|
NM_001329943.3(KIAA0586):c.1119G>A (p.Ser373=)
|
rs1748971
|
0.99666
|
|
NM_182961.4(SYNE1):c.21904T>G (p.Phe7302Val)
|
rs2147377
|
0.99149
|
|
NM_001329943.3(KIAA0586):c.3166C>G (p.Pro1056Ala)
|
rs1617510
|
0.97670
|
|
NM_001329943.3(KIAA0586):c.2528T>C (p.Leu843Pro)
|
rs1748986
|
0.97574
|
|
NM_182961.4(SYNE1):c.15043T>A (p.Leu5015Met)
|
rs2306916
|
0.82174
|
|
NM_182961.4(SYNE1):c.13786T>A (p.Ser4596Thr)
|
rs6911096
|
0.80856
|
|
NM_182961.4(SYNE1):c.12362A>G (p.Lys4121Arg)
|
rs9479297
|
0.80638
|
|
NM_015046.7(SETX):c.3576T>G (p.Asp1192Glu)
|
rs1185193
|
0.76694
|
|
NM_015046.7(SETX):c.1077T>C (p.Tyr359=)
|
rs9411449
|
0.75774
|
|
NM_016373.4(WWOX):c.516+6T>C
|
rs2303191
|
0.75307
|
|
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg)
|
rs1183768
|
0.68476
|
|
NM_016169.4(SUFU):c.1365+19T>C
|
rs12414407
|
0.68248
|
|
NM_015046.7(SETX):c.4156A>G (p.Ile1386Val)
|
rs543573
|
0.68049
|
|
NM_182961.4(SYNE1):c.10191C>A (p.Gly3397=)
|
rs4407724
|
0.64816
|
|
NM_182961.4(SYNE1):c.19471-18C>T
|
rs6557210
|
0.64435
|
|
NM_182961.4(SYNE1):c.25038T>C (p.Arg8346=)
|
rs2256135
|
0.62211
|
|
NM_182961.4(SYNE1):c.10866T>C (p.Ser3622=)
|
rs9397102
|
0.57769
|
|
NM_182961.4(SYNE1):c.11580+15C>T
|
rs6908392
|
0.57402
|
|
NM_182961.4(SYNE1):c.12180G>T (p.Glu4060Asp)
|
rs4645434
|
0.55815
|
|
NM_182961.4(SYNE1):c.3104T>C (p.Val1035Ala)
|
rs214976
|
0.52364
|
|
NM_016373.4(WWOX):c.1056+191744T>G
|
rs2548861
|
0.51877
|
|
NM_182961.4(SYNE1):c.1047+4T>A
|
rs9397106
|
0.50379
|
|
NM_022464.5(SIL1):c.153A>G (p.Thr51=)
|
rs3088052
|
0.50252
|
|
NM_182961.4(SYNE1):c.9147-13G>A
|
rs214955
|
0.49738
|
|
NM_182961.4(SYNE1):c.12795-12A>G
|
rs9478314
|
0.48867
|
|
NM_182961.4(SYNE1):c.8177+20A>T
|
rs214943
|
0.48837
|
|
NM_016169.4(SUFU):c.182+16C>T
|
rs2274351
|
0.46492
|
|
NM_015046.7(SETX):c.7759A>G (p.Ile2587Val)
|
rs1056899
|
0.44536
|
|
NM_001329943.3(KIAA0586):c.4495+3795T>C
|
rs28535751
|
0.42605
|
|
NM_182961.4(SYNE1):c.24968G>C (p.Gly8323Ala)
|
rs2252755
|
0.36980
|
|
NM_016373.4(WWOX):c.108-12G>T
|
rs67493355
|
0.34450
|
|
NM_001347702.2(SYNE1):c.1458A>G (p.Glu486=)
|
rs2747662
|
0.33426
|
|
NM_015046.7(SETX):c.5563A>G (p.Thr1855Ala)
|
rs2296871
|
0.31596
|
|
NM_015046.7(SETX):c.5811T>C (p.Asp1937=)
|
rs2296869
|
0.31585
|
|
NM_182961.4(SYNE1):c.24825G>A (p.Pro8275=)
|
rs2252748
|
0.29787
|
|
NM_016373.4(WWOX):c.-5C>T
|
rs11545028
|
0.27934
|
|
NM_001077418.3(TMEM231):c.582+17T>A
|
rs2738801
|
0.27293
|
|
NM_182961.4(SYNE1):c.21656+13T>C
|
rs9383976
|
0.26855
|
|
NM_182961.4(SYNE1):c.17346+7G>A
|
rs9383985
|
0.26223
|
|
NM_015046.7(SETX):c.5374+16C>T
|
rs2296872
|
0.24325
|
|
NM_015046.7(SETX):c.5781+12dup
|
rs3831154
|
0.24271
|
|
NM_016373.4(WWOX):c.606-17G>A
|
rs4130513
|
0.24208
|
|
NM_182961.4(SYNE1):c.8384C>T (p.Ala2795Val)
|
rs214950
|
0.23524
|
|
NM_001077418.3(TMEM231):c.-6G>C
|
rs3743602
|
0.21908
|
|
NM_182961.4(SYNE1):c.20530-14G>A
|
rs2296254
|
0.19082
|
|
NM_001378969.1(KCND3):c.1269+15C>A
|
rs3738298
|
0.16477
|
|
NM_016169.4(SUFU):c.1299T>C (p.Ile433=)
|
rs17114803
|
0.14628
|
|
NM_182961.4(SYNE1):c.17745C>T (p.His5915=)
|
rs12664753
|
0.14557
|
|
NM_001382391.1(CSPP1):c.2392-17C>T
|
rs58448590
|
0.13329
|
|
NM_182961.4(SYNE1):c.22671C>T (p.Ile7557=)
|
rs3798756
|
0.13297
|
|
NM_001382391.1(CSPP1):c.2630G>A (p.Arg877His)
|
rs16933182
|
0.12797
|
|
NM_182961.4(SYNE1):c.12276C>T (p.Leu4092=)
|
rs71575926
|
0.12377
|
|
NM_015046.7(SETX):c.1979C>G (p.Ala660Gly)
|
rs882709
|
0.12168
|
|
NM_182961.4(SYNE1):c.24502G>T (p.Ala8168Ser)
|
rs17082236
|
0.11250
|
|
NM_001077418.3(TMEM231):c.16C>G (p.Leu6Val)
|
rs3743601
|
0.10494
|
|
NM_182961.4(SYNE1):c.26221C>A (p.Leu8741Met)
|
rs2295190
|
0.10350
|
|
NM_182961.4(SYNE1):c.8177+9C>T
|
rs56877632
|
0.09596
|
|
NM_182961.4(SYNE1):c.17202+24G>A
|
rs12662994
|
0.09437
|
|
NM_015046.7(SETX):c.6935+8T>C
|
rs17148873
|
0.09319
|
|
NM_001378969.1(KCND3):c.264C>T (p.Pro88=)
|
rs17221819
|
0.08351
|
|
NM_015046.7(SETX):c.7834A>G (p.Ser2612Gly)
|
rs3739927
|
0.08329
|
|
NM_001077418.3(TMEM231):c.813G>A (p.Val271=)
|
rs2242406
|
0.08287
|
|
NM_001044385.3(TMEM237):c.1096G>T (p.Ala366Ser)
|
rs73989521
|
0.07946
|
|
NM_015046.7(SETX):c.3147C>T (p.His1049=)
|
rs3739921
|
0.07515
|
|
NM_016373.4(WWOX):c.844C>G (p.Pro282Ala)
|
rs3764340
|
0.07330
|
|
NM_182961.4(SYNE1):c.12363G>T (p.Lys4121Asn)
|
rs28385621
|
0.07062
|
|
NM_182961.4(SYNE1):c.3306C>T (p.His1102=)
|
rs17082701
|
0.06632
|
|
NM_182961.4(SYNE1):c.14061G>C (p.Leu4687=)
|
rs3734365
|
0.06565
|
|
NM_000784.4(CYP27A1):c.438G>A (p.Pro146=)
|
rs692003
|
0.06494
|
|
NM_182961.4(SYNE1):c.2653T>G (p.Leu885Val)
|
rs17082709
|
0.06016
|
|
NM_016373.4(WWOX):c.517-108230A>G
|
rs77067228
|
0.05744
|
|
NM_182961.4(SYNE1):c.19104+17A>G
|
rs17082389
|
0.05731
|
|
NM_182961.4(SYNE1):c.26060C>T (p.Thr8687Ile)
|
rs35591210
|
0.05093
|
|
NM_182961.4(SYNE1):c.8163C>T (p.Ser2721=)
|
rs58905396
|
0.05078
|
|
NM_182961.4(SYNE1):c.10145+12T>C
|
rs112401775
|
0.04924
|
|
NM_015046.7(SETX):c.3455T>G (p.Phe1152Cys)
|
rs3739922
|
0.04708
|
|
NM_182961.4(SYNE1):c.5190T>A (p.Asp1730Glu)
|
rs111250109
|
0.04561
|
|
NM_182961.4(SYNE1):c.15597C>G (p.Ala5199=)
|
rs9383987
|
0.04048
|
|
NM_182961.4(SYNE1):c.9954C>T (p.Ser3318=)
|
rs73626656
|
0.03822
|
|
NM_016373.4(WWOX):c.646C>G (p.Leu216Val)
|
rs7201683
|
0.03724
|
|
NM_182961.4(SYNE1):c.14917C>T (p.Leu4973=)
|
rs35085679
|
0.03417
|
|
NM_182961.4(SYNE1):c.13221C>T (p.Asp4407=)
|
rs10499268
|
0.03416
|
|
NM_182961.4(SYNE1):c.22473G>A (p.Leu7491=)
|
rs34891041
|
0.03277
|
|
NM_016373.4(WWOX):c.941G>A (p.Arg314His)
|
rs73572838
|
0.03269
|
|
NM_001382391.1(CSPP1):c.-34C>G
|
rs117210747
|
0.02944
|
|
NM_182961.4(SYNE1):c.12607G>A (p.Glu4203Lys)
|
rs2130262
|
0.02821
|
|
NM_182961.4(SYNE1):c.26002-4A>G
|
rs77220999
|
0.02717
|
|
NM_182961.4(SYNE1):c.12138G>A (p.Gln4046=)
|
rs60344647
|
0.02693
|
|
NM_182961.4(SYNE1):c.17339G>A (p.Arg5780Gln)
|
rs76160752
|
0.02687
|
|
NM_182961.4(SYNE1):c.16277C>T (p.Thr5426Met)
|
rs2306914
|
0.02635
|
|
NM_182961.4(SYNE1):c.22452A>G (p.Ser7484=)
|
rs36044575
|
0.02562
|
|
NM_022464.5(SIL1):c.1029+6T>C
|
rs57028146
|
0.02536
|
|
NM_022464.5(SIL1):c.394A>C (p.Lys132Gln)
|
rs61745568
|
0.02524
|
|
NM_182961.4(SYNE1):c.6470A>G (p.Lys2157Arg)
|
rs75989452
|
0.02484
|
|
NM_016373.4(WWOX):c.547G>A (p.Asp183Asn)
|
rs74944733
|
0.02435
|
|
NM_182961.4(SYNE1):c.7556+14A>G
|
rs78034368
|
0.02406
|
|
NM_001044385.3(TMEM237):c.9T>G (p.Thr3=)
|
rs6736435
|
0.02349
|
|
NM_001077418.3(TMEM231):c.582+8C>G
|
rs144252983
|
0.02257
|
|
NM_001382391.1(CSPP1):c.3313T>C (p.Trp1105Arg)
|
rs1808140
|
0.02204
|
|
NM_182961.4(SYNE1):c.12442G>C (p.Asp4148His)
|
rs117501809
|
0.02182
|
|
NM_182961.4(SYNE1):c.2527C>T (p.Arg843Cys)
|
rs34610829
|
0.02158
|
|
NM_182961.4(SYNE1):c.11621A>C (p.Lys3874Thr)
|
rs13210127
|
0.02151
|
|
NM_001329943.3(KIAA0586):c.4461T>C (p.Ile1487=)
|
rs11611
|
0.02142
|
|
NM_182961.4(SYNE1):c.3960A>G (p.Thr1320=)
|
rs138705766
|
0.02134
|
|
NM_015046.7(SETX):c.498+20G>A
|
rs73659013
|
0.02106
|
|
NM_001044385.3(TMEM237):c.395+7A>G
|
rs78297522
|
0.01932
|
|
NM_001378969.1(KCND3):c.669G>C (p.Ser223=)
|
rs17215423
|
0.01872
|
|
NM_001378969.1(KCND3):c.375G>A (p.Pro125=)
|
rs2289723
|
0.01862
|
|
NM_016464.5(TMEM138):c.261G>A (p.Val87=)
|
rs35245221
|
0.01861
|
|
NM_015046.7(SETX):c.6106+14G>A
|
rs73661157
|
0.01840
|
|
NM_001077418.3(TMEM231):c.582+3A>G
|
rs114290622
|
0.01823
|
|
NM_182961.4(SYNE1):c.20571A>T (p.Ser6857=)
|
rs34905593
|
0.01683
|
|
NM_000784.4(CYP27A1):c.888A>G (p.Gln296=)
|
rs61733619
|
0.01643
|
|
NM_182961.4(SYNE1):c.17418G>A (p.Thr5806=)
|
rs17082422
|
0.01643
|
|
NM_001382391.1(CSPP1):c.3138A>G (p.Lys1046=)
|
rs76567936
|
0.01632
|
|
NM_182961.4(SYNE1):c.19989T>C (p.His6663=)
|
rs61746395
|
0.01595
|
|
NM_015046.7(SETX):c.3182C>T (p.Pro1061Leu)
|
rs12352982
|
0.01591
|
|
NM_182961.4(SYNE1):c.8336T>G (p.Ile2779Ser)
|
rs77121899
|
0.01555
|
|
NM_016373.4(WWOX):c.108-12del
|
rs149533117
|
0.01497
|
|
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu)
|
rs41272687
|
0.01478
|
|
NM_016373.4(WWOX):c.293C>T (p.Pro98Leu)
|
rs144601717
|
0.01477
|
|
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg)
|
rs61742937
|
0.01445
|
|
NM_182961.4(SYNE1):c.22809C>T (p.Leu7603=)
|
rs34630198
|
0.01334
|
|
NM_016373.4(WWOX):c.1238C>A (p.Ser413Tyr)
|
rs117065412
|
0.01316
|
|
NM_001077418.3(TMEM231):c.177G>C (p.Pro59=)
|
rs78196225
|
0.01307
|
|
NM_001077416.2(TMEM231):c.12G>A (p.Arg4=)
|
rs115739052
|
0.01305
|
|
NM_015046.7(SETX):c.6507G>A (p.Gly2169=)
|
rs34073320
|
0.01300
|
|
NM_182961.4(SYNE1):c.10207G>A (p.Gly3403Ser)
|
rs116758271
|
0.01300
|
|
NM_001329943.3(KIAA0586):c.4560G>A (p.Pro1520=)
|
rs45568037
|
0.01255
|
|
NM_001378969.1(KCND3):c.1323C>T (p.Tyr441=)
|
rs17215458
|
0.01243
|
|
NM_182961.4(SYNE1):c.10598G>A (p.Arg3533His)
|
rs145911138
|
0.01237
|
|
NM_016373.4(WWOX):c.351C>G (p.Leu117=)
|
rs34944716
|
0.01231
|
|
NM_001329943.3(KIAA0586):c.2060-3T>C
|
rs17094553
|
0.01209
|
|
NM_182961.4(SYNE1):c.10145+18C>G
|
rs79796456
|
0.01179
|
|
NM_182961.4(SYNE1):c.22516A>G (p.Ser7506Gly)
|
rs35763277
|
0.01174
|
|
NM_001329943.3(KIAA0586):c.3719T>C (p.Leu1240Ser)
|
rs190271845
|
0.01118
|
|
NM_001378969.1(KCND3):c.1519-4G>T
|
rs72548732
|
0.01109
|
|
NM_182961.4(SYNE1):c.10522T>C (p.Leu3508=)
|
rs62426382
|
0.01086
|
|
NM_001329943.3(KIAA0586):c.2553+11G>A
|
rs78511804
|
0.01083
|
|
NM_001329943.3(KIAA0586):c.1230A>G (p.Gly410=)
|
rs10135645
|
0.01047
|
|
NM_182961.4(SYNE1):c.402+11A>G
|
rs80276170
|
0.01033
|
|
NM_182961.4(SYNE1):c.23743G>A (p.Asp7915Asn)
|
rs76699382
|
0.00969
|
|
NM_182961.4(SYNE1):c.18801C>T (p.Thr6267=)
|
rs116007471
|
0.00967
|
|
NM_016373.4(WWOX):c.885G>A (p.Arg295=)
|
rs79771882
|
0.00946
|
|
NM_182961.4(SYNE1):c.5429C>T (p.Ala1810Val)
|
rs76393834
|
0.00944
|
|
NM_182961.4(SYNE1):c.12061T>C (p.Cys4021Arg)
|
rs111449472
|
0.00935
|
|
NM_182961.4(SYNE1):c.12057G>A (p.Ala4019=)
|
rs144596829
|
0.00916
|
|
NM_182961.4(SYNE1):c.3804G>A (p.Leu1268=)
|
rs139524103
|
0.00909
|
|
NM_182961.4(SYNE1):c.9165C>A (p.Ser3055=)
|
rs117020413
|
0.00908
|
|
NM_182961.4(SYNE1):c.26209G>A (p.Gly8737Ser)
|
rs2295191
|
0.00898
|
|
NM_182961.4(SYNE1):c.10827A>C (p.Gln3609His)
|
rs79486252
|
0.00887
|
|
NM_182961.4(SYNE1):c.10022T>C (p.Val3341Ala)
|
rs138693624
|
0.00841
|
|
NM_001382391.1(CSPP1):c.1977T>C (p.Thr659=)
|
rs114177619
|
0.00835
|
|
NM_182961.4(SYNE1):c.25246+18A>C
|
rs11756479
|
0.00816
|
|
NM_001329943.3(KIAA0586):c.3920A>G (p.Asp1307Gly)
|
rs3783697
|
0.00806
|
|
NM_001382391.1(CSPP1):c.3110-11A>G
|
rs148930801
|
0.00781
|
|
NM_182961.4(SYNE1):c.12079-12G>T
|
rs73783853
|
0.00771
|
|
NM_001044385.3(TMEM237):c.75-13T>C
|
rs116829037
|
0.00764
|
|
NM_182961.4(SYNE1):c.156T>C (p.Asp52=)
|
rs139156106
|
0.00761
|
|
NM_018718.3(CEP41):c.718T>G (p.Cys240Gly)
|
rs113941736
|
0.00760
|
|
NM_022464.5(SIL1):c.239A>G (p.Gln80Arg)
|
rs35581768
|
0.00706
|
|
NM_001329943.3(KIAA0586):c.1097A>T (p.Glu366Val)
|
rs59248588
|
0.00694
|
|
NM_001329943.3(KIAA0586):c.257T>C (p.Met86Thr)
|
rs74055693
|
0.00689
|
|
NM_016373.4(WWOX):c.754C>G (p.Pro252Ala)
|
rs75559202
|
0.00684
|
|
NM_182961.4(SYNE1):c.8164G>A (p.Val2722Ile)
|
rs151091241
|
0.00676
|
|
NM_016373.4(WWOX):c.613C>A (p.His205Asn)
|
rs74860463
|
0.00674
|
|
NM_001329943.3(KIAA0586):c.1439C>T (p.Thr480Ile)
|
rs61745119
|
0.00667
|
|
NM_182961.4(SYNE1):c.13986G>A (p.Lys4662=)
|
rs17082484
|
0.00664
|
|
NM_182961.4(SYNE1):c.16129A>C (p.Met5377Leu)
|
rs35987150
|
0.00658
|
|
NM_015046.7(SETX):c.1968A>G (p.Val656=)
|
rs113997459
|
0.00654
|
|
NM_182961.4(SYNE1):c.9972+19A>G
|
rs77322999
|
0.00654
|
|
NM_015046.7(SETX):c.1957C>A (p.Gln653Lys)
|
rs116333061
|
0.00653
|
|
NM_182961.4(SYNE1):c.9764C>T (p.Ser3255Leu)
|
rs114954026
|
0.00650
|
|
NM_182961.4(SYNE1):c.14107G>A (p.Asp4703Asn)
|
rs116000545
|
0.00649
|
|
NM_182961.4(SYNE1):c.25120-16G>T
|
rs139671151
|
0.00648
|
|
NM_016169.4(SUFU):c.1018G>T (p.Ala340Ser)
|
rs34135067
|
0.00646
|
|
NM_015046.7(SETX):c.7905C>T (p.Ala2635=)
|
rs112201716
|
0.00633
|
|
NM_182961.4(SYNE1):c.3890C>T (p.Ala1297Val)
|
rs35378260
|
0.00633
|
|
NM_001382391.1(CSPP1):c.3220+13A>G
|
rs139491415
|
0.00625
|
|
NM_182961.4(SYNE1):c.1964A>G (p.Gln655Arg)
|
rs9397509
|
0.00615
|
|
NM_015046.7(SETX):c.59G>A (p.Arg20His)
|
rs79740039
|
0.00602
|
|
NM_182961.4(SYNE1):c.15313G>A (p.Asp5105Asn)
|
rs35493783
|
0.00602
|
|
NM_022464.5(SIL1):c.454-6C>T
|
rs58624842
|
0.00601
|
|
NM_182961.4(SYNE1):c.19698G>T (p.Met6566Ile)
|
rs35654757
|
0.00596
|
|
NM_182961.4(SYNE1):c.4757C>A (p.Thr1586Lys)
|
rs77675624
|
0.00591
|
|
NM_182961.4(SYNE1):c.4789-13G>A
|
rs142900784
|
0.00579
|
|
NM_182961.4(SYNE1):c.24952C>T (p.Leu8318Phe)
|
rs141716975
|
0.00570
|
|
NM_182961.4(SYNE1):c.22281C>A (p.Ile7427=)
|
rs139362680
|
0.00566
|
|
NM_000784.4(CYP27A1):c.921G>A (p.Val307=)
|
rs147975335
|
0.00559
|
|
NM_182961.4(SYNE1):c.12000G>A (p.Ala4000=)
|
rs148493518
|
0.00546
|
|
NM_001329943.3(KIAA0586):c.422T>C (p.Met141Thr)
|
rs61735931
|
0.00533
|
|
NM_182961.4(SYNE1):c.9890C>T (p.Thr3297Met)
|
rs150912982
|
0.00528
|
|
NM_182961.4(SYNE1):c.10557A>T (p.Ser3519=)
|
rs73784326
|
0.00525
|
|
NM_016373.4(WWOX):c.358C>T (p.Arg120Trp)
|
rs141361080
|
0.00523
|
|
NM_001044385.3(TMEM237):c.80-11T>C
|
rs76296365
|
0.00503
|
|
NM_001329943.3(KIAA0586):c.1056A>G (p.Ser352=)
|
rs148006211
|
0.00501
|
|
NM_000784.4(CYP27A1):c.524C>T (p.Thr175Met)
|
rs2229381
|
0.00498
|
|
NM_015046.7(SETX):c.1807A>G (p.Asn603Asp)
|
rs116205032
|
0.00493
|
|
NM_016169.4(SUFU):c.1291T>C (p.Leu431=)
|
rs141950577
|
0.00487
|
|
NM_015046.7(SETX):c.4755T>G (p.Pro1585=)
|
rs151237267
|
0.00484
|
|
NM_001382391.1(CSPP1):c.-121A>G
|
rs181470846
|
0.00481
|
|
NM_182961.4(SYNE1):c.1878A>G (p.Gln626=)
|
rs62427038
|
0.00474
|
|
NM_015046.7(SETX):c.2672T>C (p.Val891Ala)
|
rs148181729
|
0.00470
|
|
NM_022464.5(SIL1):c.368C>T (p.Thr123Ile)
|
rs115800498
|
0.00470
|
|
NM_001077418.3(TMEM231):c.498G>A (p.Pro166=)
|
rs201636741
|
0.00468
|
|
NM_018718.3(CEP41):c.208-5A>G
|
rs11765434
|
0.00453
|
|
NM_016373.4(WWOX):c.835C>T (p.Arg279Cys)
|
rs77314072
|
0.00444
|
|
NM_182961.4(SYNE1):c.23315G>A (p.Arg7772Gln)
|
rs138787771
|
0.00432
|
|
NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr)
|
rs151117904
|
0.00431
|
|
NM_182961.4(SYNE1):c.9542G>A (p.Ser3181Asn)
|
rs140508714
|
0.00431
|
|
NM_016169.4(SUFU):c.210T>C (p.Tyr70=)
|
rs35166585
|
0.00430
|
|
NM_182961.4(SYNE1):c.5341A>T (p.Ile1781Phe)
|
rs141796889
|
0.00430
|
|
NM_001382391.1(CSPP1):c.1391C>G (p.Ser464Cys)
|
rs146431326
|
0.00429
|
|
NM_016169.4(SUFU):c.12G>A (p.Leu4=)
|
rs189234140
|
0.00425
|
|
NM_182961.4(SYNE1):c.11187G>T (p.Lys3729Asn)
|
rs143070183
|
0.00415
|
|
NM_022464.5(SIL1):c.189T>G (p.Asp63Glu)
|
rs115591710
|
0.00413
|
|
NM_015046.7(SETX):c.3663G>C (p.Lys1221Asn)
|
rs12344006
|
0.00412
|
|
NM_182961.4(SYNE1):c.2220G>A (p.Met740Ile)
|
rs146001055
|
0.00412
|
|
NM_022464.5(SIL1):c.900C>T (p.Phe300=)
|
rs35080367
|
0.00410
|
|
NM_000784.4(CYP27A1):c.673C>T (p.Arg225Cys)
|
rs114768494
|
0.00403
|
|
NM_015046.7(SETX):c.7371T>C (p.His2457=)
|
rs113071480
|
0.00399
|
|
NM_182961.4(SYNE1):c.10037C>A (p.Ser3346Tyr)
|
rs150170988
|
0.00396
|
|
NM_182961.4(SYNE1):c.10056T>C (p.Ser3352=)
|
rs140861713
|
0.00395
|
|
NM_182961.4(SYNE1):c.20199+16C>T
|
rs114739771
|
0.00395
|
|
NM_182961.4(SYNE1):c.1983C>T (p.Asn661=)
|
rs149670417
|
0.00388
|
|
NM_001378969.1(KCND3):c.957C>G (p.Ser319=)
|
rs61733426
|
0.00386
|
|
NM_182961.4(SYNE1):c.1794A>C (p.Ser598=)
|
rs141424852
|
0.00381
|
|
NM_182961.4(SYNE1):c.6135T>G (p.Ile2045Met)
|
rs116600265
|
0.00379
|
|
NM_001077418.3(TMEM231):c.891G>A (p.Val297=)
|
rs149888762
|
0.00375
|
|
NM_015046.7(SETX):c.3568A>G (p.Lys1190Glu)
|
rs35473230
|
0.00364
|
|
NM_001382391.1(CSPP1):c.100-13A>G
|
rs78076942
|
0.00359
|
|
NM_182961.4(SYNE1):c.3188T>C (p.Val1063Ala)
|
rs141464488
|
0.00359
|
|
NM_015046.7(SETX):c.6108A>G (p.Gly2036=)
|
rs35815657
|
0.00358
|
|
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)
|
rs534542684
|
0.00347
|
|
NM_015046.7(SETX):c.472T>G (p.Leu158Val)
|
rs145438764
|
0.00347
|
|
NM_182961.4(SYNE1):c.11485A>G (p.Thr3829Ala)
|
rs115786671
|
0.00346
|
|
NM_182961.4(SYNE1):c.19991C>T (p.Thr6664Ile)
|
rs35079654
|
0.00339
|
|
NM_182961.4(SYNE1):c.17542-14A>G
|
rs111686341
|
0.00330
|
|
NM_016373.4(WWOX):c.332C>G (p.Thr111Ser)
|
rs114755364
|
0.00326
|
|
NM_182961.4(SYNE1):c.21882C>A (p.Gly7294=)
|
rs35106977
|
0.00325
|
|
NM_001329943.3(KIAA0586):c.4047G>A (p.Ala1349=)
|
rs61729923
|
0.00314
|
|
NM_182961.4(SYNE1):c.2882G>A (p.Arg961Gln)
|
rs76646638
|
0.00314
|
|
NM_001329943.3(KIAA0586):c.1570T>A (p.Leu524Ile)
|
rs61742715
|
0.00313
|
|
NM_015046.7(SETX):c.7724C>T (p.Pro2575Leu)
|
rs34000644
|
0.00304
|
|
NM_182961.4(SYNE1):c.21330C>T (p.Thr7110=)
|
rs75469773
|
0.00302
|
|
NM_001382391.1(CSPP1):c.1798C>G (p.Gln600Glu)
|
rs73693125
|
0.00295
|
|
NM_015046.7(SETX):c.2216G>A (p.Gly739Glu)
|
rs36024203
|
0.00293
|
|
NM_001382391.1(CSPP1):c.484-15T>G
|
rs199671558
|
0.00290
|
|
NM_182961.4(SYNE1):c.11541G>A (p.Met3847Ile)
|
rs74463786
|
0.00290
|
|
NM_182961.4(SYNE1):c.12170C>T (p.Pro4057Leu)
|
rs150179494
|
0.00284
|
|
NM_182961.4(SYNE1):c.2995G>A (p.Glu999Lys)
|
rs148346599
|
0.00283
|
|
NM_016373.4(WWOX):c.816G>T (p.Leu272Phe)
|
rs186745328
|
0.00280
|
|
NM_182961.4(SYNE1):c.4162C>T (p.Arg1388Trp)
|
rs34028822
|
0.00278
|
|
NM_182961.4(SYNE1):c.10281G>T (p.Thr3427=)
|
rs147402839
|
0.00276
|
|
NM_182961.4(SYNE1):c.2177A>G (p.Glu726Gly)
|
rs35297226
|
0.00276
|
|
NM_182961.4(SYNE1):c.5101G>T (p.Ala1701Ser)
|
rs149758808
|
0.00275
|
|
NM_016373.4(WWOX):c.1134C>T (p.Asn378=)
|
rs201088847
|
0.00274
|
|
NM_182961.4(SYNE1):c.13863G>A (p.Thr4621=)
|
rs112266645
|
0.00274
|
|
NM_001329943.3(KIAA0586):c.4629G>A (p.Ser1543=)
|
rs61745066
|
0.00272
|
|
NM_015046.7(SETX):c.2113A>C (p.Ile705Leu)
|
rs34781846
|
0.00272
|
|
NM_182961.4(SYNE1):c.8400C>T (p.Leu2800=)
|
rs114747836
|
0.00268
|
|
NM_182961.4(SYNE1):c.17203-5C>T
|
