|
NM_031885.5(BBS2):c.209G>A (p.Ser70Asn)
|
rs4784677
|
0.99534
|
|
NM_014363.6(SACS):c.10338G>A (p.Gln3446=)
|
rs2737701
|
0.98600
|
|
NM_000318.3(PEX2):c.550T>C (p.Cys184Arg)
|
rs10087163
|
0.98578
|
|
NM_006019.4(TCIRG1):c.1245G>C (p.Leu415=)
|
rs2471829
|
0.97643
|
|
NM_138694.4(PKHD1):c.1185T>C (p.Asp395=)
|
rs1896976
|
0.96234
|
|
NM_138694.4(PKHD1):c.5608T>G (p.Leu1870Val)
|
rs2435322
|
0.95778
|
|
NM_153717.3(EVC):c.769C>T (p.Leu257=)
|
rs6446393
|
0.95639
|
|
NM_033028.5(BBS4):c.77-6G>A
|
rs8033604
|
0.94438
|
|
NM_000466.3(PEX1):c.2331C>A (p.Gly777=)
|
rs10278857
|
0.93013
|
|
NM_201253.3(CRB1):c.1410A>G (p.Leu470=)
|
rs3902057
|
0.92528
|
|
NM_000023.4(SGCA):c.*6T>C
|
rs2696288
|
0.91073
|
|
NM_001378454.1(ALMS1):c.2015T>G (p.Val672Gly)
|
rs2037814
|
0.87820
|
|
NM_000466.3(PEX1):c.358-15G>A
|
rs38809
|
0.86650
|
|
NM_000277.3(PAH):c.1155C>G (p.Leu385=)
|
rs772897
|
0.84953
|
|
NM_001173990.3(TMEM216):c.264G>A (p.Pro88=)
|
rs3741265
|
0.84043
|
|
NM_000231.3(SGCG):c.860A>G (p.Asn287Ser)
|
rs1800354
|
0.83747
|
|
NM_022124.6(CDH23):c.4051A>G (p.Asn1351Asp)
|
rs1227065
|
0.79969
|
|
NM_015702.3(MMADHC):c.453G>A (p.Gln151=)
|
rs11545261
|
0.78682
|
|
NM_001384474.1(LOXHD1):c.3463A>G (p.Arg1155Gly)
|
rs1893566
|
0.75216
|
|
NM_206933.4(USH2A):c.12612A>G (p.Thr4204=)
|
rs2797235
|
0.74921
|
|
NM_022124.6(CDH23):c.366T>C (p.Val122=)
|
rs3802720
|
0.74285
|
|
NM_002617.4(PEX10):c.291A>G (p.Thr97=)
|
rs2494598
|
0.74152
|
|
NM_000271.5(NPC1):c.1926G>C (p.Met642Ile)
|
rs1788799
|
0.73957
|
|
NM_138694.4(PKHD1):c.8798-19A>C
|
rs1326605
|
0.73187
|
|
NM_206933.4(USH2A):c.373G>A (p.Ala125Thr)
|
rs10779261
|
0.73169
|
|
NM_022124.6(CDH23):c.4723G>A (p.Ala1575Thr)
|
rs1227051
|
0.73017
|
|
NM_153717.3(EVC):c.2305-8T>C
|
rs1031919
|
0.72106
|
|
NM_153717.3(EVC):c.772T>C (p.Tyr258His)
|
rs6414624
|
0.72068
|
|
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu)
|
rs5219
|
0.72048
|
|
NM_001384140.1(PCDH15):c.706-8C>T
|
rs10740579
|
0.71606
|
|
NM_000525.4(KCNJ11):c.1009G>A (p.Val337Ile)
|
rs5215
|
0.71351
|
|
NM_001130987.2(DYSF):c.1881T>C (p.Asp627=)
|
rs2303596
|
0.71202
|
|
NM_138694.4(PKHD1):c.5909-46A>G
|
rs1266889
|
0.70194
|
|
NM_001130987.2(DYSF):c.2637A>T (p.Ser879=)
|
rs2288355
|
0.69367
|
|
NM_206933.4(USH2A):c.6317T>C (p.Ile2106Thr)
|
rs6657250
|
0.67783
|
|
NM_153717.3(EVC):c.939+10A>G
|
rs2286342
|
0.67122
|
|
NM_024649.5(BBS1):c.*7A>G
|
rs8432
|
0.66464
|
|
NM_022124.6(CDH23):c.2316T>C (p.Asn772=)
|
rs3752752
|
0.62582
|
|
NM_022124.6(CDH23):c.2388T>C (p.Asp796=)
|
rs3752751
|
0.62557
|
|
NM_206933.4(USH2A):c.4457G>A (p.Arg1486Lys)
|
rs1805049
|
0.62414
|
|
NM_206933.4(USH2A):c.504A>G (p.Thr168=)
|
rs4253963
|
0.61366
|
|
NM_000243.3(MEFV):c.942C>T (p.Arg314=)
|
rs224213
|
0.61317
|
|
NM_000231.3(SGCG):c.705T>C (p.Leu235=)
|
rs1800353
|
0.60006
|
|
NM_000260.4(MYO7A):c.4996A>T (p.Ser1666Cys)
|
rs2276288
|
0.59864
|
|
NM_000243.3(MEFV):c.1530T>C (p.Asp510=)
|
rs224206
|
0.59561
|
|
NM_206933.4(USH2A):c.10232A>C (p.Glu3411Ala)
|
rs10864198
|
0.58403
|
|
NM_000243.3(MEFV):c.1428A>G (p.Gln476=)
|
rs224207
|
0.58038
|
|
NM_000260.4(MYO7A):c.3109-68G>A
|
rs2276287
|
0.57823
|
|
NM_000243.3(MEFV):c.1422G>A (p.Glu474=)
|
rs224208
|
0.57768
|
|
NM_000287.4(PEX6):c.2814G>A (p.Glu938=)
|
rs1129186
|
0.56758
|
|
NM_000382.3(ALDH3A2):c.1446A>T (p.Ala482=)
|
rs7216
|
0.56713
|
|
NM_000260.4(MYO7A):c.5715A>G (p.Lys1905=)
|
rs2276293
|
0.56709
|
|
NM_000260.4(MYO7A):c.5857-7A>T
|
rs1320703
|
0.56654
|
|
NM_000492.4(CFTR):c.1680-870T>A
|
rs213965
|
0.55332
|
|
NM_001378454.1(ALMS1):c.12089G>A (p.Arg4030Lys)
|
rs1052161
|
0.54502
|
|
NM_153717.3(EVC):c.1026G>C (p.Leu342=)
|
rs4688962
|
0.52761
|
|
NM_138694.4(PKHD1):c.12143A>G (p.Gln4048Arg)
|
rs9381994
|
0.52715
|
|
NM_138694.4(PKHD1):c.11696A>G (p.Gln3899Arg)
|
rs4715227
|
0.52431
|
|
NM_153676.4(USH1C):c.1188A>G (p.Pro396=)
|
rs2240487
|
0.51629
|
|
NM_002485.5(NBN):c.1197T>C (p.Asp399=)
|
rs709816
|
0.51063
|
|
NM_000260.4(MYO7A):c.783T>C (p.Gly261=)
|
rs762667
|
0.50077
|
|
NM_206933.4(USH2A):c.6506T>C (p.Ile2169Thr)
|
rs10864219
|
0.50009
|
|
NM_138694.4(PKHD1):c.7587G>A (p.Gly2529=)
|
rs12210295
|
0.49949
|
|
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val)
|
rs1805082
|
0.49943
|
|
NM_001378454.1(ALMS1):c.2190C>T (p.Phe730=)
|
rs7598901
|
0.49457
|
|
NM_000243.3(MEFV):c.306T>C (p.Asp102=)
|
rs224225
|
0.48544
|
|
NM_153676.4(USH1C):c.2457G>C (p.Glu819Asp)
|
rs1064074
|
0.48497
|
|
NM_000243.3(MEFV):c.495C>A (p.Ala165=)
|
rs224223
|
0.48450
|
|
NM_001130987.2(DYSF):c.4062C>A (p.Ile1354=)
|
rs2303606
|
0.47852
|
|
NM_000260.4(MYO7A):c.4755C>T (p.Ser1585=)
|
rs7927472
|
0.47702
|
|
NM_001386140.1(MTTP):c.453T>C (p.Gly151=)
|
rs991811
|
0.47516
|
|
NM_000231.3(SGCG):c.312T>G (p.Leu104=)
|
rs1800351
|
0.47318
|
|
NM_001386140.1(MTTP):c.891C>G (p.His297Gln)
|
rs2306985
|
0.47212
|
|
NM_000260.4(MYO7A):c.47T>C (p.Leu16Ser)
|
rs1052030
|
0.47208
|
|
NM_138694.4(PKHD1):c.3629-32A>G
|
rs2499480
|
0.46280
|
|
NM_000271.5(NPC1):c.2793C>T (p.Asn931=)
|
rs1140458
|
0.45824
|
|
NM_138694.4(PKHD1):c.8302+12T>A
|
rs1571084
|
0.45597
|
|
NM_002454.3(MTRR):c.66A>G (p.Ile22Met)
|
rs1801394
|
0.44947
|
|
NM_000543.5(SMPD1):c.107T>C (p.Val36Ala)
|
rs1050228
|
0.44445
|
|
NM_152618.3(BBS12):c.1157G>A (p.Arg386Gln)
|
rs309370
|
0.42071
|
|
NM_138694.4(PKHD1):c.2278C>T (p.Arg760Cys)
|
rs9370096
|
0.41404
|
|
NM_000243.3(MEFV):c.1764G>A (p.Pro588=)
|
rs1231122
|
0.41230
|
|
NM_138694.4(PKHD1):c.3785C>T (p.Ala1262Val)
|
rs9296669
|
0.41087
|
|
NM_138694.4(PKHD1):c.2407+50C>T
|
rs10948667
|
0.41035
|
|
NM_022124.6(CDH23):c.5996C>G (p.Thr1999Ser)
|
rs11592462
|
0.40744
|
|
NM_000287.4(PEX6):c.399G>T (p.Val133=)
|
rs9462858
|
0.40569
|
|
NM_001378454.1(ALMS1):c.6336T>A (p.Ser2112Arg)
|
rs6724782
|
0.40522
|
|
NM_000287.4(PEX6):c.2816C>A (p.Pro939Gln)
|
rs1129187
|
0.40479
|
|
NM_001378454.1(ALMS1):c.5626A>G (p.Ile1876Val)
|
rs6546838
|
0.40153
|
|
NM_001378454.1(ALMS1):c.8481G>T (p.Arg2827Ser)
|
rs2056486
|
0.39967
|
|
NM_001378454.1(ALMS1):c.8570A>G (p.Asn2857Ser)
|
rs10193972
|
0.39950
|
|
NM_001378454.1(ALMS1):c.4244G>C (p.Gly1415Ala)
|
rs6546837
|
0.39736
|
|
NM_138694.4(PKHD1):c.7734-4T>C
|
rs7452724
|
0.39369
|
|
NM_138694.4(PKHD1):c.7733+33C>T
|
rs9382044
|
0.39361
|
|
NM_138694.4(PKHD1):c.7764A>G (p.Leu2588=)
|
rs9349603
|
0.39323
|
|
NM_001378454.1(ALMS1):c.12175C>T (p.Leu4059=)
|
rs1052162
|
0.38498
|
|
NM_001378454.1(ALMS1):c.4179A>G (p.Gln1393=)
|
rs6546836
|
0.38173
|
|
NM_001378454.1(ALMS1):c.6854G>C (p.Arg2285Pro)
|
rs6546839
|
0.38002
|
|
NM_001692.4(ATP6V1B1):c.1002C>T (p.Arg334=)
|
rs2072462
|
0.37260
|
|
NM_000057.4(BLM):c.2555+7T>C
|
rs3815003
|
0.37072
|
|
NM_014363.6(SACS):c.9981T>C (p.Ala3327=)
|
rs2737700
|
0.36123
|
|
NM_000287.4(PEX6):c.883-3T>C
|
rs9986447
|
0.36088
|
|
NM_206933.4(USH2A):c.12666A>G (p.Thr4222=)
|
rs2797234
|
0.33929
|
|
NM_153717.3(EVC):c.939+4C>T
|
rs2286343
|
0.33466
|
|
NM_138694.4(PKHD1):c.8441-32G>C
|
rs3920621
|
0.33143
|
|
NM_002485.5(NBN):c.102G>A (p.Leu34=)
|
rs1063045
|
0.32752
|
|
NM_002485.5(NBN):c.1915-7A>G
|
rs2308962
|
0.32733
|
|
NM_003384.3(VRK1):c.705C>T (p.Gly235=)
|
rs2230532
|
0.32707
|
|
NM_003384.3(VRK1):c.45A>G (p.Ala15=)
|
rs2145635
|
0.32398
|
|
NM_138694.4(PKHD1):c.9998+49A>G
|
rs2397060
|
0.32325
|
|
NM_002454.3(MTRR):c.524C>T (p.Ser175Leu)
|
rs1532268
|
0.31601
|
|
NM_000360.4(TH):c.241G>A (p.Val81Met)
|
rs6356
|
0.31555
|
|
NM_002454.3(MTRR):c.1911G>A (p.Ala637=)
|
rs1802059
|
0.31218
|
|
NM_001384474.1(LOXHD1):c.6293C>T (p.Ala2098Val)
|
rs1377016
|
0.30620
|
|
NM_001378454.1(ALMS1):c.9561C>T (p.Thr3187=)
|
rs11884776
|
0.30410
|
|
NM_002485.5(NBN):c.553G>C (p.Glu185Gln)
|
rs1805794
|
0.30329
|
|
NM_002485.5(NBN):c.2016A>G (p.Pro672=)
|
rs1061302
|
0.30090
|
|
NM_138694.4(PKHD1):c.234C>T (p.Asp78=)
|
rs9474143
|
0.29769
|
|
NM_000271.5(NPC1):c.644A>G (p.His215Arg)
|
rs1805081
|
0.29390
|
|
NM_022124.6(CDH23):c.7073G>A (p.Arg2358Gln)
|
rs4747194
|
0.28536
|
|
NM_022124.6(CDH23):c.6130G>A (p.Glu2044Lys)
|
rs10466026
|
0.28442
|
|
NM_206933.4(USH2A):c.1419C>T (p.Thr473=)
|
rs1805050
|
0.28143
|
|
NM_000019.4(ACAT1):c.13G>C (p.Ala5Pro)
|
rs3741056
|
0.27945
|
|
NM_022124.6(CDH23):c.7139C>T (p.Pro2380Leu)
|
rs4747195
|
0.27841
|
|
NM_000360.4(TH):c.977+8C>G
|
rs12419447
|
0.27597
|
|
NM_138694.4(PKHD1):c.527+19T>C
|
rs9474140
|
0.27509
|
|
NM_022124.6(CDH23):c.7572G>A (p.Ala2524=)
|
rs10823849
|
0.27322
|
|
NM_022124.6(CDH23):c.1487G>A (p.Ser496Asn)
|
rs10999947
|
0.27136
|
|
NM_153717.3(EVC):c.1068A>G (p.Leu356=)
|
rs33929747
|
0.26691
|
|
NM_001134793.2(HYLS1):c.91T>C (p.Cys31Arg)
|
rs667782
|
0.26652
|
|
NM_000019.4(ACAT1):c.-9T>A
|
rs3741055
|
0.26111
|
|
NM_001386140.1(MTTP):c.383T>C (p.Ile128Thr)
|
rs3816873
|
0.26064
|
|
NM_000260.4(MYO7A):c.6318G>A (p.Lys2106=)
|
rs11237123
|
0.24897
|
|
NM_024649.5(BBS1):c.724-8G>C
|
rs10896125
|
0.24158
|
|
NM_000360.4(TH):c.720G>A (p.Lys240=)
|
rs6357
|
0.23916
|
|
NM_001384140.1(PCDH15):c.1263T>C (p.Thr421=)
|
rs7921598
|
0.23801
|
|
NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=)
|
rs17718530
|
0.23571
|
|
NM_001384474.1(LOXHD1):c.6183-11del
|
rs143514947
|
0.23567
|
|
NM_000070.3(CAPN3):c.706G>A (p.Ala236Thr)
|
rs1801449
|
0.23274
|
|
NM_000525.4(KCNJ11):c.570C>T (p.Ala190=)
|
rs5218
|
0.22765
|
|
NM_001384140.1(PCDH15):c.2786G>A (p.Arg929Gln)
|
rs2135720
|
0.22399
|
|
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_000277.3(PAH):c.168+19T>C
|
rs17842947
|
0.21168
|
|
NM_024649.5(BBS1):c.378G>A (p.Leu126=)
|
rs2298806
|
0.21158
|
|
NM_153676.4(USH1C):c.2340C>T (p.Val780=)
|
rs10832796
|
0.21080
|
|
NM_002454.3(MTRR):c.537T>C (p.Leu179=)
|
rs161870
|
0.20980
|
|
NM_002454.3(MTRR):c.1049A>G (p.Lys350Arg)
|
rs162036
|
0.20973
|
|
NM_031885.5(BBS2):c.367A>G (p.Ile123Val)
|
rs11373
|
0.20545
|
|
NM_001384140.1(PCDH15):c.55T>G (p.Ser19Ala)
|
rs11004439
|
0.20535
|
|
NM_206933.4(USH2A):c.3812-8T>G
|
rs646094
|
0.20360
|
|
NM_022124.6(CDH23):c.1469G>C (p.Gly490Ala)
|
rs1227049
|
0.20047
|
|
NM_022124.6(CDH23):c.5100C>T (p.Tyr1700=)
|
rs10762480
|
0.19882
|
|
NM_000277.3(PAH):c.735G>A (p.Val245=)
|
rs1042503
|
0.19782
|
|
NM_000543.5(SMPD1):c.1522G>A (p.Gly508Arg)
|
rs1050239
|
0.19762
|
|
NM_206933.4(USH2A):c.11504C>T (p.Thr3835Ile)
|
rs11120616
|
0.19146
|
|
NM_152618.3(BBS12):c.1410C>T (p.Cys470=)
|
rs13135445
|
0.19015
|
|
NM_001130987.2(DYSF):c.4026C>T (p.Asn1342=)
|
rs11558179
|
0.18595
|
|
NM_002454.3(MTRR):c.1783C>T (p.His595Tyr)
|
rs10380
|
0.18188
|
|
NM_024649.5(BBS1):c.1413C>T (p.Leu471=)
|
rs3816492
|
0.17957
|
|
NM_001127671.2(LIFR):c.2353G>A (p.Val785Ile)
|
rs3110234
|
0.17829
|
|
NR_003051.4(RMRP):n.179C>T
|
rs7021642
|
0.17814
|
|
NM_001692.4(ATP6V1B1):c.138C>T (p.Ser46=)
|
rs2266918
|
0.17658
|
|
NM_000057.4(BLM):c.3102G>A (p.Thr1034=)
|
rs2227933
|
0.17570
|
|
NR_003051.4(RMRP):n.158G>C
|
rs7021463
|
0.17549
|
|
NM_206933.4(USH2A):c.11946G>A (p.Leu3982=)
|
rs2820718
|
0.17214
|
|
NM_206933.4(USH2A):c.5013C>A (p.Gly1671=)
|
rs56110889
|
0.16907
|
|
NM_000019.4(ACAT1):c.471C>A (p.Ser157=)
|
rs35188041
|
0.16806
|
|
NM_000057.4(BLM):c.3358+32T>G
|
rs17273842
|
0.16733
|
|
NM_001692.4(ATP6V1B1):c.89C>T (p.Thr30Ile)
|
rs17720303
|
0.16644
|
|
NM_000057.4(BLM):c.2308-50G>A
|
rs17273206
|
0.16462
|
|
NM_152618.3(BBS12):c.1380G>C (p.Val460=)
|
rs13135766
|
0.16051
|
|
NM_001384140.1(PCDH15):c.1304A>C (p.Asp435Ala)
|
rs4935502
|
0.15952
|
|
NM_000329.3(RPE65):c.1056G>A (p.Glu352=)
|
rs12145904
|
0.15903
|
|
NM_152618.3(BBS12):c.1399G>A (p.Asp467Asn)
|
rs13135778
|
0.15902
|
|
NM_152618.3(BBS12):c.1872A>G (p.Gln624=)
|
rs13102440
|
0.15807
|
|
NM_000057.4(BLM):c.3945C>T (p.Leu1315=)
|
rs1063147
|
0.15526
|
|
NM_000057.4(BLM):c.3531C>A (p.Ala1177=)
|
rs2227934
|
0.15517
|
|
NM_022124.6(CDH23):c.9077+8G>A
|
rs11818398
|
0.15161
|
|
NM_000231.3(SGCG):c.228T>C (p.Asp76=)
|
rs1800350
|
0.15152
|
|
NM_022124.6(CDH23):c.3009T>C (p.Ser1003=)
|
rs10823829
|
0.15109
|
|
NM_000543.5(SMPD1):c.636T>C (p.Asp212=)
|
rs7951904
|
0.15081
|
|
NM_206933.4(USH2A):c.13191G>A (p.Glu4397=)
|
rs2009923
|
0.15011
|
|
NM_022124.6(CDH23):c.5503-10A>G
|
rs2394839
|
0.14568
|
|
NM_022124.6(CDH23):c.5023G>A (p.Val1675Ile)
|
rs17712523
|
0.14536
|
|
NM_001130987.2(DYSF):c.396C>T (p.Pro132=)
|
rs34603128
|
0.14353
|
|
NM_022124.6(CDH23):c.5411G>A (p.Arg1804Gln)
|
rs3802711
|
0.14136
|
|
NM_138694.4(PKHD1):c.11786-30C>T
|
rs9395699
|
0.14058
|
|
NM_152618.3(BBS12):c.1398C>T (p.Gly466=)
|
rs2292493
|
0.13826
|
|
NM_001378454.1(ALMS1):c.6212T>C (p.Ile2071Thr)
|
rs10496192
|
0.13807
|
|
NM_014363.6(SACS):c.171+6C>T
|
rs3751368
|
0.13441
|
|
NM_001378454.1(ALMS1):c.7724G>A (p.Ser2575Asn)
|
rs3820700
|
0.13432
|
|
NM_001039958.2(MESP2):c.573G>A (p.Gly191=)
|
rs113097169
|
0.13255
|
|
NM_000271.5(NPC1):c.387T>C (p.Tyr129=)
|
rs12970899
|
0.13133
|
|
NM_001378454.1(ALMS1):c.8017G>C (p.Asp2673His)
|
rs2017116
|
0.13007
|
|
NM_138694.4(PKHD1):c.1234-10T>A
|
rs4715272
|
0.12902
|
|
NM_000492.4(CFTR):c.3140-92T>C
|
rs4148717
|
0.12640
|
|
NM_033056.4(PCDH15):c.4581C>A (p.Pro1527=)
|
rs10825114
|
0.12444
|
|
NM_000466.3(PEX1):c.-137T>C
|
rs12386601
|
0.12381
|
|
NM_022124.6(CDH23):c.7C>T (p.Arg3Cys)
|
rs7902757
|
0.12266
|
|
NM_001386140.1(MTTP):c.522T>C (p.Cys174=)
|
rs982424
|
0.12209
|
|
NM_174878.3(CLRN1):c.57A>T (p.Ala19=)
|
rs3796242
|
0.12205
|
|
NM_152443.3(RDH12):c.482G>A (p.Arg161Gln)
|
rs17852293
|
0.12044
|
|
NM_025114.4(CEP290):c.2055T>C (p.Ala685=)
|
rs45465996
|
0.11965
|
|
NM_001692.4(ATP6V1B1):c.27T>C (p.Pro9=)
|
rs17853498
|
0.11527
|
|
NM_022124.6(CDH23):c.8895C>T (p.Pro2965=)
|
rs11000009
|
0.10990
|
|
NM_001386140.1(MTTP):c.969T>C (p.Ala323=)
|
rs17533489
|
0.10642
|
|
NM_000271.5(NPC1):c.3797G>A (p.Arg1266Gln)
|
rs1805084
|
0.10225
|
|
NM_206933.4(USH2A):c.4994T>C (p.Ile1665Thr)
|
rs56222536
|
0.10108
|
|
NM_001017420.3(ESCO2):c.239C>T (p.Ala80Val)
|
rs4732748
|
0.10090
|
|
NM_153717.3(EVC):c.249A>G (p.Ser83=)
|
rs35870680
|
0.09998
|
|
NM_000231.3(SGCG):c.347G>A (p.Arg116His)
|
rs17314986
|
0.09986
|
|
NM_001130987.2(DYSF):c.951+4T>C
|
rs11903960
|
0.09951
|
|
NM_152618.3(BBS12):c.1200G>A (p.Val400=)
|
rs309371
|
0.09713
|
|
NM_001384474.1(LOXHD1):c.2473G>A (p.Val825Met)
|
rs36086089
|
0.09592
|
|
NM_001384140.1(PCDH15):c.157+3A>G
|
rs41274636
|
0.09581
|
|
NM_000070.3(CAPN3):c.96T>C (p.Thr32=)
|
rs1801496
|
0.09551
|
|
NM_006118.4(HAX1):c.159T>C (p.Ser53=)
|
rs13796
|
0.09423
|
|
NM_138694.4(PKHD1):c.214C>T (p.Leu72=)
|
rs6901799
|
0.09338
|
|
NM_001384474.1(LOXHD1):c.2175C>T (p.Asn725=)
|
rs2086005
|
0.09206
|
|
NM_001386140.1(MTTP):c.294G>C (p.Glu98Asp)
|
rs2306986
|
0.08726
|
|
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=)
|
rs2290021
|
0.08719
|
|
NM_002617.4(PEX10):c.913-4G>A
|
rs11586985
|
0.08566
|
|
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_001386140.1(MTTP):c.497A>G (p.Asn166Ser)
|
rs3792683
|
0.08314
|
|
NM_022124.6(CDH23):c.-1C>T
|
rs41281302
|
0.08269
|
|
NM_000057.4(BLM):c.3961G>A (p.Val1321Ile)
|
rs7167216
|
0.08093
|
|
NM_001173990.3(TMEM216):c.-2G>T
|
rs7107543
|
0.08005
|
|
NM_153717.3(EVC):c.221A>C (p.Gln74Pro)
|
rs2291157
|
0.07908
|
|
NM_000466.3(PEX1):c.-53C>G
|
rs12386703
|
0.07798
|
|
NM_206933.4(USH2A):c.7506G>A (p.Pro2502=)
|
rs12404427
|
0.07727
|
|
NM_138694.4(PKHD1):c.2046A>C (p.Pro682=)
|
rs4715271
|
0.07716
|
|
NM_000492.4(CFTR):c.869+11C>T
|
rs1800503
|
0.07590
|
|
NM_001386140.1(MTTP):c.39C>G (p.Ser13=)
|
rs7667001
|
0.07507
|
|
NM_022124.6(CDH23):c.1053C>T (p.Ser351=)
|
rs7903475
|
0.07481
|
|
NM_004004.6(GJB2):c.-22-12C>T
|
rs9578260
|
0.07478
|
|
NM_001386140.1(MTTP):c.1151A>C (p.Asp384Ala)
|
rs17029215
|
0.07361
|
|
NM_001386140.1(MTTP):c.933C>A (p.Thr311=)
|
rs17029213
|
0.07360
|
|
NM_001386140.1(MTTP):c.1769+9C>T
|
rs34734558
|
0.07357
|
|
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val)
|
rs35830695
|
0.07353
|
|
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln)
|
rs35953626
|
0.07232
|
|
NM_000057.4(BLM):c.2193+61G>C
|
rs28385029
|
0.07054
|
|
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_152618.3(BBS12):c.51A>G (p.Gln17=)
|
rs17006077
|
0.06714
|
|
NM_138694.4(PKHD1):c.10521C>T (p.His3507=)
|
rs34460237
|
0.06613
|
|
NM_000784.4(CYP27A1):c.438G>A (p.Pro146=)
|
rs692003
|
0.06494
|
|
NM_001039958.2(MESP2):c.412G>A (p.Val138Met)
|
rs28462216
|
0.06491
|
|
NM_001130987.2(DYSF):c.1038C>T (p.His346=)
|
rs36122356
|
0.06463
|
|
NM_153717.3(EVC):c.1115C>T (p.Thr372Met)
|
rs28483498
|
0.06438
|
|
NM_000260.4(MYO7A):c.593-5C>T
|
rs762666
|
0.06264
|
|
NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg)
|
rs696723
|
0.06184
|
|
NM_000287.4(PEX6):c.2364G>A (p.Val788=)
|
rs2274515
|
0.06152
|
|
NM_001378454.1(ALMS1):c.3894A>G (p.Gln1298=)
|
rs112034360
|
0.06109
|
|
NM_153717.3(EVC):c.341C>T (p.Ala114Val)
|
rs16837598
|
0.05943
|
|
NM_001384474.1(LOXHD1):c.1087G>A (p.Val363Ile)
|
rs10163657
|
0.05881
|
|
NM_138694.4(PKHD1):c.8643-24A>G
|
rs2766125
|
0.05514
|
|
NM_024685.4(BBS10):c.1616C>T (p.Pro539Leu)
|
rs35676114
|
0.05430
|
|
NM_138694.4(PKHD1):c.8174-49G>C
|
rs12527920
|
0.05408
|
|
NM_206933.4(USH2A):c.9595A>G (p.Asn3199Asp)
|
rs4129843
|
0.05402
|
|
NM_025114.4(CEP290):c.3710G>A (p.Arg1237His)
|
rs7307793
|
0.05381
|
|
NM_138694.4(PKHD1):c.8173+37G>A
|
rs12523900
|
0.05319
|
|
NM_000070.3(CAPN3):c.606T>C (p.Ser202=)
|
rs17593
|
0.05293
|
|
NM_025114.4(CEP290):c.2512A>G (p.Lys838Glu)
|
rs11104738
|
0.05247
|
|
NM_138694.4(PKHD1):c.8302+18A>G
|
rs12529717
|
0.05228
|
|
NM_002617.4(PEX10):c.279C>T (p.Gly93=)
|
rs1143016
|
0.05120
|
|
NM_001039958.2(MESP2):c.558G>A (p.Gln186=)
|
rs28546919
|
0.05106
|
|
NM_138694.4(PKHD1):c.1587T>C (p.Asn529=)
|
rs62406036
|
0.05014
|
|
NM_138694.4(PKHD1):c.2489A>G (p.Asn830Ser)
|
rs62406032
|
0.05010
|
|
NM_001386140.1(MTTP):c.285G>C (p.Gln95His)
|
rs61733139
|
0.04959
|
|
NM_138694.4(PKHD1):c.11509G>A (p.Val3837Ile)
|
rs9474034
|
0.04948
|
|
NM_206933.4(USH2A):c.1931A>T (p.Asp644Val)
|
rs1805048
|
0.04940
|
|
NM_001039958.2(MESP2):c.531G>A (p.Ala177=)
|
rs75049807
|
0.04869
|
|
NM_000260.4(MYO7A):c.5156A>G (p.Tyr1719Cys)
|
rs77625410
|
0.04825
|
|
NM_206933.4(USH2A):c.8656C>T (p.Leu2886Phe)
|
rs41277200
|
0.04760
|
|
NM_001384474.1(LOXHD1):c.6584G>A (p.Arg2195His)
|
rs74316327
|
0.04745
|
|
NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala)
|
rs41281314
|
0.04612
|
|
NM_206933.4(USH2A):c.15522T>C (p.Tyr5174=)
|
rs77792891
|
0.04524
|
|
NM_138694.4(PKHD1):c.11507-21A>G
|
rs2174860
|
0.04499
|
|
NM_138694.4(PKHD1):c.11714T>A (p.Ile3905Asn)
|
rs2661488
|
0.04490
|
|
NM_000277.3(PAH):c.1278T>C (p.Asn426=)
|
rs59326968
|
0.04425
|
|
NM_206933.4(USH2A):c.11736G>A (p.Glu3912=)
|
rs56053654
|
0.04404
|
|
NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly)
|
rs17154335
|
0.04399
|
|
NM_206933.4(USH2A):c.11907A>T (p.Pro3969=)
|
rs61635304
|
0.04389
|
|
NM_001130987.2(DYSF):c.2554A>G (p.Ile852Val)
|
rs34671418
|
0.04349
|
|
NM_025114.4(CEP290):c.2717T>G (p.Leu906Trp)
|
rs7970228
|
0.04262
|
|
NM_002454.3(MTRR):c.1243C>T (p.Arg415Cys)
|
rs2287780
|
0.04230
|
|
NM_006019.4(TCIRG1):c.166C>T (p.Arg56Trp)
|
rs36027301
|
0.04199
|
|
NM_206933.4(USH2A):c.9296A>G (p.Asn3099Ser)
|
rs41277194
|
0.04165
|
|
NM_000466.3(PEX1):c.358-11G>C
|
rs113104510
|
0.04153
|
|
NM_206933.4(USH2A):c.6587G>C (p.Ser2196Thr)
|
rs79444516
|
0.04057
|
|
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu)
|
rs45583140
|
0.04021
|
|
NM_001386140.1(MTTP):c.730C>G (p.Gln244Glu)
|
rs17599091
|
0.03958
|
|
NM_022124.6(CDH23):c.4509C>T (p.Gly1503=)
|
rs10999978
|
0.03956
|
|
NM_000360.4(TH):c.210T>C (p.Ala70=)
|
rs7950050
|
0.03941
|
|
NM_001127671.2(LIFR):c.346C>T (p.His116Tyr)
|
rs3729734
|
0.03927
|
|
NM_000317.3(PTS):c.405T>C (p.Thr135=)
|
rs59731976
|
0.03898
|
|
NM_138694.4(PKHD1):c.3756G>C (p.Leu1252=)
|
rs9689306
|
0.03897
|
|
NM_002454.3(MTRR):c.903+518T>A
|
rs77578255
|
0.03893
|
|
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val)
|
rs1800467
|
0.03859
|
|
NM_002454.3(MTRR):c.1349C>G (p.Pro450Arg)
|
rs16879334
|
0.03856
|
|
NM_022124.6(CDH23):c.6847G>A (p.Val2283Ile)
|
rs41281334
|
0.03832
|
|
NM_174878.3(CLRN1):c.6A>C (p.Pro2=)
|
rs111033422
|
0.03830
|
|
NM_033056.4(PCDH15):c.5707A>G (p.Ile1903Val)
|
rs79854148
|
0.03803
|
|
NM_138694.4(PKHD1):c.11340T>C (p.Pro3780=)
|
rs17667728
|
0.03744
|
|
NM_022124.6(CDH23):c.4310G>A (p.Arg1437Gln)
|
rs56181447
|
0.03706
|
|
NM_000070.3(CAPN3):c.1746-64C>T
|
rs17764849
|
0.03691
|
|
NM_000492.4(CFTR):c.743+40A>G
|
rs1800502
|
0.03675
|
|
NM_000543.5(SMPD1):c.714A>G (p.Ala238=)
|
rs2682091
|
0.03664
|
|
NM_000318.3(PEX2):c.24G>A (p.Ala8=)
|
rs9298285
|
0.03660
|
|
NM_001378454.1(ALMS1):c.9782-9C>T
|
rs10199680
|
0.03656
|
|
NM_007259.5(VPS45):c.1032A>G (p.Glu344=)
|
rs74127419
|
0.03652
|
|
NM_007259.5(VPS45):c.246T>G (p.Ile82Met)
|
rs62622370
|
0.03643
|
|
NM_000329.3(RPE65):c.246-46G>A
|
rs3790471
|
0.03558
|
|
NM_206933.4(USH2A):c.9430G>A (p.Asp3144Asn)
|
rs11120645
|
0.03545
|
|
NM_152618.3(BBS12):c.1286G>C (p.Ser429Thr)
|
rs7665271
|
0.03441
|
|
NM_031885.5(BBS2):c.1659+3A>G
|
rs6499838
|
0.03415
|
|
NM_000466.3(PEX1):c.473-18G>A
|
rs2066743
|
0.03344
|
|
NM_014363.6(SACS):c.909A>G (p.Ala303=)
|
rs41315020
|
0.03313
|
|
NM_000070.3(CAPN3):c.1029+3A>G
|
rs28364442
|
0.03285
|
|
NM_001130987.2(DYSF):c.1914C>T (p.Tyr638=)
|
rs35721373
|
0.03282
|
|
NM_206933.4(USH2A):c.9343A>G (p.Thr3115Ala)
|
rs56032526
|
0.03269
|
|
NM_001130987.2(DYSF):c.666T>C (p.Pro222=)
|
rs35392229
|
0.03244
|
|
NM_153717.3(EVC):c.1096C>T (p.Leu366=)
|
rs6854138
|
0.03243
|
|
NM_152618.3(BBS12):c.1209G>A (p.Val403=)
|
rs17006092
|
0.03229
|
|
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys)
|
rs35520756
|
0.03206
|
|
NM_138694.4(PKHD1):c.5896C>T (p.Leu1966=)
|
rs1266923
|
0.03202
|
|
NM_152618.3(BBS12):c.1062G>C (p.Val354=)
|
rs34296401
|
0.03153
|
|
NM_000260.4(MYO7A):c.468C>T (p.Ile156=)
|
rs12420129
|
0.03116
|
|
NM_206933.4(USH2A):c.8624G>A (p.Arg2875Gln)
|
rs12118814
|
0.03107
|
|
NM_000260.4(MYO7A):c.6424G>A (p.Asp2142Asn)
|
rs1132036
|
0.03072
|
|
NM_000260.4(MYO7A):c.6063G>A (p.Lys2021=)
|
rs111033209
|
0.03064
|
|
NM_002454.3(MTRR):c.769T>A (p.Ser257Thr)
|
rs2303080
|
0.03048
|
|
NM_206933.4(USH2A):c.10836C>A (p.Val3612=)
|
rs61276761
|
0.02977
|
|
NM_001692.4(ATP6V1B1):c.654C>T (p.Asp218=)
|
rs116139984
|
0.02971
|
|
NM_001384140.1(PCDH15):c.1910A>G (p.Asn637Ser)
|
rs61731389
|
0.02908
|
|
NM_001692.4(ATP6V1B1):c.1248+9A>G
|
rs78140305
|
0.02887
|
|
NM_000277.3(PAH):c.707-7A>T
|
rs62508624
|
0.02868
|
|
NM_014363.6(SACS):c.1839G>A (p.Gln613=)
|
rs35840595
|
0.02863
|
|
NM_152618.3(BBS12):c.1847G>A (p.Ser616Asn)
|
rs28507107
|
0.02805
|
|
NM_000360.4(TH):c.186G>A (p.Ser62=)
|
rs34510659
|
0.02696
|
|
NM_000466.3(PEX1):c.2584-20T>A
|
rs111535201
|
0.02687
|
|
NM_000360.4(TH):c.1401C>T (p.Asp467=)
|
rs3842724
|
0.02616
|
|
NM_001130987.2(DYSF):c.3119G>A (p.Arg1040Gln)
|
rs34211915
|
0.02614
|
|
NM_001039958.2(MESP2):c.671C>T (p.Ser224Phe)
|
rs71647807
|
0.02596
|
|
NM_153676.4(USH1C):c.651A>G (p.Val217=)
|
rs75977878
|
0.02584
|
|
NM_000466.3(PEX1):c.2088A>G (p.Ile696Met)
|
rs35996821
|
0.02553
|
|
NM_000318.3(PEX2):c.733G>A (p.Ala245Thr)
|
rs112108739
|
0.02536
|
|
NM_000466.3(PEX1):c.3439-14_3439-13del
|
rs150005994
|
0.02536
|
|
NM_014363.6(SACS):c.2080G>A (p.Ala694Thr)
|
rs17325713
|
0.02528
|
|
NM_152618.3(BBS12):c.1381A>C (p.Asn461His)
|
rs10027479
|
0.02523
|
|
NM_000260.4(MYO7A):c.6240C>T (p.Ser2080=)
|
rs41298757
|
0.02519
|
|
NM_001692.4(ATP6V1B1):c.481G>A (p.Glu161Lys)
|
rs114234874
|
0.02502
|
|
NM_001130987.2(DYSF):c.2856G>A (p.Pro952=)
|
rs34836829
|
0.02488
|
|
NM_138694.4(PKHD1):c.1736C>T (p.Thr579Met)
|
rs45500692
|
0.02436
|
|
NM_000441.2(SLC26A4):c.1708-18T>A
|
rs55701254
|
0.02432
|
|
NM_022124.6(CDH23):c.6492C>T (p.Ile2164=)
|
rs41281332
|
0.02419
|
|
NM_014363.6(SACS):c.11032C>G (p.Pro3678Ala)
|
rs17078601
|
0.02418
|
|
NM_000329.3(RPE65):c.1301C>T (p.Ala434Val)
|
rs34627040
|
0.02403
|
|
NM_025114.4(CEP290):c.4119A>G (p.Lys1373=)
|
rs117122459
|
0.02390
|
|
NM_001384140.1(PCDH15):c.960A>G (p.Pro320=)
|
rs41274634
|
0.02389
|
|
NM_000260.4(MYO7A):c.4589C>T (p.Ser1530Leu)
|
rs111033183
|
0.02384
|
|
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_000260.4(MYO7A):c.3828G>A (p.Ser1276=)
|
rs78871677
|
0.02377
|
|
NM_000492.4(CFTR):c.3468+2109T>C
|
rs213982
|
0.02368
|
|
NM_001386140.1(MTTP):c.1981G>A (p.Gly661Ser)
|
rs113337987
|
0.02355
|
|
NM_001386140.1(MTTP):c.660T>C (p.Tyr220=)
|
rs113557405
|
0.02353
|
|
NM_000543.5(SMPD1):c.*74A>C
|
rs1803160
|
0.02334
|
|
NM_153676.4(USH1C):c.294C>T (p.Leu98=)
|
rs34055234
|
0.02295
|
|
NM_001378454.1(ALMS1):c.11054G>A (p.Ser3685Asn)
|
rs11896293
|
0.02293
|
|
NM_001378454.1(ALMS1):c.5786G>A (p.Arg1929Gln)
|
rs17009061
|
0.02260
|
|
NM_001378454.1(ALMS1):c.4962G>T (p.Lys1654Asn)
|
rs28730853
|
0.02251
|
|
NM_001378454.1(ALMS1):c.10209T>A (p.Thr3403=)
|
rs34617744
|
0.02246
|
|
NM_001130987.2(DYSF):c.661C>G (p.Leu221Val)
|
rs13407355
|
0.02232
|
|
NM_206933.4(USH2A):c.14481C>T (p.Ala4827=)
|
rs41304083
|
0.02229
|
|
NM_004004.6(GJB2):c.79G>A (p.Val27Ile)
|
rs2274084
|
0.02218
|
|
NM_000260.4(MYO7A):c.288G>A (p.Thr96=)
|
rs56023295
|
0.02179
|
|
NM_024649.5(BBS1):c.1349G>A (p.Arg450Gln)
|
rs77298332
|
0.02147
|
|
NM_000287.4(PEX6):c.207C>T (p.Pro69=)
|
rs11539736
|
0.02141
|
|
NM_022124.6(CDH23):c.6249G>A (p.Pro2083=)
|
rs55964031
|
0.02131
|
|
NM_000260.4(MYO7A):c.4023C>T (p.Pro1341=)
|
rs73495790
|
0.02130
|
|
NM_001384140.1(PCDH15):c.3374-4C>T
|
rs111739360
|
0.02123
|
|
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln)
|
rs3743930
|
0.02112
|
|
NM_001378454.1(ALMS1):c.11266G>A (p.Gly3756Ser)
|
rs34927702
|
0.02105
|
|
NM_001378454.1(ALMS1):c.11523G>A (p.Glu3841=)
|
rs35760114
|
0.02099
|
|
NM_138694.4(PKHD1):c.1694-32C>G
|
rs12196276
|
0.02096
|
|
NM_001122769.3(LCA5):c.197G>A (p.Arg66Gln)
|
rs35338066
|
0.02087
|
|
NM_000287.4(PEX6):c.2644G>A (p.Val882Ile)
|
rs2274516
|
0.02086
|
|
NM_000441.2(SLC26A4):c.2130C>T (p.Asp710=)
|
rs17154347
|
0.02079
|
|
NM_031885.5(BBS2):c.1511C>T (p.Ala504Val)
|
rs16957538
|
0.02076
|
|
NM_001130987.2(DYSF):c.4122C>T (p.Ser1374=)
|
rs2303607
|
0.02075
|
|
NM_001384474.1(LOXHD1):c.966G>C (p.Gly322=)
|
rs114082868
|
0.02057
|
|
NM_022124.6(CDH23):c.9978C>T (p.Asn3326=)
|
rs73277900
|
0.02056
|
|
NM_138694.4(PKHD1):c.1234-39C>G
|
rs115660674
|
0.02051
|
|
NM_025114.4(CEP290):c.1991A>G (p.Asp664Gly)
|
rs79705698
|
0.02050
|
|
NM_022124.6(CDH23):c.3664G>A (p.Ala1222Thr)
|
rs41281316
|
0.02047
|
|
NM_206933.4(USH2A):c.573A>G (p.Val191=)
|
rs73102592
|
0.02039
|
|
NM_002485.5(NBN):c.2082T>G (p.Pro694=)
|
rs7823648
|
0.02020
|
|
NM_206933.4(USH2A):c.6875G>A (p.Arg2292His)
|
rs41277210
|
0.02015
|
|
NM_000271.5(NPC1):c.1554-1021A>T
|
rs73392141
|
0.02008
|
|
NM_206933.4(USH2A):c.6713A>C (p.Glu2238Ala)
|
rs41277212
|
0.01991
|
|
NM_138694.4(PKHD1):c.8950+44A>G
|
rs58823342
|
0.01939
|
|
NM_152618.3(BBS12):c.378G>T (p.Glu126Asp)
|
rs309369
|
0.01932
|
|
NM_138694.4(PKHD1):c.5236+14A>G
|
rs12210725
|
0.01912
|
|
NM_000260.4(MYO7A):c.6640G>A (p.Gly2214Ser)
|
rs111033231
|
0.01911
|
|
NM_000260.4(MYO7A):c.4950C>T (p.Asn1650=)
|
rs80033599
|
0.01906
|
|
NM_000543.5(SMPD1):c.106_107insCGC (p.Val36delinsAlaLeu)
|
rs767539123
|
0.01904
|
|
NM_002617.4(PEX10):c.820A>G (p.Thr274Ala)
|
rs34154371
|
0.01899
|
|
NM_206933.4(USH2A):c.13297G>T (p.Val4433Leu)
|
rs111033381
|
0.01895
|
|
NM_000260.4(MYO7A):c.2035G>A (p.Val679Ile)
|
rs35641839
|
0.01879
|
|
NM_002485.5(NBN):c.1914+9C>T
|
rs13312938
|
0.01874
|
|
NM_000243.3(MEFV):c.-614C>G
|
rs11466012
|
0.01850
|
|
NM_000543.5(SMPD1):c.1749G>A (p.Ser583=)
|
rs35098198
|
0.01843
|
|
NM_138694.4(PKHD1):c.9577G>A (p.Val3193Ile)
|
rs35445653
|
0.01835
|
|
NM_138694.4(PKHD1):c.8108-16G>C
|
rs73442356
|
0.01832
|
|
NM_002454.3(MTRR):c.1536C>T (p.Ser512=)
|
rs34172797
|
0.01824
|
|
NM_001378454.1(ALMS1):c.4154C>G (p.Thr1385Arg)
|
rs115517108
|
0.01785
|
|
NM_000070.3(CAPN3):c.78G>A (p.Pro26=)
|
rs62642519
|
0.01774
|
|
NM_001378454.1(ALMS1):c.10303A>G (p.Lys3435Glu)
|
rs34071195
|
0.01772
|
|
NM_001378454.1(ALMS1):c.5169A>G (p.Gln1723=)
|
rs75434052
|
0.01769
|
|
NM_206933.4(USH2A):c.8682-53A>G
|
rs115882431
|
0.01767
|
|
NM_000260.4(MYO7A):c.5619G>A (p.Arg1873=)
|
rs45450893
|
0.01749
|
|
NM_001378454.1(ALMS1):c.10335C>T (p.Pro3445=)
|
rs78108069
|
0.01749
|
|
NM_001130987.2(DYSF):c.1465G>A (p.Glu489Lys)
|
rs61740288
|
0.01748
|
|
NM_022124.6(CDH23):c.2424G>A (p.Gly808=)
|
rs76601590
|
0.01745
|
|
NM_022124.6(CDH23):c.2958G>A (p.Leu986=)
|
rs74702249
|
0.01745
|
|
NM_022124.6(CDH23):c.7467C>T (p.Arg2489=)
|
rs111033289
|
0.01726
|
|
NM_022124.6(CDH23):c.4299T>A (p.Pro1433=)
|
rs12218559
|
0.01724
|
|
NM_001692.4(ATP6V1B1):c.*6C>A
|
rs45498896
|
0.01715
|
|
NM_001378454.1(ALMS1):c.671C>A (p.Pro224His)
|
rs11889925
|
0.01714
|
|
NM_002454.3(MTRR):c.1464A>G (p.Val488=)
|
rs35890938
|
0.01708
|
|
NM_002454.3(MTRR):c.1761T>C (p.Tyr587=)
|
rs6874544
|
0.01706
|
|
NM_001384474.1(LOXHD1):c.2370C>T (p.Asp790=)
|
rs34723936
|
0.01692
|
|
NM_001130987.2(DYSF):c.1785G>A (p.Ala595=)
|
rs35984374
|
0.01679
|
|
NM_001378454.1(ALMS1):c.2319G>A (p.Leu773=)
|
rs28730851
|
0.01669
|
|
NM_000271.5(NPC1):c.1503C>T (p.Asp501=)
|
rs116046557
|
0.01665
|
|
NM_000784.4(CYP27A1):c.888A>G (p.Gln296=)
|
rs61733619
|
0.01643
|
|
NM_001130987.2(DYSF):c.4848G>A (p.Glu1616=)
|
rs62145939
|
0.01642
|
|
NM_001378454.1(ALMS1):c.1871A>G (p.His624Arg)
|
rs41291187
|
0.01638
|
|
NM_015702.3(MMADHC):c.478+6T>G
|
rs13402787
|
0.01622
|
|
NM_000360.4(TH):c.1035G>T (p.Ala345=)
|
rs11826260
|
0.01611
|
|
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln)
|
rs45502896
|
0.01608
|
|
NM_022124.6(CDH23):c.4210-7C>T
|
rs79271090
|
0.01600
|
|
NM_000543.5(SMPD1):c.807C>T (p.Ala269=)
|
rs35933246
|
0.01598
|
|
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser)
|
rs11466023
|
0.01590
|
|
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_000543.5(SMPD1):c.559C>T (p.Pro187Ser)
|
rs74053349
|
0.01580
|
|
NM_000070.3(CAPN3):c.479C>G (p.Ala160Gly)
|
rs17592
|
0.01574
|
|
NM_005709.4(USH1C):c.1261G>A (p.Gly421Ser)
|
rs115931035
|
0.01559
|
|
NM_001384140.1(PCDH15):c.3795A>T (p.Glu1265Asp)
|
rs111033496
|
0.01533
|
|
NM_001378454.1(ALMS1):c.1144A>G (p.Thr382Ala)
|
rs28730849
|
0.01527
|
|
NM_000525.4(KCNJ11):c.801C>G (p.Leu267=)
|
rs5216
|
0.01521
|
|
NM_001384140.1(PCDH15):c.546A>G (p.Gly182=)
|
rs34164469
|
0.01517
|
|
NM_001017420.3(ESCO2):c.1522A>G (p.Ile508Val)
|
rs114956994
|
0.01512
|
|
NM_022124.6(CDH23):c.4341T>C (p.Asp1447=)
|
rs12218564
|
0.01509
|
|
NM_001384474.1(LOXHD1):c.1876G>T (p.Gly626Cys)
|
rs34589386
|
0.01503
|
|
NM_000271.5(NPC1):c.2514+6C>T
|
rs73392120
|
0.01501
|
|
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_024301.5(FKRP):c.192C>T (p.Pro64=)
|
rs111754012
|
0.01474
|
|
NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser)
|
rs17154353
|
0.01449
|
|
NM_022124.6(CDH23):c.3619G>A (p.Val1207Met)
|
rs111033488
|
0.01431
|
|
NM_022124.6(CDH23):c.204C>T (p.Gly68=)
|
rs116624130
|
0.01418
|
|
NM_000260.4(MYO7A):c.286-5C>T
|
rs111033471
|
0.01415
|
|
NM_022124.6(CDH23):c.173A>G (p.Gln58Arg)
|
rs61732490
|
0.01415
|
|
NM_031885.5(BBS2):c.1413A>C (p.Val471=)
|
rs35294865
|
0.01415
|
|
NM_014363.6(SACS):c.7149C>T (p.Arg2383=)
|
rs17078608
|
0.01409
|
|
NM_000543.5(SMPD1):c.1763C>T (p.Thr588Met)
|
rs35785620
|
0.01390
|
|
NM_000543.5(SMPD1):c.887G>A (p.Arg296Gln)
|
rs35824453
|
0.01388
|
|
NM_206933.4(USH2A):c.15091C>T (p.Arg5031Trp)
|
rs56038610
|
0.01377
|
|
NM_153676.4(USH1C):c.2184+21T>G
|
rs75810555
|
0.01371
|
|
NM_001384474.1(LOXHD1):c.3269G>A (p.Arg1090Gln)
|
rs118174674
|
0.01368
|
|
NM_153676.4(USH1C):c.388G>A (p.Val130Ile)
|
rs55843567
|
0.01363
|
|
NM_138694.4(PKHD1):c.11174+11A>G
|
rs115072237
|
0.01349
|
|
NM_000360.4(TH):c.645-74A>T
|
rs73403741
|
0.01330
|
|
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_001378454.1(ALMS1):c.1899A>G (p.Gln633=)
|
rs116033693
|
0.01292
|
|
NM_138694.4(PKHD1):c.8673C>G (p.Arg2891=)
|
rs116098879
|
0.01291
|
|
NM_000525.4(KCNJ11):c.1143G>A (p.Lys381=)
|
rs8175351
|
0.01289
|
|
NM_000287.4(PEX6):c.1028G>A (p.Arg343Gln)
|
rs111282915
|
0.01262
|
|
NM_138694.4(PKHD1):c.1234-5C>T
|
rs116124750
|
0.01262
|
|
NM_000260.4(MYO7A):c.6519C>T (p.Asn2173=)
|
rs111033230
|
0.01207
|
|
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_206933.4(USH2A):c.688G>A (p.Val230Met)
|
rs45500891
|
0.01191
|
|
NM_138694.4(PKHD1):c.10585G>C (p.Glu3529Gln)
|
rs145184792
|
0.01187
|
|
NM_022124.6(CDH23):c.1423G>A (p.Val475Met)
|
rs62622410
|
0.01173
|
|
NM_153717.3(EVC):c.1464+8A>G
|
rs116236414
|
0.01163
|
|
NM_138694.4(PKHD1):c.11878G>A (p.Val3960Ile)
|
rs34548196
|
0.01161
|
|
NM_153717.3(EVC):c.2373G>A (p.Gln791=)
|
rs73795089
|
0.01161
|
|
NM_153717.3(EVC):c.2363G>A (p.Arg788His)
|
rs73795088
|
0.01159
|
|
NM_000070.3(CAPN3):c.2433T>C (p.Val811=)
|
rs28364543
|
0.01154
|
|
NM_138694.4(PKHD1):c.8174-18T>A
|
rs111383080
|
0.01154
|
|
NM_000070.3(CAPN3):c.1116-5A>G
|
rs28364467
|
0.01144
|
|
NM_206933.4(USH2A):c.3945T>C (p.Asn1315=)
|
rs41303257
|
0.01136
|
|
NM_206933.4(USH2A):c.9213G>A (p.Ser3071=)
|
rs111033397
|
0.01111
|
|
NM_153676.4(USH1C):c.819+10G>C
|
rs41282936
|
0.01105
|
|
NM_138694.4(PKHD1):c.7298A>T (p.Asp2433Val)
|
rs76895755
|
0.01078
|
|
NM_001378454.1(ALMS1):c.6553C>T (p.Pro2185Ser)
|
rs77555300
|
0.01077
|
|
NM_000260.4(MYO7A):c.2754C>T (p.Ala918=)
|
rs78072361
|
0.01074
|
|
NM_001378454.1(ALMS1):c.5433G>C (p.Lys1811Asn)
|
rs78039319
|
0.01071
|
|
NM_138694.4(PKHD1):c.3876C>T (p.Thr1292=)
|
rs2499482
|
0.01071
|
|
NM_015702.3(MMADHC):c.412G>A (p.Glu138Lys)
|
rs61746421
|
0.01067
|
|
NM_015702.3(MMADHC):c.428G>T (p.Ser143Ile)
|
rs34886916
|
0.01066
|
|
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_138694.4(PKHD1):c.8606C>A (p.Thr2869Lys)
|
rs142522748
|
0.01047
|
|
NM_000360.4(TH):c.1200+9C>T
|
rs11564717
|
0.01045
|
|
NM_001130987.2(DYSF):c.4377G>A (p.Gln1459=)
|
rs76576806
|
0.01043
|
|
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met)
|
rs41281330
|
0.01037
|
|
NM_022124.6(CDH23):c.1515-25T>A
|
rs111309167
|
0.01028
|
|
NM_000070.3(CAPN3):c.551C>T (p.Thr184Met)
|
rs35889956
|
0.01026
|
|
NM_000243.3(MEFV):c.1772T>C (p.Ile591Thr)
|
rs11466045
|
0.01021
|
|
NM_001017420.3(ESCO2):c.510G>A (p.Val170=)
|
rs112031297
|
0.01021
|
|
NM_206933.4(USH2A):c.11928G>A (p.Thr3976=)
|
rs55961436
|
0.01005
|
|
NM_000441.2(SLC26A4):c.1002-9A>C
|
rs10234822
|
0.01002
|
|
NM_022124.6(CDH23):c.3574G>A (p.Val1192Ile)
|
rs80028391
|
0.00999
|
|
NM_014363.6(SACS):c.10305T>C (p.Ser3435=)
|
rs35670472
|
0.00986
|
|
NM_206933.4(USH2A):c.4440C>T (p.Ser1480=)
|
rs111632670
|
0.00984
|
|
NM_014363.6(SACS):c.12762C>T (p.Ser4254=)
|
rs11554397
|
0.00978
|
|
NM_153717.3(EVC):c.2872G>A (p.Asp958Asn)
|
rs35287723
|
0.00977
|
|
NM_000231.3(SGCG):c.435C>T (p.Asn145=)
|
rs35628352
|
0.00973
|
|
NM_201253.3(CRB1):c.2677-8C>T
|
rs73071678
|
0.00970
|
|
NM_153717.3(EVC):c.2505G>A (p.Ser835=)
|
rs115976359
|
0.00969
|
|
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_000057.4(BLM):c.419A>G (p.Glu140Gly)
|
rs35886055
|
0.00958
|
|
NM_002485.5(NBN):c.797C>T (p.Pro266Leu)
|
rs769420
|
0.00955
|
|
NM_022124.6(CDH23):c.1038G>A (p.Pro346=)
|
rs74608315
|
0.00950
|
|
NM_022124.6(CDH23):c.7630T>C (p.Leu2544=)
|
rs114819374
|
0.00947
|
|
NM_000019.4(ACAT1):c.978A>C (p.Pro326=)
|
rs73559264
|
0.00941
|
|
NM_138694.4(PKHD1):c.391-43T>A
|
rs116414807
|
0.00920
|
|
NM_138694.4(PKHD1):c.888A>T (p.Pro296=)
|
rs76012218
|
0.00916
|
|
NM_001378454.1(ALMS1):c.5463G>A (p.Pro1821=)
|
rs62151609
|
0.00915
|
|
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly)
|
rs143793528
|
0.00910
|
|
NM_000070.3(CAPN3):c.2332G>A (p.Asp778Asn)
|
rs115311625
|
0.00908
|
|
NM_024301.5(FKRP):c.249C>T (p.Ala83=)
|
rs149030303
|
0.00897
|
|
NM_138694.4(PKHD1):c.7733+43G>A
|
rs141811489
|
0.00897
|
|
NM_000070.3(CAPN3):c.73C>T (p.His25Tyr)
|
rs61735534
|
0.00885
|
|
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys)
|
rs41273726
|
0.00885
|
|
NM_001127671.2(LIFR):c.1937C>A (p.Thr646Asn)
|
rs79040751
|
0.00875
|
|
NM_000466.3(PEX1):c.812A>G (p.Asn271Ser)
|
rs138183109
|
0.00874
|
|
NM_001384140.1(PCDH15):c.1360G>A (p.Val454Ile)
|
rs61735473
|
0.00870
|
|
NM_000243.3(MEFV):c.2118G>A (p.Pro706=)
|
rs2234939
|
0.00864
|
|
NM_152618.3(BBS12):c.714T>G (p.Asn238Lys)
|
rs17006082
|
0.00860
|
|
NM_001127671.2(LIFR):c.1732G>A (p.Asp578Asn)
|
rs3729740
|
0.00852
|
|
NM_002617.4(PEX10):c.843G>A (p.Arg281=)
|
rs35082957
|
0.00846
|
|
NM_138694.4(PKHD1):c.1603-28T>C
|
rs73435705
|
0.00844
|
|
NM_001384140.1(PCDH15):c.475-3C>T
|
rs41304641
|
0.00837
|
|
NM_001134793.2(HYLS1):c.273G>T (p.Lys91Asn)
|
rs78786765
|
0.00834
|
|
NM_002485.5(NBN):c.2146A>G (p.Asn716Asp)
|
rs72563785
|
0.00830
|
|
NM_206933.4(USH2A):c.14333C>A (p.Ala4778Asp)
|
rs113447586
|
0.00830
|
|
NM_001378454.1(ALMS1):c.2661A>G (p.Val887=)
|
rs76266696
|
0.00818
|
|
NM_025114.4(CEP290):c.3465G>A (p.Leu1155=)
|
rs150138016
|
0.00815
|
|
NM_000057.4(BLM):c.2824-221G>A
|
rs28385073
|
0.00807
|
|
NM_006019.4(TCIRG1):c.1672G>C (p.Val558Leu)
|
rs35089741
|
0.00806
|
|
NM_014363.6(SACS):c.12649A>G (p.Asn4217Asp)
|
rs35799469
|
0.00804
|
|
NM_000466.3(PEX1):c.1521G>C (p.Trp507Cys)
|
rs112822975
|
0.00803
|
|
NM_000231.3(SGCG):c.*10G>A
|
rs139369964
|
0.00794
|
|
NM_000466.3(PEX1):c.2901G>A (p.Gln967=)
|
rs111704518
|
0.00792
|
|
NM_001130987.2(DYSF):c.4621C>T (p.Leu1541=)
|
rs7573406
|
0.00792
|
|
NM_153676.4(USH1C):c.2499C>T (p.Ile833=)
|
rs34581703
|
0.00789
|
|
NM_000277.3(PAH):c.1242C>T (p.Tyr414=)
|
rs1801152
|
0.00779
|
|
NM_001384474.1(LOXHD1):c.2027A>G (p.Asp676Gly)
|
rs16978578
|
0.00777
|
|
NM_001130987.2(DYSF):c.4430A>G (p.Asp1477Gly)
|
rs61738567
|
0.00775
|
|
NM_001122769.3(LCA5):c.586C>T (p.Leu196=)
|
rs114426854
|
0.00773
|
|
NM_138694.4(PKHD1):c.7921A>G (p.Thr2641Ala)
|
rs7766366
|
0.00773
|
|
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_002485.5(NBN):c.37+5G>A
|
rs116735828
|
0.00767
|
|
NM_001386140.1(MTTP):c.502G>A (p.Val168Ile)
|
rs61750974
|
0.00763
|
|
NM_006019.4(TCIRG1):c.2476G>A (p.Ala826Thr)
|
rs75596506
|
0.00755
|
|
NM_025216.3(WNT10A):c.493G>A (p.Gly165Arg)
|
rs77583146
|
0.00755
|
|
NM_001384474.1(LOXHD1):c.4526G>A (p.Gly1509Glu)
|
rs187587197
|
0.00751
|
|
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_001130987.2(DYSF):c.1380+6G>C
|
rs75796187
|
0.00745
|
|
NM_006432.5(NPC2):c.442-4A>C
|
rs114950106
|
0.00742
|
|
NM_000260.4(MYO7A):c.5215C>A (p.Arg1739=)
|
rs111033477
|
0.00740
|
|
NM_022124.6(CDH23):c.8907C>T (p.Arg2969=)
|
rs11000010
|
0.00740
|
|
NM_025114.4(CEP290):c.5199A>G (p.Gln1733=)
|
rs79644671
|
0.00740
|
|
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn)
|
rs142863601
|
0.00738
|
|
NM_000243.3(MEFV):c.1503C>T (p.Arg501=)
|
rs76464258
|
0.00733
|
|
NM_153717.3(EVC):c.1320T>A (p.Phe440Leu)
|
rs60582583
|
0.00733
|
|
NM_022124.6(CDH23):c.3364T>G (p.Leu1122Val)
|
rs77821631
|
0.00732
|
|
NM_000329.3(RPE65):c.399T>C (p.Leu133=)
|
rs59257923
|
0.00728
|
|
NM_138694.4(PKHD1):c.10515C>A (p.Ser3505Arg)
|
rs139014478
|
0.00721
|
|
NM_000070.3(CAPN3):c.319G>A (p.Glu107Lys)
|
rs1801505
|
0.00719
|
|
NM_001384474.1(LOXHD1):c.1028G>A (p.Arg343His)
|
rs183531840
|
0.00717
|
|
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_014363.6(SACS):c.4117G>C (p.Ala1373Pro)
|
rs61326562
|
0.00706
|
|
NM_014363.6(SACS):c.6069C>T (p.Asn2023=)
|
rs35369023
|
0.00706
|
|
NM_014363.6(SACS):c.5502G>C (p.Leu1834=)
|
rs34389000
|
0.00705
|
|
NM_025114.4(CEP290):c.1624-5T>C
|
rs142742071
|
0.00704
|
|
NM_001127671.2(LIFR):c.1899A>G (p.Ile633Met)
|
rs2303743
|
0.00702
|
|
NM_138694.4(PKHD1):c.8521A>G (p.Met2841Val)
|
rs113562492
|
0.00702
|
|
NM_002454.3(MTRR):c.1653G>A (p.Pro551=)
|
rs139206262
|
0.00700
|
|
NM_001384140.1(PCDH15):c.4024C>A (p.Gln1342Lys)
|
rs61731387
|
0.00699
|
|
NM_000070.3(CAPN3):c.939G>A (p.Pro313=)
|
rs78369269
|
0.00698
|
|
NM_022124.6(CDH23):c.3249G>A (p.Thr1083=)
|
rs79805606
|
0.00698
|
|
NM_206933.4(USH2A):c.10552G>A (p.Val3518Ile)
|
rs75397806
|
0.00696
|
|
NM_001378454.1(ALMS1):c.10628C>G (p.Thr3543Ser)
|
rs45501594
|
0.00688
|
|
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_000287.4(PEX6):c.1646C>T (p.Ala549Val)
|
rs115960224
|
0.00687
|
|
NM_000287.4(PEX6):c.2936C>T (p.Ala979Val)
|
rs115180949
|
0.00686
|
|
NM_002617.4(PEX10):c.685G>C (p.Val229Leu)
|
rs139345520
|
0.00686
|
|
NM_206933.4(USH2A):c.9723C>T (p.Tyr3241=)
|
rs6660707
|
0.00683
|
|
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg)
|
rs115045643
|
0.00681
|
|
NM_022124.6(CDH23):c.1096G>A (p.Ala366Thr)
|
rs143282422
|
0.00680
|
|
NM_000287.4(PEX6):c.210G>A (p.Gly70=)
|
rs398123304
|
0.00678
|
|
NM_022124.6(CDH23):c.7762G>C (p.Glu2588Gln)
|
rs41281338
|
0.00677
|
|
NM_153717.3(EVC):c.780G>A (p.Lys260=)
|
rs41269555
|
0.00676
|
|
NM_000784.4(CYP27A1):c.-6C>T
|
rs199891090
|
0.00673
|
|
NM_000441.2(SLC26A4):c.15C>A (p.Gly5=)
|
rs7811324
|
0.00669
|
|
NM_022124.6(CDH23):c.2337G>A (p.Lys779=)
|
rs111033461
|
0.00664
|
|
NM_001384474.1(LOXHD1):c.3999C>T (p.Cys1333=)
|
rs117297079
|
0.00657
|
|
NM_001384474.1(LOXHD1):c.274G>A (p.Val92Ile)
|
rs115275492
|
0.00656
|
|
NM_001384474.1(LOXHD1):c.4714C>A (p.Arg1572=)
|
rs75949023
|
0.00656
|
|
NM_002617.4(PEX10):c.318G>A (p.Leu106=)
|
rs146452560
|
0.00649
|
|
NM_001384474.1(LOXHD1):c.1431+10G>T
|
rs57330753
|
0.00648
|
|
NM_000260.4(MYO7A):c.2236G>A (p.Asp746Asn)
|
rs36090425
|
0.00646
|
|
NM_138694.4(PKHD1):c.6245C>T (p.Thr2082Ile)
|
rs147487242
|
0.00646
|
|
NM_206933.4(USH2A):c.848+5G>C
|
rs74329863
|
0.00641
|
|
NM_138694.4(PKHD1):c.4343A>G (p.Glu1448Gly)
|
rs116809571
|
0.00632
|
|
NM_033056.4(PCDH15):c.4850A>G (p.Asn1617Ser)
|
rs111033362
|
0.00631
|
|
NM_000543.5(SMPD1):c.1625G>A (p.Arg542Gln)
|
rs113467489
|
0.00629
|
|
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys)
|
rs1800100
|
0.00625
|
|
NM_000023.4(SGCA):c.*10C>G
|
rs60300808
|
0.00619
|
|
NM_000287.4(PEX6):c.2770G>T (p.Ala924Ser)
|
rs34551839
|
0.00619
|
|
NM_000243.3(MEFV):c.*9C>T
|
rs11466048
|
0.00618
|
|
NM_000260.4(MYO7A):c.4461C>T (p.Asn1487=)
|
rs56174006
|
0.00618
|
|
NM_024685.4(BBS10):c.1631A>G (p.Asn544Ser)
|
rs34737974
|
0.00618
|
|
NM_000260.4(MYO7A):c.3042G>T (p.Thr1014=)
|
rs111033507
|
0.00617
|
|
NM_022124.6(CDH23):c.6990G>T (p.Leu2330=)
|
rs111033495
|
0.00610
|
|
NM_206933.4(USH2A):c.9262G>A (p.Glu3088Lys)
|
rs56056328
|
0.00606
|
|
NM_001130987.2(DYSF):c.3337C>T (p.Arg1113Cys)
|
rs141536854
|
0.00601
|
|
NM_006019.4(TCIRG1):c.479G>A (p.Gly160Glu)
|
rs186758849
|
0.00601
|
|
NM_000070.3(CAPN3):c.984C>T (p.Cys328=)
|
rs28364441
|
0.00600
|
|
NM_001130987.2(DYSF):c.3341G>A (p.Arg1114His)
|
rs59915619
|
0.00594
|
|
NM_001130987.2(DYSF):c.2642A>C (p.Asp881Ala)
|
rs35884879
|
0.00589
|
|
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_000287.4(PEX6):c.813G>T (p.Ala271=)
|
rs35503676
|
0.00583
|
|
NM_000466.3(PEX1):c.3720C>T (p.His1240=)
|
rs34825053
|
0.00582
|
|
NM_001130987.2(DYSF):c.1216G>C (p.Val406Leu)
|
rs150724610
|
0.00580
|
|
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln)
|
rs61941020
|
0.00577
|
|
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr)
|
rs138036823
|
0.00577
|
|
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg)
|
rs34911792
|
0.00573
|
|
NM_138694.4(PKHD1):c.2279+13T>G
|
rs188914598
|
0.00572
|
|
NM_000543.5(SMPD1):c.1071C>T (p.Ala357=)
|
rs72896268
|
0.00571
|
|
NM_001384140.1(PCDH15):c.-5A>G
|
rs142016527
|
0.00570
|
|
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr)
|
rs111033282
|
0.00569
|
|
NM_001378454.1(ALMS1):c.10272G>C (p.Lys3424Asn)
|
rs34398445
|
0.00566
|
|
NM_022124.6(CDH23):c.2568C>G (p.Ile856Met)
|
rs188498736
|
0.00561
|
|
NM_153717.3(EVC):c.284A>G (p.Asp95Gly)
|
rs41269547
|
0.00561
|
|
NM_024685.4(BBS10):c.966T>C (p.Tyr322=)
|
rs139053702
|
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_014363.6(SACS):c.10896A>G (p.Ile3632Met)
|
rs35256065
|
0.00558
|
|
NM_033056.4(PCDH15):c.4884T>C (p.Thr1628=)
|
rs16937781
|
0.00558
|
|
NM_000023.4(SGCA):c.1120C>T (p.Arg374Cys)
|
rs35495899
|
0.00555
|
|
NM_002617.4(PEX10):c.332T>C (p.Leu111Pro)
|
rs35426403
|
0.00554
|
|
NM_138694.4(PKHD1):c.5725C>T (p.Arg1909Trp)
|
rs115338476
|
0.00551
|
|
NM_022124.6(CDH23):c.894G>A (p.Leu298=)
|
rs111033474
|
0.00549
|
|
NM_001384474.1(LOXHD1):c.5868C>T (p.His1956=)
|
rs114974101
|
0.00548
|
|
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser)
|
rs55638457
|
0.00545
|
|
NM_000057.4(BLM):c.2075-12G>T
|
rs28385027
|
0.00541
|
|
NM_022124.6(CDH23):c.8022G>A (p.Gln2674=)
|
rs201733315
|
0.00539
|
|
NM_014363.6(SACS):c.7384C>T (p.Pro2462Ser)
|
rs78239814
|
0.00525
|
|
NM_153676.4(USH1C):c.101A>G (p.His34Arg)
|
rs75157409
|
0.00524
|
|
NM_002617.4(PEX10):c.6C>G (p.Ala2=)
|
rs112471479
|
0.00523
|
|
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser)
|
rs147099630
|
0.00521
|
|
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala)
|
rs1800098
|
0.00519
|
|
NM_138694.4(PKHD1):c.9829+10T>G
|
rs143526199
|
0.00518
|
|
NM_022124.6(CDH23):c.3999G>A (p.Val1333=)
|
rs111033453
|
0.00516
|
|
NM_001378454.1(ALMS1):c.6752A>G (p.Asp2251Gly)
|
rs28730855
|
0.00515
|
|
NM_014363.6(SACS):c.1593C>T (p.Ile531=)
|
rs113756713
|
0.00513
|
|
NM_000260.4(MYO7A):c.4697C>T (p.Thr1566Met)
|
rs41298747
|
0.00512
|
|
NM_022124.6(CDH23):c.5297T>C (p.Phe1766Ser)
|
rs114745089
|
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_001384474.1(LOXHD1):c.1843C>A (p.Arg615=)
|
rs112463030
|
0.00507
|
|
NM_014363.6(SACS):c.6781C>A (p.Leu2261Ile)
|
rs146722795
|
0.00506
|
|
NM_000057.4(BLM):c.3960C>T (p.Pro1320=)
|
rs56009845
|
0.00502
|
|
NM_001127671.2(LIFR):c.2766T>C (p.Asp922=)
|
rs61027880
|
0.00501
|
|
NM_000543.5(SMPD1):c.813T>C (p.Pro271=)
|
rs61876771
|
0.00500
|
|
NM_002454.3(MTRR):c.288C>T (p.Leu96=)
|
rs35587995
|
0.00500
|
|
NM_004004.6(GJB2):c.341A>G (p.Glu114Gly)
|
rs2274083
|
0.00499
|
|
NM_000057.4(BLM):c.615G>A (p.Lys205=)
|
rs28903082
|
0.00496
|
|
NM_000277.3(PAH):c.820A>G (p.Lys274Glu)
|
rs142934616
|
0.00496
|
|
NM_000070.3(CAPN3):c.318C>T (p.Cys106=)
|
rs117609395
|
0.00495
|
|
NM_022124.6(CDH23):c.6687C>T (p.Asp2229=)
|
rs76463072
|
0.00494
|
|
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val)
|
rs121908954
|
0.00491
|
|
NM_022124.6(CDH23):c.6852G>C (p.Leu2284=)
|
rs56013867
|
0.00491
|
|
NM_022124.6(CDH23):c.5544C>T (p.Asp1848=)
|
rs142131750
|
0.00488
|
|
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr)
|
rs117852025
|
0.00488
|
|
NM_206933.4(USH2A):c.13440G>A (p.Arg4480=)
|
rs111033378
|
0.00488
|
|
NM_007259.5(VPS45):c.570C>T (p.Cys190=)
|
rs114087868
|
0.00487
|
|
NM_000287.4(PEX6):c.330C>G (p.Thr110=)
|
rs140486558
|
0.00486
|
|
NM_000243.3(MEFV):c.2163C>T (p.Phe721=)
|
rs11466047
|
0.00484
|
|
NM_138694.4(PKHD1):c.6777C>T (p.Phe2259=)
|
rs140065359
|
0.00482
|
|
NM_005709.4(USH1C):c.1243G>A (p.Ala415Thr)
|
rs116996553
|
0.00479
|
|
NM_206933.4(USH2A):c.5517G>A (p.Val1839=)
|
rs111033421
|
0.00479
|
|
NM_006019.4(TCIRG1):c.1515C>T (p.Thr505=)
|
rs34211419
|
0.00473
|
|
NM_024649.5(BBS1):c.1020C>G (p.Ser340=)
|
rs35209408
|
0.00470
|
|
NM_001378454.1(ALMS1):c.2764C>T (p.Leu922=)
|
rs143885319
|
0.00467
|
|
NM_001378454.1(ALMS1):c.8742A>G (p.Val2914=)
|
rs142611294
|
0.00466
|
|
NM_000271.5(NPC1):c.2073G>A (p.Pro691=)
|
rs113013085
|
0.00465
|
|
NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val)
|
rs11104729
|
0.00463
|
|
NM_000360.4(TH):c.16G>A (p.Ala6Thr)
|
rs74555599
|
0.00462
|
|
NM_000243.3(MEFV):c.1760-4G>A
|
rs79662406
|
0.00459
|
|
NM_138694.4(PKHD1):c.11738G>A (p.Arg3913His)
|
rs2661487
|
0.00453
|
|
NM_014363.6(SACS):c.12597A>G (p.Pro4199=)
|
rs112630127
|
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_001173990.3(TMEM216):c.35-17C>T
|
rs147953784
|
0.00450
|
|
NM_006019.4(TCIRG1):c.247A>G (p.Lys83Glu)
|
rs142855299
|
0.00448
|
|
NM_014363.6(SACS):c.11688G>A (p.Arg3896=)
|
rs116791509
|
0.00448
|
|
NM_014363.6(SACS):c.10821C>A (p.Ile3607=)
|
rs113595574
|
0.00447
|
|
NM_022124.6(CDH23):c.9758A>C (p.Asp3253Ala)
|
rs140463385
|
0.00447
|
|
NM_206933.4(USH2A):c.7160T>C (p.Met2387Thr)
|
rs115015305
|
0.00441
|
|
NM_152618.3(BBS12):c.355G>A (p.Gly119Ser)
|
rs77731085
|
0.00439
|
|
NM_000057.4(BLM):c.4076+4T>G
|
rs183176301
|
0.00436
|
|
NM_024301.5(FKRP):c.235G>A (p.Val79Met)
|
rs104894683
|
0.00435
|
|
NM_000057.4(BLM):c.410A>G (p.Lys137Arg)
|
rs28384988
|
0.00434
|
|
NM_001378454.1(ALMS1):c.6464A>G (p.Asp2155Gly)
|
rs58093963
|
0.00429
|
|
NM_001378454.1(ALMS1):c.7268A>G (p.Asn2423Ser)
|
rs75145370
|
0.00429
|
|
NM_001130987.2(DYSF):c.4027A>G (p.Ile1343Val)
|
rs145401010
|
0.00428
|
|
NM_206933.4(USH2A):c.2546G>A (p.Cys849Tyr)
|
rs111033481
|
0.00424
|
|
NM_001378454.1(ALMS1):c.11821G>A (p.Gly3941Ser)
|
rs61741524
|
0.00422
|
|
NM_206933.4(USH2A):c.9459C>T (p.Cys3153=)
|
rs73090721
|
0.00422
|
|
NM_000057.4(BLM):c.3128C>A (p.Ala1043Asp)
|
rs2229035
|
0.00421
|
|
NM_001017420.3(ESCO2):c.1735C>A (p.Pro579Thr)
|
rs115144373
|
0.00421
|
|
NM_001127671.2(LIFR):c.954C>T (p.Thr318=)
|
rs61748202
|
0.00421
|
|
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_206933.4(USH2A):c.6270A>G (p.Leu2090=)
|
rs56245532
|
0.00414
|
|
NM_001378454.1(ALMS1):c.4605A>G (p.Gln1535=)
|
rs144720929
|
0.00412
|
|
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu)
|
rs34997054
|
0.00411
|
|
NM_001384140.1(PCDH15):c.3502-8C>T
|
rs184144118
|
0.00411
|
|
NM_000260.4(MYO7A):c.5835C>T (p.Leu1945=)
|
rs111033476
|
0.00408
|
|
NM_206933.4(USH2A):c.12817T>C (p.Tyr4273His)
|
rs79654794
|
0.00408
|
|
NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr)
|
rs45503297
|
0.00407
|
|
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln)
|
rs188164241
|
0.00405
|
|
NM_001384474.1(LOXHD1):c.457C>T (p.Arg153Cys)
|
rs112618498
|
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_206933.4(USH2A):c.8458G>A (p.Val2820Ile)
|
rs59174500
|
0.00394
|
|
NM_206933.4(USH2A):c.8319C>T (p.Ser2773=)
|
rs56829872
|
0.00393
|
|
NM_000019.4(ACAT1):c.903G>A (p.Ala301=)
|
rs75811190
|
0.00390
|
|
NM_001386140.1(MTTP):c.2043G>A (p.Glu681=)
|
rs145444300
|
0.00389
|
|
NM_000260.4(MYO7A):c.5866G>A (p.Val1956Ile)
|
rs142293185
|
0.00386
|
|
NM_000057.4(BLM):c.1122T>C (p.His374=)
|
rs28385009
|
0.00382
|
|
NM_000057.4(BLM):c.1722A>G (p.Leu574=)
|
rs28385011
|
0.00379
|
|
NM_000057.4(BLM):c.3020-66T>C
|
rs28385101
|
0.00379
|
|
NM_022124.6(CDH23):c.9015G>A (p.Ala3005=)
|
rs376497158
|
0.00379
|
|
NM_022124.6(CDH23):c.9510+13C>T
|
rs183692794
|
0.00379
|
|
NM_206933.4(USH2A):c.15433G>A (p.Val5145Ile)
|
rs111033269
|
0.00379
|
|
NM_000441.2(SLC26A4):c.565G>T (p.Ala189Ser)
|
rs35045430
|
0.00378
|
|
NM_206933.4(USH2A):c.7130A>G (p.Asn2377Ser)
|
rs111033394
|
0.00378
|
|
NM_000492.4(CFTR):c.-812T>G
|
rs181008242
|
0.00375
|
|
NM_000543.5(SMPD1):c.901G>A (p.Val301Ile)
|
rs2723669
|
0.00374
|
|
NM_000543.5(SMPD1):c.99G>A (p.Met33Ile)
|
rs142178073
|
0.00371
|
|
NM_138694.4(PKHD1):c.5125C>T (p.Leu1709Phe)
|
rs45517932
|
0.00371
|
|
NM_000243.3(MEFV):c.42G>A (p.Glu14=)
|
rs113314808
|
0.00369
|
|
NM_022124.6(CDH23):c.6596T>A (p.Ile2199Asn)
|
rs111033494
|
0.00368
|
|
NM_001384474.1(LOXHD1):c.6034G>A (p.Glu2012Lys)
|
rs79045813
|
0.00367
|
|
NM_002454.3(MTRR):c.1819G>A (p.Val607Ile)
|
rs114259126
|
0.00366
|
|
NM_153676.4(USH1C):c.946G>C (p.Glu316Gln)
|
rs35336155
|
0.00366
|
|
NM_000070.3(CAPN3):c.1537-33G>A
|
rs143412460
|
0.00363
|
|
NM_000271.5(NPC1):c.3598A>G (p.Ser1200Gly)
|
rs35248744
|
0.00363
|
|
NM_001384474.1(LOXHD1):c.1945G>A (p.Asp649Asn)
|
rs141932807
|
0.00362
|
|
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_022124.6(CDH23):c.3074G>A (p.Gly1025Asp)
|
rs143179070
|
0.00358
|
|
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys)
|
rs41303287
|
0.00356
|
|
NM_004004.6(GJB2):c.-6T>A
|
rs148136545
|
0.00355
|
|
NM_000271.5(NPC1):c.2731G>A (p.Gly911Ser)
|
rs34302553
|
0.00354
|
|
NM_001384474.1(LOXHD1):c.1708G>A (p.Asp570Asn)
|
rs140437150
|
0.00354
|
|
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)
|
rs72474224
|
0.00354
|
|
NM_153717.3(EVC):c.1855G>A (p.Val619Ile)
|
rs111293777
|
0.00354
|
|
NM_206933.4(USH2A):c.14543G>A (p.Arg4848Gln)
|
rs77211159
|
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_002617.4(PEX10):c.621C>G (p.Pro207=)
|
rs140107510
|
0.00350
|
|
NM_000543.5(SMPD1):c.1561C>T (p.Leu521=)
|
rs147258619
|
0.00349
|
|
NM_001017420.3(ESCO2):c.820C>G (p.Leu274Val)
|
rs111667783
|
0.00348
|
|
NM_022124.6(CDH23):c.3845A>G (p.Asn1282Ser)
|
rs149073355
|
0.00347
|
|
NM_000057.4(BLM):c.893C>T (p.Thr298Met)
|
rs28384991
|
0.00346
|
|
NM_206933.4(USH2A):c.15076A>G (p.Lys5026Glu)
|
rs41308435
|
0.00346
|
|
NM_206933.4(USH2A):c.15562A>G (p.Ser5188Gly)
|
rs58257972
|
0.00343
|
|
NM_001130987.2(DYSF):c.1145C>T (p.Ala382Val)
|
rs115279465
|
0.00342
|
|
NM_000243.3(MEFV):c.1467G>A (p.Gln489=)
|
rs61732424
|
0.00341
|
|
NM_002454.3(MTRR):c.876C>T (p.Thr292=)
|
rs144724549
|
0.00341
|
|
NM_022124.6(CDH23):c.9903C>T (p.Pro3301=)
|
rs55717455
|
0.00341
|
|
NM_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly)
|
rs150925674
|
0.00340
|
|
NM_000243.3(MEFV):c.333G>A (p.Gly111=)
|
rs61732425
|
0.00339
|
|
NM_206933.4(USH2A):c.14315C>T (p.Ser4772Phe)
|
rs149222801
|
0.00339
|
|
NM_000260.4(MYO7A):c.1605C>T (p.Asn535=)
|
rs111033228
|
0.00336
|
|
NM_001130987.2(DYSF):c.2334C>T (p.Leu778=)
|
rs116204385
|
0.00336
|
|
NM_000492.4(CFTR):c.650A>G (p.Glu217Gly)
|
rs121909046
|
0.00335
|
|
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys)
|
rs111540787
|
0.00332
|
|
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser)
|
rs55680026
|
0.00329
|
|
NM_001039958.2(MESP2):c.717G>C (p.Gly239=)
|
rs181559095
|
0.00329
|
|
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=)
|
rs117370446
|
0.00329
|
|
NM_001130987.2(DYSF):c.2107C>G (p.Leu703Val)
|
rs74423119
|
0.00327
|
|
NM_206933.4(USH2A):c.4543A>G (p.Thr1515Ala)
|
rs141671082
|
0.00327
|
|
NM_014363.6(SACS):c.13717A>C (p.Asn4573His)
|
rs34382952
|
0.00326
|
|
NM_022124.6(CDH23):c.4875G>A (p.Val1625=)
|
rs149664909
|
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_001127671.2(LIFR):c.789A>G (p.Val263=)
|
rs141925289
|
0.00321
|
|
NM_000070.3(CAPN3):c.1746-20C>G
|
rs201892814
|
0.00320
|
|
NR_003051.4(RMRP):n.129G>C
|
rs74810894
|
0.00319
|
|
NM_001384474.1(LOXHD1):c.5802C>A (p.Asn1934Lys)
|
rs61733519
|
0.00316
|
|
NM_001384474.1(LOXHD1):c.6270G>A (p.Arg2090=)
|
rs367833904
|
0.00315
|
|
NM_138694.4(PKHD1):c.2715+7del
|
rs551015414
|
0.00313
|
|
NM_153717.3(EVC):c.1127C>T (p.Ala376Val)
|
rs142535134
|
0.00309
|
|
NM_000019.4(ACAT1):c.1068T>C (p.Phe356=)
|
rs139657823
|
0.00308
|
|
NM_001384474.1(LOXHD1):c.6741C>T (p.Ala2247=)
|
rs189873733
|
0.00308
|
|
NM_000243.3(MEFV):c.-15C>G
|
rs11466015
|
0.00306
|
|
NM_001127671.2(LIFR):c.2498-7G>A
|
rs113078097
|
0.00306
|
|
NM_025114.4(CEP290):c.6960+10G>A
|
rs75011402
|
0.00305
|
|
NM_000370.3(TTPA):c.664-4T>G
|
rs2045224
|
0.00304
|
|
NM_000057.4(BLM):c.2160C>T (p.Ile720=)
|
rs28385028
|
0.00303
|
|
NM_002454.3(MTRR):c.210C>G (p.Arg70=)
|
rs41282641
|
0.00303
|
|
NM_000271.5(NPC1):c.540C>T (p.Asp180=)
|
rs143656971
|
0.00300
|
|
NM_022124.6(CDH23):c.2878G>A (p.Glu960Lys)
|
rs111033458
|
0.00299
|
|
NM_001378454.1(ALMS1):c.9886A>G (p.Thr3296Ala)
|
rs58806616
|
0.00296
|
|
NM_000260.4(MYO7A):c.4698G>A (p.Thr1566=)
|
rs200207753
|
0.00295
|
|
NM_000492.4(CFTR):c.4242+13A>G
|
rs76179227
|
0.00295
|
|
NM_001384474.1(LOXHD1):c.1570C>T (p.Arg524Cys)
|
rs192376005
|
0.00295
|
|
NM_022124.6(CDH23):c.7722C>T (p.Tyr2574=)
|
rs111033483
|
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_206933.4(USH2A):c.14454G>A (p.Pro4818=)
|
rs137902779
|
0.00293
|
|
NM_000271.5(NPC1):c.3477+4A>G
|
rs114073738
|
0.00292
|
|
NM_014363.6(SACS):c.3129A>G (p.Ser1043=)
|
rs148878361
|
0.00292
|
|
NM_022124.6(CDH23):c.9501G>A (p.Thr3167=)
|
rs144906721
|
0.00292
|
|
NM_001386140.1(MTTP):c.1731C>T (p.Ala577=)
|
rs112506924
|
0.00290
|
|
NM_153676.4(USH1C):c.381G>T (p.Gly127=)
|
rs41282942
|
0.00290
|
|
NM_022124.6(CDH23):c.2970C>T (p.Asp990=)
|
rs56216952
|
0.00289
|
|
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile)
|
rs148932323
|
0.00287
|
|
NM_138694.4(PKHD1):c.4920A>G (p.Val1640=)
|
rs142465959
|
0.00286
|
|
NM_001378454.1(ALMS1):c.1267G>A (p.Val423Ile)
|
rs45630557
|
0.00285
|
|
NM_022124.6(CDH23):c.4045C>T (p.Arg1349Cys)
|
rs41281318
|
0.00285
|
|
NM_024649.5(BBS1):c.831-5C>T
|
rs56177555
|
0.00285
|
|
NM_000271.5(NPC1):c.1532C>T (p.Thr511Met)
|
rs13381670
|
0.00283
|
|
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_014363.6(SACS):c.9846A>G (p.Pro3282=)
|
rs61753111
|
0.00281
|
|
NM_022124.6(CDH23):c.9204G>A (p.Ala3068=)
|
rs192266658
|
0.00281
|
|
NM_000057.4(BLM):c.1928G>A (p.Arg643His)
|
rs12720097
|
0.00278
|
|
NM_001386140.1(MTTP):c.-6G>A
|
rs41275707
|
0.00276
|
|
NM_002485.5(NBN):c.1222A>G (p.Lys408Glu)
|
rs34120922
|
0.00276
|
|
NM_001692.4(ATP6V1B1):c.1394G>A (p.Arg465His)
|
rs142905621
|
0.00275
|
|
NM_006019.4(TCIRG1):c.1249G>A (p.Ala417Thr)
|
rs140963213
|
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_138694.4(PKHD1):c.6184C>T (p.Leu2062=)
|
rs116156469
|
0.00271
|
|
NM_138694.4(PKHD1):c.6211A>C (p.Asn2071His)
|
rs143832120
|
0.00271
|
|
NM_000466.3(PEX1):c.2271G>C (p.Leu757Phe)
|
rs142838522
|
0.00270
|
|
NM_000441.2(SLC26A4):c.2139T>G (p.Ile713Met)
|
rs143708308
|
0.00268
|
|
NM_001384140.1(PCDH15):c.1362C>T (p.Val454=)
|
rs61735479
|
0.00267
|
|
NM_024649.5(BBS1):c.24T>C (p.Asp8=)
|
rs55848325
|
0.00267
|
|
NM_201253.3(CRB1):c.1470C>T (p.Gly490=)
|
rs35193230
|
0.00265
|
|
NM_001017420.3(ESCO2):c.764T>C (p.Phe255Ser)
|
rs141631911
|
0.00262
|
|
NM_206933.4(USH2A):c.6236A>C (p.Lys2079Thr)
|
rs147039836
|
0.00260
|
|
NM_022124.6(CDH23):c.3293A>G (p.Asn1098Ser)
|
rs41281310
|
0.00258
|
|
NM_001130987.2(DYSF):c.5743G>A (p.Asp1915Asn)
|
rs115013641
|
0.00257
|
|
NM_138694.4(PKHD1):c.1950G>A (p.Arg650=)
|
rs143226202
|
0.00257
|
|
NM_201253.3(CRB1):c.600A>G (p.Thr200=)
|
rs77713666
|
0.00254
|
|
NM_015474.4(SAMHD1):c.77C>T (p.Pro26Leu)
|
rs147240777
|
0.00252
|
|
NM_001173990.3(TMEM216):c.211G>T (p.Val71Leu)
|
rs57932685
|
0.00251
|
|
NM_031885.5(BBS2):c.1422G>A (p.Ser474=)
|
rs117033008
|
0.00250
|
|
NM_000260.4(MYO7A):c.1554+8G>A
|
rs111033227
|
0.00249
|
|
NM_000243.3(MEFV):c.1587+18C>T
|
rs11466030
|
0.00248
|
|
NM_022124.6(CDH23):c.1307G>A (p.Ser436Asn)
|
rs111033369
|
0.00248
|
|
NM_004004.6(GJB2):c.457G>A (p.Val153Ile)
|
rs111033186
|
0.00247
|
|
NM_206933.4(USH2A):c.11191G>C (p.Glu3731Gln)
|
rs150264392
|
0.00246
|
|
NM_000057.4(BLM):c.3613G>A (p.Val1205Ile)
|
rs28385141
|
0.00245
|
|
NM_001378454.1(ALMS1):c.9822C>G (p.Thr3274=)
|
rs201446579
|
0.00245
|
|
NM_206933.4(USH2A):c.13404A>G (p.Arg4468=)
|
rs146994147
|
0.00245
|
|
NM_000543.5(SMPD1):c.441G>A (p.Val147=)
|
rs148944108
|
0.00241
|
|
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys)
|
rs182369459
|
0.00241
|
|
NM_000057.4(BLM):c.2075-14T>C
|
rs28385026
|
0.00240
|
|
NM_000260.4(MYO7A):c.4992C>T (p.Thr1664=)
|
rs181573957
|
0.00240
|
|
NM_001386140.1(MTTP):c.2673C>T (p.Ser891=)
|
rs115222767
|
0.00236
|
|
NM_014363.6(SACS):c.10611A>G (p.Ala3537=)
|
rs137856939
|
0.00236
|
|
NM_000441.2(SLC26A4):c.1545-5T>G
|
rs77944876
|
0.00234
|
|
NM_153676.4(USH1C):c.403G>A (p.Val135Ile)
|
rs145013633
|
0.00234
|
|
NM_206933.4(USH2A):c.4560C>T (p.Ile1520=)
|
rs148000219
|
0.00234
|
|
NM_000057.4(BLM):c.4077-10C>T
|
rs145310008
|
0.00233
|
|
NM_000329.3(RPE65):c.881A>C (p.Lys294Thr)
|
rs61752901
|
0.00232
|
|
NM_138694.4(PKHD1):c.2853C>T (p.Thr951=)
|
rs139815340
|
0.00230
|
|
NM_006118.4(HAX1):c.207A>T (p.Pro69=)
|
rs142150013
|
0.00228
|
|
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile)
|
rs61729954
|
0.00227
|
|
NM_022124.6(CDH23):c.4068C>G (p.Thr1356=)
|
rs143136329
|
0.00226
|
|
NM_000784.4(CYP27A1):c.243G>A (p.Leu81=)
|
rs75897848
|
0.00225
|
|
NM_001378454.1(ALMS1):c.1838G>A (p.Gly613Asp)
|
rs148040591
|
0.00225
|
|
NM_033056.4(PCDH15):c.5414C>T (p.Pro1805Leu)
|
rs114137983
|
0.00224
|
|
NM_000466.3(PEX1):c.934A>G (p.Ile312Val)
|
rs146312634
|
0.00223
|
|
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala)
|
rs147222255
|
0.00223
|
|
NM_033056.4(PCDH15):c.5286T>A (p.Pro1762=)
|
rs58461416
|
0.00220
|
|
NM_000019.4(ACAT1):c.60G>C (p.Arg20=)
|
rs77311724
|
0.00219
|
|
NM_000466.3(PEX1):c.330C>G (p.Pro110=)
|
rs71560821
|
0.00218
|
|
NM_001384474.1(LOXHD1):c.5689C>T (p.Leu1897=)
|
rs202043044
|
0.00218
|
|
NM_000243.3(MEFV):c.329T>C (p.Leu110Pro)
|
rs11466018
|
0.00217
|
|
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala)
|
rs144942544
|
0.00217
|
|
NM_000466.3(PEX1):c.2442C>T (p.Phe814=)
|
rs145430946
|
0.00216
|
|
NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp)
|
rs34596189
|
0.00216
|
|
NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=)
|
rs137932254
|
0.00215
|
|
NM_000057.4(BLM):c.254G>C (p.Arg85Thr)
|
rs141503266
|
0.00213
|
|
NM_000466.3(PEX1):c.473-3C>T
|
rs150576000
|
0.00213
|
|
NM_001384474.1(LOXHD1):c.4822G>A (p.Val1608Ile)
|
rs140042576
|
0.00212
|
|
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00212
|
|
NM_201253.3(CRB1):c.2306G>A (p.Arg769His)
|
rs62636287
|
0.00208
|
|
NM_002485.5(NBN):c.643C>T (p.Arg215Trp)
|
rs34767364
|
0.00206
|
|
NM_015474.4(SAMHD1):c.237T>C (p.Pro79=)
|
rs7271776
|
0.00206
|
|
NM_153717.3(EVC):c.939+9C>T
|
rs201282320
|
0.00205
|
|
NM_001378454.1(ALMS1):c.3311G>A (p.Gly1104Asp)
|
rs201074268
|
0.00204
|
|
NM_022124.6(CDH23):c.6705C>T (p.Ile2235=)
|
rs114827737
|
0.00203
|
|
NM_206933.4(USH2A):c.5932C>T (p.Pro1978Ser)
|
rs75698489
|
0.00203
|
|
NM_000243.3(MEFV):c.1173T>C (p.Asp391=)
|
rs146077729
|
0.00201
|
|
NM_153717.3(EVC):c.1826G>A (p.Arg609Gln)
|
rs41269557
|
0.00201
|
|
NM_206933.4(USH2A):c.879T>G (p.Leu293=)
|
rs3767698
|
0.00201
|
|
NM_002454.3(MTRR):c.857C>T (p.Thr286Met)
|
rs79430644
|
0.00198
|
|
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val)
|
rs36061856
|
0.00198
|
|
NM_138694.4(PKHD1):c.652G>A (p.Glu218Lys)
|
rs149522482
|
0.00198
|
|
NM_000260.4(MYO7A):c.3750+9G>A
|
rs111033252
|
0.00197
|
|
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr)
|
rs146451611
|
0.00197
|
|
NM_001378454.1(ALMS1):c.1453A>G (p.Ile485Val)
|
rs73945001
|
0.00195
|
|
NM_153717.3(EVC):c.8G>C (p.Arg3Pro)
|
rs756852655
|
0.00195
|
|
NM_024649.5(BBS1):c.1719A>G (p.Gln573=)
|
rs150553044
|
0.00194
|
|
NM_153717.3(EVC):c.550G>A (p.Asp184Asn)
|
rs41269549
|
0.00194
|
|
NM_153717.3(EVC):c.93C>G (p.Ala31=)
|
rs866226288
|
0.00194
|
|
NM_022124.6(CDH23):c.3801C>T (p.Thr1267=)
|
rs56107171
|
0.00193
|
|
NM_000543.5(SMPD1):c.1534G>A (p.Val512Met)
|
rs140806787
|
0.00192
|
|
NM_000318.3(PEX2):c.91C>G (p.Gln31Glu)
|
rs149287302
|
0.00190
|
|
NM_002454.3(MTRR):c.739C>T (p.Pro247Ser)
|
rs114053717
|
0.00190
|
|
NM_206933.4(USH2A):c.3621C>T (p.Ile1207=)
|
rs146462407
|
0.00190
|
|
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile)
|
rs41303255
|
0.00190
|
|
NM_000466.3(PEX1):c.3810T>A (p.Ser1270Arg)
|
rs139054881
|
0.00188
|
|
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_000525.4(KCNJ11):c.1095C>T (p.Arg365=)
|
rs143276279
|
0.00187
|
|
NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys)
|
rs139998038
|
0.00187
|
|
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His)
|
rs183655276
|
0.00187
|
|
NM_000466.3(PEX1):c.637C>T (p.Leu213Phe)
|
rs141798874
|
0.00185
|
|
NM_022124.6(CDH23):c.10026C>T (p.Asp3342=)
|
rs377118941
|
0.00185
|
|
NR_003051.3(RMRP):n.-3C>T
|
rs138660393
|
0.00185
|
|
NM_000441.2(SLC26A4):c.2326C>T (p.Arg776Cys)
|
rs111033255
|
0.00183
|
|
NM_006019.4(TCIRG1):c.1800C>T (p.Ala600=)
|
rs145144233
|
0.00182
|
|
NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly)
|
rs141093638
|
0.00181
|
|
NM_001384474.1(LOXHD1):c.1617G>A (p.Met539Ile)
|
rs143142227
|
0.00178
|
|
NM_138694.4(PKHD1):c.5100C>T (p.Thr1700=)
|
rs143717242
|
0.00178
|
|
NM_022124.6(CDH23):c.6713-8G>A
|
rs369946986
|
0.00176
|
|
NM_001384474.1(LOXHD1):c.3090G>A (p.Thr1030=)
|
rs113994614
|
0.00173
|
|
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser)
|
rs146077918
|
0.00172
|
|
NM_000370.3(TTPA):c.24C>G (p.Pro8=)
|
rs140010311
|
0.00172
|
|
NM_002617.4(PEX10):c.712G>C (p.Gly238Arg)
|
rs61736380
|
0.00172
|
|
NM_206933.4(USH2A):c.14753C>T (p.Thr4918Met)
|
rs56136489
|
0.00172
|
|
NM_153717.3(EVC):c.934G>A (p.Asp312Asn)
|
rs115275195
|
0.00171
|
|
NM_001386140.1(MTTP):c.419A>G (p.Asn140Ser)
|
rs61733140
|
0.00170
|
|
NM_014363.6(SACS):c.2988A>G (p.Leu996=)
|
rs111846884
|
0.00170
|
|
NM_022124.6(CDH23):c.5753G>A (p.Arg1918Gln)
|
rs115113440
|
0.00170
|
|
NM_153676.4(USH1C):c.674+4G>A
|
rs202095395
|
0.00170
|
|
NM_001130987.2(DYSF):c.3403-10G>A
|
rs116733194
|
0.00168
|
|
NM_001384474.1(LOXHD1):c.5313C>T (p.Gly1771=)
|
rs373924055
|
0.00168
|
|
NM_014363.6(SACS):c.10274A>G (p.Lys3425Arg)
|
rs147317123
|
0.00168
|
|
NM_033056.4(PCDH15):c.5565C>T (p.Ala1855=)
|
rs111033445
|
0.00168
|
|
NM_024685.4(BBS10):c.1669A>G (p.Ile557Val)
|
rs139719799
|
0.00167
|
|
NM_206933.4(USH2A):c.3648C>T (p.Tyr1216=)
|
rs147947402
|
0.00167
|
|
NM_000441.2(SLC26A4):c.1069G>A (p.Ala357Thr)
|
rs145467740
|
0.00166
|
|
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His)
|
rs45629132
|
0.00164
|
|
NM_000057.4(BLM):c.2268A>G (p.Lys756=)
|
rs146013879
|
0.00163
|
|
NM_153717.3(EVC):c.1500G>A (p.Met500Ile)
|
rs149898884
|
0.00163
|
|
NM_001039958.2(MESP2):c.908T>C (p.Leu303Pro)
|
rs185706635
|
0.00162
|
|
NM_006019.4(TCIRG1):c.90C>T (p.Gly30=)
|
rs141859450
|
0.00162
|
|
NM_001130987.2(DYSF):c.5503C>T (p.Arg1835Trp)
|
rs139879284
|
0.00161
|
|
NM_000370.3(TTPA):c.147C>T (p.Asp49=)
|
rs199805621
|
0.00160
|
|
NM_001384474.1(LOXHD1):c.5649G>A (p.Glu1883=)
|
rs180858375
|
0.00160
|
|
NM_024685.4(BBS10):c.1736A>G (p.Lys579Arg)
|
rs141521925
|
0.00159
|
|
NM_206933.4(USH2A):c.12557T>C (p.Ile4186Thr)
|
rs112120466
|
0.00159
|
|
NM_001130987.2(DYSF):c.1626C>T (p.Asn542=)
|
rs139495331
|
0.00158
|
|
NM_001378454.1(ALMS1):c.9914A>G (p.Asn3305Ser)
|
rs142022233
|
0.00158
|
|
NM_138694.4(PKHD1):c.7942G>A (p.Gly2648Ser)
|
rs139555370
|
0.00158
|
|
NM_206933.4(USH2A):c.13709G>A (p.Arg4570His)
|
rs730254
|
0.00158
|
|
NM_000466.3(PEX1):c.130-9T>C
|
rs377337949
|
0.00157
|
|
NR_003051.3(RMRP):n.71A>G
|
rs199476103
|
0.00156
|
|
NM_000466.3(PEX1):c.1011G>A (p.Lys337=)
|
rs142018583
|
0.00155
|
|
NM_001130987.2(DYSF):c.4756-3C>T
|
rs371227553
|
0.00153
|
|
NM_022124.6(CDH23):c.3010G>A (p.Val1004Met)
|
rs79705488
|
0.00151
|
|
NM_000057.4(BLM):c.-5+16G>C
|
rs547768822
|
0.00150
|
|
NM_000271.5(NPC1):c.3331C>T (p.Leu1111=)
|
rs151125564
|
0.00150
|
|
NM_000543.5(SMPD1):c.1589G>C (p.Gly530Ala)
|
rs35122256
|
0.00150
|
|
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu)
|
rs111033218
|
0.00150
|
|
NM_022124.6(CDH23):c.6329C>T (p.Ala2110Val)
|
rs111033492
|
0.00150
|
|
NM_024301.5(FKRP):c.1177G>A (p.Val393Ile)
|
rs140679502
|
0.00150
|
|
NM_153717.3(EVC):c.1333A>C (p.Lys445Gln)
|
rs116952023
|
0.00150
|
|
NM_001384140.1(PCDH15):c.3018G>T (p.Val1006=)
|
rs41307518
|
0.00149
|
|
NM_001384474.1(LOXHD1):c.5023C>T (p.Arg1675Cys)
|
rs201060702
|
0.00149
|
|
NM_014363.6(SACS):c.810T>G (p.Phe270Leu)
|
rs116907814
|
0.00149
|
|
NM_000492.4(CFTR):c.2820T>G (p.Thr940=)
|
rs60887846
|
0.00148
|
|
NM_001134793.2(HYLS1):c.468A>G (p.Leu156=)
|
rs138284572
|
0.00148
|
|
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)
|
rs28940579
|
0.00147
|
|
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys)
|
rs199573929
|
0.00146
|
|
NM_025114.4(CEP290):c.1298A>G (p.Asp433Gly)
|
rs200211587
|
0.00146
|
|
NM_138694.4(PKHD1):c.1342G>C (p.Gly448Arg)
|
rs149781976
|
0.00146
|
|
NM_206933.4(USH2A):c.486-15C>T
|
rs114194722
|
0.00146
|
|
NM_001692.4(ATP6V1B1):c.1320T>G (p.Ser440=)
|
rs147250093
|
0.00145
|
|
NM_002485.5(NBN):c.511A>G (p.Ile171Val)
|
rs61754966
|
0.00145
|
|
NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu)
|
rs142526715
|
0.00145
|
|
NM_138694.4(PKHD1):c.7307C>T (p.Thr2436Ile)
|
rs147851214
|
0.00145
|
|
NM_000543.5(SMPD1):c.1340+7C>T
|
rs116480929
|
0.00144
|
|
NM_006019.4(TCIRG1):c.482C>T (p.Pro161Leu)
|
rs34227834
|
0.00144
|
|
NM_024301.5(FKRP):c.567C>T (p.Pro189=)
|
rs201454433
|
0.00144
|
|
NM_001130987.2(DYSF):c.6180C>T (p.Pro2060=)
|
rs147263499
|
0.00143
|
|
NM_004004.6(GJB2):c.380G>A (p.Arg127His)
|
rs111033196
|
0.00143
|
|
NM_201253.3(CRB1):c.2307C>T (p.Arg769=)
|
rs151104285
|
0.00143
|
|
NM_001386140.1(MTTP):c.2433G>C (p.Leu811Phe)
|
rs144590904
|
0.00141
|
|
NM_206933.4(USH2A):c.10518G>A (p.Thr3506=)
|
rs114719960
|
0.00141
|
|
NM_000057.4(BLM):c.2263A>G (p.Lys755Glu)
|
rs142551229
|
0.00140
|
|
NM_000466.3(PEX1):c.1797A>G (p.Gly599=)
|
rs76986636
|
0.00140
|
|
NM_138694.4(PKHD1):c.11338C>T (p.Pro3780Ser)
|
rs41273722
|
0.00140
|
|
NM_000441.2(SLC26A4):c.964A>G (p.Asn322Asp)
|
rs143002265
|
0.00139
|
|
NM_000260.4(MYO7A):c.510G>A (p.Leu170=)
|
rs34477144
|
0.00138
|
|
NM_000492.4(CFTR):c.4243-5C>T
|
rs114402068
|
0.00138
|
|
NM_001384474.1(LOXHD1):c.2914G>A (p.Glu972Lys)
|
rs367630521
|
0.00138
|
|
NM_001384474.1(LOXHD1):c.3024C>T (p.Val1008=)
|
rs370616818
|
0.00138
|
|
NM_025114.4(CEP290):c.4102G>A (p.Asp1368Asn)
|
rs184143186
|
0.00138
|
|
NM_001384474.1(LOXHD1):c.5767C>G (p.Gln1923Glu)
|
rs377368588
|
0.00137
|
|
NM_000243.3(MEFV):c.1610+10G>T
|
rs11466033
|
0.00136
|
|
NM_022124.6(CDH23):c.2239C>T (p.Arg747Cys)
|
rs200649500
|
0.00136
|
|
NM_138694.4(PKHD1):c.3537T>C (p.Asn1179=)
|
rs141574387
|
0.00135
|
|
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys)
|
rs1800073
|
0.00134
|
|
NM_001122769.3(LCA5):c.2026G>T (p.Asp676Tyr)
|
rs143582502
|
0.00134
|
|
NM_014363.6(SACS):c.2983G>T (p.Val995Phe)
|
rs142967124
|
0.00134
|
|
NM_033056.4(PCDH15):c.5353T>C (p.Ser1785Pro)
|
rs144261647
|
0.00134
|
|
NM_000243.3(MEFV):c.986G>A (p.Arg329His)
|
rs104895112
|
0.00133
|
|
NM_001384474.1(LOXHD1):c.1961C>T (p.Pro654Leu)
|
rs369297699
|
0.00133
|
|
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=)
|
rs201838492
|
0.00133
|
|
NM_000525.4(KCNJ11):c.584G>A (p.Arg195His)
|
rs5217
|
0.00131
|
|
NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr)
|
rs111920492
|
0.00131
|
|
NM_001384474.1(LOXHD1):c.3426G>A (p.Val1142=)
|
rs200068167
|
0.00130
|
|
NM_004004.6(GJB2):c.608T>C (p.Ile203Thr)
|
rs76838169
|
0.00129
|
|
NM_000492.4(CFTR):c.4242+10T>C
|
rs138642693
|
0.00127
|
|
NM_153717.3(EVC):c.1040C>T (p.Thr347Met)
|
rs34947207
|
0.00127
|
|
NM_000287.4(PEX6):c.1480-5C>T
|
rs376473597
|
0.00126
|
|
NM_001134793.2(HYLS1):c.86A>C (p.His29Pro)
|
rs200146258
|
0.00126
|
|
NM_001384474.1(LOXHD1):c.1244T>G (p.Val415Gly)
|
rs529972175
|
0.00125
|
|
NM_138694.4(PKHD1):c.2348G>A (p.Arg783Gln)
|
rs185941281
|
0.00125
|
|
NM_000466.3(PEX1):c.3426C>T (p.Thr1142=)
|
rs143220470
|
0.00124
|
|
NM_001130987.2(DYSF):c.4937T>C (p.Ile1646Thr)
|
rs146384562
|
0.00124
|
|
NM_022124.6(CDH23):c.3361A>T (p.Ile1121Phe)
|
rs200542052
|
0.00124
|
|
NM_022124.6(CDH23):c.6648C>T (p.Ala2216=)
|
rs186394654
|
0.00124
|
|
NM_024301.5(FKRP):c.740C>A (p.Pro247Gln)
|
rs528000488
|
0.00124
|
|
NM_001386140.1(MTTP):c.2025C>T (p.Ile675=)
|
rs79023226
|
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_201253.3(CRB1):c.2977G>A (p.Glu993Lys)
|
rs151092557
|
0.00122
|
|
NM_206933.4(USH2A):c.14276G>A (p.Gly4759Glu)
|
rs112459877
|
0.00122
|
|
NM_000260.4(MYO7A):c.4805G>A (p.Arg1602Gln)
|
rs139889944
|
0.00121
|
|
NM_001378454.1(ALMS1):c.11745C>T (p.Ser3915=)
|
rs147831309
|
0.00121
|
|
NM_001384140.1(PCDH15):c.2563C>T (p.Arg855Trp)
|
rs138010738
|
0.00121
|
|
NM_153717.3(EVC):c.89C>T (p.Pro30Leu)
|
rs886044558
|
0.00121
|
|
NM_206933.4(USH2A):c.11467G>A (p.Val3823Ile)
|
rs142481947
|
0.00121
|
|
NM_000525.4(KCNJ11):c.1089A>G (p.Ser363=)
|
rs5214
|
0.00120
|
|
NM_002454.3(MTRR):c.144C>T (p.Thr48=)
|
rs138612190
|
0.00120
|
|
NM_153717.3(EVC):c.1464+5C>T
|
rs369734950
|
0.00120
|
|
NM_206933.4(USH2A):c.6364G>T (p.Ala2122Ser)
|
rs142786231
|
0.00120
|
|
NM_001378454.1(ALMS1):c.945T>C (p.Ser315=)
|
rs183390773
|
0.00119
|
|
NM_006019.4(TCIRG1):c.412C>T (p.Pro138Ser)
|
rs35354504
|
0.00118
|
|
NM_206933.4(USH2A):c.1179A>G (p.Gln393=)
|
rs148447919
|
0.00118
|
|
NM_206933.4(USH2A):c.4698G>A (p.Gln1566=)
|
rs143218330
|
0.00118
|
|
NM_015702.3(MMADHC):c.578T>C (p.Val193Ala)
|
rs147370143
|
0.00117
|
|
NM_000057.4(BLM):c.3849G>A (p.Gln1283=)
|
rs140524886
|
0.00115
|
|
NM_024649.5(BBS1):c.235G>A (p.Glu79Lys)
|
rs138744839
|
0.00115
|
|
NM_138694.4(PKHD1):c.11130C>T (p.Ile3710=)
|
rs146224907
|
0.00115
|
|
NM_001378454.1(ALMS1):c.10788G>C (p.Val3596=)
|
rs45445398
|
0.00114
|
|
NM_031885.5(BBS2):c.865A>G (p.Ile289Val)
|
rs150384293
|
0.00113
|
|
NM_138694.4(PKHD1):c.281+3A>G
|
rs79803080
|
0.00113
|
|
NM_138694.4(PKHD1):c.5358C>T (p.Ser1786=)
|
rs78543922
|
0.00113
|
|
NM_001130987.2(DYSF):c.2956A>T (p.Met986Leu)
|
rs144636654
|
0.00112
|
|
NM_001384474.1(LOXHD1):c.4217C>T (p.Ala1406Val)
|
rs146739496
|
0.00111
|
|
NM_001386140.1(MTTP):c.972G>A (p.Glu324=)
|
rs146953015
|
0.00111
|
|
NM_000525.4(KCNJ11):c.678C>T (p.Pro226=)
|
rs74162102
|
0.00109
|
|
NM_001122769.3(LCA5):c.902G>A (p.Arg301His)
|
rs139142572
|
0.00109
|
|
NM_001130987.2(DYSF):c.4629C>G (p.Val1543=)
|
rs142483266
|
0.00109
|
|
NM_014363.6(SACS):c.7527T>C (p.Tyr2509=)
|
rs140034972
|
0.00109
|
|
NM_024301.5(FKRP):c.520A>T (p.Ser174Cys)
|
rs200990647
|
0.00109
|
|
NM_000492.4(CFTR):c.2620-26A>G
|
rs201716473
|
0.00108
|
|
NM_001384474.1(LOXHD1):c.177G>A (p.Thr59=)
|
rs116413527
|
0.00108
|
|
NM_022124.6(CDH23):c.8256C>T (p.Gly2752=)
|
rs372846962
|
0.00108
|
|
NM_206933.4(USH2A):c.5612G>A (p.Gly1871Asp)
|
rs140895792
|
0.00108
|
|
NM_001127671.2(LIFR):c.2302A>G (p.Arg768Gly)
|
rs139848756
|
0.00107
|
|
NM_025114.4(CEP290):c.1716A>G (p.Leu572=)
|
rs372349042
|
0.00107
|
|
NM_206933.4(USH2A):c.5624A>G (p.Asn1875Ser)
|
rs141609561
|
0.00107
|
|
NM_001122769.3(LCA5):c.1579A>G (p.Ile527Val)
|
rs75319738
|
0.00106
|
|
NM_022124.6(CDH23):c.9670C>T (p.Arg3224Trp)
|
rs111033457
|
0.00106
|
|
NM_000271.5(NPC1):c.3217G>A (p.Gly1073Ser)
|
rs141440861
|
0.00105
|
|
NM_000784.4(CYP27A1):c.646+4C>T
|
rs191313794
|
0.00105
|
|
NM_138694.4(PKHD1):c.3783C>T (p.Gly1261=)
|
rs138388301
|
0.00105
|
|
NM_206933.4(USH2A):c.12505A>G (p.Thr4169Ala)
|
rs113107803
|
0.00105
|
|
NM_000543.5(SMPD1):c.762G>A (p.Leu254=)
|
rs143939609
|
0.00104
|
|
NM_201253.3(CRB1):c.2103C>G (p.Pro701=)
|
rs144436610
|
0.00104
|
|
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=)
|
rs145145840
|
0.00103
|
|
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr)
|
rs61752878
|
0.00103
|
|
NM_000543.5(SMPD1):c.1091+9C>T
|
rs143612450
|
0.00103
|
|
NM_002617.4(PEX10):c.601-27A>G
|
rs144264865
|
0.00103
|
|
NM_022124.6(CDH23):c.198G>A (p.Val66=)
|
rs111033288
|
0.00103
|
|
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)
|
rs28937900
|
0.00103
|
|
NM_031307.4(PUS3):c.-47+3170T>C
|
rs104894232
|
0.00103
|
|
NM_206933.4(USH2A):c.2256T>C (p.His752=)
|
rs111033281
|
0.00103
|
|
NM_000057.4(BLM):c.11T>C (p.Val4Ala)
|
rs144706057
|
0.00102
|
|
NM_138694.4(PKHD1):c.5478G>A (p.Ala1826=)
|
rs137925439
|
0.00102
|
|
NM_206933.4(USH2A):c.7060C>T (p.Arg2354Cys)
|
rs111033508
|
0.00102
|
|
NM_000019.4(ACAT1):c.480A>G (p.Pro160=)
|
rs141131039
|
0.00101
|
|
NM_000231.3(SGCG):c.539A>T (p.Glu180Val)
|
rs114160429
|
0.00101
|
|
NM_001039958.2(MESP2):c.67G>A (p.Gly23Ser)
|
rs548112443
|
0.00101
|
|
NM_001384474.1(LOXHD1):c.6099C>T (p.Asn2033=)
|
rs146200756
|
0.00101
|
|
NM_022124.6(CDH23):c.8167G>C (p.Val2723Leu)
|
rs142857685
|
0.00101
|
|
NM_138694.4(PKHD1):c.275G>A (p.Arg92Gln)
|
rs145886657
|
0.00101
|
|
NM_000382.3(ALDH3A2):c.119A>G (p.Asp40Gly)
|
rs147190807
|
0.00099
|
|
NM_006019.4(TCIRG1):c.813C>T (p.Leu271=)
|
rs377108710
|
0.00099
|
|
NM_206933.4(USH2A):c.4796G>A (p.Gly1599Asp)
|
rs148153079
|
0.00099
|
|
NM_000057.4(BLM):c.3879A>G (p.Glu1293=)
|
rs28377085
|
0.00098
|
|
NM_001130987.2(DYSF):c.2982C>T (p.Asn994=)
|
rs142404822
|
0.00098
|
|
NM_001384474.1(LOXHD1):c.4440G>A (p.Val1480=)
|
rs76946640
|
0.00098
|
|
NM_003384.3(VRK1):c.175T>G (p.Ser59Ala)
|
rs61736727
|
0.00098
|
|
NM_015702.3(MMADHC):c.707C>T (p.Pro236Leu)
|
rs143753228
|
0.00098
|
|
NM_014363.6(SACS):c.3074A>T (p.Asn1025Ile)
|
rs150981983
|
0.00097
|
|
NM_000466.3(PEX1):c.3371A>G (p.Asn1124Ser)
|
rs147870525
|
0.00096
|
|
NM_001130987.2(DYSF):c.1447A>G (p.Met483Val)
|
rs141818764
|
0.00096
|
|
NM_002454.3(MTRR):c.869T>C (p.Ile290Thr)
|
rs144899305
|
0.00096
|
|
NM_022124.6(CDH23):c.510C>T (p.Ser170=)
|
rs143341423
|
0.00096
|
|
NM_024649.5(BBS1):c.1181G>A (p.Gly394Asp)
|
rs141528309
|
0.00096
|
|
NM_000057.4(BLM):c.3359-13A>G
|
rs200250931
|
0.00093
|
|
NM_000287.4(PEX6):c.1677C>A (p.Asp559Glu)
|
rs61732159
|
0.00093
|
|
NM_006019.4(TCIRG1):c.1536C>T (p.Tyr512=)
|
rs138049763
|
0.00093
|
|
NM_006432.5(NPC2):c.363+7G>A
|
rs200463204
|
0.00093
|
|
NM_024685.4(BBS10):c.1545T>C (p.Asp515=)
|
rs77565309
|
0.00093
|
|
NM_138694.4(PKHD1):c.1307C>G (p.Thr436Ser)
|
rs146789444
|
0.00093
|
|
NM_153717.3(EVC):c.2707A>G (p.Ile903Val)
|
rs143678893
|
0.00093
|
|
NM_000057.4(BLM):c.1601A>G (p.Asn534Ser)
|
rs35224686
|
0.00092
|
|
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp)
|
rs5030858
|
0.00092
|
|
NM_000441.2(SLC26A4):c.2190G>T (p.Gln730His)
|
rs142723249
|
0.00092
|
|
NM_000277.3(PAH):c.158G>A (p.Arg53His)
|
rs118092776
|
0.00091
|
|
NM_001384474.1(LOXHD1):c.5546A>C (p.Asp1849Ala)
|
rs376636291
|
0.00091
|
|
NM_007259.5(VPS45):c.318C>T (p.Asp106=)
|
rs150076399
|
0.00091
|
|
NM_014363.6(SACS):c.1378C>T (p.Leu460Phe)
|
rs145213666
|
0.00091
|
|
NM_022124.6(CDH23):c.2830A>G (p.Ser944Gly)
|
rs188098974
|
0.00091
|
|
NM_025114.4(CEP290):c.4806G>A (p.Thr1602=)
|
rs201614215
|
0.00091
|
|
NM_000057.4(BLM):c.3592G>A (p.Val1198Met)
|
rs142928725
|
0.00090
|
|
NM_000260.4(MYO7A):c.1554+7C>T
|
rs150114658
|
0.00090
|
|
NM_022124.6(CDH23):c.387G>A (p.Ala129=)
|
rs201919232
|
0.00089
|
|
NM_025216.3(WNT10A):c.208C>T (p.Arg70Trp)
|
rs146460077
|
0.00089
|
|
NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter)
|
rs121908140
|
0.00089
|
|
NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys)
|
rs149553844
|
0.00089
|
|
NM_000260.4(MYO7A):c.39C>A (p.Asp13Glu)
|
rs199989979
|
0.00088
|
|
NM_006019.4(TCIRG1):c.197-5C>T
|
rs183885218
|
0.00088
|
|
NM_138694.4(PKHD1):c.3834C>T (p.Phe1278=)
|
rs145960781
|
0.00088
|
|
NM_001122769.3(LCA5):c.1843A>G (p.Ser615Gly)
|
rs143030450
|
0.00087
|
|
NM_001130987.2(DYSF):c.2147C>T (p.Ala716Val)
|
rs145007061
|
0.00087
|
|
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter)
|
rs121908119
|
0.00087
|
|
NM_000057.4(BLM):c.2362C>A (p.Leu788Ile)
|
rs149754073
|
0.00086
|
|
NM_015474.4(SAMHD1):c.275+8T>A
|
rs186225001
|
0.00086
|
|
NM_031885.5(BBS2):c.1380C>T (p.Phe460=)
|
rs141046144
|
0.00086
|
|
NM_206933.4(USH2A):c.6628C>G (p.Pro2210Ala)
|
rs192115090
|
0.00086
|
|
NM_000288.4(PEX7):c.615C>T (p.Asp205=)
|
rs147298444
|
0.00085
|
|
NM_206933.4(USH2A):c.8559-7G>A
|
rs199618999
|
0.00085
|
|
NM_138694.4(PKHD1):c.9492C>T (p.Ser3164=)
|
rs17752991
|
0.00084
|
|
NM_206933.4(USH2A):c.5048A>G (p.Asn1683Ser)
|
rs140080678
|
0.00084
|
|
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr)
|
rs35516286
|
0.00083
|
|
NM_000784.4(CYP27A1):c.703G>A (p.Glu235Lys)
|
rs149897566
|
0.00083
|
|
NM_001384474.1(LOXHD1):c.5399+6T>C
|
rs374607583
|
0.00083
|
|
NM_001127671.2(LIFR):c.2934G>A (p.Gln978=)
|
rs148354076
|
0.00082
|
|
NM_001130987.2(DYSF):c.2335G>A (p.Gly779Ser)
|
rs138654170
|
0.00082
|
|
NM_001130987.2(DYSF):c.4428C>T (p.Ile1476=)
|
rs145690047
|
0.00082
|
|
NM_007259.5(VPS45):c.290-10T>C
|
rs192850081
|
0.00081
|
|
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly)
|
rs41302239
|
0.00081
|
|
NM_000023.4(SGCA):c.843C>A (p.Ala281=)
|
rs149487996
|
0.00080
|
|
NM_001130987.2(DYSF):c.4694A>C (p.Lys1565Thr)
|
rs76086153
|
0.00080
|
|
NM_001692.4(ATP6V1B1):c.264G>A (p.Ala88=)
|
rs147576439
|
0.00080
|
|
NM_022124.6(CDH23):c.1301A>G (p.Asn434Ser)
|
rs139287714
|
0.00080
|
|
NM_138694.4(PKHD1):c.1877A>G (p.Lys626Arg)
|
rs117122807
|
0.00080
|
|
NM_153676.4(USH1C):c.2443C>T (p.Leu815=)
|
rs148477093
|
0.00080
|
|
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val)
|
rs35818432
|
0.00080
|
|
NM_001378454.1(ALMS1):c.11765A>G (p.Asn3922Ser)
|
rs199874928
|
0.00078
|
|
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr)
|
rs181255269
|
0.00078
|
|
NM_025216.3(WNT10A):c.591C>T (p.Ala197=)
|
rs367808568
|
0.00078
|
|
NM_201253.3(CRB1):c.3992G>A (p.Arg1331His)
|
rs62636285
|
0.00078
|
|
NM_001378454.1(ALMS1):c.2354A>G (p.Glu785Gly)
|
rs17848880
|
0.00077
|
|
NM_206933.4(USH2A):c.14664G>A (p.Thr4888=)
|
rs111033525
|
0.00077
|
|
NM_001130987.2(DYSF):c.2034G>A (p.Val678=)
|
rs138111360
|
0.00076
|
|
NM_001378454.1(ALMS1):c.8919G>A (p.Ala2973=)
|
rs116854981
|
0.00076
|
|
NM_014363.6(SACS):c.1374A>G (p.Thr458=)
|
rs149129638
|
0.00076
|
|
NM_138694.4(PKHD1):c.10926G>A (p.Met3642Ile)
|
rs78518523
|
0.00076
|
|
NM_000023.4(SGCA):c.366G>A (p.Leu122=)
|
rs147739328
|
0.00075
|
|
NM_000288.4(PEX7):c.339+10A>G
|
rs374668045
|
0.00075
|
|
NM_001130987.2(DYSF):c.6174-9C>T
|
rs201070766
|
0.00075
|
|
NM_138694.4(PKHD1):c.7912-5T>G
|
rs371510537
|
0.00075
|
|
NM_000329.3(RPE65):c.1244-5C>T
|
rs202185816
|
0.00074
|
|
NM_000441.2(SLC26A4):c.1616T>C (p.Ile539Thr)
|
rs146269871
|
0.00074
|
|
NM_000492.4(CFTR):c.4333G>A (p.Asp1445Asn)
|
rs148783445
|
0.00074
|
|
NM_001017420.3(ESCO2):c.1013+7A>G
|
rs149494070
|
0.00074
|
|
NM_001384474.1(LOXHD1):c.6599G>A (p.Arg2200Gln)
|
rs148468627
|
0.00074
|
|
NM_138694.4(PKHD1):c.5752-9G>A
|
rs184441390
|
0.00074
|
|
NM_000070.3(CAPN3):c.2257G>A (p.Asp753Asn)
|
rs146923842
|
0.00073
|
|
NM_001384140.1(PCDH15):c.243G>A (p.Val81=)
|
rs151119732
|
0.00073
|
|
NM_001384474.1(LOXHD1):c.4244G>A (p.Arg1415Gln)
|
rs374728484
|
0.00073
|
|
NM_001386140.1(MTTP):c.1985G>C (p.Ser662Thr)
|
rs10011440
|
0.00073
|
|
NM_025114.4(CEP290):c.341G>A (p.Arg114His)
|
rs150296134
|
0.00073
|
|
NM_138694.4(PKHD1):c.9215C>T (p.Ala3072Val)
|
rs139306706
|
0.00073
|
|
NM_206933.4(USH2A):c.2001C>T (p.His667=)
|
rs142870255
|
0.00073
|
|
NM_000260.4(MYO7A):c.5904C>T (p.His1968=)
|
rs41298753
|
0.00072
|
|
NM_024685.4(BBS10):c.765G>A (p.Met255Ile)
|
rs139658279
|
0.00072
|
|
NM_001130987.2(DYSF):c.5266C>T (p.Arg1756Trp)
|
rs148541407
|
0.00071
|
|
NM_001378454.1(ALMS1):c.4400G>T (p.Gly1467Val)
|
rs78102263
|
0.00071
|
|
NM_001384474.1(LOXHD1):c.1815C>T (p.Asp605=)
|
rs201388780
|
0.00071
|
|
NM_006019.4(TCIRG1):c.611C>T (p.Pro204Leu)
|
rs373711940
|
0.00071
|
|
NM_024301.5(FKRP):c.904G>A (p.Gly302Ser)
|
rs762283381
|
0.00071
|
|
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn)
|
rs146824138
|
0.00071
|
|
NM_014363.6(SACS):c.10668G>A (p.Leu3556=)
|
rs139517699
|
0.00070
|
|
NM_138694.4(PKHD1):c.1925C>T (p.Thr642Ile)
|
rs138968608
|
0.00070
|
|
NM_138694.4(PKHD1):c.7675G>C (p.Val2559Leu)
|
rs150046042
|
0.00070
|
|
NM_206933.4(USH2A):c.5409C>G (p.Val1803=)
|
rs140326085
|
0.00070
|
|
NM_000277.3(PAH):c.30C>G (p.Gly10=)
|
rs1801145
|
0.00069
|
|
NM_000329.3(RPE65):c.496-4G>A
|
rs138146176
|
0.00069
|
|
NM_000441.2(SLC26A4):c.1614C>T (p.Asn538=)
|
rs111033193
|
0.00069
|
|
NM_000466.3(PEX1):c.3216T>C (p.Ser1072=)
|
rs140963147
|
0.00069
|
|
NM_001039958.2(MESP2):c.859C>T (p.Pro287Ser)
|
rs201904631
|
0.00069
|
|
NM_001384474.1(LOXHD1):c.2998C>T (p.Arg1000Trp)
|
rs199847981
|
0.00069
|
|
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter)
|
rs201587138
|
0.00069
|
|
NM_001384474.1(LOXHD1):c.5853G>A (p.Lys1951=)
|
rs201366522
|
0.00069
|
|
NM_006019.4(TCIRG1):c.1887+131G>A
|
rs78820476
|
0.00069
|
|
NM_022124.6(CDH23):c.5541C>T (p.Asn1847=)
|
rs148632119
|
0.00069
|
|
NM_022124.6(CDH23):c.6429G>A (p.Thr2143=)
|
rs142788731
|
0.00069
|
|
NM_152618.3(BBS12):c.1207G>A (p.Val403Met)
|
rs78000298
|
0.00069
|
|
NM_206933.4(USH2A):c.5265C>T (p.Phe1755=)
|
rs147371835
|
0.00069
|
|
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu)
|
rs121909034
|
0.00068
|
|
NM_001127671.2(LIFR):c.3039G>C (p.Val1013=)
|
rs754819659
|
0.00068
|
|
NM_001378454.1(ALMS1):c.3290A>G (p.Tyr1097Cys)
|
rs201816596
|
0.00068
|
|
NM_022124.6(CDH23):c.5410C>T (p.Arg1804Trp)
|
rs376271562
|
0.00068
|
|
NM_031885.5(BBS2):c.1523A>C (p.Gln508Pro)
|
rs115328064
|
0.00068
|
|
NM_206933.4(USH2A):c.5802G>A (p.Ser1934=)
|
rs149776188
|
0.00068
|
|
NM_000287.4(PEX6):c.853C>G (p.Pro285Ala)
|
rs61753220
|
0.00067
|
|
NM_014363.6(SACS):c.2234G>A (p.Arg745His)
|
rs143677534
|
0.00067
|
|
NM_015702.3(MMADHC):c.455C>G (p.Thr152Arg)
|
rs146795035
|
0.00067
|
|
NM_025114.4(CEP290):c.4031T>C (p.Val1344Ala)
|
rs369227219
|
0.00067
|
|
NM_153717.3(EVC):c.2322G>C (p.Ala774=)
|
rs150373930
|
0.00067
|
|
NM_000057.4(BLM):c.2919C>T (p.Tyr973=)
|
rs181161119
|
0.00066
|
|
NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu)
|
rs150334966
|
0.00066
|
|
NM_000466.3(PEX1):c.645C>G (p.Thr215=)
|
rs151041559
|
0.00066
|
|
NM_001378454.1(ALMS1):c.10892G>A (p.Arg3631His)
|
rs142558799
|
0.00066
|
|
NM_001378454.1(ALMS1):c.3305A>C (p.Lys1102Thr)
|
rs185586839
|
0.00066
|
|
NM_001378454.1(ALMS1):c.4134T>C (p.Ser1378=)
|
rs200491758
|
0.00066
|
|
NM_003384.3(VRK1):c.1020C>T (p.Asp340=)
|
rs147853760
|
0.00066
|
|
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)
|
rs80338945
|
0.00066
|
|
NM_024301.5(FKRP):c.606G>A (p.Leu202=)
|
rs140084192
|
0.00066
|
|
NM_033056.4(PCDH15):c.4812G>T (p.Arg1604Ser)
|
rs148718874
|
0.00066
|
|
NM_138694.4(PKHD1):c.1486C>T (p.Arg496Ter)
|
rs137852949
|
0.00066
|
|
NM_138694.4(PKHD1):c.9553G>A (p.Val3185Ile)
|
rs145651593
|
0.00066
|
|
NM_000466.3(PEX1):c.3373A>T (p.Met1125Leu)
|
rs142994610
|
0.00065
|
|
NM_001130987.2(DYSF):c.990C>T (p.Leu330=)
|
rs140809078
|
0.00065
|
|
NM_206933.4(USH2A):c.12598T>G (p.Trp4200Gly)
|
rs114116572
|
0.00065
|
|
NM_206933.4(USH2A):c.4578G>T (p.Gly1526=)
|
rs147560504
|
0.00065
|
|
NM_000070.3(CAPN3):c.525C>T (p.Asp175=)
|
rs144383442
|
0.00064
|
|
NM_001127671.2(LIFR):c.1915A>T (p.Met639Leu)
|
rs143808825
|
0.00064
|
|
NM_025114.4(CEP290):c.1670G>A (p.Arg557His)
|
rs184018899
|
0.00064
|
|
NM_153676.4(USH1C):c.669C>A (p.Gly223=)
|
rs144761543
|
0.00064
|
|
NM_206933.4(USH2A):c.5142T>C (p.Asn1714=)
|
rs143546878
|
0.00064
|
|
NM_000243.3(MEFV):c.932C>T (p.Ala311Val)
|
rs74346519
|
0.00063
|
|
NM_000260.4(MYO7A):c.2882G>A (p.Gly961Asp)
|
rs199575418
|
0.00063
|
|
NM_000260.4(MYO7A):c.3750+5G>A
|
rs111033391
|
0.00063
|
|
NM_022124.6(CDH23):c.6918G>A (p.Leu2306=)
|
rs146819206
|
0.00063
|
|
NM_000271.5(NPC1):c.1561G>T (p.Ala521Ser)
|
rs138184115
|
0.00062
|
|
NM_001130987.2(DYSF):c.559G>A (p.Gly187Arg)
|
rs200970855
|
0.00062
|
|
NM_001384474.1(LOXHD1):c.4130G>A (p.Arg1377Gln)
|
rs150095081
|
0.00062
|
|
NM_002454.3(MTRR):c.54C>T (p.Ile18=)
|
rs6413426
|
0.00062
|
|
NM_002485.5(NBN):c.441C>T (p.Cys147=)
|
rs137857529
|
0.00062
|
|
NM_001039958.2(MESP2):c.793A>G (p.Thr265Ala)
|
rs201002566
|
0.00061
|
|
NM_001384140.1(PCDH15):c.4334C>G (p.Ala1445Gly)
|
rs146745502
|
0.00061
|
|
NM_007259.5(VPS45):c.566A>G (p.Glu189Gly)
|
rs144659538
|
0.00061
|
|
NM_031885.5(BBS2):c.126T>G (p.Ile42Met)
|
rs139945733
|
0.00061
|
|
NM_138694.4(PKHD1):c.1676G>A (p.Arg559Gln)
|
rs142896856
|
0.00061
|
|
NM_138694.4(PKHD1):c.2243C>T (p.Ala748Val)
|
rs141622697
|
0.00061
|
|
NM_138694.4(PKHD1):c.7744C>T (p.Pro2582Ser)
|
rs200204857
|
0.00061
|
|
NM_206933.4(USH2A):c.12823T>A (p.Ser4275Thr)
|
rs138607917
|
0.00061
|
|
NM_014363.6(SACS):c.12148T>C (p.Phe4050Leu)
|
rs147013767
|
0.00060
|
|
NM_153676.4(USH1C):c.360C>T (p.Gly120=)
|
rs140869579
|
0.00060
|
|
NM_000329.3(RPE65):c.48T>C (p.Phe16=)
|
rs62642581
|
0.00059
|
|
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln)
|
rs143486492
|
0.00059
|
|
NM_002454.3(MTRR):c.1021G>A (p.Val341Ile)
|
rs74790259
|
0.00059
|
|
NM_003384.3(VRK1):c.1021C>T (p.Leu341Phe)
|
rs139734064
|
0.00059
|
|
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp)
|
rs111033222
|
0.00059
|
|
NM_000231.3(SGCG):c.58A>G (p.Asn20Asp)
|
rs763248287
|
0.00058
|
|
NM_000260.4(MYO7A):c.4668G>A (p.Pro1556=)
|
rs376892582
|
0.00058
|
|
NM_000382.3(ALDH3A2):c.1398C>T (p.Leu466=)
|
rs150927045
|
0.00058
|
|
NM_001378454.1(ALMS1):c.11584T>C (p.Ser3862Pro)
|
rs202227966
|
0.00058
|
|
NM_001692.4(ATP6V1B1):c.1023C>T (p.Ser341=)
|
rs117826071
|
0.00058
|
|
NM_002454.3(MTRR):c.879T>C (p.Thr293=)
|
rs773629167
|
0.00058
|
|
NM_002617.4(PEX10):c.896C>T (p.Ala299Val)
|
rs78620392
|
0.00058
|
|
NM_004004.6(GJB2):c.167del (p.Leu56fs)
|
rs80338942
|
0.00058
|
|
NM_006019.4(TCIRG1):c.1487C>T (p.Thr496Met)
|
rs141474168
|
0.00058
|
|
NM_024685.4(BBS10):c.1436C>A (p.Ala479Glu)
|
rs138434761
|
0.00058
|
|
NM_025114.4(CEP290):c.7186G>T (p.Asp2396Tyr)
|
rs189556433
|
0.00058
|
|
NM_138694.4(PKHD1):c.2194G>T (p.Val732Phe)
|
rs201432731
|
0.00058
|
|
NM_206933.4(USH2A):c.10769C>T (p.Pro3590Leu)
|
rs115403785
|
0.00058
|
|
NM_000277.3(PAH):c.1208C>T (p.Ala403Val)
|
rs5030857
|
0.00057
|
|
NM_000277.3(PAH):c.289A>C (p.Ile97Leu)
|
rs142516271
|
0.00057
|
|
NM_000466.3(PEX1):c.1085C>T (p.Ser362Leu)
|
rs138758170
|
0.00057
|
|
NM_001130987.2(DYSF):c.4993G>A (p.Val1665Ile)
|
rs147056383
|
0.00057
|
|
NM_001378454.1(ALMS1):c.8411G>A (p.Arg2804His)
|
rs201252809
|
0.00057
|
|
NM_001378454.1(ALMS1):c.8942A>G (p.Asn2981Ser)
|
rs200390821
|
0.00057
|
|
NM_022124.6(CDH23):c.3927G>A (p.Glu1309=)
|
rs115398922
|
0.00057
|
|
NM_024301.5(FKRP):c.531G>A (p.Glu177=)
|
rs768007208
|
0.00057
|
|
NM_138694.4(PKHD1):c.11800G>A (p.Val3934Ile)
|
rs149111536
|
0.00057
|
|
NM_138694.4(PKHD1):c.5768A>T (p.Gln1923Leu)
|
rs150838488
|
0.00057
|
|
NR_003051.3(RMRP):n.-7A>G
|
rs111909453
|
0.00057
|
|
NM_000023.4(SGCA):c.421C>A (p.Arg141Ser)
|
rs35130237
|
0.00056
|
|
NM_000057.4(BLM):c.968A>G (p.Lys323Arg)
|
rs146504061
|
0.00056
|
|
NM_000360.4(TH):c.1398C>T (p.Ile466=)
|
rs118175546
|
0.00056
|
|
NM_000492.4(CFTR):c.2245C>T (p.Leu749=)
|
rs151235408
|
0.00056
|
|
NM_001384474.1(LOXHD1):c.5410G>A (p.Glu1804Lys)
|
rs200242497
|
0.00056
|
|
NM_001384474.1(LOXHD1):c.889A>C (p.Thr297Pro)
|
rs117747744
|
0.00056
|
|
NM_014363.6(SACS):c.7165G>A (p.Val2389Met)
|
rs142869943
|
0.00056
|
|
NM_033056.4(PCDH15):c.5398G>A (p.Val1800Ile)
|
rs111033463
|
0.00056
|
|
NM_138694.4(PKHD1):c.10210A>G (p.Ile3404Val)
|
rs147612089
|
0.00056
|
|
NM_206933.4(USH2A):c.1961T>C (p.Leu654Pro)
|
rs1321779316
|
0.00056
|
|
NM_206933.4(USH2A):c.4758+3A>G
|
rs117798425
|
0.00056
|
|
NM_000466.3(PEX1):c.2792C>A (p.Ala931Asp)
|
rs144825021
|
0.00055
|
|
NM_001130987.2(DYSF):c.3111C>T (p.Pro1037=)
|
rs143475751
|
0.00055
|
|
NM_001130987.2(DYSF):c.4627G>A (p.Val1543Ile)
|
rs143895253
|
0.00055
|
|
NM_015702.3(MMADHC):c.414A>C (p.Glu138Asp)
|
rs113390214
|
0.00055
|
|
NM_025114.4(CEP290):c.2306T>C (p.Ile769Thr)
|
rs199583200
|
0.00055
|
|
NM_138694.4(PKHD1):c.1675C>T (p.Arg559Trp)
|
rs141384205
|
0.00055
|
|
NM_206933.4(USH2A):c.2299del (p.Glu767fs)
|
rs80338903
|
0.00055
|
|
NM_000288.4(PEX7):c.418-4G>T
|
rs199552223
|
0.00054
|
|
NM_000329.3(RPE65):c.963T>G (p.Asn321Lys)
|
rs149916178
|
0.00054
|
|
NM_000360.4(TH):c.897C>T (p.Phe299=)
|
rs76719766
|
0.00054
|
|
NM_002485.5(NBN):c.896+4T>C
|
rs190843577
|
0.00054
|
|
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met)
|
rs201988582
|
0.00054
|
|
NM_138694.4(PKHD1):c.10859G>A (p.Arg3620His)
|
rs149163661
|
0.00054
|
|
NM_152443.3(RDH12):c.85G>A (p.Gly29Arg)
|
rs115455005
|
0.00054
|
|
NM_206933.4(USH2A):c.13343A>G (p.Asp4448Gly)
|
rs150532013
|
0.00054
|
|
NM_206933.4(USH2A):c.7301-6C>T
|
rs375499259
|
0.00054
|
|
NM_206933.4(USH2A):c.8320G>A (p.Ala2774Thr)
|
rs111033533
|
0.00054
|
|
NM_000070.3(CAPN3):c.2380+19C>T
|
rs141234995
|
0.00053
|
|
NM_000784.4(CYP27A1):c.276C>T (p.Tyr92=)
|
rs141519183
|
0.00053
|
|
NM_001130987.2(DYSF):c.1498C>T (p.Arg500Cys)
|
rs185119682
|
0.00053
|
|
NM_001378454.1(ALMS1):c.9712C>T (p.Arg3238Cys)
|
rs201252375
|
0.00053
|
|
NM_001384474.1(LOXHD1):c.5693-8C>A
|
rs544020946
|
0.00053
|
|
NM_006019.4(TCIRG1):c.2397C>T (p.His799=)
|
rs141356870
|
0.00053
|
|
NM_022124.6(CDH23):c.1446C>A (p.Val482=)
|
rs200324241
|
0.00053
|
|
NM_022124.6(CDH23):c.9942G>A (p.Thr3314=)
|
rs376804660
|
0.00053
|
|
NM_000288.4(PEX7):c.128C>T (p.Ala43Val)
|
rs780369944
|
0.00052
|
|
NM_001173990.3(TMEM216):c.140T>C (p.Val47Ala)
|
rs762918371
|
0.00052
|
|
NM_138694.4(PKHD1):c.3303A>G (p.Thr1101=)
|
rs148335285
|
0.00052
|
|
NM_000057.4(BLM):c.465T>C (p.Asp155=)
|
rs185349681
|
0.00051
|
|
NM_000070.3(CAPN3):c.1746-7C>G
|
rs199978708
|
0.00051
|
|
NM_000441.1(SLC26A4):c.28C>A (p.Pro10Thr)
|
rs200102493
|
0.00051
|
|
NM_000543.5(SMPD1):c.1675G>A (p.Val559Ile)
|
rs149939736
|
0.00051
|
|
NM_001378454.1(ALMS1):c.10774A>G (p.Thr3592Ala)
|
rs200467041
|
0.00051
|
|
NM_001384140.1(PCDH15):c.2581G>A (p.Val861Met)
|
rs142512524
|
0.00051
|
|
NM_001384474.1(LOXHD1):c.1716C>T (p.Asn572=)
|
rs147582935
|
0.00051
|
|
NM_003384.3(VRK1):c.375-8G>C
|
rs191021502
|
0.00051
|
|
NM_003384.3(VRK1):c.858G>T (p.Met286Ile)
|
rs139476915
|
0.00051
|
|
NM_015702.3(MMADHC):c.617A>G (p.Asn206Ser)
|
rs138607412
|
0.00051
|
|
NM_022124.6(CDH23):c.67+8C>T
|
rs186548927
|
0.00051
|
|
NM_201253.3(CRB1):c.1533C>T (p.Ala511=)
|
rs142224492
|
0.00051
|
|
NM_206933.4(USH2A):c.10741-8G>A
|
rs369968349
|
0.00051
|
|
NM_206933.4(USH2A):c.7068T>G (p.Asn2356Lys)
|
rs200038092
|
0.00051
|
|
NM_000329.3(RPE65):c.117C>T (p.Thr39=)
|
rs143929144
|
0.00050
|
|
NM_000382.3(ALDH3A2):c.564G>A (p.Ala188=)
|
rs61757681
|
0.00050
|
|
NM_001122769.3(LCA5):c.1215T>G (p.Val405=)
|
rs41270545
|
0.00050
|
|
NM_007259.5(VPS45):c.487A>G (p.Thr163Ala)
|
rs146014368
|
0.00050
|
|
NM_022124.6(CDH23):c.9335T>C (p.Ile3112Thr)
|
rs201359237
|
0.00050
|
|
NM_206933.4(USH2A):c.15427C>T (p.Arg5143Cys)
|
rs145771342
|
0.00050
|
|
NM_000023.4(SGCA):c.690G>C (p.Leu230=)
|
rs139454982
|
0.00049
|
|
NM_000231.3(SGCG):c.832G>A (p.Gly278Ser)
|
rs147820869
|
0.00049
|
|
NM_000260.4(MYO7A):c.3283G>A (p.Glu1095Lys)
|
rs199810429
|
0.00049
|
|
NM_000277.3(PAH):c.734T>C (p.Val245Ala)
|
rs76212747
|
0.00049
|
|
NM_001130987.2(DYSF):c.3779G>A (p.Arg1260His)
|
rs2303603
|
0.00049
|
|
NM_001386140.1(MTTP):c.1874C>T (p.Pro625Leu)
|
rs146045390
|
0.00049
|
|
NM_025114.4(CEP290):c.2667G>T (p.Leu889Phe)
|
rs142038791
|
0.00049
|
|
NM_031885.5(BBS2):c.472-10T>C
|
rs138714256
|
0.00049
|
|
NM_138694.4(PKHD1):c.10531G>A (p.Gly3511Arg)
|
rs112030234
|
0.00049
|
|
NM_201253.3(CRB1):c.614T>C (p.Ile205Thr)
|
rs62645749
|
0.00049
|
|
NM_000070.3(CAPN3):c.1663G>A (p.Val555Ile)
|
rs138172448
|
0.00048
|
|
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter)
|
rs1805137
|
0.00048
|
|
NM_001130987.2(DYSF):c.4560C>T (p.Phe1520=)
|
rs544993852
|
0.00048
|
|
NM_001378454.1(ALMS1):c.11353A>G (p.Ile3785Val)
|
rs201819880
|
0.00048
|
|
NM_001378454.1(ALMS1):c.611A>C (p.Glu204Ala)
|
rs200054604
|
0.00048
|
|
NM_022124.6(CDH23):c.1078C>T (p.Leu360=)
|
rs185917383
|
0.00048
|
|
NM_022124.6(CDH23):c.2745C>T (p.Ile915=)
|
rs183220886
|
0.00048
|
|
NM_024301.5(FKRP):c.456C>G (p.Ser152Arg)
|
rs199714523
|
0.00048
|
|
NM_025216.3(WNT10A):c.745G>A (p.Val249Ile)
|
rs770985751
|
0.00048
|
|
NM_033056.4(PCDH15):c.5044G>A (p.Glu1682Lys)
|
rs145499180
|
0.00048
|
|
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)
|
rs137852944
|
0.00048
|
|
NM_138694.4(PKHD1):c.9363T>C (p.Asn3121=)
|
rs183674012
|
0.00048
|
|
NM_152618.3(BBS12):c.1859A>G (p.Gln620Arg)
|
rs139278612
|
0.00048
|
|
NM_206933.4(USH2A):c.2052A>G (p.Gln684=)
|
rs111033248
|
0.00048
|
|
NM_000243.3(MEFV):c.1151T>C (p.Leu384Pro)
|
rs139313647
|
0.00047
|
|
NM_000271.5(NPC1):c.3548G>A (p.Arg1183His)
|
rs148035987
|
0.00047
|
|
NM_001384140.1(PCDH15):c.824G>A (p.Arg275His)
|
rs142678284
|
0.00047
|
|
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)
|
rs76434661
|
0.00047
|
|
NM_014363.6(SACS):c.10443C>G (p.Leu3481=)
|
rs144087359
|
0.00047
|
|
NM_022124.6(CDH23):c.9606C>A (p.Gly3202=)
|
rs193244823
|
0.00047
|
|
NM_152618.3(BBS12):c.1979C>T (p.Pro660Leu)
|
rs147281546
|
0.00047
|
|
NM_152618.3(BBS12):c.978T>A (p.Thr326=)
|
rs115635198
