|
rs56849061
|
0.00414
|
NM_000520.6(HEXA):c.759G>A (p.Val253=)
|
rs117513345
|
0.00412
|
NM_152564.5(VPS13B):c.7152G>A (p.Pro2384=)
|
rs61753725
|
0.00412
|
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu)
|
rs34997054
|
0.00411
|
NM_000260.4(MYO7A):c.5835C>T (p.Leu1945=)
|
rs111033476
|
0.00408
|
NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr)
|
rs45503297
|
0.00407
|
NM_004035.7(ACOX1):c.954A>G (p.Glu318=)
|
rs16968343
|
0.00404
|
NM_001384140.1(PCDH15):c.2625G>A (p.Ser875=)
|
rs111033516
|
0.00401
|
NM_006432.5(NPC2):c.441+1G>A
|
rs140130028
|
0.00399
|
NM_024996.7(GFM1):c.1593C>T (p.Ala531=)
|
rs114754676
|
0.00399
|
NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys)
|
rs149694033
|
0.00397
|
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser)
|
rs28940272
|
0.00396
|
NM_001164508.2(NEB):c.1981C>T (p.Leu661=)
|
rs146460133
|
0.00395
|
NM_206933.4(USH2A):c.8458G>A (p.Val2820Ile)
|
rs59174500
|
0.00394
|
NM_001164508.2(NEB):c.17747A>G (p.Lys5916Arg)
|
rs73967567
|
0.00393
|
NM_000018.4(ACADVL):c.308A>G (p.Lys103Arg)
|
rs140566084
|
0.00391
|
NM_014844.5(TECPR2):c.3275C>T (p.Ser1092Leu)
|
rs72700618
|
0.00388
|
NM_000352.6(ABCC8):c.2958G>A (p.Ser986=)
|
rs58820146
|
0.00381
|
NM_001201543.2(FAM161A):c.197C>T (p.Thr66Ile)
|
rs145199539
|
0.00372
|
NM_000352.6(ABCC8):c.2556+30C>T
|
rs76285388
|
0.00367
|
NM_138413.4(HOGA1):c.700+7C>T
|
rs57616820
|
0.00367
|
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp)
|
rs17227403
|
0.00362
|
NM_001384474.1(LOXHD1):c.1945G>A (p.Asp649Asn)
|
rs141932807
|
0.00362
|
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr)
|
rs112029032
|
0.00361
|
NM_000027.4(AGA):c.902T>C (p.Phe301Ser)
|
rs35916166
|
0.00360
|
NM_000360.4(TH):c.267G>A (p.Arg89=)
|
rs76240471
|
0.00359
|
NM_024301.5(FKRP):c.427C>A (p.Arg143Ser)
|
rs148206382
|
0.00359
|
NM_000487.6(ARSA):c.1002C>T (p.Ser334=)
|
rs147027229
|
0.00358
|
NM_000531.6(OTC):c.-366A>G
|
rs191615506
|
0.00354
|
NM_001164508.2(NEB):c.19056G>T (p.Thr6352=)
|
rs115631125
|
0.00354
|
NM_000271.5(NPC1):c.2882A>G (p.Asn961Ser)
|
rs34084984
|
0.00352
|
NM_000271.5(NPC1):c.3441C>T (p.Ile1147=)
|
rs116436235
|
0.00352
|
NM_000414.4(HSD17B4):c.666C>G (p.Val222=)
|
rs150677536
|
0.00351
|
NM_206933.4(USH2A):c.15076A>G (p.Lys5026Glu)
|
rs41308435
|
0.00346
|
NM_000094.4(COL7A1):c.54G>C (p.Ala18=)
|
rs35899847
|
0.00343
|
NM_000092.5(COL4A4):c.50A>G (p.Lys17Arg)
|
rs114969026
|
0.00341
|
NM_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly)
|
rs150925674
|
0.00340
|
NM_033305.3(VPS13A):c.101-7T>C
|
rs190684534
|
0.00338
|
NM_000135.4(FANCA):c.932T>C (p.Ile311Thr)
|
rs75501942
|
0.00334
|
NM_001142800.2(EYS):c.5510G>C (p.Trp1837Ser)
|
rs199689193
|
0.00333
|
NM_004629.2(FANCG):c.238C>T (p.Leu80=)
|
rs115131067
|
0.00330
|
NM_001164508.2(NEB):c.3826C>A (p.Pro1276Thr)
|
rs34234609
|
0.00327
|
NM_014244.5(ADAMTS2):c.2751-4G>A
|
rs112155474
|
0.00324
|
NM_001017420.3(ESCO2):c.1076A>C (p.Gln359Pro)
|
rs57479434
|
0.00323
|
NM_000243.3(MEFV):c.1759+8C>T
|
rs77380520
|
0.00321
|
NM_001017420.3(ESCO2):c.1647T>C (p.Ile549=)
|
rs73568217
|
0.00321
|
NM_000527.5(LDLR):c.1920C>T (p.Asn640=)
|
rs5926
|
0.00319
|
NM_000094.4(COL7A1):c.5154+5T>C
|
rs2854400
|
0.00317
|
NM_001352514.2(HLCS):c.2113G>A (p.Glu705Lys)
|
rs149736764
|
0.00315
|
NM_000536.4(RAG2):c.22G>A (p.Val8Ile)
|
rs150762709
|
0.00313
|
NM_006493.4(CLN5):c.-87C>T
|
rs200353554
|
0.00309
|
NM_000019.4(ACAT1):c.1068T>C (p.Phe356=)
|
rs139657823
|
0.00308
|
NM_000498.3(CYP11B2):c.798C>T (p.Tyr266=)
|
rs149682756
|
0.00308
|
NM_001127671.2(LIFR):c.2498-7G>A
|
rs113078097
|
0.00306
|
NM_152564.5(VPS13B):c.7678G>A (p.Glu2560Lys)
|
rs111751379
|
0.00304
|
NM_000057.4(BLM):c.2160C>T (p.Ile720=)
|
rs28385028
|
0.00303
|
NM_000135.4(FANCA):c.857A>G (p.Gln286Arg)
|
rs13336566
|
0.00303
|
NM_000235.4(LIPA):c.1113A>G (p.Glu371=)
|
rs116827211
|
0.00302
|
NM_000271.5(NPC1):c.540C>T (p.Asp180=)
|
rs143656971
|
0.00300
|
NM_000481.4(AMT):c.1145G>A (p.Arg382Gln)
|
rs141246107
|
0.00299
|
NM_000154.2(GALK1):c.1107+5G>A
|
rs201663491
|
0.00297
|
NM_000396.4(CTSK):c.675A>G (p.Arg225=)