rs886044642
|
0.00254
|
|
NM_015046.7(SETX):c.4660T>G (p.Cys1554Gly)
|
rs112089123
|
0.00250
|
|
NM_001382391.1(CSPP1):c.3109+18C>T
|
rs139599638
|
0.00242
|
|
NM_182961.4(SYNE1):c.18185C>T (p.Ser6062Leu)
|
rs139790539
|
0.00237
|
|
NM_001382391.1(CSPP1):c.3165T>C (p.Asp1055=)
|
rs10112748
|
0.00231
|
|
NM_015046.7(SETX):c.2401A>G (p.Lys801Glu)
|
rs149718424
|
0.00229
|
|
NM_182961.4(SYNE1):c.24297C>T (p.Ile8099=)
|
rs142222560
|
0.00227
|
|
NM_000784.4(CYP27A1):c.243G>A (p.Leu81=)
|
rs75897848
|
0.00225
|
|
NM_018718.3(CEP41):c.1009T>C (p.Ser337Pro)
|
rs147444165
|
0.00223
|
|
NM_022464.5(SIL1):c.1351G>A (p.Gly451Ser)
|
rs34214251
|
0.00222
|
|
NM_001044385.3(TMEM237):c.136+8G>A
|
rs200618675
|
0.00220
|
|
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala)
|
rs143303575
|
0.00218
|
|
NM_182961.4(SYNE1):c.8230C>A (p.Gln2744Lys)
|
rs145195048
|
0.00217
|
|
NM_015046.7(SETX):c.2981A>G (p.Asp994Gly)
|
rs149546633
|
0.00216
|
|
NM_000784.4(CYP27A1):c.1505C>A (p.Ala502Asp)
|
rs140842830
|
0.00215
|
|
NM_001382391.1(CSPP1):c.815G>A (p.Arg272Gln)
|
rs201609022
|
0.00214
|
|
NM_001044385.3(TMEM237):c.554-15G>A
|
rs144051344
|
0.00213
|
|
NM_001044385.3(TMEM237):c.1134T>C (p.Tyr378=)
|
rs77570029
|
0.00211
|
|
NM_001044385.3(TMEM237):c.194A>G (p.Asn65Ser)
|
rs141817764
|
0.00211
|
|
NM_001044385.3(TMEM237):c.396-14C>T
|
rs74411816
|
0.00210
|
|
NM_182961.4(SYNE1):c.3120T>A (p.Thr1040=)
|
rs147176678
|
0.00205
|
|
NM_001329943.3(KIAA0586):c.974A>T (p.Glu325Val)
|
rs144456198
|
0.00204
|
|
NM_016373.4(WWOX):c.1197G>A (p.Ala399=)
|
rs376935572
|
0.00203
|
|
NM_001329943.3(KIAA0586):c.3283A>C (p.Lys1095Gln)
|
rs140565291
|
0.00202
|
|
NM_001044385.3(TMEM237):c.1090G>A (p.Val364Met)
|
rs138509553
|
0.00199
|
|
NM_001382391.1(CSPP1):c.2590A>C (p.Ser864Arg)
|
rs201259375
|
0.00198
|
|
NM_001329943.3(KIAA0586):c.4519G>A (p.Ala1507Thr)
|
rs140026883
|
0.00196
|
|
NM_001329943.3(KIAA0586):c.4496-16C>T
|
rs111487478
|
0.00195
|
|
NM_182961.4(SYNE1):c.19508A>G (p.Asn6503Ser)
|
rs144762960
|
0.00195
|
|
NM_182961.4(SYNE1):c.23461-6A>C
|
rs145098375
|
0.00194
|
|
NM_182961.4(SYNE1):c.4596C>T (p.Tyr1532=)
|
rs138264334
|
0.00191
|
|
NM_018718.3(CEP41):c.575-12T>C
|
rs186638258
|
0.00185
|
|
NM_001329943.3(KIAA0586):c.698G>A (p.Arg233Lys)
|
rs193056942
|
0.00184
|
|
NM_001382391.1(CSPP1):c.965A>G (p.His322Arg)
|
rs141389465
|
0.00183
|
|
NM_001077418.3(TMEM231):c.91G>A (p.Ala31Thr)
|
rs202215735
|
0.00182
|
|
NM_001378969.1(KCND3):c.627G>C (p.Thr209=)
|
rs149299911
|
0.00182
|
|
NM_001077418.3(TMEM231):c.928T>G (p.Leu310Val)
|
rs182008317
|
0.00181
|
|
NM_001077418.3(TMEM231):c.927C>A (p.Asp309Glu)
|
rs186119649
|
0.00179
|
|
NM_015046.7(SETX):c.7114G>A (p.Asp2372Asn)
|
rs150673589
|
0.00178
|
|
NM_182961.4(SYNE1):c.25856T>C (p.Leu8619Pro)
|
rs139834542
|
0.00178
|
|
NM_182961.4(SYNE1):c.5999G>A (p.Arg2000Lys)
|
rs149146258
|
0.00178
|
|
NM_001077418.3(TMEM231):c.-40C>G
|
rs114889548
|
0.00177
|
|
NM_001077418.3(TMEM231):c.470C>T (p.Ala157Val)
|
rs201036290
|
0.00177
|
|
NM_001329943.3(KIAA0586):c.3553G>A (p.Glu1185Lys)
|
rs200722491
|
0.00175
|
|
NM_001382391.1(CSPP1):c.3285C>T (p.Pro1095=)
|
rs201008264
|
0.00173
|
|
NM_015046.7(SETX):c.3310C>G (p.Gln1104Glu)
|
rs113831637
|
0.00173
|
|
NM_182961.4(SYNE1):c.20646G>A (p.Ser6882=)
|
rs138628147
|
0.00173
|
|
NM_182961.4(SYNE1):c.4107T>A (p.Phe1369Leu)
|
rs149109801
|
0.00172
|
|
NM_182961.4(SYNE1):c.20292T>C (p.Asp6764=)
|
rs73619386
|
0.00171
|
|
NM_182961.4(SYNE1):c.9148C>G (p.Leu3050Val)
|
rs117360770
|
0.00170
|
|
NM_182961.4(SYNE1):c.25091C>T (p.Pro8364Leu)
|
rs148376885
|
0.00169
|
|
NM_182961.4(SYNE1):c.7976C>A (p.Thr2659Asn)
|
rs117480635
|
0.00166
|
|
NM_001044385.3(TMEM237):c.348G>A (p.Ala116=)
|
rs191125006
|
0.00163
|
|
NM_182961.4(SYNE1):c.23002C>G (p.Leu7668Val)
|
rs150589796
|
0.00163
|
|
NM_015046.7(SETX):c.5781+10G>A
|
rs537414669
|
0.00159
|
|
NM_001382391.1(CSPP1):c.632G>T (p.Arg211Leu)
|
rs193231165
|
0.00156
|
|
NM_182961.4(SYNE1):c.7433C>G (p.Ser2478Cys)
|
rs149030452
|
0.00156
|
|
NM_182961.4(SYNE1):c.25617G>A (p.Glu8539=)
|
rs118187988
|
0.00154
|
|
NM_018718.3(CEP41):c.20T>C (p.Ile7Thr)
|
rs147494464
|
0.00152
|
|
NM_016169.4(SUFU):c.528C>T (p.His176=)
|
rs150569584
|
0.00148
|
|
NM_022464.5(SIL1):c.1030-14G>A
|
rs184154914
|
0.00148
|
|
NM_182961.4(SYNE1):c.1141G>A (p.Asp381Asn)
|
rs146366996
|
0.00147
|
|
NM_001077418.3(TMEM231):c.804C>T (p.Phe268=)
|
rs149118721
|
0.00144
|
|
NM_001077418.3(TMEM231):c.710G>C (p.Arg237Thr)
|
rs199813223
|
0.00141
|
|
NM_015046.7(SETX):c.5548+19A>G
|
rs201294921
|
0.00141
|
|
NM_015046.7(SETX):c.7101A>G (p.Gly2367=)
|
rs79233884
|
0.00141
|
|
NM_182961.4(SYNE1):c.23259C>T (p.Arg7753=)
|
rs139590550
|
0.00140
|
|
NM_016169.4(SUFU):c.910+14C>T
|
rs202247757
|
0.00139
|
|
NM_001077418.3(TMEM231):c.719A>G (p.Asp240Gly)
|
rs146210288
|
0.00138
|
|
NM_182961.4(SYNE1):c.23713G>A (p.Glu7905Lys)
|
rs148997223
|
0.00138
|
|
NM_182961.4(SYNE1):c.20288C>T (p.Ser6763Leu)
|
rs115534729
|
0.00137
|
|
NM_001044385.3(TMEM237):c.97C>T (p.Arg33Cys)
|
rs200714434
|
0.00136
|
|
NM_182961.4(SYNE1):c.2881C>T (p.Arg961Trp)
|
rs201146062
|
0.00135
|
|
NM_182961.4(SYNE1):c.18574-13T>C
|
rs148664724
|
0.00134
|
|
NM_182961.4(SYNE1):c.23480C>G (p.Ala7827Gly)
|
rs141315921
|
0.00134
|
|
NM_182961.4(SYNE1):c.3027+17C>T
|
rs375786325
|
0.00134
|
|
NM_182961.4(SYNE1):c.9489A>G (p.Gln3163=)
|
rs35379711
|
0.00133
|
|
NM_182961.4(SYNE1):c.9655G>A (p.Val3219Ile)
|
rs140927945
|
0.00132
|
|
NM_001382391.1(CSPP1):c.3493C>T (p.Pro1165Ser)
|
rs200161440
|
0.00131
|
|
NM_001329943.3(KIAA0586):c.182T>C (p.Leu61Ser)
|
rs183168709
|
0.00129
|
|
NM_015046.7(SETX):c.6936-11A>G
|
rs146193654
|
0.00129
|
|
NM_001077418.3(TMEM231):c.583-20A>T
|
rs375984875
|
0.00128
|
|
NM_001329943.3(KIAA0586):c.4125A>G (p.Gln1375=)
|
rs148016417
|
0.00128
|
|
NM_001378969.1(KCND3):c.117T>C (p.Asp39=)
|
rs12720446
|
0.00128
|
|
NM_016373.4(WWOX):c.1035G>A (p.Ala345=)
|
rs189695070
|
0.00128
|
|
NM_182961.4(SYNE1):c.14221C>T (p.Arg4741Cys)
|
rs150062167
|
0.00128
|
|
NM_182961.4(SYNE1):c.21781C>A (p.Arg7261=)
|
rs138032057
|
0.00127
|
|
NM_182961.4(SYNE1):c.6934T>C (p.Phe2312Leu)
|
rs138004884
|
0.00126
|
|
NM_001382391.1(CSPP1):c.1245+15C>T
|
rs200874913
|
0.00125
|
|
NM_182961.4(SYNE1):c.16538G>A (p.Arg5513Lys)
|
rs138745849
|
0.00125
|
|
NM_015046.7(SETX):c.3809C>T (p.Pro1270Leu)
|
rs144334281
|
0.00122
|
|
NM_022464.5(SIL1):c.865-7C>T
|
rs141796576
|
0.00121
|
|
NM_001329943.3(KIAA0586):c.4430-6A>C
|
rs199732899
|
0.00118
|
|
NM_016169.4(SUFU):c.600C>T (p.Ile200=)
|
rs149513330
|
0.00116
|
|
NM_182961.4(SYNE1):c.6521C>T (p.Thr2174Ile)
|
rs141858284
|
0.00116
|
|
NM_182961.4(SYNE1):c.8973G>A (p.Thr2991=)
|
rs146424389
|
0.00116
|
|
NM_182961.4(SYNE1):c.6946A>G (p.Ile2316Val)
|
rs116721144
|
0.00114
|
|
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=)
|
rs149240122
|
0.00111
|
|
NM_182961.4(SYNE1):c.9651+12G>A
|
rs143173603
|
0.00111
|
|
NM_182961.4(SYNE1):c.22068C>T (p.Thr7356=)
|
rs35686213
|
0.00110
|
|
NM_182961.4(SYNE1):c.18114G>A (p.Ala6038=)
|
rs149923357
|
0.00107
|
|
NM_182961.4(SYNE1):c.13636G>A (p.Val4546Ile)
|
rs4870093
|
0.00106
|
|
NM_182961.4(SYNE1):c.21470G>A (p.Arg7157His)
|
rs34963077
|
0.00106
|
|
NM_182961.4(SYNE1):c.21523-8T>G
|
rs187773880
|
0.00106
|
|
NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr)
|
rs138617999
|
0.00106
|
|
NM_182961.4(SYNE1):c.6339T>C (p.Thr2113=)
|
rs141671123
|
0.00106
|
|
NM_000784.4(CYP27A1):c.646+4C>T
|
rs191313794
|
0.00105
|
|
NM_001077418.3(TMEM231):c.95C>T (p.Ala32Val)
|
rs201181950
|
0.00105
|
|
NM_001329943.3(KIAA0586):c.1130-16A>C
|
rs187748315
|
0.00105
|
|
NM_015046.7(SETX):c.3229G>A (p.Asp1077Asn)
|
rs145097270
|
0.00105
|
|
NM_182961.4(SYNE1):c.12350C>T (p.Thr4117Met)
|
rs146567178
|
0.00105
|
|
NM_182961.4(SYNE1):c.13909G>A (p.Asp4637Asn)
|
rs142388112
|
0.00105
|
|
NM_182961.4(SYNE1):c.12614C>T (p.Ser4205Leu)
|
rs140359400
|
0.00104
|
|
NM_016373.4(WWOX):c.669T>C (p.Asp223=)
|
rs72549408
|
0.00103
|
|
NM_182961.4(SYNE1):c.13101C>T (p.Ile4367=)
|
rs140136749
|
0.00103
|
|
NM_016373.4(WWOX):c.888C>G (p.Ser296=)
|
rs3764341
|
0.00102
|
|
NM_182961.4(SYNE1):c.18204G>C (p.Leu6068Phe)
|
rs138039375
|
0.00102
|
|
NM_182961.4(SYNE1):c.24956G>A (p.Arg8319Gln)
|
rs148008634
|
0.00102
|
|
NM_001382391.1(CSPP1):c.2122A>G (p.Ser708Gly)
|
rs201316149
|
0.00101
|
|
NM_182961.4(SYNE1):c.14452T>A (p.Tyr4818Asn)
|
rs142422990
|
0.00101
|
|
NM_182961.4(SYNE1):c.17827T>C (p.Ser5943Pro)
|
rs147998933
|
0.00101
|
|
NM_182961.4(SYNE1):c.6484A>T (p.Ser2162Cys)
|
rs144435836
|
0.00101
|
|
NM_182961.4(SYNE1):c.14263C>T (p.Leu4755Phe)
|
rs41301343
|
0.00100
|
|
NM_182961.4(SYNE1):c.4031G>A (p.Arg1344Gln)
|
rs144566713
|
0.00100
|
|
NM_182961.4(SYNE1):c.7156A>G (p.Ile2386Val)
|
rs147947903
|
0.00099
|
|
NM_001329943.3(KIAA0586):c.200-14C>A
|
rs373882617
|
0.00098
|
|
NM_001329943.3(KIAA0586):c.600G>A (p.Leu200=)
|
rs61738360
|
0.00098
|
|
NM_182961.4(SYNE1):c.14281A>G (p.Arg4761Gly)
|
rs187910661
|
0.00098
|
|
NM_001329943.3(KIAA0586):c.340+15T>C
|
rs139305633
|
0.00096
|
|
NM_001329943.3(KIAA0586):c.3862G>A (p.Asp1288Asn)
|
rs181413894
|
0.00096
|
|
NM_001382391.1(CSPP1):c.1693G>A (p.Val565Ile)
|
rs199608505
|
0.00096
|
|
NM_182961.4(SYNE1):c.9507+19A>G
|
rs200381107
|
0.00096
|
|
NM_182961.4(SYNE1):c.581+18G>A
|
rs111309750
|
0.00095
|
|
NM_000784.4(CYP27A1):c.1104G>A (p.Val368=)
|
rs151064520
|
0.00093
|
|
NM_001382391.1(CSPP1):c.1061A>G (p.Asp354Gly)
|
rs146127619
|
0.00093
|
|
NM_015046.7(SETX):c.2124T>C (p.Ser708=)
|
rs139236924
|
0.00093
|
|
NM_001077418.3(TMEM231):c.-15C>T
|
rs138060715
|
0.00092
|
|
NM_182961.4(SYNE1):c.6826-6A>G
|
rs183683592
|
0.00091
|
|
NM_001077418.3(TMEM231):c.900T>C (p.Ile300=)
|
rs199628375
|
0.00089
|
|
NM_182961.4(SYNE1):c.11127A>G (p.Glu3709=)
|
rs149260051
|
0.00089
|
|
NM_182961.4(SYNE1):c.22554G>A (p.Gly7518=)
|
rs148240825
|
0.00089
|
|
NM_182961.4(SYNE1):c.24481A>C (p.Asn8161His)
|
rs36215251
|
0.00089
|
|
NM_001329943.3(KIAA0586):c.3663T>G (p.Ser1221=)
|
rs201202020
|
0.00088
|
|
NM_182961.4(SYNE1):c.9530A>G (p.Asp3177Gly)
|
rs149005052
|
0.00086
|
|
NM_000784.4(CYP27A1):c.703G>A (p.Glu235Lys)
|
rs149897566
|
0.00083
|
|
NM_016373.4(WWOX):c.1141C>T (p.Arg381Cys)
|
rs200461412
|
0.00083
|
|
NM_182961.4(SYNE1):c.10145+16G>A
|
rs150983931
|
0.00083
|
|
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys)
|
rs119103248
|
0.00083
|
|
NM_182961.4(SYNE1):c.21486C>T (p.Ser7162=)
|
rs139078338
|
0.00082
|
|
NM_182961.4(SYNE1):c.24881A>G (p.Asp8294Gly)
|
rs138407813
|
0.00082
|
|
NM_016373.4(WWOX):c.1178C>T (p.Thr393Met)
|
rs139253468
|
0.00081
|
|
NM_182961.4(SYNE1):c.10800G>A (p.Leu3600=)
|
rs114858512
|
0.00081
|
|
NM_182961.4(SYNE1):c.11196T>C (p.Ala3732=)
|
rs138528119
|
0.00081
|
|
NM_000784.4(CYP27A1):c.1102G>T (p.Val368Leu)
|
rs145722193
|
0.00080
|
|
NM_001382391.1(CSPP1):c.2539-12T>A
|
rs185726462
|
0.00080
|
|
NM_001382391.1(CSPP1):c.924-11G>A
|
rs149756527
|
0.00080
|
|
NM_015046.7(SETX):c.4982C>G (p.Pro1661Arg)
|
rs146873848
|
0.00080
|
|
NM_182961.4(SYNE1):c.11430G>A (p.Thr3810=)
|
rs137919524
|
0.00080
|
|
NM_182961.4(SYNE1):c.21995A>C (p.His7332Pro)
|
rs151247098
|
0.00080
|
|
NM_182961.4(SYNE1):c.8015T>C (p.Leu2672Pro)
|
rs147870520
|
0.00080
|
|
NM_015046.7(SETX):c.192A>G (p.Leu64=)
|
rs117326462
|
0.00078
|
|
NM_015046.7(SETX):c.5949+5G>A
|
rs374656811
|
0.00078
|
|
NM_016169.4(SUFU):c.412G>A (p.Ala138Thr)
|
rs34406289
|
0.00078
|
|
NM_016373.4(WWOX):c.107+18G>A
|
rs146301453
|
0.00078
|
|
NM_182961.4(SYNE1):c.8238G>A (p.Glu2746=)
|
rs139838755
|
0.00078
|
|
NM_001077418.3(TMEM231):c.471G>A (p.Ala157=)
|
rs375273015
|
0.00077
|
|
NM_001378969.1(KCND3):c.1456A>G (p.Thr486Ala)
|
rs149008060
|
0.00077
|
|
NM_018718.3(CEP41):c.1065C>G (p.Ser355Arg)
|
rs116313397
|
0.00077
|
|
NM_001044385.3(TMEM237):c.778A>G (p.Asn260Asp)
|
rs151163650
|
0.00076
|
|
NM_001378969.1(KCND3):c.1573A>G (p.Met525Val)
|
rs145890206
|
0.00076
|
|
NM_001382391.1(CSPP1):c.3470-20G>T
|
rs148896413
|
0.00076
|
|
NM_015046.7(SETX):c.717A>G (p.Leu239=)
|
rs147125311
|
0.00076
|
|
NM_015046.7(SETX):c.81C>T (p.Ser27=)
|
rs149229231
|
0.00076
|
|
NM_016373.4(WWOX):c.1021C>A (p.Leu341Met)
|
rs201616456
|
0.00076
|
|
NM_016373.4(WWOX):c.410-4A>T
|
rs183410581
|
0.00076
|
|
NM_015046.7(SETX):c.3010A>G (p.Asn1004Asp)
|
rs77984885
|
0.00075
|
|
NM_015046.7(SETX):c.7870G>T (p.Asp2624Tyr)
|
rs141589525
|
0.00073
|
|
NM_022464.5(SIL1):c.1039G>A (p.Glu347Lys)
|
rs73265454
|
0.00073
|
|
NM_182961.4(SYNE1):c.14163C>T (p.Asp4721=)
|
rs3734366
|
0.00073
|
|
NM_182961.4(SYNE1):c.17797G>A (p.Ala5933Thr)
|
rs113962905
|
0.00073
|
|
NM_001077418.3(TMEM231):c.791A>C (p.Glu264Ala)
|
rs199605221
|
0.00071
|
|
NM_001382391.1(CSPP1):c.104A>G (p.Lys35Arg)
|
rs200158932
|
0.00071
|
|
NM_182961.4(SYNE1):c.4008+19G>A
|
rs202076757
|
0.00071
|
|
NM_182961.4(SYNE1):c.7647C>T (p.His2549=)
|
rs113163375
|
0.00071
|
|
NM_182961.4(SYNE1):c.22617C>T (p.Leu7539=)
|
rs111367233
|
0.00070
|
|
NM_016373.4(WWOX):c.605+9T>A
|
rs368853054
|
0.00069
|
|
NM_182961.4(SYNE1):c.12255G>A (p.Gln4085=)
|
rs145401144
|
0.00068
|
|
NM_182961.4(SYNE1):c.24985A>G (p.Ser8329Gly)
|
rs142690727
|
0.00068
|
|
NM_016373.4(WWOX):c.807C>T (p.Asn269=)
|
rs62034095
|
0.00067
|
|
NM_182961.4(SYNE1):c.15907C>T (p.Arg5303Trp)
|
rs149215868
|
0.00067
|
|
NM_001378969.1(KCND3):c.5C>A (p.Ala2Glu)
|
rs201340369
|
0.00066
|
|
NM_182961.4(SYNE1):c.24555C>T (p.Ile8185=)
|
rs201799566
|
0.00066
|
|
NM_001044385.3(TMEM237):c.871A>G (p.Ile291Val)
|
rs202130417
|
0.00063
|
|
NM_016373.4(WWOX):c.468G>T (p.Arg156Ser)
|
rs140817689
|
0.00063
|
|
NM_182961.4(SYNE1):c.14769A>G (p.Glu4923=)
|
rs141057568
|
0.00063
|
|
NM_001329943.3(KIAA0586):c.1583+15G>A
|
rs201295491
|
0.00061
|
|
NM_182961.4(SYNE1):c.21414C>T (p.Ala7138=)
|
rs144904215
|
0.00061
|
|
NM_182961.4(SYNE1):c.22458T>G (p.Asn7486Lys)
|
rs139466191
|
0.00061
|
|
NM_182961.4(SYNE1):c.24349C>T (p.Arg8117Trp)
|
rs144056525
|
0.00061
|
|
NM_182961.4(SYNE1):c.5282A>G (p.Gln1761Arg)
|
rs146244669
|
0.00060
|
|
NM_182961.4(SYNE1):c.5421+9G>T
|
rs376218204
|
0.00060
|
|
NM_015046.7(SETX):c.2282C>T (p.Ser761Leu)
|
rs200153024
|
0.00059
|
|
NM_016464.5(TMEM138):c.461G>A (p.Arg154His)
|
rs147966742
|
0.00059
|
|
NM_182961.4(SYNE1):c.18789G>A (p.Ser6263=)
|
rs150905950
|
0.00059
|
|
NM_001077418.3(TMEM231):c.129C>T (p.Phe43=)
|
rs377440297
|
0.00058
|
|
NM_015046.7(SETX):c.2479A>G (p.Lys827Glu)
|
rs150532677
|
0.00058
|
|
NM_182961.4(SYNE1):c.1391A>G (p.His464Arg)
|
rs141397112
|
0.00058
|
|
NM_182961.4(SYNE1):c.3074A>T (p.Asp1025Val)
|
rs143093185
|
0.00058
|
|
NM_182961.4(SYNE1):c.5807A>G (p.His1936Arg)
|
rs112744561
|
0.00058
|
|
NM_182961.4(SYNE1):c.3536A>C (p.Glu1179Ala)
|
rs117461489
|
0.00057
|
|
NM_001329943.3(KIAA0586):c.4482_4483del (p.Val1496fs)
|
rs777199366
|
0.00056
|
|
NM_001382391.1(CSPP1):c.1023-20del
|
rs550798896
|
0.00056
|
|
NM_016464.5(TMEM138):c.102T>A (p.Thr34=)
|
rs139387935
|
0.00056
|
|
NM_182961.4(SYNE1):c.1038T>C (p.Asp346=)
|
rs144105769
|
0.00056
|
|
NM_182961.4(SYNE1):c.3669+10T>C
|
rs187598275
|
0.00056
|
|
NM_182961.4(SYNE1):c.7458A>G (p.Gln2486=)
|
rs139070088
|
0.00056
|
|
NM_182961.4(SYNE1):c.10396C>G (p.Leu3466Val)
|
rs150637898
|
0.00055
|
|
NM_182961.4(SYNE1):c.26001+8A>C
|
rs145939118
|
0.00055
|
|
NM_001329943.3(KIAA0586):c.2944+8A>C
|
rs571616049
|
0.00054
|
|
NM_016373.4(WWOX):c.957C>T (p.Asn319=)
|
rs144417100
|
0.00054
|
|
NM_182961.4(SYNE1):c.15337G>A (p.Val5113Ile)
|
rs139170018
|
0.00054
|
|
NM_182961.4(SYNE1):c.1730-7G>A
|
rs367603152
|
0.00054
|
|
NM_182961.4(SYNE1):c.3395+17C>T
|
rs183904423
|
0.00054
|
|
NM_000784.4(CYP27A1):c.276C>T (p.Tyr92=)
|
rs141519183
|
0.00053
|
|
NM_001329943.3(KIAA0586):c.3688T>C (p.Leu1230=)
|
rs143158234
|
0.00053
|
|
NM_001329943.3(KIAA0586):c.94dup (p.His32fs)
|
rs555421894
|
0.00053
|
|
NM_015046.7(SETX):c.3336T>C (p.Ala1112=)
|
rs150687078
|
0.00053
|
|
NM_182961.4(SYNE1):c.2697A>G (p.Arg899=)
|
rs75817012
|
0.00053
|
|
NM_182961.4(SYNE1):c.9651+20G>A
|
rs200951972
|
0.00053
|
|
NM_001044385.3(TMEM237):c.251A>G (p.Gln84Arg)
|
rs373811074
|
0.00052
|
|
NM_001382391.1(CSPP1):c.3157-15A>G
|
rs199558831
|
0.00052
|
|
NM_015046.7(SETX):c.4197A>G (p.Thr1399=)
|
rs148078248
|
0.00052
|
|
NM_022464.5(SIL1):c.573G>A (p.Lys191=)
|
rs148927511
|
0.00052
|
|
NM_182961.4(SYNE1):c.5125C>A (p.Gln1709Lys)
|
rs140005424
|
0.00052
|
|
NM_182961.4(SYNE1):c.5259T>C (p.Ile1753=)
|
rs147508177
|
0.00052
|
|
NM_015046.7(SETX):c.3965C>A (p.Thr1322Asn)
|
rs144900653
|
0.00051
|
|
NM_015046.7(SETX):c.5473A>G (p.Thr1825Ala)
|
rs151046729
|
0.00051
|
|
NM_015046.7(SETX):c.7914C>T (p.Phe2638=)
|
rs80296256
|
0.00051
|
|
NM_016373.4(WWOX):c.60G>C (p.Pro20=)
|
rs376165565
|
0.00051
|
|
NM_182961.4(SYNE1):c.24827C>G (p.Ala8276Gly)
|
rs142985368
|
0.00051
|
|
NM_182961.4(SYNE1):c.9394A>G (p.Ser3132Gly)
|
rs138481762
|
0.00051
|
|
NM_182961.4(SYNE1):c.17542-7G>A
|
rs199762799
|
0.00050
|
|
NM_182961.4(SYNE1):c.5360A>G (p.Glu1787Gly)
|
rs201366911
|
0.00050
|
|
NM_001329943.3(KIAA0586):c.4160C>T (p.Thr1387Ile)
|
rs376795880
|
0.00049
|
|
NM_182961.4(SYNE1):c.16850G>A (p.Arg5617Gln)
|
rs141550859
|
0.00049
|
|
NM_182961.4(SYNE1):c.4461+15C>T
|
rs757969745
|
0.00049
|
|
NM_001329943.3(KIAA0586):c.1522A>G (p.Ile508Val)
|
rs61745095
|
0.00048
|
|
NM_001329943.3(KIAA0586):c.1653T>C (p.Ile551=)
|
rs374601841
|
0.00048
|
|
NM_016373.4(WWOX):c.517-12C>T
|
rs373188700
|
0.00047
|
|
NM_016373.4(WWOX):c.1203C>T (p.Ser401=)
|
rs201428060
|
0.00046
|
|
NM_182961.4(SYNE1):c.14091G>T (p.Met4697Ile)
|
rs141141950
|
0.00046
|
|
NM_182961.4(SYNE1):c.21002A>G (p.Lys7001Arg)
|
rs145075161
|
0.00046
|
|
NM_182961.4(SYNE1):c.7713-12C>T
|
rs550804556
|
0.00046
|
|
NM_182961.4(SYNE1):c.976T>C (p.Trp326Arg)
|
rs146668256
|
0.00046
|
|
NM_182961.4(SYNE1):c.24488T>C (p.Ile8163Thr)
|
rs139643725
|
0.00045
|
|
NM_182961.4(SYNE1):c.21149G>A (p.Arg7050Gln)
|
rs143639400
|
0.00043
|
|
NM_016464.5(TMEM138):c.247A>G (p.Ile83Val)