|
0.00047
|
|
NM_153676.4(USH1C):c.2134-11T>C
|
rs200386499
|
0.00047
|
|
NM_206933.4(USH2A):c.12241C>T (p.Arg4081Trp)
|
rs144783615
|
0.00047
|
|
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys)
|
rs28933693
|
0.00046
|
|
NM_000260.4(MYO7A):c.2097C>T (p.Gly699=)
|
rs373495082
|
0.00046
|
|
NM_000260.4(MYO7A):c.4066A>T (p.Ser1356Cys)
|
rs201195495
|
0.00046
|
|
NM_000318.3(PEX2):c.282A>T (p.Arg94Ser)
|
rs140963177
|
0.00046
|
|
NM_000370.3(TTPA):c.178G>A (p.Asp60Asn)
|
rs199636231
|
0.00046
|
|
NM_000492.4(CFTR):c.274-6T>C
|
rs371315549
|
0.00046
|
|
NM_000492.4(CFTR):c.601G>A (p.Val201Met)
|
rs138338446
|
0.00046
|
|
NM_001130987.2(DYSF):c.2697+1G>A
|
rs140108514
|
0.00046
|
|
NM_001384474.1(LOXHD1):c.4523G>A (p.Arg1508Lys)
|
rs199518750
|
0.00046
|
|
NM_002454.3(MTRR):c.540G>A (p.Val180=)
|
rs149037732
|
0.00046
|
|
NM_006019.4(TCIRG1):c.476G>A (p.Gly159Glu)
|
rs199632510
|
0.00046
|
|
NM_025114.4(CEP290):c.2595C>T (p.Leu865=)
|
rs114632733
|
0.00046
|
|
NM_025114.4(CEP290):c.4813-2A>G
|
rs369523378
|
0.00046
|
|
NM_153676.4(USH1C):c.2265C>T (p.Leu755=)
|
rs151251262
|
0.00046
|
|
NM_153676.4(USH1C):c.648G>A (p.Leu216=)
|
rs77137413
|
0.00046
|
|
NM_000057.4(BLM):c.645C>T (p.Ser215=)
|
rs56218710
|
0.00045
|
|
NM_000260.4(MYO7A):c.614T>C (p.Ile205Thr)
|
rs200241993
|
0.00045
|
|
NM_000271.5(NPC1):c.873G>T (p.Trp291Cys)
|
rs138151007
|
0.00045
|
|
NM_000492.4(CFTR):c.509G>A (p.Arg170His)
|
rs1800079
|
0.00045
|
|
NM_001130987.2(DYSF):c.4254C>T (p.Pro1418=)
|
rs142769942
|
0.00045
|
|
NM_001378454.1(ALMS1):c.11255A>G (p.Asn3752Ser)
|
rs199917289
|
0.00045
|
|
NM_002617.4(PEX10):c.418G>C (p.Gly140Arg)
|
rs76530653
|
0.00045
|
|
NM_004004.6(GJB2):c.*1C>T
|
rs111033327
|
0.00045
|
|
NM_022124.6(CDH23):c.5050C>T (p.Arg1684Cys)
|
rs111033522
|
0.00045
|
|
NM_022124.6(CDH23):c.574G>C (p.Glu192Gln)
|
rs199514829
|
0.00045
|
|
NM_031885.5(BBS2):c.525A>G (p.Gly175=)
|
rs34191306
|
0.00045
|
|
NM_206933.4(USH2A):c.12883A>G (p.Ile4295Val)
|
rs137868043
|
0.00045
|
|
NM_000070.3(CAPN3):c.2235C>T (p.Tyr745=)
|
rs147774793
|
0.00044
|
|
NM_001127671.2(LIFR):c.2948C>G (p.Pro983Arg)
|
rs146856673
|
0.00044
|
|
NM_001130987.2(DYSF):c.6174G>A (p.Arg2058=)
|
rs143762717
|
0.00044
|
|
NM_001378454.1(ALMS1):c.4885C>T (p.Arg1629Trp)
|
rs201874722
|
0.00044
|
|
NM_022124.6(CDH23):c.3230C>T (p.Pro1077Leu)
|
rs202101019
|
0.00044
|
|
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys)
|
rs200179145
|
0.00044
|
|
NM_138694.4(PKHD1):c.7067C>T (p.Pro2356Leu)
|
rs141360909
|
0.00044
|
|
NM_201253.3(CRB1):c.2746C>T (p.Leu916Phe)
|
rs140648074
|
0.00044
|
|
NM_000057.4(BLM):c.3798T>G (p.Val1266=)
|
rs138831180
|
0.00043
|
|
NM_000260.4(MYO7A):c.19G>A (p.Gly7Arg)
|
rs372509310
|
0.00043
|
|
NM_000318.3(PEX2):c.322G>C (p.Val108Leu)
|
rs148101729
|
0.00043
|
|
NM_000492.4(CFTR):c.958T>G (p.Leu320Val)
|
rs144476686
|
0.00043
|
|
NM_001130987.2(DYSF):c.4355C>T (p.Ser1452Leu)
|
rs139411595
|
0.00043
|
|
NM_001130987.2(DYSF):c.978A>T (p.Thr326=)
|
rs112007817
|
0.00043
|
|
NM_001384474.1(LOXHD1):c.2575C>T (p.Arg859Trp)
|
rs372546084
|
0.00043
|
|
NM_014363.6(SACS):c.2497G>A (p.Glu833Lys)
|
rs143433500
|
0.00043
|
|
NM_014363.6(SACS):c.3637T>C (p.Leu1213=)
|
rs577638741
|
0.00043
|
|
NM_022124.6(CDH23):c.3022G>A (p.Val1008Met)
|
rs201053044
|
0.00043
|
|
NM_206933.4(USH2A):c.11815G>A (p.Glu3939Lys)
|
rs146264950
|
0.00043
|
|
NM_000260.4(MYO7A):c.186G>A (p.Thr62=)
|
rs368267301
|
0.00042
|
|
NM_000360.4(TH):c.363G>A (p.Pro121=)
|
rs370429316
|
0.00042
|
|
NM_001173990.3(TMEM216):c.289T>A (p.Phe97Ile)
|
rs201614099
|
0.00042
|
|
NM_001384474.1(LOXHD1):c.6524T>C (p.Phe2175Ser)
|
rs546735322
|
0.00042
|
|
NM_153717.3(EVC):c.1540G>A (p.Glu514Lys)
|
rs141896077
|
0.00042
|
|
NM_000232.5(SGCB):c.943G>A (p.Gly315Arg)
|
rs150395645
|
0.00041
|
|
NM_000260.4(MYO7A):c.5640C>T (p.Asn1880=)
|
rs140664109
|
0.00041
|
|
NM_000441.2(SLC26A4):c.2059G>T (p.Asp687Tyr)
|
rs35548413
|
0.00041
|
|
NM_001039958.2(MESP2):c.185G>A (p.Arg62Gln)
|
rs566641514
|
0.00041
|
|
NM_001130987.2(DYSF):c.2477G>A (p.Arg826Gln)
|
rs35297901
|
0.00041
|
|
NM_001384474.1(LOXHD1):c.2352C>T (p.Pro784=)
|
rs111493023
|
0.00041
|
|
NM_001384474.1(LOXHD1):c.5691G>C (p.Leu1897=)
|
rs527820569
|
0.00041
|
|
NM_001384474.1(LOXHD1):c.6460G>A (p.Val2154Ile)
|
rs182149228
|
0.00041
|
|
NM_001384474.1(LOXHD1):c.722A>G (p.Asn241Ser)
|
rs191697915
|
0.00041
|
|
NM_015474.4(SAMHD1):c.1593G>C (p.Arg531Ser)
|
rs145735112
|
0.00041
|
|
NM_024685.4(BBS10):c.886G>A (p.Ala296Thr)
|
rs150587582
|
0.00041
|
|
NM_138694.4(PKHD1):c.6774A>C (p.Val2258=)
|
rs34796823
|
0.00041
|
|
NM_152443.3(RDH12):c.570C>T (p.Ser190=)
|
rs79869437
|
0.00041
|
|
NM_153717.3(EVC):c.1892C>T (p.Thr631Met)
|
rs139481521
|
0.00041
|
|
NM_000260.4(MYO7A):c.2506C>T (p.Arg836Cys)
|
rs375510570
|
0.00040
|
|
NM_000277.3(PAH):c.1315+1G>A
|
rs5030861
|
0.00040
|
|
NM_000370.3(TTPA):c.452G>A (p.Arg151Gln)
|
rs150710403
|
0.00040
|
|
NM_000466.3(PEX1):c.2718+3A>G
|
rs370536529
|
0.00040
|
|
NM_001386140.1(MTTP):c.1023A>G (p.Lys341=)
|
rs145724674
|
0.00040
|
|
NM_002617.4(PEX10):c.816G>T (p.Leu272=)
|
rs144440263
|
0.00040
|
|
NM_006019.4(TCIRG1):c.1296G>A (p.Ala432=)
|
rs200900947
|
0.00040
|
|
NM_022124.6(CDH23):c.2128A>G (p.Ile710Val)
|
rs367750869
|
0.00040
|
|
NM_024685.4(BBS10):c.1276A>G (p.Lys426Glu)
|
rs149596527
|
0.00040
|
|
NM_138694.4(PKHD1):c.129T>C (p.Asp43=)
|
rs201195801
|
0.00040
|
|
NM_206933.4(USH2A):c.2459A>G (p.Asn820Ser)
|
rs34447581
|
0.00040
|
|
NM_206933.4(USH2A):c.9340C>T (p.Pro3114Ser)
|
rs201071654
|
0.00040
|
|
NM_000070.3(CAPN3):c.1643G>A (p.Arg548His)
|
rs146309264
|
0.00039
|
|
NM_000231.3(SGCG):c.157C>T (p.Leu53Phe)
|
rs138880406
|
0.00039
|
|
NM_000232.5(SGCB):c.768C>T (p.Ile256=)
|
rs149121189
|
0.00039
|
|
NM_000287.4(PEX6):c.1757C>T (p.Ala586Val)
|
rs146416679
|
0.00039
|
|
NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val)
|
rs111033303
|
0.00039
|
|
NM_001378454.1(ALMS1):c.2065A>G (p.Thr689Ala)
|
rs201804994
|
0.00039
|
|
NM_001384140.1(PCDH15):c.2290C>T (p.Arg764Cys)
|
rs192813057
|
0.00039
|
|
NM_001384140.1(PCDH15):c.2884C>T (p.Arg962Cys)
|
rs201816080
|
0.00039
|
|
NM_001384140.1(PCDH15):c.3451G>A (p.Gly1151Arg)
|
rs149478475
|
0.00039
|
|
NM_001384474.1(LOXHD1):c.1868G>A (p.Arg623Lys)
|
rs373151735
|
0.00039
|
|
NM_001384474.1(LOXHD1):c.916G>A (p.Asp306Asn)
|
rs769059187
|
0.00039
|
|
NM_015474.4(SAMHD1):c.1832G>A (p.Arg611Gln)
|
rs150713148
|
0.00039
|
|
NM_015474.4(SAMHD1):c.462C>T (p.Tyr154=)
|
rs149267802
|
0.00039
|
|
NM_022124.6(CDH23):c.2163C>T (p.Ile721=)
|
rs192326086
|
0.00039
|
|
NM_022124.6(CDH23):c.8311G>A (p.Gly2771Ser)
|
rs201076440
|
0.00039
|
|
NM_024685.4(BBS10):c.957T>C (p.Val319=)
|
rs139645096
|
0.00039
|
|
NM_138694.4(PKHD1):c.12198C>T (p.His4066=)
|
rs147051900
|
0.00039
|
|
NM_138694.4(PKHD1):c.334G>A (p.Gly112Arg)
|
rs149841071
|
0.00039
|
|
NM_138694.4(PKHD1):c.4450G>A (p.Ala1484Thr)
|
rs144905283
|
0.00039
|
|
NM_206933.4(USH2A):c.7595A>C (p.Lys2532Thr)
|
rs112273610
|
0.00039
|
|
NM_000023.4(SGCA):c.1047C>T (p.Ala349=)
|
rs199518562
|
0.00038
|
|
NM_000057.4(BLM):c.816G>A (p.Lys272=)
|
rs139295905
|
0.00038
|
|
NM_001384474.1(LOXHD1):c.197C>G (p.Thr66Arg)
|
rs199536893
|
0.00038
|
|
NM_006019.4(TCIRG1):c.154G>C (p.Val52Leu)
|
rs118141250
|
0.00038
|
|
NM_022124.6(CDH23):c.7049C>T (p.Ser2350Leu)
|
rs371522435
|
0.00038
|
|
NM_138694.4(PKHD1):c.1234-9T>C
|
rs200707468
|
0.00038
|
|
NM_138694.4(PKHD1):c.9402G>A (p.Lys3134=)
|
rs143737660
|
0.00038
|
|
NM_206933.4(USH2A):c.6930G>A (p.Thr2310=)
|
rs146406377
|
0.00038
|
|
NM_000260.4(MYO7A):c.735+3G>A
|
rs371398512
|
0.00037
|
|
NM_000287.4(PEX6):c.503C>T (p.Pro168Leu)
|
rs200026148
|
0.00037
|
|
NM_000784.4(CYP27A1):c.1419C>T (p.Val473=)
|
rs138596741
|
0.00037
|
|
NM_001130987.2(DYSF):c.4542C>T (p.Ile1514=)
|
rs148055736
|
0.00037
|
|
NM_001130987.2(DYSF):c.803A>C (p.Asn268Thr)
|
rs150917600
|
0.00037
|
|
NM_001378454.1(ALMS1):c.3375A>G (p.Val1125=)
|
rs189914793
|
0.00037
|
|
NM_152443.3(RDH12):c.301G>A (p.Asp101Asn)
|
rs148334092
|
0.00037
|
|
NM_152443.3(RDH12):c.579C>T (p.Arg193=)
|
rs142117351
|
0.00037
|
|
NM_153717.3(EVC):c.2805G>A (p.Arg935=)
|
rs143631233
|
0.00037
|
|
NM_000070.3(CAPN3):c.2409A>G (p.Gly803=)
|
rs143139259
|
0.00036
|
|
NM_000231.3(SGCG):c.716C>T (p.Ala239Val)
|
rs149086397
|
0.00036
|
|
NM_000260.4(MYO7A):c.2057G>A (p.Arg686His)
|
rs781991817
|
0.00036
|
|
NM_000260.4(MYO7A):c.3291G>A (p.Gln1097=)
|
rs561459113
|
0.00036
|
|
NM_000260.4(MYO7A):c.449G>A (p.Arg150Gln)
|
rs202245413
|
0.00036
|
|
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)
|
rs62642937
|
0.00036
|
|
NM_001017420.3(ESCO2):c.1548G>A (p.Thr516=)
|
rs149917909
|
0.00036
|
|
NM_001173990.3(TMEM216):c.113A>G (p.Glu38Gly)
|
rs568253718
|
0.00036
|
|
NM_001378454.1(ALMS1):c.4329G>T (p.Leu1443Phe)
|
rs192499639
|
0.00036
|
|
NM_001378454.1(ALMS1):c.8359A>G (p.Ile2787Val)
|
rs200075429
|
0.00036
|
|
NM_001384140.1(PCDH15):c.1339G>A (p.Asp447Asn)
|
rs150509146
|
0.00036
|
|
NM_001384474.1(LOXHD1):c.166G>A (p.Gly56Ser)
|
rs200763838
|
0.00036
|
|
NM_014363.6(SACS):c.1278A>T (p.Leu426Phe)
|
rs138413501
|
0.00036
|
|
NM_025114.4(CEP290):c.2479C>G (p.Leu827Val)
|
rs201569048
|
0.00036
|
|
NM_138694.4(PKHD1):c.333C>T (p.Phe111=)
|
rs145815264
|
0.00036
|
|
NM_138694.4(PKHD1):c.9925A>G (p.Ile3309Val)
|
rs45627337
|
0.00036
|
|
NM_153717.3(EVC):c.1321G>A (p.Val441Ile)
|
rs202150959
|
0.00036
|
|
NM_153717.3(EVC):c.1886+5G>T
|
rs794726665
|
0.00036
|
|
NM_206933.4(USH2A):c.5751C>T (p.Tyr1917=)
|
rs145742052
|
0.00036
|
|
NM_000243.3(MEFV):c.1260+10C>T
|
rs104895137
|
0.00035
|
|
NM_000243.3(MEFV):c.372C>T (p.Pro124=)
|
rs104895078
|
0.00035
|
|
NM_000260.4(MYO7A):c.3536T>A (p.Leu1179Gln)
|
rs199918940
|
0.00035
|
|
NM_000277.3(PAH):c.299A>G (p.His100Arg)
|
rs148393887
|
0.00035
|
|
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro)
|
rs80338848
|
0.00035
|
|
NM_001384140.1(PCDH15):c.4320G>A (p.Pro1440=)
|
rs12246234
|
0.00035
|
|
NM_002617.4(PEX10):c.765G>A (p.Leu255=)
|
rs140133667
|
0.00035
|
|
NM_006118.4(HAX1):c.117_122dup (p.Glu40_Gly41dup)
|
rs781468690
|
0.00035
|
|
NM_014363.6(SACS):c.3144A>G (p.Val1048=)
|
rs3751369
|
0.00035
|
|
NM_022124.6(CDH23):c.3178C>T (p.Arg1060Trp)
|
rs201536811
|
0.00035
|
|
NM_022124.6(CDH23):c.5931T>C (p.Pro1977=)
|
rs373457993
|
0.00035
|
|
NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys)
|
rs41281336
|
0.00035
|
|
NM_138694.4(PKHD1):c.325G>A (p.Ala109Thr)
|
rs143979330
|
0.00035
|
|
NM_138694.4(PKHD1):c.3838C>T (p.Arg1280Cys)
|
rs144042993
|
0.00035
|
|
NM_201253.3(CRB1):c.135C>G (p.Cys45Trp)
|
rs145141811
|
0.00035
|
|
NM_201253.3(CRB1):c.2976A>G (p.Ala992=)
|
rs200379694
|
0.00035
|
|
NM_000057.4(BLM):c.1467G>A (p.Arg489=)
|
rs56257041
|
0.00034
|
|
NM_000057.4(BLM):c.759G>A (p.Gln253=)
|
rs34580216
|
0.00034
|
|
NM_000057.4(BLM):c.780T>C (p.Thr260=)
|
rs55763079
|
0.00034
|
|
NM_000070.3(CAPN3):c.1543G>A (p.Gly515Arg)
|
rs150226817
|
0.00034
|
|
NM_000070.3(CAPN3):c.246G>A (p.Pro82=)
|
rs146529432
|
0.00034
|
|
NM_000243.3(MEFV):c.1344A>C (p.Ala448=)
|
rs143337771
|
0.00034
|
|
NM_000243.3(MEFV):c.2292G>T (p.Gly764=)
|
rs142352887
|
0.00034
|
|
NM_000260.4(MYO7A):c.3415G>A (p.Gly1139Ser)
|
rs200840044
|
0.00034
|
|
NM_000260.4(MYO7A):c.4757A>G (p.Asn1586Ser)
|
rs201251963
|
0.00034
|
|
NM_000260.4(MYO7A):c.5169-5G>A
|
rs727505232
|
0.00034
|
|
NM_000260.4(MYO7A):c.687C>T (p.Gly229=)
|
rs371142158
|
0.00034
|
|
NM_000271.5(NPC1):c.180G>T (p.Gln60His)
|
rs145666943
|
0.00034
|
|
NM_000277.3(PAH):c.898G>T (p.Ala300Ser)
|
rs5030853
|
0.00034
|
|
NM_000360.4(TH):c.1255G>A (p.Val419Met)
|
rs184106392
|
0.00034
|
|
NM_000441.2(SLC26A4):c.1614+7A>G
|
rs199643344
|
0.00034
|
|
NM_000466.3(PEX1):c.939T>C (p.His313=)
|
rs199647157
|
0.00034
|
|
NM_000492.4(CFTR):c.1516A>G (p.Ile506Val)
|
rs1800091
|
0.00034
|
|
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met)
|
rs1800103
|
0.00034
|
|
NM_000525.4(KCNJ11):c.27C>T (p.Pro9=)
|
rs374134161
|
0.00034
|
|
NM_000784.4(CYP27A1):c.891G>T (p.Leu297=)
|
rs144455258
|
0.00034
|
|
NM_001130987.2(DYSF):c.4597T>C (p.Tyr1533His)
|
rs150139276
|
0.00034
|
|
NM_001130987.2(DYSF):c.5216A>T (p.Gln1739Leu)
|
rs149408006
|
0.00034
|
|
NM_001384140.1(PCDH15):c.662A>G (p.Asn221Ser)
|
rs139547641
|
0.00034
|
|
NM_002617.4(PEX10):c.812C>T (p.Pro271Leu)
|
rs142088776
|
0.00034
|
|
NM_015474.4(SAMHD1):c.768A>G (p.Gln256=)
|
rs140804613
|
0.00034
|
|
NM_022124.6(CDH23):c.9617G>A (p.Arg3206His)
|
rs374156784
|
0.00034
|
|
NM_024685.4(BBS10):c.752C>T (p.Ala251Val)
|
rs149760791
|
0.00034
|
|
NM_031885.5(BBS2):c.2079G>A (p.Gln693=)
|
rs150797250
|
0.00034
|
|
NM_206933.4(USH2A):c.5609G>A (p.Arg1870Gln)
|
rs111033409
|
0.00034
|
|
NM_000260.4(MYO7A):c.2282+5G>A
|
rs540145750
|
0.00033
|
|
NM_001130987.2(DYSF):c.5333C>A (p.Pro1778Gln)
|
rs145272777
|
0.00033
|
|
NM_022124.6(CDH23):c.10044C>G (p.Pro3348=)
|
rs370568585
|
0.00033
|
|
NM_031885.5(BBS2):c.995G>A (p.Ser332Asn)
|
rs199655331
|
0.00033
|
|
NM_206933.4(USH2A):c.6590C>T (p.Thr2197Ile)
|
rs140487302
|
0.00033
|
|
NM_000057.4(BLM):c.3041A>G (p.His1014Arg)
|
rs145022945
|
0.00032
|
|
NM_000260.4(MYO7A):c.5108C>T (p.Ala1703Val)
|
rs199561332
|
0.00032
|
|
NM_000260.4(MYO7A):c.5253G>T (p.Pro1751=)
|
rs377388669
|
0.00032
|
|
NM_000277.3(PAH):c.194T>C (p.Ile65Thr)
|
rs75193786
|
0.00032
|
|
NM_000466.3(PEX1):c.3503A>G (p.Asp1168Gly)
|
rs182452430
|
0.00032
|
|
NM_001378454.1(ALMS1):c.8453C>T (p.Thr2818Ile)
|
rs373211307
|
0.00032
|
|
NM_001384474.1(LOXHD1):c.4082G>A (p.Arg1361His)
|
rs374474061
|
0.00032
|
|
NM_001384474.1(LOXHD1):c.4632G>A (p.Lys1544=)
|
rs924829697
|
0.00032
|
|
NM_001386140.1(MTTP):c.146G>A (p.Gly49Glu)
|
rs145545828
|
0.00032
|
|
NM_014363.6(SACS):c.1562G>C (p.Ser521Thr)
|
rs190617851
|
0.00032
|
|
NM_014363.6(SACS):c.5583G>C (p.Trp1861Cys)
|
rs140678034
|
0.00032
|
|
NM_014363.6(SACS):c.7725A>T (p.Ile2575=)
|
rs200735789
|
0.00032
|
|
NM_025114.4(CEP290):c.1908A>T (p.Lys636Asn)
|
rs199747962
|
0.00032
|
|
NM_025114.4(CEP290):c.6116A>G (p.Asp2039Gly)
|
rs192259143
|
0.00032
|
|
NM_025114.4(CEP290):c.6452T>C (p.Leu2151Ser)
|
rs191613017
|
0.00032
|
|
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr)
|
rs1801256
|
0.00031
|
|
NM_000070.3(CAPN3):c.232C>A (p.Pro78Thr)
|
rs138867099
|
0.00031
|
|
NM_000231.3(SGCG):c.8G>A (p.Arg3His)
|
rs35105771
|
0.00031
|
|
NM_000260.4(MYO7A):c.448C>A (p.Arg150=)
|
rs121965079
|
0.00031
|
|
NM_000317.3(PTS):c.17G>T (p.Gly6Val)
|
rs138154701
|
0.00031
|
|
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys)
|
rs121908096
|
0.00031
|
|
NM_001130987.2(DYSF):c.3002A>C (p.Lys1001Thr)
|
rs34061568
|
0.00031
|
|
NM_001130987.2(DYSF):c.3408C>T (p.Gly1136=)
|
rs146498307
|
0.00031
|
|
NM_001384140.1(PCDH15):c.1762A>G (p.Asn588Asp)
|
rs143897176
|
0.00031
|
|
NM_001384140.1(PCDH15):c.4203-8C>G
|
rs200840022
|
0.00031
|
|
NM_003384.3(VRK1):c.901A>G (p.Lys301Glu)
|
rs149661915
|
0.00031
|
|
NM_006432.5(NPC2):c.212A>G (p.Lys71Arg)
|
rs142075589
|
0.00031
|
|
NM_006432.5(NPC2):c.273T>C (p.Asp91=)
|
rs151071820
|
0.00031
|
|
NM_014363.6(SACS):c.10008A>G (p.Lys3336=)
|
rs148971954
|
0.00031
|
|
NM_014363.6(SACS):c.2580A>G (p.Gln860=)
|
rs41283958
|
0.00031
|
|
NM_022124.6(CDH23):c.10021C>T (p.Arg3341Cys)
|
rs370074117
|
0.00031
|
|
NM_022124.6(CDH23):c.2341G>A (p.Ala781Thr)
|
rs375918283
|
0.00031
|
|
NM_022124.6(CDH23):c.6377G>A (p.Arg2126His)
|
rs201942629
|
0.00031
|
|
NM_024301.5(FKRP):c.1306C>T (p.Arg436Trp)
|
rs144236975
|
0.00031
|
|
NM_024649.5(BBS1):c.734C>T (p.Pro245Leu)
|
rs151203205
|
0.00031
|
|
NM_025114.4(CEP290):c.5185C>T (p.Arg1729Trp)
|
rs201353893
|
0.00031
|
|
NM_206933.4(USH2A):c.14519T>C (p.Leu4840Pro)
|
rs143275144
|
0.00031
|
|
NM_206933.4(USH2A):c.5980G>A (p.Glu1994Lys)
|
rs147023536
|
0.00031
|
|
NM_206933.4(USH2A):c.9915G>C (p.Glu3305Asp)
|
rs145278250
|
0.00031
|
|
NM_000019.4(ACAT1):c.1217A>G (p.Glu406Gly)
|
rs147872303
|
0.00030
|
|
NM_000260.4(MYO7A):c.324C>T (p.Tyr108=)
|
rs116892396
|
0.00030
|
|
NM_000260.4(MYO7A):c.731G>A (p.Arg244His)
|
rs121965081
|
0.00030
|
|
NM_000271.5(NPC1):c.3717C>T (p.His1239=)
|
rs34624018
|
0.00030
|
|
NM_000287.4(PEX6):c.1670A>G (p.Asn557Ser)
|
rs138621982
|
0.00030
|
|
NM_000318.3(PEX2):c.304C>A (p.Gln102Lys)
|
rs200065382
|
0.00030
|
|
NM_000382.3(ALDH3A2):c.417G>A (p.Leu139=)
|
rs200806435
|
0.00030
|
|
NM_001130987.2(DYSF):c.6063G>A (p.Ala2021=)
|
rs138936064
|
0.00030
|
|
NM_001384474.1(LOXHD1):c.2100G>A (p.Thr700=)
|
rs367826075
|
0.00030
|
|
NM_002485.5(NBN):c.1690G>A (p.Glu564Lys)
|
rs72550742
|
0.00030
|
|
NM_022124.6(CDH23):c.385G>A (p.Ala129Thr)
|
rs200328570
|
0.00030
|
|
NM_025114.4(CEP290):c.4250A>G (p.Gln1417Arg)
|
rs201504946
|
0.00030
|
|
NM_031885.5(BBS2):c.358G>A (p.Ala120Thr)
|
rs148808295
|
0.00030
|
|
NM_000057.4(BLM):c.2115T>C (p.Val705=)
|
rs142787700
|
0.00029
|
|
NM_000057.4(BLM):c.43C>T (p.Arg15Cys)
|
rs148545569
|
0.00029
|
|
NM_000070.3(CAPN3):c.1842G>C (p.Glu614Asp)
|
rs201607149
|
0.00029
|
|
NM_000070.3(CAPN3):c.950T>C (p.Ile317Thr)
|
rs371362494
|
0.00029
|
|
NM_000232.5(SGCB):c.151C>T (p.Arg51Cys)
|
rs144743676
|
0.00029
|
|
NM_000243.3(MEFV):c.1827C>G (p.Pro609=)
|
rs104895135
|
0.00029
|
|
NM_000260.4(MYO7A):c.1960C>T (p.Arg654Cys)
|
rs201928014
|
0.00029
|
|
NM_000260.4(MYO7A):c.2218C>T (p.Arg740Trp)
|
rs201234369
|
0.00029
|
|
NM_000260.4(MYO7A):c.2293C>A (p.Leu765Met)
|
rs201203036
|
0.00029
|
|
NM_000260.4(MYO7A):c.2798G>A (p.Arg933His)
|
rs201489714
|
0.00029
|
|
NM_000260.4(MYO7A):c.6165C>T (p.Ser2055=)
|
rs397516327
|
0.00029
|
|
NM_000271.5(NPC1):c.3246-8C>T
|
rs145227129
|
0.00029
|
|
NM_000287.4(PEX6):c.25C>T (p.Leu9=)
|
rs183449855
|
0.00029
|
|
NM_000287.4(PEX6):c.2700C>T (p.Asn900=)
|
rs533766104
|
0.00029
|
|
NM_000360.4(TH):c.406G>A (p.Val136Met)
|
rs142046543
|
0.00029
|
|
NM_000360.4(TH):c.91-891G>A
|
rs371277838
|
0.00029
|
|
NM_000441.2(SLC26A4):c.1001+1G>A
|
rs80338849
|
0.00029
|
|
NM_000441.2(SLC26A4):c.872G>A (p.Arg291Gln)
|
rs138816005
|
0.00029
|
|
NM_000466.3(PEX1):c.1360-7C>T
|
rs371890000
|
0.00029
|
|
NM_000466.3(PEX1):c.3044A>C (p.Glu1015Ala)
|
rs185181696
|
0.00029
|
|
NM_000492.4(CFTR):c.3558A>G (p.Gln1186=)
|
rs1800121
|
0.00029
|
|
NM_000525.4(KCNJ11):c.843C>T (p.Leu281=)
|
rs116392938
|
0.00029
|
|
NM_001378454.1(ALMS1):c.9617C>T (p.Thr3206Ile)
|
rs201624771
|
0.00029
|
|
NM_001384474.1(LOXHD1):c.5400-3C>T
|
rs528236655
|
0.00029
|
|
NM_002617.4(PEX10):c.316C>T (p.Leu106=)
|
rs140340426
|
0.00029
|
|
NM_006019.4(TCIRG1):c.2046T>C (p.Pro682=)
|
rs373493580
|
0.00029
|
|
NM_006019.4(TCIRG1):c.2163C>T (p.Ile721=)
|
rs145718040
|
0.00029
|
|
NM_006118.4(HAX1):c.428G>C (p.Gly143Ala)
|
rs755031266
|
0.00029
|
|
NM_014363.6(SACS):c.2929C>T (p.Leu977=)
|
rs146296924
|
0.00029
|
|
NM_014363.6(SACS):c.9562T>C (p.Phe3188Leu)
|
rs137905181
|
0.00029
|
|
NM_015702.3(MMADHC):c.557T>C (p.Met186Thr)
|
rs61755260
|
0.00029
|
|
NM_022124.6(CDH23):c.1814C>T (p.Ala605Val)
|
rs201475055
|
0.00029
|
|
NM_022124.6(CDH23):c.5735G>A (p.Arg1912Gln)
|
rs142663207
|
0.00029
|
|
NM_024649.5(BBS1):c.1695+10G>A
|
rs200276861
|
0.00029
|
|
NM_025114.4(CEP290):c.2991+1655A>G
|
rs281865192
|
0.00029
|
|
NM_025114.4(CEP290):c.503G>A (p.Arg168His)
|
rs200063017
|
0.00029
|
|
NM_025114.4(CEP290):c.6078A>G (p.Gln2026=)
|
rs763570903
|
0.00029
|
|
NM_138694.4(PKHD1):c.2168G>T (p.Arg723Leu)
|
rs150597050
|
0.00029
|
|
NM_138694.4(PKHD1):c.4266G>A (p.Arg1422=)
|
rs146468152
|
0.00029
|
|
NM_152443.3(RDH12):c.869T>G (p.Val290Gly)
|
rs61740289
|
0.00029
|
|
NM_206933.4(USH2A):c.15364T>C (p.Cys5122Arg)
|
rs111033402
|
0.00029
|
|
NM_206933.4(USH2A):c.3320T>G (p.Ile1107Ser)
|
rs146372677
|
0.00029
|
|
NM_000232.5(SGCB):c.496A>G (p.Ile166Val)
|
rs138877636
|
0.00028
|
|
NM_000260.4(MYO7A):c.5495G>A (p.Arg1832Gln)
|
rs372768607
|
0.00028
|
|
NM_000277.3(PAH):c.1066-11G>A
|
rs5030855
|
0.00028
|
|
NM_000466.3(PEX1):c.3031G>A (p.Val1011Met)
|
rs141650598
|
0.00028
|
|
NM_000466.3(PEX1):c.3106G>T (p.Ala1036Ser)
|
rs754130942
|
0.00028
|
|
NM_001130987.2(DYSF):c.1311C>T (p.Ile437=)
|
rs148697028
|
0.00028
|
|
NM_001384140.1(PCDH15):c.3502-6G>A
|
rs749897896
|
0.00028
|
|
NM_001384474.1(LOXHD1):c.4824C>G (p.Val1608=)
|
rs114557260
|
0.00028
|
|
NM_001386140.1(MTTP):c.111G>A (p.Thr37=)
|
rs147921439
|
0.00028
|
|
NM_001386140.1(MTTP):c.2657C>T (p.Pro886Leu)
|
rs144600401
|
0.00028
|
|
NM_022124.6(CDH23):c.4095C>T (p.Asp1365=)
|
rs368582818
|
0.00028
|
|
NM_022124.6(CDH23):c.8859C>T (p.Asp2953=)
|
rs11000008
|
0.00028
|
|
NM_022124.6(CDH23):c.8886C>T (p.Asn2962=)
|
rs376881824
|
0.00028
|
|
NM_024649.5(BBS1):c.1772C>T (p.Ala591Val)
|
rs144492051
|
0.00028
|
|
NM_138694.4(PKHD1):c.5235C>T (p.Phe1745=)
|
rs187667255
|
0.00028
|
|
NM_000023.4(SGCA):c.662G>A (p.Arg221His)
|
rs138254713
|
0.00027
|
|
NM_000231.3(SGCG):c.235C>T (p.Arg79Cys)
|
rs148404730
|
0.00027
|
|
NM_000260.4(MYO7A):c.758A>G (p.His253Arg)
|
rs375200566
|
0.00027
|
|
NM_000271.5(NPC1):c.1011G>T (p.Arg337=)
|
rs147795644
|
0.00027
|
|
NM_000318.3(PEX2):c.447T>G (p.Gly149=)
|
rs375401977
|
0.00027
|
|
NM_000360.4(TH):c.627C>G (p.Ile209Met)
|
rs202149985
|
0.00027
|
|
NM_001384140.1(PCDH15):c.2908G>A (p.Val970Ile)
|
rs138338096
|
0.00027
|
|
NM_001384474.1(LOXHD1):c.4031G>T (p.Cys1344Phe)
|
rs368870055
|
0.00027
|
|
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser)
|
rs104895032
|
0.00027
|
|
NM_022124.6(CDH23):c.5831T>C (p.Leu1944Ser)
|
rs201876362
|
0.00027
|
|
NM_138694.4(PKHD1):c.4038C>T (p.Asn1346=)
|
rs147584295
|
0.00027
|
|
NM_206933.4(USH2A):c.15029A>T (p.Gln5010Leu)
|
rs138640647
|
0.00027
|
|
NM_206933.4(USH2A):c.7416G>A (p.Gln2472=)
|
rs145783712
|
0.00027
|
|
NM_206933.4(USH2A):c.8357T>C (p.Phe2786Ser)
|
rs111033262
|
0.00027
|
|
NM_000023.4(SGCA):c.115A>G (p.Thr39Ala)
|
rs540292629
|
0.00026
|
|
NM_000057.4(BLM):c.191A>T (p.Asp64Val)
|
rs140382474
|
0.00026
|
|
NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr)
|
rs148044781
|
0.00026
|
|
NM_000287.4(PEX6):c.1884+3G>A
|
rs377041406
|
0.00026
|
|
NM_000317.3(PTS):c.195T>C (p.Pro65=)
|
rs143472856
|
0.00026
|
|
NM_000360.4(TH):c.594G>T (p.Val198=)
|
rs544661832
|
0.00026
|
|
NM_000441.2(SLC26A4):c.1001+30A>G
|
rs556184448
|
0.00026
|
|
NM_000441.2(SLC26A4):c.2236-25T>A
|
rs2301634
|
0.00026
|
|
NM_000492.4(CFTR):c.374T>C (p.Ile125Thr)
|
rs141723617
|
0.00026
|
|
NM_001039958.2(MESP2):c.357G>C (p.Leu119=)
|
rs575410954
|
0.00026
|
|
NM_001130987.2(DYSF):c.1407G>A (p.Thr469=)
|
rs150093305
|
0.00026
|
|
NM_001378454.1(ALMS1):c.11626A>G (p.Asn3876Asp)
|
rs377130177
|
0.00026
|
|
NM_001378454.1(ALMS1):c.9589T>A (p.Ser3197Thr)
|
rs369682692
|
0.00026
|
|
NM_001378454.1(ALMS1):c.9976G>C (p.Ala3326Pro)
|
rs201213079
|
0.00026
|
|
NM_001384140.1(PCDH15):c.2728G>T (p.Ala910Ser)
|
rs139175351
|
0.00026
|
|
NM_001384140.1(PCDH15):c.3724G>A (p.Val1242Met)
|
rs201137087
|
0.00026
|
|
NM_001384474.1(LOXHD1):c.1313A>G (p.Lys438Arg)
|
rs186138859
|
0.00026
|
|
NM_001384474.1(LOXHD1):c.231C>T (p.Leu77=)
|
rs200306249
|
0.00026
|
|
NM_001386140.1(MTTP):c.1893C>T (p.Tyr631=)
|
rs151204426
|
0.00026
|
|
NM_006118.4(HAX1):c.91del (p.Glu31fs)
|
rs764082747
|
0.00026
|
|
NM_007259.5(VPS45):c.-4C>T
|
rs200563209
|
0.00026
|
|
NM_014363.6(SACS):c.3443A>C (p.Lys1148Thr)
|
rs140028127
|
0.00026
|
|
NM_022124.6(CDH23):c.1637G>A (p.Arg546Gln)
|
rs199508694
|
0.00026
|
|
NM_022124.6(CDH23):c.3986G>A (p.Gly1329Asp)
|
rs201877610
|
0.00026
|
|
NM_022124.6(CDH23):c.4621G>A (p.Val1541Met)
|
rs565657378
|
0.00026
|
|
NM_022124.6(CDH23):c.772A>G (p.Ile258Val)
|
rs370782827
|
0.00026
|
|
NM_022124.6(CDH23):c.9629T>C (p.Ile3210Thr)
|
rs144688588
|
0.00026
|
|
NM_024301.5(FKRP):c.1003G>A (p.Ala335Thr)
|
rs776947530
|
0.00026
|
|
NM_138694.4(PKHD1):c.11400G>A (p.Gly3800=)
|
rs149427926
|
0.00026
|
|
NM_206933.4(USH2A):c.10374G>A (p.Thr3458=)
|
rs137963595
|
0.00026
|
|
NM_206933.4(USH2A):c.13133C>T (p.Pro4378Leu)
|
rs570277510
|
0.00026
|
|
NM_206933.4(USH2A):c.13396C>T (p.Pro4466Ser)
|
rs138398671
|
0.00026
|
|
NM_206933.4(USH2A):c.14069A>G (p.Tyr4690Cys)
|
rs150280500
|
0.00026
|
|
NM_206933.4(USH2A):c.6001C>T (p.Arg2001Cys)
|
rs141539554
|
0.00026
|
|
NM_206933.4(USH2A):c.7167C>T (p.Ser2389=)
|
rs200243588
|
0.00026
|
|
NM_000057.4(BLM):c.2838A>G (p.Thr946=)
|
rs200850440
|
0.00025
|
|
NM_000232.5(SGCB):c.495C>T (p.Asp165=)
|
rs142801720
|
0.00025
|
|
NM_000232.5(SGCB):c.794C>T (p.Thr265Ile)
|
rs116214830
|
0.00025
|
|
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr)
|
rs80358259
|
0.00025
|
|
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys)
|
rs5030860
|
0.00025
|
|
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)
|
rs61750420
|
0.00025
|
|
NM_000492.4(CFTR):c.4197C>G (p.Leu1399=)
|
rs79688066
|
0.00025
|
|
NM_001130987.2(DYSF):c.2668G>A (p.Glu890Lys)
|
rs200049922
|
0.00025
|
|
NM_001384474.1(LOXHD1):c.6082G>A (p.Gly2028Ser)
|
rs569121054
|
0.00025
|
|
NM_002454.3(MTRR):c.906T>C (p.Asn302=)
|
rs144729918
|
0.00025
|
|
NM_002485.5(NBN):c.1405G>T (p.Asp469Tyr)
|
rs148205441
|
0.00025
|
|
NM_002617.4(PEX10):c.622G>A (p.Gly208Arg)
|
rs138489241
|
0.00025
|
|
NM_006019.4(TCIRG1):c.1464-10G>A
|
rs370060039
|
0.00025
|
|
NM_006019.4(TCIRG1):c.2193C>T (p.Thr731=)
|
rs141601593
|
0.00025
|
|
NM_022124.6(CDH23):c.3118G>T (p.Asp1040Tyr)
|
rs200177873
|
0.00025
|
|
NM_022124.6(CDH23):c.6026T>A (p.Leu2009His)
|
rs201067092
|
0.00025
|
|
NM_022124.6(CDH23):c.6489G>C (p.Leu2163=)
|
rs111033493
|
0.00025
|
|
NM_025114.4(CEP290):c.1742A>C (p.Glu581Ala)
|
rs77579747
|
0.00025
|
|
NM_025216.3(WNT10A):c.234C>T (p.His78=)
|
rs199802454
|
0.00025
|
|
NM_138694.4(PKHD1):c.10909C>T (p.Arg3637Cys)
|
rs141349745
|
0.00025
|
|
NM_138694.4(PKHD1):c.130+9G>A
|
rs367608402
|
0.00025
|
|
NM_138694.4(PKHD1):c.9493G>A (p.Val3165Met)
|
rs199621305
|
0.00025
|
|
NM_152618.3(BBS12):c.1257C>T (p.Ser419=)
|
rs34652786
|
0.00025
|
|
NM_201253.3(CRB1):c.866C>T (p.Thr289Met)
|
rs62636263
|
0.00025
|
|
NM_206933.4(USH2A):c.10490A>G (p.Asp3497Gly)
|
rs146569216
|
0.00025
|
|
NM_206933.4(USH2A):c.1439T>C (p.Val480Ala)
|
rs200981928
|
0.00025
|
|
NM_000023.4(SGCA):c.680C>G (p.Pro227Arg)
|
rs201131924
|
0.00024
|
|
NM_000057.4(BLM):c.3225A>G (p.Arg1075=)
|
rs7171673
|
0.00024
|
|
NM_000070.3(CAPN3):c.725G>A (p.Arg242Lys)
|
rs146253209
|
0.00024
|
|
NM_000260.4(MYO7A):c.1132C>T (p.Arg378Cys)
|
rs199818783
|
0.00024
|
|
NM_000260.4(MYO7A):c.2527G>A (p.Val843Met)
|
rs140559111
|
0.00024
|
|
NM_000287.4(PEX6):c.488G>C (p.Arg163Pro)
|
rs778791031
|
0.00024
|
|
NM_000360.4(TH):c.1334+3G>C
|
rs371566928
|
0.00024
|
|
NM_000466.3(PEX1):c.2868T>A (p.Val956=)
|
rs200663477
|
0.00024
|
|
NM_001130987.2(DYSF):c.3125C>T (p.Pro1042Leu)
|
rs372880553
|
0.00024
|
|
NM_001130987.2(DYSF):c.3343C>T (p.Arg1115Cys)
|
rs147483765
|
0.00024
|
|
NM_001130987.2(DYSF):c.4780C>T (p.Pro1594Ser)
|
rs149768871
|
0.00024
|
|
NM_001378454.1(ALMS1):c.8765T>C (p.Ile2922Thr)
|
rs201738475
|
0.00024
|
|
NM_001384140.1(PCDH15):c.2194G>A (p.Ala732Thr)
|
rs148162562
|
0.00024
|
|
NM_001384140.1(PCDH15):c.298G>A (p.Gly100Arg)
|
rs140716525
|
0.00024
|
|
NM_001384140.1(PCDH15):c.593C>T (p.Pro198Leu)
|
rs145232643
|
0.00024
|
|
NM_001692.4(ATP6V1B1):c.112C>T (p.Arg38Cys)
|
rs145773738
|
0.00024
|
|
NM_014363.6(SACS):c.2806C>A (p.Gln936Lys)
|
rs61978562
|
0.00024
|
|
NM_014363.6(SACS):c.8577C>T (p.His2859=)
|
rs140016265
|
0.00024
|
|
NM_022124.6(CDH23):c.1981G>A (p.Val661Met)
|
rs369157174
|
0.00024
|
|
NM_025114.4(CEP290):c.3660G>T (p.Lys1220Asn)
|
rs201982308
|
0.00024
|
|
NM_025114.4(CEP290):c.4182G>A (p.Val1394=)
|
rs371530941
|
0.00024
|
|
NM_025114.4(CEP290):c.6628C>T (p.Arg2210Cys)
|
rs374852145
|
0.00024
|
|
NM_031885.5(BBS2):c.1104C>T (p.Asn368=)
|
rs141731677
|
0.00024
|
|
NM_033056.4(PCDH15):c.5404A>G (p.Thr1802Ala)
|
rs150069992
|
0.00024
|
|
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg)
|
rs149798764
|
0.00024
|
|
NM_138694.4(PKHD1):c.1257C>T (p.Val419=)
|
rs374650666
|
0.00024
|
|
NM_138694.4(PKHD1):c.6216T>G (p.Pro2072=)
|
rs148817026
|
0.00024
|
|
NM_153676.4(USH1C):c.275G>A (p.Arg92His)
|
rs147954324
|
0.00024
|
|
NM_000057.4(BLM):c.174T>C (p.Pro58=)
|
rs576862402
|
0.00023
|
|
NM_000057.4(BLM):c.4220G>A (p.Arg1407Lys)
|
rs557057587
|
0.00023
|
|
NM_000232.5(SGCB):c.31C>G (p.Gln11Glu)
|
rs752492870
|
0.00023
|
|
NM_000260.4(MYO7A):c.1288C>T (p.Arg430Cys)
|
rs201839693
|
0.00023
|
|
NM_000260.4(MYO7A):c.3038C>T (p.Thr1013Ile)
|
rs369539923
|
0.00023
|
|
NM_000277.3(PAH):c.165T>G (p.Phe55Leu)
|
rs199475598
|
0.00023
|
|
NM_000360.4(TH):c.1349G>A (p.Arg450His)
|
rs138291013
|
0.00023
|
|
NM_000360.4(TH):c.1368C>T (p.Ser456=)
|
rs45538536
|
0.00023
|
|
NM_000382.3(ALDH3A2):c.1108-3C>T
|
rs148944691
|
0.00023
|
|
NM_001378454.1(ALMS1):c.11070C>T (p.Gly3690=)
|
rs371329585
|
0.00023
|
|
NM_001692.4(ATP6V1B1):c.77T>C (p.Met26Thr)
|
rs527738649
|
0.00023
|
|
NM_002454.3(MTRR):c.2071C>T (p.Arg691Cys)
|
rs148414435
|
0.00023
|
|
NM_014363.6(SACS):c.1884C>T (p.Pro628=)
|
rs144468379
|
0.00023
|
|
NM_022124.6(CDH23):c.1595C>T (p.Thr532Met)
|
rs201297042
|
0.00023
|
|
NM_022124.6(CDH23):c.2572G>A (p.Val858Ile)
|
rs181275139
|
0.00023
|
|
NM_022124.6(CDH23):c.9524G>A (p.Arg3175His)
|
rs140884994
|
0.00023
|
|
NM_024649.5(BBS1):c.1194C>A (p.Ile398=)
|
rs200577824
|
0.00023
|
|
NM_025114.4(CEP290):c.2615C>T (p.Ser872Leu)
|
rs373341530
|
0.00023
|
|
NM_138694.4(PKHD1):c.935G>A (p.Arg312Gln)
|
rs140781915
|
0.00023
|
|
NM_174878.3(CLRN1):c.660C>T (p.Asp220=)
|
rs148752352
|
0.00023
|
|
NM_206933.4(USH2A):c.13099G>A (p.Val4367Ile)
|
rs146156360
|
0.00023
|
|
NM_206933.4(USH2A):c.5039A>G (p.Lys1680Arg)
|
rs150982499
|
0.00023
|
|
NM_206933.4(USH2A):c.6233C>G (p.Pro2078Arg)
|
rs150230450
|
0.00023
|
|
NM_000070.3(CAPN3):c.1813G>A (p.Val605Ile)
|
rs200759807
|
0.00022
|
|
NM_000070.3(CAPN3):c.589C>T (p.Arg197Cys)
|
rs199718635
|
0.00022
|
|
NM_000260.4(MYO7A):c.2208G>A (p.Leu736=)
|
rs373599360
|
0.00022
|
|
NM_000260.4(MYO7A):c.6546C>T (p.Cys2182=)
|
rs185748200
|
0.00022
|
|
NM_000277.3(PAH):c.782G>A (p.Arg261Gln)
|
rs5030849
|
0.00022
|
|
NM_000318.3(PEX2):c.698G>A (p.Ser233Asn)
|
rs200868032
|
0.00022
|
|
NM_000466.3(PEX1):c.1725G>A (p.Leu575=)
|
rs150667796
|
0.00022
|
|
NM_000466.3(PEX1):c.2640T>C (p.Tyr880=)
|
rs201719745
|
0.00022
|
|
NM_000492.4(CFTR):c.221G>A (p.Arg74Gln)
|
rs142540482
|
0.00022
|
|
NM_001039958.2(MESP2):c.1017C>T (p.Pro339=)
|
rs370227491
|
0.00022
|
|
NM_001127671.2(LIFR):c.3221A>G (p.Asp1074Gly)
|
rs147058538
|
0.00022
|
|
NM_001378454.1(ALMS1):c.12044G>A (p.Gly4015Asp)
|
rs200462734
|
0.00022
|
|
NM_001378454.1(ALMS1):c.1451G>A (p.Gly484Asp)
|
rs374663067
|
0.00022
|
|
NM_001378454.1(ALMS1):c.4228G>C (p.Ala1410Pro)
|
rs201517720
|
0.00022
|
|
NM_001384140.1(PCDH15):c.1649T>G (p.Val550Gly)
|
rs61735482
|
0.00022
|
|
NM_001384474.1(LOXHD1):c.1571G>A (p.Arg524His)
|
rs187658135
|
0.00022
|
|
NM_001384474.1(LOXHD1):c.1970+9G>A
|
rs532438706
|
0.00022
|
|
NM_001384474.1(LOXHD1):c.3874C>T (p.Leu1292Phe)
|
rs200792636
|
0.00022
|
|
NM_001384474.1(LOXHD1):c.6055G>A (p.Glu2019Lys)
|
rs373848470
|
0.00022
|
|
NM_002617.4(PEX10):c.611G>A (p.Arg204His)
|
rs199934621
|
0.00022
|
|
NM_006019.4(TCIRG1):c.2445C>T (p.Gly815=)
|
rs150788130
|
0.00022
|
|
NM_006432.5(NPC2):c.271G>A (p.Asp91Asn)
|
rs148607507
|
0.00022
|
|
NM_014363.6(SACS):c.1519A>G (p.Thr507Ala)
|
rs372022664
|
0.00022
|
|
NM_014363.6(SACS):c.6952G>A (p.Ala2318Thr)
|
rs147949881
|
0.00022
|
|
NM_022124.6(CDH23):c.8407G>A (p.Val2803Ile)
|
rs369697366
|
0.00022
|
|
NM_024301.5(FKRP):c.885C>T (p.Arg295=)
|
rs769005880
|
0.00022
|
|
NM_025114.4(CEP290):c.3787C>A (p.Leu1263Met)
|
rs370395204
|
0.00022
|
|
NM_025114.4(CEP290):c.6558T>G (p.His2186Gln)
|
rs772603458
|
0.00022
|
|
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly)
|
rs77778467
|
0.00022
|
|
NM_138694.4(PKHD1):c.5585C>T (p.Ser1862Leu)
|
rs147933501
|
0.00022
|
|
NM_138694.4(PKHD1):c.9478C>T (p.His3160Tyr)
|
rs147351244
|
0.00022
|
|
NM_152618.3(BBS12):c.1499T>C (p.Val500Ala)
|
rs145392789
|
0.00022
|
|
NM_201253.3(CRB1):c.1450A>G (p.Thr484Ala)
|
rs144029476
|
0.00022
|
|
NM_201253.3(CRB1):c.2033G>A (p.Ser678Asn)
|
rs139463596
|
0.00022
|
|
NM_201253.3(CRB1):c.4148G>A (p.Arg1383His)
|
rs200573274
|
0.00022
|
|
NM_206933.4(USH2A):c.10564A>G (p.Arg3522Gly)
|
rs147374057
|
0.00022
|
|
NM_206933.4(USH2A):c.7717C>T (p.Arg2573Cys)
|
rs140983855
|
0.00022
|
|
NM_206933.4(USH2A):c.8609C>T (p.Pro2870Leu)
|
rs200802261
|
0.00022
|
|
NR_003051.4(RMRP):n.125C>A
|
rs758130879
|
0.00022
|
|
NR_003051.4(RMRP):n.164C>T
|
rs550203343
|
0.00022
|
|
NM_000019.4(ACAT1):c.816G>T (p.Gln272His)
|
rs139120939
|
0.00021
|
|
NM_000243.3(MEFV):c.1795A>G (p.Asn599Asp)
|
rs104895210
|
0.00021
|
|
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr)
|
rs368341987
|
0.00021
|
|
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val)
|
rs199897298
|
0.00021
|
|
NM_000260.4(MYO7A):c.5005G>A (p.Val1669Ile)
|
rs374655803
|
0.00021
|
|
NM_000260.4(MYO7A):c.6247G>A (p.Ala2083Thr)
|
rs41298759
|
0.00021
|
|
NM_000271.5(NPC1):c.1480G>A (p.Val494Met)
|
rs199812609
|
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_000441.2(SLC26A4):c.1544+9C>T
|
rs368970459
|
0.00021
|
|
NM_000466.3(PEX1):c.1268A>G (p.Asn423Ser)
|
rs200857848
|
0.00021
|
|
NM_000466.3(PEX1):c.2045C>T (p.Ala682Val)
|
rs145350631
|
0.00021
|
|
NM_001122769.3(LCA5):c.1083A>G (p.Pro361=)
|
rs367733392
|
0.00021
|
|
NM_001130987.2(DYSF):c.1449G>A (p.Met483Ile)
|
rs146064054
|
0.00021
|
|
NM_001130987.2(DYSF):c.3267C>T (p.Tyr1089=)
|
rs150355624
|
0.00021
|
|
NM_001130987.2(DYSF):c.4106A>G (p.Asn1369Ser)
|
rs139529811
|
0.00021
|
|
NM_001130987.2(DYSF):c.6256A>G (p.Ile2086Val)
|
rs150834671
|
0.00021
|
|
NM_001130987.2(DYSF):c.628G>A (p.Gly210Arg)
|
rs143562525
|
0.00021
|
|
NM_001378454.1(ALMS1):c.11772T>C (p.Asp3924=)
|
rs201924342
|
0.00021
|
|
NM_001378454.1(ALMS1):c.3278C>T (p.Pro1093Leu)
|
rs766187468
|
0.00021
|
|
NM_001378454.1(ALMS1):c.759T>A (p.Pro253=)
|
rs201478438
|
0.00021
|
|
NM_001384140.1(PCDH15):c.4080G>A (p.Val1360=)
|
rs111033499
|
0.00021
|
|
NM_001384474.1(LOXHD1):c.1887C>T (p.Ser629=)
|
rs189550119
|
0.00021
|
|
NM_001384474.1(LOXHD1):c.1944C>T (p.Ser648=)
|
rs369039902
|
0.00021
|
|
NM_002454.3(MTRR):c.505G>A (p.Val169Met)
|
rs147742177
|
0.00021
|
|
NM_002485.5(NBN):c.786C>A (p.Phe262Leu)
|
rs372159380
|
0.00021
|
|
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)
|
rs80338948
|
0.00021
|
|
NM_006118.4(HAX1):c.15T>A (p.Asp5Glu)
|
rs201078819
|
0.00021
|
|
NM_006432.5(NPC2):c.292A>C (p.Asn98His)
|
rs142858704
|
0.00021
|
|
NM_022124.6(CDH23):c.2236G>A (p.Val746Ile)
|
rs550384315
|
0.00021
|
|
NM_022124.6(CDH23):c.2711C>T (p.Pro904Leu)
|
rs199894395
|
0.00021
|
|
NM_022124.6(CDH23):c.5056G>A (p.Asp1686Asn)
|
rs373836924
|
0.00021
|
|
NM_022124.6(CDH23):c.5236C>T (p.Arg1746Trp)
|
rs201763918
|
0.00021
|
|
NM_022124.6(CDH23):c.6421A>G (p.Arg2141Gly)
|
rs376414352
|
0.00021
|
|
NM_022124.6(CDH23):c.8901T>G (p.Arg2967=)
|
rs375720093
|
0.00021
|
|
NM_024649.5(BBS1):c.432+5A>G
|
rs373923317
|
0.00021
|
|
NM_025114.4(CEP290):c.7276G>A (p.Asp2426Asn)
|
rs200178519
|
0.00021
|
|
NM_138694.4(PKHD1):c.8141G>A (p.Arg2714Gln)
|
rs371665285
|
0.00021
|
|
NM_153676.4(USH1C):c.513C>T (p.Pro171=)
|
rs199739341
|
0.00021
|
|
NM_201253.3(CRB1):c.430T>G (p.Phe144Val)
|
rs62636262
|
0.00021
|
|
NM_206933.4(USH2A):c.5844T>C (p.Arg1948=)
|
rs147930567
|
0.00021
|
|
NR_003051.4(RMRP):n.59_60insA
|
rs1053360711
|
0.00021
|
|
NM_000019.4(ACAT1):c.979A>G (p.Ile327Val)
|
rs150038447
|
0.00020
|
|
NM_000260.4(MYO7A):c.19-9C>T
|
rs368452072
|
0.00020
|
|
NM_000277.3(PAH):c.143T>C (p.Leu48Ser)
|
rs5030841
|
0.00020
|
|
NM_000277.3(PAH):c.506G>A (p.Arg169His)
|
rs199475679
|
0.00020
|
|
NM_000382.3(ALDH3A2):c.1188T>G (p.Ser396=)
|
rs144496536
|
0.00020
|
|
NM_000441.2(SLC26A4):c.1491T>C (p.Gly497=)
|
rs150860491
|
0.00020
|
|
NM_000525.4(KCNJ11):c.568G>A (p.Ala190Thr)
|
rs77131926
|
0.00020
|
|
NM_001039958.2(MESP2):c.355C>T (p.Leu119=)
|
rs373605220
|
0.00020
|
|
NM_001122769.3(LCA5):c.338A>G (p.Asn113Ser)
|
rs181890907
|
0.00020
|
|
NM_001130987.2(DYSF):c.3695C>T (p.Pro1232Leu)
|
rs150942486
|
0.00020
|
|
NM_001378454.1(ALMS1):c.3092C>G (p.Thr1031Ser)
|
rs199922877
|
0.00020
|
|
NM_001692.4(ATP6V1B1):c.341G>A (p.Arg114Gln)
|
rs200269431
|
0.00020
|
|
NM_001692.4(ATP6V1B1):c.40G>A (p.Gly14Ser)
|
rs111306070
|
0.00020
|
|
NM_001692.4(ATP6V1B1):c.670G>A (p.Val224Ile)
|
rs202215158
|
0.00020
|
|
NM_006019.4(TCIRG1):c.1883G>A (p.Arg628Gln)
|
rs201661352
|
0.00020
|
|
NM_014363.6(SACS):c.7200T>C (p.Phe2400=)
|
rs148544893
|
0.00020
|
|
NM_014363.6(SACS):c.9275A>T (p.Tyr3092Phe)
|
rs139579036
|
0.00020
|
|
NM_022124.6(CDH23):c.3707G>A (p.Arg1236Gln)
|
rs186990940
|
0.00020
|
|
NM_022124.6(CDH23):c.4391C>T (p.Ala1464Val)
|
rs374362883
|
0.00020
|
|
NM_025114.4(CEP290):c.6392A>G (p.Glu2131Gly)
|
rs184323010
|
0.00020
|
|
NM_033056.4(PCDH15):c.5557A>C (p.Met1853Leu)
|
rs145903555
|
0.00020
|
|
NM_138694.4(PKHD1):c.6121G>A (p.Gly2041Ser)
|
rs199589074
|
0.00020
|
|
NM_152618.3(BBS12):c.1502C>T (p.Thr501Met)
|
rs138011813
|
0.00020
|
|
NM_174878.3(CLRN1):c.9C>A (p.Ser3Arg)
|
rs187218889
|
0.00020
|
|
NM_206933.4(USH2A):c.10062G>C (p.Val3354=)
|
rs200172376
|
0.00020
|
|
NM_206933.4(USH2A):c.10510C>G (p.Pro3504Ala)
|
rs200372118
|
0.00020
|
|
NM_206933.4(USH2A):c.7038C>T (p.His2346=)
|
rs145718407
|
0.00020
|
|
NM_000023.4(SGCA):c.37+10G>T
|
rs200626376
|
0.00019
|
|
NM_000023.4(SGCA):c.739G>A (p.Val247Met)
|
rs143570936
|
0.00019
|
|
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe)
|
rs150518260
|
0.00019
|
|
NM_000243.3(MEFV):c.1038C>G (p.Gly346=)
|
rs141090517
|
0.00019
|
|
NM_000260.4(MYO7A):c.1461C>T (p.Ile487=)
|
rs782195221
|
0.00019
|
|
NM_000260.4(MYO7A):c.1846C>T (p.Arg616Trp)
|
rs369195493
|
0.00019
|
|
NM_000260.4(MYO7A):c.3858G>A (p.Ala1286=)
|
rs372623270
|
0.00019
|
|
NM_000260.4(MYO7A):c.5172C>G (p.Pro1724=)
|
rs727505004
|
0.00019
|
|
NM_000277.3(PAH):c.399T>C (p.Asn133=)
|
rs145692106
|
0.00019
|
|
NM_000288.4(PEX7):c.188+3A>G
|
rs200234391
|
0.00019
|
|
NM_000441.2(SLC26A4):c.412G>T (p.Val138Phe)
|
rs111033199
|
0.00019
|
|
NM_000492.4(CFTR):c.31G>A (p.Val11Ile)
|
rs1800072
|
0.00019
|
|
NM_000492.4(CFTR):c.418C>T (p.Pro140Ser)
|
rs145900055
|
0.00019
|
|
NM_000784.4(CYP27A1):c.789C>T (p.Pro263=)
|
rs143600636
|
0.00019
|
|
NM_001017420.3(ESCO2):c.382G>A (p.Gly128Arg)
|
rs143828675
|
0.00019
|
|
NM_001122769.3(LCA5):c.1097T>C (p.Leu366Ser)
|
rs200988021
|
0.00019
|
|
NM_001130987.2(DYSF):c.1039G>A (p.Ala347Thr)
|
rs745746091
|
0.00019
|
|
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln)
|
rs115407852
|
0.00019
|
|
NM_001378454.1(ALMS1):c.11411G>C (p.Arg3804Thr)
|
rs201028172
|
0.00019
|
|
NM_001378454.1(ALMS1):c.3379C>T (p.Pro1127Ser)
|
rs182127619
|
0.00019
|
|
NM_001378454.1(ALMS1):c.4049A>G (p.His1350Arg)
|
rs373366352
|
0.00019
|
|
NM_001378454.1(ALMS1):c.6637G>T (p.Asp2213Tyr)
|
rs367656336
|
0.00019
|
|
NM_001378454.1(ALMS1):c.7288A>C (p.Ser2430Arg)
|
rs539112266
|
0.00019
|
|
NM_001378454.1(ALMS1):c.8416T>G (p.Phe2806Val)
|
rs763332859
|
0.00019
|
|
NM_001378454.1(ALMS1):c.8644C>T (p.Leu2882Phe)
|
rs373944325
|
0.00019
|
|
NM_001384140.1(PCDH15):c.1606G>C (p.Ala536Pro)
|
rs140516168
|
0.00019
|
|
NM_001692.4(ATP6V1B1):c.1332C>T (p.Leu444=)
|
rs372223196
|
0.00019
|
|
NM_002485.5(NBN):c.37+6G>A
|
rs540868733
|
0.00019
|
|
NM_002617.4(PEX10):c.220G>A (p.Val74Ile)
|
rs768438726
|
0.00019
|
|
NM_006019.4(TCIRG1):c.1674-1G>A
|
rs139617644
|
0.00019
|
|
NM_006019.4(TCIRG1):c.1743C>T (p.Phe581=)
|
rs148391697
|
0.00019
|
|
NM_007259.5(VPS45):c.514T>C (p.Cys172Arg)
|
rs191692092
|
0.00019
|
|
NM_014363.6(SACS):c.4757A>G (p.Asn1586Ser)
|
rs201558584
|
0.00019
|
|
NM_014363.6(SACS):c.7647T>G (p.Leu2549=)
|
rs186301471
|
0.00019
|
|
NM_014363.6(SACS):c.9333T>C (p.Asn3111=)
|
rs150532740
|
0.00019
|
|
NM_014363.6(SACS):c.99T>C (p.Asp33=)
|
rs775206528
|
0.00019
|
|
NM_022124.6(CDH23):c.4040C>T (p.Thr1347Met)
|
rs371125497
|
0.00019
|
|
NM_022124.6(CDH23):c.4542G>A (p.Gln1514=)
|
rs559831834
|
0.00019
|
|
NM_022124.6(CDH23):c.5647A>C (p.Asn1883His)
|
rs747488431
|
0.00019
|
|
NM_022124.6(CDH23):c.9326G>A (p.Arg3109His)
|
rs200188029
|
0.00019
|
|
NM_024649.5(BBS1):c.-3A>G
|
rs549210746
|
0.00019
|
|
NM_024649.5(BBS1):c.887T>C (p.Ile296Thr)
|
rs145094101
|
0.00019
|
|
NM_025114.4(CEP290):c.2446C>T (p.Arg816Cys)
|
rs374656545
|
0.00019
|
|
NM_025114.4(CEP290):c.7015C>T (p.Arg2339Trp)
|
rs200969981
|
0.00019
|
|
NM_025216.3(WNT10A):c.487C>T (p.Arg163Trp)
|
rs368280129
|
0.00019
|
|
NM_031885.5(BBS2):c.1927C>T (p.Arg643Cys)
|
rs147397090
|
0.00019
|
|
NM_031885.5(BBS2):c.725A>G (p.Asn242Ser)
|
rs199898889
|
0.00019
|
|
NM_138694.4(PKHD1):c.1717G>T (p.Gly573Trp)
|
rs143867809
|
0.00019
|
|
NM_138694.4(PKHD1):c.3984C>T (p.Val1328=)
|
rs182468850
|
0.00019
|
|
NM_138694.4(PKHD1):c.7736C>T (p.Ala2579Val)
|
rs78361537
|
0.00019
|
|
NM_153676.4(USH1C):c.2539G>A (p.Asp847Asn)
|
rs138123405
|
0.00019
|
|
NM_201253.3(CRB1):c.4060G>A (p.Ala1354Thr)
|
rs200469148
|
0.00019
|
|
NM_206933.4(USH2A):c.1539C>T (p.Thr513=)
|
rs199939890
|
0.00019
|
|
NM_206933.4(USH2A):c.6683T>A (p.Val2228Glu)
|
rs117461552
|
0.00019
|
|
NR_003051.4(RMRP):n.2G>A
|
rs773520232
|
0.00019
|
|
NM_000057.4(BLM):c.1927C>T (p.Arg643Cys)
|
rs373090621
|
0.00018
|
|
NM_000057.4(BLM):c.807C>T (p.Ser269=)
|
rs147850738
|
0.00018
|
|
NM_000070.3(CAPN3):c.1668C>T (p.Ile556=)
|
rs199884116
|
0.00018
|
|
NM_000070.3(CAPN3):c.2393C>A (p.Ala798Glu)
|
rs149095128
|
0.00018
|
|
NM_000370.3(TTPA):c.204+6C>T
|
rs574780098
|
0.00018
|
|
NM_000370.3(TTPA):c.760G>T (p.Asp254Tyr)
|
rs374606907
|
0.00018
|
|
NM_000441.2(SLC26A4):c.919-2A>G
|
rs111033313
|
0.00018
|
|
NM_000466.3(PEX1):c.3281A>G (p.Asp1094Gly)
|
rs539784253
|
0.00018
|
|
NM_000525.4(KCNJ11):c.354G>A (p.Ser118=)
|
rs140636367
|
0.00018
|
|
NM_001039958.2(MESP2):c.602G>A (p.Gly201Glu)
|
rs377023417
|
0.00018
|
|
NM_001130987.2(DYSF):c.2257C>A (p.His753Asn)
|
rs202123283
|
0.00018
|
|
NM_001130987.2(DYSF):c.3304C>T (p.Arg1102Cys)
|
rs764208388
|
0.00018
|
|
NM_001130987.2(DYSF):c.350C>T (p.Ser117Leu)
|
rs199677396
|
0.00018
|
|
NM_001130987.2(DYSF):c.5424C>T (p.Pro1808=)
|
rs137855767
|
0.00018
|
|
NM_001130987.2(DYSF):c.772G>A (p.Val258Met)
|
rs150345121
|
0.00018
|
|
NM_001378454.1(ALMS1):c.2893T>C (p.Tyr965His)
|
rs201180147
|
0.00018
|
|
NM_001378454.1(ALMS1):c.649A>G (p.Ile217Val)
|
rs200944504
|
0.00018
|
|
NM_001378454.1(ALMS1):c.74_75insGG (p.Glu27fs)
|
rs1553396120
|
0.00018
|
|
NM_001384140.1(PCDH15):c.2424G>C (p.Lys808Asn)
|
rs375855445
|
0.00018
|
|
NM_001384474.1(LOXHD1):c.6220T>C (p.Leu2074=)
|
rs185604776
|
0.00018
|
|
NM_001384474.1(LOXHD1):c.6243T>C (p.Cys2081=)
|
rs199645176
|
0.00018
|
|
NM_002454.3(MTRR):c.904-4C>G
|
rs370809675
|
0.00018
|
|
NM_002485.5(NBN):c.1999T>C (p.Ser667Pro)
|
rs587780091
|
0.00018
|
|
NM_002617.4(PEX10):c.27G>A (p.Pro9=)
|
rs559431523
|
0.00018
|
|
NM_006118.4(HAX1):c.829C>T (p.Arg277Trp)
|
rs138296453
|
0.00018
|
|
NM_007259.5(VPS45):c.625G>T (p.Val209Phe)
|
rs201955039
|
0.00018
|
|
NM_022124.6(CDH23):c.3431-6A>T
|
rs377614198
|
0.00018
|
|
NM_022124.6(CDH23):c.68-3C>T
|
rs142456469
|
0.00018
|
|
NM_022124.6(CDH23):c.9928C>T (p.Arg3310Cys)
|
rs200124827
|
0.00018
|
|
NM_024685.4(BBS10):c.2003A>G (p.Asn668Ser)
|
rs142140276
|
0.00018
|
|
NM_025114.4(CEP290):c.4360G>A (p.Glu1454Lys)
|
rs369902368
|
0.00018
|
|
NM_025216.3(WNT10A):c.534A>G (p.Gln178=)
|
rs746227205
|
0.00018
|
|
NM_033056.4(PCDH15):c.4772G>A (p.Arg1591Lys)
|
rs149384350
|
0.00018
|
|
NM_174878.3(CLRN1):c.368C>A (p.Ala123Asp)
|
rs374963432
|
0.00018
|
|
NM_206933.4(USH2A):c.14413G>A (p.Val4805Ile)
|
rs147532612
|
0.00018
|
|
NM_000023.4(SGCA):c.172G>C (p.Val58Leu)
|
rs141953249
|
0.00017
|
|
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter)
|
rs200389141
|
0.00017
|
|
NM_000243.3(MEFV):c.1245C>T (p.Val415=)
|
rs104895195
|
0.00017
|
|
NM_000271.5(NPC1):c.2524T>C (p.Phe842Leu)
|
rs190298665
|
0.00017
|
|
NM_000360.4(TH):c.391T>G (p.Phe131Val)
|
rs200536568
|
0.00017
|
|
NM_000360.4(TH):c.679G>A (p.Glu227Lys)
|
rs536382000
|
0.00017
|
|
NM_000441.2(SLC26A4):c.1040C>T (p.Ser347Leu)
|
rs150946659
|
0.00017
|
|
NM_000441.2(SLC26A4):c.919-18T>G
|
rs767147359
|
0.00017
|
|
NM_001130987.2(DYSF):c.3756T>C (p.Tyr1252=)
|
rs141720146
|
0.00017
|
|
NM_001130987.2(DYSF):c.4936A>G (p.Ile1646Val)
|
rs138357301
|
0.00017
|
|
NM_001378454.1(ALMS1):c.9389C>G (p.Pro3130Arg)
|
rs200586877
|
0.00017
|
|
NM_001384474.1(LOXHD1):c.1730T>G (p.Leu577Arg)
|
rs727503147
|
0.00017
|
|
NM_001384474.1(LOXHD1):c.5658C>T (p.Ser1886=)
|
rs571456548
|
0.00017
|
|
NM_001692.4(ATP6V1B1):c.517G>A (p.Val173Ile)
|
rs146293474
|
0.00017
|
|
NM_004004.6(GJB2):c.-23+1G>A
|
rs80338940
|
0.00017
|
|
NM_004004.6(GJB2):c.94C>T (p.Arg32Cys)
|
rs371024165
|
0.00017
|
|
NM_006019.4(TCIRG1):c.1227C>T (p.His409=)
|
rs145080707
|
0.00017
|
|
NM_014363.6(SACS):c.11928T>C (p.Ser3976=)
|
rs145680118
|
0.00017
|
|
NM_014363.6(SACS):c.2492A>G (p.Glu831Gly)
|
rs375968367
|
0.00017
|
|
NM_014363.6(SACS):c.6084A>T (p.Glu2028Asp)
|
rs149018756
|
0.00017
|
|
NM_014363.6(SACS):c.6640C>T (p.Arg2214Cys)
|
rs138379074
|
0.00017
|
|
NM_022124.6(CDH23):c.6426A>G (p.Leu2142=)
|
rs371932558
|
0.00017
|
|
NM_025114.4(CEP290):c.1918T>C (p.Leu640=)
|
rs541138095
|
0.00017
|
|
NM_138694.4(PKHD1):c.2532C>T (p.Tyr844=)
|
rs150202544
|
0.00017
|
|
NM_138694.4(PKHD1):c.7533A>G (p.Ser2511=)
|
rs200679577
|
0.00017
|
|
NM_152443.3(RDH12):c.317G>A (p.Arg106Gln)
|
rs150812168
|
0.00017
|
|
NM_152443.3(RDH12):c.577C>T (p.Arg193Cys)
|
rs148629905
|
0.00017
|
|
NM_201253.3(CRB1):c.2225T>C (p.Phe742Ser)
|
rs140494140
|
0.00017
|
|
NR_003051.4(RMRP):n.92A>C
|
rs752723025
|
0.00017
|
|
NM_000023.4(SGCA):c.929A>G (p.Tyr310Cys)
|
rs145252144
|
0.00016
|
|
NM_000070.3(CAPN3):c.1466G>A (p.Arg489Gln)
|
rs147764579
|
0.00016
|
|
NM_000231.3(SGCG):c.196-3C>T
|
rs765273430
|
0.00016
|
|
NM_000231.3(SGCG):c.596G>A (p.Arg199Gln)
|
rs200191311
|
0.00016
|
|
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys)
|
rs104894423
|
0.00016
|
|
NM_000243.3(MEFV):c.1016C>T (p.Ser339Phe)
|
rs104895157
|
0.00016
|
|
NM_000260.4(MYO7A):c.1635T>C (p.His545=)
|
rs376286438
|
0.00016
|
|
NM_000260.4(MYO7A):c.5688G>A (p.Gln1896=)
|
rs570316231
|
0.00016
|
|
NM_000260.4(MYO7A):c.6309C>T (p.Leu2103=)
|
rs371789765
|
0.00016
|
|
NM_000271.5(NPC1):c.233G>A (p.Arg78Gln)
|
rs373274825
|
0.00016
|
|
NM_000271.5(NPC1):c.3732C>T (p.Leu1244=)
|
rs1621962
|
0.00016
|
|
NM_000287.4(PEX6):c.1081A>G (p.Thr361Ala)
|
rs146025917
|
0.00016
|
|
NM_000287.4(PEX6):c.2183C>T (p.Pro728Leu)
|
rs142899308
|
0.00016
|
|
NM_000287.4(PEX6):c.617G>A (p.Gly206Glu)
|
rs139093654
|
0.00016
|
|
NM_000360.4(TH):c.585G>A (p.Ser195=)
|
rs376615793
|
0.00016
|
|
NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly)
|
rs111033244
|
0.00016
|
|
NM_000441.2(SLC26A4):c.2089+9A>G
|
rs369504960
|
0.00016
|
|
NM_000441.2(SLC26A4):c.225C>G (p.Leu75=)
|
rs187447337
|
0.00016
|
|
NM_000466.3(PEX1):c.2200G>A (p.Val734Ile)
|
rs141510219
|
0.00016
|
|
NM_000466.3(PEX1):c.627G>A (p.Met209Ile)
|
rs200752969
|
0.00016
|
|
NM_000492.4(CFTR):c.-4G>C
|
rs369326781
|
0.00016
|
|
NM_000784.4(CYP27A1):c.1017+5G>A
|
rs370304209
|
0.00016
|
|
NM_000784.4(CYP27A1):c.1184+9G>T
|
rs200457116
|
0.00016
|
|
NM_000784.4(CYP27A1):c.120C>T (p.Ala40=)
|
rs150389057
|
0.00016
|
|
NM_000784.4(CYP27A1):c.1343G>A (p.Arg448His)
|
rs370868184
|
0.00016
|
|
NM_000784.4(CYP27A1):c.504A>T (p.Pro168=)
|
rs142623022
|
0.00016
|
|
NM_001039958.2(MESP2):c.183C>T (p.Ser61=)
|
rs753168674
|
0.00016
|
|
NM_001127671.2(LIFR):c.774T>C (p.Asp258=)
|
rs761633332
|
0.00016
|
|
NM_001130987.2(DYSF):c.1364G>C (p.Ser455Thr)
|
rs371593605
|
0.00016
|
|
NM_001130987.2(DYSF):c.225G>A (p.Thr75=)
|
rs200957354
|
0.00016
|
|
NM_001130987.2(DYSF):c.2589C>T (p.Gly863=)
|
rs551942312
|
0.00016
|
|
NM_001130987.2(DYSF):c.3778C>T (p.Arg1260Cys)
|
rs369170272
|
0.00016
|
|
NM_001130987.2(DYSF):c.3852G>A (p.Pro1284=)
|
rs139983909
|
0.00016
|
|
NM_001130987.2(DYSF):c.5102C>T (p.Thr1701Met)
|
rs143059463
|
0.00016
|
|
NM_001130987.2(DYSF):c.5362C>T (p.Arg1788Cys)
|
rs545645581
|
0.00016
|
|
NM_001378454.1(ALMS1):c.11328C>T (p.His3776=)
|
rs45596541
|
0.00016
|
|
NM_001384140.1(PCDH15):c.3127C>T (p.Pro1043Ser)
|
rs189284385
|
0.00016
|
|
NM_001384140.1(PCDH15):c.3450C>A (p.Ile1150=)
|
rs146374856
|
0.00016
|
|
NM_001384474.1(LOXHD1):c.5985C>T (p.Asp1995=)
|
rs559560065
|
0.00016
|
|
NM_001384474.1(LOXHD1):c.6462C>G (p.Val2154=)
|
rs141737883
|
0.00016
|
|
NM_001692.4(ATP6V1B1):c.368-6C>T
|
rs200038589
|
0.00016
|
|
NM_002485.5(NBN):c.1343A>T (p.Gln448Leu)
|
rs146403088
|
0.00016
|
|
NM_002485.5(NBN):c.2202A>G (p.Ala734=)
|
rs200452212
|
0.00016
|
|
NM_003384.3(VRK1):c.216+8A>G
|
rs369680885
|
0.00016
|
|
NM_003384.3(VRK1):c.906C>T (p.Tyr302=)
|
rs528346065
|
0.00016
|
|
NM_004004.6(GJB2):c.355G>A (p.Glu119Lys)
|
rs150529554
|
0.00016
|
|
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser)
|
rs111033294
|
0.00016
|
|
NM_006019.4(TCIRG1):c.2414+7G>A
|
rs200879286
|
0.00016
|
|
NM_006118.4(HAX1):c.593C>T (p.Pro198Leu)
|
rs146152769
|
0.00016
|
|
NM_014363.6(SACS):c.11703T>C (p.Asn3901=)
|
rs146154135
|
0.00016
|
|
NM_014363.6(SACS):c.13272C>T (p.Ala4424=)
|
rs567495567
|
0.00016
|
|
NM_014363.6(SACS):c.3752T>C (p.Ile1251Thr)
|
rs76872266
|
0.00016
|
|
NM_014363.6(SACS):c.4302A>G (p.Leu1434=)
|
rs34559250
|
0.00016
|
|
NM_022124.6(CDH23):c.1581G>T (p.Gln527His)
|
rs552906420
|
0.00016
|
|
NM_022124.6(CDH23):c.2926A>G (p.Ser976Gly)
|
rs372401651
|
0.00016
|
|
NM_022124.6(CDH23):c.4000C>T (p.Arg1334Trp)
|
rs373276722
|
0.00016
|
|
NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln)
|
rs111033270
|
0.00016
|
|
NM_022124.6(CDH23):c.8729T>C (p.Met2910Thr)
|
rs374171450
|
0.00016
|
|
NM_024301.5(FKRP):c.1136G>A (p.Arg379Gln)
|
rs140217866
|
0.00016
|
|
NM_024649.5(BBS1):c.1109C>T (p.Pro370Leu)
|
rs141255069
|
0.00016
|
|
NM_025114.4(CEP290):c.3955T>C (p.Leu1319=)
|
rs182851622
|
0.00016
|
|
NM_025114.4(CEP290):c.4555A>T (p.Ile1519Leu)
|
rs200817579
|
0.00016
|
|
NM_025114.4(CEP290):c.523C>A (p.Gln175Lys)
|
rs202159966
|
0.00016
|
|
NM_025216.3(WNT10A):c.1017C>T (p.Phe339=)
|
rs531326479
|
0.00016
|
|
NM_025216.3(WNT10A):c.216G>T (p.Met72Ile)
|
rs373607885
|
0.00016
|
|
NM_033056.4(PCDH15):c.5048T>G (p.Leu1683Arg)
|
rs727504812
|
0.00016
|
|
NM_138694.4(PKHD1):c.10973T>C (p.Ile3658Thr)
|
rs142536551
|
0.00016
|
|
NM_138694.4(PKHD1):c.2781A>G (p.Gln927=)
|
rs200511208
|
0.00016
|
|
NM_138694.4(PKHD1):c.3048T>C (p.Asn1016=)
|
rs138989655
|
0.00016
|
|
NM_138694.4(PKHD1):c.4447G>A (p.Glu1483Lys)
|
rs146745096
|
0.00016
|
|
NM_138694.4(PKHD1):c.633G>A (p.Gly211=)
|
rs144025892
|
0.00016
|
|
NM_138694.4(PKHD1):c.9662C>T (p.Pro3221Leu)
|
rs145141656
|
0.00016
|
|
NM_152618.3(BBS12):c.2114C>T (p.Thr705Met)
|
rs372102223
|
0.00016
|
|
NM_153676.4(USH1C):c.2260C>T (p.Arg754Trp)
|
rs143803480
|
0.00016
|
|
NM_153676.4(USH1C):c.2280+6del
|
rs776356060
|
0.00016
|
|
NM_153717.3(EVC):c.1536C>T (p.Ala512=)
|
rs368554773
|
0.00016
|
|
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys)
|
rs111033258
|
0.00016
|
|
NM_174878.3(CLRN1):c.218A>G (p.Gln73Arg)
|
rs201008540
|
0.00016
|
|
NM_174878.3(CLRN1):c.226T>C (p.Leu76=)
|
rs139829306
|
0.00016
|
|
NM_206933.4(USH2A):c.11734G>A (p.Glu3912Lys)
|
rs142617606
|
0.00016
|
|
NM_206933.4(USH2A):c.12399G>A (p.Glu4133=)
|
rs150406015
|
0.00016
|
|
NM_206933.4(USH2A):c.8552A>C (p.Asn2851Thr)
|
rs577389392
|
0.00016
|
|
NM_206933.4(USH2A):c.9037G>A (p.Ala3013Thr)
|
rs149813671
|
0.00016
|
|
NM_206933.4(USH2A):c.9604C>G (p.Pro3202Ala)
|
rs113786363
|
0.00016
|
|
NM_206933.4(USH2A):c.9688G>A (p.Ala3230Thr)
|
rs528342000
|
0.00016
|
|
NM_206933.4(USH2A):c.9871G>A (p.Gly3291Ser)
|
rs138543813
|
0.00016
|
|
NR_003051.4(RMRP):n.150C>T
|
rs977992022
|
0.00016
|
|
NR_003051.4(RMRP):n.160A>G
|
rs535595484
|
0.00016
|
|
NR_003051.4(RMRP):n.6C>T
|
rs772443941
|
0.00016
|
|
NM_000057.4(BLM):c.274A>G (p.Asn92Asp)
|
rs200690226
|
0.00015
|
|
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp)
|
rs141656719
|
0.00015
|
|
NM_000070.3(CAPN3):c.721A>G (p.Ile241Val)
|
rs141948992
|
0.00015
|
|
NM_000243.3(MEFV):c.1518C>T (p.Ile506=)
|
rs104895099
|
0.00015
|
|
NM_000260.4(MYO7A):c.3404C>A (p.Ser1135Tyr)
|
rs376688581
|
0.00015
|
|
NM_000260.4(MYO7A):c.4471G>A (p.Val1491Met)
|
rs369768947
|
0.00015
|
|
NM_000260.4(MYO7A):c.5087G>A (p.Arg1696Gln)
|
rs368862510
|
0.00015
|
|
NM_000271.5(NPC1):c.2088T>C (p.Ala696=)
|
rs377179697
|
0.00015
|
|
NM_000271.5(NPC1):c.2501T>C (p.Met834Thr)
|
rs373435883
|
0.00015
|
|
NM_000287.4(PEX6):c.543G>A (p.Val181=)
|
rs368560418
|
0.00015
|
|
NM_000382.3(ALDH3A2):c.989A>G (p.Glu330Gly)
|
rs147200808
|
0.00015
|
|
NM_000441.2(SLC26A4):c.1995A>C (p.Ile665=)
|
rs185493402
|
0.00015
|
|
NM_000466.3(PEX1):c.2558T>C (p.Met853Thr)
|
rs143283146
|
0.00015
|
|
NM_001378454.1(ALMS1):c.5276A>G (p.Tyr1759Cys)
|
rs200293447
|
0.00015
|
|
NM_001378454.1(ALMS1):c.6145T>A (p.Ser2049Thr)
|
rs17848882
|
0.00015
|
|
NM_001378454.1(ALMS1):c.6812A>G (p.Asn2271Ser)
|
rs111659663
|
0.00015
|
|
NM_001378454.1(ALMS1):c.8108C>T (p.Pro2703Leu)
|
rs199604280
|
0.00015
|
|
NM_001378454.1(ALMS1):c.9145A>G (p.Ile3049Val)
|
rs202228570
|
0.00015
|
|
NM_001384474.1(LOXHD1):c.3951C>A (p.Val1317=)
|
rs779507390
|
0.00015
|
|
NM_001384474.1(LOXHD1):c.6777G>A (p.Lys2259=)
|
rs764655234
|
0.00015
|
|
NM_004004.6(GJB2):c.670A>C (p.Lys224Gln)
|
rs111033194
|
0.00015
|
|
NM_006019.4(TCIRG1):c.942G>A (p.Thr314=)
|
rs764846667
|
0.00015
|
|
NM_024301.5(FKRP):c.1405C>T (p.Leu469=)
|
rs143129484
|
0.00015
|
|
NM_138694.4(PKHD1):c.10888C>T (p.His3630Tyr)
|
rs145219220
|
0.00015
|
|
NM_138694.4(PKHD1):c.12110T>C (p.Leu4037Pro)
|
rs199900211
|
0.00015
|
|
NM_138694.4(PKHD1):c.4854C>T (p.Ile1618=)
|
rs140674740
|
0.00015
|
|
NM_152443.3(RDH12):c.384A>G (p.Val128=)
|
rs139881477
|
0.00015
|
|
NM_153717.3(EVC):c.105C>A (p.Gly35=)
|
rs745558003
|
0.00015
|
|
NM_201253.3(CRB1):c.2538A>T (p.Gly846=)
|
rs139040133
|
0.00015
|
|
NM_206933.4(USH2A):c.1590A>T (p.Thr530=)
|
rs144343161
|
0.00015
|
|
NM_206933.4(USH2A):c.2460T>C (p.Asn820=)
|
rs781373128
|
0.00015
|
|
NM_206933.4(USH2A):c.5299-10T>C
|
rs375279569
|
0.00015
|
|
NM_206933.4(USH2A):c.5330G>A (p.Arg1777Gln)
|
rs541275063
|
0.00015
|
|
NM_206933.4(USH2A):c.9008T>C (p.Val3003Ala)
|
rs138574386
|
0.00015
|
|
NR_003051.4(RMRP):n.181dup
|
rs940080676
|
0.00015
|
|
NR_003051.4(RMRP):n.240C>T
|
rs749667892
|
0.00015
|
|
NM_000019.4(ACAT1):c.858G>A (p.Leu286=)
|
rs143892373
|
0.00014
|
|
NM_000057.4(BLM):c.1702G>C (p.Glu568Gln)
|
rs1360373872
|
0.00014
|
|
NM_000057.4(BLM):c.842A>C (p.His281Pro)
|
rs202042636
|
0.00014
|
|
NM_000070.3(CAPN3):c.2306G>A (p.Arg769Gln)
|
rs80338802
|
0.00014
|
|
NM_000231.3(SGCG):c.438C>T (p.Asp146=)
|
rs144497243
|
0.00014
|
|
NM_000231.3(SGCG):c.803C>T (p.Pro268Leu)
|
rs143110015
|
0.00014
|
|
NM_000243.3(MEFV):c.1528G>A (p.Asp510Asn)
|
rs200557537
|
0.00014
|
|
NM_000243.3(MEFV):c.331G>A (p.Gly111Arg)
|
rs112739451
|
0.00014
|
|
NM_000260.4(MYO7A):c.1801G>A (p.Ala601Thr)
|
rs782481491
|
0.00014
|
|
NM_000271.5(NPC1):c.544G>A (p.Asp182Asn)
|
rs201021988
|
0.00014
|
|
NM_000277.3(PAH):c.1042C>G (p.Leu348Val)
|
rs62516092
|
0.00014
|
|
NM_000329.3(RPE65):c.11+5G>A
|
rs61751276
|
0.00014
|
|
NM_000360.4(TH):c.605G>A (p.Arg202His)
|
rs80338892
|
0.00014
|
|
NM_000382.3(ALDH3A2):c.639A>G (p.Pro213=)
|
rs140649688
|
0.00014
|
|
NM_000466.3(PEX1):c.1249G>A (p.Asp417Asn)
|
rs143273433
|
0.00014
|
|
NM_000466.3(PEX1):c.159C>T (p.His53=)
|
rs200950057
|
0.00014
|
|
NM_000784.4(CYP27A1):c.215T>A (p.Leu72Gln)
|
rs138189735
|
0.00014
|
|
NM_001017420.3(ESCO2):c.147C>G (p.Cys49Trp)
|
rs201989984
|
0.00014
|
|
NM_001017420.3(ESCO2):c.1674-4T>C
|
rs750703352
|
0.00014
|
|
NM_001122769.3(LCA5):c.1746C>T (p.Asn582=)
|
rs183011135
|
0.00014
|
|
NM_001122769.3(LCA5):c.222A>T (p.Pro74=)
|
rs148386543
|
0.00014
|
|
NM_001130987.2(DYSF):c.2622G>A (p.Leu874=)
|
rs191337920
|
0.00014
|
|
NM_001130987.2(DYSF):c.2855C>T (p.Pro952Leu)
|
rs150717638
|
0.00014
|
|
NM_001130987.2(DYSF):c.3175C>T (p.Arg1059Cys)
|
rs144598063
|
0.00014
|
|
NM_001130987.2(DYSF):c.4389C>T (p.Asp1463=)
|
rs61746816
|
0.00014
|
|
NM_001130987.2(DYSF):c.5010C>T (p.Phe1670=)
|
rs151276652
|
0.00014
|
|
NM_001130987.2(DYSF):c.5276G>A (p.Arg1759His)
|
rs147678255
|
0.00014
|
|
NM_001130987.2(DYSF):c.5488C>T (p.Pro1830Ser)
|
rs145832952
|
0.00014
|
|
NM_001130987.2(DYSF):c.854G>A (p.Arg285Gln)
|
rs140002194
|
0.00014
|
|
NM_001378454.1(ALMS1):c.10533G>T (p.Trp3511Cys)
|
rs761712682
|
0.00014
|
|
NM_001378454.1(ALMS1):c.11953A>G (p.Ile3985Val)
|
rs201728850
|
0.00014
|
|
NM_001378454.1(ALMS1):c.331C>G (p.Pro111Ala)
|
rs368354870
|
0.00014
|
|
NM_001378454.1(ALMS1):c.356A>G (p.Gln119Arg)
|
rs371516347
|
0.00014
|
|
NM_001378454.1(ALMS1):c.4259G>T (p.Gly1420Val)
|
rs1445492577
|
0.00014
|
|
NM_001378454.1(ALMS1):c.5466T>A (p.His1822Gln)
|
rs201677365
|
0.00014
|
|
NM_001384140.1(PCDH15):c.1494A>G (p.Gln498=)
|
rs145141405
|
0.00014
|
|
NM_001384140.1(PCDH15):c.3673A>G (p.Thr1225Ala)
|
rs61731381
|
0.00014
|
|
NM_001384474.1(LOXHD1):c.3166G>A (p.Glu1056Lys)
|
rs200260213
|
0.00014
|
|
NM_001384474.1(LOXHD1):c.854A>G (p.Asp285Gly)
|
rs1354495647
|
0.00014
|
|
NM_001692.4(ATP6V1B1):c.1382C>T (p.Pro461Leu)
|
rs371863168
|
0.00014
|
|
NM_002485.5(NBN):c.266G>C (p.Arg89Pro)
|
rs747315554
|
0.00014
|
|
NM_002485.5(NBN):c.456G>A (p.Met152Ile)
|
rs201816949
|
0.00014
|
|
NM_002617.4(PEX10):c.275G>A (p.Arg92His)
|
rs375649043
|
0.00014
|
|
NM_002617.4(PEX10):c.425G>A (p.Arg142Gln)
|
rs138843050
|
0.00014
|
|
NM_002617.4(PEX10):c.967C>T (p.Arg323Trp)
|
rs148903253
|
0.00014
|
|
NM_004004.6(GJB2):c.110T>C (p.Val37Ala)
|
rs141774369
|
0.00014
|
|
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn)
|
rs111033188
|
0.00014
|
|
NM_004004.6(GJB2):c.511G>A (p.Ala171Thr)
|
rs201004645
|
0.00014
|
|
NM_006019.4(TCIRG1):c.118-6C>T
|
rs375317575
|
0.00014
|
|
NM_007259.5(VPS45):c.1442G>A (p.Arg481Lys)
|
rs151292369
|
0.00014
|
|
NM_007259.5(VPS45):c.1664G>A (p.Arg555Gln)
|
rs142968690
|
0.00014
|
|
NM_007259.5(VPS45):c.614G>A (p.Arg205His)
|
rs146660821
|
0.00014
|
|
NM_014363.6(SACS):c.9299C>A (p.Ser3100Tyr)
|
rs150615169
|
0.00014
|
|
NM_022124.6(CDH23):c.256G>A (p.Val86Met)
|
rs200085829
|
0.00014
|
|
NM_022124.6(CDH23):c.2891G>A (p.Arg964Gln)
|
rs376560330
|
0.00014
|
|
NM_022124.6(CDH23):c.2940G>A (p.Thr980=)
|
rs373631099
|
0.00014
|
|
NM_022124.6(CDH23):c.3452G>A (p.Arg1151Gln)
|
rs370944611
|
0.00014
|
|
NM_022124.6(CDH23):c.3869C>T (p.Pro1290Leu)
|
rs377222292
|
0.00014
|
|
NM_022124.6(CDH23):c.4405A>G (p.Ile1469Val)
|
rs200635365
|
0.00014
|
|
NM_022124.6(CDH23):c.4498T>A (p.Ser1500Thr)
|
rs375641853
|
0.00014
|
|
NM_022124.6(CDH23):c.4864G>A (p.Val1622Met)
|
rs199754104
|
0.00014
|
|
NM_024649.5(BBS1):c.200G>A (p.Arg67His)
|
rs145718265
|
0.00014
|
|
NM_024685.4(BBS10):c.372T>A (p.Ser124=)
|
rs143366878
|
0.00014
|
|
NM_025114.4(CEP290):c.3135A>G (p.Lys1045=)
|
rs370622537
|
0.00014
|
|
NM_025114.4(CEP290):c.3442C>G (p.Leu1148Val)
|
rs372190684
|
0.00014
|
|
NM_025114.4(CEP290):c.7075A>C (p.Ile2359Leu)
|
rs183387506
|
0.00014
|
|
NM_025216.3(WNT10A):c.775C>A (p.Arg259=)
|
rs576855744
|
0.00014
|
|
NM_138694.4(PKHD1):c.1848A>T (p.Ala616=)
|
rs776570716
|
0.00014
|
|
NM_138694.4(PKHD1):c.5093A>G (p.Asn1698Ser)
|
rs148108992
|
0.00014
|
|
NM_138694.4(PKHD1):c.812T>A (p.Leu271His)
|
rs750887164
|
0.00014
|
|
NM_138694.4(PKHD1):c.977-7C>G
|
rs1054774956
|
0.00014
|
|
NM_138694.4(PKHD1):c.9913A>G (p.Ile3305Val)
|
rs145745489
|
0.00014
|
|
NM_152443.3(RDH12):c.662C>T (p.Thr221Ile)
|
rs769317754
|
0.00014
|
|
NM_152618.3(BBS12):c.787T>C (p.Tyr263His)
|
rs150040166
|
0.00014
|
|
NM_153676.4(USH1C):c.2194A>G (p.Lys732Glu)
|
rs148168494
|
0.00014
|
|
NM_153676.4(USH1C):c.790G>A (p.Val264Ile)
|
rs79875849
|
0.00014
|
|
NM_153717.3(EVC):c.1777G>A (p.Val593Met)
|
rs150535483
|
0.00014
|
|
NM_153717.3(EVC):c.2098-10T>C
|
rs774109576
|
0.00014
|
|
NM_201253.3(CRB1):c.664G>A (p.Glu222Lys)
|
rs114846212
|
0.00014
|
|
NM_206933.4(USH2A):c.12790G>A (p.Glu4264Lys)
|
rs200792578
|
0.00014
|
|
NM_206933.4(USH2A):c.127G>A (p.Val43Met)
|
rs147421006
|
0.00014
|
|
NM_206933.4(USH2A):c.13477C>T (p.Arg4493Cys)
|
rs144543286
|
0.00014
|
|
NM_206933.4(USH2A):c.1898C>T (p.Ser633Leu)
|
rs373190681
|
0.00014
|
|
NM_206933.4(USH2A):c.3252G>T (p.Trp1084Cys)
|
rs200289497
|
0.00014
|
|
NM_206933.4(USH2A):c.3375T>G (p.Ile1125Met)
|
rs143319658
|
0.00014
|
|
NM_206933.4(USH2A):c.7291C>T (p.Pro2431Ser)
|
rs148136966
|
0.00014
|
|
NM_206933.4(USH2A):c.9992T>A (p.Met3331Lys)
|
rs141452179
|
0.00014
|
|
NR_003051.3(RMRP):n.-18C>G
|
rs775303012
|
0.00014
|
|
NM_000023.4(SGCA):c.408C>T (p.Ala136=)
|
rs143551687
|
0.00013
|
|
NM_000023.4(SGCA):c.819G>T (p.Pro273=)
|
rs35972733
|
0.00013
|
|
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys)
|
rs137852623
|
0.00013
|
|
NM_000057.4(BLM):c.3044C>T (p.Thr1015Ile)
|
rs202196488
|
0.00013
|
|
NM_000057.4(BLM):c.3828G>A (p.Ala1276=)
|
rs369383272
|
0.00013
|
|
NM_000057.4(BLM):c.4113G>A (p.Thr1371=)
|
rs61754135
|
0.00013
|
|
NM_000070.3(CAPN3):c.1319G>A (p.Arg440Gln)
|
rs376107921
|
0.00013
|
|
NM_000070.3(CAPN3):c.1774C>T (p.Arg592Trp)
|
rs373512834
|
0.00013
|
|
NM_000070.3(CAPN3):c.2071G>A (p.Gly691Arg)
|
rs140425651
|
0.00013
|
|
NM_000070.3(CAPN3):c.897C>A (p.Leu299=)
|
rs370313391
|
0.00013
|
|
NM_000232.5(SGCB):c.392G>A (p.Arg131Gln)
|
rs201439705
|
0.00013
|
|
NM_000260.4(MYO7A):c.3384G>C (p.Lys1128Asn)
|
rs372050452
|
0.00013
|
|
NM_000287.4(PEX6):c.2534T>C (p.Ile845Thr)
|
rs61753226
|
0.00013
|
|
NM_000329.3(RPE65):c.298A>C (p.Ile100Leu)
|
rs142626873
|
0.00013
|
|
NM_000329.3(RPE65):c.370C>T (p.Arg124Ter)
|
rs61752877
|
0.00013
|
|
NM_000360.4(TH):c.*9C>T
|
rs762091461
|
0.00013
|
|
NM_000466.3(PEX1):c.891A>G (p.Ile297Met)
|
rs143206380
|
0.00013
|
|
NM_000492.4(CFTR):c.4184G>T (p.Cys1395Phe)
|
rs1330281974
|
0.00013
|
|
NM_001039958.2(MESP2):c.306C>A (p.His102Gln)
|
rs77473319
|
0.00013
|
|
NM_001127671.2(LIFR):c.2671-10T>G
|
rs201596849
|
0.00013
|
|
NM_001130987.2(DYSF):c.127G>A (p.Val43Met)
|
rs374203339
|
0.00013
|
|
NM_001130987.2(DYSF):c.2387G>A (p.Arg796His)
|
rs185891286
|
0.00013
|
|
NM_001130987.2(DYSF):c.3139C>G (p.Pro1047Ala)
|
rs1358370392
|
0.00013
|
|
NM_001130987.2(DYSF):c.3541G>A (p.Asp1181Asn)
|
rs139194093
|
0.00013
|
|
NM_001130987.2(DYSF):c.5095G>A (p.Gly1699Ser)
|
rs375068646
|
0.00013
|
|
NM_001130987.2(DYSF):c.5785-8C>T
|
rs201191038
|
0.00013
|
|
NM_001378454.1(ALMS1):c.10218C>T (p.Ser3406=)
|
rs754938453
|
0.00013
|
|
NM_001378454.1(ALMS1):c.11213G>A (p.Arg3738Gln)
|
rs200378498
|
0.00013
|
|
NM_001378454.1(ALMS1):c.12251G>T (p.Arg4084Met)
|
rs375314465
|
0.00013
|
|
NM_001378454.1(ALMS1):c.601C>G (p.Gln201Glu)
|
rs376989302
|
0.00013
|
|
NM_001378454.1(ALMS1):c.6361G>C (p.Val2121Leu)
|
rs200368564
|
0.00013
|
|
NM_001378454.1(ALMS1):c.9880G>C (p.Asp3294His)
|
rs200441305
|
0.00013
|
|
NM_001384140.1(PCDH15):c.1900G>A (p.Val634Ile)
|
rs146199636
|
0.00013
|
|
NM_001384140.1(PCDH15):c.2102C>T (p.Ala701Val)
|
rs199537178
|
0.00013
|
|
NM_001384140.1(PCDH15):c.8G>A (p.Arg3Gln)
|
rs372085398
|
0.00013
|
|
NM_001384474.1(LOXHD1):c.287G>A (p.Arg96Gln)
|
rs376467400
|
0.00013
|
|
NM_001384474.1(LOXHD1):c.3852C>T (p.Asp1284=)
|
rs487706
|
0.00013
|
|
NM_001384474.1(LOXHD1):c.4554C>T (p.Ala1518=)
|
rs376705239
|
0.00013
|
|
NM_001384474.1(LOXHD1):c.5390A>G (p.Lys1797Arg)
|
rs368286192
|
0.00013
|
|
NM_001384474.1(LOXHD1):c.5584C>T (p.Arg1862Trp)
|
rs201994383
|
0.00013
|
|
NM_001692.4(ATP6V1B1):c.4G>T (p.Ala2Ser)
|
rs142881463
|
0.00013
|
|
NM_002454.3(MTRR):c.138A>G (p.Leu46=)
|
rs200682655
|
0.00013
|
|
NM_002485.5(NBN):c.1124+6G>T
|
rs375862750
|
0.00013
|
|
NM_003494.4(DYSF):c.1508C>T (p.Ser503Leu)
|
rs144931729
|
0.00013
|
|
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter)
|
rs104894398
|
0.00013
|
|
NM_014363.6(SACS):c.9399A>G (p.Lys3133=)
|
rs762665640
|
0.00013
|
|
NM_015702.3(MMADHC):c.10-9C>G
|
rs376032730
|
0.00013
|
|
NM_022124.6(CDH23):c.1803C>G (p.Val601=)
|
rs201024982
|
0.00013
|
|
NM_022124.6(CDH23):c.3220+5G>A
|
rs977262704
|
0.00013
|
|
NM_022124.6(CDH23):c.5055C>T (p.Ile1685=)
|
rs377269771
|
0.00013
|
|
NM_022124.6(CDH23):c.5187G>A (p.Thr1729=)
|
rs376386945
|
0.00013
|
|
NM_022124.6(CDH23):c.5722G>A (p.Val1908Ile)
|
rs368828743
|
0.00013
|
|
NM_022124.6(CDH23):c.6547G>A (p.Val2183Met)
|
rs370794439
|
0.00013
|
|
NM_022124.6(CDH23):c.7994T>C (p.Ile2665Thr)
|
rs375019257
|
0.00013
|
|
NM_025114.4(CEP290):c.289G>T (p.Glu97Ter)
|
rs386834153
|
0.00013
|
|
NM_025114.4(CEP290):c.5338G>A (p.Val1780Ile)
|
rs368492668
|
0.00013
|
|
NM_025114.4(CEP290):c.671C>T (p.Thr224Ile)
|
rs200587974
|
0.00013
|
|
NM_033056.4(PCDH15):c.4892C>A (p.Ala1631Glu)
|
rs56332160
|
0.00013
|
|
NM_138694.4(PKHD1):c.1201C>A (p.His401Asn)
|
rs192769565
|
0.00013
|
|
NM_138694.4(PKHD1):c.9241A>G (p.Ile3081Val)
|
rs142146981
|
0.00013
|
|
NM_153717.3(EVC):c.175-10C>T
|
rs113406354
|
0.00013
|
|
NM_153717.3(EVC):c.2449+4C>T
|
rs753679138
|
0.00013
|
|
NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter)
|
rs137853137
|
0.00013
|
|
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr)
|
rs62645748
|
0.00013
|
|
NM_206933.4(USH2A):c.15117C>T (p.Ser5039=)
|
rs148499621
|
0.00013
|
|
NM_206933.4(USH2A):c.1903A>G (p.Ile635Val)
|
rs201808654
|
0.00013
|
|
NM_206933.4(USH2A):c.4587A>C (p.Lys1529Asn)
|
rs756423843
|
0.00013
|
|
NM_206933.4(USH2A):c.4697A>G (p.Gln1566Arg)
|
rs376314751
|
0.00013
|
|
NM_206933.4(USH2A):c.6080A>C (p.Asn2027Thr)
|
rs144112891
|
0.00013
|
|
NM_206933.4(USH2A):c.6134A>G (p.His2045Arg)
|
rs111033514
|
0.00013
|
|
NM_206933.4(USH2A):c.7312G>A (p.Val2438Met)
|
rs370988961
|
0.00013
|
|
NM_000019.4(ACAT1):c.1003A>G (p.Met335Val)
|
rs369440498
|
0.00012
|
|
NM_000057.4(BLM):c.1087G>A (p.Ala363Thr)
|
rs200364297
|
0.00012
|
|
NM_000070.3(CAPN3):c.2106G>A (p.Ala702=)
|
rs144260889
|
0.00012
|
|
NM_000232.5(SGCB):c.799C>T (p.Arg267Cys)
|
rs200761715
|
0.00012
|
|
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)
|
rs61752717
|
0.00012
|
|
NM_000260.4(MYO7A):c.3783C>T (p.Pro1261=)
|
rs754599732
|
0.00012
|
|
NM_000260.4(MYO7A):c.4441+7C>T
|
rs372493678
|
0.00012
|
|
NM_000271.5(NPC1):c.466A>G (p.Met156Val)
|
rs149074243
|
0.00012
|
|
NM_000287.4(PEX6):c.1606C>T (p.Arg536Trp)
|
rs368752843
|
0.00012
|
|
NM_000329.3(RPE65):c.433G>A (p.Ala145Thr)
|
rs767528365
|
0.00012
|
|
NM_000329.3(RPE65):c.441A>G (p.Thr147=)
|
rs185049543
|
0.00012
|
|
NM_000360.4(TH):c.91-868C>T
|
rs148235227
|
0.00012
|
|
NM_000360.4(TH):c.91-896G>A
|
rs376736869
|
0.00012
|
|
NM_000370.3(TTPA):c.635C>A (p.Pro212Gln)
|
rs141163645
|
0.00012
|
|
NM_000441.2(SLC26A4):c.1234G>A (p.Val412Ile)
|
rs111033527
|
0.00012
|
|
NM_000466.3(PEX1):c.3198T>C (p.Ser1066=)
|
rs150190899
|
0.00012
|
|
NM_000492.4(CFTR):c.1270G>A (p.Gly424Ser)
|
rs371107552
|
0.00012
|
|
NM_000492.4(CFTR):c.4092G>A (p.Ala1364=)
|
rs148878126
|
0.00012
|
|
NM_000784.4(CYP27A1):c.578G>A (p.Arg193Gln)
|
rs181649030
|
0.00012
|
|
NM_001130987.2(DYSF):c.1406C>T (p.Thr469Met)
|
rs376358025
|
0.00012
|
|
NM_001130987.2(DYSF):c.1481G>A (p.Arg494His)
|
rs199879861
|
0.00012
|
|
NM_001130987.2(DYSF):c.2068A>T (p.Ile690Phe)
|
rs367901920
|
0.00012
|
|
NM_001130987.2(DYSF):c.5094C>T (p.Ile1698=)
|
rs149087116
|
0.00012
|
|
NM_001130987.2(DYSF):c.6320C>T (p.Pro2107Leu)
|
rs149732545
|
0.00012
|
|
NM_001378454.1(ALMS1):c.11611A>T (p.Asn3871Tyr)
|
rs368957150
|
0.00012
|
|
NM_001378454.1(ALMS1):c.11689G>A (p.Gly3897Ser)
|
rs187887110
|
0.00012
|
|
NM_001378454.1(ALMS1):c.4204A>G (p.Thr1402Ala)
|
rs199649563
|
0.00012
|
|
NM_001384140.1(PCDH15):c.521A>G (p.Asn174Ser)
|
rs145037203
|
0.00012
|
|
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter)
|
rs111033260
|
0.00012
|
|
NM_001384474.1(LOXHD1):c.683C>T (p.Pro228Leu)
|
rs372408513
|
0.00012
|
|
NM_001692.4(ATP6V1B1):c.1287G>A (p.Met429Ile)
|
rs368854893
|
0.00012
|
|
NM_001692.4(ATP6V1B1):c.1298T>C (p.Val433Ala)
|
rs149910460
|
0.00012
|
|
NM_001692.4(ATP6V1B1):c.926A>G (p.Glu309Gly)
|
rs201556073
|
0.00012
|
|
NM_002454.3(MTRR):c.973C>A (p.Gln325Lys)
|
rs138098668
|
0.00012
|
|
NM_003384.3(VRK1):c.759A>G (p.Gln253=)
|
rs150534939
|
0.00012
|
|
NM_004004.6(GJB2):c.120A>C (p.Ala40=)
|
rs561870637
|
0.00012
|
|
NM_007259.5(VPS45):c.778A>G (p.Arg260Gly)
|
rs587646859
|
0.00012
|
|
NM_014363.6(SACS):c.4998A>G (p.Thr1666=)
|
rs184994682
|
0.00012
|
|
NM_015474.4(SAMHD1):c.1393C>A (p.Gln465Lys)
|
rs142393072
|
0.00012
|
|
NM_022124.6(CDH23):c.2235C>T (p.Ile745=)
|
rs368841307
|
0.00012
|
|
NM_022124.6(CDH23):c.6081T>G (p.Ile2027Met)
|
rs114919561
|
0.00012
|
|
NM_022124.6(CDH23):c.6678C>T (p.Asn2226=)
|
rs372120764
|
0.00012
|
|
NM_024649.5(BBS1):c.1313C>G (p.Thr438Arg)
|
rs199711874
|
0.00012
|
|
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter)
|
rs121917777
|
0.00012
|
|
NM_025114.4(CEP290):c.1667T>A (p.Ile556Asn)
|
rs727503854
|
0.00012
|
|
NM_025114.4(CEP290):c.31A>G (p.Met11Val)
|
rs185939120
|
0.00012
|
|
NM_025114.4(CEP290):c.4978T>A (p.Leu1660Ile)
|
rs372557655
|
0.00012
|
|
NM_025114.4(CEP290):c.5125C>A (p.Gln1709Lys)
|
rs367580207
|
0.00012
|
|
NM_025114.4(CEP290):c.5998A>G (p.Ile2000Val)
|
rs183071230
|
0.00012
|
|
NM_031885.5(BBS2):c.1157C>T (p.Thr386Met)
|
rs138314289
|
0.00012
|
|
NM_138694.4(PKHD1):c.10797C>T (p.His3599=)
|
rs577357613
|
0.00012
|
|
NM_138694.4(PKHD1):c.3090G>A (p.Ala1030=)
|
rs557162970
|
0.00012
|
|
NM_138694.4(PKHD1):c.3804C>T (p.Ala1268=)
|
rs201769990
|
0.00012
|
|
NM_138694.4(PKHD1):c.3904G>A (p.Val1302Ile)
|
rs141972092
|
0.00012
|
|
NM_138694.4(PKHD1):c.5829C>T (p.Gly1943=)
|
rs376709130
|
0.00012
|
|
NM_138694.4(PKHD1):c.5910G>A (p.Gly1970=)
|
rs200730851
|
0.00012
|
|
NM_138694.4(PKHD1):c.7911+5C>A
|
rs199953233
|
0.00012
|
|
NM_152443.3(RDH12):c.300C>T (p.Ser100=)
|
rs746513362
|
0.00012
|
|
NM_152618.3(BBS12):c.1237C>G (p.Leu413Val)
|
rs758217005
|
0.00012
|
|
NM_153676.4(USH1C):c.965G>A (p.Arg322Gln)
|
rs140424216
|
0.00012
|
|
NM_153717.3(EVC):c.1694del (p.Ala565fs)
|
rs753014919
|
0.00012
|
|
NM_174878.3(CLRN1):c.183G>A (p.Met61Ile)
|
rs140094683
|
0.00012
|
|
NM_201253.3(CRB1):c.2681A>G (p.Asn894Ser)
|
rs62636290
|
0.00012
|
|
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)
|
rs111033364
|
0.00012
|
|
NM_206933.4(USH2A):c.3941A>G (p.Glu1314Gly)
|
rs77797012
|
0.00012
|
|
NM_206933.4(USH2A):c.7924A>G (p.Ile2642Val)
|
rs143523460
|
0.00012
|
|
NR_003051.4(RMRP):n.112G>A
|
rs1031995271
|
0.00012
|
|
NR_003051.4(RMRP):n.90G>A
|
rs780957606
|
0.00012
|
|
NM_000057.4(BLM):c.1086C>T (p.Asp362=)
|
rs375632163
|
0.00011
|
|
NM_000057.4(BLM):c.2638G>C (p.Glu880Gln)
|
rs201770808
|
0.00011
|
|
NM_000070.3(CAPN3):c.1521C>T (p.Tyr507=)
|
rs370231427
|
0.00011
|
|
NM_000070.3(CAPN3):c.1984G>T (p.Ala662Ser)
|
rs187054121
|
0.00011
|
|
NM_000070.3(CAPN3):c.292G>A (p.Val98Ile)
|
rs368585092
|
0.00011
|
|
NM_000070.3(CAPN3):c.47A>C (p.Glu16Ala)
|
rs775742866
|
0.00011
|
|
NM_000231.3(SGCG):c.653T>C (p.Ile218Thr)
|
rs202045534
|
0.00011
|
|
NM_000232.5(SGCB):c.188A>G (p.Asn63Ser)
|
rs377071680
|
0.00011
|
|
NM_000243.3(MEFV):c.1171G>A (p.Asp391Asn)
|
rs764274816
|
0.00011
|
|
NM_000243.3(MEFV):c.1341G>C (p.Lys447Asn)
|
rs756322372
|
0.00011
|
|
NM_000260.4(MYO7A):c.1358G>A (p.Cys453Tyr)
|
rs202080237
|
0.00011
|
|
NM_000260.4(MYO7A):c.1797+7C>T
|
rs782820757
|
0.00011
|
|
NM_000260.4(MYO7A):c.2081C>T (p.Pro694Leu)
|
rs200057810
|
0.00011
|
|
NM_000260.4(MYO7A):c.2475C>T (p.Arg825=)
|
rs782711428
|
0.00011
|
|
NM_000260.4(MYO7A):c.3297C>T (p.Pro1099=)
|
rs367668576
|
0.00011
|
|
NM_000260.4(MYO7A):c.4130T>C (p.Phe1377Ser)
|
rs777168937
|
0.00011
|
|
NM_000260.4(MYO7A):c.639C>T (p.Phe213=)
|
rs540197003
|
0.00011
|
|
NM_000260.4(MYO7A):c.6552G>A (p.Thr2184=)
|
rs370866578
|
0.00011
|
|
NM_000271.5(NPC1):c.1431G>A (p.Thr477=)
|
rs375307057
|
0.00011
|
|
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val)
|
rs372030650
|
0.00011
|
|
NM_000271.5(NPC1):c.501A>G (p.Ser167=)
|
rs202148667
|
0.00011
|
|
NM_000271.5(NPC1):c.541G>A (p.Ala181Thr)
|
rs199963560
|
0.00011
|
|
NM_000277.3(PAH):c.1243G>A (p.Asp415Asn)
|
rs62644499
|
0.00011
|
|
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln)
|
rs191969418
|
0.00011
|
|
NM_000288.4(PEX7):c.903+1G>C
|
rs148591292
|
0.00011
|
|
NM_000329.3(RPE65):c.272G>A (p.Arg91Gln)
|
rs61752873
|
0.00011
|
|
NM_000360.4(TH):c.1383G>A (p.Pro461=)
|
rs552808212
|
0.00011
|
|
NM_000360.4(TH):c.91-828C>T
|
rs764689284
|
0.00011
|
|
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln)
|
rs111033205
|
0.00011
|
|
NM_000466.3(PEX1):c.1587+5T>C
|
rs199526105
|
0.00011
|
|
NM_000466.3(PEX1):c.1700T>G (p.Leu567Trp)
|
rs199989676
|
0.00011
|
|
NM_000466.3(PEX1):c.1815A>G (p.Lys605=)
|
rs112688556
|
0.00011
|
|
NM_000466.3(PEX1):c.2954G>A (p.Arg985His)
|
rs202057449
|
0.00011
|
|
NM_000543.5(SMPD1):c.349G>A (p.Val117Met)
|
rs202206564
|
0.00011
|
|
NM_000543.5(SMPD1):c.534C>T (p.Ile178=)
|
rs142147633
|
0.00011
|
|
NM_000543.5(SMPD1):c.909A>G (p.Ala303=)
|
rs201134693
|
0.00011
|
|
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His)
|
rs587778778
|
0.00011
|
|
NM_000784.4(CYP27A1):c.355C>T (p.Arg119Trp)
|
rs369294392
|
0.00011
|
|
NM_001017420.3(ESCO2):c.325T>C (p.Cys109Arg)
|
rs199653554
|
0.00011
|
|
NM_001039958.2(MESP2):c.408G>T (p.Ser136=)
|
rs760746152
|
0.00011
|
|
NM_001130987.2(DYSF):c.2434G>A (p.Val812Ile)
|
rs371609233
|
0.00011
|
|
NM_001130987.2(DYSF):c.2864+8G>A
|
rs371686795
|
0.00011
|
|
NM_001130987.2(DYSF):c.3297C>T (p.Leu1099=)
|
rs144936357
|
0.00011
|
|
NM_001130987.2(DYSF):c.5884+6C>T
|
rs144355449
|
0.00011
|
|
NM_001130987.2(DYSF):c.718A>G (p.Thr240Ala)
|
rs150029218
|
0.00011
|
|
NM_001378454.1(ALMS1):c.12114+4C>T
|
rs373191489
|
0.00011
|
|
NM_001378454.1(ALMS1):c.12151C>T (p.Arg4051Cys)
|
rs201874056
|
0.00011
|
|
NM_001378454.1(ALMS1):c.1701A>G (p.Thr567=)
|
rs184736482
|
0.00011
|
|
NM_001378454.1(ALMS1):c.1976C>T (p.Thr659Met)
|
rs199682595
|
0.00011
|
|
NM_001378454.1(ALMS1):c.2309C>T (p.Pro770Leu)
|
rs187132771
|
0.00011
|
|
NM_001378454.1(ALMS1):c.5842A>G (p.Ser1948Gly)
|
rs367728446
|
0.00011
|
|
NM_001378454.1(ALMS1):c.5990A>G (p.Lys1997Arg)
|
rs150331660
|
0.00011
|
|
NM_001378454.1(ALMS1):c.9359A>C (p.Lys3120Thr)
|
rs375038066
|
0.00011
|
|
NM_001384474.1(LOXHD1):c.1476G>T (p.Trp492Cys)
|
rs369682197
|
0.00011
|
|
NM_001384474.1(LOXHD1):c.1759C>T (p.Arg587Trp)
|
rs540100675
|
0.00011
|
|
NM_001386140.1(MTTP):c.368C>T (p.Thr123Met)
|
rs754693915
|
0.00011
|
|
NM_001692.4(ATP6V1B1):c.1378+10G>A
|
rs782676816
|
0.00011
|
|
NM_002485.5(NBN):c.1036G>A (p.Val346Met)
|
rs200297914
|
0.00011
|
|
NM_002485.5(NBN):c.1914+10G>A
|
rs577706448
|
0.00011
|
|
NM_002485.5(NBN):c.37+10G>C
|
rs369408590
|
0.00011
|
|
NM_002485.5(NBN):c.505C>T (p.Arg169Cys)
|
rs182756889
|
0.00011
|
|
NM_002617.4(PEX10):c.268C>T (p.Leu90=)
|
rs775772867
|
0.00011
|
|
NM_002617.4(PEX10):c.915G>A (p.Ala305=)
|
rs374891812
|
0.00011
|
|
NM_003384.3(VRK1):c.845T>C (p.Ile282Thr)
|
rs371024271
|
0.00011
|
|
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg)
|
rs104894397
|
0.00011
|
|
NM_006019.4(TCIRG1):c.1464-5C>T
|
rs372813575
|
0.00011
|
|
NM_006019.4(TCIRG1):c.21C>T (p.Ser7=)
|
rs373244328
|
0.00011
|
|
NM_006019.4(TCIRG1):c.387C>T (p.Ala129=)
|
rs763756780
|
0.00011
|
|
NM_007259.5(VPS45):c.1334C>G (p.Ala445Gly)
|
rs781801888
|
0.00011
|
|
NM_014363.6(SACS):c.10076C>T (p.Thr3359Ile)
|
rs368089670
|
0.00011
|
|
NM_014363.6(SACS):c.1033C>T (p.Arg345Trp)
|
rs776156836
|
0.00011
|
|
NM_014363.6(SACS):c.12451C>T (p.Leu4151=)
|
rs780701057
|
0.00011
|
|
NM_014363.6(SACS):c.4900G>C (p.Glu1634Gln)
|
rs143961484
|
0.00011
|
|
NM_014363.6(SACS):c.4936C>A (p.Leu1646Met)
|
rs200810800
|
0.00011
|
|
NM_014363.6(SACS):c.5841C>T (p.Pro1947=)
|
rs145371235
|
0.00011
|
|
NM_022124.6(CDH23):c.1514+6A>G
|
rs367949981
|
0.00011
|
|
NM_022124.6(CDH23):c.1520C>T (p.Ser507Leu)
|
rs201584731
|
0.00011
|
|
NM_022124.6(CDH23):c.1621G>A (p.Glu541Lys)
|
rs562019725
|
0.00011
|
|
NM_022124.6(CDH23):c.1672G>A (p.Val558Met)
|
rs780661396
|
0.00011
|
|
NM_022124.6(CDH23):c.1919C>T (p.Thr640Met)
|
rs199796910
|
0.00011
|
|
NM_022124.6(CDH23):c.5363C>T (p.Pro1788Leu)
|
rs564555435
|
0.00011
|
|
NM_022124.6(CDH23):c.6163C>T (p.Leu2055=)
|
rs536022792
|
0.00011
|
|
NM_022124.6(CDH23):c.6869C>T (p.Thr2290Met)
|
rs370912192
|
0.00011
|
|
NM_022124.6(CDH23):c.7394G>A (p.Arg2465Gln)
|
rs199903227
|
0.00011
|
|
NM_022124.6(CDH23):c.7552G>A (p.Val2518Met)
|
rs376617494
|
0.00011
|
|
NM_022124.6(CDH23):c.838A>G (p.Thr280Ala)
|
rs777244853
|
0.00011
|
|
NM_022124.6(CDH23):c.8437C>T (p.Pro2813Ser)
|
rs537251448
|
0.00011
|
|
NM_022124.6(CDH23):c.8465A>G (p.Asp2822Gly)
|
rs373155603
|
0.00011
|
|
NM_022124.6(CDH23):c.9865A>G (p.Thr3289Ala)
|
rs375712395
|
0.00011
|
|
NM_024301.5(FKRP):c.11C>G (p.Thr4Ser)
|
rs771333733
|
0.00011
|
|
NM_024301.5(FKRP):c.613C>G (p.Arg205Gly)
|
rs753297636
|
0.00011
|
|
NM_024649.5(BBS1):c.981C>T (p.Pro327=)
|
rs142243482
|
0.00011
|
|
NM_024685.4(BBS10):c.1595G>A (p.Arg532Lys)
|
rs142297424
|
0.00011
|
|
NM_025114.4(CEP290):c.2473G>A (p.Glu825Lys)
|
rs779666225
|
0.00011
|
|
NM_025114.4(CEP290):c.4088G>A (p.Arg1363Gln)
|
rs188502327
|
0.00011
|
|
NM_025114.4(CEP290):c.4741C>T (p.Leu1581Phe)
|
rs11831931
|
0.00011
|
|
NM_025114.4(CEP290):c.6142G>C (p.Gly2048Arg)
|
rs377000187
|
0.00011
|
|
NM_025114.4(CEP290):c.6572A>T (p.His2191Leu)
|
rs368428115
|
0.00011
|
|
NM_025114.4(CEP290):c.6629G>A (p.Arg2210His)
|
rs371833544
|
0.00011
|
|
NM_025216.3(WNT10A):c.427C>T (p.His143Tyr)
|
rs202024965
|
0.00011
|
|
NM_031885.5(BBS2):c.1516C>T (p.Arg506Trp)
|
rs560253338
|
0.00011
|
|
NM_138694.4(PKHD1):c.3839G>A (p.Arg1280His)
|
rs374233100
|
0.00011
|
|
NM_138694.4(PKHD1):c.7091T>A (p.Ile2364Asn)
|
rs76260483
|
0.00011
|
|
NM_138694.4(PKHD1):c.8107+8T>G
|
rs368339881
|
0.00011
|
|
NM_138694.4(PKHD1):c.8407T>C (p.Cys2803Arg)
|
rs398124495
|
0.00011
|
|
NM_152443.3(RDH12):c.569G>A (p.Ser190Asn)
|
rs371107041
|
0.00011
|
|
NM_152618.3(BBS12):c.344T>C (p.Val115Ala)
|
rs144179606
|
0.00011
|
|
NM_153676.4(USH1C):c.2419G>A (p.Gly807Ser)
|
rs142652588
|
0.00011
|
|
NM_153676.4(USH1C):c.407G>A (p.Arg136Gln)
|
rs558663132
|
0.00011
|
|
NM_153717.3(EVC):c.1707G>C (p.Leu569=)
|
rs575586341
|
0.00011
|
|
NM_153717.3(EVC):c.2341G>A (p.Val781Met)
|
rs370514515
|
0.00011
|
|
NM_201253.3(CRB1):c.2488A>T (p.Ile830Phe)
|
rs779451259
|
0.00011
|
|
NM_201253.3(CRB1):c.2714G>A (p.Arg905Gln)
|
rs114052315
|
0.00011
|
|
NM_201253.3(CRB1):c.4030A>G (p.Ile1344Val)
|
rs111761880
|
0.00011
|
|
NM_201253.3(CRB1):c.679G>A (p.Glu227Lys)
|
rs190037839
|
0.00011
|
|
NM_206933.4(USH2A):c.10059G>A (p.Pro3353=)
|
rs147842359
|
0.00011
|
|
NM_206933.4(USH2A):c.10341C>T (p.Ala3447=)
|
rs372015149
|
0.00011
|
|
NM_206933.4(USH2A):c.12392C>T (p.Thr4131Ile)
|
rs149647002
|
0.00011
|
|
NM_206933.4(USH2A):c.14516C>T (p.Thr4839Met)
|
rs139065588
|
0.00011
|
|
NM_206933.4(USH2A):c.14680G>A (p.Ala4894Thr)
|
rs369778428
|
0.00011
|
|
NM_206933.4(USH2A):c.188G>A (p.Arg63Gln)
|
rs369806765
|
0.00011
|
|
NM_206933.4(USH2A):c.1935A>T (p.Thr645=)
|
rs146670690
|
0.00011
|
|
NM_206933.4(USH2A):c.2633G>A (p.Arg878His)
|
rs200124505
|
0.00011
|
|
NM_206933.4(USH2A):c.3443C>T (p.Pro1148Leu)
|
rs141339026
|
0.00011
|
|
NM_206933.4(USH2A):c.5890C>T (p.Arg1964Cys)
|
rs148049006
|
0.00011
|
|
NM_206933.4(USH2A):c.8179G>T (p.Val2727Leu)
|
rs145399306
|
0.00011
|
|
NM_206933.4(USH2A):c.8342C>T (p.Thr2781Ile)
|
rs143240767
|
0.00011
|
|
NM_000019.4(ACAT1):c.772C>T (p.Arg258Cys)
|
rs753816946
|
0.00010
|
|
NM_000023.4(SGCA):c.1076C>A (p.Thr359Asn)
|
rs146924667
|
0.00010
|
|
NM_000023.4(SGCA):c.320C>T (p.Ala107Val)
|
rs186669379
|
0.00010
|
|
NM_000057.4(BLM):c.2598A>T (p.Val866=)
|
rs574053990
|
0.00010
|
|
NM_000057.4(BLM):c.3426C>T (p.Ala1142=)
|
rs147148171
|
0.00010
|
|
NM_000232.5(SGCB):c.152G>A (p.Arg51His)
|
rs143751283
|
0.00010
|
|
NM_000232.5(SGCB):c.785T>C (p.Met262Thr)
|
rs201923065
|
0.00010
|
|
NM_000243.3(MEFV):c.2282G>A (p.Arg761His)
|
rs104895097
|
0.00010
|
|
NM_000260.4(MYO7A):c.1343+5C>T
|
rs113261636
|
0.00010
|
|
NM_000260.4(MYO7A):c.1343+6G>A
|
rs201886336
|
0.00010
|
|
NM_000260.4(MYO7A):c.2680G>A (p.Glu894Lys)
|
rs372366760
|
0.00010
|
|
NM_000260.4(MYO7A):c.3157C>T (p.Pro1053Ser)
|
rs370104824
|
0.00010
|
|
NM_000260.4(MYO7A):c.617G>A (p.Arg206His)
|
rs781998354
|
0.00010
|
|
NM_000271.5(NPC1):c.2349G>C (p.Leu783Phe)
|
rs759628748
|
0.00010
|
|
NM_000271.5(NPC1):c.2861C>T (p.Ser954Leu)
|
rs543206298
|
0.00010
|
|
NM_000277.3(PAH):c.509+21G>T
|
rs191700258
|
0.00010
|
|
NM_000277.3(PAH):c.533A>G (p.Glu178Gly)
|
rs77958223
|
0.00010
|
|
NM_000277.3(PAH):c.842C>T (p.Pro281Leu)
|
rs5030851
|
0.00010
|
|
NM_000287.4(PEX6):c.1082C>T (p.Thr361Ile)
|
rs145335409
|
0.00010
|
|
NM_000287.4(PEX6):c.2783G>A (p.Arg928His)
|
rs201265954
|
0.00010
|
|
NM_000287.4(PEX6):c.740C>G (p.Pro247Arg)
|
rs199697021
|
0.00010
|
|
NM_000287.4(PEX6):c.970G>A (p.Glu324Lys)
|
rs201678533
|
0.00010
|
|
NM_000318.3(PEX2):c.152G>A (p.Arg51His)
|
rs549242503
|
0.00010
|
|
NM_000360.4(TH):c.126C>A (p.Ile42=)
|
rs755664117
|
0.00010
|
|
NM_000360.4(TH):c.127G>A (p.Glu43Lys)
|
rs772029518
|
0.00010
|
|
NM_000360.4(TH):c.1389G>A (p.Thr463=)
|
rs370029424
|
0.00010
|
|
NM_000360.4(TH):c.452T>C (p.Val151Ala)
|
rs147569564
|
0.00010
|
|
NM_000360.4(TH):c.576G>A (p.Pro192=)
|
rs201809787
|
0.00010
|
|
NM_000370.3(TTPA):c.513_514insTT (p.Thr172fs)
|
rs397515379
|
0.00010
|
|
NM_000441.2(SLC26A4):c.17G>T (p.Gly6Val)
|
rs111033423
|
0.00010
|
|
NM_000441.2(SLC26A4):c.2029C>T (p.Arg677Trp)
|
rs397516426
|
0.00010
|
|
NM_000441.2(SLC26A4):c.2291C>T (p.Thr764Met)
|
rs150597240
|
0.00010
|
|
NM_000466.3(PEX1):c.3650T>G (p.Met1217Arg)
|
rs200306465
|
0.00010
|
|
NM_000492.4(CFTR):c.2557A>G (p.Ile853Val)
|
rs780187979
|
0.00010
|
|
NM_000784.4(CYP27A1):c.1017G>A (p.Thr339=)
|
rs200553205
|
0.00010
|
|
NM_000784.4(CYP27A1):c.256G>A (p.Val86Met)
|
rs200604732
|
0.00010
|
|
NM_000784.4(CYP27A1):c.379C>T (p.Arg127Trp)
|
rs201114717
|
0.00010
|
|
NM_000784.4(CYP27A1):c.792G>A (p.Val264=)
|
rs144018609
|
0.00010
|
|
NM_001017420.3(ESCO2):c.383G>A (p.Gly128Glu)
|
rs557813179
|
0.00010
|
|
NM_001127671.2(LIFR):c.2280G>A (p.Leu760=)
|
rs370455274
|
0.00010
|
|
NM_001127671.2(LIFR):c.2886C>T (p.Ala962=)
|
rs775970749
|
0.00010
|
|
NM_001130987.2(DYSF):c.1149T>G (p.Pro383=)
|
rs199955501
|
0.00010
|
|
NM_001130987.2(DYSF):c.2386C>T (p.Arg796Cys)
|
rs143568054
|
0.00010
|
|
NM_001130987.2(DYSF):c.4712C>T (p.Thr1571Met)
|
rs144422408
|
0.00010
|
|
NM_001378454.1(ALMS1):c.11033G>A (p.Arg3678Gln)
|
rs371007945
|
0.00010
|
|
NM_001378454.1(ALMS1):c.12086T>C (p.Leu4029Pro)
|
rs372910832
|
0.00010
|
|
NM_001378454.1(ALMS1):c.1867T>C (p.Ser623Pro)
|
rs767987501
|
0.00010
|
|
NM_001378454.1(ALMS1):c.2152C>T (p.His718Tyr)
|
rs199572177
|
0.00010
|
|
NM_001378454.1(ALMS1):c.3103C>T (p.Pro1035Ser)
|
rs531648685
|
0.00010
|
|
NM_001378454.1(ALMS1):c.3727G>C (p.Glu1243Gln)
|
rs372620412
|
0.00010
|
|
NM_001378454.1(ALMS1):c.4249C>T (p.Arg1417Trp)
|
rs199615803
|
0.00010
|
|
NM_001378454.1(ALMS1):c.8883G>A (p.Pro2961=)
|
rs367862140
|
0.00010
|
|
NM_001378454.1(ALMS1):c.9600A>C (p.Ala3200=)
|
rs113808259
|
0.00010
|
|
NM_001384140.1(PCDH15):c.19C>A (p.Leu7Ile)
|
rs762092314
|
0.00010
|
|
NM_001384140.1(PCDH15):c.2051A>G (p.Tyr684Cys)
|
rs372076259
|
0.00010
|
|
NM_001384140.1(PCDH15):c.2550A>C (p.Ala850=)
|
rs140893140
|
0.00010
|
|
NM_001384140.1(PCDH15):c.2807C>T (p.Ala936Val)
|
rs369029215
|
0.00010
|
|
NM_001384140.1(PCDH15):c.3951C>T (p.Thr1317=)
|
rs144955298
|
0.00010
|
|
NM_001384474.1(LOXHD1):c.3144C>A (p.Gly1048=)
|
rs141514234
|
0.00010
|
|
NM_001384474.1(LOXHD1):c.4756C>T (p.Arg1586Cys)
|
rs773223976
|
0.00010
|
|
NM_001384474.1(LOXHD1):c.5387A>G (p.Lys1796Arg)
|
rs370816148
|
0.00010
|
|
NM_001384474.1(LOXHD1):c.6562C>T (p.Arg2188Trp)
|
rs771007568
|
0.00010
|
|
NM_001384474.1(LOXHD1):c.6640G>A (p.Gly2214Ser)
|
rs769490340
|
0.00010
|
|
NM_001384474.1(LOXHD1):c.811C>T (p.Arg271Cys)
|
rs727503151
|
0.00010
|
|
NM_001386140.1(MTTP):c.1149T>C (p.Ser383=)
|
rs374820674
|
0.00010
|
|
NM_001386140.1(MTTP):c.95G>A (p.Arg32Gln)
|
rs199537553
|
0.00010
|
|
NM_001692.4(ATP6V1B1):c.422C>T (p.Ala141Val)
|
rs372842500
|
0.00010
|
|
NM_004004.6(GJB2):c.37G>A (p.Val13Met)
|
rs768130937
|
0.00010
|
|
NM_004004.6(GJB2):c.675A>T (p.Pro225=)
|
rs563151740
|
0.00010
|
|
NM_006019.4(TCIRG1):c.1269G>A (p.Ala423=)
|
rs147119709
|
0.00010
|
|
NM_006019.4(TCIRG1):c.2008C>T (p.Arg670Ter)
|
rs371263807
|
0.00010
|
|
NM_006019.4(TCIRG1):c.2333C>T (p.Ala778Val)
|
rs144775787
|
0.00010
|
|
NM_006118.4(HAX1):c.505-4G>A
|
rs186219647
|
0.00010
|
|
NM_007259.5(VPS45):c.1174G>A (p.Ala392Thr)
|
rs782059726
|
0.00010
|
|
NM_007259.5(VPS45):c.1190G>A (p.Arg397Gln)
|
rs373735080
|
0.00010
|
|
NM_007259.5(VPS45):c.897A>G (p.Pro299=)
|
rs184193549
|
0.00010
|
|
NM_014363.6(SACS):c.1464G>A (p.Pro488=)
|
rs375352514
|
0.00010
|
|
NM_014363.6(SACS):c.2494T>C (p.Ser832Pro)
|
rs549957998
|
0.00010
|
|
NM_014363.6(SACS):c.5368G>A (p.Ala1790Thr)
|
rs147517201
|
0.00010
|
|
NM_022124.6(CDH23):c.137C>T (p.Thr46Met)
|
rs727504613
|
0.00010
|
|
NM_022124.6(CDH23):c.2207G>A (p.Arg736Gln)
|
rs377348311
|
0.00010
|
|
NM_022124.6(CDH23):c.2869C>T (p.Arg957Cys)
|
rs532018311
|
0.00010
|
|
NM_022124.6(CDH23):c.3115G>A (p.Val1039Met)
|
rs781597943
|
0.00010
|
|
NM_022124.6(CDH23):c.3186C>A (p.Thr1062=)
|
rs201589645
|
0.00010
|
|
NM_022124.6(CDH23):c.3764A>T (p.Lys1255Met)
|
rs372158876
|
0.00010
|
|
NM_022124.6(CDH23):c.4704C>T (p.Thr1568=)
|
rs186866326
|
0.00010
|
|
NM_022124.6(CDH23):c.4780C>T (p.Arg1594Cys)
|
rs200664666
|
0.00010
|
|
NM_022124.6(CDH23):c.5228C>A (p.Thr1743Asn)
|
rs191021194
|
0.00010
|
|
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn)
|
rs111033271
|
0.00010
|
|
NM_022124.6(CDH23):c.9771A>C (p.Gly3257=)
|
rs373249121
|
0.00010
|
|
NM_024301.5(FKRP):c.731G>A (p.Arg244His)
|
rs764641619
|
0.00010
|
|
NM_024685.4(BBS10):c.1590A>C (p.Arg530Ser)
|
rs146812823
|
0.00010
|
|
NM_025114.4(CEP290):c.3773A>G (p.Asn1258Ser)
|
rs200830750
|
0.00010
|
|
NM_025114.4(CEP290):c.4938A>G (p.Lys1646=)
|
rs371582975
|
0.00010
|
|
NM_025114.4(CEP290):c.5164A>G (p.Thr1722Ala)
|
rs375817905
|
0.00010
|
|
NM_025114.4(CEP290):c.5284C>T (p.Arg1762Cys)
|
rs373307908
|
0.00010
|
|
NM_025114.4(CEP290):c.6005A>G (p.Tyr2002Cys)
|
rs573872325
|
0.00010
|
|
NM_025114.4(CEP290):c.6806T>C (p.Ile2269Thr)
|
rs200090371
|
0.00010
|
|
NM_025216.3(WNT10A):c.444G>A (p.Ala148=)
|
rs147145554
|
0.00010
|
|
NM_031885.5(BBS2):c.642C>T (p.Gly214=)
|
rs141563594
|
0.00010
|
|
NM_031885.5(BBS2):c.823C>T (p.Arg275Ter)
|
rs121908177
|
0.00010
|
|
NM_033056.4(PCDH15):c.5726G>A (p.Arg1909His)
|
rs145851144
|
0.00010
|
|
NM_138694.4(PKHD1):c.1694-10C>G
|
rs745911880
|
0.00010
|
|
NM_138694.4(PKHD1):c.1849T>C (p.Tyr617His)
|
rs141177165
|
0.00010
|
|
NM_138694.4(PKHD1):c.5895dup (p.Leu1966fs)
|
rs746838237
|
0.00010
|
|
NM_138694.4(PKHD1):c.6687T>C (p.Ser2229=)
|
rs148497044
|
0.00010
|
|
NM_138694.4(PKHD1):c.934C>T (p.Arg312Trp)
|
rs372340268
|
0.00010
|
|
NM_152443.3(RDH12):c.701G>A (p.Arg234His)
|
rs750636662
|
0.00010
|
|
NM_152618.3(BBS12):c.1261C>A (p.Arg421Ser)
|
rs199596849
|
0.00010
|
|
NM_174878.3(CLRN1):c.400C>T (p.Pro134Ser)
|
rs368175674
|
0.00010
|
|
NM_201253.3(CRB1):c.3171C>T (p.Asn1057=)
|
rs62636284
|
0.00010
|
|
NM_206933.4(USH2A):c.10585+4T>G
|
rs372667667
|
0.00010
|
|
NM_206933.4(USH2A):c.11506C>T (p.Pro3836Ser)
|
rs371987720
|
0.00010
|
|
NM_206933.4(USH2A):c.12897G>T (p.Arg4299Ser)
|
rs143898511
|
0.00010
|
|
NM_206933.4(USH2A):c.14567A>G (p.Asn4856Ser)
|
rs139799843
|
0.00010
|
|
NM_206933.4(USH2A):c.14892C>T (p.Tyr4964=)
|
rs149877542
|
0.00010
|
|
NM_206933.4(USH2A):c.15306C>T (p.Ala5102=)
|
rs149506333
|
0.00010
|
|
NM_206933.4(USH2A):c.4046C>T (p.Ser1349Phe)
|
rs145148501
|
0.00010
|
|
NM_206933.4(USH2A):c.4445C>T (p.Thr1482Ile)
|
rs200790812
|
0.00010
|
|
NM_206933.4(USH2A):c.7541A>G (p.Asn2514Ser)
|
rs150060240
|
0.00010
|
|
NM_206933.4(USH2A):c.8760G>A (p.Thr2920=)
|
rs200525258
|
0.00010
|
|
NR_003051.4(RMRP):n.121C>T
|
rs549849356
|
0.00010
|
|
NR_003051.4(RMRP):n.67A>G
|
rs530883024
|
0.00010
|
|
NM_000023.4(SGCA):c.155T>G (p.Val52Gly)
|
rs148132791
|
0.00009
|
|
NM_000023.4(SGCA):c.764C>T (p.Pro255Leu)
|
rs138019537
|
0.00009
|
|
NM_000057.4(BLM):c.1933C>T (p.Gln645Ter)
|
rs373525781
|
0.00009
|
|
NM_000057.4(BLM):c.2293G>A (p.Val765Ile)
|
rs191789336
|
0.00009
|
|
NM_000057.4(BLM):c.2739C>T (p.Leu913=)
|
rs759223856
|
0.00009
|
|
NM_000070.3(CAPN3):c.1787A>G (p.Lys596Arg)
|
rs747461807
|
0.00009
|
|
NM_000070.3(CAPN3):c.2269C>T (p.His757Tyr)
|
rs148246325
|
0.00009
|
|
NM_000070.3(CAPN3):c.868A>T (p.Met290Leu)
|
rs747399155
|
0.00009
|
|
NM_000231.3(SGCG):c.17A>G (p.Tyr6Cys)
|
rs148041867
|
0.00009
|
|
NM_000231.3(SGCG):c.497G>A (p.Arg166Gln)
|
rs776289036
|
0.00009
|
|
NM_000231.3(SGCG):c.506-7T>G
|
rs774582375
|
0.00009
|
|
NM_000243.3(MEFV):c.1984A>G (p.Lys662Glu)
|
rs1348832741
|
0.00009
|
|
NM_000243.3(MEFV):c.959G>C (p.Gly320Ala)
|
rs374412819
|
0.00009
|
|
NM_000260.4(MYO7A):c.1997G>A (p.Arg666Gln)
|
rs782396605
|
0.00009
|
|
NM_000260.4(MYO7A):c.2316A>G (p.Thr772=)
|
rs369466539
|
0.00009
|
|
NM_000260.4(MYO7A):c.2806C>T (p.Pro936Ser)
|
rs559446180
|
0.00009
|
|
NM_000260.4(MYO7A):c.3750+7G>A
|
rs397516305
|
0.00009
|
|
NM_000260.4(MYO7A):c.3954C>T (p.His1318=)
|
rs749218462
|
0.00009
|
|
NM_000260.4(MYO7A):c.3987C>T (p.Tyr1329=)
|
rs560284703
|
0.00009
|
|
NM_000260.4(MYO7A):c.4195G>C (p.Asp1399His)
|
rs373080197
|
0.00009
|
|
NM_000260.4(MYO7A):c.4442-7G>A
|
rs372023062
|
0.00009
|
|
NM_000260.4(MYO7A):c.549G>A (p.Ser183=)
|
rs188198404
|
0.00009
|
|
NM_000260.4(MYO7A):c.6209G>A (p.Arg2070Gln)
|
rs397516328
|
0.00009
|
|
NM_000271.5(NPC1):c.2775C>T (p.Asn925=)
|
rs147419225
|
0.00009
|
|
NM_000271.5(NPC1):c.3821G>A (p.Arg1274Gln)
|
rs151305963
|
0.00009
|
|
NM_000271.5(NPC1):c.553A>G (p.Asn185Asp)
|
rs139485263
|
0.00009
|
|
NM_000277.3(PAH):c.117C>G (p.Phe39Leu)
|
rs62642926
|
0.00009
|
|
NM_000277.3(PAH):c.434A>T (p.Asp145Val)
|
rs140175796
|
0.00009
|
|
NM_000277.3(PAH):c.60+9C>T
|
rs369454152
|
0.00009
|
|
NM_000277.3(PAH):c.721C>T (p.Arg241Cys)
|
rs76687508
|
0.00009
|
|
NM_000277.3(PAH):c.838G>A (p.Glu280Lys)
|
rs62508698
|
0.00009
|
|
NM_000287.4(PEX6):c.1607G>A (p.Arg536Gln)
|
rs138431842
|
0.00009
|
|
NM_000317.3(PTS):c.174A>G (p.Thr58=)
|
rs745627441
|
0.00009
|
|
NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter)
|
rs774130993
|
0.00009
|
|
NM_000329.3(RPE65):c.295G>A (p.Val99Ile)
|
rs143056561
|
0.00009
|
|
NM_000329.3(RPE65):c.902A>G (p.Asn301Ser)
|
rs201075875
|
0.00009
|
|
NM_000360.4(TH):c.51C>T (p.Ala17=)
|
rs199645400
|
0.00009
|
|
NM_000382.3(ALDH3A2):c.345C>T (p.Phe115=)
|
rs201390270
|
0.00009
|
|
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu)
|
rs111033309
|
0.00009
|
|
NM_000441.2(SLC26A4):c.2T>C (p.Met1Thr)
|
rs111033302
|
0.00009
|
|
NM_000466.3(PEX1):c.3130G>A (p.Gly1044Arg)
|
rs371136331
|
0.00009
|
|
NM_000492.4(CFTR):c.137C>T (p.Ala46Val)
|
rs151020603
|
0.00009
|
|
NM_000492.4(CFTR):c.1454G>C (p.Ser485Thr)
|
rs143980575
|
0.00009
|
|
NM_000492.4(CFTR):c.1731C>T (p.Tyr577=)
|
rs55928397
|
0.00009
|
|
NM_000525.4(KCNJ11):c.186G>A (p.Thr62=)
|
rs748877741
|
0.00009
|
|
NM_000784.4(CYP27A1):c.1184+1G>A
|
rs587778777
|
0.00009
|
|
NM_001039958.2(MESP2):c.168T>G (p.Pro56=)
|
rs894593728
|
0.00009
|
|
NM_001122769.3(LCA5):c.1550G>T (p.Arg517Ile)
|
rs140706052
|
0.00009
|
|
NM_001122769.3(LCA5):c.1912A>G (p.Asn638Asp)
|
rs371962473
|
0.00009
|
|
NM_001127671.2(LIFR):c.2591+6A>T
|
rs372291945
|
0.00009
|
|
NM_001130987.2(DYSF):c.1577-1699C>T
|
rs183489578
|
0.00009
|
|
NM_001130987.2(DYSF):c.1798C>T (p.Arg600Trp)
|
rs149386446
|
0.00009
|
|
NM_001130987.2(DYSF):c.2485G>A (p.Ala829Thr)
|
rs562925562
|
0.00009
|
|
NM_001130987.2(DYSF):c.2509C>T (p.Arg837Trp)
|
rs371841411
|
0.00009
|
|
NM_001130987.2(DYSF):c.2700T>C (p.Tyr900=)
|
rs149979662
|
0.00009
|
|
NM_001130987.2(DYSF):c.2883C>T (p.Asp961=)
|
rs143775913
|
0.00009
|
|
NM_001130987.2(DYSF):c.3907C>T (p.His1303Tyr)
|
rs202061751
|
0.00009
|
|
NM_001130987.2(DYSF):c.4037C>T (p.Ala1346Val)
|
rs201476613
|
0.00009
|
|
NM_001130987.2(DYSF):c.4252C>G (p.Pro1418Ala)
|
rs151268930
|
0.00009
|
|
NM_001130987.2(DYSF):c.4874G>A (p.Arg1625Gln)
|
rs538781815
|
0.00009
|
|
NM_001130987.2(DYSF):c.4904A>G (p.Asn1635Ser)
|
rs772664716
|
0.00009
|
|
NM_001130987.2(DYSF):c.5389C>G (p.Gln1797Glu)
|
rs370866476
|
0.00009
|
|
NM_001130987.2(DYSF):c.5609C>T (p.Thr1870Met)
|
rs199649417
|
0.00009
|
|
NM_001130987.2(DYSF):c.690C>T (p.Pro230=)
|
rs376293526
|
0.00009
|
|
NM_001378454.1(ALMS1):c.11017C>A (p.Leu3673Ile)
|
rs549757247
|
0.00009
|
|
NM_001378454.1(ALMS1):c.11867A>G (p.His3956Arg)
|
rs553786370
|
0.00009
|
|
NM_001378454.1(ALMS1):c.12119C>T (p.Ser4040Leu)
|
rs763327026
|
0.00009
|
|
NM_001378454.1(ALMS1):c.8595A>G (p.Val2865=)
|
rs1052804740
|
0.00009
|
|
NM_001378454.1(ALMS1):c.8C>T (p.Pro3Leu)
|
rs914898490
|
0.00009
|
|
NM_001384140.1(PCDH15):c.1712T>C (p.Val571Ala)
|
rs780503140
|
0.00009
|
|
NM_001384140.1(PCDH15):c.1978G>C (p.Val660Leu)
|
rs373482210
|
0.00009
|
|
NM_001384140.1(PCDH15):c.2619A>G (p.Glu873=)
|
rs150784450
|
0.00009
|
|
NM_001384140.1(PCDH15):c.2751+9T>C
|
rs180804907
|
0.00009
|
|
NM_001384140.1(PCDH15):c.2823G>T (p.Lys941Asn)
|
rs773599066
|
0.00009
|
|
NM_001384140.1(PCDH15):c.2891G>A (p.Arg964Lys)
|
rs149605588
|
0.00009
|
|
NM_001384474.1(LOXHD1):c.1640G>A (p.Arg547His)
|
rs184173766
|
0.00009
|
|
NM_001384474.1(LOXHD1):c.5085+6G>A
|
rs373466081
|
0.00009
|
|
NM_001384474.1(LOXHD1):c.5514G>A (p.Glu1838=)
|
rs749182319
|
0.00009
|
|
NM_001384474.1(LOXHD1):c.6666G>A (p.Glu2222=)
|
rs1030153414
|
0.00009
|
|
NM_001384474.1(LOXHD1):c.834C>T (p.Asp278=)
|
rs112969644
|
0.00009
|
|
NM_001386140.1(MTTP):c.124G>A (p.Val42Ile)
|
rs756998920
|
0.00009
|
|
NM_001386140.1(MTTP):c.130C>G (p.Leu44Val)
|
rs779068565
|
0.00009
|
|
NM_001692.4(ATP6V1B1):c.664G>A (p.Ala222Thr)
|
rs781981910
|
0.00009
|
|
NM_001692.4(ATP6V1B1):c.750C>T (p.Asn250=)
|
rs185606441
|
0.00009
|
|
NM_001692.4(ATP6V1B1):c.752T>G (p.Val251Gly)
|
rs370481432
|
0.00009
|
|
NM_002454.3(MTRR):c.1677-2dup
|
rs747255318
|
0.00009
|
|
NM_002454.3(MTRR):c.1769+1G>A
|
rs778738842
|
0.00009
|
|
NM_002617.4(PEX10):c.427C>T (p.Arg143Cys)
|
rs199667764
|
0.00009
|
|
NM_006019.4(TCIRG1):c.1898A>G (p.Gln633Arg)
|
rs765175241
|
0.00009
|
|
NM_006019.4(TCIRG1):c.2119-10C>T
|
rs377606178
|
0.00009
|
|
NM_006019.4(TCIRG1):c.97G>A (p.Gly33Ser)
|
rs775576535
|
0.00009
|
|
NM_006118.4(HAX1):c.317-2A>G
|
rs371504152
|
0.00009
|
|
NM_007259.5(VPS45):c.1197C>A (p.Ser399Arg)
|
rs371572450
|
0.00009
|
|
NM_014363.6(SACS):c.10221A>G (p.Leu3407=)
|
rs143243372
|
0.00009
|
|
NM_014363.6(SACS):c.12260A>G (p.Tyr4087Cys)
|
rs373478772
|
0.00009
|
|
NM_014363.6(SACS):c.1463C>T (p.Pro488Leu)
|
rs375875022
|
0.00009
|
|
NM_014363.6(SACS):c.5744A>G (p.His1915Arg)
|
rs144822691
|
0.00009
|
|
NM_015474.4(SAMHD1):c.1320C>T (p.Asp440=)
|
rs371992324
|
0.00009
|
|
NM_022124.6(CDH23):c.1205C>T (p.Pro402Leu)
|
rs373168635
|
0.00009
|
|
NM_022124.6(CDH23):c.1213G>A (p.Val405Ile)
|
rs370549448
|
0.00009
|
|
NM_022124.6(CDH23):c.1282G>A (p.Asp428Asn)
|
rs188376296
|
0.00009
|
|
NM_022124.6(CDH23):c.1963G>A (p.Val655Ile)
|
rs374805957
|
0.00009
|
|
NM_022124.6(CDH23):c.2394C>T (p.Thr798=)
|
rs373269394
|
0.00009
|
|
NM_022124.6(CDH23):c.2939C>T (p.Thr980Met)
|
rs535416598
|
0.00009
|
|
NM_022124.6(CDH23):c.3262G>A (p.Val1088Met)
|
rs200632520
|
0.00009
|
|
NM_022124.6(CDH23):c.3352G>A (p.Gly1118Ser)
|
rs562052236
|
0.00009
|
|
NM_022124.6(CDH23):c.386C>T (p.Ala129Val)
|
rs183046743
|
0.00009
|
|
NM_022124.6(CDH23):c.4863C>T (p.Tyr1621=)
|
rs374797859
|
0.00009
|
|
NM_022124.6(CDH23):c.5026G>A (p.Ala1676Thr)
|