|
rs41271965
|
0.00297
|
NM_000492.4(CFTR):c.4242+13A>G
|
rs76179227
|
0.00295
|
NM_001875.5(CPS1):c.486T>C (p.Tyr162=)
|
rs138779023
|
0.00295
|
NM_206933.4(USH2A):c.12093C>T (p.Tyr4031=)
|
rs55921307
|
0.00295
|
NM_000441.2(SLC26A4):c.849G>C (p.Met283Ile)
|
rs146348818
|
0.00293
|
NM_014363.6(SACS):c.3129A>G (p.Ser1043=)
|
rs148878361
|
0.00292
|
NM_000094.4(COL7A1):c.4612C>T (p.Arg1538Cys)
|
rs149711883
|
0.00288
|
NM_000094.4(COL7A1):c.3359G>A (p.Arg1120Lys)
|
rs2228563
|
0.00287
|
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile)
|
rs148932323
|
0.00287
|
NM_000094.4(COL7A1):c.802C>T (p.Pro268Ser)
|
rs35623035
|
0.00285
|
NM_182760.4(SUMF1):c.1077G>A (p.Ser359=)
|
rs140751492
|
0.00285
|
NM_000352.6(ABCC8):c.1926C>G (p.Pro642=)
|
rs75376282
|
0.00284
|
NM_000022.4(ADA):c.162G>A (p.Lys54=)
|
rs45557242
|
0.00282
|
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met)
|
rs60986317
|
0.00282
|
NM_000543.5(SMPD1):c.1460C>T (p.Ala487Val)
|
rs141641266
|
0.00282
|
NM_000260.4(MYO7A):c.905G>A (p.Arg302His)
|
rs41298135
|
0.00281
|
NM_017739.4(POMGNT1):c.1298C>T (p.Thr433Met)
|
rs146097254
|
0.00280
|
NM_001369.3(DNAH5):c.4510G>C (p.Gly1504Arg)
|
rs143567667
|
0.00277
|
NM_003640.5(ELP1):c.286A>G (p.Ser96Gly)
|
rs35942802
|
0.00277
|
NM_001283009.2(RTEL1):c.301+7C>T
|
rs200648296
|
0.00276
|
NM_001386140.1(MTTP):c.-6G>A
|
rs41275707
|
0.00276
|
NM_000136.3(FANCC):c.584A>T (p.Asp195Val)
|
rs1800365
|
0.00275
|
NM_206933.4(USH2A):c.10858A>G (p.Ile3620Val)
|
rs145207584
|
0.00275
|
NM_002454.3(MTRR):c.1326C>T (p.Leu442=)
|
rs144781389
|
0.00274
|
NM_000359.3(TGM1):c.2405A>T (p.Asp802Val)
|
rs2228337
|
0.00273
|
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys)
|
rs58241708
|
0.00272
|
NM_000441.2(SLC26A4):c.2139T>G (p.Ile713Met)
|
rs143708308
|
0.00268
|
NM_024649.5(BBS1):c.24T>C (p.Asp8=)
|
rs55848325
|
0.00267
|
NM_000051.4(ATM):c.2362A>C (p.Ser788Arg)
|
rs641252
|
0.00265
|
NM_000092.5(COL4A4):c.5016A>G (p.Glu1672=)
|
rs34761049
|
0.00264
|
NM_001017420.3(ESCO2):c.764T>C (p.Phe255Ser)
|
rs141631911
|
0.00262
|
NM_000170.3(GLDC):c.1331G>A (p.Cys444Tyr)
|
rs142099123
|
0.00261
|
NM_000158.4(GBE1):c.405C>T (p.Leu135=)
|
rs139882066
|
0.00259
|
NM_012434.5(SLC17A5):c.553A>G (p.Met185Val)
|
rs34348416
|
0.00257
|
NM_138694.4(PKHD1):c.1950G>A (p.Arg650=)
|
rs143226202
|
0.00257
|
NM_000035.4(ALDOB):c.799+6G>A
|
rs141888548
|
0.00251
|
NM_017739.4(POMGNT1):c.301G>A (p.Val101Ile)
|
rs150576537
|
0.00250
|
NM_031885.5(BBS2):c.1422G>A (p.Ser474=)
|
rs117033008
|
0.00250
|
NM_000243.3(MEFV):c.1587+18C>T
|
rs11466030
|
0.00248
|
NM_004004.6(GJB2):c.457G>A (p.Val153Ile)
|
rs111033186
|
0.00247
|
NM_000057.4(BLM):c.3613G>A (p.Val1205Ile)
|
rs28385141
|
0.00245
|
NM_000487.6(ARSA):c.1447G>A (p.Glu483Lys)
|
rs148352371
|
0.00245
|
NM_020320.5(RARS2):c.-8A>C
|
rs28381459
|
0.00245
|
NM_014251.3(SLC25A13):c.1680C>T (p.Ser560=)
|
rs150082469
|
0.00244
|
NM_000255.4(MMUT):c.205A>G (p.Ile69Val)
|
rs115923556
|
0.00243
|
NM_000289.6(PFKM):c.1338G>A (p.Gly446=)
|
rs150378513
|
0.00243
|
NM_152564.5(VPS13B):c.2643A>T (p.Lys881Asn)
|
rs148777544
|
0.00243
|
NM_000359.3(TGM1):c.429C>T (p.Arg143=)
|
rs144989372
|
0.00239
|
NM_000048.4(ASL):c.162C>T (p.Leu54=)
|
rs140221164
|
0.00238
|
NM_000154.2(GALK1):c.1119C>T (p.Gly373=)
|
rs73997615
|
0.00237
|
NM_000158.4(GBE1):c.1134T>G (p.Ser378Arg)
|
rs36099971
|
0.00237
|
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=)
|
rs112751577
|
0.00237
|
NM_000528.4(MAN2B1):c.743C>T (p.Pro248Leu)
|
rs117843968
|
0.00237
|
NM_014363.6(SACS):c.10611A>G (p.Ala3537=)
|
rs137856939
|
0.00236
|
NM_000170.3(GLDC):c.1229G>A (p.Arg410Lys)
|
rs144090917
|
0.00234
|
NM_153676.4(USH1C):c.403G>A (p.Val135Ile)
|
rs145013633
|
0.00234
|
NM_000030.3(AGXT):c.590G>A (p.Arg197Gln)
|
rs34664134
|
0.00233
|
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val)
|
rs139570786
|
0.00232
|
NM_000030.3(AGXT):c.557C>T (p.Ala186Val)
|
rs117195882
|
0.00231
|
NM_000126.4(ETFA):c.186+7A>G
|
rs184587113
|
0.00231
|
NM_000282.4(PCCA):c.145C>T (p.Arg49Cys)
|
rs148651921
|
0.00231
|