|
rs200399046
|
0.00042
|
|
NM_182961.4(SYNE1):c.23260G>A (p.Val7754Ile)
|
rs150550013
|
0.00042
|
|
NM_001044385.3(TMEM237):c.66T>A (p.Pro22=)
|
rs370010097
|
0.00041
|
|
NM_001077418.3(TMEM231):c.309+13C>A
|
rs146945255
|
0.00041
|
|
NM_001244189.2(KIAA0586):c.5T>G (p.Phe2Cys)
|
rs551740936
|
0.00041
|
|
NM_015046.7(SETX):c.263A>G (p.Tyr88Cys)
|
rs149276791
|
0.00041
|
|
NM_018718.3(CEP41):c.431G>A (p.Ser144Asn)
|
rs145850728
|
0.00041
|
|
NM_182961.4(SYNE1):c.10146-19C>G
|
rs372218555
|
0.00041
|
|
NM_182961.4(SYNE1):c.17640C>T (p.Arg5880=)
|
rs144418713
|
0.00041
|
|
NM_182961.4(SYNE1):c.22913G>A (p.Gly7638Asp)
|
rs142117628
|
0.00041
|
|
NM_182961.4(SYNE1):c.25751A>C (p.Asp8584Ala)
|
rs41291047
|
0.00041
|
|
NM_182961.4(SYNE1):c.2728A>G (p.Ser910Gly)
|
rs141214076
|
0.00041
|
|
NM_001329943.3(KIAA0586):c.1129+11del
|
rs142477754
|
0.00040
|
|
NM_001382391.1(CSPP1):c.51C>T (p.Ala17=)
|
rs370003497
|
0.00040
|
|
NM_022464.5(SIL1):c.933G>A (p.Gly311=)
|
rs61744666
|
0.00040
|
|
NM_182961.4(SYNE1):c.14501G>A (p.Arg4834Gln)
|
rs141883764
|
0.00040
|
|
NM_182961.4(SYNE1):c.2065C>A (p.Arg689=)
|
rs139480065
|
0.00040
|
|
NM_001077418.3(TMEM231):c.7C>G (p.Leu3Val)
|
rs371709760
|
0.00039
|
|
NM_001329943.3(KIAA0586):c.3104G>A (p.Gly1035Asp)
|
rs77860620
|
0.00039
|
|
NM_001329943.3(KIAA0586):c.4325A>G (p.Tyr1442Cys)
|
rs200127338
|
0.00039
|
|
NM_015046.7(SETX):c.3345C>G (p.Ala1115=)
|
rs142020270
|
0.00039
|
|
NM_015046.7(SETX):c.3826C>G (p.Gln1276Glu)
|
rs148604312
|
0.00039
|
|
NM_015046.7(SETX):c.4916A>C (p.Gln1639Pro)
|
rs150918808
|
0.00039
|
|
NM_015046.7(SETX):c.654G>C (p.Lys218Asn)
|
rs117861188
|
0.00039
|
|
NM_016169.4(SUFU):c.1084C>T (p.Arg362Cys)
|
rs36049457
|
0.00039
|
|
NM_016373.4(WWOX):c.173-11T>C
|
rs370729028
|
0.00039
|
|
NM_182961.4(SYNE1):c.12411C>T (p.His4137=)
|
rs751325537
|
0.00039
|
|
NM_182961.4(SYNE1):c.13572C>T (p.Val4524=)
|
rs111511993
|
0.00039
|
|
NM_182961.4(SYNE1):c.181G>A (p.Val61Ile)
|
rs151156420
|
0.00039
|
|
NM_182961.4(SYNE1):c.19692+3G>A
|
rs150304757
|
0.00039
|
|
NM_182961.4(SYNE1):c.6889G>A (p.Gly2297Arg)
|
rs117184249
|
0.00039
|
|
NM_182961.4(SYNE1):c.7854C>T (p.Ser2618=)
|
rs79449810
|
0.00039
|
|
NM_000784.4(CYP27A1):c.958C>T (p.Leu320Phe)
|
rs367855115
|
0.00038
|
|
NM_001378969.1(KCND3):c.1131G>T (p.Thr377=)
|
rs148428571
|
0.00038
|
|
NM_001382391.1(CSPP1):c.1556C>T (p.Pro519Leu)
|
rs200535417
|
0.00038
|
|
NM_015046.7(SETX):c.638C>T (p.Ser213Phe)
|
rs1254442456
|
0.00038
|
|
NM_015046.7(SETX):c.7432A>G (p.Thr2478Ala)
|
rs142303658
|
0.00038
|
|
NM_016373.4(WWOX):c.935C>A (p.Ser312Tyr)
|
rs79399971
|
0.00038
|
|
NM_182961.4(SYNE1):c.12391G>T (p.Gly4131Cys)
|
rs139139296
|
0.00038
|
|
NM_182961.4(SYNE1):c.12564C>T (p.Ser4188=)
|
rs141202420
|
0.00038
|
|
NM_182961.4(SYNE1):c.9807+14C>G
|
rs182453040
|
0.00038
|
|
NM_000784.4(CYP27A1):c.1419C>T (p.Val473=)
|
rs138596741
|
0.00037
|
|
NM_001329943.3(KIAA0586):c.4311A>G (p.Glu1437=)
|
rs536603405
|
0.00037
|
|
NM_015046.7(SETX):c.1693T>C (p.Phe565Leu)
|
rs143982186
|
0.00037
|
|
NM_001378969.1(KCND3):c.1890G>A (p.Arg630=)
|
rs147262533
|
0.00036
|
|
NM_001382391.1(CSPP1):c.3106A>G (p.Lys1036Glu)
|
rs369060106
|
0.00036
|
|
NM_015046.7(SETX):c.5283A>G (p.Gln1761=)
|
rs139063885
|
0.00036
|
|
NM_016373.4(WWOX):c.1240G>A (p.Gly414Ser)
|
rs201606637
|
0.00036
|
|
NM_016373.4(WWOX):c.998G>A (p.Arg333His)
|
rs184773837
|
0.00036
|
|
NM_182961.4(SYNE1):c.15657+5T>A
|
rs199779021
|
0.00036
|
|
NM_182961.4(SYNE1):c.18973-18G>T
|
rs146316647
|
0.00036
|
|
NM_182961.4(SYNE1):c.309+14A>G
|
rs368595280
|
0.00036
|
|
NM_015046.7(SETX):c.4612C>T (p.Arg1538Trp)
|
rs147018359
|
0.00035
|
|
NM_016464.5(TMEM138):c.216C>T (p.Asn72=)
|
rs145939072
|
0.00035
|
|
NM_182961.4(SYNE1):c.17505C>T (p.Leu5835=)
|
rs148731167
|
0.00035
|
|
NM_182961.4(SYNE1):c.22137C>T (p.Asp7379=)
|
rs148556501
|
0.00035
|
|
NM_182961.4(SYNE1):c.25403G>A (p.Arg8468His)
|
rs143049227
|
0.00035
|
|
NM_182961.4(SYNE1):c.8537T>C (p.Leu2846Ser)
|
rs148242740
|
0.00035
|
|
NM_000784.4(CYP27A1):c.891G>T (p.Leu297=)
|
rs144455258
|
0.00034
|
|
NM_001044385.3(TMEM237):c.475A>G (p.Thr159Ala)
|
rs199500256
|
0.00034
|
|
NM_001329943.3(KIAA0586):c.3781+8A>G
|
rs368737744
|
0.00034
|
|
NM_001378969.1(KCND3):c.641A>G (p.Lys214Arg)
|
rs142744204
|
0.00034
|
|
NM_001382391.1(CSPP1):c.1987A>G (p.Arg663Gly)
|
rs199996939
|
0.00034
|
|
NM_015046.7(SETX):c.4433C>A (p.Ala1478Glu)
|
rs143661911
|
0.00034
|
|
NM_015046.7(SETX):c.7982A>G (p.Lys2661Arg)
|
rs199921065
|
0.00034
|
|
NM_182961.4(SYNE1):c.11218A>G (p.Thr3740Ala)
|
rs144797744
|
0.00034
|
|
NM_182961.4(SYNE1):c.12970C>T (p.Arg4324Cys)
|
rs142258643
|
0.00034
|
|
NM_182961.4(SYNE1):c.26212C>T (p.Arg8738Cys)
|
rs144206837
|
0.00034
|
|
NM_182961.4(SYNE1):c.4732C>T (p.Pro1578Ser)
|
rs199769508
|
0.00034
|
|
NM_001044385.3(TMEM237):c.554-10G>A
|
rs371503069
|
0.00033
|
|
NM_001329943.3(KIAA0586):c.2554-9C>T
|
rs202018500
|
0.00033
|
|
NM_022464.5(SIL1):c.1161G>A (p.Ala387=)
|
rs140171020
|
0.00033
|
|
NM_001329943.3(KIAA0586):c.1407G>T (p.Gln469His)
|
rs200446131
|
0.00032
|
|
NM_016373.4(WWOX):c.1196C>T (p.Ala399Val)
|
rs200815431
|
0.00032
|
|
NM_182961.4(SYNE1):c.19635G>T (p.Arg6545Ser)
|
rs147143947
|
0.00032
|
|
NM_182961.4(SYNE1):c.24723C>G (p.His8241Gln)
|
rs141586001
|
0.00032
|
|
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys)
|
rs121908096
|
0.00031
|
|
NM_001044385.3(TMEM237):c.176G>A (p.Arg59Gln)
|
rs199624987
|
0.00031
|
|
NM_001329943.3(KIAA0586):c.3304+12A>G
|
rs370645135
|
0.00031
|
|
NM_015046.7(SETX):c.2955G>A (p.Ser985=)
|
rs201251074
|
0.00031
|
|
NM_016169.4(SUFU):c.198C>T (p.Asp66=)
|
rs189500468
|
0.00031
|
|
NM_182961.4(SYNE1):c.12609G>A (p.Glu4203=)
|
rs186937478
|
0.00031
|
|
NM_182961.4(SYNE1):c.12953C>T (p.Thr4318Met)
|
rs200825287
|
0.00031
|
|
NM_182961.4(SYNE1):c.20730G>C (p.Leu6910=)
|
rs367864272
|
0.00031
|
|
NM_182961.4(SYNE1):c.4189G>A (p.Glu1397Lys)
|
rs149918889
|
0.00031
|
|
NM_182961.4(SYNE1):c.9091A>G (p.Arg3031Gly)
|
rs144643941
|
0.00031
|
|
NM_001044385.3(TMEM237):c.405G>A (p.Gln135=)
|
rs370418884
|
0.00030
|
|
NM_015046.7(SETX):c.4096T>C (p.Ser1366Pro)
|
rs140147684
|
0.00030
|
|
NM_182961.4(SYNE1):c.11343C>T (p.Gly3781=)
|
rs150121030
|
0.00030
|
|
NM_182961.4(SYNE1):c.21782G>A (p.Arg7261Gln)
|
rs61742716
|
0.00030
|
|
NM_182961.4(SYNE1):c.6920C>T (p.Thr2307Ile)
|
rs141049001
|
0.00030
|
|
NM_001077418.3(TMEM231):c.139+47C>A
|
rs200063331
|
0.00029
|
|
NM_001329943.3(KIAA0586):c.2503C>G (p.Leu835Val)
|
rs113040775
|
0.00029
|
|
NM_001329943.3(KIAA0586):c.2735C>T (p.Pro912Leu)
|
rs139493302
|
0.00029
|
|
NM_001329943.3(KIAA0586):c.3407T>C (p.Ile1136Thr)
|
rs200148591
|
0.00029
|
|
NM_001329943.3(KIAA0586):c.4326C>T (p.Tyr1442=)
|
rs139175231
|
0.00029
|
|
NM_016169.4(SUFU):c.318-17C>A
|
rs201198734
|
0.00029
|
|
NM_016373.4(WWOX):c.1142G>A (p.Arg381His)
|
rs202002431
|
0.00029
|
|
NM_016373.4(WWOX):c.552C>T (p.Leu184=)
|
rs199715254
|
0.00029
|
|
NM_018718.3(CEP41):c.423-18C>A
|
rs371925259
|
0.00029
|
|
NM_022464.5(SIL1):c.984C>T (p.Leu328=)
|
rs368666457
|
0.00029
|
|
NM_182961.4(SYNE1):c.16110C>A (p.His5370Gln)
|
rs138277154
|
0.00029
|
|
NM_182961.4(SYNE1):c.18870C>T (p.Ser6290=)
|
rs138173087
|
0.00029
|
|
NM_182961.4(SYNE1):c.19730G>A (p.Arg6577Gln)
|
rs150387338
|
0.00029
|
|
NM_182961.4(SYNE1):c.23C>T (p.Ser8Phe)
|
rs139600654
|
0.00029
|
|
NM_182961.4(SYNE1):c.24660C>T (p.His8220=)
|
rs150811468
|
0.00029
|
|
NM_182961.4(SYNE1):c.3271C>T (p.Arg1091Trp)
|
rs147841761
|
0.00029
|
|
NM_182961.4(SYNE1):c.7122G>A (p.Glu2374=)
|
rs141883657
|
0.00029
|
|
NM_182961.4(SYNE1):c.8546T>C (p.Val2849Ala)
|
rs375079396
|
0.00029
|
|
NM_016464.5(TMEM138):c.327C>T (p.Ser109=)
|
rs201318247
|
0.00028
|
|
NM_018718.3(CEP41):c.422+7G>A
|
rs190680511
|
0.00028
|
|
NM_022464.5(SIL1):c.1167C>T (p.Pro389=)
|
rs199890503
|
0.00028
|
|
NM_022464.5(SIL1):c.1206C>T (p.Gly402=)
|
rs146164392
|
0.00028
|
|
NM_182961.4(SYNE1):c.5170T>C (p.Phe1724Leu)
|
rs141996707
|
0.00028
|
|
NM_000784.4(CYP27A1):c.148G>A (p.Val50Ile)
|
rs149101812
|
0.00027
|
|
NM_001329943.3(KIAA0586):c.1254-13T>C
|
rs368443727
|
0.00027
|
|
NM_001378969.1(KCND3):c.1959C>T (p.Ser653=)
|
rs147087785
|
0.00027
|
|
NM_182961.4(SYNE1):c.12023C>A (p.Ala4008Asp)
|
rs137985190
|
0.00027
|
|
NM_182961.4(SYNE1):c.12529-12G>A
|
rs367782368
|
0.00027
|
|
NM_182961.4(SYNE1):c.3396-17T>A
|
rs144838502
|
0.00027
|
|
NM_182961.4(SYNE1):c.7435A>G (p.Lys2479Glu)
|
rs188146577
|
0.00027
|
|
NM_182961.4(SYNE1):c.9420G>A (p.Ala3140=)
|
rs188913729
|
0.00027
|
|
NM_001044385.3(TMEM237):c.439G>A (p.Val147Ile)
|
rs200531617
|
0.00026
|
|
NM_001044385.3(TMEM237):c.944-16T>C
|
rs369720243
|
0.00026
|
|
NM_001077418.3(TMEM231):c.79C>T (p.Leu27=)
|
rs370607340
|
0.00026
|
|
NM_001329943.3(KIAA0586):c.202T>A (p.Ser68Thr)
|
rs147119902
|
0.00026
|
|
NM_001382391.1(CSPP1):c.1094-11C>T
|
rs753835152
|
0.00026
|
|
NM_001382391.1(CSPP1):c.1497-3C>T
|
rs184342035
|
0.00026
|
|
NM_015046.7(SETX):c.2446A>G (p.Thr816Ala)
|
rs369470593
|
0.00026
|
|
NM_015046.7(SETX):c.4090A>G (p.Arg1364Gly)
|
rs142134306
|
0.00026
|
|
NM_015046.7(SETX):c.5998C>G (p.Gln2000Glu)
|
rs142917412
|
0.00026
|
|
NM_016373.4(WWOX):c.713A>G (p.Tyr238Cys)
|
rs142806268
|
0.00026
|
|
NM_182961.4(SYNE1):c.14625G>A (p.Thr4875=)
|
rs140118684
|
0.00026
|
|
NM_182961.4(SYNE1):c.25146C>T (p.Ser8382=)
|
rs151034170
|
0.00026
|
|
NM_182961.4(SYNE1):c.9027G>A (p.Leu3009=)
|
rs148486281
|
0.00026
|
|
NM_182961.4(SYNE1):c.9605G>A (p.Arg3202His)
|
rs146769373
|
0.00026
|
|
NM_001382391.1(CSPP1):c.1497-13T>C
|
rs193022291
|
0.00025
|
|
NM_015046.7(SETX):c.6208+17G>A
|
rs182144319
|
0.00025
|
|
NM_016373.4(WWOX):c.1172A>G (p.Glu391Gly)
|
rs369959670
|
0.00025
|
|
NM_018718.3(CEP41):c.988G>C (p.Ala330Pro)
|
rs368525533
|
0.00025
|
|
NM_182961.4(SYNE1):c.1838C>T (p.Ser613Phe)
|
rs140135976
|
0.00025
|
|
NM_182961.4(SYNE1):c.23791-13C>T
|
rs371245873
|
0.00025
|
|
NM_182961.4(SYNE1):c.866G>C (p.Ser289Thr)
|
rs139190745
|
0.00025
|
|
NM_000784.4(CYP27A1):c.1564G>A (p.Val522Met)
|
rs151117761
|
0.00024
|
|
NM_001077418.3(TMEM231):c.139+42G>A
|
rs375718217
|
0.00024
|
|
NM_001077418.3(TMEM231):c.582C>T (p.Asn194=)
|
rs199776253
|
0.00024
|
|
NM_001329943.3(KIAA0586):c.15G>C (p.Glu5Asp)
|
rs199554737
|
0.00024
|
|
NM_001329943.3(KIAA0586):c.3355A>G (p.Thr1119Ala)
|
rs896789657
|
0.00024
|
|
NM_001329943.3(KIAA0586):c.3374C>T (p.Ala1125Val)
|
rs201898983
|
0.00024
|
|
NM_001382391.1(CSPP1):c.2268A>G (p.Glu756=)
|
rs199962946
|
0.00024
|
|
NM_001382391.1(CSPP1):c.254A>G (p.His85Arg)
|
rs370605967
|
0.00024
|
|
NM_015046.7(SETX):c.5346C>T (p.Ala1782=)
|
rs115071007
|
0.00024
|
|
NM_016373.4(WWOX):c.928C>T (p.Arg310Cys)
|
rs193001955
|
0.00024
|
|
NM_182961.4(SYNE1):c.11355G>A (p.Arg3785=)
|
rs151081036
|
0.00024
|
|
NM_182961.4(SYNE1):c.12225+4G>A
|
rs770448083
|
0.00024
|
|
NM_182961.4(SYNE1):c.16295G>A (p.Arg5432Gln)
|
rs200812806
|
0.00024
|
|
NM_182961.4(SYNE1):c.17867G>A (p.Arg5956His)
|
rs80265744
|
0.00024
|
|
NM_182961.4(SYNE1):c.18091G>A (p.Glu6031Lys)
|
rs142229551
|
0.00024
|
|
NM_182961.4(SYNE1):c.22235G>A (p.Arg7412His)
|
rs200135486
|
0.00024
|
|
NM_182961.4(SYNE1):c.23659G>A (p.Val7887Met)
|
rs143842011
|
0.00024
|
|
NM_182961.4(SYNE1):c.24977-1702G>A
|
rs767684285
|
0.00024
|
|
NM_182961.4(SYNE1):c.26044G>C (p.Gly8682Arg)
|
rs201664645
|
0.00024
|
|
NM_182961.4(SYNE1):c.4471C>G (p.Gln1491Glu)
|
rs144276162
|
0.00024
|
|
NM_182961.4(SYNE1):c.6382-3C>T
|
rs373663183
|
0.00024
|
|
NM_182961.4(SYNE1):c.8550C>T (p.His2850=)
|
rs140565986
|
0.00024
|
|
NM_001382391.1(CSPP1):c.2539-5T>C
|
rs555281942
|
0.00023
|
|
NM_016169.4(SUFU):c.50C>T (p.Ala17Val)
|
rs12780580
|
0.00023
|
|
NM_016464.5(TMEM138):c.128+7G>T
|
rs560650147
|
0.00023
|
|
NM_182961.4(SYNE1):c.21029T>A (p.Val7010Glu)
|
rs141275966
|
0.00023
|
|
NM_182961.4(SYNE1):c.24977-1705G>A
|
rs375931512
|
0.00023
|
|
NM_182961.4(SYNE1):c.2569-8C>T
|
rs376033376
|
0.00023
|
|
NM_182961.4(SYNE1):c.5129C>A (p.Ala1710Asp)
|
rs150702500
|
0.00023
|
|
NM_182961.4(SYNE1):c.9377C>G (p.Ser3126Cys)
|
rs139089832
|
0.00023
|
|
NM_182961.4(SYNE1):c.9807+5C>T
|
rs185350092
|
0.00023
|
|
NM_001329943.3(KIAA0586):c.*2C>T
|
rs376691503
|
0.00022
|
|
NM_015046.7(SETX):c.4520A>C (p.Asp1507Ala)
|
rs138195434
|
0.00022
|
|
NM_182961.4(SYNE1):c.1351-14A>T
|
rs767941331
|
0.00022
|
|
NM_182961.4(SYNE1):c.13554C>T (p.Arg4518=)
|
rs115535983
|
0.00022
|
|
NM_182961.4(SYNE1):c.6230+17C>T
|
rs200580133
|
0.00022
|
|
NM_182961.4(SYNE1):c.6428A>G (p.Asp2143Gly)
|
rs189734757
|
0.00022
|
|
NM_182961.4(SYNE1):c.8433C>T (p.Asp2811=)
|
rs375466040
|
0.00022
|
|
NM_000784.4(CYP27A1):c.609G>A (p.Ser203=)
|
rs148132118
|
0.00021
|
|
NM_001044385.3(TMEM237):c.634T>C (p.Trp212Arg)
|
rs200467447
|
0.00021
|
|
NM_001329943.3(KIAA0586):c.3861G>A (p.Glu1287=)
|
rs188676684
|
0.00021
|
|
NM_001329943.3(KIAA0586):c.660C>T (p.His220=)
|
rs555609562
|
0.00021
|
|
NM_001378969.1(KCND3):c.870G>T (p.Arg290=)
|
rs200894990
|
0.00021
|
|
NM_001382391.1(CSPP1):c.3156+6C>T
|
rs375100195
|
0.00021
|
|
NM_001382391.1(CSPP1):c.46T>C (p.Leu16=)
|
rs150924296
|
0.00021
|
|
NM_001382391.1(CSPP1):c.849T>G (p.Ser283Arg)
|
rs201797415
|
0.00021
|
|
NM_015046.7(SETX):c.1391C>T (p.Ser464Leu)
|
rs200614765
|
0.00021
|
|
NM_015046.7(SETX):c.1392A>G (p.Ser464=)
|
rs144164119
|
0.00021
|
|
NM_015046.7(SETX):c.900T>C (p.Leu300=)
|
rs147938250
|
0.00021
|
|
NM_016169.4(SUFU):c.6G>T (p.Ala2=)
|
rs746555296
|
0.00021
|
|
NM_182961.4(SYNE1):c.11253+9G>A
|
rs368012172
|
0.00021
|
|
NM_182961.4(SYNE1):c.12006T>G (p.Leu4002=)
|
rs143529882
|
0.00021
|
|
NM_182961.4(SYNE1):c.15202A>G (p.Lys5068Glu)
|
rs139805184
|
0.00021
|
|
NM_182961.4(SYNE1):c.16296G>A (p.Arg5432=)
|
rs144376043
|
0.00021
|
|
NM_182961.4(SYNE1):c.17974C>G (p.Pro5992Ala)
|
rs200701182
|
0.00021
|
|
NM_182961.4(SYNE1):c.18662C>T (p.Thr6221Ile)
|
rs150335599
|
0.00021
|
|
NM_182961.4(SYNE1):c.26298A>G (p.Pro8766=)
|
rs200880341
|
0.00021
|
|
NM_182961.4(SYNE1):c.3669+4C>G
|
rs376511242
|
0.00021
|
|
NM_182961.4(SYNE1):c.3850C>T (p.Arg1284Trp)
|
rs140780725
|
0.00021
|
|
NM_182961.4(SYNE1):c.4477A>G (p.Ile1493Val)
|
rs139544072
|
0.00021
|
|
NM_182961.4(SYNE1):c.8311G>A (p.Val2771Ile)
|
rs374862218
|
0.00021
|
|
NM_000784.4(CYP27A1):c.1028C>T (p.Thr343Met)
|
rs372194079
|
0.00020
|
|
NM_001044385.3(TMEM237):c.287C>T (p.Ser96Phe)
|
rs376578633
|
0.00020
|
|
NM_001244189.2(KIAA0586):c.3G>A (p.Met1Ile)
|
rs753810786
|
0.00020
|
|
NM_015046.7(SETX):c.4273A>G (p.Lys1425Glu)
|
rs534886444
|
0.00020
|
|
NM_016169.4(SUFU):c.1445C>T (p.Pro482Leu)
|
rs765358771
|
0.00020
|
|
NM_022464.5(SIL1):c.1232G>A (p.Arg411His)
|
rs192255604
|
0.00020
|
|
NM_182961.4(SYNE1):c.15568C>G (p.Gln5190Glu)
|
rs138368397
|
0.00020
|
|
NM_182961.4(SYNE1):c.22346+6G>T
|
rs368678916
|
0.00020
|
|
NM_000784.4(CYP27A1):c.1434C>T (p.Gly478=)
|
rs139279260
|
0.00019
|
|
NM_000784.4(CYP27A1):c.789C>T (p.Pro263=)
|
rs143600636
|
0.00019
|
|
NM_001077418.3(TMEM231):c.140-15C>T
|
rs201518524
|
0.00019
|
|
NM_001077418.3(TMEM231):c.140-28C>G
|
rs375353411
|
0.00019
|
|
NM_001077418.3(TMEM231):c.438+12C>T
|
rs1000442477
|
0.00019
|
|
NM_001329943.3(KIAA0586):c.1237C>T (p.Pro413Ser)
|
rs377325998
|
0.00019
|
|
NM_001329943.3(KIAA0586):c.1896A>G (p.Lys632=)
|
rs760162925
|
0.00019
|
|
NM_001329943.3(KIAA0586):c.2964C>T (p.Gly988=)
|
rs767722181
|
0.00019
|
|
NM_001329943.3(KIAA0586):c.411-1363G>C
|
rs570489575
|
0.00019
|
|
NM_001378969.1(KCND3):c.789C>T (p.Asp263=)
|
rs373264592
|
0.00019
|
|
NM_001382391.1(CSPP1):c.773G>A (p.Arg258Lys)
|
rs199901120
|
0.00019
|
|
NM_015046.7(SETX):c.1464C>T (p.Ala488=)
|
rs139275155
|
0.00019
|
|
NM_015046.7(SETX):c.3297T>C (p.Asp1099=)
|
rs777404209
|
0.00019
|
|
NM_015046.7(SETX):c.7787C>T (p.Ala2596Val)
|
rs200507089
|
0.00019
|
|
NM_015046.7(SETX):c.7991T>C (p.Leu2664Pro)
|
rs143798689
|
0.00019
|
|
NM_015046.7(SETX):c.968G>A (p.Ser323Asn)
|
rs372193033
|
0.00019
|
|
NM_016373.4(WWOX):c.723G>A (p.Gln241=)
|
rs191029309
|
0.00019
|
|
NM_022464.5(SIL1):c.192C>T (p.Ala64=)
|
rs148651377
|
0.00019
|
|
NM_182961.4(SYNE1):c.10003A>G (p.Ile3335Val)
|
rs150814357
|
0.00019
|
|
NM_182961.4(SYNE1):c.10475G>A (p.Arg3492His)
|
rs148522587
|
0.00019
|
|
NM_182961.4(SYNE1):c.10786G>A (p.Val3596Met)
|
rs143034104
|
0.00019
|
|
NM_182961.4(SYNE1):c.13768A>G (p.Asn4590Asp)
|
rs199761238
|
0.00019
|
|
NM_182961.4(SYNE1):c.16182T>G (p.Ser5394=)
|
rs146705789
|
0.00019
|
|
NM_182961.4(SYNE1):c.18480C>T (p.Asp6160=)
|
rs142251671
|
0.00019
|
|
NM_182961.4(SYNE1):c.18881A>T (p.Gln6294Leu)
|
rs140090745
|
0.00019
|
|
NM_182961.4(SYNE1):c.21822T>G (p.Ile7274Met)
|
rs770171807
|
0.00019
|
|
NM_182961.4(SYNE1):c.23216C>A (p.Ser7739Tyr)
|
rs149744490
|
0.00019
|
|
NM_182961.4(SYNE1):c.24642+3A>G
|
rs117346210
|
0.00019
|
|
NM_182961.4(SYNE1):c.7030-16T>C
|
rs202040448
|
0.00019
|
|
NM_182961.4(SYNE1):c.7045C>T (p.Leu2349Phe)
|
rs370016934
|
0.00019
|
|
NM_182961.4(SYNE1):c.7238-11T>C
|
rs200802315
|
0.00019
|
|
NM_182961.4(SYNE1):c.8574A>G (p.Ser2858=)
|
rs139079964
|
0.00019
|
|
NM_001329943.3(KIAA0586):c.3003C>A (p.Asn1001Lys)
|
rs199537542
|
0.00018
|
|
NM_001329943.3(KIAA0586):c.730G>C (p.Glu244Gln)
|
rs376338487
|
0.00018
|
|
NM_001378969.1(KCND3):c.459G>A (p.Ser153=)
|
rs755206508
|
0.00018
|
|
NM_001382391.1(CSPP1):c.2294C>A (p.Ala765Glu)
|
rs376549634
|
0.00018
|
|
NM_016169.4(SUFU):c.1308C>T (p.Thr436=)
|
rs142029957
|
0.00018
|
|
NM_016373.4(WWOX):c.1179G>A (p.Thr393=)
|
rs376293017
|
0.00018
|
|
NM_022464.5(SIL1):c.310C>G (p.Leu104Val)
|
rs150892227
|
0.00018
|
|
NM_182961.4(SYNE1):c.1186C>G (p.Leu396Val)
|
rs138350962
|
0.00018
|
|
NM_182961.4(SYNE1):c.15863G>C (p.Gly5288Ala)
|
rs201313856
|
0.00018
|
|
NM_182961.4(SYNE1):c.22923C>T (p.Ala7641=)
|
rs2296253
|
0.00018
|
|
NM_182961.4(SYNE1):c.24150C>T (p.His8050=)
|
rs140259310
|
0.00018
|
|
NM_182961.4(SYNE1):c.24815G>A (p.Arg8272Gln)
|
rs201029723
|
0.00018
|
|
NM_182961.4(SYNE1):c.5713A>G (p.Ile1905Val)