rs56043301
|
0.00009
|
|
NM_022124.6(CDH23):c.6530C>T (p.Pro2177Leu)
|
rs376453794
|
0.00009
|
|
NM_022124.6(CDH23):c.7245G>A (p.Val2415=)
|
rs751865337
|
0.00009
|
|
NM_022124.6(CDH23):c.7361C>T (p.Thr2454Met)
|
rs772949926
|
0.00009
|
|
NM_022124.6(CDH23):c.7996A>G (p.Ile2666Val)
|
rs368394419
|
0.00009
|
|
NM_022124.6(CDH23):c.8534G>A (p.Arg2845His)
|
rs199668532
|
0.00009
|
|
NM_022124.6(CDH23):c.8979+4C>T
|
rs775540400
|
0.00009
|
|
NM_022124.6(CDH23):c.9238G>A (p.Ala3080Thr)
|
rs369395479
|
0.00009
|
|
NM_022124.6(CDH23):c.9413G>A (p.Arg3138Gln)
|
rs372676235
|
0.00009
|
|
NM_022124.6(CDH23):c.9983G>A (p.Arg3328His)
|
rs148475933
|
0.00009
|
|
NM_024649.5(BBS1):c.1021C>T (p.Arg341Trp)
|
rs767395683
|
0.00009
|
|
NM_024649.5(BBS1):c.1634A>G (p.Asn545Ser)
|
rs148948642
|
0.00009
|
|
NM_024649.5(BBS1):c.6C>T (p.Ala2=)
|
rs143592479
|
0.00009
|
|
NM_024685.4(BBS10):c.1333C>A (p.Leu445Ile)
|
rs199878555
|
0.00009
|
|
NM_025114.4(CEP290):c.1523-6T>C
|
rs755202424
|
0.00009
|
|
NM_025114.4(CEP290):c.2098C>T (p.His700Tyr)
|
rs369104382
|
0.00009
|
|
NM_025114.4(CEP290):c.4437+1G>A
|
rs760915898
|
0.00009
|
|
NM_025114.4(CEP290):c.4577A>T (p.Glu1526Val)
|
rs760625332
|
0.00009
|
|
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter)
|
rs137852834
|
0.00009
|
|
NM_025114.4(CEP290):c.5012+10C>T
|
rs191369238
|
0.00009
|
|
NM_025114.4(CEP290):c.5421A>G (p.Thr1807=)
|
rs370464321
|
0.00009
|
|
NM_025216.3(WNT10A):c.429C>T (p.His143=)
|
rs747642854
|
0.00009
|
|
NM_033056.4(PCDH15):c.4919G>A (p.Arg1640Lys)
|
rs567843031
|
0.00009
|
|
NM_138694.4(PKHD1):c.10354A>G (p.Thr3452Ala)
|
rs562503637
|
0.00009
|
|
NM_138694.4(PKHD1):c.10384A>G (p.Ile3462Val)
|
rs139742511
|
0.00009
|
|
NM_138694.4(PKHD1):c.11342C>T (p.Ser3781Leu)
|
rs780849635
|
0.00009
|
|
NM_138694.4(PKHD1):c.2162C>T (p.Thr721Met)
|
rs140608845
|
0.00009
|
|
NM_138694.4(PKHD1):c.282-3C>T
|
rs535210707
|
0.00009
|
|
NM_138694.4(PKHD1):c.5193G>A (p.Val1731=)
|
rs146531432
|
0.00009
|
|
NM_138694.4(PKHD1):c.9345A>G (p.Glu3115=)
|
rs760710708
|
0.00009
|
|
NM_138694.4(PKHD1):c.9663G>A (p.Pro3221=)
|
rs371508721
|
0.00009
|
|
NM_138694.4(PKHD1):c.9714A>G (p.Gly3238=)
|
rs754654892
|
0.00009
|
|
NM_152618.3(BBS12):c.1262G>A (p.Arg421His)
|
rs778351153
|
0.00009
|
|
NM_152618.3(BBS12):c.1460G>A (p.Arg487Lys)
|
rs376531209
|
0.00009
|
|
NM_152618.3(BBS12):c.67G>A (p.Ala23Thr)
|
rs371153231
|
0.00009
|
|
NM_153676.4(USH1C):c.1199G>A (p.Arg400His)
|
rs750721690
|
0.00009
|
|
NM_153676.4(USH1C):c.2240A>G (p.Gln747Arg)
|
rs201600193
|
0.00009
|
|
NM_153717.3(EVC):c.1744C>G (p.Leu582Val)
|
rs367863826
|
0.00009
|
|
NM_153717.3(EVC):c.759A>G (p.Ser253=)
|
rs201105095
|
0.00009
|
|
NM_201253.3(CRB1):c.2809G>A (p.Ala937Thr)
|
rs114630940
|
0.00009
|
|
NM_206933.4(USH2A):c.10826G>T (p.Ser3609Ile)
|
rs727504307
|
0.00009
|
|
NM_206933.4(USH2A):c.11062C>T (p.Pro3688Ser)
|
rs147214756
|
0.00009
|
|
NM_206933.4(USH2A):c.11923G>A (p.Ala3975Thr)
|
rs372327495
|
0.00009
|
|
NM_206933.4(USH2A):c.12332C>T (p.Ser4111Phe)
|
rs142095945
|
0.00009
|
|
NM_206933.4(USH2A):c.1297C>T (p.Pro433Ser)
|
rs139556361
|
0.00009
|
|
NM_206933.4(USH2A):c.13217T>C (p.Leu4406Pro)
|
rs745693690
|
0.00009
|
|
NM_206933.4(USH2A):c.1981C>G (p.Gln661Glu)
|
rs140955723
|
0.00009
|
|
NM_206933.4(USH2A):c.2167+5G>A
|
rs771583281
|
0.00009
|
|
NM_206933.4(USH2A):c.2707G>T (p.Asp903Tyr)
|
rs180994250
|
0.00009
|
|
NM_206933.4(USH2A):c.3226C>T (p.Pro1076Ser)
|
rs139089840
|
0.00009
|
|
NM_206933.4(USH2A):c.4397-1G>A
|
rs199982344
|
0.00009
|
|
NM_206933.4(USH2A):c.4618G>A (p.Asp1540Asn)
|
rs752238803
|
0.00009
|
|
NM_206933.4(USH2A):c.671G>C (p.Ser224Thr)
|
rs142234324
|
0.00009
|
|
NM_206933.4(USH2A):c.9439T>C (p.Trp3147Arg)
|
rs139649540
|
0.00009
|
|
NM_206933.4(USH2A):c.9614G>A (p.Arg3205His)
|
rs200726531
|
0.00009
|
|
NM_000019.4(ACAT1):c.502A>G (p.Thr168Ala)
|
rs577313004
|
0.00008
|
|
NM_000023.4(SGCA):c.983A>T (p.Asp328Val)
|
rs966135192
|
0.00008
|
|
NM_000057.4(BLM):c.3310G>A (p.Gly1104Ser)
|
rs141269464
|
0.00008
|
|
NM_000057.4(BLM):c.3427G>A (p.Glu1143Lys)
|
rs140387675
|
0.00008
|
|
NM_000057.4(BLM):c.664G>A (p.Glu222Lys)
|
rs774075577
|
0.00008
|
|
NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys)
|
rs149914792
|
0.00008
|
|
NM_000070.3(CAPN3):c.2329A>G (p.Ile777Val)
|
rs149969786
|
0.00008
|
|
NM_000231.3(SGCG):c.142G>A (p.Val48Ile)
|
rs369936288
|
0.00008
|
|
NM_000260.4(MYO7A):c.1895T>G (p.Phe632Cys)
|
rs782785036
|
0.00008
|
|
NM_000260.4(MYO7A):c.2387G>A (p.Arg796Gln)
|
rs111033224
|
0.00008
|
|
NM_000260.4(MYO7A):c.2404C>T (p.Arg802Cys)
|
rs376169396
|
0.00008
|
|
NM_000260.4(MYO7A):c.2431C>T (p.Arg811Cys)
|
rs782276809
|
0.00008
|
|
NM_000260.4(MYO7A):c.3651C>T (p.His1217=)
|
rs776731918
|
0.00008
|
|
NM_000260.4(MYO7A):c.3689G>A (p.Arg1230His)
|
rs368705036
|
0.00008
|
|
NM_000260.4(MYO7A):c.3924+8C>T
|
rs565801140
|
0.00008
|
|
NM_000260.4(MYO7A):c.4387C>T (p.Arg1463Cys)
|
rs202111392
|
0.00008
|
|
NM_000260.4(MYO7A):c.4983C>T (p.Asp1661=)
|
rs111033331
|
0.00008
|
|
NM_000260.4(MYO7A):c.519G>A (p.Gln173=)
|
rs369757929
|
0.00008
|
|
NM_000260.4(MYO7A):c.894C>T (p.Tyr298=)
|
rs554789699
|
0.00008
|
|
NM_000277.3(PAH):c.1045T>C (p.Ser349Pro)
|
rs62508646
|
0.00008
|
|
NM_000277.3(PAH):c.1140G>A (p.Thr380=)
|
rs373763334
|
0.00008
|
|
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly)
|
rs5030856
|
0.00008
|
|
NM_000287.4(PEX6):c.1821C>T (p.Ala607=)
|
rs201730259
|
0.00008
|
|
NM_000287.4(PEX6):c.390C>T (p.Thr130=)
|
rs753963225
|
0.00008
|
|
NM_000318.3(PEX2):c.288G>A (p.Gln96=)
|
rs370236723
|
0.00008
|
|
NM_000329.3(RPE65):c.1102T>C (p.Tyr368His)
|
rs62653011
|
0.00008
|
|
NM_000360.4(TH):c.1475C>T (p.Ala492Val)
|
rs201219944
|
0.00008
|
|
NM_000360.4(TH):c.576+6_576+14del
|
rs775531779
|
0.00008
|
|
NM_000360.4(TH):c.685A>T (p.Ile229Phe)
|
rs778613708
|
0.00008
|
|
NM_000370.3(TTPA):c.358G>A (p.Ala120Thr)
|
rs143010236
|
0.00008
|
|
NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp)
|
rs111033307
|
0.00008
|
|
NM_000441.2(SLC26A4):c.340G>A (p.Gly114Arg)
|
rs368844392
|
0.00008
|
|
NM_000466.3(PEX1):c.3762T>C (p.Ala1254=)
|
rs375213175
|
0.00008
|
|
NM_000492.4(CFTR):c.125C>T (p.Ser42Phe)
|
rs143456784
|
0.00008
|
|
NM_000525.4(KCNJ11):c.1117G>A (p.Val373Met)
|
rs770375846
|
0.00008
|
|
NM_000784.4(CYP27A1):c.1297C>T (p.Arg433Trp)
|
rs143002163
|
0.00008
|
|
NM_001039958.2(MESP2):c.18T>A (p.Pro6=)
|
rs529998749
|
0.00008
|
|
NM_001122769.3(LCA5):c.1019A>G (p.Lys340Arg)
|
rs577692224
|
0.00008
|
|
NM_001127671.2(LIFR):c.1722G>A (p.Ser574=)
|
rs200521119
|
0.00008
|
|
NM_001127671.2(LIFR):c.2463G>A (p.Pro821=)
|
rs749085598
|
0.00008
|
|
NM_001130987.2(DYSF):c.1449+3G>A
|
rs764771218
|
0.00008
|
|
NM_001130987.2(DYSF):c.1702G>A (p.Val568Met)
|
rs771062534
|
0.00008
|
|
NM_001130987.2(DYSF):c.2159C>T (p.Thr720Met)
|
rs775539496
|
0.00008
|
|
NM_001130987.2(DYSF):c.2393G>A (p.Arg798His)
|
rs763456750
|
0.00008
|
|
NM_001130987.2(DYSF):c.2590G>A (p.Ala864Thr)
|
rs143632564
|
0.00008
|
|
NM_001130987.2(DYSF):c.4464+7T>C
|
rs369949055
|
0.00008
|
|
NM_001130987.2(DYSF):c.565G>A (p.Glu189Lys)
|
rs151054827
|
0.00008
|
|
NM_001130987.2(DYSF):c.746C>T (p.Pro249Leu)
|
rs147876220
|
0.00008
|
|
NM_001378454.1(ALMS1):c.9496G>A (p.Glu3166Lys)
|
rs201208516
|
0.00008
|
|
NM_001384140.1(PCDH15):c.1483G>A (p.Val495Ile)
|
rs187727835
|
0.00008
|
|
NM_001384140.1(PCDH15):c.2000C>T (p.Thr667Met)
|
rs143090687
|
0.00008
|
|
NM_001384140.1(PCDH15):c.2325G>A (p.Val775=)
|
rs200792575
|
0.00008
|
|
NM_001384140.1(PCDH15):c.4214G>A (p.Arg1405His)
|
rs143538460
|
0.00008
|
|
NM_001384474.1(LOXHD1):c.1008C>T (p.Gly336=)
|
rs1444868169
|
0.00008
|
|
NM_001384474.1(LOXHD1):c.210G>T (p.Glu70Asp)
|
rs876657859
|
0.00008
|
|
NM_001384474.1(LOXHD1):c.2863G>C (p.Glu955Gln)
|
rs548893604
|
0.00008
|
|
NM_001384474.1(LOXHD1):c.6363C>A (p.Cys2121Ter)
|
rs754765193
|
0.00008
|
|
NM_001386140.1(MTTP):c.803T>C (p.Met268Thr)
|
rs146513720
|
0.00008
|
|
NM_002454.3(MTRR):c.1676+3A>G
|
rs369853875
|
0.00008
|
|
NM_002485.5(NBN):c.671G>A (p.Gly224Glu)
|
rs199845467
|
0.00008
|
|
NM_002617.4(PEX10):c.704dup (p.Leu236fs)
|
rs61750435
|
0.00008
|
|
NM_004004.6(GJB2):c.132G>A (p.Trp44Ter)
|
rs104894407
|
0.00008
|
|
NM_004004.6(GJB2):c.283G>A (p.Val95Met)
|
rs111033299
|
0.00008
|
|
NM_004004.6(GJB2):c.370C>T (p.Gln124Ter)
|
rs397516874
|
0.00008
|
|
NM_006019.4(TCIRG1):c.1305+7G>C
|
rs368136779
|
0.00008
|
|
NM_006019.4(TCIRG1):c.826C>T (p.Arg276Trp)
|
rs543099977
|
0.00008
|
|
NM_006118.4(HAX1):c.102T>G (p.Asp34Glu)
|
rs141512965
|
0.00008
|
|
NM_007259.5(VPS45):c.1395G>A (p.Gln465=)
|
rs782595882
|
0.00008
|
|
NM_007259.5(VPS45):c.462G>A (p.Gln154=)
|
rs781792682
|
0.00008
|
|
NM_007259.5(VPS45):c.785T>C (p.Val262Ala)
|
rs148174305
|
0.00008
|
|
NM_014363.6(SACS):c.10482A>G (p.Leu3494=)
|
rs149643158
|
0.00008
|
|
NM_014363.6(SACS):c.11780C>T (p.Ala3927Val)
|
rs142926244
|
0.00008
|
|
NM_014363.6(SACS):c.7394C>T (p.Ser2465Leu)
|
rs747676277
|
0.00008
|
|
NM_022124.6(CDH23):c.2059+6G>A
|
rs727502923
|
0.00008
|
|
NM_022124.6(CDH23):c.3397G>A (p.Glu1133Lys)
|
rs111033509
|
0.00008
|
|
NM_022124.6(CDH23):c.415G>A (p.Val139Ile)
|
rs771868822
|
0.00008
|
|
NM_022124.6(CDH23):c.5146C>A (p.Gln1716Lys)
|
rs369740230
|
0.00008
|
|
NM_022124.6(CDH23):c.5442C>T (p.Ile1814=)
|
rs373768157
|
0.00008
|
|
NM_022124.6(CDH23):c.5734C>T (p.Arg1912Trp)
|
rs397517344
|
0.00008
|
|
NM_022124.6(CDH23):c.7657G>A (p.Val2553Met)
|
rs370325211
|
0.00008
|
|
NM_022124.6(CDH23):c.9037G>A (p.Val3013Met)
|
rs369776863
|
0.00008
|
|
NM_024301.5(FKRP):c.54T>A (p.Leu18=)
|
rs565563742
|
0.00008
|
|
NM_024649.5(BBS1):c.407A>G (p.Gln136Arg)
|
rs144833282
|
0.00008
|
|
NM_024685.4(BBS10):c.1265G>A (p.Arg422Gln)
|
rs138961848
|
0.00008
|
|
NM_024685.4(BBS10):c.1629C>T (p.Asn543=)
|
rs145124702
|
0.00008
|
|
NM_025114.4(CEP290):c.4343C>G (p.Pro1448Arg)
|
rs757356455
|
0.00008
|
|
NM_025114.4(CEP290):c.6320A>G (p.Lys2107Arg)
|
rs755933899
|
0.00008
|
|
NM_025114.4(CEP290):c.6986A>G (p.Glu2329Gly)
|
rs772648931
|
0.00008
|
|
NM_025114.4(CEP290):c.974T>C (p.Ile325Thr)
|
rs769705837
|
0.00008
|
|
NM_031885.5(BBS2):c.1381G>A (p.Val461Met)
|
rs377000980
|
0.00008
|
|
NM_031885.5(BBS2):c.470C>T (p.Thr157Met)
|
rs376483931
|
0.00008
|
|
NM_138694.4(PKHD1):c.11836T>C (p.Leu3946=)
|
rs35403035
|
0.00008
|
|
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val)
|
rs369925690
|
0.00008
|
|
NM_153676.4(USH1C):c.1136G>A (p.Gly379Asp)
|
rs202174251
|
0.00008
|
|
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys)
|
rs368049814
|
0.00008
|
|
NM_206933.4(USH2A):c.11466C>T (p.Ser3822=)
|
rs144655434
|
0.00008
|
|
NM_206933.4(USH2A):c.11859T>C (p.Ser3953=)
|
rs141941454
|
0.00008
|
|
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe)
|
rs121912600
|
0.00008
|
|
NM_206933.4(USH2A):c.14101G>A (p.Glu4701Lys)
|
rs372966682
|
0.00008
|
|
NM_206933.4(USH2A):c.14926G>A (p.Gly4976Ser)
|
rs200761611
|
0.00008
|
|
NM_206933.4(USH2A):c.4850C>T (p.Ala1617Val)
|
rs868179223
|
0.00008
|
|
NM_206933.4(USH2A):c.7787A>G (p.Tyr2596Cys)
|
rs371685066
|
0.00008
|
|
NM_206933.4(USH2A):c.8096G>A (p.Arg2699Gln)
|
rs748137104
|
0.00008
|
|
NM_206933.4(USH2A):c.9772C>T (p.Arg3258Trp)
|
rs750218932
|
0.00008
|
|
NR_003051.3(RMRP):n.-22T>C
|
rs947939533
|
0.00008
|
|
NM_000023.4(SGCA):c.312+6G>A
|
rs371433770
|
0.00007
|
|
NM_000023.4(SGCA):c.350G>A (p.Arg117Gln)
|
rs117672945
|
0.00007
|
|
NM_000057.4(BLM):c.1495T>A (p.Ser499Thr)
|
rs371965329
|
0.00007
|
|
NM_000057.4(BLM):c.178T>A (p.Leu60Ile)
|
rs138542210
|
0.00007
|
|
NM_000057.4(BLM):c.2720C>T (p.Thr907Met)
|
rs367953471
|
0.00007
|
|
NM_000057.4(BLM):c.2856G>A (p.Gly952=)
|
rs140559841
|
0.00007
|
|
NM_000057.4(BLM):c.3358G>A (p.Gly1120Arg)
|
rs139773499
|
0.00007
|
|
NM_000057.4(BLM):c.3751+9A>C
|
rs774368488
|
0.00007
|
|
NM_000070.3(CAPN3):c.10G>A (p.Val4Ile)
|
rs140660066
|
0.00007
|
|
NM_000070.3(CAPN3):c.2429A>G (p.Asn810Ser)
|
rs200485658
|
0.00007
|
|
NM_000070.3(CAPN3):c.41C>T (p.Ala14Val)
|
rs771263688
|
0.00007
|
|
NM_000232.5(SGCB):c.31C>T (p.Gln11Ter)
|
rs752492870
|
0.00007
|
|
NM_000243.3(MEFV):c.1996A>T (p.Ile666Phe)
|
rs387907566
|
0.00007
|
|
NM_000243.3(MEFV):c.416C>A (p.Ala139Asp)
|
rs575678784
|
0.00007
|
|
NM_000243.3(MEFV):c.453G>C (p.Arg151Ser)
|
rs104895185
|
0.00007
|
|
NM_000260.4(MYO7A):c.1916A>G (p.Asn639Ser)
|
rs376811825
|
0.00007
|
|
NM_000260.4(MYO7A):c.2308G>A (p.Ala770Thr)
|
rs375253473
|
0.00007
|
|
NM_000260.4(MYO7A):c.2755G>A (p.Ala919Thr)
|
rs782787324
|
0.00007
|
|
NM_000260.4(MYO7A):c.2761C>T (p.Arg921Trp)
|
rs530696050
|
0.00007
|
|
NM_000260.4(MYO7A):c.3215C>T (p.Thr1072Ile)
|
rs543040893
|
0.00007
|
|
NM_000260.4(MYO7A):c.3507C>T (p.Asp1169=)
|
rs782788403
|
0.00007
|
|
NM_000260.4(MYO7A):c.78G>A (p.Ala26=)
|
rs373517098
|
0.00007
|
|
NM_000271.5(NPC1):c.3667A>G (p.Ile1223Val)
|
rs368658600
|
0.00007
|
|
NM_000277.3(PAH):c.1174T>A (p.Phe392Ile)
|
rs180819807
|
0.00007
|
|
NM_000277.3(PAH):c.204A>T (p.Arg68Ser)
|
rs76394784
|
0.00007
|
|
NM_000277.3(PAH):c.473G>A (p.Arg158Gln)
|
rs5030843
|
0.00007
|
|
NM_000277.3(PAH):c.896T>G (p.Phe299Cys)
|
rs62642933
|
0.00007
|
|
NM_000287.4(PEX6):c.1680C>T (p.Pro560=)
|
rs372998833
|
0.00007
|
|
NM_000287.4(PEX6):c.2104G>A (p.Val702Met)
|
rs377421228
|
0.00007
|
|
NM_000318.3(PEX2):c.769A>G (p.Ile257Val)
|
rs199874465
|
0.00007
|
|
NM_000329.3(RPE65):c.585C>T (p.Cys195=)
|
rs571111378
|
0.00007
|
|
NM_000329.3(RPE65):c.676G>A (p.Val226Ile)
|
rs750099371
|
0.00007
|
|
NM_000360.4(TH):c.1476G>A (p.Ala492=)
|
rs146945950
|
0.00007
|
|
NM_000360.4(TH):c.167C>T (p.Ala56Val)
|
rs745974715
|
0.00007
|
|
NM_000360.4(TH):c.23C>T (p.Thr8Met)
|
rs373964946
|
0.00007
|
|
NM_000360.4(TH):c.240C>T (p.Ala80=)
|
rs371658705
|
0.00007
|
|
NM_000360.4(TH):c.252G>A (p.Leu84=)
|
rs758016812
|
0.00007
|
|
NM_000382.3(ALDH3A2):c.1373G>A (p.Arg458Gln)
|
rs144190241
|
0.00007
|
|
NM_000466.3(PEX1):c.1369A>G (p.Ile457Val)
|
rs561561515
|
0.00007
|
|
NM_000466.3(PEX1):c.2465T>G (p.Leu822Arg)
|
rs545731416
|
0.00007
|
|
NM_000466.3(PEX1):c.3398C>T (p.Ser1133Phe)
|
rs185115432
|
0.00007
|
|
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys)
|
rs142920240
|
0.00007
|
|
NM_000784.4(CYP27A1):c.702C>T (p.Pro234=)
|
rs371636461
|
0.00007
|
|
NM_001017420.3(ESCO2):c.1132-7A>G
|
rs80359862
|
0.00007
|
|
NM_001122769.3(LCA5):c.858+5G>C
|
rs200302979
|
0.00007
|
|
NM_001130987.2(DYSF):c.1618T>C (p.Tyr540His)
|
rs777489323
|
0.00007
|
|
NM_001130987.2(DYSF):c.2937C>T (p.Pro979=)
|
rs192717273
|
0.00007
|
|
NM_001130987.2(DYSF):c.3505C>T (p.Arg1169Cys)
|
rs200719174
|
0.00007
|
|
NM_001130987.2(DYSF):c.4359G>A (p.Ala1453=)
|
rs371816429
|
0.00007
|
|
NM_001378454.1(ALMS1):c.12005G>A (p.Arg4002Gln)
|
rs375923289
|
0.00007
|
|
NM_001378454.1(ALMS1):c.12362G>A (p.Arg4121Gln)
|
rs376602261
|
0.00007
|
|
NM_001378454.1(ALMS1):c.1339-3A>C
|
rs572922738
|
0.00007
|
|
NM_001378454.1(ALMS1):c.2493C>T (p.Pro831=)
|
rs561060460
|
0.00007
|
|
NM_001378454.1(ALMS1):c.3974T>G (p.Val1325Gly)
|
rs868269804
|
0.00007
|
|
NM_001378454.1(ALMS1):c.9449G>A (p.Ser3150Asn)
|
rs34029285
|
0.00007
|
|
NM_001384140.1(PCDH15):c.1517C>T (p.Thr506Met)
|
rs367937228
|
0.00007
|
|
NM_001384140.1(PCDH15):c.1979T>A (p.Val660Asp)
|
rs573831072
|
0.00007
|
|
NM_001386140.1(MTTP):c.1540C>T (p.Pro514Ser)
|
rs200114105
|
0.00007
|
|
NM_001692.4(ATP6V1B1):c.204C>T (p.Phe68=)
|
rs371041253
|
0.00007
|
|
NM_001692.4(ATP6V1B1):c.298G>A (p.Asp100Asn)
|
rs531614845
|
0.00007
|
|
NM_002454.3(MTRR):c.1120C>T (p.Leu374Phe)
|
rs372106115
|
0.00007
|
|
NM_002454.3(MTRR):c.1573C>T (p.Arg525Ter)
|
rs147277149
|
0.00007
|
|
NM_002454.3(MTRR):c.21A>G (p.Leu7=)
|
rs114427781
|
0.00007
|
|
NM_002454.3(MTRR):c.903+469T>C
|
rs893229476
|
0.00007
|
|
NM_002485.5(NBN):c.1382C>T (p.Pro461Leu)
|
rs367760321
|
0.00007
|
|
NM_002485.5(NBN):c.1979G>C (p.Arg660Thr)
|
rs201781110
|
0.00007
|
|
NM_002485.5(NBN):c.227C>A (p.Thr76Asn)
|
rs587781412
|
0.00007
|
|
NM_004004.6(GJB2):c.177C>T (p.Gly59=)
|
rs375122728
|
0.00007
|
|
NM_004004.6(GJB2):c.24G>A (p.Thr8=)
|
rs533231493
|
0.00007
|
|
NM_004004.6(GJB2):c.425T>C (p.Phe142Ser)
|
rs116769964
|
0.00007
|
|
NM_006019.4(TCIRG1):c.1010G>A (p.Arg337Gln)
|
rs139263189
|
0.00007
|
|
NM_006019.4(TCIRG1):c.1195C>T (p.Leu399=)
|
rs151180675
|
0.00007
|
|
NM_006019.4(TCIRG1):c.1213G>A (p.Gly405Arg)
|
rs137853150
|
0.00007
|
|
NM_006019.4(TCIRG1):c.1278A>G (p.Arg426=)
|
rs138527421
|
0.00007
|
|
NM_006019.4(TCIRG1):c.941C>T (p.Thr314Met)
|
rs367818260
|
0.00007
|
|
NM_006118.4(HAX1):c.160C>G (p.Pro54Ala)
|
rs139205111
|
0.00007
|
|
NM_006432.5(NPC2):c.-1G>C
|
rs756433737
|
0.00007
|
|
NM_006432.5(NPC2):c.56C>A (p.Ala19Asp)
|
rs369392502
|
0.00007
|
|
NM_007259.5(VPS45):c.1267G>C (p.Val423Leu)
|
rs201002467
|
0.00007
|
|
NM_007259.5(VPS45):c.443G>A (p.Arg148Gln)
|
rs370166172
|
0.00007
|
|
NM_007259.5(VPS45):c.571G>A (p.Val191Ile)
|
rs200783288
|
0.00007
|
|
NM_014363.6(SACS):c.11066C>A (p.Pro3689Gln)
|
rs148925505
|
0.00007
|
|
NM_014363.6(SACS):c.175T>A (p.Ser59Thr)
|
rs539836931
|
0.00007
|
|
NM_014363.6(SACS):c.6178G>C (p.Val2060Leu)
|
rs373226693
|
0.00007
|
|
NM_014363.6(SACS):c.6266C>T (p.Ser2089Leu)
|
rs370095300
|
0.00007
|
|
NM_014363.6(SACS):c.8482A>G (p.Ser2828Gly)
|
rs9552930
|
0.00007
|
|
NM_015474.4(SAMHD1):c.1325G>A (p.Arg442Gln)
|
rs775762131
|
0.00007
|
|
NM_015474.4(SAMHD1):c.1743G>A (p.Pro581=)
|
rs374642075
|
0.00007
|
|
NM_022124.6(CDH23):c.2953G>C (p.Val985Leu)
|
rs374964318
|
0.00007
|
|
NM_022124.6(CDH23):c.310G>A (p.Glu104Lys)
|
rs772284876
|
0.00007
|
|
NM_022124.6(CDH23):c.336+1G>A
|
rs764824311
|
0.00007
|
|
NM_022124.6(CDH23):c.4520G>A (p.Arg1507Gln)
|
rs373480195
|
0.00007
|
|
NM_022124.6(CDH23):c.4664G>A (p.Arg1555His)
|
rs727502927
|
0.00007
|
|
NM_022124.6(CDH23):c.5009T>A (p.Val1670Asp)
|
rs397517333
|
0.00007
|
|
NM_022124.6(CDH23):c.5397G>A (p.Gly1799=)
|
rs749913488
|
0.00007
|
|
NM_022124.6(CDH23):c.612G>A (p.Thr204=)
|
rs200200488
|
0.00007
|
|
NM_022124.6(CDH23):c.6830-7A>C
|
rs200587627
|
0.00007
|
|
NM_022124.6(CDH23):c.8421C>T (p.Ser2807=)
|
rs755841293
|
0.00007
|
|
NM_024649.5(BBS1):c.1243G>A (p.Val415Met)
|
rs150444177
|
0.00007
|
|
NM_025114.4(CEP290):c.3778G>A (p.Ala1260Thr)
|
rs375609644
|
0.00007
|
|
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter)
|
rs376493409
|
0.00007
|
|
NM_025114.4(CEP290):c.5395T>G (p.Leu1799Val)
|
rs1289111857
|
0.00007
|
|
NM_025216.3(WNT10A):c.125A>G (p.Asn42Ser)
|
rs149865858
|
0.00007
|
|
NM_025216.3(WNT10A):c.874A>G (p.Ser292Gly)
|
rs767665930
|
0.00007
|
|
NM_031885.5(BBS2):c.1953T>C (p.Asn651=)
|
rs200621431
|
0.00007
|
|
NM_033056.4(PCDH15):c.4485A>G (p.Ser1495=)
|
rs772650866
|
0.00007
|
|
NM_033056.4(PCDH15):c.4542A>G (p.Thr1514=)
|
rs369183721
|
0.00007
|
|
NM_138694.4(PKHD1):c.11007G>A (p.Ser3669=)
|
rs142855690
|
0.00007
|
|
NM_138694.4(PKHD1):c.711A>T (p.Ser237=)
|
rs138184195
|
0.00007
|
|
NM_138694.4(PKHD1):c.8440+10G>C
|
rs376658460
|
0.00007
|
|
NM_138694.4(PKHD1):c.8870T>C (p.Ile2957Thr)
|
rs760222236
|
0.00007
|
|
NM_152443.3(RDH12):c.184C>T (p.Arg62Ter)
|
rs104894471
|
0.00007
|
|
NM_152618.3(BBS12):c.1506C>T (p.Ala502=)
|
rs144855583
|
0.00007
|
|
NM_152618.3(BBS12):c.1980G>A (p.Pro660=)
|
rs778953866
|
0.00007
|
|
NM_153676.4(USH1C):c.2312G>T (p.Gly771Val)
|
rs763628668
|
0.00007
|
|
NM_153676.4(USH1C):c.2371G>A (p.Glu791Lys)
|
rs772123405
|
0.00007
|
|
NM_153676.4(USH1C):c.239G>A (p.Arg80Gln)
|
rs148597739
|
0.00007
|
|
NM_153676.4(USH1C):c.406C>T (p.Arg136Trp)
|
rs368903400
|
0.00007
|
|
NM_153717.3(EVC):c.2041G>A (p.Glu681Lys)
|
rs201877358
|
0.00007
|
|
NM_174878.3(CLRN1):c.670A>G (p.Thr224Ala)
|
rs764632225
|
0.00007
|
|
NM_201253.3(CRB1):c.1075T>G (p.Ser359Ala)
|
rs533227950
|
0.00007
|
|
NM_201253.3(CRB1):c.1438T>C (p.Cys480Arg)
|
rs62636264
|
0.00007
|
|
NM_201253.3(CRB1):c.2894G>A (p.Ser965Asn)
|
rs1006177908
|
0.00007
|
|
NM_201253.3(CRB1):c.825G>A (p.Gly275=)
|
rs149685264
|
0.00007
|
|
NM_206933.4(USH2A):c.1158C>A (p.Ile386=)
|
rs1037072307
|
0.00007
|
|
NM_206933.4(USH2A):c.1205A>G (p.Lys402Arg)
|
rs768097637
|
0.00007
|
|
NM_206933.4(USH2A):c.15356G>A (p.Arg5119Gln)
|
rs201630132
|
0.00007
|
|
NM_206933.4(USH2A):c.1556A>G (p.Gln519Arg)
|
rs199672621
|
0.00007
|
|
NM_206933.4(USH2A):c.191G>A (p.Ser64Asn)
|
rs778199517
|
0.00007
|
|
NM_206933.4(USH2A):c.3043C>T (p.His1015Tyr)
|
rs142302070
|
0.00007
|
|
NM_206933.4(USH2A):c.3045C>G (p.His1015Gln)
|
rs541918040
|
0.00007
|
|
NM_206933.4(USH2A):c.5061T>C (p.Ile1687=)
|
rs144857806
|
0.00007
|
|
NM_206933.4(USH2A):c.5577C>T (p.Phe1859=)
|
rs764839361
|
0.00007
|
|
NM_206933.4(USH2A):c.6929C>T (p.Thr2310Met)
|
rs151057466
|
0.00007
|
|
NM_206933.4(USH2A):c.7061G>A (p.Arg2354His)
|
rs201386640
|
0.00007
|
|
NM_206933.4(USH2A):c.7476G>A (p.Ser2492=)
|
rs777803742
|
0.00007
|
|
NM_206933.4(USH2A):c.9922G>A (p.Gly3308Ser)
|
rs752811693
|
0.00007
|
|
NR_003051.3(RMRP):n.-22_-13dup
|
rs1554651507
|
0.00007
|
|
NR_003051.4(RMRP):n.51C>T
|
rs1030486815
|
0.00007
|
|
NM_000019.4(ACAT1):c.-5C>T
|
rs747790910
|
0.00006
|
|
NM_000019.4(ACAT1):c.1221C>T (p.Tyr407=)
|
rs367713788
|
0.00006
|
|
NM_000019.4(ACAT1):c.85G>T (p.Val29Leu)
|
rs764142914
|
0.00006
|
|
NM_000019.4(ACAT1):c.891G>A (p.Thr297=)
|
rs372169445
|
0.00006
|
|
NM_000023.4(SGCA):c.349C>T (p.Arg117Trp)
|
rs200075504
|
0.00006
|
|
NM_000057.4(BLM):c.1237G>A (p.Glu413Lys)
|
rs887921909
|
0.00006
|
|
NM_000057.4(BLM):c.1838C>T (p.Thr613Ile)
|
rs550417200
|
0.00006
|
|
NM_000057.4(BLM):c.1931T>A (p.Phe644Tyr)
|
rs371023654
|
0.00006
|
|
NM_000057.4(BLM):c.2237C>T (p.Ala746Val)
|
rs769498533
|
0.00006
|
|
NM_000057.4(BLM):c.2315C>T (p.Ala772Val)
|
rs765478171
|
0.00006
|
|
NM_000057.4(BLM):c.2619G>C (p.Lys873Asn)
|
rs146723808
|
0.00006
|
|
NM_000057.4(BLM):c.2898C>G (p.Leu966=)
|
rs201220226
|
0.00006
|
|
NM_000057.4(BLM):c.3062A>G (p.Asn1021Ser)
|
rs369629509
|
0.00006
|
|
NM_000057.4(BLM):c.3071A>G (p.Tyr1024Cys)
|
rs201676342
|
0.00006
|
|
NM_000057.4(BLM):c.4126A>G (p.Ile1376Val)
|
rs587779892
|
0.00006
|
|
NM_000057.4(BLM):c.4186T>C (p.Leu1396=)
|
rs376734461
|
0.00006
|
|
NM_000057.4(BLM):c.450C>T (p.Thr150=)
|
rs148861300
|
0.00006
|
|
NM_000057.4(BLM):c.542G>T (p.Ser181Ile)
|
rs587779893
|
0.00006
|
|
NM_000057.4(BLM):c.800-3T>G
|
rs377266736
|
0.00006
|
|
NM_000057.4(BLM):c.808G>A (p.Glu270Lys)
|
rs762053925
|
0.00006
|
|
NM_000070.3(CAPN3):c.1017G>A (p.Thr339=)
|
rs141934227
|
0.00006
|
|
NM_000070.3(CAPN3):c.1099G>A (p.Gly367Ser)
|
rs767106920
|
0.00006
|
|
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met)
|
rs200646556
|
0.00006
|
|
NM_000070.3(CAPN3):c.1404C>T (p.Asp468=)
|
rs534326487
|
0.00006
|
|
NM_000070.3(CAPN3):c.157A>G (p.Ile53Val)
|
rs144138775
|
0.00006
|
|
NM_000070.3(CAPN3):c.1812C>T (p.Phe604=)
|
rs144383704
|
0.00006
|
|
NM_000070.3(CAPN3):c.2041G>A (p.Val681Met)
|
rs553169803
|
0.00006
|
|
NM_000070.3(CAPN3):c.2109C>T (p.Leu703=)
|
rs371577901
|
0.00006
|
|
NM_000070.3(CAPN3):c.2137A>G (p.Asn713Asp)
|
rs748363488
|
0.00006
|
|
NM_000070.3(CAPN3):c.286C>G (p.Gln96Glu)
|
rs1476836379
|
0.00006
|
|
NM_000070.3(CAPN3):c.308C>T (p.Pro103Leu)
|
rs148538711
|
0.00006
|
|
NM_000070.3(CAPN3):c.329G>A (p.Arg110Gln)
|
rs188108732
|
0.00006
|
|
NM_000070.3(CAPN3):c.499-1G>A
|
rs863224964
|
0.00006
|
|
NM_000070.3(CAPN3):c.593A>G (p.Asn198Ser)
|
rs371166254
|
0.00006
|
|
NM_000070.3(CAPN3):c.913G>A (p.Asp305Asn)
|
rs753780627
|
0.00006
|
|
NM_000231.3(SGCG):c.302C>T (p.Ser101Leu)
|
rs886042370
|
0.00006
|
|
NM_000231.3(SGCG):c.436G>A (p.Asp146Asn)
|
rs373442790
|
0.00006
|
|
NM_000232.5(SGCB):c.29A>G (p.Glu10Gly)
|
rs1452778513
|
0.00006
|
|
NM_000243.3(MEFV):c.1129C>T (p.Arg377Cys)
|
rs896909303
|
0.00006
|
|
NM_000243.3(MEFV):c.116G>A (p.Arg39Lys)
|
rs141288548
|
0.00006
|
|
NM_000243.3(MEFV):c.1504G>A (p.Val502Ile)
|
rs140462252
|
0.00006
|
|
NM_000243.3(MEFV):c.1759+7C>T
|
rs772667365
|
0.00006
|
|
NM_000243.3(MEFV):c.1889C>T (p.Pro630Leu)
|
rs376579860
|
0.00006
|
|
NM_000243.3(MEFV):c.2033G>A (p.Gly678Glu)
|
rs104895088
|
0.00006
|
|
NM_000243.3(MEFV):c.2049G>A (p.Ser683=)
|
rs104895092
|
0.00006
|
|
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile)
|
rs28940578
|
0.00006
|
|
NM_000243.3(MEFV):c.657C>T (p.Gly219=)
|
rs104895182
|
0.00006
|
|
NM_000243.3(MEFV):c.796A>G (p.Lys266Glu)
|
rs755178462
|
0.00006
|
|
NM_000243.3(MEFV):c.866C>T (p.Ala289Val)
|
rs104895132
|
0.00006
|
|
NM_000260.4(MYO7A):c.1003+10C>T
|
rs782382971
|
0.00006
|
|
NM_000260.4(MYO7A):c.1049C>T (p.Pro350Leu)
|
rs376108484
|
0.00006
|
|
NM_000260.4(MYO7A):c.3270G>A (p.Leu1090=)
|
rs370305347
|
0.00006
|
|
NM_000260.4(MYO7A):c.3844G>C (p.Glu1282Gln)
|
rs887299357
|
0.00006
|
|
NM_000260.4(MYO7A):c.3856G>A (p.Ala1286Thr)
|
rs727503328
|
0.00006
|
|
NM_000260.4(MYO7A):c.4450C>T (p.Leu1484Phe)
|
rs200416912
|
0.00006
|
|
NM_000260.4(MYO7A):c.4739A>G (p.Tyr1580Cys)
|
rs370232066
|
0.00006
|
|
NM_000260.4(MYO7A):c.5246G>A (p.Arg1749Gln)
|
rs781537330
|
0.00006
|
|
NM_000260.4(MYO7A):c.5681C>T (p.Ala1894Val)
|
rs201314332
|
0.00006
|
|
NM_000260.4(MYO7A):c.6028G>A (p.Asp2010Asn)
|
rs755934966
|
0.00006
|
|
NM_000260.4(MYO7A):c.6091C>T (p.Arg2031Trp)
|
rs369460086
|
0.00006
|
|
NM_000260.4(MYO7A):c.6272A>G (p.Lys2091Arg)
|
rs781713344
|
0.00006
|
|
NM_000260.4(MYO7A):c.6412G>A (p.Val2138Ile)
|
rs367647666
|
0.00006
|
|
NM_000260.4(MYO7A):c.6421A>G (p.Ile2141Val)
|
rs761164010
|
0.00006
|
|
NM_000260.4(MYO7A):c.6527G>A (p.Arg2176His)
|
rs761867896
|
0.00006
|
|
NM_000260.4(MYO7A):c.652G>A (p.Asp218Asn)
|
rs201539845
|
0.00006
|
|
NM_000271.5(NPC1):c.1479C>T (p.Ser493=)
|
rs148078801
|
0.00006
|
|
NM_000271.5(NPC1):c.2246-6C>T
|
rs757950161
|
0.00006
|
|
NM_000271.5(NPC1):c.2747A>G (p.Asn916Ser)
|
rs756815669
|
0.00006
|
|
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg)
|
rs80358254
|
0.00006
|
|
NM_000271.5(NPC1):c.563A>G (p.Asn188Ser)
|
rs549048534
|
0.00006
|
|
NM_000271.5(NPC1):c.7G>A (p.Ala3Thr)
|
rs752896980
|
0.00006
|
|
NM_000277.3(PAH):c.222A>G (p.Lys74=)
|
rs374797155
|
0.00006
|
|
NM_000277.3(PAH):c.438C>T (p.His146=)
|
rs191142120
|
0.00006
|
|
NM_000277.3(PAH):c.814G>T (p.Gly272Ter)
|
rs62514952
|
0.00006
|
|
NM_000287.4(PEX6):c.1550G>A (p.Arg517Gln)
|
rs371782808
|
0.00006
|
|
NM_000287.4(PEX6):c.1636C>T (p.Arg546Cys)
|
rs750452619
|
0.00006
|
|
NM_000288.4(PEX7):c.340-10A>G
|
rs267608255
|
0.00006
|
|
NM_000318.3(PEX2):c.355C>T (p.Arg119Ter)
|
rs61752123
|
0.00006
|
|
NM_000329.3(RPE65):c.1086A>G (p.Gln362=)
|
rs750890448
|
0.00006
|
|
NM_000329.3(RPE65):c.1195G>A (p.Glu399Lys)
|
rs144673747
|
0.00006
|
|
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp)
|
rs61752871
|
0.00006
|
|
NM_000360.4(TH):c.1228C>A (p.Arg410=)
|
rs575326605
|
0.00006
|
|
NM_000360.4(TH):c.13G>A (p.Asp5Asn)
|
rs777016570
|
0.00006
|
|
NM_000360.4(TH):c.362C>T (p.Pro121Leu)
|
rs760017478
|
0.00006
|
|
NM_000360.4(TH):c.394G>A (p.Val132Met)
|
rs751702426
|
0.00006
|
|
NM_000360.4(TH):c.550G>A (p.Asp184Asn)
|
rs139807727
|
0.00006
|
|
NM_000360.4(TH):c.674C>A (p.Thr225Asn)
|
rs141907589
|
0.00006
|
|
NM_000370.3(TTPA):c.355A>G (p.Ile119Val)
|
rs766200402
|
0.00006
|
|
NM_000370.3(TTPA):c.75G>C (p.Gln25His)
|
rs751638180
|
0.00006
|
|
NM_000382.3(ALDH3A2):c.1179G>A (p.Thr393=)
|
rs372428552
|
0.00006
|
|
NM_000382.3(ALDH3A2):c.529C>T (p.Arg177Ter)
|
rs72547561
|
0.00006
|
|
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His)
|
rs111033305
|
0.00006
|
|
NM_000441.2(SLC26A4):c.1233C>T (p.Ala411=)
|
rs766572560
|
0.00006
|
|
NM_000441.2(SLC26A4):c.128G>A (p.Arg43His)
|
rs372116042
|
0.00006
|
|
NM_000441.2(SLC26A4):c.1489G>A (p.Gly497Ser)
|
rs111033308
|
0.00006
|
|
NM_000441.2(SLC26A4):c.2283A>G (p.Thr761=)
|
rs202033028
|
0.00006
|
|
NM_000466.3(PEX1):c.1284C>T (p.Ala428=)
|
rs145153467
|
0.00006
|
|
NM_000466.3(PEX1):c.2842C>T (p.Arg948Trp)
|
rs374167385
|
0.00006
|
|
NM_000466.3(PEX1):c.674T>A (p.Ile225Asn)
|
rs372485912
|
0.00006
|
|
NM_000492.4(CFTR):c.1519A>G (p.Ile507Val)
|
rs1801178
|
0.00006
|
|
NM_000492.4(CFTR):c.1934T>A (p.Met645Lys)
|
rs377731410
|
0.00006
|
|
NM_000492.4(CFTR):c.2597G>A (p.Cys866Tyr)
|
rs193922506
|
0.00006
|
|
NM_000492.4(CFTR):c.3289C>T (p.Arg1097Cys)
|
rs201591901
|
0.00006
|
|
NM_000492.4(CFTR):c.3429G>A (p.Leu1143=)
|
rs375845215
|
0.00006
|
|
NM_000492.4(CFTR):c.3659C>T (p.Thr1220Ile)
|
rs1800123
|
0.00006
|
|
NM_000492.4(CFTR):c.4232A>C (p.Gln1411Pro)
|
rs150177304
|
0.00006
|
|
NM_000492.4(CFTR):c.4296C>T (p.Asn1432=)
|
rs761669740
|
0.00006
|
|
NM_000543.5(SMPD1):c.1632C>T (p.Thr544=)
|
rs201659696
|
0.00006
|
|
NM_000784.4(CYP27A1):c.420C>T (p.His140=)
|
rs139415581
|
0.00006
|
|
NM_000784.4(CYP27A1):c.425T>C (p.Leu142Pro)
|
rs369363177
|
0.00006
|
|
NM_000784.4(CYP27A1):c.712G>A (p.Val238Met)
|
rs199691576
|
0.00006
|
|
NM_000784.4(CYP27A1):c.83A>C (p.Lys28Thr)
|
rs371449777
|
0.00006
|
|
NM_001039958.2(MESP2):c.218G>T (p.Arg73Leu)
|
rs771745973
|
0.00006
|
|
NM_001039958.2(MESP2):c.561G>A (p.Gly187=)
|
rs767474985
|
0.00006
|
|
NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter)
|
rs121918165
|
0.00006
|
|
NM_001127671.2(LIFR):c.1992G>A (p.Ser664=)
|
rs142392717
|
0.00006
|
|
NM_001130987.2(DYSF):c.1370C>T (p.Ala457Val)
|
rs146588926
|
0.00006
|
|
NM_001130987.2(DYSF):c.1711C>T (p.Arg571Cys)
|
rs767415886
|
0.00006
|
|
NM_001130987.2(DYSF):c.1774G>T (p.Asp592Tyr)
|
rs376932915
|
0.00006
|
|
NM_001130987.2(DYSF):c.1841C>T (p.Ala614Val)
|
rs146261069
|
0.00006
|
|
NM_001130987.2(DYSF):c.2594G>A (p.Arg865Gln)
|
rs781777155
|
0.00006
|
|
NM_001130987.2(DYSF):c.2938G>A (p.Gly980Arg)
|
rs151064013
|
0.00006
|
|
NM_001130987.2(DYSF):c.2974G>A (p.Asp992Asn)
|
rs200422222
|
0.00006
|
|
NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His)
|
rs121908958
|
0.00006
|
|
NM_001130987.2(DYSF):c.3340C>T (p.Arg1114Cys)
|
rs148171293
|
0.00006
|
|
NM_001130987.2(DYSF):c.3765C>T (p.Asp1255=)
|
rs781758050
|
0.00006
|
|
NM_001130987.2(DYSF):c.377C>T (p.Pro126Leu)
|
rs372573603
|
0.00006
|
|
NM_001130987.2(DYSF):c.378G>A (p.Pro126=)
|
rs377056951
|
0.00006
|
|
NM_001130987.2(DYSF):c.4321C>T (p.Arg1441Cys)
|
rs377706756
|
0.00006
|
|
NM_001130987.2(DYSF):c.4438G>A (p.Asp1480Asn)
|
rs765027886
|
0.00006
|
|
NM_001130987.2(DYSF):c.4608G>T (p.Lys1536Asn)
|
rs182185801
|
0.00006
|
|
NM_001130987.2(DYSF):c.5147G>A (p.Arg1716His)
|
rs138472236
|
0.00006
|
|
NM_001130987.2(DYSF):c.5874T>G (p.Asp1958Glu)
|
rs750860886
|
0.00006
|
|
NM_001130987.2(DYSF):c.5908C>T (p.Arg1970Cys)
|
rs144116735
|
0.00006
|
|
NM_001130987.2(DYSF):c.592A>C (p.Thr198Pro)
|
rs142265349
|
0.00006
|
|
NM_001130987.2(DYSF):c.6035C>T (p.Ala2012Val)
|
rs201784424
|
0.00006
|
|
NM_001130987.2(DYSF):c.6247C>T (p.Arg2083Trp)
|
rs185617318
|
0.00006
|
|
NM_001130987.2(DYSF):c.799G>A (p.Val267Met)
|
rs750724439
|
0.00006
|
|
NM_001134793.2(HYLS1):c.298C>T (p.Arg100Cys)
|
rs374420210
|
0.00006
|
|
NM_001173990.3(TMEM216):c.123A>T (p.Ile41=)
|
rs900061092
|
0.00006
|
|
NM_001173990.3(TMEM216):c.358A>G (p.Met120Val)
|
rs200289511
|
0.00006
|
|
NM_001173990.3(TMEM216):c.420T>C (p.Ala140=)
|
rs749351351
|
0.00006
|
|
NM_001378454.1(ALMS1):c.10354A>G (p.Asn3452Asp)
|
rs573748379
|
0.00006
|
|
NM_001378454.1(ALMS1):c.10704A>C (p.Arg3568Ser)
|
rs758987316
|
0.00006
|
|
NM_001378454.1(ALMS1):c.11971A>G (p.Ile3991Val)
|
rs368146962
|
0.00006
|
|
NM_001378454.1(ALMS1):c.12036C>T (p.Asp4012=)
|
rs370981817
|
0.00006
|
|
NM_001378454.1(ALMS1):c.12103G>A (p.Ala4035Thr)
|
rs757364858
|
0.00006
|
|
NM_001378454.1(ALMS1):c.12330C>G (p.Ile4110Met)
|
rs375524122
|
0.00006
|
|
NM_001378454.1(ALMS1):c.12389A>G (p.Gln4130Arg)
|
rs371587051
|
0.00006
|
|
NM_001378454.1(ALMS1):c.1470A>G (p.Gln490=)
|
rs769982352
|
0.00006
|
|
NM_001378454.1(ALMS1):c.1834A>C (p.Thr612Pro)
|
rs775286973
|
0.00006
|
|
NM_001378454.1(ALMS1):c.3038A>G (p.Tyr1013Cys)
|
rs371893544
|
0.00006
|
|
NM_001378454.1(ALMS1):c.3255G>C (p.Gln1085His)
|
rs181507134
|
0.00006
|
|
NM_001378454.1(ALMS1):c.3568A>G (p.Thr1190Ala)
|
rs772287164
|
0.00006
|
|
NM_001378454.1(ALMS1):c.3578C>T (p.Ser1193Leu)
|
rs200636395
|
0.00006
|
|
NM_001378454.1(ALMS1):c.4405C>A (p.Pro1469Thr)
|
rs373638043
|
0.00006
|
|
NM_001378454.1(ALMS1):c.4731G>A (p.Pro1577=)
|
rs747216050
|
0.00006
|
|
NM_001378454.1(ALMS1):c.5827C>T (p.Arg1943Cys)
|
rs370398704
|
0.00006
|
|
NM_001378454.1(ALMS1):c.5835G>A (p.Glu1945=)
|
rs529600949
|
0.00006
|
|
NM_001378454.1(ALMS1):c.7277G>C (p.Cys2426Ser)
|
rs35649068
|
0.00006
|
|
NM_001378454.1(ALMS1):c.7359G>T (p.Lys2453Asn)
|
rs1400122858
|
0.00006
|
|
NM_001378454.1(ALMS1):c.7367T>C (p.Ile2456Thr)
|
rs894421376
|
0.00006
|
|
NM_001378454.1(ALMS1):c.757C>T (p.Pro253Ser)
|
rs368153355
|
0.00006
|
|
NM_001378454.1(ALMS1):c.7719A>G (p.Val2573=)
|
rs561565809
|
0.00006
|
|
NM_001378454.1(ALMS1):c.7846C>T (p.Arg2616Trp)
|
rs145383239
|
0.00006
|
|
NM_001378454.1(ALMS1):c.7976C>G (p.Pro2659Arg)
|
rs537509954
|
0.00006
|
|
NM_001378454.1(ALMS1):c.9495C>T (p.Phe3165=)
|
rs45607436
|
0.00006
|
|
NM_001384140.1(PCDH15):c.1730G>A (p.Arg577Gln)
|
rs753457449
|
0.00006
|
|
NM_001384140.1(PCDH15):c.1912C>T (p.Leu638=)
|
rs763230126
|
0.00006
|
|
NM_001384140.1(PCDH15):c.200G>A (p.Gly67Glu)
|
rs930665715
|
0.00006
|
|
NM_001384140.1(PCDH15):c.2386G>A (p.Val796Ile)
|
rs374715306
|
0.00006
|
|
NM_001384140.1(PCDH15):c.2396G>A (p.Arg799His)
|
rs199824864
|
0.00006
|
|
NM_001384140.1(PCDH15):c.2992C>G (p.Pro998Ala)
|
rs397517454
|
0.00006
|
|
NM_001384140.1(PCDH15):c.3225T>C (p.Asn1075=)
|
rs746404657
|
0.00006
|
|
NM_001384140.1(PCDH15):c.3501+6C>T
|
rs370178425
|
0.00006
|
|
NM_001384140.1(PCDH15):c.3753T>C (p.Ile1251=)
|
rs139873638
|
0.00006
|
|
NM_001384140.1(PCDH15):c.3807-6T>G
|
rs727504791
|
0.00006
|
|
NM_001384140.1(PCDH15):c.3936A>G (p.Ala1312=)
|
rs398124433
|
0.00006
|
|
NM_001384140.1(PCDH15):c.4316C>T (p.Pro1439Leu)
|
rs374714898
|
0.00006
|
|
NM_001384140.1(PCDH15):c.575A>G (p.Gln192Arg)
|
rs201496062
|
0.00006
|
|
NM_001384140.1(PCDH15):c.594G>A (p.Pro198=)
|
rs368308772
|
0.00006
|
|
NM_001384140.1(PCDH15):c.709C>T (p.Arg237Cys)
|
rs200798008
|
0.00006
|
|
NM_001384140.1(PCDH15):c.882A>G (p.Glu294=)
|
rs181232514
|
0.00006
|
|
NM_001384474.1(LOXHD1):c.2399T>A (p.Val800Glu)
|
rs755485250
|
0.00006
|
|
NM_001384474.1(LOXHD1):c.286C>T (p.Arg96Trp)
|
rs397517861
|
0.00006
|
|
NM_001384474.1(LOXHD1):c.3061+1G>A
|
rs537227442
|
0.00006
|
|
NM_001384474.1(LOXHD1):c.3335T>C (p.Met1112Thr)
|
rs371252446
|
0.00006
|
|
NM_001384474.1(LOXHD1):c.3461G>A (p.Gly1154Asp)
|
rs727503142
|
0.00006
|
|
NM_001384474.1(LOXHD1):c.3936C>G (p.Leu1312=)
|
rs533251927
|
0.00006
|
|
NM_001384474.1(LOXHD1):c.4376-2A>G
|
rs886043616
|
0.00006
|
|
NM_001384474.1(LOXHD1):c.4376-6G>A
|
rs369463541
|
0.00006
|
|
NM_001384474.1(LOXHD1):c.5400-7C>G
|
rs376131738
|
0.00006
|
|
NM_001384474.1(LOXHD1):c.5740G>A (p.Gly1914Arg)
|
rs727504988
|
0.00006
|
|
NM_001384474.1(LOXHD1):c.5911G>T (p.Asp1971Tyr)
|
rs727504544
|
0.00006
|
|
NM_001384474.1(LOXHD1):c.6252C>T (p.His2084=)
|
rs753440039
|
0.00006
|
|
NM_001386140.1(MTTP):c.1769+3A>G
|
rs375993709
|
0.00006
|
|
NM_001386140.1(MTTP):c.558C>G (p.Ile186Met)
|
rs375982037
|
0.00006
|
|
NM_001386140.1(MTTP):c.915G>A (p.Ser305=)
|
rs199716549
|
0.00006
|
|
NM_001692.4(ATP6V1B1):c.362T>A (p.Met121Lys)
|
rs201325403
|
0.00006
|
|
NM_001692.4(ATP6V1B1):c.651T>G (p.His217Gln)
|
rs145196117
|
0.00006
|
|
NM_001692.4(ATP6V1B1):c.941G>A (p.Arg314His)
|
rs782110679
|
0.00006
|
|
NM_001692.4(ATP6V1B1):c.992G>A (p.Arg331Gln)
|
rs148429410
|
0.00006
|
|
NM_002454.3(MTRR):c.1246T>C (p.Phe416Leu)
|
rs769915505
|
0.00006
|
|
NM_002485.5(NBN):c.1729G>T (p.Asp577Tyr)
|
rs587781881
|
0.00006
|
|
NM_002617.4(PEX10):c.267G>A (p.Ser89=)
|
rs746952615
|
0.00006
|
|
NM_002617.4(PEX10):c.555C>T (p.His185=)
|
rs75377471
|
0.00006
|
|
NM_002617.4(PEX10):c.605G>A (p.Arg202His)
|
rs371979619
|
0.00006
|
|
NM_002617.4(PEX10):c.725G>A (p.Arg242Gln)
|
rs142257121
|
0.00006
|
|
NM_002617.4(PEX10):c.771C>T (p.His257=)
|
rs776503441
|
0.00006
|
|
NM_002617.4(PEX10):c.814_815del (p.Leu272fs)
|
rs61752093
|
0.00006
|
|
NM_002617.4(PEX10):c.839G>A (p.Arg280His)
|
rs758678654
|
0.00006
|
|
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter)
|
rs137853063
|
0.00006
|
|
NM_003384.3(VRK1):c.161-3C>T
|
rs746546400
|
0.00006
|
|
NM_003384.3(VRK1):c.576+8T>C
|
rs368495945
|
0.00006
|
|
NM_003384.3(VRK1):c.701A>G (p.Asn234Ser)
|
rs369310409
|
0.00006
|
|
NM_004004.6(GJB2):c.23C>T (p.Thr8Met)
|
rs529500747
|
0.00006
|
|
NM_006019.4(TCIRG1):c.1061G>C (p.Cys354Ser)
|
rs369222109
|
0.00006
|
|
NM_006019.4(TCIRG1):c.1629C>T (p.Val543=)
|
rs367732638
|
0.00006
|
|
NM_006019.4(TCIRG1):c.2028C>T (p.Ala676=)
|
rs370181947
|
0.00006
|
|
NM_006019.4(TCIRG1):c.2119-4G>A
|
rs554600980
|
0.00006
|
|
NM_006019.4(TCIRG1):c.307C>T (p.Arg103Cys)
|
rs771198568
|
0.00006
|
|
NM_006118.4(HAX1):c.122G>T (p.Gly41Val)
|
rs369987963
|
0.00006
|
|
NM_006118.4(HAX1):c.574T>C (p.Ser192Pro)
|
rs751426915
|
0.00006
|
|
NM_006118.4(HAX1):c.679C>T (p.Arg227Trp)
|
rs200890522
|
0.00006
|
|
NM_014363.6(SACS):c.10047A>G (p.Ser3349=)
|
rs138909482
|
0.00006
|
|
NM_014363.6(SACS):c.10790A>G (p.Gln3597Arg)
|
rs1299454627
|
0.00006
|
|
NM_014363.6(SACS):c.10954C>A (p.Pro3652Thr)
|
rs201505036
|
0.00006
|
|
NM_014363.6(SACS):c.110G>A (p.Arg37His)
|
rs866539724
|
0.00006
|
|
NM_014363.6(SACS):c.11717C>T (p.Ala3906Val)
|
rs375961779
|
0.00006
|
|
NM_014363.6(SACS):c.12190C>A (p.Pro4064Thr)
|
rs200707453
|
0.00006
|
|
NM_014363.6(SACS):c.12216T>A (p.Thr4072=)
|
rs574182225
|
0.00006
|
|
NM_014363.6(SACS):c.13106A>G (p.Asp4369Gly)
|
rs770895110
|
0.00006
|
|
NM_014363.6(SACS):c.2024A>G (p.Asn675Ser)
|
rs146395198
|
0.00006
|
|
NM_014363.6(SACS):c.2487C>T (p.Asp829=)
|
rs151198216
|
0.00006
|
|
NM_014363.6(SACS):c.2551G>T (p.Val851Phe)
|
rs756890722
|
0.00006
|
|
NM_014363.6(SACS):c.2776A>G (p.Ile926Val)
|
rs144362131
|
0.00006
|
|
NM_014363.6(SACS):c.2788A>G (p.Ile930Val)
|
rs886050088
|
0.00006
|
|
NM_014363.6(SACS):c.3768C>T (p.Tyr1256=)
|
rs200350631
|
0.00006
|
|
NM_014363.6(SACS):c.432G>T (p.Trp144Cys)
|
rs368570790
|
0.00006
|
|
NM_014363.6(SACS):c.4743C>T (p.Phe1581=)
|
rs143310473
|
0.00006
|
|
NM_014363.6(SACS):c.5529G>C (p.Leu1843=)
|
rs148091738
|
0.00006
|
|
NM_014363.6(SACS):c.6364A>G (p.Lys2122Glu)
|
rs755723511
|
0.00006
|
|
NM_014363.6(SACS):c.9550C>T (p.Arg3184Cys)
|
rs143557803
|
0.00006
|
|
NM_014363.6(SACS):c.9551G>A (p.Arg3184His)
|
rs200453385
|
0.00006
|
|
NM_015474.4(SAMHD1):c.1753G>A (p.Asp585Asn)
|
rs202165710
|
0.00006
|
|
NM_015474.4(SAMHD1):c.18C>T (p.Ser6=)
|
rs149098281
|
0.00006
|
|
NM_015702.3(MMADHC):c.515A>C (p.Lys172Thr)
|
rs147318949
|
0.00006
|
|
NM_022124.6(CDH23):c.1061G>A (p.Ser354Asn)
|
rs200792189
|
0.00006
|
|
NM_022124.6(CDH23):c.1241G>A (p.Arg414Gln)
|
rs561032891
|
0.00006
|
|
NM_022124.6(CDH23):c.1699G>A (p.Val567Met)
|
rs377148854
|
0.00006
|
|
NM_022124.6(CDH23):c.1867G>A (p.Val623Ile)
|
rs143782870
|
0.00006
|
|
NM_022124.6(CDH23):c.2551G>A (p.Glu851Lys)
|
rs771795434
|
0.00006
|
|
NM_022124.6(CDH23):c.2766C>T (p.Asn922=)
|
rs371670151
|
0.00006
|
|
NM_022124.6(CDH23):c.3021C>T (p.Asp1007=)
|
rs771887370
|
0.00006
|
|
NM_022124.6(CDH23):c.3802G>A (p.Val1268Met)
|
rs201884261
|
0.00006
|
|
NM_022124.6(CDH23):c.4136G>A (p.Arg1379His)
|
rs767004225
|
0.00006
|
|
NM_022124.6(CDH23):c.419G>A (p.Arg140His)
|
rs201361229
|
0.00006
|
|
NM_022124.6(CDH23):c.42T>C (p.Leu14=)
|
rs371440350
|
0.00006
|
|
NM_022124.6(CDH23):c.4582G>A (p.Glu1528Lys)
|
rs201533282
|
0.00006
|
|
NM_022124.6(CDH23):c.460G>A (p.Val154Met)
|
rs199741966
|
0.00006
|
|
NM_022124.6(CDH23):c.4700T>C (p.Ile1567Thr)
|
rs756184489
|
0.00006
|
|
NM_022124.6(CDH23):c.5471G>A (p.Arg1824His)
|
rs111033491
|
0.00006
|
|
NM_022124.6(CDH23):c.6050-9G>A
|
rs367928692
|
0.00006
|
|
NM_022124.6(CDH23):c.6366C>T (p.Thr2122=)
|
rs368440578
|
0.00006
|
|
NM_022124.6(CDH23):c.6376C>T (p.Arg2126Cys)
|
rs776269225
|
0.00006
|
|
NM_022124.6(CDH23):c.6911G>A (p.Arg2304Gln)
|
rs201434373
|
0.00006
|
|
NM_022124.6(CDH23):c.7295G>A (p.Gly2432Asp)
|
rs201579860
|
0.00006
|
|
NM_022124.6(CDH23):c.7362G>A (p.Thr2454=)
|
rs370983472
|
0.00006
|
|
NM_022124.6(CDH23):c.738C>T (p.Tyr246=)
|
rs745668474
|
0.00006
|
|
NM_022124.6(CDH23):c.7568C>T (p.Pro2523Leu)
|
rs369761606
|
0.00006
|
|
NM_022124.6(CDH23):c.8225C>T (p.Pro2742Leu)
|
rs758360283
|
0.00006
|
|
NM_022124.6(CDH23):c.8344G>A (p.Asp2782Asn)
|
rs202147495
|
0.00006
|
|
NM_022124.6(CDH23):c.8426G>A (p.Arg2809His)
|
rs780409612
|
0.00006
|
|
NM_022124.6(CDH23):c.8533C>T (p.Arg2845Cys)
|
rs727505254
|
0.00006
|
|
NM_022124.6(CDH23):c.8644T>C (p.Phe2882Leu)
|
rs761210350
|
0.00006
|
|
NM_022124.6(CDH23):c.8784C>T (p.Phe2928=)
|
rs755305739
|
0.00006
|
|
NM_022124.6(CDH23):c.8914G>A (p.Glu2972Lys)
|
rs746716712
|
0.00006
|
|
NM_022124.6(CDH23):c.9639G>A (p.Ser3213=)
|
rs751829738
|
0.00006
|
|
NM_022124.6(CDH23):c.9883A>C (p.Thr3295Pro)
|
rs781716568
|
0.00006
|
|
NM_022124.6(CDH23):c.9904G>A (p.Glu3302Lys)
|
rs368743687
|
0.00006
|
|
NM_022124.6(CDH23):c.9941C>T (p.Thr3314Met)
|
rs559427378
|
0.00006
|
|
NM_022124.6(CDH23):c.9979G>A (p.Ala3327Thr)
|
rs200733236
|
0.00006
|
|
NM_024301.5(FKRP):c.541C>A (p.Arg181Ser)
|
rs777245868
|
0.00006
|
|
NM_024301.5(FKRP):c.562G>A (p.Ala188Thr)
|
rs746905689
|
0.00006
|
|
NM_024301.5(FKRP):c.563C>T (p.Ala188Val)
|
rs768762059
|
0.00006
|
|
NM_024301.5(FKRP):c.632C>T (p.Ser211Leu)
|
rs750041378
|
0.00006
|
|
NM_024301.5(FKRP):c.633G>A (p.Ser211=)
|
rs921883036
|
0.00006
|
|
NM_024649.5(BBS1):c.1277A>G (p.Asn426Ser)
|
rs755782127
|
0.00006
|
|
NM_024649.5(BBS1):c.1534C>A (p.Arg512Ser)
|
rs369653969
|
0.00006
|
|
NM_024649.5(BBS1):c.1535G>A (p.Arg512His)
|
rs202205304
|
0.00006
|
|
NM_024649.5(BBS1):c.1594C>T (p.Arg532Trp)
|
rs770105141
|
0.00006
|
|
NM_024649.5(BBS1):c.478C>T (p.Arg160Trp)
|
rs199633103
|
0.00006
|
|
NM_024649.5(BBS1):c.569A>T (p.Lys190Met)
|
rs778672601
|
0.00006
|
|
NM_024649.5(BBS1):c.744C>T (p.Pro248=)
|
rs528073027
|
0.00006
|
|
NM_024685.4(BBS10):c.429T>C (p.Gly143=)
|
rs146587757
|
0.00006
|
|
NM_024685.4(BBS10):c.440A>G (p.Gln147Arg)
|
rs140585012
|
0.00006
|
|
NM_025114.4(CEP290):c.2546A>T (p.Asp849Val)
|
rs1313832672
|
0.00006
|
|
NM_025114.4(CEP290):c.3564A>G (p.Leu1188=)
|
rs900618917
|
0.00006
|
|
NM_025114.4(CEP290):c.3573+3A>G
|
rs199520739
|
0.00006
|
|
NM_025114.4(CEP290):c.4063C>T (p.Arg1355Cys)
|
rs376425111
|
0.00006
|
|
NM_025114.4(CEP290):c.4411C>T (p.Arg1471Trp)
|
rs771110294
|
0.00006
|
|
NM_025114.4(CEP290):c.4754A>G (p.His1585Arg)
|
rs199826787
|
0.00006
|
|
NM_025114.4(CEP290):c.4805C>T (p.Thr1602Met)
|
rs369451049
|
0.00006
|
|
NM_025114.4(CEP290):c.4966G>T (p.Glu1656Ter)
|
rs62638179
|
0.00006
|
|
NM_025114.4(CEP290):c.5227-9A>G
|
rs571981633
|
0.00006
|
|
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)
|
rs137852832
|
0.00006
|
|
NM_025114.4(CEP290):c.6023C>T (p.Ala2008Val)
|
rs376307540
|
0.00006
|
|
NM_025114.4(CEP290):c.6358-5C>T
|
rs372986399
|
0.00006
|
|
NM_025114.4(CEP290):c.6909A>C (p.Ala2303=)
|
rs774138995
|
0.00006
|
|
NM_025114.4(CEP290):c.7340A>C (p.Lys2447Thr)
|
rs201382524
|
0.00006
|
|
NM_025216.3(WNT10A):c.512G>A (p.Arg171His)
|
rs199737793
|
0.00006
|
|
NM_031885.5(BBS2):c.1527+5G>C
|
rs769041685
|
0.00006
|
|
NM_031885.5(BBS2):c.1543G>A (p.Gly515Ser)
|
rs181107019
|
0.00006
|
|
NM_033056.4(PCDH15):c.4553A>T (p.Asp1518Val)
|
rs528484622
|
0.00006
|
|
NM_033056.4(PCDH15):c.4749G>A (p.Arg1583=)
|
rs767811568
|
0.00006
|
|
NM_033056.4(PCDH15):c.5179G>A (p.Glu1727Lys)
|
rs775361471
|
0.00006
|
|
NM_033056.4(PCDH15):c.5380A>C (p.Thr1794Pro)
|
rs748917362
|
0.00006
|
|
NM_033056.4(PCDH15):c.5589A>G (p.Thr1863=)
|
rs572643730
|
0.00006
|
|
NM_138694.4(PKHD1):c.12106C>T (p.Arg4036Trp)
|
rs201210830
|
0.00006
|
|
NM_138694.4(PKHD1):c.1816C>T (p.Arg606Trp)
|
rs560133266
|
0.00006
|
|
NM_138694.4(PKHD1):c.2703C>T (p.Asn901=)
|
rs199768081
|
0.00006
|
|
NM_138694.4(PKHD1):c.3628+9C>A
|
rs552339299
|
0.00006
|
|
NM_138694.4(PKHD1):c.3860T>G (p.Val1287Gly)
|
rs767229742
|
0.00006
|
|
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp)
|
rs200391019
|
0.00006
|
|
NM_138694.4(PKHD1):c.5112C>T (p.Cys1704=)
|
rs202010726
|
0.00006
|
|
NM_138694.4(PKHD1):c.5129C>T (p.Pro1710Leu)
|
rs749294509
|
0.00006
|
|
NM_138694.4(PKHD1):c.5538C>T (p.Cys1846=)
|
rs373244595
|
0.00006
|
|
NM_138694.4(PKHD1):c.5772C>T (p.Phe1924=)
|
rs141473212
|
0.00006
|
|
NM_138694.4(PKHD1):c.6238A>G (p.Ser2080Gly)
|
rs528966196
|
0.00006
|
|
NM_138694.4(PKHD1):c.7810C>T (p.Arg2604Cys)
|
rs201091083
|
0.00006
|
|
NM_138694.4(PKHD1):c.7977G>A (p.Pro2659=)
|
rs748084543
|
0.00006
|
|
NM_138694.4(PKHD1):c.8319G>A (p.Val2773=)
|
rs374869252
|
0.00006
|
|
NM_138694.4(PKHD1):c.8335T>G (p.Phe2779Val)
|
rs144106341
|
0.00006
|
|
NM_138694.4(PKHD1):c.9576C>T (p.Ser3192=)
|
rs201670044
|
0.00006
|
|
NM_138694.4(PKHD1):c.9629C>G (p.Ser3210Cys)
|
rs141081295
|
0.00006
|
|
NM_152618.3(BBS12):c.1135A>G (p.Lys379Glu)
|
rs369878286
|
0.00006
|
|
NM_152618.3(BBS12):c.1323G>A (p.Val441=)
|
rs766332688
|
0.00006
|
|
NM_152618.3(BBS12):c.1507G>T (p.Val503Leu)
|
rs374865012
|
0.00006
|
|
NM_152618.3(BBS12):c.200G>A (p.Gly67Glu)
|
rs767546051
|
0.00006
|
|
NM_152618.3(BBS12):c.2014G>A (p.Ala672Thr)
|
rs140895713
|
0.00006
|
|
NM_152618.3(BBS12):c.882T>C (p.Tyr294=)
|
rs766149148
|
0.00006
|
|
NM_153676.4(USH1C):c.1070G>A (p.Arg357Gln)
|
rs895318911
|
0.00006
|
|
NM_153676.4(USH1C):c.2192G>A (p.Arg731Gln)
|
rs371626423
|
0.00006
|
|
NM_153676.4(USH1C):c.2373G>A (p.Glu791=)
|
rs746011575
|
0.00006
|
|
NM_153676.4(USH1C):c.2441C>A (p.Thr814Asn)
|
rs397517877
|
0.00006
|
|
NM_153676.4(USH1C):c.308G>A (p.Arg103His)
|
rs397514500
|
0.00006
|
|
NM_153676.4(USH1C):c.361G>A (p.Gly121Ser)
|
rs377510653
|
0.00006
|
|
NM_153676.4(USH1C):c.759+10G>T
|
rs368528034
|
0.00006
|
|
NM_153676.4(USH1C):c.822T>A (p.Ala274=)
|
rs769539248
|
0.00006
|
|
NM_153676.4(USH1C):c.921G>A (p.Ala307=)
|
rs778447994
|
0.00006
|
|
NM_153717.3(EVC):c.1242C>T (p.Ser414=)
|
rs769206763
|
0.00006
|
|
NM_153717.3(EVC):c.1980G>A (p.Thr660=)
|
rs537471996
|
0.00006
|
|
NM_153717.3(EVC):c.2550G>A (p.Ala850=)
|
rs754053651
|
0.00006
|
|
NM_153717.3(EVC):c.2868C>T (p.Ser956=)
|
rs757526901
|
0.00006
|
|
NM_153717.3(EVC):c.534C>A (p.Val178=)
|
rs774703104
|
0.00006
|
|
NM_153717.3(EVC):c.940-150T>C
|
rs576076928
|
0.00006
|
|
NM_201253.3(CRB1):c.1014C>T (p.Ile338=)
|
rs771549675
|
0.00006
|
|
NM_201253.3(CRB1):c.156T>C (p.Asn52=)
|
rs143046320
|
0.00006
|
|
NM_201253.3(CRB1):c.1746A>G (p.Leu582=)
|
rs550119977
|
0.00006
|
|
NM_201253.3(CRB1):c.1945G>A (p.Asp649Asn)
|
rs138936375
|
0.00006
|
|
NM_201253.3(CRB1):c.2826G>T (p.Val942=)
|
rs781176401
|
0.00006
|
|
NM_206933.4(USH2A):c.10126T>G (p.Tyr3376Asp)
|
rs150617613
|
0.00006
|
|
NM_206933.4(USH2A):c.10388A>G (p.Asp3463Gly)
|
rs146014881
|
0.00006
|
|
NM_206933.4(USH2A):c.10451G>A (p.Arg3484Gln)
|
rs771999994
|
0.00006
|
|
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg)
|
rs111033264
|
0.00006
|
|
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His)
|
rs527236139
|
0.00006
|
|
NM_206933.4(USH2A):c.11366T>C (p.Ile3789Thr)
|
rs183979371
|
0.00006
|
|
NM_206933.4(USH2A):c.12358C>T (p.Arg4120Cys)
|
rs727503718
|
0.00006
|
|
NM_206933.4(USH2A):c.12597T>C (p.Ala4199=)
|
rs202172029
|
0.00006
|
|
NM_206933.4(USH2A):c.12667T>C (p.Phe4223Leu)
|
rs150900847
|
0.00006
|
|
NM_206933.4(USH2A):c.13423A>G (p.Arg4475Gly)
|
rs753823008
|
0.00006
|
|
NM_206933.4(USH2A):c.14191G>A (p.Gly4731Arg)
|
rs148674752
|
0.00006
|
|
NM_206933.4(USH2A):c.1438G>A (p.Val480Ile)
|
rs138694314
|
0.00006
|
|
NM_206933.4(USH2A):c.14398A>G (p.Asn4800Asp)
|
rs370127889
|
0.00006
|
|
NM_206933.4(USH2A):c.14957C>T (p.Thr4986Met)
|
rs375429745
|
0.00006
|
|
NM_206933.4(USH2A):c.15355C>T (p.Arg5119Trp)
|
rs767137840
|
0.00006
|
|
NM_206933.4(USH2A):c.15496A>G (p.Ile5166Val)
|
rs111033419
|
0.00006
|
|
NM_206933.4(USH2A):c.184G>A (p.Asp62Asn)
|
rs567937233
|
0.00006
|
|
NM_206933.4(USH2A):c.2365G>A (p.Val789Ile)
|
rs199571930
|
0.00006
|
|
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)
|
rs201527662
|
0.00006
|
|
NM_206933.4(USH2A):c.5855C>T (p.Ala1952Val)
|
rs773405046
|
0.00006
|
|
NM_206933.4(USH2A):c.586C>T (p.Pro196Ser)
|
rs756041909
|
0.00006
|
|
NM_206933.4(USH2A):c.60G>T (p.Leu20Phe)
|
rs767611127
|
0.00006
|
|
NM_206933.4(USH2A):c.6344C>T (p.Pro2115Leu)
|
rs373034742
|
0.00006
|
|
NM_206933.4(USH2A):c.6724G>A (p.Glu2242Lys)
|
rs375278546
|
0.00006
|
|
NM_206933.4(USH2A):c.7227T>C (p.Thr2409=)
|
rs141917231
|
0.00006
|
|
NM_206933.4(USH2A):c.7475C>T (p.Ser2492Leu)
|
rs483353056
|
0.00006
|
|
NM_206933.4(USH2A):c.7616C>T (p.Pro2539Leu)
|
rs147333637
|
0.00006
|
|
NM_206933.4(USH2A):c.7679A>G (p.Asn2560Ser)
|
rs370155266
|
0.00006
|
|
NM_206933.4(USH2A):c.8790T>G (p.Asn2930Lys)
|
rs754774098
|
0.00006
|
|
NM_206933.4(USH2A):c.9356G>A (p.Arg3119His)
|
rs199885325
|
0.00006
|
|
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr)
|
rs121912599
|
0.00006
|
|
NM_206933.4(USH2A):c.9949C>T (p.Arg3317Cys)
|
rs200696560
|
0.00006
|
|
NR_003051.4(RMRP):n.107_108insT
|
rs775287390
|
0.00006
|
|
NR_003051.4(RMRP):n.116G>A
|
rs747605028
|
0.00006
|
|
NR_003051.4(RMRP):n.37C>T
|
rs549085067
|
0.00006
|
|
NR_003051.4(RMRP):n.56C>T
|
rs1032219537
|
0.00006
|
|
NM_000019.4(ACAT1):c.1209G>A (p.Lys403=)
|
rs200729208
|
0.00005
|
|
NM_000019.4(ACAT1):c.34G>A (p.Ala12Thr)
|
rs764674778
|
0.00005
|
|
NM_000023.4(SGCA):c.575G>A (p.Arg192Gln)
|
rs200945974
|
0.00005
|
|
NM_000057.4(BLM):c.1121A>G (p.His374Arg)
|
rs776225502
|
0.00005
|
|
NM_000057.4(BLM):c.1194C>T (p.Asn398=)
|
rs202103556
|
0.00005
|
|
NM_000057.4(BLM):c.1261G>A (p.Ala421Thr)
|
rs587779879
|
0.00005
|
|
NM_000057.4(BLM):c.1924G>A (p.Glu642Lys)
|
rs201458487
|
0.00005
|
|
NM_000057.4(BLM):c.2025G>A (p.Ala675=)
|
rs781424357
|
0.00005
|
|
NM_000057.4(BLM):c.2049A>G (p.Glu683=)
|
rs201440695
|
0.00005
|
|
NM_000057.4(BLM):c.3136G>A (p.Gly1046Ser)
|
rs373241803
|
0.00005
|
|
NM_000057.4(BLM):c.3229G>A (p.Val1077Met)
|
rs779096973
|
0.00005
|
|
NM_000057.4(BLM):c.361A>C (p.Thr121Pro)
|
rs774608080
|
0.00005
|
|
NM_000057.4(BLM):c.368A>G (p.Gln123Arg)
|
rs371223446
|
0.00005
|
|
NM_000057.4(BLM):c.4224G>A (p.Pro1408=)
|
rs774367622
|
0.00005
|
|
NM_000057.4(BLM):c.934T>G (p.Ser312Ala)
|
rs372454889
|
0.00005
|
|
NM_000070.3(CAPN3):c.1437C>T (p.Ser479=)
|
rs147914333
|
0.00005
|
|
NM_000070.3(CAPN3):c.184G>A (p.Glu62Lys)
|
rs370422576
|
0.00005
|
|
NM_000070.3(CAPN3):c.2050C>T (p.His684Tyr)
|
rs201566716
|
0.00005
|
|
NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly)
|
rs200379491
|
0.00005
|
|
NM_000070.3(CAPN3):c.835T>C (p.Ser279Pro)
|
rs755930521
|
0.00005
|
|
NM_000231.3(SGCG):c.414A>G (p.Gln138=)
|
rs770596449
|
0.00005
|
|
NM_000232.5(SGCB):c.841G>A (p.Asp281Asn)
|
rs374923265
|
0.00005
|
|
NM_000243.3(MEFV):c.1406T>C (p.Val469Ala)
|
rs778686119
|
0.00005
|
|
NM_000243.3(MEFV):c.2337G>C (p.Gly779=)
|
rs104895153
|
0.00005
|
|
NM_000243.3(MEFV):c.460T>C (p.Ser154Pro)
|
rs756975501
|
0.00005
|
|
NM_000260.4(MYO7A):c.1871C>T (p.Thr624Met)
|
rs953533173
|
0.00005
|
|
NM_000260.4(MYO7A):c.2006G>A (p.Arg669Gln)
|
rs201178011
|
0.00005
|
|
NM_000260.4(MYO7A):c.2372G>A (p.Arg791His)
|
rs782693893
|
0.00005
|
|
NM_000260.4(MYO7A):c.2601C>T (p.Leu867=)
|
rs782554940
|
0.00005
|
|
NM_000260.4(MYO7A):c.268C>T (p.Arg90Trp)
|
rs781834630
|
0.00005
|
|
NM_000260.4(MYO7A):c.3134T>C (p.Ile1045Thr)
|
rs377326213
|
0.00005
|
|
NM_000260.4(MYO7A):c.341A>G (p.Tyr114Cys)
|
rs782587841
|
0.00005
|
|
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln)
|
rs111033178
|
0.00005
|
|
NM_000260.4(MYO7A):c.4040G>A (p.Arg1347His)
|
rs756324342
|
0.00005
|
|
NM_000260.4(MYO7A):c.4735G>A (p.Glu1579Lys)
|
rs374766654
|
0.00005
|
|
NM_000260.4(MYO7A):c.4804C>T (p.Arg1602Trp)
|
rs373048784
|
0.00005
|
|
NM_000260.4(MYO7A):c.5169-6C>T
|
rs768594224
|
0.00005
|
|
NM_000260.4(MYO7A):c.5380G>A (p.Glu1794Lys)
|
rs762836180
|
0.00005
|
|
NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly)
|
rs111033486
|
0.00005
|
|
NM_000260.4(MYO7A):c.6632C>T (p.Ser2211Phe)
|
rs373957005
|
0.00005
|
|
NM_000271.5(NPC1):c.956-10G>A
|
rs755660832
|
0.00005
|
|
NM_000277.3(PAH):c.1162G>A (p.Val388Met)
|
rs62516101
|
0.00005
|
|
NM_000287.4(PEX6):c.1387A>G (p.Thr463Ala)
|
rs182308788
|
0.00005
|
|
NM_000287.4(PEX6):c.1613G>A (p.Arg538His)
|
rs559048081
|
0.00005
|
|
NM_000287.4(PEX6):c.2662C>T (p.Arg888Cys)
|
rs148251960
|
0.00005
|
|
NM_000287.4(PEX6):c.2891dup (p.Gln965fs)
|
rs753862792
|
0.00005
|
|
NM_000317.3(PTS):c.132C>T (p.Asn44=)
|
rs763556416
|
0.00005
|
|
NM_000317.3(PTS):c.318G>A (p.Thr106=)
|
rs568878711
|
0.00005
|
|
NM_000360.4(TH):c.110G>A (p.Arg37His)
|
rs368122376
|
0.00005
|
|
NM_000360.4(TH):c.192C>T (p.Pro64=)
|
rs767080132
|
0.00005
|
|
NM_000360.4(TH):c.19A>C (p.Thr7Pro)
|
rs768150949
|
0.00005
|
|
NM_000360.4(TH):c.678C>T (p.Ala226=)
|
rs139619260
|
0.00005
|
|
NM_000360.4(TH):c.71A>G (p.Lys24Arg)
|
rs768206231
|
0.00005
|
|
NM_000441.2(SLC26A4):c.165-1G>A
|
rs759792660
|
0.00005
|
|
NM_000441.2(SLC26A4):c.2174_2177dup (p.Leu727fs)
|
rs1421964916
|
0.00005
|
|
NM_000441.2(SLC26A4):c.2242C>G (p.Leu748Val)
|
rs727504813
|
0.00005
|
|
NM_000466.3(PEX1):c.1441G>A (p.Val481Ile)
|
rs139919229
|
0.00005
|
|
NM_000466.3(PEX1):c.147G>A (p.Val49=)
|
rs202230667
|
0.00005
|
|
NM_000466.3(PEX1):c.2953C>T (p.Arg985Cys)
|
rs371988432
|
0.00005
|
|
NM_000466.3(PEX1):c.305C>A (p.Ser102Tyr)
|
rs143369243
|
0.00005
|
|
NM_000466.3(PEX1):c.3623G>A (p.Arg1208Gln)
|
rs767337582
|
0.00005
|
|
NM_000492.4(CFTR):c.1691A>G (p.Lys564Arg)
|
rs375325315
|
0.00005
|
|
NM_000492.4(CFTR):c.2042A>T (p.Glu681Val)
|
rs201295415
|
0.00005
|
|
NM_000492.4(CFTR):c.2450G>T (p.Gly817Val)
|
rs148604667
|
0.00005
|
|
NM_000492.4(CFTR):c.2475C>T (p.Asn825=)
|
rs746961486
|
0.00005
|
|
NM_000492.4(CFTR):c.3204C>T (p.Phe1068=)
|
rs1800116
|
0.00005
|
|
NM_000525.4(KCNJ11):c.894C>T (p.Thr298=)
|
rs933392379
|
0.00005
|
|
NM_000543.5(SMPD1):c.1764G>A (p.Thr588=)
|
rs774989668
|
0.00005
|
|
NM_000784.4(CYP27A1):c.1152G>A (p.Pro384=)
|
rs373428306
|
0.00005
|
|
NM_000784.4(CYP27A1):c.472C>T (p.Arg158Cys)
|
rs774541162
|
0.00005
|
|
NM_001017420.3(ESCO2):c.393C>T (p.Val131=)
|
rs552661510
|
0.00005
|
|
NM_001122769.3(LCA5):c.280C>T (p.Arg94Trp)
|
rs771098708
|
0.00005
|
|
NM_001127671.2(LIFR):c.2529A>G (p.Pro843=)
|
rs779533679
|
0.00005
|
|
NM_001130987.2(DYSF):c.1033C>T (p.Arg345Trp)
|
rs755046419
|
0.00005
|
|
NM_001130987.2(DYSF):c.132C>A (p.Asn44Lys)
|
rs772240035
|
0.00005
|
|
NM_001130987.2(DYSF):c.2167G>A (p.Val723Met)
|
rs182450244
|
0.00005
|
|
NM_001130987.2(DYSF):c.3114G>A (p.Pro1038=)
|
rs398123778
|
0.00005
|
|
NM_001130987.2(DYSF):c.4279C>T (p.Arg1427Cys)
|
rs138097846
|
0.00005
|
|
NM_001130987.2(DYSF):c.4702C>T (p.Arg1568Trp)
|
rs375698433
|
0.00005
|
|
NM_001130987.2(DYSF):c.4821C>T (p.His1607=)
|
rs771742780
|
0.00005
|
|
NM_001130987.2(DYSF):c.4970A>G (p.Tyr1657Cys)
|
rs759505768
|
0.00005
|
|
NM_001130987.2(DYSF):c.6086A>G (p.Glu2029Gly)
|
rs773799968
|
0.00005
|
|
NM_001130987.2(DYSF):c.6096dup (p.Glu2033fs)
|
rs398123799
|
0.00005
|
|
NM_001130987.2(DYSF):c.6238C>T (p.Arg2080Trp)
|
rs200990851
|
0.00005
|
|
NM_001378454.1(ALMS1):c.11548-3T>C
|
rs555547573
|
0.00005
|
|
NM_001378454.1(ALMS1):c.12310A>G (p.Ile4104Val)
|
rs780286947
|
0.00005
|
|
NM_001378454.1(ALMS1):c.2629A>G (p.Asn877Asp)
|
rs776351580
|
0.00005
|
|
NM_001378454.1(ALMS1):c.3088T>A (p.Ser1030Thr)
|
rs1023974968
|
0.00005
|
|
NM_001378454.1(ALMS1):c.4173C>A (p.Phe1391Leu)
|
rs370406004
|
0.00005
|
|
NM_001378454.1(ALMS1):c.5074C>T (p.Pro1692Ser)
|
rs764039432
|
0.00005
|
|
NM_001378454.1(ALMS1):c.558C>T (p.Asp186=)
|
rs370228166
|
0.00005
|
|
NM_001378454.1(ALMS1):c.6299A>T (p.Lys2100Ile)
|
rs373286582
|
0.00005
|
|
NM_001378454.1(ALMS1):c.8918C>T (p.Ala2973Val)
|
rs202110907
|
0.00005
|
|
NM_001378454.1(ALMS1):c.8961T>A (p.Leu2987=)
|
rs201937708
|
0.00005
|
|
NM_001378454.1(ALMS1):c.9733G>A (p.Ala3245Thr)
|
rs200432874
|
0.00005
|
|
NM_001378454.1(ALMS1):c.9769C>T (p.Arg3257Cys)
|
rs373998843
|
0.00005
|
|
NM_001384140.1(PCDH15):c.1213C>T (p.Leu405=)
|
rs200170358
|
0.00005
|
|
NM_001384140.1(PCDH15):c.131T>C (p.Val44Ala)
|
rs750302536
|
0.00005
|
|
NM_001384140.1(PCDH15):c.2026C>T (p.Leu676=)
|
rs746162109
|
0.00005
|
|
NM_001384140.1(PCDH15):c.3131C>T (p.Pro1044Leu)
|
rs397517455
|
0.00005
|
|
NM_001384140.1(PCDH15):c.3206A>G (p.Tyr1069Cys)
|
rs775952226
|
0.00005
|
|
NM_001384140.1(PCDH15):c.3592G>A (p.Glu1198Lys)
|
rs781603185
|
0.00005
|
|
NM_001384140.1(PCDH15):c.734G>A (p.Arg245Gln)
|
rs562377533
|
0.00005
|
|
NM_001384474.1(LOXHD1):c.1844G>A (p.Arg615Gln)
|
rs546893082
|
0.00005
|
|
NM_001384474.1(LOXHD1):c.3219A>G (p.Thr1073=)
|
rs748419853
|
0.00005
|
|
NM_001384474.1(LOXHD1):c.4068G>A (p.Arg1356=)
|
rs539688337
|
0.00005
|
|
NM_001384474.1(LOXHD1):c.5357A>G (p.Asn1786Ser)
|
rs192929296
|
0.00005
|
|
NM_001386140.1(MTTP):c.173G>A (p.Arg58His)
|
rs201464944
|
0.00005
|
|
NM_001386140.1(MTTP):c.1876C>T (p.Arg626Cys)
|
rs148696330
|
0.00005
|
|
NM_001692.4(ATP6V1B1):c.189G>A (p.Ala63=)
|
rs376581983
|
0.00005
|
|
NM_002454.3(MTRR):c.346C>A (p.Gln116Lys)
|
rs202110383
|
0.00005
|
|
NM_002454.3(MTRR):c.503C>T (p.Pro168Leu)
|
rs757635349
|
0.00005
|
|
NM_002485.5(NBN):c.1280C>G (p.Pro427Arg)
|
rs778881191
|
0.00005
|
|
NM_002485.5(NBN):c.1457C>T (p.Ser486Phe)
|
rs572568222
|
0.00005
|
|
NM_002485.5(NBN):c.52C>A (p.Leu18Ile)
|
rs587781939
|
0.00005
|
|
NM_002485.5(NBN):c.664T>C (p.Phe222Leu)
|
rs541992192
|
0.00005
|
|
NM_002617.4(PEX10):c.547T>G (p.Tyr183Asp)
|
rs780485807
|
0.00005
|
|
NM_002617.4(PEX10):c.640C>T (p.Arg214Cys)
|
rs536486149
|
0.00005
|
|
NM_004004.6(GJB2):c.-22-18T>A
|
rs778602324
|
0.00005
|
|
NM_006019.4(TCIRG1):c.1437C>T (p.Ala479=)
|
rs201800548
|
0.00005
|
|
NM_006019.4(TCIRG1):c.2344G>A (p.Val782Met)
|
rs779910642
|
0.00005
|
|
NM_006019.4(TCIRG1):c.477G>A (p.Gly159=)
|
rs746159308
|
0.00005
|
|
NM_006019.4(TCIRG1):c.763G>A (p.Gly255Arg)
|
rs376201635
|
0.00005
|
|
NM_006019.4(TCIRG1):c.903C>T (p.Ala301=)
|
rs773632286
|
0.00005
|
|
NM_006118.4(HAX1):c.676C>T (p.Arg226Cys)
|
rs765780829
|
0.00005
|
|
NM_006118.4(HAX1):c.835C>T (p.Arg279Trp)
|
rs780000169
|
0.00005
|
|
NM_007259.5(VPS45):c.577-5C>T
|
rs1266646389
|
0.00005
|
|
NM_007259.5(VPS45):c.687G>C (p.Gln229His)
|
rs200019200
|
0.00005
|
|
NM_007259.5(VPS45):c.939G>A (p.Ala313=)
|
rs142461153
|
0.00005
|
|
NM_014363.6(SACS):c.10980C>T (p.Pro3660=)
|
rs141353693
|
0.00005
|
|
NM_014363.6(SACS):c.1152T>G (p.Thr384=)
|
rs185643322
|
0.00005
|
|
NM_014363.6(SACS):c.11884A>T (p.Ile3962Leu)
|
rs746953932
|
0.00005
|
|
NM_014363.6(SACS):c.3729A>G (p.Glu1243=)
|
rs756663705
|
0.00005
|
|
NM_014363.6(SACS):c.396A>G (p.Leu132=)
|
rs1256540997
|
0.00005
|
|
NM_014363.6(SACS):c.5147A>G (p.Lys1716Arg)
|
rs199998045
|
0.00005
|
|
NM_014363.6(SACS):c.51C>T (p.Cys17=)
|
rs763979020
|
0.00005
|
|
NM_014363.6(SACS):c.6349G>A (p.Glu2117Lys)
|
rs754033201
|
0.00005
|
|
NM_015474.4(SAMHD1):c.114C>G (p.Leu38=)
|
rs757642528
|
0.00005
|
|
NM_022124.6(CDH23):c.1410C>T (p.Tyr470=)
|
rs549569431
|
0.00005
|
|
NM_022124.6(CDH23):c.158C>A (p.Thr53Asn)
|
rs761428295
|
0.00005
|
|
NM_022124.6(CDH23):c.1618G>A (p.Gly540Ser)
|
rs371116044
|
0.00005
|
|
NM_022124.6(CDH23):c.1751G>A (p.Arg584Gln)
|
rs776970952
|
0.00005
|
|
NM_022124.6(CDH23):c.2419C>T (p.Leu807=)
|
rs748582000
|
0.00005
|
|
NM_022124.6(CDH23):c.2536G>A (p.Asp846Asn)
|
rs372807578
|
0.00005
|
|
NM_022124.6(CDH23):c.2875G>A (p.Ala959Thr)
|
rs200196800
|
0.00005
|
|
NM_022124.6(CDH23):c.30C>T (p.His10=)
|
rs572955107
|
0.00005
|
|
NM_022124.6(CDH23):c.3106+11G>A
|
rs759689776
|
0.00005
|
|
NM_022124.6(CDH23):c.3248C>T (p.Thr1083Met)
|
rs756165682
|
0.00005
|
|
NM_022124.6(CDH23):c.330C>T (p.His110=)
|
rs201232514
|
0.00005
|
|
NM_022124.6(CDH23):c.4854G>A (p.Thr1618=)
|
rs376538879
|
0.00005
|
|
NM_022124.6(CDH23):c.5248G>A (p.Gly1750Arg)
|
rs372822465
|
0.00005
|
|
NM_022124.6(CDH23):c.5796G>A (p.Pro1932=)
|
rs370965108
|
0.00005
|
|
NM_022124.6(CDH23):c.7114G>A (p.Val2372Met)
|
rs550770402
|
0.00005
|
|
NM_022124.6(CDH23):c.7613A>G (p.Glu2538Gly)
|
rs371064571
|
0.00005
|
|
NM_022124.6(CDH23):c.7838G>A (p.Arg2613His)
|
rs768688999
|
0.00005
|
|
NM_022124.6(CDH23):c.8065-5C>A
|
rs561693723
|
0.00005
|
|
NM_022124.6(CDH23):c.8913C>T (p.Phe2971=)
|
rs915502924
|
0.00005
|
|
NM_022124.6(CDH23):c.9170G>A (p.Arg3057Gln)
|
rs372141384
|
0.00005
|
|
NM_022124.6(CDH23):c.9955G>A (p.Glu3319Lys)
|
rs771858198
|
0.00005
|
|
NM_024301.5(FKRP):c.1270A>C (p.Asn424His)
|
rs769568971
|
0.00005
|
|
NM_024301.5(FKRP):c.1427G>A (p.Gly476Glu)
|
rs375326964
|
0.00005
|
|
NM_024301.5(FKRP):c.295G>A (p.Val99Met)
|
rs776733780
|
0.00005
|
|
NM_024649.5(BBS1):c.1036G>A (p.Val346Ile)
|
rs201872547
|
0.00005
|
|
NM_024649.5(BBS1):c.1773G>A (p.Ala591=)
|
rs147783319
|
0.00005
|
|
NM_024649.5(BBS1):c.751C>G (p.Leu251Val)
|
rs951217740
|
0.00005
|
|
NM_024649.5(BBS1):c.901G>A (p.Val301Ile)
|
rs1037134217
|
0.00005
|
|
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp)
|
rs768933093
|
0.00005
|
|
NM_024685.4(BBS10):c.1490A>T (p.Asp497Val)
|
rs753629989
|
0.00005
|
|
NM_025114.4(CEP290):c.1105G>A (p.Glu369Lys)
|
rs373414042
|
0.00005
|
|
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter)
|
rs386834152
|
0.00005
|
|
NM_025114.4(CEP290):c.2638G>T (p.Ala880Ser)
|
rs147362398
|
0.00005
|
|
NM_025114.4(CEP290):c.998A>C (p.Asn333Thr)
|
rs376033047
|
0.00005
|
|
NM_025216.3(WNT10A):c.205C>T (p.Arg69Trp)
|
rs200487809
|
0.00005
|
|
NM_031885.5(BBS2):c.1909A>T (p.Met637Leu)
|
rs967941621
|
0.00005
|
|
NM_033056.4(PCDH15):c.4925G>A (p.Gly1642Asp)
|
rs745335831
|
0.00005
|
|
NM_033056.4(PCDH15):c.5318C>G (p.Pro1773Arg)
|
rs745583797
|
0.00005
|
|
NM_033056.4(PCDH15):c.5408C>T (p.Ser1803Phe)
|
rs747584616
|
0.00005
|
|
NM_033056.4(PCDH15):c.5510C>T (p.Ser1837Phe)
|
rs140047846
|
0.00005
|
|
NM_138694.4(PKHD1):c.11224G>A (p.Ala3742Thr)
|
rs557211301
|
0.00005
|
|
NM_138694.4(PKHD1):c.11607C>T (p.Ala3869=)
|
rs752509045
|
0.00005
|
|
NM_138694.4(PKHD1):c.161A>G (p.Asn54Ser)
|
rs374566843
|
0.00005
|
|
NM_138694.4(PKHD1):c.1772C>G (p.Pro591Arg)
|
rs201824369
|
0.00005
|
|
NM_138694.4(PKHD1):c.217C>T (p.Arg73Trp)
|
rs567357782
|
0.00005
|
|
NM_138694.4(PKHD1):c.2184G>A (p.Leu728=)
|
rs926797825
|
0.00005
|
|
NM_138694.4(PKHD1):c.3183C>T (p.Val1061=)
|
rs759939735
|
0.00005
|
|
NM_138694.4(PKHD1):c.3368G>A (p.Gly1123Asp)
|
rs148356158
|
0.00005
|
|
NM_138694.4(PKHD1):c.49G>T (p.Ala17Ser)
|
rs149293970
|
0.00005
|
|
NM_138694.4(PKHD1):c.9689del (p.Asp3230fs)
|
rs398124502
|
0.00005
|
|
NM_152443.3(RDH12):c.278T>C (p.Leu93Pro)
|
rs527800020
|
0.00005
|
|
NM_152443.3(RDH12):c.313A>G (p.Ile105Val)
|
rs371493398
|
0.00005
|
|
NM_152443.3(RDH12):c.590G>T (p.Gly197Val)
|
rs867284235
|
0.00005
|
|
NM_152618.3(BBS12):c.140G>A (p.Ser47Asn)
|
rs149473445
|
0.00005
|
|
NM_152618.3(BBS12):c.152G>C (p.Ser51Thr)
|
rs762558855
|
0.00005
|
|
NM_153676.4(USH1C):c.2310C>T (p.Gly770=)
|
rs375492038
|
0.00005
|
|
NM_153676.4(USH1C):c.2362G>A (p.Gly788Arg)
|
rs199729381
|
0.00005
|
|
NM_153676.4(USH1C):c.592A>T (p.Ser198Cys)
|
rs141771249
|
0.00005
|
|
NM_153717.3(EVC):c.107C>G (p.Ala36Gly)
|
rs1219807707
|
0.00005
|
|
NM_153717.3(EVC):c.312G>A (p.Pro104=)
|
rs763930196
|
0.00005
|
|
NM_174878.3(CLRN1):c.20A>T (p.Lys7Ile)
|
rs3796241
|
0.00005
|
|
NM_174878.3(CLRN1):c.322C>T (p.Leu108Phe)
|
rs144691725
|
0.00005
|
|
NM_201253.3(CRB1):c.3852G>A (p.Met1284Ile)
|
rs938864433
|
0.00005
|
|
NM_201253.3(CRB1):c.447C>T (p.His149=)
|
rs576678571
|
0.00005
|
|
NM_201253.3(CRB1):c.863G>T (p.Cys288Phe)
|
rs148240351
|
0.00005
|
|
NM_206933.4(USH2A):c.10426A>C (p.Ile3476Leu)
|
rs1038876830
|
0.00005
|
|
NM_206933.4(USH2A):c.11443A>G (p.Ser3815Gly)
|
rs149527139
|
0.00005
|
|
NM_206933.4(USH2A):c.11821C>T (p.Arg3941Trp)
|
rs749942414
|
0.00005
|
|
NM_206933.4(USH2A):c.1346G>A (p.Arg449His)
|
rs766715882
|
0.00005
|
|
NM_206933.4(USH2A):c.14073C>T (p.Asn4691=)
|
rs370364142
|
0.00005
|
|
NM_206933.4(USH2A):c.14419G>A (p.Ala4807Thr)
|
rs534656527
|
0.00005
|
|
NM_206933.4(USH2A):c.14557A>G (p.Met4853Val)
|
rs753594462
|
0.00005
|
|
NM_206933.4(USH2A):c.14760C>T (p.Ser4920=)
|
rs778669346
|
0.00005
|
|
NM_206933.4(USH2A):c.15249G>C (p.Gln5083His)
|
rs768977235
|
0.00005
|
|
NM_206933.4(USH2A):c.1731C>T (p.Cys577=)
|
rs41313732
|
0.00005
|
|
NM_206933.4(USH2A):c.1816G>C (p.Asp606His)
|
rs111033410
|
0.00005
|
|
NM_206933.4(USH2A):c.7540A>C (p.Asn2514His)
|
rs777618162
|
0.00005
|
|
NM_206933.4(USH2A):c.7839G>T (p.Glu2613Asp)
|
rs568902534
|
0.00005
|
|
NM_206933.4(USH2A):c.8631C>G (p.His2877Gln)
|
rs954532372
|
0.00005
|
|
NM_206933.4(USH2A):c.9110G>A (p.Arg3037His)
|
rs533700989
|
0.00005
|
|
NM_206933.4(USH2A):c.9201T>C (p.Asn3067=)
|
rs764236480
|
0.00005
|
|
NM_206933.4(USH2A):c.9286G>A (p.Val3096Met)
|
rs147267500
|
0.00005
|
|
NM_206933.4(USH2A):c.9460G>A (p.Ala3154Thr)
|
rs150266899
|
0.00005
|
|
NR_003051.4(RMRP):n.137C>T
|
rs940224067
|
0.00005
|
|
NR_003051.4(RMRP):n.139C>T
|
rs928825069
|
0.00005
|
|
NR_003051.4(RMRP):n.229C>T
|
rs560328768
|
0.00005
|
|
NR_003051.4(RMRP):n.36A>G
|
rs572081363
|
0.00005
|
|
NM_000019.4(ACAT1):c.1279C>A (p.Leu427Met)
|
rs201500937
|
0.00004
|
|
NM_000019.4(ACAT1):c.384A>G (p.Ser128=)
|
rs374439037
|
0.00004
|
|
NM_000019.4(ACAT1):c.637G>A (p.Ala213Thr)
|
rs772087249
|
0.00004
|
|
NM_000019.4(ACAT1):c.770A>C (p.Lys257Thr)
|
rs370652435
|
0.00004
|
|
NM_000019.4(ACAT1):c.918T>A (p.Val306=)
|
rs200318899
|
0.00004
|
|
NM_000023.4(SGCA):c.1053C>T (p.Arg351=)
|
rs148373921
|
0.00004
|
|
NM_000023.4(SGCA):c.869C>T (p.Ala290Val)
|
rs373312721
|
0.00004
|
|
NM_000023.4(SGCA):c.90A>G (p.Pro30=)
|
rs754840688
|
0.00004
|
|
NM_000057.4(BLM):c.1415C>A (p.Thr472Asn)
|
rs368967327
|
0.00004
|
|
NM_000057.4(BLM):c.201T>C (p.Val67=)
|
rs563887813
|
0.00004
|
|
NM_000057.4(BLM):c.226C>A (p.Pro76Thr)
|
rs768843912
|
0.00004
|
|
NM_000057.4(BLM):c.2371C>T (p.Arg791Cys)
|
rs55880859
|
0.00004
|
|
NM_000057.4(BLM):c.2432A>G (p.Tyr811Cys)
|
rs145029382
|
0.00004
|
|
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter)
|
rs587779884
|
0.00004
|
|
NM_000057.4(BLM):c.2696G>A (p.Arg899Gln)
|
rs748054605
|
0.00004
|
|
NM_000057.4(BLM):c.2721G>A (p.Thr907=)
|
rs1009065257
|
0.00004
|
|
NM_000057.4(BLM):c.2950G>A (p.Gly984Arg)
|
rs755784410
|
0.00004
|
|
NM_000057.4(BLM):c.3031G>A (p.Gly1011Arg)
|
rs370073229
|
0.00004
|
|
NM_000057.4(BLM):c.3117A>G (p.Ile1039Met)
|
rs576199850
|
0.00004
|
|
NM_000057.4(BLM):c.3210+2dup
|
rs755232267
|
0.00004
|
|
NM_000057.4(BLM):c.3872C>T (p.Pro1291Leu)
|
rs373003917
|
0.00004
|
|
NM_000057.4(BLM):c.4061G>C (p.Gly1354Ala)
|
rs891751726
|
0.00004
|
|
NM_000057.4(BLM):c.4102T>A (p.Ser1368Thr)
|
rs587778104
|
0.00004
|
|
NM_000057.4(BLM):c.451A>G (p.Ile151Val)
|
rs780472557
|
0.00004
|
|
NM_000057.4(BLM):c.457G>C (p.Asp153His)
|
rs368158276
|
0.00004
|
|
NM_000057.4(BLM):c.724C>T (p.Pro242Ser)
|
rs768513523
|
0.00004
|
|
NM_000057.4(BLM):c.847A>G (p.Thr283Ala)
|
rs149598003
|
0.00004
|
|
NM_000057.4(BLM):c.98C>T (p.Ser33Leu)
|
rs139282091
|
0.00004
|
|
NM_000070.3(CAPN3):c.1001A>T (p.His334Leu)
|
rs749863676
|
0.00004
|
|
NM_000070.3(CAPN3):c.1292T>C (p.Val431Ala)
|
rs199625801
|
0.00004
|
|
NM_000070.3(CAPN3):c.1553A>G (p.Gln518Arg)
|
rs764593698
|
0.00004
|
|
NM_000070.3(CAPN3):c.1557C>T (p.His519=)
|
rs368385372
|
0.00004
|
|
NM_000070.3(CAPN3):c.1714C>T (p.Arg572Trp)
|
rs863224959
|
0.00004
|
|
NM_000070.3(CAPN3):c.1964G>A (p.Arg655Gln)
|
rs1049698745
|
0.00004
|
|
NM_000070.3(CAPN3):c.2040C>T (p.Val680=)
|
rs200583904
|
0.00004
|
|
NM_000070.3(CAPN3):c.2081T>G (p.Leu694Arg)
|
rs1355979542
|
0.00004
|
|
NM_000070.3(CAPN3):c.2093G>A (p.Arg698His)
|
rs190793093
|
0.00004
|
|
NM_000070.3(CAPN3):c.2184+3G>A
|
rs771917810
|
0.00004
|
|
NM_000070.3(CAPN3):c.2359G>A (p.Val787Ile)
|
rs755736723
|
0.00004
|
|
NM_000070.3(CAPN3):c.349A>C (p.Asn117His)
|
rs1011699008
|
0.00004
|
|
NM_000070.3(CAPN3):c.821A>G (p.Tyr274Cys)
|
rs138914944
|
0.00004
|
|
NM_000231.3(SGCG):c.371G>T (p.Gly124Val)
|
rs183204936
|
0.00004
|
|
NM_000231.3(SGCG):c.439G>A (p.Gly147Ser)
|
rs374836520
|
0.00004
|
|
NM_000231.3(SGCG):c.670A>G (p.Met224Val)
|
rs372188878
|
0.00004
|
|
NM_000231.3(SGCG):c.784T>C (p.Tyr262His)
|
rs776357413
|
0.00004
|
|
NM_000232.5(SGCB):c.1_2del (p.Met1fs)
|
rs886042503
|
0.00004
|
|
NM_000232.5(SGCB):c.715A>G (p.Ile239Val)
|
rs868151547
|
0.00004
|
|
NM_000232.5(SGCB):c.838G>A (p.Gly280Ser)
|
rs879945095
|
0.00004
|
|
NM_000243.3(MEFV):c.1060C>T (p.Arg354Trp)
|
rs104895116
|
0.00004
|
|
NM_000243.3(MEFV):c.1337A>C (p.Glu446Ala)
|
rs749651486
|
0.00004
|
|
NM_000243.3(MEFV):c.1527C>T (p.Leu509=)
|
rs571832030
|
0.00004
|
|
NM_000243.3(MEFV):c.1532C>T (p.Ala511Val)
|
rs144270019
|
0.00004
|
|
NM_000243.3(MEFV):c.1957C>T (p.Arg653Cys)
|
rs375716505
|
0.00004
|
|
NM_000243.3(MEFV):c.2109C>T (p.Ser703=)
|
rs104895118
|
0.00004
|
|
NM_000243.3(MEFV):c.2111T>G (p.Val704Gly)
|
rs748891586
|
0.00004
|
|
NM_000243.3(MEFV):c.2117C>T (p.Pro706Leu)
|
rs202174893
|
0.00004
|
|
NM_000243.3(MEFV):c.277G>C (p.Glu93Gln)
|
rs138498376
|
0.00004
|
|
NM_000243.3(MEFV):c.311C>G (p.Ser104Cys)
|
rs151306047
|
0.00004
|
|
NM_000243.3(MEFV):c.487G>C (p.Glu163Gln)
|
rs759918824
|
0.00004
|
|
NM_000243.3(MEFV):c.611G>A (p.Arg204His)
|
rs775663363
|
0.00004
|
|
NM_000243.3(MEFV):c.775A>G (p.Ile259Val)
|
rs104895144
|
0.00004
|
|
NM_000243.3(MEFV):c.941G>A (p.Arg314His)
|
rs104895204
|
0.00004
|
|
NM_000243.3(MEFV):c.948C>T (p.His316=)
|
rs150252937
|
0.00004
|
|
NM_000243.3(MEFV):c.973G>A (p.Gly325Ser)
|
rs146862274
|
0.00004
|
|
NM_000260.4(MYO7A):c.1232T>C (p.Val411Ala)
|
rs369916141
|
0.00004
|
|
NM_000260.4(MYO7A):c.160A>G (p.Thr54Ala)
|
rs369142107
|
0.00004
|
|
NM_000260.4(MYO7A):c.1619C>A (p.Pro540His)
|
rs782607566
|
0.00004
|
|
NM_000260.4(MYO7A):c.1852C>G (p.Leu618Val)
|
rs1450279958
|
0.00004
|
|
NM_000260.4(MYO7A):c.19-3T>C
|
rs572658145
|
0.00004
|
|
NM_000260.4(MYO7A):c.1901G>A (p.Arg634Gln)
|
rs781812509
|
0.00004
|
|
NM_000260.4(MYO7A):c.1996C>T (p.Arg666Ter)
|
rs121965085
|
0.00004
|
|
NM_000260.4(MYO7A):c.225C>A (p.Asp75Glu)
|
rs782757893
|
0.00004
|
|
NM_000260.4(MYO7A):c.2267G>A (p.Arg756Gln)
|
rs782719957
|
0.00004
|
|
NM_000260.4(MYO7A):c.2307C>T (p.Asn769=)
|
rs782329400
|
0.00004
|
|
NM_000260.4(MYO7A):c.2489G>A (p.Arg830His)
|
rs371029653
|
0.00004
|
|
NM_000260.4(MYO7A):c.2507G>A (p.Arg836His)
|
rs782179888
|
0.00004
|
|
NM_000260.4(MYO7A):c.2597G>A (p.Arg866His)
|
rs199607235
|
0.00004
|
|
NM_000260.4(MYO7A):c.2762G>A (p.Arg921Gln)
|
rs782498923
|
0.00004
|
|
NM_000260.4(MYO7A):c.3277G>A (p.Glu1093Lys)
|
rs782403609
|
0.00004
|
|
NM_000260.4(MYO7A):c.3508G>A (p.Glu1170Lys)
|
rs111033214
|
0.00004
|
|
NM_000260.4(MYO7A):c.3750+8C>T
|
rs930330204
|
0.00004
|
|
NM_000260.4(MYO7A):c.3855C>T (p.Asn1285=)
|
rs750763506
|
0.00004
|
|
NM_000260.4(MYO7A):c.3865G>A (p.Asp1289Asn)
|
rs371221562
|
0.00004
|
|
NM_000260.4(MYO7A):c.4018G>A (p.Ala1340Thr)
|
rs376291076
|
0.00004
|
|
NM_000260.4(MYO7A):c.4019C>T (p.Ala1340Val)
|
rs370330847
|
0.00004
|
|
NM_000260.4(MYO7A):c.4280C>T (p.Thr1427Met)
|
rs547006116
|
0.00004
|
|
NM_000260.4(MYO7A):c.444C>T (p.Asn148=)
|
rs1253765162
|
0.00004
|
|
NM_000260.4(MYO7A):c.4768A>G (p.Ile1590Val)
|
rs761363022
|
0.00004
|
|
NM_000260.4(MYO7A):c.4844C>T (p.Pro1615Leu)
|
rs201321140
|
0.00004
|
|
NM_000260.4(MYO7A):c.5080G>A (p.Val1694Ile)
|
rs113966094
|
0.00004
|
|
NM_000260.4(MYO7A):c.5095C>G (p.Gln1699Glu)
|
rs530520654
|
0.00004
|
|
NM_000260.4(MYO7A):c.5109G>A (p.Ala1703=)
|
rs374162462
|
0.00004
|
|
NM_000260.4(MYO7A):c.5300C>T (p.Ser1767Leu)
|
rs757896867
|
0.00004
|
|
NM_000260.4(MYO7A):c.5388C>T (p.Thr1796=)
|
rs372062718
|
0.00004
|
|
NM_000260.4(MYO7A):c.5466C>T (p.Thr1822=)
|
rs548620787
|
0.00004
|
|
NM_000260.4(MYO7A):c.548C>T (p.Ser183Leu)
|
rs781893704
|
0.00004
|
|
NM_000260.4(MYO7A):c.54G>C (p.Gln18His)
|
rs371849195
|
0.00004
|
|
NM_000260.4(MYO7A):c.5648G>A (p.Arg1883Gln)
|
rs111033215
|
0.00004
|
|
NM_000260.4(MYO7A):c.5667G>A (p.Leu1889=)
|
rs747516555
|
0.00004
|
|
NM_000260.4(MYO7A):c.6181C>T (p.Arg2061Trp)
|
rs780940577
|
0.00004
|
|
NM_000260.4(MYO7A):c.61G>A (p.Asp21Asn)
|
rs782546306
|
0.00004
|
|
NM_000260.4(MYO7A):c.6346G>A (p.Glu2116Lys)
|
rs781592754
|
0.00004
|
|
NM_000260.4(MYO7A):c.6426T>A (p.Asp2142Glu)
|
rs374575441
|
0.00004
|
|
NM_000260.4(MYO7A):c.700C>T (p.Gln234Ter)
|
rs41298133
|
0.00004
|
|
NM_000271.5(NPC1):c.1115G>A (p.Arg372Gln)
|
rs150053420
|
0.00004
|
|
NM_000271.5(NPC1):c.123T>C (p.Asn41=)
|
rs777848348
|
0.00004
|
|
NM_000271.5(NPC1):c.2692G>A (p.Asp898Asn)
|
rs528841924
|
0.00004
|
|
NM_000271.5(NPC1):c.3059G>C (p.Ser1020Thr)
|
rs374719153
|
0.00004
|
|
NM_000271.5(NPC1):c.3560C>T (p.Ala1187Val)
|
rs113371321
|
0.00004
|
|
NM_000277.3(PAH):c.1010G>A (p.Gly337Glu)
|
rs62517206
|
0.00004
|
|
NM_000277.3(PAH):c.1223G>A (p.Arg408Gln)
|
rs5030859
|
0.00004
|
|
NM_000277.3(PAH):c.331C>T (p.Arg111Ter)
|
rs76296470
|
0.00004
|
|
NM_000277.3(PAH):c.420G>A (p.Ala140=)
|
rs200366386
|
0.00004
|
|
NM_000277.3(PAH):c.472C>T (p.Arg158Trp)
|
rs75166491
|
0.00004
|
|
NM_000277.3(PAH):c.727C>T (p.Arg243Ter)
|
rs5030846
|
0.00004
|
|
NM_000277.3(PAH):c.842+1G>A
|
rs5030852
|
0.00004
|
|
NM_000287.4(PEX6):c.1150A>C (p.Lys384Gln)
|
rs769388552
|
0.00004
|
|
NM_000287.4(PEX6):c.2357G>A (p.Arg786Gln)
|
rs758572546
|
0.00004
|
|
NM_000287.4(PEX6):c.2736G>A (p.Ala912=)
|
rs202049230
|
0.00004
|
|
NM_000287.4(PEX6):c.2924G>T (p.Arg975Leu)
|
rs757254854
|
0.00004
|
|
NM_000287.4(PEX6):c.411G>A (p.Arg137=)
|
rs769196737
|
0.00004
|
|
NM_000287.4(PEX6):c.657G>A (p.Gln219=)
|
rs375588028
|
0.00004
|
|
NM_000318.3(PEX2):c.139G>A (p.Gly47Arg)
|
rs138590115
|
0.00004
|
|
NM_000318.3(PEX2):c.140G>C (p.Gly47Ala)
|
rs750212948
|
0.00004
|
|
NM_000318.3(PEX2):c.404T>C (p.Val135Ala)
|
rs549932565
|
0.00004
|
|
NM_000318.3(PEX2):c.705T>A (p.Asn235Lys)
|
rs747222660
|
0.00004
|
|
NM_000318.3(PEX2):c.826G>C (p.Val276Leu)
|
rs746008519
|
0.00004
|
|
NM_000329.3(RPE65):c.106C>T (p.Leu36Phe)
|
rs371586530
|
0.00004
|
|
NM_000329.3(RPE65):c.1237C>T (p.Arg413Cys)
|
rs369142161
|
0.00004
|
|
NM_000329.3(RPE65):c.131G>A (p.Arg44Gln)
|
rs61751282
|
0.00004
|
|
NM_000329.3(RPE65):c.1449T>C (p.Asp483=)
|
rs201116540
|
0.00004
|
|
NM_000329.3(RPE65):c.1559T>C (p.Ile520Thr)
|
rs281865291
|
0.00004
|
|
NM_000329.3(RPE65):c.268G>A (p.Val90Ile)
|
rs370076628
|
0.00004
|
|
NM_000329.3(RPE65):c.617T>C (p.Ile206Thr)
|
rs768445391
|
0.00004
|
|
NM_000329.3(RPE65):c.75G>A (p.Pro25=)
|
rs199529021
|
0.00004
|
|
NM_000329.3(RPE65):c.94+10G>A
|
rs777879312
|
0.00004
|
|
NM_000329.3(RPE65):c.942C>T (p.His314=)
|
rs752875512
|
0.00004
|
|
NM_000360.4(TH):c.1317C>T (p.Asp439=)
|
rs375440221
|
0.00004
|
|
NM_000360.4(TH):c.132C>T (p.Asp44=)
|
rs767310984
|
0.00004
|
|
NM_000360.4(TH):c.1382C>T (p.Pro461Leu)
|
rs767635052
|
0.00004
|
|
NM_000360.4(TH):c.1402G>A (p.Val468Met)
|
rs1800033
|
0.00004
|
|
NM_000360.4(TH):c.1470C>G (p.Ala490=)
|
rs777477661
|
0.00004
|
|
NM_000360.4(TH):c.24G>A (p.Thr8=)
|
rs529205525
|
0.00004
|
|
NM_000360.4(TH):c.304G>T (p.Val102Leu)
|
rs372077622
|
0.00004
|
|
NM_000360.4(TH):c.313-9C>T
|
rs538345855
|
0.00004
|
|
NM_000360.4(TH):c.653C>T (p.Pro218Leu)
|
rs377729019
|
0.00004
|
|
NM_000360.4(TH):c.794G>A (p.Arg265Gln)
|
rs199961079
|
0.00004
|
|
NM_000360.4(TH):c.91-818G>A
|
rs753403788
|
0.00004
|
|
NM_000360.4(TH):c.931A>G (p.Thr311Ala)
|
rs1016513333
|
0.00004
|
|
NM_000360.4(TH):c.950C>G (p.Ala317Gly)
|
rs370710158
|
0.00004
|
|
NM_000360.4(TH):c.978-3C>A
|
rs754735292
|
0.00004
|
|
NM_000370.3(TTPA):c.400C>T (p.Arg134Ter)
|
rs121917851
|
0.00004
|
|
NM_000382.3(ALDH3A2):c.1144G>A (p.Gly382Ser)
|
rs565908396
|
0.00004
|
|
NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met)
|
rs111033220
|
0.00004
|
|
NM_000441.2(SLC26A4):c.1287G>A (p.Ala429=)
|
rs778271465
|
0.00004
|
|
NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg)
|
rs756969021
|
0.00004
|
|
NM_000441.2(SLC26A4):c.2151A>C (p.Thr717=)
|
rs138361211
|
0.00004
|
|
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg)
|
rs121908362
|
0.00004
|
|
NM_000441.2(SLC26A4):c.279del (p.Ser93fs)
|
rs786204421
|
0.00004
|
|
NM_000441.2(SLC26A4):c.463A>G (p.Met155Val)
|
rs201931861
|
0.00004
|
|
NM_000441.2(SLC26A4):c.697G>C (p.Val233Leu)
|
rs397516431
|
0.00004
|
|
NM_000466.3(PEX1):c.2059C>T (p.Arg687Trp)
|
rs138008298
|
0.00004
|
|
NM_000466.3(PEX1):c.2296G>A (p.Asp766Asn)
|
rs374010060
|
0.00004
|
|
NM_000492.4(CFTR):c.1679+9C>G
|
rs775440240
|
0.00004
|
|
NM_000492.4(CFTR):c.1745C>T (p.Thr582Ile)
|
rs397508293
|
0.00004
|
|
NM_000492.4(CFTR):c.3468G>T (p.Leu1156Phe)
|
rs139729994
|
0.00004
|
|
NM_000492.4(CFTR):c.638G>A (p.Gly213Glu)
|
rs775701644
|
0.00004
|
|
NM_000525.4(KCNJ11):c.-6G>A
|
rs554874150
|
0.00004
|
|
NM_000525.4(KCNJ11):c.80G>A (p.Arg27His)
|
rs774714794
|
0.00004
|
|
NM_000543.5(SMPD1):c.1082G>A (p.Arg361His)
|
rs148892841
|
0.00004
|
|
NM_000543.5(SMPD1):c.1426C>T (p.Arg476Trp)
|
rs182812968
|
0.00004
|
|
NM_000543.5(SMPD1):c.1599G>A (p.Pro533=)
|
rs552841217
|
0.00004
|
|
NM_000543.5(SMPD1):c.472G>A (p.Ala158Thr)
|
rs369566518
|
0.00004
|
|
NM_000543.5(SMPD1):c.475T>C (p.Cys159Arg)
|
rs727504166
|
0.00004
|
|
NM_000543.5(SMPD1):c.911T>C (p.Leu304Pro)
|
rs120074124
|
0.00004
|
|
NM_000784.4(CYP27A1):c.1509G>A (p.Pro503=)
|
rs577558935
|
0.00004
|
|
NM_000784.4(CYP27A1):c.562C>T (p.Arg188Ter)
|
rs188850202
|
0.00004
|
|
NM_000784.4(CYP27A1):c.613A>G (p.Met205Val)
|
rs147321244
|
0.00004
|
|
NM_000784.4(CYP27A1):c.845-1G>A
|
rs397515353
|
0.00004
|
|
NM_001017420.3(ESCO2):c.742A>G (p.Thr248Ala)
|
rs750159862
|
0.00004
|
|
NM_001122769.3(LCA5):c.1862G>A (p.Ser621Asn)
|
rs756929736
|
0.00004
|
|
NM_001122769.3(LCA5):c.595A>G (p.Thr199Ala)
|
rs775866690
|
0.00004
|
|
NM_001122769.3(LCA5):c.705C>T (p.Thr235=)
|
rs774718880
|
0.00004
|
|
NM_001127671.2(LIFR):c.1080G>A (p.Ala360=)
|
rs769294023
|
0.00004
|
|
NM_001127671.2(LIFR):c.1171G>A (p.Glu391Lys)
|
rs373421600
|
0.00004
|
|
NM_001127671.2(LIFR):c.1974C>T (p.Val658=)
|
rs762685098
|
0.00004
|
|
NM_001127671.2(LIFR):c.2217G>A (p.Ser739=)
|
rs747295716
|
0.00004
|
|
NM_001127671.2(LIFR):c.2642C>T (p.Ala881Val)
|
rs994405607
|
0.00004
|
|
NM_001127671.2(LIFR):c.3132T>C (p.Ser1044=)
|
rs745548189
|
0.00004
|
|
NM_001130987.2(DYSF):c.1136G>A (p.Gly379Glu)
|
rs562361258
|
0.00004
|
|
NM_001130987.2(DYSF):c.1683C>T (p.Asn561=)
|
rs374809515
|
0.00004
|
|
NM_001130987.2(DYSF):c.1983C>T (p.Asp661=)
|
rs574076669
|
0.00004
|
|
NM_001130987.2(DYSF):c.1985-4C>G
|
rs374489513
|
0.00004
|
|
NM_001130987.2(DYSF):c.2148G>A (p.Ala716=)
|
rs201239189
|
0.00004
|
|
NM_001130987.2(DYSF):c.2284C>T (p.Arg762Cys)
|
rs181551438
|
0.00004
|
|
NM_001130987.2(DYSF):c.2370G>A (p.Ala790=)
|
rs553605812
|
0.00004
|
|
NM_001130987.2(DYSF):c.2510G>A (p.Arg837Gln)
|
rs748636047
|
0.00004
|
|
NM_001130987.2(DYSF):c.2820C>T (p.Ala940=)
|
rs373328706
|
0.00004
|
|
NM_001130987.2(DYSF):c.2864C>T (p.Thr955Ile)
|
rs201209494
|
0.00004
|
|
NM_001130987.2(DYSF):c.2884G>A (p.Ala962Thr)
|
rs535367520
|
0.00004
|
|
NM_001130987.2(DYSF):c.3102C>G (p.Ile1034Met)
|
rs768787171
|
0.00004
|
|
NM_001130987.2(DYSF):c.3113C>T (p.Pro1038Leu)
|
rs764931697
|
0.00004
|
|
NM_001130987.2(DYSF):c.3118C>T (p.Arg1040Trp)
|
rs762486621
|
0.00004
|
|
NM_001130987.2(DYSF):c.3169C>T (p.Arg1057Trp)
|
rs760443264
|
0.00004
|
|
NM_001130987.2(DYSF):c.3185G>A (p.Arg1062His)
|
rs779159879
|
0.00004
|
|
NM_001130987.2(DYSF):c.3190C>T (p.Arg1064Cys)
|
rs752810646
|
0.00004
|
|
NM_001130987.2(DYSF):c.3228+7C>T
|
rs534331009
|
0.00004
|
|
NM_001130987.2(DYSF):c.3239C>T (p.Ala1080Val)
|
rs562368641
|
0.00004
|
|
NM_001130987.2(DYSF):c.3331C>T (p.Arg1111Cys)
|
rs372817333
|
0.00004
|
|
NM_001130987.2(DYSF):c.3836C>T (p.Thr1279Met)
|
rs202013788
|
0.00004
|
|
NM_001130987.2(DYSF):c.3943A>G (p.Arg1315Gly)
|
rs535831045
|
0.00004
|
|
NM_001130987.2(DYSF):c.4059G>A (p.Glu1353=)
|
rs773542731
|
0.00004
|
|
NM_001130987.2(DYSF):c.4292G>A (p.Arg1431His)
|
rs768354800
|
0.00004
|
|
NM_001130987.2(DYSF):c.4307G>A (p.Gly1436Asp)
|
rs398123787
|
0.00004
|
|
NM_001130987.2(DYSF):c.4358C>T (p.Ala1453Val)
|
rs754979997
|
0.00004
|
|
NM_001130987.2(DYSF):c.5275C>T (p.Arg1759Cys)
|
rs757240900
|
0.00004
|
|
NM_001130987.2(DYSF):c.5916C>G (p.Pro1972=)
|
rs375483537
|
0.00004
|
|
NM_001130987.2(DYSF):c.6133C>T (p.Arg2045Trp)
|
rs200921075
|
0.00004
|
|
NM_001130987.2(DYSF):c.6175C>T (p.Arg2059Cys)
|
rs370286628
|
0.00004
|
|
NM_001130987.2(DYSF):c.6312C>T (p.Tyr2104=)
|
rs549673939
|
0.00004
|
|
NM_001130987.2(DYSF):c.853C>T (p.Arg285Trp)
|
rs149827237
|
0.00004
|
|
NM_001130987.2(DYSF):c.950C>T (p.Thr317Met)
|
rs372952394
|
0.00004
|
|
NM_001130987.2(DYSF):c.962C>G (p.Ser321Cys)
|
rs776921154
|
0.00004
|
|
NM_001134793.2(HYLS1):c.547G>A (p.Glu183Lys)
|
rs374489253
|
0.00004
|
|
NM_001134793.2(HYLS1):c.589C>T (p.Leu197Phe)
|
rs192439596
|
0.00004
|
|
NM_001134793.2(HYLS1):c.822A>G (p.Ala274=)
|
rs777216787
|
0.00004
|
|
NM_001173990.3(TMEM216):c.254G>A (p.Arg85Gln)
|
rs368617773
|
0.00004
|
|
NM_001173990.3(TMEM216):c.277G>A (p.Val93Met)
|
rs541257103
|
0.00004
|
|
NM_001173990.3(TMEM216):c.344G>A (p.Arg115His)
|
rs752216307
|
0.00004
|
|
NM_001378454.1(ALMS1):c.10038C>T (p.Ser3346=)
|
rs375436336
|
0.00004
|
|
NM_001378454.1(ALMS1):c.10480C>T (p.Gln3494Ter)
|
rs772624348
|
0.00004
|
|
NM_001378454.1(ALMS1):c.10772del (p.Thr3591fs)
|
rs387906312
|
0.00004
|
|
NM_001378454.1(ALMS1):c.10858A>C (p.Arg3620=)
|
rs201598829
|
0.00004
|
|
NM_001378454.1(ALMS1):c.11032C>T (p.Arg3678Trp)
|
rs766771102
|
0.00004
|
|
NM_001378454.1(ALMS1):c.11293A>G (p.Ile3765Val)
|
rs758062371
|
0.00004
|
|
NM_001378454.1(ALMS1):c.11413C>T (p.Arg3805Ter)
|
rs376091780
|
0.00004
|
|
NM_001378454.1(ALMS1):c.11463G>A (p.Glu3821=)
|
rs750087396
|
0.00004
|
|
NM_001378454.1(ALMS1):c.11893G>T (p.Val3965Leu)
|
rs199683521
|
0.00004
|
|
NM_001378454.1(ALMS1):c.12037G>A (p.Gly4013Ser)
|
rs541576664
|
0.00004
|
|
NM_001378454.1(ALMS1):c.12120G>A (p.Ser4040=)
|
rs764462322
|
0.00004
|
|
NM_001378454.1(ALMS1):c.12173G>A (p.Arg4058His)
|
rs61743400
|
0.00004
|
|
NM_001378454.1(ALMS1):c.12284C>T (p.Pro4095Leu)
|
rs750502331
|
0.00004
|
|
NM_001378454.1(ALMS1):c.1339C>G (p.Pro447Ala)
|
rs377283762
|
0.00004
|
|
NM_001378454.1(ALMS1):c.1815T>G (p.Pro605=)
|
rs983651117
|
0.00004
|
|
NM_001378454.1(ALMS1):c.1886G>A (p.Gly629Asp)
|
rs531859344
|
0.00004
|
|
NM_001378454.1(ALMS1):c.2269C>T (p.Pro757Ser)
|
rs200827630
|
0.00004
|
|
NM_001378454.1(ALMS1):c.3319T>C (p.Tyr1107His)
|
rs746162373
|
0.00004
|
|
NM_001378454.1(ALMS1):c.3464A>C (p.His1155Pro)
|
rs553406974
|
0.00004
|
|
NM_001378454.1(ALMS1):c.435T>C (p.Gly145=)
|
rs541827475
|
0.00004
|
|
NM_001378454.1(ALMS1):c.4448T>C (p.Ile1483Thr)
|
rs370271775
|
0.00004
|
|
NM_001378454.1(ALMS1):c.451-5T>G
|
rs774098604
|
0.00004
|
|
NM_001378454.1(ALMS1):c.5267C>G (p.Ser1756Cys)
|
rs761486372
|
0.00004
|
|
NM_001378454.1(ALMS1):c.5444C>T (p.Ser1815Phe)
|
rs528863432
|
0.00004
|
|
NM_001378454.1(ALMS1):c.6076A>G (p.Lys2026Glu)
|
rs191286546
|
0.00004
|
|
NM_001378454.1(ALMS1):c.6926C>T (p.Thr2309Met)
|
rs147001219
|
0.00004
|
|
NM_001378454.1(ALMS1):c.7276T>G (p.Cys2426Gly)
|
rs549778430
|
0.00004
|
|
NM_001378454.1(ALMS1):c.7445A>G (p.His2482Arg)
|
rs199698329
|
0.00004
|
|
NM_001378454.1(ALMS1):c.7525C>T (p.Arg2509Trp)
|
rs34183407
|
0.00004
|
|
NM_001378454.1(ALMS1):c.7577G>A (p.Gly2526Glu)
|
rs201654702
|
0.00004
|
|
NM_001378454.1(ALMS1):c.7812C>G (p.Phe2604Leu)
|
rs201739856
|
0.00004
|
|
NM_001378454.1(ALMS1):c.7816T>C (p.Ser2606Pro)
|
rs532551687
|
0.00004
|
|
NM_001378454.1(ALMS1):c.8109G>A (p.Pro2703=)
|
rs759983484
|
0.00004
|
|
NM_001378454.1(ALMS1):c.8711A>C (p.His2904Pro)
|
rs370508584
|
0.00004
|
|
NM_001378454.1(ALMS1):c.8780G>A (p.Arg2927Gln)
|
rs778162209
|
0.00004
|
|
NM_001378454.1(ALMS1):c.9263A>G (p.His3088Arg)
|
rs376083621
|
0.00004
|
|
NM_001378454.1(ALMS1):c.9381C>T (p.Val3127=)
|
rs754743943
|
0.00004
|
|
NM_001378454.1(ALMS1):c.9386A>C (p.Gln3129Pro)
|
rs372015288
|
0.00004
|
|
NM_001378454.1(ALMS1):c.955A>G (p.Asn319Asp)
|
rs376892136
|
0.00004
|
|
NM_001384140.1(PCDH15):c.1141C>G (p.Leu381Val)
|
rs373453298
|
0.00004
|
|
NM_001384140.1(PCDH15):c.2214A>C (p.Gln738His)
|
rs746610406
|
0.00004
|
|
NM_001384140.1(PCDH15):c.2673T>G (p.Ser891Arg)
|
rs1052481975
|
0.00004
|
|
NM_001384140.1(PCDH15):c.2717C>T (p.Pro906Leu)
|
rs374205826
|
0.00004
|
|
NM_001384140.1(PCDH15):c.2936T>C (p.Phe979Ser)
|
rs150891423
|
0.00004
|
|
NM_001384140.1(PCDH15):c.2978A>G (p.Asn993Ser)
|
rs141419177
|
0.00004
|
|
NM_001384140.1(PCDH15):c.3328G>A (p.Asp1110Asn)
|
rs138363888
|
0.00004
|
|
NM_001384140.1(PCDH15):c.3456T>C (p.Gly1152=)
|
rs202091131
|
0.00004
|
|
NM_001384140.1(PCDH15):c.3667A>T (p.Ile1223Phe)
|
rs752490775
|
0.00004
|
|
NM_001384140.1(PCDH15):c.4048C>T (p.Arg1350Cys)
|
rs138398244
|
0.00004
|
|
NM_001384140.1(PCDH15):c.4330G>C (p.Gly1444Arg)
|
rs550282961
|
0.00004
|
|
NM_001384140.1(PCDH15):c.944C>T (p.Pro315Leu)
|
rs138299477
|
0.00004
|
|
NM_001384474.1(LOXHD1):c.176C>T (p.Thr59Met)
|
rs374871163
|
0.00004
|
|
NM_001384474.1(LOXHD1):c.1950C>T (p.Asn650=)
|
rs371762941
|
0.00004
|
|
NM_001384474.1(LOXHD1):c.2721C>T (p.Asp907=)
|
rs755305237
|
0.00004
|
|
NM_001384474.1(LOXHD1):c.4190G>A (p.Arg1397His)
|
rs727505122
|
0.00004
|
|
NM_001384474.1(LOXHD1):c.5454A>G (p.Pro1818=)
|
rs763569894
|
0.00004
|
|
NM_001384474.1(LOXHD1):c.5479G>A (p.Asp1827Asn)
|
rs1167683873
|
0.00004
|
|
NM_001384474.1(LOXHD1):c.5913T>C (p.Asp1971=)
|
rs773969803
|
0.00004
|
|
NM_001384474.1(LOXHD1):c.5967C>T (p.Leu1989=)
|
rs574598048
|
0.00004
|
|
NM_001384474.1(LOXHD1):c.6197C>T (p.Thr2066Met)
|
rs368303635
|
0.00004
|
|
NM_001384474.1(LOXHD1):c.621G>A (p.Arg207=)
|
rs200328459
|
0.00004
|
|
NM_001384474.1(LOXHD1):c.6229A>T (p.Ile2077Phe)
|
rs563899816
|
0.00004
|
|
NM_001384474.1(LOXHD1):c.6594C>T (p.Phe2198=)
|
rs981453947
|
0.00004
|
|
NM_001386140.1(MTTP):c.1618C>T (p.Arg540Cys)
|
rs372321643
|
0.00004
|
|
NM_001386140.1(MTTP):c.1619G>A (p.Arg540His)
|
rs199422220
|
0.00004
|
|
NM_001386140.1(MTTP):c.163G>A (p.Val55Met)
|
rs369453726
|
0.00004
|
|
NM_001386140.1(MTTP):c.1867+1G>A
|
rs764189338
|
0.00004
|
|
NM_001386140.1(MTTP):c.2167G>A (p.Asp723Asn)
|
rs371023325
|
0.00004
|
|
NM_001386140.1(MTTP):c.2190A>G (p.Gly730=)
|
rs761984561
|
0.00004
|
|
NM_001386140.1(MTTP):c.2593G>T (p.Gly865Ter)
|
rs146064714
|
0.00004
|
|
NM_001386140.1(MTTP):c.34A>G (p.Ile12Val)
|
rs764357849
|
0.00004
|
|
NM_001386140.1(MTTP):c.833A>G (p.Lys278Arg)
|
rs886058957
|
0.00004
|
|
NM_001692.4(ATP6V1B1):c.1161C>G (p.Asn387Lys)
|
rs377624239
|
0.00004
|
|
NM_001692.4(ATP6V1B1):c.538G>A (p.Gly180Ser)
|
rs267599435
|
0.00004
|
|
NM_002454.3(MTRR):c.209G>A (p.Arg70His)
|
rs777202031
|
0.00004
|
|
NM_002454.3(MTRR):c.27T>C (p.Ala9=)
|
rs114748706
|
0.00004
|
|
NM_002454.3(MTRR):c.507G>C (p.Val169=)
|
rs367609729
|
0.00004
|
|
NM_002485.5(NBN):c.1089C>T (p.Tyr363=)
|
rs121908974
|
0.00004
|
|
NM_002485.5(NBN):c.1373A>G (p.Tyr458Cys)
|
rs544909538
|
0.00004
|
|
NM_002485.5(NBN):c.224G>C (p.Gly75Ala)
|
rs587782179
|
0.00004
|
|
NM_002485.5(NBN):c.506G>A (p.Arg169His)
|
rs776134250
|
0.00004
|
|
NM_002485.5(NBN):c.633T>A (p.Asp211Glu)
|
rs377700348
|
0.00004
|
|
NM_002485.5(NBN):c.683T>G (p.Ile228Arg)
|
rs777460725
|
0.00004
|
|
NM_002485.5(NBN):c.721G>A (p.Ala241Thr)
|
rs587781333
|
0.00004
|
|
NM_002485.5(NBN):c.803C>T (p.Thr268Met)
|
rs535602436
|
0.00004
|
|
NM_002617.4(PEX10):c.144G>A (p.Glu48=)
|
rs141263967
|
0.00004
|
|
NM_002617.4(PEX10):c.247C>T (p.Arg83Trp)
|
rs377135853
|
0.00004
|
|
NM_002617.4(PEX10):c.271C>T (p.Arg91Cys)
|
rs747921371
|
0.00004
|
|
NM_002617.4(PEX10):c.776+5G>A
|
rs747776170
|
0.00004
|
|
NM_003384.3(VRK1):c.1150A>G (p.Ile384Val)
|
rs147604836
|
0.00004
|
|
NM_003384.3(VRK1):c.29G>A (p.Gly10Glu)
|
rs777028935
|
0.00004
|
|
NM_003384.3(VRK1):c.560A>G (p.Tyr187Cys)
|
rs769507445
|
0.00004
|
|
NM_003384.3(VRK1):c.663C>T (p.His221=)
|
rs376006178
|
0.00004
|
|
NM_003384.3(VRK1):c.683C>T (p.Thr228Met)
|
rs146113610
|
0.00004
|
|
NM_003384.3(VRK1):c.841A>G (p.Asn281Asp)
|
rs772136738
|
0.00004
|
|
NM_004004.6(GJB2):c.1A>G (p.Met1Val)
|
rs111033293
|
0.00004
|
|
NM_004004.6(GJB2):c.385G>A (p.Glu129Lys)
|
rs397516875
|
0.00004
|
|
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys)
|
rs767178508
|
0.00004
|
|
NM_004004.6(GJB2):c.533T>C (p.Val178Ala)
|
rs568612627
|
0.00004
|
|
NM_004004.6(GJB2):c.587T>C (p.Ile196Thr)
|
rs765172751
|
0.00004
|
|
NM_004004.6(GJB2):c.663G>C (p.Lys221Asn)
|
rs375599392
|
0.00004
|
|
NM_006019.4(TCIRG1):c.1009C>T (p.Arg337Trp)
|
rs766765320
|
0.00004
|
|
NM_006019.4(TCIRG1):c.1146C>A (p.Arg382=)
|
rs753324402
|
0.00004
|
|
NM_006019.4(TCIRG1):c.1549G>A (p.Asp517Asn)
|
rs369264588
|
0.00004
|
|
NM_006019.4(TCIRG1):c.1627G>A (p.Val543Ile)
|
rs763319140
|
0.00004
|
|
NM_006019.4(TCIRG1):c.1904C>T (p.Thr635Met)
|
rs763119311
|
0.00004
|
|
NM_006019.4(TCIRG1):c.2119-9G>A
|
rs761413420
|
0.00004
|
|
NM_006019.4(TCIRG1):c.2236+1G>A
|
rs1475338876
|
0.00004
|
|
NM_006019.4(TCIRG1):c.2244C>T (p.Ser748=)
|
rs759227930
|
0.00004
|
|
NM_006019.4(TCIRG1):c.726C>T (p.His242=)
|
rs1054033489
|
0.00004
|
|
NM_006019.4(TCIRG1):c.964G>A (p.Ala322Thr)
|
rs202161177
|
0.00004
|
|
NM_006118.4(HAX1):c.339G>C (p.Glu113Asp)
|
rs367673863
|
0.00004
|
|
NM_006118.4(HAX1):c.525G>A (p.Met175Ile)
|
rs747655324
|
0.00004
|
|
NM_006118.4(HAX1):c.757C>A (p.Pro253Thr)
|
rs149721308
|
0.00004
|
|
NM_007259.5(VPS45):c.319G>A (p.Val107Met)
|
rs782553177
|
0.00004
|
|
NM_007259.5(VPS45):c.369+8T>A
|
rs201637627
|
0.00004
|
|
NM_007259.5(VPS45):c.390T>C (p.Ile130=)
|
rs782273593
|
0.00004
|
|
NM_014363.6(SACS):c.10118C>T (p.Thr3373Ile)
|
rs200591364
|
0.00004
|
|
NM_014363.6(SACS):c.10256G>A (p.Arg3419His)
|
rs536675517
|
0.00004
|
|
NM_014363.6(SACS):c.10438C>T (p.His3480Tyr)
|
rs761189797
|
0.00004
|
|
NM_014363.6(SACS):c.10737G>A (p.Met3579Ile)
|
rs199970621
|
0.00004
|
|
NM_014363.6(SACS):c.10983G>A (p.Ala3661=)
|
rs200900703
|
0.00004
|
|
NM_014363.6(SACS):c.11049T>C (p.Asn3683=)
|
rs773770705
|
0.00004
|
|
NM_014363.6(SACS):c.11161G>A (p.Gly3721Ser)
|
rs780789569
|
0.00004
|
|
NM_014363.6(SACS):c.11301A>T (p.Lys3767Asn)
|
rs762041995
|
0.00004
|
|
NM_014363.6(SACS):c.11327T>C (p.Ile3776Thr)
|
rs145188410
|
0.00004
|
|
NM_014363.6(SACS):c.1224C>T (p.Asp408=)
|
rs2274386
|
0.00004
|
|
NM_014363.6(SACS):c.1297G>C (p.Ala433Pro)
|
rs770677319
|
0.00004
|
|
NM_014363.6(SACS):c.134C>T (p.Pro45Leu)
|
rs1033188876
|
0.00004
|
|
NM_014363.6(SACS):c.1387C>A (p.His463Asn)
|
rs149951538
|
0.00004
|
|
NM_014363.6(SACS):c.1913G>A (p.Cys638Tyr)
|
rs778572943
|
0.00004
|
|
NM_014363.6(SACS):c.2439_2440del (p.Val815fs)
|
rs775059063
|
0.00004
|
|
NM_014363.6(SACS):c.346-3T>A
|
rs186506382
|
0.00004
|
|
NM_014363.6(SACS):c.3551C>G (p.Pro1184Arg)
|
rs374961109
|
0.00004
|
|
NM_014363.6(SACS):c.5274C>T (p.Cys1758=)
|
rs201982449
|
0.00004
|
|
NM_014363.6(SACS):c.5461T>C (p.Cys1821Arg)
|
rs376680832
|
0.00004
|
|
NM_014363.6(SACS):c.6030G>T (p.Lys2010Asn)
|
rs769751841
|
0.00004
|
|
NM_014363.6(SACS):c.6409C>G (p.Gln2137Glu)
|
rs201690040
|
0.00004
|
|
NM_014363.6(SACS):c.6496C>T (p.Arg2166Cys)
|
rs764516788
|
0.00004
|
|
NM_014363.6(SACS):c.6561C>T (p.Ile2187=)
|
rs143477126
|
0.00004
|
|
NM_014363.6(SACS):c.7150G>A (p.Glu2384Lys)
|
rs762896797
|
0.00004
|
|
NM_014363.6(SACS):c.7916T>C (p.Ile2639Thr)
|
rs202144442
|
0.00004
|
|
NM_014363.6(SACS):c.8192G>A (p.Arg2731His)
|
rs201127191
|
0.00004
|
|
NM_014363.6(SACS):c.9031A>G (p.Ile3011Val)
|
rs377657177
|
0.00004
|
|
NM_014363.6(SACS):c.9251T>C (p.Ile3084Thr)
|
rs149290718
|
0.00004
|
|
NM_014363.6(SACS):c.9788A>G (p.Glu3263Gly)
|
rs369713918
|
0.00004
|
|
NM_014363.6(SACS):c.9947A>C (p.Gln3316Pro)
|
rs775506976
|
0.00004
|
|
NM_015474.4(SAMHD1):c.208+8C>T
|
rs543987630
|
0.00004
|
|
NM_015474.4(SAMHD1):c.510G>C (p.Gly170=)
|
rs767971429
|
0.00004
|
|
NM_015474.4(SAMHD1):c.93C>T (p.Asp31=)
|
rs754519810
|
0.00004
|
|
NM_015474.4(SAMHD1):c.993C>T (p.Tyr331=)
|
rs775726168
|
0.00004
|
|
NM_022124.6(CDH23):c.1363G>A (p.Asp455Asn)
|
rs727502920
|
0.00004
|
|
NM_022124.6(CDH23):c.1504G>A (p.Asp502Asn)
|
rs200459094
|
0.00004
|
|
NM_022124.6(CDH23):c.1584C>T (p.Arg528=)
|
rs397517309
|
0.00004
|
|
NM_022124.6(CDH23):c.160C>G (p.Gln54Glu)
|
rs765455172
|
0.00004
|
|
NM_022124.6(CDH23):c.1665C>T (p.Asn555=)
|
rs397517310
|
0.00004
|
|
NM_022124.6(CDH23):c.1719C>T (p.Asn573=)
|
rs761913744
|
0.00004
|
|
NM_022124.6(CDH23):c.1745G>A (p.Arg582Gln)
|
rs200263980
|
0.00004
|
|
NM_022124.6(CDH23):c.1750C>T (p.Arg584Trp)
|
rs375781856
|
0.00004
|
|
NM_022124.6(CDH23):c.205G>A (p.Val69Met)
|
rs563224115
|
0.00004
|
|
NM_022124.6(CDH23):c.2251G>A (p.Gly751Arg)
|
rs41281306
|
0.00004
|
|
NM_022124.6(CDH23):c.2368A>G (p.Met790Val)
|
rs187827251
|
0.00004
|
|
NM_022124.6(CDH23):c.2500C>T (p.Arg834Cys)
|
rs372387390
|
0.00004
|
|
NM_022124.6(CDH23):c.2560C>T (p.Arg854Cys)
|
rs768340895
|
0.00004
|
|
NM_022124.6(CDH23):c.269G>A (p.Arg90Gln)
|
rs397517317
|
0.00004
|
|
NM_022124.6(CDH23):c.2804G>A (p.Arg935His)
|
rs748194042
|
0.00004
|
|
NM_022124.6(CDH23):c.2876C>T (p.Ala959Val)
|
rs779133533
|
0.00004
|
|
NM_022124.6(CDH23):c.4230C>T (p.Asp1410=)
|
rs762720558
|
0.00004
|
|
NM_022124.6(CDH23):c.4267G>A (p.Asp1423Asn)
|
rs779009042
|
0.00004
|
|
NM_022124.6(CDH23):c.4275G>A (p.Ala1425=)
|
rs369559033
|
0.00004
|
|
NM_022124.6(CDH23):c.4309C>T (p.Arg1437Ter)
|
rs397517329
|
0.00004
|
|
NM_022124.6(CDH23):c.4431C>T (p.Gly1477=)
|
rs763102268
|
0.00004
|
|
NM_022124.6(CDH23):c.4738C>T (p.Arg1580Cys)
|
rs555430482
|
0.00004
|
|
NM_022124.6(CDH23):c.4853C>T (p.Thr1618Met)
|
rs371884850
|
0.00004
|
|
NM_022124.6(CDH23):c.499G>A (p.Val167Ile)
|
rs772995621
|
0.00004
|
|
NM_022124.6(CDH23):c.5002G>A (p.Gly1668Ser)
|
rs781280613
|
0.00004
|
|
NM_022124.6(CDH23):c.5519G>A (p.Arg1840Gln)
|
rs375083901
|
0.00004
|
|
NM_022124.6(CDH23):c.5535C>T (p.Asn1845=)
|
rs779425775
|
0.00004
|
|
NM_022124.6(CDH23):c.5692G>A (p.Ala1898Thr)
|
rs548937425
|
0.00004
|
|
NM_022124.6(CDH23):c.5807G>A (p.Arg1936His)
|
rs558551826
|
0.00004
|
|
NM_022124.6(CDH23):c.5989G>A (p.Val1997Met)
|
rs755121910
|
0.00004
|
|
NM_022124.6(CDH23):c.6091G>A (p.Ala2031Thr)
|
rs368381520
|
0.00004
|
|
NM_022124.6(CDH23):c.6098C>T (p.Ser2033Leu)
|
rs537971045
|
0.00004
|
|
NM_022124.6(CDH23):c.6139G>A (p.Gly2047Arg)
|
rs750815841
|
0.00004
|
|
NM_022124.6(CDH23):c.623C>T (p.Thr208Ile)
|
rs749123528
|
0.00004
|
|
NM_022124.6(CDH23):c.6320G>A (p.Arg2107Gln)
|
rs780094972
|
0.00004
|
|
NM_022124.6(CDH23):c.6655G>A (p.Asp2219Asn)
|
rs555684781
|
0.00004
|
|
NM_022124.6(CDH23):c.6665G>A (p.Arg2222His)
|
rs534969331
|
0.00004
|
|
NM_022124.6(CDH23):c.6808C>T (p.Arg2270Cys)
|
rs755800639
|
0.00004
|
|
NM_022124.6(CDH23):c.7569G>A (p.Pro2523=)
|
rs533989797
|
0.00004
|
|
NM_022124.6(CDH23):c.7615G>C (p.Gly2539Arg)
|
rs373649718
|
0.00004
|
|
NM_022124.6(CDH23):c.8316C>T (p.Asn2772=)
|
rs368145346
|
0.00004
|
|
NM_022124.6(CDH23):c.8444G>A (p.Arg2815His)
|
rs376835293
|
0.00004
|
|
NM_022124.6(CDH23):c.8624T>C (p.Ile2875Thr)
|
rs776064526
|
0.00004
|
|
NM_022124.6(CDH23):c.8790G>A (p.Val2930=)
|
rs753235775
|
0.00004
|
|
NM_022124.6(CDH23):c.9115C>T (p.Arg3039Trp)
|
rs1026597345
|
0.00004
|
|
NM_022124.6(CDH23):c.9198+10G>A
|
rs758760731
|
0.00004
|
|
NM_022124.6(CDH23):c.9566G>A (p.Arg3189Gln)
|
rs727502936
|
0.00004
|
|
NM_022124.6(CDH23):c.9616C>T (p.Arg3206Cys)
|
rs778711089
|
0.00004
|
|
NM_022124.6(CDH23):c.982G>A (p.Ala328Thr)
|
rs374545987
|
0.00004
|
|
NM_024301.5(FKRP):c.1119C>A (p.Gly373=)
|
rs370575962
|
0.00004
|
|
NM_024301.5(FKRP):c.1236C>T (p.His412=)
|
rs201076863
|
0.00004
|
|
NM_024301.5(FKRP):c.1376C>T (p.Ala459Val)
|
rs749109905
|
0.00004
|
|
NM_024301.5(FKRP):c.1407G>A (p.Leu469=)
|
rs1351635868
|
0.00004
|
|
NM_024301.5(FKRP):c.229C>T (p.Gln77Ter)
|
rs1051900223
|
0.00004
|
|