NM_001033855.3(DCLRE1C):c.2001A>G (p.Leu667=)
|
rs61749163
|
0.00231
|
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser)
|
rs139235751
|
0.00230
|
NM_001875.5(CPS1):c.3033G>C (p.Val1011=)
|
rs35374255
|
0.00230
|
NM_006118.4(HAX1):c.207A>T (p.Pro69=)
|
rs142150013
|
0.00228
|
NM_000053.4(ATP7B):c.2955C>T (p.Cys985=)
|
rs116587608
|
0.00227
|
NM_002435.3(MPI):c.414G>A (p.Met138Ile)
|
rs150217523
|
0.00227
|
NM_001378454.1(ALMS1):c.1838G>A (p.Gly613Asp)
|
rs148040591
|
0.00225
|
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala)
|
rs147222255
|
0.00223
|
NM_000094.4(COL7A1):c.5988C>T (p.Ile1996=)
|
rs146901730
|
0.00220
|
NM_001079802.2(FKTN):c.167G>A (p.Arg56His)
|
rs146951171
|
0.00218
|
NM_003640.5(ELP1):c.2543C>A (p.Thr848Asn)
|
rs10979599
|
0.00218
|
NM_000528.4(MAN2B1):c.1068C>G (p.Pro356=)
|
rs117880912
|
0.00217
|
NM_012434.5(SLC17A5):c.1324G>A (p.Val442Ile)
|
rs74360232
|
0.00215
|
NM_014140.4(SMARCAL1):c.1271A>T (p.Asp424Val)
|
rs2066520
|
0.00215
|
NM_000057.4(BLM):c.254G>C (p.Arg85Thr)
|
rs141503266
|
0.00213
|
NM_000170.3(GLDC):c.2487C>T (p.Ala829=)
|
rs141806715
|
0.00213
|
NM_001003722.2(GLE1):c.433-15A>C
|
rs752897261
|
0.00213
|
NM_033305.3(VPS13A):c.4642G>A (p.Glu1548Lys)
|
rs41289967
|
0.00213
|
NM_152564.5(VPS13B):c.5501C>T (p.Ser1834Leu)
|
rs144257406
|
0.00213
|
NM_000642.3(AGL):c.2522C>T (p.Ser841Phe)
|
rs150441555
|
0.00209
|
NM_005609.4(PYGM):c.577G>T (p.Ala193Ser)
|
rs77656150
|
0.00209
|
NM_000170.3(GLDC):c.1156-7C>G
|
rs150095531
|
0.00208
|
NM_033305.3(VPS13A):c.3356G>A (p.Gly1119Glu)
|
rs144358567
|
0.00207
|
NM_023036.6(DNAI2):c.1408G>A (p.Gly470Ser)
|
rs115299472
|
0.00205
|
NM_001378454.1(ALMS1):c.3311G>A (p.Gly1104Asp)
|
rs201074268
|
0.00204
|
NM_000170.3(GLDC):c.2683A>G (p.Met895Val)
|
rs141152043
|
0.00200
|
NM_033305.3(VPS13A):c.1758T>C (p.Ala586=)
|
rs149037185
|
0.00199
|
NM_152564.5(VPS13B):c.11619G>C (p.Val3873=)
|
rs113454700
|
0.00194
|
NM_000152.5(GAA):c.676C>G (p.Leu226Val)
|
rs113085339
|
0.00193
|
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile)
|
rs148399850
|
0.00192
|
NM_002454.3(MTRR):c.739C>T (p.Pro247Ser)
|
rs114053717
|
0.00190
|
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile)
|
rs41303255
|
0.00190
|
NM_002485.5(NBN):c.283G>A (p.Asp95Asn)
|
rs61753720
|
0.00188
|
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys)
|
rs141859946
|
0.00188
|
NM_153006.3(NAGS):c.374C>A (p.Thr125Lys)
|
rs185863881
|
0.00187
|
NM_000051.4(ATM):c.1229T>C (p.Val410Ala)
|
rs56128736
|
0.00186
|
NM_000199.5(SGSH):c.1283G>A (p.Arg428His)
|
rs144862290
|
0.00186
|
NM_014244.5(ADAMTS2):c.1488C>T (p.Phe496=)
|
rs147438064
|
0.00184
|
NM_153006.3(NAGS):c.1368C>G (p.Ser456=)
|
rs147700427
|
0.00184
|
NM_032520.5(GNPTG):c.741+5C>T
|
rs201263537
|
0.00183
|
NM_003659.4(AGPS):c.1233+5A>G
|
rs370777451
|
0.00181
|
NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly)
|
rs141093638
|
0.00181
|
NM_000170.3(GLDC):c.1927-9A>G
|
rs41281773
|
0.00180
|
NM_033305.3(VPS13A):c.7457T>C (p.Ile2486Thr)
|
rs141138349
|
0.00178
|
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln)
|
rs149318176
|
0.00178
|
NM_000108.5(DLD):c.826A>T (p.Thr276Ser)
|
rs148873419
|
0.00175
|
NM_000528.4(MAN2B1):c.609G>T (p.Glu203Asp)
|
rs139290127
|
0.00175
|
NM_005609.4(PYGM):c.924C>T (p.Ile308=)
|
rs139726186
|
0.00175
|
NM_152564.5(VPS13B):c.10052A>T (p.Asn3351Ile)
|
rs111353525
|
0.00170
|
NM_001384474.1(LOXHD1):c.5313C>T (p.Gly1771=)
|
rs373924055
|
0.00168
|
NM_000520.6(HEXA):c.1146+8G>A
|
rs201453018
|
0.00167
|
NM_000532.5(PCCB):c.1490C>T (p.Ala497Val)
|
rs142403318
|
0.00162
|
NM_023036.6(DNAI2):c.1660G>A (p.Asp554Asn)
|
rs117932646
|
0.00161
|
NM_206933.4(USH2A):c.13709G>A (p.Arg4570His)
|
rs730254
|
0.00158
|
NM_006623.4(PHGDH):c.624T>C (p.Pro208=)
|
rs77401816
|
0.00154
|
NM_000128.4(F11):c.1305-9G>T
|
rs4253426
|
0.00153
|
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser)
|
rs181250704
|
0.00151
|
NM_000271.5(NPC1):c.3331C>T (p.Leu1111=)
|
rs151125564
|
0.00150
|
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu)
|
rs111033218
|
0.00150
|