|
rs143467834
|
0.00018
|
|
NM_001044385.3(TMEM237):c.183C>T (p.Pro61=)
|
rs372100073
|
0.00017
|
|
NM_001077418.3(TMEM231):c.584T>C (p.Ile195Thr)
|
rs201412708
|
0.00017
|
|
NM_001329943.3(KIAA0586):c.2163C>T (p.Gly721=)
|
rs368904420
|
0.00017
|
|
NM_001329943.3(KIAA0586):c.4084A>T (p.Met1362Leu)
|
rs531527716
|
0.00017
|
|
NM_016169.4(SUFU):c.880G>A (p.Gly294Ser)
|
rs143807689
|
0.00017
|
|
NM_022464.5(SIL1):c.699T>C (p.Asn233=)
|
rs140891877
|
0.00017
|
|
NM_182961.4(SYNE1):c.14115C>T (p.Ala4705=)
|
rs377739292
|
0.00017
|
|
NM_182961.4(SYNE1):c.1463+9A>G
|
rs368846118
|
0.00017
|
|
NM_182961.4(SYNE1):c.16084-14G>A
|
rs372051077
|
0.00017
|
|
NM_182961.4(SYNE1):c.16831C>T (p.Arg5611Trp)
|
rs369292604
|
0.00017
|
|
NM_182961.4(SYNE1):c.17020-20C>T
|
rs558291255
|
0.00017
|
|
NM_182961.4(SYNE1):c.22910G>C (p.Ser7637Thr)
|
rs201497427
|
0.00017
|
|
NM_182961.4(SYNE1):c.582-9A>G
|
rs200412221
|
0.00017
|
|
NM_182961.4(SYNE1):c.7713-4T>C
|
rs571742202
|
0.00017
|
|
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_001044385.3(TMEM237):c.79+8del
|
rs759786234
|
0.00016
|
|
NM_001044385.3(TMEM237):c.869+10A>G
|
rs376868416
|
0.00016
|
|
NM_001077418.3(TMEM231):c.243C>T (p.Leu81=)
|
rs371752653
|
0.00016
|
|
NM_001329943.3(KIAA0586):c.1143A>G (p.Leu381=)
|
rs370408761
|
0.00016
|
|
NM_001329943.3(KIAA0586):c.117G>A (p.Glu39=)
|
rs190089844
|
0.00016
|
|
NM_001329943.3(KIAA0586):c.3555A>G (p.Glu1185=)
|
rs780038095
|
0.00016
|
|
NM_001329943.3(KIAA0586):c.411-1369A>G
|
rs1044844835
|
0.00016
|
|
NM_001347702.2(SYNE1):c.1446A>G (p.Val482=)
|
rs377088951
|
0.00016
|
|
NM_001378969.1(KCND3):c.1106+10C>T
|
rs377267051
|
0.00016
|
|
NM_001378969.1(KCND3):c.1646G>A (p.Arg549His)
|
rs35027371
|
0.00016
|
|
NM_001382391.1(CSPP1):c.1359A>C (p.Arg453Ser)
|
rs377385599
|
0.00016
|
|
NM_001382391.1(CSPP1):c.3529T>G (p.Ser1177Ala)
|
rs374262758
|
0.00016
|
|
NM_015046.7(SETX):c.1066G>A (p.Val356Ile)
|
rs143270460
|
0.00016
|
|
NM_015046.7(SETX):c.498+14T>C
|
rs753336459
|
0.00016
|
|
NM_015046.7(SETX):c.6013G>A (p.Val2005Met)
|
rs148568105
|
0.00016
|
|
NM_015046.7(SETX):c.7195A>G (p.Ile2399Val)
|
rs150489999
|
0.00016
|
|
NM_016169.4(SUFU):c.255C>T (p.Pro85=)
|
rs113671745
|
0.00016
|
|
NM_016373.4(WWOX):c.1222C>T (p.Arg408Trp)
|
rs144234059
|
0.00016
|
|
NM_016373.4(WWOX):c.301C>G (p.Pro101Ala)
|
rs574637594
|
0.00016
|
|
NM_016373.4(WWOX):c.990C>G (p.Asn330Lys)
|
rs117209694
|
0.00016
|
|
NM_022464.5(SIL1):c.424G>C (p.Ala142Pro)
|
rs142987777
|
0.00016
|
|
NM_182961.4(SYNE1):c.11594C>T (p.Thr3865Met)
|
rs202173395
|
0.00016
|
|
NM_182961.4(SYNE1):c.12351+4A>C
|
rs375086691
|
0.00016
|
|
NM_182961.4(SYNE1):c.16687C>T (p.Arg5563Trp)
|
rs375097544
|
0.00016
|
|
NM_182961.4(SYNE1):c.19696A>G (p.Met6566Val)
|
rs541395341
|
0.00016
|
|
NM_182961.4(SYNE1):c.21731A>G (p.Tyr7244Cys)
|
rs536892317
|
0.00016
|
|
NM_182961.4(SYNE1):c.24861C>T (p.His8287=)
|
rs202207154
|
0.00016
|
|
NM_182961.4(SYNE1):c.25342G>A (p.Asp8448Asn)
|
rs139679692
|
0.00016
|
|
NM_182961.4(SYNE1):c.25484G>A (p.Arg8495His)
|
rs558046278
|
0.00016
|
|
NM_182961.4(SYNE1):c.4261A>G (p.Lys1421Glu)
|
rs369236839
|
0.00016
|
|
NM_182961.4(SYNE1):c.4636A>G (p.Thr1546Ala)
|
rs146965313
|
0.00016
|
|
NM_182961.4(SYNE1):c.5724C>T (p.Asp1908=)
|
rs375222186
|
0.00016
|
|
NM_182961.4(SYNE1):c.6649G>A (p.Val2217Ile)
|
rs377531174
|
0.00016
|
|
NM_182961.4(SYNE1):c.8737G>T (p.Ala2913Ser)
|
rs151300068
|
0.00016
|
|
NM_182961.4(SYNE1):c.9419C>T (p.Ala3140Val)
|
rs146402274
|
0.00016
|
|
NM_182961.4(SYNE1):c.9807+15G>A
|
rs371593819
|
0.00016
|
|
NM_000784.4(CYP27A1):c.784C>T (p.Arg262Cys)
|
rs778371330
|
0.00015
|
|
NM_001077418.3(TMEM231):c.397C>G (p.Leu133Val)
|
rs866563020
|
0.00015
|
|
NM_001329943.3(KIAA0586):c.1240G>A (p.Glu414Lys)
|
rs147844088
|
0.00015
|
|
NM_001329943.3(KIAA0586):c.2536G>C (p.Val846Leu)
|
rs747245461
|
0.00015
|
|
NM_001329943.3(KIAA0586):c.3377C>T (p.Ala1126Val)
|
rs750969059
|
0.00015
|
|
NM_001378969.1(KCND3):c.1292G>A (p.Arg431His)
|
rs771703569
|
0.00015
|
|
NM_001382391.1(CSPP1):c.148A>G (p.Met50Val)
|
rs375985758
|
0.00015
|
|
NM_015046.7(SETX):c.1869A>C (p.Glu623Asp)
|
rs139200312
|
0.00015
|
|
NM_015046.7(SETX):c.7100+9T>C
|
rs200088320
|
0.00015
|
|
NM_015046.7(SETX):c.7288-19C>T
|
rs368143983
|
0.00015
|
|
NM_182961.4(SYNE1):c.12115G>A (p.Val4039Ile)
|
rs199774691
|
0.00015
|
|
NM_182961.4(SYNE1):c.13849A>C (p.Asn4617His)
|
rs147667464
|
0.00015
|
|
NM_182961.4(SYNE1):c.18817G>A (p.Glu6273Lys)
|
rs201346604
|
0.00015
|
|
NM_182961.4(SYNE1):c.19573-12G>C
|
rs200455883
|
0.00015
|
|
NM_182961.4(SYNE1):c.21440T>C (p.Met7147Thr)
|
rs140962690
|
0.00015
|
|
NM_182961.4(SYNE1):c.25120-6A>G
|
rs201898019
|
0.00015
|
|
NM_182961.4(SYNE1):c.4723C>T (p.Leu1575Phe)
|
rs200424447
|
0.00015
|
|
NM_182961.4(SYNE1):c.6648C>T (p.Cys2216=)
|
rs185829704
|
0.00015
|
|
NM_182961.4(SYNE1):c.9927G>A (p.Pro3309=)
|
rs140830584
|
0.00015
|
|
NM_000784.4(CYP27A1):c.215T>A (p.Leu72Gln)
|
rs138189735
|
0.00014
|
|
NM_001077418.3(TMEM231):c.749G>A (p.Arg250Gln)
|
rs369010440
|
0.00014
|
|
NM_001329943.3(KIAA0586):c.1259C>T (p.Pro420Leu)
|
rs187783779
|
0.00014
|
|
NM_001329943.3(KIAA0586):c.1490A>G (p.Asn497Ser)
|
rs753633031
|
0.00014
|
|
NM_001329943.3(KIAA0586):c.3528-12T>G
|
rs553895000
|
0.00014
|
|
NM_001329943.3(KIAA0586):c.395C>G (p.Thr132Arg)
|
rs200627657
|
0.00014
|
|
NM_001329943.3(KIAA0586):c.3980A>G (p.Tyr1327Cys)
|
rs201929144
|
0.00014
|
|
NM_001329943.3(KIAA0586):c.4495+3790C>T
|
rs757410007
|
0.00014
|
|
NM_001378969.1(KCND3):c.696G>A (p.Ala232=)
|
rs370453605
|
0.00014
|
|
NM_001382391.1(CSPP1):c.-101A>G
|
rs200250731
|
0.00014
|
|
NM_001382391.1(CSPP1):c.1675C>A (p.His559Asn)
|
rs201417325
|
0.00014
|
|
NM_001382391.1(CSPP1):c.2629C>T (p.Arg877Cys)
|
rs199521775
|
0.00014
|
|
NM_015046.7(SETX):c.390C>T (p.Asn130=)
|
rs138363625
|
0.00014
|
|
NM_016169.4(SUFU):c.1058C>T (p.Thr353Met)
|
rs137880855
|
0.00014
|
|
NM_016169.4(SUFU):c.839G>A (p.Arg280Gln)
|
rs145704867
|
0.00014
|
|
NM_016373.4(WWOX):c.499C>T (p.Arg167Cys)
|
rs201228765
|
0.00014
|
|
NM_016373.4(WWOX):c.517-17A>G
|
rs79423401
|
0.00014
|
|
NM_016373.4(WWOX):c.946G>C (p.Val316Leu)
|
rs201941494
|
0.00014
|
|
NM_018718.3(CEP41):c.757+12G>T
|
rs377656524
|
0.00014
|
|
NM_182961.4(SYNE1):c.10078C>A (p.Gln3360Lys)
|
rs774710219
|
0.00014
|
|
NM_182961.4(SYNE1):c.12393C>A (p.Gly4131=)
|
rs375707429
|
0.00014
|
|
NM_182961.4(SYNE1):c.12615G>A (p.Ser4205=)
|
rs138650597
|
0.00014
|
|
NM_182961.4(SYNE1):c.14029G>A (p.Ala4677Thr)
|
rs374301933
|
0.00014
|
|
NM_182961.4(SYNE1):c.14164G>A (p.Glu4722Lys)
|
rs35484093
|
0.00014
|
|
NM_182961.4(SYNE1):c.15535G>T (p.Ala5179Ser)
|
rs375686353
|
0.00014
|
|
NM_182961.4(SYNE1):c.1622A>G (p.Gln541Arg)
|
rs532911105
|
0.00014
|
|
NM_182961.4(SYNE1):c.16573-3C>T
|
rs376927135
|
0.00014
|
|
NM_182961.4(SYNE1):c.19026C>T (p.Asp6342=)
|
rs370053768
|
0.00014
|
|
NM_182961.4(SYNE1):c.22072G>T (p.Ala7358Ser)
|
rs145518327
|
0.00014
|
|
NM_182961.4(SYNE1):c.22783A>G (p.Ile7595Val)
|
rs146320179
|
0.00014
|
|
NM_182961.4(SYNE1):c.23222A>G (p.Tyr7741Cys)
|
rs34974663
|
0.00014
|
|
NM_182961.4(SYNE1):c.3498C>T (p.Ala1166=)
|
rs144235226
|
0.00014
|
|
NM_182961.4(SYNE1):c.4824G>A (p.Ala1608=)
|
rs369587906
|
0.00014
|
|
NM_182961.4(SYNE1):c.6009A>C (p.Lys2003Asn)
|
rs772627014
|
0.00014
|
|
NM_182961.4(SYNE1):c.7029+15A>G
|
rs757201043
|
0.00014
|
|
NM_182961.4(SYNE1):c.7076C>A (p.Thr2359Asn)
|
rs142747430
|
0.00014
|
|
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met)
|
rs121908102
|
0.00013
|
|
NM_001329943.3(KIAA0586):c.2287C>T (p.Pro763Ser)
|
rs776790149
|
0.00013
|
|
NM_001329943.3(KIAA0586):c.2832G>A (p.Glu944=)
|
rs373201020
|
0.00013
|
|
NM_001329943.3(KIAA0586):c.2892T>C (p.Pro964=)
|
rs527907908
|
0.00013
|
|
NM_001382391.1(CSPP1):c.1245+15dup
|
rs766672873
|
0.00013
|
|
NM_001382391.1(CSPP1):c.3466dup (p.Thr1156fs)
|
rs748602759
|
0.00013
|
|
NM_001382391.1(CSPP1):c.3578C>T (p.Thr1193Met)
|
rs201142840
|
0.00013
|
|
NM_015046.7(SETX):c.3555G>A (p.Gln1185=)
|
rs762171056
|
0.00013
|
|
NM_015046.7(SETX):c.3992C>T (p.Pro1331Leu)
|
rs11243731
|
0.00013
|
|
NM_015046.7(SETX):c.7490G>A (p.Ser2497Asn)
|
rs61735488
|
0.00013
|
|
NM_016373.4(WWOX):c.1078G>A (p.Val360Met)
|
rs200019508
|
0.00013
|
|
NM_182961.4(SYNE1):c.18816C>T (p.Gly6272=)
|
rs142296702
|
0.00013
|
|
NM_182961.4(SYNE1):c.19689C>A (p.Leu6563=)
|
rs372285648
|
0.00013
|
|
NM_182961.4(SYNE1):c.20070G>C (p.Thr6690=)
|
rs141263831
|
0.00013
|
|
NM_182961.4(SYNE1):c.21612C>T (p.Pro7204=)
|
rs141170182
|
0.00013
|
|
NM_182961.4(SYNE1):c.21876A>G (p.Gly7292=)
|
rs375826346
|
0.00013
|
|
NM_182961.4(SYNE1):c.226-2dup
|
rs774388631
|
0.00013
|
|
NM_182961.4(SYNE1):c.4378G>A (p.Val1460Ile)
|
rs376463379
|
0.00013
|
|
NM_182961.4(SYNE1):c.6549G>C (p.Glu2183Asp)
|
rs144797998
|
0.00013
|
|
NM_182961.4(SYNE1):c.6908C>T (p.Thr2303Met)
|
rs190867604
|
0.00013
|
|
NM_182961.4(SYNE1):c.8375G>A (p.Arg2792His)
|
rs139175290
|
0.00013
|
|
NM_182961.4(SYNE1):c.9604C>T (p.Arg3202Cys)
|
rs749550071
|
0.00013
|
|
NM_000784.4(CYP27A1):c.578G>A (p.Arg193Gln)
|
rs181649030
|
0.00012
|
|
NM_001077418.3(TMEM231):c.621C>G (p.Asp207Glu)
|
rs372018476
|
0.00012
|
|
NM_001329943.3(KIAA0586):c.1987C>T (p.Pro663Ser)
|
rs370560098
|
0.00012
|
|
NM_001329943.3(KIAA0586):c.411-1476T>G
|
rs768486087
|
0.00012
|
|
NM_001378969.1(KCND3):c.1354G>A (p.Glu452Lys)
|
rs200532657
|
0.00012
|
|
NM_001378969.1(KCND3):c.1865C>T (p.Ala622Val)
|
rs199663609
|
0.00012
|
|
NM_001382391.1(CSPP1):c.1325A>G (p.His442Arg)
|
rs373927950
|
0.00012
|
|
NM_001382391.1(CSPP1):c.1995C>T (p.His665=)
|
rs746724587
|
0.00012
|
|
NM_001382391.1(CSPP1):c.2772G>A (p.Glu924=)
|
rs369933035
|
0.00012
|
|
NM_001382391.1(CSPP1):c.66G>A (p.Glu22=)
|
rs372836006
|
0.00012
|
|
NM_015046.7(SETX):c.3505A>G (p.Met1169Val)
|
rs573849874
|
0.00012
|
|
NM_015046.7(SETX):c.4511A>G (p.Glu1504Gly)
|
rs781275166
|
0.00012
|
|
NM_015046.7(SETX):c.5051C>G (p.Ser1684Cys)
|
rs140116005
|
0.00012
|
|
NM_015046.7(SETX):c.7990C>T (p.Leu2664=)
|
rs200826214
|
0.00012
|
|
NM_016169.4(SUFU):c.1297-13T>C
|
rs557592503
|
0.00012
|
|
NM_016373.4(WWOX):c.898A>G (p.Asn300Asp)
|
rs374541202
|
0.00012
|
|
NM_016464.5(TMEM138):c.414C>T (p.Ala138=)
|
rs151094420
|
0.00012
|
|
NM_182961.4(SYNE1):c.11675T>C (p.Leu3892Ser)
|
rs180727534
|
0.00012
|
|
NM_182961.4(SYNE1):c.13628A>G (p.Tyr4543Cys)
|
rs138770612
|
0.00012
|
|
NM_182961.4(SYNE1):c.14055G>A (p.Gln4685=)
|
rs370890411
|
0.00012
|
|
NM_182961.4(SYNE1):c.15377A>C (p.Glu5126Ala)
|
rs773536890
|
0.00012
|
|
NM_182961.4(SYNE1):c.15816G>T (p.Arg5272=)
|
rs762050069
|
0.00012
|
|
NM_182961.4(SYNE1):c.1632+11C>T
|
rs371323621
|
0.00012
|
|
NM_182961.4(SYNE1):c.16901T>C (p.Met5634Thr)
|
rs138509817
|
0.00012
|
|
NM_182961.4(SYNE1):c.17089C>T (p.Arg5697Trp)
|
rs150290283
|
0.00012
|
|
NM_182961.4(SYNE1):c.19692+20G>C
|
rs140078199
|
0.00012
|
|
NM_182961.4(SYNE1):c.20142C>T (p.Ser6714=)
|
rs201908045
|
0.00012
|
|
NM_182961.4(SYNE1):c.21523-18G>T
|
rs191367384
|
0.00012
|
|
NM_182961.4(SYNE1):c.23757G>A (p.Ser7919=)
|
rs377113267
|
0.00012
|
|
NM_182961.4(SYNE1):c.4008+15T>C
|
rs368542446
|
0.00012
|
|
NM_182961.4(SYNE1):c.6812C>T (p.Pro2271Leu)
|
rs555536675
|
0.00012
|
|
NM_182961.4(SYNE1):c.8972C>T (p.Thr2991Met)
|
rs763526846
|
0.00012
|
|
NM_182961.4(SYNE1):c.9891G>A (p.Thr3297=)
|
rs200222988
|
0.00012
|
|
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_001044385.3(TMEM237):c.499A>G (p.Thr167Ala)
|
rs781571059
|
0.00011
|
|
NM_001044385.3(TMEM237):c.989G>A (p.Ser330Asn)
|
rs143081480
|
0.00011
|
|
NM_001077418.3(TMEM231):c.583-9G>A
|
rs371734111
|
0.00011
|
|
NM_001329943.3(KIAA0586):c.1393C>T (p.Pro465Ser)
|
rs376681702
|
0.00011
|
|
NM_001329943.3(KIAA0586):c.2077A>G (p.Ile693Val)
|
rs200735064
|
0.00011
|
|
NM_001329943.3(KIAA0586):c.215C>T (p.Thr72Ile)
|
rs201393625
|
0.00011
|
|
NM_001329943.3(KIAA0586):c.2856C>T (p.Ile952=)
|
rs780091990
|
0.00011
|
|
NM_001329943.3(KIAA0586):c.42T>A (p.Ile14=)
|
rs554948147
|
0.00011
|
|
NM_001347702.2(SYNE1):c.1464T>G (p.Pro488=)
|
rs770649913
|
0.00011
|
|
NM_001378969.1(KCND3):c.1702C>T (p.Arg568Cys)
|
rs144120746
|
0.00011
|
|
NM_001382391.1(CSPP1):c.1470C>T (p.Ser490=)
|
rs548142175
|
0.00011
|
|
NM_001382391.1(CSPP1):c.2987A>C (p.Asp996Ala)
|
rs371720718
|
0.00011
|
|
NM_001382391.1(CSPP1):c.3430C>T (p.Arg1144Ter)
|
rs200346372
|
0.00011
|
|
NM_001382391.1(CSPP1):c.3655C>G (p.Gln1219Glu)
|
rs368550470
|
0.00011
|
|
NM_001382391.1(CSPP1):c.653G>A (p.Arg218Gln)
|
rs371211802
|
0.00011
|
|
NM_015046.7(SETX):c.5012G>A (p.Gly1671Asp)
|
rs775112319
|
0.00011
|
|
NM_015046.7(SETX):c.5941C>T (p.Leu1981=)
|
rs373324070
|
0.00011
|
|
NM_015046.7(SETX):c.7092T>C (p.Asp2364=)
|
rs144607919
|
0.00011
|
|
NM_016169.4(SUFU):c.1121A>G (p.Asn374Ser)
|
rs1265012285
|
0.00011
|
|
NM_016169.4(SUFU):c.1232C>T (p.Thr411Met)
|
rs368020224
|
0.00011
|
|
NM_016169.4(SUFU):c.1245C>T (p.Gly415=)
|
rs144158469
|
0.00011
|
|
NM_016373.4(WWOX):c.420C>T (p.Thr140=)
|
rs374644172
|
0.00011
|
|
NM_016373.4(WWOX):c.591C>G (p.Phe197Leu)
|
rs200847456
|
0.00011
|
|
NM_016373.4(WWOX):c.786C>T (p.Ser262=)
|
rs376709568
|
0.00011
|
|
NM_016464.5(TMEM138):c.465G>A (p.Lys155=)
|
rs141851191
|
0.00011
|
|
NM_018718.3(CEP41):c.107T>C (p.Met36Thr)
|
rs368178632
|
0.00011
|
|
NM_022464.5(SIL1):c.103C>G (p.Leu35Val)
|
rs759591537
|
0.00011
|
|
NM_182961.4(SYNE1):c.10105A>G (p.Met3369Val)
|
rs199668467
|
0.00011
|
|
NM_182961.4(SYNE1):c.10784A>G (p.Asn3595Ser)
|
rs148212715
|
0.00011
|
|
NM_182961.4(SYNE1):c.11429C>T (p.Thr3810Met)
|
rs375577011
|
0.00011
|
|
NM_182961.4(SYNE1):c.13724G>T (p.Cys4575Phe)
|
rs199701902
|
0.00011
|
|
NM_182961.4(SYNE1):c.13800A>G (p.Thr4600=)
|
rs184264920
|
0.00011
|
|
NM_182961.4(SYNE1):c.14991G>T (p.Arg4997Ser)
|
rs201306174
|
0.00011
|
|
NM_182961.4(SYNE1):c.17203-6T>C
|
rs1589744380
|
0.00011
|
|
NM_182961.4(SYNE1):c.17905C>T (p.Gln5969Ter)
|
rs967105970
|
0.00011
|
|
NM_182961.4(SYNE1):c.18584A>C (p.Gln6195Pro)
|
rs370472085
|
0.00011
|
|
NM_182961.4(SYNE1):c.18999G>C (p.Leu6333Phe)
|
rs141934037
|
0.00011
|
|
NM_182961.4(SYNE1):c.19972A>G (p.Lys6658Glu)
|
rs376891338
|
0.00011
|
|
NM_182961.4(SYNE1):c.20289A>G (p.Ser6763=)
|
rs142327194
|
0.00011
|
|
NM_182961.4(SYNE1):c.20737C>T (p.Arg6913Cys)
|
rs142593312
|
0.00011
|
|
NM_182961.4(SYNE1):c.21377A>G (p.Lys7126Arg)
|
rs145882956
|
0.00011
|
|
NM_182961.4(SYNE1):c.22303C>T (p.Arg7435Cys)
|
rs371642308
|
0.00011
|
|
NM_182961.4(SYNE1):c.2395G>A (p.Val799Ile)
|
rs199670962
|
0.00011
|
|
NM_182961.4(SYNE1):c.25086G>A (p.Thr8362=)
|
rs377302991
|
0.00011
|
|
NM_182961.4(SYNE1):c.5850C>A (p.Ala1950=)
|
rs373129942
|
0.00011
|
|
NM_182961.4(SYNE1):c.7175T>C (p.Val2392Ala)
|
rs199558070
|
0.00011
|
|
NM_182961.4(SYNE1):c.8005-3C>T
|
rs117084693
|
0.00011
|
|
NM_182961.4(SYNE1):c.8557A>G (p.Thr2853Ala)
|
rs77853132
|
0.00011
|
|
NM_182961.4(SYNE1):c.8839C>G (p.Leu2947Val)
|
rs756300560
|
0.00011
|
|
NM_182961.4(SYNE1):c.9009+14C>T
|
rs370240234
|
0.00011
|
|
NM_182961.4(SYNE1):c.9696G>A (p.Arg3232=)
|
rs377001681
|
0.00011
|
|
NM_182961.4(SYNE1):c.9855C>T (p.Phe3285=)
|
rs776394371
|
0.00011
|
|
NM_182961.4(SYNE1):c.9934G>A (p.Asp3312Asn)
|
rs147281213
|
0.00011
|
|
NM_000784.4(CYP27A1):c.1017G>A (p.Thr339=)
|
rs200553205
|
0.00010
|
|
NM_000784.4(CYP27A1):c.1413T>C (p.Tyr471=)
|
rs549032526
|
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_001044385.3(TMEM237):c.1031G>C (p.Ser344Thr)
|
rs576982977
|
0.00010
|
|
NM_001077418.3(TMEM231):c.559G>A (p.Gly187Ser)
|
rs563492919
|
0.00010
|
|
NM_001329943.3(KIAA0586):c.1080G>C (p.Arg360Ser)
|
rs200094677
|
0.00010
|
|
NM_001329943.3(KIAA0586):c.2903T>C (p.Val968Ala)
|
rs753972803
|
0.00010
|
|
NM_001329943.3(KIAA0586):c.36A>C (p.Lys12Asn)
|
rs372215354
|
0.00010
|
|
NM_001329943.3(KIAA0586):c.4404T>C (p.Ser1468=)
|
rs774903272
|
0.00010
|
|
NM_001382391.1(CSPP1):c.2238C>A (p.Phe746Leu)
|
rs372716023
|
0.00010
|
|
NM_001382391.1(CSPP1):c.2751A>C (p.Arg917Ser)
|
rs201720914
|
0.00010
|
|
NM_015046.7(SETX):c.1504C>T (p.Arg502Trp)
|
rs534723946
|
0.00010
|
|
NM_015046.7(SETX):c.3650C>T (p.Thr1217Met)
|
rs140892948
|
0.00010
|
|
NM_015046.7(SETX):c.4020G>T (p.Lys1340Asn)
|
rs368323660
|
0.00010
|
|
NM_015046.7(SETX):c.431A>G (p.Asn144Ser)
|
rs767453182
|
0.00010
|
|
NM_015046.7(SETX):c.7926G>A (p.Glu2642=)
|
rs147986724
|
0.00010
|
|
NM_016373.4(WWOX):c.1170C>T (p.Ser390=)
|
rs372635911
|
0.00010
|
|
NM_016373.4(WWOX):c.568G>A (p.Val190Met)
|
rs769400934
|
0.00010
|
|
NM_016373.4(WWOX):c.851A>G (p.Lys284Arg)
|
rs897453553
|
0.00010
|
|
NM_018718.3(CEP41):c.145+6del
|
rs782483563
|
0.00010
|
|
NM_018718.3(CEP41):c.422+6C>T
|
rs199678365
|
0.00010
|
|
NM_018718.3(CEP41):c.5C>T (p.Ser2Phe)
|
rs782137799
|
0.00010
|
|
NM_022464.5(SIL1):c.1326C>T (p.Asp442=)
|
rs375567857
|
0.00010
|
|
NM_022464.5(SIL1):c.724G>A (p.Val242Met)
|
rs545999438
|
0.00010
|
|
NM_022464.5(SIL1):c.849C>T (p.Leu283=)
|
rs372816951
|
0.00010
|
|
NM_182961.4(SYNE1):c.10217A>C (p.Asp3406Ala)
|
rs546645393
|
0.00010
|
|
NM_182961.4(SYNE1):c.10761C>T (p.Ser3587=)
|
rs201715967
|
0.00010
|
|
NM_182961.4(SYNE1):c.11088A>G (p.Gln3696=)
|
rs375949615
|
0.00010
|
|
NM_182961.4(SYNE1):c.11936G>A (p.Arg3979His)
|
rs142444474
|
0.00010
|
|
NM_182961.4(SYNE1):c.14380C>T (p.Leu4794=)
|
rs138307449
|
0.00010
|
|
NM_182961.4(SYNE1):c.14491G>C (p.Val4831Leu)
|
rs375977864
|
0.00010
|
|
NM_182961.4(SYNE1):c.14956-14T>C
|
rs368344443
|
0.00010
|
|
NM_182961.4(SYNE1):c.15894C>T (p.Thr5298=)
|
rs143416387
|
0.00010
|
|
NM_182961.4(SYNE1):c.17052G>A (p.Pro5684=)
|
rs148994723
|
0.00010
|
|
NM_182961.4(SYNE1):c.17175C>T (p.Thr5725=)
|
rs200002217
|
0.00010
|
|
NM_182961.4(SYNE1):c.1729+14C>T
|
rs76417048
|
0.00010
|
|
NM_182961.4(SYNE1):c.17531C>G (p.Ser5844Cys)
|
rs144244988
|
0.00010
|
|
NM_182961.4(SYNE1):c.19351C>G (p.Arg6451Gly)
|
rs755740366
|
0.00010
|
|
NM_182961.4(SYNE1):c.19534G>T (p.Ala6512Ser)
|
rs149272010