NM_024301.5(FKRP):c.232C>T (p.Pro78Ser)
|
rs747511445
|
0.00004
|
|
NM_024301.5(FKRP):c.328C>T (p.Arg110Trp)
|
rs758759348
|
0.00004
|
|
NM_024301.5(FKRP):c.545A>G (p.Tyr182Cys)
|
rs543163491
|
0.00004
|
|
NM_024301.5(FKRP):c.569G>A (p.Arg190His)
|
rs917645867
|
0.00004
|
|
NM_024301.5(FKRP):c.899T>C (p.Val300Ala)
|
rs104894691
|
0.00004
|
|
NM_024649.5(BBS1):c.1592C>T (p.Pro531Leu)
|
rs746206916
|
0.00004
|
|
NM_024649.5(BBS1):c.163G>A (p.Val55Met)
|
rs181765153
|
0.00004
|
|
NM_024649.5(BBS1):c.1744G>A (p.Val582Ile)
|
rs111358560
|
0.00004
|
|
NM_024649.5(BBS1):c.175C>G (p.Leu59Val)
|
rs113822005
|
0.00004
|
|
NM_024649.5(BBS1):c.274T>C (p.Phe92Leu)
|
rs778339359
|
0.00004
|
|
NM_024649.5(BBS1):c.437G>A (p.Arg146Gln)
|
rs759253107
|
0.00004
|
|
NM_024649.5(BBS1):c.840G>C (p.Lys280Asn)
|
rs780169168
|
0.00004
|
|
NM_024685.4(BBS10):c.1412A>T (p.Asp471Val)
|
rs200718870
|
0.00004
|
|
NM_024685.4(BBS10):c.1463A>G (p.Lys488Arg)
|
rs1021050605
|
0.00004
|
|
NM_024685.4(BBS10):c.1548A>T (p.Thr516=)
|
rs771662934
|
0.00004
|
|
NM_024685.4(BBS10):c.1837T>C (p.Tyr613His)
|
rs141647931
|
0.00004
|
|
NM_024685.4(BBS10):c.1969A>G (p.Thr657Ala)
|
rs766733372
|
0.00004
|
|
NM_024685.4(BBS10):c.273C>G (p.Cys91Trp)
|
rs148374859
|
0.00004
|
|
NM_025114.4(CEP290):c.1712-3T>C
|
rs376688469
|
0.00004
|
|
NM_025114.4(CEP290):c.1905T>C (p.Asn635=)
|
rs778341097
|
0.00004
|
|
NM_025114.4(CEP290):c.1945G>A (p.Glu649Lys)
|
rs761705359
|
0.00004
|
|
NM_025114.4(CEP290):c.2129G>C (p.Gly710Ala)
|
rs969763835
|
0.00004
|
|
NM_025114.4(CEP290):c.2244T>C (p.Ser748=)
|
rs979564116
|
0.00004
|
|
NM_025114.4(CEP290):c.2740A>G (p.Asn914Asp)
|
rs372321551
|
0.00004
|
|
NM_025114.4(CEP290):c.288T>C (p.Asn96=)
|
rs367691481
|
0.00004
|
|
NM_025114.4(CEP290):c.3028A>G (p.Ile1010Val)
|
rs1038566350
|
0.00004
|
|
NM_025114.4(CEP290):c.3791G>A (p.Arg1264His)
|
rs774144082
|
0.00004
|
|
NM_025114.4(CEP290):c.3810A>G (p.Leu1270=)
|
rs769060806
|
0.00004
|
|
NM_025114.4(CEP290):c.4064G>A (p.Arg1355His)
|
rs548558619
|
0.00004
|
|
NM_025114.4(CEP290):c.4151G>A (p.Arg1384His)
|
rs143152287
|
0.00004
|
|
NM_025114.4(CEP290):c.4240C>G (p.Leu1414Val)
|
rs762417751
|
0.00004
|
|
NM_025114.4(CEP290):c.4404A>G (p.Leu1468=)
|
rs779186037
|
0.00004
|
|
NM_025114.4(CEP290):c.4438-3del
|
rs747323414
|
0.00004
|
|
NM_025114.4(CEP290):c.4523G>A (p.Arg1508Gln)
|
rs568197175
|
0.00004
|
|
NM_025114.4(CEP290):c.508A>T (p.Lys170Ter)
|
rs772170760
|
0.00004
|
|
NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter)
|
rs370119681
|
0.00004
|
|
NM_025114.4(CEP290):c.5186G>A (p.Arg1729Gln)
|
rs535531689
|
0.00004
|
|
NM_025114.4(CEP290):c.609C>T (p.Asp203=)
|
rs767725492
|
0.00004
|
|
NM_025114.4(CEP290):c.6191A>G (p.Glu2064Gly)
|
rs987259388
|
0.00004
|
|
NM_025114.4(CEP290):c.7079A>C (p.His2360Pro)
|
rs1006780282
|
0.00004
|
|
NM_025114.4(CEP290):c.814G>A (p.Asp272Asn)
|
rs866480852
|
0.00004
|
|
NM_025216.3(WNT10A):c.1005C>T (p.Asp335=)
|
rs779449131
|
0.00004
|
|
NM_031885.5(BBS2):c.1666A>G (p.Ile556Val)
|
rs376380339
|
0.00004
|
|
NM_031885.5(BBS2):c.1885G>A (p.Glu629Lys)
|
rs746505864
|
0.00004
|
|
NM_031885.5(BBS2):c.2056C>T (p.Arg686Trp)
|
rs372135700
|
0.00004
|
|
NM_031885.5(BBS2):c.422A>G (p.Asn141Ser)
|
rs144680278
|
0.00004
|
|
NM_031885.5(BBS2):c.534+1G>T
|
rs773862084
|
0.00004
|
|
NM_031885.5(BBS2):c.744T>C (p.His248=)
|
rs186893286
|
0.00004
|
|
NM_031885.5(BBS2):c.962C>T (p.Thr321Met)
|
rs758548498
|
0.00004
|
|
NM_033056.4(PCDH15):c.4575T>C (p.His1525=)
|
rs746377416
|
0.00004
|
|
NM_033056.4(PCDH15):c.4774C>T (p.Pro1592Ser)
|
rs773753270
|
0.00004
|
|
NM_033056.4(PCDH15):c.4810A>G (p.Arg1604Gly)
|
rs558224212
|
0.00004
|
|
NM_033056.4(PCDH15):c.4933C>T (p.Leu1645=)
|
rs61862392
|
0.00004
|
|
NM_033056.4(PCDH15):c.5033C>T (p.Ser1678Leu)
|
rs143438666
|
0.00004
|
|
NM_033056.4(PCDH15):c.5450C>T (p.Pro1817Leu)
|
rs759208006
|
0.00004
|
|
NM_033056.4(PCDH15):c.5614A>G (p.Lys1872Glu)
|
rs147727092
|
0.00004
|
|
NM_138694.4(PKHD1):c.10402A>G (p.Ile3468Val)
|
rs748863662
|
0.00004
|
|
NM_138694.4(PKHD1):c.10445G>A (p.Arg3482His)
|
rs143915416
|
0.00004
|
|
NM_138694.4(PKHD1):c.11226A>G (p.Ala3742=)
|
rs770933024
|
0.00004
|
|
NM_138694.4(PKHD1):c.11460C>A (p.Ile3820=)
|
rs763641339
|
0.00004
|
|
NM_138694.4(PKHD1):c.11665+1G>A
|
rs759851475
|
0.00004
|
|
NM_138694.4(PKHD1):c.1249A>G (p.Ile417Val)
|
rs781286941
|
0.00004
|
|
NM_138694.4(PKHD1):c.143G>A (p.Gly48Asp)
|
rs557361225
|
0.00004
|
|
NM_138694.4(PKHD1):c.150T>G (p.Leu50=)
|
rs529214120
|
0.00004
|
|
NM_138694.4(PKHD1):c.2079G>T (p.Leu693=)
|
rs746441159
|
0.00004
|
|
NM_138694.4(PKHD1):c.218G>A (p.Arg73Gln)
|
rs577541526
|
0.00004
|
|
NM_138694.4(PKHD1):c.2280-10C>T
|
rs749295454
|
0.00004
|
|
NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter)
|
rs398124478
|
0.00004
|
|
NM_138694.4(PKHD1):c.2639G>A (p.Arg880His)
|
rs886042298
|
0.00004
|
|
NM_138694.4(PKHD1):c.2961G>T (p.Leu987Phe)
|
rs398124482
|
0.00004
|
|
NM_138694.4(PKHD1):c.2981G>A (p.Arg994Gln)
|
rs753169961
|
0.00004
|
|
NM_138694.4(PKHD1):c.3806T>C (p.Val1269Ala)
|
rs1398646157
|
0.00004
|
|
NM_138694.4(PKHD1):c.4105C>T (p.Arg1369Cys)
|
rs368974211
|
0.00004
|
|
NM_138694.4(PKHD1):c.4292G>A (p.Cys1431Tyr)
|
rs753307105
|
0.00004
|
|
NM_138694.4(PKHD1):c.5535A>G (p.Gln1845=)
|
rs140036742
|
0.00004
|
|
NM_138694.4(PKHD1):c.7469A>G (p.Asp2490Gly)
|
rs746000400
|
0.00004
|
|
NM_138694.4(PKHD1):c.75T>C (p.Ile25=)
|
rs138600204
|
0.00004
|
|
NM_152443.3(RDH12):c.187+3A>G
|
rs568731074
|
0.00004
|
|
NM_152443.3(RDH12):c.284G>A (p.Arg95Gln)
|
rs765914942
|
0.00004
|
|
NM_152443.3(RDH12):c.295C>A (p.Leu99Ile)
|
rs28940315
|
0.00004
|
|
NM_152443.3(RDH12):c.320C>A (p.Ala107Asp)
|
rs775717423
|
0.00004
|
|
NM_152443.3(RDH12):c.755C>A (p.Ser252Tyr)
|
rs376787473
|
0.00004
|
|
NM_152618.3(BBS12):c.1348G>A (p.Gly450Arg)
|
rs1487383886
|
0.00004
|
|
NM_152618.3(BBS12):c.1411G>A (p.Val471Met)
|
rs140675688
|
0.00004
|
|
NM_152618.3(BBS12):c.1712A>G (p.Asn571Ser)
|
rs371908294
|
0.00004
|
|
NM_152618.3(BBS12):c.1995T>C (p.Val665=)
|
rs771980986
|
0.00004
|
|
NM_152618.3(BBS12):c.1A>C (p.Met1Leu)
|
rs750366365
|
0.00004
|
|
NM_152618.3(BBS12):c.2094G>C (p.Gln698His)
|
rs373082306
|
0.00004
|
|
NM_152618.3(BBS12):c.2100T>C (p.Asn700=)
|
rs145847043
|
0.00004
|
|
NM_152618.3(BBS12):c.21C>T (p.Val7=)
|
rs754702110
|
0.00004
|
|
NM_152618.3(BBS12):c.476C>T (p.Pro159Leu)
|
rs1450190654
|
0.00004
|
|
NM_152618.3(BBS12):c.68C>T (p.Ala23Val)
|
rs200240034
|
0.00004
|
|
NM_153676.4(USH1C):c.188G>A (p.Arg63Gln)
|
rs372497947
|
0.00004
|
|
NM_153676.4(USH1C):c.2341G>A (p.Val781Ile)
|
rs397517875
|
0.00004
|
|
NM_153676.4(USH1C):c.2377C>T (p.His793Tyr)
|
rs372227474
|
0.00004
|
|
NM_153676.4(USH1C):c.241C>T (p.Arg81Cys)
|
rs876658111
|
0.00004
|
|
NM_153676.4(USH1C):c.579+8C>T
|
rs368634906
|
0.00004
|
|
NM_153676.4(USH1C):c.781G>A (p.Val261Ile)
|
rs749119650
|
0.00004
|
|
NM_153676.4(USH1C):c.864T>G (p.Ile288Met)
|
rs754717329
|
0.00004
|
|
NM_153717.3(EVC):c.1269G>A (p.Thr423=)
|
rs551881521
|
0.00004
|
|
NM_153717.3(EVC):c.1896G>T (p.Arg632=)
|
rs758327867
|
0.00004
|
|
NM_153717.3(EVC):c.219G>A (p.Ala73=)
|
rs759816860
|
0.00004
|
|
NM_153717.3(EVC):c.2412C>T (p.His804=)
|
rs553232598
|
0.00004
|
|
NM_153717.3(EVC):c.580C>T (p.Arg194Trp)
|
rs757990300
|
0.00004
|
|
NM_153717.3(EVC):c.717T>A (p.Ile239=)
|
rs372312182
|
0.00004
|
|
NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly)
|
rs121908143
|
0.00004
|
|
NM_174878.3(CLRN1):c.437C>T (p.Ser146Phe)
|
rs201625237
|
0.00004
|
|
NM_201253.3(CRB1):c.1014C>A (p.Ile338=)
|
rs771549675
|
0.00004
|
|
NM_201253.3(CRB1):c.2035C>G (p.Gln679Glu)
|
rs62636286
|
0.00004
|
|
NM_201253.3(CRB1):c.2231G>A (p.Arg744Gln)
|
rs530046423
|
0.00004
|
|
NM_201253.3(CRB1):c.2403G>A (p.Lys801=)
|
rs568010290
|
0.00004
|
|
NM_201253.3(CRB1):c.2688T>A (p.Cys896Ter)
|
rs62636273
|
0.00004
|
|
NM_201253.3(CRB1):c.269G>A (p.Gly90Glu)
|
rs368816923
|
0.00004
|
|
NM_201253.3(CRB1):c.4157A>G (p.Lys1386Arg)
|
rs776191501
|
0.00004
|
|
NM_201253.3(CRB1):c.4169G>A (p.Arg1390Gln)
|
rs764581378
|
0.00004
|
|
NM_206933.4(USH2A):c.10904C>A (p.Thr3635Asn)
|
rs727505166
|
0.00004
|
|
NM_206933.4(USH2A):c.10931C>T (p.Thr3644Met)
|
rs185823130
|
0.00004
|
|
NM_206933.4(USH2A):c.11134G>A (p.Val3712Ile)
|
rs201951918
|
0.00004
|
|
NM_206933.4(USH2A):c.11435A>G (p.Asn3812Ser)
|
rs776876392
|
0.00004
|
|
NM_206933.4(USH2A):c.12344G>A (p.Arg4115His)
|
rs775075094
|
0.00004
|
|
NM_206933.4(USH2A):c.13159A>G (p.Thr4387Ala)
|
rs755416914
|
0.00004
|
|
NM_206933.4(USH2A):c.13484G>A (p.Arg4495His)
|
rs550096037
|
0.00004
|
|
NM_206933.4(USH2A):c.13812-5T>C
|
rs371583628
|
0.00004
|
|
NM_206933.4(USH2A):c.1388A>G (p.Tyr463Cys)
|
rs139997881
|
0.00004
|
|
NM_206933.4(USH2A):c.14369A>C (p.Gln4790Pro)
|
rs149807281
|
0.00004
|
|
NM_206933.4(USH2A):c.14532G>A (p.Thr4844=)
|
rs150350278
|
0.00004
|
|
NM_206933.4(USH2A):c.14570G>C (p.Gly4857Ala)
|
rs749889050
|
0.00004
|
|
NM_206933.4(USH2A):c.14761G>A (p.Glu4921Lys)
|
rs754834155
|
0.00004
|
|
NM_206933.4(USH2A):c.14961G>A (p.Ala4987=)
|
rs568581229
|
0.00004
|
|
NM_206933.4(USH2A):c.15089C>T (p.Ser5030Leu)
|
rs758660532
|
0.00004
|
|
NM_206933.4(USH2A):c.15281C>T (p.Pro5094Leu)
|
rs727503714
|
0.00004
|
|
NM_206933.4(USH2A):c.1530C>T (p.Asp510=)
|
rs200940197
|
0.00004
|
|
NM_206933.4(USH2A):c.15432C>T (p.Ser5144=)
|
rs145362017
|
0.00004
|
|
NM_206933.4(USH2A):c.1601A>G (p.Tyr534Cys)
|
rs570446209
|
0.00004
|
|
NM_206933.4(USH2A):c.1877G>A (p.Arg626Gln)
|
rs192524347
|
0.00004
|
|
NM_206933.4(USH2A):c.22T>C (p.Leu8=)
|
rs778803503
|
0.00004
|
|
NM_206933.4(USH2A):c.2398G>A (p.Ala800Thr)
|
rs375656256
|
0.00004
|
|
NM_206933.4(USH2A):c.2726C>A (p.Pro909His)
|
rs752748453
|
0.00004
|
|
NM_206933.4(USH2A):c.286A>G (p.Thr96Ala)
|
rs557642490
|
0.00004
|
|
NM_206933.4(USH2A):c.3780T>C (p.His1260=)
|
rs759937489
|
0.00004
|
|
NM_206933.4(USH2A):c.3937A>G (p.Asn1313Asp)
|
rs540537272
|
0.00004
|
|
NM_206933.4(USH2A):c.4562G>A (p.Arg1521His)
|
rs770394440
|
0.00004
|
|
NM_206933.4(USH2A):c.486-14G>A
|
rs374536346
|
0.00004
|
|
NM_206933.4(USH2A):c.6096A>G (p.Leu2032=)
|
rs376669318
|
0.00004
|
|
NM_206933.4(USH2A):c.6372A>T (p.Thr2124=)
|
rs548332655
|
0.00004
|
|
NM_206933.4(USH2A):c.6397T>C (p.Trp2133Arg)
|
rs370643158
|
0.00004
|
|
NM_206933.4(USH2A):c.6602A>T (p.Gln2201Leu)
|
rs143107117
|
0.00004
|
|
NM_206933.4(USH2A):c.723T>C (p.Thr241=)
|
rs571744403
|
0.00004
|
|
NM_206933.4(USH2A):c.7494T>A (p.Ser2498Arg)
|
rs760977747
|
0.00004
|
|
NM_206933.4(USH2A):c.7537T>G (p.Ser2513Ala)
|
rs375987841
|
0.00004
|
|
NM_206933.4(USH2A):c.754G>T (p.Gly252Cys)
|
rs777682016
|
0.00004
|
|
NM_206933.4(USH2A):c.7595-2144A>G
|
rs786200928
|
0.00004
|
|
NM_206933.4(USH2A):c.802G>A (p.Gly268Arg)
|
rs111033280
|
0.00004
|
|
NM_206933.4(USH2A):c.8146G>A (p.Glu2716Lys)
|
rs531822235
|
0.00004
|
|
NM_206933.4(USH2A):c.8234A>G (p.Lys2745Arg)
|
rs753212183
|
0.00004
|
|
NM_206933.4(USH2A):c.8893A>G (p.Ser2965Gly)
|
rs373107700
|
0.00004
|
|
NM_206933.4(USH2A):c.908G>A (p.Arg303His)
|
rs371777049
|
0.00004
|
|
NM_206933.4(USH2A):c.9240C>A (p.Phe3080Leu)
|
rs397518044
|
0.00004
|
|
NM_206933.4(USH2A):c.9570+1G>A
|
rs760225886
|
0.00004
|
|
NM_206933.4(USH2A):c.9611A>G (p.His3204Arg)
|
rs745539518
|
0.00004
|
|
NM_206933.4(USH2A):c.9917G>A (p.Cys3306Tyr)
|
rs758614136
|
0.00004
|
|
NR_003051.3(RMRP):n.-25_-3dup
|
rs1554651413
|
0.00004
|
|
NR_003051.4(RMRP):n.172G>A
|
rs995230090
|
0.00004
|
|
NR_003051.4(RMRP):n.196dup
|
rs796065036
|
0.00004
|
|
NM_000019.4(ACAT1):c.1006-2A>C
|
rs145229472
|
0.00003
|
|
NM_000019.4(ACAT1):c.1028A>G (p.Lys343Arg)
|
rs149171104
|
0.00003
|
|
NM_000019.4(ACAT1):c.709C>A (p.Pro237Thr)
|
rs754478568
|
0.00003
|
|
NM_000019.4(ACAT1):c.967A>G (p.Ile323Val)
|
rs1282394804
|
0.00003
|
|
NM_000023.4(SGCA):c.1091A>G (p.Asn364Ser)
|
rs756912039
|
0.00003
|
|
NM_000023.4(SGCA):c.1133C>T (p.Ala378Val)
|
rs751466306
|
0.00003
|
|
NM_000023.4(SGCA):c.221G>A (p.Arg74Gln)
|
rs779439298
|
0.00003
|
|
NM_000023.4(SGCA):c.293G>A (p.Arg98His)
|
rs137852621
|
0.00003
|
|
NM_000023.4(SGCA):c.34G>A (p.Val12Met)
|
rs766209304
|
0.00003
|
|
NM_000023.4(SGCA):c.371T>C (p.Ile124Thr)
|
rs768814872
|
0.00003
|
|
NM_000023.4(SGCA):c.522C>T (p.Asn174=)
|
rs148960833
|
0.00003
|
|
NM_000023.4(SGCA):c.551G>A (p.Arg184His)
|
rs142169382
|
0.00003
|
|
NM_000057.4(BLM):c.1245T>C (p.Asp415=)
|
rs768154708
|
0.00003
|
|
NM_000057.4(BLM):c.129A>G (p.Ser43=)
|
rs767605181
|
0.00003
|
|
NM_000057.4(BLM):c.1387G>A (p.Val463Ile)
|
rs1028963834
|
0.00003
|
|
NM_000057.4(BLM):c.1396G>A (p.Gly466Arg)
|
rs747760482
|
0.00003
|
|
NM_000057.4(BLM):c.1936A>G (p.Ser646Gly)
|
rs370293537
|
0.00003
|
|
NM_000057.4(BLM):c.2106T>A (p.Pro702=)
|
rs529421306
|
0.00003
|
|
NM_000057.4(BLM):c.2594A>G (p.Tyr865Cys)
|
rs777842626
|
0.00003
|
|
NM_000057.4(BLM):c.2822A>G (p.Gln941Arg)
|
rs762267785
|
0.00003
|
|
NM_000057.4(BLM):c.2840T>C (p.Ile947Thr)
|
rs1024172175
|
0.00003
|
|
NM_000057.4(BLM):c.3210+2del
|
rs587779886
|
0.00003
|
|
NM_000057.4(BLM):c.3422A>G (p.Asn1141Ser)
|
rs770370129
|
0.00003
|
|
NM_000057.4(BLM):c.345G>A (p.Pro115=)
|
rs374578971
|
0.00003
|
|
NM_000057.4(BLM):c.3501G>A (p.Ala1167=)
|
rs752559933
|
0.00003
|
|
NM_000057.4(BLM):c.3729C>T (p.Thr1243=)
|
rs747293738
|
0.00003
|
|
NM_000057.4(BLM):c.3921C>T (p.Pro1307=)
|
rs149286215
|
0.00003
|
|
NM_000057.4(BLM):c.3922G>A (p.Gly1308Arg)
|
rs768010078
|
0.00003
|
|
NM_000057.4(BLM):c.403G>T (p.Ala135Ser)
|
rs373832397
|
0.00003
|
|
NM_000057.4(BLM):c.4112C>T (p.Thr1371Met)
|
rs587779891
|
0.00003
|
|
NM_000057.4(BLM):c.4240T>C (p.Tyr1414His)
|
rs753800694
|
0.00003
|
|
NM_000057.4(BLM):c.820A>G (p.Asn274Asp)
|
rs750551907
|
0.00003
|
|
NM_000070.3(CAPN3):c.1077G>A (p.Pro359=)
|
rs759384108
|
0.00003
|
|
NM_000070.3(CAPN3):c.143G>A (p.Ser48Asn)
|
rs767281996
|
0.00003
|
|
NM_000070.3(CAPN3):c.1800+5G>A
|
rs373194123
|
0.00003
|
|
NM_000070.3(CAPN3):c.1993-1G>A
|
rs369552114
|
0.00003
|
|
NM_000070.3(CAPN3):c.19G>A (p.Ala7Thr)
|
rs776827432
|
0.00003
|
|
NM_000070.3(CAPN3):c.2236G>A (p.Glu746Lys)
|
rs752155690
|
0.00003
|
|
NM_000070.3(CAPN3):c.478G>A (p.Ala160Thr)
|
rs749697583
|
0.00003
|
|
NM_000070.3(CAPN3):c.52C>T (p.Arg18Trp)
|
rs764247865
|
0.00003
|
|
NM_000070.3(CAPN3):c.802-9G>A
|
rs761211705
|
0.00003
|
|
NM_000070.3(CAPN3):c.938C>T (p.Pro313Leu)
|
rs752483058
|
0.00003
|
|
NM_000231.3(SGCG):c.1-3C>T
|
rs373335254
|
0.00003
|
|
NM_000231.3(SGCG):c.197C>A (p.Ala66Glu)
|
rs752603127
|
0.00003
|
|
NM_000232.5(SGCB):c.752C>T (p.Ala251Val)
|
rs146111013
|
0.00003
|
|
NM_000243.3(MEFV):c.1066C>G (p.Gln356Glu)
|
rs377754606
|
0.00003
|
|
NM_000243.3(MEFV):c.1179C>T (p.Pro393=)
|
rs104895082
|
0.00003
|
|
NM_000243.3(MEFV):c.1324T>A (p.Ser442Thr)
|
rs779558690
|
0.00003
|
|
NM_000243.3(MEFV):c.1758T>C (p.Asn586=)
|
rs202228332
|
0.00003
|
|
NM_000243.3(MEFV):c.1803T>A (p.Ile601=)
|
rs779572391
|
0.00003
|
|
NM_000243.3(MEFV):c.1938G>A (p.Pro646=)
|
rs104895160
|
0.00003
|
|
NM_000243.3(MEFV):c.195C>T (p.Tyr65=)
|
rs104895077
|
0.00003
|
|
NM_000243.3(MEFV):c.2164G>A (p.Val722Met)
|
rs104895201
|
0.00003
|
|
NM_000243.3(MEFV):c.2263A>G (p.Ile755Val)
|
rs104895194
|
0.00003
|
|
NM_000243.3(MEFV):c.456G>A (p.Gly152=)
|
rs368333568
|
0.00003
|
|
NM_000243.3(MEFV):c.475A>G (p.Ser159Gly)
|
rs797001768
|
0.00003
|
|
NM_000243.3(MEFV):c.489G>T (p.Glu163Asp)
|
rs759997694
|
0.00003
|
|
NM_000243.3(MEFV):c.539C>T (p.Pro180Leu)
|
rs104895134
|
0.00003
|
|
NM_000243.3(MEFV):c.574A>G (p.Arg192Gly)
|
rs745839954
|
0.00003
|
|
NM_000243.3(MEFV):c.64G>A (p.Glu22Lys)
|
rs145289162
|
0.00003
|
|
NM_000260.4(MYO7A):c.1053G>A (p.Ser351=)
|
rs187679481
|
0.00003
|
|
NM_000260.4(MYO7A):c.1186G>A (p.Asp396Asn)
|
rs375867186
|
0.00003
|
|
NM_000260.4(MYO7A):c.2056C>T (p.Arg686Cys)
|
rs782364394
|
0.00003
|
|
NM_000260.4(MYO7A):c.2146C>G (p.His716Asp)
|
rs886048676
|
0.00003
|
|
NM_000260.4(MYO7A):c.218T>C (p.Leu73Pro)
|
rs372188355
|
0.00003
|
|
NM_000260.4(MYO7A):c.2427G>T (p.Gln809His)
|
rs782650544
|
0.00003
|
|
NM_000260.4(MYO7A):c.2656G>A (p.Ala886Thr)
|
rs782726270
|
0.00003
|
|
NM_000260.4(MYO7A):c.2717G>A (p.Arg906His)
|
rs868977760
|
0.00003
|
|
NM_000260.4(MYO7A):c.2836A>C (p.Met946Leu)
|
rs1357072694
|
0.00003
|
|
NM_000260.4(MYO7A):c.2920C>T (p.Arg974Trp)
|
rs782582076
|
0.00003
|
|
NM_000260.4(MYO7A):c.3013G>A (p.Ala1005Thr)
|
rs782471298
|
0.00003
|
|
NM_000260.4(MYO7A):c.3014C>T (p.Ala1005Val)
|
rs113326082
|
0.00003
|
|
NM_000260.4(MYO7A):c.3568C>T (p.Arg1190Trp)
|
rs782011801
|
0.00003
|
|
NM_000260.4(MYO7A):c.358C>A (p.Arg120Ser)
|
rs397516302
|
0.00003
|
|
NM_000260.4(MYO7A):c.3659C>T (p.Pro1220Leu)
|
rs727504710
|
0.00003
|
|
NM_000260.4(MYO7A):c.3797A>G (p.Asp1266Gly)
|
rs781670345
|
0.00003
|
|
NM_000260.4(MYO7A):c.3829G>A (p.Ala1277Thr)
|
rs1956002675
|
0.00003
|
|
NM_000260.4(MYO7A):c.397C>A (p.His133Asn)
|
rs111033403
|
0.00003
|
|
NM_000260.4(MYO7A):c.4128G>C (p.Lys1376Asn)
|
rs370601111
|
0.00003
|
|
NM_000260.4(MYO7A):c.4222C>G (p.Arg1408Gly)
|
rs377391891
|
0.00003
|
|
NM_000260.4(MYO7A):c.440G>A (p.Arg147His)
|
rs111033512
|
0.00003
|
|
NM_000260.4(MYO7A):c.4647C>A (p.Thr1549=)
|
rs757971917
|
0.00003
|
|
NM_000260.4(MYO7A):c.4772G>A (p.Arg1591His)
|
rs771059248
|
0.00003
|
|
NM_000260.4(MYO7A):c.4910A>G (p.His1637Arg)
|
rs372054499
|
0.00003
|
|
NM_000260.4(MYO7A):c.4921G>A (p.Glu1641Lys)
|
rs767975012
|
0.00003
|
|
NM_000260.4(MYO7A):c.5162A>G (p.Tyr1721Cys)
|
rs1174776498
|
0.00003
|
|
NM_000260.4(MYO7A):c.5264C>T (p.Ala1755Val)
|
rs574917232
|
0.00003
|
|
NM_000260.4(MYO7A):c.5368C>T (p.Arg1790Cys)
|
rs777954362
|
0.00003
|
|
NM_000260.4(MYO7A):c.562C>G (p.Gln188Glu)
|
rs572959359
|
0.00003
|
|
NM_000260.4(MYO7A):c.6003G>A (p.Thr2001=)
|
rs775879461
|
0.00003
|
|
NM_000260.4(MYO7A):c.6092G>A (p.Arg2031Gln)
|
rs762258869
|
0.00003
|
|
NM_000260.4(MYO7A):c.6236G>A (p.Arg2079Gln)
|
rs765083332
|
0.00003
|
|
NM_000260.4(MYO7A):c.6439-2A>G
|
rs397516330
|
0.00003
|
|
NM_000260.4(MYO7A):c.658C>T (p.His220Tyr)
|
rs781857167
|
0.00003
|
|
NM_000271.5(NPC1):c.1221G>C (p.Gln407His)
|
rs765539977
|
0.00003
|
|
NM_000271.5(NPC1):c.1552C>T (p.Arg518Trp)
|
rs377515417
|
0.00003
|
|
NM_000271.5(NPC1):c.1869C>T (p.Thr623=)
|
rs1359876392
|
0.00003
|
|
NM_000271.5(NPC1):c.2130+10C>G
|
rs776389852
|
0.00003
|
|
NM_000271.5(NPC1):c.232C>T (p.Arg78Trp)
|
rs766822145
|
0.00003
|
|
NM_000271.5(NPC1):c.3527C>T (p.Thr1176Met)
|
rs558264503
|
0.00003
|
|
NM_000277.3(PAH):c.1068C>G (p.Tyr356Ter)
|
rs62516095
|
0.00003
|
|
NM_000277.3(PAH):c.1157A>G (p.Tyr386Cys)
|
rs62516141
|
0.00003
|
|
NM_000277.3(PAH):c.1256A>G (p.Gln419Arg)
|
rs752255985
|
0.00003
|
|
NM_000277.3(PAH):c.136G>A (p.Gly46Ser)
|
rs74603784
|
0.00003
|
|
NM_000277.3(PAH):c.168+5G>C
|
rs62507288
|
0.00003
|
|
NM_000277.3(PAH):c.2T>C (p.Met1Thr)
|
rs62508575
|
0.00003
|
|
NM_000277.3(PAH):c.311C>A (p.Ala104Asp)
|
rs62642929
|
0.00003
|
|
NM_000277.3(PAH):c.464G>A (p.Arg155His)
|
rs199475663
|
0.00003
|
|
NM_000277.3(PAH):c.526C>T (p.Arg176Ter)
|
rs199475575
|
0.00003
|
|
NM_000277.3(PAH):c.60+5G>T
|
rs62514895
|
0.00003
|
|
NM_000277.3(PAH):c.631C>A (p.Pro211Thr)
|
rs62514931
|
0.00003
|
|
NM_000277.3(PAH):c.71A>G (p.Tyr24Cys)
|
rs539994406
|
0.00003
|
|
NM_000277.3(PAH):c.745C>T (p.Leu249Phe)
|
rs74503222
|
0.00003
|
|
NM_000277.3(PAH):c.890G>A (p.Arg297His)
|
rs62642939
|
0.00003
|
|
NM_000277.3(PAH):c.916A>G (p.Ile306Val)
|
rs62642934
|
0.00003
|
|
NM_000277.3(PAH):c.965C>G (p.Ala322Gly)
|
rs62514958
|
0.00003
|
|
NM_000287.4(PEX6):c.1195G>A (p.Ala399Thr)
|
rs564483086
|
0.00003
|
|
NM_000287.4(PEX6):c.1207G>A (p.Asp403Asn)
|
rs535326039
|
0.00003
|
|
NM_000287.4(PEX6):c.1405C>T (p.Arg469Trp)
|
rs757334412
|
0.00003
|
|
NM_000287.4(PEX6):c.1495C>T (p.Leu499Phe)
|
rs769207892
|
0.00003
|
|
NM_000287.4(PEX6):c.152C>A (p.Ala51Glu)
|
rs931068715
|
0.00003
|
|
NM_000287.4(PEX6):c.1549C>T (p.Arg517Trp)
|
rs754790139
|
0.00003
|
|
NM_000287.4(PEX6):c.2735C>T (p.Ala912Val)
|
rs62641232
|
0.00003
|
|
NM_000287.4(PEX6):c.2866G>A (p.Ala956Thr)
|
rs774145857
|
0.00003
|
|
NM_000287.4(PEX6):c.412G>A (p.Val138Met)
|
rs763313055
|
0.00003
|
|
NM_000287.4(PEX6):c.781C>T (p.Pro261Ser)
|
rs758866060
|
0.00003
|
|
NM_000287.4(PEX6):c.821C>T (p.Pro274Leu)
|
rs61753219
|
0.00003
|
|
NM_000287.4(PEX6):c.904G>A (p.Ala302Thr)
|
rs368503571
|
0.00003
|
|
NM_000288.4(PEX7):c.903+8A>G
|
rs779919482
|
0.00003
|
|
NM_000317.3(PTS):c.370G>T (p.Val124Leu)
|
rs150726932
|
0.00003
|
|
NM_000318.3(PEX2):c.374G>A (p.Arg125Gln)
|
rs199845625
|
0.00003
|
|
NM_000318.3(PEX2):c.551G>A (p.Cys184Tyr)
|
rs1266603500
|
0.00003
|
|
NM_000318.3(PEX2):c.716C>T (p.Thr239Ile)
|
rs1264938864
|
0.00003
|
|
NM_000329.3(RPE65):c.118G>A (p.Gly40Ser)
|
rs61751281
|
0.00003
|
|
NM_000329.3(RPE65):c.1543C>T (p.Arg515Trp)
|
rs121917745
|
0.00003
|
|
NM_000329.3(RPE65):c.524A>G (p.Asn175Ser)
|
rs771863086
|
0.00003
|
|
NM_000360.4(TH):c.*8G>C
|
rs761910662
|
0.00003
|
|
NM_000360.4(TH):c.1102A>T (p.Thr368Ser)
|
rs537643329
|
0.00003
|
|
NM_000360.4(TH):c.1297G>A (p.Val433Met)
|
rs772641972
|
0.00003
|
|
NM_000360.4(TH):c.171C>T (p.Ala57=)
|
rs771152796
|
0.00003
|
|
NM_000360.4(TH):c.225G>A (p.Glu75=)
|
rs558597025
|
0.00003
|
|
NM_000360.4(TH):c.365G>A (p.Arg122Gln)
|
rs201093528
|
0.00003
|
|
NM_000360.4(TH):c.66C>T (p.Asp22=)
|
rs377073512
|
0.00003
|
|
NM_000360.4(TH):c.90+13G>A
|
rs77140743
|
0.00003
|
|
NM_000360.4(TH):c.91-853C>T
|
rs756331878
|
0.00003
|
|
NM_000370.3(TTPA):c.221A>G (p.Tyr74Cys)
|
rs368131865
|
0.00003
|
|
NM_000382.3(ALDH3A2):c.378C>T (p.Ile126=)
|
rs1555532936
|
0.00003
|
|
NM_000382.3(ALDH3A2):c.551C>T (p.Thr184Met)
|
rs72547562
|
0.00003
|
|
NM_000382.3(ALDH3A2):c.943C>T (p.Pro315Ser)
|
rs72547571
|
0.00003
|
|
NM_000441.2(SLC26A4):c.1363A>T (p.Ile455Phe)
|
rs375576481
|
0.00003
|
|
NM_000441.2(SLC26A4):c.1740G>A (p.Lys580=)
|
rs573894071
|
0.00003
|
|
NM_000441.2(SLC26A4):c.1996T>A (p.Ser666Thr)
|
rs397516425
|
0.00003
|
|
NM_000441.2(SLC26A4):c.2089+1G>A
|
rs727503430
|
0.00003
|
|
NM_000441.2(SLC26A4):c.2162C>T (p.Thr721Met)
|
rs121908363
|
0.00003
|
|
NM_000441.2(SLC26A4):c.2292G>A (p.Thr764=)
|
rs139556627
|
0.00003
|
|
NM_000441.2(SLC26A4):c.871C>T (p.Arg291Trp)
|
rs775610413
|
0.00003
|
|
NM_000466.3(PEX1):c.1281T>C (p.His427=)
|
rs979077056
|
0.00003
|
|
NM_000466.3(PEX1):c.1913A>C (p.Glu638Ala)
|
rs775544654
|
0.00003
|
|
NM_000466.3(PEX1):c.2240A>C (p.Glu747Ala)
|
rs200207576
|
0.00003
|
|
NM_000466.3(PEX1):c.3068C>G (p.Ser1023Cys)
|
rs547203417
|
0.00003
|
|
NM_000466.3(PEX1):c.544C>T (p.Arg182Cys)
|
rs771535312
|
0.00003
|
|
NM_000466.3(PEX1):c.721T>C (p.Ser241Pro)
|
rs753823218
|
0.00003
|
|
NM_000466.3(PEX1):c.889A>G (p.Ile297Val)
|
rs181796768
|
0.00003
|
|
NM_000492.4(CFTR):c.1125A>C (p.Leu375Phe)
|
rs73215912
|
0.00003
|
|
NM_000492.4(CFTR):c.1247A>G (p.Asn416Ser)
|
rs777850419
|
0.00003
|
|
NM_000492.4(CFTR):c.1429C>T (p.Pro477Ser)
|
rs139054556
|
0.00003
|
|
NM_000492.4(CFTR):c.1450C>T (p.His484Tyr)
|
rs397508210
|
0.00003
|
|
NM_000492.4(CFTR):c.1500C>A (p.Gly500=)
|
rs762619288
|
0.00003
|
|
NM_000492.4(CFTR):c.1932C>G (p.Leu644=)
|
rs779674687
|
0.00003
|
|
NM_000492.4(CFTR):c.2374C>G (p.Arg792Gly)
|
rs145449046
|
0.00003
|
|
NM_000492.4(CFTR):c.246G>A (p.Met82Ile)
|
rs1159096947
|
0.00003
|
|
NM_000492.4(CFTR):c.3177A>G (p.Leu1059=)
|
rs1800113
|
0.00003
|
|
NM_000492.4(CFTR):c.3473G>A (p.Arg1158Gln)
|
rs763401376
|
0.00003
|
|
NM_000492.4(CFTR):c.365A>G (p.Tyr122Cys)
|
rs377295859
|
0.00003
|
|
NM_000492.4(CFTR):c.3767C>T (p.Ala1256Val)
|
rs773852510
|
0.00003
|
|
NM_000492.4(CFTR):c.4091C>T (p.Ala1364Val)
|
rs397508670
|
0.00003
|
|
NM_000492.4(CFTR):c.489+8T>G
|
rs727504712
|
0.00003
|
|
NM_000492.4(CFTR):c.634A>G (p.Met212Val)
|
rs540269075
|
0.00003
|
|
NM_000492.4(CFTR):c.697C>G (p.Leu233Val)
|
rs775713428
|
0.00003
|
|
NM_000525.4(KCNJ11):c.579C>T (p.His193=)
|
rs762089425
|
0.00003
|
|
NM_000543.5(SMPD1):c.1010A>G (p.Asn337Ser)
|
rs761144309
|
0.00003
|
|
NM_000543.5(SMPD1):c.1431G>A (p.Pro477=)
|
rs138588535
|
0.00003
|
|
NM_000543.5(SMPD1):c.558G>A (p.Pro186=)
|
rs1464825418
|
0.00003
|
|
NM_000784.4(CYP27A1):c.1055C>T (p.Ser352Leu)
|
rs780927834
|
0.00003
|
|
NM_000784.4(CYP27A1):c.1148T>A (p.Met383Lys)
|
rs539356203
|
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_000784.4(CYP27A1):c.624C>T (p.Leu208=)
|
rs200060245
|
0.00003
|
|
NM_000784.4(CYP27A1):c.886C>T (p.Gln296Ter)
|
rs575064188
|
0.00003
|
|
NM_001017420.3(ESCO2):c.1674-9_1674-7del
|
rs778526413
|
0.00003
|
|
NM_001017420.3(ESCO2):c.684G>A (p.Pro228=)
|
rs146523589
|
0.00003
|
|
NM_001039958.2(MESP2):c.207G>T (p.Thr69=)
|
rs571669966
|
0.00003
|
|
NM_001122769.3(LCA5):c.1099-9G>A
|
rs546754454
|
0.00003
|
|
NM_001122769.3(LCA5):c.1668C>T (p.Tyr556=)
|
rs376479835
|
0.00003
|
|
NM_001122769.3(LCA5):c.827A>G (p.Lys276Arg)
|
rs368131181
|
0.00003
|
|
NM_001122769.3(LCA5):c.897T>C (p.Ser299=)
|
rs767145624
|
0.00003
|
|
NM_001127671.2(LIFR):c.1221T>C (p.Asn407=)
|
rs372077841
|
0.00003
|
|
NM_001127671.2(LIFR):c.15C>T (p.Tyr5=)
|
rs778287994
|
0.00003
|
|
NM_001127671.2(LIFR):c.1965C>T (p.Cys655=)
|
rs767618083
|
0.00003
|
|
NM_001127671.2(LIFR):c.2445A>G (p.Thr815=)
|
rs570053542
|
0.00003
|
|
NM_001127671.2(LIFR):c.2670+6C>G
|
rs898718526
|
0.00003
|
|
NM_001130987.2(DYSF):c.126C>T (p.Ser42=)
|
rs369755508
|
0.00003
|
|
NM_001130987.2(DYSF):c.1549A>T (p.Ile517Phe)
|
rs765472161
|
0.00003
|
|
NM_001130987.2(DYSF):c.1577-1646C>T
|
rs763227235
|
0.00003
|
|
NM_001130987.2(DYSF):c.1721T>C (p.Leu574Pro)
|
rs200916654
|
0.00003
|
|
NM_001130987.2(DYSF):c.2038T>A (p.Ser680Thr)
|
rs765027098
|
0.00003
|
|
NM_001130987.2(DYSF):c.2105G>A (p.Arg702Gln)
|
rs749488054
|
0.00003
|
|
NM_001130987.2(DYSF):c.2216+6G>C
|
rs747059895
|
0.00003
|
|
NM_001130987.2(DYSF):c.2392C>T (p.Arg798Cys)
|
rs377196032
|
0.00003
|
|
NM_001130987.2(DYSF):c.240-7C>T
|
rs746083673
|
0.00003
|
|
NM_001130987.2(DYSF):c.2482C>T (p.Pro828Ser)
|
rs146819460
|
0.00003
|
|
NM_001130987.2(DYSF):c.2506C>T (p.Arg836Trp)
|
rs749002214
|
0.00003
|
|
NM_001130987.2(DYSF):c.2611C>T (p.Arg871Trp)
|
rs749542779
|
0.00003
|
|
NM_001130987.2(DYSF):c.2744C>T (p.Thr915Met)
|
rs769739410
|
0.00003
|
|
NM_001130987.2(DYSF):c.3013G>C (p.Glu1005Gln)
|
rs763925689
|
0.00003
|
|
NM_001130987.2(DYSF):c.3328C>T (p.Arg1110Cys)
|
rs758284713
|
0.00003
|
|
NM_001130987.2(DYSF):c.3442G>A (p.Val1148Ile)
|
rs148925399
|
0.00003
|
|
NM_001130987.2(DYSF):c.346G>A (p.Ala116Thr)
|
rs748951363
|
0.00003
|
|
NM_001130987.2(DYSF):c.3506G>A (p.Arg1169His)
|
rs780134612
|
0.00003
|
|
NM_001130987.2(DYSF):c.3538C>T (p.Arg1180Trp)
|
rs759297236
|
0.00003
|
|
NM_001130987.2(DYSF):c.3716C>T (p.Pro1239Leu)
|
rs368556029
|
0.00003
|
|
NM_001130987.2(DYSF):c.3886C>T (p.Gln1296Ter)
|
rs727503911
|
0.00003
|
|
NM_001130987.2(DYSF):c.3899C>T (p.Pro1300Leu)
|
rs767190885
|
0.00003
|
|
NM_001130987.2(DYSF):c.4015G>T (p.Val1339Phe)
|
rs767889531
|
0.00003
|
|
NM_001130987.2(DYSF):c.413C>T (p.Thr138Ile)
|
rs766841136
|
0.00003
|
|
NM_001130987.2(DYSF):c.4280G>A (p.Arg1427His)
|
rs758688467
|
0.00003
|
|
NM_001130987.2(DYSF):c.4303G>A (p.Val1435Met)
|
rs766924837
|
0.00003
|
|
NM_001130987.2(DYSF):c.432G>A (p.Pro144=)
|
rs542176164
|
0.00003
|
|
NM_001130987.2(DYSF):c.4423C>T (p.Leu1475Phe)
|
rs367709130
|
0.00003
|
|
NM_001130987.2(DYSF):c.4425C>T (p.Leu1475=)
|
rs371231895
|
0.00003
|
|
NM_001130987.2(DYSF):c.4755+10C>T
|
rs139099979
|
0.00003
|
|
NM_001130987.2(DYSF):c.4802dup (p.Met1601fs)
|
rs778065845
|
0.00003
|
|
NM_001130987.2(DYSF):c.5206C>T (p.Arg1736Cys)
|
rs758206608
|
0.00003
|
|
NM_001130987.2(DYSF):c.5363G>A (p.Arg1788His)
|
rs531935195
|
0.00003
|
|
NM_001130987.2(DYSF):c.6321G>A (p.Pro2107=)
|
rs139267208
|
0.00003
|
|
NM_001173990.3(TMEM216):c.405G>A (p.Glu135=)
|
rs748486939
|
0.00003
|
|
NM_001378454.1(ALMS1):c.10985A>G (p.Glu3662Gly)
|
rs377418428
|
0.00003
|
|
NM_001378454.1(ALMS1):c.11332A>G (p.Arg3778Gly)
|
rs773130069
|
0.00003
|
|
NM_001378454.1(ALMS1):c.11365C>T (p.Arg3789Trp)
|
rs752623561
|
0.00003
|
|
NM_001378454.1(ALMS1):c.11798G>A (p.Arg3933His)
|
rs45576434
|
0.00003
|
|
NM_001378454.1(ALMS1):c.11854A>G (p.Lys3952Glu)
|
rs771282076
|
0.00003
|
|
NM_001378454.1(ALMS1):c.11959T>C (p.Trp3987Arg)
|
rs375540445
|
0.00003
|
|
NM_001378454.1(ALMS1):c.12076A>G (p.Arg4026Gly)
|
rs754439156
|
0.00003
|
|
NM_001378454.1(ALMS1):c.12152G>A (p.Arg4051His)
|
rs750598025
|
0.00003
|
|
NM_001378454.1(ALMS1):c.12198G>A (p.Arg4066=)
|
rs199603690
|
0.00003
|
|
NM_001378454.1(ALMS1):c.12350A>G (p.Gln4117Arg)
|
rs200038446
|
0.00003
|
|
NM_001378454.1(ALMS1):c.12354G>A (p.Arg4118=)
|
rs546745992
|
0.00003
|
|
NM_001378454.1(ALMS1):c.1607C>G (p.Thr536Ser)
|
rs766105909
|
0.00003
|
|
NM_001378454.1(ALMS1):c.169G>A (p.Asp57Asn)
|
rs773881728
|
0.00003
|
|
NM_001378454.1(ALMS1):c.1773C>T (p.Asp591=)
|
rs369744185
|
0.00003
|
|
NM_001378454.1(ALMS1):c.2103A>C (p.Pro701=)
|
rs750362630
|
0.00003
|
|
NM_001378454.1(ALMS1):c.2107G>C (p.Asp703His)
|
rs756176783
|
0.00003
|
|
NM_001378454.1(ALMS1):c.2122A>G (p.Thr708Ala)
|
rs571389435
|
0.00003
|
|
NM_001378454.1(ALMS1):c.2128A>G (p.Thr710Ala)
|
rs367641723
|
0.00003
|
|
NM_001378454.1(ALMS1):c.2134C>G (p.Leu712Val)
|
rs371524359
|
0.00003
|
|
NM_001378454.1(ALMS1):c.2285G>C (p.Ser762Thr)
|
rs768930001
|
0.00003
|
|
NM_001378454.1(ALMS1):c.2486A>G (p.His829Arg)
|
rs370830603
|
0.00003
|
|
NM_001378454.1(ALMS1):c.2515G>A (p.Ala839Thr)
|
rs1356972872
|
0.00003
|
|
NM_001378454.1(ALMS1):c.3412A>G (p.Thr1138Ala)
|
rs201884768
|
0.00003
|
|
NM_001378454.1(ALMS1):c.4447A>G (p.Ile1483Val)
|
rs749573527
|
0.00003
|
|
NM_001378454.1(ALMS1):c.4795A>G (p.Ile1599Val)
|
rs377671796
|
0.00003
|
|
NM_001378454.1(ALMS1):c.4856C>T (p.Ala1619Val)
|
rs1085307684
|
0.00003
|
|
NM_001378454.1(ALMS1):c.4883A>G (p.Tyr1628Cys)
|
rs375939859
|
0.00003
|
|
NM_001378454.1(ALMS1):c.5724G>C (p.Gln1908His)
|
rs779739318
|
0.00003
|
|
NM_001378454.1(ALMS1):c.587C>T (p.Thr196Met)
|
rs562345472
|
0.00003
|
|
NM_001378454.1(ALMS1):c.651A>G (p.Ile217Met)
|
rs774831792
|
0.00003
|
|
NM_001378454.1(ALMS1):c.6707C>T (p.Pro2236Leu)
|
rs201737248
|
0.00003
|
|
NM_001378454.1(ALMS1):c.6937A>G (p.Asn2313Asp)
|
rs766346478
|
0.00003
|
|
NM_001378454.1(ALMS1):c.6976A>G (p.Ser2326Gly)
|
rs560736902
|
0.00003
|
|
NM_001378454.1(ALMS1):c.7040G>T (p.Gly2347Val)
|
rs752336806
|
0.00003
|
|
NM_001378454.1(ALMS1):c.7199G>A (p.Gly2400Glu)
|
rs373985919
|
0.00003
|
|
NM_001378454.1(ALMS1):c.7402A>G (p.Ser2468Gly)
|
rs1007457582
|
0.00003
|
|
NM_001378454.1(ALMS1):c.7983A>T (p.Glu2661Asp)
|
rs1213279792
|
0.00003
|
|
NM_001378454.1(ALMS1):c.8074A>G (p.Lys2692Glu)
|
rs201025991
|
0.00003
|
|
NM_001378454.1(ALMS1):c.8122A>C (p.Met2708Leu)
|
rs371904071
|
0.00003
|
|
NM_001378454.1(ALMS1):c.8257C>A (p.His2753Asn)
|
rs200718841
|
0.00003
|
|
NM_001378454.1(ALMS1):c.8489G>A (p.Cys2830Tyr)
|
rs369720907
|
0.00003
|
|
NM_001378454.1(ALMS1):c.8890A>G (p.Ile2964Val)
|
rs529506570
|
0.00003
|
|
NM_001378454.1(ALMS1):c.8920C>T (p.Pro2974Ser)
|
rs1043429291
|
0.00003
|
|
NM_001378454.1(ALMS1):c.9460A>T (p.Thr3154Ser)
|
rs553507775
|
0.00003
|
|
NM_001378454.1(ALMS1):c.9565C>T (p.Leu3189Phe)
|
rs376367125
|
0.00003
|
|
NM_001384140.1(PCDH15):c.128T>C (p.Ile43Thr)
|
rs766772151
|
0.00003
|
|
NM_001384140.1(PCDH15):c.1327C>G (p.Leu443Val)
|
rs779957406
|
0.00003
|
|
NM_001384140.1(PCDH15):c.1427C>T (p.Thr476Ile)
|
rs967946862
|
0.00003
|
|
NM_001384140.1(PCDH15):c.146A>G (p.Glu49Gly)
|
rs184026653
|
0.00003
|
|
NM_001384140.1(PCDH15):c.1985A>G (p.Asn662Ser)
|
rs373731707
|
0.00003
|
|
NM_001384140.1(PCDH15):c.2082G>A (p.Arg694=)
|
rs756484846
|
0.00003
|
|
NM_001384140.1(PCDH15):c.3521G>A (p.Gly1174Asp)
|
rs150387187
|
0.00003
|
|
NM_001384140.1(PCDH15):c.4319C>T (p.Pro1440Leu)
|
rs764173741
|
0.00003
|
|
NM_001384140.1(PCDH15):c.466G>C (p.Val156Leu)
|
rs534173969
|
0.00003
|
|
NM_001384140.1(PCDH15):c.470A>G (p.Asn157Ser)
|
rs727503368
|
0.00003
|
|
NM_001384140.1(PCDH15):c.679C>T (p.Arg227Cys)
|
rs565693539
|
0.00003
|
|
NM_001384140.1(PCDH15):c.809T>G (p.Leu270Arg)
|
rs727503367
|
0.00003
|
|
NM_001384140.1(PCDH15):c.969C>A (p.Leu323=)
|
rs994026891
|
0.00003
|
|
NM_001384474.1(LOXHD1):c.1605A>G (p.Ile535Met)
|
rs770710016
|
0.00003
|
|
NM_001384474.1(LOXHD1):c.1828G>A (p.Glu610Lys)
|
rs535637788
|
0.00003
|
|
NM_001384474.1(LOXHD1):c.2288C>T (p.Ala763Val)
|
rs876657858
|
0.00003
|
|
NM_001384474.1(LOXHD1):c.277G>A (p.Asp93Asn)
|
rs747038125
|
0.00003
|
|
NM_001384474.1(LOXHD1):c.3218C>G (p.Thr1073Arg)
|
rs1353205519
|
0.00003
|
|
NM_001384474.1(LOXHD1):c.5623G>A (p.Val1875Ile)
|
rs367623969
|
0.00003
|
|
NM_001384474.1(LOXHD1):c.5628C>T (p.Ile1876=)
|
rs149705118
|
0.00003
|
|
NM_001384474.1(LOXHD1):c.5942T>C (p.Phe1981Ser)
|
rs1005361609
|
0.00003
|
|
NM_001384474.1(LOXHD1):c.6068A>G (p.Glu2023Gly)
|
rs572863376
|
0.00003
|
|
NM_001384474.1(LOXHD1):c.760-2del
|
rs770408532
|
0.00003
|
|
NM_001386140.1(MTTP):c.1668C>T (p.Asp556=)
|
rs751421159
|
0.00003
|
|
NM_001386140.1(MTTP):c.1888A>G (p.Thr630Ala)
|
rs368679444
|
0.00003
|
|
NM_001386140.1(MTTP):c.2320T>G (p.Ser774Ala)
|
rs148362467
|
0.00003
|
|
NM_001386140.1(MTTP):c.2457T>G (p.Phe819Leu)
|
rs765341695
|
0.00003
|
|
NM_001386140.1(MTTP):c.430G>C (p.Ala144Pro)
|
rs1249405862
|
0.00003
|
|
NM_001692.4(ATP6V1B1):c.582T>C (p.Asn194=)
|
rs376089214
|
0.00003
|
|
NM_002454.3(MTRR):c.1080A>C (p.Ile360=)
|
rs969738618
|
0.00003
|
|
NM_002454.3(MTRR):c.208C>T (p.Arg70Cys)
|
rs374239028
|
0.00003
|
|
NM_002454.3(MTRR):c.246G>C (p.Pro82=)
|
rs149300444
|
0.00003
|
|
NM_002485.5(NBN):c.1789A>G (p.Ile597Val)
|
rs864622167
|
0.00003
|
|
NM_002485.5(NBN):c.2215C>G (p.Leu739Val)
|
rs370058152
|
0.00003
|
|
NM_002485.5(NBN):c.2226T>A (p.Asp742Glu)
|
rs767523514
|
0.00003
|
|
NM_002485.5(NBN):c.284A>G (p.Asp95Gly)
|
rs545276922
|
0.00003
|
|
NM_002485.5(NBN):c.302T>C (p.Val101Ala)
|
rs185493105
|
0.00003
|
|
NM_002485.5(NBN):c.335C>T (p.Pro112Leu)
|
rs759723870
|
0.00003
|
|
NM_002485.5(NBN):c.547G>A (p.Ala183Thr)
|
rs151070415
|
0.00003
|
|
NM_002485.5(NBN):c.613A>G (p.Ile205Val)
|
rs730881845
|
0.00003
|
|
NM_002485.5(NBN):c.80G>T (p.Gly27Val)
|
rs755171159
|
0.00003
|
|
NM_002485.5(NBN):c.897-2A>T
|
rs864622090
|
0.00003
|
|
NM_002485.5(NBN):c.935T>C (p.Leu312Ser)
|
rs371480039
|
0.00003
|
|
NM_002617.4(PEX10):c.111G>T (p.Ala37=)
|
rs1227962505
|
0.00003
|
|
NM_002617.4(PEX10):c.280G>A (p.Val94Met)
|
rs142626035
|
0.00003
|
|
NM_002617.4(PEX10):c.435G>A (p.Met145Ile)
|
rs368273118
|
0.00003
|
|
NM_002617.4(PEX10):c.652_657dup (p.Arg218_Leu219dup)
|
rs1432526114
|
0.00003
|
|
NM_002617.4(PEX10):c.724C>T (p.Arg242Trp)
|
rs745818681
|
0.00003
|
|
NM_002617.4(PEX10):c.730C>T (p.Arg244Ter)
|
rs61752092
|
0.00003
|
|
NM_003384.3(VRK1):c.1069-9A>G
|
rs767585930
|
0.00003
|
|
NM_003384.3(VRK1):c.1180G>A (p.Val394Ile)
|
rs1392561922
|
0.00003
|
|
NM_003384.3(VRK1):c.307C>T (p.Arg103Cys)
|
rs755450815
|
0.00003
|
|
NM_003494.4(DYSF):c.1486C>G (p.Pro496Ala)
|
rs368577086
|
0.00003
|
|
NM_004004.6(GJB2):c.-7G>A
|
rs398123813
|
0.00003
|
|
NM_004004.6(GJB2):c.169C>T (p.Gln57Ter)
|
rs111033297
|
0.00003
|
|
NM_004004.6(GJB2):c.298C>T (p.His100Tyr)
|
rs143343083
|
0.00003
|
|
NM_004004.6(GJB2):c.299_300del (p.His100fs)
|
rs111033204
|
0.00003
|
|
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr)
|
rs111033217
|
0.00003
|
|
NM_004004.6(GJB2):c.476A>T (p.Asp159Val)
|
rs28931592
|
0.00003
|
|
NM_004004.6(GJB2):c.488T>C (p.Met163Thr)
|
rs1273330603
|
0.00003
|
|
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs)
|
rs773528125
|
0.00003
|
|
NM_004004.6(GJB2):c.550C>T (p.Arg184Trp)
|
rs998045226
|
0.00003
|
|
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro)
|
rs80338950
|
0.00003
|
|
NM_006019.4(TCIRG1):c.1144C>T (p.Arg382Cys)
|
rs566684294
|
0.00003
|
|
NM_006019.4(TCIRG1):c.1843C>A (p.Leu615Ile)
|
rs753897523
|
0.00003
|
|
NM_006019.4(TCIRG1):c.2118+10G>A
|
rs775491643
|
0.00003
|
|
NM_006019.4(TCIRG1):c.2181C>T (p.Cys727=)
|
rs201017845
|
0.00003
|
|
NM_006019.4(TCIRG1):c.390C>T (p.Ala130=)
|
rs750132812
|
0.00003
|
|
NM_006118.4(HAX1):c.704G>A (p.Arg235Gln)
|
rs139138892
|
0.00003
|
|
NM_006432.5(NPC2):c.169G>A (p.Val57Ile)
|
rs774036281
|
0.00003
|
|
NM_007259.5(VPS45):c.1019G>A (p.Arg340Gln)
|
rs782749137
|
0.00003
|
|
NM_007259.5(VPS45):c.192A>T (p.Lys64Asn)
|
rs1441537795
|
0.00003
|
|
NM_014363.6(SACS):c.10181A>G (p.Asn3394Ser)
|
rs375898103
|
0.00003
|
|
NM_014363.6(SACS):c.10205A>G (p.Asp3402Gly)
|
rs543563990
|
0.00003
|
|
NM_014363.6(SACS):c.10255C>T (p.Arg3419Cys)
|
rs765758197
|
0.00003
|
|
NM_014363.6(SACS):c.10787C>T (p.Ser3596Phe)
|
rs755172172
|
0.00003
|
|
NM_014363.6(SACS):c.11309C>G (p.Ala3770Gly)
|
rs1170997950
|
0.00003
|
|
NM_014363.6(SACS):c.11886A>G (p.Ile3962Met)
|
rs1252737332
|
0.00003
|
|
NM_014363.6(SACS):c.159C>G (p.Arg53=)
|
rs968138431
|
0.00003
|
|
NM_014363.6(SACS):c.1886C>T (p.Ala629Val)
|
rs760505057
|
0.00003
|
|
NM_014363.6(SACS):c.1941G>T (p.Lys647Asn)
|
rs201021919
|
0.00003
|
|
NM_014363.6(SACS):c.2853C>A (p.His951Gln)
|
rs200644511
|
0.00003
|
|
NM_014363.6(SACS):c.4098G>C (p.Leu1366=)
|
rs200381539
|
0.00003
|
|
NM_014363.6(SACS):c.4318A>G (p.Ser1440Gly)
|
rs1172044277
|
0.00003
|
|
NM_014363.6(SACS):c.5458C>T (p.Leu1820=)
|
rs754748296
|
0.00003
|
|
NM_014363.6(SACS):c.5842G>A (p.Asp1948Asn)
|
rs772515267
|
0.00003
|
|
NM_014363.6(SACS):c.7497C>T (p.Val2499=)
|
rs774558627
|
0.00003
|
|
NM_014363.6(SACS):c.8539C>G (p.Leu2847Val)
|
rs760976439
|
0.00003
|
|
NM_014363.6(SACS):c.8693G>A (p.Arg2898His)
|
rs201977288
|
0.00003
|
|
NM_015474.4(SAMHD1):c.831A>T (p.Glu277Asp)
|
rs202019609
|
0.00003
|
|
NM_022124.6(CDH23):c.10007C>T (p.Pro3336Leu)
|
rs727504532
|
0.00003
|
|
NM_022124.6(CDH23):c.1685A>G (p.Gln562Arg)
|
rs397517311
|
0.00003
|
|
NM_022124.6(CDH23):c.2032G>A (p.Val678Ile)
|
rs547668692
|
0.00003
|
|
NM_022124.6(CDH23):c.2086A>G (p.Thr696Ala)
|
rs372874226
|
0.00003
|
|
NM_022124.6(CDH23):c.2524C>T (p.Arg842Trp)
|
rs368496658
|
0.00003
|
|
NM_022124.6(CDH23):c.255C>T (p.Gly85=)
|
rs763083679
|
0.00003
|
|
NM_022124.6(CDH23):c.259G>T (p.Val87Leu)
|
rs759917997
|
0.00003
|
|
NM_022124.6(CDH23):c.2789C>T (p.Pro930Leu)
|
rs763602387
|
0.00003
|
|
NM_022124.6(CDH23):c.2994C>T (p.Ala998=)
|
rs767831814
|
0.00003
|
|
NM_022124.6(CDH23):c.3172C>G (p.Leu1058Val)
|
rs748462315
|
0.00003
|
|
NM_022124.6(CDH23):c.325G>A (p.Asp109Asn)
|
rs199793172
|
0.00003
|
|
NM_022124.6(CDH23):c.3328A>G (p.Ser1110Gly)
|
rs757508152
|
0.00003
|
|
NM_022124.6(CDH23):c.3550G>A (p.Asp1184Asn)
|
rs397517325
|
0.00003
|
|
NM_022124.6(CDH23):c.3592G>A (p.Val1198Met)
|
rs774804095
|
0.00003
|
|
NM_022124.6(CDH23):c.3739C>T (p.Arg1247Cys)
|
rs202204597
|
0.00003
|
|
NM_022124.6(CDH23):c.3847G>A (p.Val1283Met)
|
rs758413650
|
0.00003
|
|
NM_022124.6(CDH23):c.3924C>T (p.Asp1308=)
|
rs776501112
|
0.00003
|
|
NM_022124.6(CDH23):c.4206+5G>A
|
rs768842900
|
0.00003
|
|
NM_022124.6(CDH23):c.4249C>T (p.Arg1417Trp)
|
rs756231829
|
0.00003
|
|
NM_022124.6(CDH23):c.4620C>T (p.Asn1540=)
|
rs111033490
|
0.00003
|
|
NM_022124.6(CDH23):c.5328C>T (p.Asn1776=)
|
rs371522191
|
0.00003
|
|
NM_022124.6(CDH23):c.550C>T (p.Arg184Cys)
|
rs779468414
|
0.00003
|
|
NM_022124.6(CDH23):c.559G>A (p.Val187Ile)
|
rs369624952
|
0.00003
|
|
NM_022124.6(CDH23):c.5610C>T (p.Val1870=)
|
rs568993739
|
0.00003
|
|
NM_022124.6(CDH23):c.5660C>T (p.Thr1887Ile)
|
rs397517340
|
0.00003
|
|
NM_022124.6(CDH23):c.5689C>T (p.Arg1897Trp)
|
rs750798211
|
0.00003
|
|
NM_022124.6(CDH23):c.5711C>T (p.Thr1904Met)
|
rs372981760
|
0.00003
|
|
NM_022124.6(CDH23):c.617A>C (p.Asn206Thr)
|
rs528880720
|
0.00003
|
|
NM_022124.6(CDH23):c.6556T>A (p.Ser2186Thr)
|
rs374194433
|
0.00003
|
|
NM_022124.6(CDH23):c.6559G>A (p.Ala2187Thr)
|
rs727504841
|
0.00003
|
|
NM_022124.6(CDH23):c.6855C>T (p.Asp2285=)
|
rs750385396
|
0.00003
|
|
NM_022124.6(CDH23):c.6870G>A (p.Thr2290=)
|
rs778092747
|
0.00003
|
|
NM_022124.6(CDH23):c.7466G>A (p.Arg2489His)
|
rs141986620
|
0.00003
|
|
NM_022124.6(CDH23):c.7634C>T (p.Thr2545Ile)
|
rs763947401
|
0.00003
|
|
NM_022124.6(CDH23):c.7769C>G (p.Pro2590Arg)
|
rs368781470
|
0.00003
|
|
NM_022124.6(CDH23):c.7822C>T (p.Arg2608Cys)
|
rs370922401
|
0.00003
|
|
NM_022124.6(CDH23):c.79C>T (p.Arg27Trp)
|
rs370760723
|
0.00003
|
|
NM_022124.6(CDH23):c.8054C>T (p.Ala2685Val)
|
rs750069887
|
0.00003
|
|
NM_022124.6(CDH23):c.8257G>A (p.Ala2753Thr)
|
rs397517356
|
0.00003
|
|
NM_022124.6(CDH23):c.8304C>T (p.Ile2768=)
|
rs760929762
|
0.00003
|
|
NM_022124.6(CDH23):c.8310C>T (p.Ala2770=)
|
rs749582906
|
0.00003
|
|
NM_022124.6(CDH23):c.8497C>T (p.Arg2833Cys)
|
rs760130862
|
0.00003
|
|
NM_022124.6(CDH23):c.8775C>T (p.Pro2925=)
|
rs766541944
|
0.00003
|
|
NM_022124.6(CDH23):c.8785G>A (p.Val2929Met)
|
rs781604742
|
0.00003
|
|
NM_022124.6(CDH23):c.9002G>A (p.Arg3001Gln)
|
rs111033467
|
0.00003
|
|
NM_022124.6(CDH23):c.9014C>G (p.Ala3005Gly)
|
rs188966938
|
0.00003
|
|
NM_022124.6(CDH23):c.9070G>A (p.Val3024Met)
|
rs370087572
|
0.00003
|
|
NM_022124.6(CDH23):c.9078G>C (p.Arg3026=)
|
rs727504725
|
0.00003
|
|
NM_022124.6(CDH23):c.9127C>T (p.Arg3043Trp)
|
rs375907609
|
0.00003
|
|
NM_022124.6(CDH23):c.9526G>A (p.Glu3176Lys)
|
rs771915739
|
0.00003
|
|
NM_022124.6(CDH23):c.9565C>T (p.Arg3189Trp)
|
rs121908353
|
0.00003
|
|
NM_022124.6(CDH23):c.9806G>A (p.Arg3269His)
|
rs747409066
|
0.00003
|
|
NM_024301.5(FKRP):c.1439A>T (p.Asn480Ile)
|
rs369666163
|
0.00003
|
|
NM_024301.5(FKRP):c.323T>C (p.Leu108Pro)
|
rs936866997
|
0.00003
|
|
NM_024301.5(FKRP):c.395G>C (p.Gly132Ala)
|
rs755588907
|
0.00003
|
|
NM_024301.5(FKRP):c.446G>A (p.Arg149His)
|
rs1449983261
|
0.00003
|
|
NM_024301.5(FKRP):c.524T>C (p.Leu175Pro)
|
rs1318966349
|
0.00003
|
|
NM_024301.5(FKRP):c.68A>G (p.Tyr23Cys)
|
rs201951207
|
0.00003
|
|
NM_024301.5(FKRP):c.757G>T (p.Ala253Ser)
|
rs959679901
|
0.00003
|
|
NM_024301.5(FKRP):c.797C>T (p.Ala266Val)
|
rs1276654268
|
0.00003
|
|
NM_024649.5(BBS1):c.1067G>A (p.Arg356His)
|
rs771291825
|
0.00003
|
|
NM_024649.5(BBS1):c.1338C>T (p.Thr446=)
|
rs368302072
|
0.00003
|
|
NM_024649.5(BBS1):c.190C>G (p.Gln64Glu)
|
rs369843749
|
0.00003
|
|
NM_024649.5(BBS1):c.332G>A (p.Cys111Tyr)
|
rs765960634
|
0.00003
|
|
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln)
|
rs376894444
|
0.00003
|
|
NM_024649.5(BBS1):c.726G>A (p.Met242Ile)
|
rs773588060
|
0.00003
|
|
NM_024685.4(BBS10):c.1154G>A (p.Gly385Asp)
|
rs774809155
|
0.00003
|
|
NM_024685.4(BBS10):c.1287T>C (p.Asp429=)
|
rs771468663
|
0.00003
|
|
NM_024685.4(BBS10):c.1325C>T (p.Thr442Ile)
|
rs780966013
|
0.00003
|
|
NM_024685.4(BBS10):c.1743G>A (p.Pro581=)
|
rs150530553
|
0.00003
|
|
NM_024685.4(BBS10):c.198-3C>T
|
rs779659204
|
0.00003
|
|
NM_024685.4(BBS10):c.462G>A (p.Leu154=)
|
rs764687344
|
0.00003
|
|
NM_024685.4(BBS10):c.908G>C (p.Ser303Thr)
|
rs1160564103
|
0.00003
|
|
NM_025114.4(CEP290):c.1359G>A (p.Ser453=)
|
rs779195306
|
0.00003
|
|
NM_025114.4(CEP290):c.1387G>A (p.Val463Ile)
|
rs558414868
|
0.00003
|
|
NM_025114.4(CEP290):c.1877G>A (p.Ser626Asn)
|
rs746124813
|
0.00003
|
|
NM_025114.4(CEP290):c.2029C>T (p.Pro677Ser)
|
rs375523390
|
0.00003
|
|
NM_025114.4(CEP290):c.3178A>G (p.Thr1060Ala)
|
rs948383352
|
0.00003
|
|
NM_025114.4(CEP290):c.3246C>T (p.His1082=)
|
rs539042966
|
0.00003
|
|
NM_025114.4(CEP290):c.3593C>T (p.Ser1198Leu)
|
rs372640024
|
0.00003
|
|
NM_025114.4(CEP290):c.4121A>G (p.Tyr1374Cys)
|
rs1337676817
|
0.00003
|
|
NM_025114.4(CEP290):c.4837C>G (p.Pro1613Ala)
|
rs769280708
|
0.00003
|
|
NM_025114.4(CEP290):c.534G>T (p.Gln178His)
|
rs368025801
|
0.00003
|
|
NM_025114.4(CEP290):c.5552A>T (p.Lys1851Ile)
|
rs372565248
|
0.00003
|
|
NM_025114.4(CEP290):c.5776C>A (p.Arg1926=)
|
rs561598805
|
0.00003
|
|
NM_025114.4(CEP290):c.7070A>G (p.Glu2357Gly)
|
rs759725378
|
0.00003
|
|
NM_025216.3(WNT10A):c.914G>A (p.Arg305His)
|
rs746769946
|
0.00003
|
|
NM_031885.5(BBS2):c.1120C>T (p.Arg374Trp)
|
rs143607562
|
0.00003
|
|
NM_031885.5(BBS2):c.1223A>G (p.Asn408Ser)
|
rs761864599
|
0.00003
|
|
NM_031885.5(BBS2):c.1237C>T (p.Arg413Ter)
|
rs147030232
|
0.00003
|
|
NM_031885.5(BBS2):c.1615C>T (p.Arg539Trp)
|
rs1175381219
|
0.00003
|
|
NM_031885.5(BBS2):c.1890T>C (p.Asp630=)
|
rs1176715641
|
0.00003
|
|
NM_031885.5(BBS2):c.1982G>A (p.Arg661His)
|
rs747686535
|
0.00003
|
|
NM_031885.5(BBS2):c.401C>G (p.Pro134Arg)
|
rs376306240
|
0.00003
|
|
NM_031885.5(BBS2):c.635T>C (p.Met212Thr)
|
rs764600063
|
0.00003
|
|
NM_031885.5(BBS2):c.72C>G (p.Tyr24Ter)
|
rs121908175
|
0.00003
|
|
NM_031885.5(BBS2):c.851A>G (p.Asn284Ser)
|
rs377749641
|
0.00003
|
|
NM_031885.5(BBS2):c.943C>T (p.Arg315Trp)
|
rs121908178
|
0.00003
|
|
NM_033056.4(PCDH15):c.5216A>T (p.Asn1739Ile)
|
rs772081755
|
0.00003
|
|
NM_033056.4(PCDH15):c.5236C>A (p.Pro1746Thr)
|
rs762526774
|
0.00003
|
|
NM_033056.4(PCDH15):c.5278C>A (p.Pro1760Thr)
|
rs397517464
|
0.00003
|
|
NM_033056.4(PCDH15):c.5283T>A (p.Ala1761=)
|
rs375134176
|
0.00003
|
|
NM_033056.4(PCDH15):c.5335C>T (p.Pro1779Ser)
|
rs1421385928
|
0.00003
|
|
NM_033056.4(PCDH15):c.5416C>T (p.Pro1806Ser)
|
rs750061228
|
0.00003
|
|
NM_033056.4(PCDH15):c.5755T>A (p.Cys1919Ser)
|
rs376353049
|
0.00003
|
|
NM_138694.4(PKHD1):c.10136del (p.Thr3379fs)
|
rs765209037
|
0.00003
|
|
NM_138694.4(PKHD1):c.10250G>A (p.Ser3417Asn)
|
rs778583323
|
0.00003
|
|
NM_138694.4(PKHD1):c.10637del (p.Val3546fs)
|
rs770461067
|
0.00003
|
|
NM_138694.4(PKHD1):c.11756C>T (p.Pro3919Leu)
|
rs775014599
|
0.00003
|
|
NM_138694.4(PKHD1):c.11883A>G (p.Arg3961=)
|
rs1165946143
|
0.00003
|
|
NM_138694.4(PKHD1):c.11931C>T (p.Ser3977=)
|
rs368081890
|
0.00003
|
|
NM_138694.4(PKHD1):c.12021C>G (p.Leu4007=)
|
rs761543328
|
0.00003
|
|
NM_138694.4(PKHD1):c.1254C>T (p.Ser418=)
|
rs1252381398
|
0.00003
|
|
NM_138694.4(PKHD1):c.1462C>T (p.Arg488Trp)
|
rs139770251
|
0.00003
|
|
NM_138694.4(PKHD1):c.1774C>T (p.Arg592Ter)
|
rs779050294
|
0.00003
|
|
NM_138694.4(PKHD1):c.2539G>A (p.Val847Met)
|
rs778864835
|
0.00003
|
|
NM_138694.4(PKHD1):c.262G>C (p.Val88Leu)
|
rs374447352
|
0.00003
|
|
NM_138694.4(PKHD1):c.3367G>A (p.Gly1123Ser)
|
rs142107837
|
0.00003
|
|
NM_138694.4(PKHD1):c.353del (p.Ser118fs)
|
rs398124483
|
0.00003
|
|
NM_138694.4(PKHD1):c.377G>A (p.Ser126Asn)
|
rs779094064
|
0.00003
|
|
NM_138694.4(PKHD1):c.3835G>A (p.Ala1279Thr)
|
rs201611688
|
0.00003
|
|
NM_138694.4(PKHD1):c.4011T>G (p.Asp1337Glu)
|
rs760893545
|
0.00003
|
|
NM_138694.4(PKHD1):c.4418A>G (p.Gln1473Arg)
|
rs780740862
|
0.00003
|
|
NM_138694.4(PKHD1):c.4845G>A (p.Thr1615=)
|
rs750233738
|
0.00003
|
|
NM_138694.4(PKHD1):c.5414A>G (p.Glu1805Gly)
|
rs377674026
|
0.00003
|
|
NM_138694.4(PKHD1):c.544G>A (p.Ala182Thr)
|
rs142346881
|
0.00003
|
|
NM_138694.4(PKHD1):c.7430T>G (p.Phe2477Cys)
|
rs1366295189
|
0.00003
|
|
NM_138694.4(PKHD1):c.7726A>G (p.Ile2576Val)
|
rs565528098
|
0.00003
|
|
NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter)
|
rs181208607
|
0.00003
|
|
NM_138694.4(PKHD1):c.8325A>C (p.Thr2775=)
|
rs753727582
|
0.00003
|
|
NM_152443.3(RDH12):c.139G>A (p.Ala47Thr)
|
rs761231974
|
0.00003
|
|
NM_152443.3(RDH12):c.146C>T (p.Thr49Met)
|
rs28940314
|
0.00003
|
|
NM_152443.3(RDH12):c.878G>C (p.Arg293Thr)
|
rs746131696
|
0.00003
|
|
NM_152618.3(BBS12):c.1092del (p.Glu365fs)
|
rs770218590
|
0.00003
|
|
NM_152618.3(BBS12):c.1303G>A (p.Gly435Ser)
|
rs762853916
|
0.00003
|
|
NM_152618.3(BBS12):c.1597G>A (p.Glu533Lys)
|
rs543608786
|
0.00003
|
|
NM_152618.3(BBS12):c.1931A>G (p.Asn644Ser)
|
rs777615072
|
0.00003
|
|
NM_153676.4(USH1C):c.121G>A (p.Val41Met)
|
rs780439529
|
0.00003
|
|
NM_153676.4(USH1C):c.163C>T (p.Arg55Cys)
|
rs117171411
|
0.00003
|
|
NM_153676.4(USH1C):c.1822C>T (p.Pro608Ser)
|
rs727505247
|
0.00003
|
|
NM_153676.4(USH1C):c.2374C>T (p.Arg792Trp)
|
rs200428926
|
0.00003
|
|
NM_153676.4(USH1C):c.502G>A (p.Gly168Ser)
|
rs1032568806
|
0.00003
|
|
NM_153676.4(USH1C):c.908G>A (p.Arg303Gln)
|
rs397517884
|
0.00003
|
|
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter)
|
rs121908425
|
0.00003
|
|
NM_153717.3(EVC):c.1059C>T (p.Ala353=)
|
rs756025432
|
0.00003
|
|
NM_153717.3(EVC):c.1482G>A (p.Leu494=)
|
rs371300088
|
0.00003
|
|
NM_153717.3(EVC):c.1652C>T (p.Pro551Leu)
|
rs371682994
|
0.00003
|
|
NM_153717.3(EVC):c.2649C>T (p.Val883=)
|
rs1483799016
|
0.00003
|
|
NM_153717.3(EVC):c.2731C>T (p.Arg911Ter)
|
rs767400887
|
0.00003
|
|
NM_153717.3(EVC):c.625G>A (p.Val209Ile)
|
rs202026284
|
0.00003
|
|
NM_153717.3(EVC):c.920C>G (p.Ser307Cys)
|
rs372548610
|
0.00003
|
|
NM_174878.3(CLRN1):c.142A>G (p.Asn48Asp)
|
rs397517930
|
0.00003
|
|
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met)
|
rs28939720
|
0.00003
|
|
NM_201253.3(CRB1):c.2291G>A (p.Arg764His)
|
rs375040930
|
0.00003
|
|
NM_201253.3(CRB1):c.2305C>T (p.Arg769Cys)
|
rs746307301
|
0.00003
|
|
NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser)
|
rs767648174
|
0.00003
|
|
NM_201253.3(CRB1):c.263C>T (p.Thr88Ile)
|
rs201893755
|
0.00003
|
|
NM_201253.3(CRB1):c.2813A>C (p.Gln938Pro)
|
rs751018219
|
0.00003
|
|
NM_201253.3(CRB1):c.2874C>T (p.Ser958=)
|
rs372778560
|
0.00003
|
|
NM_201253.3(CRB1):c.3307G>A (p.Gly1103Arg)
|
rs62636275
|
0.00003
|
|
NM_201253.3(CRB1):c.3625G>A (p.Val1209Met)
|
rs201349525
|
0.00003
|
|
NM_201253.3(CRB1):c.3683C>A (p.Thr1228Asn)
|
rs147924782
|
0.00003
|
|
NM_201253.3(CRB1):c.3856C>T (p.Arg1286Trp)
|
rs754054234
|
0.00003
|
|
NM_206933.4(USH2A):c.1000C>T (p.Arg334Trp)
|
rs397517963
|
0.00003
|
|
NM_206933.4(USH2A):c.10189A>G (p.Lys3397Glu)
|
rs777959748
|
0.00003
|
|
NM_206933.4(USH2A):c.10208G>A (p.Cys3403Tyr)
|
rs202009522
|
0.00003
|
|
NM_206933.4(USH2A):c.10358C>G (p.Thr3453Arg)
|
rs375485721
|
0.00003
|
|
NM_206933.4(USH2A):c.10387+5C>G
|
rs746536041
|
0.00003
|
|
NM_206933.4(USH2A):c.11241C>A (p.Tyr3747Ter)
|
rs777465132
|
0.00003
|
|
NM_206933.4(USH2A):c.11414T>C (p.Val3805Ala)
|
rs760024584
|
0.00003
|
|
NM_206933.4(USH2A):c.11580C>T (p.Val3860=)
|
rs762253687
|
0.00003
|
|
NM_206933.4(USH2A):c.12429G>A (p.Ser4143=)
|
rs766310214
|
0.00003
|
|
NM_206933.4(USH2A):c.12701C>T (p.Thr4234Met)
|
rs564240175
|
0.00003
|
|
NM_206933.4(USH2A):c.12918C>T (p.Leu4306=)
|
rs192709780
|
0.00003
|
|
NM_206933.4(USH2A):c.13732A>G (p.Lys4578Glu)
|
rs765354805
|
0.00003
|
|
NM_206933.4(USH2A):c.13832C>T (p.Ala4611Val)
|
rs376077079
|
0.00003
|
|
NM_206933.4(USH2A):c.14350G>A (p.Glu4784Lys)
|
rs746837034
|
0.00003
|
|
NM_206933.4(USH2A):c.15297+1G>C
|
rs767630412
|
0.00003
|
|
NM_206933.4(USH2A):c.15499A>G (p.Met5167Val)
|
rs755573653
|
0.00003
|
|
NM_206933.4(USH2A):c.1585A>C (p.Thr529Pro)
|
rs201332729
|
0.00003
|
|
NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg)
|
rs111033273
|
0.00003
|
|
NM_206933.4(USH2A):c.1652G>A (p.Arg551His)
|
rs746477843
|
0.00003
|
|
NM_206933.4(USH2A):c.3532C>G (p.Pro1178Ala)
|
rs372081834
|
0.00003
|
|
NM_206933.4(USH2A):c.3575G>A (p.Gly1192Asp)
|
rs370882987
|
0.00003
|
|
NM_206933.4(USH2A):c.3584G>T (p.Cys1195Phe)
|
rs727504652
|
0.00003
|
|
NM_206933.4(USH2A):c.3800C>T (p.Ala1267Val)
|
rs768141777
|
0.00003
|
|
NM_206933.4(USH2A):c.4016T>G (p.Val1339Gly)
|
rs781668118
|
0.00003
|
|
NM_206933.4(USH2A):c.4096A>T (p.Ile1366Phe)
|
rs779530910
|
0.00003
|
|
NM_206933.4(USH2A):c.4169C>G (p.Thr1390Arg)
|
rs370430107
|
0.00003
|
|
NM_206933.4(USH2A):c.4957C>T (p.Arg1653Ter)
|
rs754768875
|
0.00003
|
|
NM_206933.4(USH2A):c.5167G>C (p.Gly1723Arg)
|
rs1342455785
|
0.00003
|
|
NM_206933.4(USH2A):c.5842C>T (p.Arg1948Cys)
|
rs145647517
|
0.00003
|
|
NM_206933.4(USH2A):c.5941A>G (p.Arg1981Gly)
|
rs775877218
|
0.00003
|
|
NM_206933.4(USH2A):c.7027C>T (p.Arg2343Trp)
|
rs149606872
|
0.00003
|
|
NM_206933.4(USH2A):c.7595-3C>G
|
rs201657446
|
0.00003
|
|
NM_206933.4(USH2A):c.7698T>C (p.Tyr2566=)
|
rs533751971
|
0.00003
|
|
NM_206933.4(USH2A):c.7965G>A (p.Glu2655=)
|
rs571110005
|
0.00003
|
|
NM_206933.4(USH2A):c.8176G>A (p.Gly2726Arg)
|
rs1048653046
|
0.00003
|
|
NM_206933.4(USH2A):c.821G>A (p.Arg274Gln)
|
rs727504721
|
0.00003
|
|
NM_206933.4(USH2A):c.8559-2A>G
|
rs397518039
|
0.00003
|
|
NM_206933.4(USH2A):c.8740C>T (p.Arg2914Ter)
|
rs766590491
|
0.00003
|
|
NM_206933.4(USH2A):c.9220C>T (p.Leu3074=)
|
rs1460250943
|
0.00003
|
|
NM_206933.4(USH2A):c.9291A>C (p.Lys3097Asn)
|
rs143872133
|
0.00003
|
|
NM_206933.4(USH2A):c.949C>A (p.Arg317=)
|
rs111033272
|
0.00003
|
|
NM_206933.4(USH2A):c.9571-2A>G
|
rs751111524
|
0.00003
|
|
NM_206933.4(USH2A):c.9583G>A (p.Gly3195Arg)
|
rs149027999
|
0.00003
|
|
NM_206933.4(USH2A):c.9842G>T (p.Cys3281Phe)
|
rs727504654
|
0.00003
|
|
NR_003051.3(RMRP):n.-21A>C
|
rs563106486
|
0.00003
|
|
NR_003051.3(RMRP):n.-26A>G
|
rs1479868789
|
0.00003
|
|
NR_003051.4(RMRP):n.140C>T
|
rs746248517
|
0.00003
|
|
NR_003051.4(RMRP):n.146C>T
|
rs759632477
|
0.00003
|
|
NR_003051.4(RMRP):n.187C>T
|
rs1051076135
|
0.00003
|
|
NR_003051.4(RMRP):n.194C>T
|
rs1045976155
|
0.00003
|
|
NR_003051.4(RMRP):n.204C>T
|
rs964504772
|
0.00003
|
|
NR_003051.4(RMRP):n.206C>T
|
rs925085494
|
0.00003
|
|
NR_003051.4(RMRP):n.214G>A
|
rs145720742
|
0.00003
|
|
NR_003051.4(RMRP):n.233G>A
|
rs774897161
|
0.00003
|
|
NR_003051.4(RMRP):n.263C>G
|
rs533294975
|
0.00003
|
|
NM_000019.4(ACAT1):c.1124A>G (p.Asn375Ser)
|
rs373771053
|
0.00002
|
|
NM_000019.4(ACAT1):c.622C>T (p.Arg208Ter)
|
rs532190594
|
0.00002
|
|
NM_000019.4(ACAT1):c.990A>G (p.Val330=)
|
rs764361167
|
0.00002
|
|
NM_000023.4(SGCA):c.1132G>A (p.Ala378Thr)
|
rs375692868
|
0.00002
|
|
NM_000023.4(SGCA):c.242G>A (p.Arg81His)
|
rs747984529
|
0.00002
|
|
NM_000023.4(SGCA):c.312+5C>T
|
rs377006294
|
0.00002
|
|
NM_000023.4(SGCA):c.58G>A (p.Asp20Asn)
|
rs759284746
|
0.00002
|
|
NM_000023.4(SGCA):c.724G>A (p.Val242Ile)
|
rs200166783
|
0.00002
|
|
NM_000057.4(BLM):c.1148T>C (p.Ile383Thr)
|
rs556577644
|
0.00002
|
|
NM_000057.4(BLM):c.1235C>T (p.Thr412Met)
|
rs775209685
|
0.00002
|
|
NM_000057.4(BLM):c.124T>C (p.Ser42Pro)
|
rs1291378382
|
0.00002
|
|
NM_000057.4(BLM):c.1308T>C (p.Asp436=)
|
rs140178590
|
0.00002
|
|
NM_000057.4(BLM):c.1864T>C (p.Ser622Pro)
|
rs1033751385
|
0.00002
|
|
NM_000057.4(BLM):c.1877A>T (p.Tyr626Phe)
|
rs374569385
|
0.00002
|
|
NM_000057.4(BLM):c.1964T>C (p.Met655Thr)
|
rs748567176
|
0.00002
|
|
NM_000057.4(BLM):c.2078G>A (p.Gly693Asp)
|
rs771864442
|
0.00002
|
|
NM_000057.4(BLM):c.2098C>T (p.Gln700Ter)
|
rs367543028
|
0.00002
|
|
NM_000057.4(BLM):c.2171T>C (p.Val724Ala)
|
rs750687788
|
0.00002
|
|
NM_000057.4(BLM):c.2350T>A (p.Tyr784Asn)
|
rs779746222
|
0.00002
|
|
NM_000057.4(BLM):c.2434A>C (p.Lys812Gln)
|
rs763827222
|
0.00002
|
|
NM_000057.4(BLM):c.2795A>G (p.Gln932Arg)
|
rs1427273201
|
0.00002
|
|
NM_000057.4(BLM):c.2871C>T (p.Asp957=)
|
rs878853554
|
0.00002
|
|
NM_000057.4(BLM):c.3028del (p.Asp1010fs)
|
rs780379121
|
0.00002
|
|
NM_000057.4(BLM):c.3237C>T (p.Asp1079=)
|
rs148237075
|
0.00002
|
|
NM_000057.4(BLM):c.3299T>G (p.Ile1100Arg)
|
rs755282763
|
0.00002
|
|
NM_000057.4(BLM):c.3305A>G (p.His1102Arg)
|
rs778994524
|
0.00002
|
|
NM_000057.4(BLM):c.3311G>A (p.Gly1104Asp)
|
rs150784889
|
0.00002
|
|
NM_000057.4(BLM):c.3415C>T (p.Arg1139Ter)
|
rs587783037
|
0.00002
|
|
NM_000057.4(BLM):c.3751G>C (p.Glu1251Gln)
|
rs587779888
|
0.00002
|
|
NM_000057.4(BLM):c.3770C>T (p.Pro1257Leu)
|
rs372134818
|
0.00002
|
|
NM_000057.4(BLM):c.3926G>C (p.Arg1309Thr)
|
rs1280067298
|
0.00002
|
|
NM_000057.4(BLM):c.3949G>A (p.Glu1317Lys)
|
rs730880251
|
0.00002
|
|
NM_000057.4(BLM):c.397G>A (p.Asp133Asn)
|
rs762621627
|
0.00002
|
|
NM_000057.4(BLM):c.4016T>C (p.Met1339Thr)
|
rs761320085
|
0.00002
|
|
NM_000057.4(BLM):c.4128C>T (p.Ile1376=)
|
rs1314592673
|
0.00002
|
|
NM_000057.4(BLM):c.467A>G (p.Asp156Gly)
|
rs772175681
|
0.00002
|
|
NM_000057.4(BLM):c.493A>T (p.Thr165Ser)
|
rs769575660
|
0.00002
|
|
NM_000057.4(BLM):c.820A>T (p.Asn274Tyr)
|
rs750551907
|
0.00002
|
|
NM_000057.4(BLM):c.914C>G (p.Pro305Arg)
|
rs773421970
|
0.00002
|
|
NM_000057.4(BLM):c.918A>G (p.Glu306=)
|
rs760806762
|
0.00002
|
|
NM_000070.3(CAPN3):c.1006T>G (p.Tyr336Asp)
|
rs745967703
|
0.00002
|
|
NM_000070.3(CAPN3):c.1157G>A (p.Arg386His)
|
rs376273996
|
0.00002
|
|
NM_000070.3(CAPN3):c.1422G>A (p.Ser474=)
|
rs367855757
|
0.00002
|
|
NM_000070.3(CAPN3):c.1514C>T (p.Ala505Val)
|
rs756657325
|
0.00002
|
|
NM_000070.3(CAPN3):c.2058C>G (p.Asp686Glu)
|
rs749614603
|
0.00002
|
|
NM_000070.3(CAPN3):c.2218G>A (p.Gly740Ser)
|
rs398123145
|
0.00002
|
|
NM_000070.3(CAPN3):c.2242C>T (p.Arg748Ter)
|
rs768090444
|
0.00002
|
|
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln)
|
rs587780290
|
0.00002
|
|
NM_000070.3(CAPN3):c.2314_2316dup (p.Asp772dup)
|
rs753836989
|
0.00002
|
|
NM_000070.3(CAPN3):c.2358C>T (p.Phe786=)
|
rs576710955
|
0.00002
|
|
NM_000070.3(CAPN3):c.944G>A (p.Arg315Gln)
|
rs201155077
|
0.00002
|
|
NM_000231.3(SGCG):c.-126C>A
|
rs1411409870
|
0.00002
|
|
NM_000231.3(SGCG):c.407A>G (p.Gln136Arg)
|
rs569816696
|
0.00002
|
|
NM_000231.3(SGCG):c.479T>C (p.Val160Ala)
|
rs527562042
|
0.00002
|
|
NM_000231.3(SGCG):c.535G>A (p.Val179Met)
|
rs139072866
|
0.00002
|
|
NM_000231.3(SGCG):c.623G>T (p.Gly208Val)
|
rs778119056
|
0.00002
|
|
NM_000232.5(SGCB):c.14C>A (p.Ala5Glu)
|
rs886158091
|
0.00002
|
|
NM_000232.5(SGCB):c.251T>C (p.Leu84Pro)
|
rs138367908
|
0.00002
|
|
NM_000232.5(SGCB):c.271C>T (p.Arg91Cys)
|
rs555514820
|
0.00002
|
|
NM_000232.5(SGCB):c.419A>G (p.Asn140Ser)
|
rs775409967
|
0.00002
|
|
NM_000232.5(SGCB):c.498C>T (p.Ile166=)
|
rs748602445
|
0.00002
|
|
NM_000232.5(SGCB):c.835A>G (p.Ser279Gly)
|
rs565410997
|
0.00002
|
|
NM_000243.3(MEFV):c.1735C>T (p.Arg579Cys)
|
rs762605919
|
0.00002
|
|
NM_000243.3(MEFV):c.1783G>A (p.Ala595Thr)
|
rs369069000
|
0.00002
|
|
NM_000243.3(MEFV):c.1792G>A (p.Val598Ile)
|
rs1028273722
|
0.00002
|
|
NM_000243.3(MEFV):c.1898C>T (p.Pro633Leu)
|
rs976279218
|
0.00002
|
|
NM_000243.3(MEFV):c.1911C>T (p.Asp637=)
|
rs746646325
|
0.00002
|
|
NM_000243.3(MEFV):c.2122C>T (p.Arg708Cys)
|
rs104895202
|
0.00002
|
|
NM_000243.3(MEFV):c.2146A>G (p.Lys716Glu)
|
rs746092199
|
0.00002
|
|
NM_000243.3(MEFV):c.224G>A (p.Arg75Gln)
|
rs376891162
|
0.00002
|
|
NM_000243.3(MEFV):c.239G>A (p.Arg80His)
|
rs201075710
|
0.00002
|
|
NM_000243.3(MEFV):c.431G>A (p.Cys144Tyr)
|
rs773320625
|
0.00002
|
|
NM_000243.3(MEFV):c.56A>G (p.Tyr19Cys)
|
rs769605806
|
0.00002
|
|
NM_000243.3(MEFV):c.955G>A (p.Glu319Lys)
|
rs104895110
|
0.00002
|
|
NM_000260.4(MYO7A):c.1343+7C>T
|
rs782595035
|
0.00002
|
|
NM_000260.4(MYO7A):c.1816C>T (p.Arg606Cys)
|
rs567139897
|
0.00002
|
|
NM_000260.4(MYO7A):c.2023C>T (p.Arg675Cys)
|
rs782459520
|
0.00002
|
|
NM_000260.4(MYO7A):c.2366T>C (p.Leu789Pro)
|
rs751034678
|
0.00002
|
|
NM_000260.4(MYO7A):c.2371C>T (p.Arg791Cys)
|
rs782165016
|
0.00002
|
|
NM_000260.4(MYO7A):c.2553C>G (p.Ile851Met)
|
rs986413500
|
0.00002
|
|
NM_000260.4(MYO7A):c.2618G>A (p.Arg873Gln)
|
rs1052032
|
0.00002
|
|
NM_000260.4(MYO7A):c.3456G>A (p.Glu1152=)
|
rs782816445
|
0.00002
|
|
NM_000260.4(MYO7A):c.3615C>T (p.Ser1205=)
|
rs782742557
|
0.00002
|
|
NM_000260.4(MYO7A):c.3784G>A (p.Val1262Met)
|
rs370036829
|
0.00002
|
|
NM_000260.4(MYO7A):c.3836C>T (p.Thr1279Met)
|
rs766245260
|
0.00002
|
|
NM_000260.4(MYO7A):c.3956T>C (p.Val1319Ala)
|
rs773962194
|
0.00002
|
|
NM_000260.4(MYO7A):c.3G>A (p.Met1Ile)
|
rs782787126
|
0.00002
|
|
NM_000260.4(MYO7A):c.4013G>A (p.Arg1338His)
|
rs778477059
|
0.00002
|
|
NM_000260.4(MYO7A):c.4308C>T (p.Ile1436=)
|
rs189972611
|
0.00002
|
|
NM_000260.4(MYO7A):c.4362C>A (p.Val1454=)
|
rs374492441
|
0.00002
|
|
NM_000260.4(MYO7A):c.4577G>A (p.Arg1526His)
|
rs397516311
|
0.00002
|
|
NM_000260.4(MYO7A):c.4851C>T (p.Pro1617=)
|
rs372535399
|
0.00002
|
|
NM_000260.4(MYO7A):c.4852G>A (p.Ala1618Thr)
|
rs772542296
|
0.00002
|
|
NM_000260.4(MYO7A):c.5086C>T (p.Arg1696Trp)
|
rs781335672
|
0.00002
|
|
NM_000260.4(MYO7A):c.5116G>A (p.Glu1706Lys)
|
rs751860887
|
0.00002
|
|
NM_000260.4(MYO7A):c.5195G>A (p.Arg1732His)
|
rs760544219
|
0.00002
|
|
NM_000260.4(MYO7A):c.5346C>T (p.Gly1782=)
|
rs373822765
|
0.00002
|
|
NM_000260.4(MYO7A):c.5369G>A (p.Arg1790His)
|
rs372016012
|
0.00002
|
|
NM_000260.4(MYO7A):c.5392C>T (p.Gln1798Ter)
|
rs397516317
|
0.00002
|
|
NM_000260.4(MYO7A):c.5536C>G (p.Pro1846Ala)
|
rs763456971
|
0.00002
|
|
NM_000260.4(MYO7A):c.5647C>T (p.Arg1883Trp)
|
rs866352637
|
0.00002
|
|
NM_000260.4(MYO7A):c.5824G>T (p.Gly1942Ter)
|
rs111033192
|
0.00002
|
|
NM_000260.4(MYO7A):c.5857-3C>A
|
rs727505114
|
0.00002
|
|
NM_000260.4(MYO7A):c.5879A>T (p.Asp1960Val)
|
rs1387553850
|
0.00002
|
|
NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter)
|
rs376764423
|
0.00002
|
|
NM_000260.4(MYO7A):c.634C>T (p.Arg212Cys)
|
rs121965080
|
0.00002
|
|
NM_000260.4(MYO7A):c.6626G>A (p.Arg2209Gln)
|
rs776881443
|
0.00002
|
|
NM_000271.5(NPC1):c.1001G>C (p.Cys334Ser)
|
rs199693280
|
0.00002
|
|
NM_000271.5(NPC1):c.1114C>T (p.Arg372Trp)
|
rs1346436537
|
0.00002
|
|
NM_000271.5(NPC1):c.1421C>T (p.Pro474Leu)
|
rs372445155
|
0.00002
|
|
NM_000271.5(NPC1):c.1819C>A (p.Arg607=)
|
rs377130051
|
0.00002
|
|
NM_000271.5(NPC1):c.2347T>C (p.Leu783=)
|
rs200384578
|
0.00002
|
|
NM_000271.5(NPC1):c.2951C>T (p.Pro984Leu)
|
rs755143457
|
0.00002
|
|
NM_000271.5(NPC1):c.3451G>A (p.Ala1151Thr)
|
rs765729815
|
0.00002
|
|
NM_000271.5(NPC1):c.3557G>A (p.Arg1186His)
|
rs200444084
|
0.00002
|
|
NM_000271.5(NPC1):c.3634G>T (p.Val1212Leu)
|
rs753419933
|
0.00002
|
|
NM_000277.3(PAH):c.1066-3C>T
|
rs62507344
|
0.00002
|
|
NM_000277.3(PAH):c.508C>G (p.His170Asp)
|
rs199475655
|
0.00002
|
|
NM_000277.3(PAH):c.806del (p.Ile269fs)
|
rs62508687
|
0.00002
|
|
NM_000277.3(PAH):c.809G>A (p.Arg270Lys)
|
rs62514950
|
0.00002
|
|
NM_000277.3(PAH):c.870T>C (p.His290=)
|
rs751203209
|
0.00002
|
|
NM_000287.4(PEX6):c.106C>T (p.Leu36=)
|
rs758416830
|
0.00002
|
|
NM_000287.4(PEX6):c.122G>A (p.Arg41Lys)
|
rs372033738
|
0.00002
|
|
NM_000287.4(PEX6):c.1406G>A (p.Arg469Gln)
|
rs773105735
|
0.00002
|
|
NM_000287.4(PEX6):c.1556G>A (p.Arg519His)
|
rs368356719
|
0.00002
|
|
NM_000287.4(PEX6):c.1810A>G (p.Ile604Val)
|
rs370855809
|
0.00002
|
|
NM_000287.4(PEX6):c.1992G>C (p.Glu664Asp)
|
rs267608230
|
0.00002
|
|
NM_000287.4(PEX6):c.2254C>G (p.Leu752Val)
|
rs374975985
|
0.00002
|
|
NM_000287.4(PEX6):c.2440C>T (p.Arg814Ter)
|
rs267608241
|
0.00002
|
|
NM_000287.4(PEX6):c.2579G>A (p.Arg860Gln)
|
rs61753231
|
0.00002
|
|
NM_000287.4(PEX6):c.2643C>T (p.Arg881=)
|
rs150853105
|
0.00002
|
|
NM_000287.4(PEX6):c.635T>A (p.Leu212His)
|
rs779822002
|
0.00002
|
|
NM_000287.4(PEX6):c.743G>T (p.Arg248Leu)
|
rs368481812
|
0.00002
|
|
NM_000287.4(PEX6):c.832G>A (p.Ala278Thr)
|
rs370456987
|
0.00002
|
|
NM_000317.3(PTS):c.186+9A>G
|
rs202139885
|
0.00002
|
|
NM_000317.3(PTS):c.84-3C>G
|
rs1230781262
|
0.00002
|
|
NM_000318.3(PEX2):c.795T>C (p.Tyr265=)
|
rs764785488
|
0.00002
|
|
NM_000318.3(PEX2):c.892G>A (p.Glu298Lys)
|
rs544763390
|
0.00002
|
|
NM_000329.3(RPE65):c.1087C>A (p.Pro363Thr)
|
rs121917744
|
0.00002
|
|
NM_000329.3(RPE65):c.130C>T (p.Arg44Ter)
|
rs368088025
|
0.00002
|
|
NM_000329.3(RPE65):c.1339-4A>G
|
rs746665921
|
0.00002
|
|
NM_000329.3(RPE65):c.1431T>C (p.Asp477=)
|
rs570518981
|
0.00002
|
|
NM_000329.3(RPE65):c.1544G>A (p.Arg515Gln)
|
rs559975684
|
0.00002
|
|
NM_000329.3(RPE65):c.304G>T (p.Glu102Ter)
|
rs62642584
|
0.00002
|
|
NM_000329.3(RPE65):c.715T>G (p.Tyr239Asp)
|
rs61752896
|
0.00002
|
|
NM_000329.3(RPE65):c.74C>T (p.Pro25Leu)
|
rs199683808
|
0.00002
|
|
NM_000360.4(TH):c.1229G>A (p.Arg410Gln)
|
rs367874223
|
0.00002
|
|
NM_000360.4(TH):c.1348C>T (p.Arg450Cys)
|
rs375084700
|
0.00002
|
|
NM_000360.4(TH):c.1377C>T (p.Phe459=)
|
rs575305786
|
0.00002
|
|
NM_000360.4(TH):c.1422C>T (p.Ala474=)
|
rs375735482
|
0.00002
|
|
NM_000360.4(TH):c.288G>C (p.Leu96=)
|
rs151082354
|
0.00002
|
|
NM_000360.4(TH):c.364C>T (p.Arg122Ter)
|
rs771610752
|
0.00002
|
|
NM_000360.4(TH):c.644+1G>A
|
rs1266265578
|
0.00002
|
|
NM_000370.3(TTPA):c.2T>C (p.Met1Thr)
|
rs786204758
|
0.00002
|
|
NM_000382.3(ALDH3A2):c.682C>T (p.Arg228Cys)
|
rs72547566
|
0.00002
|
|
NM_000382.3(ALDH3A2):c.733G>A (p.Asp245Asn)
|
rs72547568
|
0.00002
|
|
NM_000441.2(SLC26A4):c.1047G>A (p.Met349Ile)
|
rs180671153
|
0.00002
|
|
NM_000441.2(SLC26A4):c.1149+3A>G
|
rs111033314
|
0.00002
|
|
NM_000441.2(SLC26A4):c.1225C>T (p.Arg409Cys)
|
rs147952620
|
0.00002
|
|
NM_000441.2(SLC26A4):c.1343C>T (p.Ser448Leu)
|
rs747076316
|
0.00002
|
|
NM_000441.2(SLC26A4):c.1588T>C (p.Tyr530His)
|
rs111033254
|
0.00002
|
|
NM_000441.2(SLC26A4):c.1678G>A (p.Asp560Asn)
|
rs759360026
|
0.00002
|
|
NM_000441.2(SLC26A4):c.1920G>A (p.Trp640Ter)
|
rs368119540
|
0.00002
|
|
NM_000441.2(SLC26A4):c.1983C>A (p.Asp661Glu)
|
rs199588131
|
0.00002
|
|
NM_000441.2(SLC26A4):c.55del (p.Ser19fs)
|
rs1057516634
|
0.00002
|
|
NM_000441.2(SLC26A4):c.572C>T (p.Ala191Val)
|
rs372875358
|
0.00002
|
|
NM_000466.3(PEX1):c.1239+1G>T
|
rs756876301
|
0.00002
|
|
NM_000466.3(PEX1):c.1240A>G (p.Ile414Val)
|
rs759491353
|
0.00002
|
|
NM_000466.3(PEX1):c.130-1G>T
|
rs1028247729
|
0.00002
|
|
NM_000466.3(PEX1):c.134A>G (p.Gln45Arg)
|
rs758309091
|
0.00002
|
|
NM_000466.3(PEX1):c.1952_1960dup (p.Trp653_Met654insThrValTrp)
|
rs398123408
|
0.00002
|
|
NM_000466.3(PEX1):c.2368C>T (p.Arg790Ter)
|
rs61750417
|
0.00002
|
|
NM_000466.3(PEX1):c.2708T>A (p.Ile903Lys)
|
rs1305700033
|
0.00002
|
|
NM_000466.3(PEX1):c.2730del (p.Leu910fs)
|
rs61750423
|
0.00002
|
|
NM_000466.3(PEX1):c.2T>C (p.Met1Thr)
|
rs766020928
|
0.00002
|
|
NM_000466.3(PEX1):c.3381G>A (p.Arg1127=)
|
rs148972713
|
0.00002
|
|
NM_000466.3(PEX1):c.3428C>G (p.Ser1143Cys)
|
rs1198978658
|
0.00002
|
|
NM_000466.3(PEX1):c.782_783del (p.Gln261fs)
|
rs749067142
|
0.00002
|
|
NM_000466.3(PEX1):c.897C>T (p.Asn299=)
|
rs559305030
|
0.00002
|
|
NM_000466.3(PEX1):c.966T>C (p.Phe322=)
|
rs375550740
|
0.00002
|
|
NM_000492.4(CFTR):c.127G>A (p.Val43Ile)
|
rs370586917
|
0.00002
|
|
NM_000492.4(CFTR):c.1570T>C (p.Cys524Arg)
|
rs368516826
|
0.00002
|
|
NM_000492.4(CFTR):c.2262G>C (p.Val754=)
|
rs1201012182
|
0.00002
|
|
NM_000492.4(CFTR):c.2322A>T (p.Thr774=)
|
rs778581398
|
0.00002
|
|
NM_000492.4(CFTR):c.3650C>T (p.Ala1217Val)
|
rs749662161
|
0.00002
|
|
NM_000492.4(CFTR):c.4045G>A (p.Gly1349Ser)
|
rs201686600
|
0.00002
|
|
NM_000492.4(CFTR):c.579+3A>G
|
rs397508761
|
0.00002
|
|
NM_000492.4(CFTR):c.62G>T (p.Arg21Ile)
|
rs777520137
|
0.00002
|
|
NM_000492.4(CFTR):c.869+8G>T
|
rs773933167
|
0.00002
|
|
NM_000525.4(KCNJ11):c.1040G>A (p.Arg347His)
|
rs771797701
|
0.00002
|
|
NM_000525.4(KCNJ11):c.285C>T (p.Phe95=)
|
rs774849547
|
0.00002
|
|
NM_000525.4(KCNJ11):c.804C>T (p.Tyr268=)
|
rs778225010
|
0.00002
|
|
NM_000543.5(SMPD1):c.1477C>T (p.Leu493Phe)
|
rs1345053174
|
0.00002
|
|
NM_000543.5(SMPD1):c.234C>T (p.Pro78=)
|
rs575601110
|
0.00002
|
|
NM_000784.4(CYP27A1):c.1072C>T (p.Gln358Ter)
|
rs533885672
|
0.00002
|
|
NM_000784.4(CYP27A1):c.1494G>C (p.Lys498Asn)
|
rs377290147
|
0.00002
|
|
NM_000784.4(CYP27A1):c.315C>T (p.His105=)
|
rs753981913
|
0.00002
|
|
NM_000784.4(CYP27A1):c.36G>T (p.Ala12=)
|
rs764764261
|
0.00002
|
|
NM_000784.4(CYP27A1):c.384C>T (p.Asn128=)
|
rs765555645
|
0.00002
|
|
NM_000784.4(CYP27A1):c.518T>C (p.Leu173Pro)
|
rs1378044084
|
0.00002
|
|
NM_000784.4(CYP27A1):c.850A>T (p.Lys284Ter)
|
rs72551319
|
0.00002
|
|
NM_000784.4(CYP27A1):c.919G>T (p.Val307Leu)
|
rs779794737
|
0.00002
|
|
NM_001017420.3(ESCO2):c.423G>C (p.Gln141His)
|
rs147519828
|
0.00002
|
|
NM_001039958.2(MESP2):c.170C>G (p.Pro57Arg)
|
rs1257896833
|
0.00002
|
|
NM_001122769.3(LCA5):c.706G>A (p.Glu236Lys)
|
rs377719240
|
0.00002
|
|
NM_001127671.2(LIFR):c.2887G>A (p.Ala963Thr)
|
rs770022153
|
0.00002
|
|
NM_001127671.2(LIFR):c.552C>T (p.Leu184=)
|
rs370454146
|
0.00002
|
|
NM_001130987.2(DYSF):c.1255C>T (p.Arg419Trp)
|
rs527435707
|
0.00002
|
|
NM_001130987.2(DYSF):c.1266C>G (p.Asp422Glu)
|
rs1268717670
|
0.00002
|
|
NM_001130987.2(DYSF):c.1691A>C (p.Lys564Thr)
|
rs561875696
|
0.00002
|
|
NM_001130987.2(DYSF):c.1718G>A (p.Arg573Gln)
|
rs755829878
|
0.00002
|
|
NM_001130987.2(DYSF):c.1859C>T (p.Thr620Ile)
|
rs767805308
|
0.00002
|
|
NM_001130987.2(DYSF):c.1917G>A (p.Gly639=)
|
rs769518034
|
0.00002
|
|
NM_001130987.2(DYSF):c.2239G>A (p.Glu747Lys)
|
rs369209261
|
0.00002
|
|
NM_001130987.2(DYSF):c.2285G>A (p.Arg762His)
|
rs759015457
|
0.00002
|
|
NM_001130987.2(DYSF):c.2433C>T (p.Ile811=)
|
rs773468156
|
0.00002
|
|
NM_001130987.2(DYSF):c.249G>C (p.Gly83=)
|
rs550993602
|
0.00002
|
|
NM_001130987.2(DYSF):c.2786T>A (p.Ile929Asn)
|
rs766900434
|
0.00002
|
|
NM_001130987.2(DYSF):c.2810G>A (p.Arg937His)
|
rs765601966
|
0.00002
|
|
NM_001130987.2(DYSF):c.2821G>A (p.Gly941Ser)
|
rs747089235
|
0.00002
|
|
NM_001130987.2(DYSF):c.289A>C (p.Ser97Arg)
|
rs762400168
|
0.00002
|
|
NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp)
|
rs202218890
|
0.00002
|
|
NM_001130987.2(DYSF):c.3110C>T (p.Pro1037Leu)
|
rs770593405
|
0.00002
|
|
NM_001130987.2(DYSF):c.3218C>T (p.Ala1073Val)
|
rs766204227
|
0.00002
|
|
NM_001130987.2(DYSF):c.3344G>A (p.Arg1115His)
|
rs749610930
|
0.00002
|
|
NM_001130987.2(DYSF):c.3760G>A (p.Ala1254Thr)
|
rs556134001
|
0.00002
|
|
NM_001130987.2(DYSF):c.3851C>T (p.Pro1284Leu)
|
rs761916273
|
0.00002
|
|
NM_001130987.2(DYSF):c.3900G>A (p.Pro1300=)
|
rs772742658
|
0.00002
|
|
NM_001130987.2(DYSF):c.4005C>T (p.Asn1335=)
|
rs201966225
|
0.00002
|
|
NM_001130987.2(DYSF):c.4212C>T (p.Phe1404=)
|
rs555086420
|
0.00002
|
|
NM_001130987.2(DYSF):c.4294C>T (p.Arg1432Trp)
|
rs774011358
|
0.00002
|
|
NM_001130987.2(DYSF):c.4323C>T (p.Arg1441=)
|
rs758538165
|
0.00002
|
|
NM_001130987.2(DYSF):c.4591G>A (p.Gly1531Ser)
|
rs747398354
|
0.00002
|
|
NM_001130987.2(DYSF):c.4867A>G (p.Ile1623Val)
|
rs571364996
|
0.00002
|
|
NM_001130987.2(DYSF):c.5238G>A (p.Gln1746=)
|
rs762447573
|
0.00002
|
|
NM_001130987.2(DYSF):c.5267G>A (p.Arg1756Gln)
|
rs957111625
|
0.00002
|
|
NM_001130987.2(DYSF):c.5269A>C (p.Thr1757Pro)
|
rs746919714
|
0.00002
|
|
NM_001130987.2(DYSF):c.5711G>C (p.Gly1904Ala)
|
rs1024524968
|
0.00002
|
|
NM_001130987.2(DYSF):c.6173+4A>C
|
rs749127704
|
0.00002
|
|
NM_001130987.2(DYSF):c.6208C>G (p.Pro2070Ala)
|
rs778611782
|
0.00002
|
|
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys)
|
rs121908955
|
0.00002
|
|
NM_001130987.2(DYSF):c.6322-10C>G
|
rs755660226
|
0.00002
|
|
NM_001130987.2(DYSF):c.785G>A (p.Arg262His)
|
rs764849844
|
0.00002
|
|
NM_001134793.2(HYLS1):c.132A>G (p.Gln44=)
|
rs773632619
|
0.00002
|
|
NM_001134793.2(HYLS1):c.725G>A (p.Arg242Gln)
|
rs374261603
|
0.00002
|
|
NM_001173990.3(TMEM216):c.26C>T (p.Ala9Val)
|
rs1441727203
|
0.00002
|
|
NM_001173990.3(TMEM216):c.336C>T (p.Tyr112=)
|
rs147267631
|
0.00002
|
|
NM_001378454.1(ALMS1):c.10020G>A (p.Arg3340=)
|
rs746166271
|
0.00002
|
|
NM_001378454.1(ALMS1):c.10224T>C (p.Ala3408=)
|
rs1464934308
|
0.00002
|
|
NM_001378454.1(ALMS1):c.10427T>C (p.Val3476Ala)
|
rs750128969
|
0.00002
|
|
NM_001378454.1(ALMS1):c.10550A>G (p.His3517Arg)
|
rs753393562
|
0.00002
|
|
NM_001378454.1(ALMS1):c.10630A>G (p.Arg3544Gly)
|
rs773075850
|
0.00002
|
|
NM_001378454.1(ALMS1):c.10832A>G (p.Gln3611Arg)
|
rs45452795
|
0.00002
|
|
NM_001378454.1(ALMS1):c.11329G>A (p.Glu3777Lys)
|
rs565098671
|
0.00002
|
|
NM_001378454.1(ALMS1):c.1139T>C (p.Ile380Thr)
|
rs199872225
|
0.00002
|
|
NM_001378454.1(ALMS1):c.11499A>G (p.Thr3833=)
|
rs762899971
|
0.00002
|
|
NM_001378454.1(ALMS1):c.11550A>G (p.Val3850=)
|
rs45630561
|
0.00002
|
|
NM_001378454.1(ALMS1):c.11660T>C (p.Ile3887Thr)
|
rs45630562
|
0.00002
|
|
NM_001378454.1(ALMS1):c.12137C>A (p.Pro4046His)
|
rs751862434
|
0.00002
|
|
NM_001378454.1(ALMS1):c.12376C>T (p.Leu4126Phe)
|
rs746923966
|
0.00002
|
|
NM_001378454.1(ALMS1):c.12442C>T (p.Arg4148Ter)
|
rs192496253
|
0.00002
|
|
NM_001378454.1(ALMS1):c.12473A>G (p.Asn4158Ser)
|
rs752828644
|
0.00002
|
|
NM_001378454.1(ALMS1):c.1633A>G (p.Thr545Ala)
|
rs201647675
|
0.00002
|
|
NM_001378454.1(ALMS1):c.1634C>T (p.Thr545Ile)
|
rs772068213
|
0.00002
|
|
NM_001378454.1(ALMS1):c.1651A>T (p.Thr551Ser)
|
rs1271418277
|
0.00002
|
|
NM_001378454.1(ALMS1):c.1884T>C (p.Pro628=)
|
rs373831151
|
0.00002
|
|
NM_001378454.1(ALMS1):c.2502T>C (p.Ala834=)
|
rs761599987
|
0.00002
|
|
NM_001378454.1(ALMS1):c.2739G>C (p.Lys913Asn)
|
rs373378385
|
0.00002
|
|
NM_001378454.1(ALMS1):c.2961G>A (p.Leu987=)
|
rs745503022
|
0.00002
|
|
NM_001378454.1(ALMS1):c.3002G>T (p.Gly1001Val)
|
rs773630367
|
0.00002
|
|
NM_001378454.1(ALMS1):c.315C>T (p.Ser105=)
|
rs754611450
|
0.00002
|
|
NM_001378454.1(ALMS1):c.3493C>T (p.Pro1165Ser)
|
rs767103091
|
0.00002
|
|
NM_001378454.1(ALMS1):c.3604T>C (p.Tyr1202His)
|
rs766931841
|
0.00002
|
|
NM_001378454.1(ALMS1):c.3881G>C (p.Ser1294Thr)
|
rs373835067
|
0.00002
|
|
NM_001378454.1(ALMS1):c.4123A>G (p.Thr1375Ala)
|
rs760866713
|
0.00002
|
|
NM_001378454.1(ALMS1):c.4131C>T (p.Thr1377=)
|
rs759705921
|
0.00002
|
|
NM_001378454.1(ALMS1):c.4153dup (p.Thr1385fs)
|
rs797045228
|
0.00002
|
|
NM_001378454.1(ALMS1):c.5566C>G (p.His1856Asp)
|
rs777664567
|
0.00002
|
|
NM_001378454.1(ALMS1):c.5765T>C (p.Val1922Ala)
|
rs761428155
|
0.00002
|
|
NM_001378454.1(ALMS1):c.679C>T (p.Pro227Ser)
|
rs756201461
|
0.00002
|
|
NM_001378454.1(ALMS1):c.6833A>G (p.Asn2278Ser)
|
rs767464740
|
0.00002
|
|
NM_001378454.1(ALMS1):c.7033C>T (p.Arg2345Trp)
|
rs776611154
|
0.00002
|
|
NM_001378454.1(ALMS1):c.716C>T (p.Ala239Val)
|
rs370830919
|
0.00002
|
|
NM_001378454.1(ALMS1):c.717G>A (p.Ala239=)
|
rs373972884
|
0.00002
|
|
NM_001378454.1(ALMS1):c.7493A>T (p.Glu2498Val)
|
rs1164499906
|
0.00002
|
|
NM_001378454.1(ALMS1):c.8012C>T (p.Pro2671Leu)
|
rs996036496
|
0.00002
|
|
NM_001378454.1(ALMS1):c.8410C>T (p.Arg2804Cys)
|
rs746432199
|
0.00002
|
|
NM_001378454.1(ALMS1):c.874C>T (p.Arg292Cys)
|
rs757657988
|
0.00002
|
|
NM_001378454.1(ALMS1):c.8882C>T (p.Pro2961Leu)
|
rs781477502
|
0.00002
|
|
NM_001378454.1(ALMS1):c.9026A>G (p.Asn3009Ser)
|
rs757198941
|
0.00002
|
|
NM_001378454.1(ALMS1):c.9178G>T (p.Asp3060Tyr)
|
rs547914710
|
0.00002
|
|
NM_001378454.1(ALMS1):c.9281C>T (p.Ser3094Leu)
|
rs368970124
|
0.00002
|
|
NM_001378454.1(ALMS1):c.9708G>A (p.Lys3236=)
|
rs574095166
|
0.00002
|
|
NM_001378454.1(ALMS1):c.9772G>A (p.Gly3258Ser)
|
rs769100528
|
0.00002
|
|
NM_001378454.1(ALMS1):c.9928C>T (p.Pro3310Ser)
|
rs775666186
|
0.00002
|
|
NM_001378454.1(ALMS1):c.9995A>G (p.His3332Arg)
|
rs777406837
|
0.00002
|
|
NM_001384140.1(PCDH15):c.1099G>T (p.Ala367Ser)
|
rs199537944
|
0.00002
|
|
NM_001384140.1(PCDH15):c.1169A>G (p.Asn390Ser)
|
rs397517450
|
0.00002
|
|
NM_001384140.1(PCDH15):c.1306A>G (p.Thr436Ala)
|
rs747795209
|
0.00002
|
|
NM_001384140.1(PCDH15):c.1918-6C>T
|
rs776285978
|
0.00002
|
|
NM_001384140.1(PCDH15):c.1998C>T (p.Thr666=)
|
rs754253198
|
0.00002
|
|
NM_001384140.1(PCDH15):c.2564G>A (p.Arg855Gln)
|
rs763530050
|
0.00002
|
|
NM_001384140.1(PCDH15):c.2713A>G (p.Met905Val)
|
rs747028333
|
0.00002
|
|
NM_001384140.1(PCDH15):c.2731A>G (p.Thr911Ala)
|
rs887302573
|
0.00002
|
|
NM_001384140.1(PCDH15):c.2981T>A (p.Leu994His)
|
rs548728030
|
0.00002
|
|
NM_001384140.1(PCDH15):c.3009+7G>A
|
rs201161336
|
0.00002
|
|
NM_001384140.1(PCDH15):c.3316C>T (p.Arg1106Ter)
|
rs202033121
|
0.00002
|
|
NM_001384140.1(PCDH15):c.3700G>A (p.Gly1234Ser)
|
rs143149062
|
0.00002
|
|
NM_001384140.1(PCDH15):c.3821A>G (p.Tyr1274Cys)
|
rs904260491
|
0.00002
|
|
NM_001384140.1(PCDH15):c.3888T>C (p.Asp1296=)
|
rs765713345
|
0.00002
|
|
NM_001384140.1(PCDH15):c.4049G>A (p.Arg1350His)
|
rs752356781
|
0.00002
|
|
NM_001384140.1(PCDH15):c.4064G>A (p.Arg1355Gln)
|
rs371850442
|
0.00002
|
|
NM_001384140.1(PCDH15):c.602A>G (p.Asn201Ser)
|
rs374283912
|
0.00002
|
|
NM_001384140.1(PCDH15):c.607A>G (p.Thr203Ala)
|
rs200975767
|
0.00002
|
|
NM_001384140.1(PCDH15):c.725A>C (p.Asn242Thr)
|
rs775673790
|
0.00002
|
|
NM_001384474.1(LOXHD1):c.1371T>A (p.Asp457Glu)
|
rs755819004
|
0.00002
|
|
NM_001384474.1(LOXHD1):c.170C>T (p.Ala57Val)
|
rs1131691786
|
0.00002
|
|
NM_001384474.1(LOXHD1):c.2728C>G (p.Pro910Ala)
|
rs1015707963
|
0.00002
|
|
NM_001384474.1(LOXHD1):c.3654C>T (p.Ser1218=)
|
rs774278587
|
0.00002
|
|
NM_001384474.1(LOXHD1):c.3811A>G (p.Met1271Val)
|
rs1377630828
|
0.00002
|
|
NM_001384474.1(LOXHD1):c.4212+1G>A
|
rs889110926
|
0.00002
|
|
NM_001384474.1(LOXHD1):c.4635G>A (p.Val1545=)
|
rs531191015
|
0.00002
|
|
NM_001384474.1(LOXHD1):c.4886A>G (p.Tyr1629Cys)
|
rs201536647
|
0.00002
|
|
NM_001384474.1(LOXHD1):c.6321C>T (p.Thr2107=)
|
rs1238383222
|
0.00002
|
|
NM_001384474.1(LOXHD1):c.6322G>A (p.Glu2108Lys)
|
rs774836161
|
0.00002
|
|
NM_001384474.1(LOXHD1):c.6333C>T (p.Tyr2111=)
|
rs374858340
|
0.00002
|
|
NM_001384474.1(LOXHD1):c.6716T>C (p.Val2239Ala)
|
rs776112233
|
0.00002
|
|
NM_001384474.1(LOXHD1):c.6812C>T (p.Pro2271Leu)
|
rs950165733
|
0.00002
|
|
NM_001384474.1(LOXHD1):c.78C>T (p.Tyr26=)
|
rs1032456776
|
0.00002
|
|
NM_001384474.1(LOXHD1):c.91G>C (p.Asp31His)
|
rs876657862
|
0.00002
|
|
NM_001386140.1(MTTP):c.2045G>A (p.Gly682Glu)
|
rs751715076
|
0.00002
|
|
NM_001386140.1(MTTP):c.2165G>A (p.Gly722Asp)
|
rs1419028802
|
0.00002
|
|
NM_001386140.1(MTTP):c.877G>T (p.Val293Phe)
|
rs146548751
|
0.00002
|
|
NM_002454.3(MTRR):c.166G>A (p.Val56Met)
|
rs761061866
|
0.00002
|
|
NM_002485.5(NBN):c.104T>C (p.Ile35Thr)
|
rs587780773
|
0.00002
|
|
NM_002485.5(NBN):c.133C>G (p.His45Asp)
|
rs773865323
|
0.00002
|
|
NM_002485.5(NBN):c.1484C>T (p.Pro495Leu)
|
rs863224714
|
0.00002
|
|
NM_002485.5(NBN):c.1591A>G (p.Ile531Val)
|
rs587782330
|
0.00002
|
|
NM_002485.5(NBN):c.1667T>A (p.Val556Glu)
|
rs558023830
|
0.00002
|
|
NM_002485.5(NBN):c.1711A>G (p.Lys571Glu)
|
rs587780090
|
0.00002
|
|
NM_002485.5(NBN):c.1845+3A>G
|
rs587780777
|
0.00002
|
|
NM_002485.5(NBN):c.1849G>A (p.Glu617Lys)
|
rs766602873
|
0.00002
|
|
NM_002485.5(NBN):c.1871G>A (p.Arg624His)
|
rs587782297
|
0.00002
|
|
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter)
|
rs587782545
|
0.00002
|
|
NM_002485.5(NBN):c.1925A>G (p.Lys642Arg)
|
rs587781547
|
0.00002
|
|
NM_002485.5(NBN):c.1961T>G (p.Leu654Arg)
|
rs758728938
|
0.00002
|
|
NM_002485.5(NBN):c.2086G>A (p.Ala696Thr)
|
rs749276965
|
0.00002
|
|
NM_002485.5(NBN):c.2141G>A (p.Arg714Gln)
|
rs753270166
|
0.00002
|
|
NM_002485.5(NBN):c.251A>G (p.Gln84Arg)
|
rs762702597
|
0.00002
|
|
NM_002485.5(NBN):c.254A>G (p.Asn85Ser)
|
rs587780095
|
0.00002
|
|
NM_002485.5(NBN):c.301G>A (p.Val101Met)
|
rs786202139
|
0.00002
|
|
NM_002485.5(NBN):c.37+1G>A
|
rs574673404
|
0.00002
|
|
NM_002485.5(NBN):c.775G>A (p.Glu259Lys)
|
rs201559159
|
0.00002
|
|
NM_002485.5(NBN):c.902G>A (p.Gly301Asp)
|
rs749857140
|
0.00002
|
|
NM_002485.5(NBN):c.911C>T (p.Pro304Leu)
|
rs536965870
|
0.00002
|
|
NM_002485.5(NBN):c.929T>C (p.Ile310Thr)
|
rs753812768
|
0.00002
|
|
NM_002485.5(NBN):c.940G>A (p.Val314Met)
|
rs529845940
|
0.00002
|
|
NM_002617.4(PEX10):c.1A>G (p.Met1Val)
|
rs886041314
|
0.00002
|
|
NM_002617.4(PEX10):c.447G>A (p.Thr149=)
|
rs759220912
|
0.00002
|
|
NM_002617.4(PEX10):c.470G>A (p.Arg157Lys)
|
rs772618705
|
0.00002
|
|
NM_002617.4(PEX10):c.600+1G>A
|
rs267608183
|
0.00002
|
|
NM_002617.4(PEX10):c.779C>A (p.Ala260Asp)
|
rs747171383
|
0.00002
|
|
NM_002617.4(PEX10):c.782C>G (p.Ser261Cys)
|
rs1208669638
|
0.00002
|
|
NM_002617.4(PEX10):c.857C>T (p.Thr286Met)
|
rs774205482
|
0.00002
|
|
NM_002617.4(PEX10):c.865G>A (p.Gly289Ser)
|
rs556603981
|
0.00002
|
|
NM_003384.3(VRK1):c.216+1G>C
|
rs774518440
|
0.00002
|
|
NM_003384.3(VRK1):c.26C>T (p.Ala9Val)
|
rs771269721
|
0.00002
|
|
NM_003384.3(VRK1):c.308G>A (p.Arg103His)
|
rs779386449
|
0.00002
|
|
NM_004004.6(GJB2):c.194A>G (p.Tyr65Cys)
|
rs111033203
|
0.00002
|
|
NM_004004.6(GJB2):c.290dup (p.Tyr97Ter)
|
rs786204491
|
0.00002
|
|
NM_004004.6(GJB2):c.510C>T (p.Asn170=)
|
rs763068053
|
0.00002
|
|
NM_004004.6(GJB2):c.677T>G (p.Val226Gly)
|
rs773846324
|
0.00002
|
|
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)
|
rs104894396
|
0.00002
|
|
NM_006019.4(TCIRG1):c.1488G>A (p.Thr496=)
|
rs368168053
|
0.00002
|
|
NM_006019.4(TCIRG1):c.1674-8C>T
|
rs754864356
|
0.00002
|
|
NM_006019.4(TCIRG1):c.1875C>G (p.Leu625=)
|
rs758830999
|
0.00002
|
|
NM_006019.4(TCIRG1):c.59C>T (p.Ala20Val)
|
rs377034463
|
0.00002
|
|
NM_006118.4(HAX1):c.11T>C (p.Phe4Ser)
|
rs780614125
|
0.00002
|
|
NM_006118.4(HAX1):c.168C>A (p.His56Gln)
|
rs756371972
|
0.00002
|
|
NM_006118.4(HAX1):c.256C>T (p.Arg86Ter)
|
rs121908165
|
0.00002
|
|
NM_006118.4(HAX1):c.411G>A (p.Gln137=)
|
rs766622654
|
0.00002
|
|
NM_007259.5(VPS45):c.1033C>T (p.Arg345Trp)
|
rs782225422
|
0.00002
|
|
NM_007259.5(VPS45):c.1133A>G (p.Lys378Arg)
|
rs190896405
|
0.00002
|
|
NM_007259.5(VPS45):c.1157G>A (p.Arg386His)
|
rs781997687
|
0.00002
|
|
NM_007259.5(VPS45):c.1371+5A>G
|
rs369221126
|
0.00002
|
|
NM_007259.5(VPS45):c.1700C>T (p.Ala567Val)
|
rs373074422
|
0.00002
|
|
NM_007259.5(VPS45):c.711C>T (p.His237=)
|
rs782676481
|
0.00002
|
|
NM_014363.6(SACS):c.10622A>G (p.Tyr3541Cys)
|
rs747013127
|
0.00002
|
|
NM_014363.6(SACS):c.11249A>G (p.Asn3750Ser)
|
rs376188585
|
0.00002
|
|
NM_014363.6(SACS):c.11264T>C (p.Ile3755Thr)
|
rs781590547
|
0.00002
|
|
NM_014363.6(SACS):c.11302A>G (p.Thr3768Ala)
|
rs774463808
|
0.00002
|
|
NM_014363.6(SACS):c.11380G>T (p.Val3794Phe)
|
rs753844954
|
0.00002
|
|
NM_014363.6(SACS):c.11901A>G (p.Gln3967=)
|
rs572068106
|
0.00002
|
|
NM_014363.6(SACS):c.12130G>C (p.Gly4044Arg)
|
rs753511073
|
0.00002
|
|
NM_014363.6(SACS):c.1310C>T (p.Thr437Met)
|
rs199657817
|
0.00002
|
|
NM_014363.6(SACS):c.13694C>A (p.Ala4565Asp)
|
rs375722463
|
0.00002
|
|
NM_014363.6(SACS):c.1483T>A (p.Phe495Ile)
|
rs748972179
|
0.00002
|
|
NM_014363.6(SACS):c.2403A>G (p.Pro801=)
|
rs758503842
|
0.00002
|
|
NM_014363.6(SACS):c.2472G>A (p.Ser824=)
|
rs554395185
|
0.00002
|
|
NM_014363.6(SACS):c.2686C>T (p.Leu896Phe)
|
rs760556327
|
0.00002
|
|
NM_014363.6(SACS):c.2733C>T (p.Thr911=)
|
rs199702597
|
0.00002
|
|
NM_014363.6(SACS):c.3550C>T (p.Pro1184Ser)
|
rs200831217
|
0.00002
|
|
NM_014363.6(SACS):c.4814G>C (p.Ser1605Thr)
|
rs770007806
|
0.00002
|
|
NM_014363.6(SACS):c.4878C>T (p.Gly1626=)
|
rs778664565
|
0.00002
|
|
NM_014363.6(SACS):c.494C>T (p.Thr165Ile)
|
rs1419027987
|
0.00002
|
|
NM_014363.6(SACS):c.5222C>T (p.Thr1741Ile)
|
rs201724656
|
0.00002
|
|
NM_014363.6(SACS):c.5356G>A (p.Asp1786Asn)
|
rs763496360
|
0.00002
|
|
NM_014363.6(SACS):c.5630G>A (p.Arg1877Gln)
|
rs772866081
|
0.00002
|
|
NM_014363.6(SACS):c.5906A>G (p.His1969Arg)
|
rs776693219
|
0.00002
|
|
NM_014363.6(SACS):c.6059G>A (p.Gly2020Glu)
|
rs747566710
|
0.00002
|
|
NM_014363.6(SACS):c.6518T>C (p.Ile2173Thr)
|
rs368624188
|
0.00002
|
|
NM_014363.6(SACS):c.6593T>C (p.Ile2198Thr)
|
rs754906806
|
0.00002
|
|
NM_014363.6(SACS):c.7171G>A (p.Val2391Met)
|
rs760087813
|
0.00002
|
|
NM_014363.6(SACS):c.7207G>C (p.Val2403Leu)
|
rs779973547
|
0.00002
|
|
NM_014363.6(SACS):c.7354T>C (p.Leu2452=)
|
rs761258047
|
0.00002
|
|
NM_014363.6(SACS):c.8948A>G (p.Asn2983Ser)
|
rs200106708
|
0.00002
|
|
NM_014363.6(SACS):c.8971C>T (p.Arg2991Cys)
|
rs759112797
|
0.00002
|
|
NM_014363.6(SACS):c.9128A>G (p.Tyr3043Cys)
|
rs761690372
|
0.00002
|
|
NM_015474.4(SAMHD1):c.1445G>A (p.Ser482Asn)
|
rs373079404
|
0.00002
|
|
NM_015474.4(SAMHD1):c.1471G>A (p.Val491Met)
|
rs529220118
|
0.00002
|
|
NM_015474.4(SAMHD1):c.342A>G (p.Thr114=)
|
rs760417947
|
0.00002
|
|
NM_015474.4(SAMHD1):c.602T>A (p.Ile201Asn)
|
rs138603088
|
0.00002
|
|
NM_015702.3(MMADHC):c.419dup (p.Tyr140Ter)
|
rs397509363
|
0.00002
|
|
NM_015702.3(MMADHC):c.743G>A (p.Arg248His)
|
rs756858861
|
0.00002
|
|
NM_022124.6(CDH23):c.10018C>T (p.Leu3340Phe)
|
rs376537401
|
0.00002
|
|
NM_022124.6(CDH23):c.10022G>A (p.Arg3341His)
|
rs765298747
|
0.00002
|
|
NM_022124.6(CDH23):c.1263C>T (p.Tyr421=)
|
rs528720730
|
0.00002
|
|
NM_022124.6(CDH23):c.1317C>T (p.Asp439=)
|
rs748828988
|
0.00002
|
|
NM_022124.6(CDH23):c.1370G>A (p.Arg457Gln)
|
rs755373877
|
0.00002
|
|
NM_022124.6(CDH23):c.1515-12G>A
|
rs369396703
|
0.00002
|
|
NM_022124.6(CDH23):c.1636C>T (p.Arg546Trp)
|
rs1319955478
|
0.00002
|
|
NM_022124.6(CDH23):c.1858+6T>C
|
rs745522676
|
0.00002
|
|
NM_022124.6(CDH23):c.1978G>A (p.Glu660Lys)
|
rs762287437
|
0.00002
|
|
NM_022124.6(CDH23):c.2038G>A (p.Val680Met)
|
rs760334573
|
0.00002
|
|
NM_022124.6(CDH23):c.2112C>T (p.Tyr704=)
|
rs565266663
|
0.00002
|
|
NM_022124.6(CDH23):c.2290-3C>T
|
rs182365129
|
0.00002
|
|
NM_022124.6(CDH23):c.3482G>A (p.Arg1161Gln)
|
rs747849852
|
0.00002
|
|
NM_022124.6(CDH23):c.3523G>A (p.Val1175Met)
|
rs763379895
|
0.00002
|
|
NM_022124.6(CDH23):c.3695A>G (p.Gln1232Arg)
|
rs776158881
|
0.00002
|
|
NM_022124.6(CDH23):c.3730G>A (p.Val1244Met)
|
rs1478583640
|
0.00002
|
|
NM_022124.6(CDH23):c.39G>T (p.Trp13Cys)
|
rs1325941288
|
0.00002
|
|
NM_022124.6(CDH23):c.4046G>A (p.Arg1349His)
|
rs768452198
|
0.00002
|
|
NM_022124.6(CDH23):c.4054G>A (p.Ala1352Thr)
|
rs773262846
|
0.00002
|
|
NM_022124.6(CDH23):c.4146C>T (p.Gly1382=)
|
rs201008425
|
0.00002
|
|
NM_022124.6(CDH23):c.414C>T (p.Ser138=)
|
rs745908110
|
0.00002
|
|
NM_022124.6(CDH23):c.4250G>A (p.Arg1417Gln)
|
rs369353175
|
0.00002
|
|
NM_022124.6(CDH23):c.4589C>T (p.Pro1530Leu)
|
rs554938323
|
0.00002
|
|
NM_022124.6(CDH23):c.4739G>A (p.Arg1580His)
|
rs747067009
|
0.00002
|
|
NM_022124.6(CDH23):c.5066T>C (p.Met1689Thr)
|
rs397517334
|
0.00002
|
|
NM_022124.6(CDH23):c.5117G>A (p.Arg1706His)
|
rs376614796
|
0.00002
|
|
NM_022124.6(CDH23):c.5168G>A (p.Arg1723His)
|
rs189361642
|
0.00002
|
|
NM_022124.6(CDH23):c.5335G>C (p.Val1779Leu)
|
rs376114326
|
0.00002
|
|
NM_022124.6(CDH23):c.5386C>A (p.Pro1796Thr)
|
rs776996577
|
0.00002
|
|
NM_022124.6(CDH23):c.5443G>A (p.Ala1815Thr)
|
rs199581934
|
0.00002
|
|
NM_022124.6(CDH23):c.5611G>A (p.Ala1871Thr)
|
rs766404226
|
0.00002
|
|
NM_022124.6(CDH23):c.5632G>A (p.Ala1878Thr)
|
rs757570269
|
0.00002
|
|
NM_022124.6(CDH23):c.5810T>C (p.Ile1937Thr)
|
rs746883593
|
0.00002
|
|
NM_022124.6(CDH23):c.6004C>G (p.Leu2002Val)
|
rs756459547
|
0.00002
|
|
NM_022124.6(CDH23):c.6086G>A (p.Arg2029Gln)
|
rs542400234
|
0.00002
|
|
NM_022124.6(CDH23):c.6194A>G (p.Asn2065Ser)
|
rs765490119
|
0.00002
|
|
NM_022124.6(CDH23):c.6337C>T (p.Gln2113Ter)
|
rs771210121
|
0.00002
|
|
NM_022124.6(CDH23):c.6517G>A (p.Glu2173Lys)
|
rs770659035
|
0.00002
|
|
NM_022124.6(CDH23):c.7177G>A (p.Val2393Met)
|
rs775436759
|
0.00002
|
|
NM_022124.6(CDH23):c.7462C>T (p.Arg2488Cys)
|
rs909808363
|
0.00002
|
|
NM_022124.6(CDH23):c.752C>T (p.Pro251Leu)
|
rs746961144
|
0.00002
|
|
NM_022124.6(CDH23):c.758C>T (p.Thr253Met)
|
rs765002368
|
0.00002
|
|
NM_022124.6(CDH23):c.7661-8A>G
|
rs754067214
|
0.00002
|
|
NM_022124.6(CDH23):c.7706G>A (p.Arg2569Gln)
|
rs769627991
|
0.00002
|
|
NM_022124.6(CDH23):c.7936G>C (p.Gly2646Arg)
|
rs747025744
|
0.00002
|
|
NM_022124.6(CDH23):c.806G>A (p.Arg269Gln)
|
rs1235821368
|
0.00002
|
|
NM_022124.6(CDH23):c.8146G>A (p.Asp2716Asn)
|
rs748766643
|
0.00002
|
|
NM_022124.6(CDH23):c.8283C>T (p.Asn2761=)
|
rs397517357
|
0.00002
|
|
NM_022124.6(CDH23):c.8384G>A (p.Arg2795Gln)
|
rs776710271
|
0.00002
|
|
NM_022124.6(CDH23):c.8463C>T (p.Leu2821=)
|
rs1235419354
|
0.00002
|
|
NM_022124.6(CDH23):c.8464G>A (p.Asp2822Asn)
|
rs1305925095
|
0.00002
|
|
NM_022124.6(CDH23):c.8572G>A (p.Asp2858Asn)
|
rs757494360
|
0.00002
|
|
NM_022124.6(CDH23):c.9311G>T (p.Gly3104Val)
|
rs376432892
|
0.00002
|
|
NM_022124.6(CDH23):c.9430G>A (p.Ala3144Thr)
|
rs779358121
|
0.00002
|
|
NM_022124.6(CDH23):c.9838G>A (p.Asp3280Asn)
|
rs555161519
|
0.00002
|
|
NM_022124.6(CDH23):c.9858C>T (p.His3286=)
|
rs761835004
|
0.00002
|
|
NM_022124.6(CDH23):c.9970G>A (p.Glu3324Lys)
|
rs763119683
|
0.00002
|
|
NM_024301.5(FKRP):c.1291A>G (p.Thr431Ala)
|
rs1060502112
|
0.00002
|
|
NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp)
|
rs121908110
|
0.00002
|
|
NM_024301.5(FKRP):c.266C>T (p.Pro89Leu)
|
rs770711331
|
0.00002
|
|
NM_024301.5(FKRP):c.554C>T (p.Ala185Val)
|
rs1032563159
|
0.00002
|
|
NM_024301.5(FKRP):c.628C>G (p.Leu210Val)
|
rs778472624
|
0.00002
|
|
NM_024301.5(FKRP):c.725C>T (p.Ala242Val)
|
rs1298321836
|
0.00002
|
|
NM_024301.5(FKRP):c.823C>T (p.Arg275Cys)
|
rs1247934219
|
0.00002
|
|
NM_024301.5(FKRP):c.85C>T (p.His29Tyr)
|
rs886043192
|
0.00002
|
|
NM_024301.5(FKRP):c.893G>C (p.Gly298Ala)
|
rs921829148
|
0.00002
|
|
NM_024301.5(FKRP):c.972G>C (p.Glu324Asp)
|
rs1365712686
|
0.00002
|
|
NM_024649.5(BBS1):c.1139G>A (p.Arg380Gln)
|
rs758139447
|
0.00002
|
|
NM_024649.5(BBS1):c.1585T>G (p.Ser529Ala)
|
rs1316472200
|
0.00002
|
|
NM_024649.5(BBS1):c.1684G>T (p.Asp562Tyr)
|
rs768098877
|
0.00002
|
|
NM_024649.5(BBS1):c.1695+9C>T
|
rs756514477
|
0.00002
|
|
NM_024649.5(BBS1):c.169G>C (p.Gly57Arg)
|
rs1355873337
|
0.00002
|
|
NM_024649.5(BBS1):c.329C>A (p.Pro110His)
|
rs750288768
|
0.00002
|
|
NM_024649.5(BBS1):c.357A>T (p.Arg119Ser)
|
rs190513580
|
0.00002
|
|
NM_024649.5(BBS1):c.518+5G>A
|
rs1428618323
|
0.00002
|
|
NM_024649.5(BBS1):c.670G>A (p.Glu224Lys)
|
rs193922709
|
0.00002
|
|
NM_024649.5(BBS1):c.725T>C (p.Met242Thr)
|
rs771506842
|
0.00002
|
|
NM_024649.5(BBS1):c.877G>A (p.Val293Met)
|
rs769422545
|
0.00002
|
|
NM_024685.4(BBS10):c.1700T>C (p.Ile567Thr)
|
rs373626588
|
0.00002
|
|
NM_024685.4(BBS10):c.1742C>T (p.Pro581Leu)
|
rs762432475
|
0.00002
|
|
NM_024685.4(BBS10):c.687del (p.Val230fs)
|
rs761101213
|
0.00002
|
|
NM_025114.4(CEP290):c.1078C>T (p.Arg360Ter)
|
rs776645403
|
0.00002
|
|
NM_025114.4(CEP290):c.1235C>T (p.Thr412Met)
|
rs189280108
|
0.00002
|
|
NM_025114.4(CEP290):c.1448C>T (p.Thr483Ile)
|
rs373303674
|
0.00002
|
|
NM_025114.4(CEP290):c.1460A>G (p.Asn487Ser)
|
rs1331263277
|
0.00002
|
|
NM_025114.4(CEP290):c.1677G>C (p.Met559Ile)
|
rs1000099371
|
0.00002
|
|
NM_025114.4(CEP290):c.2060A>T (p.Glu687Val)
|
rs932362741
|
0.00002
|
|
NM_025114.4(CEP290):c.2273T>C (p.Val758Ala)
|
rs369868981
|
0.00002
|
|
NM_025114.4(CEP290):c.3124A>G (p.Lys1042Glu)
|
rs1468626083
|
0.00002
|
|
NM_025114.4(CEP290):c.3410G>A (p.Arg1137Gln)
|
rs774900495
|
0.00002
|
|
NM_025114.4(CEP290):c.3428A>G (p.Lys1143Arg)
|
rs772550529
|
0.00002
|
|
NM_025114.4(CEP290):c.367C>T (p.Gln123Ter)
|
rs770126103
|
0.00002
|
|
NM_025114.4(CEP290):c.4156A>G (p.Ile1386Val)
|
rs1427374639
|
0.00002
|
|
NM_025114.4(CEP290):c.4268G>A (p.Arg1423His)
|
rs774025278
|
0.00002
|
|
NM_025114.4(CEP290):c.4292C>T (p.Ala1431Val)
|
rs564214956
|
0.00002
|
|
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter)
|
rs539400286
|
0.00002
|
|
NM_025114.4(CEP290):c.4522C>T (p.Arg1508Ter)
|
rs749439750
|
0.00002
|
|
NM_025114.4(CEP290):c.5285G>A (p.Arg1762His)
|
rs761763799
|
0.00002
|
|
NM_025114.4(CEP290):c.5371G>C (p.Val1791Leu)
|
rs955877363
|
0.00002
|
|
NM_025114.4(CEP290):c.5431A>G (p.Arg1811Gly)
|
rs1460898199
|
0.00002
|
|
NM_025114.4(CEP290):c.5577T>C (p.Ser1859=)
|
rs1481341836
|
0.00002
|
|
NM_025114.4(CEP290):c.563A>T (p.Asp188Val)
|
rs746511786
|
0.00002
|
|
NM_025114.4(CEP290):c.6277del (p.Val2093fs)
|
rs771454167
|
0.00002
|
|
NM_025114.4(CEP290):c.6335G>A (p.Arg2112Gln)
|
rs773459272
|
0.00002
|
|
NM_025114.4(CEP290):c.7169C>G (p.Thr2390Arg)
|
rs776216960
|
0.00002
|
|
NM_025114.4(CEP290):c.835G>A (p.Asp279Asn)
|
rs796540607
|
0.00002
|
|
NM_025216.3(WNT10A):c.376+1G>A
|
rs561503117
|
0.00002
|
|
NM_025216.3(WNT10A):c.382C>T (p.Arg128Ter)
|
rs762739726
|
0.00002
|
|
NM_025216.3(WNT10A):c.660C>T (p.Phe220=)
|
rs765046353
|
0.00002
|
|
NM_025216.3(WNT10A):c.742C>T (p.Arg248Ter)
|
rs886039453
|
0.00002
|
|
NM_025216.3(WNT10A):c.966G>C (p.Pro322=)
|
rs767856988
|
0.00002
|
|
NM_031885.5(BBS2):c.112G>A (p.Gly38Ser)
|
rs768699088
|
0.00002
|
|
NM_031885.5(BBS2):c.1333A>G (p.Ile445Val)
|
rs145757541
|
0.00002
|
|
NM_031885.5(BBS2):c.1780C>T (p.Arg594Ter)
|
rs762047808
|
0.00002
|
|
NM_031885.5(BBS2):c.1879G>A (p.Gly627Arg)
|
rs149473225
|
0.00002
|
|
NM_031885.5(BBS2):c.1894C>T (p.Arg632Cys)
|
rs200021475
|
0.00002
|
|
NM_031885.5(BBS2):c.1934T>C (p.Met645Thr)
|
rs757737589
|
0.00002
|
|
NM_031885.5(BBS2):c.2088T>C (p.Thr696=)
|
rs886052144
|
0.00002
|
|
NM_031885.5(BBS2):c.382T>C (p.Leu128=)
|
rs374060552
|
0.00002
|
|
NM_031885.5(BBS2):c.685T>C (p.Tyr229His)
|
rs778543585
|
0.00002
|
|
NM_031885.5(BBS2):c.814C>T (p.Arg272Ter)
|
rs764164384
|
0.00002
|
|
NM_031885.5(BBS2):c.819T>C (p.Ser273=)
|
rs550992948
|
0.00002
|
|
NM_031885.5(BBS2):c.988G>A (p.Asp330Asn)
|
rs144573829
|
0.00002
|
|
NM_033056.4(PCDH15):c.4783A>C (p.Ile1595Leu)
|
rs397517461
|
0.00002
|
|
NM_033056.4(PCDH15):c.5178C>T (p.Thr1726=)
|
rs760796538
|
0.00002
|
|
NM_033056.4(PCDH15):c.5543G>T (p.Cys1848Phe)
|
rs752231055
|
0.00002
|
|
NM_033056.4(PCDH15):c.5642G>T (p.Gly1881Val)
|
rs760992741
|
0.00002
|
|
NM_033056.4(PCDH15):c.5711A>G (p.Glu1904Gly)
|
rs2076301014
|
0.00002
|
|
NM_138694.4(PKHD1):c.10155A>G (p.Ala3385=)
|
rs773270584
|
0.00002
|
|
NM_138694.4(PKHD1):c.10174C>T (p.Gln3392Ter)
|
rs201082169
|
0.00002
|
|
NM_138694.4(PKHD1):c.10743C>T (p.Leu3581=)
|
rs770308751
|
0.00002
|
|
NM_138694.4(PKHD1):c.11237T>G (p.Leu3746Arg)
|
rs1320401077
|
0.00002
|
|
NM_138694.4(PKHD1):c.11916T>C (p.Thr3972=)
|
rs1473205243
|
0.00002
|
|
NM_138694.4(PKHD1):c.11918C>T (p.Thr3973Ile)
|
rs773044015
|
0.00002
|
|
NM_138694.4(PKHD1):c.12117G>A (p.Lys4039=)
|
rs1268794606
|
0.00002
|
|
NM_138694.4(PKHD1):c.1240G>A (p.Val414Met)
|
rs1458077668
|
0.00002
|
|
NM_138694.4(PKHD1):c.2133C>T (p.Asn711=)
|
rs766225439
|
0.00002
|
|
NM_138694.4(PKHD1):c.2265G>A (p.Pro755=)
|
rs375603741
|
0.00002
|
|
NM_138694.4(PKHD1):c.2291C>T (p.Thr764Ile)
|
rs190315828
|
0.00002
|
|
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala)
|
rs199568593
|
0.00002
|
|
NM_138694.4(PKHD1):c.2726G>A (p.Arg909Gln)
|
rs201753421
|
0.00002
|
|
NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg)
|
rs773136605
|
0.00002
|
|
NM_138694.4(PKHD1):c.3890C>T (p.Ala1297Val)
|
rs747436583
|
0.00002
|
|
NM_138694.4(PKHD1):c.390+1G>T
|
rs752327566
|
0.00002
|
|
NM_138694.4(PKHD1):c.4199C>T (p.Ser1400Leu)
|
rs191201723
|
0.00002
|
|
NM_138694.4(PKHD1):c.4200G>A (p.Ser1400=)
|
rs767936065
|
0.00002
|
|
NM_138694.4(PKHD1):c.5513A>G (p.Tyr1838Cys)
|
rs777999875
|
0.00002
|
|
NM_138694.4(PKHD1):c.624T>C (p.His208=)
|
rs767511678
|
0.00002
|
|
NM_138694.4(PKHD1):c.663C>T (p.Tyr221=)
|
rs746417768
|
0.00002
|
|
NM_138694.4(PKHD1):c.7737G>A (p.Ala2579=)
|
rs759139294
|
0.00002
|
|
NM_138694.4(PKHD1):c.8036T>C (p.Leu2679Pro)
|
rs200129776
|
0.00002
|
|
NM_138694.4(PKHD1):c.8356A>G (p.Met2786Val)
|
rs762313489
|
0.00002
|
|
NM_138694.4(PKHD1):c.8425G>A (p.Gly2809Arg)
|
rs398124497
|
0.00002
|
|
NM_138694.4(PKHD1):c.8554+5G>C
|
rs1402749750
|
0.00002
|
|
NM_138694.4(PKHD1):c.873C>T (p.Thr291=)
|
rs769773725
|
0.00002
|
|
NM_152443.3(RDH12):c.410C>G (p.Ala137Gly)
|
rs779597637
|
0.00002
|
|
NM_152443.3(RDH12):c.481C>T (p.Arg161Trp)
|
rs759408031
|
0.00002
|
|
NM_152443.3(RDH12):c.542G>A (p.Gly181Asp)
|
rs374403088
|
0.00002
|
|
NM_152443.3(RDH12):c.621T>C (p.Asn207=)
|
rs747183193
|
0.00002
|
|
NM_152443.3(RDH12):c.634C>T (p.Arg212Cys)
|
rs146653515
|
0.00002
|
|
NM_152618.3(BBS12):c.1292G>A (p.Arg431Gln)
|
rs776216693
|
0.00002
|
|
NM_152618.3(BBS12):c.2021G>A (p.Arg674His)
|
rs766952842
|
0.00002
|
|
NM_153676.4(USH1C):c.1183C>T (p.His395Tyr)
|
rs769984840
|
0.00002
|
|
NM_153676.4(USH1C):c.216G>A (p.Val72=)
|
rs151045328
|
0.00002
|
|
NM_153676.4(USH1C):c.2281G>A (p.Glu761Lys)
|
rs771504780
|
0.00002
|
|
NM_153676.4(USH1C):c.2381-10C>T
|
rs765925104
|
0.00002
|
|
NM_153676.4(USH1C):c.266G>A (p.Arg89His)
|
rs749647539
|
0.00002
|
|
NM_153676.4(USH1C):c.379G>A (p.Gly127Arg)
|
rs768207716
|
0.00002
|
|
NM_153676.4(USH1C):c.497-4G>A
|
rs397517881
|
0.00002
|
|
NM_153676.4(USH1C):c.614G>A (p.Arg205Gln)
|
rs777321803
|
0.00002
|
|
NM_153676.4(USH1C):c.844C>T (p.Arg282Cys)
|
rs145245642
|
0.00002
|
|
NM_153676.4(USH1C):c.845G>A (p.Arg282His)
|
rs779111365
|
0.00002
|
|
NM_153717.3(EVC):c.1448C>T (p.Pro483Leu)
|
rs376440801
|
0.00002
|
|
NM_153717.3(EVC):c.2635C>T (p.Gln879Ter)
|
rs121908424
|
0.00002
|
|
NM_153717.3(EVC):c.2770C>T (p.Arg924Cys)
|
rs772327981
|
0.00002
|
|
NM_153717.3(EVC):c.2782+1G>T
|
rs1007534611
|
0.00002
|
|
NM_174878.3(CLRN1):c.407G>A (p.Gly136Glu)
|
rs779258184
|
0.00002
|
|
NM_174878.3(CLRN1):c.66C>A (p.Leu22=)
|
rs375543586
|
0.00002
|
|
NM_199292.3(TH):c.-71C>T
|
rs549435434
|
0.00002
|
|
NM_201253.3(CRB1):c.1096A>C (p.Ile366Leu)
|
rs763122264
|
0.00002
|
|
NM_201253.3(CRB1):c.1452C>T (p.Thr484=)