NM_024301.5(FKRP):c.1177G>A (p.Val393Ile)
|
rs140679502
|
0.00150
|
NM_001384140.1(PCDH15):c.3018G>T (p.Val1006=)
|
rs41307518
|
0.00149
|
NM_001164508.2(NEB):c.914A>G (p.Asp305Gly)
|
rs36105240
|
0.00148
|
NM_000156.6(GAMT):c.392-7C>T
|
rs192416474
|
0.00144
|
NM_152564.5(VPS13B):c.2760A>G (p.Leu920=)
|
rs138661755
|
0.00144
|
NM_004004.6(GJB2):c.380G>A (p.Arg127His)
|
rs111033196
|
0.00143
|
NM_012203.2(GRHPR):c.512G>A (p.Arg171His)
|
rs200106110
|
0.00143
|
NM_000478.6(ALPL):c.859T>C (p.Leu287=)
|
rs141742288
|
0.00141
|
NM_001386140.1(MTTP):c.2433G>C (p.Leu811Phe)
|
rs144590904
|
0.00141
|
NM_004937.3(CTNS):c.327C>T (p.Thr109=)
|
rs150554216
|
0.00141
|
NM_000528.4(MAN2B1):c.1822G>A (p.Glu608Lys)
|
rs145062583
|
0.00139
|
NM_000536.4(RAG2):c.1095T>C (p.Ser365=)
|
rs140519815
|
0.00139
|
NM_000260.4(MYO7A):c.510G>A (p.Leu170=)
|
rs34477144
|
0.00138
|
NM_000527.5(LDLR):c.1194C>T (p.Ile398=)
|
rs13306498
|
0.00138
|
NM_000135.4(FANCA):c.2977C>A (p.Gln993Lys)
|
rs140823801
|
0.00137
|
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys)
|
rs1800073
|
0.00134
|
NM_000137.4(FAH):c.961-17G>A
|
rs372657388
|
0.00133
|
NM_002435.3(MPI):c.10C>T (p.Pro4Ser)
|
rs143982014
|
0.00133
|
NM_000528.4(MAN2B1):c.2260G>A (p.Glu754Lys)
|
rs141212446
|
0.00132
|
NM_005476.7(GNE):c.1872G>A (p.Ala624=)
|
rs145361930
|
0.00126
|
NM_001164508.2(NEB):c.25035C>T (p.Asp8345=)
|
rs201825451
|
0.00123
|
NM_000271.5(NPC1):c.612C>T (p.Thr204=)
|
rs151084683
|
0.00122
|
NM_006432.5(NPC2):c.88G>A (p.Val30Met)
|
rs151220873
|
0.00122
|
NM_000492.4(CFTR):c.1666A>G (p.Ile556Val)
|
rs75789129
|
0.00119
|
NM_152564.5(VPS13B):c.7708G>A (p.Asp2570Asn)
|
rs140179844
|
0.00117
|
NM_006493.4(CLN5):c.76T>C (p.Trp26Arg)
|
rs199727787
|
0.00116
|
NM_152564.5(VPS13B):c.1832G>A (p.Arg611Lys)
|
rs61754109
|
0.00116
|
NM_000033.4(ABCD1):c.707G>A (p.Arg236His)
|
rs201455322
|
0.00114
|
NM_014844.5(TECPR2):c.1644T>G (p.Asn548Lys)
|
rs72700613
|
0.00114
|
NM_000094.4(COL7A1):c.4559C>T (p.Pro1520Leu)
|
rs140114392
|
0.00113
|
NM_000199.5(SGSH):c.1002C>T (p.Ala334=)
|
rs145596938
|
0.00113
|
NM_000383.4(AIRE):c.510A>G (p.Ala170=)
|
rs146992760
|
0.00113
|
NM_001384474.1(LOXHD1):c.4217C>T (p.Ala1406Val)
|
rs146739496
|
0.00111
|
NM_003227.4(TFR2):c.2137-5C>T
|
rs374964799
|
0.00111
|
NM_015166.4(MLC1):c.628G>A (p.Val210Ile)
|
rs11568178
|
0.00110
|
NM_000016.6(ACADM):c.678A>G (p.Ala226=)
|
rs2229249
|
0.00108
|
NM_000492.4(CFTR):c.2620-26A>G
|
rs201716473
|
0.00108
|
NM_001127671.2(LIFR):c.2302A>G (p.Arg768Gly)
|
rs139848756
|
0.00107
|
NM_014049.5(ACAD9):c.988A>C (p.Lys330Gln)
|
rs79530903
|
0.00107
|
NM_052845.4(MMAB):c.10T>C (p.Cys4Arg)
|
rs146668962
|
0.00104
|
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys)
|
rs138327406
|
0.00103
|
NM_000359.3(TGM1):c.432G>A (p.Gly144=)
|
rs141559048
|
0.00102
|
NM_006623.4(PHGDH):c.1559C>A (p.Ala520Glu)
|
rs151275800
|
0.00101
|
NM_000169.3(GLA):c.8T>C (p.Leu3Pro)
|
rs150547672
|
0.00098
|
NM_012434.5(SLC17A5):c.85G>A (p.Ala29Thr)
|
rs141463026
|
0.00098
|
NM_000091.5(COL4A3):c.222G>T (p.Pro74=)
|
rs187950806
|
0.00096
|
NM_000030.3(AGXT):c.1023C>A (p.Asp341Glu)
|
rs144007007
|
0.00095
|
NM_002435.3(MPI):c.1049C>T (p.Thr350Met)
|
rs116933453
|
0.00095
|
NM_002529.4(NTRK1):c.1080G>A (p.Thr360=)
|
rs2274498
|
0.00095
|
NM_000159.4(GCDH):c.1011A>G (p.Ala337=)
|
rs2229460
|
0.00093
|
NM_006432.5(NPC2):c.363+7G>A
|
rs200463204
|
0.00093
|
NM_000277.3(PAH):c.158G>A (p.Arg53His)
|
rs118092776
|
0.00091
|
NM_025216.3(WNT10A):c.208C>T (p.Arg70Trp)
|
rs146460077
|
0.00089
|
NM_000151.4(G6PC1):c.*3G>A
|
rs191399793
|
0.00088
|
NM_000520.6(HEXA):c.1527-6T>C
|
rs199914308
|
0.00087
|
NM_000035.4(ALDOB):c.543T>G (p.Asn181Lys)
|
rs35885472
|
0.00086
|
NM_001283009.2(RTEL1):c.2805C>T (p.Leu935=)
|
rs12625047
|
0.00086
|
NM_001370658.1(BTD):c.1041C>T (p.Gly347=)
|
rs142421934
|
0.00086
|
NM_000352.6(ABCC8):c.1707C>T (p.Ala569=)
|
rs147623093
|
0.00083
|
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr)
|
rs35516286
|
0.00083
|
NM_138694.4(PKHD1):c.1877A>G (p.Lys626Arg)
|
rs117122807
|
0.00080
|
NM_000528.4(MAN2B1):c.1521G>T (p.Ala507=)