|
0.00010
|
|
NM_182961.4(SYNE1):c.20068-15A>C
|
rs368904376
|
0.00010
|
|
NM_182961.4(SYNE1):c.21469C>T (p.Arg7157Cys)
|
rs757688642
|
0.00010
|
|
NM_182961.4(SYNE1):c.21924G>A (p.Glu7308=)
|
rs371017408
|
0.00010
|
|
NM_182961.4(SYNE1):c.22915G>A (p.Ala7639Thr)
|
rs376169744
|
0.00010
|
|
NM_182961.4(SYNE1):c.23791-7C>T
|
rs375558499
|
0.00010
|
|
NM_182961.4(SYNE1):c.25966C>A (p.Leu8656Met)
|
rs748509032
|
0.00010
|
|
NM_182961.4(SYNE1):c.25C>T (p.Arg9Trp)
|
rs200346529
|
0.00010
|
|
NM_182961.4(SYNE1):c.4298C>T (p.Thr1433Met)
|
rs139798419
|
0.00010
|
|
NM_182961.4(SYNE1):c.7767C>T (p.His2589=)
|
rs149165706
|
0.00010
|
|
NM_182961.4(SYNE1):c.8360C>T (p.Thr2787Met)
|
rs142676206
|
0.00010
|
|
NM_182961.4(SYNE1):c.8686C>T (p.Arg2896Cys)
|
rs750573381
|
0.00010
|
|
NM_182961.4(SYNE1):c.9897G>T (p.Ala3299=)
|
rs184006845
|
0.00010
|
|
NM_000784.4(CYP27A1):c.1184+1G>A
|
rs587778777
|
0.00009
|
|
NM_000784.4(CYP27A1):c.387C>T (p.Asp129=)
|
rs1426398337
|
0.00009
|
|
NM_001077418.3(TMEM231):c.216G>T (p.Leu72=)
|
rs751840699
|
0.00009
|
|
NM_001077418.3(TMEM231):c.373C>G (p.Pro125Ala)
|
rs1442638461
|
0.00009
|
|
NM_001077418.3(TMEM231):c.45C>T (p.Tyr15=)
|
rs375077045
|
0.00009
|
|
NM_001077418.3(TMEM231):c.798A>G (p.Val266=)
|
rs772364535
|
0.00009
|
|
NM_001077418.3(TMEM231):c.90C>T (p.Ala30=)
|
rs758878104
|
0.00009
|
|
NM_001329943.3(KIAA0586):c.3841C>T (p.His1281Tyr)
|
rs371424977
|
0.00009
|
|
NM_001329943.3(KIAA0586):c.3859-17C>T
|
rs764917881
|
0.00009
|
|
NM_001329943.3(KIAA0586):c.411-1359T>G
|
rs1051790402
|
0.00009
|
|
NM_001329943.3(KIAA0586):c.4559C>T (p.Pro1520Leu)
|
rs750833160
|
0.00009
|
|
NM_001329943.3(KIAA0586):c.657A>G (p.Lys219=)
|
rs533752814
|
0.00009
|
|
NM_001329943.3(KIAA0586):c.789A>G (p.Gln263=)
|
rs550354835
|
0.00009
|
|
NM_001378969.1(KCND3):c.1062C>A (p.Ile354=)
|
rs150934088
|
0.00009
|
|
NM_001378969.1(KCND3):c.1149C>T (p.Phe383=)
|
rs760817061
|
0.00009
|
|
NM_001378969.1(KCND3):c.1269+13C>T
|
rs72548726
|
0.00009
|
|
NM_001378969.1(KCND3):c.1766+3G>A
|
rs748524463
|
0.00009
|
|
NM_001378969.1(KCND3):c.207G>A (p.Thr69=)
|
rs751347311
|
0.00009
|
|
NM_001382391.1(CSPP1):c.1697+19G>T
|
rs563103826
|
0.00009
|
|
NM_001382391.1(CSPP1):c.2128+1G>A
|
rs199791452
|
0.00009
|
|
NM_001382391.1(CSPP1):c.2672C>T (p.Pro891Leu)
|
rs755021253
|
0.00009
|
|
NM_001382391.1(CSPP1):c.2953G>A (p.Glu985Lys)
|
rs763639767
|
0.00009
|
|
NM_001382391.1(CSPP1):c.3157C>T (p.Pro1053Ser)
|
rs371681100
|
0.00009
|
|
NM_001382391.1(CSPP1):c.3188A>G (p.Asn1063Ser)
|
rs201884732
|
0.00009
|
|
NM_001382391.1(CSPP1):c.3330+18C>A
|
rs372999075
|
0.00009
|
|
NM_001382391.1(CSPP1):c.3431G>A (p.Arg1144Gln)
|
rs763390190
|
0.00009
|
|
NM_001382391.1(CSPP1):c.511A>G (p.Ile171Val)
|
rs188917565
|
0.00009
|
|
NM_001382391.1(CSPP1):c.964C>T (p.His322Tyr)
|
rs145635985
|
0.00009
|
|
NM_015046.7(SETX):c.1065C>T (p.Ile355=)
|
rs376107422
|
0.00009
|
|
NM_015046.7(SETX):c.2750T>C (p.Met917Thr)
|
rs376022544
|
0.00009
|
|
NM_015046.7(SETX):c.4677A>G (p.Lys1559=)
|
rs200123129
|
0.00009
|
|
NM_015046.7(SETX):c.4866G>A (p.Pro1622=)
|
rs779472573
|
0.00009
|
|
NM_015046.7(SETX):c.5852A>G (p.His1951Arg)
|
rs146593865
|
0.00009
|
|
NM_015046.7(SETX):c.7770C>T (p.Pro2590=)
|
rs532828022
|
0.00009
|
|
NM_015046.7(SETX):c.78G>A (p.Pro26=)
|
rs139972421
|
0.00009
|
|
NM_016169.4(SUFU):c.1045A>G (p.Ser349Gly)
|
rs368178771
|
0.00009
|
|
NM_016169.4(SUFU):c.1272C>T (p.Tyr424=)
|
rs771084342
|
0.00009
|
|
NM_016169.4(SUFU):c.183-20_183-19del
|
rs763795960
|
0.00009
|
|
NM_016169.4(SUFU):c.879C>T (p.Ile293=)
|
rs370516021
|
0.00009
|
|
NM_016373.4(WWOX):c.1228G>T (p.Gly410Cys)
|
rs76204496
|
0.00009
|
|
NM_016373.4(WWOX):c.19G>A (p.Ala7Thr)
|
rs371392600
|
0.00009
|
|
NM_016373.4(WWOX):c.311G>A (p.Arg104Gln)
|
rs199625891
|
0.00009
|
|
NM_016373.4(WWOX):c.406A>G (p.Ile136Val)
|
rs193027041
|
0.00009
|
|
NM_016373.4(WWOX):c.482C>T (p.Ala161Val)
|
rs369055872
|
0.00009
|
|
NM_016464.5(TMEM138):c.128+3G>T
|
rs754691659
|
0.00009
|
|
NM_016464.5(TMEM138):c.129-4A>G
|
rs372877379
|
0.00009
|
|
NM_018718.3(CEP41):c.754G>A (p.Gly252Arg)
|
rs201834429
|
0.00009
|
|
NM_022464.5(SIL1):c.142A>C (p.Thr48Pro)
|
rs185697854
|
0.00009
|
|
NM_022464.5(SIL1):c.274C>T (p.Arg92Trp)
|
rs149242794
|
0.00009
|
|
NM_022464.5(SIL1):c.993C>T (p.Arg331=)
|
rs201009798
|
0.00009
|
|
NM_182961.4(SYNE1):c.130-17C>T
|
rs569421654
|
0.00009
|
|
NM_182961.4(SYNE1):c.13421G>A (p.Arg4474Gln)
|
rs771898973
|
0.00009
|
|
NM_182961.4(SYNE1):c.13769A>G (p.Asn4590Ser)
|
rs199827801
|
0.00009
|
|
NM_182961.4(SYNE1):c.13917C>T (p.Ser4639=)
|
rs753598358
|
0.00009
|
|
NM_182961.4(SYNE1):c.13949G>A (p.Arg4650Gln)
|
rs763557674
|
0.00009
|
|
NM_182961.4(SYNE1):c.14018G>A (p.Arg4673Gln)
|
rs144963785
|
0.00009
|
|
NM_182961.4(SYNE1):c.14955+8T>C
|
rs563400584
|
0.00009
|
|
NM_182961.4(SYNE1):c.15259C>T (p.Arg5087Trp)
|
rs767636254
|
0.00009
|
|
NM_182961.4(SYNE1):c.15294-17T>C
|
rs116949486
|
0.00009
|
|
NM_182961.4(SYNE1):c.15350T>C (p.Met5117Thr)
|
rs150761564
|
0.00009
|
|
NM_182961.4(SYNE1):c.15413C>T (p.Ala5138Val)
|
rs143916942
|
0.00009
|
|
NM_182961.4(SYNE1):c.16038A>G (p.Leu5346=)
|
rs192936944
|
0.00009
|
|
NM_182961.4(SYNE1):c.16211C>T (p.Ala5404Val)
|
rs140850000
|
0.00009
|
|
NM_182961.4(SYNE1):c.16405T>A (p.Leu5469Ile)
|
rs771840766
|
0.00009
|
|
NM_182961.4(SYNE1):c.1708T>C (p.Tyr570His)
|
rs199962439
|
0.00009
|
|
NM_182961.4(SYNE1):c.17512A>C (p.Thr5838Pro)
|
rs752135269
|
0.00009
|
|
NM_182961.4(SYNE1):c.17930C>T (p.Thr5977Met)
|
rs767144952
|
0.00009
|
|
NM_182961.4(SYNE1):c.18085G>A (p.Val6029Ile)
|
rs757079165
|
0.00009
|
|
NM_182961.4(SYNE1):c.18309G>A (p.Lys6103=)
|
rs759825628
|
0.00009
|
|
NM_182961.4(SYNE1):c.19255C>G (p.Gln6419Glu)
|
rs150700669
|
0.00009
|
|
NM_182961.4(SYNE1):c.19527A>G (p.Gln6509=)
|
rs377427003
|
0.00009
|
|
NM_182961.4(SYNE1):c.19606T>C (p.Phe6536Leu)
|
rs138707300
|
0.00009
|
|
NM_182961.4(SYNE1):c.20143G>A (p.Val6715Met)
|
rs145185413
|
0.00009
|
|
NM_182961.4(SYNE1):c.20159A>C (p.Glu6720Ala)
|
rs367790193
|
0.00009
|
|
NM_182961.4(SYNE1):c.20163C>T (p.Asn6721=)
|
rs201221147
|
0.00009
|
|
NM_182961.4(SYNE1):c.20182C>T (p.Arg6728Cys)
|
rs150063353
|
0.00009
|
|
NM_182961.4(SYNE1):c.21195+12A>G
|
rs200930593
|
0.00009
|
|
NM_182961.4(SYNE1):c.21493G>T (p.Ala7165Ser)
|
rs150723622
|
0.00009
|
|
NM_182961.4(SYNE1):c.21705G>A (p.Lys7235=)
|
rs148606479
|
0.00009
|
|
NM_182961.4(SYNE1):c.21951C>T (p.Ser7317=)
|
rs368864479
|
0.00009
|
|
NM_182961.4(SYNE1):c.21952G>A (p.Ala7318Thr)
|
rs145494541
|
0.00009
|
|
NM_182961.4(SYNE1):c.2210T>C (p.Val737Ala)
|
rs746347703
|
0.00009
|
|
NM_182961.4(SYNE1):c.2247G>A (p.Leu749=)
|
rs201537074
|
0.00009
|
|
NM_182961.4(SYNE1):c.22495-10T>A
|
rs528364885
|
0.00009
|
|
NM_182961.4(SYNE1):c.24129+8A>G
|
rs377056257
|
0.00009
|
|
NM_182961.4(SYNE1):c.2427G>A (p.Glu809=)
|
rs749509412
|
0.00009
|
|
NM_182961.4(SYNE1):c.24977-1718G>A
|
rs370143116
|
0.00009
|
|
NM_182961.4(SYNE1):c.24977-5C>T
|
rs767722883
|
0.00009
|
|
NM_182961.4(SYNE1):c.25085C>T (p.Thr8362Met)
|
rs147814237
|
0.00009
|
|
NM_182961.4(SYNE1):c.25092G>A (p.Pro8364=)
|
rs374755363
|
0.00009
|
|
NM_182961.4(SYNE1):c.254G>A (p.Arg85Gln)
|
rs575386895
|
0.00009
|
|
NM_182961.4(SYNE1):c.4544C>T (p.Thr1515Ile)
|
rs148785548
|
0.00009
|
|
NM_182961.4(SYNE1):c.4789-14C>T
|
rs769876215
|
0.00009
|
|
NM_182961.4(SYNE1):c.5101-11G>T
|
rs375142982
|
0.00009
|
|
NM_182961.4(SYNE1):c.6093C>T (p.His2031=)
|
rs150072383
|
0.00009
|
|
NM_182961.4(SYNE1):c.6969G>A (p.Val2323=)
|
rs140986546
|
0.00009
|
|
NM_182961.4(SYNE1):c.8241G>C (p.Gln2747His)
|
rs200658991
|
0.00009
|
|
NM_182961.4(SYNE1):c.9262G>A (p.Ala3088Thr)
|
rs398123005
|
0.00009
|
|
NM_000784.4(CYP27A1):c.1297C>T (p.Arg433Trp)
|
rs143002163
|
0.00008
|
|
NM_000784.4(CYP27A1):c.446C>T (p.Thr149Met)
|
rs776992864
|
0.00008
|
|
NM_001044385.3(TMEM237):c.275-9T>C
|
rs749658028
|
0.00008
|
|
NM_001329943.3(KIAA0586):c.1254-1G>C
|
rs757350052
|
0.00008
|
|
NM_001329943.3(KIAA0586):c.1269A>G (p.Glu423=)
|
rs190675549
|
0.00008
|
|
NM_001329943.3(KIAA0586):c.2736G>A (p.Pro912=)
|
rs368984896
|
0.00008
|
|
NM_001329943.3(KIAA0586):c.2831A>T (p.Glu944Val)
|
rs181400417
|
0.00008
|
|
NM_001329943.3(KIAA0586):c.3047C>T (p.Thr1016Ile)
|
rs372259984
|
0.00008
|
|
NM_001329943.3(KIAA0586):c.347A>G (p.Asp116Gly)
|
rs376113173
|
0.00008
|
|
NM_001329943.3(KIAA0586):c.4162G>A (p.Val1388Ile)
|
rs369067010
|
0.00008
|
|
NM_001329943.3(KIAA0586):c.4315T>G (p.Phe1439Val)
|
rs200405048
|
0.00008
|
|
NM_001329943.3(KIAA0586):c.962-14A>T
|
rs200528557
|
0.00008
|
|
NM_001347702.2(SYNE1):c.1455C>T (p.Pro485=)
|
rs761266231
|
0.00008
|
|
NM_001382391.1(CSPP1):c.2245G>A (p.Glu749Lys)
|
rs770075138
|
0.00008
|
|
NM_001382391.1(CSPP1):c.2981G>A (p.Arg994Gln)
|
rs367949127
|
0.00008
|
|
NM_001382391.1(CSPP1):c.814C>T (p.Arg272Trp)
|
rs756423026
|
0.00008
|
|
NM_015046.7(SETX):c.1221A>G (p.Thr407=)
|
rs377618570
|
0.00008
|
|
NM_015046.7(SETX):c.1374T>G (p.Phe458Leu)
|
rs201441886
|
0.00008
|
|
NM_015046.7(SETX):c.2865T>C (p.Asp955=)
|
rs368932478
|
0.00008
|
|
NM_015046.7(SETX):c.3103A>G (p.Lys1035Glu)
|
rs117229601
|
0.00008
|
|
NM_015046.7(SETX):c.3640A>G (p.Arg1214Gly)
|
rs371687197
|
0.00008
|
|
NM_015046.7(SETX):c.5271A>G (p.Glu1757=)
|
rs200499115
|
0.00008
|
|
NM_015046.7(SETX):c.5842A>G (p.Met1948Val)
|
rs762267386
|
0.00008
|
|
NM_015046.7(SETX):c.7682C>T (p.Ser2561Leu)
|
rs147705644
|
0.00008
|
|
NM_015046.7(SETX):c.7979A>G (p.Asp2660Gly)
|
rs567672087
|
0.00008
|
|
NM_016169.4(SUFU):c.1028G>A (p.Arg343His)
|
rs79299301
|
0.00008
|
|
NM_016373.4(WWOX):c.635C>T (p.Ala212Val)
|
rs202006159
|
0.00008
|
|
NM_016464.5(TMEM138):c.463A>G (p.Lys155Glu)
|
rs773659373
|
0.00008
|
|
NM_022464.5(SIL1):c.1022C>T (p.Thr341Met)
|
rs372399027
|
0.00008
|
|
NM_022464.5(SIL1):c.1029+7G>A
|
rs371041584
|
0.00008
|
|
NM_182961.4(SYNE1):c.10312G>A (p.Glu3438Lys)
|
rs550171329
|
0.00008
|
|
NM_182961.4(SYNE1):c.12872C>T (p.Ala4291Val)
|
rs151250199
|
0.00008
|
|
NM_182961.4(SYNE1):c.15505C>T (p.Leu5169=)
|
rs372205287
|
0.00008
|
|
NM_182961.4(SYNE1):c.16552C>T (p.Arg5518Trp)
|
rs377410590
|
0.00008
|
|
NM_182961.4(SYNE1):c.17150A>C (p.Glu5717Ala)
|
rs780396166
|
0.00008
|
|
NM_182961.4(SYNE1):c.17499G>C (p.Gly5833=)
|
rs754642929
|
0.00008
|
|
NM_182961.4(SYNE1):c.18345G>C (p.Glu6115Asp)
|
rs749005373
|
0.00008
|
|
NM_182961.4(SYNE1):c.18574-8A>C
|
rs749921940
|
0.00008
|
|
NM_182961.4(SYNE1):c.19015T>G (p.Tyr6339Asp)
|
rs140567583
|
0.00008
|
|
NM_182961.4(SYNE1):c.19199G>A (p.Arg6400His)
|
rs746141355
|
0.00008
|
|
NM_182961.4(SYNE1):c.19554C>T (p.Pro6518=)
|
rs780644969
|
0.00008
|
|
NM_182961.4(SYNE1):c.23019+8C>A
|
rs760060099
|
0.00008
|
|
NM_182961.4(SYNE1):c.23933G>A (p.Arg7978Gln)
|
rs774319570
|
0.00008
|
|
NM_182961.4(SYNE1):c.24635G>A (p.Arg8212His)
|
rs766462111
|
0.00008
|
|
NM_182961.4(SYNE1):c.2528G>A (p.Arg843His)
|
rs191723029
|
0.00008
|
|
NM_182961.4(SYNE1):c.25575G>A (p.Ser8525=)
|
rs776288515
|
0.00008
|
|
NM_182961.4(SYNE1):c.25625G>A (p.Arg8542Gln)
|
rs538407539
|
0.00008
|
|
NM_182961.4(SYNE1):c.25786A>G (p.Met8596Val)
|
rs746864807
|
0.00008
|
|
NM_182961.4(SYNE1):c.25922G>A (p.Arg8641Gln)
|
rs774776856
|
0.00008
|
|
NM_182961.4(SYNE1):c.26373G>A (p.Thr8791=)
|
rs370645510
|
0.00008
|
|
NM_182961.4(SYNE1):c.298G>A (p.Glu100Lys)
|
rs187117263
|
0.00008
|
|
NM_182961.4(SYNE1):c.5488T>C (p.Leu1830=)
|
rs118022241
|
0.00008
|
|
NM_182961.4(SYNE1):c.6102A>G (p.Glu2034=)
|
rs752482336
|
0.00008
|
|
NM_182961.4(SYNE1):c.6268G>C (p.Glu2090Gln)
|
rs374482089
|
0.00008
|
|
NM_182961.4(SYNE1):c.7052G>A (p.Ser2351Asn)
|
rs151039167
|
0.00008
|
|
NM_182961.4(SYNE1):c.9448G>A (p.Ala3150Thr)
|
rs141821444
|
0.00008
|
|
NM_182961.4(SYNE1):c.9719T>C (p.Leu3240Pro)
|
rs56308121
|
0.00008
|
|
NM_000784.4(CYP27A1):c.1114G>A (p.Gly372Arg)
|
rs369969903
|
0.00007
|
|
NM_000784.4(CYP27A1):c.593C>T (p.Ser198Leu)
|
rs563736306
|
0.00007
|
|
NM_000784.4(CYP27A1):c.702C>T (p.Pro234=)
|
rs371636461
|
0.00007
|
|
NM_000784.4(CYP27A1):c.878T>C (p.Met293Thr)
|
rs368735609
|
0.00007
|
|
NM_001077418.3(TMEM231):c.310-17C>T
|
rs752375895
|
0.00007
|
|
NM_001077418.3(TMEM231):c.376C>T (p.Leu126=)
|
rs557695110
|
0.00007
|
|
NM_001077418.3(TMEM231):c.624C>T (p.Tyr208=)
|
rs368594302
|
0.00007
|
|
NM_001077418.3(TMEM231):c.870C>T (p.Phe290=)
|
rs541349898
|
0.00007
|
|
NM_001329943.3(KIAA0586):c.1077G>A (p.Lys359=)
|
rs199623501
|
0.00007
|
|
NM_001329943.3(KIAA0586):c.1752C>G (p.Thr584=)
|
rs534407882
|
0.00007
|
|
NM_001329943.3(KIAA0586):c.1846G>T (p.Gly616Cys)
|
rs766453312
|
0.00007
|
|
NM_001329943.3(KIAA0586):c.2943T>G (p.Ile981Met)
|
rs370778483
|
0.00007
|
|
NM_001329943.3(KIAA0586):c.962-15A>C
|
rs767414174
|
0.00007
|
|
NM_001378969.1(KCND3):c.1703G>A (p.Arg568His)
|
rs200212002
|
0.00007
|
|
NM_001382391.1(CSPP1):c.1141C>T (p.Leu381=)
|
rs539302524
|
0.00007
|
|
NM_001382391.1(CSPP1):c.1775C>G (p.Pro592Arg)
|
rs767318500
|
0.00007
|
|
NM_001382391.1(CSPP1):c.1793C>T (p.Ser598Leu)
|
rs752648207
|
0.00007
|
|
NM_001382391.1(CSPP1):c.244C>T (p.Arg82Trp)
|
rs1024300760
|
0.00007
|
|
NM_001382391.1(CSPP1):c.2480A>G (p.Tyr827Cys)
|
rs185130908
|
0.00007
|
|
NM_001382391.1(CSPP1):c.3109G>A (p.Val1037Ile)
|
rs200546493
|
0.00007
|
|
NM_001382391.1(CSPP1):c.3457C>T (p.Pro1153Ser)
|
rs181079660
|
0.00007
|
|
NM_001382391.1(CSPP1):c.422A>G (p.Gln141Arg)
|
rs775754786
|
0.00007
|
|
NM_001382391.1(CSPP1):c.958A>G (p.Met320Val)
|
rs775759544
|
0.00007
|
|
NM_015046.7(SETX):c.2469C>G (p.Phe823Leu)
|
rs141163823
|
0.00007
|
|
NM_015046.7(SETX):c.4204A>T (p.Thr1402Ser)
|
rs150421712
|
0.00007
|
|
NM_015046.7(SETX):c.4353A>G (p.Val1451=)
|
rs771367273
|
0.00007
|
|
NM_015046.7(SETX):c.5536C>T (p.Arg1846Cys)
|
rs551406712
|
0.00007
|
|
NM_016169.4(SUFU):c.1023-20T>C
|
rs373445321
|
0.00007
|
|
NM_016169.4(SUFU):c.625C>T (p.His209Tyr)
|
rs770678862
|
0.00007
|
|
NM_016373.4(WWOX):c.1125C>T (p.Tyr375=)
|
rs372703745
|
0.00007
|
|
NM_016373.4(WWOX):c.443G>C (p.Gly148Ala)
|
rs372660669
|
0.00007
|
|
NM_016373.4(WWOX):c.951G>A (p.Thr317=)
|
rs759801417
|
0.00007
|
|
NM_016373.4(WWOX):c.981G>A (p.Met327Ile)
|
rs758307666
|
0.00007
|
|
NM_018718.3(CEP41):c.305A>G (p.Asp102Gly)
|
rs781835148
|
0.00007
|
|
NM_182961.4(SYNE1):c.12399A>G (p.Glu4133=)
|
rs368597714
|
0.00007
|
|
NM_182961.4(SYNE1):c.15175C>T (p.Leu5059=)
|
rs763930147
|
0.00007
|
|
NM_182961.4(SYNE1):c.15469G>A (p.Glu5157Lys)
|
rs187403476
|
0.00007
|
|
NM_182961.4(SYNE1):c.1632+12G>T
|
rs765558597
|
0.00007
|
|
NM_182961.4(SYNE1):c.16786G>A (p.Val5596Met)
|
rs148158986
|
0.00007
|
|
NM_182961.4(SYNE1):c.17347-6C>T
|
rs201692248
|
0.00007
|
|
NM_182961.4(SYNE1):c.17841A>G (p.Leu5947=)
|
rs143490673
|
0.00007
|
|
NM_182961.4(SYNE1):c.18213G>A (p.Lys6071=)
|
rs942245024
|
0.00007
|
|
NM_182961.4(SYNE1):c.19424G>A (p.Arg6475Gln)
|
rs781427258
|
0.00007
|
|
NM_182961.4(SYNE1):c.20200-3T>C
|
rs770710698
|
0.00007
|
|
NM_182961.4(SYNE1):c.21061T>C (p.Leu7021=)
|
rs202172980
|
0.00007
|
|
NM_182961.4(SYNE1):c.22038A>G (p.Ser7346=)
|
rs201392317
|
0.00007
|
|
NM_182961.4(SYNE1):c.24348G>A (p.Ala8116=)
|
rs371204427
|
0.00007
|
|
NM_182961.4(SYNE1):c.2448G>A (p.Pro816=)
|
rs375111758
|
0.00007
|
|
NM_182961.4(SYNE1):c.2569-7G>A
|
rs372744173
|
0.00007
|
|
NM_182961.4(SYNE1):c.26210G>T (p.Gly8737Val)
|
rs772814249
|
0.00007
|
|
NM_182961.4(SYNE1):c.2630A>G (p.Gln877Arg)
|
rs369192821
|
0.00007
|
|
NM_182961.4(SYNE1):c.26330C>G (p.Ser8777Cys)
|
rs377446250
|
0.00007
|
|
NM_182961.4(SYNE1):c.2991G>A (p.Leu997=)
|
rs1014746277
|
0.00007
|
|
NM_182961.4(SYNE1):c.3500T>C (p.Val1167Ala)
|
rs555800735
|
0.00007
|
|
NM_182961.4(SYNE1):c.3934G>A (p.Glu1312Lys)
|
rs200276242
|
0.00007
|
|
NM_182961.4(SYNE1):c.4377C>T (p.Ser1459=)
|
rs146567226
|
0.00007
|
|
NM_182961.4(SYNE1):c.6231-8C>T
|
rs777108375
|
0.00007
|
|
NM_182961.4(SYNE1):c.6254T>C (p.Ile2085Thr)
|
rs577979265
|
0.00007
|
|
NM_182961.4(SYNE1):c.8812T>C (p.Phe2938Leu)
|
rs919427159
|
0.00007
|
|
NM_182961.4(SYNE1):c.952G>A (p.Val318Ile)
|
rs373619878
|
0.00007
|
|
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.515C>T (p.Ala172Val)
|
rs200753815
|
0.00006
|
|
NM_000784.4(CYP27A1):c.536A>G (p.Asn179Ser)
|
rs145080072
|
0.00006
|
|
NM_000784.4(CYP27A1):c.546T>G (p.Ile182Met)
|
rs149366157
|
0.00006
|
|
NM_000784.4(CYP27A1):c.712G>A (p.Val238Met)
|
rs199691576
|
0.00006
|
|
NM_000784.4(CYP27A1):c.790G>A (p.Val264Met)
|
rs201500822
|
0.00006
|
|
NM_000784.4(CYP27A1):c.83A>C (p.Lys28Thr)
|
rs371449777
|
0.00006
|
|
NM_001044385.3(TMEM237):c.1160-1G>A
|
rs747465681
|
0.00006
|
|
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter)
|
rs199469707
|
0.00006
|
|
NM_001044385.3(TMEM237):c.738G>A (p.Val246=)
|
rs199947989
|
0.00006
|
|
NM_001044385.3(TMEM237):c.74+15C>T
|
rs375401635
|
0.00006
|
|
NM_001044385.3(TMEM237):c.79+15T>C
|
rs182250754
|
0.00006
|
|
NM_001077418.3(TMEM231):c.131G>A (p.Arg44Gln)
|
rs368402335
|
0.00006
|
|
NM_001077418.3(TMEM231):c.210G>T (p.Val70=)
|
rs757361739
|
0.00006
|
|
NM_001077418.3(TMEM231):c.454G>A (p.Val152Met)
|
rs762041003
|
0.00006
|
|
NM_001077418.3(TMEM231):c.582+6A>G
|
rs376300743
|
0.00006
|
|
NM_001077418.3(TMEM231):c.663C>T (p.Asn221=)
|
rs776287219
|
0.00006
|
|
NM_001077418.3(TMEM231):c.665-19G>A
|
rs200581224
|
0.00006
|
|
NM_001329943.3(KIAA0586):c.1253+3A>G
|
rs762698768
|
0.00006
|
|
NM_001329943.3(KIAA0586):c.1657G>C (p.Asp553His)
|
rs1214561950
|
0.00006
|
|
NM_001329943.3(KIAA0586):c.1785A>T (p.Val595=)
|
rs371990780
|
0.00006
|
|
NM_001329943.3(KIAA0586):c.1917T>G (p.Asp639Glu)
|
rs376649351
|
0.00006
|
|
NM_001329943.3(KIAA0586):c.2060-17A>T
|
rs753287970
|
0.00006
|
|
NM_001329943.3(KIAA0586):c.3031G>A (p.Glu1011Lys)
|
rs755889131
|
0.00006
|
|
NM_001329943.3(KIAA0586):c.3120T>G (p.Ala1040=)
|
rs755369049
|
0.00006
|
|
NM_001329943.3(KIAA0586):c.3698C>G (p.Thr1233Ser)
|
rs201702546
|
0.00006
|
|
NM_001329943.3(KIAA0586):c.3988G>A (p.Glu1330Lys)
|
rs373649439
|
0.00006
|
|