|
rs372844443
|
0.00002
|
|
NM_201253.3(CRB1):c.1841G>T (p.Gly614Val)
|
rs763111500
|
0.00002
|
|
NM_201253.3(CRB1):c.2129A>T (p.Glu710Val)
|
rs145282040
|
0.00002
|
|
NM_201253.3(CRB1):c.2875G>A (p.Gly959Ser)
|
rs557111131
|
0.00002
|
|
NM_201253.3(CRB1):c.2901G>T (p.Gly967=)
|
rs773815247
|
0.00002
|
|
NM_201253.3(CRB1):c.3676G>T (p.Gly1226Ter)
|
rs757740068
|
0.00002
|
|
NM_201253.3(CRB1):c.4061C>A (p.Ala1354Asp)
|
rs760100325
|
0.00002
|
|
NM_201253.3(CRB1):c.867G>A (p.Thr289=)
|
rs147244321
|
0.00002
|
|
NM_206933.4(USH2A):c.1001G>A (p.Arg334Gln)
|
rs758303489
|
0.00002
|
|
NM_206933.4(USH2A):c.1011T>C (p.Pro337=)
|
rs146950070
|
0.00002
|
|
NM_206933.4(USH2A):c.10145T>G (p.Val3382Gly)
|
rs1198689866
|
0.00002
|
|
NM_206933.4(USH2A):c.10633C>T (p.Arg3545Trp)
|
rs145718329
|
0.00002
|
|
NM_206933.4(USH2A):c.10852G>A (p.Gly3618Ser)
|
rs778158900
|
0.00002
|
|
NM_206933.4(USH2A):c.10969A>G (p.Thr3657Ala)
|
rs747966256
|
0.00002
|
|
NM_206933.4(USH2A):c.11007C>T (p.Ser3669=)
|
rs752000364
|
0.00002
|
|
NM_206933.4(USH2A):c.11048-2A>G
|
rs200871041
|
0.00002
|
|
NM_206933.4(USH2A):c.11103T>C (p.Tyr3701=)
|
rs143453173
|
0.00002
|
|
NM_206933.4(USH2A):c.1215T>C (p.Asn405=)
|
rs745587883
|
0.00002
|
|
NM_206933.4(USH2A):c.1227G>A (p.Trp409Ter)
|
rs397517979
|
0.00002
|
|
NM_206933.4(USH2A):c.12284G>A (p.Gly4095Asp)
|
rs759898765
|
0.00002
|
|
NM_206933.4(USH2A):c.12295-2A>G
|
rs151148854
|
0.00002
|
|
NM_206933.4(USH2A):c.12361C>T (p.Arg4121Cys)
|
rs772357461
|
0.00002
|
|
NM_206933.4(USH2A):c.12457G>A (p.Ala4153Thr)
|
rs145531316
|
0.00002
|
|
NM_206933.4(USH2A):c.12724A>G (p.Thr4242Ala)
|
rs140010020
|
0.00002
|
|
NM_206933.4(USH2A):c.13139C>T (p.Thr4380Ile)
|
rs533179037
|
0.00002
|
|
NM_206933.4(USH2A):c.13364C>T (p.Thr4455Ile)
|
rs373152283
|
0.00002
|
|
NM_206933.4(USH2A):c.13485T>A (p.Arg4495=)
|
rs533727047
|
0.00002
|
|
NM_206933.4(USH2A):c.13621C>T (p.Gln4541Ter)
|
rs765476745
|
0.00002
|
|
NM_206933.4(USH2A):c.13955C>A (p.Thr4652Asn)
|
rs148605973
|
0.00002
|
|
NM_206933.4(USH2A):c.14344-1G>T
|
rs919142559
|
0.00002
|
|
NM_206933.4(USH2A):c.14625C>T (p.Ala4875=)
|
rs773859845
|
0.00002
|
|
NM_206933.4(USH2A):c.14658G>T (p.Lys4886Asn)
|
rs1394766722
|
0.00002
|
|
NM_206933.4(USH2A):c.15017C>T (p.Thr5006Met)
|
rs757676723
|
0.00002
|
|
NM_206933.4(USH2A):c.15139A>C (p.Met5047Leu)
|
rs773541511
|
0.00002
|
|
NM_206933.4(USH2A):c.15248A>T (p.Gln5083Leu)
|
rs774644535
|
0.00002
|
|
NM_206933.4(USH2A):c.15520-1G>A
|
rs767265734
|
0.00002
|
|
NM_206933.4(USH2A):c.15547G>A (p.Ala5183Thr)
|
rs267598369
|
0.00002
|
|
NM_206933.4(USH2A):c.15582C>T (p.Arg5194=)
|
rs775780004
|
0.00002
|
|
NM_206933.4(USH2A):c.1582G>A (p.Asp528Asn)
|
rs551424240
|
0.00002
|
|
NM_206933.4(USH2A):c.2330G>A (p.Cys777Tyr)
|
rs192119790
|
0.00002
|
|
NM_206933.4(USH2A):c.2653C>T (p.His885Tyr)
|
rs746071929
|
0.00002
|
|
NM_206933.4(USH2A):c.3212A>G (p.Asn1071Ser)
|
rs533927645
|
0.00002
|
|
NM_206933.4(USH2A):c.3327C>T (p.Tyr1109=)
|
rs758705873
|
0.00002
|
|
NM_206933.4(USH2A):c.3666G>A (p.Ala1222=)
|
rs764479854
|
0.00002
|
|
NM_206933.4(USH2A):c.3980C>T (p.Thr1327Ile)
|
rs774663133
|
0.00002
|
|
NM_206933.4(USH2A):c.4645C>T (p.Arg1549Ter)
|
rs199679165
|
0.00002
|
|
NM_206933.4(USH2A):c.4803A>T (p.Gln1601His)
|
rs761306493
|
0.00002
|
|
NM_206933.4(USH2A):c.565C>T (p.Arg189Cys)
|
rs370653547
|
0.00002
|
|
NM_206933.4(USH2A):c.5829T>C (p.Asp1943=)
|
rs140922350
|
0.00002
|
|
NM_206933.4(USH2A):c.6050-3T>C
|
rs368789291
|
0.00002
|
|
NM_206933.4(USH2A):c.6197C>T (p.Ser2066Phe)
|
rs2030530878
|
0.00002
|
|
NM_206933.4(USH2A):c.6448G>T (p.Val2150Phe)
|
rs756234447
|
0.00002
|
|
NM_206933.4(USH2A):c.6800C>T (p.Pro2267Leu)
|
rs397518027
|
0.00002
|
|
NM_206933.4(USH2A):c.6883G>A (p.Gly2295Arg)
|
rs768253909
|
0.00002
|
|
NM_206933.4(USH2A):c.7183C>T (p.Leu2395Phe)
|
rs372950392
|
0.00002
|
|
NM_206933.4(USH2A):c.7776A>G (p.Pro2592=)
|
rs753565758
|
0.00002
|
|
NM_206933.4(USH2A):c.7906A>G (p.Thr2636Ala)
|
rs752549947
|
0.00002
|
|
NM_206933.4(USH2A):c.8028G>A (p.Pro2676=)
|
rs766443785
|
0.00002
|
|
NM_206933.4(USH2A):c.8084A>G (p.Lys2695Arg)
|
rs770631315
|
0.00002
|
|
NM_206933.4(USH2A):c.8188C>A (p.Pro2730Thr)
|
rs768532694
|
0.00002
|
|
NM_206933.4(USH2A):c.8222A>G (p.Gln2741Arg)
|
rs374456269
|
0.00002
|
|
NM_206933.4(USH2A):c.8443A>G (p.Thr2815Ala)
|
rs780543913
|
0.00002
|
|
NM_206933.4(USH2A):c.8486T>C (p.Val2829Ala)
|
rs759063087
|
0.00002
|
|
NM_206933.4(USH2A):c.8645G>C (p.Gly2882Ala)
|
rs527467361
|
0.00002
|
|
NM_206933.4(USH2A):c.8741G>A (p.Arg2914Gln)
|
rs760779633
|
0.00002
|
|
NM_206933.4(USH2A):c.9047G>A (p.Cys3016Tyr)
|
rs759365458
|
0.00002
|
|
NM_206933.4(USH2A):c.9400C>T (p.Arg3134Trp)
|
rs749482634
|
0.00002
|
|
NM_206933.4(USH2A):c.9415A>G (p.Ile3139Val)
|
rs750899958
|
0.00002
|
|
NM_206933.4(USH2A):c.9921T>G (p.Cys3307Trp)
|
rs1057519382
|
0.00002
|
|
NM_206933.4(USH2A):c.9950G>A (p.Arg3317His)
|
rs140746096
|
0.00002
|
|
NR_003051.3(RMRP):n.-24_-12dup
|
rs781730798
|
0.00002
|
|
NR_003051.4(RMRP):n.122A>G
|
rs557578605
|
0.00002
|
|
NR_003051.4(RMRP):n.163C>T
|
rs370797103
|
0.00002
|
|
NR_003051.4(RMRP):n.174C>T
|
rs565056797
|
0.00002
|
|
NR_003051.4(RMRP):n.17C>T
|
rs772664375
|
0.00002
|
|
NR_003051.4(RMRP):n.18C>T
|
rs769169620
|
0.00002
|
|
NR_003051.4(RMRP):n.203C>T
|
rs183570217
|
0.00002
|
|
NR_003051.4(RMRP):n.265G>A
|
rs578123788
|
0.00002
|
|
NR_003051.4(RMRP):n.60T>C
|
rs1040824418
|
0.00002
|
|
NM_000019.4(ACAT1):c.1160T>C (p.Ile387Thr)
|
rs748303093
|
0.00001
|
|
NM_000019.4(ACAT1):c.1199A>G (p.His400Arg)
|
rs761086326
|
0.00001
|
|
NM_000019.4(ACAT1):c.1200T>C (p.His400=)
|
rs748749897
|
0.00001
|
|
NM_000019.4(ACAT1):c.155T>C (p.Ile52Thr)
|
rs151080188
|
0.00001
|
|
NM_000019.4(ACAT1):c.171C>A (p.Gly57=)
|
rs757128075
|
0.00001
|
|
NM_000019.4(ACAT1):c.472A>G (p.Asn158Asp)
|
rs148639841
|
0.00001
|
|
NM_000019.4(ACAT1):c.489G>T (p.Met163Ile)
|
rs778705529
|
0.00001
|
|
NM_000019.4(ACAT1):c.5C>T (p.Ala2Val)
|
rs915506786
|
0.00001
|
|
NM_000019.4(ACAT1):c.814C>T (p.Gln272Ter)
|
rs120074144
|
0.00001
|
|
NM_000023.4(SGCA):c.1015G>A (p.Gly339Arg)
|
rs540254057
|
0.00001
|
|
NM_000023.4(SGCA):c.101G>A (p.Arg34His)
|
rs371675217
|
0.00001
|
|
NM_000023.4(SGCA):c.1034G>A (p.Arg345Gln)
|
rs771876078
|
0.00001
|
|
NM_000023.4(SGCA):c.1064G>A (p.Arg355Gln)
|
rs1270625423
|
0.00001
|
|
NM_000023.4(SGCA):c.131C>T (p.Thr44Met)
|
rs770516658
|
0.00001
|
|
NM_000023.4(SGCA):c.132G>A (p.Thr44=)
|
rs886044035
|
0.00001
|
|
NM_000023.4(SGCA):c.289G>C (p.Asp97His)
|
rs774299871
|
0.00001
|
|
NM_000023.4(SGCA):c.37+3A>G
|
rs1370709181
|
0.00001
|
|
NM_000023.4(SGCA):c.409G>A (p.Glu137Lys)
|
rs372210292
|
0.00001
|
|
NM_000023.4(SGCA):c.430G>A (p.Asp144Asn)
|
rs771485989
|
0.00001
|
|
NM_000023.4(SGCA):c.555C>A (p.Val185=)
|
rs201518390
|
0.00001
|
|
NM_000023.4(SGCA):c.574C>T (p.Arg192Ter)
|
rs387907298
|
0.00001
|
|
NM_000023.4(SGCA):c.591C>T (p.Tyr197=)
|
rs756137267
|
0.00001
|
|
NM_000023.4(SGCA):c.592A>G (p.Ile198Val)
|
rs375463037
|
0.00001
|
|
NM_000023.4(SGCA):c.64G>A (p.Glu22Lys)
|
rs753784732
|
0.00001
|
|
NM_000023.4(SGCA):c.661C>T (p.Arg221Cys)
|
rs748936034
|
0.00001
|
|
NM_000023.4(SGCA):c.700G>A (p.Asp234Asn)
|
rs760608643
|
0.00001
|
|
NM_000023.4(SGCA):c.721C>T (p.Arg241Cys)
|
rs753972912
|
0.00001
|
|
NM_000023.4(SGCA):c.737A>G (p.Asn246Ser)
|
rs886042858
|
0.00001
|
|
NM_000023.4(SGCA):c.747+3G>A
|
rs368388538
|
0.00001
|
|
NM_000023.4(SGCA):c.80C>T (p.Thr27Met)
|
rs565069721
|
0.00001
|
|
NM_000023.4(SGCA):c.847G>C (p.Asp283His)
|
rs766674286
|
0.00001
|
|
NM_000023.4(SGCA):c.851G>A (p.Arg284His)
|
rs369359375
|
0.00001
|
|
NM_000023.4(SGCA):c.974C>T (p.Ala325Val)
|
rs780200261
|
0.00001
|
|
NM_000057.4(BLM):c.1010C>T (p.Thr337Ile)
|
rs1176242752
|
0.00001
|
|
NM_000057.4(BLM):c.1032A>T (p.Lys344Asn)
|
rs148701303
|
0.00001
|
|
NM_000057.4(BLM):c.1039A>G (p.Lys347Glu)
|
rs375250788
|
0.00001
|
|
NM_000057.4(BLM):c.1091G>A (p.Arg364Lys)
|
rs1374291628
|
0.00001
|
|
NM_000057.4(BLM):c.1156A>G (p.Ile386Val)
|
rs757636363
|
0.00001
|
|
NM_000057.4(BLM):c.1191G>C (p.Gly397=)
|
rs780393464
|
0.00001
|
|
NM_000057.4(BLM):c.1210C>T (p.Arg404Trp)
|
rs770721765
|
0.00001
|
|
NM_000057.4(BLM):c.1211G>A (p.Arg404Gln)
|
rs776516663
|
0.00001
|
|
NM_000057.4(BLM):c.1220+5C>G
|
rs1596229075
|
0.00001
|
|
NM_000057.4(BLM):c.122C>T (p.Thr41Ile)
|
rs533736036
|
0.00001
|
|
NM_000057.4(BLM):c.1238A>T (p.Glu413Val)
|
rs1215111361
|
0.00001
|
|
NM_000057.4(BLM):c.1266T>C (p.Ser422=)
|
rs1895947616
|
0.00001
|
|
NM_000057.4(BLM):c.1277C>T (p.Ser426Leu)
|
rs768127491
|
0.00001
|
|
NM_000057.4(BLM):c.1284G>A (p.Trp428Ter)
|
rs1057516964
|
0.00001
|
|
NM_000057.4(BLM):c.1288T>C (p.Tyr430His)
|
rs1314473930
|
0.00001
|
|
NM_000057.4(BLM):c.1303C>T (p.Leu435Phe)
|
rs755256088
|
0.00001
|
|
NM_000057.4(BLM):c.1305T>C (p.Leu435=)
|
rs778967807
|
0.00001
|
|
NM_000057.4(BLM):c.1348A>G (p.Met450Val)
|
rs200385935
|
0.00001
|
|
NM_000057.4(BLM):c.137A>G (p.Asn46Ser)
|
rs1237910576
|
0.00001
|
|
NM_000057.4(BLM):c.1412C>T (p.Thr471Ile)
|
rs1281556342
|
0.00001
|
|
NM_000057.4(BLM):c.1432G>A (p.Gly478Arg)
|
rs1490929990
|
0.00001
|
|
NM_000057.4(BLM):c.1433G>C (p.Gly478Ala)
|
rs759810567
|
0.00001
|
|
NM_000057.4(BLM):c.1436T>G (p.Phe479Cys)
|
rs1418071613
|
0.00001
|
|
NM_000057.4(BLM):c.1474T>C (p.Phe492Leu)
|
rs764182382
|
0.00001
|
|
NM_000057.4(BLM):c.1480A>G (p.Thr494Ala)
|
rs1596229967
|
0.00001
|
|
NM_000057.4(BLM):c.1490A>G (p.Gln497Arg)
|
rs368547042
|
0.00001
|
|
NM_000057.4(BLM):c.1496C>T (p.Ser499Phe)
|
rs778700833
|
0.00001
|
|
NM_000057.4(BLM):c.1536A>G (p.Gly512=)
|
rs777277614
|
0.00001
|
|
NM_000057.4(BLM):c.1612G>C (p.Ala538Pro)
|
rs1318049766
|
0.00001
|
|
NM_000057.4(BLM):c.1613C>T (p.Ala538Val)
|
rs778593808
|
0.00001
|
|
NM_000057.4(BLM):c.1640C>T (p.Thr547Ile)
|
rs758161226
|
0.00001
|
|
NM_000057.4(BLM):c.1741A>G (p.Thr581Ala)
|
rs587778108
|
0.00001
|
|
NM_000057.4(BLM):c.1751A>G (p.Tyr584Cys)
|
rs765187809
|
0.00001
|
|
NM_000057.4(BLM):c.1771C>T (p.Arg591Trp)
|
rs777647725
|
0.00001
|
|
NM_000057.4(BLM):c.1772G>A (p.Arg591Gln)
|
rs28385012
|
0.00001
|
|
NM_000057.4(BLM):c.1774C>T (p.Pro592Ser)
|
rs1197143678
|
0.00001
|
|
NM_000057.4(BLM):c.1785A>T (p.Ser595=)
|
rs79871543
|
0.00001
|
|
NM_000057.4(BLM):c.1825C>A (p.Pro609Thr)
|
rs770255643
|
0.00001
|
|
NM_000057.4(BLM):c.1833A>G (p.Ser611=)
|
rs747181657
|
0.00001
|
|
NM_000057.4(BLM):c.1841C>T (p.Ala614Val)
|
rs1285727934
|
0.00001
|
|
NM_000057.4(BLM):c.1863G>A (p.Glu621=)
|
rs374965438
|
0.00001
|
|
NM_000057.4(BLM):c.1968dup (p.Lys657fs)
|
rs772785079
|
0.00001
|
|
NM_000057.4(BLM):c.1969A>G (p.Lys657Glu)
|
rs758782238
|
0.00001
|
|
NM_000057.4(BLM):c.2045G>A (p.Gly682Asp)
|
rs1342307269
|
0.00001
|
|
NM_000057.4(BLM):c.204C>T (p.Thr68=)
|
rs199927688
|
0.00001
|
|
NM_000057.4(BLM):c.2051A>C (p.Asp684Ala)
|
rs1262628899
|
0.00001
|
|
NM_000057.4(BLM):c.2087G>A (p.Ser696Asn)
|
rs773097986
|
0.00001
|
|
NM_000057.4(BLM):c.214T>G (p.Ser72Ala)
|
rs146521411
|
0.00001
|
|
NM_000057.4(BLM):c.2161G>A (p.Val721Ile)
|
rs559554788
|
0.00001
|
|
NM_000057.4(BLM):c.2169A>G (p.Gln723=)
|
rs781635047
|
0.00001
|
|
NM_000057.4(BLM):c.2193T>G (p.Asp731Glu)
|
rs756354696
|
0.00001
|
|
NM_000057.4(BLM):c.2241A>G (p.Thr747=)
|
rs1060503987
|
0.00001
|
|
NM_000057.4(BLM):c.2250_2251insAAAT (p.Leu751fs)
|
rs786204471
|
0.00001
|
|
NM_000057.4(BLM):c.2271C>G (p.Asp757Glu)
|
rs773761682
|
0.00001
|
|
NM_000057.4(BLM):c.2308-5C>T
|
rs957805754
|
0.00001
|
|
NM_000057.4(BLM):c.2351A>G (p.Tyr784Cys)
|
rs753635754
|
0.00001
|
|
NM_000057.4(BLM):c.2357G>A (p.Arg786Lys)
|
rs369065966
|
0.00001
|
|
NM_000057.4(BLM):c.2360A>G (p.Lys787Arg)
|
rs778695045
|
0.00001
|
|
NM_000057.4(BLM):c.2367G>C (p.Leu789Phe)
|
rs1060500651
|
0.00001
|
|
NM_000057.4(BLM):c.2372G>A (p.Arg791His)
|
rs1322472868
|
0.00001
|
|
NM_000057.4(BLM):c.2381T>C (p.Ile794Thr)
|
rs373819952
|
0.00001
|
|
NM_000057.4(BLM):c.2422C>T (p.Arg808Cys)
|
rs759330541
|
0.00001
|
|
NM_000057.4(BLM):c.2447T>A (p.Met816Lys)
|
rs1896237707
|
0.00001
|
|
NM_000057.4(BLM):c.2453G>A (p.Arg818His)
|
rs780514723
|
0.00001
|
|
NM_000057.4(BLM):c.2474C>T (p.Pro825Leu)
|
rs749632465
|
0.00001
|
|
NM_000057.4(BLM):c.2488dup (p.Thr830fs)
|
rs367543019
|
0.00001
|
|
NM_000057.4(BLM):c.2505C>G (p.Pro835=)
|
rs1023396216
|
0.00001
|
|
NM_000057.4(BLM):c.2506_2507del (p.Arg836fs)
|
rs367543024
|
0.00001
|
|
NM_000057.4(BLM):c.2524C>A (p.Leu842Met)
|
rs1209722688
|
0.00001
|
|
NM_000057.4(BLM):c.2551C>G (p.Gln851Glu)
|
rs767638712
|
0.00001
|
|
NM_000057.4(BLM):c.2555+8G>A
|
rs1388713132
|
0.00001
|
|
NM_000057.4(BLM):c.2561G>A (p.Ser854Asn)
|
rs758692622
|
0.00001
|
|
NM_000057.4(BLM):c.2604G>A (p.Pro868=)
|
rs768447097
|
0.00001
|
|
NM_000057.4(BLM):c.261G>A (p.Lys87=)
|
rs372668612
|
0.00001
|
|
NM_000057.4(BLM):c.264C>A (p.Asp88Glu)
|
rs757984551
|
0.00001
|
|
NM_000057.4(BLM):c.2662T>C (p.Tyr888His)
|
rs758696992
|
0.00001
|
|
NM_000057.4(BLM):c.2663-1G>C
|
rs1444037196
|
0.00001
|
|
NM_000057.4(BLM):c.2674A>G (p.Ile892Val)
|
rs764587569
|
0.00001
|
|
NM_000057.4(BLM):c.2679T>C (p.Ile893=)
|
rs751945434
|
0.00001
|
|
NM_000057.4(BLM):c.2691C>T (p.Ser897=)
|
rs756155242
|
0.00001
|
|
NM_000057.4(BLM):c.2732A>G (p.Asp911Gly)
|
rs1596252149
|
0.00001
|
|
NM_000057.4(BLM):c.2740G>A (p.Ala914Thr)
|
rs372013507
|
0.00001
|
|
NM_000057.4(BLM):c.2744C>T (p.Ala915Val)
|
rs775026151
|
0.00001
|
|
NM_000057.4(BLM):c.2803A>G (p.Ile935Val)
|
rs774916971
|
0.00001
|
|
NM_000057.4(BLM):c.2806A>G (p.Asn936Asp)
|
rs1422513540
|
0.00001
|
|
NM_000057.4(BLM):c.2824-2A>T
|
rs745538883
|
0.00001
|
|
NM_000057.4(BLM):c.2867C>T (p.Pro956Leu)
|
rs962069708
|
0.00001
|
|
NM_000057.4(BLM):c.2868G>A (p.Pro956=)
|
rs199861261
|
0.00001
|
|
NM_000057.4(BLM):c.2872G>A (p.Val958Met)
|
rs775006576
|
0.00001
|
|
NM_000057.4(BLM):c.2915G>T (p.Gly972Val)
|
rs150475674
|
0.00001
|
|
NM_000057.4(BLM):c.2923C>G (p.Gln975Glu)
|
rs757148522
|
0.00001
|
|
NM_000057.4(BLM):c.2975T>C (p.Phe992Ser)
|
rs371418699
|
0.00001
|
|
NM_000057.4(BLM):c.2983T>C (p.Tyr995His)
|
rs142723411
|
0.00001
|
|
NM_000057.4(BLM):c.3014T>C (p.Ile1005Thr)
|
rs772671554
|
0.00001
|
|
NM_000057.4(BLM):c.302G>C (p.Arg101Thr)
|
rs781707344
|
0.00001
|
|
NM_000057.4(BLM):c.3079G>A (p.Val1027Ile)
|
rs1300299815
|
0.00001
|
|
NM_000057.4(BLM):c.3098T>C (p.Ile1033Thr)
|
rs1060500647
|
0.00001
|
|
NM_000057.4(BLM):c.3103G>C (p.Glu1035Gln)
|
rs764965627
|
0.00001
|
|
NM_000057.4(BLM):c.311C>T (p.Ser104Leu)
|
rs367543030
|
0.00001
|
|
NM_000057.4(BLM):c.3195T>C (p.Asn1065=)
|
rs1297274221
|
0.00001
|
|
NM_000057.4(BLM):c.3210+4A>G
|
rs776621429
|
0.00001
|
|
NM_000057.4(BLM):c.3236A>G (p.Asp1079Gly)
|
rs776714693
|
0.00001
|
|
NM_000057.4(BLM):c.3278C>T (p.Ser1093Leu)
|
rs367543017
|
0.00001
|
|
NM_000057.4(BLM):c.3293G>A (p.Arg1098Lys)
|
rs912777535
|
0.00001
|
|
NM_000057.4(BLM):c.3298A>G (p.Ile1100Val)
|
rs1897079693
|
0.00001
|
|
NM_000057.4(BLM):c.329A>G (p.Asp110Gly)
|
rs1292239409
|
0.00001
|
|
NM_000057.4(BLM):c.3307G>A (p.Val1103Ile)
|
rs748331529
|
0.00001
|
|
NM_000057.4(BLM):c.3308T>C (p.Val1103Ala)
|
rs1481919924
|
0.00001
|
|
NM_000057.4(BLM):c.3331A>G (p.Met1111Val)
|
rs1169507483
|
0.00001
|
|
NM_000057.4(BLM):c.3345C>T (p.Val1115=)
|
rs773893026
|
0.00001
|
|
NM_000057.4(BLM):c.3348C>T (p.Asp1116=)
|
rs372697241
|
0.00001
|
|
NM_000057.4(BLM):c.3371C>G (p.Ala1124Gly)
|
rs751765688
|
0.00001
|
|
NM_000057.4(BLM):c.3416G>A (p.Arg1139Gln)
|
rs771776126
|
0.00001
|
|
NM_000057.4(BLM):c.343C>T (p.Pro115Ser)
|
rs1173491187
|
0.00001
|
|
NM_000057.4(BLM):c.3449T>C (p.Ile1150Thr)
|
rs1378138456
|
0.00001
|
|
NM_000057.4(BLM):c.344C>T (p.Pro115Leu)
|
rs371100621
|
0.00001
|
|
NM_000057.4(BLM):c.3478T>C (p.Tyr1160His)
|
rs752389778
|
0.00001
|
|
NM_000057.4(BLM):c.3485A>G (p.Asn1162Ser)
|
rs1237460907
|
0.00001
|
|
NM_000057.4(BLM):c.3505G>A (p.Ala1169Thr)
|
rs777492549
|
0.00001
|
|
NM_000057.4(BLM):c.353T>C (p.Val118Ala)
|
rs768933887
|
0.00001
|
|
NM_000057.4(BLM):c.3558+3A>G
|
rs766386042
|
0.00001
|
|
NM_000057.4(BLM):c.3559G>A (p.Val1187Ile)
|
rs547814390
|
0.00001
|
|
NM_000057.4(BLM):c.3568A>G (p.Met1190Val)
|
rs764005828
|
0.00001
|
|
NM_000057.4(BLM):c.3569T>C (p.Met1190Thr)
|
rs1555424373
|
0.00001
|
|
NM_000057.4(BLM):c.3585C>T (p.Ser1195=)
|
rs1023322113
|
0.00001
|
|
NM_000057.4(BLM):c.3608C>T (p.Ala1203Val)
|
rs757088548
|
0.00001
|
|
NM_000057.4(BLM):c.3609G>A (p.Ala1203=)
|
rs151114049
|
0.00001
|
|
NM_000057.4(BLM):c.3655C>G (p.Leu1219Val)
|
rs960821931
|
0.00001
|
|
NM_000057.4(BLM):c.3727dup (p.Thr1243fs)
|
rs367543021
|
0.00001
|
|
NM_000057.4(BLM):c.3728C>T (p.Thr1243Ile)
|
rs972145772
|
0.00001
|
|
NM_000057.4(BLM):c.372C>T (p.Asn124=)
|
rs776602757
|
0.00001
|
|
NM_000057.4(BLM):c.3752-6G>A
|
rs747358693
|
0.00001
|
|
NM_000057.4(BLM):c.3756T>A (p.Ser1252=)
|
rs771209895
|
0.00001
|
|
NM_000057.4(BLM):c.377C>T (p.Pro126Leu)
|
rs1060500650
|
0.00001
|
|
NM_000057.4(BLM):c.3827C>T (p.Ala1276Val)
|
rs760554566
|
0.00001
|
|
NM_000057.4(BLM):c.3865A>T (p.Thr1289Ser)
|
rs1060500645
|
0.00001
|
|
NM_000057.4(BLM):c.3867A>G (p.Thr1289=)
|
rs759000443
|
0.00001
|
|
NM_000057.4(BLM):c.3874G>A (p.Ala1292Thr)
|
rs757641454
|
0.00001
|
|
NM_000057.4(BLM):c.3875-2A>G
|
rs150421256
|
0.00001
|
|
NM_000057.4(BLM):c.3878A>G (p.Glu1293Gly)
|
rs746979958
|
0.00001
|
|
NM_000057.4(BLM):c.3923G>A (p.Gly1308Glu)
|
rs750865930
|
0.00001
|
|
NM_000057.4(BLM):c.3924A>T (p.Gly1308=)
|
rs1019687102
|
0.00001
|
|
NM_000057.4(BLM):c.3933C>T (p.Ala1311=)
|
rs756451802
|
0.00001
|
|
NM_000057.4(BLM):c.394C>T (p.Arg132Trp)
|
rs765089689
|
0.00001
|
|
NM_000057.4(BLM):c.3970C>T (p.His1324Tyr)
|
rs748943489
|
0.00001
|
|
NM_000057.4(BLM):c.3976T>A (p.Phe1326Ile)
|
rs1222912167
|
0.00001
|
|
NM_000057.4(BLM):c.3985A>G (p.Lys1329Glu)
|
rs190652985
|
0.00001
|
|
NM_000057.4(BLM):c.4019C>T (p.Pro1340Leu)
|
rs766959130
|
0.00001
|
|
NM_000057.4(BLM):c.4059T>A (p.Ser1353Arg)
|
rs1060500646
|
0.00001
|
|
NM_000057.4(BLM):c.4067A>G (p.Lys1356Arg)
|
rs945181516
|
0.00001
|
|
NM_000057.4(BLM):c.4076+3A>G
|
rs758564326
|
0.00001
|
|
NM_000057.4(BLM):c.4076G>A (p.Gly1359Glu)
|
rs1308799871
|
0.00001
|
|
NM_000057.4(BLM):c.4093A>G (p.Arg1365Gly)
|
rs759982203
|
0.00001
|
|
NM_000057.4(BLM):c.4094G>A (p.Arg1365Lys)
|
rs753011288
|
0.00001
|
|
NM_000057.4(BLM):c.4116A>C (p.Lys1372Asn)
|
rs753664070
|
0.00001
|
|
NM_000057.4(BLM):c.4130T>C (p.Ile1377Thr)
|
rs1555425416
|
0.00001
|
|
NM_000057.4(BLM):c.4140T>G (p.Ser1380Arg)
|
rs747834576
|
0.00001
|
|
NM_000057.4(BLM):c.4177A>G (p.Asn1393Asp)
|
rs548600410
|
0.00001
|
|
NM_000057.4(BLM):c.4205C>T (p.Pro1402Leu)
|
rs770313956
|
0.00001
|
|
NM_000057.4(BLM):c.4250C>T (p.Ser1417Leu)
|
rs1897533974
|
0.00001
|
|
NM_000057.4(BLM):c.437A>T (p.Asp146Val)
|
rs902876126
|
0.00001
|
|
NM_000057.4(BLM):c.44G>A (p.Arg15His)
|
rs752755503
|
0.00001
|
|
NM_000057.4(BLM):c.453C>A (p.Ile151=)
|
rs1200887609
|
0.00001
|
|
NM_000057.4(BLM):c.470T>C (p.Met157Thr)
|
rs773103759
|
0.00001
|
|
NM_000057.4(BLM):c.472G>A (p.Asp158Asn)
|
rs1210664602
|
0.00001
|
|
NM_000057.4(BLM):c.499A>G (p.Lys167Glu)
|
rs775285496
|
0.00001
|
|
NM_000057.4(BLM):c.506T>G (p.Phe169Cys)
|
rs1013299710
|
0.00001
|
|
NM_000057.4(BLM):c.555A>T (p.Lys185Asn)
|
rs766947105
|
0.00001
|
|
NM_000057.4(BLM):c.566G>A (p.Gly189Asp)
|
rs754306004
|
0.00001
|
|
NM_000057.4(BLM):c.572G>T (p.Arg191Ile)
|
rs569086568
|
0.00001
|
|
NM_000057.4(BLM):c.577T>C (p.Phe193Leu)
|
rs779348937
|
0.00001
|
|
NM_000057.4(BLM):c.607A>G (p.Thr203Ala)
|
rs1060500633
|
0.00001
|
|
NM_000057.4(BLM):c.632C>T (p.Pro211Leu)
|
rs758478914
|
0.00001
|
|
NM_000057.4(BLM):c.635C>T (p.Ser212Phe)
|
rs777938065
|
0.00001
|
|
NM_000057.4(BLM):c.657T>G (p.Asp219Glu)
|
rs1447056195
|
0.00001
|
|
NM_000057.4(BLM):c.671A>C (p.Gln224Pro)
|
rs770111029
|
0.00001
|
|
NM_000057.4(BLM):c.671A>G (p.Gln224Arg)
|
rs770111029
|
0.00001
|
|
NM_000057.4(BLM):c.700G>A (p.Asp234Asn)
|
rs878853555
|
0.00001
|
|
NM_000057.4(BLM):c.716A>G (p.Asp239Gly)
|
rs751699247
|
0.00001
|
|
NM_000057.4(BLM):c.727A>G (p.Ile243Val)
|
rs201722470
|
0.00001
|
|
NM_000057.4(BLM):c.763A>G (p.Ser255Gly)
|
rs1567035814
|
0.00001
|
|
NM_000057.4(BLM):c.803A>G (p.Asn268Ser)
|
rs763432949
|
0.00001
|
|
NM_000057.4(BLM):c.805A>G (p.Ser269Gly)
|
rs141411463
|
0.00001
|
|
NM_000057.4(BLM):c.896A>G (p.Asp299Gly)
|
rs1418306226
|
0.00001
|
|
NM_000057.4(BLM):c.933T>C (p.Ala311=)
|
rs1413246062
|
0.00001
|
|
NM_000057.4(BLM):c.98+6T>G
|
rs886051550
|
0.00001
|
|
NM_000057.4(BLM):c.992A>C (p.Lys331Thr)
|
rs1351404875
|
0.00001
|
|
NM_000070.3(CAPN3):c.1016C>T (p.Thr339Met)
|
rs747193982
|
0.00001
|
|
NM_000070.3(CAPN3):c.1034C>G (p.Pro345Arg)
|
rs746311413
|
0.00001
|
|
NM_000070.3(CAPN3):c.1034C>T (p.Pro345Leu)
|
rs746311413
|
0.00001
|
|
NM_000070.3(CAPN3):c.1063C>T (p.Arg355Trp)
|
rs749099493
|
0.00001
|
|
NM_000070.3(CAPN3):c.1194-9A>G
|
rs374665929
|
0.00001
|
|
NM_000070.3(CAPN3):c.1198T>A (p.Ser400Thr)
|
rs367863862
|
0.00001
|
|
NM_000070.3(CAPN3):c.1244A>G (p.Asn415Ser)
|
rs769367343
|
0.00001
|
|
NM_000070.3(CAPN3):c.1318C>T (p.Arg440Trp)
|
rs777323132
|
0.00001
|
|
NM_000070.3(CAPN3):c.1342C>T (p.Arg448Cys)
|
rs776043976
|
0.00001
|
|
NM_000070.3(CAPN3):c.1381C>T (p.Arg461Cys)
|
rs1274808359
|
0.00001
|
|
NM_000070.3(CAPN3):c.1382G>A (p.Arg461His)
|
rs767398783
|
0.00001
|
|
NM_000070.3(CAPN3):c.1405G>A (p.Asp469Asn)
|
rs1272589475
|
0.00001
|
|
NM_000070.3(CAPN3):c.1450C>A (p.Leu484Met)
|
rs144220513
|
0.00001
|
|
NM_000070.3(CAPN3):c.1478G>A (p.Arg493Gln)
|
rs143583537
|
0.00001
|
|
NM_000070.3(CAPN3):c.1504A>G (p.Ile502Val)
|
rs755433765
|
0.00001
|
|
NM_000070.3(CAPN3):c.1537-3C>G
|
rs187600280
|
0.00001
|
|
NM_000070.3(CAPN3):c.1584C>T (p.Asn528=)
|
rs530529988
|
0.00001
|
|
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp)
|
rs142004418
|
0.00001
|
|
NM_000070.3(CAPN3):c.1636C>T (p.Arg546Cys)
|
rs372438001
|
0.00001
|
|
NM_000070.3(CAPN3):c.1637G>A (p.Arg546His)
|
rs762091599
|
0.00001
|
|
NM_000070.3(CAPN3):c.163G>A (p.Gly55Arg)
|
rs753338235
|
0.00001
|
|
NM_000070.3(CAPN3):c.1650T>C (p.Pro550=)
|
rs766405190
|
0.00001
|
|
NM_000070.3(CAPN3):c.1696G>A (p.Glu566Lys)
|
rs747819910
|
0.00001
|
|
NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln)
|
rs121434544
|
0.00001
|
|
NM_000070.3(CAPN3):c.1800+6T>G
|
rs866147687
|
0.00001
|
|
NM_000070.3(CAPN3):c.1914+10C>T
|
rs886042479
|
0.00001
|
|
NM_000070.3(CAPN3):c.1951C>A (p.Gln651Lys)
|
rs1314405681
|
0.00001
|
|
NM_000070.3(CAPN3):c.1981del (p.Gln660_Ile661insTer)
|
rs762471207
|
0.00001
|
|
NM_000070.3(CAPN3):c.1992+3G>A
|
rs761188919
|
0.00001
|
|
NM_000070.3(CAPN3):c.2107C>T (p.Leu703Phe)
|
rs751443759
|
0.00001
|
|
NM_000070.3(CAPN3):c.2115+1G>A
|
rs766917640
|
0.00001
|
|
NM_000070.3(CAPN3):c.2116-6C>G
|
rs1287322728
|
0.00001
|
|
NM_000070.3(CAPN3):c.2259C>T (p.Asp753=)
|
rs755010088
|
0.00001
|
|
NM_000070.3(CAPN3):c.2288A>G (p.Tyr763Cys)
|
rs764459544
|
0.00001
|
|
NM_000070.3(CAPN3):c.2338G>C (p.Asp780His)
|
rs778768583
|
0.00001
|
|
NM_000070.3(CAPN3):c.2390A>G (p.His797Arg)
|
rs766630908
|
0.00001
|
|
NM_000070.3(CAPN3):c.2440-3C>G
|
rs761757153
|
0.00001
|
|
NM_000070.3(CAPN3):c.259C>G (p.Leu87Val)
|
rs558925493
|
0.00001
|
|
NM_000070.3(CAPN3):c.264T>G (p.Phe88Leu)
|
rs760626912
|
0.00001
|
|
NM_000070.3(CAPN3):c.371G>C (p.Gly124Ala)
|
rs587780291
|
0.00001
|
|
NM_000070.3(CAPN3):c.425A>G (p.Gln142Arg)
|
rs1173872855
|
0.00001
|
|
NM_000070.3(CAPN3):c.450C>T (p.Pro150=)
|
rs1255302975
|
0.00001
|
|
NM_000070.3(CAPN3):c.461G>C (p.Ser154Thr)
|
rs1177741110
|
0.00001
|
|
NM_000070.3(CAPN3):c.469G>A (p.Glu157Lys)
|
rs200944841
|
0.00001
|
|
NM_000070.3(CAPN3):c.477C>T (p.Tyr159=)
|
rs1401194449
|
0.00001
|
|
NM_000070.3(CAPN3):c.505C>T (p.Arg169Cys)
|
rs1349313665
|
0.00001
|
|
NM_000070.3(CAPN3):c.53G>A (p.Arg18Gln)
|
rs1375691407
|
0.00001
|
|
NM_000070.3(CAPN3):c.637C>T (p.His213Tyr)
|
rs747017866
|
0.00001
|
|
NM_000070.3(CAPN3):c.649G>A (p.Glu217Lys)
|
rs773001194
|
0.00001
|
|
NM_000070.3(CAPN3):c.769G>A (p.Glu257Lys)
|
rs1368398872
|
0.00001
|
|
NM_000070.3(CAPN3):c.797T>C (p.Ile266Thr)
|
rs761142449
|
0.00001
|
|
NM_000070.3(CAPN3):c.866G>A (p.Arg289Gln)
|
rs775084606
|
0.00001
|
|
NM_000070.3(CAPN3):c.917C>T (p.Pro306Leu)
|
rs1192202929
|
0.00001
|
|
NM_000070.3(CAPN3):c.947C>T (p.Thr316Ile)
|
rs1489416145
|
0.00001
|
|
NM_000070.3(CAPN3):c.949A>G (p.Ile317Val)
|
rs759881880
|
0.00001
|
|
NM_000070.3(CAPN3):c.964T>C (p.Tyr322His)
|
rs149591108
|
0.00001
|
|
NM_000070.3(CAPN3):c.998G>A (p.Gly333Asp)
|
rs200580015
|
0.00001
|
|
NM_000231.3(SGCG):c.100C>T (p.Arg34Cys)
|
rs747549369
|
0.00001
|
|
NM_000231.3(SGCG):c.22A>G (p.Thr8Ala)
|
rs771657671
|
0.00001
|
|
NM_000231.3(SGCG):c.236G>A (p.Arg79His)
|
rs375766013
|
0.00001
|
|
NM_000231.3(SGCG):c.267A>G (p.Pro89=)
|
rs149595403
|
0.00001
|
|
NM_000231.3(SGCG):c.346C>T (p.Arg116Cys)
|
rs191040430
|
0.00001
|
|
NM_000231.3(SGCG):c.385+2T>C
|
rs200206447
|
0.00001
|
|
NM_000231.3(SGCG):c.501A>T (p.Val167=)
|
rs560640452
|
0.00001
|
|
NM_000231.3(SGCG):c.581T>C (p.Leu194Ser)
|
rs547818652
|
0.00001
|
|
NM_000231.3(SGCG):c.615C>A (p.Ala205=)
|
rs142409090
|
0.00001
|
|
NM_000231.3(SGCG):c.625G>T (p.Val209Leu)
|
rs563129062
|
0.00001
|
|
NM_000231.3(SGCG):c.703C>T (p.Leu235Phe)
|
rs763780768
|
0.00001
|
|
NM_000231.3(SGCG):c.706G>A (p.Val236Met)
|
rs201788230
|
0.00001
|
|
NM_000231.3(SGCG):c.77T>C (p.Ile26Thr)
|
rs886043151
|
0.00001
|
|
NM_000232.5(SGCB):c.1A>G (p.Met1Val)
|
rs398123262
|
0.00001
|
|
NM_000232.5(SGCB):c.244A>G (p.Ile82Val)
|
rs143106297
|
0.00001
|
|
NM_000232.5(SGCB):c.370A>G (p.Lys124Glu)
|
rs760596229
|
0.00001
|
|
NM_000232.5(SGCB):c.502A>G (p.Met168Val)
|
rs754465904
|
0.00001
|
|
NM_000232.5(SGCB):c.544A>C (p.Thr182Pro)
|
rs751427686
|
0.00001
|
|
NM_000232.5(SGCB):c.556A>G (p.Thr186Ala)
|
rs1451834188
|
0.00001
|
|
NM_000232.5(SGCB):c.613A>T (p.Thr205Ser)
|
rs202114068
|
0.00001
|
|
NM_000232.5(SGCB):c.622-2A>G
|
rs780596734
|
0.00001
|
|
NM_000232.5(SGCB):c.716T>C (p.Ile239Thr)
|
rs759966387
|
0.00001
|
|
NM_000243.3(MEFV):c.1048C>T (p.Pro350Ser)
|
rs756751963
|
0.00001
|
|
NM_000243.3(MEFV):c.1222C>T (p.Arg408Trp)
|
rs758868622
|
0.00001
|
|
NM_000243.3(MEFV):c.1399G>A (p.Glu467Lys)
|
rs758485822
|
0.00001
|
|
NM_000243.3(MEFV):c.1450C>A (p.Leu484Met)
|
rs760827469
|
0.00001
|
|
NM_000243.3(MEFV):c.1455G>A (p.Glu485=)
|
rs958054431
|
0.00001
|
|
NM_000243.3(MEFV):c.1501C>T (p.Arg501Cys)
|
rs104895101
|
0.00001
|
|
NM_000243.3(MEFV):c.1508C>G (p.Ser503Cys)
|
rs190705322
|
0.00001
|
|
NM_000243.3(MEFV):c.1513G>T (p.Asp505Tyr)
|
rs150730718
|
0.00001
|
|
NM_000243.3(MEFV):c.1559A>T (p.Glu520Val)
|
rs769888172
|
0.00001
|
|
NM_000243.3(MEFV):c.1643C>A (p.Thr548Asn)
|
rs550970304
|
0.00001
|
|
NM_000243.3(MEFV):c.1681C>T (p.His561Tyr)
|
rs952604863
|
0.00001
|
|
NM_000243.3(MEFV):c.1744A>C (p.Met582Leu)
|
rs104895165
|
0.00001
|
|
NM_000243.3(MEFV):c.1897C>A (p.Pro633Thr)
|
rs1958893897
|
0.00001
|
|
NM_000243.3(MEFV):c.1899G>A (p.Pro633=)
|
rs776315170
|
0.00001
|
|
NM_000243.3(MEFV):c.1964G>T (p.Trp655Leu)
|
rs1432156641
|
0.00001
|
|
NM_000243.3(MEFV):c.2048C>T (p.Ser683Leu)
|
rs534682649
|
0.00001
|
|
NM_000243.3(MEFV):c.2065T>C (p.Trp689Arg)
|
rs566082564
|
0.00001
|
|
NM_000243.3(MEFV):c.2160C>G (p.Ile720Met)
|
rs104895102
|
0.00001
|
|
NM_000243.3(MEFV):c.2227T>C (p.Phe743Leu)
|
rs876661026
|
0.00001
|
|
NM_000243.3(MEFV):c.2314A>G (p.Ile772Val)
|
rs104895163
|
0.00001
|
|
NM_000243.3(MEFV):c.2330_2331del (p.Gly777fs)
|
rs753946287
|
0.00001
|
|
NM_000243.3(MEFV):c.2336G>T (p.Gly779Val)
|
rs1459541096
|
0.00001
|
|
NM_000243.3(MEFV):c.2338C>A (p.Pro780Thr)
|
rs104895154
|
0.00001
|
|
NM_000243.3(MEFV):c.233A>G (p.Asn78Ser)
|
rs145015653
|
0.00001
|
|
NM_000243.3(MEFV):c.301A>G (p.Thr101Ala)
|
rs1342717419
|
0.00001
|
|
NM_000243.3(MEFV):c.30G>A (p.Leu10=)
|
rs553819712
|
0.00001
|
|
NM_000243.3(MEFV):c.319T>G (p.Ser107Ala)
|
rs756029520
|
0.00001
|
|
NM_000243.3(MEFV):c.32C>G (p.Ser11Cys)
|
rs149693562
|
0.00001
|
|
NM_000243.3(MEFV):c.403T>A (p.Tyr135Asn)
|
rs145078602
|
0.00001
|
|
NM_000243.3(MEFV):c.405C>T (p.Tyr135=)
|
rs766323718
|
0.00001
|
|
NM_000243.3(MEFV):c.411C>T (p.Gly137=)
|
rs1266277814
|
0.00001
|
|
NM_000243.3(MEFV):c.443A>T (p.Glu148Val)
|
rs104895076
|
0.00001
|
|
NM_000243.3(MEFV):c.448G>A (p.Gly150Arg)
|
rs1959088372
|
0.00001
|
|
NM_000243.3(MEFV):c.48G>A (p.Leu16=)
|
rs777381107
|
0.00001
|
|
NM_000243.3(MEFV):c.515A>C (p.Gln172Pro)
|
rs104895211
|
0.00001
|
|
NM_000243.3(MEFV):c.524C>A (p.Pro175His)
|
rs104895126
|
0.00001
|
|
NM_000243.3(MEFV):c.530C>T (p.Thr177Ile)
|
rs104895143
|
0.00001
|
|
NM_000243.3(MEFV):c.536G>A (p.Ser179Asn)
|
rs104895125
|
0.00001
|
|
NM_000243.3(MEFV):c.552C>T (p.Gly184=)
|
rs1488496414
|
0.00001
|
|
NM_000243.3(MEFV):c.553G>A (p.Gly185Arg)
|
rs1266566289
|
0.00001
|
|
NM_000243.3(MEFV):c.575G>C (p.Arg192Thr)
|
rs1390723147
|
0.00001
|
|
NM_000243.3(MEFV):c.704C>T (p.Ser235Leu)
|
rs757793348
|
0.00001
|
|
NM_000243.3(MEFV):c.801A>G (p.Thr267=)
|
rs141455838
|
0.00001
|
|
NM_000243.3(MEFV):c.828A>C (p.Glu276Asp)
|
rs775020273
|
0.00001
|
|
NM_000243.3(MEFV):c.839G>A (p.Arg280Lys)
|
rs1437746739
|
0.00001
|
|
NM_000260.4(MYO7A):c.-46-2A>G
|
rs370329263
|
0.00001
|
|
NM_000260.4(MYO7A):c.1058C>T (p.Ala353Val)
|
rs557302067
|
0.00001
|
|
NM_000260.4(MYO7A):c.1059C>T (p.Ala353=)
|
rs573947142
|
0.00001
|
|
NM_000260.4(MYO7A):c.1133G>A (p.Arg378His)
|
rs397516282
|
0.00001
|
|
NM_000260.4(MYO7A):c.1195G>A (p.Val399Ile)
|
rs1162724549
|
0.00001
|
|
NM_000260.4(MYO7A):c.1299C>T (p.Ile433=)
|
rs782163200
|
0.00001
|
|
NM_000260.4(MYO7A):c.133-2A>G
|
rs782064437
|
0.00001
|
|
NM_000260.4(MYO7A):c.1401_1403dup (p.Arg467_His468insGln)
|
rs111033219
|
0.00001
|
|
NM_000260.4(MYO7A):c.1530C>T (p.Ile510=)
|
rs746423219
|
0.00001
|
|
NM_000260.4(MYO7A):c.1556G>A (p.Gly519Asp)
|
rs111033206
|
0.00001
|
|
NM_000260.4(MYO7A):c.1612T>C (p.Tyr538His)
|
rs1277502960
|
0.00001
|
|
NM_000260.4(MYO7A):c.1617C>G (p.Ile539Met)
|
rs782450807
|
0.00001
|
|
NM_000260.4(MYO7A):c.1690+3A>G
|
rs1555070313
|
0.00001
|
|
NM_000260.4(MYO7A):c.1710A>G (p.Arg570=)
|
rs782763913
|
0.00001
|
|
NM_000260.4(MYO7A):c.1796T>C (p.Met599Thr)
|
rs1007494594
|
0.00001
|
|
NM_000260.4(MYO7A):c.1814A>G (p.Lys605Arg)
|
rs968552859
|
0.00001
|
|
NM_000260.4(MYO7A):c.182C>G (p.Pro61Arg)
|
rs397516289
|
0.00001
|
|
NM_000260.4(MYO7A):c.1900C>T (p.Arg634Ter)
|
rs111033180
|
0.00001
|
|
NM_000260.4(MYO7A):c.1945C>T (p.Arg649Trp)
|
rs782503314
|
0.00001
|
|
NM_000260.4(MYO7A):c.1957G>A (p.Val653Met)
|
rs781885773
|
0.00001
|
|
NM_000260.4(MYO7A):c.1984A>T (p.Met662Leu)
|
rs782485961
|
0.00001
|
|
NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter)
|
rs111033201
|
0.00001
|
|
NM_000260.4(MYO7A):c.2025C>T (p.Arg675=)
|
rs797044658
|
0.00001
|
|
NM_000260.4(MYO7A):c.2034C>T (p.Phe678=)
|
rs782519043
|
0.00001
|
|
NM_000260.4(MYO7A):c.2084C>G (p.Ala695Gly)
|
rs1555079121
|
0.00001
|
|
NM_000260.4(MYO7A):c.2095-4C>G
|
rs763060756
|
0.00001
|
|
NM_000260.4(MYO7A):c.2225A>T (p.Lys742Ile)
|
rs782417254
|
0.00001
|
|
NM_000260.4(MYO7A):c.2323C>T (p.Gln775Ter)
|
rs201892914
|
0.00001
|
|
NM_000260.4(MYO7A):c.2335C>T (p.Arg779Trp)
|
rs919516884
|
0.00001
|
|
NM_000260.4(MYO7A):c.2337G>A (p.Arg779=)
|
rs782077299
|
0.00001
|
|
NM_000260.4(MYO7A):c.2362G>A (p.Gly788Arg)
|
rs1174297656
|
0.00001
|
|
NM_000260.4(MYO7A):c.2411G>A (p.Arg804Gln)
|
rs561347333
|
0.00001
|
|
NM_000260.4(MYO7A):c.2420A>C (p.His807Pro)
|
rs782585520
|
0.00001
|
|
NM_000260.4(MYO7A):c.2446C>T (p.Arg816Cys)
|
rs781926175
|
0.00001
|
|
NM_000260.4(MYO7A):c.2452A>G (p.Ile818Val)
|
rs374547580
|
0.00001
|
|
NM_000260.4(MYO7A):c.2467C>T (p.Arg823Cys)
|
rs995330889
|
0.00001
|
|
NM_000260.4(MYO7A):c.2480A>G (p.Tyr827Cys)
|
rs782474674
|
0.00001
|
|
NM_000260.4(MYO7A):c.2487G>A (p.Val829=)
|
rs1452906057
|
0.00001
|
|
NM_000260.4(MYO7A):c.2500C>T (p.Arg834Cys)
|
rs781869469
|
0.00001
|
|
NM_000260.4(MYO7A):c.2526C>T (p.Thr842=)
|
rs782594184
|
0.00001
|
|
NM_000260.4(MYO7A):c.2641C>T (p.Arg881Trp)
|
rs781860354
|
0.00001
|
|
NM_000260.4(MYO7A):c.2688G>A (p.Lys896=)
|
rs782192254
|
0.00001
|
|
NM_000260.4(MYO7A):c.2697G>A (p.Glu899=)
|
rs782531164
|
0.00001
|
|
NM_000260.4(MYO7A):c.2703G>A (p.Leu901=)
|
rs1198020087
|
0.00001
|
|
NM_000260.4(MYO7A):c.2819C>T (p.Ser940Leu)
|
rs1955180601
|
0.00001
|
|
NM_000260.4(MYO7A):c.293C>T (p.Thr98Met)
|
rs1434564086
|
0.00001
|
|
NM_000260.4(MYO7A):c.29T>C (p.Val10Ala)
|
rs878853237
|
0.00001
|
|
NM_000260.4(MYO7A):c.3056G>A (p.Arg1019Gln)
|
rs782204607
|
0.00001
|
|
NM_000260.4(MYO7A):c.3090C>T (p.Asp1030=)
|
rs782192026
|
0.00001
|
|
NM_000260.4(MYO7A):c.3276C>T (p.Gly1092=)
|
rs782130985
|
0.00001
|
|
NM_000260.4(MYO7A):c.3285+3G>A
|
rs1186153232
|
0.00001
|
|
NM_000260.4(MYO7A):c.3375+3G>A
|
rs397516299
|
0.00001
|
|
NM_000260.4(MYO7A):c.3437G>A (p.Arg1146Gln)
|
rs782140421
|
0.00001
|
|
NM_000260.4(MYO7A):c.3449A>G (p.Asn1150Ser)
|
rs1555087199
|
0.00001
|
|
NM_000260.4(MYO7A):c.345G>A (p.Ser115=)
|
rs781980240
|
0.00001
|
|
NM_000260.4(MYO7A):c.3490C>T (p.Arg1164Trp)
|
rs534291510
|
0.00001
|
|
NM_000260.4(MYO7A):c.3491G>A (p.Arg1164Gln)
|
rs782350886
|
0.00001
|
|
NM_000260.4(MYO7A):c.359G>A (p.Arg120His)
|
rs369493667
|
0.00001
|
|
NM_000260.4(MYO7A):c.3616G>A (p.Glu1206Lys)
|
rs201729482
|
0.00001
|
|
NM_000260.4(MYO7A):c.3660G>A (p.Pro1220=)
|
rs751497005
|
0.00001
|
|
NM_000260.4(MYO7A):c.3750+4C>T
|
rs764701863
|
0.00001
|
|
NM_000260.4(MYO7A):c.37G>C (p.Asp13His)
|
rs1555051432
|
0.00001
|
|
NM_000260.4(MYO7A):c.3943G>A (p.Gly1315Ser)
|
rs769771981
|
0.00001
|
|
NM_000260.4(MYO7A):c.3964G>A (p.Ala1322Thr)
|
rs1455741859
|
0.00001
|
|
NM_000260.4(MYO7A):c.4003G>A (p.Ala1335Thr)
|
rs375066152
|
0.00001
|
|
NM_000260.4(MYO7A):c.4032C>T (p.Leu1344=)
|
rs751639889
|
0.00001
|
|
NM_000260.4(MYO7A):c.4117C>T (p.Arg1373Ter)
|
rs766641715
|
0.00001
|
|
NM_000260.4(MYO7A):c.4243A>G (p.Thr1415Ala)
|
rs761755624
|
0.00001
|
|
NM_000260.4(MYO7A):c.4259G>A (p.Arg1420His)
|
rs568337942
|
0.00001
|
|
NM_000260.4(MYO7A):c.4261G>A (p.Glu1421Lys)
|
rs371268030
|
0.00001
|
|
NM_000260.4(MYO7A):c.4285G>A (p.Glu1429Lys)
|
rs374171831
|
0.00001
|
|
NM_000260.4(MYO7A):c.4293G>A (p.Trp1431Ter)
|
rs397516308
|
0.00001
|
|
NM_000260.4(MYO7A):c.4354C>T (p.Gln1452Ter)
|
rs778934538
|
0.00001
|
|
NM_000260.4(MYO7A):c.439C>T (p.Arg147Cys)
|
rs782808261
|
0.00001
|
|
NM_000260.4(MYO7A):c.4445C>T (p.Pro1482Leu)
|
rs1264130915
|
0.00001
|
|
NM_000260.4(MYO7A):c.4505A>G (p.Asp1502Gly)
|
rs757460257
|
0.00001
|
|
NM_000260.4(MYO7A):c.4512G>A (p.Gln1504=)
|
rs767236447
|
0.00001
|
|
NM_000260.4(MYO7A):c.4652C>T (p.Ala1551Val)
|
rs756854177
|
0.00001
|
|
NM_000260.4(MYO7A):c.470+1G>A
|
rs797044510
|
0.00001
|
|
NM_000260.4(MYO7A):c.4713G>A (p.Thr1571=)
|
rs568414079
|
0.00001
|
|
NM_000260.4(MYO7A):c.484G>A (p.Ala162Thr)
|
rs111033485
|
0.00001
|
|
NM_000260.4(MYO7A):c.487G>A (p.Gly163Arg)
|
rs1472566324
|
0.00001
|
|
NM_000260.4(MYO7A):c.494C>T (p.Thr165Met)
|
rs111033174
|
0.00001
|
|
NM_000260.4(MYO7A):c.4978G>A (p.Gly1660Arg)
|
rs771889662
|
0.00001
|
|
NM_000260.4(MYO7A):c.5006T>C (p.Val1669Ala)
|
rs369056903
|
0.00001
|
|
NM_000260.4(MYO7A):c.5011C>A (p.Pro1671Thr)
|
rs750926300
|
0.00001
|
|
NM_000260.4(MYO7A):c.5029C>T (p.Pro1677Ser)
|
rs535102352
|
0.00001
|
|
NM_000260.4(MYO7A):c.5102G>A (p.Arg1701Gln)
|
rs544043266
|
0.00001
|
|
NM_000260.4(MYO7A):c.5122C>T (p.Arg1708Cys)
|
rs529974676
|
0.00001
|
|
NM_000260.4(MYO7A):c.5138C>T (p.Thr1713Met)
|
rs751716334
|
0.00001
|
|
NM_000260.4(MYO7A):c.5146G>T (p.Glu1716Ter)
|
rs1236207116
|
0.00001
|
|
NM_000260.4(MYO7A):c.5179A>C (p.Lys1727Gln)
|
rs1187644045
|
0.00001
|
|
NM_000260.4(MYO7A):c.5228G>A (p.Arg1743Gln)
|
rs778250602
|
0.00001
|
|
NM_000260.4(MYO7A):c.5245C>T (p.Arg1749Trp)
|
rs757984734
|
0.00001
|
|
NM_000260.4(MYO7A):c.5378A>G (p.Asn1793Ser)
|
rs745704600
|
0.00001
|
|
NM_000260.4(MYO7A):c.5528T>G (p.Leu1843Arg)
|
rs397516319
|
0.00001
|
|
NM_000260.4(MYO7A):c.5566C>T (p.Arg1856Cys)
|
rs748052241
|
0.00001
|
|
NM_000260.4(MYO7A):c.5573T>C (p.Leu1858Pro)
|
rs368657015
|
0.00001
|
|
NM_000260.4(MYO7A):c.5581C>T (p.Arg1861Ter)
|
rs878864531
|
0.00001
|
|
NM_000260.4(MYO7A):c.5617C>T (p.Arg1873Trp)
|
rs397516321
|
0.00001
|
|
NM_000260.4(MYO7A):c.5641G>A (p.Gly1881Arg)
|
rs373886432
|
0.00001
|
|
NM_000260.4(MYO7A):c.5752G>A (p.Val1918Met)
|
rs958153438
|
0.00001
|
|
NM_000260.4(MYO7A):c.5782T>C (p.Cys1928Arg)
|
rs774755172
|
0.00001
|
|
NM_000260.4(MYO7A):c.5928T>G (p.Ala1976=)
|
rs375155751
|
0.00001
|
|
NM_000260.4(MYO7A):c.5930G>A (p.Arg1977Gln)
|
rs762420918
|
0.00001
|
|
NM_000260.4(MYO7A):c.5944G>A (p.Gly1982Arg)
|
rs761469964
|
0.00001
|
|
NM_000260.4(MYO7A):c.5950G>T (p.Val1984Leu)
|
rs377517717
|
0.00001
|
|
NM_000260.4(MYO7A):c.5969A>G (p.Gln1990Arg)
|
rs560293591
|
0.00001
|
|
NM_000260.4(MYO7A):c.6002C>T (p.Thr2001Met)
|
rs532542968
|
0.00001
|
|
NM_000260.4(MYO7A):c.6026C>A (p.Ala2009Asp)
|
rs1173853484
|
0.00001
|
|
NM_000260.4(MYO7A):c.6052-3C>T
|
rs368782885
|
0.00001
|
|
NM_000260.4(MYO7A):c.6089C>T (p.Thr2030Met)
|
rs768874284
|
0.00001
|
|
NM_000260.4(MYO7A):c.6122T>C (p.Ile2041Thr)
|
rs1289796183
|
0.00001
|
|
NM_000260.4(MYO7A):c.6145G>A (p.Asp2049Asn)
|
rs1336095094
|
0.00001
|
|
NM_000260.4(MYO7A):c.635G>A (p.Arg212His)
|
rs28934610
|
0.00001
|
|
NM_000260.4(MYO7A):c.6362C>T (p.Thr2121Met)
|
rs769205075
|
0.00001
|
|
NM_000260.4(MYO7A):c.6392T>C (p.Ile2131Thr)
|
rs1214326316
|
0.00001
|
|
NM_000260.4(MYO7A):c.640G>A (p.Gly214Arg)
|
rs111033283
|
0.00001
|
|
NM_000260.4(MYO7A):c.6441T>C (p.Asp2147=)
|
rs547153698
|
0.00001
|
|
NM_000260.4(MYO7A):c.6486C>T (p.Ser2162=)
|
rs778498696
|
0.00001
|
|
NM_000260.4(MYO7A):c.64G>T (p.Val22Leu)
|
rs376701580
|
0.00001
|
|
NM_000260.4(MYO7A):c.6520T>C (p.Leu2174=)
|
rs377251326
|
0.00001
|
|
NM_000260.4(MYO7A):c.6570G>A (p.Met2190Ile)
|
rs376900309
|
0.00001
|
|
NM_000260.4(MYO7A):c.6622C>T (p.Gln2208Ter)
|
rs747095250
|
0.00001
|
|
NM_000260.4(MYO7A):c.759C>T (p.His253=)
|
rs182220009
|
0.00001
|
|
NM_000260.4(MYO7A):c.875G>A (p.Arg292Gln)
|
rs535205981
|
0.00001
|
|
NM_000260.4(MYO7A):c.910G>A (p.Ala304Thr)
|
rs782124327
|
0.00001
|
|
NM_000260.4(MYO7A):c.999T>G (p.Tyr333Ter)
|
rs111033285
|
0.00001
|
|
NM_000271.5(NPC1):c.1070C>T (p.Ser357Leu)
|
rs1555637232
|
0.00001
|
|
NM_000271.5(NPC1):c.1138C>T (p.Leu380Phe)
|
rs1435915496
|
0.00001
|
|
NM_000271.5(NPC1):c.1165C>T (p.Arg389Cys)
|
rs1053321823
|
0.00001
|
|
NM_000271.5(NPC1):c.1211G>A (p.Arg404Gln)
|
rs139751448
|
0.00001
|
|
NM_000271.5(NPC1):c.1356C>T (p.Asn452=)
|
rs758508630
|
0.00001
|
|
NM_000271.5(NPC1):c.1371T>C (p.Tyr457=)
|
rs779065920
|
0.00001
|
|
NM_000271.5(NPC1):c.1436G>A (p.Cys479Tyr)
|
rs1555636659
|
0.00001
|
|
NM_000271.5(NPC1):c.1990G>A (p.Val664Met)
|
rs376213990
|
0.00001
|
|
NM_000271.5(NPC1):c.2055T>C (p.Ile685=)
|
rs199856145
|
0.00001
|
|
NM_000271.5(NPC1):c.209A>G (p.Asn70Ser)
|
rs200291759
|
0.00001
|
|
NM_000271.5(NPC1):c.2196dup (p.Pro733fs)
|
rs398123284
|
0.00001
|
|
NM_000271.5(NPC1):c.2269G>A (p.Val757Met)
|
rs777156729
|
0.00001
|
|
NM_000271.5(NPC1):c.2292G>A (p.Ala764=)
|
rs772565983
|
0.00001
|
|
NM_000271.5(NPC1):c.2324A>C (p.Gln775Pro)
|
rs80358253
|
0.00001
|
|
NM_000271.5(NPC1):c.2508A>G (p.Pro836=)
|
rs1468600723
|
0.00001
|
|
NM_000271.5(NPC1):c.2596A>G (p.Met866Val)
|
rs771088243
|
0.00001
|
|
NM_000271.5(NPC1):c.2800C>T (p.Arg934Ter)
|
rs370721218
|
0.00001
|
|
NM_000271.5(NPC1):c.2819C>T (p.Ser940Leu)
|
rs143124972
|
0.00001
|
|
NM_000271.5(NPC1):c.2833G>A (p.Asp945Asn)
|
rs1428599096
|
0.00001
|
|
NM_000271.5(NPC1):c.2848G>A (p.Val950Met)
|
rs120074135
|
0.00001
|
|
NM_000271.5(NPC1):c.2849T>G (p.Val950Gly)
|
rs1057517978
|
0.00001
|
|
NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs)
|
rs756815030
|
0.00001
|
|
NM_000271.5(NPC1):c.3104C>T (p.Ala1035Val)
|
rs28942107
|
0.00001
|
|
NM_000271.5(NPC1):c.3107C>T (p.Thr1036Met)
|
rs28942104
|
0.00001
|
|
NM_000271.5(NPC1):c.3130G>A (p.Val1044Met)
|
rs767343173
|
0.00001
|
|
NM_000271.5(NPC1):c.3493G>A (p.Val1165Met)
|
rs748862167
|
0.00001
|
|
NM_000271.5(NPC1):c.3591+1G>A
|
rs786200877
|
0.00001
|
|
NM_000271.5(NPC1):c.410C>T (p.Thr137Met)
|
rs372947142
|
0.00001
|
|
NM_000271.5(NPC1):c.615C>T (p.Ile205=)
|
rs767452406
|
0.00001
|
|
NM_000271.5(NPC1):c.749A>C (p.Lys250Thr)
|
rs536360132
|
0.00001
|
|
NM_000271.5(NPC1):c.783G>A (p.Thr261=)
|
rs770731602
|
0.00001
|
|
NM_000271.5(NPC1):c.887G>A (p.Arg296Gln)
|
rs774386583
|
0.00001
|
|
NM_000277.3(PAH):c.1033G>T (p.Ala345Ser)
|
rs62516062
|
0.00001
|
|
NM_000277.3(PAH):c.1183G>C (p.Ala395Pro)
|
rs62516103
|
0.00001
|
|
NM_000277.3(PAH):c.1184C>G (p.Ala395Gly)
|
rs62508736
|
0.00001
|
|
NM_000277.3(PAH):c.1340C>A (p.Ala447Asp)
|
rs76542238
|
0.00001
|
|
NM_000277.3(PAH):c.169-13T>G
|
rs62507341
|
0.00001
|
|
NM_000277.3(PAH):c.198A>G (p.Glu66=)
|
rs117308669
|
0.00001
|
|
NM_000277.3(PAH):c.1A>G (p.Met1Val)
|
rs62514891
|
0.00001
|
|
NM_000277.3(PAH):c.212G>A (p.Arg71His)
|
rs62508695
|
0.00001
|
|
NM_000277.3(PAH):c.320A>G (p.His107Arg)
|
rs542645236
|
0.00001
|
|
NM_000277.3(PAH):c.424C>T (p.Leu142=)
|
rs375364629
|
0.00001
|
|
NM_000277.3(PAH):c.441+1G>A
|
rs62517166
|
0.00001
|
|
NM_000277.3(PAH):c.441+5G>T
|
rs62507321
|
0.00001
|
|
NM_000277.3(PAH):c.442G>A (p.Gly148Ser)
|
rs80297647
|
0.00001
|
|
NM_000277.3(PAH):c.511G>A (p.Gly171Arg)
|
rs199475613
|
0.00001
|
|
NM_000277.3(PAH):c.561G>A (p.Trp187Ter)
|
rs62507336
|
0.00001
|
|
NM_000277.3(PAH):c.611A>G (p.Tyr204Cys)
|
rs62514927
|
0.00001
|
|
NM_000277.3(PAH):c.612T>C (p.Tyr204=)
|
rs62514928
|
0.00001
|
|
NM_000277.3(PAH):c.653G>T (p.Gly218Val)
|
rs62514933
|
0.00001
|
|
NM_000277.3(PAH):c.673C>A (p.Pro225Thr)
|
rs199475589
|
0.00001
|
|
NM_000277.3(PAH):c.694C>T (p.Gln232Ter)
|
rs62507348
|
0.00001
|
|
NM_000277.3(PAH):c.728G>A (p.Arg243Gln)
|
rs62508588
|
0.00001
|
|
NM_000277.3(PAH):c.755G>A (p.Arg252Gln)
|
rs62644503
|
0.00001
|
|
NM_000277.3(PAH):c.781C>T (p.Arg261Ter)
|
rs5030850
|
0.00001
|
|
NM_000277.3(PAH):c.811C>T (p.His271Tyr)
|
rs62517164
|
0.00001
|
|
NM_000277.3(PAH):c.829T>G (p.Tyr277Asp)
|
rs78655458
|
0.00001
|
|
NM_000277.3(PAH):c.847A>T (p.Ile283Phe)
|
rs62517168
|
0.00001
|
|
NM_000277.3(PAH):c.889C>T (p.Arg297Cys)
|
rs62642945
|
0.00001
|
|
NM_000277.3(PAH):c.912+1G>A
|
rs62514956
|
0.00001
|
|
NM_000277.3(PAH):c.913-7A>G
|
rs62517165
|
0.00001
|
|
NM_000277.3(PAH):c.926C>T (p.Ala309Val)
|
rs62642935
|
0.00001
|
|
NM_000277.3(PAH):c.932T>C (p.Leu311Pro)
|
rs62642936
|
0.00001
|
|
NM_000277.3(PAH):c.968_970del (p.Thr323del)
|
rs199475618
|
0.00001
|
|
NM_000277.3(PAH):c.970-10T>C
|
rs1485782102
|
0.00001
|
|
NM_000287.4(PEX6):c.1027C>T (p.Arg343Trp)
|
rs977542433
|
0.00001
|
|
NM_000287.4(PEX6):c.1233+1G>A
|
rs763459576
|
0.00001
|
|
NM_000287.4(PEX6):c.1236G>A (p.Val412=)
|
rs1196012985
|
0.00001
|
|
NM_000287.4(PEX6):c.1287del (p.Trp430fs)
|
rs1258472160
|
0.00001
|
|
NM_000287.4(PEX6):c.1365A>G (p.Pro455=)
|
rs759402659
|
0.00001
|
|
NM_000287.4(PEX6):c.1417G>A (p.Gly473Ser)
|
rs774874010
|
0.00001
|
|
NM_000287.4(PEX6):c.1801C>T (p.Arg601Trp)
|
rs61753225
|
0.00001
|
|
NM_000287.4(PEX6):c.1931G>A (p.Arg644Gln)
|
rs746117128
|
0.00001
|
|
NM_000287.4(PEX6):c.202G>A (p.Gly68Ser)
|
rs752644254
|
0.00001
|
|
NM_000287.4(PEX6):c.2078C>A (p.Ala693Asp)
|
rs748535121
|
0.00001
|
|
NM_000287.4(PEX6):c.2108C>T (p.Ser703Phe)
|
rs1390565278
|
0.00001
|
|
NM_000287.4(PEX6):c.2142G>T (p.Lys714Asn)
|
rs371619603
|
0.00001
|
|
NM_000287.4(PEX6):c.2347G>A (p.Glu783Lys)
|
rs757161798
|
0.00001
|
|
NM_000287.4(PEX6):c.2359G>A (p.Glu787Lys)
|
rs202019439
|
0.00001
|
|
NM_000287.4(PEX6):c.2362+1G>A
|
rs1443107232
|
0.00001
|
|
NM_000287.4(PEX6):c.2441G>A (p.Arg814Gln)
|
rs757780839
|
0.00001
|
|
NM_000287.4(PEX6):c.2512A>G (p.Ser838Gly)
|
rs759682469
|
0.00001
|
|
NM_000287.4(PEX6):c.2585G>T (p.Gly862Val)
|
rs764227040
|
0.00001
|
|
NM_000287.4(PEX6):c.2626C>T (p.Arg876Trp)
|
rs267608246
|
0.00001
|
|
NM_000287.4(PEX6):c.2729C>T (p.Thr910Met)
|
rs762089817
|
0.00001
|
|
NM_000287.4(PEX6):c.407C>A (p.Pro136Gln)
|
rs376824422
|
0.00001
|
|
NM_000287.4(PEX6):c.410G>A (p.Arg137Gln)
|
rs1254025750
|
0.00001
|
|
NM_000287.4(PEX6):c.517del (p.Ser173fs)
|
rs61753212
|
0.00001
|
|
NM_000287.4(PEX6):c.686G>A (p.Arg229Lys)
|
rs1260446318
|
0.00001
|
|
NM_000287.4(PEX6):c.795C>G (p.Pro265=)
|
rs545106357
|
0.00001
|
|
NM_000287.4(PEX6):c.901A>G (p.Ile301Val)
|
rs578234477
|
0.00001
|
|
NM_000288.4(PEX7):c.130+1G>A
|
rs267608253
|
0.00001
|
|
NM_000288.4(PEX7):c.96G>A (p.Leu32=)
|
rs1397119638
|
0.00001
|
|
NM_000317.3(PTS):c.155A>G (p.Asn52Ser)
|
rs104894275
|
0.00001
|
|
NM_000317.3(PTS):c.200C>T (p.Thr67Met)
|
rs370340361
|
0.00001
|
|
NM_000317.3(PTS):c.228C>T (p.Leu76=)
|
rs772713545
|
0.00001
|
|
NM_000317.3(PTS):c.260C>T (p.Pro87Leu)
|
rs765406631
|
0.00001
|
|
NM_000317.3(PTS):c.286G>A (p.Asp96Asn)
|
rs104894280
|
0.00001
|
|
NM_000317.3(PTS):c.297C>A (p.Tyr99Ter)
|
rs145882709
|
0.00001
|
|
NM_000317.3(PTS):c.367C>T (p.Pro123Ser)
|
rs141163668
|
0.00001
|
|
NM_000317.3(PTS):c.95G>A (p.Ser32Asn)
|
rs374871539
|
0.00001
|
|
NM_000318.3(PEX2):c.129A>G (p.Gly43=)
|
rs779946897
|
0.00001
|
|
NM_000318.3(PEX2):c.23C>T (p.Ala8Val)
|
rs148428490
|
0.00001
|
|
NM_000318.3(PEX2):c.312C>G (p.Ile104Met)
|
rs1242924229
|
0.00001
|
|
NM_000318.3(PEX2):c.331A>G (p.Ile111Val)
|
rs774994658
|
0.00001
|
|
NM_000318.3(PEX2):c.373C>T (p.Arg125Ter)
|
rs61752124
|
0.00001
|
|
NM_000318.3(PEX2):c.461T>C (p.Phe154Ser)
|
rs755169713
|
0.00001
|
|
NM_000318.3(PEX2):c.466A>G (p.Ile156Val)
|
rs148972539
|
0.00001
|
|
NM_000318.3(PEX2):c.66A>C (p.Ala22=)
|
rs572094828
|
0.00001
|
|
NM_000318.3(PEX2):c.742G>A (p.Gly248Arg)
|
rs1277419329
|
0.00001
|
|
NM_000318.3(PEX2):c.76A>G (p.Asn26Asp)
|
rs977528373
|
0.00001
|
|
NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser)
|
rs61752909
|
0.00001
|
|
NM_000329.3(RPE65):c.1034A>G (p.Asn345Ser)
|
rs769440649
|
0.00001
|
|
NM_000329.3(RPE65):c.11+2T>G
|
rs778768116
|
0.00001
|
|
NM_000329.3(RPE65):c.1220T>C (p.Val407Ala)
|
rs62636297
|
0.00001
|
|
NM_000329.3(RPE65):c.124C>T (p.Leu42Phe)
|
rs750724065
|
0.00001
|
|
NM_000329.3(RPE65):c.1519G>T (p.Ala507Ser)
|
rs767931252
|
0.00001
|
|
NM_000329.3(RPE65):c.1533T>G (p.Ser511Arg)
|
rs190761343
|
0.00001
|
|
NM_000329.3(RPE65):c.1597T>A (p.Ser533Thr)
|
rs577335767
|
0.00001
|
|
NM_000329.3(RPE65):c.375A>G (p.Gly125=)
|
rs992113946
|
0.00001
|
|
NM_000329.3(RPE65):c.382G>T (p.Val128Phe)
|
rs375611153
|
0.00001
|
|
NM_000329.3(RPE65):c.417G>A (p.Val139=)
|
rs536073181
|
0.00001
|
|
NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr)
|
rs61752883
|
0.00001
|
|
NM_000329.3(RPE65):c.700C>T (p.Arg234Ter)
|
rs61752895
|
0.00001
|
|
NM_000329.3(RPE65):c.743A>G (p.Asn248Ser)
|
rs758264644
|
0.00001
|
|
NM_000329.3(RPE65):c.744C>A (p.Asn248Lys)
|
rs1343005273
|
0.00001
|
|
NM_000329.3(RPE65):c.783G>T (p.Leu261=)
|
rs188493184
|
0.00001
|
|
NM_000329.3(RPE65):c.7A>G (p.Ile3Val)
|
rs777461552
|
0.00001
|
|
NM_000329.3(RPE65):c.874G>A (p.Ala292Thr)
|
rs377762154
|
0.00001
|
|
NM_000329.3(RPE65):c.886A>C (p.Arg296=)
|
rs1399365841
|
0.00001
|
|
NM_000329.3(RPE65):c.95-2A>T
|
rs61751279
|
0.00001
|
|
NM_000329.3(RPE65):c.953A>G (p.Tyr318Cys)
|
rs761284021
|
0.00001
|
|
NM_000329.3(RPE65):c.975T>G (p.Ile325Met)
|
rs761227832
|
0.00001
|
|
NM_000360.4(TH):c.1076C>T (p.Ser359Leu)
|
rs765379626
|
0.00001
|
|
NM_000360.4(TH):c.1077G>A (p.Ser359=)
|
rs759797905
|
0.00001
|
|
NM_000360.4(TH):c.1103C>T (p.Thr368Met)
|
rs1057520384
|
0.00001
|
|
NM_000360.4(TH):c.1128C>T (p.Phe376=)
|
rs769329337
|
0.00001
|
|
NM_000360.4(TH):c.1233C>T (p.Ala411=)
|
rs768695630
|
0.00001
|
|
NM_000360.4(TH):c.1250C>T (p.Ala417Val)
|
rs756236294
|
0.00001
|
|
NM_000360.4(TH):c.1290C>T (p.Val430=)
|
rs367962981
|
0.00001
|
|
NM_000360.4(TH):c.1301C>G (p.Ser434Cys)
|
rs767211543
|
0.00001
|
|
NM_000360.4(TH):c.1334+9G>A
|
rs758713265
|
0.00001
|
|
NM_000360.4(TH):c.1361C>A (p.Pro454His)
|
rs776457245
|
0.00001
|
|
NM_000360.4(TH):c.1430G>A (p.Arg477His)
|
rs78426052
|
0.00001
|
|
NM_000360.4(TH):c.193G>A (p.Gly65Arg)
|
rs780478399
|
0.00001
|
|
NM_000360.4(TH):c.195G>A (p.Gly65=)
|
rs145628270
|
0.00001
|
|
NM_000360.4(TH):c.38G>C (p.Gly13Ala)
|
rs1225376055
|
0.00001
|
|
NM_000360.4(TH):c.43C>T (p.Arg15Cys)
|
rs573547573
|
0.00001
|
|
NM_000360.4(TH):c.474C>T (p.Pro158=)
|
rs531554933
|
0.00001
|
|
NM_000360.4(TH):c.477G>A (p.Ala159=)
|
rs1217513263
|
0.00001
|
|
NM_000360.4(TH):c.517C>A (p.Leu173Met)
|
rs1468608879
|
0.00001
|
|
NM_000360.4(TH):c.562G>C (p.Asp188His)
|
rs757849221
|
0.00001
|
|
NM_000360.4(TH):c.565T>G (p.Leu189Val)
|
rs751996815
|
0.00001
|
|
NM_000360.4(TH):c.576+10G>A
|
rs775488025
|
0.00001
|
|
NM_000360.4(TH):c.582C>A (p.Phe194Leu)
|
rs555133070
|
0.00001
|
|
NM_000360.4(TH):c.584C>T (p.Ser195Leu)
|
rs372409517
|
0.00001
|
|
NM_000360.4(TH):c.5C>T (p.Pro2Leu)
|
rs139474171
|
0.00001
|
|
NM_000360.4(TH):c.604C>T (p.Arg202Cys)
|
rs1021029193
|
0.00001
|
|
NM_000360.4(TH):c.614T>C (p.Leu205Pro)
|
rs121917763
|
0.00001
|
|
NM_000360.4(TH):c.644+10C>T
|
rs760886341
|
0.00001
|
|
NM_000360.4(TH):c.646G>A (p.Gly216Ser)
|
rs762304556
|
0.00001
|
|
NM_000360.4(TH):c.648C>T (p.Gly216=)
|
rs774810612
|
0.00001
|
|
NM_000360.4(TH):c.769T>C (p.Leu257=)
|
rs138787428
|
0.00001
|
|
NM_000360.4(TH):c.96G>A (p.Pro32=)
|
rs202167640
|
0.00001
|
|
NM_000360.4(TH):c.977+9G>C
|
rs752199740
|
0.00001
|
|
NM_000370.3(TTPA):c.117C>T (p.Gly39=)
|
rs750576019
|
0.00001
|
|
NM_000370.3(TTPA):c.205-1G>C
|
rs886040963
|
0.00001
|
|
NM_000370.3(TTPA):c.272G>C (p.Ser91Thr)
|
rs186021365
|
0.00001
|
|
NM_000370.3(TTPA):c.381T>C (p.Phe127=)
|
rs768075601
|
0.00001
|
|
NM_000370.3(TTPA):c.401G>A (p.Arg134Gln)
|
rs748038814
|
0.00001
|
|
NM_000370.3(TTPA):c.471C>A (p.Ile157=)
|
rs572263038
|
0.00001
|
|
NM_000370.3(TTPA):c.752C>T (p.Ser251Phe)
|
rs756313678
|
0.00001
|
|
NM_000382.3(ALDH3A2):c.1032T>C (p.Asn344=)
|
rs1220711241
|
0.00001
|
|
NM_000382.3(ALDH3A2):c.114G>A (p.Glu38=)
|
rs919836950
|
0.00001
|
|
NM_000382.3(ALDH3A2):c.1157A>G (p.Asn386Ser)
|
rs72547575
|
0.00001
|
|
NM_000382.3(ALDH3A2):c.798+1_798+6del
|
rs1057517352
|
0.00001
|
|
NM_000382.3(ALDH3A2):c.832G>A (p.Asp278Asn)
|
rs934749419
|
0.00001
|
|
NM_000382.3(ALDH3A2):c.919G>A (p.Asp307Asn)
|
rs745558212
|
0.00001
|
|
NM_000441.2(SLC26A4):c.1050G>A (p.Leu350=)
|
rs727504993
|
0.00001
|
|
NM_000441.2(SLC26A4):c.1054G>A (p.Ala352Thr)
|
rs397516412
|
0.00001
|
|
NM_000441.2(SLC26A4):c.1079C>T (p.Ala360Val)
|
rs786204474
|
0.00001
|
|
NM_000441.2(SLC26A4):c.1257G>A (p.Lys419=)
|
rs747564818
|
0.00001
|
|
NM_000441.2(SLC26A4):c.1336C>T (p.Gln446Ter)
|
rs397516416
|
0.00001
|
|
NM_000441.2(SLC26A4):c.135G>T (p.Thr45=)
|
rs756029600
|
0.00001
|
|
NM_000441.2(SLC26A4):c.1511T>C (p.Phe504Ser)
|
rs1298350213
|
0.00001
|
|
NM_000441.2(SLC26A4):c.1614+1G>A
|
rs111033312
|
0.00001
|
|
NM_000441.2(SLC26A4):c.1615-2A>G
|
rs758823761
|
0.00001
|
|
NM_000441.2(SLC26A4):c.1694G>A (p.Cys565Tyr)
|
rs111033257
|
0.00001
|
|
NM_000441.2(SLC26A4):c.1696A>G (p.Ile566Val)
|
rs1300878615
|
0.00001
|
|
NM_000441.2(SLC26A4):c.1707+5G>A
|
rs192366176
|
0.00001
|
|
NM_000441.2(SLC26A4):c.170C>A (p.Ser57Ter)
|
rs111033200
|
0.00001
|
|
NM_000441.2(SLC26A4):c.1766A>C (p.Gln589Pro)
|
rs397516422
|
0.00001
|
|
NM_000441.2(SLC26A4):c.187G>A (p.Gly63Ser)
|
rs997848557
|
0.00001
|
|
NM_000441.2(SLC26A4):c.1909C>A (p.Gln637Lys)
|
rs375645779
|
0.00001
|
|
NM_000441.2(SLC26A4):c.2003T>C (p.Leu668Pro)
|
rs727504303
|
0.00001
|
|
NM_000441.2(SLC26A4):c.2070G>A (p.Val690=)
|
rs374686650
|
0.00001
|
|
NM_000441.2(SLC26A4):c.2086C>T (p.Gln696Ter)
|
rs752807925
|
0.00001
|
|
NM_000441.2(SLC26A4):c.2185C>T (p.Leu729=)
|
rs758851434
|
0.00001
|
|
NM_000441.2(SLC26A4):c.2186T>C (p.Leu729Pro)
|
rs1045933779
|
0.00001
|
|
NM_000441.2(SLC26A4):c.2228T>C (p.Leu743Ser)
|
rs1057517303
|
0.00001
|
|
NM_000441.2(SLC26A4):c.406A>G (p.Ile136Val)
|
rs759268252
|
0.00001
|
|
NM_000441.2(SLC26A4):c.510A>G (p.Val170=)
|
rs1012979539
|
0.00001
|
|
NM_000441.2(SLC26A4):c.545A>T (p.Asp182Val)
|
rs111033365
|
0.00001
|
|
NM_000441.2(SLC26A4):c.845G>A (p.Cys282Tyr)
|
rs111033454
|
0.00001
|
|
NM_000441.2(SLC26A4):c.84C>A (p.Ser28Arg)
|
rs539699299
|
0.00001
|
|
NM_000441.2(SLC26A4):c.886A>G (p.Ile296Val)
|
rs761613436
|
0.00001
|
|
NM_000441.2(SLC26A4):c.916dup (p.Val306fs)
|
rs768245266
|
0.00001
|
|
NM_000441.2(SLC26A4):c.918+2T>C
|
rs912147281
|
0.00001
|
|
NM_000466.3(PEX1):c.1277T>C (p.Met426Thr)
|
rs780611674
|
0.00001
|
|
NM_000466.3(PEX1):c.1285G>A (p.Val429Ile)
|
rs780349018
|
0.00001
|
|
NM_000466.3(PEX1):c.1324C>T (p.Pro442Ser)
|
rs560969584
|
0.00001
|
|
NM_000466.3(PEX1):c.1609A>G (p.Lys537Glu)
|
rs1378023176
|
0.00001
|
|
NM_000466.3(PEX1):c.1620C>G (p.Asn540Lys)
|
rs917874479
|
0.00001
|
|
NM_000466.3(PEX1):c.1690G>A (p.Val564Ile)
|
rs183965018
|
0.00001
|
|
NM_000466.3(PEX1):c.1750A>G (p.Met584Val)
|
rs758085238
|
0.00001
|
|
NM_000466.3(PEX1):c.1754C>T (p.Ser585Phe)
|
rs1792225580
|
0.00001
|
|
NM_000466.3(PEX1):c.1767A>T (p.Gly589=)
|
rs1364124177
|
0.00001
|
|
NM_000466.3(PEX1):c.1772G>A (p.Arg591Lys)
|
rs754337792
|
0.00001
|
|
NM_000466.3(PEX1):c.1810G>A (p.Gly604Arg)
|
rs148427398
|
0.00001
|
|
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro)
|
rs121434455
|
0.00001
|
|
NM_000466.3(PEX1):c.2138A>G (p.Gln713Arg)
|
rs1356967048
|
0.00001
|
|
NM_000466.3(PEX1):c.2278G>C (p.Asp760His)
|
rs757149759
|
0.00001
|
|
NM_000466.3(PEX1):c.2456G>A (p.Arg819His)
|
rs376273608
|
0.00001
|
|
NM_000466.3(PEX1):c.2554C>T (p.Leu852Phe)
|
rs202090176
|
0.00001
|
|
NM_000466.3(PEX1):c.2614C>T (p.Arg872Ter)
|
rs61750422
|
0.00001
|
|
NM_000466.3(PEX1):c.263A>T (p.Asn88Ile)
|
rs763218526
|
0.00001
|
|
NM_000466.3(PEX1):c.2707A>G (p.Ile903Val)
|
rs1009218596
|
0.00001
|
|
NM_000466.3(PEX1):c.2743A>T (p.Ile915Phe)
|
rs376029287
|
0.00001
|
|
NM_000466.3(PEX1):c.2783+4G>A
|
rs751416309
|
0.00001
|
|
NM_000466.3(PEX1):c.2833A>G (p.Ile945Val)
|
rs753349772
|
0.00001
|
|
NM_000466.3(PEX1):c.2845C>T (p.Arg949Trp)
|
rs866184460
|
0.00001
|
|
NM_000466.3(PEX1):c.2853T>C (p.His951=)
|
rs768094112
|
0.00001
|
|
NM_000466.3(PEX1):c.2926+4A>G
|
rs749060853
|
0.00001
|
|
NM_000466.3(PEX1):c.2942C>T (p.Ala981Val)
|
rs780843399
|
0.00001
|
|
NM_000466.3(PEX1):c.2993G>A (p.Arg998Gln)
|
rs61750429
|
0.00001
|
|
NM_000466.3(PEX1):c.3151C>A (p.Leu1051Ile)
|
rs138992611
|
0.00001
|
|
NM_000466.3(PEX1):c.3166T>C (p.Leu1056=)
|
rs1009877821
|
0.00001
|
|
NM_000466.3(PEX1):c.3195G>A (p.Ser1065=)
|
rs768417678
|
0.00001
|
|
NM_000466.3(PEX1):c.3208-1G>A
|
rs1057517518
|
0.00001
|
|
NM_000466.3(PEX1):c.3208-3T>C
|
rs763767937
|
0.00001
|
|
NM_000466.3(PEX1):c.3304T>C (p.Cys1102Arg)
|
rs752475812
|
0.00001
|
|
NM_000466.3(PEX1):c.3510G>A (p.Leu1170=)
|
rs368014758
|
0.00001
|
|
NM_000466.3(PEX1):c.3633T>C (p.Ser1211=)
|
rs753334806
|
0.00001
|
|
NM_000466.3(PEX1):c.3692A>G (p.Gln1231Arg)
|
rs766682184
|
0.00001
|
|
NM_000466.3(PEX1):c.3823C>T (p.Arg1275Ter)
|
rs755549316
|
0.00001
|
|
NM_000466.3(PEX1):c.3839T>A (p.Val1280Glu)
|
rs765142376
|
0.00001
|
|
NM_000466.3(PEX1):c.440T>C (p.Val147Ala)
|
rs750928084
|
0.00001
|
|
NM_000466.3(PEX1):c.541A>C (p.Thr181Pro)
|
rs775093154
|
0.00001
|
|
NM_000466.3(PEX1):c.5G>A (p.Trp2Ter)
|
rs762679408
|
0.00001
|
|
NM_000466.3(PEX1):c.688G>A (p.Glu230Lys)
|
rs781371997
|
0.00001
|
|
NM_000466.3(PEX1):c.693C>T (p.Asn231=)
|
rs1463386429
|
0.00001
|
|
NM_000466.3(PEX1):c.706_720del (p.Pro236_Ser240del)
|
rs754890130
|
0.00001
|
|
NM_000466.3(PEX1):c.803C>G (p.Thr268Ser)
|
rs780119112
|
0.00001
|
|
NM_000466.3(PEX1):c.830A>G (p.Gln277Arg)
|
rs886062506
|
0.00001
|
|
NM_000466.3(PEX1):c.831G>A (p.Gln277=)
|
rs1210178752
|
0.00001
|
|
NM_000466.3(PEX1):c.894T>C (p.Tyr298=)
|
rs1792856461
|
0.00001
|
|
NM_000492.4(CFTR):c.1039C>T (p.Arg347Cys)
|
rs397508147
|
0.00001
|
|
NM_000492.4(CFTR):c.1209+7A>T
|
rs767301152
|
0.00001
|
|
NM_000492.4(CFTR):c.1310G>A (p.Gly437Asp)
|
rs765791986
|
0.00001
|
|
NM_000492.4(CFTR):c.1343T>C (p.Ile448Thr)
|
rs748642635
|
0.00001
|
|
NM_000492.4(CFTR):c.1430C>A (p.Pro477His)
|
rs886044297
|
0.00001
|
|
NM_000492.4(CFTR):c.1475C>T (p.Ser492Phe)
|
rs121909017
|
0.00001
|
|
NM_000492.4(CFTR):c.1505T>C (p.Ile502Thr)
|
rs397508222
|
0.00001
|
|
NM_000492.4(CFTR):c.1587C>T (p.Asp529=)
|
rs772895745
|
0.00001
|
|
NM_000492.4(CFTR):c.164+12T>C
|
rs121908790
|
0.00001
|
|
NM_000492.4(CFTR):c.1687T>A (p.Tyr563Asn)
|
rs121909006
|
0.00001
|
|
NM_000492.4(CFTR):c.1724T>A (p.Phe575Tyr)
|
rs773569201
|
0.00001
|
|
NM_000492.4(CFTR):c.2251C>T (p.Arg751Cys)
|
rs772661780
|
0.00001
|
|
NM_000492.4(CFTR):c.2323C>T (p.His775Tyr)
|
rs748045283
|
0.00001
|
|
NM_000492.4(CFTR):c.2387T>C (p.Leu796Pro)
|
rs1291965190
|
0.00001
|
|
NM_000492.4(CFTR):c.2460A>T (p.Ile820=)
|
rs369664216
|
0.00001
|
|
NM_000492.4(CFTR):c.2505T>C (p.Asp835=)
|
rs761043298
|
0.00001
|
|
NM_000492.4(CFTR):c.2743G>C (p.Val915Leu)
|
rs770502501
|
0.00001
|
|
NM_000492.4(CFTR):c.2835G>A (p.Ser945=)
|
rs193922513
|
0.00001
|
|
NM_000492.4(CFTR):c.2946T>G (p.Ile982Met)
|
rs748430234
|
0.00001
|
|
NM_000492.4(CFTR):c.3139+3A>G
|
rs950336425
|
0.00001
|
|
NM_000492.4(CFTR):c.3160C>T (p.His1054Tyr)
|
rs397508510
|
0.00001
|
|
NM_000492.4(CFTR):c.3238A>C (p.Lys1080Gln)
|
rs766126240
|
0.00001
|
|
NM_000492.4(CFTR):c.3267G>C (p.Trp1089Cys)
|
rs150020260
|
0.00001
|
|
NM_000492.4(CFTR):c.3350T>C (p.Ile1117Thr)
|
rs751853765
|
0.00001
|
|
NM_000492.4(CFTR):c.3588A>T (p.Ser1196=)
|
rs759202870
|
0.00001
|
|
NM_000492.4(CFTR):c.3717G>A (p.Arg1239=)
|
rs144781064
|
0.00001
|
|
NM_000492.4(CFTR):c.377G>A (p.Gly126Asp)
|
rs397508609
|
0.00001
|
|
NM_000492.4(CFTR):c.416A>C (p.His139Pro)
|
rs76371115
|
0.00001
|
|
NM_000492.4(CFTR):c.4193T>G (p.Ile1398Ser)
|
rs397508692
|
0.00001
|
|
NM_000492.4(CFTR):c.4312C>T (p.Arg1438Trp)
|
rs397508711
|
0.00001
|
|
NM_000492.4(CFTR):c.4367G>A (p.Ser1456Asn)
|
rs983279303
|
0.00001
|
|
NM_000492.4(CFTR):c.514C>A (p.Leu172Ile)
|
rs769606990
|
0.00001
|
|
NM_000492.4(CFTR):c.773G>T (p.Arg258Ile)
|
rs377514639
|
0.00001
|
|
NM_000492.4(CFTR):c.859A>T (p.Asn287Tyr)
|
rs397508804
|
0.00001
|
|
NM_000492.4(CFTR):c.869+5G>A
|
rs533959068
|
0.00001
|
|
NM_000492.4(CFTR):c.94C>A (p.Leu32Met)
|
rs776797377
|
0.00001
|
|
NM_000492.4(CFTR):c.960A>T (p.Leu320Phe)
|
rs56093012
|
0.00001
|
|
NM_000525.4(KCNJ11):c.101G>A (p.Arg34His)
|
rs141145502
|
0.00001
|
|
NM_000525.4(KCNJ11):c.1105C>T (p.Arg369Cys)
|
rs371275937
|
0.00001
|
|
NM_000525.4(KCNJ11):c.36C>T (p.Tyr12=)
|
rs104894236
|
0.00001
|
|
NM_000525.4(KCNJ11):c.463G>A (p.Val155Met)
|
rs587783668
|
0.00001
|
|
NM_000525.4(KCNJ11):c.561G>A (p.Ala187=)
|
rs1260020267
|
0.00001
|
|
NM_000525.4(KCNJ11):c.636C>T (p.Ser212=)
|
rs759487287
|
0.00001
|
|
NM_000525.4(KCNJ11):c.684C>T (p.Gly228=)
|
rs746308356
|
0.00001
|
|
NM_000525.4(KCNJ11):c.79C>T (p.Arg27Cys)
|
rs752507753
|
0.00001
|
|
NM_000525.4(KCNJ11):c.819C>T (p.Ser273=)
|
rs202238153
|
0.00001
|
|
NM_000525.4(KCNJ11):c.874G>A (p.Glu292Lys)
|
rs1174593640
|
0.00001
|
|
NM_000543.5(SMPD1):c.1058C>T (p.Pro353Leu)
|
rs772473982
|
0.00001
|
|
NM_000543.5(SMPD1):c.1252C>T (p.Arg418Ter)
|
rs755160837
|
0.00001
|
|
NM_000543.5(SMPD1):c.1267C>T (p.His423Tyr)
|
rs120074126
|
0.00001
|
|
NM_000543.5(SMPD1):c.126G>A (p.Ala42=)
|
rs571806745
|
0.00001
|
|
NM_000543.5(SMPD1):c.1280A>G (p.His427Arg)
|
rs794727629
|
0.00001
|
|
NM_000543.5(SMPD1):c.1343A>G (p.Tyr448Cys)
|
rs747143343
|
0.00001
|
|
NM_000543.5(SMPD1):c.1360G>A (p.Ala454Thr)
|
rs144624998
|
0.00001
|
|
NM_000543.5(SMPD1):c.1427G>A (p.Arg476Gln)
|
rs763566905
|
0.00001
|
|
NM_000543.5(SMPD1):c.1473C>T (p.Ile491=)
|
rs554647710
|
0.00001
|
|
NM_000543.5(SMPD1):c.1660G>A (p.Ala554Thr)
|
rs758811926
|
0.00001
|
|
NM_000543.5(SMPD1):c.1675_1676del (p.Val559fs)
|
rs759389193
|
0.00001
|
|
NM_000543.5(SMPD1):c.1805G>A (p.Arg602His)
|
rs370129081
|
0.00001
|
|
NM_000543.5(SMPD1):c.305A>G (p.Asn102Ser)
|
rs373475928
|
0.00001
|
|
NM_000543.5(SMPD1):c.390T>G (p.Pro130=)
|
rs371141815
|
0.00001
|
|
NM_000543.5(SMPD1):c.573del (p.Ser192fs)
|
rs727504167
|
0.00001
|
|
NM_000543.5(SMPD1):c.688C>T (p.Arg230Cys)
|
rs989639224
|
0.00001
|
|
NM_000543.5(SMPD1):c.712G>A (p.Ala238Thr)
|
rs748936934
|
0.00001
|
|
NM_000543.5(SMPD1):c.748A>C (p.Ser250Arg)
|
rs750779804
|
0.00001
|
|
NM_000543.5(SMPD1):c.83C>T (p.Pro28Leu)
|
rs556155962
|
0.00001
|
|
NM_000543.5(SMPD1):c.880C>A (p.Gln294Lys)
|
rs120074128
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1059G>T (p.Lys353Asn)
|
rs372343607
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1195G>T (p.Val399Leu)
|
rs1453048118
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1213C>T (p.Arg405Trp)
|
rs573951598
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln)
|
rs121908099
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1309G>T (p.Ala437Ser)
|
rs1337764272
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp)
|
rs121908098
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1515G>A (p.Thr505=)
|
rs886656814
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1537C>T (p.Arg513Cys)
|
rs560108684
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1541T>C (p.Ile514Thr)
|
rs370013480
|
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.527A>G (p.Asp176Gly)
|
rs748325824
|
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.720C>T (p.Phe240=)
|
rs748075933
|
0.00001
|
|
NM_001017420.3(ESCO2):c.1131+1G>A
|
rs80359861
|
0.00001
|
|
NM_001017420.3(ESCO2):c.1593A>C (p.Ala531=)
|
rs1451610987
|
0.00001
|
|
NM_001017420.3(ESCO2):c.505C>T (p.Arg169Ter)
|
rs80359849
|
0.00001
|
|
NM_001017420.3(ESCO2):c.603A>G (p.Pro201=)
|
rs774506097
|
0.00001
|
|
NM_001017420.3(ESCO2):c.666G>A (p.Ser222=)
|
rs201608468
|
0.00001
|
|
NM_001017420.3(ESCO2):c.761C>T (p.Thr254Ile)
|
rs897825817
|
0.00001
|
|
NM_001017420.3(ESCO2):c.867A>G (p.Ser289=)
|
rs535236969
|
0.00001
|
|
NM_001017420.3(ESCO2):c.907A>C (p.Lys303Gln)
|
rs767444182
|
0.00001
|
|
NM_001039958.2(MESP2):c.196G>A (p.Ala66Thr)
|
rs1319032121
|
0.00001
|
|
NM_001039958.2(MESP2):c.669G>C (p.Pro223=)
|
rs760409825
|
0.00001
|
|
NM_001122769.3(LCA5):c.250C>T (p.Arg84Cys)
|
rs750430540
|
0.00001
|
|
NM_001122769.3(LCA5):c.439C>T (p.Leu147=)
|
rs141291555
|
0.00001
|
|
NM_001122769.3(LCA5):c.73T>C (p.Ser25Pro)
|
rs199902236
|
0.00001
|
|
NM_001127671.2(LIFR):c.1252C>T (p.Arg418Ter)
|
rs765622323
|
0.00001
|
|
NM_001127671.2(LIFR):c.1789C>T (p.Arg597Ter)
|
rs121912501
|
0.00001
|
|
NM_001127671.2(LIFR):c.3060G>A (p.Glu1020=)
|
rs537706381
|
0.00001
|
|
NM_001127671.2(LIFR):c.406C>G (p.Pro136Ala)
|
rs761024368
|
0.00001
|
|
NM_001127671.2(LIFR):c.819T>C (p.Ser273=)
|
rs756161883
|
0.00001
|
|
NM_001127671.2(LIFR):c.96A>G (p.Thr32=)
|
rs771905123
|
0.00001
|
|
NM_001130987.2(DYSF):c.1033+1G>A
|
rs201869739
|
0.00001
|
|
NM_001130987.2(DYSF):c.1061T>C (p.Leu354Pro)
|
rs768546511
|
0.00001
|
|
NM_001130987.2(DYSF):c.1134T>C (p.Pro378=)
|
rs571559303
|
0.00001
|
|
NM_001130987.2(DYSF):c.1229G>A (p.Gly410Glu)
|
rs746610724
|
0.00001
|
|
NM_001130987.2(DYSF):c.1286C>T (p.Ala429Val)
|
rs925623903
|
0.00001
|
|
NM_001130987.2(DYSF):c.1411A>G (p.Asn471Asp)
|
rs1131691788
|
0.00001
|
|
NM_001130987.2(DYSF):c.1499G>A (p.Arg500His)
|
rs775370021
|
0.00001
|
|
NM_001130987.2(DYSF):c.1519G>A (p.Val507Met)
|
rs761279290
|
0.00001
|
|
NM_001130987.2(DYSF):c.1544C>T (p.Ser515Leu)
|
rs139258703
|
0.00001
|
|
NM_001130987.2(DYSF):c.1639C>T (p.Pro547Ser)
|
rs559177313
|
0.00001
|
|
NM_001130987.2(DYSF):c.1666C>A (p.Pro556Thr)
|
rs749866053
|
0.00001
|
|
NM_001130987.2(DYSF):c.1693-6T>A
|
rs886039573
|
0.00001
|
|
NM_001130987.2(DYSF):c.1717C>T (p.Arg573Trp)
|
rs377735262
|
0.00001
|
|
NM_001130987.2(DYSF):c.1822C>T (p.Arg608Cys)
|
rs745472489
|
0.00001
|
|
NM_001130987.2(DYSF):c.1888C>T (p.Gln630Ter)
|
rs746873768
|
0.00001
|
|
NM_001130987.2(DYSF):c.1905C>T (p.Ile635=)
|
rs567956595
|
0.00001
|
|
NM_001130987.2(DYSF):c.1926C>T (p.Phe642=)
|
rs550180529
|
0.00001
|
|
NM_001130987.2(DYSF):c.1932G>A (p.Met644Ile)
|
rs1299723799
|
0.00001
|
|
NM_001130987.2(DYSF):c.2160G>A (p.Thr720=)
|
rs762651388
|
0.00001
|
|
NM_001130987.2(DYSF):c.2330A>G (p.Lys777Arg)
|
rs372475742
|
0.00001
|
|
NM_001130987.2(DYSF):c.2461C>T (p.Arg821Cys)
|
rs754179180
|
0.00001
|
|
NM_001130987.2(DYSF):c.2462G>A (p.Arg821His)
|
rs759675023
|
0.00001
|
|
NM_001130987.2(DYSF):c.246G>A (p.Leu82=)
|
rs756463088
|
0.00001
|
|
NM_001130987.2(DYSF):c.2570C>T (p.Pro857Leu)
|
rs759412160
|
0.00001
|
|
NM_001130987.2(DYSF):c.2643T>G (p.Asp881Glu)
|
rs146153109
|
0.00001
|
|
NM_001130987.2(DYSF):c.2697C>T (p.Thr899=)
|
rs750999022
|
0.00001
|
|
NM_001130987.2(DYSF):c.2707G>A (p.Glu903Lys)
|
rs770997582
|
0.00001
|
|
NM_001130987.2(DYSF):c.297C>T (p.Ser99=)
|
rs763710844
|
0.00001
|
|
NM_001130987.2(DYSF):c.3008A>G (p.Asp1003Gly)
|
rs1574058921
|
0.00001
|
|
NM_001130987.2(DYSF):c.3043G>A (p.Glu1015Lys)
|
rs755791637
|
0.00001
|
|
NM_001130987.2(DYSF):c.3051G>T (p.Trp1017Cys)
|
rs28937581
|
0.00001
|
|
NM_001130987.2(DYSF):c.3065A>G (p.Asn1022Ser)
|
rs772518246
|
0.00001
|
|
NM_001130987.2(DYSF):c.312C>G (p.Ala104=)
|
rs750834799
|
0.00001
|
|
NM_001130987.2(DYSF):c.315C>T (p.Pro105=)
|
rs1203731908
|
0.00001
|
|
NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln)
|
rs150877497
|
0.00001
|
|
NM_001130987.2(DYSF):c.3228+8A>C
|
rs749135257
|
0.00001
|
|
NM_001130987.2(DYSF):c.3317C>G (p.Ala1106Gly)
|
rs1486623448
|
0.00001
|
|
NM_001130987.2(DYSF):c.3322C>T (p.Arg1108Cys)
|
rs377079619
|
0.00001
|
|
NM_001130987.2(DYSF):c.3528G>A (p.Met1176Ile)
|
rs770648429
|
0.00001
|
|
NM_001130987.2(DYSF):c.3532C>T (p.Gln1178Ter)
|
rs886042091
|
0.00001
|
|
NM_001130987.2(DYSF):c.356del (p.Val119fs)
|
rs398123782
|
0.00001
|
|
NM_001130987.2(DYSF):c.3577C>T (p.Pro1193Ser)
|
rs916964397
|
0.00001
|
|
NM_001130987.2(DYSF):c.3659C>T (p.Thr1220Met)
|
rs1294912316
|
0.00001
|
|
NM_001130987.2(DYSF):c.3703G>T (p.Val1235Phe)
|
rs1392863221
|
0.00001
|
|
NM_001130987.2(DYSF):c.3747T>G (p.His1249Gln)
|
rs747606668
|
0.00001
|
|
NM_001130987.2(DYSF):c.3794C>T (p.Pro1265Leu)
|
rs539141161
|
0.00001
|
|
NM_001130987.2(DYSF):c.3805C>T (p.Arg1269Trp)
|
rs753817458
|
0.00001
|
|
NM_001130987.2(DYSF):c.3849G>C (p.Gln1283His)
|
rs774779883
|
0.00001
|
|
NM_001130987.2(DYSF):c.3898-4C>G
|
rs555206040
|
0.00001
|
|
NM_001130987.2(DYSF):c.3983C>T (p.Pro1328Leu)
|
rs1185353979
|
0.00001
|
|
NM_001130987.2(DYSF):c.4057G>A (p.Glu1353Lys)
|
rs758993965
|
0.00001
|
|
NM_001130987.2(DYSF):c.4060-7T>A
|
rs753614306
|
0.00001
|
|
NM_001130987.2(DYSF):c.4148C>T (p.Thr1383Met)
|
rs149182447
|
0.00001
|
|
NM_001130987.2(DYSF):c.4221+10A>G
|
rs1448201474
|
0.00001
|
|
NM_001130987.2(DYSF):c.4341G>A (p.Leu1447=)
|
rs144072850
|
0.00001
|
|
NM_001130987.2(DYSF):c.4356G>A (p.Ser1452=)
|
rs368451006
|
0.00001
|
|
NM_001130987.2(DYSF):c.4372C>T (p.Pro1458Ser)
|
rs151109021
|
0.00001
|
|
NM_001130987.2(DYSF):c.4455C>G (p.Ile1485Met)
|
rs758226677
|
0.00001
|
|
NM_001130987.2(DYSF):c.4540A>G (p.Ile1514Val)
|
rs767309227
|
0.00001
|
|
NM_001130987.2(DYSF):c.4570A>G (p.Ile1524Val)
|
rs779344280
|
0.00001
|
|
NM_001130987.2(DYSF):c.460+1G>A
|
rs1278864604
|
0.00001
|
|
NM_001130987.2(DYSF):c.4705G>A (p.Gly1569Ser)
|
rs1463145288
|
0.00001
|
|
NM_001130987.2(DYSF):c.4710G>A (p.Lys1570=)
|
rs775026383
|
0.00001
|
|
NM_001130987.2(DYSF):c.4847A>G (p.Glu1616Gly)
|
rs933715192
|
0.00001
|
|
NM_001130987.2(DYSF):c.4873C>T (p.Arg1625Ter)
|
rs398123789
|
0.00001
|
|
NM_001130987.2(DYSF):c.5052C>T (p.Ile1684=)
|
rs2094956948
|
0.00001
|
|
NM_001130987.2(DYSF):c.5056C>G (p.Leu1686Val)
|
rs886042492
|
0.00001
|
|
NM_001130987.2(DYSF):c.5110G>A (p.Asp1704Asn)
|
rs781415745
|
0.00001
|
|
NM_001130987.2(DYSF):c.5180G>C (p.Gly1727Ala)
|
rs146153532
|
0.00001
|
|
NM_001130987.2(DYSF):c.5235C>T (p.Cys1745=)
|
rs1573061003
|
0.00001
|
|
NM_001130987.2(DYSF):c.5236C>G (p.Gln1746Glu)
|
rs199827126
|
0.00001
|
|
NM_001130987.2(DYSF):c.5264A>T (p.Tyr1755Phe)
|
rs755108809
|
0.00001
|
|
NM_001130987.2(DYSF):c.5317+6C>G
|
rs1289453214
|
0.00001
|
|
NM_001130987.2(DYSF):c.5410G>A (p.Val1804Met)
|
rs773089790
|
0.00001
|
|
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp)
|
rs746243052
|
0.00001
|
|
NM_001130987.2(DYSF):c.5458-5C>T
|
rs780391061
|
0.00001
|
|
NM_001130987.2(DYSF):c.5483T>C (p.Leu1828Pro)
|
rs727503914
|
0.00001
|
|
NM_001130987.2(DYSF):c.5490G>A (p.Pro1830=)
|
rs759536240
|
0.00001
|
|
NM_001130987.2(DYSF):c.5528C>T (p.Thr1843Ile)
|
rs886056283
|
0.00001
|
|
NM_001130987.2(DYSF):c.5534G>A (p.Arg1845Gln)
|
rs533781748
|
0.00001
|
|
NM_001130987.2(DYSF):c.5591T>C (p.Leu1864Pro)
|
rs768704227
|
0.00001
|
|
NM_001130987.2(DYSF):c.5625C>T (p.Ser1875=)
|
rs577921112
|
0.00001
|
|
NM_001130987.2(DYSF):c.5626G>A (p.Asp1876Asn)
|
rs398123794
|
0.00001
|
|
NM_001130987.2(DYSF):c.5630T>C (p.Ile1877Thr)
|
rs191052325
|
0.00001
|
|
NM_001130987.2(DYSF):c.5689T>C (p.Tyr1897His)
|
rs777543798
|
0.00001
|
|
NM_001130987.2(DYSF):c.5698C>T (p.Leu1900=)
|
rs780923865
|
0.00001
|
|
NM_001130987.2(DYSF):c.5720A>G (p.Asn1907Ser)
|
rs543664648
|
0.00001
|
|
NM_001130987.2(DYSF):c.577G>A (p.Glu193Lys)
|
rs763104746
|
0.00001
|
|
NM_001130987.2(DYSF):c.5830C>T (p.Arg1944Ter)
|
rs121908959
|
0.00001
|
|
NM_001130987.2(DYSF):c.5932G>A (p.Ala1978Thr)
|
rs759198745
|
0.00001
|
|
NM_001130987.2(DYSF):c.5983T>G (p.Phe1995Val)
|
rs1189744662
|
0.00001
|
|
NM_001130987.2(DYSF):c.606G>A (p.Ala202=)
|
rs398123791
|
0.00001
|
|
NM_001130987.2(DYSF):c.6139G>A (p.Glu2047Lys)
|
rs886043489
|
0.00001
|
|
NM_001130987.2(DYSF):c.6222G>A (p.Met2074Ile)
|
rs557683788
|
0.00001
|
|
NM_001130987.2(DYSF):c.6255C>T (p.Ala2085=)
|
rs1308247360
|
0.00001
|
|
NM_001130987.2(DYSF):c.6264C>T (p.Leu2088=)
|
rs539234900
|
0.00001
|
|
NM_001130987.2(DYSF):c.6282C>T (p.Ile2094=)
|
rs561011151
|
0.00001
|
|
NM_001130987.2(DYSF):c.6294C>T (p.Phe2098=)
|
rs754852745
|
0.00001
|
|
NM_001130987.2(DYSF):c.6322-7C>T
|
rs749806665
|
0.00001
|
|
NM_001130987.2(DYSF):c.636G>A (p.Pro212=)
|
rs185711021
|
0.00001
|
|
NM_001130987.2(DYSF):c.665C>T (p.Pro222Leu)
|
rs756925596
|
0.00001
|
|
NM_001130987.2(DYSF):c.693G>A (p.Gly231=)
|
rs775544808
|
0.00001
|
|
NM_001130987.2(DYSF):c.851C>T (p.Thr284Met)
|
rs398123802
|
0.00001
|
|
NM_001130987.2(DYSF):c.884A>G (p.Asn295Ser)
|
rs777785781
|
0.00001
|
|
NM_001130987.2(DYSF):c.960C>T (p.Asp320=)
|
rs771325384
|
0.00001
|
|
NM_001130987.2(DYSF):c.964C>T (p.Arg322Cys)
|
rs1375948337
|
0.00001
|
|
NM_001130987.2(DYSF):c.965G>A (p.Arg322His)
|
rs1386290894
|
0.00001
|
|
NM_001134793.2(HYLS1):c.15A>C (p.Leu5=)
|
rs759153895
|
0.00001
|
|
NM_001134793.2(HYLS1):c.264A>G (p.Arg88=)
|
rs761511515
|
0.00001
|
|
NM_001134793.2(HYLS1):c.662G>A (p.Arg221Gln)
|
rs375332939
|
0.00001
|
|
NM_001134793.2(HYLS1):c.771T>C (p.His257=)
|
rs953498744
|
0.00001
|
|
NM_001134793.2(HYLS1):c.895T>C (p.Ser299Pro)
|
rs752716062
|
0.00001
|
|
NM_001164375.3(C10orf105):c.*3278G>A
|
rs776427467
|
0.00001
|
|
NM_001173990.3(TMEM216):c.11G>A (p.Arg4Gln)
|
rs548299486
|
0.00001
|
|
NM_001173990.3(TMEM216):c.324G>A (p.Leu108=)
|
rs528921796
|
0.00001
|
|
NM_001173990.3(TMEM216):c.343C>T (p.Arg115Cys)
|
rs774225426
|
0.00001
|
|
NM_001173990.3(TMEM216):c.359T>C (p.Met120Thr)
|
rs367737418
|
0.00001
|
|
NM_001173990.3(TMEM216):c.40C>T (p.Arg14Trp)
|
rs528271337
|
0.00001
|
|
NM_001378454.1(ALMS1):c.10004G>T (p.Gly3335Val)
|
rs1344858585
|
0.00001
|
|
NM_001378454.1(ALMS1):c.1006T>C (p.Cys336Arg)
|
rs746923506
|
0.00001
|
|
NM_001378454.1(ALMS1):c.10137A>G (p.Gln3379=)
|
rs756623131
|
0.00001
|
|
NM_001378454.1(ALMS1):c.10169C>T (p.Ala3390Val)
|
rs905527689
|
0.00001
|
|
NM_001378454.1(ALMS1):c.10318A>G (p.Arg3440Gly)
|
rs746702722
|
0.00001
|
|
NM_001378454.1(ALMS1):c.10338G>T (p.Glu3446Asp)
|
rs928444733
|
0.00001
|
|
NM_001378454.1(ALMS1):c.103G>C (p.Ala35Pro)
|
rs955371491
|
0.00001
|
|
NM_001378454.1(ALMS1):c.10420C>T (p.Arg3474Cys)
|
rs759337193
|
0.00001
|
|
NM_001378454.1(ALMS1):c.1051C>T (p.Arg351Ter)
|
rs1275113273
|
0.00001
|
|
NM_001378454.1(ALMS1):c.10573C>T (p.His3525Tyr)
|
rs778304579
|
0.00001
|
|
NM_001378454.1(ALMS1):c.10611G>A (p.Lys3537=)
|
rs1470146152
|
0.00001
|
|
NM_001378454.1(ALMS1):c.10625A>G (p.Tyr3542Cys)
|
rs761771973
|
0.00001
|
|
NM_001378454.1(ALMS1):c.10635A>G (p.Ile3545Met)
|
rs760321819
|
0.00001
|
|
NM_001378454.1(ALMS1):c.10822C>T (p.Arg3608Ter)
|
rs1192396248
|
0.00001
|
|
NM_001378454.1(ALMS1):c.10856A>G (p.Asp3619Gly)
|
rs779029779
|
0.00001
|
|
NM_001378454.1(ALMS1):c.10947T>C (p.Ser3649=)
|
rs373024720
|
0.00001
|
|
NM_001378454.1(ALMS1):c.10968G>C (p.Gly3656=)
|
rs1439789927
|
0.00001
|
|
NM_001378454.1(ALMS1):c.1096C>G (p.Gln366Glu)
|
rs887270267
|
0.00001
|
|
NM_001378454.1(ALMS1):c.11104C>A (p.Arg3702=)
|
rs747747269
|
0.00001
|
|
NM_001378454.1(ALMS1):c.11113_11131del (p.Arg3705fs)
|
rs398122992
|
0.00001
|
|
NM_001378454.1(ALMS1):c.11143A>G (p.Lys3715Glu)
|
rs765505349
|
0.00001
|
|
NM_001378454.1(ALMS1):c.11204C>T (p.Ser3735Leu)
|
rs367877017
|
0.00001
|
|
NM_001378454.1(ALMS1):c.11284G>A (p.Glu3762Lys)
|
rs1243181452
|
0.00001
|
|
NM_001378454.1(ALMS1):c.11393G>A (p.Arg3798Lys)
|
rs1006564458
|
0.00001
|
|
NM_001378454.1(ALMS1):c.11401T>A (p.Leu3801Met)
|
rs780494417
|
0.00001
|
|
NM_001378454.1(ALMS1):c.11446C>T (p.Gln3816Ter)
|
rs940576720
|
0.00001
|
|
NM_001378454.1(ALMS1):c.11467C>T (p.Arg3823Trp)
|
rs17848868
|
0.00001
|
|
NM_001378454.1(ALMS1):c.11477A>G (p.His3826Arg)
|
rs371105298
|
0.00001
|
|
NM_001378454.1(ALMS1):c.1154G>A (p.Ser385Asn)
|
rs767078704
|
0.00001
|
|
NM_001378454.1(ALMS1):c.11688C>T (p.Asn3896=)
|
rs202172921
|
0.00001
|
|
NM_001378454.1(ALMS1):c.11705C>G (p.Thr3902Ser)
|
rs369008610
|
0.00001
|
|
NM_001378454.1(ALMS1):c.11728C>G (p.Pro3910Ala)
|
rs761099182
|
0.00001
|
|
NM_001378454.1(ALMS1):c.11737A>C (p.Ser3913Arg)
|
rs776963509
|
0.00001
|
|
NM_001378454.1(ALMS1):c.11764A>G (p.Asn3922Asp)
|
rs45486496
|
0.00001
|
|
NM_001378454.1(ALMS1):c.1185G>A (p.Gly395=)
|
rs1450546722
|
0.00001
|
|
NM_001378454.1(ALMS1):c.12074G>A (p.Gly4025Asp)
|
rs199989044
|
0.00001
|
|
NM_001378454.1(ALMS1):c.12117A>C (p.Glu4039Asp)
|
rs1016477755
|
0.00001
|
|
NM_001378454.1(ALMS1):c.12164G>A (p.Arg4055Gln)
|
rs752714698
|
0.00001
|
|
NM_001378454.1(ALMS1):c.12216A>G (p.Leu4072=)
|
rs769083768
|
0.00001
|
|
NM_001378454.1(ALMS1):c.12256C>T (p.Arg4086Trp)
|
rs779618627
|
0.00001
|
|
NM_001378454.1(ALMS1):c.12282C>T (p.Cys4094=)
|
rs760968067
|
0.00001
|
|
NM_001378454.1(ALMS1):c.12298+5G>A
|
rs371853987
|
0.00001
|
|
NM_001378454.1(ALMS1):c.12425A>G (p.Tyr4142Cys)
|
rs775032572
|
0.00001
|
|
NM_001378454.1(ALMS1):c.1270A>G (p.Ile424Val)
|
rs775981299
|
0.00001
|
|
NM_001378454.1(ALMS1):c.1432+5G>A
|
rs755613962
|
0.00001
|
|
NM_001378454.1(ALMS1):c.1639C>G (p.Leu547Val)
|
rs1451493287
|
0.00001
|
|
NM_001378454.1(ALMS1):c.1732del (p.Arg578fs)
|
rs777476179
|
0.00001
|
|
NM_001378454.1(ALMS1):c.1855T>C (p.Ser619Pro)
|
rs921968387
|
0.00001
|
|
NM_001378454.1(ALMS1):c.1962A>G (p.Pro654=)
|
rs1572931748
|
0.00001
|
|
NM_001378454.1(ALMS1):c.200G>A (p.Ser67Asn)
|
rs776932244
|
0.00001
|
|
NM_001378454.1(ALMS1):c.2079G>C (p.Leu693=)
|
rs1320005523
|
0.00001
|
|
NM_001378454.1(ALMS1):c.2087C>A (p.Ser696Ter)
|
rs1490504758
|
0.00001
|
|
NM_001378454.1(ALMS1):c.2156G>A (p.Arg719Lys)
|
rs923816827
|
0.00001
|
|
NM_001378454.1(ALMS1):c.2184A>G (p.Gln728=)
|
rs572605877
|
0.00001
|
|
NM_001378454.1(ALMS1):c.2187G>A (p.Glu729=)
|
rs536950181
|
0.00001
|
|
NM_001378454.1(ALMS1):c.219C>G (p.Asp73Glu)
|
rs905373886
|
0.00001
|
|
NM_001378454.1(ALMS1):c.234C>T (p.Ala78=)
|
rs368947491
|
0.00001
|
|
NM_001378454.1(ALMS1):c.2517T>G (p.Ala839=)
|
rs765949316
|
0.00001
|
|
NM_001378454.1(ALMS1):c.2542A>G (p.Thr848Ala)
|
rs777811953
|
0.00001
|
|
NM_001378454.1(ALMS1):c.25C>T (p.Pro9Ser)
|
rs769538172
|
0.00001
|
|
NM_001378454.1(ALMS1):c.266C>T (p.Pro89Leu)
|
rs989191437
|
0.00001
|
|
NM_001378454.1(ALMS1):c.2683G>A (p.Asp895Asn)
|
rs756206965
|
0.00001
|
|
NM_001378454.1(ALMS1):c.2756A>C (p.Gln919Pro)
|
rs751883638
|
0.00001
|
|
NM_001378454.1(ALMS1):c.2819T>A (p.Leu940Ter)
|
rs539612316
|
0.00001
|
|
NM_001378454.1(ALMS1):c.2872A>T (p.Ser958Cys)
|
rs1259661145
|
0.00001
|
|
NM_001378454.1(ALMS1):c.3016dup (p.Arg1006fs)
|
rs878854998
|
0.00001
|
|
NM_001378454.1(ALMS1):c.3029G>A (p.Ser1010Asn)
|
rs1448665150
|
0.00001
|
|
NM_001378454.1(ALMS1):c.3062A>T (p.Tyr1021Phe)
|
rs574757598
|
0.00001
|
|
NM_001378454.1(ALMS1):c.323A>G (p.Lys108Arg)
|
rs1046964700
|
0.00001
|
|
NM_001378454.1(ALMS1):c.3246A>G (p.Pro1082=)
|
rs532389598
|
0.00001
|
|
NM_001378454.1(ALMS1):c.3310G>A (p.Gly1104Ser)
|
rs868703237
|
0.00001
|
|
NM_001378454.1(ALMS1):c.3407C>T (p.Thr1136Ile)
|
rs756805885
|
0.00001
|
|
NM_001378454.1(ALMS1):c.3582A>G (p.Gln1194=)
|
rs768478218
|
0.00001
|
|
NM_001378454.1(ALMS1):c.3764A>G (p.Asp1255Gly)
|
rs773586990
|
0.00001
|
|
NM_001378454.1(ALMS1):c.392C>A (p.Ser131Tyr)
|
rs756453260
|
0.00001
|
|
NM_001378454.1(ALMS1):c.4057C>A (p.Pro1353Thr)
|
rs1005994594
|
0.00001
|
|
NM_001378454.1(ALMS1):c.4163C>T (p.Pro1388Leu)
|
rs377354387
|
0.00001
|
|
NM_001378454.1(ALMS1):c.4181A>G (p.Gln1394Arg)
|
rs368955191
|
0.00001
|
|
NM_001378454.1(ALMS1):c.4360G>C (p.Glu1454Gln)
|
rs768816557
|
0.00001
|
|
NM_001378454.1(ALMS1):c.4370T>C (p.Val1457Ala)
|
rs1671922685
|
0.00001
|
|
NM_001378454.1(ALMS1):c.442G>A (p.Asp148Asn)
|
rs757606922
|
0.00001
|
|
NM_001378454.1(ALMS1):c.4450G>A (p.Val1484Ile)
|
rs779113815
|
0.00001
|
|
NM_001378454.1(ALMS1):c.4454T>C (p.Ile1485Thr)
|
rs564400636
|
0.00001
|
|
NM_001378454.1(ALMS1):c.4476G>T (p.Glu1492Asp)
|
rs745623990
|
0.00001
|
|
NM_001378454.1(ALMS1):c.4643T>C (p.Leu1548Pro)
|
rs745859143
|
0.00001
|
|
NM_001378454.1(ALMS1):c.4765C>A (p.His1589Asn)
|
rs771703863
|
0.00001
|
|
NM_001378454.1(ALMS1):c.4789G>A (p.Val1597Ile)
|
rs759914299
|
0.00001
|
|
NM_001378454.1(ALMS1):c.4985C>G (p.Ser1662Cys)
|
rs776002916
|
0.00001
|
|
NM_001378454.1(ALMS1):c.4995C>T (p.Tyr1665=)
|
rs762003836
|
0.00001
|
|
NM_001378454.1(ALMS1):c.5142T>G (p.Tyr1714Ter)
|
rs772136379
|
0.00001
|
|
NM_001378454.1(ALMS1):c.5147A>G (p.Glu1716Gly)
|
rs760638961
|
0.00001
|
|
NM_001378454.1(ALMS1):c.5172G>C (p.Gln1724His)
|
rs1402153419
|
0.00001
|
|
NM_001378454.1(ALMS1):c.518C>T (p.Thr173Ile)
|
rs1163075641
|
0.00001
|
|
NM_001378454.1(ALMS1):c.5282A>T (p.His1761Leu)
|
rs760251120
|
0.00001
|
|
NM_001378454.1(ALMS1):c.5343G>C (p.Glu1781Asp)
|
rs1671948778
|
0.00001
|
|
NM_001378454.1(ALMS1):c.5484G>T (p.Leu1828Phe)
|
rs376996058
|
0.00001
|
|
NM_001378454.1(ALMS1):c.5558A>G (p.Gln1853Arg)
|
rs574696548
|
0.00001
|
|
NM_001378454.1(ALMS1):c.5767G>C (p.Val1923Leu)
|
rs772665115
|
0.00001
|
|
NM_001378454.1(ALMS1):c.5887G>A (p.Glu1963Lys)
|
rs45484791
|
0.00001
|
|
NM_001378454.1(ALMS1):c.5891C>A (p.Ala1964Asp)
|
rs1196949061
|
0.00001
|
|
NM_001378454.1(ALMS1):c.5903C>G (p.Ser1968Ter)
|
rs1490127694
|
0.00001
|
|
NM_001378454.1(ALMS1):c.6020A>G (p.Gln2007Arg)
|
rs1047348249
|
0.00001
|
|
NM_001378454.1(ALMS1):c.6071A>C (p.Lys2024Thr)
|
rs369339997
|
0.00001
|
|
NM_001378454.1(ALMS1):c.6071A>G (p.Lys2024Arg)
|
rs369339997
|
0.00001
|
|
NM_001378454.1(ALMS1):c.6121C>G (p.Gln2041Glu)
|
rs780824087
|
0.00001
|
|
NM_001378454.1(ALMS1):c.6359A>G (p.Lys2120Arg)
|
rs745919138
|
0.00001
|
|
NM_001378454.1(ALMS1):c.646+8C>G
|
rs760012033
|
0.00001
|
|
NM_001378454.1(ALMS1):c.6506C>T (p.Ser2169Leu)
|
rs368833782
|
0.00001
|
|
NM_001378454.1(ALMS1):c.6563C>G (p.Thr2188Ser)
|
rs752016657
|
0.00001
|
|
NM_001378454.1(ALMS1):c.6639C>G (p.Asp2213Glu)
|
rs769322538
|
0.00001
|
|
NM_001378454.1(ALMS1):c.6776T>C (p.Leu2259Pro)
|
rs768229118
|
0.00001
|
|
NM_001378454.1(ALMS1):c.6790A>G (p.Thr2264Ala)
|
rs772620985
|
0.00001
|
|
NM_001378454.1(ALMS1):c.6827G>A (p.Arg2276Gln)
|
rs200979896
|
0.00001
|
|
NM_001378454.1(ALMS1):c.6838C>T (p.Pro2280Ser)
|
rs1273490920
|
0.00001
|
|
NM_001378454.1(ALMS1):c.6991T>C (p.Cys2331Arg)
|
rs1060500038
|
0.00001
|
|
NM_001378454.1(ALMS1):c.7005T>C (p.Asp2335=)
|
rs781592497
|
0.00001
|
|
NM_001378454.1(ALMS1):c.7089A>G (p.Leu2363=)
|
rs751020257
|
0.00001
|
|
NM_001378454.1(ALMS1):c.7217C>T (p.Pro2406Leu)
|
rs1481573722
|
0.00001
|
|
NM_001378454.1(ALMS1):c.7226C>G (p.Thr2409Ser)
|
rs866357733
|
0.00001
|
|
NM_001378454.1(ALMS1):c.7376G>C (p.Ser2459Thr)
|
rs778055498
|
0.00001
|
|
NM_001378454.1(ALMS1):c.7399G>T (p.Glu2467Ter)
|
rs1198051503
|
0.00001
|
|
NM_001378454.1(ALMS1):c.7404T>A (p.Ser2468Arg)
|
rs749127545
|
0.00001
|
|
NM_001378454.1(ALMS1):c.7433C>G (p.Ser2478Ter)
|
rs1303829798
|
0.00001
|
|
NM_001378454.1(ALMS1):c.7526G>A (p.Arg2509Gln)
|
rs551433143
|
0.00001
|
|
NM_001378454.1(ALMS1):c.7568A>G (p.His2523Arg)
|
rs763422515
|
0.00001
|
|
NM_001378454.1(ALMS1):c.7780C>T (p.His2594Tyr)
|
rs754585700
|
0.00001
|
|
NM_001378454.1(ALMS1):c.7883A>G (p.Asn2628Ser)
|
rs776280658
|
0.00001
|
|
NM_001378454.1(ALMS1):c.8096C>T (p.Ser2699Leu)
|
rs769405720
|
0.00001
|
|
NM_001378454.1(ALMS1):c.8111C>T (p.Ser2704Phe)
|
rs761272792
|
0.00001
|
|
NM_001378454.1(ALMS1):c.8239G>T (p.Val2747Leu)
|
rs878855002
|
0.00001
|
|
NM_001378454.1(ALMS1):c.8420A>C (p.Gln2807Pro)
|
rs768782274
|
0.00001
|
|
NM_001378454.1(ALMS1):c.8423A>G (p.Glu2808Gly)
|
rs1255060538
|
0.00001
|
|
NM_001378454.1(ALMS1):c.847G>C (p.Glu283Gln)
|
rs780066739
|
0.00001
|
|
NM_001378454.1(ALMS1):c.8483C>A (p.Ala2828Glu)
|
rs751296181
|
0.00001
|
|
NM_001378454.1(ALMS1):c.8560C>G (p.Leu2854Val)
|
rs765176591
|
0.00001
|
|
NM_001378454.1(ALMS1):c.8653C>T (p.Arg2885Ter)
|
rs776563011
|
0.00001
|
|
NM_001378454.1(ALMS1):c.8655A>G (p.Arg2885=)
|
rs377249623
|
0.00001
|
|
NM_001378454.1(ALMS1):c.8673C>A (p.Ser2891Arg)
|
rs755823751
|
0.00001
|
|
NM_001378454.1(ALMS1):c.8723C>T (p.Pro2908Leu)
|
rs537639125
|
0.00001
|
|
NM_001378454.1(ALMS1):c.873T>G (p.Ser291Arg)
|
rs747529881
|
0.00001
|
|
NM_001378454.1(ALMS1):c.8904A>G (p.Gln2968=)
|
rs777796888
|
0.00001
|
|
NM_001378454.1(ALMS1):c.8974G>T (p.Asp2992Tyr)
|
rs937731506
|
0.00001
|
|
NM_001378454.1(ALMS1):c.9029T>C (p.Ile3010Thr)
|
rs780894681
|
0.00001
|
|
NM_001378454.1(ALMS1):c.9161A>G (p.Lys3054Arg)
|
rs778324244
|
0.00001
|
|
NM_001378454.1(ALMS1):c.9382G>A (p.Val3128Ile)
|
rs764937531
|
0.00001
|
|
NM_001378454.1(ALMS1):c.9384A>G (p.Val3128=)
|
rs752453102
|
0.00001
|
|
NM_001378454.1(ALMS1):c.9509A>G (p.Asn3170Ser)
|
rs1396386580
|
0.00001
|
|
NM_001378454.1(ALMS1):c.9538C>G (p.Arg3180Gly)
|
rs563393715
|
0.00001
|
|
NM_001378454.1(ALMS1):c.9610A>G (p.Ile3204Val)
|
rs377600448
|
0.00001
|
|
NM_001378454.1(ALMS1):c.961G>A (p.Glu321Lys)
|
rs763730338
|
0.00001
|
|
NM_001378454.1(ALMS1):c.9631A>G (p.Lys3211Glu)
|
rs770987613
|
0.00001
|
|
NM_001378454.1(ALMS1):c.9652A>T (p.Ile3218Phe)
|
rs771768835
|
0.00001
|
|
NM_001378454.1(ALMS1):c.9702C>G (p.Asn3234Lys)
|
rs771376818
|
0.00001
|
|
NM_001378454.1(ALMS1):c.975G>A (p.Ser325=)
|
rs370267673
|
0.00001
|
|
NM_001378454.1(ALMS1):c.9760A>C (p.Thr3254Pro)
|
rs1553412796
|
0.00001
|
|
NM_001378454.1(ALMS1):c.9871T>C (p.Ser3291Pro)
|
rs759591871
|
0.00001
|
|
NM_001384140.1(PCDH15):c.1006C>T (p.Arg336Ter)
|
rs370261904
|
0.00001
|
|
NM_001384140.1(PCDH15):c.1007G>A (p.Arg336Gln)
|
rs370442031
|
0.00001
|
|
NM_001384140.1(PCDH15):c.1121C>T (p.Pro374Leu)
|
rs397517449
|
0.00001
|
|
NM_001384140.1(PCDH15):c.1172A>G (p.Gln391Arg)
|
rs758680936
|
0.00001
|
|
NM_001384140.1(PCDH15):c.1180T>C (p.Tyr394His)
|
rs778369017
|
0.00001
|
|
NM_001384140.1(PCDH15):c.1185T>C (p.Phe395=)
|
rs1427922641
|
0.00001
|
|
NM_001384140.1(PCDH15):c.1228G>T (p.Val410Leu)
|
rs1410944616
|
0.00001
|
|
NM_001384140.1(PCDH15):c.1244C>T (p.Ser415Leu)
|
rs747154146
|
0.00001
|
|
NM_001384140.1(PCDH15):c.1268C>T (p.Pro423Leu)
|
rs2049537464
|
0.00001
|
|
NM_001384140.1(PCDH15):c.1280T>C (p.Val427Ala)
|
rs142698812
|
0.00001
|
|
NM_001384140.1(PCDH15):c.1377T>C (p.Ile459=)
|
rs763593526
|
0.00001
|
|
NM_001384140.1(PCDH15):c.1385A>G (p.Tyr462Cys)
|
rs201284699
|
0.00001
|
|
NM_001384140.1(PCDH15):c.1439C>T (p.Ser480Leu)
|
rs1281151581
|
0.00001
|
|
NM_001384140.1(PCDH15):c.1440+7A>C
|
rs540070936
|
0.00001
|
|
NM_001384140.1(PCDH15):c.1522A>G (p.Thr508Ala)
|
rs570048496
|
0.00001
|
|
NM_001384140.1(PCDH15):c.161C>T (p.Thr54Ile)
|
rs727505253
|
0.00001
|
|
NM_001384140.1(PCDH15):c.1651G>A (p.Gly551Arg)
|
rs764162624
|
0.00001
|
|
NM_001384140.1(PCDH15):c.1812A>C (p.Glu604Asp)
|
rs771456526
|
0.00001
|
|
NM_001384140.1(PCDH15):c.1836C>A (p.Ser612Arg)
|
rs200226791
|
0.00001
|
|
NM_001384140.1(PCDH15):c.1898C>T (p.Ala633Val)
|
rs1475018348
|
0.00001
|
|
NM_001384140.1(PCDH15):c.1970C>T (p.Pro657Leu)
|
rs757098609
|
0.00001
|
|
NM_001384140.1(PCDH15):c.198T>C (p.Ala66=)
|
rs777099546
|
0.00001
|
|
NM_001384140.1(PCDH15):c.2202C>T (p.Ala734=)
|
rs201636125
|
0.00001
|
|
NM_001384140.1(PCDH15):c.2348A>G (p.Asp783Gly)
|
rs765443935
|
0.00001
|
|
NM_001384140.1(PCDH15):c.2354A>G (p.Tyr785Cys)
|
rs753912234
|
0.00001
|
|
NM_001384140.1(PCDH15):c.2439T>A (p.Asp813Glu)
|
rs397517453
|
0.00001
|
|
NM_001384140.1(PCDH15):c.2441A>G (p.Asp814Gly)
|
rs200430672
|
0.00001
|
|
NM_001384140.1(PCDH15):c.2445C>T (p.Asn815=)
|
rs768200772
|
0.00001
|
|
NM_001384140.1(PCDH15):c.2810C>T (p.Pro937Leu)
|
rs771024131
|
0.00001
|
|
NM_001384140.1(PCDH15):c.2987A>G (p.Glu996Gly)
|
rs1223956690
|
0.00001
|
|
NM_001384140.1(PCDH15):c.3100C>T (p.Arg1034Cys)
|
rs780335938
|
0.00001
|
|
NM_001384140.1(PCDH15):c.3122+3A>G
|
rs373365331
|
0.00001
|
|
NM_001384140.1(PCDH15):c.3358C>T (p.Arg1120Ter)
|
rs773404494
|
0.00001
|
|
NM_001384140.1(PCDH15):c.3382G>A (p.Ala1128Thr)
|
rs200748221
|
0.00001
|
|
NM_001384140.1(PCDH15):c.3502-7C>T
|
rs757876538
|
0.00001
|
|
NM_001384140.1(PCDH15):c.3522C>A (p.Gly1174=)
|
rs753725514
|
0.00001
|
|
NM_001384140.1(PCDH15):c.3656A>G (p.Lys1219Arg)
|
rs763978654
|
0.00001
|
|
NM_001384140.1(PCDH15):c.3717+2dup
|
rs1248401224
|
0.00001
|
|
NM_001384140.1(PCDH15):c.3932A>G (p.Tyr1311Cys)
|
rs752031456
|
0.00001
|
|
NM_001384140.1(PCDH15):c.4192A>C (p.Ser1398Arg)
|
rs376146659
|
0.00001
|
|
NM_001384140.1(PCDH15):c.4260C>T (p.Pro1420=)
|
rs775658931
|
0.00001
|
|
NM_001384140.1(PCDH15):c.4265C>G (p.Ala1422Gly)
|
rs772491935
|
0.00001
|
|
NM_001384140.1(PCDH15):c.526G>A (p.Ala176Thr)
|
rs758750902
|
0.00001
|
|
NM_001384140.1(PCDH15):c.7C>T (p.Arg3Ter)
|
rs137853001
|
0.00001
|
|
NM_001384140.1(PCDH15):c.907C>T (p.Pro303Ser)
|
rs1283485823
|
0.00001
|
|
NM_001384140.1(PCDH15):c.925C>A (p.Gln309Lys)
|
rs762029000
|
0.00001
|
|
NM_001384474.1(LOXHD1):c.*4G>A
|
rs876657856
|
0.00001
|
|
NM_001384474.1(LOXHD1):c.1061T>A (p.Leu354His)
|
rs727503150
|
0.00001
|
|
NM_001384474.1(LOXHD1):c.1469G>A (p.Arg490Gln)
|
rs397517860
|
0.00001
|
|
NM_001384474.1(LOXHD1):c.1833T>C (p.Ser611=)
|
rs918348196
|
0.00001
|
|
NM_001384474.1(LOXHD1):c.1872C>T (p.His624=)
|
rs751871989
|
0.00001
|
|
NM_001384474.1(LOXHD1):c.1912G>A (p.Val638Met)
|
rs876657854
|
0.00001
|
|
NM_001384474.1(LOXHD1):c.2035G>A (p.Ala679Thr)
|
rs779377762
|
0.00001
|
|
NM_001384474.1(LOXHD1):c.2112C>A (p.Val704=)
|
rs1017933129
|
0.00001
|
|
NM_001384474.1(LOXHD1):c.2332G>A (p.Gly778Ser)
|
rs876657860
|
0.00001
|
|
NM_001384474.1(LOXHD1):c.246-2A>G
|
rs763062406
|
0.00001
|
|
NM_001384474.1(LOXHD1):c.246-5T>C
|
rs1453735142
|
0.00001
|
|
NM_001384474.1(LOXHD1):c.2676C>T (p.Phe892=)
|
rs568152703
|
0.00001
|
|
NM_001384474.1(LOXHD1):c.2677G>A (p.Val893Met)
|
rs769899814
|
0.00001
|
|
NM_001384474.1(LOXHD1):c.2729C>T (p.Pro910Leu)
|
rs534815867
|
0.00001
|
|
NM_001384474.1(LOXHD1):c.2770C>T (p.Arg924Trp)
|
rs886053832
|
0.00001
|
|
NM_001384474.1(LOXHD1):c.2910G>A (p.Met970Ile)
|
rs1485784156
|
0.00001
|
|
NM_001384474.1(LOXHD1):c.3061C>T (p.Arg1021Ter)
|
rs963520367
|
0.00001
|
|
NM_001384474.1(LOXHD1):c.3169C>T (p.Arg1057Ter)
|
rs727505104
|
0.00001
|
|
NM_001384474.1(LOXHD1):c.3428A>T (p.Asp1143Val)
|
rs727503143
|
0.00001
|
|
NM_001384474.1(LOXHD1):c.3450G>A (p.Gln1150=)
|
rs997622169
|
0.00001
|
|
NM_001384474.1(LOXHD1):c.3657T>A (p.Asp1219Glu)
|
rs397517862
|
0.00001
|
|
NM_001384474.1(LOXHD1):c.4256C>T (p.Thr1419Ile)
|
rs866017859
|
0.00001
|
|
NM_001384474.1(LOXHD1):c.4281T>G (p.Ile1427Met)
|
rs727503140
|
0.00001
|
|
NM_001384474.1(LOXHD1):c.4531-9G>A
|
rs1409319193
|
0.00001
|
|
NM_001384474.1(LOXHD1):c.458G>A (p.Arg153His)
|
rs778691392
|
0.00001
|
|
NM_001384474.1(LOXHD1):c.4794_4795insTC (p.Ile1599fs)
|
rs1598914701
|
0.00001
|
|
NM_001384474.1(LOXHD1):c.4818C>T (p.Ala1606=)
|
rs976758061
|
0.00001
|
|
NM_001384474.1(LOXHD1):c.5002C>T (p.Arg1668Ter)
|
rs961865375
|
0.00001
|
|
NM_001384474.1(LOXHD1):c.5085+1G>T
|
rs1418245706
|
0.00001
|
|
NM_001384474.1(LOXHD1):c.5273T>A (p.Val1758Asp)
|
rs727503139
|
0.00001
|
|
NM_001384474.1(LOXHD1):c.5314G>A (p.Gly1772Arg)
|
rs775186197
|
0.00001
|
|
NM_001384474.1(LOXHD1):c.5731G>A (p.Gly1911Arg)
|
rs780560784
|
0.00001
|
|
NM_001384474.1(LOXHD1):c.5979G>A (p.Glu1993=)
|
rs1402378599
|
0.00001
|
|
NM_001384474.1(LOXHD1):c.611-7C>T
|
rs916137735
|
0.00001
|
|
NM_001384474.1(LOXHD1):c.6516C>T (p.Ala2172=)
|
rs886042223
|
0.00001
|
|
NM_001384474.1(LOXHD1):c.6595G>A (p.Glu2199Lys)
|
rs376559755
|
0.00001
|
|
NM_001384474.1(LOXHD1):c.663C>G (p.Asp221Glu)
|
rs1304841781
|
0.00001
|
|
NM_001386140.1(MTTP):c.1286T>C (p.Met429Thr)
|
rs765712127
|
0.00001
|
|
NM_001386140.1(MTTP):c.1325A>G (p.Asn442Ser)
|
rs368711749
|
0.00001
|
|
NM_001386140.1(MTTP):c.1407C>T (p.Asp469=)
|
rs749203075
|
0.00001
|
|
NM_001386140.1(MTTP):c.1564A>G (p.Lys522Glu)
|
rs780688378
|
0.00001
|
|
NM_001386140.1(MTTP):c.1636A>G (p.Ile546Val)
|
rs200992175
|
0.00001
|
|
NM_001386140.1(MTTP):c.1783C>T (p.Arg595Ter)
|
rs199422219
|
0.00001
|
|
NM_001386140.1(MTTP):c.1868-2A>G
|
rs760547155
|
0.00001
|
|
NM_001386140.1(MTTP):c.1951T>C (p.Phe651Leu)
|
rs1159084242
|
0.00001
|
|
NM_001386140.1(MTTP):c.2006A>G (p.Gln669Arg)
|
rs1309109456
|
0.00001
|
|
NM_001386140.1(MTTP):c.2041G>A (p.Glu681Lys)
|
rs886058958
|
0.00001
|
|
NM_001386140.1(MTTP):c.2144C>G (p.Ser715Cys)
|
rs149228079
|
0.00001
|
|
NM_001386140.1(MTTP):c.2315G>A (p.Arg772His)
|
rs752590883
|
0.00001
|
|
NM_001386140.1(MTTP):c.2348C>T (p.Thr783Ile)
|
rs572336571
|
0.00001
|
|
NM_001386140.1(MTTP):c.2532C>T (p.Tyr844=)
|
rs781654995
|
0.00001
|
|
NM_001386140.1(MTTP):c.2666C>A (p.Thr889Asn)
|
rs1459889971
|
0.00001
|
|
NM_001386140.1(MTTP):c.332T>C (p.Met111Thr)
|
rs1283368181
|
0.00001
|
|
NM_001386140.1(MTTP):c.452G>T (p.Gly151Val)
|
rs1252692732
|
0.00001
|
|
NM_001386140.1(MTTP):c.536A>G (p.Gln179Arg)
|
rs746001155
|
0.00001
|
|
NM_001386140.1(MTTP):c.695C>T (p.Ala232Val)
|
rs748108500
|
0.00001
|
|
NM_001692.4(ATP6V1B1):c.1373A>G (p.Asn458Ser)
|
rs1434098166
|
0.00001
|
|
NM_001692.4(ATP6V1B1):c.1503G>A (p.Glu501=)
|
rs782581074
|
0.00001
|
|
NM_001692.4(ATP6V1B1):c.305G>A (p.Arg102Lys)
|
rs202011016
|
0.00001
|
|
NM_001692.4(ATP6V1B1):c.340C>T (p.Arg114Ter)
|
rs782138777
|
0.00001
|
|
NM_001692.4(ATP6V1B1):c.393G>A (p.Lys131=)
|
rs1332086842
|
0.00001
|
|
NM_001692.4(ATP6V1B1):c.469C>T (p.Arg157Cys)
|
rs782500780
|
0.00001
|
|
NM_001692.4(ATP6V1B1):c.512T>C (p.Ile171Thr)
|
rs782807034
|
0.00001
|
|
NM_001692.4(ATP6V1B1):c.6C>T (p.Ala2=)
|
rs1553415239
|
0.00001
|
|
NM_001692.4(ATP6V1B1):c.785+1G>A
|
rs727504746
|
0.00001
|
|
NM_002454.3(MTRR):c.1035A>G (p.Ile345Met)
|
rs140944718
|
0.00001
|
|
NM_002454.3(MTRR):c.1086G>A (p.Ala362=)
|
rs750381895
|
0.00001
|
|
NM_002454.3(MTRR):c.1135A>G (p.Ile379Val)
|
rs746404785
|
0.00001
|
|
NM_002454.3(MTRR):c.1179T>C (p.Ser393=)
|
rs1333791112
|
0.00001
|
|
NM_002454.3(MTRR):c.123C>T (p.Ser41=)
|
rs759379396
|
0.00001
|
|
NM_002454.3(MTRR):c.1253G>A (p.Arg418Gln)
|
rs749461781
|
0.00001
|
|
NM_002454.3(MTRR):c.1266C>T (p.Ala422=)
|
rs981600908
|
0.00001
|
|
NM_002454.3(MTRR):c.1361C>T (p.Ser454Leu)
|
rs137853062
|
0.00001
|
|
NM_002454.3(MTRR):c.1769+8A>G
|
rs892239997
|
0.00001
|
|
NM_002454.3(MTRR):c.1780A>T (p.Arg594Ter)
|
rs1293600145
|
0.00001
|
|
NM_002454.3(MTRR):c.1844T>C (p.Val615Ala)
|
rs1318949494
|
0.00001
|
|
NM_002454.3(MTRR):c.1890G>A (p.Gln630=)
|
rs9282786
|
0.00001
|
|
NM_002454.3(MTRR):c.399A>G (p.Val133=)
|
rs560392566
|
0.00001
|
|
NM_002454.3(MTRR):c.401+10G>A
|
rs760026002
|
0.00001
|
|
NM_002454.3(MTRR):c.498A>G (p.Ala166=)
|
rs747865209
|
0.00001
|
|
NM_002454.3(MTRR):c.832A>G (p.Ile278Val)
|
rs1377146830
|
0.00001
|
|
NM_002485.5(NBN):c.1023C>G (p.Ser341Arg)
|
rs756023239
|
0.00001
|
|
NM_002485.5(NBN):c.1030C>T (p.Gln344Ter)
|
rs767215758
|
0.00001
|
|
NM_002485.5(NBN):c.1034G>T (p.Gly345Val)
|
rs587780089
|
0.00001
|
|
NM_002485.5(NBN):c.1056A>G (p.Leu352=)
|
rs369092711
|
0.00001
|
|
NM_002485.5(NBN):c.1066G>A (p.Ala356Thr)
|
rs777259845
|
0.00001
|
|
NM_002485.5(NBN):c.1090G>A (p.Val364Ile)
|
rs765403660
|
0.00001
|
|
NM_002485.5(NBN):c.1091T>C (p.Val364Ala)
|
rs370229163
|
0.00001
|
|
NM_002485.5(NBN):c.112G>C (p.Asp38His)
|
rs876659565
|
0.00001
|
|
NM_002485.5(NBN):c.1147G>A (p.Glu383Lys)
|
rs772909239
|
0.00001
|
|
NM_002485.5(NBN):c.1152C>G (p.Ile384Met)
|
rs551802153
|
0.00001
|
|
NM_002485.5(NBN):c.1177T>C (p.Phe393Leu)
|
rs941732827
|
0.00001
|
|
NM_002485.5(NBN):c.119C>T (p.Ser40Leu)
|
rs587781530
|
0.00001
|
|
NM_002485.5(NBN):c.1247T>C (p.Met416Thr)
|
rs863224713
|
0.00001
|
|
NM_002485.5(NBN):c.128G>A (p.Arg43Gln)
|
rs759146120
|
0.00001
|
|
NM_002485.5(NBN):c.1321A>G (p.Lys441Glu)
|
rs751876787
|
0.00001
|
|
NM_002485.5(NBN):c.1361C>A (p.Ser454Tyr)
|
rs587780774
|
0.00001
|
|
NM_002485.5(NBN):c.1397+3C>G
|
rs876660481
|
0.00001
|
|
NM_002485.5(NBN):c.1404G>T (p.Arg468Ser)
|
rs730881851
|
0.00001
|
|
NM_002485.5(NBN):c.1412A>G (p.Glu471Gly)
|
rs878854505
|
0.00001
|
|
NM_002485.5(NBN):c.1471G>A (p.Glu491Lys)
|
rs776900339
|
0.00001
|
|
NM_002485.5(NBN):c.1480C>A (p.Gln494Lys)
|
rs587781557
|
0.00001
|
|
NM_002485.5(NBN):c.1549A>G (p.Asn517Asp)
|
rs1040315184
|
0.00001
|
|
NM_002485.5(NBN):c.1619A>G (p.His540Arg)
|
rs730881852
|
0.00001
|
|
NM_002485.5(NBN):c.1628A>G (p.Glu543Gly)
|
rs587781624
|
0.00001
|
|
NM_002485.5(NBN):c.1657A>G (p.Met553Val)
|
rs746347634
|
0.00001
|
|
NM_002485.5(NBN):c.1730A>T (p.Asp577Val)
|
rs1341969209
|
0.00001
|
|
NM_002485.5(NBN):c.1754A>G (p.Glu585Gly)
|
rs763926389
|
0.00001
|
|
NM_002485.5(NBN):c.1763A>G (p.Asn588Ser)
|
rs876658681
|
0.00001
|
|
NM_002485.5(NBN):c.1816G>A (p.Glu606Lys)
|
rs774324419
|
0.00001
|
|
NM_002485.5(NBN):c.1843T>C (p.Ser615Pro)
|
rs746632073
|
0.00001
|
|
NM_002485.5(NBN):c.1845+6T>C
|
rs1033050295
|
0.00001
|
|
NM_002485.5(NBN):c.1856A>C (p.Glu619Ala)
|
rs763546746
|
0.00001
|
|
NM_002485.5(NBN):c.1912T>C (p.Ser638Pro)
|
rs199657566
|
0.00001
|
|
NM_002485.5(NBN):c.1919A>G (p.Asn640Ser)
|
rs748073091
|
0.00001
|
|
NM_002485.5(NBN):c.2038G>A (p.Gly680Ser)
|
rs200564603
|
0.00001
|
|
NM_002485.5(NBN):c.2149A>T (p.Thr717Ser)
|
rs587780093
|
0.00001
|
|
NM_002485.5(NBN):c.2165G>C (p.Trp722Ser)
|
rs786204181
|
0.00001
|
|
NM_002485.5(NBN):c.323T>C (p.Ile108Thr)
|
rs775217949
|
0.00001
|
|
NM_002485.5(NBN):c.329A>G (p.Tyr110Cys)
|
rs1355269482
|
0.00001
|
|
NM_002485.5(NBN):c.350C>T (p.Ser117Phe)
|
rs1060503468
|
0.00001
|
|
NM_002485.5(NBN):c.362A>G (p.Asp121Gly)
|
rs770163751
|
0.00001
|
|
NM_002485.5(NBN):c.415A>G (p.Thr139Ala)
|
rs543852763
|
0.00001
|
|
NM_002485.5(NBN):c.468A>C (p.Lys156Asn)
|
rs730881858
|
0.00001
|
|
NM_002485.5(NBN):c.481-2A>T
|
rs751567476
|
0.00001
|
|
NM_002485.5(NBN):c.584+3A>G
|
rs587782407
|
0.00001
|
|
NM_002485.5(NBN):c.596C>G (p.Pro199Arg)
|
rs730881844
|
0.00001
|
|
NM_002485.5(NBN):c.644G>A (p.Arg215Gln)
|
rs61753718
|
0.00001
|
|
NM_002485.5(NBN):c.64G>A (p.Val22Ile)
|
rs369910645
|
0.00001
|
|
NM_002485.5(NBN):c.656A>G (p.Lys219Arg)
|
rs376951288
|
0.00001
|
|
NM_002485.5(NBN):c.666C>T (p.Phe222=)
|
rs876661098
|
0.00001
|
|
NM_002485.5(NBN):c.703C>T (p.His235Tyr)
|
rs1554564044
|
0.00001
|
|
NM_002485.5(NBN):c.773A>G (p.Glu258Gly)
|