|
rs143318498
|
0.00077
|
NM_152564.5(VPS13B):c.2704A>G (p.Lys902Glu)
|
rs149531438
|
0.00074
|
NM_152564.5(VPS13B):c.3656C>G (p.Ser1219Cys)
|
rs149478021
|
0.00073
|
NM_015166.4(MLC1):c.627C>T (p.Ala209=)
|
rs138153307
|
0.00071
|
NM_002225.5(IVD):c.891G>A (p.Ala297=)
|
rs138427412
|
0.00069
|
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu)
|
rs121909034
|
0.00068
|
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr)
|
rs140601319
|
0.00068
|
NM_004646.4(NPHS1):c.1339G>A (p.Glu447Lys)
|
rs28939695
|
0.00067
|
NM_000094.4(COL7A1):c.4312G>A (p.Val1438Ile)
|
rs148625586
|
0.00066
|
NM_001369.3(DNAH5):c.2578-10T>G
|
rs756212532
|
0.00065
|
NM_006623.4(PHGDH):c.985A>T (p.Thr329Ser)
|
rs201298102
|
0.00064
|
NM_014844.5(TECPR2):c.1833A>G (p.Thr611=)
|
rs147716085
|
0.00063
|
NM_033305.3(VPS13A):c.6096-7C>T
|
rs190144287
|
0.00061
|
NM_000018.4(ACADVL):c.1824C>T (p.Ile608=)
|
rs146115467
|
0.00058
|
NM_000531.6(OTC):c.298+5G>C
|
rs72554348
|
0.00058
|
NM_001164508.2(NEB):c.8499G>A (p.Lys2833=)
|
rs183998406
|
0.00058
|
NM_005609.4(PYGM):c.182G>A (p.Arg61His)
|
rs145514333
|
0.00058
|
NM_138694.4(PKHD1):c.2194G>T (p.Val732Phe)
|
rs201432731
|
0.00058
|
NM_001378454.1(ALMS1):c.8942A>G (p.Asn2981Ser)
|
rs200390821
|
0.00057
|
NM_000135.4(FANCA):c.4036G>A (p.Ala1346Thr)
|
rs17227396
|
0.00056
|
NM_033056.4(PCDH15):c.5398G>A (p.Val1800Ile)
|
rs111033463
|
0.00056
|
NM_206933.4(USH2A):c.4758+3A>G
|
rs117798425
|
0.00056
|
NM_000094.4(COL7A1):c.1098G>A (p.Gly366=)
|
rs150776274
|
0.00055
|
NM_001283009.2(RTEL1):c.2915C>T (p.Thr972Ile)
|
rs199834369
|
0.00055
|
NM_000274.4(OAT):c.1311G>T (p.Leu437Phe)
|
rs1800456
|
0.00054
|
NM_000137.4(FAH):c.181G>T (p.Val61Phe)
|
rs151264725
|
0.00053
|
NM_015702.3(MMADHC):c.617A>G (p.Asn206Ser)
|
rs138607412
|
0.00051
|
NM_000520.6(HEXA):c.-4G>A
|
rs766510036
|
0.00050
|
NM_001369.3(DNAH5):c.1198G>A (p.Val400Met)
|
rs144575803
|
0.00050
|
NM_152564.5(VPS13B):c.1463C>T (p.Thr488Met)
|
rs150783688
|
0.00050
|
NM_206933.4(USH2A):c.15427C>T (p.Arg5143Cys)
|
rs145771342
|
0.00050
|
NM_001126108.2(SLC12A3):c.1386C>T (p.Phe462=)
|
rs142199602
|
0.00048
|
NM_014244.5(ADAMTS2):c.764G>A (p.Arg255Gln)
|
rs117222015
|
0.00048
|
NM_206933.4(USH2A):c.2052A>G (p.Gln684=)
|
rs111033248
|
0.00048
|
NM_014140.4(SMARCAL1):c.962G>A (p.Gly321Asp)
|
rs148752234
|
0.00047
|
NM_000035.4(ALDOB):c.619G>C (p.Glu207Gln)
|
rs3739721
|
0.00046
|
NM_153676.4(USH1C):c.648G>A (p.Leu216=)
|
rs77137413
|
0.00046
|
NM_000642.3(AGL):c.39C>T (p.Asn13=)
|
rs138203039
|
0.00045
|
NM_000094.4(COL7A1):c.3611C>T (p.Ala1204Val)
|
rs144825552
|
0.00044
|
NM_004646.4(NPHS1):c.2869G>C (p.Val957Leu)
|
rs114849139
|
0.00044
|
NM_000094.4(COL7A1):c.1985A>G (p.Gln662Arg)
|
rs139622306
|
0.00043
|
NM_000048.4(ASL):c.392C>T (p.Thr131Met)
|
rs143793815
|
0.00042
|
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val)
|
rs138417003
|
0.00041
|
NM_004646.4(NPHS1):c.1802G>C (p.Gly601Ala)
|
rs114615449
|
0.00041
|
NM_000466.3(PEX1):c.2718+3A>G
|
rs370536529
|
0.00040
|
NM_206933.4(USH2A):c.9340C>T (p.Pro3114Ser)
|
rs201071654
|
0.00040
|
NM_000053.4(ATP7B):c.2785A>G (p.Ile929Val)
|
rs534960245
|
0.00038
|
NM_000255.4(MMUT):c.1991C>T (p.Ala664Val)
|
rs137958217
|
0.00036
|
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe)
|
rs56009889
|
0.00035
|
NM_000303.3(PMM2):c.110A>T (p.Gln37Leu)
|
rs2304472
|
0.00035
|
NM_014363.6(SACS):c.3144A>G (p.Val1048=)
|
rs3751369
|
0.00035
|
NM_001164508.2(NEB):c.18530G>A (p.Arg6177His)
|
rs147159176
|
0.00034
|
NM_001360.3(DHCR7):c.126C>T (p.Ser42=)
|
rs150928869
|
0.00031
|
NM_001369.3(DNAH5):c.1631C>T (p.Thr544Ile)
|
rs118026202
|
0.00031
|
NM_002435.3(MPI):c.214A>C (p.Ser72Arg)
|
rs146699267
|
0.00031
|
NM_206933.4(USH2A):c.9915G>C (p.Glu3305Asp)
|
rs145278250
|
0.00031
|
NM_000260.4(MYO7A):c.324C>T (p.Tyr108=)
|
rs116892396
|
0.00030
|
NM_000271.5(NPC1):c.3717C>T (p.His1239=)
|
rs34624018
|
0.00030
|
NM_002485.5(NBN):c.1690G>A (p.Glu564Lys)
|
rs72550742
|
0.00030
|
NM_000094.4(COL7A1):c.8047-4C>T
|
rs185429200
|
0.00029
|
NM_000642.3(AGL):c.4331A>G (p.Asn1444Ser)
|