NM_001329943.3(KIAA0586):c.411-1365C>T
|
rs905321611
|
0.00006
|
|
NM_001329943.3(KIAA0586):c.4496-3801G>A
|
rs575409268
|
0.00006
|
|
NM_001329943.3(KIAA0586):c.568G>A (p.Ala190Thr)
|
rs755205238
|
0.00006
|
|
NM_001329943.3(KIAA0586):c.667C>T (p.Arg223Cys)
|
rs573870218
|
0.00006
|
|
NM_001329943.3(KIAA0586):c.783A>G (p.Leu261=)
|
rs370332963
|
0.00006
|
|
NM_001329943.3(KIAA0586):c.807+3A>T
|
rs771308299
|
0.00006
|
|
NM_001329943.3(KIAA0586):c.914T>C (p.Leu305Pro)
|
rs553130671
|
0.00006
|
|
NM_001329943.3(KIAA0586):c.938A>G (p.Tyr313Cys)
|
rs191232589
|
0.00006
|
|
NM_001329943.3(KIAA0586):c.987G>A (p.Thr329=)
|
rs552791846
|
0.00006
|
|
NM_001347702.2(SYNE1):c.1480C>T (p.Leu494Phe)
|
rs200854314
|
0.00006
|
|
NM_001378969.1(KCND3):c.1348C>T (p.Leu450Phe)
|
rs150401343
|
0.00006
|
|
NM_001378969.1(KCND3):c.1889G>A (p.Arg630Gln)
|
rs774713377
|
0.00006
|
|
NM_001378969.1(KCND3):c.651G>A (p.Pro217=)
|
rs186974111
|
0.00006
|
|
NM_001382391.1(CSPP1):c.1043C>A (p.Ser348Tyr)
|
rs374330054
|
0.00006
|
|
NM_001382391.1(CSPP1):c.1209G>A (p.Arg403=)
|
rs370123119
|
0.00006
|
|
NM_001382391.1(CSPP1):c.1501G>A (p.Ala501Thr)
|
rs533227813
|
0.00006
|
|
NM_001382391.1(CSPP1):c.2419C>T (p.Arg807Trp)
|
rs757384412
|
0.00006
|
|
NM_001382391.1(CSPP1):c.2522T>C (p.Ile841Thr)
|
rs376353407
|
0.00006
|
|
NM_001382391.1(CSPP1):c.2524G>A (p.Gly842Arg)
|
rs371072368
|
0.00006
|
|
NM_001382391.1(CSPP1):c.2804A>G (p.Asp935Gly)
|
rs374765060
|
0.00006
|
|
NM_001382391.1(CSPP1):c.2841G>A (p.Arg947=)
|
rs368660068
|
0.00006
|
|
NM_001382391.1(CSPP1):c.5C>T (p.Ala2Val)
|
rs553988238
|
0.00006
|
|
NM_015046.7(SETX):c.1227A>G (p.Leu409=)
|
rs769913556
|
0.00006
|
|
NM_015046.7(SETX):c.1497G>A (p.Ala499=)
|
rs142936332
|
0.00006
|
|
NM_015046.7(SETX):c.1690T>G (p.Leu564Val)
|
rs761877146
|
0.00006
|
|
NM_015046.7(SETX):c.1880T>C (p.Met627Thr)
|
rs199707503
|
0.00006
|
|
NM_015046.7(SETX):c.234G>A (p.Lys78=)
|
rs146206138
|
0.00006
|
|
NM_015046.7(SETX):c.2688G>T (p.Leu896Phe)
|
rs370551247
|
0.00006
|
|
NM_015046.7(SETX):c.2717C>T (p.Ser906Leu)
|
rs148375192
|
0.00006
|
|
NM_015046.7(SETX):c.2994C>T (p.Phe998=)
|
rs534579992
|
0.00006
|
|
NM_015046.7(SETX):c.3016G>A (p.Gly1006Arg)
|
rs141266068
|
0.00006
|
|
NM_015046.7(SETX):c.3207T>A (p.Thr1069=)
|
rs200585636
|
0.00006
|
|
NM_015046.7(SETX):c.3210T>C (p.Leu1070=)
|
rs145014082
|
0.00006
|
|
NM_015046.7(SETX):c.3815A>G (p.Lys1272Arg)
|
rs202204341
|
0.00006
|
|
NM_015046.7(SETX):c.4136A>G (p.His1379Arg)
|
rs181158146
|
0.00006
|
|
NM_015046.7(SETX):c.5274+8T>C
|
rs369501754
|
0.00006
|
|
NM_015046.7(SETX):c.5616C>T (p.Asn1872=)
|
rs201472554
|
0.00006
|
|
NM_015046.7(SETX):c.5712A>G (p.Arg1904=)
|
rs750372437
|
0.00006
|
|
NM_015046.7(SETX):c.5853C>G (p.His1951Gln)
|
rs928020122
|
0.00006
|
|
NM_015046.7(SETX):c.6161G>A (p.Ser2054Asn)
|
rs200778360
|
0.00006
|
|
NM_015046.7(SETX):c.658A>C (p.Lys220Gln)
|
rs761180215
|
0.00006
|
|
NM_015046.7(SETX):c.6675C>T (p.Tyr2225=)
|
rs200382898
|
0.00006
|
|
NM_015046.7(SETX):c.7439C>T (p.Ala2480Val)
|
rs376524608
|
0.00006
|
|
NM_015046.7(SETX):c.7597C>T (p.His2533Tyr)
|
rs202121071
|
0.00006
|
|
NM_015046.7(SETX):c.7660T>A (p.Phe2554Ile)
|
rs368269464
|
0.00006
|
|
NM_015046.7(SETX):c.768G>T (p.Leu256=)
|
rs759468738
|
0.00006
|
|
NM_015046.7(SETX):c.7874C>T (p.Pro2625Leu)
|
rs553413088
|
0.00006
|
|
NM_015046.7(SETX):c.93A>G (p.Gln31=)
|
rs201795631
|
0.00006
|
|
NM_016169.4(SUFU):c.1105G>A (p.Val369Ile)
|
rs149449923
|
0.00006
|
|
NM_016169.4(SUFU):c.1113G>A (p.Leu371=)
|
rs745349651
|
0.00006
|
|
NM_016169.4(SUFU):c.1273G>A (p.Ala425Thr)
|
rs748099523
|
0.00006
|
|
NM_016169.4(SUFU):c.38C>T (p.Thr13Ile)
|
rs768935165
|
0.00006
|
|
NM_016169.4(SUFU):c.757-20C>T
|
rs370544916
|
0.00006
|
|
NM_016169.4(SUFU):c.911-7G>A
|
rs558661774
|
0.00006
|
|
NM_016169.4(SUFU):c.925C>T (p.Arg309Trp)
|
rs148160011
|
0.00006
|
|
NM_016373.4(WWOX):c.1145G>A (p.Cys382Tyr)
|
rs199585408
|
0.00006
|
|
NM_016373.4(WWOX):c.421G>A (p.Ala141Thr)
|
rs369907002
|
0.00006
|
|
NM_016373.4(WWOX):c.533A>G (p.Glu178Gly)
|
rs764588235
|
0.00006
|
|
NM_016373.4(WWOX):c.749C>G (p.Ser250Ter)
|
rs368928190
|
0.00006
|
|
NM_016373.4(WWOX):c.840C>G (p.Leu280=)
|
rs772356641
|
0.00006
|
|
NM_016373.4(WWOX):c.925C>T (p.Arg309Cys)
|
rs761545702
|
0.00006
|
|
NM_016373.4(WWOX):c.958G>A (p.Ala320Thr)
|
rs368670215
|
0.00006
|
|
NM_016464.5(TMEM138):c.81C>T (p.Phe27=)
|
rs149327827
|
0.00006
|
|
NM_018718.3(CEP41):c.1000G>A (p.Gly334Arg)
|
rs564625875
|
0.00006
|
|
NM_018718.3(CEP41):c.1032C>T (p.Ser344=)
|
rs189895981
|
0.00006
|
|
NM_018718.3(CEP41):c.320C>G (p.Ala107Gly)
|
rs141025803
|
0.00006
|
|
NM_018718.3(CEP41):c.407G>A (p.Arg136His)
|
rs546106020
|
0.00006
|
|
NM_018718.3(CEP41):c.957G>A (p.Gly319=)
|
rs367931878
|
0.00006
|
|
NM_022464.5(SIL1):c.1030-9G>A
|
rs370290043
|
0.00006
|
|
NM_182961.4(SYNE1):c.10149A>G (p.Gln3383=)
|
rs369227827
|
0.00006
|
|
NM_182961.4(SYNE1):c.10160C>G (p.Ala3387Gly)
|
rs201621810
|
0.00006
|
|
NM_182961.4(SYNE1):c.10300-6C>T
|
rs762645232
|
0.00006
|
|
NM_182961.4(SYNE1):c.10785C>T (p.Asn3595=)
|
rs377049622
|
0.00006
|
|
NM_182961.4(SYNE1):c.10935C>T (p.His3645=)
|
rs201704617
|
0.00006
|
|
NM_182961.4(SYNE1):c.11475C>G (p.Cys3825Trp)
|
rs146919170
|
0.00006
|
|
NM_182961.4(SYNE1):c.11999C>A (p.Ala4000Glu)
|
rs375752705
|
0.00006
|
|
NM_182961.4(SYNE1):c.12355G>A (p.Glu4119Lys)
|
rs148935596
|
0.00006
|
|
NM_182961.4(SYNE1):c.12667C>T (p.Arg4223Cys)
|
rs145738035
|
0.00006
|
|
NM_182961.4(SYNE1):c.12798T>A (p.Ser4266=)
|
rs373438870
|
0.00006
|
|
NM_182961.4(SYNE1):c.13031A>T (p.Glu4344Val)
|
rs145639107
|
0.00006
|
|
NM_182961.4(SYNE1):c.13102G>A (p.Ala4368Thr)
|
rs201900423
|
0.00006
|
|
NM_182961.4(SYNE1):c.13208C>T (p.Ser4403Leu)
|
rs139490297
|
0.00006
|
|
NM_182961.4(SYNE1):c.1330C>T (p.Arg444Trp)
|
rs75153800
|
0.00006
|
|
NM_182961.4(SYNE1):c.13631A>C (p.Asp4544Ala)
|
rs149081144
|
0.00006
|
|
NM_182961.4(SYNE1):c.13656C>A (p.His4552Gln)
|
rs1267929537
|
0.00006
|
|
NM_182961.4(SYNE1):c.13852C>A (p.Leu4618Ile)
|
rs147125369
|
0.00006
|
|
NM_182961.4(SYNE1):c.14258T>C (p.Leu4753Pro)
|
rs371189077
|
0.00006
|
|
NM_182961.4(SYNE1):c.14314T>G (p.Leu4772Val)
|
rs143910248
|
0.00006
|
|
NM_182961.4(SYNE1):c.14727G>A (p.Gly4909=)
|
rs767294195
|
0.00006
|
|
NM_182961.4(SYNE1):c.1665A>C (p.Gln555His)
|
rs561648669
|
0.00006
|
|
NM_182961.4(SYNE1):c.18783A>G (p.Gln6261=)
|
rs774395991
|
0.00006
|
|
NM_182961.4(SYNE1):c.18946G>A (p.Val6316Ile)
|
rs557729565
|
0.00006
|
|
NM_182961.4(SYNE1):c.19544T>C (p.Phe6515Ser)
|
rs747674900
|
0.00006
|
|
NM_182961.4(SYNE1):c.19693-15G>A
|
rs187885923
|
0.00006
|
|
NM_182961.4(SYNE1):c.20027G>A (p.Arg6676Gln)
|
rs190673256
|
0.00006
|
|
NM_182961.4(SYNE1):c.20409A>G (p.Glu6803=)
|
rs375649094
|
0.00006
|
|
NM_182961.4(SYNE1):c.21657-20G>C
|
rs369177487
|
0.00006
|
|
NM_182961.4(SYNE1):c.21706G>A (p.Ala7236Thr)
|
rs202121741
|
0.00006
|
|
NM_182961.4(SYNE1):c.22016C>A (p.Ala7339Asp)
|
rs146907132
|
0.00006
|
|
NM_182961.4(SYNE1):c.22589+18T>C
|
rs200821668
|
0.00006
|
|
NM_182961.4(SYNE1):c.22590-17A>G
|
rs756803477
|
0.00006
|
|
NM_182961.4(SYNE1):c.22902G>A (p.Ser7634=)
|
rs140577642
|
0.00006
|
|
NM_182961.4(SYNE1):c.23874C>T (p.Asp7958=)
|
rs749141262
|
0.00006
|
|
NM_182961.4(SYNE1):c.23983G>A (p.Glu7995Lys)
|
rs781626097
|
0.00006
|
|
NM_182961.4(SYNE1):c.245G>A (p.Arg82Gln)
|
rs143900928
|
0.00006
|
|
NM_182961.4(SYNE1):c.25103C>T (p.Thr8368Ile)
|
rs371476665
|
0.00006
|
|
NM_182961.4(SYNE1):c.25283C>A (p.Ala8428Glu)
|
rs775901718
|
0.00006
|
|
NM_182961.4(SYNE1):c.25577A>C (p.Gln8526Pro)
|
rs770802176
|
0.00006
|
|
NM_182961.4(SYNE1):c.25952G>A (p.Arg8651His)
|
rs144888773
|
0.00006
|
|
NM_182961.4(SYNE1):c.2893-14C>T
|
rs914254176
|
0.00006
|
|
NM_182961.4(SYNE1):c.2893-5G>A
|
rs370196519
|
0.00006
|
|
NM_182961.4(SYNE1):c.310-468G>A
|
rs143635963
|
0.00006
|
|
NM_182961.4(SYNE1):c.334A>T (p.Thr112Ser)
|
rs750010888
|
0.00006
|
|
NM_182961.4(SYNE1):c.3433A>G (p.Thr1145Ala)
|
rs148733093
|
0.00006
|
|
NM_182961.4(SYNE1):c.3436C>G (p.Gln1146Glu)
|
rs760256766
|
0.00006
|
|
NM_182961.4(SYNE1):c.3872A>G (p.Asp1291Gly)
|
rs148000801
|
0.00006
|
|
NM_182961.4(SYNE1):c.3879G>A (p.Gln1293=)
|
rs754584363
|
0.00006
|
|
NM_182961.4(SYNE1):c.4053A>T (p.Thr1351=)
|
rs966425412
|
0.00006
|
|
NM_182961.4(SYNE1):c.4562G>A (p.Arg1521Gln)
|
rs149606474
|
0.00006
|
|
NM_182961.4(SYNE1):c.4749T>A (p.Ser1583=)
|
rs201761581
|
0.00006
|
|
NM_182961.4(SYNE1):c.4819A>G (p.Ser1607Gly)
|
rs752342922
|
0.00006
|
|
NM_182961.4(SYNE1):c.5049G>T (p.Met1683Ile)
|
rs755866233
|
0.00006
|
|
NM_182961.4(SYNE1):c.5228A>G (p.Asp1743Gly)
|
rs555731770
|
0.00006
|
|
NM_182961.4(SYNE1):c.5392G>T (p.Asp1798Tyr)
|
rs772266857
|
0.00006
|
|
NM_182961.4(SYNE1):c.5441A>G (p.Glu1814Gly)
|
rs557081125
|
0.00006
|
|
NM_182961.4(SYNE1):c.5644G>T (p.Gly1882Cys)
|
rs747706541
|
0.00006
|
|
NM_182961.4(SYNE1):c.581+7A>G
|
rs367617527
|
0.00006
|
|
NM_182961.4(SYNE1):c.6021A>G (p.Lys2007=)
|
rs533039765
|
0.00006
|
|
NM_182961.4(SYNE1):c.6094G>A (p.Glu2032Lys)
|
rs367594476
|
0.00006
|
|
NM_182961.4(SYNE1):c.6603T>C (p.Asp2201=)
|
rs199965276
|
0.00006
|
|
NM_182961.4(SYNE1):c.666G>A (p.Pro222=)
|
rs141368652
|
0.00006
|
|
NM_182961.4(SYNE1):c.7308C>T (p.Thr2436=)
|
rs144910464
|
0.00006
|
|
NM_182961.4(SYNE1):c.7474G>T (p.Ala2492Ser)
|
rs761396972
|
0.00006
|
|
NM_182961.4(SYNE1):c.7478A>G (p.Asn2493Ser)
|
rs763615170
|
0.00006
|
|
NM_182961.4(SYNE1):c.8403C>T (p.Tyr2801=)
|
rs757104773
|
0.00006
|
|
NM_182961.4(SYNE1):c.8488-15T>G
|
rs754541640
|
0.00006
|
|
NM_182961.4(SYNE1):c.8652+14C>T
|
rs761672973
|
0.00006
|
|
NM_182961.4(SYNE1):c.8716G>A (p.Glu2906Lys)
|
rs140568392
|
0.00006
|
|
NM_182961.4(SYNE1):c.9117A>C (p.Lys3039Asn)
|
rs77221231
|
0.00006
|
|
NM_182961.4(SYNE1):c.9738C>T (p.Ala3246=)
|
rs140123292
|
0.00006
|
|
NM_182961.4(SYNE1):c.9807+6G>A
|
rs376694958
|
0.00006
|
|
NM_182961.4(SYNE1):c.9896C>T (p.Ala3299Val)
|
rs373760161
|
0.00006
|
|
NM_000784.4(CYP27A1):c.1152G>A (p.Pro384=)
|
rs373428306
|
0.00005
|
|
NM_000784.4(CYP27A1):c.1185-3C>A
|
rs373628198
|
0.00005
|
|
NM_000784.4(CYP27A1):c.151C>T (p.Arg51Trp)
|
rs570721628
|
0.00005
|
|
NM_000784.4(CYP27A1):c.1595G>A (p.Ter532=)
|
rs150091721
|
0.00005
|
|
NM_000784.4(CYP27A1):c.283A>G (p.Met95Val)
|
rs372772968
|
0.00005
|
|
NM_000784.4(CYP27A1):c.447-11C>T
|
rs746577389
|
0.00005
|
|
NM_000784.4(CYP27A1):c.472C>T (p.Arg158Cys)
|
rs774541162
|
0.00005
|
|
NM_000784.4(CYP27A1):c.490C>T (p.Arg164Trp)
|
rs61733615
|
0.00005
|
|
NM_000784.4(CYP27A1):c.547G>A (p.Asp183Asn)
|
rs751280804
|
0.00005
|
|
NM_000784.4(CYP27A1):c.61T>C (p.Cys21Arg)
|
rs751804153
|
0.00005
|
|
NM_000784.4(CYP27A1):c.711C>T (p.Thr237=)
|
rs375163463
|
0.00005
|
|
NM_000784.4(CYP27A1):c.93C>T (p.Ile31=)
|
rs780332239
|
0.00005
|
|
NM_001044385.3(TMEM237):c.137-14C>G
|
rs760624801
|
0.00005
|
|
NM_001044385.3(TMEM237):c.42+1G>A
|
rs1378726802
|
0.00005
|
|
NM_001077418.2(TMEM231):c.-62A>C
|
rs964025567
|
0.00005
|
|
NM_001077418.3(TMEM231):c.664+4A>G
|
rs760426025
|
0.00005
|
|
NM_001077418.3(TMEM231):c.664G>A (p.Val222Ile)
|
rs397514753
|
0.00005
|
|
NM_001077418.3(TMEM231):c.672C>T (p.Thr224=)
|
rs769897831
|
0.00005
|
|
NM_001329943.3(KIAA0586):c.3774C>G (p.Ala1258=)
|
rs199982600
|
0.00005
|
|
NM_001329943.3(KIAA0586):c.411-1495T>C
|
rs1364313825
|
0.00005
|
|
NM_001329943.3(KIAA0586):c.4113T>C (p.Ser1371=)
|
rs200906427
|
0.00005
|
|
NM_001329943.3(KIAA0586):c.4449T>C (p.Asp1483=)
|
rs538659713
|
0.00005
|
|
NM_001329943.3(KIAA0586):c.534C>T (p.Thr178=)
|
rs762154780
|
0.00005
|
|
NM_001329943.3(KIAA0586):c.928C>T (p.Pro310Ser)
|
rs1054781365
|
0.00005
|
|
NM_001329943.3(KIAA0586):c.968T>C (p.Leu323Ser)
|
rs563531719
|
0.00005
|
|
NM_001378969.1(KCND3):c.1308C>G (p.Gly436=)
|
rs190703406
|
0.00005
|
|
NM_001378969.1(KCND3):c.1769G>A (p.Arg590His)
|
rs186194682
|
0.00005
|
|
NM_001378969.1(KCND3):c.1798G>A (p.Gly600Arg)
|
rs149344567
|
0.00005
|
|
NM_001382391.1(CSPP1):c.113C>T (p.Ala38Val)
|
rs201536815
|
0.00005
|
|
NM_001382391.1(CSPP1):c.1639G>A (p.Val547Ile)
|
rs772097768
|
0.00005
|
|
NM_001382391.1(CSPP1):c.1842A>C (p.Glu614Asp)
|
rs759299114
|
0.00005
|
|
NM_001382391.1(CSPP1):c.1946C>T (p.Pro649Leu)
|
rs376210928
|
0.00005
|
|
NM_001382391.1(CSPP1):c.2267A>G (p.Glu756Gly)
|
rs559765139
|
0.00005
|
|
NM_001382391.1(CSPP1):c.2420G>A (p.Arg807Gln)
|
rs779204541
|
0.00005
|
|
NM_001382391.1(CSPP1):c.2702G>A (p.Arg901His)
|
rs375978348
|
0.00005
|
|
NM_001382391.1(CSPP1):c.2710+6G>A
|
rs369255080
|
0.00005
|
|
NM_001382391.1(CSPP1):c.3157-7C>T
|
rs750714624
|
0.00005
|
|
NM_015046.7(SETX):c.1015A>C (p.Lys339Gln)
|
rs768437607
|
0.00005
|
|
NM_015046.7(SETX):c.2862G>A (p.Thr954=)
|
rs149610510
|
0.00005
|
|
NM_015046.7(SETX):c.3056C>A (p.Ser1019Tyr)
|
rs749204574
|
0.00005
|
|
NM_015046.7(SETX):c.4051C>G (p.Gln1351Glu)
|
rs375241191
|
0.00005
|
|
NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr)
|
rs373375060
|
0.00005
|
|
NM_015046.7(SETX):c.4865C>T (p.Pro1622Leu)
|
rs140781535
|
0.00005
|
|
NM_015046.7(SETX):c.4A>G (p.Ser2Gly)
|
rs149808180
|
0.00005
|
|
NM_015046.7(SETX):c.5104G>A (p.Val1702Ile)
|
rs61745659
|
0.00005
|
|
NM_015046.7(SETX):c.7164G>C (p.Thr2388=)
|
rs368602563
|
0.00005
|
|
NM_015046.7(SETX):c.718+14C>A
|
rs762900574
|
0.00005
|
|
NM_015046.7(SETX):c.7406T>C (p.Leu2469Pro)
|
rs151304085
|
0.00005
|
|
NM_015046.7(SETX):c.807G>A (p.Ser269=)
|
rs147677608
|
0.00005
|
|
NM_015046.7(SETX):c.991A>G (p.Ile331Val)
|
rs572884359
|
0.00005
|
|
NM_016169.4(SUFU):c.1059G>A (p.Thr353=)
|
rs780683814
|
0.00005
|
|
NM_016169.4(SUFU):c.183-4G>A
|
rs766044613
|
0.00005
|
|
NM_016169.4(SUFU):c.43C>A (p.Pro15Thr)
|
rs761921681
|
0.00005
|
|
NM_016169.4(SUFU):c.992G>A (p.Arg331Gln)
|
rs141359583
|
0.00005
|
|
NM_016373.4(WWOX):c.1077C>T (p.Thr359=)
|
rs150912992
|
0.00005
|
|
NM_016373.4(WWOX):c.231-9T>C
|
rs766689304
|
0.00005
|
|
NM_016373.4(WWOX):c.315A>G (p.Gln105=)
|
rs752822745
|
0.00005
|
|
NM_016373.4(WWOX):c.324C>T (p.Asp108=)
|
rs377442022
|
0.00005
|
|
NM_016373.4(WWOX):c.445G>A (p.Ala149Thr)
|
rs200820063
|
0.00005
|
|
NM_016373.4(WWOX):c.508G>A (p.Glu170Lys)
|
rs758121265
|
0.00005
|
|
NM_016373.4(WWOX):c.630C>T (p.Asn210=)
|
rs547619401
|
0.00005
|
|
NM_016373.4(WWOX):c.867G>A (p.Ala289=)
|
rs755002954
|
0.00005
|
|
NM_016464.5(TMEM138):c.457C>G (p.Leu153Val)
|
rs745506522
|
0.00005
|
|
NM_016464.5(TMEM138):c.82T>G (p.Ser28Ala)
|
rs764405866
|
0.00005
|
|
NM_018718.3(CEP41):c.146-11A>G
|
rs781817949
|
0.00005
|
|
NM_018718.3(CEP41):c.786G>A (p.Pro262=)
|
rs782460743
|
0.00005
|
|
NM_022464.5(SIL1):c.1125A>G (p.Glu375=)
|
rs149424114
|
0.00005
|
|
NM_182961.4(SYNE1):c.10048A>G (p.Asn3350Asp)
|
rs145117891
|
0.00005
|
|
NM_182961.4(SYNE1):c.10443+5G>A
|
rs557835636
|
0.00005
|
|
NM_182961.4(SYNE1):c.1048-4T>C
|
rs894164368
|
0.00005
|
|
NM_182961.4(SYNE1):c.1113A>G (p.Pro371=)
|
rs374376301
|
0.00005
|
|
NM_182961.4(SYNE1):c.11668G>A (p.Val3890Ile)
|
rs760680769
|
0.00005
|
|
NM_182961.4(SYNE1):c.118C>T (p.His40Tyr)
|
rs141719907
|
0.00005
|
|
NM_182961.4(SYNE1):c.12142T>G (p.Cys4048Gly)
|
rs377526133
|
0.00005
|
|
NM_182961.4(SYNE1):c.12565G>A (p.Val4189Met)
|
rs148204741
|
0.00005
|
|
NM_182961.4(SYNE1):c.12794+19T>C
|
rs770394935
|
0.00005
|
|
NM_182961.4(SYNE1):c.12958C>T (p.His4320Tyr)
|
rs775930653
|
0.00005
|
|
NM_182961.4(SYNE1):c.13718A>C (p.Lys4573Thr)
|
rs368653411
|
0.00005
|
|
NM_182961.4(SYNE1):c.15917+10C>T
|
rs1434685633
|
0.00005
|
|
NM_182961.4(SYNE1):c.16094C>T (p.Thr5365Ile)
|
rs1273141730
|
0.00005
|
|
NM_182961.4(SYNE1):c.16568A>G (p.Asn5523Ser)
|
rs773901491
|
0.00005
|
|
NM_182961.4(SYNE1):c.16572+11C>T
|
rs181304168
|
0.00005
|
|
NM_182961.4(SYNE1):c.16928A>G (p.Lys5643Arg)
|
rs144714939
|
0.00005
|
|
NM_182961.4(SYNE1):c.17576C>T (p.Pro5859Leu)
|
rs769058871
|
0.00005
|
|
NM_182961.4(SYNE1):c.17848G>C (p.Val5950Leu)
|
rs200589166
|
0.00005
|
|
NM_182961.4(SYNE1):c.18727G>A (p.Glu6243Lys)
|
rs200360218
|
0.00005
|
|
NM_182961.4(SYNE1):c.19111G>A (p.Gly6371Arg)
|
rs572189966
|
0.00005
|
|
NM_182961.4(SYNE1):c.19729C>T (p.Arg6577Trp)
|
rs368534747
|
0.00005
|
|
NM_182961.4(SYNE1):c.19849G>A (p.Val6617Met)
|
rs184210675
|
0.00005
|
|
NM_182961.4(SYNE1):c.20069C>T (p.Thr6690Met)
|
rs143674856
|
0.00005
|
|
NM_182961.4(SYNE1):c.20738G>A (p.Arg6913His)
|
rs760706012
|
0.00005
|
|
NM_182961.4(SYNE1):c.20898A>G (p.Thr6966=)
|
rs766515787
|
0.00005
|
|
NM_182961.4(SYNE1):c.20960G>A (p.Ser6987Asn)
|
rs779301586
|
0.00005
|
|
NM_182961.4(SYNE1):c.21322G>A (p.Gly7108Ser)
|
rs777227521
|
0.00005
|
|
NM_182961.4(SYNE1):c.21502G>A (p.Val7168Ile)
|
rs760451139
|
0.00005
|
|
NM_182961.4(SYNE1):c.2174C>T (p.Thr725Met)
|
rs374866393
|
0.00005
|
|
NM_182961.4(SYNE1):c.21862-5T>C
|
rs773382528
|
0.00005
|
|
NM_182961.4(SYNE1):c.22519C>T (p.Arg7507Cys)
|
rs141278167
|
0.00005
|
|
NM_182961.4(SYNE1):c.23168G>A (p.Ser7723Asn)
|
rs146280967
|
0.00005
|
|
NM_182961.4(SYNE1):c.23664G>A (p.Gln7888=)
|
rs375008462
|
0.00005
|
|
NM_182961.4(SYNE1):c.23919G>A (p.Thr7973=)
|
rs767628258
|
0.00005
|
|
NM_182961.4(SYNE1):c.24301C>T (p.Arg8101Cys)
|
rs772622270
|
0.00005
|
|
NM_182961.4(SYNE1):c.24634C>T (p.Arg8212Cys)
|
rs139885317
|
0.00005
|
|
NM_182961.4(SYNE1):c.24862G>A (p.Asp8288Asn)
|
rs748216902
|
0.00005
|
|
NM_182961.4(SYNE1):c.25459-7T>G
|
rs367972414
|
0.00005
|
|
NM_182961.4(SYNE1):c.25907A>G (p.His8636Arg)
|
rs759004104
|
0.00005
|
|
NM_182961.4(SYNE1):c.26093C>T (p.Thr8698Met)
|
rs139560053
|
0.00005
|
|
NM_182961.4(SYNE1):c.2818G>A (p.Glu940Lys)
|
rs757479164
|
0.00005
|
|
NM_182961.4(SYNE1):c.310-459A>G
|
rs371580053
|
0.00005
|
|
NM_182961.4(SYNE1):c.3269T>G (p.Val1090Gly)
|
rs539464964
|
0.00005
|
|
NM_182961.4(SYNE1):c.3303T>C (p.Cys1101=)
|
rs369863768
|
0.00005
|
|
NM_182961.4(SYNE1):c.3975G>A (p.Glu1325=)
|
rs372832470
|
0.00005
|
|
NM_182961.4(SYNE1):c.4000C>T (p.Arg1334Cys)
|
rs754120599
|
0.00005
|
|
NM_182961.4(SYNE1):c.6129G>A (p.Lys2043=)
|