rs786203380
|
0.00001
|
|
NM_002485.5(NBN):c.783T>G (p.Asn261Lys)
|
rs375336614
|
0.00001
|
|
NM_002485.5(NBN):c.796C>T (p.Pro266Ser)
|
rs762956906
|
0.00001
|
|
NM_002485.5(NBN):c.820G>A (p.Gly274Arg)
|
rs540837864
|
0.00001
|
|
NM_002485.5(NBN):c.827C>G (p.Thr276Arg)
|
rs864622304
|
0.00001
|
|
NM_002485.5(NBN):c.83G>A (p.Arg28Lys)
|
rs876658581
|
0.00001
|
|
NM_002485.5(NBN):c.842T>G (p.Leu281Ter)
|
rs786205135
|
0.00001
|
|
NM_002485.5(NBN):c.897G>A (p.Arg299=)
|
rs779798363
|
0.00001
|
|
NM_002485.5(NBN):c.937G>T (p.Ala313Ser)
|
rs876660584
|
0.00001
|
|
NM_002485.5(NBN):c.938C>T (p.Ala313Val)
|
rs730881862
|
0.00001
|
|
NM_002485.5(NBN):c.986C>T (p.Pro329Leu)
|
rs1386471248
|
0.00001
|
|
NM_002617.4(PEX10):c.248G>A (p.Arg83Gln)
|
rs372894429
|
0.00001
|
|
NM_002617.4(PEX10):c.266C>T (p.Ser89Leu)
|
rs769847524
|
0.00001
|
|
NM_002617.4(PEX10):c.29A>C (p.Glu10Ala)
|
rs1367685379
|
0.00001
|
|
NM_002617.4(PEX10):c.338T>C (p.Leu113Pro)
|
rs757778155
|
0.00001
|
|
NM_002617.4(PEX10):c.390C>G (p.Ser130Arg)
|
rs1425257705
|
0.00001
|
|
NM_002617.4(PEX10):c.436C>T (p.Arg146Cys)
|
rs1184194956
|
0.00001
|
|
NM_002617.4(PEX10):c.496G>A (p.Val166Ile)
|
rs368864383
|
0.00001
|
|
NM_002617.4(PEX10):c.601-3C>G
|
rs369643163
|
0.00001
|
|
NM_002617.4(PEX10):c.601-56C>T
|
rs761449217
|
0.00001
|
|
NM_002617.4(PEX10):c.698G>A (p.Gly233Glu)
|
rs372574195
|
0.00001
|
|
NM_002617.4(PEX10):c.718A>G (p.Arg240Gly)
|
rs1424367364
|
0.00001
|
|
NM_002617.4(PEX10):c.776+9G>A
|
rs528387404
|
0.00001
|
|
NM_002617.4(PEX10):c.823C>T (p.Leu275=)
|
rs752928632
|
0.00001
|
|
NM_002617.4(PEX10):c.864C>T (p.Cys288=)
|
rs762621687
|
0.00001
|
|
NM_002617.4(PEX10):c.931C>T (p.Arg311Trp)
|
rs765965290
|
0.00001
|
|
NM_003384.3(VRK1):c.1064C>G (p.Thr355Arg)
|
rs1322207018
|
0.00001
|
|
NM_003384.3(VRK1):c.1099G>C (p.Glu367Gln)
|
rs145241983
|
0.00001
|
|
NM_003384.3(VRK1):c.1142A>G (p.Glu381Gly)
|
rs549505565
|
0.00001
|
|
NM_003384.3(VRK1):c.1159C>T (p.Arg387Cys)
|
rs149083861
|
0.00001
|
|
NM_003384.3(VRK1):c.1166G>A (p.Arg389Lys)
|
rs766501031
|
0.00001
|
|
NM_003384.3(VRK1):c.134A>G (p.Gln45Arg)
|
rs1372198425
|
0.00001
|
|
NM_003384.3(VRK1):c.151A>G (p.Ile51Val)
|
rs1237038231
|
0.00001
|
|
NM_003384.3(VRK1):c.176C>T (p.Ser59Leu)
|
rs1474265077
|
0.00001
|
|
NM_003384.3(VRK1):c.362A>G (p.Lys121Arg)
|
rs1064796973
|
0.00001
|
|
NM_003384.3(VRK1):c.466C>A (p.Gln156Lys)
|
rs201936978
|
0.00001
|
|
NM_003384.3(VRK1):c.576+9A>G
|
rs978347799
|
0.00001
|
|
NM_003384.3(VRK1):c.577-4A>G
|
rs1194395636
|
0.00001
|
|
NM_003384.3(VRK1):c.607C>T (p.Arg203Trp)
|
rs144600646
|
0.00001
|
|
NM_003384.3(VRK1):c.772C>T (p.His258Tyr)
|
rs761905254
|
0.00001
|
|
NM_003384.3(VRK1):c.830+10A>G
|
rs544437757
|
0.00001
|
|
NM_003494.4(DYSF):c.1493G>T (p.Gly498Val)
|
rs1057524492
|
0.00001
|
|
NM_003494.4(DYSF):c.27C>G (p.Ala9=)
|
rs771520271
|
0.00001
|
|
NM_004004.6(GJB2):c.*4A>G
|
rs745748793
|
0.00001
|
|
NM_004004.6(GJB2):c.-22-7T>C
|
rs372197957
|
0.00001
|
|
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter)
|
rs104894413
|
0.00001
|
|
NM_004004.6(GJB2):c.146C>T (p.Ala49Val)
|
rs1057517976
|
0.00001
|
|
NM_004004.6(GJB2):c.14C>T (p.Thr5Met)
|
rs781085903
|
0.00001
|
|
NM_004004.6(GJB2):c.188T>C (p.Val63Ala)
|
rs727504309
|
0.00001
|
|
NM_004004.6(GJB2):c.246C>G (p.Ile82Met)
|
rs781534323
|
0.00001
|
|
NM_004004.6(GJB2):c.269dup (p.Val91fs)
|
rs730880338
|
0.00001
|
|
NM_004004.6(GJB2):c.31_68del (p.Gly11fs)
|
rs397516873
|
0.00001
|
|
NM_004004.6(GJB2):c.331A>G (p.Ile111Val)
|
rs1003660637
|
0.00001
|
|
NM_004004.6(GJB2):c.358G>A (p.Glu120Lys)
|
rs528216023
|
0.00001
|
|
NM_004004.6(GJB2):c.456C>T (p.Tyr152=)
|
rs111033420
|
0.00001
|
|
NM_004004.6(GJB2):c.490C>G (p.Gln164Glu)
|
rs757699303
|
0.00001
|
|
NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr)
|
rs774518779
|
0.00001
|
|
NM_004004.6(GJB2):c.566C>A (p.Thr189Asn)
|
rs199790409
|
0.00001
|
|
NM_005709.4(USH1C):c.1236C>T (p.Leu412=)
|
rs755834769
|
0.00001
|
|
NM_005709.4(USH1C):c.1255G>A (p.Asp419Asn)
|
rs977658619
|
0.00001
|
|
NM_006019.4(TCIRG1):c.1080A>G (p.Thr360=)
|
rs767700786
|
0.00001
|
|
NM_006019.4(TCIRG1):c.1088G>A (p.Arg363His)
|
rs755474518
|
0.00001
|
|
NM_006019.4(TCIRG1):c.1276C>T (p.Arg426Ter)
|
rs1489993984
|
0.00001
|
|
NM_006019.4(TCIRG1):c.1305+10G>A
|
rs1405179710
|
0.00001
|
|
NM_006019.4(TCIRG1):c.1372G>A (p.Gly458Ser)
|
rs200851583
|
0.00001
|
|
NM_006019.4(TCIRG1):c.1402G>A (p.Ala468Thr)
|
rs774244420
|
0.00001
|
|
NM_006019.4(TCIRG1):c.1510G>A (p.Val504Ile)
|
rs755559179
|
0.00001
|
|
NM_006019.4(TCIRG1):c.1587C>A (p.Phe529Leu)
|
rs376351835
|
0.00001
|
|
NM_006019.4(TCIRG1):c.1663T>C (p.Phe555Leu)
|
rs779779379
|
0.00001
|
|
NM_006019.4(TCIRG1):c.1693C>T (p.Arg565Trp)
|
rs890729823
|
0.00001
|
|
NM_006019.4(TCIRG1):c.16C>T (p.Arg6Trp)
|
rs563996115
|
0.00001
|
|
NM_006019.4(TCIRG1):c.1718A>G (p.Glu573Gly)
|
rs576389893
|
0.00001
|
|
NM_006019.4(TCIRG1):c.1825C>T (p.His609Tyr)
|
rs751612634
|
0.00001
|
|
NM_006019.4(TCIRG1):c.1845C>T (p.Leu615=)
|
rs755196821
|
0.00001
|
|
NM_006019.4(TCIRG1):c.2049C>T (p.Asp683=)
|
rs780969471
|
0.00001
|
|
NM_006019.4(TCIRG1):c.2115C>T (p.Ala705=)
|
rs769840926
|
0.00001
|
|
NM_006019.4(TCIRG1):c.2122G>A (p.Val708Ile)
|
rs573002924
|
0.00001
|
|
NM_006019.4(TCIRG1):c.2232C>T (p.His744=)
|
rs774906865
|
0.00001
|
|
NM_006019.4(TCIRG1):c.2358T>A (p.Ala786=)
|
rs776554801
|
0.00001
|
|
NM_006019.4(TCIRG1):c.2443G>A (p.Gly815Ser)
|
rs1308533755
|
0.00001
|
|
NM_006019.4(TCIRG1):c.2486A>G (p.Asp829Gly)
|
rs147175413
|
0.00001
|
|
NM_006019.4(TCIRG1):c.249G>A (p.Lys83=)
|
rs367708208
|
0.00001
|
|
NM_006019.4(TCIRG1):c.260C>T (p.Pro87Leu)
|
rs982462013
|
0.00001
|
|
NM_006019.4(TCIRG1):c.381C>T (p.Leu127=)
|
rs1266423367
|
0.00001
|
|
NM_006019.4(TCIRG1):c.394C>T (p.Leu132=)
|
rs1410683808
|
0.00001
|
|
NM_006019.4(TCIRG1):c.417+10C>T
|
rs1224261645
|
0.00001
|
|
NM_006019.4(TCIRG1):c.426C>T (p.Ala142=)
|
rs1006980323
|
0.00001
|
|
NM_006019.4(TCIRG1):c.550C>T (p.Arg184Cys)
|
rs1375468915
|
0.00001
|
|
NM_006019.4(TCIRG1):c.764G>A (p.Gly255Glu)
|
rs1379501520
|
0.00001
|
|
NM_006019.4(TCIRG1):c.776A>T (p.Gln259Leu)
|
rs1229696229
|
0.00001
|
|
NM_006019.4(TCIRG1):c.991G>A (p.Ala331Thr)
|
rs773402451
|
0.00001
|
|
NM_006118.4(HAX1):c.150G>T (p.Arg50Ser)
|
rs762584289
|
0.00001
|
|
NM_006118.4(HAX1):c.193T>G (p.Phe65Val)
|
rs1648509630
|
0.00001
|
|
NM_006118.4(HAX1):c.36C>G (p.Gly12=)
|
rs201477841
|
0.00001
|
|
NM_006118.4(HAX1):c.461C>T (p.Pro154Leu)
|
rs1389861333
|
0.00001
|
|
NM_006118.4(HAX1):c.46C>T (p.Pro16Ser)
|
rs763746492
|
0.00001
|
|
NM_006118.4(HAX1):c.505-9C>T
|
rs779604569
|
0.00001
|
|
NM_006118.4(HAX1):c.571G>A (p.Val191Ile)
|
rs1024291441
|
0.00001
|
|
NM_006118.4(HAX1):c.685G>C (p.Val229Leu)
|
rs1465330876
|
0.00001
|
|
NM_006118.4(HAX1):c.811T>C (p.Phe271Leu)
|
rs375704974
|
0.00001
|
|
NM_006432.5(NPC2):c.190+5G>A
|
rs80358268
|
0.00001
|
|
NM_006432.5(NPC2):c.414C>A (p.Leu138=)
|
rs1323196897
|
0.00001
|
|
NM_007259.5(VPS45):c.1162G>A (p.Val388Met)
|
rs782104716
|
0.00001
|
|
NM_007259.5(VPS45):c.1231A>G (p.Arg411Gly)
|
rs782194772
|
0.00001
|
|
NM_007259.5(VPS45):c.1255T>C (p.Tyr419His)
|
rs782431885
|
0.00001
|
|
NM_007259.5(VPS45):c.1448A>G (p.Lys483Arg)
|
rs917642055
|
0.00001
|
|
NM_007259.5(VPS45):c.201G>A (p.Lys67=)
|
rs782546296
|
0.00001
|
|
NM_007259.5(VPS45):c.257T>C (p.Leu86Pro)
|
rs782513242
|
0.00001
|
|
NM_007259.5(VPS45):c.299A>G (p.Asn100Ser)
|
rs139341274
|
0.00001
|
|
NM_007259.5(VPS45):c.353T>G (p.Val118Gly)
|
rs1298740891
|
0.00001
|
|
NM_007259.5(VPS45):c.481G>A (p.Gly161Arg)
|
rs200134576
|
0.00001
|
|
NM_007259.5(VPS45):c.580G>A (p.Val194Met)
|
rs587713385
|
0.00001
|
|
NM_007259.5(VPS45):c.596A>C (p.Tyr199Ser)
|
rs368347807
|
0.00001
|
|
NM_007259.5(VPS45):c.613C>T (p.Arg205Cys)
|
rs908608470
|
0.00001
|
|
NM_007259.5(VPS45):c.617G>A (p.Arg206Gln)
|
rs782495021
|
0.00001
|
|
NM_007259.5(VPS45):c.64A>G (p.Met22Val)
|
rs782253570
|
0.00001
|
|
NM_007259.5(VPS45):c.718C>G (p.Leu240Val)
|
rs587716374
|
0.00001
|
|
NM_007259.5(VPS45):c.857A>G (p.Asn286Ser)
|
rs782164464
|
0.00001
|
|
NM_007259.5(VPS45):c.898A>G (p.Lys300Glu)
|
rs782739886
|
0.00001
|
|
NM_007259.5(VPS45):c.915A>G (p.Leu305=)
|
rs1385543985
|
0.00001
|
|
NM_014363.6(SACS):c.10819A>G (p.Ile3607Val)
|
rs372494676
|
0.00001
|
|
NM_014363.6(SACS):c.10906C>T (p.Arg3636Ter)
|
rs780247476
|
0.00001
|
|
NM_014363.6(SACS):c.10907G>A (p.Arg3636Gln)
|
rs281865119
|
0.00001
|
|
NM_014363.6(SACS):c.11116A>G (p.Ile3706Val)
|
rs748237614
|
0.00001
|
|
NM_014363.6(SACS):c.11150A>T (p.Lys3717Ile)
|
rs1883567634
|
0.00001
|
|
NM_014363.6(SACS):c.11207T>C (p.Met3736Thr)
|
rs759433888
|
0.00001
|
|
NM_014363.6(SACS):c.11535A>G (p.Glu3845=)
|
rs750167647
|
0.00001
|
|
NM_014363.6(SACS):c.11684T>G (p.Val3895Gly)
|
rs766487632
|
0.00001
|
|
NM_014363.6(SACS):c.11707C>T (p.Arg3903Ter)
|
rs774906736
|
0.00001
|
|
NM_014363.6(SACS):c.11737G>C (p.Asp3913His)
|
rs746782589
|
0.00001
|
|
NM_014363.6(SACS):c.11738A>T (p.Asp3913Val)
|
rs1236705431
|
0.00001
|
|
NM_014363.6(SACS):c.11887A>G (p.Met3963Val)
|
rs375613914
|
0.00001
|
|
NM_014363.6(SACS):c.12059A>G (p.Lys4020Arg)
|
rs1328721442
|
0.00001
|
|
NM_014363.6(SACS):c.12075T>G (p.Asn4025Lys)
|
rs778310483
|
0.00001
|
|
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter)
|
rs281865120
|
0.00001
|
|
NM_014363.6(SACS):c.12500C>T (p.Thr4167Ile)
|
rs764098635
|
0.00001
|
|
NM_014363.6(SACS):c.12606A>C (p.Thr4202=)
|
rs780674369
|
0.00001
|
|
NM_014363.6(SACS):c.12635G>A (p.Arg4212Lys)
|
rs1490155590
|
0.00001
|
|
NM_014363.6(SACS):c.13119C>T (p.Asp4373=)
|
rs368124828
|
0.00001
|
|
NM_014363.6(SACS):c.13273G>A (p.Gly4425Arg)
|
rs754693143
|
0.00001
|
|
NM_014363.6(SACS):c.13284C>T (p.Tyr4428=)
|
rs753277514
|
0.00001
|
|
NM_014363.6(SACS):c.13506A>G (p.Pro4502=)
|
rs1593119067
|
0.00001
|
|
NM_014363.6(SACS):c.13509T>G (p.Thr4503=)
|
rs745361567
|
0.00001
|
|
NM_014363.6(SACS):c.13538G>A (p.Ser4513Asn)
|
rs138328181
|
0.00001
|
|
NM_014363.6(SACS):c.13574C>G (p.Thr4525Arg)
|
rs750412600
|
0.00001
|
|
NM_014363.6(SACS):c.1683G>A (p.Val561=)
|
rs1485932032
|
0.00001
|
|
NM_014363.6(SACS):c.1728C>T (p.Tyr576=)
|
rs750748828
|
0.00001
|
|
NM_014363.6(SACS):c.1752A>G (p.Leu584=)
|
rs368626712
|
0.00001
|
|
NM_014363.6(SACS):c.1846G>C (p.Ala616Pro)
|
rs200437752
|
0.00001
|
|
NM_014363.6(SACS):c.1907G>A (p.Arg636Gln)
|
rs368944813
|
0.00001
|
|
NM_014363.6(SACS):c.2023A>T (p.Asn675Tyr)
|
rs374667929
|
0.00001
|
|
NM_014363.6(SACS):c.2278T>C (p.Leu760=)
|
rs770454726
|
0.00001
|
|
NM_014363.6(SACS):c.2451C>T (p.Leu817=)
|
rs756595744
|
0.00001
|
|
NM_014363.6(SACS):c.2581C>T (p.His861Tyr)
|
rs759265754
|
0.00001
|
|
NM_014363.6(SACS):c.2585C>T (p.Pro862Leu)
|
rs776290829
|
0.00001
|
|
NM_014363.6(SACS):c.2830T>C (p.Leu944=)
|
rs1348417682
|
0.00001
|
|
NM_014363.6(SACS):c.3017A>G (p.His1006Arg)
|
rs368149368
|
0.00001
|
|
NM_014363.6(SACS):c.3096G>A (p.Glu1032=)
|
rs529746813
|
0.00001
|
|
NM_014363.6(SACS):c.3242C>T (p.Pro1081Leu)
|
rs377493083
|
0.00001
|
|
NM_014363.6(SACS):c.3343G>A (p.Val1115Ile)
|
rs771915442
|
0.00001
|
|
NM_014363.6(SACS):c.3408T>G (p.Asn1136Lys)
|
rs756303420
|
0.00001
|
|
NM_014363.6(SACS):c.3506G>C (p.Gly1169Ala)
|
rs1443000762
|
0.00001
|
|
NM_014363.6(SACS):c.4149T>C (p.His1383=)
|
rs749219225
|
0.00001
|
|
NM_014363.6(SACS):c.4612A>G (p.Ile1538Val)
|
rs544249449
|
0.00001
|
|
NM_014363.6(SACS):c.4639A>T (p.Arg1547Trp)
|
rs772907934
|
0.00001
|
|
NM_014363.6(SACS):c.475T>C (p.Tyr159His)
|
rs1305721973
|
0.00001
|
|
NM_014363.6(SACS):c.4782C>G (p.Asp1594Glu)
|
rs1330036755
|
0.00001
|
|
NM_014363.6(SACS):c.47G>T (p.Gly16Val)
|
rs886050090
|
0.00001
|
|
NM_014363.6(SACS):c.482A>G (p.Asn161Ser)
|
rs746069731
|
0.00001
|
|
NM_014363.6(SACS):c.4840T>C (p.Phe1614Leu)
|
rs771080306
|
0.00001
|
|
NM_014363.6(SACS):c.4846A>C (p.Asn1616His)
|
rs979327782
|
0.00001
|
|
NM_014363.6(SACS):c.4913G>A (p.Ser1638Asn)
|
rs774163551
|
0.00001
|
|
NM_014363.6(SACS):c.4963A>G (p.Lys1655Glu)
|
rs1035497308
|
0.00001
|
|
NM_014363.6(SACS):c.5045G>A (p.Arg1682Lys)
|
rs1269546947
|
0.00001
|
|
NM_014363.6(SACS):c.5060C>T (p.Thr1687Ile)
|
rs776656956
|
0.00001
|
|
NM_014363.6(SACS):c.5064G>A (p.Gln1688=)
|
rs760628805
|
0.00001
|
|
NM_014363.6(SACS):c.5732C>T (p.Thr1911Met)
|
rs368494148
|
0.00001
|
|
NM_014363.6(SACS):c.5848G>A (p.Asp1950Asn)
|
rs370902090
|
0.00001
|
|
NM_014363.6(SACS):c.5930A>G (p.Lys1977Arg)
|
rs774492331
|
0.00001
|
|
NM_014363.6(SACS):c.593A>G (p.Tyr198Cys)
|
rs1461096954
|
0.00001
|
|
NM_014363.6(SACS):c.5975G>A (p.Arg1992Lys)
|
rs758101602
|
0.00001
|
|
NM_014363.6(SACS):c.598A>G (p.Ile200Val)
|
rs762268076
|
0.00001
|
|
NM_014363.6(SACS):c.6485A>G (p.Asp2162Gly)
|
rs369388933
|
0.00001
|
|
NM_014363.6(SACS):c.6776C>T (p.Pro2259Leu)
|
rs150098233
|
0.00001
|
|
NM_014363.6(SACS):c.6778A>G (p.Ile2260Val)
|
rs202110208
|
0.00001
|
|
NM_014363.6(SACS):c.6857A>G (p.Lys2286Arg)
|
rs754381972
|
0.00001
|
|
NM_014363.6(SACS):c.6993A>T (p.Glu2331Asp)
|
rs759201960
|
0.00001
|
|
NM_014363.6(SACS):c.7100C>T (p.Ala2367Val)
|
rs752273313
|
0.00001
|
|
NM_014363.6(SACS):c.7205_7206del (p.Leu2402fs)
|
rs773182375
|
0.00001
|
|
NM_014363.6(SACS):c.7262T>A (p.Phe2421Tyr)
|
rs1213144547
|
0.00001
|
|
NM_014363.6(SACS):c.7282A>G (p.Ile2428Val)
|
rs1007936574
|
0.00001
|
|
NM_014363.6(SACS):c.7406A>G (p.Asn2469Ser)
|
rs1288769278
|
0.00001
|
|
NM_014363.6(SACS):c.7833G>A (p.Thr2611=)
|
rs1237743096
|
0.00001
|
|
NM_014363.6(SACS):c.7981A>G (p.Ile2661Val)
|
rs1269342975
|
0.00001
|
|
NM_014363.6(SACS):c.8108G>A (p.Arg2703His)
|
rs750181262
|
0.00001
|
|
NM_014363.6(SACS):c.8133G>A (p.Ser2711=)
|
rs143386746
|
0.00001
|
|
NM_014363.6(SACS):c.8141C>T (p.Ser2714Leu)
|
rs762610527
|
0.00001
|
|
NM_014363.6(SACS):c.818T>A (p.Phe273Tyr)
|
rs182864646
|
0.00001
|
|
NM_014363.6(SACS):c.8233G>A (p.Glu2745Lys)
|
rs745462710
|
0.00001
|
|
NM_014363.6(SACS):c.8281G>A (p.Val2761Met)
|
rs372119773
|
0.00001
|
|
NM_014363.6(SACS):c.8356G>C (p.Asp2786His)
|
rs753607639
|
0.00001
|
|
NM_014363.6(SACS):c.83C>T (p.Ser28Phe)
|
rs1365453773
|
0.00001
|
|
NM_014363.6(SACS):c.8414C>T (p.Thr2805Ile)
|
rs772742353
|
0.00001
|
|
NM_014363.6(SACS):c.8504G>A (p.Ser2835Asn)
|
rs1382975968
|
0.00001
|
|
NM_014363.6(SACS):c.861C>T (p.Tyr287=)
|
rs200877272
|
0.00001
|
|
NM_014363.6(SACS):c.8799T>C (p.Tyr2933=)
|
rs779302353
|
0.00001
|
|
NM_014363.6(SACS):c.8836A>G (p.Asn2946Asp)
|
rs184407783
|
0.00001
|
|
NM_014363.6(SACS):c.8844del (p.Ile2949fs)
|
rs281865117
|
0.00001
|
|
NM_014363.6(SACS):c.8900G>A (p.Arg2967His)
|
rs777753707
|
0.00001
|
|
NM_014363.6(SACS):c.8922A>G (p.Leu2974=)
|
rs563864403
|
0.00001
|
|
NM_014363.6(SACS):c.8931A>G (p.Leu2977=)
|
rs376228714
|
0.00001
|
|
NM_014363.6(SACS):c.9173T>G (p.Leu3058Arg)
|
rs758654165
|
0.00001
|
|
NM_014363.6(SACS):c.9232A>G (p.Asn3078Asp)
|
rs755698899
|
0.00001
|
|
NM_014363.6(SACS):c.9492A>C (p.Gln3164His)
|
rs1025915131
|
0.00001
|
|
NM_014363.6(SACS):c.9677A>G (p.Tyr3226Cys)
|
rs776143384
|
0.00001
|
|
NM_014363.6(SACS):c.9680A>C (p.Lys3227Thr)
|
rs765635417
|
0.00001
|
|
NM_015474.4(SAMHD1):c.1042C>T (p.Arg348Cys)
|
rs761561066
|
0.00001
|
|
NM_015474.4(SAMHD1):c.1222C>T (p.Arg408Cys)
|
rs776994886
|
0.00001
|
|
NM_015474.4(SAMHD1):c.1453C>T (p.Pro485Ser)
|
rs886645360
|
0.00001
|
|
NM_015474.4(SAMHD1):c.1693G>A (p.Ala565Thr)
|
rs779491090
|
0.00001
|
|
NM_015474.4(SAMHD1):c.226G>T (p.Ala76Ser)
|
rs141599277
|
0.00001
|
|
NM_015474.4(SAMHD1):c.254G>A (p.Arg85His)
|
rs1274894909
|
0.00001
|
|
NM_015474.4(SAMHD1):c.290G>A (p.Arg97Lys)
|
rs758586131
|
0.00001
|
|
NM_015474.4(SAMHD1):c.396C>T (p.Leu132=)
|
rs1216724127
|
0.00001
|
|
NM_015474.4(SAMHD1):c.433C>T (p.Arg145Ter)
|
rs121434517
|
0.00001
|
|
NM_015474.4(SAMHD1):c.43T>G (p.Cys15Gly)
|
rs1235922763
|
0.00001
|
|
NM_015474.4(SAMHD1):c.464A>G (p.Tyr155Cys)
|
rs1306109528
|
0.00001
|
|
NM_015474.4(SAMHD1):c.490C>T (p.Arg164Ter)
|
rs267607027
|
0.00001
|
|
NM_015474.4(SAMHD1):c.509+1G>A
|
rs1192315307
|
0.00001
|
|
NM_015474.4(SAMHD1):c.541G>A (p.Ala181Thr)
|
rs1455837248
|
0.00001
|
|
NM_015474.4(SAMHD1):c.546G>A (p.Leu182=)
|
rs748150321
|
0.00001
|
|
NM_015474.4(SAMHD1):c.562G>C (p.Glu188Gln)
|
rs781223072
|
0.00001
|
|
NM_015474.4(SAMHD1):c.610C>T (p.Leu204Phe)
|
rs1053324143
|
0.00001
|
|
NM_015474.4(SAMHD1):c.696G>T (p.Thr232=)
|
rs763408711
|
0.00001
|
|
NM_015474.4(SAMHD1):c.733A>G (p.Ile245Val)
|
rs754150741
|
0.00001
|
|
NM_015474.4(SAMHD1):c.8G>T (p.Arg3Leu)
|
rs551472065
|
0.00001
|
|
NM_015474.4(SAMHD1):c.901G>C (p.Val301Leu)
|
rs1300702859
|
0.00001
|
|
NM_015474.4(SAMHD1):c.998G>A (p.Arg333His)
|
rs755046462
|
0.00001
|
|
NM_015702.3(MMADHC):c.152T>C (p.Ile51Thr)
|
rs755472574
|
0.00001
|
|
NM_015702.3(MMADHC):c.41A>G (p.Tyr14Cys)
|
rs756550492
|
0.00001
|
|
NM_015702.3(MMADHC):c.585T>C (p.Ile195=)
|
rs757784250
|
0.00001
|
|
NM_015702.3(MMADHC):c.742C>T (p.Arg248Cys)
|
rs544727246
|
0.00001
|
|
NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys)
|
rs118204046
|
0.00001
|
|
NM_015702.3(MMADHC):c.855A>T (p.Pro285=)
|
rs768988562
|
0.00001
|
|
NM_022124.6(CDH23):c.10027G>A (p.Val3343Met)
|
rs756425157
|
0.00001
|
|
NM_022124.6(CDH23):c.1141-12C>T
|
rs769964522
|
0.00001
|
|
NM_022124.6(CDH23):c.1276C>T (p.Arg426Cys)
|
rs373674747
|
0.00001
|
|
NM_022124.6(CDH23):c.1281C>T (p.Tyr427=)
|
rs1349593079
|
0.00001
|
|
NM_022124.6(CDH23):c.1305G>C (p.Glu435Asp)
|
rs770510708
|
0.00001
|
|
NM_022124.6(CDH23):c.1478G>A (p.Gly493Glu)
|
rs397517308
|
0.00001
|
|
NM_022124.6(CDH23):c.1502A>G (p.Asp501Gly)
|
rs763437495
|
0.00001
|
|
NM_022124.6(CDH23):c.1516T>C (p.Phe506Leu)
|
rs1864419966
|
0.00001
|
|
NM_022124.6(CDH23):c.1583G>A (p.Arg528His)
|
rs761468283
|
0.00001
|
|
NM_022124.6(CDH23):c.1652T>G (p.Val551Gly)
|
rs1251632622
|
0.00001
|
|
NM_022124.6(CDH23):c.1660G>A (p.Val554Ile)
|
rs727504910
|
0.00001
|
|
NM_022124.6(CDH23):c.1678A>G (p.Thr560Ala)
|
rs767986806
|
0.00001
|
|
NM_022124.6(CDH23):c.1766A>T (p.Asp589Val)
|
rs753165881
|
0.00001
|
|
NM_022124.6(CDH23):c.1847A>G (p.Glu616Gly)
|
rs763577236
|
0.00001
|
|
NM_022124.6(CDH23):c.1859T>C (p.Val620Ala)
|
rs775889210
|
0.00001
|
|
NM_022124.6(CDH23):c.1874G>A (p.Arg625His)
|
rs200907423
|
0.00001
|
|
NM_022124.6(CDH23):c.190C>T (p.Pro64Ser)
|
rs1297166820
|
0.00001
|
|
NM_022124.6(CDH23):c.1990G>A (p.Glu664Lys)
|
rs536056315
|
0.00001
|
|
NM_022124.6(CDH23):c.2008A>T (p.Thr670Ser)
|
rs1304555485
|
0.00001
|
|
NM_022124.6(CDH23):c.2059+10C>T
|
rs748415078
|
0.00001
|
|
NM_022124.6(CDH23):c.208T>G (p.Ser70Ala)
|
rs1853877616
|
0.00001
|
|
NM_022124.6(CDH23):c.2104C>T (p.Arg702Trp)
|
rs528779319
|
0.00001
|
|
NM_022124.6(CDH23):c.2122T>G (p.Ser708Ala)
|
rs764332602
|
0.00001
|
|
NM_022124.6(CDH23):c.2125A>G (p.Ile709Val)
|
rs754027345
|
0.00001
|
|
NM_022124.6(CDH23):c.2170C>G (p.Arg724Gly)
|
rs769571318
|
0.00001
|
|
NM_022124.6(CDH23):c.2189C>T (p.Thr730Ile)
|
rs755812129
|
0.00001
|
|
NM_022124.6(CDH23):c.2283C>T (p.Ile761=)
|
rs267602568
|
0.00001
|
|
NM_022124.6(CDH23):c.2289+1G>A
|
rs769433759
|
0.00001
|
|
NM_022124.6(CDH23):c.234T>G (p.Phe78Leu)
|
rs562521392
|
0.00001
|
|
NM_022124.6(CDH23):c.2462A>G (p.Asn821Ser)
|
rs774080275
|
0.00001
|
|
NM_022124.6(CDH23):c.2561G>A (p.Arg854His)
|
rs1283888780
|
0.00001
|
|
NM_022124.6(CDH23):c.268C>T (p.Arg90Trp)
|
rs1064794990
|
0.00001
|
|
NM_022124.6(CDH23):c.2692G>A (p.Glu898Lys)
|
rs1013565672
|
0.00001
|
|
NM_022124.6(CDH23):c.2712G>A (p.Pro904=)
|
rs570110527
|
0.00001
|
|
NM_022124.6(CDH23):c.2715G>A (p.Ala905=)
|
rs759903345
|
0.00001
|
|
NM_022124.6(CDH23):c.2803C>T (p.Arg935Cys)
|
rs758451585
|
0.00001
|
|
NM_022124.6(CDH23):c.2836G>A (p.Val946Met)
|
rs931850625
|
0.00001
|
|
NM_022124.6(CDH23):c.2840T>A (p.Val947Glu)
|
rs397517318
|
0.00001
|
|
NM_022124.6(CDH23):c.2870G>A (p.Arg957His)
|
rs748047907
|
0.00001
|
|
NM_022124.6(CDH23):c.2890C>T (p.Arg964Trp)
|
rs768031780
|
0.00001
|
|
NM_022124.6(CDH23):c.2968G>A (p.Asp990Asn)
|
rs771766431
|
0.00001
|
|
NM_022124.6(CDH23):c.2971G>A (p.Glu991Lys)
|
rs551073659
|
0.00001
|
|
NM_022124.6(CDH23):c.2975C>T (p.Thr992Met)
|
rs765270590
|
0.00001
|
|
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys)
|
rs745571683
|
0.00001
|
|
NM_022124.6(CDH23):c.3035T>C (p.Phe1012Ser)
|
rs774623499
|
0.00001
|
|
NM_022124.6(CDH23):c.3092G>C (p.Ser1031Thr)
|
rs397517320
|
0.00001
|
|
NM_022124.6(CDH23):c.3143G>A (p.Arg1048His)
|
rs747839724
|
0.00001
|
|
NM_022124.6(CDH23):c.3163G>A (p.Val1055Met)
|
rs747028795
|
0.00001
|
|
NM_022124.6(CDH23):c.3192C>T (p.Ala1064=)
|
rs767119185
|
0.00001
|
|
NM_022124.6(CDH23):c.3305T>A (p.Phe1102Tyr)
|
rs369002480
|
0.00001
|
|
NM_022124.6(CDH23):c.3337G>C (p.Glu1113Gln)
|
rs397517322
|
0.00001
|
|
NM_022124.6(CDH23):c.3445A>G (p.Asn1149Asp)
|
rs754128851
|
0.00001
|
|
NM_022124.6(CDH23):c.3467A>G (p.Asn1156Ser)
|
rs375367387
|
0.00001
|
|
NM_022124.6(CDH23):c.3491G>A (p.Arg1164Gln)
|
rs760170584
|
0.00001
|
|
NM_022124.6(CDH23):c.3493C>T (p.Pro1165Ser)
|
rs373622821
|
0.00001
|
|
NM_022124.6(CDH23):c.3503G>A (p.Arg1168Gln)
|
rs727502925
|
0.00001
|
|
NM_022124.6(CDH23):c.3522C>T (p.His1174=)
|
rs750705577
|
0.00001
|
|
NM_022124.6(CDH23):c.3579+3G>A
|
rs761976651
|
0.00001
|
|
NM_022124.6(CDH23):c.3820G>A (p.Glu1274Lys)
|
rs775540526
|
0.00001
|
|
NM_022124.6(CDH23):c.3925G>A (p.Glu1309Lys)
|
rs111033468
|
0.00001
|
|
NM_022124.6(CDH23):c.4011C>A (p.Ala1337=)
|
rs761003107
|
0.00001
|
|
NM_022124.6(CDH23):c.4070A>G (p.Gln1357Arg)
|
rs1038949759
|
0.00001
|
|
NM_022124.6(CDH23):c.4096G>A (p.Ala1366Thr)
|
rs1166886985
|
0.00001
|
|
NM_022124.6(CDH23):c.4116A>G (p.Thr1372=)
|
rs369188108
|
0.00001
|
|
NM_022124.6(CDH23):c.4206+1G>A
|
rs1204500829
|
0.00001
|
|
NM_022124.6(CDH23):c.4231G>A (p.Glu1411Lys)
|
rs375057273
|
0.00001
|
|
NM_022124.6(CDH23):c.4359G>C (p.Gln1453His)
|
rs1435336806
|
0.00001
|
|
NM_022124.6(CDH23):c.4425C>T (p.Ser1475=)
|
rs554295504
|
0.00001
|
|
NM_022124.6(CDH23):c.4427T>C (p.Ile1476Thr)
|
rs1197884550
|
0.00001
|
|
NM_022124.6(CDH23):c.4519C>T (p.Arg1507Trp)
|
rs760927863
|
0.00001
|
|
NM_022124.6(CDH23):c.4536C>A (p.Ile1512=)
|
rs191759543
|
0.00001
|
|
NM_022124.6(CDH23):c.4662C>A (p.Asp1554Glu)
|
rs771353319
|
0.00001
|
|
NM_022124.6(CDH23):c.4663C>T (p.Arg1555Cys)
|
rs773842427
|
0.00001
|
|
NM_022124.6(CDH23):c.4694A>C (p.Tyr1565Ser)
|
rs727504606
|
0.00001
|
|
NM_022124.6(CDH23):c.4729C>T (p.Arg1577Cys)
|
rs893684931
|
0.00001
|
|
NM_022124.6(CDH23):c.4730G>A (p.Arg1577His)
|
rs771464282
|
0.00001
|
|
NM_022124.6(CDH23):c.4746C>T (p.Ser1582=)
|
rs370132610
|
0.00001
|
|
NM_022124.6(CDH23):c.4781G>A (p.Arg1594His)
|
rs368368136
|
0.00001
|
|
NM_022124.6(CDH23):c.478G>A (p.Asp160Asn)
|
rs1057519500
|
0.00001
|
|
NM_022124.6(CDH23):c.4793G>A (p.Ser1598Asn)
|
rs1268713495
|
0.00001
|
|
NM_022124.6(CDH23):c.4873G>A (p.Val1625Met)
|
rs1180197801
|
0.00001
|
|
NM_022124.6(CDH23):c.4884T>C (p.Asn1628=)
|
rs777745599
|
0.00001
|
|
NM_022124.6(CDH23):c.5112C>T (p.His1704=)
|
rs774919846
|
0.00001
|
|
NM_022124.6(CDH23):c.5132T>C (p.Val1711Ala)
|
rs762613557
|
0.00001
|
|
NM_022124.6(CDH23):c.5179A>G (p.Thr1727Ala)
|
rs762005355
|
0.00001
|
|
NM_022124.6(CDH23):c.5186C>T (p.Thr1729Met)
|
rs545173038
|
0.00001
|
|
NM_022124.6(CDH23):c.5187+4G>A
|
rs752015536
|
0.00001
|
|
NM_022124.6(CDH23):c.523T>C (p.Ser175Pro)
|
rs756340333
|
0.00001
|
|
NM_022124.6(CDH23):c.5353G>A (p.Asp1785Asn)
|
rs397517338
|
0.00001
|
|
NM_022124.6(CDH23):c.5518C>T (p.Arg1840Trp)
|
rs145951744
|
0.00001
|
|
NM_022124.6(CDH23):c.5676G>A (p.Ala1892=)
|
rs774305066
|
0.00001
|
|
NM_022124.6(CDH23):c.5683C>T (p.Arg1895Cys)
|
rs201490610
|
0.00001
|
|
NM_022124.6(CDH23):c.5712G>A (p.Thr1904=)
|
rs397517342
|
0.00001
|
|
NM_022124.6(CDH23):c.5719A>T (p.Ile1907Phe)
|
rs755582881
|
0.00001
|
|
NM_022124.6(CDH23):c.5743G>A (p.Asp1915Asn)
|
rs772117059
|
0.00001
|
|
NM_022124.6(CDH23):c.5945A>G (p.Asn1982Ser)
|
rs555432123
|
0.00001
|
|
NM_022124.6(CDH23):c.6227T>C (p.Val2076Ala)
|
rs773607597
|
0.00001
|
|
NM_022124.6(CDH23):c.6253+5G>A
|
rs1748135455
|
0.00001
|
|
NM_022124.6(CDH23):c.6292A>G (p.Ser2098Gly)
|
rs375699270
|
0.00001
|
|
NM_022124.6(CDH23):c.6340G>A (p.Asp2114Asn)
|
rs977083222
|
0.00001
|
|
NM_022124.6(CDH23):c.6367G>A (p.Gly2123Arg)
|
rs727504894
|
0.00001
|
|
NM_022124.6(CDH23):c.6465G>A (p.Ser2155=)
|
rs373462599
|
0.00001
|
|
NM_022124.6(CDH23):c.6562G>A (p.Glu2188Lys)
|
rs1444432865
|
0.00001
|
|
NM_022124.6(CDH23):c.662A>C (p.Asn221Thr)
|
rs766721575
|
0.00001
|
|
NM_022124.6(CDH23):c.6664C>T (p.Arg2222Cys)
|
rs761082272
|
0.00001
|
|
NM_022124.6(CDH23):c.6680A>C (p.Gln2227Pro)
|
rs778453484
|
0.00001
|
|
NM_022124.6(CDH23):c.6689C>G (p.Ala2230Gly)
|
rs779637927
|
0.00001
|
|
NM_022124.6(CDH23):c.6707A>G (p.Asn2236Ser)
|
rs545514111
|
0.00001
|
|
NM_022124.6(CDH23):c.6829+3A>G
|
rs780258798
|
0.00001
|
|
NM_022124.6(CDH23):c.6856G>A (p.Val2286Ile)
|
rs548373542
|
0.00001
|
|
NM_022124.6(CDH23):c.6959C>T (p.Ala2320Val)
|
rs748864889
|
0.00001
|
|
NM_022124.6(CDH23):c.6980T>A (p.Leu2327His)
|
rs995094571
|
0.00001
|
|
NM_022124.6(CDH23):c.7086C>T (p.Tyr2362=)
|
rs1287792582
|
0.00001
|
|
NM_022124.6(CDH23):c.7087G>A (p.Glu2363Lys)
|
rs753690054
|
0.00001
|
|
NM_022124.6(CDH23):c.7131C>T (p.Asn2377=)
|
rs369805384
|
0.00001
|
|
NM_022124.6(CDH23):c.7132G>A (p.Gly2378Arg)
|
rs181197242
|
0.00001
|
|
NM_022124.6(CDH23):c.719C>T (p.Pro240Leu)
|
rs121908354
|
0.00001
|
|
NM_022124.6(CDH23):c.7382C>T (p.Ser2461Phe)
|
rs373823262
|
0.00001
|
|
NM_022124.6(CDH23):c.7399A>G (p.Lys2467Glu)
|
rs762446057
|
0.00001
|
|
NM_022124.6(CDH23):c.7517G>A (p.Arg2506Gln)
|
rs727502932
|
0.00001
|
|
NM_022124.6(CDH23):c.7685C>T (p.Ser2562Leu)
|
rs538435711
|
0.00001
|
|
NM_022124.6(CDH23):c.777C>A (p.Thr259=)
|
rs542798557
|
0.00001
|
|
NM_022124.6(CDH23):c.7834G>T (p.Val2612Leu)
|
rs1274482381
|
0.00001
|
|
NM_022124.6(CDH23):c.7893C>T (p.Asn2631=)
|
rs377121007
|
0.00001
|
|
NM_022124.6(CDH23):c.8113A>G (p.Met2705Val)
|
rs747249307
|
0.00001
|
|
NM_022124.6(CDH23):c.8317G>A (p.Glu2773Lys)
|
rs765697060
|
0.00001
|
|
NM_022124.6(CDH23):c.8404A>G (p.Ile2802Val)
|
rs766924822
|
0.00001
|
|
NM_022124.6(CDH23):c.8406C>T (p.Ile2802=)
|
rs752125151
|
0.00001
|
|
NM_022124.6(CDH23):c.8425C>T (p.Arg2809Cys)
|
rs777428282
|
0.00001
|
|
NM_022124.6(CDH23):c.8443C>T (p.Arg2815Cys)
|
rs768583951
|
0.00001
|
|
NM_022124.6(CDH23):c.8726G>A (p.Ser2909Asn)
|
rs397517361
|
0.00001
|
|
NM_022124.6(CDH23):c.874G>A (p.Val292Met)
|
rs1437430893
|
0.00001
|
|
NM_022124.6(CDH23):c.8803C>T (p.Arg2935Ter)
|
rs1190307769
|
0.00001
|
|
NM_022124.6(CDH23):c.8957T>C (p.Ile2986Thr)
|
rs753997469
|
0.00001
|
|
NM_022124.6(CDH23):c.8G>A (p.Arg3His)
|
rs397517363
|
0.00001
|
|
NM_022124.6(CDH23):c.901C>T (p.Arg301Trp)
|
rs397517364
|
0.00001
|
|
NM_022124.6(CDH23):c.9094G>A (p.Asp3032Asn)
|
rs368603948
|
0.00001
|
|
NM_022124.6(CDH23):c.9139G>A (p.Val3047Ile)
|
rs558094423
|
0.00001
|
|
NM_022124.6(CDH23):c.9185T>C (p.Met3062Thr)
|
rs770888523
|
0.00001
|
|
NM_022124.6(CDH23):c.9198+7G>A
|
rs761980521
|
0.00001
|
|
NM_022124.6(CDH23):c.9234G>A (p.Leu3078=)
|
rs952277066
|
0.00001
|
|
NM_022124.6(CDH23):c.9237C>T (p.Ala3079=)
|
rs753289128
|
0.00001
|
|
NM_022124.6(CDH23):c.9264G>C (p.Trp3088Cys)
|
rs876657759
|
0.00001
|
|
NM_022124.6(CDH23):c.9349A>G (p.Met3117Val)
|
rs1041158603
|
0.00001
|
|
NM_022124.6(CDH23):c.9503G>A (p.Arg3168His)
|
rs754557923
|
0.00001
|
|
NM_022124.6(CDH23):c.9775C>T (p.His3259Tyr)
|
rs1064795569
|
0.00001
|
|
NM_022124.6(CDH23):c.9860G>A (p.Gly3287Asp)
|
rs562590210
|
0.00001
|
|
NM_022124.6(CDH23):c.9870C>A (p.Gly3290=)
|
rs370265254
|
0.00001
|
|
NM_022124.6(CDH23):c.9886G>A (p.Asp3296Asn)
|
rs372388344
|
0.00001
|
|
NM_022124.6(CDH23):c.997A>T (p.Thr333Ser)
|
rs371005464
|
0.00001
|
|
NM_022124.6(CDH23):c.9980C>T (p.Ala3327Val)
|
rs1393090121
|
0.00001
|
|
NM_024301.5(FKRP):c.1019A>T (p.Tyr340Phe)
|
rs1322997651
|
0.00001
|
|
NM_024301.5(FKRP):c.106G>T (p.Ala36Ser)
|
rs1412050261
|
0.00001
|
|
NM_024301.5(FKRP):c.1117G>A (p.Gly373Ser)
|
rs1184684815
|
0.00001
|
|
NM_024301.5(FKRP):c.1139G>A (p.Gly380Glu)
|
rs751586523
|
0.00001
|
|
NM_024301.5(FKRP):c.1167G>A (p.Glu389=)
|
rs771708277
|
0.00001
|
|
NM_024301.5(FKRP):c.1190C>T (p.Ala397Val)
|
rs767570224
|
0.00001
|
|
NM_024301.5(FKRP):c.1192G>A (p.Val398Ile)
|
rs1471167981
|
0.00001
|
|
NM_024301.5(FKRP):c.1271A>G (p.Asn424Ser)
|
rs376989573
|
0.00001
|
|
NM_024301.5(FKRP):c.1363G>T (p.Ala455Ser)
|
rs747785577
|
0.00001
|
|
NM_024301.5(FKRP):c.1397G>A (p.Arg466His)
|
rs763422045
|
0.00001
|
|
NM_024301.5(FKRP):c.1436A>G (p.Glu479Gly)
|
rs1555739297
|
0.00001
|
|
NM_024301.5(FKRP):c.1477G>A (p.Gly493Arg)
|
rs763299165
|
0.00001
|
|
NM_024301.5(FKRP):c.1486T>A (p.Ter496Arg)
|
rs104894682
|
0.00001
|
|
NM_024301.5(FKRP):c.151G>A (p.Val51Ile)
|
rs769377092
|
0.00001
|
|
NM_024301.5(FKRP):c.172G>A (p.Ala58Thr)
|
rs751506122
|
0.00001
|
|
NM_024301.5(FKRP):c.178G>T (p.Asp60Tyr)
|
rs1311501368
|
0.00001
|
|
NM_024301.5(FKRP):c.205T>C (p.Ser69Pro)
|
rs990847012
|
0.00001
|
|
NM_024301.5(FKRP):c.298C>T (p.Arg100Cys)
|
rs1244445645
|
0.00001
|
|
NM_024301.5(FKRP):c.299G>A (p.Arg100His)
|
rs1174581828
|
0.00001
|
|
NM_024301.5(FKRP):c.315G>T (p.Gln105His)
|
rs765444642
|
0.00001
|
|
NM_024301.5(FKRP):c.316C>T (p.Pro106Ser)
|
rs1164727838
|
0.00001
|
|
NM_024301.5(FKRP):c.32C>T (p.Ala11Val)
|
rs760295001
|
0.00001
|
|
NM_024301.5(FKRP):c.379G>A (p.Ala127Thr)
|
rs1060502106
|
0.00001
|
|
NM_024301.5(FKRP):c.404C>A (p.Ala135Asp)
|
rs398124392
|
0.00001
|
|
NM_024301.5(FKRP):c.442C>A (p.Leu148Ile)
|
rs1599935206
|
0.00001
|
|
NM_024301.5(FKRP):c.4C>T (p.Arg2Trp)
|
rs748272589
|
0.00001
|
|
NM_024301.5(FKRP):c.517G>A (p.Val173Ile)
|
rs1322879846
|
0.00001
|
|
NM_024301.5(FKRP):c.551C>T (p.Ala184Val)
|
rs1489408026
|
0.00001
|
|
NM_024301.5(FKRP):c.557C>T (p.Pro186Leu)
|
rs745619101
|
0.00001
|
|
NM_024301.5(FKRP):c.582G>A (p.Leu194=)
|
rs771223960
|
0.00001
|
|
NM_024301.5(FKRP):c.677C>A (p.Thr226Asn)
|
rs772380755
|
0.00001
|
|
NM_024301.5(FKRP):c.706C>G (p.Leu236Val)
|
rs754347622
|
0.00001
|
|
NM_024301.5(FKRP):c.794G>T (p.Arg265Leu)
|
rs1320991574
|
0.00001
|
|
NM_024301.5(FKRP):c.809G>A (p.Arg270His)
|
rs1025118379
|
0.00001
|
|
NM_024301.5(FKRP):c.82C>G (p.Gln28Glu)
|
rs1060502110
|
0.00001
|
|
NM_024301.5(FKRP):c.851T>C (p.Leu284Pro)
|
rs1435780847
|
0.00001
|
|
NM_024301.5(FKRP):c.970G>C (p.Glu324Gln)
|
rs886044183
|
0.00001
|
|
NM_024301.5(FKRP):c.976G>A (p.Ala326Thr)
|
rs1201873802
|
0.00001
|
|
NM_024301.5(FKRP):c.982_984del (p.Tyr328del)
|
rs886043458
|
0.00001
|
|
NM_024649.5(BBS1):c.1054A>G (p.Asn352Asp)
|
rs747656068
|
0.00001
|
|
NM_024649.5(BBS1):c.1111-2A>G
|
rs761969357
|
0.00001
|
|
NM_024649.5(BBS1):c.1147C>T (p.Arg383Trp)
|
rs143495423
|
0.00001
|
|
NM_024649.5(BBS1):c.1178G>A (p.Arg393Gln)
|
rs772235333
|
0.00001
|
|
NM_024649.5(BBS1):c.1181-6C>T
|
rs368445790
|
0.00001
|
|
NM_024649.5(BBS1):c.118del (p.Cys40fs)
|
rs1490351829
|
0.00001
|
|
NM_024649.5(BBS1):c.1310A>T (p.Gln437Leu)
|
rs374356964
|
0.00001
|
|
NM_024649.5(BBS1):c.1318C>T (p.Arg440Ter)
|
rs1014835928
|
0.00001
|
|
NM_024649.5(BBS1):c.1320A>G (p.Arg440=)
|
rs1430151544
|
0.00001
|
|
NM_024649.5(BBS1):c.1395C>T (p.Arg465=)
|
rs756550025
|
0.00001
|
|
NM_024649.5(BBS1):c.1447C>T (p.Arg483Ter)
|
rs745656125
|
0.00001
|
|
NM_024649.5(BBS1):c.1467C>T (p.His489=)
|
rs749008475
|
0.00001
|
|
NM_024649.5(BBS1):c.1514_1515del (p.Leu505fs)
|
rs775769424
|
0.00001
|
|
NM_024649.5(BBS1):c.1528A>G (p.Thr510Ala)
|
rs1856753561
|
0.00001
|
|
NM_024649.5(BBS1):c.157A>G (p.Lys53Glu)
|
rs766602837
|
0.00001
|
|
NM_024649.5(BBS1):c.1762G>A (p.Glu588Lys)
|
rs761304709
|
0.00001
|
|
NM_024649.5(BBS1):c.242C>T (p.Pro81Leu)
|
rs1479663514
|
0.00001
|
|
NM_024649.5(BBS1):c.280A>G (p.Met94Val)
|
rs1376711744
|
0.00001
|
|
NM_024649.5(BBS1):c.433-5C>T
|
rs542052064
|
0.00001
|
|
NM_024649.5(BBS1):c.436C>T (p.Arg146Ter)
|
rs786204444
|
0.00001
|
|
NM_024649.5(BBS1):c.441C>T (p.Ile147=)
|
rs544997496
|
0.00001
|
|
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn)
|
rs200688985
|
0.00001
|
|
NM_024649.5(BBS1):c.509A>G (p.Gln170Arg)
|
rs774163850
|
0.00001
|
|
NM_024649.5(BBS1):c.575A>G (p.Asn192Ser)
|
rs1207942097
|
0.00001
|
|
NM_024649.5(BBS1):c.587G>A (p.Arg196Gln)
|
rs142769864
|
0.00001
|
|
NM_024649.5(BBS1):c.595G>A (p.Val199Ile)
|
rs1300549627
|
0.00001
|
|
NM_024649.5(BBS1):c.646G>A (p.Val216Met)
|
rs764165386
|
0.00001
|
|
NM_024649.5(BBS1):c.708C>G (p.Phe236Leu)
|
rs1482951221
|
0.00001
|
|
NM_024649.5(BBS1):c.723+7G>A
|
rs770220426
|
0.00001
|
|
NM_024649.5(BBS1):c.739G>A (p.Val247Ile)
|
rs763004810
|
0.00001
|
|
NM_024649.5(BBS1):c.742C>A (p.Pro248Thr)
|
rs544315396
|
0.00001
|
|
NM_024649.5(BBS1):c.772G>C (p.Asp258His)
|
rs779297419
|
0.00001
|
|
NM_024649.5(BBS1):c.830+3A>G
|
rs747229201
|
0.00001
|
|
NM_024685.4(BBS10):c.1144G>T (p.Val382Phe)
|
rs775492103
|
0.00001
|
|
NM_024685.4(BBS10):c.1211A>G (p.His404Arg)
|
rs964776134
|
0.00001
|
|
NM_024685.4(BBS10):c.1234G>C (p.Asp412His)
|
rs1413288461
|
0.00001
|
|
NM_024685.4(BBS10):c.1241T>C (p.Leu414Ser)
|
rs786204575
|
0.00001
|
|
NM_024685.4(BBS10):c.1360A>G (p.Ser454Gly)
|
rs933207351
|
0.00001
|
|
NM_024685.4(BBS10):c.1407T>G (p.Tyr469Ter)
|
rs1356713858
|
0.00001
|
|
NM_024685.4(BBS10):c.1678G>A (p.Glu560Lys)
|
rs758489303
|
0.00001
|
|
NM_024685.4(BBS10):c.1975A>T (p.Ile659Leu)
|
rs771355732
|
0.00001
|
|
NM_024685.4(BBS10):c.2004T>G (p.Asn668Lys)
|
rs778614911
|
0.00001
|
|
NM_024685.4(BBS10):c.2048G>A (p.Gly683Asp)
|
rs756069503
|
0.00001
|
|
NM_024685.4(BBS10):c.2142T>G (p.Val714=)
|
rs1463359253
|
0.00001
|
|
NM_024685.4(BBS10):c.2169A>G (p.Leu723=)
|
rs1395342080
|
0.00001
|
|
NM_024685.4(BBS10):c.226C>T (p.Leu76Phe)
|
rs767638924
|
0.00001
|
|
NM_024685.4(BBS10):c.337A>G (p.Ile113Val)
|
rs969686018
|
0.00001
|
|
NM_024685.4(BBS10):c.434T>C (p.Met145Thr)
|
rs144312522
|
0.00001
|
|
NM_024685.4(BBS10):c.483A>G (p.Lys161=)
|
rs748732850
|
0.00001
|
|
NM_024685.4(BBS10):c.583T>G (p.Cys195Gly)
|
rs775747309
|
0.00001
|
|
NM_024685.4(BBS10):c.607A>G (p.Thr203Ala)
|
rs753138845
|
0.00001
|
|
NM_024685.4(BBS10):c.783A>G (p.Thr261=)
|
rs768475584
|
0.00001
|
|
NM_024685.4(BBS10):c.850C>T (p.Gln284Ter)
|
rs758732081
|
0.00001
|
|
NM_025114.4(CEP290):c.1028T>C (p.Leu343Pro)
|
rs1429640081
|
0.00001
|
|
NM_025114.4(CEP290):c.1042A>T (p.Ser348Cys)
|
rs753281190
|
0.00001
|
|
NM_025114.4(CEP290):c.1066-3T>C
|
rs996569804
|
0.00001
|
|
NM_025114.4(CEP290):c.1198A>G (p.Thr400Ala)
|
rs772026871
|
0.00001
|
|
NM_025114.4(CEP290):c.1255A>G (p.Lys419Glu)
|
rs376808205
|
0.00001
|
|
NM_025114.4(CEP290):c.1517G>A (p.Arg506His)
|
rs866571949
|
0.00001
|
|
NM_025114.4(CEP290):c.1626T>G (p.Ile542Met)
|
rs762272190
|
0.00001
|
|
NM_025114.4(CEP290):c.1627G>T (p.Glu543Ter)
|
rs1186821575
|
0.00001
|
|
NM_025114.4(CEP290):c.1645C>T (p.Arg549Ter)
|
rs760415289
|
0.00001
|
|
NM_025114.4(CEP290):c.1711+6C>T
|
rs1285486059
|
0.00001
|
|
NM_025114.4(CEP290):c.1781T>A (p.Leu594Ter)
|
rs371496675
|
0.00001
|
|
NM_025114.4(CEP290):c.1850T>C (p.Ile617Thr)
|
rs776346956
|
0.00001
|
|
NM_025114.4(CEP290):c.1936C>T (p.Gln646Ter)
|
rs780225183
|
0.00001
|
|
NM_025114.4(CEP290):c.1952T>C (p.Met651Thr)
|
rs772165172
|
0.00001
|
|
NM_025114.4(CEP290):c.2068A>C (p.Asn690His)
|
rs398124411
|
0.00001
|
|
NM_025114.4(CEP290):c.2113G>A (p.Val705Ile)
|
rs769216455
|
0.00001
|
|
NM_025114.4(CEP290):c.2168G>A (p.Arg723Gln)
|
rs764117043
|
0.00001
|
|
NM_025114.4(CEP290):c.2414T>C (p.Leu805Pro)
|
rs762633090
|
0.00001
|
|
NM_025114.4(CEP290):c.2423A>G (p.Tyr808Cys)
|
rs773007151
|
0.00001
|
|
NM_025114.4(CEP290):c.2551G>A (p.Val851Ile)
|
rs764963626
|
0.00001
|
|
NM_025114.4(CEP290):c.2587-3C>T
|
rs759025964
|
0.00001
|
|
NM_025114.4(CEP290):c.2587-9T>C
|
rs766982108
|
0.00001
|
|
NM_025114.4(CEP290):c.2839G>T (p.Ala947Ser)
|
rs967541984
|
0.00001
|
|
NM_025114.4(CEP290):c.2873C>T (p.Ser958Phe)
|
rs546463648
|
0.00001
|
|
NM_025114.4(CEP290):c.297+1G>T
|
rs878853360
|
0.00001
|
|
NM_025114.4(CEP290):c.3064C>T (p.His1022Tyr)
|
rs916545578
|
0.00001
|
|
NM_025114.4(CEP290):c.3098A>C (p.Lys1033Thr)
|
rs1421960607
|
0.00001
|
|
NM_025114.4(CEP290):c.3185del (p.Leu1062fs)
|
rs863225189
|
0.00001
|
|
NM_025114.4(CEP290):c.322C>T (p.Arg108Ter)
|
rs1290241933
|
0.00001
|
|
NM_025114.4(CEP290):c.331C>T (p.Arg111Trp)
|
rs1051440600
|
0.00001
|
|
NM_025114.4(CEP290):c.3323A>G (p.Asn1108Ser)
|
rs373207132
|
0.00001
|
|
NM_025114.4(CEP290):c.3420A>G (p.Glu1140=)
|
rs762723146
|
0.00001
|
|
NM_025114.4(CEP290):c.3529G>C (p.Asp1177His)
|
rs1030787885
|
0.00001
|
|
NM_025114.4(CEP290):c.3709C>T (p.Arg1237Cys)
|
rs768864296
|
0.00001
|
|
NM_025114.4(CEP290):c.3731A>G (p.Glu1244Gly)
|
rs1342978055
|
0.00001
|
|
NM_025114.4(CEP290):c.3757C>T (p.Arg1253Cys)
|
rs547677441
|
0.00001
|
|
NM_025114.4(CEP290):c.3802C>T (p.Gln1268Ter)
|
rs1468942944
|
0.00001
|
|
NM_025114.4(CEP290):c.3811C>T (p.Arg1271Ter)
|
rs1412133967
|
0.00001
|
|
NM_025114.4(CEP290):c.3826G>A (p.Gly1276Arg)
|
rs267603712
|
0.00001
|
|
NM_025114.4(CEP290):c.3853A>G (p.Lys1285Glu)
|
rs765521933
|
0.00001
|
|
NM_025114.4(CEP290):c.3858C>A (p.Phe1286Leu)
|
rs1353300022
|
0.00001
|
|
NM_025114.4(CEP290):c.3911T>C (p.Met1304Thr)
|
rs761010723
|
0.00001
|
|
NM_025114.4(CEP290):c.4045A>G (p.Met1349Val)
|
rs923112337
|
0.00001
|
|
NM_025114.4(CEP290):c.4150C>T (p.Arg1384Cys)
|
rs794727563
|
0.00001
|
|
NM_025114.4(CEP290):c.4257C>A (p.Asp1419Glu)
|
rs771898047
|
0.00001
|
|
NM_025114.4(CEP290):c.4288A>C (p.Asn1430His)
|
rs749261915
|
0.00001
|
|
NM_025114.4(CEP290):c.4320A>T (p.Gly1440=)
|
rs372184970
|
0.00001
|
|
NM_025114.4(CEP290):c.4383G>T (p.Lys1461Asn)
|
rs769732992
|
0.00001
|
|
NM_025114.4(CEP290):c.4634T>C (p.Met1545Thr)
|
rs1217427527
|
0.00001
|
|
NM_025114.4(CEP290):c.4681C>T (p.Arg1561Cys)
|
rs763605289
|
0.00001
|
|
NM_025114.4(CEP290):c.4730A>G (p.His1577Arg)
|
rs751352443
|
0.00001
|
|
NM_025114.4(CEP290):c.4812+6A>T
|
rs769525877
|
0.00001
|
|
NM_025114.4(CEP290):c.4817T>C (p.Leu1606Ser)
|
rs767636506
|
0.00001
|
|
NM_025114.4(CEP290):c.4C>T (p.Pro2Ser)
|
rs1064795491
|
0.00001
|
|
NM_025114.4(CEP290):c.5012+2T>C
|
rs1369768287
|
0.00001
|
|
NM_025114.4(CEP290):c.5019A>G (p.Gln1673=)
|
rs1259897302
|
0.00001
|
|
NM_025114.4(CEP290):c.5167A>G (p.Met1723Val)
|
rs542400806
|
0.00001
|
|
NM_025114.4(CEP290):c.521A>T (p.Glu174Val)
|
rs774484028
|
0.00001
|
|
NM_025114.4(CEP290):c.5259A>C (p.Ala1753=)
|
rs747328752
|
0.00001
|
|
NM_025114.4(CEP290):c.5385T>C (p.Asn1795=)
|
rs1452561924
|
0.00001
|
|
NM_025114.4(CEP290):c.5423G>A (p.Ser1808Asn)
|
rs763278328
|
0.00001
|
|
NM_025114.4(CEP290):c.5459A>G (p.Asn1820Ser)
|
rs776980750
|
0.00001
|
|
NM_025114.4(CEP290):c.5523G>A (p.Glu1841=)
|
rs753424189
|
0.00001
|
|
NM_025114.4(CEP290):c.5543A>G (p.Asp1848Gly)
|
rs563967678
|
0.00001
|
|
NM_025114.4(CEP290):c.5587-1G>C
|
rs968692633
|
0.00001
|
|
NM_025114.4(CEP290):c.5885G>A (p.Arg1962Lys)
|
rs562477272
|
0.00001
|
|
NM_025114.4(CEP290):c.6012-2A>G
|
rs555755221
|
0.00001
|
|
NM_025114.4(CEP290):c.6070T>C (p.Tyr2024His)
|
rs745998591
|
0.00001
|
|
NM_025114.4(CEP290):c.6132T>G (p.Pro2044=)
|
rs765002773
|
0.00001
|
|
NM_025114.4(CEP290):c.613C>T (p.Arg205Ter)
|
rs137852835
|
0.00001
|
|
NM_025114.4(CEP290):c.634A>T (p.Asn212Tyr)
|
rs527704077
|
0.00001
|
|
NM_025114.4(CEP290):c.6358-1G>A
|
rs766670248
|
0.00001
|
|
NM_025114.4(CEP290):c.6371G>A (p.Gly2124Glu)
|
rs752851135
|
0.00001
|
|
NM_025114.4(CEP290):c.6547C>T (p.His2183Tyr)
|
rs535765861
|
0.00001
|
|
NM_025114.4(CEP290):c.6599A>G (p.Glu2200Gly)
|
rs779145328
|
0.00001
|
|
NM_025114.4(CEP290):c.6642A>G (p.Lys2214=)
|
rs1409872235
|
0.00001
|
|
NM_025114.4(CEP290):c.6671G>A (p.Arg2224Gln)
|
rs1214939378
|
0.00001
|
|
NM_025114.4(CEP290):c.6778G>C (p.Gly2260Arg)
|
rs371397659
|
0.00001
|
|
NM_025114.4(CEP290):c.6791A>G (p.Lys2264Arg)
|
rs535571590
|
0.00001
|
|
NM_025114.4(CEP290):c.6807T>G (p.Ile2269Met)
|
rs1355908667
|
0.00001
|
|
NM_025114.4(CEP290):c.6941A>G (p.Asn2314Ser)
|
rs148173636
|
0.00001
|
|
NM_025114.4(CEP290):c.7155A>G (p.Ile2385Met)
|
rs770168358
|
0.00001
|
|
NM_025114.4(CEP290):c.722A>G (p.Lys241Arg)
|
rs199790246
|
0.00001
|
|
NM_025114.4(CEP290):c.7240G>A (p.Glu2414Lys)
|
rs1233939358
|
0.00001
|
|
NM_025114.4(CEP290):c.7311G>T (p.Lys2437Asn)
|
rs534440681
|
0.00001
|
|
NM_025114.4(CEP290):c.7333G>A (p.Val2445Ile)
|
rs756042946
|
0.00001
|
|
NM_025114.4(CEP290):c.7372A>G (p.Ser2458Gly)
|
rs762238709
|
0.00001
|
|
NM_025114.4(CEP290):c.787A>G (p.Ile263Val)
|
rs1477583890
|
0.00001
|
|
NM_025114.4(CEP290):c.79A>G (p.Asn27Asp)
|
rs753760503
|
0.00001
|
|
NM_025114.4(CEP290):c.834C>T (p.Asn278=)
|
rs567493515
|
0.00001
|
|
NM_025114.4(CEP290):c.838C>T (p.His280Tyr)
|
rs575493480
|
0.00001
|
|
NM_025114.4(CEP290):c.869A>G (p.Asp290Gly)
|
rs958209779
|
0.00001
|
|
NM_025216.3(WNT10A):c.1162C>T (p.Arg388Cys)
|
rs1186983054
|
0.00001
|
|
NM_025216.3(WNT10A):c.283G>A (p.Glu95Lys)
|
rs318240759
|
0.00001
|
|
NM_025216.3(WNT10A):c.403G>A (p.Ala135Thr)
|
rs1402990329
|
0.00001
|
|
NM_025216.3(WNT10A):c.519G>T (p.Lys173Asn)
|
rs758023820
|
0.00001
|
|
NM_025216.3(WNT10A):c.695G>A (p.Arg232Gln)
|
rs772154760
|
0.00001
|
|
NM_025216.3(WNT10A):c.831G>T (p.Trp277Cys)
|
rs1234227647
|
0.00001
|
|
NM_025216.3(WNT10A):c.891C>G (p.Ala297=)
|
rs748083299
|
0.00001
|
|
NM_025216.3(WNT10A):c.910A>C (p.Asn304His)
|
rs1434390821
|
0.00001
|
|
NM_025216.3(WNT10A):c.957G>T (p.Ser319=)
|
rs774589067
|
0.00001
|
|
NM_031885.5(BBS2):c.1134A>G (p.Pro378=)
|
rs185178790
|
0.00001
|
|
NM_031885.5(BBS2):c.1139A>G (p.Asn380Ser)
|
rs773720173
|
0.00001
|
|
NM_031885.5(BBS2):c.117+5C>T
|
rs1460934723
|
0.00001
|
|
NM_031885.5(BBS2):c.1240G>A (p.Ala414Thr)
|
rs375585469
|
0.00001
|
|
NM_031885.5(BBS2):c.1437T>C (p.Pro479=)
|
rs747415803
|
0.00001
|
|
NM_031885.5(BBS2):c.1438C>T (p.Arg480Ter)
|
rs778090540
|
0.00001
|
|
NM_031885.5(BBS2):c.159T>G (p.Ser53Arg)
|
rs1250423040
|
0.00001
|
|
NM_031885.5(BBS2):c.1673C>T (p.Thr558Ile)
|
rs370581600
|
0.00001
|
|
NM_031885.5(BBS2):c.1759C>T (p.Pro587Ser)
|
rs1288834218
|
0.00001
|
|
NM_031885.5(BBS2):c.175C>T (p.Gln59Ter)
|
rs121908176
|
0.00001
|
|
NM_031885.5(BBS2):c.1808A>G (p.Tyr603Cys)
|
rs752749569
|
0.00001
|
|
NM_031885.5(BBS2):c.184C>G (p.Leu62Val)
|
rs201860939
|
0.00001
|
|
NM_031885.5(BBS2):c.1999G>C (p.Glu667Gln)
|
rs1476749003
|
0.00001
|
|
NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter)
|
rs567573386
|
0.00001
|
|
NM_031885.5(BBS2):c.327G>A (p.Ser109=)
|
rs770497817
|
0.00001
|
|
NM_031885.5(BBS2):c.563del (p.Ile188fs)
|
rs1367927635
|
0.00001
|
|
NM_031885.5(BBS2):c.565C>T (p.Arg189Ter)
|
rs1273181642
|
0.00001
|
|
NM_031885.5(BBS2):c.646C>T (p.Arg216Ter)
|
rs121908180
|
0.00001
|
|
NM_031885.5(BBS2):c.700C>T (p.Arg234Ter)
|
rs779690256
|
0.00001
|
|
NM_031885.5(BBS2):c.718-3C>T
|
rs779134746
|
0.00001
|
|
NM_031885.5(BBS2):c.783A>C (p.Ile261=)
|
rs183982328
|
0.00001
|
|
NM_033056.4(PCDH15):c.4486G>A (p.Ala1496Thr)
|
rs1415736170
|
0.00001
|
|
NM_033056.4(PCDH15):c.4524G>A (p.Lys1508=)
|
rs200141161
|
0.00001
|
|
NM_033056.4(PCDH15):c.4552G>A (p.Asp1518Asn)
|
rs768952458
|
0.00001
|
|
NM_033056.4(PCDH15):c.4719G>A (p.Leu1573=)
|
rs529962978
|
0.00001
|
|
NM_033056.4(PCDH15):c.4770T>C (p.Asn1590=)
|
rs372095792
|
0.00001
|
|
NM_033056.4(PCDH15):c.4846A>G (p.Thr1616Ala)
|
rs751863041
|
0.00001
|
|
NM_033056.4(PCDH15):c.4898_4901dup (p.Glu1635fs)
|
rs748611625
|
0.00001
|
|
NM_033056.4(PCDH15):c.5028T>A (p.Thr1676=)
|
rs775752587
|
0.00001
|
|
NM_033056.4(PCDH15):c.5210C>T (p.Pro1737Leu)
|
rs1339913420
|
0.00001
|
|
NM_033056.4(PCDH15):c.5372C>T (p.Pro1791Leu)
|
rs1268531021
|
0.00001
|
|
NM_033056.4(PCDH15):c.5389C>T (p.Pro1797Ser)
|
rs775203432
|
0.00001
|
|
NM_033056.4(PCDH15):c.5683T>C (p.Ser1895Pro)
|
rs759950014
|
0.00001
|
|
NM_033056.4(PCDH15):c.5690C>G (p.Ala1897Gly)
|
rs774976789
|
0.00001
|
|
NM_033056.4(PCDH15):c.5701A>G (p.Ser1901Gly)
|
rs763251067
|
0.00001
|
|
NM_033056.4(PCDH15):c.5839C>T (p.Gln1947Ter)
|
rs1457208099
|
0.00001
|
|
NM_033056.4(PCDH15):c.5847C>G (p.His1949Gln)
|
rs778841983
|
0.00001
|
|
NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter)
|
rs781368899
|
0.00001
|
|
NM_138694.4(PKHD1):c.10456T>C (p.Leu3486=)
|
rs1466831280
|
0.00001
|
|
NM_138694.4(PKHD1):c.10556T>C (p.Leu3519Pro)
|
rs769773637
|
0.00001
|
|
NM_138694.4(PKHD1):c.10858C>T (p.Arg3620Cys)
|
rs557405366
|
0.00001
|
|
NM_138694.4(PKHD1):c.11314C>T (p.Arg3772Ter)
|
rs199839578
|
0.00001
|
|
NM_138694.4(PKHD1):c.1131T>C (p.Ser377=)
|
rs754777157
|
0.00001
|
|
NM_138694.4(PKHD1):c.11398+2T>C
|
rs754038777
|
0.00001
|
|
NM_138694.4(PKHD1):c.11465G>A (p.Gly3822Glu)
|
rs906560282
|
0.00001
|
|
NM_138694.4(PKHD1):c.11478C>G (p.His3826Gln)
|
rs775097870
|
0.00001
|
|
NM_138694.4(PKHD1):c.11572A>C (p.Thr3858Pro)
|
rs1180404523
|
0.00001
|
|
NM_138694.4(PKHD1):c.11630del (p.Leu3877fs)
|
rs747170980
|
0.00001
|
|
NM_138694.4(PKHD1):c.11754G>T (p.Gly3918=)
|
rs547420174
|
0.00001
|
|
NM_138694.4(PKHD1):c.11775G>T (p.Val3925=)
|
rs1581731432
|
0.00001
|
|
NM_138694.4(PKHD1):c.11844T>C (p.Asn3948=)
|
rs199564783
|
0.00001
|
|
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter)
|
rs144193508
|
0.00001
|
|
NM_138694.4(PKHD1):c.12088C>A (p.Gln4030Lys)
|
rs531466080
|
0.00001
|
|
NM_138694.4(PKHD1):c.12159C>T (p.Ser4053=)
|
rs1186724457
|
0.00001
|
|
NM_138694.4(PKHD1):c.1403G>T (p.Arg468Met)
|
rs765645325
|
0.00001
|
|
NM_138694.4(PKHD1):c.1409G>T (p.Gly470Val)
|
rs776845008
|
0.00001
|
|
NM_138694.4(PKHD1):c.1458C>A (p.Tyr486Ter)
|
rs786204749
|
0.00001
|
|
NM_138694.4(PKHD1):c.1480C>T (p.Arg494Ter)
|
rs754392766
|
0.00001
|
|
NM_138694.4(PKHD1):c.1510C>T (p.Gln504Ter)
|
rs759322460
|
0.00001
|
|
NM_138694.4(PKHD1):c.1690C>T (p.Arg564Ter)
|
rs765251347
|
0.00001
|
|
NM_138694.4(PKHD1):c.1748G>A (p.Cys583Tyr)
|
rs369292828
|
0.00001
|
|
NM_138694.4(PKHD1):c.1760G>T (p.Ser587Ile)
|
rs769095204
|
0.00001
|
|
NM_138694.4(PKHD1):c.1830T>C (p.Tyr610=)
|
rs749293235
|
0.00001
|
|
NM_138694.4(PKHD1):c.1917A>T (p.Val639=)
|
rs1192699542
|
0.00001
|
|
NM_138694.4(PKHD1):c.1929C>A (p.Thr643=)
|
rs775144938
|
0.00001
|
|
NM_138694.4(PKHD1):c.192C>T (p.Asn64=)
|
rs148089143
|
0.00001
|
|
NM_138694.4(PKHD1):c.1964+1G>T
|
rs1385712943
|
0.00001
|
|
NM_138694.4(PKHD1):c.2080G>T (p.Ala694Ser)
|
rs1161554442
|
0.00001
|
|
NM_138694.4(PKHD1):c.210C>T (p.Pro70=)
|
rs372103359
|
0.00001
|
|
NM_138694.4(PKHD1):c.2141-4C>G
|
rs1042054004
|
0.00001
|
|
NM_138694.4(PKHD1):c.2279G>A (p.Arg760His)
|
rs745770404
|
0.00001
|
|
NM_138694.4(PKHD1):c.23T>C (p.Leu8Pro)
|
rs750588859
|
0.00001
|
|
NM_138694.4(PKHD1):c.2518C>G (p.Leu840Val)
|
rs546401927
|
0.00001
|
|
NM_138694.4(PKHD1):c.2638C>T (p.Arg880Cys)
|
rs752646435
|
0.00001
|
|
NM_138694.4(PKHD1):c.2695A>G (p.Thr899Ala)
|
rs922828020
|
0.00001
|
|
NM_138694.4(PKHD1):c.2697T>A (p.Thr899=)
|
rs1562217633
|
0.00001
|
|
NM_138694.4(PKHD1):c.2802T>C (p.His934=)
|
rs1046496759
|
0.00001
|
|
NM_138694.4(PKHD1):c.2811G>A (p.Trp937Ter)
|
rs1344820986
|
0.00001
|
|
NM_138694.4(PKHD1):c.2864T>G (p.Phe955Cys)
|
rs777158800
|
0.00001
|
|
NM_138694.4(PKHD1):c.3073G>C (p.Glu1025Gln)
|
rs899785229
|
0.00001
|
|
NM_138694.4(PKHD1):c.3171T>C (p.Cys1057=)
|
rs745329565
|
0.00001
|
|
NM_138694.4(PKHD1):c.3288T>C (p.Leu1096=)
|
rs751889282
|
0.00001
|
|
NM_138694.4(PKHD1):c.3444C>T (p.Ala1148=)
|
rs768475335
|
0.00001
|
|
NM_138694.4(PKHD1):c.3462A>G (p.Thr1154=)
|
rs758231968
|
0.00001
|
|
NM_138694.4(PKHD1):c.3536A>G (p.Asn1179Ser)
|
rs747233443
|
0.00001
|
|
NM_138694.4(PKHD1):c.3547A>G (p.Ile1183Val)
|
rs746874144
|
0.00001
|
|
NM_138694.4(PKHD1):c.370C>T (p.Arg124Ter)
|
rs727504096
|
0.00001
|
|
NM_138694.4(PKHD1):c.3728C>A (p.Thr1243Lys)
|
rs774865280
|
0.00001
|
|
NM_138694.4(PKHD1):c.3747T>G (p.Cys1249Trp)
|
rs748540413
|
0.00001
|
|
NM_138694.4(PKHD1):c.3774C>T (p.Pro1258=)
|
rs765696714
|
0.00001
|
|
NM_138694.4(PKHD1):c.381T>C (p.Cys127=)
|
rs755926109
|
0.00001
|
|
NM_138694.4(PKHD1):c.3897A>C (p.Ala1299=)
|
rs1581812316
|
0.00001
|
|
NM_138694.4(PKHD1):c.414C>T (p.Ile138=)
|
rs368595925
|
0.00001
|
|
NM_138694.4(PKHD1):c.4190C>T (p.Ser1397Leu)
|
rs778541098
|
0.00001
|
|
NM_138694.4(PKHD1):c.4204T>C (p.Cys1402Arg)
|
rs759930967
|
0.00001
|
|
NM_138694.4(PKHD1):c.4224T>C (p.Thr1408=)
|
rs1348053835
|
0.00001
|
|
NM_138694.4(PKHD1):c.428A>G (p.Tyr143Cys)
|
rs141093030
|
0.00001
|
|
NM_138694.4(PKHD1):c.4513A>G (p.Arg1505Gly)
|
rs1271610315
|
0.00001
|
|
NM_138694.4(PKHD1):c.4529C>A (p.Ala1510Asp)
|
rs758834151
|
0.00001
|
|
NM_138694.4(PKHD1):c.4647C>T (p.Tyr1549=)
|
rs761341768
|
0.00001
|
|
NM_138694.4(PKHD1):c.470G>A (p.Gly157Asp)
|
rs1278235097
|
0.00001
|
|
NM_138694.4(PKHD1):c.474G>A (p.Trp158Ter)
|
rs1350620976
|
0.00001
|
|
NM_138694.4(PKHD1):c.4904C>T (p.Ala1635Val)
|
rs1270680534
|
0.00001
|
|
NM_138694.4(PKHD1):c.494A>C (p.Glu165Ala)
|
rs1302500833
|
0.00001
|
|
NM_138694.4(PKHD1):c.5060T>C (p.Ile1687Thr)
|
rs794727566
|
0.00001
|
|
NM_138694.4(PKHD1):c.5226G>A (p.Thr1742=)
|
rs747933439
|
0.00001
|
|
NM_138694.4(PKHD1):c.5229G>A (p.Glu1743=)
|
rs768277731
|
0.00001
|
|
NM_138694.4(PKHD1):c.53-1G>A
|
rs775511838
|
0.00001
|
|
NM_138694.4(PKHD1):c.5323C>T (p.Arg1775Ter)
|
rs770522674
|
0.00001
|
|
NM_138694.4(PKHD1):c.5364G>C (p.Leu1788Phe)
|
rs780332791
|
0.00001
|
|
NM_138694.4(PKHD1):c.5485C>T (p.Gln1829Ter)
|
rs774759689
|
0.00001
|
|
NM_138694.4(PKHD1):c.5511C>T (p.Leu1837=)
|
rs1241103975
|
0.00001
|
|
NM_138694.4(PKHD1):c.5556T>C (p.His1852=)
|
rs549418638
|
0.00001
|
|
NM_138694.4(PKHD1):c.5601-8C>T
|
rs578030952
|
0.00001
|
|
NM_138694.4(PKHD1):c.5688G>A (p.Thr1896=)
|
rs1050674532
|
0.00001
|
|
NM_138694.4(PKHD1):c.56G>A (p.Arg19His)
|
rs1375765328
|
0.00001
|
|
NM_138694.4(PKHD1):c.5706C>T (p.Thr1902=)
|
rs755566688
|
0.00001
|
|
NM_138694.4(PKHD1):c.5857T>C (p.Leu1953=)
|
rs1337056978
|
0.00001
|
|
NM_138694.4(PKHD1):c.603-2A>G
|
rs757521428
|
0.00001
|
|
NM_138694.4(PKHD1):c.6054C>T (p.Tyr2018=)
|
rs774944622
|
0.00001
|
|
NM_138694.4(PKHD1):c.6075T>C (p.Tyr2025=)
|
rs199747902
|
0.00001
|
|
NM_138694.4(PKHD1):c.6351A>G (p.Thr2117=)
|
rs766729223
|
0.00001
|
|
NM_138694.4(PKHD1):c.6499C>A (p.Gln2167Lys)
|
rs368263958
|
0.00001
|
|
NM_138694.4(PKHD1):c.6646C>T (p.His2216Tyr)
|
rs1459248210
|
0.00001
|
|
NM_138694.4(PKHD1):c.6789A>G (p.Leu2263=)
|
rs756262878
|
0.00001
|
|
NM_138694.4(PKHD1):c.6808+1G>T
|
rs1217968843
|
0.00001
|
|
NM_138694.4(PKHD1):c.6885T>C (p.Asn2295=)
|
rs749198425
|
0.00001
|
|
NM_138694.4(PKHD1):c.7024G>A (p.Gly2342Ser)
|
rs1554290169
|
0.00001
|
|
NM_138694.4(PKHD1):c.711_714del (p.Met238fs)
|
rs786204588
|
0.00001
|
|
NM_138694.4(PKHD1):c.7177C>T (p.Gln2393Ter)
|
rs1436814142
|
0.00001
|
|
NM_138694.4(PKHD1):c.7284C>T (p.Asp2428=)
|
rs200807210
|
0.00001
|
|
NM_138694.4(PKHD1):c.7292A>T (p.Glu2431Val)
|
rs1280884139
|
0.00001
|
|
NM_138694.4(PKHD1):c.739A>G (p.Ser247Gly)
|
rs747117144
|
0.00001
|
|
NM_138694.4(PKHD1):c.7482A>T (p.Gly2494=)
|
rs199996156
|
0.00001
|
|
NM_138694.4(PKHD1):c.7641A>G (p.Ser2547=)
|
rs771563591
|
0.00001
|
|
NM_138694.4(PKHD1):c.7717C>T (p.Arg2573Cys)
|
rs752994816
|
0.00001
|
|
NM_138694.4(PKHD1):c.7766C>A (p.Thr2589Asn)
|
rs1375719978
|
0.00001
|
|
NM_138694.4(PKHD1):c.7873T>C (p.Leu2625=)
|
rs140033417
|
0.00001
|
|
NM_138694.4(PKHD1):c.7989C>T (p.Asp2663=)
|
rs950565294
|
0.00001
|
|
NM_138694.4(PKHD1):c.8011C>T (p.Arg2671Ter)
|
rs137852947
|
0.00001
|
|
NM_138694.4(PKHD1):c.8012G>A (p.Arg2671Gln)
|
rs778592523
|
0.00001
|
|
NM_138694.4(PKHD1):c.8068T>C (p.Trp2690Arg)
|
rs886061616
|
0.00001
|
|
NM_138694.4(PKHD1):c.8140C>T (p.Arg2714Trp)
|
rs754533251
|
0.00001
|
|
NM_138694.4(PKHD1):c.8206T>G (p.Trp2736Gly)
|
rs764880309
|
0.00001
|
|
NM_138694.4(PKHD1):c.8283T>A (p.Asp2761Glu)
|
rs1381302226
|
0.00001
|
|
NM_138694.4(PKHD1):c.8317G>T (p.Val2773Leu)
|
rs747322128
|
0.00001
|
|
NM_138694.4(PKHD1):c.8390A>G (p.Asn2797Ser)
|
rs369941024
|
0.00001
|
|
NM_138694.4(PKHD1):c.8642+1G>A
|
rs1485161784
|
0.00001
|
|
NM_138694.4(PKHD1):c.8671C>T (p.Arg2891Cys)
|
rs148990124
|
0.00001
|
|
NM_138694.4(PKHD1):c.8679T>C (p.His2893=)
|
rs1229318498
|
0.00001
|
|
NM_138694.4(PKHD1):c.8824C>T (p.Arg2942Ter)
|
rs398124500
|
0.00001
|
|
NM_138694.4(PKHD1):c.8848G>A (p.Val2950Ile)
|
rs768138709
|
0.00001
|
|
NM_138694.4(PKHD1):c.9152T>C (p.Ile3051Thr)
|
rs1374086784
|
0.00001
|
|
NM_138694.4(PKHD1):c.9216G>A (p.Ala3072=)
|
rs764734730
|
0.00001
|
|
NM_138694.4(PKHD1):c.9283G>A (p.Val3095Ile)
|
rs768508521
|
0.00001
|
|
NM_138694.4(PKHD1):c.9296C>A (p.Ser3099Ter)
|
rs757946548
|
0.00001
|
|
NM_138694.4(PKHD1):c.9319C>T (p.Arg3107Ter)
|
rs786204688
|
0.00001
|
|
NM_138694.4(PKHD1):c.9619G>A (p.Ala3207Thr)
|
rs1242089464
|
0.00001
|
|
NM_138694.4(PKHD1):c.977G>T (p.Gly326Val)
|
rs778329699
|
0.00001
|
|
NM_138694.4(PKHD1):c.982C>T (p.Arg328Ter)
|
rs398124503
|
0.00001
|
|
NM_152443.3(RDH12):c.165G>A (p.Thr55=)
|
rs751674066
|
0.00001
|
|
NM_152443.3(RDH12):c.210dup (p.Arg71fs)
|
rs797044761
|
0.00001
|
|
NM_152443.3(RDH12):c.226G>C (p.Gly76Arg)
|
rs368489658
|
0.00001
|
|
NM_152443.3(RDH12):c.277C>T (p.Leu93=)
|
rs143278615
|
0.00001
|
|
NM_152443.3(RDH12):c.302A>G (p.Asp101Gly)
|
rs374675592
|
0.00001
|
|
NM_152443.3(RDH12):c.316C>T (p.Arg106Ter)
|
rs752242512
|
0.00001
|
|
NM_152443.3(RDH12):c.407C>T (p.Thr136Ile)
|
rs1206574200
|
0.00001
|
|
NM_152443.3(RDH12):c.437T>A (p.Val146Asp)
|
rs116649873
|
0.00001
|
|
NM_152443.3(RDH12):c.464C>T (p.Thr155Ile)
|
rs121434337
|
0.00001
|
|
NM_152443.3(RDH12):c.465C>T (p.Thr155=)
|
rs749242059
|
0.00001
|
|
NM_152443.3(RDH12):c.525G>A (p.Ser175=)
|
rs756315539
|
0.00001
|
|
NM_152443.3(RDH12):c.578G>A (p.Arg193His)
|
rs567973980
|
0.00001
|
|
NM_152443.3(RDH12):c.582C>G (p.Tyr194Ter)
|
rs753074829
|
0.00001
|
|
NM_152443.3(RDH12):c.658+7C>T
|
rs762391730
|
0.00001
|
|
NM_152443.3(RDH12):c.709C>G (p.Leu237Val)
|
rs1377743038
|
0.00001
|
|
NM_152443.3(RDH12):c.748C>T (p.Leu250Phe)
|
rs777424197
|
0.00001
|
|
NM_152443.3(RDH12):c.940C>T (p.Arg314Trp)
|
rs773048895
|
0.00001
|
|
NM_152618.3(BBS12):c.104C>A (p.Ser35Ter)
|
rs1381368546
|
0.00001
|
|
NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter)
|
rs121918327
|
0.00001
|
|
NM_152618.3(BBS12):c.1139C>T (p.Thr380Ile)
|
rs752254471
|
0.00001
|
|
NM_152618.3(BBS12):c.1156C>T (p.Arg386Trp)
|
rs202225266
|
0.00001
|
|
NM_152618.3(BBS12):c.1205A>G (p.Gln402Arg)
|
rs763765486
|
0.00001
|
|
NM_152618.3(BBS12):c.1390T>C (p.Cys464Arg)
|
rs373652329
|
0.00001
|
|
NM_152618.3(BBS12):c.1394T>C (p.Val465Ala)
|
rs1357690062
|
0.00001
|
|
NM_152618.3(BBS12):c.1402G>A (p.Gly468Arg)
|
rs144910481
|
0.00001
|
|
NM_152618.3(BBS12):c.1907T>C (p.Ile636Thr)
|
rs748009027
|
0.00001
|
|
NM_152618.3(BBS12):c.191G>A (p.Ser64Asn)
|
rs1361081580
|
0.00001
|
|
NM_152618.3(BBS12):c.191G>C (p.Ser64Thr)
|
rs1361081580
|
0.00001
|
|
NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter)
|
rs752202089
|
0.00001
|
|
NM_152618.3(BBS12):c.243T>C (p.Tyr81=)
|
rs772942987
|
0.00001
|
|
NM_152618.3(BBS12):c.624A>G (p.Ala208=)
|
rs1423331367
|
0.00001
|
|
NM_152618.3(BBS12):c.65T>C (p.Phe22Ser)
|
rs565073445
|
0.00001
|
|
NM_152618.3(BBS12):c.716G>A (p.Arg239Lys)
|
rs1179124061
|
0.00001
|
|
NM_152618.3(BBS12):c.79A>G (p.Arg27Gly)
|
rs752533681
|
0.00001
|
|
NM_152618.3(BBS12):c.801T>A (p.Asp267Glu)
|
rs1183146847
|
0.00001
|
|
NM_152618.3(BBS12):c.865G>C (p.Ala289Pro)
|
rs121918328
|
0.00001
|
|
NM_153676.4(USH1C):c.1101A>G (p.Glu367=)
|
rs764975771
|
0.00001
|
|
NM_153676.4(USH1C):c.1211-1107C>T
|
rs727504667
|
0.00001
|
|
NM_153676.4(USH1C):c.152A>G (p.Asn51Ser)
|
rs775363189
|
0.00001
|
|
NM_153676.4(USH1C):c.164G>A (p.Arg55His)
|
rs1042393529
|
0.00001
|
|
NM_153676.4(USH1C):c.2191C>T (p.Arg731Trp)
|
rs397517874
|
0.00001
|
|
NM_153676.4(USH1C):c.2270G>A (p.Arg757His)
|
rs753703742
|
0.00001
|
|
NM_153676.4(USH1C):c.2288C>T (p.Ser763Phe)
|
rs140313023
|
0.00001
|
|
NM_153676.4(USH1C):c.2311G>A (p.Gly771Ser)
|
rs727505083
|
0.00001
|
|
NM_153676.4(USH1C):c.2321C>T (p.Ser774Phe)
|
rs1309991987
|
0.00001
|
|
NM_153676.4(USH1C):c.2400C>T (p.Asp800=)
|
rs139787873
|
0.00001
|
|
NM_153676.4(USH1C):c.442G>A (p.Glu148Lys)
|
rs747960087
|
0.00001
|
|
NM_153676.4(USH1C):c.497-2del
|
rs1480243085
|
0.00001
|
|
NM_153676.4(USH1C):c.497-3C>A
|
rs958295779
|
0.00001
|
|
NM_153676.4(USH1C):c.538C>G (p.Leu180Val)
|
rs747331051
|
0.00001
|
|
NM_153676.4(USH1C):c.600C>T (p.Gly200=)
|
rs748975874
|
0.00001
|
|
NM_153676.4(USH1C):c.629A>C (p.Lys210Thr)
|
rs372789934
|
0.00001
|
|
NM_153676.4(USH1C):c.870T>A (p.Ala290=)
|
rs765955209
|
0.00001
|
|
NM_153676.4(USH1C):c.907C>T (p.Arg303Trp)
|
rs749821587
|
0.00001
|
|
NM_153676.4(USH1C):c.91C>T (p.Arg31Ter)
|
rs121908370
|
0.00001
|
|
NM_153676.4(USH1C):c.923G>A (p.Arg308Gln)
|
rs763948115
|
0.00001
|
|
NM_153676.4(USH1C):c.928C>T (p.Arg310Cys)
|
rs760448018
|
0.00001
|
|
NM_153676.4(USH1C):c.952C>A (p.Leu318Ile)
|
rs1392006029
|
0.00001
|
|
NM_153717.3(EVC):c.1101C>T (p.Asp367=)
|
rs186537549
|
0.00001
|
|
NM_153717.3(EVC):c.1315+8G>A
|
rs550411377
|
0.00001
|
|
NM_153717.3(EVC):c.1602C>T (p.Phe534=)
|
rs766294209
|
0.00001
|
|
NM_153717.3(EVC):c.1693G>A (p.Ala565Thr)
|
rs926749491
|
0.00001
|
|
NM_153717.3(EVC):c.1717A>G (p.Asn573Asp)
|
rs1373148885
|
0.00001
|
|
NM_153717.3(EVC):c.1777-2A>G
|
rs909612975
|
0.00001
|
|
NM_153717.3(EVC):c.2114A>G (p.Glu705Gly)
|
rs765248751
|
0.00001
|
|
NM_153717.3(EVC):c.2520G>A (p.Thr840=)
|
rs187406722
|
0.00001
|
|
NM_153717.3(EVC):c.2624A>T (p.His875Leu)
|
rs200403160
|
0.00001
|
|
NM_153717.3(EVC):c.2732G>A (p.Arg911Gln)
|
rs930402783
|
0.00001
|
|
NM_153717.3(EVC):c.2894+3A>G
|
rs1424976594
|
0.00001
|
|
NM_153717.3(EVC):c.339C>T (p.Phe113=)
|
rs750461424
|
0.00001
|
|
NM_153717.3(EVC):c.510C>T (p.Asp170=)
|
rs757930422
|
0.00001
|
|
NM_153717.3(EVC):c.568C>T (p.Arg190Cys)
|
rs1286815295
|
0.00001
|
|
NM_153717.3(EVC):c.873dup (p.Glu292Ter)
|
rs527255616
|
0.00001
|
|
NM_153717.3(EVC):c.919T>C (p.Ser307Pro)
|
rs121908426
|
0.00001
|
|
NM_174878.3(CLRN1):c.189C>A (p.Tyr63Ter)
|
rs111033267
|
0.00001
|
|
NM_174878.3(CLRN1):c.270C>G (p.Leu90=)
|
rs143232961
|
0.00001
|
|
NM_174878.3(CLRN1):c.406G>A (p.Gly136Arg)
|
rs904836940
|
0.00001
|
|
NM_174878.3(CLRN1):c.433+10A>G
|
rs752878216
|
0.00001
|
|
NM_174878.3(CLRN1):c.433+1G>A
|
rs201205811
|
0.00001
|
|
NM_174878.3(CLRN1):c.473A>G (p.Glu158Gly)
|
rs369185342
|
0.00001
|
|
NM_174878.3(CLRN1):c.529G>A (p.Val177Ile)
|
rs753739519
|
0.00001
|
|
NM_174878.3(CLRN1):c.540G>A (p.Thr180=)
|
rs774615126
|
0.00001
|
|
NM_174878.3(CLRN1):c.619C>T (p.Arg207Ter)
|
rs373208120
|
0.00001
|
|
NM_174878.3(CLRN1):c.92C>G (p.Pro31Arg)
|
rs374390376
|
0.00001
|
|
NM_201253.3(CRB1):c.1040C>T (p.Pro347Leu)
|
rs765500601
|
0.00001
|
|
NM_201253.3(CRB1):c.1086A>T (p.Gln362His)
|
rs1022182632
|
0.00001
|
|
NM_201253.3(CRB1):c.1172-3C>G
|
rs937310739
|
0.00001
|
|
NM_201253.3(CRB1):c.1206T>C (p.Ser402=)
|
rs373229699
|
0.00001
|
|
NM_201253.3(CRB1):c.1479C>T (p.Phe493=)
|
rs770919155
|
0.00001
|
|
NM_201253.3(CRB1):c.1576C>T (p.Arg526Ter)
|
rs114342808
|
0.00001
|
|
NM_201253.3(CRB1):c.1636A>G (p.Ile546Val)
|
rs745464770
|
0.00001
|
|
NM_201253.3(CRB1):c.1660G>T (p.Val554Leu)
|
rs772386716
|
0.00001
|
|
NM_201253.3(CRB1):c.1752C>T (p.Asp584=)
|
rs750442312
|
0.00001
|
|
NM_201253.3(CRB1):c.1831T>C (p.Ser611Pro)
|
rs769909288
|
0.00001
|
|
NM_201253.3(CRB1):c.1862C>T (p.Thr621Ile)
|
rs1450290360
|
0.00001
|
|
NM_201253.3(CRB1):c.1892A>G (p.Tyr631Cys)
|
rs1271816211
|
0.00001
|
|
NM_201253.3(CRB1):c.1977G>A (p.Ser659=)
|
rs1457627160
|
0.00001
|
|
NM_201253.3(CRB1):c.1995T>C (p.Asn665=)
|
rs774597710
|
0.00001
|
|
NM_201253.3(CRB1):c.207C>T (p.Asn69=)
|
rs1302750453
|
0.00001
|
|
NM_201253.3(CRB1):c.2286T>C (p.Tyr762=)
|
rs1192399919
|
0.00001
|
|
NM_201253.3(CRB1):c.2300T>C (p.Leu767Pro)
|
rs1451348539
|
0.00001
|
|
NM_201253.3(CRB1):c.2404C>T (p.Pro802Ser)
|
rs767723282
|
0.00001
|
|
NM_201253.3(CRB1):c.2563G>A (p.Val855Ile)
|
rs557930078
|
0.00001
|
|
NM_201253.3(CRB1):c.2713C>T (p.Arg905Trp)
|
rs749366098
|
0.00001
|
|
NM_201253.3(CRB1):c.2823G>A (p.Pro941=)
|
rs62645757
|
0.00001
|
|
NM_201253.3(CRB1):c.285G>C (p.Leu95=)
|
rs753898127
|
0.00001
|
|
NM_201253.3(CRB1):c.2889C>A (p.Phe963Leu)
|
rs905306614
|
0.00001
|
|
NM_201253.3(CRB1):c.3042T>C (p.Ser1014=)
|
rs374426440
|
0.00001
|
|
NM_201253.3(CRB1):c.3250G>A (p.Asp1084Asn)
|
rs769059111
|
0.00001
|
|
NM_201253.3(CRB1):c.3306C>T (p.Ile1102=)
|
rs374786358
|
0.00001
|
|
NM_201253.3(CRB1):c.3386C>T (p.Ser1129Phe)
|
rs763011436
|
0.00001
|
|
NM_201253.3(CRB1):c.3613G>A (p.Gly1205Arg)
|
rs574742644
|
0.00001
|
|
NM_201253.3(CRB1):c.3637G>C (p.Val1213Leu)
|
rs759022743
|
0.00001
|
|
NM_201253.3(CRB1):c.3727A>C (p.Asn1243His)
|
rs746774206
|
0.00001
|
|
NM_201253.3(CRB1):c.3997G>A (p.Glu1333Lys)
|
rs137853136
|
0.00001
|
|
NM_201253.3(CRB1):c.4000G>A (p.Val1334Met)
|
rs754862028
|
0.00001
|
|
NM_201253.3(CRB1):c.4043T>C (p.Ile1348Thr)
|
rs774187022
|
0.00001
|
|
NM_201253.3(CRB1):c.4165T>C (p.Ser1389Pro)
|
rs1015110520
|
0.00001
|
|
NM_201253.3(CRB1):c.745G>A (p.Asp249Asn)
|
rs1461964160
|
0.00001
|
|
NM_201253.3(CRB1):c.763C>T (p.Leu255=)
|
rs1659649148
|
0.00001
|
|
NM_201253.3(CRB1):c.892T>C (p.Cys298Arg)
|
rs1412048468
|
0.00001
|
|
NM_201253.3(CRB1):c.957T>C (p.Ser319=)
|
rs765228022
|
0.00001
|
|
NM_201253.3(CRB1):c.976C>T (p.His326Tyr)
|
rs773386179
|
0.00001
|
|
NM_206933.4(USH2A):c.10093C>G (p.Pro3365Ala)
|
rs1661940699
|
0.00001
|
|
NM_206933.4(USH2A):c.10112G>A (p.Cys3371Tyr)
|
rs1661940280
|
0.00001
|
|
NM_206933.4(USH2A):c.10182+5T>C
|
rs1049628868
|
0.00001
|
|
NM_206933.4(USH2A):c.10196G>A (p.Cys3399Tyr)
|
rs765920408
|
0.00001
|
|
NM_206933.4(USH2A):c.10373C>T (p.Thr3458Met)
|
rs149485593
|
0.00001
|
|
NM_206933.4(USH2A):c.1047T>C (p.Asp349=)
|
rs775053681
|
0.00001
|
|
NM_206933.4(USH2A):c.1055C>T (p.Thr352Ile)
|
rs780308389
|
0.00001
|
|
NM_206933.4(USH2A):c.10763G>C (p.Gly3588Ala)
|
rs567356824
|
0.00001
|
|
NM_206933.4(USH2A):c.10834G>A (p.Val3612Ile)
|
rs763125604
|
0.00001
|
|
NM_206933.4(USH2A):c.10854C>T (p.Gly3618=)
|
rs1348201363
|
0.00001
|
|
NM_206933.4(USH2A):c.10859T>C (p.Ile3620Thr)
|
rs779716464
|
0.00001
|
|
NM_206933.4(USH2A):c.10933G>A (p.Val3645Ile)
|
rs397517970
|
0.00001
|
|
NM_206933.4(USH2A):c.10950A>G (p.Pro3650=)
|
rs372690499
|
0.00001
|
|
NM_206933.4(USH2A):c.11155C>T (p.Arg3719Cys)
|
rs758951363
|
0.00001
|
|
NM_206933.4(USH2A):c.1120G>A (p.Asp374Asn)
|
rs753619373
|
0.00001
|
|
NM_206933.4(USH2A):c.11263G>C (p.Gly3755Arg)
|
rs397517971
|
0.00001
|
|
NM_206933.4(USH2A):c.11382A>G (p.Ile3794Met)
|
rs200521328
|
0.00001
|
|
NM_206933.4(USH2A):c.11596G>C (p.Ala3866Pro)
|
rs1571639421
|
0.00001
|
|
NM_206933.4(USH2A):c.11631A>C (p.Ala3877=)
|
rs1318290007
|
0.00001
|
|
NM_206933.4(USH2A):c.1172G>T (p.Ser391Ile)
|
rs949082769
|
0.00001
|
|
NM_206933.4(USH2A):c.11754G>A (p.Trp3918Ter)
|
rs1358947010
|
0.00001
|
|
NM_206933.4(USH2A):c.11956A>G (p.Thr3986Ala)
|
rs727505322
|
0.00001
|
|
NM_206933.4(USH2A):c.12045C>T (p.Thr4015=)
|
rs755924483
|
0.00001
|
|
NM_206933.4(USH2A):c.12067-2A>G
|
rs397517978
|
0.00001
|
|
NM_206933.4(USH2A):c.12149G>A (p.Gly4050Glu)
|
rs867523397
|
0.00001
|
|
NM_206933.4(USH2A):c.12273G>A (p.Met4091Ile)
|
rs751834009
|
0.00001
|
|
NM_206933.4(USH2A):c.12362G>A (p.Arg4121His)
|
rs397517980
|
0.00001
|
|
NM_206933.4(USH2A):c.12369T>C (p.Asp4123=)
|
rs779194517
|
0.00001
|
|
NM_206933.4(USH2A):c.12415G>C (p.Gly4139Arg)
|
rs138866017
|
0.00001
|
|
NM_206933.4(USH2A):c.12448A>G (p.Thr4150Ala)
|
rs1172628170
|
0.00001
|
|
NM_206933.4(USH2A):c.12560G>A (p.Arg4187His)
|
rs147304271
|
0.00001
|
|
NM_206933.4(USH2A):c.12581G>A (p.Cys4194Tyr)
|
rs955434291
|
0.00001
|
|
NM_206933.4(USH2A):c.12585C>T (p.Phe4195=)
|
rs763205825
|
0.00001
|
|
NM_206933.4(USH2A):c.12625G>A (p.Glu4209Lys)
|
rs141943290
|
0.00001
|
|
NM_206933.4(USH2A):c.12640A>G (p.Thr4214Ala)
|
rs145099178
|
0.00001
|
|
NM_206933.4(USH2A):c.12876T>C (p.Asn4292=)
|
rs762246558
|
0.00001
|
|
NM_206933.4(USH2A):c.12929G>A (p.Ser4310Asn)
|
rs1482821042
|
0.00001
|
|
NM_206933.4(USH2A):c.12958G>C (p.Asp4320His)
|
rs140202956
|
0.00001
|
|
NM_206933.4(USH2A):c.12967C>T (p.Leu4323Phe)
|
rs750512832
|
0.00001
|
|
NM_206933.4(USH2A):c.12986A>G (p.Tyr4329Cys)
|
rs371401837
|
0.00001
|
|
NM_206933.4(USH2A):c.12992A>G (p.Tyr4331Cys)
|
rs1423233510
|
0.00001
|
|
NM_206933.4(USH2A):c.13112_13115del (p.Gln4371fs)
|
rs768161313
|
0.00001
|
|
NM_206933.4(USH2A):c.13148A>C (p.Asn4383Thr)
|
rs1418825414
|
0.00001
|
|
NM_206933.4(USH2A):c.13236G>A (p.Gln4412=)
|
rs1013791595
|
0.00001
|
|
NM_206933.4(USH2A):c.1327A>C (p.Asn443His)
|
rs775075026
|
0.00001
|
|
NM_206933.4(USH2A):c.13422C>G (p.Ile4474Met)
|
rs1453273341
|
0.00001
|
|
NM_206933.4(USH2A):c.13430A>G (p.Tyr4477Cys)
|
rs921800139
|
0.00001
|
|
NM_206933.4(USH2A):c.13441A>G (p.Arg4481Gly)
|
rs878853406
|
0.00001
|
|
NM_206933.4(USH2A):c.13483C>T (p.Arg4495Cys)
|
rs746221227
|
0.00001
|
|
NM_206933.4(USH2A):c.13514A>G (p.Tyr4505Cys)
|
rs1268140508
|
0.00001
|
|
NM_206933.4(USH2A):c.13547G>C (p.Gly4516Ala)
|
rs774759345
|
0.00001
|
|
NM_206933.4(USH2A):c.13576C>T (p.Arg4526Ter)
|
rs1003869920
|
0.00001
|
|
NM_206933.4(USH2A):c.13778C>T (p.Ser4593Leu)
|
rs1202573136
|
0.00001
|
|
NM_206933.4(USH2A):c.13870T>G (p.Phe4624Val)
|
rs1369860869
|
0.00001
|
|
NM_206933.4(USH2A):c.13885G>A (p.Glu4629Lys)
|
rs906152033
|
0.00001
|
|
NM_206933.4(USH2A):c.1394C>T (p.Pro465Leu)
|
rs2037663532
|
0.00001
|
|
NM_206933.4(USH2A):c.1397G>T (p.Gly466Val)
|
rs1553250627
|
0.00001
|
|
NM_206933.4(USH2A):c.14086T>C (p.Ser4696Pro)
|
rs751019233
|
0.00001
|
|
NM_206933.4(USH2A):c.14153C>A (p.Ala4718Glu)
|
rs201631375
|
0.00001
|
|
NM_206933.4(USH2A):c.14194C>T (p.Pro4732Ser)
|
rs55838724
|
0.00001
|
|
NM_206933.4(USH2A):c.14335G>A (p.Glu4779Lys)
|
rs769420341
|
0.00001
|
|
NM_206933.4(USH2A):c.14405C>T (p.Ser4802Phe)
|
rs775307880
|
0.00001
|
|
NM_206933.4(USH2A):c.14600A>T (p.His4867Leu)
|
rs374096293
|
0.00001
|
|
NM_206933.4(USH2A):c.14803C>T (p.Arg4935Ter)
|
rs146733615
|
0.00001
|
|
NM_206933.4(USH2A):c.14986A>T (p.Ile4996Phe)
|
rs41308423
|
0.00001
|
|
NM_206933.4(USH2A):c.15142G>A (p.Ala5048Thr)
|
rs371182500
|
0.00001
|
|
NM_206933.4(USH2A):c.15233C>G (p.Pro5078Arg)
|
rs527236122
|
0.00001
|
|
NM_206933.4(USH2A):c.15265T>C (p.Leu5089=)
|
rs746439490
|
0.00001
|
|
NM_206933.4(USH2A):c.15506A>G (p.His5169Arg)
|
rs146085433
|
0.00001
|
|
NM_206933.4(USH2A):c.15580C>T (p.Arg5194Cys)
|
rs751811618
|
0.00001
|
|
NM_206933.4(USH2A):c.1666T>C (p.Tyr556His)
|
rs1222582781
|
0.00001
|
|
NM_206933.4(USH2A):c.1678C>G (p.Pro560Ala)
|
rs147509797
|
0.00001
|
|
NM_206933.4(USH2A):c.1761C>T (p.Asn587=)
|
rs1571668714
|
0.00001
|
|
NM_206933.4(USH2A):c.1841-2A>G
|
rs397518003
|
0.00001
|
|
NM_206933.4(USH2A):c.1876C>T (p.Arg626Ter)
|
rs534534437
|
0.00001
|
|
NM_206933.4(USH2A):c.187C>T (p.Arg63Ter)
|
rs781223647
|
0.00001
|
|
NM_206933.4(USH2A):c.1954A>G (p.Ser652Gly)
|
rs397518005
|
0.00001
|
|
NM_206933.4(USH2A):c.2139C>T (p.Gly713=)
|
rs765293412
|
0.00001
|
|
NM_206933.4(USH2A):c.2167+4C>T
|
rs200638562
|
0.00001
|
|
NM_206933.4(USH2A):c.2168-1G>C
|
rs748961218
|
0.00001
|
|
NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter)
|
rs111033334
|
0.00001
|
|
NM_206933.4(USH2A):c.2296T>C (p.Cys766Arg)
|
rs368687374
|
0.00001
|
|
NM_206933.4(USH2A):c.2304C>A (p.Cys768Ter)
|
rs886039449
|
0.00001
|
|
NM_206933.4(USH2A):c.232T>G (p.Phe78Val)
|
rs775094277
|
0.00001
|
|
NM_206933.4(USH2A):c.2479A>C (p.Asn827His)
|
rs876658114
|
0.00001
|
|
NM_206933.4(USH2A):c.2610C>A (p.Cys870Ter)
|
rs767078782
|
0.00001
|
|
NM_206933.4(USH2A):c.2720C>T (p.Thr907Ile)
|
rs932726287
|
0.00001
|
|
NM_206933.4(USH2A):c.2800T>C (p.Cys934Arg)
|
rs376591221
|
0.00001
|
|
NM_206933.4(USH2A):c.2903G>T (p.Gly968Val)
|
rs1348183693
|
0.00001
|
|
NM_206933.4(USH2A):c.3176C>T (p.Pro1059Leu)
|
rs547581739
|
0.00001
|
|
NM_206933.4(USH2A):c.3309C>A (p.Tyr1103Ter)
|
rs397518011
|
0.00001
|
|
NM_206933.4(USH2A):c.3317-2A>G
|
rs2034951427
|
0.00001
|
|
NM_206933.4(USH2A):c.3405G>C (p.Arg1135Ser)
|
rs372843685
|
0.00001
|
|
NM_206933.4(USH2A):c.3446A>T (p.Glu1149Val)
|
rs1318186049
|
0.00001
|
|
NM_206933.4(USH2A):c.3649G>A (p.Asp1217Asn)
|
rs202247801
|
0.00001
|
|
NM_206933.4(USH2A):c.3664G>A (p.Ala1222Thr)
|
rs761752531
|
0.00001
|
|
NM_206933.4(USH2A):c.3762C>A (p.Ile1254=)
|
rs533691745
|
0.00001
|
|
NM_206933.4(USH2A):c.3883C>T (p.Arg1295Ter)
|
rs764797292
|
0.00001
|
|
NM_206933.4(USH2A):c.3933G>A (p.Ser1311=)
|
rs560861284
|
0.00001
|
|
NM_206933.4(USH2A):c.3938A>G (p.Asn1313Ser)
|
rs145459379
|
0.00001
|
|
NM_206933.4(USH2A):c.3955C>A (p.Pro1319Thr)
|
rs773133837
|
0.00001
|
|
NM_206933.4(USH2A):c.4378G>A (p.Gly1460Arg)
|
rs139311927
|
0.00001
|
|
NM_206933.4(USH2A):c.4436A>T (p.Asn1479Ile)
|
rs961580455
|
0.00001
|
|
NM_206933.4(USH2A):c.4490C>T (p.Ser1497Phe)
|
rs755482100
|
0.00001
|
|
NM_206933.4(USH2A):c.4870G>T (p.Asp1624Tyr)
|
rs1418438946
|
0.00001
|
|
NM_206933.4(USH2A):c.5002G>A (p.Gly1668Ser)
|
rs1487579070
|
0.00001
|
|
NM_206933.4(USH2A):c.5041A>G (p.Asn1681Asp)
|
rs746010533
|
0.00001
|
|
NM_206933.4(USH2A):c.5059A>C (p.Ile1687Leu)
|
rs144213699
|
0.00001
|
|
NM_206933.4(USH2A):c.5298+5G>A
|
rs1176314553
|
0.00001
|
|
NM_206933.4(USH2A):c.5329C>T (p.Arg1777Trp)
|
rs770329105
|
0.00001
|
|
NM_206933.4(USH2A):c.538T>C (p.Ser180Pro)
|
rs1171672823
|
0.00001
|
|
NM_206933.4(USH2A):c.5434A>T (p.Ile1812Leu)
|
rs372590222
|
0.00001
|
|
NM_206933.4(USH2A):c.5438_5443del (p.Ser1813_Ser1815delinsCys)
|
rs752992414
|
0.00001
|
|
NM_206933.4(USH2A):c.5572+1G>A
|
rs775293551
|
0.00001
|
|
NM_206933.4(USH2A):c.5594A>G (p.Asp1865Gly)
|
rs760543320
|
0.00001
|
|
NM_206933.4(USH2A):c.5732G>A (p.Gly1911Glu)
|
rs763747123
|
0.00001
|
|
NM_206933.4(USH2A):c.5752G>A (p.Glu1918Lys)
|
rs529355834
|
0.00001
|
|
NM_206933.4(USH2A):c.5776+1G>A
|
rs876657731
|
0.00001
|
|
NM_206933.4(USH2A):c.5836C>T (p.Arg1946Ter)
|
rs751130485
|
0.00001
|
|
NM_206933.4(USH2A):c.5945G>A (p.Gly1982Asp)
|
rs765590481
|
0.00001
|
|
NM_206933.4(USH2A):c.5953G>A (p.Glu1985Lys)
|
rs150143291
|
0.00001
|
|
NM_206933.4(USH2A):c.5992C>T (p.Arg1998Cys)
|
rs777886737
|
0.00001
|
|
NM_206933.4(USH2A):c.6048A>G (p.Thr2016=)
|
rs995870865
|
0.00001
|
|
NM_206933.4(USH2A):c.6050G>A (p.Gly2017Asp)
|
rs397518024
|
0.00001
|
|
NM_206933.4(USH2A):c.6119G>C (p.Cys2040Ser)
|
rs748371326
|
0.00001
|
|
NM_206933.4(USH2A):c.6224G>A (p.Trp2075Ter)
|
rs111033386
|
0.00001
|
|
NM_206933.4(USH2A):c.6431A>C (p.Glu2144Ala)
|
rs754703964
|
0.00001
|
|
NM_206933.4(USH2A):c.6492A>C (p.Lys2164Asn)
|
rs727503724
|
0.00001
|
|
NM_206933.4(USH2A):c.651G>T (p.Gln217His)
|
rs758696021
|
0.00001
|
|
NM_206933.4(USH2A):c.653T>A (p.Val218Glu)
|
rs397518026
|
0.00001
|
|
NM_206933.4(USH2A):c.6667G>A (p.Gly2223Ser)
|
rs1047559421
|
0.00001
|
|
NM_206933.4(USH2A):c.6668G>A (p.Gly2223Asp)
|
rs755612537
|
0.00001
|
|
NM_206933.4(USH2A):c.6751T>A (p.Ser2251Thr)
|
rs750302027
|
0.00001
|
|
NM_206933.4(USH2A):c.6780C>G (p.Ser2260=)
|
rs762148018
|
0.00001
|
|
NM_206933.4(USH2A):c.6843A>G (p.Ile2281Met)
|
rs1195257429
|
0.00001
|
|
NM_206933.4(USH2A):c.6854A>G (p.Asn2285Ser)
|
rs528089082
|
0.00001
|
|
NM_206933.4(USH2A):c.6967C>T (p.Arg2323Ter)
|
rs1485173724
|
0.00001
|
|
NM_206933.4(USH2A):c.6994A>G (p.Thr2332Ala)
|
rs1667317930
|
0.00001
|
|
NM_206933.4(USH2A):c.7019A>C (p.Gln2340Pro)
|
rs751937450
|
0.00001
|
|
NM_206933.4(USH2A):c.7019A>T (p.Gln2340Leu)
|
rs751937450
|
0.00001
|
|
NM_206933.4(USH2A):c.705A>G (p.Thr235=)
|
rs767897482
|
0.00001
|
|
NM_206933.4(USH2A):c.7138C>T (p.Leu2380Phe)
|
rs1308006303
|
0.00001
|
|
NM_206933.4(USH2A):c.7218C>A (p.Thr2406=)
|
rs372817698
|
0.00001
|
|
NM_206933.4(USH2A):c.7230A>T (p.Val2410=)
|
rs202162396
|
0.00001
|
|
NM_206933.4(USH2A):c.7301-1G>A
|
rs1438496892
|
0.00001
|
|
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe)
|
rs41315579
|
0.00001
|
|
NM_206933.4(USH2A):c.7387G>A (p.Ala2463Thr)
|
rs374569301
|
0.00001
|
|
NM_206933.4(USH2A):c.7411C>T (p.Leu2471Phe)
|
rs775824145
|
0.00001
|
|
NM_206933.4(USH2A):c.7436C>T (p.Thr2479Ile)
|
rs876658115
|
0.00001
|
|
NM_206933.4(USH2A):c.7452-3C>T
|
rs768233894
|
0.00001
|
|
NM_206933.4(USH2A):c.7461C>T (p.Ser2487=)
|
rs769678033
|
0.00001
|
|
NM_206933.4(USH2A):c.7681G>A (p.Gly2561Arg)
|
rs781685696
|
0.00001
|
|
NM_206933.4(USH2A):c.7728G>C (p.Leu2576Phe)
|
rs151037142
|
0.00001
|
|
NM_206933.4(USH2A):c.7880T>A (p.Ile2627Asn)
|
rs745480430
|
0.00001
|
|
NM_206933.4(USH2A):c.7952A>G (p.Asn2651Ser)
|
rs745559540
|
0.00001
|
|
NM_206933.4(USH2A):c.800T>C (p.Val267Ala)
|
rs1047582820
|
0.00001
|
|
NM_206933.4(USH2A):c.8095C>T (p.Arg2699Trp)
|
rs771526931
|
0.00001
|
|
NM_206933.4(USH2A):c.8102T>C (p.Leu2701Pro)
|
rs982853731
|
0.00001
|
|
NM_206933.4(USH2A):c.8120G>A (p.Gly2707Glu)
|
rs397518034
|
0.00001
|
|
NM_206933.4(USH2A):c.8167C>T (p.Arg2723Ter)
|
rs200712760
|
0.00001
|
|
NM_206933.4(USH2A):c.8177G>A (p.Gly2726Glu)
|
rs549796389
|
0.00001
|
|
NM_206933.4(USH2A):c.8200G>A (p.Val2734Met)
|
rs397518035
|
0.00001
|
|
NM_206933.4(USH2A):c.82A>G (p.Ile28Val)
|
rs753515909
|
0.00001
|
|
NM_206933.4(USH2A):c.8392G>A (p.Gly2798Arg)
|
rs397518037
|
0.00001
|
|
NM_206933.4(USH2A):c.8522G>A (p.Trp2841Ter)
|
rs1064797134
|
0.00001
|
|
NM_206933.4(USH2A):c.8758A>G (p.Thr2920Ala)
|
rs762358589
|
0.00001
|
|
NM_206933.4(USH2A):c.8824G>A (p.Asp2942Asn)
|
rs763232931
|
0.00001
|
|
NM_206933.4(USH2A):c.8851C>G (p.Gln2951Glu)
|
rs201394390
|
0.00001
|
|
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter)
|
rs397518041
|
0.00001
|
|
NM_206933.4(USH2A):c.8985C>G (p.Ile2995Met)
|
rs901891136
|
0.00001
|
|
NM_206933.4(USH2A):c.9056-2A>G
|
rs754970095
|
0.00001
|
|
NM_206933.4(USH2A):c.9071T>A (p.Leu3024His)
|
rs111033456
|
0.00001
|
|
NM_206933.4(USH2A):c.9095A>G (p.Asn3032Ser)
|
rs768579751
|
0.00001
|
|
NM_206933.4(USH2A):c.9109C>T (p.Arg3037Cys)
|
rs770418427
|
0.00001
|
|
NM_206933.4(USH2A):c.9185A>G (p.Tyr3062Cys)
|
rs1368683731
|
0.00001
|
|
NM_206933.4(USH2A):c.9258+1G>A
|
rs748810737
|
0.00001
|
|
NM_206933.4(USH2A):c.9469C>T (p.Gln3157Ter)
|
rs772100045
|
0.00001
|
|
NM_206933.4(USH2A):c.9528T>G (p.Pro3176=)
|
rs781101196
|
0.00001
|
|
NM_206933.4(USH2A):c.9539G>C (p.Cys3180Ser)
|
rs1229658229
|
0.00001
|
|
NM_206933.4(USH2A):c.9676C>T (p.Arg3226Ter)
|
rs760858249
|
0.00001
|
|
NM_206933.4(USH2A):c.9695C>A (p.Pro3232Gln)
|
rs774654676
|
0.00001
|
|
NM_206933.4(USH2A):c.9714T>C (p.Ser3238=)
|
rs979950007
|
0.00001
|
|
NM_206933.4(USH2A):c.9815C>T (p.Pro3272Leu)
|
rs764182950
|
0.00001
|
|
NM_206933.4(USH2A):c.9834C>A (p.Asn3278Lys)
|
rs904037823
|
0.00001
|
|
NM_206933.4(USH2A):c.9851G>A (p.Gly3284Glu)
|
rs1043013730
|
0.00001
|
|
NM_206933.4(USH2A):c.9875A>G (p.Gln3292Arg)
|
rs1243226250
|
0.00001
|
|
NM_206933.4(USH2A):c.9906C>T (p.Asn3302=)
|
rs757439664
|
0.00001
|
|
NM_206933.4(USH2A):c.99_100insT (p.Arg34fs)
|
rs141672841
|
0.00001
|
|
NR_003051.3(RMRP):n.-16G>A
|
rs780414839
|
0.00001
|
|
NR_003051.3(RMRP):n.-16_-4dup
|
rs1554651422
|
0.00001
|
|
NR_003051.3(RMRP):n.-20_-8dup
|
rs1823640657
|
0.00001
|
|
NR_003051.3(RMRP):n.-21_-2dup
|
rs1554651403
|
0.00001
|
|
NR_003051.3(RMRP):n.-22_-14dup
|
rs1563908167
|
0.00001
|
|
NR_003051.3(RMRP):n.-22_-4dup
|
rs1554651427
|
0.00001
|
|
NR_003051.4(RMRP):n.102A>G
|
rs983337094
|
0.00001
|
|
NR_003051.4(RMRP):n.115_116insA
|
rs769131655
|
0.00001
|
|
NR_003051.4(RMRP):n.127C>T
|
rs1303461251
|
0.00001
|
|
NR_003051.4(RMRP):n.167T>G
|
rs1160309777
|
0.00001
|
|
NR_003051.4(RMRP):n.195G>A
|
rs761398394
|
0.00001
|
|
NR_003051.4(RMRP):n.202C>T
|
rs1245933575
|
0.00001
|
|
NR_003051.4(RMRP):n.20G>C
|
rs910861550
|
0.00001
|
|
NR_003051.4(RMRP):n.235A>G
|
rs1371155716
|
0.00001
|
|
NR_003051.4(RMRP):n.247G>A
|
rs1345047056
|
0.00001
|
|
NR_003051.4(RMRP):n.46C>T
|
rs1394104178
|
0.00001
|
|
NR_003051.4(RMRP):n.94A>C
|
rs928762713
|
0.00001
|
|
NR_003051.4(RMRP):n.97G>A
|
rs970510851
|
0.00001
|
|
NM_000019.4(ACAT1):c.*6dup
|
rs111390656
|
|
|
NM_000019.4(ACAT1):c.1006-1G>C
|
rs1131691567
|
|
|
NM_000019.4(ACAT1):c.1200_1207del (p.His400fs)
|
rs1057520091
|
|
|
NM_000019.4(ACAT1):c.1277A>C (p.Lys426Thr)
|
rs2077742350
|
|
|
NM_000019.4(ACAT1):c.291A>T (p.Gly97=)
|
rs746216662
|
|
|
NM_000019.4(ACAT1):c.436-4G>A
|
rs3741050
|
|
|
NM_000019.4(ACAT1):c.436-4G>C
|
rs3741050
|
|
|
NM_000019.4(ACAT1):c.436G>A (p.Asp146Asn)
|
rs2077523952
|
|
|
NM_000019.4(ACAT1):c.483T>C (p.Tyr161=)
|
rs1591367485
|
|
|
NM_000019.4(ACAT1):c.578T>G (p.Met193Arg)
|
rs541517496
|
|
|
NM_000019.4(ACAT1):c.64_72+10del
|
rs1318268067
|
|
|
NM_000019.4(ACAT1):c.71A>C (p.Gln24Pro)
|
rs2077152202
|
|
|
NM_000019.4(ACAT1):c.730+2T>C
|
rs398123096
|
|
|
NM_000019.4(ACAT1):c.921A>G (p.Thr307=)
|
rs2077610591
|
|
|
NM_000019.4(ACAT1):c.983C>T (p.Ala328Val)
|
rs1057517702
|
|
|
NM_000023.4(SGCA):c.169G>A (p.Ala57Thr)
|
rs769778891
|
|
|
NM_000023.4(SGCA):c.187C>T (p.His63Tyr)
|
rs1905021704
|
|
|
NM_000023.4(SGCA):c.304G>A (p.Val102Ile)
|
rs1266940329
|
|
|
NM_000023.4(SGCA):c.341A>C (p.Asp114Ala)
|
rs749097695
|
|
|
NM_000023.4(SGCA):c.348_352dup (p.Gln118fs)
|
rs752640127
|
|
|
NM_000023.4(SGCA):c.37+6T>C
|
rs751466815
|
|
|
NM_000023.4(SGCA):c.402C>G (p.Tyr134Ter)
|
rs780264754
|
|
|
NM_000023.4(SGCA):c.409G>C (p.Glu137Gln)
|
rs372210292
|
|
|
NM_000023.4(SGCA):c.488dup (p.Leu164fs)
|
rs763986788
|
|
|
NM_000023.4(SGCA):c.49G>A (p.Gly17Arg)
|
rs573792379
|
|
|
NM_000023.4(SGCA):c.52C>G (p.Leu18Val)
|
rs1555568100
|
|
|
NM_000023.4(SGCA):c.541C>T (p.Arg181Cys)
|
rs574376340
|
|
|
NM_000023.4(SGCA):c.675C>T (p.Gly225=)
|
rs773985328
|
|
|
NM_000023.4(SGCA):c.724G>T (p.Val242Phe)
|
rs200166783
|
|
|
NM_000023.4(SGCA):c.781G>A (p.Val261Met)
|
rs754703769
|
|
|
NM_000023.4(SGCA):c.850C>G (p.Arg284Gly)
|
rs137852623
|
|
|
NM_000023.4(SGCA):c.957-1G>T
|
rs2144502043
|
|
|
NM_000023.4(SGCA):c.969C>A (p.Asp323Glu)
|
rs1309107612
|
|
|
NM_000057.4(BLM):c.-4-2A>T
|
rs866546098
|
|
|
NM_000057.4(BLM):c.1003C>G (p.Leu335Val)
|
rs1265514490
|
|
|
NM_000057.4(BLM):c.1015A>G (p.Lys339Glu)
|
rs1596223833
|
|
|
NM_000057.4(BLM):c.1025T>C (p.Leu342Ser)
|
rs1596223853
|
|
|
NM_000057.4(BLM):c.1027T>A (p.Ser343Thr)
|
rs776620199
|
|
|
NM_000057.4(BLM):c.1037A>C (p.Glu346Ala)
|
rs1946402648
|
|
|
NM_000057.4(BLM):c.1057C>G (p.Leu353Val)
|
rs1895778737
|
|
|
NM_000057.4(BLM):c.1064C>G (p.Pro355Arg)
|
rs1022898915
|
|
|
NM_000057.4(BLM):c.1075A>C (p.Thr359Pro)
|
rs1332024999
|
|
|
NM_000057.4(BLM):c.1096A>C (p.Ile366Leu)
|
rs552913880
|
|
|
NM_000057.4(BLM):c.10G>A (p.Val4Ile)
|
rs1466614215
|
|
|
NM_000057.4(BLM):c.1118T>A (p.Ile373Asn)
|
rs1060500630
|
|
|
NM_000057.4(BLM):c.1137C>G (p.Ile379Met)
|
rs1178783782
|
|
|
NM_000057.4(BLM):c.1190G>A (p.Gly397Glu)
|
rs1596228978
|
|
|
NM_000057.4(BLM):c.1201C>T (p.Leu401Phe)
|
rs151150267
|
|
|
NM_000057.4(BLM):c.1220G>C (p.Arg407Thr)
|
rs1350192744
|
|
|
NM_000057.4(BLM):c.1221A>C (p.Arg407Ser)
|
rs900060314
|
|
|
NM_000057.4(BLM):c.1259A>G (p.Asp420Gly)
|
rs773952896
|
|
|
NM_000057.4(BLM):c.1267CTT[1] (p.Leu424del)
|
rs777886082
|
|
|
NM_000057.4(BLM):c.129_130insTAT (p.Ser43_Asp44insTyr)
|
rs778786003
|
|
|
NM_000057.4(BLM):c.1305T>G (p.Leu435=)
|
rs778967807
|
|
|
NM_000057.4(BLM):c.1319A>G (p.Glu440Gly)
|
rs1567040910
|
|
|
NM_000057.4(BLM):c.131A>G (p.Asp44Gly)
|
rs1895600607
|
|
|
NM_000057.4(BLM):c.1346C>A (p.Ser449Tyr)
|
rs967698170
|
|
|
NM_000057.4(BLM):c.134A>G (p.Asn45Ser)
|
rs1555418242
|
|
|
NM_000057.4(BLM):c.1362T>C (p.Asn454=)
|
rs1156488243
|
|
|
NM_000057.4(BLM):c.138T>G (p.Asn46Lys)
|
rs1895600929
|
|
|
NM_000057.4(BLM):c.1397G>A (p.Gly466Glu)
|
rs1567041006
|
|
|
NM_000057.4(BLM):c.145G>A (p.Val49Ile)
|
rs558379347
|
|
|
NM_000057.4(BLM):c.1462G>A (p.Glu488Lys)
|
rs1477193473
|
|
|
NM_000057.4(BLM):c.1468C>T (p.Pro490Ser)
|
rs1567041087
|
|
|
NM_000057.4(BLM):c.146T>C (p.Val49Ala)
|
rs1895601341
|
|
|
NM_000057.4(BLM):c.1479_1480del (p.Thr494fs)
|
rs746244182
|
|
|
NM_000057.4(BLM):c.1481C>T (p.Thr494Ile)
|
rs751600686
|
|
|
NM_000057.4(BLM):c.1505G>C (p.Ser502Thr)
|
rs908599703
|
|
|
NM_000057.4(BLM):c.1532T>G (p.Leu511Arg)
|
rs1446287900
|
|
|
NM_000057.4(BLM):c.1544del (p.Asn515fs)
|
rs367543043
|
|
|
NM_000057.4(BLM):c.1544dup (p.Asn515fs)
|
rs367543043
|
|
|
NM_000057.4(BLM):c.1552T>C (p.Ser518Pro)
|
rs1596230139
|
|
|
NM_000057.4(BLM):c.1559T>C (p.Phe520Ser)
|
rs1410283592
|
|
|
NM_000057.4(BLM):c.1583C>T (p.Thr528Ile)
|
rs1596230185
|
|
|
NM_000057.4(BLM):c.1612G>A (p.Ala538Thr)
|
rs1318049766
|
|
|
NM_000057.4(BLM):c.1622A>G (p.Asn541Ser)
|
rs1240946873
|
|
|
NM_000057.4(BLM):c.1631A>G (p.Glu544Gly)
|
rs1567041307
|
|
|
NM_000057.4(BLM):c.1657A>G (p.Ile553Val)
|
rs778873363
|
|
|
NM_000057.4(BLM):c.1673T>C (p.Ile558Thr)
|
rs1469407831
|
|
|
NM_000057.4(BLM):c.1676A>T (p.Asp559Val)
|
rs1596230337
|
|
|
NM_000057.4(BLM):c.1683TGA[6] (p.Asp566dup)
|
rs768095141
|
|
|
NM_000057.4(BLM):c.1691A>G (p.Asp564Gly)
|
rs1555419944
|
|
|
NM_000057.4(BLM):c.1706A>G (p.Asp569Gly)
|
rs1895971955
|
|
|
NM_000057.4(BLM):c.1709T>C (p.Ile570Thr)
|
rs1567041376
|
|
|
NM_000057.4(BLM):c.1715A>G (p.His572Arg)
|
rs763355238
|
|
|
NM_000057.4(BLM):c.1719T>A (p.Asn573Lys)
|
rs1895973169
|
|
|
NM_000057.4(BLM):c.172C>A (p.Pro58Thr)
|
rs1596217837
|
|
|
NM_000057.4(BLM):c.1784C>G (p.Ser595Ter)
|
rs138943954
|
|
|
NM_000057.4(BLM):c.1786G>A (p.Val596Ile)
|
rs1596230556
|
|
|
NM_000057.4(BLM):c.1802C>T (p.Ser601Phe)
|
rs751951251
|
|
|
NM_000057.4(BLM):c.1808C>G (p.Ala603Gly)
|
rs1567041486
|
|
|
NM_000057.4(BLM):c.1840G>A (p.Ala614Thr)
|
rs1895978868
|
|
|
NM_000057.4(BLM):c.1856_1858del (p.Phe619del)
|
rs1555419996
|
|
|
NM_000057.4(BLM):c.1868T>C (p.Ile623Thr)
|
rs1567041556
|
|
|
NM_000057.4(BLM):c.1888T>A (p.Ser630Thr)
|
rs1567042153
|
|
|
NM_000057.4(BLM):c.1913A>G (p.Asn638Ser)
|
rs587778110
|
|
|
NM_000057.4(BLM):c.1939C>G (p.Leu647Val)
|
rs1896027269
|
|
|
NM_000057.4(BLM):c.1979A>G (p.His660Arg)
|
rs1896029572
|
|
|
NM_000057.4(BLM):c.199G>A (p.Val67Ile)
|
rs991350762
|
|
|
NM_000057.4(BLM):c.2069C>T (p.Pro690Leu)
|
rs761589072
|
|
|
NM_000057.4(BLM):c.208G>A (p.Asp70Asn)
|
rs769957028
|
|
|
NM_000057.4(BLM):c.2123G>A (p.Gly708Glu)
|
rs763559820
|
|
|
NM_000057.4(BLM):c.2126T>A (p.Val709Asp)
|
rs1896094774
|
|
|
NM_000057.4(BLM):c.2155C>T (p.Leu719Phe)
|
rs587779881
|
|
|
NM_000057.4(BLM):c.2165A>G (p.Asp722Gly)
|
rs1896096525
|
|
|
NM_000057.4(BLM):c.2183C>G (p.Thr728Ser)
|
rs1567043208
|
|
|
NM_000057.4(BLM):c.2193+1G>A
|
rs865866188
|
|
|
NM_000057.4(BLM):c.2193+1_2193+9del
|
rs1060500652
|
|
|
NM_000057.4(BLM):c.2194A>T (p.Ile732Phe)
|
rs1555420546
|
|
|
NM_000057.4(BLM):c.2200G>A (p.Ala734Thr)
|
rs1301298294
|
|
|
NM_000057.4(BLM):c.2200G>T (p.Ala734Ser)
|
rs1301298294
|
|
|
NM_000057.4(BLM):c.2205A>G (p.Thr735=)
|
rs757134420
|
|
|
NM_000057.4(BLM):c.2212A>G (p.Thr738Ala)
|
rs1050741211
|
|
|
NM_000057.4(BLM):c.2215G>A (p.Gly739Ser)
|
rs745642690
|
|
|
NM_000057.4(BLM):c.2251C>T (p.Leu751Phe)
|
rs1292127075
|
|
|
NM_000057.4(BLM):c.2254C>A (p.Gln752Lys)
|
rs1424485988
|
|
|
NM_000057.4(BLM):c.226C>T (p.Pro76Ser)
|
rs768843912
|
|
|
NM_000057.4(BLM):c.2278A>G (p.Ile760Val)
|
rs1896150112
|
|
|
NM_000057.4(BLM):c.2329A>G (p.Ile777Val)
|
rs764097842
|
|
|
NM_000057.4(BLM):c.2349_2350del (p.Leu783_Tyr784insTer)
|
rs1555420844
|
|
|
NM_000057.4(BLM):c.234C>T (p.Pro78=)
|
rs970793829
|
|
|
NM_000057.4(BLM):c.2362C>T (p.Leu788Phe)
|
rs149754073
|
|
|
NM_000057.4(BLM):c.2407-7del
|
rs769184675
|
|
|
NM_000057.4(BLM):c.2407dup (p.Trp803fs)
|
rs367543012
|
|
|
NM_000057.4(BLM):c.2434A>G (p.Lys812Glu)
|
rs763827222
|
|
|
NM_000057.4(BLM):c.2441T>C (p.Met814Thr)
|
rs1596238678
|
|
|
NM_000057.4(BLM):c.2452C>T (p.Arg818Cys)
|
rs1279814185
|
|
|
NM_000057.4(BLM):c.2459A>G (p.Lys820Arg)
|
rs1896238883
|
|
|
NM_000057.4(BLM):c.2480T>C (p.Met827Thr)
|
rs748250819
|
|
|
NM_000057.4(BLM):c.2489C>G (p.Thr830Arg)
|
rs759545027
|
|
|
NM_000057.4(BLM):c.24T>G (p.Asn8Lys)
|
rs1060500635
|
|
|
NM_000057.4(BLM):c.2516A>G (p.Lys839Arg)
|
rs756815062
|
|
|
NM_000057.4(BLM):c.2518G>A (p.Asp840Asn)
|
rs1238410843
|
|
|
NM_000057.4(BLM):c.2540T>G (p.Ile847Ser)
|
rs756664681
|
|
|
NM_000057.4(BLM):c.2556-1G>T
|
rs1896650174
|
|
|
NM_000057.4(BLM):c.2556G>T (p.Val852=)
|
rs1896650229
|
|
|
NM_000057.4(BLM):c.256G>C (p.Val86Leu)
|
rs1596218041
|
|
|
NM_000057.4(BLM):c.2572A>G (p.Asn858Asp)
|
rs1555422355
|
|
|
NM_000057.4(BLM):c.2584C>G (p.Leu862Val)
|
rs1596250300
|
|
|
NM_000057.4(BLM):c.2603C>G (p.Pro868Arg)
|
rs2227935
|
|
|
NM_000057.4(BLM):c.2608A>C (p.Lys870Gln)
|
rs2151178094
|
|
|
NM_000057.4(BLM):c.2620G>A (p.Val874Met)
|
rs1896652959
|
|
|
NM_000057.4(BLM):c.2624C>A (p.Ala875Glu)
|
rs1596250413
|
|
|
NM_000057.4(BLM):c.262G>C (p.Asp88His)
|
rs752379441
|
|
|
NM_000057.4(BLM):c.2630A>G (p.Asp877Gly)
|
rs1373872204
|
|
|
NM_000057.4(BLM):c.2643G>A (p.Trp881Ter)
|
rs367543039
|
|
|
NM_000057.4(BLM):c.2647A>G (p.Arg883Gly)
|
rs1035944262
|
|
|
NM_000057.4(BLM):c.264CTT[1] (p.Phe90del)
|
rs1555418301
|
|
|
NM_000057.4(BLM):c.2662+2T>C
|
rs1567052324
|
|
|
NM_000057.4(BLM):c.2713G>A (p.Ala905Thr)
|
rs1596252085
|
|
|
NM_000057.4(BLM):c.2725C>G (p.Gln909Glu)
|
rs1456964727
|
|
|
NM_000057.4(BLM):c.2729G>C (p.Arg910Thr)
|
rs1567053290
|
|
|
NM_000057.4(BLM):c.2732A>T (p.Asp911Val)
|
rs1596252149
|
|
|
NM_000057.4(BLM):c.2743G>A (p.Ala915Thr)
|
rs1896709530
|
|
|
NM_000057.4(BLM):c.2787A>C (p.Glu929Asp)
|
rs764679551
|
|
|
NM_000057.4(BLM):c.2824-7A>G
|
rs374616797
|
|
|
NM_000057.4(BLM):c.2829C>G (p.Ile943Met)
|
rs1596257034
|
|
|
NM_000057.4(BLM):c.2858T>C (p.Ile953Thr)
|
rs587778102
|
|
|
NM_000057.4(BLM):c.2923del (p.Gln975fs)
|
rs367543014
|
|
|
NM_000057.4(BLM):c.2929T>G (p.Ser977Ala)
|
rs912097353
|
|
|
NM_000057.4(BLM):c.2983T>A (p.Tyr995Asn)
|
rs142723411
|
|
|
NM_000057.4(BLM):c.2984A>G (p.Tyr995Cys)
|
rs779755994
|
|
|
NM_000057.4(BLM):c.3000A>T (p.Arg1000Ser)
|
rs1395403568
|
|
|
NM_000057.4(BLM):c.3013A>G (p.Ile1005Val)
|
rs201829983
|
|
|
NM_000057.4(BLM):c.3020-3T>C
|
rs1896971029
|
|
|
NM_000057.4(BLM):c.3029A>T (p.Asp1010Val)
|
rs1459742200
|
|
|
NM_000057.4(BLM):c.3039T>C (p.His1013=)
|
rs747406569
|
|
|
NM_000057.4(BLM):c.3052A>G (p.Thr1018Ala)
|
rs1896972868
|
|
|
NM_000057.4(BLM):c.3056A>C (p.His1019Pro)
|
rs769982824
|
|
|
NM_000057.4(BLM):c.305G>A (p.Gly102Asp)
|
rs1186813751
|
|
|
NM_000057.4(BLM):c.3061A>G (p.Asn1021Asp)
|
rs374105075
|
|
|
NM_000057.4(BLM):c.3062A>T (p.Asn1021Ile)
|
rs369629509
|
|
|
NM_000057.4(BLM):c.3083A>G (p.His1028Arg)
|
rs1487267563
|
|
|
NM_000057.4(BLM):c.3101C>T (p.Thr1034Met)
|
rs753652339
|
|
|
NM_000057.4(BLM):c.3153T>A (p.Asn1051Lys)
|
rs1262516507
|
|
|
NM_000057.4(BLM):c.3164G>A (p.Cys1055Tyr)
|
rs367543029
|
|
|
NM_000057.4(BLM):c.3180T>C (p.Asp1060=)
|
rs749458622
|
|
|
NM_000057.4(BLM):c.3191A>G (p.Asp1064Gly)
|
rs367543032
|
|
|
NM_000057.4(BLM):c.3200G>A (p.Cys1067Tyr)
|
rs587779885
|
|
|
NM_000057.4(BLM):c.3211-3T>C
|
rs1897074828
|
|
|
NM_000057.4(BLM):c.3238G>A (p.Asp1080Asn)
|
rs771767745
|
|
|
NM_000057.4(BLM):c.3238G>C (p.Asp1080His)
|
rs771767745
|
|
|
NM_000057.4(BLM):c.3239A>T (p.Asp1080Val)
|
rs775383361
|
|
|
NM_000057.4(BLM):c.3242T>G (p.Val1081Gly)
|
rs762716289
|
|
|
NM_000057.4(BLM):c.324G>T (p.Leu108Phe)
|
rs1198433222
|
|
|
NM_000057.4(BLM):c.3253G>T (p.Val1085Leu)
|
rs761235042
|
|
|
NM_000057.4(BLM):c.3261del (p.Phe1087fs)
|
rs1319786857
|
|
|
NM_000057.4(BLM):c.3272A>G (p.His1091Arg)
|
rs750954124
|
|
|
NM_000057.4(BLM):c.3286G>A (p.Gly1096Arg)
|
rs1334208387
|
|
|
NM_000057.4(BLM):c.3287G>C (p.Gly1096Ala)
|
rs893352310
|
|
|
NM_000057.4(BLM):c.3287G>T (p.Gly1096Val)
|
rs893352310
|
|
|
NM_000057.4(BLM):c.3335A>G (p.Asn1112Ser)
|
rs1897081867
|
|
|
NM_000057.4(BLM):c.3352T>G (p.Phe1118Val)
|
rs2151190485
|
|
|
NM_000057.4(BLM):c.3354C>A (p.Phe1118Leu)
|
rs1351493073
|
|
|
NM_000057.4(BLM):c.3359-3C>G
|
rs765552044
|
|
|
NM_000057.4(BLM):c.335T>C (p.Leu112Ser)
|
rs1038386076
|
|
|
NM_000057.4(BLM):c.3362G>T (p.Ser1121Ile)
|
rs758753168
|
|
|
NM_000057.4(BLM):c.3371C>T (p.Ala1124Val)
|
rs751765688
|
|
|
NM_000057.4(BLM):c.3386G>A (p.Gly1129Asp)
|
rs375841213
|
|
|
NM_000057.4(BLM):c.3416G>C (p.Arg1139Pro)
|
rs771776126
|
|
|
NM_000057.4(BLM):c.3418C>T (p.His1140Tyr)
|
rs746602812
|
|
|
NM_000057.4(BLM):c.343C>A (p.Pro115Thr)
|
rs1173491187
|
|
|
NM_000057.4(BLM):c.3442A>G (p.Lys1148Glu)
|
rs1596267545
|
|
|
NM_000057.4(BLM):c.3443A>C (p.Lys1148Thr)
|
rs1897215421
|
|
|
NM_000057.4(BLM):c.3452T>G (p.Leu1151Arg)
|
rs1897215897
|
|
|
NM_000057.4(BLM):c.3456C>A (p.Asp1152Glu)
|
rs1897216087
|
|
|
NM_000057.4(BLM):c.3456C>G (p.Asp1152Glu)
|
rs1897216087
|
|
|
NM_000057.4(BLM):c.3472G>A (p.Asp1158Asn)
|
rs1567062737
|
|
|
NM_000057.4(BLM):c.348G>A (p.Lys116=)
|
rs749535664
|
|
|
NM_000057.4(BLM):c.348G>C (p.Lys116Asn)
|
rs749535664
|
|
|
NM_000057.4(BLM):c.3497A>T (p.Gln1166Leu)
|
rs371774802
|
|
|
NM_000057.4(BLM):c.3500C>G (p.Ala1167Gly)
|
rs987150263
|
|
|
NM_000057.4(BLM):c.3503T>C (p.Ile1168Thr)
|
rs1897218823
|
|
|
NM_000057.4(BLM):c.3520G>A (p.Gly1174Arg)
|
rs776156059
|
|
|
NM_000057.4(BLM):c.3524A>G (p.Asn1175Ser)
|
rs1596267710
|
|
|
NM_000057.4(BLM):c.3536C>T (p.Thr1179Ile)
|
rs1555424324
|
|
|
NM_000057.4(BLM):c.3550A>G (p.Asn1184Asp)
|
rs1463025227
|
|
|
NM_000057.4(BLM):c.3550A>T (p.Asn1184Tyr)
|
rs1463025227
|
|
|
NM_000057.4(BLM):c.3551A>G (p.Asn1184Ser)
|
rs1596267777
|
|
|
NM_000057.4(BLM):c.3559-1G>A
|
rs1555424368
|
|
|
NM_000057.4(BLM):c.3589A>T (p.Ser1197Cys)
|
rs1596268133
|
|
|
NM_000057.4(BLM):c.3634G>C (p.Glu1212Gln)
|
rs1897234496
|
|
|
NM_000057.4(BLM):c.3641T>C (p.Met1214Thr)
|
rs1596268211
|
|
|
NM_000057.4(BLM):c.3651A>T (p.Lys1217Asn)
|
rs587779887
|
|
|
NM_000057.4(BLM):c.3668C>A (p.Thr1223Lys)
|
rs772506214
|
|
|
NM_000057.4(BLM):c.3683C>G (p.Ser1228Cys)
|
rs1897236482
|
|
|
NM_000057.4(BLM):c.3685C>G (p.Leu1229Val)
|
rs1555424395
|
|
|
NM_000057.4(BLM):c.3694G>A (p.Val1232Ile)
|
rs1897236925
|
|
|
NM_000057.4(BLM):c.3730G>A (p.Val1244Ile)
|
rs1249106324
|
|
|
NM_000057.4(BLM):c.3743A>T (p.Lys1248Met)
|
rs1555424404
|
|
|
NM_000057.4(BLM):c.3747T>A (p.Leu1249=)
|
rs776748831
|
|
|
NM_000057.4(BLM):c.3751+10C>G
|
rs199685140
|
|
|
NM_000057.4(BLM):c.3757T>G (p.Leu1253Val)
|
rs1249288071
|
|
|
NM_000057.4(BLM):c.3769C>G (p.Pro1257Ala)
|
rs144964365
|
|
|
NM_000057.4(BLM):c.376C>G (p.Pro126Ala)
|
rs587778106
|
|
|
NM_000057.4(BLM):c.376C>T (p.Pro126Ser)
|
rs587778106
|
|
|
NM_000057.4(BLM):c.3775G>A (p.Val1259Ile)
|
rs1897348236
|
|
|
NM_000057.4(BLM):c.3803A>T (p.Glu1268Val)
|
rs1897348799
|
|
|
NM_000057.4(BLM):c.3826G>A (p.Ala1276Thr)
|
rs1567065690
|
|
|
NM_000057.4(BLM):c.3841G>A (p.Val1281Ile)
|
rs1018540956
|
|
|
NM_000057.4(BLM):c.3847C>T (p.Gln1283Ter)
|
rs367543031
|
|
|
NM_000057.4(BLM):c.3875C>A (p.Ala1292Asp)
|
rs1567066745
|
|
|
NM_000057.4(BLM):c.3876T>C (p.Ala1292=)
|
rs1596273405
|
|
|
NM_000057.4(BLM):c.3897A>G (p.Ile1299Met)
|
rs1596273455
|
|
|
NM_000057.4(BLM):c.3930T>G (p.Ser1310Arg)
|
rs886051552
|
|
|
NM_000057.4(BLM):c.3943C>T (p.Leu1315Phe)
|
rs959925706
|
|
|
NM_000057.4(BLM):c.3946G>A (p.Asp1316Asn)
|
rs779179608
|
|
|
NM_000057.4(BLM):c.3948C>T (p.Asp1316=)
|
rs375896520
|
|
|
NM_000057.4(BLM):c.3957A>T (p.Ile1319=)
|
rs1555425082
|
|
|
NM_000057.4(BLM):c.3959C>A (p.Pro1320His)
|
rs2151199849
|
|
|
NM_000057.4(BLM):c.3961G>C (p.Val1321Leu)
|
rs7167216
|
|
|
NM_000057.4(BLM):c.4028A>G (p.Gln1343Arg)
|
rs2151199942
|
|
|
NM_000057.4(BLM):c.4068G>C (p.Lys1356Asn)
|
rs587779890
|
|
|
NM_000057.4(BLM):c.4076+1G>T
|
rs752899566
|
|
|
NM_000057.4(BLM):c.4079G>A (p.Gly1360Glu)
|
rs1258712808
|
|
|
NM_000057.4(BLM):c.4090T>C (p.Cys1364Arg)
|
rs1596276396
|
|
|
NM_000057.4(BLM):c.4102T>C (p.Ser1368Pro)
|
rs587778104
|
|
|
NM_000057.4(BLM):c.4123A>G (p.Ser1375Gly)
|
rs1897526575
|
|
|
NM_000057.4(BLM):c.4124G>A (p.Ser1375Asn)
|
rs139115275
|
|
|
NM_000057.4(BLM):c.4154C>T (p.Thr1385Ile)
|
rs1596276510
|
|
|
NM_000057.4(BLM):c.4163C>T (p.Ala1388Val)
|
rs1567068992
|
|
|
NM_000057.4(BLM):c.4178A>G (p.Asn1393Ser)
|
rs1897529855
|
|
|
NM_000057.4(BLM):c.4214T>C (p.Ile1405Thr)
|
rs763323767
|
|
|
NM_000057.4(BLM):c.4223C>G (p.Pro1408Arg)
|
rs1022266595
|
|
|
NM_000057.4(BLM):c.4223C>T (p.Pro1408Leu)
|
rs1022266595
|
|
|
NM_000057.4(BLM):c.4228C>T (p.Leu1410Phe)
|
rs1897532582
|
|
|
NM_000057.4(BLM):c.4232A>G (p.Lys1411Arg)
|
rs1897532698
|
|
|
NM_000057.4(BLM):c.4234C>G (p.Pro1412Ala)
|
rs1249221595
|
|
|
NM_000057.4(BLM):c.4237del (p.Ser1413fs)
|
rs1454179023
|
|
|
NM_000057.4(BLM):c.428C>A (p.Ser143Tyr)
|
rs1488217859
|
|
|
NM_000057.4(BLM):c.434C>A (p.Pro145Gln)
|
rs1895616094
|
|
|
NM_000057.4(BLM):c.448A>G (p.Thr150Ala)
|
rs1567035400
|
|
|
NM_000057.4(BLM):c.485C>T (p.Thr162Ile)
|
rs1596218602
|
|
|
NM_000057.4(BLM):c.486T>C (p.Thr162=)
|
rs1596218608
|
|
|
NM_000057.4(BLM):c.489T>C (p.Ser163=)
|
rs781044650
|
|
|
NM_000057.4(BLM):c.4G>T (p.Ala2Ser)
|
rs199769364
|
|
|
NM_000057.4(BLM):c.506T>A (p.Phe169Tyr)
|
rs1013299710
|
|
|
NM_000057.4(BLM):c.514C>G (p.Pro172Ala)
|
rs1163233988
|
|
|
NM_000057.4(BLM):c.543C>A (p.Ser181Arg)
|
rs761288442
|
|
|
NM_000057.4(BLM):c.544A>G (p.Thr182Ala)
|
rs1060500643
|
|
|
NM_000057.4(BLM):c.545C>T (p.Thr182Ile)
|
rs749838731
|
|
|
NM_000057.4(BLM):c.557_559del (p.Ser186_Lys187delinsTer)
|
rs367543035
|
|
|
NM_000057.4(BLM):c.559A>G (p.Lys187Glu)
|
rs1895625606
|
|
|
NM_000057.4(BLM):c.563A>G (p.Lys188Arg)
|
rs907949967
|
|
|
NM_000057.4(BLM):c.565G>A (p.Gly189Ser)
|
rs1180631656
|
|
|
NM_000057.4(BLM):c.57A>T (p.Arg19Ser)
|
rs1555418008
|
|
|
NM_000057.4(BLM):c.581_582del (p.Phe193_Phe194insTer)
|
rs367543026
|
|
|
NM_000057.4(BLM):c.633CTC[1] (p.Ser213del)
|
rs760096957
|
|
|
NM_000057.4(BLM):c.64A>G (p.Asn22Asp)
|
rs1370338581
|
|
|
NM_000057.4(BLM):c.661A>T (p.Thr221Ser)
|
rs1895631812
|
|
|
NM_000057.4(BLM):c.703G>A (p.Val235Met)
|
rs765696829
|
|
|
NM_000057.4(BLM):c.715G>C (p.Asp239His)
|
rs200756519
|
|
|
NM_000057.4(BLM):c.719A>G (p.Asp240Gly)
|
rs757324067
|
|
|
NM_000057.4(BLM):c.728T>C (p.Ile243Thr)
|
rs200000438
|
|
|
NM_000057.4(BLM):c.772_773del (p.Leu258fs)
|
rs367543013
|
|
|
NM_000057.4(BLM):c.782A>G (p.His261Arg)
|
rs763166861
|
|
|
NM_000057.4(BLM):c.796A>G (p.Arg266Gly)
|
rs1895641246
|
|
|
NM_000057.4(BLM):c.799+1G>T
|
rs1895641581
|
|
|
NM_000057.4(BLM):c.842A>G (p.His281Arg)
|
rs202042636
|
|
|
NM_000057.4(BLM):c.856G>T (p.Val286Phe)
|
rs758301305
|
|
|
NM_000057.4(BLM):c.86A>G (p.Lys29Arg)
|
rs1895535585
|
|
|
NM_000057.4(BLM):c.883G>A (p.Asp295Asn)
|
rs146096923
|
|
|
NM_000057.4(BLM):c.883G>T (p.Asp295Tyr)
|
rs146096923
|
|
|
NM_000057.4(BLM):c.887A>T (p.Tyr296Phe)
|
rs775005766
|
|
|
NM_000057.4(BLM):c.930T>C (p.Ser310=)
|
rs1471248156
|
|
|
NM_000057.4(BLM):c.954C>G (p.Cys318Trp)
|
rs1596221322
|
|
|
NM_000057.4(BLM):c.955C>T (p.Leu319Phe)
|
rs1567036793
|
|
|
NM_000057.4(BLM):c.959+1_959+9del
|
rs765061205
|
|
|
NM_000057.4(BLM):c.959G>C (p.Ser320Thr)
|
rs757112333
|
|
|
NM_000057.4(BLM):c.960-1G>A
|
rs1596223715
|
|
|
NM_000057.4(BLM):c.960-1G>T
|
rs1596223715
|
|
|
NM_000057.4(BLM):c.98+1G>A
|
rs750293380
|
|
|
NM_000057.4(BLM):c.99-9_99-7del
|
rs1229333064
|
|
|
NM_000057.4(BLM):c.995A>T (p.Glu332Val)
|
rs2151152146
|
|
|
NM_000070.2(CAPN3):c.643_663del(p.Ser215_Gly221del)
|
rs863224965
|
|
|
NM_000070.3(CAPN3):c.1002C>T (p.His334=)
|
rs374833797
|
|
|
NM_000070.3(CAPN3):c.1003G>A (p.Ala335Thr)
|
rs779526097
|
|
|
NM_000070.3(CAPN3):c.1123G>C (p.Asp375His)
|
rs2053707997
|
|
|
NM_000070.3(CAPN3):c.1130G>A (p.Ser377Asn)
|
rs760121531
|
|
|
NM_000070.3(CAPN3):c.1227A>G (p.Thr409=)
|
rs111806046
|
|
|
NM_000070.3(CAPN3):c.1251G>A (p.Thr417=)
|
rs151090625
|
|
|
NM_000070.3(CAPN3):c.1293G>A (p.Val431=)
|
rs1009544440
|
|
|
NM_000070.3(CAPN3):c.1327T>C (p.Ser443Pro)
|
rs1595834751
|
|
|
NM_000070.3(CAPN3):c.1333G>A (p.Gly445Arg)
|
rs773827877
|
|
|
NM_000070.3(CAPN3):c.1355-10G>A
|
rs1388234925
|
|
|
NM_000070.3(CAPN3):c.1355-1G>C