rs143815159
|
0.00029
|
NM_001384474.1(LOXHD1):c.5400-3C>T
|
rs528236655
|
0.00029
|
NM_014140.4(SMARCAL1):c.1785C>T (p.Ile595=)
|
rs145825654
|
0.00029
|
NM_033305.3(VPS13A):c.2124A>G (p.Ser708=)
|
rs199682779
|
0.00029
|
NM_152564.5(VPS13B):c.3751A>G (p.Thr1251Ala)
|
rs184693266
|
0.00029
|
NM_000466.3(PEX1):c.3031G>A (p.Val1011Met)
|
rs141650598
|
0.00028
|
NM_000303.3(PMM2):c.366C>T (p.Phe122=)
|
rs145714866
|
0.00027
|
NM_000360.4(TH):c.627C>G (p.Ile209Met)
|
rs202149985
|
0.00027
|
NM_000528.4(MAN2B1):c.719G>A (p.Arg240Gln)
|
rs11554970
|
0.00027
|
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser)
|
rs104895032
|
0.00027
|
NM_000492.4(CFTR):c.374T>C (p.Ile125Thr)
|
rs141723617
|
0.00026
|
NM_014244.5(ADAMTS2):c.770C>A (p.Ala257Glu)
|
rs370679548
|
0.00026
|
NM_006019.4(TCIRG1):c.2193C>T (p.Thr731=)
|
rs141601593
|
0.00025
|
NM_025216.3(WNT10A):c.234C>T (p.His78=)
|
rs199802454
|
0.00025
|
NM_130849.4(SLC39A4):c.1126G>A (p.Ala376Thr)
|
rs200073988
|
0.00024
|
NM_152564.5(VPS13B):c.1440C>T (p.Phe480=)
|
rs141324814
|
0.00024
|
NM_004646.4(NPHS1):c.65C>T (p.Ala22Val)
|
rs116617171
|
0.00023
|
NM_005609.4(PYGM):c.1527G>T (p.Gly509=)
|
rs114730784
|
0.00023
|
NM_000487.6(ARSA):c.982G>A (p.Val328Met)
|
rs143994992
|
0.00022
|
NM_152564.5(VPS13B):c.1639A>G (p.Thr547Ala)
|
rs142971568
|
0.00022
|
NM_000092.5(COL4A4):c.4195A>T (p.Met1399Leu)
|
rs149117087
|
0.00019
|
NM_001243279.3(ACSF3):c.1456G>A (p.Ala486Thr)
|
rs192339782
|
0.00019
|
NM_001243279.3(ACSF3):c.1562C>G (p.Thr521Ser)
|
rs201022212
|
0.00019
|
NM_001369.3(DNAH5):c.12367C>T (p.His4123Tyr)
|
rs151145750
|
0.00019
|
NM_000154.2(GALK1):c.987G>A (p.Val329=)
|
rs184160171
|
0.00018
|
NM_000528.4(MAN2B1):c.2404A>G (p.Ser802Gly)
|
rs141391488
|
0.00018
|
NM_001875.5(CPS1):c.3626T>C (p.Met1209Thr)
|
rs200569046
|
0.00018
|
NM_024312.5(GNPTAB):c.1750C>A (p.Pro584Thr)
|
rs201829728
|
0.00018
|
NM_000255.4(MMUT):c.1333-8C>T
|
rs199555550
|
0.00017
|
NM_152564.5(VPS13B):c.1528C>T (p.Arg510Cys)
|
rs139141291
|
0.00017
|
NM_000033.4(ABCD1):c.1902C>T (p.Ala634=)
|
rs141110958
|
0.00016
|
NM_002435.3(MPI):c.1125G>A (p.Gly375=)
|
rs552854858
|
0.00016
|
NM_003060.4(SLC22A5):c.904A>G (p.Lys302Glu)
|
rs75783492
|
0.00016
|
NM_005609.4(PYGM):c.2290A>G (p.Asn764Asp)
|
rs190548494
|
0.00016
|
NM_152564.5(VPS13B):c.358A>G (p.Ile120Val)
|
rs201147123
|
0.00016
|
NM_182760.4(SUMF1):c.606G>A (p.Pro202=)
|
rs141957829
|
0.00016
|
NM_001126108.2(SLC12A3):c.2368+8C>A
|
rs140236327
|
0.00015
|
NM_000532.5(PCCB):c.654+3A>C
|
rs199886085
|
0.00014
|
NM_001017420.3(ESCO2):c.147C>G (p.Cys49Trp)
|
rs201989984
|
0.00014
|
NM_032520.5(GNPTG):c.502G>A (p.Val168Ile)
|
rs190614894
|
0.00014
|
NM_138694.4(PKHD1):c.812T>A (p.Leu271His)
|
rs750887164
|
0.00014
|
NM_001875.5(CPS1):c.3466A>T (p.Thr1156Ser)
|
rs201246466
|
0.00013
|
NM_018006.5(TRMU):c.1158G>A (p.Leu386=)
|
rs79874854
|
0.00013
|
NM_020533.3(MCOLN1):c.339G>A (p.Ala113=)
|
rs180687633
|
0.00013
|
NM_152564.5(VPS13B):c.9035C>G (p.Thr3012Ser)
|
rs576577339
|
0.00013
|
NM_000232.5(SGCB):c.799C>T (p.Arg267Cys)
|
rs200761715
|
0.00012
|
NM_000521.4(HEXB):c.1627G>A (p.Ala543Thr)
|
rs121907984
|
0.00012
|
NM_000048.4(ASL):c.1278C>T (p.Cys426=)
|
rs140770112
|
0.00011
|
NM_000135.4(FANCA):c.2236G>T (p.Ala746Ser)
|
rs575108446
|
0.00011
|
NM_000352.6(ABCC8):c.102G>A (p.Val34=)
|
rs189746511
|
0.00011
|
NM_000360.4(TH):c.91-828C>T
|
rs764689284
|
0.00011
|
NM_006493.4(CLN5):c.1026A>G (p.Thr342=)
|
rs200637649
|
0.00011
|
NM_000441.2(SLC26A4):c.17G>T (p.Gly6Val)
|
rs111033423
|
0.00010
|
NM_000784.4(CYP27A1):c.256G>A (p.Val86Met)
|
rs200604732
|
0.00010
|
NM_014244.5(ADAMTS2):c.1431G>A (p.Ala477=)
|
rs147259971
|
0.00010
|
NM_000159.4(GCDH):c.886G>A (p.Gly296Ser)
|
rs539505767
|
0.00009
|
NM_006493.4(CLN5):c.-4C>T
|
rs587780896
|
0.00009
|
NM_014140.4(SMARCAL1):c.2226G>A (p.Thr742=)
|
rs2271335
|
0.00009
|
NM_014844.5(TECPR2):c.1477C>T (p.Pro493Ser)
|
rs150165045
|
0.00009
|
NM_000246.4(CIITA):c.1486C>T (p.Leu496Phe)
|
rs756970534
|
0.00008
|
NM_000057.4(BLM):c.178T>A (p.Leu60Ile)
|
rs138542210
|
0.00007
|
NM_000391.4(TPP1):c.1033A>C (p.Met345Leu)