rs1401669271
|
0.00005
|
|
NM_182961.4(SYNE1):c.6231-12T>C
|
rs370687503
|
0.00005
|
|
NM_182961.4(SYNE1):c.7523A>T (p.Gln2508Leu)
|
rs201127061
|
0.00005
|
|
NM_182961.4(SYNE1):c.7775G>T (p.Gly2592Val)
|
rs528549317
|
0.00005
|
|
NM_182961.4(SYNE1):c.8222G>A (p.Arg2741Lys)
|
rs181218387
|
0.00005
|
|
NM_182961.4(SYNE1):c.8946G>A (p.Gln2982=)
|
rs769033712
|
0.00005
|
|
NM_182961.4(SYNE1):c.9371T>C (p.Met3124Thr)
|
rs756079906
|
0.00005
|
|
NM_000784.4(CYP27A1):c.1025A>G (p.Asn342Ser)
|
rs778458082
|
0.00004
|
|
NM_000784.4(CYP27A1):c.1185-15T>C
|
rs117727806
|
0.00004
|
|
NM_000784.4(CYP27A1):c.1477-10T>C
|
rs372756101
|
0.00004
|
|
NM_000784.4(CYP27A1):c.1509G>A (p.Pro503=)
|
rs577558935
|
0.00004
|
|
NM_000784.4(CYP27A1):c.1569C>T (p.Gly523=)
|
rs748616891
|
0.00004
|
|
NM_000784.4(CYP27A1):c.1582C>T (p.Gln528Ter)
|
rs376609492
|
0.00004
|
|
NM_000784.4(CYP27A1):c.159G>A (p.Arg53=)
|
rs750652986
|
0.00004
|
|
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln)
|
rs587778818
|
0.00004
|
|
NM_000784.4(CYP27A1):c.501G>A (p.Lys167=)
|
rs921885901
|
0.00004
|
|
NM_000784.4(CYP27A1):c.545T>C (p.Ile182Thr)
|
rs556745324
|
0.00004
|
|
NM_000784.4(CYP27A1):c.562C>T (p.Arg188Ter)
|
rs188850202
|
0.00004
|
|
NM_000784.4(CYP27A1):c.608C>T (p.Ser203Leu)
|
rs186812403
|
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_001044385.3(TMEM237):c.1024A>G (p.Asn342Asp)
|
rs372686071
|
0.00004
|
|
NM_001044385.3(TMEM237):c.1176A>G (p.Ser392=)
|
rs773344011
|
0.00004
|
|
NM_001044385.3(TMEM237):c.274+11A>G
|
rs200487330
|
0.00004
|
|
NM_001044385.3(TMEM237):c.297A>G (p.Gln99=)
|
rs767711440
|
0.00004
|
|
NM_001044385.3(TMEM237):c.33G>A (p.Glu11=)
|
rs544767440
|
0.00004
|
|
NM_001044385.3(TMEM237):c.382C>T (p.Arg128Trp)
|
rs370790275
|
0.00004
|
|
NM_001044385.3(TMEM237):c.43-8C>T
|
rs759325746
|
0.00004
|
|
NM_001044385.3(TMEM237):c.541G>A (p.Val181Met)
|
rs755252433
|
0.00004
|
|
NM_001044385.3(TMEM237):c.553+9A>T
|
rs568158023
|
0.00004
|
|
NM_001044385.3(TMEM237):c.588A>G (p.Ile196Met)
|
rs374042611
|
0.00004
|
|
NM_001044385.3(TMEM237):c.656T>C (p.Leu219Pro)
|
rs200892635
|
0.00004
|
|
NM_001044385.3(TMEM237):c.686G>T (p.Gly229Val)
|
rs374399278
|
0.00004
|
|
NM_001044385.3(TMEM237):c.901C>T (p.Arg301Ter)
|
rs775449384
|
0.00004
|
|
NM_001077418.3(TMEM231):c.139+27C>T
|
rs773052053
|
0.00004
|
|
NM_001077418.3(TMEM231):c.140-33C>T
|
rs901311435
|
0.00004
|
|
NM_001077418.3(TMEM231):c.176C>A (p.Pro59Gln)
|
rs774528098
|
0.00004
|
|
NM_001077418.3(TMEM231):c.240C>T (p.Phe80=)
|
rs760694007
|
0.00004
|
|
NM_001077418.3(TMEM231):c.303C>T (p.Leu101=)
|
rs778118263
|
0.00004
|
|
NM_001077418.3(TMEM231):c.309+12C>A
|
rs561475784
|
0.00004
|
|
NM_001077418.3(TMEM231):c.438+5G>C
|
rs1472951348
|
0.00004
|
|
NM_001077418.3(TMEM231):c.575G>A (p.Arg192Gln)
|
rs756494100
|
0.00004
|
|
NM_001077418.3(TMEM231):c.625G>A (p.Asp209Asn)
|
rs200799769
|
0.00004
|
|
NM_001077418.3(TMEM231):c.665-10T>C
|
rs201237881
|
0.00004
|
|
NM_001077418.3(TMEM231):c.759G>A (p.Val253=)
|
rs1020757759
|
0.00004
|
|
NM_001077418.3(TMEM231):c.824G>C (p.Ser275Thr)
|
rs770469234
|
0.00004
|
|
NM_001077418.3(TMEM231):c.871G>A (p.Val291Met)
|
rs373660568
|
0.00004
|
|
NM_001077418.3(TMEM231):c.8T>A (p.Leu3His)
|
rs753292136
|
0.00004
|
|
NM_001329943.3(KIAA0586):c.1031G>A (p.Arg344His)
|
rs773375756
|
0.00004
|
|
NM_001329943.3(KIAA0586):c.1433A>G (p.Asn478Ser)
|
rs773524165
|
0.00004
|
|
NM_001329943.3(KIAA0586):c.1543G>A (p.Ala515Thr)
|
rs568910724
|
0.00004
|
|
NM_001329943.3(KIAA0586):c.1572A>G (p.Leu524=)
|
rs750393862
|
0.00004
|
|
NM_001329943.3(KIAA0586):c.1847G>C (p.Gly616Ala)
|
rs774592908
|
0.00004
|
|
NM_001329943.3(KIAA0586):c.1885-11T>C
|
rs1344938086
|
0.00004
|
|
NM_001329943.3(KIAA0586):c.2015C>G (p.Pro672Arg)
|
rs749825699
|
0.00004
|
|
NM_001329943.3(KIAA0586):c.2026C>T (p.Pro676Ser)
|
rs967603971
|
0.00004
|
|
NM_001329943.3(KIAA0586):c.2531C>A (p.Pro844His)
|
rs200490147
|
0.00004
|
|
NM_001329943.3(KIAA0586):c.271-11A>G
|
rs752733321
|
0.00004
|
|
NM_001329943.3(KIAA0586):c.3183G>A (p.Thr1061=)
|
rs369590767
|
0.00004
|
|
NM_001329943.3(KIAA0586):c.3257C>T (p.Ser1086Leu)
|
rs772256006
|
0.00004
|
|
NM_001329943.3(KIAA0586):c.3261T>A (p.Asp1087Glu)
|
rs1049863128
|
0.00004
|
|
NM_001329943.3(KIAA0586):c.3528-20A>G
|
rs759897107
|
0.00004
|
|
NM_001329943.3(KIAA0586):c.3556C>A (p.Pro1186Thr)
|
rs368136238
|
0.00004
|
|
NM_001329943.3(KIAA0586):c.3682A>G (p.Ser1228Gly)
|
rs761946256
|
0.00004
|
|
NM_001329943.3(KIAA0586):c.3729C>T (p.Pro1243=)
|
rs377467641
|
0.00004
|
|
NM_001329943.3(KIAA0586):c.3858+10G>A
|
rs1023641988
|
0.00004
|
|
NM_001329943.3(KIAA0586):c.4430-6dup
|
rs755622220
|
0.00004
|
|
NM_001329943.3(KIAA0586):c.4436C>G (p.Pro1479Arg)
|
rs374096160
|
0.00004
|
|
NM_001329943.3(KIAA0586):c.4495+3791G>A
|
rs924361010
|
0.00004
|
|
NM_001329943.3(KIAA0586):c.4646G>A (p.Ter1549=)
|
rs758764999
|
0.00004
|
|
NM_001329943.3(KIAA0586):c.576G>A (p.Pro192=)
|
rs369143869
|
0.00004
|
|
NM_001329943.3(KIAA0586):c.620T>C (p.Val207Ala)
|
rs199837404
|
0.00004
|
|
NM_001329943.3(KIAA0586):c.723T>C (p.His241=)
|
rs373333959
|
0.00004
|
|
NM_001378969.1(KCND3):c.1173C>T (p.Gly391=)
|
rs533201615
|
0.00004
|
|
NM_001378969.1(KCND3):c.1269+18G>A
|
rs372005674
|
0.00004
|
|
NM_001378969.1(KCND3):c.1649G>A (p.Arg550His)
|
rs151164490
|
0.00004
|
|
NM_001378969.1(KCND3):c.519C>T (p.Phe173=)
|
rs144600384
|
0.00004
|
|
NM_001378969.1(KCND3):c.618G>A (p.Pro206=)
|
rs200611538
|
0.00004
|
|
NM_001382391.1(CSPP1):c.1034A>G (p.Asn345Ser)
|
rs1372095738
|
0.00004
|
|
NM_001382391.1(CSPP1):c.132dup (p.Lys45Ter)
|
rs770296270
|
0.00004
|
|
NM_001382391.1(CSPP1):c.1432C>A (p.Pro478Thr)
|
rs371566997
|
0.00004
|
|
NM_001382391.1(CSPP1):c.15G>A (p.Leu5=)
|
rs755838311
|
0.00004
|
|
NM_001382391.1(CSPP1):c.1606A>C (p.Ser536Arg)
|
rs763307442
|
0.00004
|
|
NM_001382391.1(CSPP1):c.1619-4T>C
|
rs774722380
|
0.00004
|
|
NM_001382391.1(CSPP1):c.1683A>G (p.Leu561=)
|
rs754822898
|
0.00004
|
|
NM_001382391.1(CSPP1):c.1776G>A (p.Pro592=)
|
rs201940935
|
0.00004
|
|
NM_001382391.1(CSPP1):c.1827+5T>C
|
rs897591892
|
0.00004
|
|
NM_001382391.1(CSPP1):c.1983G>C (p.Leu661Phe)
|
rs374318063
|
0.00004
|
|
NM_001382391.1(CSPP1):c.2128+16T>G
|
rs770694705
|
0.00004
|
|
NM_001382391.1(CSPP1):c.2161C>T (p.Arg721Trp)
|
rs778822396
|
0.00004
|
|
NM_001382391.1(CSPP1):c.2282G>A (p.Arg761Lys)
|
rs753718429
|
0.00004
|
|
NM_001382391.1(CSPP1):c.2335C>T (p.Arg779Ter)
|
rs587777138
|
0.00004
|
|
NM_001382391.1(CSPP1):c.2784A>G (p.Gln928=)
|
rs754377738
|
0.00004
|
|
NM_001382391.1(CSPP1):c.2829-6C>A
|
rs202184488
|
0.00004
|
|
NM_001382391.1(CSPP1):c.3029C>G (p.Thr1010Ser)
|
rs750443075
|
0.00004
|
|
NM_001382391.1(CSPP1):c.3157-16A>G
|
rs374129705
|
0.00004
|
|
NM_001382391.1(CSPP1):c.3275C>T (p.Ser1092Leu)
|
rs768603321
|
0.00004
|
|
NM_001382391.1(CSPP1):c.3613G>C (p.Glu1205Gln)
|
rs201972175
|
0.00004
|
|
NM_001382391.1(CSPP1):c.484-4A>G
|
rs142440392
|
0.00004
|
|
NM_001382391.1(CSPP1):c.631C>T (p.Arg211Ter)
|
rs375113643
|
0.00004
|
|
NM_001382391.1(CSPP1):c.865A>G (p.Arg289Gly)
|
rs374744285
|
0.00004
|
|
NM_001382391.1(CSPP1):c.902C>T (p.Ser301Leu)
|
rs761172555
|
0.00004
|
|
NM_001382391.1(CSPP1):c.919G>A (p.Asp307Asn)
|
rs113092257
|
0.00004
|
|
NM_001382391.1(CSPP1):c.924-9G>A
|
rs199910808
|
0.00004
|
|
NM_015046.7(SETX):c.1140T>G (p.Pro380=)
|
rs140553290
|
0.00004
|
|
NM_015046.7(SETX):c.1416A>T (p.Lys472Asn)
|
rs886063558
|
0.00004
|
|
NM_015046.7(SETX):c.1468G>A (p.Val490Ile)
|
rs763545230
|
0.00004
|
|
NM_015046.7(SETX):c.1626C>T (p.Leu542=)
|
rs746541015
|
0.00004
|
|
NM_015046.7(SETX):c.1750C>G (p.Leu584Val)
|
rs764995848
|
0.00004
|
|
NM_015046.7(SETX):c.1754A>G (p.Gln585Arg)
|
rs188247474
|
0.00004
|
|
NM_015046.7(SETX):c.2176T>C (p.Cys726Arg)
|
rs377734748
|
0.00004
|
|
NM_015046.7(SETX):c.2234G>A (p.Arg745His)
|
rs373933140
|
0.00004
|
|
NM_015046.7(SETX):c.2261C>G (p.Ala754Gly)
|
rs764538703
|
0.00004
|
|
NM_015046.7(SETX):c.2490A>C (p.Gly830=)
|
rs751429987
|
0.00004
|
|
NM_015046.7(SETX):c.2502A>G (p.Gly834=)
|
rs762818441
|
0.00004
|
|
NM_015046.7(SETX):c.2543T>G (p.Val848Gly)
|
rs567711722
|
0.00004
|
|
NM_015046.7(SETX):c.2935G>A (p.Asp979Asn)
|
rs138287942
|
0.00004
|
|
NM_015046.7(SETX):c.3029G>A (p.Arg1010His)
|
rs370781594
|
0.00004
|
|
NM_015046.7(SETX):c.3115A>G (p.Ile1039Val)
|
rs372529790
|
0.00004
|
|
NM_015046.7(SETX):c.3341T>C (p.Ile1114Thr)
|
rs760535401
|
0.00004
|
|
NM_015046.7(SETX):c.3587A>G (p.Asn1196Ser)
|
rs376381668
|
0.00004
|
|
NM_015046.7(SETX):c.377A>G (p.His126Arg)
|
rs368932301
|
0.00004
|
|
NM_015046.7(SETX):c.3793A>G (p.Thr1265Ala)
|
rs956812554
|
0.00004
|
|
NM_015046.7(SETX):c.3810G>A (p.Pro1270=)
|
rs753022992
|
0.00004
|
|
NM_015046.7(SETX):c.399T>C (p.Cys133=)
|
rs779515782
|
0.00004
|
|
NM_015046.7(SETX):c.4323G>A (p.Gln1441=)
|
rs180992608
|
0.00004
|
|
NM_015046.7(SETX):c.4436C>T (p.Ala1479Val)
|
rs761119964
|
0.00004
|
|
NM_015046.7(SETX):c.4828C>T (p.Leu1610Phe)
|
rs749891883
|
0.00004
|
|
NM_015046.7(SETX):c.4979A>G (p.His1660Arg)
|
rs371894414
|
0.00004
|
|
NM_015046.7(SETX):c.540A>G (p.Lys180=)
|
rs757470639
|
0.00004
|
|
NM_015046.7(SETX):c.546C>A (p.Asp182Glu)
|
rs199748733
|
0.00004
|
|
NM_015046.7(SETX):c.5814A>G (p.Gln1938=)
|
rs143868969
|
0.00004
|
|
NM_015046.7(SETX):c.6122T>C (p.Ile2041Thr)
|
rs140676924
|
0.00004
|
|
NM_015046.7(SETX):c.6435C>T (p.Ile2145=)
|
rs374110190
|
0.00004
|
|
NM_015046.7(SETX):c.6546+10C>T
|
rs571194790
|
0.00004
|
|
NM_015046.7(SETX):c.7073A>G (p.Asp2358Gly)
|
rs770469636
|
0.00004
|
|
NM_015046.7(SETX):c.719-4A>G
|
rs775443601
|
0.00004
|
|
NM_015046.7(SETX):c.7200-15T>C
|
rs754019832
|
0.00004
|
|
NM_015046.7(SETX):c.7715C>T (p.Thr2572Met)
|
rs773364996
|
0.00004
|
|
NM_015046.7(SETX):c.7741C>T (p.His2581Tyr)
|
rs530686162
|
0.00004
|
|
NM_015046.7(SETX):c.77C>T (p.Pro26Leu)
|
rs377617692
|
0.00004
|
|
NM_015046.7(SETX):c.7809C>T (p.Pro2603=)
|
rs766063614
|
0.00004
|
|
NM_015046.7(SETX):c.839-6T>C
|
rs760584527
|
0.00004
|
|
NM_015046.7(SETX):c.986G>A (p.Arg329Gln)
|
rs376077293
|
0.00004
|
|
NM_016169.4(SUFU):c.1147C>G (p.Leu383Val)
|
rs991500079
|
0.00004
|
|
NM_016169.4(SUFU):c.1297-16C>T
|
rs763761235
|
0.00004
|
|
NM_016169.4(SUFU):c.183-17T>C
|
rs767300975
|
0.00004
|
|
NM_016169.4(SUFU):c.537G>A (p.Leu179=)
|
rs139580429
|
0.00004
|
|
NM_016169.4(SUFU):c.777C>T (p.Ile259=)
|
rs749533220
|
0.00004
|
|
NM_016169.4(SUFU):c.855C>T (p.Asp285=)
|
rs200206997
|
0.00004
|
|
NM_016169.4(SUFU):c.866G>A (p.Arg289Gln)
|
rs149016373
|
0.00004
|
|
NM_016169.4(SUFU):c.991C>T (p.Arg331Trp)
|
rs768170991
|
0.00004
|
|
NM_016373.4(WWOX):c.1146C>T (p.Cys382=)
|
rs780939546
|
0.00004
|
|
NM_016373.4(WWOX):c.114C>T (p.Thr38=)
|
rs372635270
|
0.00004
|
|
NM_016373.4(WWOX):c.1184G>A (p.Arg395Gln)
|
rs373148311
|
0.00004
|
|
NM_016373.4(WWOX):c.164T>C (p.Val55Ala)
|
rs775944673
|
0.00004
|
|
NM_016373.4(WWOX):c.173-6T>G
|
rs200812468
|
0.00004
|
|
NM_016373.4(WWOX):c.214C>G (p.Gln72Glu)
|
rs201008667
|
0.00004
|
|
NM_016373.4(WWOX):c.231-11C>G
|
rs372011945
|
0.00004
|
|
NM_016373.4(WWOX):c.321C>T (p.Tyr107=)
|
rs373306276
|
0.00004
|
|
NM_016373.4(WWOX):c.322G>A (p.Asp108Asn)
|
rs747575799
|
0.00004
|
|
NM_016373.4(WWOX):c.410G>A (p.Gly137Glu)
|
rs761879076
|
0.00004
|
|
NM_016373.4(WWOX):c.517-10C>G
|
rs199820033
|
0.00004
|
|
NM_016373.4(WWOX):c.542C>T (p.Thr181Ile)
|
rs756339242
|
0.00004
|
|
NM_016373.4(WWOX):c.605+20G>A
|
rs372217196
|
0.00004
|
|
NM_016373.4(WWOX):c.605T>G (p.Val202Gly)
|
rs112636835
|
0.00004
|
|
NM_016373.4(WWOX):c.673C>G (p.Leu225Val)
|
rs376040091
|
0.00004
|
|
NM_016373.4(WWOX):c.721C>G (p.Gln241Glu)
|
rs540386692
|
0.00004
|
|
NM_016373.4(WWOX):c.739T>C (p.Leu247=)
|
rs1195368309
|
0.00004
|
|
NM_016373.4(WWOX):c.760C>T (p.Arg254Cys)
|
rs369715848
|
0.00004
|
|
NM_016373.4(WWOX):c.798A>C (p.Thr266=)
|
rs377727422
|
0.00004
|
|
NM_016373.4(WWOX):c.855C>T (p.Asn285=)
|
rs767903006
|
0.00004
|
|
NM_016373.4(WWOX):c.926G>A (p.Arg309His)
|
rs370792938
|
0.00004
|
|
NM_016464.5(TMEM138):c.193G>A (p.Val65Ile)
|
rs763118625
|
0.00004
|
|
NM_016464.5(TMEM138):c.377-3C>T
|
rs774110963
|
0.00004
|
|
NM_016464.5(TMEM138):c.387G>A (p.Leu129=)
|
rs553815473
|
0.00004
|
|
NM_018718.3(CEP41):c.1078C>T (p.Arg360Cys)
|
rs371812716
|
0.00004
|
|
NM_018718.3(CEP41):c.13A>G (p.Arg5Gly)
|
rs782048004
|
0.00004
|
|
NM_018718.3(CEP41):c.213C>T (p.Ile71=)
|
rs370498782
|
0.00004
|
|
NM_018718.3(CEP41):c.277+16G>C
|
rs782272723
|
0.00004
|
|
NM_018718.3(CEP41):c.357G>A (p.Ser119=)
|
rs1179996142
|
0.00004
|
|
NM_018718.3(CEP41):c.716T>C (p.Met239Thr)
|
rs200882016
|
0.00004
|
|
NM_018718.3(CEP41):c.785C>T (p.Pro262Leu)
|
rs200709703
|
0.00004
|
|
NM_018718.3(CEP41):c.911C>G (p.Pro304Arg)
|
rs782392521
|
0.00004
|
|
NM_022464.5(SIL1):c.1088A>C (p.Gln363Pro)
|
rs563414935
|
0.00004
|
|
NM_182961.4(SYNE1):c.10257T>C (p.His3419=)
|
rs147631683
|
0.00004
|
|
NM_182961.4(SYNE1):c.10597C>T (p.Arg3533Cys)
|
rs776816480
|
0.00004
|
|
NM_182961.4(SYNE1):c.10658T>C (p.Leu3553Pro)
|
rs774759366
|
0.00004
|
|
NM_182961.4(SYNE1):c.11246C>T (p.Thr3749Met)
|
rs778034684
|
0.00004
|
|
NM_182961.4(SYNE1):c.1125C>T (p.Asp375=)
|
rs569973824
|
0.00004
|
|
NM_182961.4(SYNE1):c.11302C>T (p.Arg3768Trp)
|
rs371013745
|
0.00004
|
|
NM_182961.4(SYNE1):c.11309A>G (p.Lys3770Arg)
|
rs780693119
|
0.00004
|
|
NM_182961.4(SYNE1):c.11477A>G (p.Lys3826Arg)
|
rs76410834
|
0.00004
|
|
NM_182961.4(SYNE1):c.11506C>G (p.Gln3836Glu)
|
rs780637080
|
0.00004
|
|
NM_182961.4(SYNE1):c.11589A>C (p.Gln3863His)
|
rs190032752
|
0.00004
|
|
NM_182961.4(SYNE1):c.12007A>G (p.Lys4003Glu)
|
rs772000149
|
0.00004
|
|
NM_182961.4(SYNE1):c.12099C>T (p.His4033=)
|
rs375862387
|
0.00004
|
|
NM_182961.4(SYNE1):c.12182C>T (p.Pro4061Leu)
|
rs148036239
|
0.00004
|
|
NM_182961.4(SYNE1):c.12436C>T (p.Leu4146=)
|
rs777433973
|
0.00004
|
|
NM_182961.4(SYNE1):c.12476G>A (p.Arg4159Lys)
|
rs762119902
|
0.00004
|
|
NM_182961.4(SYNE1):c.1262C>T (p.Ala421Val)
|
rs150409035
|
0.00004
|
|
NM_182961.4(SYNE1):c.13331G>A (p.Arg4444Gln)
|
rs139075013
|
0.00004
|
|
NM_182961.4(SYNE1):c.13431G>A (p.Met4477Ile)
|
rs1007433720
|
0.00004
|
|
NM_182961.4(SYNE1):c.13553G>A (p.Arg4518His)
|
rs148248006
|
0.00004
|
|
NM_182961.4(SYNE1):c.13789G>A (p.Glu4597Lys)
|
rs371375804
|
0.00004
|
|
NM_182961.4(SYNE1):c.1428A>G (p.Pro476=)
|
rs778574491
|
0.00004
|
|
NM_182961.4(SYNE1):c.14291G>A (p.Arg4764Gln)
|
rs745701031
|
0.00004
|
|
NM_182961.4(SYNE1):c.1453A>G (p.Met485Val)
|
rs767978898
|
0.00004
|
|
NM_182961.4(SYNE1):c.1458C>T (p.Ala486=)
|
rs373091521
|
0.00004
|
|
NM_182961.4(SYNE1):c.14671A>G (p.Thr4891Ala)
|
rs534678815
|
0.00004
|
|
NM_182961.4(SYNE1):c.14890G>A (p.Glu4964Lys)
|
rs780258342
|
0.00004
|
|
NM_182961.4(SYNE1):c.14976T>C (p.Tyr4992=)
|
rs935200376
|
0.00004
|
|
NM_182961.4(SYNE1):c.1497C>T (p.His499=)
|
rs758555741
|
0.00004
|
|
NM_182961.4(SYNE1):c.14984G>A (p.Cys4995Tyr)
|
rs765800192
|
0.00004
|
|
NM_182961.4(SYNE1):c.15451G>A (p.Val5151Met)
|
rs199996504
|
0.00004
|
|
NM_182961.4(SYNE1):c.15510G>A (p.Glu5170=)
|
rs763638514
|
0.00004
|
|
NM_182961.4(SYNE1):c.15580C>T (p.Arg5194Cys)
|
rs757086609
|
0.00004
|
|
NM_182961.4(SYNE1):c.16025C>T (p.Thr5342Met)
|
rs202105931
|
0.00004
|
|
NM_182961.4(SYNE1):c.16229G>A (p.Arg5410Gln)
|
rs776100963
|
0.00004
|
|
NM_182961.4(SYNE1):c.16278G>A (p.Thr5426=)
|
rs779112403
|
0.00004
|
|
NM_182961.4(SYNE1):c.1632+6T>C
|
rs758756977
|
0.00004
|
|
NM_182961.4(SYNE1):c.16350G>A (p.Ala5450=)
|
rs768673070
|
0.00004
|
|
NM_182961.4(SYNE1):c.16390-11T>C
|
rs765234446
|
0.00004
|
|
NM_182961.4(SYNE1):c.16868G>A (p.Arg5623His)
|
rs753544584
|
0.00004
|
|
NM_182961.4(SYNE1):c.17140C>T (p.Arg5714Trp)
|
rs202171698
|
0.00004
|
|
NM_182961.4(SYNE1):c.17141G>A (p.Arg5714Gln)
|
rs367925174
|
0.00004
|
|
NM_182961.4(SYNE1):c.17322G>T (p.Leu5774=)
|
rs752995421
|
0.00004
|
|
NM_182961.4(SYNE1):c.1737A>G (p.Glu579=)
|
rs199673388
|
0.00004
|
|
NM_182961.4(SYNE1):c.17419A>G (p.Met5807Val)
|
rs763218931
|
0.00004
|
|
NM_182961.4(SYNE1):c.17650C>T (p.Pro5884Ser)
|
rs767508394
|
0.00004
|
|
NM_182961.4(SYNE1):c.17780C>T (p.Pro5927Leu)
|
rs145085256
|
0.00004
|
|
NM_182961.4(SYNE1):c.17825G>A (p.Arg5942His)
|
rs746220387
|
0.00004
|
|
NM_182961.4(SYNE1):c.18193C>T (p.Arg6065Trp)
|
rs200209279
|
0.00004
|
|
NM_182961.4(SYNE1):c.1861A>G (p.Thr621Ala)
|
rs146618884
|
0.00004
|
|
NM_182961.4(SYNE1):c.18630C>T (p.Pro6210=)
|
rs1022996215
|
0.00004
|
|
NM_182961.4(SYNE1):c.18815+16C>T
|
rs369215013
|
0.00004
|
|
NM_182961.4(SYNE1):c.18871G>A (p.Ala6291Thr)
|
rs143594709
|
0.00004
|
|
NM_182961.4(SYNE1):c.19188C>T (p.Asp6396=)
|
rs369626489
|
0.00004
|
|
NM_182961.4(SYNE1):c.19228G>A (p.Glu6410Lys)
|
rs143554730
|
0.00004
|
|
NM_182961.4(SYNE1):c.19438A>C (p.Lys6480Gln)
|
rs774558249
|
0.00004
|
|
NM_182961.4(SYNE1):c.19555G>A (p.Val6519Ile)
|
rs563568189
|
0.00004
|
|
NM_182961.4(SYNE1):c.20449C>T (p.Arg6817Trp)
|
rs140903556
|
0.00004
|
|
NM_182961.4(SYNE1):c.20556A>G (p.Gln6852=)
|
rs147173664
|
0.00004
|
|
NM_182961.4(SYNE1):c.20692G>A (p.Val6898Ile)
|
rs769943110
|
0.00004
|
|
NM_182961.4(SYNE1):c.21095A>G (p.Gln7032Arg)
|
rs752508132
|
0.00004
|
|
NM_182961.4(SYNE1):c.21249G>T (p.Gln7083His)
|
rs777155965
|
0.00004
|
|
NM_182961.4(SYNE1):c.21285C>T (p.Asp7095=)
|
rs768886911
|
0.00004
|
|
NM_182961.4(SYNE1):c.21560T>C (p.Leu7187Ser)
|
rs778441411
|
0.00004
|
|
NM_182961.4(SYNE1):c.21613G>A (p.Val7205Met)
|
rs377449974
|
0.00004
|
|
NM_182961.4(SYNE1):c.22044+11C>G
|
rs751070924
|
0.00004
|
|
NM_182961.4(SYNE1):c.22164A>G (p.Thr7388=)
|
rs774480374
|
0.00004
|
|
NM_182961.4(SYNE1):c.22520G>A (p.Arg7507His)
|
rs776733924
|
0.00004
|
|
NM_182961.4(SYNE1):c.22547T>C (p.Ile7516Thr)
|
rs190781696
|
0.00004
|
|
NM_182961.4(SYNE1):c.23051A>T (p.Asp7684Val)
|
rs139077054
|
0.00004
|
|
NM_182961.4(SYNE1):c.23335T>C (p.Leu7779=)
|
rs200800604
|
0.00004
|
|
NM_182961.4(SYNE1):c.23589C>T (p.Asn7863=)
|
rs753421656
|
0.00004
|
|