|
rs747557404
|
|
|
NM_000070.3(CAPN3):c.1516A>C (p.Ile506Leu)
|
rs140828326
|
|
|
NM_000070.3(CAPN3):c.1584C>A (p.Asn528Lys)
|
rs530529988
|
|
|
NM_000070.3(CAPN3):c.1663G>C (p.Val555Leu)
|
rs138172448
|
|
|
NM_000070.3(CAPN3):c.1699G>T (p.Gly567Trp)
|
rs727503839
|
|
|
NM_000070.3(CAPN3):c.1768G>T (p.Val590Leu)
|
rs370809015
|
|
|
NM_000070.3(CAPN3):c.1795dup (p.Thr599fs)
|
rs80338803
|
|
|
NM_000070.3(CAPN3):c.1800+4G>A
|
rs2054007004
|
|
|
NM_000070.3(CAPN3):c.1896G>A (p.Lys632=)
|
rs746786954
|
|
|
NM_000070.3(CAPN3):c.193C>G (p.His65Asp)
|
rs898013388
|
|
|
NM_000070.3(CAPN3):c.196A>C (p.Lys66Gln)
|
rs2052597232
|
|
|
NM_000070.3(CAPN3):c.1992+1G>T
|
rs863224961
|
|
|
NM_000070.3(CAPN3):c.2036_2037del (p.Thr679fs)
|
rs886042418
|
|
|
NM_000070.3(CAPN3):c.2071G>C (p.Gly691Arg)
|
rs140425651
|
|
|
NM_000070.3(CAPN3):c.2102T>C (p.Ile701Thr)
|
rs1008776680
|
|
|
NM_000070.3(CAPN3):c.2148G>A (p.Glu716=)
|
rs770894443
|
|
|
NM_000070.3(CAPN3):c.222T>G (p.Leu74=)
|
rs551850600
|
|
|
NM_000070.3(CAPN3):c.223dup (p.Tyr75fs)
|
rs398123146
|
|
|
NM_000070.3(CAPN3):c.2314_2317del (p.Asp772fs)
|
rs764086484
|
|
|
NM_000070.3(CAPN3):c.2363G>A (p.Arg788Lys)
|
rs769208910
|
|
|
NM_000070.3(CAPN3):c.281C>T (p.Pro94Leu)
|
rs2052600414
|
|
|
NM_000070.3(CAPN3):c.328C>T (p.Arg110Ter)
|
rs121434545
|
|
|
NM_000070.3(CAPN3):c.397G>A (p.Ala133Thr)
|
rs946415346
|
|
|
NM_000070.3(CAPN3):c.46G>A (p.Glu16Lys)
|
rs772580081
|
|
|
NM_000070.3(CAPN3):c.526G>A (p.Val176Met)
|
rs774114705
|
|
|
NM_000070.3(CAPN3):c.550del (p.Thr184fs)
|
rs80338800
|
|
|
NM_000070.3(CAPN3):c.584A>C (p.Asn195Thr)
|
rs148855999
|
|
|
NM_000070.3(CAPN3):c.584A>G (p.Asn195Ser)
|
rs148855999
|
|
|
NM_000070.3(CAPN3):c.590G>T (p.Arg197Leu)
|
rs768426565
|
|
|
NM_000070.3(CAPN3):c.598_612del (p.Phe200_Leu204del)
|
rs727503837
|
|
|
NM_000070.3(CAPN3):c.60del (p.Pro22fs)
|
rs1566965857
|
|
|
NM_000070.3(CAPN3):c.632+8A>G
|
rs2053447422
|
|
|
NM_000070.3(CAPN3):c.638A>G (p.His213Arg)
|
rs768447053
|
|
|
NM_000070.3(CAPN3):c.673A>G (p.Thr225Ala)
|
rs2053479373
|
|
|
NM_000070.3(CAPN3):c.756GAA[1] (p.Lys254del)
|
rs794727697
|
|
|
NM_000070.3(CAPN3):c.77C>G (p.Pro26Arg)
|
rs762020512
|
|
|
NM_000070.3(CAPN3):c.791G>A (p.Cys264Tyr)
|
rs2053485296
|
|
|
NM_000070.3(CAPN3):c.802-3C>T
|
rs1376586945
|
|
|
NM_000070.3(CAPN3):c.864A>G (p.Ala288=)
|
rs1555420768
|
|
|
NM_000070.3(CAPN3):c.945+5G>A
|
rs773547765
|
|
|
NM_000070.3(CAPN3):c.946-9_946-5del
|
rs758101156
|
|
|
NM_000070.3(CAPN3):c.965A>G (p.Tyr322Cys)
|
rs2053589191
|
|
|
NM_000231.3(SGCG):c.195+4_195+7del
|
rs797045106
|
|
|
NM_000231.3(SGCG):c.217G>A (p.Val73Ile)
|
rs763619480
|
|
|
NM_000231.3(SGCG):c.298-1G>A
|
rs79500874
|
|
|
NM_000231.3(SGCG):c.386-2A>C
|
rs886042757
|
|
|
NM_000231.3(SGCG):c.438C>A (p.Asp146Glu)
|
rs144497243
|
|
|
NM_000231.3(SGCG):c.485C>A (p.Thr162Lys)
|
rs770939408
|
|
|
NM_000231.3(SGCG):c.496C>T (p.Arg166Ter)
|
rs1881219252
|
|
|
NM_000231.3(SGCG):c.507G>T (p.Gly169=)
|
rs199905729
|
|
|
NM_000231.3(SGCG):c.525del (p.Phe175fs)
|
rs786204786
|
|
|
NM_000231.3(SGCG):c.529C>T (p.His177Tyr)
|
rs375592456
|
|
|
NM_000231.3(SGCG):c.551T>G (p.Val184Gly)
|
rs1593095374
|
|
|
NM_000231.3(SGCG):c.57G>T (p.Glu19Asp)
|
rs752669226
|
|
|
NM_000231.3(SGCG):c.607A>G (p.Met203Val)
|
rs1883002488
|
|
|
NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr)
|
rs104894422
|
|
|
NM_000232.5(SGCB):c.112A>C (p.Ser38Arg)
|
rs1456517729
|
|
|
NM_000232.5(SGCB):c.12GGC[5] (p.Ala9dup)
|
rs768838951
|
|
|
NM_000232.5(SGCB):c.12GGC[6] (p.Ala8_Ala9dup)
|
rs768838951
|
|
|
NM_000232.5(SGCB):c.17C>T (p.Ala6Val)
|
rs1414363052
|
|
|
NM_000232.5(SGCB):c.325C>T (p.Arg109Ter)
|
rs750773622
|
|
|
NM_000232.5(SGCB):c.361C>A (p.Pro121Thr)
|
rs764749125
|
|
|
NM_000232.5(SGCB):c.368A>C (p.Tyr123Ser)
|
rs398123263
|
|
|
NM_000232.5(SGCB):c.434T>C (p.Val145Ala)
|
rs1446053409
|
|
|
NM_000232.5(SGCB):c.44A>G (p.Asn15Ser)
|
rs1560568898
|
|
|
NM_000232.5(SGCB):c.698T>C (p.Phe233Ser)
|
rs1578125133
|
|
|
NM_000232.5(SGCB):c.753+10_753+12del
|
rs138604476
|
|
|
NM_000232.5(SGCB):c.87_89del (p.Arg30del)
|
rs780654411
|
|
|
NM_000232.5(SGCB):c.90G>A (p.Arg30=)
|
rs11541942
|
|
|
NM_000232.5(SGCB):c.9_17dup (p.Ala7_Ala9dup)
|
rs1410190129
|
|
|
NM_000232.5(SGCB):c.9_23dup (p.Ala5_Ala9dup)
|
rs781364428
|
|
|
NM_000243.3(MEFV):c.1018G>C (p.Gly340Arg)
|
rs1959002154
|
|
|
NM_000243.3(MEFV):c.1105C>A (p.Pro369Thr)
|
rs11466023
|
|
|
NM_000243.3(MEFV):c.1127A>G (p.Lys376Arg)
|
rs1009404209
|
|
|
NM_000243.3(MEFV):c.1223G>T (p.Arg408Leu)
|
rs11466024
|
|
|
NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu)
|
rs11466026
|
|
|
NM_000243.3(MEFV):c.1352T>G (p.Phe451Cys)
|
rs1958986915
|
|
|
NM_000243.3(MEFV):c.1368A>C (p.Glu456Asp)
|
rs1567233429
|
|
|
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu)
|
rs104895083
|
|
|
NM_000243.3(MEFV):c.1459G>A (p.Val487Met)
|
rs104895100
|
|
|
NM_000243.3(MEFV):c.1622T>C (p.Val541Ala)
|
rs922232615
|
|
|
NM_000243.3(MEFV):c.1736G>A (p.Arg579His)
|
rs574055513
|
|
|
NM_000243.3(MEFV):c.1764G>T (p.Pro588=)
|
rs1231122
|
|
|
NM_000243.3(MEFV):c.1773T>G (p.Ile591Met)
|
rs141706767
|
|
|
NM_000243.3(MEFV):c.1818C>T (p.Thr606=)
|
rs104895213
|
|
|
NM_000243.3(MEFV):c.1969G>A (p.Val657Met)
|
rs1958892149
|
|
|
NM_000243.3(MEFV):c.2032G>A (p.Gly678Arg)
|
rs771759703
|
|
|
NM_000243.3(MEFV):c.2040G>A (p.Met680Ile)
|
rs28940580
|
|
|
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile)
|
rs28940580
|
|
|
NM_000243.3(MEFV):c.2044_2045del (p.Leu682fs)
|
rs1355225244
|
|
|
NM_000243.3(MEFV):c.2055G>T (p.Glu685Asp)
|
rs375378545
|
|
|
NM_000243.3(MEFV):c.2078TGA[1] (p.Met694del)
|
rs104895091
|
|
|
NM_000243.3(MEFV):c.2150G>T (p.Arg717Leu)
|
rs545517350
|
|
|
NM_000243.3(MEFV):c.2229C>G (p.Phe743Leu)
|
rs104895152
|
|
|
NM_000243.3(MEFV):c.2230G>C (p.Ala744Pro)
|
rs61732874
|
|
|
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)
|
rs61732874
|
|
|
NM_000243.3(MEFV):c.2246C>G (p.Ser749Cys)
|
rs104895171
|
|
|
NM_000243.3(MEFV):c.2310_2313del (p.Thr771fs)
|
rs757708595
|
|
|
NM_000243.3(MEFV):c.268G>C (p.Ala90Pro)
|
rs376971129
|
|
|
NM_000243.3(MEFV):c.289C>A (p.Gln97Lys)
|
rs747515115
|
|
|
NM_000243.3(MEFV):c.322A>C (p.Ser108Arg)
|
rs104895103
|
|
|
NM_000243.3(MEFV):c.342G>A (p.Lys114=)
|
rs981883034
|
|
|
NM_000243.3(MEFV):c.343C>A (p.Pro115Thr)
|
rs147557169
|
|
|
NM_000243.3(MEFV):c.374AGGGGAACG[3] (p.125EGN[3])
|
rs104895121
|
|
|
NM_000243.3(MEFV):c.378G>T (p.Gly126=)
|
rs777867857
|
|
|
NM_000243.3(MEFV):c.385G>A (p.Gly129Arg)
|
rs1344302872
|
|
|
NM_000243.3(MEFV):c.414A>G (p.Gly138=)
|
rs224224
|
|
|
NM_000243.3(MEFV):c.497C>T (p.Ser166Leu)
|
rs766670643
|
|
|
NM_000243.3(MEFV):c.511G>A (p.Ala171Thr)
|
rs876660993
|
|
|
NM_000243.3(MEFV):c.532C>T (p.Arg178Trp)
|
rs1555459404
|
|
|
NM_000243.3(MEFV):c.539C>A (p.Pro180Gln)
|
rs104895134
|
|
|
NM_000243.3(MEFV):c.547C>A (p.Pro183Thr)
|
rs202196752
|
|
|
NM_000243.3(MEFV):c.548C>T (p.Pro183Leu)
|
rs777009752
|
|
|
NM_000243.3(MEFV):c.564C>T (p.Pro188=)
|
rs775755423
|
|
|
NM_000243.3(MEFV):c.565_570dup (p.Gly189_Pro190dup)
|
rs761993422
|
|
|
NM_000243.3(MEFV):c.585G>A (p.Glu195=)
|
rs200766991
|
|
|
NM_000243.3(MEFV):c.585G>C (p.Glu195Asp)
|
rs200766991
|
|
|
NM_000243.3(MEFV):c.585G>T (p.Glu195Asp)
|
rs200766991
|
|
|
NM_000243.3(MEFV):c.586G>C (p.Gly196Arg)
|
rs104895179
|
|
|
NM_000243.3(MEFV):c.586G>T (p.Gly196Trp)
|
rs104895179
|
|
|
NM_000243.3(MEFV):c.711G>T (p.Lys237Asn)
|
rs1053594972
|
|
|
NM_000243.3(MEFV):c.803C>T (p.Ala268Val)
|
rs104895123
|
|
|
NM_000243.3(MEFV):c.848C>G (p.Pro283Arg)
|
rs104895119
|
|
|
NM_000243.3(MEFV):c.884dup (p.Gly296fs)
|
rs1301893365
|
|
|
NM_000243.3(MEFV):c.963C>A (p.Asp321Glu)
|
rs771969495
|
|
|
NM_000260.4(MYO7A):c.1003+1G>A
|
rs1952694662
|
|
|
NM_000260.4(MYO7A):c.1004C>T (p.Ala335Val)
|
rs1565349265
|
|
|
NM_000260.4(MYO7A):c.1069T>C (p.Ser357Pro)
|
rs797033992
|
|
|
NM_000260.4(MYO7A):c.1092A>T (p.Pro364=)
|
rs1952856251
|
|
|
NM_000260.4(MYO7A):c.1118G>T (p.Arg373Leu)
|
rs201491278
|
|
|
NM_000260.4(MYO7A):c.1175T>C (p.Leu392Pro)
|
rs1226538179
|
|
|
NM_000260.4(MYO7A):c.1183C>T (p.Arg395Cys)
|
rs782279338
|
|
|
NM_000260.4(MYO7A):c.1191C>T (p.Ala397=)
|
rs557165173
|
|
|
NM_000260.4(MYO7A):c.1213C>T (p.Arg405Trp)
|
rs375745526
|
|
|
NM_000260.4(MYO7A):c.132+6T>C
|
rs781852295
|
|
|
NM_000260.4(MYO7A):c.133-7C>T
|
rs111033221
|
|
|
NM_000260.4(MYO7A):c.1343+8G>A
|
rs2276278
|
|
|
NM_000260.4(MYO7A):c.1344-2A>G
|
rs111033415
|
|
|
NM_000260.4(MYO7A):c.156C>T (p.Asn52=)
|
rs886048669
|
|
|
NM_000260.4(MYO7A):c.1621C>A (p.Pro541Thr)
|
rs781843594
|
|
|
NM_000260.4(MYO7A):c.1623dup (p.Lys542fs)
|
rs782077721
|
|
|
NM_000260.4(MYO7A):c.1655A>G (p.Asn552Ser)
|
rs782043663
|
|
|
NM_000260.4(MYO7A):c.1723G>A (p.Gly575Arg)
|
rs782154632
|
|
|
NM_000260.4(MYO7A):c.1741G>T (p.Val581Phe)
|
rs1953517239
|
|
|
NM_000260.4(MYO7A):c.1817G>A (p.Arg606His)
|
rs782311929
|
|
|
NM_000260.4(MYO7A):c.1868G>A (p.Arg623His)
|
rs111033416
|
|
|
NM_000260.4(MYO7A):c.1868G>T (p.Arg623Leu)
|
rs111033416
|
|
|
NM_000260.4(MYO7A):c.1961G>A (p.Arg654His)
|
rs41298143
|
|
|
NM_000260.4(MYO7A):c.1979G>T (p.Gly660Val)
|
rs1555078946
|
|
|
NM_000260.4(MYO7A):c.2001C>T (p.Ile667=)
|
rs782026699
|
|
|
NM_000260.4(MYO7A):c.2057G>C (p.Arg686Pro)
|
rs781991817
|
|
|
NM_000260.4(MYO7A):c.2119C>A (p.Arg707Ser)
|
rs190624231
|
|
|
NM_000260.4(MYO7A):c.2120G>A (p.Arg707His)
|
rs782176754
|
|
|
NM_000260.4(MYO7A):c.2248C>T (p.Leu750Phe)
|
rs1224881006
|
|
|
NM_000260.4(MYO7A):c.2283-1G>T
|
rs397516295
|
|
|
NM_000260.4(MYO7A):c.2447G>A (p.Arg816His)
|
rs148343670
|
|
|
NM_000260.4(MYO7A):c.2468G>A (p.Arg823His)
|
rs533027065
|
|
|
NM_000260.4(MYO7A):c.2468G>C (p.Arg823Pro)
|
rs533027065
|
|
|
NM_000260.4(MYO7A):c.2488C>T (p.Arg830Cys)
|
rs797044493
|
|
|
NM_000260.4(MYO7A):c.2522T>C (p.Leu841Pro)
|
rs397516296
|
|
|
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp)
|
rs200454015
|
|
|
NM_000260.4(MYO7A):c.2636A>C (p.Lys879Thr)
|
rs1591374351
|
|
|
NM_000260.4(MYO7A):c.2649G>A (p.Glu883=)
|
rs1955078498
|
|
|
NM_000260.4(MYO7A):c.2662A>G (p.Lys888Glu)
|
rs782227741
|
|
|
NM_000260.4(MYO7A):c.2717G>T (p.Arg906Leu)
|
rs868977760
|
|
|
NM_000260.4(MYO7A):c.2746A>G (p.Lys916Glu)
|
rs1555084090
|
|
|
NM_000260.4(MYO7A):c.2759G>T (p.Arg920Leu)
|
rs565162134
|
|
|
NM_000260.4(MYO7A):c.2905-1G>C
|
rs1171417339
|
|
|
NM_000260.4(MYO7A):c.2914C>T (p.Arg972Ter)
|
rs782281371
|
|
|
NM_000260.4(MYO7A):c.3109-16_3109-15insTGCGCTCTGGCCTCTGACATGCGCGCTCTGGCCTCTGACATG
|
rs149931272
|
|
|
NM_000260.4(MYO7A):c.3193A>G (p.Ser1065Gly)
|
rs763798045
|
|
|
NM_000260.4(MYO7A):c.3229A>T (p.Thr1077Ser)
|
rs1555085543
|
|
|
NM_000260.4(MYO7A):c.3260T>G (p.Leu1087Arg)
|
rs375050157
|
|
|
NM_000260.4(MYO7A):c.3292C>G (p.Leu1098Val)
|
rs1591386678
|
|
|
NM_000260.4(MYO7A):c.3396C>T (p.Asp1132=)
|
rs543234546
|
|
|
NM_000260.4(MYO7A):c.3489G>A (p.Leu1163=)
|
rs1555087287
|
|
|
NM_000260.4(MYO7A):c.3503+12_3503+33del
|
rs111033223
|
|
|
NM_000260.4(MYO7A):c.3503+8C>A
|
rs1955532068
|
|
|
NM_000260.4(MYO7A):c.3509A>G (p.Glu1170Gly)
|
rs1555090196
|
|
|
NM_000260.4(MYO7A):c.358C>T (p.Arg120Cys)
|
rs397516302
|
|
|
NM_000260.4(MYO7A):c.3594C>T (p.Cys1198=)
|
rs782694195
|
|
|
NM_000260.4(MYO7A):c.3607G>T (p.Ala1203Ser)
|
rs568301918
|
|
|
NM_000260.4(MYO7A):c.3631-6C>A
|
rs1047678585
|
|
|
NM_000260.4(MYO7A):c.3688C>T (p.Arg1230Cys)
|
rs776862829
|
|
|
NM_000260.4(MYO7A):c.3696_3706del (p.Arg1232fs)
|
rs397516303
|
|
|
NM_000260.4(MYO7A):c.3764del (p.Lys1255fs)
|
rs111033347
|
|
|
NM_000260.4(MYO7A):c.388A>G (p.Met130Val)
|
rs782473441
|
|
|
NM_000260.4(MYO7A):c.3891C>A (p.Phe1297Leu)
|
rs375475374
|
|
|
NM_000260.4(MYO7A):c.3924+31_3924+46del
|
rs759572835
|
|
|
NM_000260.4(MYO7A):c.3979G>A (p.Glu1327Lys)
|
rs373169422
|
|
|
NM_000260.4(MYO7A):c.4035C>G (p.Phe1345Leu)
|
rs1956138822
|
|
|
NM_000260.4(MYO7A):c.4075G>A (p.Glu1359Lys)
|
rs753672693
|
|
|
NM_000260.4(MYO7A):c.4084G>A (p.Val1362Met)
|
rs774773009
|
|
|
NM_000260.4(MYO7A):c.4153-7C>A
|
rs369489756
|
|
|
NM_000260.4(MYO7A):c.4153-7C>G
|
rs369489756
|
|
|
NM_000260.4(MYO7A):c.4153-8C>G
|
rs143216377
|
|
|
NM_000260.4(MYO7A):c.4171C>G (p.Leu1391Val)
|
rs727504594
|
|
|
NM_000260.4(MYO7A):c.4194A>G (p.Val1398=)
|
rs1591438864
|
|
|
NM_000260.4(MYO7A):c.4222C>T (p.Arg1408Cys)
|
rs377391891
|
|
|
NM_000260.4(MYO7A):c.4327A>C (p.Ile1443Leu)
|
rs762660033
|
|
|
NM_000260.4(MYO7A):c.4351G>T (p.Ala1451Ser)
|
rs754360346
|
|
|
NM_000260.4(MYO7A):c.4379G>C (p.Ser1460Thr)
|
rs746713762
|
|
|
NM_000260.4(MYO7A):c.4465G>A (p.Val1489Ile)
|
rs1265094428
|
|
|
NM_000260.4(MYO7A):c.4568+10C>A
|
rs367801483
|
|
|
NM_000260.4(MYO7A):c.4592T>C (p.Leu1531Pro)
|
rs1956914595
|
|
|
NM_000260.4(MYO7A):c.4593G>T (p.Leu1531=)
|
rs762011600
|
|
|
NM_000260.4(MYO7A):c.4676C>T (p.Ser1559Phe)
|
rs773381538
|
|
|
NM_000260.4(MYO7A):c.4759G>T (p.Ala1587Ser)
|
rs1956929954
|
|
|
NM_000260.4(MYO7A):c.4791C>A (p.Phe1597Leu)
|
rs1956933257
|
|
|
NM_000260.4(MYO7A):c.4868G>A (p.Gly1623Asp)
|
rs1265861779
|
|
|
NM_000260.4(MYO7A):c.4940G>C (p.Gly1647Ala)
|
rs1957063555
|
|
|
NM_000260.4(MYO7A):c.4951G>A (p.Gly1651Ser)
|
rs1201586094
|
|
|
NM_000260.4(MYO7A):c.4953C>G (p.Gly1651=)
|
rs1957064908
|
|
|
NM_000260.4(MYO7A):c.5018T>A (p.Val1673Asp)
|
rs1957069970
|
|
|
NM_000260.4(MYO7A):c.5021C>A (p.Thr1674Asn)
|
rs766461538
|
|
|
NM_000260.4(MYO7A):c.5075A>G (p.Gln1692Arg)
|
rs1957120301
|
|
|
NM_000260.4(MYO7A):c.5098C>T (p.Leu1700=)
|
rs1486805195
|
|
|
NM_000260.4(MYO7A):c.5146G>A (p.Glu1716Lys)
|
rs1236207116
|
|
|
NM_000260.4(MYO7A):c.5227C>A (p.Arg1743=)
|
rs111033287
|
|
|
NM_000260.4(MYO7A):c.5227C>T (p.Arg1743Trp)
|
rs111033287
|
|
|
NM_000260.4(MYO7A):c.5253G>A (p.Pro1751=)
|
rs377388669
|
|
|
NM_000260.4(MYO7A):c.5263G>A (p.Ala1755Thr)
|
rs762131185
|
|
|
NM_000260.4(MYO7A):c.52C>T (p.Gln18Ter)
|
rs1555051455
|
|
|
NM_000260.4(MYO7A):c.5324T>A (p.Ile1775Asn)
|
rs115123584
|
|
|
NM_000260.4(MYO7A):c.5327-5C>G
|
rs1957264472
|
|
|
NM_000260.4(MYO7A):c.5428A>T (p.Lys1810Ter)
|
rs778009227
|
|
|
NM_000260.4(MYO7A):c.5445G>A (p.Val1815=)
|
rs910989813
|
|
|
NM_000260.4(MYO7A):c.5458C>G (p.Gln1820Glu)
|
rs369973293
|
|
|
NM_000260.4(MYO7A):c.5494C>A (p.Arg1832=)
|
rs748080151
|
|
|
NM_000260.4(MYO7A):c.5494C>T (p.Arg1832Trp)
|
rs748080151
|
|
|
NM_000260.4(MYO7A):c.5598C>T (p.Leu1866=)
|
rs111033504
|
|
|
NM_000260.4(MYO7A):c.5749G>T (p.Glu1917Ter)
|
rs780609120
|
|
|
NM_000260.4(MYO7A):c.5771C>A (p.Ala1924Asp)
|
rs1957511416
|
|
|
NM_000260.4(MYO7A):c.578C>A (p.Thr193Asn)
|
rs1188616455
|
|
|
NM_000260.4(MYO7A):c.578C>T (p.Thr193Ile)
|
rs1188616455
|
|
|
NM_000260.4(MYO7A):c.5809C>T (p.Leu1937Phe)
|
rs1957516566
|
|
|
NM_000260.4(MYO7A):c.5824G>A (p.Gly1942Arg)
|
rs111033192
|
|
|
NM_000260.4(MYO7A):c.5826A>G (p.Gly1942=)
|
rs1957519037
|
|
|
NM_000260.4(MYO7A):c.5860C>A (p.Leu1954Ile)
|
rs948962
|
|
|
NM_000260.4(MYO7A):c.5860C>G (p.Leu1954Val)
|
rs948962
|
|
|
NM_000260.4(MYO7A):c.5880CTT[2] (p.Phe1963del)
|
rs111033232
|
|
|
NM_000260.4(MYO7A):c.5899C>G (p.Arg1967Gly)
|
rs376764423
|
|
|
NM_000260.4(MYO7A):c.6025del (p.Ala2009fs)
|
rs397516326
|
|
|
NM_000260.4(MYO7A):c.6048C>T (p.Tyr2016=)
|
rs1957653909
|
|
|
NM_000260.4(MYO7A):c.6062A>G (p.Lys2021Arg)
|
rs876657655
|
|
|
NM_000260.4(MYO7A):c.6154T>G (p.Tyr2052Asp)
|
rs1957846244
|
|
|
NM_000260.4(MYO7A):c.6235C>T (p.Arg2079Trp)
|
rs759614902
|
|
|
NM_000260.4(MYO7A):c.6243C>A (p.Ile2081=)
|
rs727504834
|
|
|
NM_000260.4(MYO7A):c.6280G>C (p.Glu2094Gln)
|
rs887599531
|
|
|
NM_000260.4(MYO7A):c.6352A>G (p.Lys2118Glu)
|
rs1957914664
|
|
|
NM_000260.4(MYO7A):c.6381G>A (p.Glu2127=)
|
rs1307826366
|
|
|
NM_000260.4(MYO7A):c.6384CCT[1] (p.Leu2130del)
|
rs539755538
|
|
|
NM_000260.4(MYO7A):c.639C>G (p.Phe213Leu)
|
rs540197003
|
|
|
NM_000260.4(MYO7A):c.6431A>G (p.Lys2144Arg)
|
rs1957976673
|
|
|
NM_000260.4(MYO7A):c.6475A>G (p.Asn2159Asp)
|
rs1555111106
|
|
|
NM_000260.4(MYO7A):c.6509C>T (p.Thr2170Ile)
|
rs544709413
|
|
|
NM_000260.4(MYO7A):c.6560G>A (p.Gly2187Asp)
|
rs397516332
|
|
|
NM_000260.4(MYO7A):c.6577C>T (p.Leu2193Phe)
|
rs397516333
|
|
|
NM_000260.4(MYO7A):c.721C>T (p.Arg241Cys)
|
rs782166819
|
|
|
NM_000260.4(MYO7A):c.73G>A (p.Gly25Arg)
|
rs782252317
|
|
|
NM_000260.4(MYO7A):c.779A>C (p.Glu260Ala)
|
rs782636303
|
|
|
NM_000260.4(MYO7A):c.93C>A (p.Cys31Ter)
|
rs35689081
|
|
|
NM_000260.4(MYO7A):c.93C>T (p.Cys31=)
|
rs35689081
|
|
|
NM_000260.4(MYO7A):c.968C>G (p.Ala323Gly)
|
rs1952692105
|
|
|
NM_000271.5(NPC1):c.1089G>T (p.Ala363=)
|
rs901122746
|
|
|
NM_000271.5(NPC1):c.1318C>T (p.Leu440=)
|
rs1390796169
|
|
|
NM_000271.5(NPC1):c.1411C>T (p.Pro471Ser)
|
rs2058927956
|
|
|
NM_000271.5(NPC1):c.1554-1009G>A
|
rs1055204017
|
|
|
NM_000271.5(NPC1):c.1554-1057G>C
|
rs189881566
|
|
|
NM_000271.5(NPC1):c.175G>T (p.Val59Leu)
|
rs1365313736
|
|
|
NM_000271.5(NPC1):c.180+8C>A
|
rs778096289
|
|
|
NM_000271.5(NPC1):c.1819C>T (p.Arg607Ter)
|
rs377130051
|
|
|
NM_000271.5(NPC1):c.1918G>A (p.Gly640Arg)
|
rs2058768195
|
|
|
NM_000271.5(NPC1):c.1947+10G>C
|
rs71534236
|
|
|
NM_000271.5(NPC1):c.1947+7_1947+8insCGGG
|
rs1555634618
|
|
|
NM_000271.5(NPC1):c.1947+9_1947+10insGGAG
|
rs772150994
|
|
|
NM_000271.5(NPC1):c.198CTT[1] (p.Phe68del)
|
rs1555641909
|
|
|
NM_000271.5(NPC1):c.2079G>A (p.Leu693=)
|
rs2058754303
|
|
|
NM_000271.5(NPC1):c.2131-4del
|
rs11299077
|
|
|
NM_000271.5(NPC1):c.2131-5_2131-4del
|
rs11299077
|
|
|
NM_000271.5(NPC1):c.2213C>A (p.Ser738Ter)
|
rs777286835
|
|
|
NM_000271.5(NPC1):c.2300C>G (p.Ala767Gly)
|
rs748589476
|
|
|
NM_000271.5(NPC1):c.2428G>T (p.Val810Phe)
|
rs145362908
|
|
|
NM_000271.5(NPC1):c.2654C>T (p.Ala885Val)
|
rs769193340
|
|
|
NM_000271.5(NPC1):c.2974G>A (p.Gly992Arg)
|
rs80358254
|
|
|
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp)
|
rs80358254
|
|
|
NM_000271.5(NPC1):c.3001A>G (p.Met1001Val)
|
rs2058666849
|
|
|
NM_000271.5(NPC1):c.3042-1G>A
|
rs771806960
|
|
|
NM_000271.5(NPC1):c.3085C>T (p.His1029Tyr)
|
rs2058638089
|
|
|
NM_000271.5(NPC1):c.3175C>T (p.Arg1059Ter)
|
rs786204455
|
|
|
NM_000271.5(NPC1):c.3246-2A>G
|
rs886042268
|
|
|
NM_000271.5(NPC1):c.3281T>C (p.Ile1094Thr)
|
rs1338658857
|
|
|
NM_000271.5(NPC1):c.3425T>C (p.Met1142Thr)
|
rs778878523
|
|
|
NM_000271.5(NPC1):c.352_353del (p.Gln119fs)
|
rs759075595
|
|
|
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=)
|
rs55724504
|
|
|
NM_000271.5(NPC1):c.3693C>T (p.Ala1231=)
|
rs1374064168
|
|
|
NM_000271.5(NPC1):c.3734_3735del (p.Pro1245fs)
|
rs1064794009
|
|
|
NM_000271.5(NPC1):c.44T>G (p.Leu15Arg)
|
rs2059417979
|
|
|
NM_000271.5(NPC1):c.476C>T (p.Ala159Val)
|
rs2059038990
|
|
|
NM_000271.5(NPC1):c.569T>C (p.Ile190Thr)
|
rs1555638862
|
|
|
NM_000271.5(NPC1):c.761C>A (p.Pro254Gln)
|
rs752145311
|
|
|
NM_000271.5(NPC1):c.852del (p.Phe284fs)
|
rs762124334
|
|
|
NM_000271.5(NPC1):c.966C>T (p.Ser322=)
|
rs61731965
|
|
|
NM_000271.5(NPC1):c.973_974dup (p.Asp325fs)
|
rs886044580
|
|
|
NM_000277.3(PAH):c.1055del (p.Gly352fs)
|
rs62516094
|
|
|
NM_000277.3(PAH):c.105A>G (p.Ile35Met)
|
rs768048739
|
|
|
NM_000277.3(PAH):c.1065+9T>G
|
rs1874730997
|
|
|
NM_000277.3(PAH):c.1066-7C>T
|
rs1242756437
|
|
|
NM_000277.3(PAH):c.1068C>A (p.Tyr356Ter)
|
rs62516095
|
|
|
NM_000277.3(PAH):c.1089G>C (p.Lys363Asn)
|
rs63329263
|
|
|
NM_000277.3(PAH):c.1089del (p.Lys363fs)
|
rs5030654
|
|
|
NM_000277.3(PAH):c.1120A>G (p.Ile374Val)
|
rs769076484
|
|
|
NM_000277.3(PAH):c.1134T>C (p.Thr378=)
|
rs1874693005
|
|
|
NM_000277.3(PAH):c.113TCT[1] (p.Phe39del)
|
rs199475565
|
|
|
NM_000277.3(PAH):c.1197A>T (p.Val399=)
|
rs199475584
|
|
|
NM_000277.3(PAH):c.1199+1G>A
|
rs62509015
|
|
|
NM_000277.3(PAH):c.1199+1G>C
|
rs62509015
|
|
|
NM_000277.3(PAH):c.1200-2A>G
|
rs1592945607
|
|
|
NM_000277.3(PAH):c.1238G>C (p.Arg413Pro)
|
rs79931499
|
|
|
NM_000277.3(PAH):c.1262T>G (p.Ile421Ser)
|
rs199475696
|
|
|
NM_000277.3(PAH):c.1301C>A (p.Ala434Asp)
|
rs199475659
|
|
|
NM_000277.3(PAH):c.1334G>T (p.Cys445Phe)
|
rs1874484048
|
|
|
NM_000277.3(PAH):c.165del (p.Phe55fs)
|
rs199475566
|
|
|
NM_000277.3(PAH):c.168+1G>A
|
rs62514898
|
|
|
NM_000277.3(PAH):c.208_210del (p.Ser70del)
|
rs62642094
|
|
|
NM_000277.3(PAH):c.266dup (p.Ala90fs)
|
rs62506950
|
|
|
NM_000277.3(PAH):c.281TCA[1] (p.Ile95del)
|
rs62508727
|
|
|
NM_000277.3(PAH):c.353-7_353-5dup
|
rs1452763334
|
|
|
NM_000277.3(PAH):c.442-1G>A
|
rs62514907
|
|
|
NM_000277.3(PAH):c.456T>C (p.Pro152=)
|
rs377244118
|
|
|
NM_000277.3(PAH):c.47_48del (p.Leu15_Ser16insTer)
|
rs62642906
|
|
|
NM_000277.3(PAH):c.498C>G (p.Tyr166Ter)
|
rs199475645
|
|
|
NM_000277.3(PAH):c.500A>G (p.Asn167Ser)
|
rs77554925
|
|
|
NM_000277.3(PAH):c.500A>T (p.Asn167Ile)
|
rs77554925
|
|
|
NM_000277.3(PAH):c.503del (p.Tyr168fs)
|
rs199475661
|
|
|
NM_000277.3(PAH):c.509+1G>A
|
rs63102461
|
|
|
NM_000277.3(PAH):c.510-5T>A
|
rs1875378128
|
|
|
NM_000277.3(PAH):c.510T>A (p.His170Gln)
|
rs199475652
|
|
|
NM_000277.3(PAH):c.510T>G (p.His170Gln)
|
rs199475652
|
|
|
NM_000277.3(PAH):c.527G>A (p.Arg176Gln)
|
rs74486803
|
|
|
NM_000277.3(PAH):c.527G>T (p.Arg176Leu)
|
rs74486803
|
|
|
NM_000277.3(PAH):c.529G>A (p.Val177Met)
|
rs199475602
|
|
|
NM_000277.3(PAH):c.529G>C (p.Val177Leu)
|
rs199475602
|
|
|
NM_000277.3(PAH):c.538A>G (p.Met180Val)
|
rs1875373366
|
|
|
NM_000277.3(PAH):c.54T>C (p.Phe18=)
|
rs1878411076
|
|
|
NM_000277.3(PAH):c.592_613del (p.Tyr198fs)
|
rs199475697
|
|
|
NM_000277.3(PAH):c.601C>T (p.His201Tyr)
|
rs62517205
|
|
|
NM_000277.3(PAH):c.618C>A (p.Tyr206Ter)
|
rs62517201
|
|
|
NM_000277.3(PAH):c.632C>T (p.Pro211Leu)
|
rs281865443
|
|
|
NM_000277.3(PAH):c.632del (p.Pro211fs)
|
rs62514929
|
|
|
NM_000277.3(PAH):c.638T>C (p.Leu213Pro)
|
rs62516109
|
|
|
NM_000277.3(PAH):c.648C>G (p.Tyr216Ter)
|
rs62509013
|
|
|
NM_000277.3(PAH):c.664_665del (p.Glu221_Asp222insTer)
|
rs62514936
|
|
|
NM_000277.3(PAH):c.691T>C (p.Ser231Pro)
|
rs5030845
|
|
|
NM_000277.3(PAH):c.722G>A (p.Arg241His)
|
rs62508730
|
|
|
NM_000277.3(PAH):c.754C>T (p.Arg252Trp)
|
rs5030847
|
|
|
NM_000277.3(PAH):c.770G>T (p.Gly257Val)
|
rs62642908
|
|
|
NM_000277.3(PAH):c.805A>C (p.Ile269Leu)
|
rs62508692
|
|
|
NM_000277.3(PAH):c.822_832del (p.Lys274fs)
|
rs199475581
|
|
|
NM_000277.3(PAH):c.833C>A (p.Thr278Asn)
|
rs62507262
|
|
|
NM_000277.3(PAH):c.833C>T (p.Thr278Ile)
|
rs62507262
|
|
|
NM_000277.3(PAH):c.912G>A (p.Gln304=)
|
rs199475583
|
|
|
NM_000277.3(PAH):c.929C>T (p.Ser310Phe)
|
rs62642913
|
|
|
NM_000277.3(PAH):c.974A>G (p.Tyr325Cys)
|
rs62508578
|
|
|
NM_000287.4(PEX6):c.1226T>C (p.Leu409Ser)
|
rs1355523119
|
|
|
NM_000287.4(PEX6):c.1234-8_1234-7dup
|
rs200121485
|
|
|
NM_000287.4(PEX6):c.1255G>C (p.Val419Leu)
|
rs773054165
|
|
|
NM_000287.4(PEX6):c.1310G>A (p.Gly437Asp)
|
rs771063294
|
|
|
NM_000287.4(PEX6):c.1314_1321del (p.Glu439fs)
|
rs267608216
|
|
|
NM_000287.4(PEX6):c.1401_1403del (p.Leu468del)
|
rs1222318292
|
|
|
NM_000287.4(PEX6):c.1513G>A (p.Gly505Arg)
|
rs1769929969
|
|
|
NM_000287.4(PEX6):c.1565G>A (p.Arg522Gln)
|
rs374396138
|
|
|
NM_000287.4(PEX6):c.1774G>C (p.Glu592Gln)
|
rs375288192
|
|
|
NM_000287.4(PEX6):c.1833C>G (p.His611Gln)
|
rs1335182312
|
|
|
NM_000287.4(PEX6):c.1935A>C (p.Ala645=)
|
rs1769827119
|
|
|
NM_000287.4(PEX6):c.1947del (p.Ile650fs)
|
rs267608227
|
|
|
NM_000287.4(PEX6):c.2094+4G>A
|
rs943511270
|
|
|
NM_000287.4(PEX6):c.2399T>C (p.Ile800Thr)
|
rs748244253
|
|
|
NM_000287.4(PEX6):c.2635C>G (p.Gln879Glu)
|
rs1769709206
|
|
|
NM_000287.4(PEX6):c.2702T>C (p.Val901Ala)
|
rs1209841271
|
|
|
NM_000287.4(PEX6):c.277CGGGCG[1] (p.93RA[1])
|
rs61753208
|
|
|
NM_000287.4(PEX6):c.2816C>G (p.Pro939Arg)
|
rs1129187
|
|
|
NM_000287.4(PEX6):c.2866G>T (p.Ala956Ser)
|
rs774145857
|
|
|
NM_000287.4(PEX6):c.2907G>C (p.Arg969=)
|
rs145243129
|
|
|
NM_000287.4(PEX6):c.311del (p.Gly104fs)
|
rs61753209
|
|
|
NM_000287.4(PEX6):c.336G>T (p.Leu112=)
|
rs1194598013
|
|
|
NM_000287.4(PEX6):c.346C>T (p.Leu116Phe)
|
rs1770429515
|
|
|
NM_000287.4(PEX6):c.751C>G (p.Leu251Val)
|
rs769332435
|
|
|
NM_000287.4(PEX6):c.855C>A (p.Pro285=)
|
rs757897959
|
|
|
NM_000287.4(PEX6):c.948A>T (p.Pro316=)
|
rs781704566
|
|
|
NM_000288.4(PEX7):c.330C>T (p.His110=)
|
rs199648976
|
|
|
NM_000288.4(PEX7):c.449C>T (p.Thr150Ile)
|
rs957954726
|
|
|
NM_000288.4(PEX7):c.748-4G>T
|
rs74658757
|
|
|
NM_000288.4(PEX7):c.760C>T (p.His254Tyr)
|
rs1775195476
|
|
|
NM_000317.3(PTS):c.-24_9del
|
rs2135407114
|
|
|
NM_000317.3(PTS):c.148G>A (p.Gly50Arg)
|
rs922940879
|
|
|
NM_000317.3(PTS):c.166G>A (p.Val56Met)
|
rs104894277
|
|
|
NM_000317.3(PTS):c.166GTG[1] (p.Val57del)
|
rs770387277
|
|
|
NM_000317.3(PTS):c.259C>T (p.Pro87Ser)
|
rs104894276
|
|
|
NM_000317.3(PTS):c.393del (p.Val132fs)
|
rs780332520
|
|
|
NM_000317.3(PTS):c.400G>T (p.Glu134Ter)
|
rs779681799
|
|
|
NM_000317.3(PTS):c.438G>C (p.Ter146Tyr)
|
rs1859973316
|
|
|
NM_000317.3(PTS):c.73C>T (p.Arg25Ter)
|
rs1167104933
|
|
|
NM_000318.3(PEX2):c.279_283del (p.Arg94fs)
|
rs61752122
|
|
|
NM_000318.3(PEX2):c.310dup (p.Ile104fs)
|
rs1235008965
|
|
|
NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer)
|
rs764771123
|
|
|
NM_000318.3(PEX2):c.54C>A (p.Ser18Arg)
|
rs545785018
|
|
|
NM_000318.3(PEX2):c.571A>C (p.Met191Leu)
|
rs747946744
|
|
|
NM_000318.3(PEX2):c.717C>T (p.Thr239=)
|
rs2132043284
|
|
|
NM_000318.3(PEX2):c.733G>C (p.Ala245Pro)
|
rs112108739
|
|
|
NM_000318.3(PEX2):c.825C>T (p.Asp275=)
|
rs367649632
|
|
|
NM_000318.3(PEX2):c.915T>A (p.Leu305=)
|
rs1806889622
|
|
|
NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs)
|
rs62642583
|
|
|
NM_000329.3(RPE65):c.1067del (p.Asn356fs)
|
rs281865520
|
|
|
NM_000329.3(RPE65):c.1067dup (p.Asn356fs)
|
rs281865520
|
|
|
NM_000329.3(RPE65):c.1152C>G (p.Val384=)
|
rs1571158917
|
|
|
NM_000329.3(RPE65):c.1301C>A (p.Ala434Glu)
|
rs34627040
|
|
|
NM_000329.3(RPE65):c.1302G>A (p.Ala434=)
|
rs62636301
|
|
|
NM_000329.3(RPE65):c.1404_1413del (p.Glu469fs)
|
rs2100806889
|
|
|
NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp)
|
rs62653015
|
|
|
NM_000329.3(RPE65):c.1454T>C (p.Val485Ala)
|
rs1645808193
|
|
|
NM_000329.3(RPE65):c.1574C>A (p.Thr525Asn)
|
rs879123797
|
|
|
NM_000329.3(RPE65):c.293T>C (p.Ile98Thr)
|
rs1645930635
|
|
|
NM_000329.3(RPE65):c.354-1G>A
|
rs2100827985
|
|
|
NM_000329.3(RPE65):c.432C>T (p.Tyr144=)
|
rs56021047
|
|
|
NM_000329.3(RPE65):c.440_441del (p.Thr147fs)
|
rs1201299067
|
|
|
NM_000329.3(RPE65):c.505T>C (p.Cys169Arg)
|
rs1645898589
|
|
|
NM_000329.3(RPE65):c.58G>A (p.Glu20Lys)
|
rs755545288
|
|
|
NM_000329.3(RPE65):c.718G>T (p.Val240Phe)
|
rs192907397
|
|
|
NM_000329.3(RPE65):c.746A>G (p.Tyr249Cys)
|
rs373652862
|
|
|
NM_000329.3(RPE65):c.751G>A (p.Val251Ile)
|
rs1325815513
|
|
|
NM_000329.3(RPE65):c.893del (p.Lys298fs)
|
rs61752902
|
|
|
NM_000329.3(RPE65):c.94G>T (p.Gly32Cys)
|
rs768448761
|
|
|
NM_000329.3(RPE65):c.975T>C (p.Ile325=)
|
rs761227832
|
|
|
NM_000360.4(TH):c.*9C>A
|
rs762091461
|
|
|
NM_000360.4(TH):c.1073C>G (p.Ala358Gly)
|
rs1564917127
|
|
|
NM_000360.4(TH):c.1086A>C (p.Glu362Asp)
|
rs1846080018
|
|
|
NM_000360.4(TH):c.1105-5C>G
|
rs535794692
|
|
|
NM_000360.4(TH):c.1170C>G (p.Ala390=)
|
rs199839852
|
|
|
NM_000360.4(TH):c.1171G>A (p.Gly391Arg)
|
rs1243080287
|
|
|
NM_000360.4(TH):c.1188C>T (p.Tyr396=)
|
rs375428556
|
|
|
NM_000360.4(TH):c.1200+2T>C
|
rs2133690169
|
|
|
NM_000360.4(TH):c.120C>T (p.Ser40=)
|
rs766048900
|
|
|
NM_000360.4(TH):c.1215G>A (p.Glu405=)
|
rs1590165298
|
|
|
NM_000360.4(TH):c.1227T>C (p.Ile409=)
|
rs546226132
|
|
|
NM_000360.4(TH):c.1228C>T (p.Arg410Trp)
|
rs575326605
|
|
|
NM_000360.4(TH):c.12C>A (p.Pro4=)
|
rs147131010
|
|
|
NM_000360.4(TH):c.1333A>G (p.Arg445Gly)
|
rs1846054204
|
|
|
NM_000360.4(TH):c.133G>A (p.Ala45Thr)
|
rs1846204853
|
|
|
NM_000360.4(TH):c.1380C>A (p.Asp460Glu)
|
rs748364426
|
|
|
NM_000360.4(TH):c.1442G>A (p.Gly481Asp)
|
rs564949885
|
|
|
NM_000360.4(TH):c.145C>T (p.Arg49Trp)
|
rs1312843586
|
|
|
NM_000360.4(TH):c.202C>T (p.Leu68=)
|
rs372393199
|
|
|
NM_000360.4(TH):c.203del (p.Leu68fs)
|
rs1554923852
|
|
|
NM_000360.4(TH):c.284C>G (p.Ala95Gly)
|
rs769126179
|
|
|
NM_000360.4(TH):c.284C>T (p.Ala95Val)
|
rs769126179
|
|
|
NM_000360.4(TH):c.293G>C (p.Arg98Pro)
|
rs375214998
|
|
|
NM_000360.4(TH):c.344C>T (p.Thr115Ile)
|
rs756013579
|
|
|
NM_000360.4(TH):c.44G>A (p.Arg15His)
|
rs199648386
|
|
|
NM_000360.4(TH):c.576+8G>T
|
rs372753775
|
|
|
NM_000360.4(TH):c.601C>T (p.Gln201Ter)
|
rs1057517423
|
|
|
NM_000360.4(TH):c.662G>T (p.Arg221Leu)
|
rs150559011
|
|
|
NM_000360.4(TH):c.730G>T (p.Ala244Ser)
|
rs759968927
|
|
|
NM_000360.4(TH):c.799G>C (p.Asp267His)
|
rs1057524283
|
|
|
NM_000360.4(TH):c.81G>A (p.Glu27=)
|
rs139742336
|
|
|
NM_000360.4(TH):c.81G>T (p.Glu27Asp)
|
rs139742336
|
|
|
NM_000360.4(TH):c.841+5G>A
|
rs1846109018
|
|
|
NM_000360.4(TH):c.951G>A (p.Ala317=)
|
rs1590167106
|
|
|
NM_000360.4(TH):c.978-6G>A
|
rs75487597
|
|
|
NM_000370.3(TTPA):c.123G>A (p.Pro41=)
|
rs1368032681
|
|
|
NM_000370.3(TTPA):c.131C>T (p.Pro44Leu)
|
rs928983374
|
|
|
NM_000370.3(TTPA):c.143C>T (p.Thr48Ile)
|
rs2129795826
|
|
|
NM_000370.3(TTPA):c.166C>T (p.Leu56=)
|
rs1482746572
|
|
|
NM_000370.3(TTPA):c.177G>C (p.Arg59=)
|
rs1805742361
|
|
|
NM_000370.3(TTPA):c.359-3del
|
rs398123340
|
|
|
NM_000370.3(TTPA):c.36G>T (p.Pro12=)
|
rs773911591
|
|
|
NM_000370.3(TTPA):c.487del (p.Trp163fs)
|
rs397515378
|
|
|
NM_000370.3(TTPA):c.744del (p.Glu249fs)
|
rs397515377
|
|
|
NM_000382.3(ALDH3A2):c.1108-1G>C
|
rs1036733598
|
|
|
NM_000382.3(ALDH3A2):c.1297_1298del (p.Glu433fs)
|
rs387906256
|
|
|
NM_000382.3(ALDH3A2):c.25_50del (p.Arg9fs)
|
rs767751416
|
|
|
NM_000382.3(ALDH3A2):c.28C>T (p.Gln10Ter)
|
rs72547554
|
|
|
NM_000382.3(ALDH3A2):c.352A>G (p.Thr118Ala)
|
|
|
|
NM_000382.3(ALDH3A2):c.471+1del
|
rs786204741
|
|
|
NM_000382.3(ALDH3A2):c.681-37_681-30del
|
rs3034928
|
|
|
NM_000382.3(ALDH3A2):c.798+1del
|
rs757359379
|
|
|
NM_000441.1(SLC26A4):c.1342-2_1343dup
|
rs111033407
|
|
|
NM_000441.2(SLC26A4):c.-66C>G
|
rs17154282
|
|
|
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val)
|
rs146281367
|
|
|
NM_000441.2(SLC26A4):c.1174A>T (p.Asn392Tyr)
|
rs201562855
|
|
|
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs)
|
rs397516413
|
|
|
NM_000441.2(SLC26A4):c.1204G>A (p.Val402Met)
|
rs397516414
|
|
|
NM_000441.2(SLC26A4):c.1262A>G (p.Gln421Arg)
|
rs201660407
|
|
|
NM_000441.2(SLC26A4):c.1264-1G>C
|
rs111033311
|
|
|
NM_000441.2(SLC26A4):c.1264-4C>T
|
rs1488973035
|
|
|
NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del)
|
rs111033306
|
|
|
NM_000441.2(SLC26A4):c.1520del (p.Leu506_Leu507insTer)
|
rs786204601
|
|
|
NM_000441.2(SLC26A4):c.1547dup (p.Ser517fs)
|
rs786204450
|
|
|
NM_000441.2(SLC26A4):c.164+1del
|
rs786204504
|
|
|
NM_000441.2(SLC26A4):c.164+2T>C
|
rs397516420
|
|
|
NM_000441.2(SLC26A4):c.1692dup (p.Cys565fs)
|
rs746427774
|
|
|
NM_000441.2(SLC26A4):c.1920G>C (p.Trp640Cys)
|
rs368119540
|
|
|
NM_000441.2(SLC26A4):c.1957G>C (p.Val653Leu)
|
rs1554361014
|
|
|
NM_000441.2(SLC26A4):c.1969A>T (p.Ser657Cys)
|
rs876658003
|
|
|
NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln)
|
rs111033318
|
|
|
NM_000441.2(SLC26A4):c.2034+1G>A
|
rs759683649
|
|
|
NM_000441.2(SLC26A4):c.2089+3A>G
|
rs753682653
|
|
|
NM_000441.2(SLC26A4):c.2090-59AAAC[3]
|
rs112211967
|
|
|
NM_000441.2(SLC26A4):c.2090A>C (p.Asp697Ala)
|
rs111033443
|
|
|
NM_000441.2(SLC26A4):c.2118C>A (p.Cys706Ter)
|
rs142656144
|
|
|
NM_000441.2(SLC26A4):c.2127del (p.Phe709fs)
|
rs786204523
|
|
|
NM_000441.2(SLC26A4):c.2131G>A (p.Asp711Asn)
|
rs145805875
|
|
|
NM_000441.2(SLC26A4):c.2163G>C (p.Thr721=)
|
rs375151702
|
|
|
NM_000441.2(SLC26A4):c.2219G>T (p.Gly740Val)
|
rs111033310
|
|
|
NM_000441.2(SLC26A4):c.2272_2273insCTT (p.Glu757_Leu758insSer)
|
rs767671344
|
|
|
NM_000441.2(SLC26A4):c.2317G>A (p.Glu773Lys)
|
rs764791809
|
|
|
NM_000441.2(SLC26A4):c.365dup (p.Ile124fs)
|
rs786204730
|
|
|
NM_000441.2(SLC26A4):c.416-1G>A
|
rs1057516988
|
|
|
NM_000441.2(SLC26A4):c.416G>T (p.Gly139Val)
|
rs756272252
|
|
|
NM_000441.2(SLC26A4):c.475G>A (p.Glu159Lys)
|
rs1562823659
|
|
|
NM_000441.2(SLC26A4):c.486C>T (p.Leu162=)
|
rs370020280
|
|
|
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp)
|
rs111033256
|
|
|
NM_000441.2(SLC26A4):c.737del (p.Asn246fs)
|
rs918684449
|
|
|
NM_000441.2(SLC26A4):c.754T>C (p.Ser252Pro)
|
rs1315422549
|
|
|
NM_000441.2(SLC26A4):c.977G>C (p.Gly326Ala)
|
rs1791312931
|
|
|
NM_000466.3(PEX1):c.1056G>A (p.Val352=)
|
rs1348024001
|
|
|
NM_000466.3(PEX1):c.1077G>A (p.Lys359=)
|
rs138905930
|
|
|
NM_000466.3(PEX1):c.1077G>T (p.Lys359Asn)
|
rs138905930
|
|
|
NM_000466.3(PEX1):c.1108dup (p.Ile370fs)
|
rs61750406
|
|
|
NM_000466.3(PEX1):c.1142C>A (p.Ala381Asp)
|
rs73404416
|
|
|
NM_000466.3(PEX1):c.1152A>G (p.Leu384=)
|
rs776933950
|
|
|
NM_000466.3(PEX1):c.1230G>A (p.Gly410=)
|
rs539382251
|
|
|
NM_000466.3(PEX1):c.129+8G>A
|
rs1793393956
|
|
|
NM_000466.3(PEX1):c.1338G>A (p.Lys446=)
|
rs543863652
|
|
|
NM_000466.3(PEX1):c.1351_1354dup (p.Asn452fs)
|
rs1792596054
|
|
|
NM_000466.3(PEX1):c.1380A>C (p.Glu460Asp)
|
rs565049190
|
|
|
NM_000466.3(PEX1):c.1434T>G (p.Leu478=)
|
rs757668497
|
|
|
NM_000466.3(PEX1):c.1582A>G (p.Ile528Val)
|
rs1792432441
|
|
|
NM_000466.3(PEX1):c.1638T>A (p.Phe546Leu)
|
rs1397315670
|
|
|
NM_000466.3(PEX1):c.1646C>G (p.Pro549Arg)
|
rs751131750
|
|
|
NM_000466.3(PEX1):c.1716_1717del (p.His572fs)
|
rs786204606
|
|
|
NM_000466.3(PEX1):c.1742G>A (p.Arg581Gln)
|
rs370483961
|
|
|
NM_000466.3(PEX1):c.1742G>C (p.Arg581Pro)
|
rs370483961
|
|
|
NM_000466.3(PEX1):c.1842del (p.Glu615fs)
|
rs267608176
|
|
|
NM_000466.3(PEX1):c.1867C>A (p.His623Asn)
|
rs1792183513
|
|
|
NM_000466.3(PEX1):c.1877G>C (p.Arg626Thr)
|
rs1310822252
|
|
|
NM_000466.3(PEX1):c.1886_1887del (p.Asp628_Cys629insTer)
|
rs1398892633
|
|
|
NM_000466.3(PEX1):c.1975G>T (p.Val659Phe)
|
rs193221288
|
|
|
NM_000466.3(PEX1):c.2071+3A>G
|
rs1189294296
|
|
|
NM_000466.3(PEX1):c.2086A>G (p.Ile696Val)
|
rs1792018651
|
|
|
NM_000466.3(PEX1):c.2097dup (p.Ile700fs)
|
rs61750415
|
|
|
NM_000466.3(PEX1):c.2145G>T (p.Gln715His)
|
rs1292385792
|
|
|
NM_000466.3(PEX1):c.2389T>A (p.Ser797Thr)
|
rs1024476499
|
|
|
NM_000466.3(PEX1):c.2391_2392del (p.Arg798fs)
|
rs61750414
|
|
|
NM_000466.3(PEX1):c.2479C>T (p.Arg827Ter)
|
rs1232449804
|
|
|
NM_000466.3(PEX1):c.2565T>G (p.Thr855=)
|
rs1472376635
|
|
|
NM_000466.3(PEX1):c.2584-10del
|
rs5885806
|
|
|
NM_000466.3(PEX1):c.2584-11_2584-10del
|
rs5885806
|
|
|
NM_000466.3(PEX1):c.2584-21dup
|
rs5885806
|
|
|
NM_000466.3(PEX1):c.2693G>A (p.Ser898Asn)
|
rs1791831263
|
|
|
NM_000466.3(PEX1):c.273+1G>A
|
rs1554376597
|
|
|
NM_000466.3(PEX1):c.2760del (p.Ala921fs)
|
rs1256376226
|
|
|
NM_000466.3(PEX1):c.2783+2T>C
|
rs1585224312
|
|
|
NM_000466.3(PEX1):c.2784-7T>C
|
rs777893142
|
|
|
NM_000466.3(PEX1):c.2875C>T (p.Arg959Ter)
|
rs1057517481
|
|
|
NM_000466.3(PEX1):c.2916del (p.Gly973fs)
|
rs61750426
|
|
|
NM_000466.3(PEX1):c.2941G>A (p.Ala981Thr)
|
rs566068815
|
|
|
NM_000466.3(PEX1):c.3108A>G (p.Ala1036=)
|
rs1030151030
|
|
|
NM_000466.3(PEX1):c.3181G>A (p.Gly1061Arg)
|
rs1230486358
|
|
|
NM_000466.3(PEX1):c.3329_3332del (p.Val1109_Ser1110insTer)
|
rs1585214453
|
|
|
NM_000466.3(PEX1):c.3419_3424del (p.Asn1140_Gly1141del)
|
rs758076338
|
|
|
NM_000466.3(PEX1):c.3463A>C (p.Ser1155Arg)
|
rs1791190751
|
|
|
NM_000466.3(PEX1):c.3602G>A (p.Ser1201Asn)
|
rs1791175493
|
|
|
NM_000466.3(PEX1):c.3617G>T (p.Arg1206Ile)
|
rs574785174
|
|
|
NM_000466.3(PEX1):c.3637-3_3637-1del
|
rs2116039871
|
|
|
NM_000466.3(PEX1):c.3693_3696del (p.Gln1231fs)
|
rs769836601
|
|
|
NM_000466.3(PEX1):c.3722C>T (p.Thr1241Ile)
|
rs1791136903
|
|
|
NM_000466.3(PEX1):c.468A>G (p.Gln156=)
|
rs149729088
|
|
|
NM_000466.3(PEX1):c.472+5G>A
|
rs1792887658
|
|
|
NM_000466.3(PEX1):c.569C>A (p.Ser190Ter)
|
rs1554375599
|
|
|
NM_000466.3(PEX1):c.642A>C (p.Gln214His)
|
rs760441307
|
|
|
NM_000466.3(PEX1):c.68A>G (p.Asn23Ser)
|
rs1793399605
|
|
|
NM_000466.3(PEX1):c.711T>A (p.Val237=)
|
rs758443247
|
|
|
NM_000466.3(PEX1):c.788_789del (p.Thr263fs)
|
rs61750404
|
|
|
NM_000466.3(PEX1):c.852C>A (p.Asp284Glu)
|
rs1792859390
|
|
|
NM_000466.3(PEX1):c.898G>T (p.Ala300Ser)
|
rs751506204
|
|
|
NM_000492.3(CFTR):c.2909_2924dup
|
|
|
|
NM_000492.3(CFTR):c.3468+2dup
|
rs1554392800
|
|
|
NM_000492.4(CFTR):c.-439G>A
|
rs1797962499
|
|
|
NM_000492.4(CFTR):c.-939A>G
|
rs1584763860
|
|
|
NM_000492.4(CFTR):c.-9_14del (p.Met1fs)
|
rs397508136
|
|
|
NM_000492.4(CFTR):c.1001G>T (p.Arg334Leu)
|
rs397508137
|
|
|
NM_000492.4(CFTR):c.1019T>A (p.Ile340Asn)
|
rs1554381352
|
|
|
NM_000492.4(CFTR):c.1021T>C (p.Ser341Pro)
|
rs397508144
|
|
|
NM_000492.4(CFTR):c.1037T>C (p.Leu346Pro)
|
rs397508146
|
|
|
NM_000492.4(CFTR):c.1117-4A>G
|
rs1799060630
|
|
|
NM_000492.4(CFTR):c.1154A>G (p.Tyr385Cys)
|
rs1799062053
|
|
|
NM_000492.4(CFTR):c.117A>T (p.Gln39His)
|
rs764522674
|
|
|
NM_000492.4(CFTR):c.1210-2_1210-1del
|
rs1562894926
|
|
|
NM_000492.4(CFTR):c.1211del
|
rs1235397597
|
|
|
NM_000492.4(CFTR):c.1254T>C (p.Asn418=)
|
rs62469440
|
|
|
NM_000492.4(CFTR):c.1269T>A (p.Asn423Lys)
|
rs376039579
|
|
|
NM_000492.4(CFTR):c.1278C>T (p.Asp426=)
|
rs2896225
|
|
|
NM_000492.4(CFTR):c.1301_1307del (p.Ser434fs)
|
rs397508186
|
|
|
NM_000492.4(CFTR):c.1311T>C (p.Gly437=)
|
rs1562895049
|
|
|
NM_000492.4(CFTR):c.1318G>C (p.Val440Leu)
|
rs1799213656
|
|
|
NM_000492.4(CFTR):c.1342A>G (p.Ile448Val)
|
rs1584793570
|
|
|
NM_000492.4(CFTR):c.1365_1366del (p.Val456fs)
|
rs797045161
|
|
|
NM_000492.4(CFTR):c.137C>A (p.Ala46Asp)
|
rs151020603
|
|
|
NM_000492.4(CFTR):c.1393-10T>C
|
rs1799416100
|
|
|
NM_000492.4(CFTR):c.1472G>T (p.Cys491Phe)
|
rs778205742
|
|
|
NM_000492.4(CFTR):c.1495C>G (p.Pro499Ala)
|
rs397508219
|
|
|
NM_000492.4(CFTR):c.1495C>T (p.Pro499Ser)
|
rs397508219
|
|
|
NM_000492.4(CFTR):c.1558G>A (p.Val520Ile)
|
rs77646904
|
|
|
NM_000492.4(CFTR):c.1571G>A (p.Cys524Tyr)
|
rs1554384440
|
|
|
NM_000492.4(CFTR):c.1647T>A (p.Ser549Arg)
|
rs121909005
|
|
|
NM_000492.4(CFTR):c.1680A>C (p.Arg560Ser)
|
rs397508267
|
|
|
NM_000492.4(CFTR):c.1687T>G (p.Tyr563Asp)
|
rs121909006
|
|
|
NM_000492.4(CFTR):c.1766+3A>T
|
rs397508298
|
|
|
NM_000492.4(CFTR):c.1783A>G (p.Met595Val)
|
rs750140050
|
|
|
NM_000492.4(CFTR):c.1882G>A (p.Gly628Arg)
|
rs397508316
|
|
|
NM_000492.4(CFTR):c.2001C>T (p.His667=)
|
rs772786141
|
|
|
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln)
|
rs1800076
|
|
|
NM_000492.4(CFTR):c.2474A>G (p.Asn825Ser)
|
rs1398481391
|
|
|
NM_000492.4(CFTR):c.2490+7A>G
|
rs751864459
|
|
|
NM_000492.4(CFTR):c.2589_2599del (p.Ile864fs)
|
rs397508400
|
|
|
NM_000492.4(CFTR):c.276A>T (p.Glu92Asp)
|
rs397508432
|
|
|
NM_000492.4(CFTR):c.2812G>C (p.Val938Leu)
|
rs749784731
|
|
|
NM_000492.4(CFTR):c.2932A>T (p.Lys978Ter)
|
rs193922514
|
|
|
NM_000492.4(CFTR):c.29G>A (p.Ser10Asn)
|
rs762241850
|
|
|
NM_000492.4(CFTR):c.3001G>A (p.Val1001Met)
|
rs193922731
|
|
|
NM_000492.4(CFTR):c.3292T>C (p.Trp1098Arg)
|
rs397508531
|
|
|
NM_000492.4(CFTR):c.3303G>A (p.Met1101Ile)
|
rs777445862
|
|
|
NM_000492.4(CFTR):c.3476C>T (p.Ser1159Phe)
|
rs397508573
|
|
|
NM_000492.4(CFTR):c.3590A>T (p.His1197Leu)
|
rs765133036
|
|
|
NM_000492.4(CFTR):c.3628A>C (p.Met1210Leu)
|
rs151264397
|
|
|
NM_000492.4(CFTR):c.3641A>T (p.Asp1214Val)
|
rs1792675407
|
|
|
NM_000492.4(CFTR):c.3711C>A (p.Gly1237=)
|
rs1316425599
|
|
|
NM_000492.4(CFTR):c.3717+4A>G
|
rs387906362
|
|
|
NM_000492.4(CFTR):c.3718-2473_3718-2472insCAGAGT
|
rs397515289
|
|
|
NM_000492.4(CFTR):c.3718-3T>G
|
rs397508596
|
|
|
NM_000492.4(CFTR):c.3719T>G (p.Val1240Gly)
|
rs397508598
|
|
|
NM_000492.4(CFTR):c.3763T>C (p.Ser1255Pro)
|
rs121909041
|
|
|
NM_000492.4(CFTR):c.3794G>A (p.Gly1265Glu)
|
rs1554395370
|
|
|
NM_000492.4(CFTR):c.3806T>A (p.Ile1269Asn)
|
rs1562923253
|
|
|
NM_000492.4(CFTR):c.3854C>T (p.Ala1285Val)
|
rs397508617
|
|
|
NM_000492.4(CFTR):c.3859G>A (p.Gly1287Arg)
|
rs1792936385
|
|
|
NM_000492.4(CFTR):c.3893G>C (p.Gly1298Ala)
|
rs193922522
|
|
|
NM_000492.4(CFTR):c.38C>T (p.Ser13Phe)
|
rs397508635
|
|
|
NM_000492.4(CFTR):c.3934G>T (p.Asp1312Tyr)
|
rs1793109904
|
|
|
NM_000492.4(CFTR):c.3988C>T (p.Gln1330Ter)
|
rs375661578
|
|
|
NM_000492.4(CFTR):c.3991T>A (p.Phe1331Ile)
|
rs1369611499
|
|
|
NM_000492.4(CFTR):c.4004T>C (p.Leu1335Pro)
|
rs397508658
|
|
|
NM_000492.4(CFTR):c.401G>A (p.Arg134Lys)
|
rs1584785049
|
|
|
NM_000492.4(CFTR):c.4030T>G (p.Cys1344Gly)
|
rs1793341222
|
|
|
NM_000492.4(CFTR):c.4097T>C (p.Ile1366Thr)
|
rs200955612
|
|
|
NM_000492.4(CFTR):c.4111G>T (p.Glu1371Ter)
|
rs397508675
|
|
|
NM_000492.4(CFTR):c.4124A>C (p.His1375Pro)
|
rs397508678
|
|
|
NM_000492.4(CFTR):c.4136+3G>A
|
rs1584849002
|
|
|
NM_000492.4(CFTR):c.413_415dup (p.Leu138dup)
|
rs397508686
|
|
|
NM_000492.4(CFTR):c.416A>G (p.His139Arg)
|
rs76371115
|
|
|
NM_000492.4(CFTR):c.4242+2T>C
|
rs193922526
|
|
|
NM_000492.4(CFTR):c.4266G>T (p.Arg1422=)
|
rs545385510
|
|
|
NM_000492.4(CFTR):c.4272C>G (p.Tyr1424Ter)
|
rs1800135
|
|
|
NM_000492.4(CFTR):c.4368C>G (p.Ser1456Arg)
|
rs1793394598
|
|
|
NM_000492.4(CFTR):c.4423G>T (p.Val1475Leu)
|
rs369464175
|
|
|
NM_000492.4(CFTR):c.454A>G (p.Met152Val)
|
rs397508721
|
|
|
NM_000492.4(CFTR):c.470_483del (p.Met156_Phe157insTer)
|
rs1554379887
|
|
|
NM_000492.4(CFTR):c.4C>T (p.Gln2Ter)
|
rs397508740
|
|
|
NM_000492.4(CFTR):c.587C>T (p.Ala196Val)
|
rs1204822296
|
|
|
NM_000492.4(CFTR):c.610G>T (p.Ala204Ser)
|
rs748026786
|
|
|
NM_000492.4(CFTR):c.619C>T (p.Gln207Ter)
|
rs397508771
|
|
|
NM_000492.4(CFTR):c.67A>G (p.Ile23Val)
|
rs1798377413
|
|
|
NM_000492.4(CFTR):c.711G>C (p.Gln237His)
|
rs397508785
|
|
|
NM_000492.4(CFTR):c.717del (p.Gly239_Leu240insTer)
|
rs1554380497
|
|
|
NM_000492.4(CFTR):c.742A>G (p.Arg248Gly)
|
rs1554380515
|
|
|
NM_000492.4(CFTR):c.914T>G (p.Phe305Cys)
|
rs1562892143
|
|
|
NM_000492.4(CFTR):c.927C>T (p.Ala309=)
|
rs1800084
|
|
|
NM_000492.4(CFTR):c.933C>G (p.Phe311Leu)
|
rs121909016
|
|
|
NM_000525.4(KCNJ11):c.1005C>A (p.Asn335Lys)
|
rs1564864998
|
|
|
NM_000525.4(KCNJ11):c.10C>T (p.Arg4Cys)
|
rs543286136
|
|
|
NM_000525.4(KCNJ11):c.1126G>T (p.Ala376Ser)
|
rs1953567712
|
|
|
NM_000525.4(KCNJ11):c.152_158del (p.Glu51fs)
|
rs1953591118
|
|
|
NM_000525.4(KCNJ11):c.309C>A (p.Ser103Arg)
|
rs376773562
|
|
|
NM_000525.4(KCNJ11):c.309C>T (p.Ser103=)
|
rs376773562
|
|
|
NM_000525.4(KCNJ11):c.405dup (p.Arg136fs)
|
rs557160758
|
|
|
NM_000525.4(KCNJ11):c.49C>T (p.Leu17=)
|
rs1287370462
|
|
|
NM_000525.4(KCNJ11):c.558T>C (p.His186=)
|
rs1953583830
|
|
|
NM_000525.4(KCNJ11):c.774C>A (p.Tyr258Ter)
|
rs1564865232
|
|
|
NM_000525.4(KCNJ11):c.905C>T (p.Thr302Ile)
|
rs761575495
|
|
|
NM_000543.4(SMPD1):c.126_143del (p.Ala44_Leu49del)
|
rs3838786
|
|
|
NM_000543.5(SMPD1):c.106_107insCGCTGGCGCTGG (p.Leu35_Val36insAlaLeuAlaLeu)
|
rs1554933800
|
|
|
NM_000543.5(SMPD1):c.107_112del (p.Val36_Leu37del)
|
rs775860642
|
|
|
NM_000543.5(SMPD1):c.107_118del (p.Val36_Leu39del)
|
rs550365194
|
|
|
NM_000543.5(SMPD1):c.107_124del (p.Val36_Leu41del)
|
rs794726889
|
|
|
NM_000543.5(SMPD1):c.108GCTGGC[5] (p.38AL[5])
|
rs3838786
|
|
|
NM_000543.5(SMPD1):c.108GCTGGC[8] (p.38AL[8])
|
rs3838786
|
|
|
NM_000543.5(SMPD1):c.108_109insGCG (p.Val36_Leu37insAla)
|
rs775568984
|
|
|
NM_000543.5(SMPD1):c.108_109insGCGCTGGCG (p.Val36_Leu37insAlaLeuAla)
|
rs775568984
|
|
|
NM_000543.5(SMPD1):c.108_109insGCGCTGGCGCTGGCGCTGGCG (p.Val36_Leu37insAlaLeuAlaLeuAlaLeuAla)
|
rs775568984
|
|
|
NM_000543.5(SMPD1):c.1177T>G (p.Trp393Gly)
|
rs120074125
|
|
|
NM_000543.5(SMPD1):c.1264-1G>T
|
rs1057516454
|
|
|
NM_000543.5(SMPD1):c.1327C>T (p.Arg443Ter)
|
rs120074127
|
|
|
NM_000543.5(SMPD1):c.1380del (p.His461fs)
|
rs1848061158
|
|
|
NM_000543.5(SMPD1):c.1420_1421del (p.Leu474fs)
|
rs398123476
|
|
|
NM_000543.5(SMPD1):c.1451C>A (p.Ala484Glu)
|
rs267607075
|
|
|
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter)
|
rs398123478
|
|
|
NM_000543.5(SMPD1):c.1630del (p.Thr544fs)
|
rs770962157
|
|
|
NM_000543.5(SMPD1):c.1783_1784del (p.Ala597fs)
|
rs1437508852
|
|
|
NM_000543.5(SMPD1):c.318+2T>C
|
rs1225462507
|
|
|
NM_000543.5(SMPD1):c.348C>T (p.Ser116=)
|
rs767122852
|
|
|
NM_000543.5(SMPD1):c.509G>A (p.Trp170Ter)
|
rs1554934193
|
|
|
NM_000543.5(SMPD1):c.538_539del (p.Leu180fs)
|
rs786204694
|
|
|
NM_000543.5(SMPD1):c.592G>C (p.Ala198Pro)
|
rs797044798
|
|
|
NM_000543.5(SMPD1):c.785_807del (p.Leu262fs)
|
rs794727252
|
|
|
NM_000543.5(SMPD1):c.788T>A (p.Leu263Ter)
|
rs120074120
|
|
|
NM_000543.5(SMPD1):c.839A>C (p.Asp280Ala)
|
rs1847935299
|
|
|
NM_000543.5(SMPD1):c.84del (p.Gly29fs)
|
rs750157176
|
|
|
NM_000543.5(SMPD1):c.872G>A (p.Arg291His)
|
rs1803161
|
|
|
NM_000543.5(SMPD1):c.96G>A (p.Trp32Ter)
|
rs786204506
|
|
|
NM_000543.5(SMPD1):c.996del (p.Phe333fs)
|
rs387906289
|
|
|
NM_000784.4(CYP27A1):c.1017+5G>C
|
rs370304209
|
|
|
NM_000784.4(CYP27A1):c.1180_1181del (p.Leu394fs)
|
rs1178393503
|
|
|
NM_000784.4(CYP27A1):c.11_20dup (p.Arg8fs)
|
rs886041342
|
|
|
NM_000784.4(CYP27A1):c.130C>T (p.Pro44Ser)
|
rs923201483
|
|
|
NM_000784.4(CYP27A1):c.1435C>T (p.Arg479Cys)
|
rs72551322
|
|
|
NM_000784.4(CYP27A1):c.1436G>A (p.Arg479His)
|
rs199638075
|
|
|
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser)
|
rs72551323
|
|
|
NM_000784.4(CYP27A1):c.1477-2A>C
|
rs111570247
|
|
|
NM_000784.4(CYP27A1):c.1500C>T (p.Val500=)
|
rs1268917075
|
|
|
NM_000784.4(CYP27A1):c.1514C>T (p.Thr505Met)
|
rs76822427
|
|
|
NM_000784.4(CYP27A1):c.1538G>A (p.Arg513His)
|
rs144701596
|
|
|
NM_000784.4(CYP27A1):c.172GAG[1] (p.Glu59del)
|
rs766316288
|
|
|
NM_000784.4(CYP27A1):c.393G>A (p.Glu131=)
|
rs911534514
|
|
|
NM_000784.4(CYP27A1):c.404A>G (p.Glu135Gly)
|
rs1943692342
|
|
|
NM_000784.4(CYP27A1):c.446+1G>T
|
rs587778797
|
|
|
NM_000784.4(CYP27A1):c.491G>C (p.Arg164Pro)
|
rs148417330
|
|
|
NM_000784.4(CYP27A1):c.515C>A (p.Ala172Glu)
|
rs200753815
|
|
|
NM_000784.4(CYP27A1):c.526del (p.Asp176fs)
|
rs765512351
|
|
|
NM_000784.4(CYP27A1):c.701C>T (p.Pro234Leu)
|
rs1943733556
|
|
|
NM_000784.4(CYP27A1):c.735G>T (p.Gly245=)
|
rs770631614
|
|
|
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_001017420.3(ESCO2):c.1013+1G>A
|
rs1225195349
|
|
|
NM_001017420.3(ESCO2):c.1128C>A (p.Ile376=)
|
rs140062105
|
|
|
NM_001017420.3(ESCO2):c.1470G>A (p.Gly490=)
|
rs554005632
|
|
|
NM_001017420.3(ESCO2):c.166_170del (p.Val56fs)
|
rs750842366
|
|
|
NM_001017420.3(ESCO2):c.1747T>C (p.Leu583=)
|
rs1585413228
|
|
|
NM_001017420.3(ESCO2):c.307_311del (p.Lys103fs)
|
rs80359846
|
|
|
NM_001017420.3(ESCO2):c.402G>A (p.Lys134=)
|
rs1804800125
|
|
|
NM_001017420.3(ESCO2):c.405G>A (p.Lys135=)
|
rs767762209
|
|
|
NM_001017420.3(ESCO2):c.760del (p.Thr254fs)
|
rs80359852
|
|
|
NM_001017420.3(ESCO2):c.765T>C (p.Phe255=)
|
rs780741900
|
|
|
NM_001017420.3(ESCO2):c.768G>A (p.Ala256=)
|
rs372611248
|
|
|
NM_001017420.3(ESCO2):c.879_880del (p.Arg293fs)
|
rs80359857
|
|
|
NM_001017420.3(ESCO2):c.955+10A>G
|
rs1421884058
|
|
|
NM_001017420.3(ESCO2):c.955+7_955+8del
|
rs555057427
|
|
|
NM_001039958.2(MESP2):c.1122C>A (p.Gly374=)
|
rs765218369
|
|
|
NM_001039958.2(MESP2):c.189C>G (p.Ala63=)
|
rs534821207
|
|
|
NM_001039958.2(MESP2):c.197C>G (p.Ala66Gly)
|
rs71647809
|
|
|
NM_001039958.2(MESP2):c.237G>C (p.Ala79=)
|
rs775834437
|
|
|
NM_001039958.2(MESP2):c.237G>T (p.Ala79=)
|
rs775834437
|
|
|
NM_001039958.2(MESP2):c.245A>G (p.Gln82Arg)
|
rs1968366047
|
|
|
NM_001039958.2(MESP2):c.248G>C (p.Arg83Pro)
|
rs986299993
|
|
|
NM_001039958.2(MESP2):c.255C>G (p.Ser85Arg)
|
rs1377497655
|
|
|
NM_001039958.2(MESP2):c.258_261del (p.Glu88fs)
|
rs1452984345
|
|
|
NM_001039958.2(MESP2):c.278G>C (p.Arg93Pro)
|
rs1968366878
|
|
|
NM_001039958.2(MESP2):c.307G>T (p.Glu103Ter)
|
rs71647808
|
|
|
NM_001039958.2(MESP2):c.320T>C (p.Phe107Ser)
|
rs1968368157
|
|
|
NM_001039958.2(MESP2):c.378C>G (p.Arg126=)
|
rs748816022
|
|
|
NM_001039958.2(MESP2):c.461G>C (p.Gly154Ala)
|
rs1968372166
|
|
|
NM_001039958.2(MESP2):c.498C>A (p.Pro166=)
|
rs200336355
|
|
|
NM_001039958.2(MESP2):c.498C>G (p.Pro166=)
|
rs200336355
|
|
|
NM_001039958.2(MESP2):c.517G>A (p.Ala173Thr)
|
rs374604155
|
|
|
NM_001039958.2(MESP2):c.534GGGGCAGGGGCAAGGGCAGGGGCA[1] (p.180QG[9])
|
rs200021459
|
|
|
NM_001039958.2(MESP2):c.549_584del (p.180_181QG[7])
|
rs749710849
|
|
|
NM_001039958.2(MESP2):c.552GGGGCA[1] (p.180QG[11])
|
rs56192595
|
|
|
NM_001039958.2(MESP2):c.637G>A (p.Ala213Thr)
|
rs781296717
|
|
|
NM_001039958.2(MESP2):c.693C>T (p.Ala231=)
|
rs901621478
|
|
|
NM_001039958.2(MESP2):c.966T>G (p.Ala322=)
|
rs768285654
|
|
|
NM_001122769.3(LCA5):c.1101C>T (p.Asp367=)
|
rs1769766843
|
|
|
NM_001122769.3(LCA5):c.1151del (p.Pro384fs)
|
rs386834252
|
|
|
NM_001122769.3(LCA5):c.1267G>C (p.Glu423Gln)
|
rs777920075
|
|
|
NM_001122769.3(LCA5):c.165T>G (p.Thr55=)
|
rs534076319
|
|
|
NM_001122769.3(LCA5):c.1805C>G (p.Ala602Gly)
|
rs1769692203
|
|
|
NM_001122769.3(LCA5):c.469A>G (p.Ile157Val)
|
rs901281230
|
|
|
NM_001122769.3(LCA5):c.484T>C (p.Phe162Leu)
|
rs533963525
|
|
|
NM_001127671.2(LIFR):c.1245G>A (p.Pro415=)
|
rs139809889
|
|
|
NM_001127671.2(LIFR):c.1365A>G (p.Leu455=)
|
rs1204654428
|
|
|
NM_001127671.2(LIFR):c.1417T>C (p.Ser473Pro)
|
rs543824186
|
|
|
NM_001127671.2(LIFR):c.143-37GT[12]
|
rs10637374
|
|
|
NM_001127671.2(LIFR):c.143-37GT[13]
|
rs10637374
|
|
|
NM_001127671.2(LIFR):c.143-37GT[15]
|
rs10637374
|
|
|
NM_001127671.2(LIFR):c.143-37GT[16]
|
rs10637374
|
|
|
NM_001127671.2(LIFR):c.143-5_143-3del
|
rs778581246
|
|
|
NM_001127671.2(LIFR):c.1705C>G (p.Leu569Val)
|
rs544925449
|
|
|
NM_001127671.2(LIFR):c.183A>C (p.Gln61His)
|
rs1243202901
|
|
|
NM_001127671.2(LIFR):c.2168-1G>A
|
rs2112393633
|
|
|
NM_001127671.2(LIFR):c.231T>C (p.Thr77=)
|
rs2112564224
|
|
|
NM_001127671.2(LIFR):c.2434C>T (p.Arg812Ter)
|
rs756675225
|
|
|
NM_001127671.2(LIFR):c.3288C>A (p.Asn1096Lys)
|
rs3729751
|
|
|
NM_001127671.2(LIFR):c.3288C>T (p.Asn1096=)
|
rs3729751
|
|
|
NM_001127671.2(LIFR):c.912_915del (p.Ile304fs)
|
rs1561159768
|
|
|
NM_001130987.2(DYSF):c.1002+4A>G
|
rs905322985
|
|
|
NM_001130987.2(DYSF):c.110_111del (p.Lys37fs)
|
rs398123764
|
|
|
NM_001130987.2(DYSF):c.1197C>A (p.Asn399Lys)
|
rs781380886
|
|
|
NM_001130987.2(DYSF):c.1256G>A (p.Arg419Gln)
|
rs776036392
|
|
|
NM_001130987.2(DYSF):c.1271C>G (p.Pro424Arg)
|
rs767800266
|
|
|
NM_001130987.2(DYSF):c.1464C>A (p.Cys488Ter)
|
rs202044973
|
|
|
NM_001130987.2(DYSF):c.1471dup (p.Met491fs)
|
rs1236367931
|
|
|
NM_001130987.2(DYSF):c.1488dup (p.Asp497fs)
|
rs398123767
|
|
|
NM_001130987.2(DYSF):c.1518C>A (p.Ile506=)
|
rs34387018
|
|
|
NM_001130987.2(DYSF):c.1518C>T (p.Ile506=)
|
rs34387018
|
|
|
NM_001130987.2(DYSF):c.1577-25T>C
|
rs769185336
|
|
|
NM_001130987.2(DYSF):c.1676A>G (p.Glu559Gly)
|
rs541663451
|
|
|
NM_001130987.2(DYSF):c.1712G>A (p.Arg571His)
|
rs1368149283
|
|
|
NM_001130987.2(DYSF):c.176C>T (p.Pro59Leu)
|
rs566595009
|
|
|
NM_001130987.2(DYSF):c.1791C>G (p.Asp597Glu)
|
rs773168782
|
|
|
NM_001130987.2(DYSF):c.1797C>T (p.Leu599=)
|
rs2090960824
|
|
|
NM_001130987.2(DYSF):c.1799G>A (p.Arg600Gln)
|
rs546679270
|
|
|
NM_001130987.2(DYSF):c.1799G>T (p.Arg600Leu)
|
rs546679270
|
|
|
NM_001130987.2(DYSF):c.1812C>G (p.Tyr604Ter)
|
rs1553543506
|
|
|
NM_001130987.2(DYSF):c.1915G>A (p.Gly639Arg)
|
rs886043900
|
|
|
NM_001130987.2(DYSF):c.1944G>A (p.Pro648=)
|
rs115849497
|
|
|
NM_001130987.2(DYSF):c.1944G>T (p.Pro648=)
|
rs115849497
|
|
|
NM_001130987.2(DYSF):c.2263G>T (p.Asp755Tyr)
|
rs376652699
|
|
|
NM_001130987.2(DYSF):c.2482C>A (p.Pro828Thr)
|
rs146819460
|
|
|
NM_001130987.2(DYSF):c.2548C>A (p.Gln850Lys)
|
rs199543257
|
|
|
NM_001130987.2(DYSF):c.2631G>T (p.Gly877=)
|
rs1465061221
|
|
|
NM_001130987.2(DYSF):c.268C>T (p.Arg90Ter)
|
rs794727636
|
|
|
NM_001130987.2(DYSF):c.2745G>A (p.Thr915=)
|
rs775337850
|
|
|
NM_001130987.2(DYSF):c.2773G>A (p.Val925Ile)
|
rs2092226553
|
|
|
NM_001130987.2(DYSF):c.280G>A (p.Ala94Thr)
|
rs759171890
|
|
|
NM_001130987.2(DYSF):c.280G>C (p.Ala94Pro)
|
rs759171890
|
|
|
NM_001130987.2(DYSF):c.280_300dup (p.Ala94_Ala100dup)
|
rs1172863089
|
|
|
NM_001130987.2(DYSF):c.2848G>C (p.Val950Leu)
|
rs774307376
|
|
|
NM_001130987.2(DYSF):c.2957T>A (p.Met986Lys)
|
rs775907195
|
|
|
NM_001130987.2(DYSF):c.3085+2T>C
|
rs886042951
|
|
|
NM_001130987.2(DYSF):c.3116A>T (p.Glu1039Val)
|
rs1237272381
|
|
|
NM_001130987.2(DYSF):c.3131A>C (p.His1044Pro)
|
rs2092365476
|
|
|
NM_001130987.2(DYSF):c.3153G>A (p.Met1051Ile)
|
rs2092366716
|
|
|
NM_001130987.2(DYSF):c.3161C>G (p.Thr1054Arg)
|
rs770883682
|
|
|
NM_001130987.2(DYSF):c.3166C>T (p.Arg1056Ter)
|
rs369607332
|
|
|
NM_001130987.2(DYSF):c.3239CGGAGG[3] (p.1080AE[3])
|
rs398123779
|
|
|
NM_001130987.2(DYSF):c.3446C>A (p.Ser1149Tyr)
|
rs959125009
|
|
|
NM_001130987.2(DYSF):c.3459C>T (p.Phe1153=)
|
rs778088008
|
|
|
NM_001130987.2(DYSF):c.3493G>A (p.Asp1165Asn)
|
rs761528558
|
|
|
NM_001130987.2(DYSF):c.3501G>A (p.Gly1167=)
|
rs138317526
|
|
|
NM_001130987.2(DYSF):c.3552G>A (p.Ala1184=)
|
rs201319864
|
|
|
NM_001130987.2(DYSF):c.3563A>T (p.Asp1188Val)
|
rs1442583354
|
|
|
NM_001130987.2(DYSF):c.3570_3571del (p.Phe1190_Ser1191insTer)
|
rs766341386
|
|
|
NM_001130987.2(DYSF):c.3571dup (p.Ser1191fs)
|
rs766341386
|
|
|
NM_001130987.2(DYSF):c.3588C>T (p.Ile1196=)
|
rs79899601
|
|
|
NM_001130987.2(DYSF):c.3678C>G (p.Ile1226Met)
|
rs148858485
|
|
|
NM_001130987.2(DYSF):c.3678C>T (p.Ile1226=)
|
rs148858485
|
|
|
NM_001130987.2(DYSF):c.3719C>T (p.Pro1240Leu)
|
rs1385670493
|
|
|
NM_001130987.2(DYSF):c.3792A>G (p.Gln1264=)
|
rs762041312
|
|
|
NM_001130987.2(DYSF):c.3916C>G (p.Pro1306Ala)
|
rs370620594
|
|
|
NM_001130987.2(DYSF):c.3928-10T>C
|
rs1558589946
|
|
|
NM_001130987.2(DYSF):c.3957G>A (p.Glu1319=)
|
rs781449138
|
|
|
NM_001130987.2(DYSF):c.4045C>T (p.Arg1349Cys)
|
rs760074198
|
|
|
NM_001130987.2(DYSF):c.4046G>A (p.Arg1349His)
|
rs61742872
|
|
|
NM_001130987.2(DYSF):c.4046G>T (p.Arg1349Leu)
|
rs61742872
|
|
|
NM_001130987.2(DYSF):c.408C>T (p.Pro136=)
|
rs1182440042
|
|
|
NM_001130987.2(DYSF):c.4244A>G (p.Tyr1415Cys)
|
rs775254512
|
|
|
NM_001130987.2(DYSF):c.4244A>T (p.Tyr1415Phe)
|
rs775254512
|
|
|
NM_001130987.2(DYSF):c.4248C>A (p.Cys1416Ter)
|
rs971134497
|
|
|
NM_001130987.2(DYSF):c.4253C>A (p.Pro1418His)
|
rs138268837
|
|
|
NM_001130987.2(DYSF):c.4254dup (p.Ile1419fs)
|
rs398123786
|
|
|
NM_001130987.2(DYSF):c.4295G>A (p.Arg1432Gln)
|
rs761337469
|
|
|
NM_001130987.2(DYSF):c.431C>A (p.Pro144Gln)
|
rs139654844
|
|
|
NM_001130987.2(DYSF):c.4352A>C (p.Tyr1451Ser)
|
rs757346544
|
|
|
NM_001130987.2(DYSF):c.4367C>T (p.Pro1456Leu)
|
rs1471848144
|
|
|
NM_001130987.2(DYSF):c.4444G>T (p.Glu1482Ter)
|
rs1574354515
|
|
|
NM_001130987.2(DYSF):c.4452C>T (p.Leu1484=)
|
rs1476328093
|
|
|
NM_001130987.2(DYSF):c.4461C>T (p.Ile1487=)
|
rs751456837
|
|
|
NM_001130987.2(DYSF):c.4528G>A (p.Glu1510Lys)
|
rs562261472
|
|
|
NM_001130987.2(DYSF):c.4551G>A (p.Trp1517Ter)
|
rs766016391
|
|
|
NM_001130987.2(DYSF):c.4626+10C>T
|
rs1420815050
|
|
|
NM_001130987.2(DYSF):c.4636A>C (p.Thr1546Pro)
|
rs2094765878
|
|
|
NM_001130987.2(DYSF):c.4658C>A (p.Ala1553Asp)
|
rs2094766394
|
|
|
NM_001130987.2(DYSF):c.4715A>C (p.Gln1572Pro)
|
rs751126464
|
|
|
NM_001130987.2(DYSF):c.4755+5A>C
|
rs2094768502
|
|
|
NM_001130987.2(DYSF):c.4801A>G (p.Met1601Val)
|
rs768130248
|
|
|
NM_001130987.2(DYSF):c.4810A>G (p.Arg1604Gly)
|
rs1558750109
|
|
|
NM_001130987.2(DYSF):c.4819C>T (p.His1607Tyr)
|
rs1298041271
|
|
|
NM_001130987.2(DYSF):c.4911G>A (p.Lys1637=)
|
rs141704244
|
|
|
NM_001130987.2(DYSF):c.4911G>T (p.Lys1637Asn)
|
rs141704244
|
|
|
NM_001130987.2(DYSF):c.4982C>T (p.Thr1661Met)
|
rs144383140
|
|
|
NM_001130987.2(DYSF):c.4983G>A (p.Thr1661=)
|
rs142301132
|
|
|
NM_001130987.2(DYSF):c.4983G>T (p.Thr1661=)
|
rs142301132
|
|
|
NM_001130987.2(DYSF):c.4984C>T (p.Leu1662=)
|
rs963646326
|
|
|
NM_001130987.2(DYSF):c.5146C>T (p.Arg1716Cys)
|
rs771735871
|
|
|
NM_001130987.2(DYSF):c.5174+8G>A
|
rs1573054048
|
|
|
NM_001130987.2(DYSF):c.5227C>T (p.Leu1743Phe)
|
rs575920691
|
|
|
NM_001130987.2(DYSF):c.5317+1G>A
|
rs773386253
|
|
|
NM_001130987.2(DYSF):c.5336A>G (p.Asn1779Ser)
|
rs1573078295
|
|
|
NM_001130987.2(DYSF):c.5378T>C (p.Val1793Ala)
|
rs753644501
|
|
|
NM_001130987.2(DYSF):c.5504G>A (p.Arg1835Gln)
|
rs762675721
|
|
|
NM_001130987.2(DYSF):c.5546+7T>C
|
rs1573092033
|
|
|
NM_001130987.2(DYSF):c.5585T>C (p.Val1862Ala)
|
rs886043339
|
|
|
NM_001130987.2(DYSF):c.5704G>A (p.Gly1902Ser)
|
rs886044266
|
|
|
NM_001130987.2(DYSF):c.5726G>A (p.Arg1909Lys)
|
rs886043028
|
|
|
NM_001130987.2(DYSF):c.5785-1G>C
|
rs751473506
|
|
|
NM_001130987.2(DYSF):c.5785-7G>A
|
rs753861836
|
|
|
NM_001130987.2(DYSF):c.5815_5816del (p.Ser1939fs)
|
rs398123796
|
|
|
NM_001130987.2(DYSF):c.5906A>G (p.Asn1969Ser)
|
rs775578484
|
|
|
NM_001130987.2(DYSF):c.5953_5956del (p.Gln1985fs)
|
rs398123797
|
|
|
NM_001130987.2(DYSF):c.6025C>T (p.Pro2009Ser)
|
rs1057521141
|
|
|
NM_001130987.2(DYSF):c.605C>A (p.Ala202Glu)
|
rs34999029
|
|
|
NM_001130987.2(DYSF):c.6115C>T (p.Arg2039Trp)
|
rs149357145
|
|
|
NM_001130987.2(DYSF):c.6125G>A (p.Gly2042Asp)
|
rs1395588065
|
|
|
NM_001130987.2(DYSF):c.6259ATCCTCTTCATC[1] (p.2087ILFI[1])
|
rs749619435
|
|
|
NM_001130987.2(DYSF):c.6259ATCCTCTTCATC[3] (p.2087ILFI[3])
|
rs749619435
|
|
|
NM_001130987.2(DYSF):c.6323A>G (p.Asn2108Ser)
|
rs1442725303
|
|
|
NM_001130987.2(DYSF):c.640G>T (p.Ala214Ser)
|
rs759455142
|
|
|
NM_001130987.2(DYSF):c.653C>T (p.Pro218Leu)
|
rs752497222
|
|
|
NM_001130987.2(DYSF):c.677C>T (p.Pro226Leu)
|
rs201980470
|
|
|
NM_001130987.2(DYSF):c.706C>G (p.Arg236Gly)
|
rs373585652
|
|
|
NM_001130987.2(DYSF):c.706C>T (p.Arg236Ter)
|
rs373585652
|
|
|
NM_001130987.2(DYSF):c.852G>A (p.Thr284=)
|
rs1454893867
|
|
|
NM_001130987.2(DYSF):c.895_896del (p.Phe299fs)
|
rs1337417322
|
|
|
NM_001130987.2(DYSF):c.951+1del
|
rs786200898
|
|
|
NM_001130987.2(DYSF):c.953T>A (p.Val318Glu)
|
rs398123807
|
|
|
NM_001130987.2(DYSF):c.982G>A (p.Ala328Thr)
|
rs1314586455
|
|
|
NM_001130987.2(DYSF):c.98A>C (p.Lys33Thr)
|
rs539484245
|
|
|
NM_001134793.2(HYLS1):c.103G>C (p.Gly35Arg)
|
rs1944692233
|
|
|
NM_001134793.2(HYLS1):c.183A>G (p.Arg61=)
|
rs1944695435
|
|
|
NM_001134793.2(HYLS1):c.200A>G (p.Gln67Arg)
|
rs1944696406
|
|
|
NM_001134793.2(HYLS1):c.234T>A (p.Pro78=)
|
rs1944697741
|
|
|
NM_001134793.2(HYLS1):c.278TGA[1] (p.Met94del)
|
rs1944700447
|
|
|
NM_001134793.2(HYLS1):c.675A>G (p.Ser225=)
|
rs763523610
|
|
|
NM_001134793.2(HYLS1):c.846C>T (p.Asp282=)
|
rs1944726159
|
|
|
NM_001134793.2(HYLS1):c.893CTT[1] (p.Ser299del)
|
rs771348153
|
|
|
NM_001173990.3(TMEM216):c.*6A>G
|
rs541341560
|
|
|
NM_001173990.3(TMEM216):c.123A>C (p.Ile41=)
|
rs900061092
|
|
|
NM_001173990.3(TMEM216):c.137-7T>C
|
rs1554972545
|
|
|
NM_001173990.3(TMEM216):c.216T>C (p.Ile72=)
|
rs541666319
|
|
|
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu)
|
rs201108965
|
|
|
NM_001173990.3(TMEM216):c.229+10G>A
|
rs1590642512
|
|
|
NM_001173990.3(TMEM216):c.230-10T>C
|
rs1858829914
|
|
|
NM_001173990.3(TMEM216):c.295T>C (p.Ser99Pro)
|
rs1238443381
|
|
|
NM_001173990.3(TMEM216):c.35-13_36del
|
rs1057520085
|
|
|
NM_001173990.3(TMEM216):c.5T>C (p.Leu2Pro)
|
rs569734777
|
|
|
NM_001173990.3(TMEM216):c.7C>A (p.Pro3Thr)
|
rs1554972409
|
|
|
NM_001378454.1(ALMS1):c.1012C>T (p.Arg338Cys)
|
rs867586310
|
|
|
NM_001378454.1(ALMS1):c.10177G>T (p.Ala3393Ser)
|
rs145678202
|
|
|
NM_001378454.1(ALMS1):c.10213+1G>A
|
rs374681570
|
|
|
NM_001378454.1(ALMS1):c.10269GAA[1] (p.Lys3424del)
|
rs1184260245
|
|
|
NM_001378454.1(ALMS1):c.10558G>C (p.Asp3520His)
|
rs1403094265
|
|
|
NM_001378454.1(ALMS1):c.10671A>C (p.Lys3557Asn)
|
rs1674959132
|
|
|
NM_001378454.1(ALMS1):c.10671_10674del (p.Lys3557_Glu3558insTer)
|
rs1372103295
|
|
|
NM_001378454.1(ALMS1):c.10774A>C (p.Thr3592Pro)
|
rs200467041
|
|
|
NM_001378454.1(ALMS1):c.10787_10788del (p.Val3596fs)
|
rs1218465638
|
|
|
NM_001378454.1(ALMS1):c.11045_11056del (p.Leu3682_Ser3685del)
|
rs757734472
|
|
|
NM_001378454.1(ALMS1):c.11140A>G (p.Ile3714Val)
|
rs370536187
|
|
|
NM_001378454.1(ALMS1):c.11309A>G (p.Asp3770Gly)
|
rs770147613
|
|
|
NM_001378454.1(ALMS1):c.11310_11313del (p.Asp3770fs)
|
rs780252175
|
|
|
NM_001378454.1(ALMS1):c.11313_11316del (p.Glu3772fs)
|
rs747272625
|
|
|
NM_001378454.1(ALMS1):c.11323C>G (p.Leu3775Val)
|
rs771595125
|
|
|
NM_001378454.1(ALMS1):c.11323C>T (p.Leu3775=)
|
rs771595125
|
|
|
NM_001378454.1(ALMS1):c.11382del (p.Phe3794fs)
|
rs768759374
|
|
|
NM_001378454.1(ALMS1):c.11481C>G (p.Ser3827Arg)
|
rs549156484
|
|
|
NM_001378454.1(ALMS1):c.11615_11616del (p.Ser3872fs)
|
rs1476205467
|
|
|
NM_001378454.1(ALMS1):c.11667A>G (p.Ala3889=)
|
rs767848384
|
|
|
NM_001378454.1(ALMS1):c.1174C>T (p.Arg392Cys)
|
rs3813227
|
|
|
NM_001378454.1(ALMS1):c.11765del (p.Asn3922fs)
|
rs1247974278
|
|
|
NM_001378454.1(ALMS1):c.11798G>T (p.Arg3933Leu)
|
rs45576434
|
|
|
NM_001378454.1(ALMS1):c.11820C>G (p.Thr3940=)
|
rs565546868
|
|
|
NM_001378454.1(ALMS1):c.11820C>T (p.Thr3940=)
|
rs565546868
|
|
|
NM_001378454.1(ALMS1):c.11877_11878del (p.Ser3960fs)
|
rs758732551
|
|
|
NM_001378454.1(ALMS1):c.11881T>C (p.Trp3961Arg)
|
rs774496480
|
|
|
NM_001378454.1(ALMS1):c.1196_1202del (p.Thr399fs)
|
rs761292021
|
|
|
NM_001378454.1(ALMS1):c.12113A>G (p.Gln4038Arg)
|
rs1057524132
|
|
|
NM_001378454.1(ALMS1):c.12115-2A>T
|
rs1394193524
|
|
|
NM_001378454.1(ALMS1):c.12275G>T (p.Arg4092Leu)
|
rs748624161
|
|
|
NM_001378454.1(ALMS1):c.1237+10C>G
|
rs1291450244
|
|
|
NM_001378454.1(ALMS1):c.12399AGA[2] (p.Glu4136del)
|
rs764575993
|
|
|
NM_001378454.1(ALMS1):c.1247A>G (p.Gln416Arg)
|
rs777072028
|
|
|
NM_001378454.1(ALMS1):c.1343C>G (p.Thr448Arg)
|
rs774335945
|
|
|
NM_001378454.1(ALMS1):c.1432+2_1432+15del
|
rs1203193062
|
|
|
NM_001378454.1(ALMS1):c.144A>G (p.Glu48=)
|
rs1670515874
|
|
|
NM_001378454.1(ALMS1):c.1602T>G (p.Thr534=)
|
rs757654976
|
|
|
NM_001378454.1(ALMS1):c.160T>G (p.Leu54Val)
|
rs745737550
|
|
|
NM_001378454.1(ALMS1):c.1681G>A (p.Ala561Thr)
|
rs776104521
|
|
|
NM_001378454.1(ALMS1):c.1778A>G (p.His593Arg)
|
rs2103772175
|
|
|
NM_001378454.1(ALMS1):c.2038C>G (p.Arg680Gly)
|
rs115444326
|
|
|
NM_001378454.1(ALMS1):c.2038C>T (p.Arg680Ter)
|
rs115444326
|
|
|
NM_001378454.1(ALMS1):c.2119G>A (p.Gly707Arg)
|
rs1671857463
|
|
|
NM_001378454.1(ALMS1):c.2176dup (p.Tyr726fs)
|
rs771459937
|
|
|
NM_001378454.1(ALMS1):c.2199T>A (p.Ser733Arg)
|
rs1671860790
|
|
|
NM_001378454.1(ALMS1):c.2279A>G (p.Gln760Arg)
|
rs1572932391
|
|
|
NM_001378454.1(ALMS1):c.2339A>T (p.Asp780Val)
|
rs756716132
|
|
|
NM_001378454.1(ALMS1):c.2535C>T (p.Asp845=)
|
rs77517267
|
|
|
NM_001378454.1(ALMS1):c.2683_2685del (p.Asp895del)
|
rs763288832
|
|
|
NM_001378454.1(ALMS1):c.2726C>T (p.Ser909Leu)
|
rs746640196
|
|
|
NM_001378454.1(ALMS1):c.2809G>C (p.Val937Leu)
|
rs756153603
|
|
|
NM_001378454.1(ALMS1):c.3091A>C (p.Thr1031Pro)
|
rs72811915
|
|
|
NM_001378454.1(ALMS1):c.30C>T (p.Gly10=)
|
rs1402244580
|
|
|
NM_001378454.1(ALMS1):c.3255G>T (p.Gln1085His)
|
rs181507134
|
|
|
NM_001378454.1(ALMS1):c.346G>A (p.Val116Ile)
|
rs752342634
|
|
|
NM_001378454.1(ALMS1):c.354A>G (p.Gln118=)
|
rs531782624
|
|
|
NM_001378454.1(ALMS1):c.3572del (p.Phe1191fs)
|
rs1558648759
|
|
|
NM_001378454.1(ALMS1):c.3596G>A (p.Gly1199Asp)
|
rs1572934110
|
|
|
NM_001378454.1(ALMS1):c.36GGA[16] (p.Glu26_Glu28dup)
|
rs55889738
|
|
|
NM_001378454.1(ALMS1):c.36GGA[20] (p.Glu22_Glu28dup)
|
rs55889738
|
|
|
NM_001378454.1(ALMS1):c.3812C>T (p.Pro1271Leu)
|
rs372563916
|
|
|
NM_001378454.1(ALMS1):c.3980C>T (p.Pro1327Leu)
|
rs764135588
|
|
|
NM_001378454.1(ALMS1):c.4002C>G (p.Tyr1334Ter)
|
rs2103780942
|
|
|
NM_001378454.1(ALMS1):c.450+2T>C
|
rs1671019928
|
|
|
NM_001378454.1(ALMS1):c.4542C>T (p.Gly1514=)
|
rs763511170
|
|
|
NM_001378454.1(ALMS1):c.4626A>C (p.Gln1542His)
|
rs201603580
|
|
|
NM_001378454.1(ALMS1):c.4824_4826del (p.Asp1609del)
|
rs1057518311
|
|
|
NM_001378454.1(ALMS1):c.5111C>T (p.Thr1704Ile)
|
rs755683870
|
|
|
NM_001378454.1(ALMS1):c.5221G>C (p.Val1741Leu)
|
rs962844498
|
|
|
NM_001378454.1(ALMS1):c.5310G>A (p.Gln1770=)
|
rs778267451
|
|
|
NM_001378454.1(ALMS1):c.5422C>T (p.His1808Tyr)
|
rs1572936601
|
|
|
NM_001378454.1(ALMS1):c.5453G>T (p.Arg1818Leu)
|
rs200925575
|
|
|
NM_001378454.1(ALMS1):c.5582A>G (p.Tyr1861Cys)
|
rs556743491
|
|
|
NM_001378454.1(ALMS1):c.5673A>T (p.Ala1891=)
|
rs1572936907
|
|
|
NM_001378454.1(ALMS1):c.5732C>T (p.Pro1911Leu)
|
rs1671960359
|
|
|
NM_001378454.1(ALMS1):c.5785C>T (p.Arg1929Trp)
|
rs938557636
|
|
|
NM_001378454.1(ALMS1):c.5822A>G (p.Tyr1941Cys)
|
rs374676136
|
|
|
NM_001378454.1(ALMS1):c.5827C>A (p.Arg1943Ser)
|
rs370398704
|
|
|
NM_001378454.1(ALMS1):c.5828G>A (p.Arg1943His)
|
rs146669152
|
|
|
NM_001378454.1(ALMS1):c.596A>G (p.Glu199Gly)
|
rs1553399974
|
|
|
NM_001378454.1(ALMS1):c.6164A>T (p.Asn2055Ile)
|
rs772187394
|
|
|
NM_001378454.1(ALMS1):c.6166_6167dup (p.Leu2057fs)
|
rs759603306
|
|
|
NM_001378454.1(ALMS1):c.6235G>A (p.Glu2079Lys)
|
rs758696535
|
|
|
NM_001378454.1(ALMS1):c.6302C>A (p.Ser2101Ter)
|
rs28730854
|
|
|
NM_001378454.1(ALMS1):c.6302C>T (p.Ser2101Leu)
|
rs28730854
|
|
|
NM_001378454.1(ALMS1):c.6304A>C (p.Asn2102His)
|
rs1386959032
|
|
|
NM_001378454.1(ALMS1):c.6433C>T (p.Arg2145Ter)
|
rs770558150
|
|
|
NM_001378454.1(ALMS1):c.6524C>T (p.Ala2175Val)
|
rs549259627
|
|
|
NM_001378454.1(ALMS1):c.6679G>C (p.Ala2227Pro)
|
rs1671986679
|
|
|
NM_001378454.1(ALMS1):c.6723T>C (p.Phe2241=)
|
rs1671987512
|
|
|
NM_001378454.1(ALMS1):c.6775C>G (p.Leu2259Val)
|
rs748833907
|
|
|
NM_001378454.1(ALMS1):c.6811A>G (p.Asn2271Asp)
|
rs1558651314
|
|
|
NM_001378454.1(ALMS1):c.6854G>T (p.Arg2285Leu)
|
rs6546839
|
|
|
NM_001378454.1(ALMS1):c.6898del (p.Val2300fs)
|
rs1553404358
|
|
|
NM_001378454.1(ALMS1):c.6899T>C (p.Val2300Ala)
|
rs1057523384
|
|
|
NM_001378454.1(ALMS1):c.6901G>A (p.Val2301Ile)
|
rs1671992482
|
|
|
NM_001378454.1(ALMS1):c.6975A>G (p.Glu2325=)
|
rs1455390186
|
|
|
NM_001378454.1(ALMS1):c.7013C>A (p.Thr2338Lys)
|
rs373004988
|
|
|
NM_001378454.1(ALMS1):c.7093G>A (p.Glu2365Lys)
|
rs1572938591
|
|
|
NM_001378454.1(ALMS1):c.7193C>T (p.Thr2398Ile)
|
rs200470452
|
|
|
NM_001378454.1(ALMS1):c.7277G>T (p.Cys2426Phe)
|
rs35649068
|
|
|
NM_001378454.1(ALMS1):c.7288A>G (p.Ser2430Gly)
|
rs539112266
|
|
|
NM_001378454.1(ALMS1):c.7301_7302del (p.Glu2434fs)
|
rs1246023978
|
|
|
NM_001378454.1(ALMS1):c.7373_7376del (p.Asp2458fs)
|
rs1370417967
|
|
|
NM_001378454.1(ALMS1):c.7414G>C (p.Gly2472Arg)
|
rs1672006091
|
|
|
NM_001378454.1(ALMS1):c.7455C>A (p.Asn2485Lys)
|
rs988216695
|
|
|
NM_001378454.1(ALMS1):c.7473C>T (p.Ser2491=)
|
rs1572938980
|
|
|
NM_001378454.1(ALMS1):c.7507G>T (p.Ala2503Ser)
|
rs202060439
|
|
|
NM_001378454.1(ALMS1):c.7684A>C (p.Ser2562Arg)
|
rs772417159
|
|
|
NM_001378454.1(ALMS1):c.7755A>G (p.Gly2585=)
|
rs1672933172
|
|
|
NM_001378454.1(ALMS1):c.7810T>G (p.Phe2604Val)
|
rs1220754616
|
|
|
NM_001378454.1(ALMS1):c.7839C>T (p.Thr2613=)
|
rs746168704
|
|
|
NM_001378454.1(ALMS1):c.7981G>A (p.Glu2661Lys)
|
rs762452929
|
|
|
NM_001378454.1(ALMS1):c.8005C>T (p.Arg2669Ter)
|
rs549857076
|
|
|
NM_001378454.1(ALMS1):c.805C>T (p.Arg269Ter)
|
rs1426009756
|
|
|
NM_001378454.1(ALMS1):c.8246T>C (p.Val2749Ala)
|
rs2103891180
|
|
|
NM_001378454.1(ALMS1):c.8281C>G (p.Pro2761Ala)
|
rs369650940
|
|
|
NM_001378454.1(ALMS1):c.8306C>T (p.Ser2769Phe)
|
rs1060500037
|
|
|
NM_001378454.1(ALMS1):c.8311C>A (p.Pro2771Thr)
|
rs1245686264
|
|
|
NM_001378454.1(ALMS1):c.8335A>G (p.Asn2779Asp)
|
rs1672950651
|
|
|
NM_001378454.1(ALMS1):c.8388A>T (p.Gln2796His)
|
rs770409935
|
|
|
NM_001378454.1(ALMS1):c.8472C>T (p.Pro2824=)
|
rs1467835066
|
|
|
NM_001378454.1(ALMS1):c.8487T>C (p.Asn2829=)
|
rs756959656
|
|
|
NM_001378454.1(ALMS1):c.8556C>T (p.Ser2852=)
|
rs201560634
|
|
|
NM_001378454.1(ALMS1):c.8562A>G (p.Leu2854=)
|
rs2103892303
|
|
|
NM_001378454.1(ALMS1):c.8614A>G (p.Ile2872Val)
|
rs1672958523
|
|
|
NM_001378454.1(ALMS1):c.8775A>G (p.Glu2925=)
|
rs1672963670
|
|
|
NM_001378454.1(ALMS1):c.8779C>T (p.Arg2927Ter)
|
rs376244626
|
|
|
NM_001378454.1(ALMS1):c.8837A>G (p.His2946Arg)
|
rs574785830
|
|
|
NM_001378454.1(ALMS1):c.8959C>G (p.Leu2987Val)
|
rs952528298
|
|
|
NM_001378454.1(ALMS1):c.9006G>C (p.Lys3002Asn)
|
rs753980616
|
|
|
NM_001378454.1(ALMS1):c.9109CCT[1] (p.Pro3038del)
|
rs759799299
|
|
|
NM_001378454.1(ALMS1):c.9133T>C (p.Ser3045Pro)
|
rs1300179474
|
|
|
NM_001378454.1(ALMS1):c.9262C>T (p.His3088Tyr)
|
rs1672978412
|
|
|
NM_001378454.1(ALMS1):c.9325C>G (p.Gln3109Glu)
|
rs1558667813
|
|
|
NM_001378454.1(ALMS1):c.9336A>T (p.Glu3112Asp)
|
rs1558667820
|
|
|
NM_001378454.1(ALMS1):c.9337T>C (p.Ser3113Pro)
|
rs1572970696
|
|
|
NM_001378454.1(ALMS1):c.9377A>G (p.Gln3126Arg)
|
rs1553409872
|
|
|
NM_001378454.1(ALMS1):c.9423C>G (p.Asp3141Glu)
|
rs1486652095
|
|
|
NM_001378454.1(ALMS1):c.9678A>G (p.Gly3226=)
|
rs1175450599
|
|
|
NM_001378454.1(ALMS1):c.9721C>A (p.Pro3241Thr)
|
rs746680944
|
|
|
NM_001378454.1(ALMS1):c.9782-1G>A
|
rs1673992163
|
|
|
NM_001378454.1(ALMS1):c.9809C>T (p.Pro3270Leu)
|
rs551032553
|
|
|
NM_001378454.1(ALMS1):c.9843A>G (p.Gln3281=)
|
rs1573000980
|
|
|
NM_001378454.1(ALMS1):c.9875A>C (p.Lys3292Thr)
|
rs959966297
|
|
|
NM_001378454.1(ALMS1):c.996T>C (p.Ile332=)
|
rs760947833
|
|
|
NM_001384140.1(PCDH15):c.1003C>G (p.Pro335Ala)
|
rs2051732380
|
|
|
NM_001384140.1(PCDH15):c.1140T>C (p.Gly380=)
|
rs1315291067
|
|
|
NM_001384140.1(PCDH15):c.1195A>C (p.Ser399Arg)
|
rs199786639
|
|
|
NM_001384140.1(PCDH15):c.1411A>G (p.Arg471Gly)
|
rs1294048440
|
|
|
NM_001384140.1(PCDH15):c.1441-2A>C
|
rs758482449
|
|
|
NM_001384140.1(PCDH15):c.1442T>C (p.Ile481Thr)
|
rs1564625358
|
|
|
NM_001384140.1(PCDH15):c.1450T>C (p.Phe484Leu)
|
rs565753445
|
|
|
NM_001384140.1(PCDH15):c.158-2A>T
|
rs1304228309
|
|
|
NM_001384140.1(PCDH15):c.1697_1699del (p.Thr566del)
|
rs1394210823
|
|
|
NM_001384140.1(PCDH15):c.1799C>G (p.Thr600Ser)
|
rs1371226970
|
|
|
NM_001384140.1(PCDH15):c.1897G>A (p.Ala633Thr)
|
rs2042563083
|
|
|
NM_001384140.1(PCDH15):c.1927C>T (p.Arg643Ter)
|
rs727504301
|
|
|
NM_001384140.1(PCDH15):c.1998-21GTTT[2]
|
rs763135922
|
|
|
NM_001384140.1(PCDH15):c.2001G>A (p.Thr667=)
|
rs200699443
|
|
|
NM_001384140.1(PCDH15):c.2128G>A (p.Val710Ile)
|
rs1471005419
|
|
|
NM_001384140.1(PCDH15):c.2192A>C (p.Glu731Ala)
|
rs749438162
|
|
|
NM_001384140.1(PCDH15):c.2291G>T (p.Arg764Leu)
|
rs375282189
|
|
|
NM_001384140.1(PCDH15):c.2361TGT[2] (p.Val790del)
|
rs483352837
|
|
|
NM_001384140.1(PCDH15):c.2522T>C (p.Ile841Thr)
|
rs567811243
|
|
|
NM_001384140.1(PCDH15):c.2636G>A (p.Ser879Asn)
|
rs2092876050
|
|
|
NM_001384140.1(PCDH15):c.2751+7G>T
|
rs2092871169
|
|
|
NM_001384140.1(PCDH15):c.2751+8C>T
|
rs1360011079
|
|
|
NM_001384140.1(PCDH15):c.2868+5G>A
|
rs757993503
|
|
|
NM_001384140.1(PCDH15):c.2885G>A (p.Arg962His)
|
rs45483395
|
|
|
NM_001384140.1(PCDH15):c.2885G>T (p.Arg962Leu)
|
rs45483395
|
|
|
NM_001384140.1(PCDH15):c.2897G>C (p.Arg966Thr)
|
rs568865061
|
|
|
NM_001384140.1(PCDH15):c.297C>G (p.Thr99=)
|
rs762026724
|
|
|
NM_001384140.1(PCDH15):c.3012G>A (p.Leu1004=)
|
rs2088092428
|
|
|
NM_001384140.1(PCDH15):c.3074T>C (p.Leu1025Pro)
|
rs2088082400
|
|
|
NM_001384140.1(PCDH15):c.3122+1G>A
|
rs982893820
|
|
|
NM_001384140.1(PCDH15):c.321A>C (p.Pro107=)
|
rs1345969752
|
|
|
NM_001384140.1(PCDH15):c.3404A>G (p.Gln1135Arg)
|
rs1303595236
|
|
|
NM_001384140.1(PCDH15):c.3410A>G (p.Glu1137Gly)
|
rs1439470139
|
|
|
NM_001384140.1(PCDH15):c.3441dup (p.Phe1148fs)
|
rs770832663
|
|
|
NM_001384140.1(PCDH15):c.3450C>T (p.Ile1150=)
|
rs146374856
|
|
|
NM_001384140.1(PCDH15):c.3502-13dup
|
rs750835578
|
|
|
NM_001384140.1(PCDH15):c.3711T>C (p.Asp1237=)
|
rs61731382
|
|
|
NM_001384140.1(PCDH15):c.3797A>C (p.Asp1266Ala)
|
rs2078805937
|
|
|
NM_001384140.1(PCDH15):c.3813G>C (p.Leu1271Phe)
|
rs937214642
|
|
|
NM_001384140.1(PCDH15):c.3814G>C (p.Asp1272His)
|
rs766636473
|
|
|
NM_001384140.1(PCDH15):c.3964G>C (p.Asp1322His)
|
rs1411262816
|
|
|
NM_001384140.1(PCDH15):c.3987T>G (p.Phe1329Leu)
|
rs2077014769
|
|
|
NM_001384140.1(PCDH15):c.4039G>A (p.Glu1347Lys)
|
rs1358647851
|
|
|
NM_001384140.1(PCDH15):c.4127C>T (p.Ala1376Val)
|
rs752371584
|
|
|
NM_001384140.1(PCDH15):c.4279C>T (p.Pro1427Ser)
|
rs2076761111
|
|
|
NM_001384140.1(PCDH15):c.4303C>T (p.Pro1435Ser)
|
rs766039931
|
|
|
NM_001384140.1(PCDH15):c.4308G>T (p.Pro1436=)
|
rs1160719926
|
|
|
NM_001384140.1(PCDH15):c.4308GCC[4] (p.Pro1443del)
|
rs559130985
|
|
|
NM_001384140.1(PCDH15):c.4308GCC[6] (p.Pro1443dup)
|
rs559130985
|
|
|
NM_001384140.1(PCDH15):c.4308GCC[7] (p.Pro1442_Pro1443dup)
|
rs559130985
|
|
|
NM_001384140.1(PCDH15):c.4308GCC[8] (p.Pro1441_Pro1443dup)
|
rs559130985
|
|
|
NM_001384140.1(PCDH15):c.4311G>A (p.Pro1437=)
|
rs949983423
|
|
|
NM_001384140.1(PCDH15):c.4318C>G (p.Pro1440Ala)
|
rs2076754812
|
|
|
NM_001384140.1(PCDH15):c.4328C>T (p.Pro1443Leu)
|
rs767761740
|
|
|
NM_001384140.1(PCDH15):c.4343A>G (p.Tyr1448Cys)
|
rs397517459
|
|
|
NM_001384140.1(PCDH15):c.4367T>C (p.Ile1456Thr)
|
rs2076749331
|
|
|
NM_001384140.1(PCDH15):c.466G>A (p.Val156Met)
|
rs534173969
|
|
|
NM_001384140.1(PCDH15):c.705T>C (p.Asn235=)
|
rs112059717
|
|
|
NM_001384140.1(PCDH15):c.876+7A>G
|
rs1435301478
|
|
|
NM_001384140.1(PCDH15):c.974C>T (p.Ser325Phe)
|
rs145011716
|
|
|
NM_001384474.1(LOXHD1):c.1537_1538del (p.Leu513fs)
|
rs1555683951
|
|
|
NM_001384474.1(LOXHD1):c.1810-6C>A
|
rs199804946
|
|
|
NM_001384474.1(LOXHD1):c.1810-6C>G
|
rs199804946
|
|
|
NM_001384474.1(LOXHD1):c.1894G>T (p.Gly632Cys)
|
rs35088381
|
|
|
NM_001384474.1(LOXHD1):c.2251C>T (p.Arg751Trp)
|
rs376539851
|
|
|
NM_001384474.1(LOXHD1):c.2557C>T (p.Arg853Cys)
|
rs202178613
|
|
|
NM_001384474.1(LOXHD1):c.2696G>A (p.Arg899Gln)
|
rs745683775
|
|
|
NM_001384474.1(LOXHD1):c.2696G>C (p.Arg899Pro)
|
rs745683775
|
|
|
NM_001384474.1(LOXHD1):c.2766G>A (p.Lys922=)
|
rs552637512
|
|
|
NM_001384474.1(LOXHD1):c.2816AGA[3] (p.Lys942del)
|
rs142960762
|
|
|
NM_001384474.1(LOXHD1):c.2874_2891dup (p.Ser960_Ser965dup)
|
rs759237437
|
|
|
NM_001384474.1(LOXHD1):c.3061+1G>T
|
rs537227442
|
|
|
NM_001384474.1(LOXHD1):c.3145G>A (p.Glu1049Lys)
|
rs727504468
|
|
|
NM_001384474.1(LOXHD1):c.3283A>G (p.Asn1095Asp)
|
rs2037387758
|
|
|
NM_001384474.1(LOXHD1):c.3287_3295del (p.Thr1096_Asn1098del)
|
rs1488153218
|
|
|
NM_001384474.1(LOXHD1):c.3350+1G>A
|
rs1301706601
|
|
|
NM_001384474.1(LOXHD1):c.3619+9G>A
|
rs576031049
|
|
|
NM_001384474.1(LOXHD1):c.3626C>T (p.Thr1209Ile)
|
rs727504804
|
|
|
NM_001384474.1(LOXHD1):c.3689C>T (p.Thr1230Met)
|
rs546426989
|
|
|
NM_001384474.1(LOXHD1):c.4090G>T (p.Val1364Leu)
|
rs144935513
|
|
|
NM_001384474.1(LOXHD1):c.4095+1G>A
|
rs1280052681
|
|
|
NM_001384474.1(LOXHD1):c.4148C>T (p.Thr1383Met)
|
rs7244681
|
|
|
NM_001384474.1(LOXHD1):c.4251T>C (p.Leu1417=)
|
rs2036156768
|
|
|
NM_001384474.1(LOXHD1):c.4375+1G>T
|
rs2036150181
|
|
|
NM_001384474.1(LOXHD1):c.4740+1G>A
|
rs2144167172
|
|
|
NM_001384474.1(LOXHD1):c.4757G>T (p.Arg1586Leu)
|
rs369890906
|
|
|
NM_001384474.1(LOXHD1):c.4760G>C (p.Ser1587Thr)
|
rs1318916998
|
|
|
NM_001384474.1(LOXHD1):c.4957G>A (p.Gly1653Arg)
|
rs374897301
|
|
|
NM_001384474.1(LOXHD1):c.4957G>C (p.Gly1653Arg)
|
rs374897301
|
|
|
NM_001384474.1(LOXHD1):c.4993G>T (p.Asp1665Tyr)
|
rs200490958
|
|
|
NM_001384474.1(LOXHD1):c.5722A>C (p.Ile1908Leu)
|
rs781097312
|
|
|
NM_001384474.1(LOXHD1):c.6074del (p.Gly2025fs)
|
rs1442485603
|
|
|
NM_001384474.1(LOXHD1):c.6268C>T (p.Arg2090Trp)
|
rs569341831
|
|
|
NM_001384474.1(LOXHD1):c.6314C>A (p.Thr2105Asn)
|
rs1555653083
|
|
|
NM_001384474.1(LOXHD1):c.6481A>G (p.Thr2161Ala)
|
rs2032151816
|
|
|
NM_001386140.1(MTTP):c.159C>A (p.Asp53Glu)
|
rs72681995
|
|
|
NM_001386140.1(MTTP):c.1715A>G (p.Asn572Ser)
|
rs772602972
|
|
|
NM_001386140.1(MTTP):c.1729G>A (p.Ala577Thr)
|
rs1368249156
|
|
|
NM_001386140.1(MTTP):c.1784G>A (p.Arg595Gln)
|
rs746293101
|
|
|
NM_001386140.1(MTTP):c.1868-6C>T
|
rs772185759
|
|
|
NM_001386140.1(MTTP):c.2313T>C (p.Tyr771=)
|
rs1578257313
|
|
|
NM_001386140.1(MTTP):c.2340T>C (p.Asn780=)
|
rs1578257346
|
|
|
NM_001386140.1(MTTP):c.2378A>G (p.Asp793Gly)
|
rs780797954
|
|
|
NM_001386140.1(MTTP):c.2513G>A (p.Arg838Lys)
|
rs1726222895
|
|
|
NM_001386140.1(MTTP):c.2550C>G (p.Gly850=)
|
rs1272679414
|
|
|
NM_001386140.1(MTTP):c.2629A>G (p.Met877Val)
|
rs1726272076
|
|
|
NM_001386140.1(MTTP):c.419dup (p.Asn140fs)
|
rs762901763
|
|
|
NM_001386140.1(MTTP):c.490A>G (p.Thr164Ala)
|
rs563558722
|
|
|
NM_001386140.1(MTTP):c.543T>G (p.His181Gln)
|
rs150319930
|
|
|
NM_001386140.1(MTTP):c.759G>A (p.Lys253=)
|
rs1725509234
|
|
|
NM_001386140.1(MTTP):c.854C>T (p.Thr285Met)
|
rs566965111
|
|
|
NM_001692.4(ATP6V1B1):c.1037C>G (p.Pro346Arg)
|
rs781838938
|
|
|
NM_001692.4(ATP6V1B1):c.1155del (p.Ile386fs)
|
rs781969081
|
|
|
NM_001692.4(ATP6V1B1):c.1155dup (p.Ile386fs)
|
rs781969081
|
|
|
NM_001692.4(ATP6V1B1):c.1178C>G (p.Ser393Trp)
|
rs1333081051
|
|
|
NM_001692.4(ATP6V1B1):c.1356del (p.Phe452fs)
|
rs782549406
|
|
|
NM_001692.4(ATP6V1B1):c.1436G>A (p.Arg479His)
|
rs1680689994
|
|
|
NM_001692.4(ATP6V1B1):c.1466T>C (p.Ile489Thr)
|
rs1680690845
|
|
|
NM_001692.4(ATP6V1B1):c.1483G>T (p.Asp495Tyr)
|
rs1558681213
|
|
|
NM_001692.4(ATP6V1B1):c.242T>C (p.Leu81Pro)
|
rs121964880
|
|
|
NM_001692.4(ATP6V1B1):c.535C>T (p.Arg179Cys)
|
rs1318500139
|
|
|
NM_001692.4(ATP6V1B1):c.5C>A (p.Ala2Asp)
|
rs876657744
|
|
|
NM_001692.4(ATP6V1B1):c.815C>T (p.Ala272Val)
|
rs145735762
|
|
|
NM_001692.4(ATP6V1B1):c.931G>A (p.Val311Met)
|
rs1558679896
|
|
|
NM_002454.3(MTRR):c.1091_1093del (p.Cys364del)
|
rs796052001
|
|
|
NM_002454.3(MTRR):c.1364G>C (p.Cys455Ser)
|
rs764469824
|
|
|
NM_002454.3(MTRR):c.1371-1G>A
|
rs1219605974
|
|
|
NM_002454.3(MTRR):c.1490T>C (p.Val497Ala)
|
rs1737849237
|
|
|
NM_002454.3(MTRR):c.1678_1681del (p.Glu560Asnfs)
|
rs768980918
|
|
|
NM_002454.3(MTRR):c.1717G>A (p.Ala573Thr)
|
rs1738616151
|
|
|
NM_002454.3(MTRR):c.1875G>A (p.Val625=)
|
rs12347
|
|
|
NM_002454.3(MTRR):c.1932C>T (p.Asn644=)
|
rs374659219
|
|
|
NM_002454.3(MTRR):c.1998A>G (p.Gln666=)
|
rs767507060
|
|
|
NM_002454.3(MTRR):c.2016T>C (p.Val672=)
|
rs1162603124
|
|
|
NM_002454.3(MTRR):c.220A>G (p.Lys74Glu)
|
rs1748351304
|
|
|
NM_002454.3(MTRR):c.993G>C (p.Leu331=)
|
rs777698463
|
|
|
NM_002454.3(MTRR):c.997C>G (p.Leu333Val)
|
rs10064631
|
|
|
NM_002454.3(MTRR):c.99A>C (p.Ala33=)
|
rs1747850617
|
|
|
NM_002485.5(NBN):c.1005AAC[1] (p.Thr337del)
|
rs770500095
|
|
|
NM_002485.5(NBN):c.1006A>G (p.Thr336Ala)
|
rs1554560506
|
|
|
NM_002485.5(NBN):c.1039T>C (p.Ser347Pro)
|
rs1563539035
|
|
|
NM_002485.5(NBN):c.1058T>C (p.Met353Thr)
|
rs1028462350
|
|
|
NM_002485.5(NBN):c.105T>A (p.Ile35=)
|
rs78870221
|
|
|
NM_002485.5(NBN):c.105T>G (p.Ile35Met)
|
rs78870221
|
|
|
NM_002485.5(NBN):c.1061C>T (p.Pro354Leu)
|
rs1354459986
|
|
|
NM_002485.5(NBN):c.10C>G (p.Leu4Val)
|
rs1426394881
|
|
|
NM_002485.5(NBN):c.1136A>G (p.Glu379Gly)
|
rs1563532732
|
|
|
NM_002485.5(NBN):c.1138A>G (p.Arg380Gly)
|
rs1810674788
|
|
|
NM_002485.5(NBN):c.1142del (p.Pro381fs)
|
rs587781969
|
|
|
NM_002485.5(NBN):c.1146A>C (p.Lys382Asn)
|
rs1554559357
|
|
|
NM_002485.5(NBN):c.115C>A (p.Gln39Lys)
|
rs377730553
|
|
|
NM_002485.5(NBN):c.115C>G (p.Gln39Glu)
|
rs377730553
|
|
|
NM_002485.5(NBN):c.1160C>G (p.Ser387Cys)
|
rs747632184
|
|
|
NM_002485.5(NBN):c.1182A>G (p.Arg394=)
|
rs1586059412
|
|
|
NM_002485.5(NBN):c.1194A>C (p.Gln398His)
|
rs200046373
|
|
|
NM_002485.5(NBN):c.1194A>G (p.Gln398=)
|
rs200046373
|
|
|
NM_002485.5(NBN):c.1199C>T (p.Ala400Val)
|
rs779218232
|
|
|
NM_002485.5(NBN):c.11T>C (p.Leu4Pro)
|
rs748090667
|
|
|
NM_002485.5(NBN):c.11T>G (p.Leu4Arg)
|
rs748090667
|
|
|
NM_002485.5(NBN):c.1202C>G (p.Pro401Arg)
|
rs104895033
|
|
|
NM_002485.5(NBN):c.1220G>A (p.Cys407Tyr)
|
rs1473253247
|
|
|
NM_002485.5(NBN):c.1243_1244insTTA (p.Asn414_Ser415insIle)
|
rs587781532
|
|
|
NM_002485.5(NBN):c.1282A>G (p.Asn428Asp)
|
rs786202302
|
|
|
NM_002485.5(NBN):c.1283A>T (p.Asn428Ile)
|
rs1406123091
|
|
|
NM_002485.5(NBN):c.1290G>C (p.Gln430His)
|
rs1554559149
|
|
|
NM_002485.5(NBN):c.1301C>T (p.Thr434Ile)
|
rs757452107
|
|
|
NM_002485.5(NBN):c.1313G>A (p.Ser438Asn)
|
rs786203131
|
|
|
NM_002485.5(NBN):c.1313G>T (p.Ser438Ile)
|
rs786203131
|
|
|
NM_002485.5(NBN):c.1366A>G (p.Arg456Gly)
|
rs1586058203
|
|
|
NM_002485.5(NBN):c.1370A>G (p.Asn457Ser)
|
rs876659312
|
|
|
NM_002485.5(NBN):c.1381C>T (p.Pro461Ser)
|
rs1554559015
|
|
|
NM_002485.5(NBN):c.1385C>T (p.Ser462Phe)
|
rs1563530730
|
|
|
NM_002485.5(NBN):c.139G>C (p.Val47Leu)
|
rs876658446
|
|
|
NM_002485.5(NBN):c.1403G>A (p.Arg468Lys)
|
rs781213350
|
|
|
NM_002485.5(NBN):c.1406A>G (p.Asp469Gly)
|
rs780365310
|
|
|
NM_002485.5(NBN):c.1417C>G (p.Gln473Glu)
|
rs755805461
|
|
|
NM_002485.5(NBN):c.1423A>C (p.Met475Leu)
|
rs767106269
|
|
|
NM_002485.5(NBN):c.1432T>C (p.Cys478Arg)
|
rs1199013619
|
|
|
NM_002485.5(NBN):c.1448T>C (p.Ile483Thr)
|
rs876658347
|
|
|
NM_002485.5(NBN):c.1463C>G (p.Ser488Cys)
|
rs1060503472
|
|
|
NM_002485.5(NBN):c.1492C>A (p.Pro498Thr)
|
rs915825113
|
|
|
NM_002485.5(NBN):c.1509T>G (p.Asn503Lys)
|
rs876660751
|
|
|
NM_002485.5(NBN):c.1511A>G (p.Lys504Arg)
|
rs757754183
|
|
|
NM_002485.5(NBN):c.1513G>A (p.Glu505Lys)
|
rs1810553632
|
|
|
NM_002485.5(NBN):c.1520A>G (p.His507Arg)
|
rs587782520
|
|
|
NM_002485.5(NBN):c.1525T>C (p.Ser509Pro)
|
rs1810552588
|
|
|
NM_002485.5(NBN):c.1575T>A (p.Asp525Glu)
|
rs587782150
|
|
|
NM_002485.5(NBN):c.1594G>T (p.Val532Leu)
|
rs545435120
|
|
|
NM_002485.5(NBN):c.161T>C (p.Val54Ala)
|
rs769700749
|
|
|
NM_002485.5(NBN):c.1622C>G (p.Ala541Gly)
|
rs876658501
|
|
|
NM_002485.5(NBN):c.1642A>G (p.Asn548Asp)
|
rs772234785
|
|
|
NM_002485.5(NBN):c.1666G>A (p.Val556Met)
|
rs771567358
|
|
|
NM_002485.5(NBN):c.1672A>C (p.Ile558Leu)
|
rs876659451
|
|
|
NM_002485.5(NBN):c.1672A>G (p.Ile558Val)
|
rs876659451
|
|
|
NM_002485.5(NBN):c.16C>T (p.Pro6Ser)
|
rs730881859
|
|
|
NM_002485.5(NBN):c.1700T>G (p.Phe567Cys)
|
rs980167139
|
|
|
NM_002485.5(NBN):c.1715C>T (p.Pro572Leu)
|
rs1554558303
|
|
|
NM_002485.5(NBN):c.171G>T (p.Leu57=)
|
rs1554569001
|
|
|
NM_002485.5(NBN):c.1738G>A (p.Val580Ile)
|
rs878854506
|
|
|
NM_002485.5(NBN):c.1777C>A (p.Pro593Thr)
|
rs146989944
|
|
|
NM_002485.5(NBN):c.1787A>G (p.Asp596Gly)
|
rs1005715125
|
|
|
NM_002485.5(NBN):c.1787A>T (p.Asp596Val)
|
rs1005715125
|
|
|
NM_002485.5(NBN):c.1796C>G (p.Thr599Arg)
|
rs775848374
|
|
|
NM_002485.5(NBN):c.1796C>T (p.Thr599Ile)
|
rs775848374
|
|
|
NM_002485.5(NBN):c.1837A>G (p.Lys613Glu)
|
rs1554558199
|
|
|
NM_002485.5(NBN):c.1842A>G (p.Ile614Met)
|
rs770345026
|
|
|
NM_002485.5(NBN):c.1844C>T (p.Ser615Phe)
|
rs1810520002
|
|
|
NM_002485.5(NBN):c.1880A>G (p.Lys627Arg)
|
rs762174459
|
|
|
NM_002485.5(NBN):c.1882_1885del (p.Glu628fs)
|
rs1178384498
|
|
|
NM_002485.5(NBN):c.1913C>A (p.Ser638Tyr)
|
rs756036331
|
|
|
NM_002485.5(NBN):c.1914+5G>A
|
rs1586043509
|
|
|
NM_002485.5(NBN):c.191C>G (p.Pro64Arg)
|
rs1563581492
|
|
|
NM_002485.5(NBN):c.1930C>A (p.Gln644Lys)
|
rs764050423
|
|
|
NM_002485.5(NBN):c.1941T>A (p.Ser647Arg)
|
rs1477953712
|
|
|
NM_002485.5(NBN):c.194T>A (p.Val65Glu)
|
rs1563581457
|
|
|
NM_002485.5(NBN):c.2008A>G (p.Arg670Gly)
|
rs876658488
|
|
|
NM_002485.5(NBN):c.2027A>G (p.Asn676Ser)
|
rs1404296922
|
|
|
NM_002485.5(NBN):c.2039G>T (p.Gly680Val)
|
rs1425101720
|
|
|
NM_002485.5(NBN):c.2068A>C (p.Lys690Gln)
|
rs587780092
|
|
|
NM_002485.5(NBN):c.2071-1G>A
|
rs786201965
|
|
|
NM_002485.5(NBN):c.2071-1G>C
|
rs786201965
|
|
|
NM_002485.5(NBN):c.2071-4A>T
|
rs746994234
|
|
|
NM_002485.5(NBN):c.2071-8T>C
|
rs1178683426
|
|
|
NM_002485.5(NBN):c.2075C>T (p.Thr692Ile)
|
rs1060503474
|
|
|
NM_002485.5(NBN):c.2087C>T (p.Ala696Val)
|
rs1462278909
|
|
|
NM_002485.5(NBN):c.209A>G (p.Asp70Gly)
|
rs1586108952
|
|
|
NM_002485.5(NBN):c.2101C>T (p.His701Tyr)
|
rs587781567
|
|
|
NM_002485.5(NBN):c.2131C>T (p.His711Tyr)
|
rs780333168
|
|
|
NM_002485.5(NBN):c.2140C>G (p.Arg714Gly)
|
rs730881864
|
|
|
NM_002485.5(NBN):c.2164T>G (p.Trp722Gly)
|
rs1554555748
|
|
|
NM_002485.5(NBN):c.2185-1G>A
|
rs1057517262
|
|
|
NM_002485.5(NBN):c.2198A>G (p.His733Arg)
|
rs998714046
|
|
|
NM_002485.5(NBN):c.2205AGA[1] (p.Glu737del)
|
rs1554554251
|
|
|
NM_002485.5(NBN):c.2206G>T (p.Glu736Ter)
|
rs756831345
|
|
|
NM_002485.5(NBN):c.220T>C (p.Tyr74His)
|
rs587780094
|
|
|
NM_002485.5(NBN):c.2211G>T (p.Glu737Asp)
|
rs753596803
|
|
|
NM_002485.5(NBN):c.221A>G (p.Tyr74Cys)
|
rs1060503471
|
|
|
NM_002485.5(NBN):c.2246A>T (p.Tyr749Phe)
|
rs864622446
|
|
|
NM_002485.5(NBN):c.2258G>A (p.Arg753Lys)
|
rs773020664
|
|
|
NM_002485.5(NBN):c.231T>A (p.Phe77Leu)
|
rs1554568336
|
|
|
NM_002485.5(NBN):c.247A>G (p.Met83Val)
|
rs955258267
|
|
|
NM_002485.5(NBN):c.260T>C (p.Phe87Ser)
|
rs786203573
|
|
|
NM_002485.5(NBN):c.283G>C (p.Asp95His)
|
rs61753720
|
|
|
NM_002485.5(NBN):c.320+1G>A
|
rs1364533250
|
|
|
NM_002485.5(NBN):c.332A>C (p.Glu111Ala)
|
rs876659320
|
|
|
NM_002485.5(NBN):c.340G>T (p.Val114Phe)
|
rs771034958
|
|
|
NM_002485.5(NBN):c.350CTT[1] (p.Ser118del)
|
rs730881841
|
|
|
NM_002485.5(NBN):c.356G>A (p.Cys119Tyr)
|
rs749272832
|
|
|
NM_002485.5(NBN):c.363T>A (p.Asp121Glu)
|
rs987369991
|
|
|
NM_002485.5(NBN):c.36A>T (p.Gly12=)
|
rs1554569658
|
|
|
NM_002485.5(NBN):c.37+6G>C
|
rs540868733
|
|
|
NM_002485.5(NBN):c.388C>G (p.Gln130Glu)
|
rs1586107038
|
|
|
NM_002485.5(NBN):c.403C>G (p.Leu135Val)
|
rs1409617560
|
|
|
NM_002485.5(NBN):c.407G>A (p.Gly136Glu)
|
rs1812025943
|
|
|
NM_002485.5(NBN):c.442A>G (p.Thr148Ala)
|
rs1060503479
|
|
|
NM_002485.5(NBN):c.480+3A>G
|
rs756817252
|
|
|
NM_002485.5(NBN):c.503G>A (p.Gly168Glu)
|
rs1554566728
|
|
|
NM_002485.5(NBN):c.536A>T (p.Glu179Val)
|
rs864622578
|
|
|
NM_002485.5(NBN):c.565C>G (p.Gln189Glu)
|
rs1198614767
|
|
|
NM_002485.5(NBN):c.578T>C (p.Ile193Thr)
|
rs1586101162
|
|
|
NM_002485.5(NBN):c.585-2A>G
|
rs772005832
|
|
|
NM_002485.5(NBN):c.585-3C>T
|
rs779430868
|
|
|
NM_002485.5(NBN):c.592C>T (p.Pro198Ser)
|
rs1554564306
|
|
|
NM_002485.5(NBN):c.602A>G (p.Asp201Gly)
|
rs587780098
|
|
|
NM_002485.5(NBN):c.657_661del (p.Lys219fs)
|
rs587776650
|
|
|
NM_002485.5(NBN):c.677C>T (p.Thr226Ile)
|
rs1554564219
|
|
|
NM_002485.5(NBN):c.682A>G (p.Ile228Val)
|
rs1204337347
|
|
|
NM_002485.5(NBN):c.698_701del (p.Lys233fs)
|
rs587780100
|
|
|
NM_002485.5(NBN):c.702+1G>C
|
rs1057517104
|
|
|
NM_002485.5(NBN):c.715A>C (p.Ser239Arg)
|
rs587781868
|
|
|
NM_002485.5(NBN):c.724G>A (p.Val242Ile)
|
rs1434146100
|
|
|
NM_002485.5(NBN):c.77T>C (p.Val26Ala)
|
rs781536675
|
|
|
NM_002485.5(NBN):c.818C>T (p.Thr273Ile)
|
rs1554563912
|
|
|
NM_002485.5(NBN):c.832T>G (p.Ser278Ala)
|
rs1225178489
|
|
|
NM_002485.5(NBN):c.836A>C (p.Gln279Pro)
|
rs864622116
|
|
|
NM_002485.5(NBN):c.847C>T (p.Pro283Ser)
|
rs1811453358
|
|
|
NM_002485.5(NBN):c.867G>T (p.Trp289Cys)
|
rs1060503475
|
|
|
NM_002485.5(NBN):c.872A>G (p.Gln291Arg)
|
rs587778547
|
|
|
NM_002485.5(NBN):c.880A>T (p.Met294Leu)
|
rs746381477
|
|
|
NM_002485.5(NBN):c.91T>C (p.Cys31Arg)
|
rs876658553
|
|
|
NM_002485.5(NBN):c.925G>A (p.Glu309Lys)
|
rs587780101
|
|
|
NM_002485.5(NBN):c.951G>A (p.Met317Ile)
|
rs1586075972
|
|
|
NM_002485.5(NBN):c.955A>G (p.Thr319Ala)
|
rs876659969
|
|
|
NM_002485.5(NBN):c.976C>T (p.Gln326Ter)
|
rs121908973
|
|
|
NM_002485.5(NBN):c.97A>G (p.Ile33Val)
|
rs1563584435
|
|
|
NM_002617.4(PEX10):c.341A>G (p.Glu114Gly)
|
rs554490737
|
|
|
NM_002617.4(PEX10):c.4del (p.Ala2fs)
|
rs62636524
|
|
|
NM_002617.4(PEX10):c.533A>G (p.His178Arg)
|
rs1643081768
|
|
|
NM_002617.4(PEX10):c.601-29T>C
|
rs1195070492
|
|
|
NM_002617.4(PEX10):c.601-42C>A
|
rs1164836731
|
|
|
NM_002617.4(PEX10):c.604C>A (p.Arg202Ser)
|
rs149615608
|
|
|
NM_002617.4(PEX10):c.604C>T (p.Arg202Cys)
|
rs149615608
|
|
|
NM_002617.4(PEX10):c.712G>A (p.Gly238Ser)
|
rs61736380
|
|
|
NM_002617.4(PEX10):c.757C>T (p.Arg253Cys)
|
rs756537855
|
|
|
NM_002617.4(PEX10):c.819C>T (p.Cys273=)
|
rs1570098961
|
|
|
NM_002617.4(PEX10):c.81C>G (p.Ser27Arg)
|
rs1257672002
|
|
|
NM_002617.4(PEX10):c.835G>T (p.Glu279Ter)
|
rs62641225
|
|
|
NM_002617.4(PEX10):c.913-9T>C
|
rs1642980853
|
|
|
NM_002617.4(PEX10):c.946C>T (p.Pro316Ser)
|
rs1642979023
|
|
|
NM_003384.3(VRK1):c.1004A>G (p.Asp335Gly)
|
rs1888350254
|
|
|
NM_003384.3(VRK1):c.1013A>G (p.Lys338Arg)
|
rs779911846
|
|
|
NM_003384.3(VRK1):c.1069-6T>C
|
rs1889016062
|
|
|
NM_003384.3(VRK1):c.1070A>T (p.Lys357Met)
|
rs1595691552
|
|
|
NM_003384.3(VRK1):c.217-3A>G
|
rs1009112116
|
|
|
NM_003384.3(VRK1):c.418A>G (p.Lys140Glu)
|
rs764788560
|
|
|
NM_003384.3(VRK1):c.439A>G (p.Lys147Glu)
|
rs1888005284
|
|
|
NM_003384.3(VRK1):c.526G>A (p.Gly176Arg)
|
rs888762581
|
|
|
NM_003384.3(VRK1):c.546TCT[2] (p.Leu185del)
|
rs774219368
|
|
|
NM_003384.3(VRK1):c.668G>T (p.Gly223Val)
|
rs1555361508
|
|
|
NM_003384.3(VRK1):c.690C>T (p.Ile230=)
|
rs747694940
|
|
|
NM_003384.3(VRK1):c.706G>A (p.Val236Met)
|
rs771364038
|
|
|
NM_003384.3(VRK1):c.817G>C (p.Asp273His)
|
rs1595677216
|
|
|
NM_003384.3(VRK1):c.830G>A (p.Arg277Lys)
|
rs1888148684
|
|
|
NM_003384.3(VRK1):c.882C>G (p.Asn294Lys)
|
rs541660707
|
|
|
NM_003384.3(VRK1):c.944C>T (p.Pro315Leu)
|
rs761494436
|
|
|
NM_003384.3(VRK1):c.962G>A (p.Arg321His)
|
rs200927943
|
|
|
NM_003494.3(DYSF):c.2779del (p.Ala927Leufs)
|
rs727503909
|
|
|
NM_003494.3(DYSF):c.3504dup (p.Lys1169Glnfs)
|
rs886042504
|
|
|
NM_003494.4(DYSF):c.1481-1G>A
|
rs398123770
|
|
|
NM_003494.4(DYSF):c.1486C>T (p.Pro496Ser)
|
rs368577086
|
|
|
NM_003494.4(DYSF):c.17T>A (p.Ile6Asn)
|
rs1354334539
|
|
|
NM_003494.4(DYSF):c.2T>C (p.Met1Thr)
|
rs1459713589
|
|
|
NM_004004.6(GJB2):c.-16C>T
|
rs759745271
|
|
|
NM_004004.6(GJB2):c.-23G>T
|
rs786204734
|
|
|
NM_004004.6(GJB2):c.-263C>G
|
rs1593353804
|
|
|
NM_004004.6(GJB2):c.100A>T (p.Met34Leu)
|
rs564084861
|
|
|
NM_004004.6(GJB2):c.108C>T (p.Leu36=)
|
rs138547875
|
|
|
NM_004004.6(GJB2):c.176_191del (p.Gly59fs)
|
rs750188782
|
|
|
NM_004004.6(GJB2):c.187G>T (p.Val63Leu)
|
rs370696868
|
|
|
NM_004004.6(GJB2):c.195C>G (p.Tyr65Ter)
|
rs763572195
|
|
|
NM_004004.6(GJB2):c.230G>A (p.Trp77Ter)
|
rs104894395
|
|
|
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter)
|
rs80338944
|
|
|
NM_004004.6(GJB2):c.235del (p.Leu79fs)
|
rs80338943
|
|
|
NM_004004.6(GJB2):c.250G>A (p.Val84Met)
|
rs104894409
|
|
|
NM_004004.6(GJB2):c.250G>C (p.Val84Leu)
|
rs104894409
|
|
|
NM_004004.6(GJB2):c.250G>T (p.Val84Leu)
|
rs104894409
|
|
|
NM_004004.6(GJB2):c.284T>C (p.Val95Ala)
|
rs1250849257
|
|
|
NM_004004.6(GJB2):c.313_326del (p.Lys105fs)
|
rs111033253
|
|
|
NM_004004.6(GJB2):c.322A>G (p.Lys108Glu)
|
rs1959059283
|
|
|
NM_004004.6(GJB2):c.334_335del (p.Lys112fs)
|
rs756484720
|
|
|
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del)
|
rs80338947
|
|
|
NM_004004.6(GJB2):c.35del (p.Gly12fs)
|
rs80338939
|
|
|
NM_004004.6(GJB2):c.35dup (p.Val13fs)
|
rs80338939
|
|
|
NM_004004.6(GJB2):c.380G>T (p.Arg127Leu)
|
rs111033196
|
|
|
NM_004004.6(GJB2):c.389G>C (p.Gly130Ala)
|
rs779018464
|
|
|
NM_004004.6(GJB2):c.428G>A (p.Arg143Gln)
|
rs104894401
|
|
|
NM_004004.6(GJB2):c.445G>A (p.Ala149Thr)
|
rs111033225
|
|
|
NM_004004.6(GJB2):c.456C>A (p.Tyr152Ter)
|
rs111033420
|
|
|
NM_004004.6(GJB2):c.465T>A (p.Tyr155Ter)
|
rs772264564
|
|
|
NM_004004.6(GJB2):c.59T>C (p.Ile20Thr)
|
rs1057517519
|
|
|
NM_004004.6(GJB2):c.632_633del (p.Cys211fs)
|
rs587783646
|
|
|
NM_004004.6(GJB2):c.95G>A (p.Arg32His)
|
rs111033190
|
|
|
NM_005709.4(USH1C):c.1218G>T (p.Gln406His)
|
rs928672021
|
|
|
NM_005709.4(USH1C):c.1220G>A (p.Gly407Glu)
|
rs143923730
|
|
|
NM_005709.4(USH1C):c.1220del (p.Gly407fs)
|
rs1207247951
|
|
|
NM_005709.4(USH1C):c.1283A>G (p.Gln428Arg)
|
rs746527367
|
|
|
NM_006019.4(TCIRG1):c.1006C>G (p.Leu336Val)
|
rs1855355458
|
|
|
NM_006019.4(TCIRG1):c.1006C>T (p.Leu336=)
|
rs1855355458
|
|
|
NM_006019.4(TCIRG1):c.1100T>A (p.Phe367Tyr)
|
rs913332283
|
|
|
NM_006019.4(TCIRG1):c.1119C>T (p.Gly373=)
|
rs759279602
|
|
|
NM_006019.4(TCIRG1):c.117+4A>T
|
rs751881962
|
|
|
NM_006019.4(TCIRG1):c.1305+2T>C
|
rs1554997818
|
|
|
NM_006019.4(TCIRG1):c.1407C>A (p.Thr469=)
|
rs570336313
|
|
|
NM_006019.4(TCIRG1):c.1528G>A (p.Gly510Arg)
|
rs868702370
|
|
|
NM_006019.4(TCIRG1):c.1623G>A (p.Leu541=)
|
rs534950651
|
|
|
NM_006019.4(TCIRG1):c.1674-9del
|
rs1855654196
|
|
|
NM_006019.4(TCIRG1):c.170G>T (p.Arg57Leu)
|
rs150648332
|
|
|
NM_006019.4(TCIRG1):c.17G>A (p.Arg6Gln)
|
rs768203698
|
|
|
NM_006019.4(TCIRG1):c.1887+130C>T
|
rs928213157
|
|
|
NM_006019.4(TCIRG1):c.1887+175A>G
|
rs2075609
|
|
|
NM_006019.4(TCIRG1):c.1978C>G (p.Arg660Gly)
|
rs528045019
|
|
|
NM_006019.4(TCIRG1):c.1996A>C (p.Arg666=)
|
rs767714758
|
|
|
NM_006019.4(TCIRG1):c.2106A>G (p.Glu702=)
|
rs771368616
|
|
|
NM_006019.4(TCIRG1):c.2218_2219del (p.Leu740fs)
|
rs1565164499
|
|
|
NM_006019.4(TCIRG1):c.2236C>T (p.Gln746Ter)
|
rs748659068
|
|
|
NM_006019.4(TCIRG1):c.2293G>A (p.Glu765Lys)
|
rs1855752104
|
|
|
NM_006019.4(TCIRG1):c.2301C>T (p.Gly767=)
|
rs768701072
|
|
|
NM_006019.4(TCIRG1):c.2392C>T (p.Leu798=)
|
rs1855760265
|
|
|
NM_006019.4(TCIRG1):c.243G>T (p.Pro81=)
|
rs756073508
|
|
|
NM_006019.4(TCIRG1):c.261G>A (p.Pro87=)
|
rs887998539
|
|
|
NM_006019.4(TCIRG1):c.308G>C (p.Arg103Pro)
|
rs775326246
|
|
|
NM_006019.4(TCIRG1):c.384C>T (p.His128=)
|
rs3808973
|
|
|
NM_006019.4(TCIRG1):c.630+2T>C
|
rs1392364437
|
|
|
NM_006019.4(TCIRG1):c.979C>A (p.Arg327=)
|
rs749361897
|
|
|
NM_006118.4(HAX1):c.105_110dup (p.Glu39_Glu40dup)
|
rs755700193
|
|
|
NM_006118.4(HAX1):c.107AAG[4] (p.Glu40del)
|
rs753894148
|
|
|
NM_006118.4(HAX1):c.125G>A (p.Gly42Asp)
|
rs1001600867
|
|
|
NM_006118.4(HAX1):c.125dup (p.Ser43fs)
|
rs745666437
|
|
|
NM_006118.4(HAX1):c.182T>G (p.Phe61Cys)
|
rs146452018
|
|
|
NM_006118.4(HAX1):c.18C>G (p.Leu6=)
|
rs375735851
|
|
|
NM_006118.4(HAX1):c.207AGG[2] (p.Gly72del)
|
rs1558251515
|
|
|
NM_006118.4(HAX1):c.289G>T (p.Ala97Ser)
|
rs1684869052
|
|
|
NM_006118.4(HAX1):c.430dup (p.Val144fs)
|
rs770288337
|
|
|
NM_006118.4(HAX1):c.436G>A (p.Glu146Lys)
|
rs114883767
|
|
|
NM_006118.4(HAX1):c.820C>T (p.Arg274Cys)
|
rs753078666
|
|
|
NM_006432.5(NPC2):c.133C>T (p.Gln45Ter)
|
rs80358262
|
|
|
NM_006432.5(NPC2):c.165C>T (p.Tyr55=)
|
rs2086712268
|
|
|
NM_006432.5(NPC2):c.352G>T (p.Glu118Ter)
|
rs80358266
|
|
|
NM_006432.5(NPC2):c.454T>C (p.Ter152Gln)
|
rs2086642019
|
|
|
NM_006432.5(NPC2):c.58G>A (p.Glu20Lys)
|
rs80358260
|
|
|
NM_006432.5(NPC2):c.58G>T (p.Glu20Ter)
|
rs80358260
|
|
|
NM_007123.6(USH2A):c.4510dup (p.Arg1504fs)
|
rs727503731
|
|
|
NM_007259.5(VPS45):c.1181A>G (p.His394Arg)
|
rs1486347658
|
|
|
NM_007259.5(VPS45):c.1267G>A (p.Val423Met)
|
rs201002467
|
|
|
NM_007259.5(VPS45):c.1371+9A>T
|
rs368568806
|
|
|
NM_007259.5(VPS45):c.173A>G (p.Gln58Arg)
|
rs1654862605
|
|
|
NM_007259.5(VPS45):c.419A>G (p.Asn140Ser)
|
rs782339252
|
|
|
NM_007259.5(VPS45):c.702C>T (p.Ala234=)
|
rs782301145
|
|
|
NM_007259.5(VPS45):c.739A>G (p.Ile247Val)
|
rs1553799320
|
|
|
NM_014363.6(SACS):c.10227A>G (p.Ser3409=)
|
rs1593123878
|
|
|
NM_014363.6(SACS):c.10291G>C (p.Val3431Leu)
|
rs144179865
|
|
|
NM_014363.6(SACS):c.10298C>G (p.Thr3433Arg)
|
rs200991790
|
|
|
NM_014363.6(SACS):c.10387T>C (p.Tyr3463His)
|
rs1883623876
|
|
|
NM_014363.6(SACS):c.1061C>G (p.Thr354Ser)
|
rs1425519295
|
|
|
NM_014363.6(SACS):c.1066A>C (p.Ile356Leu)
|
rs148286091
|
|
|
NM_014363.6(SACS):c.1066A>G (p.Ile356Val)
|
rs148286091
|
|
|
NM_014363.6(SACS):c.10731A>C (p.Thr3577=)
|
rs759287298
|
|
|
NM_014363.6(SACS):c.11003C>G (p.Pro3668Arg)
|
rs1883577094
|
|
|
NM_014363.6(SACS):c.11215G>A (p.Val3739Ile)
|
rs1027336196
|
|
|
NM_014363.6(SACS):c.11291A>C (p.Glu3764Ala)
|
rs1593122374
|
|
|
NM_014363.6(SACS):c.11374C>T (p.Arg3792Ter)
|
rs565203731
|
|
|
NM_014363.6(SACS):c.11853A>G (p.Leu3951=)
|
rs1883510768
|
|
|
NM_014363.6(SACS):c.11927G>A (p.Ser3976Asn)
|
rs1883504909
|
|
|
NM_014363.6(SACS):c.12232C>A (p.Arg4078=)
|
rs141315518
|
|
|
NM_014363.6(SACS):c.1228_1229del (p.Leu410fs)
|
rs1057516365
|
|
|
NM_014363.6(SACS):c.12829C>T (p.Pro4277Ser)
|
rs370655945
|
|
|
NM_014363.6(SACS):c.12884C>T (p.Pro4295Leu)
|
rs781029021
|
|
|
NM_014363.6(SACS):c.12905C>A (p.Ser4302Tyr)
|
rs778808568
|
|
|
NM_014363.6(SACS):c.13225A>G (p.Lys4409Glu)
|
rs775817492
|
|
|
NM_014363.6(SACS):c.1331C>G (p.Ala444Gly)
|
rs951437363
|
|
|
NM_014363.6(SACS):c.13320G>A (p.Ser4440=)
|
rs759847087
|
|
|
NM_014363.6(SACS):c.1332A>G (p.Ala444=)
|
rs1039811925
|
|
|
NM_014363.6(SACS):c.13614C>A (p.Tyr4538Ter)
|
rs927804920
|
|
|
NM_014363.6(SACS):c.13738_13739del (p.Ter4580LysextTer?)