|
rs141482368
|
0.00007
|
NM_000053.4(ATP7B):c.442C>T (p.Arg148Trp)
|
rs373762572
|
0.00006
|
NM_000094.4(COL7A1):c.4719A>G (p.Glu1573=)
|
rs558405095
|
0.00006
|
NM_000158.4(GBE1):c.2035C>T (p.Arg679Cys)
|
rs202158511
|
0.00006
|
NM_000528.4(MAN2B1):c.2782G>C (p.Gly928Arg)
|
rs754733253
|
0.00006
|
NM_001876.4(CPT1A):c.1083G>A (p.Gln361=)
|
rs761229343
|
0.00006
|
NM_014844.5(TECPR2):c.3999C>T (p.Leu1333=)
|
rs556751486
|
0.00006
|
NM_152564.5(VPS13B):c.8010C>T (p.Ala2670=)
|
rs376062743
|
0.00006
|
NM_000199.5(SGSH):c.163C>T (p.Arg55Cys)
|
rs368650877
|
0.00005
|
NM_003659.4(AGPS):c.35G>A (p.Gly12Asp)
|
rs557931141
|
0.00005
|
NM_004937.3(CTNS):c.364G>A (p.Ala122Thr)
|
rs187396540
|
0.00005
|
NM_012203.2(GRHPR):c.357A>G (p.Leu119=)
|
rs186922220
|
0.00005
|
NM_014244.5(ADAMTS2):c.291C>T (p.Phe97=)
|
rs462009
|
0.00005
|
NM_014844.5(TECPR2):c.1180A>C (p.Arg394=)
|
rs549744502
|
0.00005
|
NM_024649.5(BBS1):c.1036G>A (p.Val346Ile)
|
rs201872547
|
0.00005
|
NM_206933.4(USH2A):c.1731C>T (p.Cys577=)
|
rs41313732
|
0.00005
|
NM_000151.4(G6PC1):c.132C>T (p.Tyr44=)
|
rs202190197
|
0.00004
|
NM_000289.6(PFKM):c.468G>C (p.Leu156=)
|
rs772301967
|
0.00004
|
NM_004629.2(FANCG):c.77A>G (p.Gln26Arg)
|
rs200677800
|
0.00004
|
NM_033159.4(HYAL1):c.419A>G (p.Asn140Ser)
|
rs587637619
|
0.00004
|
NM_152564.5(VPS13B):c.10310C>T (p.Ser3437Phe)
|
rs200268089
|
0.00004
|
NM_000092.5(COL4A4):c.1202C>T (p.Ala401Val)
|
rs199581317
|
0.00003
|
NM_000303.3(PMM2):c.712C>T (p.Arg238Cys)
|
rs142459706
|
0.00003
|
NM_001126108.2(SLC12A3):c.1543A>G (p.Ile515Val)
|
rs554432544
|
0.00003
|
NM_014844.5(TECPR2):c.1203C>T (p.Ser401=)
|
rs759378757
|
0.00003
|
NM_020533.3(MCOLN1):c.707G>A (p.Arg236Gln)
|
rs528887619
|
0.00003
|
NM_152564.5(VPS13B):c.2885C>T (p.Thr962Met)
|
rs547184348
|
0.00003
|
NM_206933.4(USH2A):c.3532C>G (p.Pro1178Ala)
|
rs372081834
|
0.00003
|
NM_000289.6(PFKM):c.1467C>T (p.Asn489=)
|
rs753681797
|
0.00002
|
NM_015166.4(MLC1):c.544G>A (p.Ala182Thr)
|
rs537457768
|
0.00002
|
NM_138694.4(PKHD1):c.2726G>A (p.Arg909Gln)
|
rs201753421
|
0.00002
|
NM_000023.4(SGCA):c.80C>T (p.Thr27Met)
|
rs565069721
|
0.00001
|
NM_000135.4(FANCA):c.59G>A (p.Arg20Lys)
|
rs376307136
|
0.00001
|
NM_000170.3(GLDC):c.3002C>A (p.Thr1001Asn)
|
rs555776146
|
0.00001
|
NM_000255.4(MMUT):c.890C>T (p.Thr297Ile)
|
rs547709692
|
0.00001
|
NM_001378454.1(ALMS1):c.975G>A (p.Ser325=)
|
rs370267673
|
0.00001
|
NM_013339.4(ALG6):c.1341C>T (p.Val447=)
|
rs777326636
|
0.00001
|
NM_014249.4(NR2E3):c.864T>A (p.Gly288=)
|
rs537802684
|
0.00001
|
NM_016277.5(RAB23):c.218C>T (p.Ala73Val)
|
rs556931606
|
0.00001
|
NM_024312.5(GNPTAB):c.2665T>C (p.Leu889=)
|
rs139215843
|
0.00001
|
NM_031885.5(BBS2):c.1134A>G (p.Pro378=)
|
rs185178790
|
0.00001
|
NM_152564.5(VPS13B):c.7087A>C (p.Lys2363Gln)
|
rs533701597
|
0.00001
|
NM_000016.5(ACADM):c.-257G>A
|
rs17848068
|
|
NM_000018.4(ACADVL):c.693T>A (p.Ser231=)
|
rs77763289
|
|
NM_000019.4(ACAT1):c.*6dup
|
rs111390656
|
|
NM_000027.4(AGA):c.34G>T (p.Val12Leu)
|
rs74626221
|
|
NM_000030.3(AGXT):c.32C>T (p.Pro11Leu)
|
rs34116584
|
|
NM_000033.4(ABCD1):c.1489-6del
|
rs398123101
|
|
NM_000046.5(ARSB):c.113_121del (p.Gly38_Gly40del)
|
rs550086186
|
|
NM_000049.4(ASPA):c.693C>T (p.Tyr231=)
|
rs12948217
|
|
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA
|
|
|
NM_000092.5(COL4A4):c.2367A>T (p.Gly789=)
|
rs56247709
|
|
NM_000094.4(COL7A1):c.7191C>A (p.Pro2397=)
|
rs34360255
|
|
NM_000094.4(COL7A1):c.7984-7del
|
rs66737445
|
|
NM_000135.4(FANCA):c.1290G>A (p.Ala430=)
|
rs1800332
|
|
NM_000135.4(FANCA):c.3265G>A (p.Val1089Ile)
|
rs536839082
|
|
NM_000152.5(GAA):c.2647-71G>C
|
rs4889821
|
|
NM_000170.3(GLDC):c.1545G>A (p.Arg515=)
|
rs121964976
|
|
NM_000170.3(GLDC):c.2316-6dup
|
rs3215923
|
|
NM_000260.4(MYO7A):c.133-7C>T
|
rs111033221
|
|
NM_000260.4(MYO7A):c.2447G>A (p.Arg816His)
|
rs148343670
|
|
NM_000260.4(MYO7A):c.5598C>T (p.Leu1866=)
|
rs111033504
|
|
NM_000260.4(MYO7A):c.93C>T (p.Cys31=)
|
rs35689081
|
|
NM_000271.5(NPC1):c.1947+10G>C
|
rs71534236
|
|
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=)