|
rs776682685
|
|
|
NM_014363.6(SACS):c.1391T>G (p.Ile464Ser)
|
rs1593144937
|
|
|
NM_014363.6(SACS):c.141G>A (p.Ser47=)
|
rs1593160882
|
|
|
NM_014363.6(SACS):c.1498G>A (p.Val500Ile)
|
rs1244967438
|
|
|
NM_014363.6(SACS):c.1799A>G (p.Gln600Arg)
|
rs1348513054
|
|
|
NM_014363.6(SACS):c.2037CTC[1] (p.Ser682del)
|
rs764516069
|
|
|
NM_014363.6(SACS):c.2096C>T (p.Ser699Phe)
|
rs374680967
|
|
|
NM_014363.6(SACS):c.2182C>G (p.Arg728Gly)
|
rs752059006
|
|
|
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter)
|
rs752059006
|
|
|
NM_014363.6(SACS):c.2322A>G (p.Pro774=)
|
rs1869225328
|
|
|
NM_014363.6(SACS):c.247T>C (p.Leu83=)
|
rs1470292816
|
|
|
NM_014363.6(SACS):c.2599T>C (p.Tyr867His)
|
rs774682589
|
|
|
NM_014363.6(SACS):c.2881C>T (p.Arg961Ter)
|
rs1593133395
|
|
|
NM_014363.6(SACS):c.2903_2906del (p.Asp968fs)
|
rs1259615333
|
|
|
NM_014363.6(SACS):c.2904C>T (p.Asp968=)
|
rs149585868
|
|
|
NM_014363.6(SACS):c.2926C>T (p.Arg976Cys)
|
rs139993038
|
|
|
NM_014363.6(SACS):c.3070A>G (p.Lys1024Glu)
|
rs1869134973
|
|
|
NM_014363.6(SACS):c.3413A>G (p.Asn1138Ser)
|
rs1202128043
|
|
|
NM_014363.6(SACS):c.3429A>G (p.Gln1143=)
|
rs1869096503
|
|
|
NM_014363.6(SACS):c.3992A>G (p.His1331Arg)
|
rs1869039514
|
|
|
NM_014363.6(SACS):c.4145A>G (p.His1382Arg)
|
rs550057119
|
|
|
NM_014363.6(SACS):c.4299G>A (p.Trp1433Ter)
|
rs768209419
|
|
|
NM_014363.6(SACS):c.4522A>C (p.Asn1508His)
|
rs144653411
|
|
|
NM_014363.6(SACS):c.4606G>T (p.Val1536Leu)
|
rs764832688
|
|
|
NM_014363.6(SACS):c.4756_4760del (p.Asn1586fs)
|
rs765361868
|
|
|
NM_014363.6(SACS):c.4933C>T (p.Arg1645Ter)
|
rs770901638
|
|
|
NM_014363.6(SACS):c.5125C>T (p.Gln1709Ter)
|
rs1057517311
|
|
|
NM_014363.6(SACS):c.5151dup (p.Ser1718fs)
|
rs754439135
|
|
|
NM_014363.6(SACS):c.559G>T (p.Val187Phe)
|
rs1344578174
|
|
|
NM_014363.6(SACS):c.5711C>T (p.Thr1904Ile)
|
rs758570844
|
|
|
NM_014363.6(SACS):c.5785C>T (p.Arg1929Trp)
|
rs141019064
|
|
|
NM_014363.6(SACS):c.5858A>T (p.His1953Leu)
|
rs1428265468
|
|
|
NM_014363.6(SACS):c.6000_6004del (p.Arg2002fs)
|
rs773754134
|
|
|
NM_014363.6(SACS):c.6008A>T (p.Asp2003Val)
|
rs537408260
|
|
|
NM_014363.6(SACS):c.6119C>G (p.Ala2040Gly)
|
rs1234193312
|
|
|
NM_014363.6(SACS):c.6355C>T (p.Arg2119Ter)
|
rs766711286
|
|
|
NM_014363.6(SACS):c.6406A>T (p.Thr2136Ser)
|
rs1566066009
|
|
|
NM_014363.6(SACS):c.6436A>G (p.Ile2146Val)
|
rs1415663565
|
|
|
NM_014363.6(SACS):c.6632A>G (p.Gln2211Arg)
|
rs1044714793
|
|
|
NM_014363.6(SACS):c.6634A>G (p.Thr2212Ala)
|
rs556248979
|
|
|
NM_014363.6(SACS):c.6702T>A (p.Phe2234Leu)
|
rs774487714
|
|
|
NM_014363.6(SACS):c.6844T>C (p.Leu2282=)
|
rs1868678889
|
|
|
NM_014363.6(SACS):c.6859A>C (p.Lys2287Gln)
|
rs1397588851
|
|
|
NM_014363.6(SACS):c.7162_7163del (p.Thr2388fs)
|
rs1555251539
|
|
|
NM_014363.6(SACS):c.7276C>T (p.Arg2426Ter)
|
rs786204750
|
|
|
NM_014363.6(SACS):c.7812T>C (p.Ile2604=)
|
rs1593127031
|
|
|
NM_014363.6(SACS):c.8022T>C (p.Phe2674=)
|
rs34928783
|
|
|
NM_014363.6(SACS):c.8022T>G (p.Phe2674Leu)
|
rs34928783
|
|
|
NM_014363.6(SACS):c.8768T>C (p.Val2923Ala)
|
rs1566062448
|
|
|
NM_014363.6(SACS):c.8802C>T (p.Phe2934=)
|
rs1868452276
|
|
|
NM_014363.6(SACS):c.8873A>G (p.Lys2958Arg)
|
rs11839380
|
|
|
NM_014363.6(SACS):c.9286G>A (p.Ala3096Thr)
|
rs1085307569
|
|
|
NM_014363.6(SACS):c.9359G>T (p.Arg3120Leu)
|
rs569955570
|
|
|
NM_014363.6(SACS):c.972C>T (p.Asp324=)
|
rs546652936
|
|
|
NM_015474.4(SAMHD1):c.1081G>A (p.Asp361Asn)
|
rs546930607
|
|
|
NM_015474.4(SAMHD1):c.1096C>T (p.Arg366Cys)
|
rs138089277
|
|
|
NM_015474.4(SAMHD1):c.1174A>G (p.Lys392Glu)
|
rs1338752164
|
|
|
NM_015474.4(SAMHD1):c.11C>T (p.Ala4Val)
|
rs755673943
|
|
|
NM_015474.4(SAMHD1):c.1321G>C (p.Ala441Pro)
|
rs1311797673
|
|
|
NM_015474.4(SAMHD1):c.1384C>A (p.Pro462Thr)
|
rs1215408383
|
|
|
NM_015474.4(SAMHD1):c.1476del (p.Lys492fs)
|
rs768409471
|
|
|
NM_015474.4(SAMHD1):c.1565G>A (p.Cys522Tyr)
|
rs1046544176
|
|
|
NM_015474.4(SAMHD1):c.1590C>G (p.Ile530Met)
|
rs1354357820
|
|
|
NM_015474.4(SAMHD1):c.1725C>G (p.Asp575Glu)
|
rs1448113794
|
|
|
NM_015474.4(SAMHD1):c.364A>G (p.Ile122Val)
|
rs757367080
|
|
|
NM_015474.4(SAMHD1):c.400C>G (p.Arg134Gly)
|
rs752442185
|
|
|
NM_015474.4(SAMHD1):c.454G>C (p.Gly152Arg)
|
rs775844501
|
|
|
NM_015474.4(SAMHD1):c.494T>C (p.Phe165Ser)
|
rs765879627
|
|
|
NM_015474.4(SAMHD1):c.5_7dup (p.Gln2dup)
|
rs758547160
|
|
|
NM_015474.4(SAMHD1):c.680C>T (p.Pro227Leu)
|
rs753391551
|
|
|
NM_015474.4(SAMHD1):c.696+5G>A
|
rs1468637736
|
|
|
NM_015474.4(SAMHD1):c.792T>C (p.Asp264=)
|
rs774333580
|
|
|
NM_015702.3(MMADHC):c.311C>T (p.Ala104Val)
|
rs533388008
|
|
|
NM_015702.3(MMADHC):c.472C>T (p.Arg158Ter)
|
rs886039425
|
|
|
NM_015702.3(MMADHC):c.609+6T>C
|
rs1682704400
|
|
|
NM_015702.3(MMADHC):c.735T>G (p.Thr245=)
|
rs530553915
|
|
|
NM_015702.3(MMADHC):c.73G>T (p.Val25Phe)
|
rs549522925
|
|
|
NM_015702.3(MMADHC):c.846T>C (p.Asn282=)
|
rs559044965
|
|
|
NM_015702.3(MMADHC):c.869T>G (p.Met290Arg)
|
rs1401528755
|
|
|
NM_022124.6(CDH23):c.10036G>C (p.Glu3346Gln)
|
rs562525508
|
|
|
NM_022124.6(CDH23):c.10041C>A (p.Thr3347=)
|
rs538081113
|
|
|
NM_022124.6(CDH23):c.1117G>A (p.Val373Met)
|
rs573032828
|
|
|
NM_022124.6(CDH23):c.1141-3C>T
|
rs1862820418
|
|
|
NM_022124.6(CDH23):c.1270G>A (p.Val424Met)
|
rs2305207
|
|
|
NM_022124.6(CDH23):c.1342A>T (p.Ile448Phe)
|
rs760730664
|
|
|
NM_022124.6(CDH23):c.137C>A (p.Thr46Lys)
|
rs727504613
|
|
|
NM_022124.6(CDH23):c.1699G>T (p.Val567Leu)
|
rs377148854
|
|
|
NM_022124.6(CDH23):c.1936G>A (p.Ala646Thr)
|
rs1864696694
|
|
|
NM_022124.6(CDH23):c.2162T>A (p.Ile721Asn)
|
rs1458002238
|
|
|
NM_022124.6(CDH23):c.2182A>G (p.Ile728Val)
|
rs1865286018
|
|
|
NM_022124.6(CDH23):c.2193G>A (p.Thr731=)
|
rs397517315
|
|
|
NM_022124.6(CDH23):c.2193G>C (p.Thr731=)
|
rs397517315
|
|
|
NM_022124.6(CDH23):c.2206C>T (p.Arg736Ter)
|
rs1230303971
|
|
|
NM_022124.6(CDH23):c.2330C>A (p.Thr777Lys)
|
rs199709482
|
|
|
NM_022124.6(CDH23):c.2330C>T (p.Thr777Met)
|
rs199709482
|
|
|
NM_022124.6(CDH23):c.2425G>T (p.Glu809Ter)
|
rs1039517349
|
|
|
NM_022124.6(CDH23):c.2592C>G (p.Gly864=)
|
rs747891923
|
|
|
NM_022124.6(CDH23):c.2745C>G (p.Ile915Met)
|
rs183220886
|
|
|
NM_022124.6(CDH23):c.2751C>T (p.Leu917=)
|
rs369180032
|
|
|
NM_022124.6(CDH23):c.276A>G (p.Pro92=)
|
rs1589149152
|
|
|
NM_022124.6(CDH23):c.2805C>T (p.Arg935=)
|
rs1040584418
|
|
|
NM_022124.6(CDH23):c.2814C>T (p.Phe938=)
|
rs749588146
|
|
|
NM_022124.6(CDH23):c.2863C>A (p.Arg955Ser)
|
rs765094120
|
|
|
NM_022124.6(CDH23):c.2864G>A (p.Arg955His)
|
rs758293939
|
|
|
NM_022124.6(CDH23):c.2929T>C (p.Ser977Pro)
|
rs1865733199
|
|
|
NM_022124.6(CDH23):c.2952T>C (p.His984=)
|
rs1564744738
|
|
|
NM_022124.6(CDH23):c.2990C>T (p.Pro997Leu)
|
rs553541801
|
|
|
NM_022124.6(CDH23):c.3067G>A (p.Asp1023Asn)
|
rs1064796283
|
|
|
NM_022124.6(CDH23):c.3093C>T (p.Ser1031=)
|
rs1865817852
|
|
|
NM_022124.6(CDH23):c.3106+4C>T
|
rs1900497
|
|
|
NM_022124.6(CDH23):c.3133G>T (p.Val1045Leu)
|
rs377100683
|
|
|
NM_022124.6(CDH23):c.3162C>G (p.Thr1054=)
|
rs377259987
|
|
|
NM_022124.6(CDH23):c.3179G>A (p.Arg1060Gln)
|
rs536438868
|
|
|
NM_022124.6(CDH23):c.3241C>T (p.Arg1081Ter)
|
rs866435331
|
|
|
NM_022124.6(CDH23):c.3250G>T (p.Gly1084Cys)
|
rs1064794520
|
|
|
NM_022124.6(CDH23):c.3330C>G (p.Ser1110Arg)
|
rs371962929
|
|
|
NM_022124.6(CDH23):c.3351A>G (p.Glu1117=)
|
rs1866031274
|
|
|
NM_022124.6(CDH23):c.3468T>G (p.Asn1156Lys)
|
rs751046027
|
|
|
NM_022124.6(CDH23):c.3508C>T (p.Arg1170Trp)
|
rs199866703
|
|
|
NM_022124.6(CDH23):c.3523G>T (p.Val1175Leu)
|
rs763379895
|
|
|
NM_022124.6(CDH23):c.367G>A (p.Gly123Arg)
|
rs727504513
|
|
|
NM_022124.6(CDH23):c.3688G>A (p.Val1230Met)
|
rs377358096
|
|
|
NM_022124.6(CDH23):c.3712T>G (p.Ser1238Ala)
|
rs764805425
|
|
|
NM_022124.6(CDH23):c.3972G>A (p.Glu1324=)
|
rs1839415432
|
|
|
NM_022124.6(CDH23):c.4004T>C (p.Val1335Ala)
|
rs1364542092
|
|
|
NM_022124.6(CDH23):c.4021G>A (p.Asp1341Asn)
|
rs121908351
|
|
|
NM_022124.6(CDH23):c.4041G>C (p.Thr1347=)
|
rs373634236
|
|
|
NM_022124.6(CDH23):c.4190A>G (p.Lys1397Arg)
|
rs1438134577
|
|
|
NM_022124.6(CDH23):c.437C>T (p.Pro146Leu)
|
rs765103490
|
|
|
NM_022124.6(CDH23):c.4390G>T (p.Ala1464Ser)
|
rs756674688
|
|
|
NM_022124.6(CDH23):c.4391C>A (p.Ala1464Glu)
|
rs374362883
|
|
|
NM_022124.6(CDH23):c.4418A>G (p.Asn1473Ser)
|
rs1653650223
|
|
|
NM_022124.6(CDH23):c.4435G>A (p.Val1479Met)
|
rs1839682678
|
|
|
NM_022124.6(CDH23):c.4488G>C (p.Gln1496His)
|
rs121908347
|
|
|
NM_022124.6(CDH23):c.4543G>T (p.Val1515Leu)
|
rs758050912
|
|
|
NM_022124.6(CDH23):c.4617+5G>C
|
rs772189237
|
|
|
NM_022124.6(CDH23):c.4759_4766del (p.Thr1587fs)
|
rs759981467
|
|
|
NM_022124.6(CDH23):c.4829G>T (p.Gly1610Val)
|
rs1839745979
|
|
|
NM_022124.6(CDH23):c.4937G>A (p.Gly1646Asp)
|
rs759019656
|
|
|
NM_022124.6(CDH23):c.4978C>T (p.Leu1660=)
|
rs763303805
|
|
|
NM_022124.6(CDH23):c.5004C>T (p.Gly1668=)
|
rs1840853887
|
|
|
NM_022124.6(CDH23):c.5026G>T (p.Ala1676Ser)
|
rs56043301
|
|
|
NM_022124.6(CDH23):c.5045C>A (p.Thr1682Asn)
|
rs1840855231
|
|
|
NM_022124.6(CDH23):c.5051G>A (p.Arg1684His)
|
rs111033475
|
|
|
NM_022124.6(CDH23):c.5116C>T (p.Arg1706Cys)
|
rs759876454
|
|
|
NM_022124.6(CDH23):c.5130C>A (p.Ile1710=)
|
rs111033487
|
|
|
NM_022124.6(CDH23):c.5385T>C (p.Ser1795=)
|
rs1841037687
|
|
|
NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu)
|
rs74145660
|
|
|
NM_022124.6(CDH23):c.5477G>A (p.Arg1826Gln)
|
rs780097768
|
|
|
NM_022124.6(CDH23):c.5668A>T (p.Ile1890Phe)
|
rs1841063934
|
|
|
NM_022124.6(CDH23):c.570C>G (p.Ile190Met)
|
rs1236841357
|
|
|
NM_022124.6(CDH23):c.586G>C (p.Glu196Gln)
|
rs753985914
|
|
|
NM_022124.6(CDH23):c.5924-1G>A
|
rs1841212177
|
|
|
NM_022124.6(CDH23):c.6140G>A (p.Gly2047Glu)
|
rs1841241811
|
|
|
NM_022124.6(CDH23):c.6169A>G (p.Ile2057Val)
|
rs573057228
|
|
|
NM_022124.6(CDH23):c.625-10G>A
|
rs772135580
|
|
|
NM_022124.6(CDH23):c.6322A>G (p.Ile2108Val)
|
rs1453941490
|
|
|
NM_022124.6(CDH23):c.6333G>A (p.Gly2111=)
|
rs368155422
|
|
|
NM_022124.6(CDH23):c.6375C>A (p.Ile2125=)
|
rs16929354
|
|
|
NM_022124.6(CDH23):c.6440C>A (p.Thr2147Asn)
|
rs769241730
|
|
|
NM_022124.6(CDH23):c.6604G>A (p.Asp2202Asn)
|
rs121908349
|
|
|
NM_022124.6(CDH23):c.6654C>A (p.Asp2218Glu)
|
rs537236734
|
|
|
NM_022124.6(CDH23):c.6718G>A (p.Val2240Ile)
|
rs727504694
|
|
|
NM_022124.6(CDH23):c.6968del (p.Pro2323fs)
|
rs397517350
|
|
|
NM_022124.6(CDH23):c.7022C>G (p.Pro2341Arg)
|
rs1841468965
|
|
|
NM_022124.6(CDH23):c.7060G>T (p.Val2354Phe)
|
rs1589428432
|
|
|
NM_022124.6(CDH23):c.7113C>T (p.Thr2371=)
|
rs747544364
|
|
|
NM_022124.6(CDH23):c.7263C>A (p.Ile2421=)
|
rs1841497737
|
|
|
NM_022124.6(CDH23):c.7581G>A (p.Ser2527=)
|
rs751607601
|
|
|
NM_022124.6(CDH23):c.7616G>C (p.Gly2539Ala)
|
rs1841602000
|
|
|
NM_022124.6(CDH23):c.7651C>G (p.Pro2551Ala)
|
rs548188123
|
|
|
NM_022124.6(CDH23):c.7660+1G>T
|
rs1057520662
|
|
|
NM_022124.6(CDH23):c.778G>T (p.Ala260Ser)
|
rs373294595
|
|
|
NM_022124.6(CDH23):c.7807G>A (p.Asp2603Asn)
|
rs780640943
|
|
|
NM_022124.6(CDH23):c.7849G>C (p.Gly2617Arg)
|
rs369379727
|
|
|
NM_022124.6(CDH23):c.7873-4A>G
|
rs1047300881
|
|
|
NM_022124.6(CDH23):c.7987TTC[1] (p.Phe2664del)
|
rs774559018
|
|
|
NM_022124.6(CDH23):c.8064+1G>A
|
rs1474524543
|
|
|
NM_022124.6(CDH23):c.8121G>T (p.Pro2707=)
|
rs377535432
|
|
|
NM_022124.6(CDH23):c.8154C>T (p.Asn2718=)
|
rs1841717352
|
|
|
NM_022124.6(CDH23):c.8178A>T (p.Pro2726=)
|
rs1208919337
|
|
|
NM_022124.6(CDH23):c.8225C>G (p.Pro2742Arg)
|
rs758360283
|
|
|
NM_022124.6(CDH23):c.8228G>A (p.Arg2743His)
|
rs1269272160
|
|
|
NM_022124.6(CDH23):c.8229C>T (p.Arg2743=)
|
rs372996083
|
|
|
NM_022124.6(CDH23):c.8257G>T (p.Ala2753Ser)
|
rs397517356
|
|
|
NM_022124.6(CDH23):c.8282A>G (p.Asn2761Ser)
|
rs779835256
|
|
|
NM_022124.6(CDH23):c.8283C>G (p.Asn2761Lys)
|
rs397517357
|
|
|
NM_022124.6(CDH23):c.8308+4G>C
|
rs751021859
|
|
|
NM_022124.6(CDH23):c.8322GAA[1] (p.Lys2775del)
|
rs876657758
|
|
|
NM_022124.6(CDH23):c.8479C>T (p.Leu2827Phe)
|
rs1841774970
|
|
|
NM_022124.6(CDH23):c.8498G>A (p.Arg2833His)
|
rs534575559
|
|
|
NM_022124.6(CDH23):c.8570C>T (p.Thr2857Ile)
|
rs1341806761
|
|
|
NM_022124.6(CDH23):c.857T>C (p.Leu286Pro)
|
rs1861132929
|
|
|
NM_022124.6(CDH23):c.8710G>A (p.Val2904Ile)
|
rs746121407
|
|
|
NM_022124.6(CDH23):c.8869G>A (p.Val2957Ile)
|
rs369587122
|
|
|
NM_022124.6(CDH23):c.8G>T (p.Arg3Leu)
|
rs397517363
|
|
|
NM_022124.6(CDH23):c.9014C>T (p.Ala3005Val)
|
rs188966938
|
|
|
NM_022124.6(CDH23):c.901C>A (p.Arg301=)
|
rs397517364
|
|
|
NM_022124.6(CDH23):c.9137A>G (p.Asn3046Ser)
|
rs1841918209
|
|
|
NM_022124.6(CDH23):c.9283A>G (p.Lys3095Glu)
|
rs876657760
|
|
|
NM_022124.6(CDH23):c.9292C>T (p.Leu3098Phe)
|
rs746788999
|
|
|
NM_022124.6(CDH23):c.9336C>A (p.Ile3112=)
|
rs1841945407
|
|
|
NM_022124.6(CDH23):c.9437C>A (p.Ala3146Glu)
|
rs779480321
|
|
|
NM_022124.6(CDH23):c.9458C>T (p.Pro3153Leu)
|
rs762930029
|
|
|
NM_022124.6(CDH23):c.9510+19_9510+25del
|
rs149704197
|
|
|
NM_022124.6(CDH23):c.9538G>A (p.Val3180Ile)
|
rs557490269
|
|
|
NM_022124.6(CDH23):c.9629_9632del (p.Ile3210fs)
|
rs397517367
|
|
|
NM_022124.6(CDH23):c.9726del (p.Ser3243fs)
|
rs767176528
|
|
|
NM_022124.6(CDH23):c.9885C>T (p.Thr3295=)
|
rs1382062973
|
|
|
NM_022124.6(CDH23):c.995C>T (p.Thr332Met)
|
rs376301184
|
|
|
NM_022124.6(CDH23):c.9973C>T (p.Arg3325Cys)
|
rs766510687
|
|
|
NM_024301.5(FKRP):c.1000_1017dup (p.Glu334_Arg339dup)
|
rs1599938256
|
|
|
NM_024301.5(FKRP):c.1051G>A (p.Ala351Thr)
|
rs982005875
|
|
|
NM_024301.5(FKRP):c.1136G>C (p.Arg379Pro)
|
rs140217866
|
|
|
NM_024301.5(FKRP):c.1141dup (p.Ala381fs)
|
rs754403441
|
|
|
NM_024301.5(FKRP):c.1195G>A (p.Glu399Lys)
|
rs1230638385
|
|
|
NM_024301.5(FKRP):c.122G>T (p.Arg41Leu)
|
rs201497063
|
|
|
NM_024301.5(FKRP):c.1307G>A (p.Arg436Gln)
|
rs764311774
|
|
|
NM_024301.5(FKRP):c.1368C>T (p.Gly456=)
|
rs1599940206
|
|
|
NM_024301.5(FKRP):c.13C>T (p.Arg5Cys)
|
rs1060502108
|
|
|
NM_024301.5(FKRP):c.1429G>A (p.Val477Ile)
|
rs1424035060
|
|
|
NM_024301.5(FKRP):c.158_162dup (p.Glu55fs)
|
rs1290836394
|
|
|
NM_024301.5(FKRP):c.169G>A (p.Glu57Lys)
|
rs773024545
|
|
|
NM_024301.5(FKRP):c.185C>T (p.Ala62Val)
|
rs1448177835
|
|
|
NM_024301.5(FKRP):c.206_208del (p.Ser69del)
|
rs2054893955
|
|
|
NM_024301.5(FKRP):c.236TGG[2] (p.Val81del)
|
rs2054894857
|
|
|
NM_024301.5(FKRP):c.305C>A (p.Ala102Glu)
|
rs1473327480
|
|
|
NM_024301.5(FKRP):c.319G>T (p.Ala107Ser)
|
rs750679682
|
|
|
NM_024301.5(FKRP):c.37G>A (p.Ala13Thr)
|
rs768376273
|
|
|
NM_024301.5(FKRP):c.394G>C (p.Gly132Arg)
|
rs900304726
|
|
|
NM_024301.5(FKRP):c.491A>G (p.Asn164Ser)
|
rs1008630400
|
|
|
NM_024301.5(FKRP):c.527G>A (p.Arg176Gln)
|
rs755316345
|
|
|
NM_024301.5(FKRP):c.545A>C (p.Tyr182Ser)
|
rs543163491
|
|
|
NM_024301.5(FKRP):c.561C>G (p.Ala187=)
|
rs771770302
|
|
|
NM_024301.5(FKRP):c.745G>A (p.Ala249Thr)
|
rs757955092
|
|
|
NM_024301.5(FKRP):c.750G>A (p.Thr250=)
|
rs1390038437
|
|
|
NM_024301.5(FKRP):c.777C>T (p.Arg259=)
|
rs766086486
|
|
|
NM_024301.5(FKRP):c.780G>C (p.Glu260Asp)
|
rs1414659732
|
|
|
NM_024301.5(FKRP):c.83A>G (p.Gln28Arg)
|
rs756205019
|
|
|
NM_024301.5(FKRP):c.849G>A (p.Arg283=)
|
rs2054920441
|
|
|
NM_024301.5(FKRP):c.946C>G (p.Pro316Ala)
|
rs28937901
|
|
|
NM_024301.5(FKRP):c.948del (p.Cys317fs)
|
rs748798133
|
|
|
NM_024301.5(FKRP):c.979C>G (p.Arg327Gly)
|
rs867877678
|
|
|
NM_024649.5(BBS1):c.*13_*21dup
|
rs750165500
|
|
|
NM_024649.5(BBS1):c.1006C>G (p.Leu336Val)
|
rs765494351
|
|
|
NM_024649.5(BBS1):c.1088T>C (p.Leu363Pro)
|
rs540217506
|
|
|
NM_024649.5(BBS1):c.1138C>T (p.Arg380Trp)
|
rs752299442
|
|
|
NM_024649.5(BBS1):c.1177C>G (p.Arg393Gly)
|
rs1160669210
|
|
|
NM_024649.5(BBS1):c.1181-3T>G
|
rs1856511506
|
|
|
NM_024649.5(BBS1):c.1264G>A (p.Ala422Thr)
|
rs1346584719
|
|
|
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter)
|
rs768443448
|
|
|
NM_024649.5(BBS1):c.1378C>T (p.Arg460Cys)
|
rs745460551
|
|
|
NM_024649.5(BBS1):c.1439C>A (p.Thr480Lys)
|
rs374706769
|
|
|
NM_024649.5(BBS1):c.1489C>A (p.Pro497Thr)
|
rs1194392195
|
|
|
NM_024649.5(BBS1):c.1595G>T (p.Arg532Leu)
|
rs142648652
|
|
|
NM_024649.5(BBS1):c.1628G>A (p.Gly543Glu)
|
rs778941006
|
|
|
NM_024649.5(BBS1):c.1709G>A (p.Arg570Gln)
|
rs1856803176
|
|
|
NM_024649.5(BBS1):c.198C>T (p.Pro66=)
|
rs1856007679
|
|
|
NM_024649.5(BBS1):c.223_224del (p.Leu75fs)
|
rs1057516451
|
|
|
NM_024649.5(BBS1):c.316C>G (p.Leu106Val)
|
rs137853913
|
|
|
NM_024649.5(BBS1):c.57C>G (p.Ala19=)
|
rs755026677
|
|
|
NM_024649.5(BBS1):c.592-7_592-5del
|
rs774944051
|
|
|
NM_024649.5(BBS1):c.634G>A (p.Asp212Asn)
|
rs2134780459
|
|
|
NM_024649.5(BBS1):c.77C>T (p.Ala26Val)
|
rs866558676
|
|
|
NM_024649.5(BBS1):c.831-2A>G
|
rs1057517332
|
|
|
NM_024649.5(BBS1):c.910G>T (p.Val304Leu)
|
rs1228755309
|
|
|
NM_024685.4(BBS10):c.1010AAG[1] (p.Glu338del)
|
rs750611000
|
|
|
NM_024685.4(BBS10):c.106G>T (p.Val36Phe)
|
rs896544129
|
|
|
NM_024685.4(BBS10):c.1074G>A (p.Ser358=)
|
rs551803123
|
|
|
NM_024685.4(BBS10):c.1091del (p.Asn364fs)
|
rs727503818
|
|
|
NM_024685.4(BBS10):c.1092C>T (p.Asn364=)
|
rs1951763479
|
|
|
NM_024685.4(BBS10):c.1126C>G (p.Leu376Val)
|
rs11109474
|
|
|
NM_024685.4(BBS10):c.1144G>C (p.Val382Leu)
|
rs775492103
|
|
|
NM_024685.4(BBS10):c.1158G>A (p.Leu386=)
|
rs138702315
|
|
|
NM_024685.4(BBS10):c.1181C>A (p.Pro394Gln)
|
rs1951762690
|
|
|
NM_024685.4(BBS10):c.1185C>G (p.His395Gln)
|
rs863224793
|
|
|
NM_024685.4(BBS10):c.1228C>T (p.His410Tyr)
|
rs1951762170
|
|
|
NM_024685.4(BBS10):c.1400G>A (p.Arg467Lys)
|
rs1022090476
|
|
|
NM_024685.4(BBS10):c.1418T>A (p.Val473Asp)
|
rs763473990
|
|
|
NM_024685.4(BBS10):c.1457A>T (p.Tyr486Phe)
|
rs1429011304
|
|
|
NM_024685.4(BBS10):c.1495G>T (p.Glu499Ter)
|
rs898539189
|
|
|
NM_024685.4(BBS10):c.1530A>G (p.Thr510=)
|
rs1951758841
|
|
|
NM_024685.4(BBS10):c.1602T>G (p.Thr534=)
|
rs750402316
|
|
|
NM_024685.4(BBS10):c.1640C>A (p.Ala547Asp)
|
rs770880993
|
|
|
NM_024685.4(BBS10):c.1676dup (p.Tyr559Ter)
|
rs1565809478
|
|
|
NM_024685.4(BBS10):c.1677C>A (p.Tyr559Ter)
|
rs375413604
|
|
|
NM_024685.4(BBS10):c.1684T>C (p.Leu562=)
|
rs111773727
|
|
|
NM_024685.4(BBS10):c.1767C>A (p.Tyr589Ter)
|
rs1565809409
|
|
|
NM_024685.4(BBS10):c.1856A>G (p.Lys619Arg)
|
rs1951755649
|
|
|
NM_024685.4(BBS10):c.1865A>G (p.His622Arg)
|
rs1453149575
|
|
|
NM_024685.4(BBS10):c.209A>G (p.Asp70Gly)
|
rs529208223
|
|
|
NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer)
|
rs775950661
|
|
|
NM_024685.4(BBS10):c.2157A>G (p.Ser719=)
|
rs1951752945
|
|
|
NM_024685.4(BBS10):c.2167C>T (p.Leu723=)
|
rs1003705267
|
|
|
NM_024685.4(BBS10):c.271dup (p.Cys91fs)
|
rs549625604
|
|
|
NM_024685.4(BBS10):c.397C>T (p.Leu133Phe)
|
rs750446869
|
|
|
NM_024685.4(BBS10):c.39_46del (p.Ala14fs)
|
rs1555202806
|
|
|
NM_024685.4(BBS10):c.55G>C (p.Glu19Gln)
|
rs1001512051
|
|
|
NM_024685.4(BBS10):c.728_731del (p.Lys243fs)
|
rs786204671
|
|
|
NM_024685.4(BBS10):c.815G>C (p.Gly272Ala)
|
rs781723681
|
|
|
NM_024685.4(BBS10):c.909_912del (p.Ser303fs)
|
rs780059308
|
|
|
NM_025114.4(CEP290):c.1142A>G (p.Asn381Ser)
|
rs1295338042
|
|
|
NM_025114.4(CEP290):c.1189+1G>A
|
rs2039659434
|
|
|
NM_025114.4(CEP290):c.1219_1220del (p.Met407fs)
|
rs386834148
|
|
|
NM_025114.4(CEP290):c.1333C>G (p.Leu445Val)
|
rs2039364974
|
|
|
NM_025114.4(CEP290):c.1349A>G (p.Asp450Gly)
|
rs777867610
|
|
|
NM_025114.4(CEP290):c.1419_1423del (p.Ile474fs)
|
rs771266705
|
|
|
NM_025114.4(CEP290):c.1516C>T (p.Arg506Cys)
|
rs368427967
|
|
|
NM_025114.4(CEP290):c.1522+8A>G
|
rs1410927153
|
|
|
NM_025114.4(CEP290):c.1523-1G>T
|
rs1192112844
|
|
|
NM_025114.4(CEP290):c.1589A>G (p.Gln530Arg)
|
rs1390141039
|
|
|
NM_025114.4(CEP290):c.1624-5T>G
|
rs142742071
|
|
|
NM_025114.4(CEP290):c.164_167del (p.Thr55fs)
|
rs758550675
|
|
|
NM_025114.4(CEP290):c.1666del (p.Ile556fs)
|
rs727503855
|
|
|
NM_025114.4(CEP290):c.1666dup (p.Ile556fs)
|
rs727503855
|
|
|
NM_025114.4(CEP290):c.1747A>G (p.Ile583Val)
|
rs1459958084
|
|
|
NM_025114.4(CEP290):c.1789T>C (p.Leu597=)
|
rs2039096949
|
|
|
NM_025114.4(CEP290):c.180+1G>A
|
rs758593134
|
|
|
NM_025114.4(CEP290):c.1860_1863del (p.Arg621fs)
|
rs766608755
|
|
|
NM_025114.4(CEP290):c.1864_1865del (p.Asp622fs)
|
rs1033594764
|
|
|
NM_025114.4(CEP290):c.188C>T (p.Ala63Val)
|
rs769705891
|
|
|
NM_025114.4(CEP290):c.2033G>T (p.Ser678Ile)
|
rs2038915965
|
|
|
NM_025114.4(CEP290):c.2052+1_2052+2del
|
rs747835249
|
|
|
NM_025114.4(CEP290):c.2053G>A (p.Ala685Thr)
|
rs2038714969
|
|
|
NM_025114.4(CEP290):c.2090C>G (p.Ala697Gly)
|
rs200454865
|
|
|
NM_025114.4(CEP290):c.2090C>T (p.Ala697Val)
|
rs200454865
|
|
|
NM_025114.4(CEP290):c.2119_2123dup (p.Thr709fs)
|
rs62640580
|
|
|
NM_025114.4(CEP290):c.2191C>A (p.Gln731Lys)
|
rs767250881
|
|
|
NM_025114.4(CEP290):c.2217+3G>A
|
rs765291878
|
|
|
NM_025114.4(CEP290):c.2217+3G>C
|
rs765291878
|
|
|
NM_025114.4(CEP290):c.2245C>T (p.Leu749Phe)
|
rs2038674474
|
|
|
NM_025114.4(CEP290):c.2252G>A (p.Arg751Gln)
|
rs1360220092
|
|
|
NM_025114.4(CEP290):c.2268A>G (p.Ser756=)
|
rs2468255
|
|
|
NM_025114.4(CEP290):c.2279T>C (p.Phe760Ser)
|
rs1488946278
|
|
|
NM_025114.4(CEP290):c.2317A>T (p.Ser773Cys)
|
rs748976722
|
|
|
NM_025114.4(CEP290):c.231A>G (p.Gly77=)
|
rs753852812
|
|
|
NM_025114.4(CEP290):c.2326A>G (p.Ile776Val)
|
rs2038667289
|
|
|
NM_025114.4(CEP290):c.2379_2381del (p.Asn793del)
|
rs2038499476
|
|
|
NM_025114.4(CEP290):c.2390del (p.Lys797fs)
|
rs781670422
|
|
|
NM_025114.4(CEP290):c.2400T>G (p.Asn800Lys)
|
rs2038497441
|
|
|
NM_025114.4(CEP290):c.2440G>T (p.Val814Leu)
|
rs955251811
|
|
|
NM_025114.4(CEP290):c.2484-18GTTTT[4]
|
rs745522483
|
|
|
NM_025114.4(CEP290):c.2670A>C (p.Gln890His)
|
rs2038316964
|
|
|
NM_025114.4(CEP290):c.2697A>G (p.Gln899=)
|
rs770769486
|
|
|
NM_025114.4(CEP290):c.2928C>T (p.Tyr976=)
|
rs1393060819
|
|
|
NM_025114.4(CEP290):c.2946A>T (p.Lys982Asn)
|
rs2037999495
|
|
|
NM_025114.4(CEP290):c.2951A>T (p.Asn984Ile)
|
rs2037998907
|
|
|
NM_025114.4(CEP290):c.3040C>T (p.Leu1014=)
|
rs2037475960
|
|
|
NM_025114.4(CEP290):c.3175dup (p.Ile1059fs)
|
rs62640570
|
|
|
NM_025114.4(CEP290):c.3181A>G (p.Met1061Val)
|
rs1201486566
|
|
|
NM_025114.4(CEP290):c.3181_3182del (p.Met1061fs)
|
rs878853362
|
|
|
NM_025114.4(CEP290):c.3215G>A (p.Arg1072Gln)
|
rs1298561837
|
|
|
NM_025114.4(CEP290):c.3239A>G (p.Tyr1080Cys)
|
rs902039539
|
|
|
NM_025114.4(CEP290):c.3250C>G (p.Arg1084Gly)
|
rs372918770
|
|
|
NM_025114.4(CEP290):c.3250C>T (p.Arg1084Trp)
|
rs372918770
|
|
|
NM_025114.4(CEP290):c.328A>G (p.Thr110Ala)
|
rs750018041
|
|
|
NM_025114.4(CEP290):c.3321C>T (p.Ile1107=)
|
rs2037149786
|
|
|
NM_025114.4(CEP290):c.3418G>A (p.Glu1140Lys)
|
rs766095901
|
|
|
NM_025114.4(CEP290):c.3481A>T (p.Ile1161Phe)
|
rs2036979298
|
|
|
NM_025114.4(CEP290):c.3574-9del
|
rs10717563
|
|
|
NM_025114.4(CEP290):c.3605A>G (p.Lys1202Arg)
|
rs375065584
|
|
|
NM_025114.4(CEP290):c.3675A>C (p.Thr1225=)
|
rs2036843900
|
|
|
NM_025114.4(CEP290):c.3682C>G (p.Leu1228Val)
|
rs1282211647
|
|
|
NM_025114.4(CEP290):c.3814C>T (p.Arg1272Ter)
|
rs62640581
|
|
|
NM_025114.4(CEP290):c.384_387del (p.Asp128fs)
|
rs386834157
|
|
|
NM_025114.4(CEP290):c.3904C>T (p.Gln1302Ter)
|
rs587783016
|
|
|
NM_025114.4(CEP290):c.3905A>C (p.Gln1302Pro)
|
rs1064794650
|
|
|
NM_025114.4(CEP290):c.3948C>T (p.Asn1316=)
|
rs1361449401
|
|
|
NM_025114.4(CEP290):c.3950A>C (p.Lys1317Thr)
|
rs778137534
|
|
|
NM_025114.4(CEP290):c.3980G>A (p.Gly1327Asp)
|
rs959651787
|
|
|
NM_025114.4(CEP290):c.4087C>T (p.Arg1363Trp)
|
rs181121175
|
|
|
NM_025114.4(CEP290):c.4090G>T (p.Glu1364Ter)
|
rs779645669
|
|
|
NM_025114.4(CEP290):c.4097T>G (p.Val1366Gly)
|
rs1270381017
|
|
|
NM_025114.4(CEP290):c.4366G>A (p.Ala1456Thr)
|
rs375111436
|
|
|
NM_025114.4(CEP290):c.442-11del
|
rs199511358
|
|
|
NM_025114.4(CEP290):c.442-22dup
|
rs199511358
|
|
|
NM_025114.4(CEP290):c.4452_4455del (p.Lys1484fs)
|
rs780624853
|
|
|
NM_025114.4(CEP290):c.4578G>A (p.Glu1526=)
|
rs775294433
|
|
|
NM_025114.4(CEP290):c.4655AAG[2] (p.Glu1554del)
|
rs757309583
|
|
|
NM_025114.4(CEP290):c.4682G>A (p.Arg1561His)
|
rs371157150
|
|
|
NM_025114.4(CEP290):c.4962_4963del (p.Glu1656fs)
|
rs764309755
|
|
|
NM_025114.4(CEP290):c.4966_4967del (p.Glu1656fs)
|
rs756302731
|
|
|
NM_025114.4(CEP290):c.502C>T (p.Arg168Cys)
|
rs760856790
|
|
|
NM_025114.4(CEP290):c.5145T>G (p.Asn1715Lys)
|
rs568619750
|
|
|
NM_025114.4(CEP290):c.5226+5_5226+8del
|
rs1353301232
|
|
|
NM_025114.4(CEP290):c.5228C>T (p.Ala1743Val)
|
rs951910051
|
|
|
NM_025114.4(CEP290):c.5366C>T (p.Thr1789Ile)
|
rs2035901966
|
|
|
NM_025114.4(CEP290):c.5391T>C (p.Asn1797=)
|
rs1034544936
|
|
|
NM_025114.4(CEP290):c.5434_5435del (p.Glu1812fs)
|
rs757609119
|
|
|
NM_025114.4(CEP290):c.5445_5448del (p.Thr1816fs)
|
rs749331348
|
|
|
NM_025114.4(CEP290):c.5493del (p.Ala1832fs)
|
rs386834158
|
|
|
NM_025114.4(CEP290):c.5515_5518del (p.Glu1839fs)
|
rs281865187
|
|
|
NM_025114.4(CEP290):c.5577_5579del (p.Ser1859_Gly1860delinsArg)
|
rs2035881706
|
|
|
NM_025114.4(CEP290):c.5580del (p.Leu1861fs)
|
rs1592807018
|
|
|
NM_025114.4(CEP290):c.5709+1G>A
|
rs759850328
|
|
|
NM_025114.4(CEP290):c.5742A>C (p.Glu1914Asp)
|
rs2035405223
|
|
|
NM_025114.4(CEP290):c.5777G>A (p.Arg1926Gln)
|
rs778030031
|
|
|
NM_025114.4(CEP290):c.5813_5817del (p.Thr1938fs)
|
rs62638180
|
|
|
NM_025114.4(CEP290):c.5850del (p.Phe1950fs)
|
rs386834159
|
|
|
NM_025114.4(CEP290):c.5852C>G (p.Ala1951Gly)
|
rs2035394009
|
|
|
NM_025114.4(CEP290):c.58C>T (p.Arg20Cys)
|
rs779867970
|
|
|
NM_025114.4(CEP290):c.5972A>C (p.Lys1991Thr)
|
rs1178644600
|
|
|
NM_025114.4(CEP290):c.5999T>C (p.Ile2000Thr)
|
rs1592782496
|
|
|
NM_025114.4(CEP290):c.6001T>C (p.Leu2001=)
|
rs112738303
|
|
|
NM_025114.4(CEP290):c.6037T>G (p.Ser2013Ala)
|
rs2136913105
|
|
|
NM_025114.4(CEP290):c.6135A>G (p.Ser2045=)
|
rs2035114777
|
|
|
NM_025114.4(CEP290):c.6165T>C (p.Cys2055=)
|
rs2034700190
|
|
|
NM_025114.4(CEP290):c.6218T>C (p.Ile2073Thr)
|
rs2034695558
|
|
|
NM_025114.4(CEP290):c.623T>G (p.Leu208Trp)
|
rs2039987503
|
|
|
NM_025114.4(CEP290):c.6354A>T (p.Arg2118Ser)
|
rs762397066
|
|
|
NM_025114.4(CEP290):c.6489G>A (p.Met2163Ile)
|
rs1017249180
|
|
|
NM_025114.4(CEP290):c.6548A>C (p.His2183Pro)
|
rs2034340081
|
|
|
NM_025114.4(CEP290):c.6573C>G (p.His2191Gln)
|
rs1316821873
|
|
|
NM_025114.4(CEP290):c.6604del (p.Ile2202fs)
|
rs758329611
|
|
|
NM_025114.4(CEP290):c.6869dup (p.Asn2290fs)
|
rs587783017
|
|
|
NM_025114.4(CEP290):c.6893A>G (p.Gln2298Arg)
|
rs1337960015
|
|
|
NM_025114.4(CEP290):c.6960+5_6960+8del
|
rs2033930168
|
|
|
NM_025114.4(CEP290):c.7124T>C (p.Ile2375Thr)
|
rs540340404
|
|
|
NM_025114.4(CEP290):c.7133C>G (p.Ala2378Gly)
|
rs1565777729
|
|
|
NM_025114.4(CEP290):c.7209+7T>C
|
rs745813087
|
|
|
NM_025114.4(CEP290):c.7328_7332del (p.Glu2443fs)
|
rs747138345
|
|
|
NM_025114.4(CEP290):c.7328_7332dup (p.Val2445fs)
|
rs747138345
|
|
|
NM_025114.4(CEP290):c.7341dup (p.Leu2448fs)
|
rs281865189
|
|
|
NM_025114.4(CEP290):c.7381GCT[1] (p.Ala2462del)
|
rs1345322609
|
|
|
NM_025114.4(CEP290):c.7392_7393insCA (p.Glu2465fs)
|
rs757255407
|
|
|
NM_025114.4(CEP290):c.7397T>C (p.Phe2466Ser)
|
rs1159836808
|
|
|
NM_025114.4(CEP290):c.7405GAA[2] (p.Glu2471del)
|
rs777398895
|
|
|
NM_025114.4(CEP290):c.753G>T (p.Glu251Asp)
|
rs2039957080
|
|
|
NM_025114.4(CEP290):c.790G>T (p.Val264Leu)
|
rs1242440672
|
|
|
NM_025114.4(CEP290):c.835G>T (p.Asp279Tyr)
|
rs796540607
|
|
|
NM_025114.4(CEP290):c.916G>A (p.Val306Ile)
|
rs558949569
|
|
|
NM_025114.4(CEP290):c.92C>T (p.Ser31Phe)
|
rs1378106199
|
|
|
NM_025114.4(CEP290):c.984G>C (p.Gln328His)
|
rs776256270
|
|
|
NM_025216.3(WNT10A):c.1003G>A (p.Asp335Asn)
|
rs545956598
|
|
|
NM_025216.3(WNT10A):c.1124T>G (p.Met375Arg)
|
rs773598047
|
|
|
NM_025216.3(WNT10A):c.1146C>T (p.Asn382=)
|
rs759671927
|
|
|
NM_025216.3(WNT10A):c.433G>A (p.Val145Met)
|
rs543063101
|
|
|
NM_025216.3(WNT10A):c.4G>A (p.Gly2Ser)
|
rs533605522
|
|
|
NM_025216.3(WNT10A):c.667C>T (p.Arg223Cys)
|
rs149245953
|
|
|
NM_025216.3(WNT10A):c.796G>A (p.Gly266Ser)
|
rs778752861
|
|
|
NM_025216.3(WNT10A):c.801G>A (p.Thr267=)
|
rs553058408
|
|
|
NM_025216.3(WNT10A):c.841C>A (p.Pro281Thr)
|
rs541715493
|
|
|
NM_025216.3(WNT10A):c.958C>T (p.Pro320Ser)
|
rs1944673587
|
|
|
NM_025216.3(WNT10A):c.987_989dup (p.Arg330dup)
|
rs1416466883
|
|
|
NM_031885.5(BBS2):c.1015C>T (p.Arg339Ter)
|
rs193922710
|
|
|
NM_031885.5(BBS2):c.142C>T (p.Arg48Trp)
|
rs1030249829
|
|
|
NM_031885.5(BBS2):c.1454C>T (p.Ala485Val)
|
rs376115616
|
|
|
NM_031885.5(BBS2):c.1517G>A (p.Arg506Gln)
|
rs1278932190
|
|
|
NM_031885.5(BBS2):c.1624G>T (p.Gly542Cys)
|
rs556899786
|
|
|
NM_031885.5(BBS2):c.1705C>T (p.Gln569Ter)
|
rs1555521501
|
|
|
NM_031885.5(BBS2):c.1816G>T (p.Val606Leu)
|
rs930659537
|
|
|
NM_031885.5(BBS2):c.2084T>C (p.Ile695Thr)
|
rs1426683547
|
|
|
NM_031885.5(BBS2):c.235A>C (p.Thr79Pro)
|
rs1387025330
|
|
|
NM_031885.5(BBS2):c.266A>G (p.Tyr89Cys)
|
rs560910758
|
|
|
NM_031885.5(BBS2):c.35A>G (p.His12Arg)
|
rs1238233777
|
|
|
NM_031885.5(BBS2):c.482A>G (p.Asp161Gly)
|
rs755150651
|
|
|
NM_031885.5(BBS2):c.55G>A (p.Val19Met)
|
rs1158566793
|
|
|
NM_031885.5(BBS2):c.613-1G>C
|
rs2144163316
|
|
|
NM_031885.5(BBS2):c.661del (p.Leu221fs)
|
rs770258677
|
|
|
NM_031885.5(BBS2):c.68G>T (p.Arg23Leu)
|
rs1162842645
|
|
|
NM_031885.5(BBS2):c.766G>A (p.Gly256Arg)
|
rs886052147
|
|
|
NM_031885.5(BBS2):c.913T>G (p.Leu305Val)
|
rs1964310691
|
|
|
NM_031885.5(BBS2):c.950A>G (p.Tyr317Cys)
|
rs1597016660
|
|
|
NM_031885.5(BBS2):c.962C>A (p.Thr321Lys)
|
rs758548498
|
|
|
NM_031885.5(BBS2):c.983T>A (p.Leu328His)
|
rs753806664
|
|
|
NM_031885.5(BBS2):c.984C>T (p.Leu328=)
|
rs1285508370
|
|
|
NM_033056.3(PCDH15):c.4368-13_4368-10dup
|
rs530804327
|
|
|
NM_033056.4(PCDH15):c.4368T>A (p.Ile1456=)
|
rs140748627
|
|
|
NM_033056.4(PCDH15):c.4402G>A (p.Gly1468Arg)
|
rs1406470633
|
|
|
NM_033056.4(PCDH15):c.4596C>T (p.Asn1532=)
|
rs2076416258
|
|
|
NM_033056.4(PCDH15):c.4654T>C (p.Phe1552Leu)
|
rs765129268
|
|
|
NM_033056.4(PCDH15):c.4681_4684dup (p.Ser1562Ter)
|
rs730880357
|
|
|
NM_033056.4(PCDH15):c.4728G>A (p.Gln1576=)
|
rs1564538186
|
|
|
NM_033056.4(PCDH15):c.4728_4736dup (p.Val1578_Ser1579insArgSerVal)
|
rs2076402324
|
|
|
NM_033056.4(PCDH15):c.4794G>A (p.Gln1598=)
|
rs372440971
|
|
|
NM_033056.4(PCDH15):c.4831_4834dup (p.Thr1612fs)
|
rs545191822
|
|
|
NM_033056.4(PCDH15):c.4907_4908del (p.Lys1636fs)
|
rs1491209806
|
|
|
NM_033056.4(PCDH15):c.4928_4945dup (p.Glu1643_Glu1648dup)
|
rs758259410
|
|
|
NM_033056.4(PCDH15):c.5066TCA[3] (p.Ile1690dup)
|
rs772692454
|
|
|
NM_033056.4(PCDH15):c.5077_5079del (p.Pro1693del)
|
rs2076368967
|
|
|
NM_033056.4(PCDH15):c.5245CCT[3] (p.Pro1752del)
|
rs397517462
|
|
|
NM_033056.4(PCDH15):c.5257_5271del (p.Ile1753_Ser1757del)
|
rs777129729
|
|
|
NM_033056.4(PCDH15):c.5272_5280del (p.Pro1758_Pro1760del)
|
rs754779351
|
|
|
NM_033056.4(PCDH15):c.5275_5286del (p.Pro1759_Pro1762del)
|
rs761936890
|
|
|
NM_033056.4(PCDH15):c.5280_5342del (p.Ala1761_Pro1781del)
|
rs1554820012
|
|
|
NM_033056.4(PCDH15):c.5281GCTCCT[1] (p.1761AP[1])
|
rs397517465
|
|
|
NM_033056.4(PCDH15):c.5287_5301del (p.Ala1763_Pro1767del)
|
rs770671117
|
|
|
NM_033056.4(PCDH15):c.5338C>T (p.Pro1780Ser)
|
rs751914445
|
|
|
NM_033056.4(PCDH15):c.5343_5351del (p.1780PPS[1])
|
rs2076338069
|
|
|
NM_033056.4(PCDH15):c.5347_5363del (p.Pro1783fs)
|
rs748086016
|
|
|
NM_033056.4(PCDH15):c.5406G>T (p.Thr1802=)
|
rs534255804
|
|
|
NM_033056.4(PCDH15):c.5422C>A (p.Pro1808Thr)
|
rs727505235
|
|
|
NM_033056.4(PCDH15):c.5547G>A (p.Thr1849=)
|
rs767304005
|
|
|
NM_033056.4(PCDH15):c.5565C>A (p.Ala1855=)
|
rs111033445
|
|
|
NM_033056.4(PCDH15):c.5573_5576dup (p.Lys1859delinsAsnTer)
|
rs770082088
|
|
|
NM_033056.4(PCDH15):c.5597C>G (p.Ser1866Ter)
|
rs2076312170
|
|
|
NM_033056.4(PCDH15):c.5598AAC[1] (p.Thr1869del)
|
rs113363047
|
|
|
NM_033056.4(PCDH15):c.5599A>G (p.Thr1867Ala)
|
rs1420803454
|
|
|
NM_033056.4(PCDH15):c.5669_5671del (p.Ala1890del)
|
rs771643291
|
|
|
NM_033056.4(PCDH15):c.5708T>C (p.Ile1903Thr)
|
rs202223635
|
|
|
NM_033056.4(PCDH15):c.5717dup (p.Asn1906fs)
|
rs778380770
|
|
|
NM_033056.4(PCDH15):c.5721_5724del (p.Leu1908fs)
|
rs568470164
|
|
|
NM_033056.4(PCDH15):c.5721_5724dup (p.Arg1909fs)
|
rs568470164
|
|
|
NM_033056.4(PCDH15):c.5816A>T (p.Asn1939Ile)
|
rs931395591
|
|
|
NM_033056.4(PCDH15):c.5849_5852del (p.Ser1950fs)
|
rs757543551
|
|
|
NM_138694.4(PKHD1):c.10230A>G (p.Gln3410=)
|
rs1349645712
|
|
|
NM_138694.4(PKHD1):c.10251C>T (p.Ser3417=)
|
rs372394177
|
|
|
NM_138694.4(PKHD1):c.10281A>G (p.Leu3427=)
|
rs763463216
|
|
|
NM_138694.4(PKHD1):c.10388T>C (p.Leu3463Ser)
|
rs1772516071
|
|
|
NM_138694.4(PKHD1):c.10411G>A (p.Val3471Ile)
|
rs553752644
|
|
|
NM_138694.4(PKHD1):c.10414T>G (p.Cys3472Gly)
|
rs1772510920
|
|
|
NM_138694.4(PKHD1):c.10452dup (p.Leu3485fs)
|
rs771623148
|
|
|
NM_138694.4(PKHD1):c.10463A>G (p.Asn3488Ser)
|
rs1581894231
|
|
|
NM_138694.4(PKHD1):c.10469G>C (p.Ser3490Thr)
|
rs149486694
|
|
|
NM_138694.4(PKHD1):c.10471A>C (p.Thr3491Pro)
|
rs533977466
|
|
|
NM_138694.4(PKHD1):c.10536A>G (p.Glu3512=)
|
rs1581893486
|
|
|
NM_138694.4(PKHD1):c.10717G>C (p.Glu3573Gln)
|
rs1772450315
|
|
|
NM_138694.4(PKHD1):c.10737A>G (p.Val3579=)
|
rs555442845
|
|
|
NM_138694.4(PKHD1):c.10744G>T (p.Glu3582Ter)
|
rs148300854
|
|
|
NM_138694.4(PKHD1):c.10765C>T (p.Gln3589Ter)
|
rs780182068
|
|
|
NM_138694.4(PKHD1):c.10831A>C (p.Ile3611Leu)
|
rs1298906012
|
|
|
NM_138694.4(PKHD1):c.10856del (p.Lys3619fs)
|
rs1554183235
|
|
|
NM_138694.4(PKHD1):c.1088G>A (p.Gly363Glu)
|
rs573293029
|
|
|
NM_138694.4(PKHD1):c.11074C>T (p.Arg3692Ter)
|
rs769559267
|
|
|
NM_138694.4(PKHD1):c.11113G>A (p.Val3705Ile)
|
rs113697159
|
|
|
NM_138694.4(PKHD1):c.1118+1G>T
|
rs1808826795
|
|
|
NM_138694.4(PKHD1):c.11217G>T (p.Arg3739=)
|
rs958665190
|
|
|
NM_138694.4(PKHD1):c.11452G>T (p.Val3818Phe)
|
rs1385935333
|
|
|
NM_138694.4(PKHD1):c.11506+32dup
|
rs376358912
|
|
|
NM_138694.4(PKHD1):c.11507-10C>G
|
rs1768075438
|
|
|
NM_138694.4(PKHD1):c.11507-7G>A
|
rs373438297
|
|
|
NM_138694.4(PKHD1):c.11525G>T (p.Arg3842Leu)
|
rs76572975
|
|
|
NM_138694.4(PKHD1):c.11768A>G (p.Asp3923Gly)
|
rs1561981487
|
|
|
NM_138694.4(PKHD1):c.11863G>T (p.Val3955Phe)
|
rs769223833
|
|
|
NM_138694.4(PKHD1):c.11937G>C (p.Gly3979=)
|
rs1766326928
|
|
|
NM_138694.4(PKHD1):c.11958T>A (p.Ala3986=)
|
rs1766324047
|
|
|
NM_138694.4(PKHD1):c.1233+1G>A
|
rs886061623
|
|
|
NM_138694.4(PKHD1):c.1242_1250del (p.Ala415_Ile417del)
|
rs1554217913
|
|
|
NM_138694.4(PKHD1):c.1255G>A (p.Val419Ile)
|
rs138672830
|
|
|
NM_138694.4(PKHD1):c.1258G>C (p.Gly420Arg)
|
rs140458350
|
|
|
NM_138694.4(PKHD1):c.1397G>A (p.Gly466Glu)
|
rs750730042
|
|
|
NM_138694.4(PKHD1):c.1529del (p.Gly510fs)
|
rs1807855713
|
|
|
NM_138694.4(PKHD1):c.158A>G (p.Asn53Ser)
|
rs141790557
|
|
|
NM_138694.4(PKHD1):c.15G>A (p.Leu5=)
|
rs1812540624
|
|
|
NM_138694.4(PKHD1):c.1626_1629del (p.Leu543fs)
|
rs777295562
|
|
|
NM_138694.4(PKHD1):c.1710C>T (p.Asn570=)
|
rs200592905
|
|
|
NM_138694.4(PKHD1):c.1728C>T (p.Thr576=)
|
rs1468634187
|
|
|
NM_138694.4(PKHD1):c.1773T>G (p.Pro591=)
|
rs2128207463
|
|
|
NM_138694.4(PKHD1):c.1836+1G>A
|
rs780898021
|
|
|
NM_138694.4(PKHD1):c.1880T>A (p.Met627Lys)
|
rs786204696
|
|
|
NM_138694.4(PKHD1):c.1899C>T (p.Ile633=)
|
rs751853495
|
|
|
NM_138694.4(PKHD1):c.1965-2A>T
|
rs2128203974
|
|
|
NM_138694.4(PKHD1):c.1980C>G (p.Cys660Trp)
|
rs1554214097
|
|
|
NM_138694.4(PKHD1):c.1982C>T (p.Thr661Ile)
|
rs1012552954
|
|
|
NM_138694.4(PKHD1):c.2005C>G (p.Arg669Gly)
|
rs375547868
|
|
|
NM_138694.4(PKHD1):c.208C>A (p.Pro70Thr)
|
rs781485593
|
|
|
NM_138694.4(PKHD1):c.208C>T (p.Pro70Ser)
|
rs781485593
|
|
|
NM_138694.4(PKHD1):c.2180dup (p.Asn727fs)
|
rs1554212326
|
|
|
NM_138694.4(PKHD1):c.2200G>T (p.Val734Leu)
|
rs1806591259
|
|
|
NM_138694.4(PKHD1):c.2269A>G (p.Ile757Val)
|
rs777183511
|
|
|
NM_138694.4(PKHD1):c.2280-2A>G
|
rs780675990
|
|
|
NM_138694.4(PKHD1):c.2357C>T (p.Pro786Leu)
|
rs1806234590
|
|
|
NM_138694.4(PKHD1):c.2463C>G (p.Ala821=)
|
rs9474136
|
|
|
NM_138694.4(PKHD1):c.2463C>T (p.Ala821=)
|
rs9474136
|
|
|
NM_138694.4(PKHD1):c.2483A>G (p.Tyr828Cys)
|
rs781698219
|
|
|
NM_138694.4(PKHD1):c.2569G>A (p.Gly857Arg)
|
rs1562220663
|
|
|
NM_138694.4(PKHD1):c.2592+1G>C
|
rs758812102
|
|
|
NM_138694.4(PKHD1):c.2642T>C (p.Val881Ala)
|
rs373974753
|
|
|
NM_138694.4(PKHD1):c.279C>G (p.Thr93=)
|
rs1052073195
|
|
|
NM_138694.4(PKHD1):c.2926T>C (p.Ser976Pro)
|
rs770882723
|
|
|
NM_138694.4(PKHD1):c.2934G>A (p.Gln978=)
|
rs536715802
|
|
|
NM_138694.4(PKHD1):c.2957A>T (p.Asp986Val)
|
rs957113162
|
|
|
NM_138694.4(PKHD1):c.3024C>T (p.Ala1008=)
|
rs559684657
|
|
|
NM_138694.4(PKHD1):c.3043C>T (p.Leu1015=)
|
rs1272367929
|
|
|
NM_138694.4(PKHD1):c.3072G>A (p.Val1024=)
|
rs1581909859
|
|
|
NM_138694.4(PKHD1):c.3118C>T (p.Arg1040Ter)
|
rs755183117
|
|
|
NM_138694.4(PKHD1):c.3122G>A (p.Gly1041Asp)
|
rs794727466
|
|
|
NM_138694.4(PKHD1):c.3412G>A (p.Asp1138Asn)
|
rs1192156901
|
|
|
NM_138694.4(PKHD1):c.3432C>T (p.His1144=)
|
rs376881116
|
|
|
NM_138694.4(PKHD1):c.3645C>T (p.Ser1215=)
|
rs1581815094
|
|
|
NM_138694.4(PKHD1):c.3701A>G (p.Asn1234Ser)
|
rs1802145665
|
|
|
NM_138694.4(PKHD1):c.3828G>A (p.Arg1276=)
|
rs1373102999
|
|
|
NM_138694.4(PKHD1):c.3933A>G (p.Thr1311=)
|
rs2128145709
|
|
|
NM_138694.4(PKHD1):c.3936T>C (p.Asn1312=)
|
rs757243486
|
|
|
NM_138694.4(PKHD1):c.3940del (p.Ser1314fs)
|
rs1057517273
|
|
|
NM_138694.4(PKHD1):c.402G>A (p.Ala134=)
|
rs200992930
|
|
|
NM_138694.4(PKHD1):c.4047G>A (p.Leu1349=)
|
rs754565280
|
|
|
NM_138694.4(PKHD1):c.4133T>C (p.Met1378Thr)
|
rs1178166648
|
|
|
NM_138694.4(PKHD1):c.4161G>C (p.Val1387=)
|
rs1802043497
|
|
|
NM_138694.4(PKHD1):c.4187C>T (p.Pro1396Leu)
|
rs1581809655
|
|
|
NM_138694.4(PKHD1):c.4217T>C (p.Ile1406Thr)
|
rs1562166222
|
|
|
NM_138694.4(PKHD1):c.4236G>A (p.Leu1412=)
|
rs2128144470
|
|
|
NM_138694.4(PKHD1):c.4257G>A (p.Arg1419=)
|
rs577832997
|
|
|
NM_138694.4(PKHD1):c.449-15TTC[2]
|
rs545812620
|
|
|
NM_138694.4(PKHD1):c.449-6A>T
|
rs200204976
|
|
|
NM_138694.4(PKHD1):c.4505T>A (p.Val1502Glu)
|
rs1581806804
|
|
|
NM_138694.4(PKHD1):c.4539T>C (p.Ala1513=)
|
rs2128143441
|
|
|
NM_138694.4(PKHD1):c.4674G>A (p.Gly1558=)
|
rs943531478
|
|
|
NM_138694.4(PKHD1):c.4812G>A (p.Thr1604=)
|
rs780533224
|
|
|
NM_138694.4(PKHD1):c.4844C>T (p.Thr1615Met)
|
rs147529495
|
|
|
NM_138694.4(PKHD1):c.4973C>T (p.Pro1658Leu)
|
rs1554198203
|
|
|
NM_138694.4(PKHD1):c.5090G>A (p.Gly1697Asp)
|
rs752432638
|
|
|
NM_138694.4(PKHD1):c.5133C>G (p.Ala1711=)
|
rs144841026
|
|
|
NM_138694.4(PKHD1):c.5199C>A (p.Thr1733=)
|
rs148790132
|
|
|
NM_138694.4(PKHD1):c.5199C>T (p.Thr1733=)
|
rs148790132
|
|
|
NM_138694.4(PKHD1):c.5259G>T (p.Val1753=)
|
rs200864129
|
|
|
NM_138694.4(PKHD1):c.5263G>A (p.Val1755Met)
|
rs1201402132
|
|
|
NM_138694.4(PKHD1):c.534G>A (p.Val178=)
|
rs1226545035
|
|
|
NM_138694.4(PKHD1):c.5411del (p.Arg1804fs)
|
rs1554194574
|
|
|
NM_138694.4(PKHD1):c.5448T>A (p.Tyr1816Ter)
|
rs1554194511
|
|
|
NM_138694.4(PKHD1):c.5478G>C (p.Ala1826=)
|
rs137925439
|
|
|
NM_138694.4(PKHD1):c.5503C>T (p.Pro1835Ser)
|
rs1562140504
|
|
|
NM_138694.4(PKHD1):c.5574T>G (p.Phe1858Leu)
|
rs1562140096
|
|
|
NM_138694.4(PKHD1):c.5587G>T (p.Gly1863Cys)
|
rs776275341
|
|
|
NM_138694.4(PKHD1):c.560G>A (p.Trp187Ter)
|
rs1810710453
|
|
|
NM_138694.4(PKHD1):c.5752-2A>G
|
rs1057516407
|
|
|
NM_138694.4(PKHD1):c.5776C>T (p.Arg1926Trp)
|
rs543037335
|
|
|
NM_138694.4(PKHD1):c.5877C>T (p.Asn1959=)
|
rs955588679
|
|
|
NM_138694.4(PKHD1):c.5879_5880del (p.Thr1960fs)
|
rs771180444
|
|
|
NM_138694.4(PKHD1):c.602+1G>A
|
rs1554223950
|
|
|
NM_138694.4(PKHD1):c.6091del (p.Ala2031fs)
|
rs1057516804
|
|
|
NM_138694.4(PKHD1):c.6149G>C (p.Cys2050Ser)
|
rs551783157
|
|
|
NM_138694.4(PKHD1):c.6267G>A (p.Pro2089=)
|
rs1399100600
|
|
|
NM_138694.4(PKHD1):c.6333-8_6333-7del
|
rs138161138
|
|
|
NM_138694.4(PKHD1):c.6360G>C (p.Trp2120Cys)
|
rs1440253606
|
|
|
NM_138694.4(PKHD1):c.6383del (p.Ile2127_Leu2128insTer)
|
rs1405067373
|
|
|
NM_138694.4(PKHD1):c.6641A>G (p.His2214Arg)
|
rs778124617
|
|
|
NM_138694.4(PKHD1):c.6652A>T (p.Ser2218Cys)
|
rs756450923
|
|
|
NM_138694.4(PKHD1):c.6683-3C>T
|
rs1554300531
|
|
|
NM_138694.4(PKHD1):c.6756G>A (p.Leu2252=)
|
rs368194577
|
|
|
NM_138694.4(PKHD1):c.6809-2A>T
|
rs1340926191
|
|
|
NM_138694.4(PKHD1):c.6840G>A (p.Trp2280Ter)
|
rs1583295819
|
|
|
NM_138694.4(PKHD1):c.6919G>C (p.Gly2307Arg)
|
rs765874902
|
|
|
NM_138694.4(PKHD1):c.6924C>G (p.Ala2308=)
|
rs373795139
|
|
|
NM_138694.4(PKHD1):c.6938A>G (p.Asn2313Ser)
|
rs1334374415
|
|
|
NM_138694.4(PKHD1):c.6997-5T>C
|
rs1422813423
|
|
|
NM_138694.4(PKHD1):c.7122del (p.Phe2374fs)
|
rs1554289495
|
|
|
NM_138694.4(PKHD1):c.7173G>C (p.Leu2391=)
|
rs765985090
|
|
|
NM_138694.4(PKHD1):c.733C>T (p.Leu245=)
|
rs111809699
|
|
|
NM_138694.4(PKHD1):c.7472G>A (p.Cys2491Tyr)
|
rs774331743
|
|
|
NM_138694.4(PKHD1):c.7486+41C>A
|
rs982874
|
|
|
NM_138694.4(PKHD1):c.7597G>C (p.Gly2533Arg)
|
rs1246936197
|
|
|
NM_138694.4(PKHD1):c.7673G>A (p.Arg2558Gln)
|
rs369677008
|
|
|
NM_138694.4(PKHD1):c.7684G>A (p.Gly2562Ser)
|
rs1358906875
|
|
|
NM_138694.4(PKHD1):c.776C>T (p.Ser259Leu)
|
rs1160054242
|
|
|
NM_138694.4(PKHD1):c.778+1G>C
|
rs753471298
|
|
|
NM_138694.4(PKHD1):c.779-13_779-12del
|
rs5876252
|
|
|
NM_138694.4(PKHD1):c.779-25dup
|
rs5876252
|
|
|
NM_138694.4(PKHD1):c.7814A>C (p.Asp2605Ala)
|
rs1773239517
|
|
|
NM_138694.4(PKHD1):c.782T>C (p.Ile261Thr)
|
rs398124493
|
|
|
NM_138694.4(PKHD1):c.7866C>T (p.Thr2622=)
|
rs752563887
|
|
|
NM_138694.4(PKHD1):c.786A>G (p.Leu262=)
|
rs570064466
|
|
|
NM_138694.4(PKHD1):c.7973T>A (p.Leu2658Ter)
|
rs1482563973
|
|
|
NM_138694.4(PKHD1):c.8012G>T (p.Arg2671Leu)
|
rs778592523
|
|
|
NM_138694.4(PKHD1):c.8114del (p.Gly2705fs)
|
rs774050795
|
|
|
NM_138694.4(PKHD1):c.8163A>G (p.Pro2721=)
|
rs764470314
|
|
|
NM_138694.4(PKHD1):c.8174-18dup
|
rs566540835
|
|
|
NM_138694.4(PKHD1):c.8258A>G (p.Asn2753Ser)
|
rs749313015
|
|
|
NM_138694.4(PKHD1):c.8270C>G (p.Pro2757Arg)
|
rs1554263087
|
|
|
NM_138694.4(PKHD1):c.8299C>T (p.Pro2767Ser)
|
rs764600547
|
|
|
NM_138694.4(PKHD1):c.8412G>A (p.Met2804Ile)
|
rs1363630467
|
|
|
NM_138694.4(PKHD1):c.8598C>T (p.Asn2866=)
|
rs893003949
|
|
|
NM_138694.4(PKHD1):c.8648TAG[1] (p.Val2884del)
|
rs1554221478
|
|
|
NM_138694.4(PKHD1):c.8673C>T (p.Arg2891=)
|
rs116098879
|
|
|
NM_138694.4(PKHD1):c.8683A>G (p.Lys2895Glu)
|
rs1786704837
|
|
|
NM_138694.4(PKHD1):c.8863C>T (p.Arg2955Ter)
|
rs1229564017
|
|
|
NM_138694.4(PKHD1):c.8894G>A (p.Cys2965Tyr)
|
rs1786406368
|
|
|
NM_138694.4(PKHD1):c.9027G>T (p.Val3009=)
|
rs1785566962
|
|
|
NM_138694.4(PKHD1):c.904G>A (p.Val302Met)
|
rs779418460
|
|
|
NM_138694.4(PKHD1):c.9163G>T (p.Gly3055Cys)
|
rs1060501355
|
|
|
NM_138694.4(PKHD1):c.920T>C (p.Ile307Thr)
|
rs1288017883
|
|
|
NM_138694.4(PKHD1):c.9211C>G (p.Pro3071Ala)
|
rs1785533041
|
|
|
NM_138694.4(PKHD1):c.9327C>G (p.His3109Gln)
|
rs1160858819
|
|
|
NM_138694.4(PKHD1):c.9369G>A (p.Ala3123=)
|
rs745523374
|
|
|
NM_138694.4(PKHD1):c.9369G>T (p.Ala3123=)
|
rs745523374
|
|
|
NM_138694.4(PKHD1):c.9384T>C (p.His3128=)
|
rs2150984309
|
|
|
NM_138694.4(PKHD1):c.9408T>C (p.Ser3136=)
|
rs1785490409
|
|
|
NM_138694.4(PKHD1):c.9546A>G (p.Val3182=)
|
rs758820099
|
|
|
NM_138694.4(PKHD1):c.9585A>C (p.Lys3195Asn)
|
rs1417442108
|
|
|
NM_138694.4(PKHD1):c.9705T>A (p.Asn3235Lys)
|
rs759568939
|
|
|
NM_138694.4(PKHD1):c.9719G>A (p.Arg3240Gln)
|
rs146649803
|
|
|
NM_138694.4(PKHD1):c.9830-2A>G
|
rs890681861
|
|
|
NM_138694.4(PKHD1):c.9923C>G (p.Pro3308Arg)
|
rs1307732644
|
|
|
NM_138694.4(PKHD1):c.9998G>A (p.Arg3333Lys)
|
rs1057524563
|
|
|
NM_147127.5(EVC2):c.1711-11_1711-10del
|
rs35103377
|
|
|
NM_152443.3(RDH12):c.*1C>G
|
rs2038317945
|
|
|
NM_152443.3(RDH12):c.164C>T (p.Thr55Met)
|
rs766631462
|
|
|
NM_152443.3(RDH12):c.185G>T (p.Arg62Leu)
|
rs778481181
|
|
|
NM_152443.3(RDH12):c.187+5G>A
|
rs2038164046
|
|
|
NM_152443.3(RDH12):c.188-1G>A
|
rs2140142183
|
|
|
NM_152443.3(RDH12):c.226G>T (p.Gly76Trp)
|
rs368489658
|
|
|
NM_152443.3(RDH12):c.26CCT[1] (p.Ser10del)
|
rs754556714
|
|
|
NM_152443.3(RDH12):c.39G>A (p.Ser13=)
|
rs146672918
|
|
|
NM_152443.3(RDH12):c.474C>G (p.Leu158=)
|
rs755916691
|
|
|
NM_152443.3(RDH12):c.474C>T (p.Leu158=)
|
rs755916691
|
|
|
NM_152443.3(RDH12):c.540T>G (p.Ile180Met)
|
rs778933833
|
|
|
NM_152443.3(RDH12):c.552C>T (p.Pro184=)
|
rs1453486367
|
|
|
NM_152443.3(RDH12):c.608G>C (p.Ser203Thr)
|
rs1374822427
|
|
|
NM_152443.3(RDH12):c.609C>A (p.Ser203Arg)
|
rs753959716
|
|
|
NM_152443.3(RDH12):c.634C>G (p.Arg212Gly)
|
rs146653515
|
|
|
NM_152443.3(RDH12):c.641T>C (p.Leu214Pro)
|
rs998898101
|
|
|
NM_152443.3(RDH12):c.716G>T (p.Arg239Leu)
|
rs1239043055
|
|
|
NM_152443.3(RDH12):c.739C>T (p.Leu247Phe)
|
rs1185491186
|
|
|
NM_152443.3(RDH12):c.758C>G (p.Pro253Arg)
|
rs770465995
|
|
|
NM_152443.3(RDH12):c.758C>T (p.Pro253Leu)
|
rs770465995
|
|
|
NM_152443.3(RDH12):c.771G>A (p.Thr257=)
|
rs1035808739
|
|
|
NM_152443.3(RDH12):c.806_810del (p.Ala269fs)
|
rs386834261
|
|
|
NM_152443.3(RDH12):c.848+2T>C
|
rs878853338
|
|
|
NM_152443.3(RDH12):c.878G>T (p.Arg293Met)
|
rs746131696
|
|
|
NM_152443.3(RDH12):c.910T>C (p.Trp304Arg)
|
rs878853339
|
|
|
NM_152443.3(RDH12):c.912G>A (p.Trp304Ter)
|
rs2038317129
|
|
|
NM_152443.3(RDH12):c.931C>T (p.Leu311=)
|
rs201458213
|
|
|
NM_152618.3(BBS12):c.1115_1116del (p.Gly371_Phe372insTer)
|
rs587777803
|
|
|
NM_152618.3(BBS12):c.1401C>T (p.Asp467=)
|
rs1578491425
|
|
|
NM_152618.3(BBS12):c.1459A>G (p.Arg487Gly)
|
rs772894742
|
|
|
NM_152618.3(BBS12):c.1465G>A (p.Ala489Thr)
|
rs145489987
|
|
|
NM_152618.3(BBS12):c.1577T>C (p.Leu526Ser)
|
rs1560708457
|
|
|
NM_152618.3(BBS12):c.1635G>A (p.Leu545=)
|
rs1800929032
|
|
|
NM_152618.3(BBS12):c.172G>T (p.Glu58Ter)
|
rs759455327
|
|
|
NM_152618.3(BBS12):c.19G>A (p.Val7Ile)
|
rs1464814059
|
|
|
NM_152618.3(BBS12):c.274G>A (p.Val92Ile)
|
rs973844350
|
|
|
NM_152618.3(BBS12):c.318T>C (p.Gly106=)
|
rs1578489832
|
|
|
NM_152618.3(BBS12):c.31AGA[1] (p.Arg12del)
|
rs752885483
|
|
|
NM_152618.3(BBS12):c.580C>A (p.Leu194Ile)
|
rs200300023
|
|
|
NM_152618.3(BBS12):c.668A>G (p.Asp223Gly)
|
rs1060501473
|
|
|
NM_152618.3(BBS12):c.670dup (p.Thr224fs)
|
rs1339432710
|
|
|
NM_152618.3(BBS12):c.745C>G (p.Pro249Ala)
|
rs758191621
|
|
|
NM_152618.3(BBS12):c.810G>C (p.Glu270Asp)
|
rs774510452
|
|
|
NM_152618.3(BBS12):c.860AAG[1] (p.Glu288del)
|
rs745504524
|
|
|
NM_152618.3(BBS12):c.906C>A (p.Gly302=)
|
rs557013132
|
|
|
NM_152618.3(BBS12):c.977CTT[2] (p.Ser328del)
|
rs779801356
|
|
|
NM_153676.4(USH1C):c.1013A>C (p.Glu338Ala)
|
rs876658109
|
|
|
NM_153676.4(USH1C):c.1020-2A>C
|
rs147956944
|
|
|
NM_153676.4(USH1C):c.1069C>T (p.Arg357Trp)
|
rs140934960
|
|
|
NM_153676.4(USH1C):c.127G>A (p.Val43Met)
|
rs145500807
|
|
|
NM_153676.4(USH1C):c.135C>T (p.Asp45=)
|
rs140319839
|
|
|
NM_153676.4(USH1C):c.1823C>G (p.Pro608Arg)
|
rs41282932
|
|
|
NM_153676.4(USH1C):c.2134-22dup
|
rs397848183
|
|
|
NM_153676.4(USH1C):c.2225T>C (p.Met742Thr)
|
rs200182990
|
|
|
NM_153676.4(USH1C):c.225T>C (p.Asp75=)
|
rs111033279
|
|
|
NM_153676.4(USH1C):c.2317G>A (p.Asp773Asn)
|
rs775036726
|
|
|
NM_153676.4(USH1C):c.2327T>A (p.Ile776Asn)
|
rs1019237939
|
|
|
NM_153676.4(USH1C):c.2374C>A (p.Arg792=)
|
rs200428926
|
|
|
NM_153676.4(USH1C):c.238C>G (p.Arg80Gly)
|
rs774005703
|
|
|
NM_153676.4(USH1C):c.238C>T (p.Arg80Trp)
|
rs774005703
|
|
|
NM_153676.4(USH1C):c.238dup (p.Arg80fs)
|
rs397515359
|
|
|
NM_153676.4(USH1C):c.2401G>A (p.Glu801Lys)
|
rs371257969
|
|
|
NM_153676.4(USH1C):c.2418C>A (p.Asn806Lys)
|
rs397517876
|
|
|
NM_153676.4(USH1C):c.245C>G (p.Ser82Cys)
|
rs769021971
|
|
|
NM_153676.4(USH1C):c.324T>C (p.Phe108=)
|
rs549758189
|
|
|
NM_153676.4(USH1C):c.341T>C (p.Ile114Thr)
|
rs767655370
|
|
|
NM_153676.4(USH1C):c.358G>A (p.Gly120Ser)
|
rs1850953775
|
|
|
NM_153676.4(USH1C):c.405C>G (p.Val135=)
|
rs762298047
|
|
|
NM_153676.4(USH1C):c.409A>G (p.Ile137Val)
|
rs1850747142
|
|
|
NM_153676.4(USH1C):c.412A>G (p.Asn138Asp)
|
rs1850746868
|
|
|
NM_153676.4(USH1C):c.496+1G>A
|
rs138138689
|
|
|
NM_153676.4(USH1C):c.496+1G>T
|
rs138138689
|
|
|
NM_153676.4(USH1C):c.501C>T (p.Ile167=)
|
rs1382747364
|
|
|
NM_153676.4(USH1C):c.514G>T (p.Val172Leu)
|
rs748703138
|
|
|
NM_153676.4(USH1C):c.530A>G (p.Asp177Gly)
|
rs1850699098
|
|
|
NM_153676.4(USH1C):c.567G>T (p.Val189=)
|
rs1850696503
|
|
|
NM_153676.4(USH1C):c.569C>G (p.Ser190Trp)
|
rs200319849
|
|
|
NM_153676.4(USH1C):c.569C>T (p.Ser190Leu)
|
rs200319849
|
|
|
NM_153676.4(USH1C):c.76C>T (p.Leu26Phe)
|
rs267602805
|
|
|
NM_153676.4(USH1C):c.776T>G (p.Val259Gly)
|
rs772108970
|
|
|
NM_153676.4(USH1C):c.901C>T (p.Arg301Trp)
|
rs574790229
|
|
|
NM_153717.3(EVC):c.1036_1037del (p.Leu346fs)
|
rs767913372
|
|
|
NM_153717.3(EVC):c.1041G>A (p.Thr347=)
|
rs148418233
|
|
|
NM_153717.3(EVC):c.104G>A (p.Gly35Asp)
|
rs1560259105
|
|
|
NM_153717.3(EVC):c.1056_1059dup (p.Glu354fs)
|
rs1553873969
|
|
|
NM_153717.3(EVC):c.1109A>T (p.Glu370Val)
|
rs778032532
|
|
|
NM_153717.3(EVC):c.1135G>T (p.Ala379Ser)
|
rs760174792
|
|
|
NM_153717.3(EVC):c.1346C>A (p.Thr449Lys)
|
rs2302075
|
|
|
NM_153717.3(EVC):c.1493G>T (p.Arg498Met)
|
rs1577453796
|
|
|
NM_153717.3(EVC):c.1564-3C>T
|
rs747435572
|
|
|
NM_153717.3(EVC):c.1603G>A (p.Val535Met)
|
rs753720935
|
|
|
NM_153717.3(EVC):c.162C>T (p.Arg54=)
|
rs1305323625
|
|
|
NM_153717.3(EVC):c.1678G>T (p.Glu560Ter)
|
rs764397417
|
|
|
NM_153717.3(EVC):c.1727G>A (p.Arg576Gln)
|
rs1383180
|
|
|
NM_153717.3(EVC):c.1776+7G>A
|
rs750719632
|
|
|
NM_153717.3(EVC):c.1776+7del
|
rs540001390
|
|
|
NM_153717.3(EVC):c.1777-9C>T
|
rs113468936
|
|
|
NM_153717.3(EVC):c.1850G>T (p.Arg617Leu)
|
rs771110251
|
|
|
NM_153717.3(EVC):c.1854C>A (p.Gly618=)
|
rs11737221
|
|
|
NM_153717.3(EVC):c.1854C>T (p.Gly618=)
|
rs11737221
|
|
|
NM_153717.3(EVC):c.1864C>T (p.Arg622Ter)
|
rs1329006994
|
|
|
NM_153717.3(EVC):c.1995G>T (p.Ser665=)
|
rs142897994
|
|
|
NM_153717.3(EVC):c.2104C>G (p.Arg702Gly)
|
rs545087909
|
|
|
NM_153717.3(EVC):c.2274G>A (p.Lys758=)
|
rs199611644
|
|
|
NM_153717.3(EVC):c.2322G>A (p.Ala774=)
|
rs150373930
|
|
|
NM_153717.3(EVC):c.2335G>A (p.Val779Ile)
|
rs376396220
|
|
|
NM_153717.3(EVC):c.2339A>C (p.Tyr780Ser)
|
rs773252806
|
|
|
NM_153717.3(EVC):c.2395A>G (p.Arg799Gly)
|
rs1715095634
|
|
|
NM_153717.3(EVC):c.2449+15del
|
rs398092136
|
|
|
NM_153717.3(EVC):c.2562-4C>G
|
rs60082311
|
|
|
NM_153717.3(EVC):c.2653G>A (p.Asp885Asn)
|
rs1241844907
|
|
|
NM_153717.3(EVC):c.2782G>C (p.Glu928Gln)
|
rs1489027267
|
|
|
NM_153717.3(EVC):c.2879C>G (p.Thr960Ser)
|
rs780548102
|
|
|
NM_153717.3(EVC):c.2913G>A (p.Gln971=)
|
rs370649784
|
|
|
NM_153717.3(EVC):c.2925A>C (p.Glu975Asp)
|
rs1399872123
|
|
|
NM_153717.3(EVC):c.2932G>T (p.Asp978Tyr)
|
rs150173231
|
|
|
NM_153717.3(EVC):c.363C>A (p.Tyr121Ter)
|
rs748523193
|
|
|
NM_153717.3(EVC):c.46C>T (p.Leu16=)
|
rs1722990488
|
|
|
NM_153717.3(EVC):c.589G>T (p.Ala197Ser)
|
rs115507440
|
|
|
NM_153717.3(EVC):c.58G>C (p.Ala20Pro)
|
rs1359522467
|
|
|
NM_153717.3(EVC):c.696G>C (p.Lys232Asn)
|
rs371664035
|
|
|
NM_153717.3(EVC):c.752dup (p.Lys252fs)
|
rs1553871792
|
|
|
NM_153717.3(EVC):c.901AAG[1] (p.Lys302del)
|
rs755381180
|
|
|
NM_153717.3(EVC):c.933C>T (p.Ile311=)
|
rs759718572
|
|
|
NM_153717.3(EVC):c.939+1G>A
|
rs1553873138
|
|
|
NM_174878.3(CLRN1):c.208G>T (p.Gly70Cys)
|
rs983316791
|
|
|
NM_174878.3(CLRN1):c.268C>G (p.Leu90Val)
|
rs1325008535
|
|
|
NM_174878.3(CLRN1):c.40G>A (p.Gly14Arg)
|
rs1553776112
|
|
|
NM_174878.3(CLRN1):c.43G>A (p.Val15Met)
|
rs1559996357
|
|
|
NM_174878.3(CLRN1):c.502dup (p.Ile168fs)
|
rs746523071
|
|
|
NM_174878.3(CLRN1):c.58T>C (p.Cys20Arg)
|
rs764138183
|
|
|
NM_201253.3(CRB1):c.1093C>T (p.Arg365Cys)
|
rs116347915
|
|
|
NM_201253.3(CRB1):c.1094G>A (p.Arg365His)
|
rs777528044
|
|
|
NM_201253.3(CRB1):c.1292C>T (p.Thr431Ile)
|
rs751691851
|
|
|
NM_201253.3(CRB1):c.1426A>G (p.Thr476Ala)
|
rs1553260314
|
|
|
NM_201253.3(CRB1):c.1428C>G (p.Thr476=)
|
rs62636282
|
|
|
NM_201253.3(CRB1):c.1431G>A (p.Gly477=)
|
rs761872993
|
|
|
NM_201253.3(CRB1):c.1431del (p.Ser478fs)
|
rs1553260321
|
|
|
NM_201253.3(CRB1):c.200G>C (p.Cys67Ser)
|
rs749112809
|
|
|
NM_201253.3(CRB1):c.2042G>A (p.Cys681Tyr)
|
rs62636266
|
|
|
NM_201253.3(CRB1):c.2056C>T (p.Arg686Cys)
|
rs1204363918
|
|
|
NM_201253.3(CRB1):c.2066A>G (p.Asn689Ser)
|
rs1664351600
|
|
|
NM_201253.3(CRB1):c.2243C>T (p.Pro748Leu)
|
rs1664651920
|
|
|
NM_201253.3(CRB1):c.2272A>T (p.Ser758Cys)
|
rs201700675
|
|
|
NM_201253.3(CRB1):c.2275A>G (p.Thr759Ala)
|
rs1485086776
|
|
|
NM_201253.3(CRB1):c.2316A>G (p.Leu772=)
|
rs964544440
|
|
|
NM_201253.3(CRB1):c.245G>A (p.Ser82Asn)
|
rs1658661237
|
|
|
NM_201253.3(CRB1):c.2501G>A (p.Gly834Asp)
|
rs1085307972
|
|
|
NM_201253.3(CRB1):c.257_258dup (p.Asn87Ter)
|
rs62636260
|
|
|
NM_201253.3(CRB1):c.2603C>T (p.Pro868Leu)
|
rs1664680830
|
|
|
NM_201253.3(CRB1):c.2639A>G (p.Asn880Ser)
|
rs910489135
|
|
|
NM_201253.3(CRB1):c.2805C>A (p.His935Gln)
|
rs767706271
|
|
|
NM_201253.3(CRB1):c.2839G>A (p.Glu947Lys)
|
rs574162883
|
|
|
NM_201253.3(CRB1):c.2843-1G>T
|
rs878853368
|
|
|
NM_201253.3(CRB1):c.2909C>T (p.Thr970Ile)
|
rs766793013
|
|
|
NM_201253.3(CRB1):c.2930C>A (p.Thr977Lys)
|
rs1665046846
|
|
|
NM_201253.3(CRB1):c.2963T>C (p.Ile988Thr)
|
rs1571555801
|
|
|
NM_201253.3(CRB1):c.3014A>T (p.Asp1005Val)
|
rs369184026
|
|
|
NM_201253.3(CRB1):c.3203C>A (p.Thr1068Asn)
|
rs1452661857
|
|
|
NM_201253.3(CRB1):c.3258T>A (p.Ala1086=)
|
rs535494663
|
|
|
NM_201253.3(CRB1):c.3343G>C (p.Gly1115Arg)
|
rs779253997
|
|
|
NM_201253.3(CRB1):c.351C>G (p.Asn117Lys)
|
rs794727317
|
|
|
NM_201253.3(CRB1):c.3521G>C (p.Cys1174Ser)
|
rs1665102302
|
|
|
NM_201253.3(CRB1):c.3784G>A (p.Glu1262Lys)
|
rs1007094417
|
|
|
NM_201253.3(CRB1):c.3974_3976dup (p.Val1325dup)
|
rs750573216
|
|
|
NM_201253.3(CRB1):c.3988del (p.Glu1330fs)
|
rs1057520152
|
|
|
NM_201253.3(CRB1):c.4163G>A (p.Gly1388Asp)
|
rs765740058
|
|
|
NM_201253.3(CRB1):c.479G>A (p.Gly160Glu)
|
rs1352663513
|
|
|
NM_201253.3(CRB1):c.512C>G (p.Ser171Cys)
|
rs763841981
|
|
|
NM_201253.3(CRB1):c.613_619del (p.Ile205fs)
|
rs62645752
|
|
|
NM_201253.3(CRB1):c.663_664del (p.Cys221_Glu222delinsTer)
|
rs778731851
|
|
|
NM_201253.3(CRB1):c.71-2A>G
|
rs1383691293
|
|
|
NM_201253.3(CRB1):c.796T>A (p.Cys266Ser)
|
rs1659650891
|
|
|
NM_201253.3(CRB1):c.839G>A (p.Gly280Glu)
|
rs930465675
|
|
|
NM_201253.3(CRB1):c.97A>G (p.Arg33Gly)
|
rs1452416023
|
|
|
NM_201253.3(CRB1):c.988+10A>T
|
rs1659846392
|
|
|
NM_206933.4(USH2A):c.-1C>G
|
rs547139318
|
|
|
NM_206933.4(USH2A):c.-4A>G
|
rs2039693971
|
|
|
NM_206933.4(USH2A):c.10013C>T (p.Ser3338Leu)
|
rs746870063
|
|
|
NM_206933.4(USH2A):c.100C>T (p.Arg34Ter)
|
rs772808534
|
|
|
NM_206933.4(USH2A):c.10175T>A (p.Met3392Lys)
|
rs757682417
|
|
|
NM_206933.4(USH2A):c.101G>A (p.Arg34Gln)
|
rs2039690682
|
|
|
NM_206933.4(USH2A):c.10388-2A>G
|
rs1553261479
|
|
|
NM_206933.4(USH2A):c.10413A>G (p.Thr3471=)
|
rs530322386
|
|
|
NM_206933.4(USH2A):c.10415A>G (p.Tyr3472Cys)
|
rs1553261469
|
|
|
NM_206933.4(USH2A):c.10534A>C (p.Asn3512His)
|
rs758985068
|
|
|
NM_206933.4(USH2A):c.10666G>A (p.Gly3556Arg)
|
rs1661660762
|
|
|
NM_206933.4(USH2A):c.10699del (p.Gln3566_Leu3567insTer)
|
rs1661659605
|
|
|
NM_206933.4(USH2A):c.10734T>C (p.Ser3578=)
|
rs1661658126
|
|
|
NM_206933.4(USH2A):c.10740+7G>A
|
rs201206110
|
|
|
NM_206933.4(USH2A):c.10779C>G (p.Ile3593Met)
|
rs781539138
|
|
|
NM_206933.4(USH2A):c.11012C>T (p.Pro3671Leu)
|
rs1238814587
|
|
|
NM_206933.4(USH2A):c.11213A>T (p.Asn3738Ile)
|
rs1416382590
|
|
|
NM_206933.4(USH2A):c.11216_11223del (p.Leu3739fs)
|
rs1571657777
|
|
|
NM_206933.4(USH2A):c.11228G>A (p.Ser3743Asn)
|
rs112898958
|
|
|
NM_206933.4(USH2A):c.11390-24CT[8]
|
rs140003076
|
|
|
NM_206933.4(USH2A):c.11411del (p.Pro3804fs)
|
rs397517973
|
|
|
NM_206933.4(USH2A):c.11549-1G>A
|
rs878853407
|
|
|
NM_206933.4(USH2A):c.11549-5del
|
rs34565443
|
|
|
NM_206933.4(USH2A):c.11549-5dup
|
rs34565443
|
|
|
NM_206933.4(USH2A):c.11602A>G (p.Met3868Val)
|
rs35309576
|
|
|
NM_206933.4(USH2A):c.11687TCA[2] (p.Ile3898del)
|
rs727504714
|
|
|
NM_206933.4(USH2A):c.11725A>G (p.Ile3909Val)
|
rs1659895227
|
|
|
NM_206933.4(USH2A):c.11728G>C (p.Glu3910Gln)
|
rs1436435041
|
|
|
NM_206933.4(USH2A):c.11875_11876del (p.Gln3959fs)
|
rs779791079
|
|
|
NM_206933.4(USH2A):c.12027T>A (p.Pro4009=)
|
rs752752496
|
|
|
NM_206933.4(USH2A):c.1214del (p.Asn405fs)
|
rs750228923
|
|
|
NM_206933.4(USH2A):c.12232G>T (p.Glu4078Ter)
|
rs988693758
|
|
|
NM_206933.4(USH2A):c.12234_12235del (p.Asn4079fs)
|
rs398124618
|
|
|
NM_206933.4(USH2A):c.12265G>A (p.Glu4089Lys)
|
rs1658179050
|
|
|
NM_206933.4(USH2A):c.12333dup (p.Gly4112fs)
|
rs1657996197
|
|
|
NM_206933.4(USH2A):c.1236G>C (p.Trp412Cys)
|
rs757525434
|
|
|
NM_206933.4(USH2A):c.12398A>T (p.Glu4133Val)
|
rs1657992951
|
|
|
NM_206933.4(USH2A):c.12560G>T (p.Arg4187Leu)
|
rs147304271
|
|
|
NM_206933.4(USH2A):c.12582C>T (p.Cys4194=)
|
rs1571949553
|
|
|
NM_206933.4(USH2A):c.12586G>A (p.Glu4196Lys)
|
rs770065010
|
|
|
NM_206933.4(USH2A):c.1258G>A (p.Gly420Ser)
|
rs2037680211
|
|
|
NM_206933.4(USH2A):c.12743A>G (p.His4248Arg)
|
rs145830318
|
|
|
NM_206933.4(USH2A):c.12910G>A (p.Glu4304Lys)
|
rs1657961774
|
|
|
NM_206933.4(USH2A):c.12926T>G (p.Phe4309Cys)
|
rs1657960533
|
|
|
NM_206933.4(USH2A):c.13126T>G (p.Trp4376Gly)
|
rs775490668
|
|
|
NM_206933.4(USH2A):c.13193C>G (p.Ser4398Cys)
|
rs144200261
|
|
|
NM_206933.4(USH2A):c.13202G>T (p.Gly4401Val)
|
rs763576540
|
|
|
NM_206933.4(USH2A):c.13207_13208del (p.Gly4403fs)
|
rs746447649
|
|
|
NM_206933.4(USH2A):c.13222G>T (p.Val4408Phe)
|
rs111033500
|
|
|
NM_206933.4(USH2A):c.13390T>C (p.Trp4464Arg)
|
rs1403832675
|
|
|
NM_206933.4(USH2A):c.13444G>A (p.Asp4482Asn)
|
rs1657930957
|
|
|
NM_206933.4(USH2A):c.13586C>G (p.Pro4529Arg)
|
rs754560573
|
|
|
NM_206933.4(USH2A):c.13625C>G (p.Ala4542Gly)
|
rs775560370
|
|
|
NM_206933.4(USH2A):c.13740A>G (p.Ile4580Met)
|
rs1416382135
|
|
|
NM_206933.4(USH2A):c.13805T>C (p.Phe4602Ser)
|
rs574442439
|
|
|
NM_206933.4(USH2A):c.13811+3A>G
|
rs760716728
|
|
|
NM_206933.4(USH2A):c.13820T>A (p.Ile4607Lys)
|
rs764431065
|
|
|
NM_206933.4(USH2A):c.13907C>T (p.Pro4636Leu)
|
rs150600947
|
|
|
NM_206933.4(USH2A):c.13979C>A (p.Pro4660Gln)
|
rs761367363
|
|
|
NM_206933.4(USH2A):c.14225C>G (p.Thr4742Arg)
|
rs370157230
|
|
|
NM_206933.4(USH2A):c.14248C>T (p.Gln4750Ter)
|
rs727504867
|
|
|
NM_206933.4(USH2A):c.14288G>A (p.Gly4763Glu)
|
rs781195579
|
|
|
NM_206933.4(USH2A):c.14434A>T (p.Asn4812Tyr)
|
rs746985615
|
|
|
NM_206933.4(USH2A):c.14512G>A (p.Gly4838Arg)
|
rs533097255
|
|
|
NM_206933.4(USH2A):c.14513G>A (p.Gly4838Glu)
|
rs41315587
|
|
|
NM_206933.4(USH2A):c.14531C>A (p.Thr4844Lys)
|
rs200570742
|
|
|
NM_206933.4(USH2A):c.14537C>G (p.Ser4846Cys)
|
rs781558053
|
|
|
NM_206933.4(USH2A):c.14609G>A (p.Cys4870Tyr)
|
rs2102642261
|
|
|
NM_206933.4(USH2A):c.14838G>T (p.Val4946=)
|
rs949583594
|
|
|
NM_206933.4(USH2A):c.14859C>T (p.Asp4953=)
|
rs1571923764
|
|
|
NM_206933.4(USH2A):c.14876G>A (p.Gly4959Asp)
|
rs1656647412
|
|
|
NM_206933.4(USH2A):c.14923A>G (p.Ser4975Gly)
|
rs147514366
|
|
|
NM_206933.4(USH2A):c.14961G>T (p.Ala4987=)
|
rs568581229
|
|
|
NM_206933.4(USH2A):c.15020C>T (p.Pro5007Leu)
|
rs1237333884
|
|
|
NM_206933.4(USH2A):c.15044C>T (p.Thr5015Ile)
|
rs1029854359
|
|
|
NM_206933.4(USH2A):c.15089C>A (p.Ser5030Ter)
|
rs758660532
|
|
|
NM_206933.4(USH2A):c.15199del (p.Ile5067fs)
|
rs2102630527
|
|
|
NM_206933.4(USH2A):c.15208G>T (p.Glu5070Ter)
|
rs1426135314
|
|
|
NM_206933.4(USH2A):c.15322C>T (p.Arg5108Trp)
|
rs746098518
|
|
|
NM_206933.4(USH2A):c.15380C>T (p.Pro5127Leu)
|
rs201513512
|
|
|
NM_206933.4(USH2A):c.15428G>A (p.Arg5143His)
|
rs111033435
|
|
|
NM_206933.4(USH2A):c.15563G>C (p.Ser5188Thr)
|
rs779531682
|
|
|
NM_206933.4(USH2A):c.1588A>G (p.Thr530Ala)
|
rs2037620114
|
|
|
NM_206933.4(USH2A):c.1648G>C (p.Asp550His)
|
rs727504805
|
|
|
NM_206933.4(USH2A):c.1679del (p.Pro560fs)
|
rs773539640
|
|
|
NM_206933.4(USH2A):c.1724G>A (p.Cys575Tyr)
|
rs483353054
|
|
|
NM_206933.4(USH2A):c.182C>A (p.Pro61Gln)
|
rs938662688
|
|
|
NM_206933.4(USH2A):c.188G>C (p.Arg63Pro)
|
rs369806765
|
|
|
NM_206933.4(USH2A):c.1891G>C (p.Asp631His)
|
rs552400144
|
|
|
NM_206933.4(USH2A):c.2002G>A (p.Val668Met)
|
rs1404273822
|
|
|
NM_206933.4(USH2A):c.2149T>A (p.Cys717Ser)
|
rs1304016981
|
|
|
NM_206933.4(USH2A):c.2210G>A (p.Arg737Gln)
|
rs778957703
|
|
|
NM_206933.4(USH2A):c.2223T>G (p.Asp741Glu)
|
rs1487392425
|
|
|
NM_206933.4(USH2A):c.236_239dup (p.Gln81fs)
|
rs1553258097
|
|
|
NM_206933.4(USH2A):c.2514A>G (p.Gln838=)
|
rs969374126
|
|
|
NM_206933.4(USH2A):c.253A>G (p.Ile85Val)
|
rs770983063
|
|
|
NM_206933.4(USH2A):c.2621T>A (p.Val874Glu)
|
rs2036055708
|
|
|
NM_206933.4(USH2A):c.2809+1G>C
|
rs759433119
|
|
|
NM_206933.4(USH2A):c.2857T>C (p.Cys953Arg)
|
rs762059922
|
|
|
NM_206933.4(USH2A):c.2898del (p.Thr967fs)
|
rs397518008
|
|
|
NM_206933.4(USH2A):c.2920G>A (p.Asp974Asn)
|
rs540564733
|
|
|
NM_206933.4(USH2A):c.3026C>T (p.Ala1009Val)
|
rs150729680
|
|
|
NM_206933.4(USH2A):c.3095G>A (p.Cys1032Tyr)
|
rs762711963
|
|
|
NM_206933.4(USH2A):c.3187_3188del (p.Gln1063fs)
|
rs886039450
|
|
|
NM_206933.4(USH2A):c.3405G>A (p.Arg1135=)
|
rs372843685
|
|
|
NM_206933.4(USH2A):c.3409G>A (p.Val1137Ile)
|
rs914071757
|
|
|
NM_206933.4(USH2A):c.3678G>A (p.Gly1226=)
|
rs376090043
|
|
|
NM_206933.4(USH2A):c.3715G>A (p.Ala1239Thr)
|
rs373698501
|
|
|
NM_206933.4(USH2A):c.3724C>T (p.Pro1242Ser)
|
rs755849364
|
|
|
NM_206933.4(USH2A):c.3783A>G (p.Val1261=)
|
rs200698585
|
|
|
NM_206933.4(USH2A):c.3812-3_3837dup
|
rs780071028
|
|
|
NM_206933.4(USH2A):c.3884G>A (p.Arg1295Gln)
|
rs372993160
|
|
|
NM_206933.4(USH2A):c.3884G>T (p.Arg1295Leu)
|
rs372993160
|
|
|
NM_206933.4(USH2A):c.4027A>C (p.Asn1343His)
|
rs754634823
|
|
|
NM_206933.4(USH2A):c.4133_4134dup (p.Asn1379fs)
|
rs397518015
|
|
|
NM_206933.4(USH2A):c.4189_4193dup (p.Ile1399fs)
|
rs1553313308
|
|
|
NM_206933.4(USH2A):c.4222C>T (p.Gln1408Ter)
|
rs746551311
|
|
|
NM_206933.4(USH2A):c.4251G>T (p.Gln1417His)
|
rs2102460239
|
|
|
NM_206933.4(USH2A):c.4252-15dup
|
rs770949401
|
|
|
NM_206933.4(USH2A):c.4328C>T (p.Thr1443Ile)
|
rs772742405
|
|
|
NM_206933.4(USH2A):c.432G>A (p.Leu144=)
|
rs760787084
|
|
|
NM_206933.4(USH2A):c.4338_4339del (p.Cys1447fs)
|
rs111033367
|
|
|
NM_206933.4(USH2A):c.4481A>T (p.Asn1494Ile)
|
rs2034357761
|
|
|
NM_206933.4(USH2A):c.4558A>T (p.Ile1520Phe)
|
rs770790346
|
|
|
NM_206933.4(USH2A):c.4714C>G (p.Leu1572Val)
|
rs111033333
|
|
|
NM_206933.4(USH2A):c.486-1G>C
|
rs876657730
|
|
|
NM_206933.4(USH2A):c.4861A>G (p.Ile1621Val)
|
rs2032219588
|
|
|
NM_206933.4(USH2A):c.4998A>T (p.Gln1666His)
|
rs2032076681
|
|
|
NM_206933.4(USH2A):c.5162G>C (p.Gly1721Ala)
|
rs2032067781
|
|
|
NM_206933.4(USH2A):c.5167+4A>G
|
rs397518019
|
|
|
NM_206933.4(USH2A):c.5170T>G (p.Phe1724Val)
|
rs1381827718
|
|
|
NM_206933.4(USH2A):c.5255T>G (p.Leu1752Trp)
|
rs1469348824
|
|
|
NM_206933.4(USH2A):c.5363A>T (p.Asp1788Val)
|
rs768237382
|
|
|
NM_206933.4(USH2A):c.545_546del (p.Lys182fs)
|
rs780779563
|
|
|
NM_206933.4(USH2A):c.5666A>G (p.Asp1889Gly)
|
rs775803174
|
|
|
NM_206933.4(USH2A):c.566G>A (p.Arg189His)
|
rs747767544
|
|
|
NM_206933.4(USH2A):c.566G>T (p.Arg189Leu)
|
rs747767544
|
|
|
NM_206933.4(USH2A):c.5776+9G>T
|
rs1405078779
|
|
|
NM_206933.4(USH2A):c.5858-1G>A
|
rs397518023
|
|
|
NM_206933.4(USH2A):c.6050-2A>G
|
rs772124060
|
|
|
NM_206933.4(USH2A):c.6118T>G (p.Cys2040Gly)
|
rs878853412
|
|
|
NM_206933.4(USH2A):c.6163+1G>A
|
rs2030617696
|
|
|
NM_206933.4(USH2A):c.6163G>A (p.Ala2055Thr)
|
rs768233523
|
|
|
NM_206933.4(USH2A):c.6325+1G>A
|
rs1293202153
|
|
|
NM_206933.4(USH2A):c.6510T>G (p.Ser2170Arg)
|
rs373604102
|
|
|
NM_206933.4(USH2A):c.6528T>C (p.Tyr2176=)
|
rs560847831
|
|
|
NM_206933.4(USH2A):c.6565A>G (p.Ile2189Val)
|
rs542406401
|
|
|
NM_206933.4(USH2A):c.6601C>T (p.Gln2201Ter)
|
rs794727579
|
|
|
NM_206933.4(USH2A):c.6677G>A (p.Cys2226Tyr)
|
rs562492049
|
|
|
NM_206933.4(USH2A):c.6711C>G (p.Asp2237Glu)
|
rs138959688
|
|
|
NM_206933.4(USH2A):c.6721C>T (p.Pro2241Ser)
|
rs111033412
|
|
|
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met)
|
rs550772689
|
|
|
NM_206933.4(USH2A):c.6741C>T (p.Pro2247=)
|
rs766287712
|
|
|
NM_206933.4(USH2A):c.6874C>T (p.Arg2292Cys)
|
rs727503722
|
|
|
NM_206933.4(USH2A):c.706C>A (p.Pro236Thr)
|
rs762558966
|
|
|
NM_206933.4(USH2A):c.7203G>T (p.Gly2401=)
|
rs769558676
|
|
|
NM_206933.4(USH2A):c.732T>C (p.Gly244=)
|
rs576466805
|
|
|
NM_206933.4(USH2A):c.736A>G (p.Ile246Val)
|
rs746975879
|
|
|
NM_206933.4(USH2A):c.7397C>T (p.Ser2466Phe)
|
rs1665475399
|
|
|
NM_206933.4(USH2A):c.7428C>A (p.Gly2476=)
|
rs150372183
|
|
|
NM_206933.4(USH2A):c.7428C>T (p.Gly2476=)
|
rs150372183
|
|
|
NM_206933.4(USH2A):c.7524del (p.Arg2509fs)
|
rs751176116
|
|
|
NM_206933.4(USH2A):c.7626G>C (p.Leu2542=)
|
rs577063450
|
|
|
NM_206933.4(USH2A):c.7892A>G (p.Glu2631Gly)
|
rs1175968972
|
|
|
NM_206933.4(USH2A):c.7926A>G (p.Ile2642Met)
|
rs1338661803
|
|
|
NM_206933.4(USH2A):c.7932G>A (p.Trp2644Ter)
|
rs1571783742
|
|
|
NM_206933.4(USH2A):c.7939C>T (p.Pro2647Ser)
|
rs1414367127
|
|
|
NM_206933.4(USH2A):c.7950dup (p.Asn2651fs)
|
rs886041502
|
|
|
NM_206933.4(USH2A):c.8003A>G (p.Glu2668Gly)
|
rs267598377
|
|
|
NM_206933.4(USH2A):c.8064T>C (p.Ser2688=)
|
rs1456443971
|
|
|
NM_206933.4(USH2A):c.820C>T (p.Arg274Ter)
|
rs397518036
|
|
|
NM_206933.4(USH2A):c.8224-6T>G
|
rs1664846600
|
|
|
NM_206933.4(USH2A):c.8390C>T (p.Ser2797Leu)
|
rs756866344
|
|
|
NM_206933.4(USH2A):c.848+2T>C
|
rs2102658759
|
|
|
NM_206933.4(USH2A):c.849-2A>G
|
rs2102656326
|
|
|
NM_206933.4(USH2A):c.8672G>T (p.Gly2891Val)
|
rs1664810364
|
|
|
NM_206933.4(USH2A):c.8682-5T>C
|
rs1664495207
|
|
|
NM_206933.4(USH2A):c.8687C>T (p.Thr2896Ile)
|
rs1664494411
|
|
|
NM_206933.4(USH2A):c.8738G>A (p.Ser2913Asn)
|
rs1664492083
|
|
|
NM_206933.4(USH2A):c.8778G>T (p.Glu2926Asp)
|
rs374146074
|
|
|
NM_206933.4(USH2A):c.8787C>G (p.Ala2929=)
|
rs371183424
|
|
|
NM_206933.4(USH2A):c.8798C>A (p.Ala2933Glu)
|
rs780358747
|
|
|
NM_206933.4(USH2A):c.8845+6_8845+9del
|
rs541344995
|
|
|
NM_206933.4(USH2A):c.8896T>A (p.Ser2966Thr)
|
rs1048801397
|
|
|
NM_206933.4(USH2A):c.899C>T (p.Ser300Leu)
|
rs2037715022
|
|
|
NM_206933.4(USH2A):c.9014G>C (p.Ser3005Thr)
|
rs1553268568
|
|
|
NM_206933.4(USH2A):c.9119G>A (p.Trp3040Ter)
|
rs1269642027
|
|
|
NM_206933.4(USH2A):c.9143G>C (p.Gly3048Ala)
|
rs754391322
|
|
|
NM_206933.4(USH2A):c.920_923dup (p.His308fs)
|
rs397518043
|
|
|
NM_206933.4(USH2A):c.926C>T (p.Pro309Leu)
|
rs1359713084
|
|
|
NM_206933.4(USH2A):c.9275T>G (p.Ile3092Arg)
|
rs373286445
|
|
|
NM_206933.4(USH2A):c.9345_9346del (p.Pro3116fs)
|
rs536593247
|
|
|
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter)
|
rs397518048
|
|
|
NM_206933.4(USH2A):c.9459C>A (p.Cys3153Ter)
|
rs73090721
|
|
|
NM_206933.4(USH2A):c.9646C>A (p.Leu3216Met)
|
rs368240096
|
|
|
NM_206933.4(USH2A):c.9669TGG[1] (p.Gly3225del)
|
rs756735388
|
|
|
NM_206933.4(USH2A):c.9739+1G>C
|
rs2102792994
|
|
|
NM_206933.4(USH2A):c.9771T>C (p.Asn3257=)
|
rs755843100
|
|
|
NM_206933.4(USH2A):c.9860_9873del (p.His3287fs)
|
rs1388040238
|
|
|
NM_206933.4(USH2A):c.9958G>T (p.Gly3320Cys)
|
rs1285853856
|
|
|
NR_003051.3(RMRP):n.-10C>A
|
rs572830134
|
|
|
NR_003051.3(RMRP):n.-10C>G
|
rs572830134
|
|
|
NR_003051.3(RMRP):n.-10_-9insACTACTCTGTGAAGCACTACTCTGTGAAGC
|
rs727502776
|
|
|
NR_003051.3(RMRP):n.-11G>A
|
rs545020206
|
|
|
NR_003051.3(RMRP):n.-12A>G
|
rs372044910
|
|
|
NR_003051.3(RMRP):n.-15T>C
|
rs765292137
|
|
|
NR_003051.3(RMRP):n.-18_-17dup
|
rs1554651536
|
|
|
NR_003051.3(RMRP):n.-20C>G
|
rs183974004
|
|
|
NR_003051.3(RMRP):n.-20C>T
|
rs183974004
|
|
|
NR_003051.3(RMRP):n.-20_-10dup
|
rs1554651486
|
|
|
NR_003051.3(RMRP):n.-20_-12dup
|
rs1554651503
|
|
|
NR_003051.3(RMRP):n.-20_-13dup
|
rs1554651512
|
|
|
NR_003051.3(RMRP):n.-20_-3dup
|
rs1554651418
|
|
|
NR_003051.3(RMRP):n.-20_-7dup14
|
rs1823639713
|
|
|
NR_003051.3(RMRP):n.-21_-19dup
|
rs1029136594
|
|
|
NR_003051.3(RMRP):n.-21_-4dup
|
rs1563907881
|
|
|
NR_003051.3(RMRP):n.-21_-9dupACTCTGTGAAGCT
|
rs751921616
|
|
|
NR_003051.3(RMRP):n.-22_-3dup
|
rs1554651411
|
|
|
NR_003051.3(RMRP):n.-23C>A
|
rs188660894
|
|
|
NR_003051.3(RMRP):n.-23_-13dup
|
rs1554651513
|
|
|
NR_003051.3(RMRP):n.-24A>C
|
rs529852688
|
|
|
NR_003051.3(RMRP):n.-24A>G
|
rs529852688
|
|
|
NR_003051.3(RMRP):n.-24A>T
|
rs529852688
|
|
|
NR_003051.3(RMRP):n.-24_-10dup
|
rs727502776
|
|
|
NR_003051.3(RMRP):n.-25_-13dup
|
rs1554651508
|
|
|
NR_003051.3(RMRP):n.-25_-21dup
|
rs1563908297
|
|
|
NR_003051.3(RMRP):n.-25_-6dup
|
rs1554651445
|
|
|
NR_003051.3(RMRP):n.-2G>A
|
rs958637129
|
|
|
NR_003051.3(RMRP):n.-4A>T
|
rs555890962
|
|
|
NR_003051.3(RMRP):n.-55A>G
|
rs12551232
|
|
|
NR_003051.3(RMRP):n.-5G>A
|
rs7024732
|
|
|
NR_003051.3(RMRP):n.-5G>T
|
rs7024732
|
|
|
NR_003051.3(RMRP):n.-6G>C
|
rs191438045
|
|
|
NR_003051.3(RMRP):n.-6G>T
|
rs191438045
|
|
|
NR_003051.3(RMRP):n.-7A>T
|
rs111909453
|
|
|
NR_003051.3(RMRP):n.-88dup
|
rs1052348382
|
|
|
NR_003051.3(RMRP):n.-8G>A
|
rs898955976
|
|
|
NR_003051.3(RMRP):n.-9T>C
|
rs12552387
|
|
|
NR_003051.3(RMRP):n.-9T>G
|
rs12552387
|
|
|
NR_003051.3(RMRP):n.-9_1dup
|
rs752934195
|
|
|
NR_003051.4(RMRP):n.101C>G
|
rs536333075
|
|
|
NR_003051.4(RMRP):n.113C>T
|
rs1479610947
|
|
|
NR_003051.4(RMRP):n.115C>G
|
rs769331218
|
|
|
NR_003051.4(RMRP):n.115C>T
|
rs769331218
|
|
|
NR_003051.4(RMRP):n.117T>G
|
rs1437035543
|
|
|
NR_003051.4(RMRP):n.118_119delAG
|
rs1380611840
|
|
|
NR_003051.4(RMRP):n.121_124delCATT
|
rs1191061440
|
|
|
NR_003051.4(RMRP):n.144G>C
|
rs113967059
|
|
|
NR_003051.4(RMRP):n.147C>A
|
rs757576534
|
|
|
NR_003051.4(RMRP):n.148G>C
|
rs753874439
|
|
|
NR_003051.4(RMRP):n.148G>T
|
rs753874439
|
|
|
NR_003051.4(RMRP):n.152A>G
|
rs534955648
|
|
|
NR_003051.4(RMRP):n.156_172dup
|
rs1587918082
|
|
|
NR_003051.4(RMRP):n.158G>A
|
rs7021463
|
|
|
NR_003051.4(RMRP):n.162C>G
|
rs751373603
|
|
|
NR_003051.4(RMRP):n.165G>A
|
rs1405507797
|
|
|
NR_003051.4(RMRP):n.175G>T
|
rs1823609688
|
|
|
NR_003051.4(RMRP):n.182delG
|
rs1563906794
|
|
|
NR_003051.4(RMRP):n.186G>T
|
rs908555769
|
|
|
NR_003051.4(RMRP):n.187C>A
|
rs1051076135
|
|
|
NR_003051.4(RMRP):n.197C>T
|
rs948931144
|
|
|
NR_003051.4(RMRP):n.1T>C
|
rs188190570
|
|
|
NR_003051.4(RMRP):n.213C>G
|
rs192060920
|
|
|
NR_003051.4(RMRP):n.216A>G
|
rs886041234
|
|
|
NR_003051.4(RMRP):n.220A>G
|
rs936059863
|
|
|
NR_003051.4(RMRP):n.223G>C
|
rs924622406
|
|
|
NR_003051.4(RMRP):n.230C>A
|
rs1169686514
|
|
|
NR_003051.4(RMRP):n.242A>C
|
rs1038523315
|
|
|
NR_003051.4(RMRP):n.243C>T
|
rs912498335
|
|
|
NR_003051.4(RMRP):n.256_265delCTCAGCGCGG
|
rs1383432106
|
|
|
NR_003051.4(RMRP):n.262G>A
|
rs769080777
|
|
|
NR_003051.4(RMRP):n.266C>T
|
rs962412737
|
|
|
NR_003051.4(RMRP):n.267T>C
|
rs557906740
|
|
|
NR_003051.4(RMRP):n.268G>C
|
rs535022008
|
|
|
NR_003051.4(RMRP):n.27A>G
|
rs1554651331
|
|
|
NR_003051.4(RMRP):n.2G>C
|
rs773520232
|
|
|
NR_003051.4(RMRP):n.37C>G
|
rs549085067
|
|
|
NR_003051.4(RMRP):n.3G>C
|
rs905844277
|
|
|
NR_003051.4(RMRP):n.47T>C
|
rs529328233
|
|
|
NR_003051.4(RMRP):n.54dup
|
rs151011853
|
|
|
NR_003051.4(RMRP):n.57C>G
|
rs999349961
|
|
|
NR_003051.4(RMRP):n.63G>A
|
rs544069410
|
|
|
NR_003051.4(RMRP):n.73A>G
|
rs1554651251
|
|
|
NR_003051.4(RMRP):n.7G>C
|
rs552002151
|
|
|
NR_003051.4(RMRP):n.84C>G
|
rs1372572486
|
|
|
NR_003051.4(RMRP):n.84dup
|
rs1222001621
|
|
|
NR_003051.4(RMRP):n.87C>G
|
rs545284014
|
|
|
NR_003051.4(RMRP):n.87C>T
|
rs545284014
|
|
|
NR_003051.4(RMRP):n.89G>A
|
rs1264110860
|
|
|
NR_003051.4(RMRP):n.8T>G
|
rs587781140
|
|
|
NR_003051.4(RMRP):n.97_98dup
|
rs1340624774
|
|