|
rs55724504
|
|
NM_000277.3(PAH):c.500A>G (p.Asn167Ser)
|
rs77554925
|
|
NM_000282.4(PCCA):c.929C>G (p.Ala310Gly)
|
rs146927771
|
|
NM_000287.4(PEX6):c.1234-8_1234-7dup
|
rs200121485
|
|
NM_000310.4(PPT1):c.727-10T>G
|
rs554894547
|
|
NM_000352.6(ABCC8):c.3399+45C>A
|
rs200276273
|
|
NM_000383.4(AIRE):c.798C>G (p.Pro266=)
|
rs41277550
|
|
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr)
|
rs28943591
|
|
NM_000441.2(SLC26A4):c.-66C>G
|
rs17154282
|
|
NM_000478.6(ALPL):c.472+12del
|
rs35423948
|
|
NM_000487.6(ARSA):c.530G>A (p.Gly177Asp)
|
rs556812341
|
|
NM_000518.5(HBB):c.402G>C (p.Val134=)
|
rs113082294
|
|
NM_000527.5(LDLR):c.1060+10G>C
|
|
|
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr)
|
|
|
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)
|
|
|
NM_000528.4(MAN2B1):c.1850A>G (p.Asp617Gly)
|
rs370382032
|
|
NM_000528.4(MAN2B1):c.2267+8dup
|
rs572289342
|
|
NM_001003722.2(GLE1):c.564G>C (p.Arg188=)
|
rs559370225
|
|
NM_001039958.2(MESP2):c.498C>G (p.Pro166=)
|
rs200336355
|
|
NM_001079866.2(BCS1L):c.628G>A (p.Asp210Asn)
|
rs58447305
|
|
NM_001126108.2(SLC12A3):c.1176C>T (p.Thr392=)
|
rs117440321
|
|
NM_001127671.2(LIFR):c.3288C>T (p.Asn1096=)
|
rs3729751
|
|
NM_001142800.2(EYS):c.334G>A (p.Val112Ile)
|
rs112609906
|
|
NM_001142800.2(EYS):c.9342TGT[1] (p.Val3116del)
|
rs536788112
|
|
NM_001164508.2(NEB):c.10275G>A (p.Lys3425=)
|
rs1205545857
|
|
NM_001164508.2(NEB):c.9346G>A (p.Glu3116Lys)
|
rs193042896
|
|
NM_001173990.3(TMEM216):c.216T>C (p.Ile72=)
|
rs541666319
|
|
NM_001173990.3(TMEM216):c.5T>C (p.Leu2Pro)
|
rs569734777
|
|
NM_001352514.2(HLCS):c.1620+7del
|
rs140568778
|
|
NM_001360.3(DHCR7):c.*161_*172del
|
rs141483210
|
|
NM_001369.3(DNAH5):c.3835-3del
|
rs35398031
|
|
NM_001370658.1(BTD):c.152T>C (p.Leu51Pro)
|
rs397514333
|
|
NM_001378454.1(ALMS1):c.2038C>G (p.Arg680Gly)
|
rs115444326
|
|
NM_001378454.1(ALMS1):c.36GGA[16] (p.Glu26_Glu28dup)
|
rs55889738
|
|
NM_001384140.1(PCDH15):c.2885G>T (p.Arg962Leu)
|
rs45483395
|
|
NM_001384474.1(LOXHD1):c.2816AGA[3] (p.Lys942del)
|
rs142960762
|
|
NM_001384474.1(LOXHD1):c.4148C>T (p.Thr1383Met)
|
rs7244681
|
|
NM_001386140.1(MTTP):c.490A>G (p.Thr164Ala)
|
rs563558722
|
|
NM_002454.3(MTRR):c.1091_1093del (p.Cys364del)
|
rs796052001
|
|
NM_003659.4(AGPS):c.1152C>A (p.Val384=)
|
rs529236041
|
|
NM_004646.4(NPHS1):c.3418C>A (p.Arg1140Ser)
|
rs143092783
|
|
NM_005609.4(PYGM):c.1339A>C (p.Ile447Leu)
|
rs568496266
|
|
NM_005609.4(PYGM):c.661-5C>G
|
rs75633423
|
|
NM_012144.4(DNAI1):c.22G>T (p.Ala8Ser)
|
rs11547035
|
|
NM_014049.5(ACAD9):c.1331C>T (p.Ala444Val)
|
rs549861940
|
|
NM_014049.5(ACAD9):c.1675C>A (p.Arg559Ser)
|
rs138871762
|
|
NM_014140.4(SMARCAL1):c.960C>T (p.Ala320=)
|
rs2066513
|
|
NM_014140.4(SMARCAL1):c.961G>A (p.Gly321Ser)
|
rs371378288
|
|
NM_014244.5(ADAMTS2):c.1308G>A (p.Ala436=)
|
rs41285549
|
|
NM_014244.5(ADAMTS2):c.1869C>T (p.Arg623=)
|
rs376058580
|
|
NM_014297.5(ETHE1):c.-62C>G
|
rs114033490
|
|
NM_014363.6(SACS):c.8022T>C (p.Phe2674=)
|
rs34928783
|
|
NM_014844.5(TECPR2):c.1397AGA[7] (p.Lys471dup)
|
rs572609303
|
|
NM_014844.5(TECPR2):c.1872G>A (p.Ala624=)
|
rs145129878
|
|
NM_014844.5(TECPR2):c.2578+10CCCGCTCCCTGCT[3]
|
rs3831019
|
|
NM_015166.4(MLC1):c.1052_1053insCGGGGAGGTGAGTGGCCTGTGGGGTGGGGGTGC (p.Val354_Ala355insSerGlyLeuTrpGlyGlyGlyAlaGlyGluVal)
|
rs745656804
|
|
NM_015506.3(MMACHC):c.743C>G (p.Pro248Arg)
|
rs564280688
|
|
NM_019098.5(CNGB3):c.494-11dup
|
rs36008065
|
|
NM_020320.5(RARS2):c.726A>G (p.Gln242=)
|
rs145499324
|
|
NM_020533.3(MCOLN1):c.777+12dup
|
rs563339019
|
|
NM_025216.3(WNT10A):c.1003G>A (p.Asp335Asn)
|
rs545956598
|
|
NM_033056.4(PCDH15):c.5281GCTCCT[1] (p.1761AP[1])
|
rs397517465
|
|
NM_033305.3(VPS13A):c.6039C>A (p.Thr2013=)
|
rs528628591
|
|
NM_033380.3(COL4A5):c.1032+17del
|
rs761615270
|
|
NM_138694.4(PKHD1):c.449-15TTC[2]
|
rs545812620
|
|
NM_138694.4(PKHD1):c.6333-8_6333-7del
|
rs138161138
|
|
NM_152564.5(VPS13B):c.4861C>T (p.Pro1621Ser)
|
rs563705133
|
|
NM_206933.4(USH2A):c.12743A>G (p.His4248Arg)
|
rs145830318
|
|
NM_206933.4(USH2A):c.6510T>G (p.Ser2170Arg)
|
rs373604102
|
|