NM_182961.4(SYNE1):c.23742C>T (p.Tyr7914=)
|
rs781192759
|
0.00004
|
|
NM_182961.4(SYNE1):c.23962A>G (p.Met7988Val)
|
rs746456193
|
0.00004
|
|
NM_182961.4(SYNE1):c.24130-7G>T
|
rs368697044
|
0.00004
|
|
NM_182961.4(SYNE1):c.24338T>G (p.Phe8113Cys)
|
rs769930534
|
0.00004
|
|
NM_182961.4(SYNE1):c.2440T>C (p.Leu814=)
|
rs368201364
|
0.00004
|
|
NM_182961.4(SYNE1):c.24652G>A (p.Asp8218Asn)
|
rs267600861
|
0.00004
|
|
NM_182961.4(SYNE1):c.24717C>G (p.His8239Gln)
|
rs201548223
|
0.00004
|
|
NM_182961.4(SYNE1):c.24780G>A (p.Ser8260=)
|
rs766320378
|
0.00004
|
|
NM_182961.4(SYNE1):c.24797G>A (p.Arg8266Gln)
|
rs200137670
|
0.00004
|
|
NM_182961.4(SYNE1):c.24878G>A (p.Arg8293Gln)
|
rs369073682
|
0.00004
|
|
NM_182961.4(SYNE1):c.24977-1719A>G
|
rs202030113
|
0.00004
|
|
NM_182961.4(SYNE1):c.25069C>T (p.Arg8357Cys)
|
rs755199419
|
0.00004
|
|
NM_182961.4(SYNE1):c.25194G>A (p.Glu8398=)
|
rs369691475
|
0.00004
|
|
NM_182961.4(SYNE1):c.25213G>T (p.Val8405Phe)
|
rs757463285
|
0.00004
|
|
NM_182961.4(SYNE1):c.25241C>T (p.Thr8414Met)
|
rs759512753
|
0.00004
|
|
NM_182961.4(SYNE1):c.25916G>A (p.Gly8639Glu)
|
rs191807870
|
0.00004
|
|
NM_182961.4(SYNE1):c.26208C>T (p.Ser8736=)
|
rs770690488
|
0.00004
|
|
NM_182961.4(SYNE1):c.26279G>A (p.Gly8760Glu)
|
rs747635401
|
0.00004
|
|
NM_182961.4(SYNE1):c.26391C>T (p.Leu8797=)
|
rs201891399
|
0.00004
|
|
NM_182961.4(SYNE1):c.2893-13C>T
|
rs148337270
|
0.00004
|
|
NM_182961.4(SYNE1):c.3099C>T (p.Ala1033=)
|
rs201752079
|
0.00004
|
|
NM_182961.4(SYNE1):c.3186+4C>T
|
rs747984490
|
0.00004
|
|
NM_182961.4(SYNE1):c.3435A>T (p.Thr1145=)
|
rs759359527
|
0.00004
|
|
NM_182961.4(SYNE1):c.3481G>A (p.Gly1161Arg)
|
rs149415204
|
0.00004
|
|
NM_182961.4(SYNE1):c.3497C>T (p.Ala1166Val)
|
rs765122984
|
0.00004
|
|
NM_182961.4(SYNE1):c.3525C>T (p.Thr1175=)
|
rs761360867
|
0.00004
|
|
NM_182961.4(SYNE1):c.3647C>T (p.Ala1216Val)
|
rs200629713
|
0.00004
|
|
NM_182961.4(SYNE1):c.3933C>A (p.His1311Gln)
|
rs774093065
|
0.00004
|
|
NM_182961.4(SYNE1):c.3936G>C (p.Glu1312Asp)
|
rs200763530
|
0.00004
|
|
NM_182961.4(SYNE1):c.3952G>C (p.Glu1318Gln)
|
rs201144728
|
0.00004
|
|
NM_182961.4(SYNE1):c.4075A>G (p.Thr1359Ala)
|
rs377718960
|
0.00004
|
|
NM_182961.4(SYNE1):c.4274A>T (p.Glu1425Val)
|
rs767783076
|
0.00004
|
|
NM_182961.4(SYNE1):c.4552G>C (p.Glu1518Gln)
|
rs760544014
|
0.00004
|
|
NM_182961.4(SYNE1):c.4610G>A (p.Arg1537Gln)
|
rs369775705
|
0.00004
|
|
NM_182961.4(SYNE1):c.462C>T (p.Ser154=)
|
rs761939786
|
0.00004
|
|
NM_182961.4(SYNE1):c.4992A>G (p.Leu1664=)
|
rs187410988
|
0.00004
|
|
NM_182961.4(SYNE1):c.509G>A (p.Arg170Gln)
|
rs779239788
|
0.00004
|
|
NM_182961.4(SYNE1):c.5230G>A (p.Glu1744Lys)
|
rs540091060
|
0.00004
|
|
NM_182961.4(SYNE1):c.5413C>T (p.Arg1805Trp)
|
rs763781396
|
0.00004
|
|
NM_182961.4(SYNE1):c.5417A>G (p.His1806Arg)
|
rs779891217
|
0.00004
|
|
NM_182961.4(SYNE1):c.590G>A (p.Gly197Glu)
|
rs150249753
|
0.00004
|
|
NM_182961.4(SYNE1):c.6289G>C (p.Ala2097Pro)
|
rs375773340
|
0.00004
|
|
NM_182961.4(SYNE1):c.6537G>A (p.Leu2179=)
|
rs138725794
|
0.00004
|
|
NM_182961.4(SYNE1):c.7064A>G (p.Asn2355Ser)
|
rs377180714
|
0.00004
|
|
NM_182961.4(SYNE1):c.7485G>A (p.Glu2495=)
|
rs901474571
|
0.00004
|
|
NM_182961.4(SYNE1):c.7755T>C (p.Ser2585=)
|
rs759690937
|
0.00004
|
|
NM_182961.4(SYNE1):c.780C>T (p.Asp260=)
|
rs376480815
|
0.00004
|
|
NM_182961.4(SYNE1):c.8169C>T (p.His2723=)
|
rs371449580
|
0.00004
|
|
NM_182961.4(SYNE1):c.8339T>C (p.Leu2780Pro)
|
rs757960938
|
0.00004
|
|
NM_182961.4(SYNE1):c.862G>A (p.Ala288Thr)
|
rs770907182
|
0.00004
|
|
NM_182961.4(SYNE1):c.8653-19T>C
|
rs376539357
|
0.00004
|
|
NM_182961.4(SYNE1):c.888+4G>C
|
rs749258298
|
0.00004
|
|
NM_182961.4(SYNE1):c.9651+19C>T
|
rs543352190
|
0.00004
|
|
NM_182961.4(SYNE1):c.9834C>T (p.Ile3278=)
|
rs142241062
|
0.00004
|
|
NM_000784.4(CYP27A1):c.1055C>T (p.Ser352Leu)
|
rs780927834
|
0.00003
|
|
NM_000784.4(CYP27A1):c.1113C>T (p.Ala371=)
|
rs746269951
|
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.1286A>G (p.Tyr429Cys)
|
rs774127681
|
0.00003
|
|
NM_000784.4(CYP27A1):c.1348C>T (p.Leu450=)
|
rs1039198612
|
0.00003
|
|
NM_000784.4(CYP27A1):c.1421G>A (p.Arg474Gln)
|
rs121908097
|
0.00003
|
|
NM_000784.4(CYP27A1):c.1556A>G (p.Asn519Ser)
|
rs371510438
|
0.00003
|
|
NM_000784.4(CYP27A1):c.20C>T (p.Ala7Val)
|
rs1364383591
|
0.00003
|
|
NM_000784.4(CYP27A1):c.241C>A (p.Leu81Met)
|
rs370498798
|
0.00003
|
|
NM_000784.4(CYP27A1):c.373C>G (p.Pro125Ala)
|
rs1046723537
|
0.00003
|
|
NM_000784.4(CYP27A1):c.376G>C (p.Val126Leu)
|
rs773892447
|
0.00003
|
|
NM_000784.4(CYP27A1):c.380G>A (p.Arg127Gln)
|
rs376230356
|
0.00003
|
|
NM_000784.4(CYP27A1):c.447-10G>A
|
rs756808196
|
0.00003
|
|
NM_000784.4(CYP27A1):c.473G>A (p.Arg158His)
|
rs761927223
|
0.00003
|
|
NM_000784.4(CYP27A1):c.594G>A (p.Ser198=)
|
rs1487944910
|
0.00003
|
|
NM_000784.4(CYP27A1):c.624C>T (p.Leu208=)
|
rs200060245
|
0.00003
|
|
NM_000784.4(CYP27A1):c.647-4T>C
|
rs1943729690
|
0.00003
|
|
NM_000784.4(CYP27A1):c.674G>A (p.Arg225His)
|
rs753275244
|
0.00003
|
|
NM_000784.4(CYP27A1):c.808C>G (p.Arg270Gly)
|
rs72551318
|
0.00003
|
|
NM_000784.4(CYP27A1):c.809G>A (p.Arg270Gln)
|
rs556715266
|
0.00003
|
|
NM_000784.4(CYP27A1):c.844+20G>A
|
rs200698553
|
0.00003
|
|
NM_000784.4(CYP27A1):c.870C>T (p.Leu290=)
|
rs202136743
|
0.00003
|
|
NM_000784.4(CYP27A1):c.871G>A (p.Glu291Lys)
|
rs190012697
|
0.00003
|
|
NM_000784.4(CYP27A1):c.886C>T (p.Gln296Ter)
|
rs575064188
|
0.00003
|
|
NM_000784.4(CYP27A1):c.967C>T (p.Arg323Trp)
|
rs371603253
|
0.00003
|
|
NM_000784.4(CYP27A1):c.972G>A (p.Glu324=)
|
rs1341913523
|
0.00003
|
|
NM_001044385.3(TMEM237):c.104A>C (p.Lys35Thr)
|
rs776825848
|
0.00003
|
|
NM_001044385.3(TMEM237):c.15G>C (p.Ser5=)
|
rs879874108
|
0.00003
|
|
NM_001044385.3(TMEM237):c.1A>G (p.Met1Val)
|
rs957203033
|
0.00003
|
|
NM_001044385.3(TMEM237):c.22C>T (p.Arg8Trp)
|
rs972949531
|
0.00003
|
|
NM_001044385.3(TMEM237):c.396-13G>A
|
rs570600190
|
0.00003
|
|
NM_001044385.3(TMEM237):c.482A>G (p.Glu161Gly)
|
rs771350638
|
0.00003
|
|
NM_001044385.3(TMEM237):c.505C>A (p.Pro169Thr)
|
rs772074875
|
0.00003
|
|
NM_001044385.3(TMEM237):c.75-8C>T
|
rs1274569461
|
0.00003
|
|
NM_001044385.3(TMEM237):c.806C>T (p.Ala269Val)
|
rs768672107
|
0.00003
|
|
NM_001044385.3(TMEM237):c.869+4A>G
|
rs771107990
|
0.00003
|
|
NM_001077416.2(TMEM231):c.74T>A (p.Met25Lys)
|
rs397514609
|
0.00003
|
|
NM_001077418.2(TMEM231):c.-46G>A
|
rs752769188
|
0.00003
|
|
NM_001077418.3(TMEM231):c.223C>T (p.Pro75Ser)
|
rs372775075
|
0.00003
|
|
NM_001077418.3(TMEM231):c.241C>T (p.Leu81Phe)
|
rs376555896
|
0.00003
|
|
NM_001077418.3(TMEM231):c.284del (p.Asp95fs)
|
rs750897443
|
0.00003
|
|
NM_001077418.3(TMEM231):c.399C>T (p.Leu133=)
|
rs534627748
|
0.00003
|
|
NM_001077418.3(TMEM231):c.41G>A (p.Ser14Asn)
|
rs769321473
|
0.00003
|
|
NM_001077418.3(TMEM231):c.431G>A (p.Arg144Gln)
|
rs1033608835
|
0.00003
|
|
NM_001077418.3(TMEM231):c.438+1G>A
|
rs1415483600
|
0.00003
|
|
NM_001077418.3(TMEM231):c.771-4A>C
|
rs199768195
|
0.00003
|
|
NM_001077418.3(TMEM231):c.780A>G (p.Pro260=)
|
rs1412070252
|
0.00003
|
|
NM_001329943.3(KIAA0586):c.1160A>G (p.Asn387Ser)
|
rs1168640996
|
0.00003
|
|
NM_001329943.3(KIAA0586):c.1444T>C (p.Ser482Pro)
|
rs375472516
|
0.00003
|
|
NM_001329943.3(KIAA0586):c.1656+4T>C
|
rs368165741
|
0.00003
|
|
NM_001329943.3(KIAA0586):c.1779A>G (p.Lys593=)
|
rs1356132325
|
0.00003
|
|
NM_001329943.3(KIAA0586):c.1797A>T (p.Lys599Asn)
|
rs556030955
|
0.00003
|
|
NM_001329943.3(KIAA0586):c.2198T>C (p.Met733Thr)
|
rs752363556
|
0.00003
|
|
NM_001329943.3(KIAA0586):c.2354G>A (p.Arg785Gln)
|
rs372212501
|
0.00003
|
|
NM_001329943.3(KIAA0586):c.2536del (p.Val846fs)
|
rs1307758243
|
0.00003
|
|
NM_001329943.3(KIAA0586):c.2623G>A (p.Asp875Asn)
|
rs770913768
|
0.00003
|
|
NM_001329943.3(KIAA0586):c.2944+13G>T
|
rs377092455
|
0.00003
|
|
NM_001329943.3(KIAA0586):c.2965G>A (p.Ala989Thr)
|
rs767605168
|
0.00003
|
|
NM_001329943.3(KIAA0586):c.3162A>T (p.Pro1054=)
|
rs749756433
|
0.00003
|
|
NM_001329943.3(KIAA0586):c.3526A>G (p.Ile1176Val)
|
rs777965178
|
0.00003
|
|
NM_001329943.3(KIAA0586):c.3781+20T>G
|
rs770866188
|
0.00003
|
|
NM_001329943.3(KIAA0586):c.3908A>G (p.Lys1303Arg)
|
rs767855931
|
0.00003
|
|
NM_001329943.3(KIAA0586):c.411-1486G>A
|
rs982449380
|
0.00003
|
|
NM_001329943.3(KIAA0586):c.4261A>G (p.Thr1421Ala)
|
rs962979142
|
0.00003
|
|
NM_001329943.3(KIAA0586):c.4473G>A (p.Pro1491=)
|
rs768806838
|
0.00003
|
|
NM_001329943.3(KIAA0586):c.4573G>A (p.Glu1525Lys)
|
rs375085808
|
0.00003
|
|
NM_001329943.3(KIAA0586):c.518T>C (p.Ile173Thr)
|
rs773960033
|
0.00003
|
|
NM_001329943.3(KIAA0586):c.831C>T (p.Leu277=)
|
rs780520735
|
0.00003
|
|
NM_001329943.3(KIAA0586):c.986C>T (p.Thr329Met)
|
rs747277541
|
0.00003
|
|
NM_001378969.1(KCND3):c.1314G>A (p.Ser438=)
|
rs1247179970
|
0.00003
|
|
NM_001378969.1(KCND3):c.1370C>T (p.Thr457Met)
|
rs199637120
|
0.00003
|
|
NM_001378969.1(KCND3):c.1524C>T (p.His508=)
|
rs765916708
|
0.00003
|
|
NM_001378969.1(KCND3):c.1960G>A (p.Ala654Thr)
|
rs774711788
|
0.00003
|
|
NM_001378969.1(KCND3):c.339C>T (p.Ala113=)
|
rs371366472
|
0.00003
|
|
NM_001378969.1(KCND3):c.430G>A (p.Ala144Thr)
|
rs143933558
|
0.00003
|
|
NM_001378969.1(KCND3):c.693G>C (p.Thr231=)
|
rs749849320
|
0.00003
|
|
NM_001382391.1(CSPP1):c.1217C>T (p.Ala406Val)
|
rs775268714
|
0.00003
|
|
NM_001382391.1(CSPP1):c.1218G>C (p.Ala406=)
|
rs752326108
|
0.00003
|
|
NM_001382391.1(CSPP1):c.1453C>T (p.Arg485Cys)
|
rs759265787
|
0.00003
|
|
NM_001382391.1(CSPP1):c.1698-15G>A
|
rs777747860
|
0.00003
|
|
NM_001382391.1(CSPP1):c.1703C>T (p.Thr568Met)
|
rs375847469
|
0.00003
|
|
NM_001382391.1(CSPP1):c.1975+4C>T
|
rs779380282
|
0.00003
|
|
NM_001382391.1(CSPP1):c.2133T>C (p.His711=)
|
rs755593188
|
0.00003
|
|
NM_001382391.1(CSPP1):c.2276G>A (p.Arg759Gln)
|
rs763911288
|
0.00003
|
|
NM_001382391.1(CSPP1):c.2336G>A (p.Arg779Gln)
|
rs780070875
|
0.00003
|
|
NM_001382391.1(CSPP1):c.2711-15A>G
|
rs756159198
|
0.00003
|
|
NM_001382391.1(CSPP1):c.289C>T (p.Arg97Cys)
|
rs374169543
|
0.00003
|
|
NM_001382391.1(CSPP1):c.2920G>A (p.Ala974Thr)
|
rs767140972
|
0.00003
|
|
NM_001382391.1(CSPP1):c.3221-14C>T
|
rs202201525
|
0.00003
|
|
NM_001382391.1(CSPP1):c.3245C>T (p.Ala1082Val)
|
rs199738369
|
0.00003
|
|
NM_001382391.1(CSPP1):c.3296A>G (p.Glu1099Gly)
|
rs201629827
|
0.00003
|
|
NM_001382391.1(CSPP1):c.3364C>T (p.Leu1122Phe)
|
rs1421998303
|
0.00003
|
|
NM_001382391.1(CSPP1):c.3405T>G (p.Leu1135=)
|
rs376215036
|
0.00003
|
|
NM_001382391.1(CSPP1):c.3559C>T (p.Arg1187Cys)
|
rs781579090
|
0.00003
|
|
NM_001382391.1(CSPP1):c.52G>A (p.Glu18Lys)
|
rs770271054
|
0.00003
|
|
NM_001382391.1(CSPP1):c.88A>G (p.Met30Val)
|
rs199831541
|
0.00003
|
|
NM_001382391.1(CSPP1):c.935A>G (p.Asn312Ser)
|
rs769726340
|
0.00003
|
|
NM_015046.7(SETX):c.1099-7A>G
|
rs764675117
|
0.00003
|
|
NM_015046.7(SETX):c.1343A>G (p.Asp448Gly)
|
rs370363342
|
0.00003
|
|
NM_015046.7(SETX):c.1791C>G (p.Phe597Leu)
|
rs1338284039
|
0.00003
|
|
NM_015046.7(SETX):c.2390A>G (p.Lys797Arg)
|
rs1273786747
|
0.00003
|
|
NM_015046.7(SETX):c.2399G>T (p.Arg800Met)
|
rs761725498
|
0.00003
|
|
NM_015046.7(SETX):c.2404A>G (p.Ser802Gly)
|
rs1400027699
|
0.00003
|
|
NM_015046.7(SETX):c.2411T>C (p.Leu804Ser)
|
rs201096140
|
0.00003
|
|
NM_015046.7(SETX):c.267A>G (p.Ile89Met)
|
rs767232097
|
0.00003
|
|
NM_015046.7(SETX):c.2730A>C (p.Ser910=)
|
rs764898504
|
0.00003
|
|
NM_015046.7(SETX):c.2755G>C (p.Val919Leu)
|
rs561190371
|
0.00003
|
|
NM_015046.7(SETX):c.2924C>T (p.Thr975Met)
|
rs200722368
|
0.00003
|
|
NM_015046.7(SETX):c.2954C>T (p.Ser985Leu)
|
rs557074957
|
0.00003
|
|
NM_015046.7(SETX):c.3117A>G (p.Ile1039Met)
|
rs886063555
|
0.00003
|
|
NM_015046.7(SETX):c.3260C>T (p.Ser1087Phe)
|
rs139559547
|
0.00003
|
|
NM_015046.7(SETX):c.3298A>G (p.Asn1100Asp)
|
rs1230355404
|
0.00003
|
|
NM_015046.7(SETX):c.389-16A>G
|
rs200380642
|
0.00003
|
|
NM_015046.7(SETX):c.396A>G (p.Leu132=)
|
rs375232867
|
0.00003
|
|
NM_015046.7(SETX):c.4291C>G (p.Pro1431Ala)
|
rs371541705
|
0.00003
|
|
NM_015046.7(SETX):c.4338G>A (p.Val1446=)
|
rs777058489
|
0.00003
|
|
NM_015046.7(SETX):c.4390C>T (p.Pro1464Ser)
|
rs756080695
|
0.00003
|
|
NM_015046.7(SETX):c.4423A>G (p.Ile1475Val)
|
rs376678876
|
0.00003
|
|
NM_015046.7(SETX):c.4685G>A (p.Gly1562Asp)
|
rs771969117
|
0.00003
|
|
NM_015046.7(SETX):c.503G>A (p.Arg168Gln)
|
rs772017103
|
0.00003
|
|
NM_015046.7(SETX):c.5071C>A (p.Leu1691Ile)
|
rs756770572
|
0.00003
|
|
NM_015046.7(SETX):c.5130T>C (p.Tyr1710=)
|
rs768582274
|
0.00003
|
|
NM_015046.7(SETX):c.5361C>T (p.Tyr1787=)
|
rs777886975
|
0.00003
|
|
NM_015046.7(SETX):c.5591A>C (p.Gln1864Pro)
|
rs375747001
|
0.00003
|
|
NM_015046.7(SETX):c.5767A>G (p.Thr1923Ala)
|
rs372993859
|
0.00003
|
|
NM_015046.7(SETX):c.5781+9T>C
|
rs772671321
|
0.00003
|
|
NM_015046.7(SETX):c.6276T>C (p.Asp2092=)
|
rs759395503
|
0.00003
|
|
NM_015046.7(SETX):c.6396+16G>A
|
rs369168525
|
0.00003
|
|
NM_015046.7(SETX):c.6396+8G>C
|
rs752365500
|
0.00003
|
|
NM_015046.7(SETX):c.6453C>T (p.Ile2151=)
|
rs150599672
|
0.00003
|
|
NM_015046.7(SETX):c.6762C>T (p.Leu2254=)
|
rs1225106822
|
0.00003
|
|
NM_015046.7(SETX):c.6829T>C (p.Leu2277=)
|
rs189444354
|
0.00003
|
|
NM_015046.7(SETX):c.6843-5T>A
|
rs943904959
|
0.00003
|
|
NM_015046.7(SETX):c.6925C>T (p.Arg2309Trp)
|
rs1490101518
|
0.00003
|
|
NM_015046.7(SETX):c.710A>G (p.Tyr237Cys)
|
rs138538492
|
0.00003
|
|
NM_015046.7(SETX):c.7818C>T (p.Gly2606=)
|
rs764270386
|
0.00003
|
|
NM_015046.7(SETX):c.7851G>A (p.Thr2617=)
|
rs747616517
|
0.00003
|
|
NM_015046.7(SETX):c.806C>T (p.Ser269Leu)
|
rs757988188
|
0.00003
|
|
NM_016169.4(SUFU):c.1006G>A (p.Ala336Thr)
|
rs746448939
|
0.00003
|
|
NM_016169.4(SUFU):c.109A>G (p.Ile37Val)
|
rs745793517
|
0.00003
|
|
NM_016169.4(SUFU):c.1157+3G>A
|
rs764861812
|
0.00003
|
|
NM_016169.4(SUFU):c.126C>G (p.Arg42=)
|
rs779935477
|
0.00003
|
|
NM_016169.4(SUFU):c.1366-8C>T
|
rs1212706214
|
0.00003
|
|
NM_016169.4(SUFU):c.1428C>T (p.Asp476=)
|
rs777069460
|
0.00003
|
|
NM_016169.4(SUFU):c.1446G>A (p.Pro482=)
|
rs761389038
|
0.00003
|
|
NM_016169.4(SUFU):c.411C>T (p.Pro137=)
|
rs946508687
|
0.00003
|
|
NM_016169.4(SUFU):c.474G>A (p.Gly158=)
|
rs375178556
|
0.00003
|
|
NM_016169.4(SUFU):c.506A>G (p.Asn169Ser)
|
rs142672533
|
0.00003
|
|
NM_016169.4(SUFU):c.543G>A (p.Glu181=)
|
rs1211026296
|
0.00003
|
|
NM_016169.4(SUFU):c.666G>T (p.Leu222=)
|
rs142383792
|
0.00003
|
|
NM_016169.4(SUFU):c.873C>T (p.Ile291=)
|
rs763453891
|
0.00003
|
|
NM_016169.4(SUFU):c.896G>A (p.Arg299Gln)
|
rs374946819
|
0.00003
|
|
NM_016169.4(SUFU):c.96G>C (p.Pro32=)
|
rs1483435746
|
0.00003
|
|
NM_016373.4(WWOX):c.1029C>G (p.Thr343=)
|
rs752273047
|
0.00003
|
|
NM_016373.4(WWOX):c.1039C>A (p.Pro347Thr)
|
rs200699154
|
0.00003
|
|
NM_016373.4(WWOX):c.1066G>A (p.Ala356Thr)
|
rs767667847
|
0.00003
|
|
NM_016373.4(WWOX):c.1183C>T (p.Arg395Trp)
|
rs750042007
|
0.00003
|
|
NM_016373.4(WWOX):c.160C>T (p.Arg54Ter)
|
rs587777248
|
0.00003
|
|
NM_016373.4(WWOX):c.167C>T (p.Ala56Val)
|
rs530912550
|
0.00003
|
|
NM_016373.4(WWOX):c.251C>G (p.Thr84Ser)
|
rs757145186
|
0.00003
|
|
NM_016373.4(WWOX):c.563G>A (p.Arg188His)
|
rs771163284
|
0.00003
|
|
NM_016373.4(WWOX):c.606-9A>G
|
rs370129950
|
0.00003
|
|
NM_016373.4(WWOX):c.636A>C (p.Ala212=)
|
rs1201180702
|
0.00003
|
|
NM_016373.4(WWOX):c.746G>A (p.Arg249His)
|
rs756703833
|
0.00003
|
|
NM_016373.4(WWOX):c.912C>T (p.Ser304=)
|
rs745464578
|
0.00003
|
|
NM_016373.4(WWOX):c.953C>T (p.Ser318Leu)
|
rs770023814
|
0.00003
|
|
NM_016373.4(WWOX):c.977T>C (p.Met326Thr)
|
rs371996496
|
0.00003
|
|
NM_016373.4(WWOX):c.995A>C (p.His332Pro)
|
rs775584864
|
0.00003
|
|
NM_016464.5(TMEM138):c.187A>G (p.Thr63Ala)
|
rs755251825
|
0.00003
|
|
NM_016464.5(TMEM138):c.352A>T (p.Met118Leu)
|
rs774141923
|
0.00003
|
|
NM_016464.5(TMEM138):c.406C>T (p.Arg136Trp)
|
rs750788154
|
0.00003
|
|
NM_018718.3(CEP41):c.1040A>G (p.Asn347Ser)
|
rs782131552
|
0.00003
|
|
NM_018718.3(CEP41):c.130G>A (p.Glu44Lys)
|
rs138907207
|
0.00003
|
|
NM_018718.3(CEP41):c.225C>T (p.Ser75=)
|
rs1402831101
|
0.00003
|
|
NM_018718.3(CEP41):c.33+9C>G
|
rs376019428
|
0.00003
|
|
NM_018718.3(CEP41):c.418C>T (p.Gln140Ter)
|
rs781848162
|
0.00003
|
|
NM_018718.3(CEP41):c.4T>G (p.Ser2Ala)
|
rs782769549
|
0.00003
|
|
NM_018718.3(CEP41):c.510C>T (p.Asp170=)
|
rs782083906
|
0.00003
|
|
NM_018718.3(CEP41):c.536G>A (p.Arg179His)
|
rs140259402
|
0.00003
|
|
NM_018718.3(CEP41):c.643-6T>A
|
rs782610948
|
0.00003
|
|
NM_018718.3(CEP41):c.679G>A (p.Asp227Asn)
|
rs782704307
|
0.00003
|
|
NM_018718.3(CEP41):c.725G>A (p.Arg242His)
|
rs191246968
|
0.00003
|
|
NM_018718.3(CEP41):c.757+11T>C
|
rs1050676312
|
0.00003
|
|
NM_018718.3(CEP41):c.851G>A (p.Arg284Gln)
|
rs782105300
|
0.00003
|
|
NM_022464.5(SIL1):c.1282G>C (p.Glu428Gln)
|
rs761095369
|
0.00003
|
|
NM_022464.5(SIL1):c.1321G>A (p.Glu441Lys)
|
rs779649580
|
0.00003
|
|
NM_022464.5(SIL1):c.355C>G (p.Leu119Val)
|
rs758512287
|
0.00003
|
|
NM_022464.5(SIL1):c.930C>T (p.Leu310=)
|
rs147797471
|
0.00003
|
|
NM_022464.5(SIL1):c.987C>T (p.Ala329=)
|
rs758596676
|
0.00003
|
|
NM_182961.4(SYNE1):c.10188T>G (p.Asp3396Glu)
|
rs374839445
|
0.00003
|
|
NM_182961.4(SYNE1):c.10268G>A (p.Arg3423Gln)
|
rs139691734
|
0.00003
|
|
NM_182961.4(SYNE1):c.10284G>T (p.Met3428Ile)
|
rs755180412
|
0.00003
|
|
NM_182961.4(SYNE1):c.10584T>G (p.His3528Gln)
|
rs192623867
|
0.00003
|
|
NM_182961.4(SYNE1):c.10726C>T (p.Arg3576Trp)
|
rs777447487
|
0.00003
|
|
NM_182961.4(SYNE1):c.10766C>T (p.Thr3589Ile)
|
rs201487756
|
0.00003
|
|
NM_182961.4(SYNE1):c.11247G>A (p.Thr3749=)
|
rs138882800
|
0.00003
|
|
NM_182961.4(SYNE1):c.11362A>C (p.Lys3788Gln)
|
rs774322624
|
0.00003
|
|
NM_182961.4(SYNE1):c.11395G>A (p.Glu3799Lys)
|
rs879779013
|
0.00003
|
|
NM_182961.4(SYNE1):c.11526T>C (p.Pro3842=)
|
rs767967824
|
0.00003
|
|
NM_182961.4(SYNE1):c.11595G>A (p.Thr3865=)
|
rs760332489
|
0.00003
|
|
NM_182961.4(SYNE1):c.11902-15G>A
|
rs777796940
|
0.00003
|
|
NM_182961.4(SYNE1):c.12114C>T (p.His4038=)
|
rs200294294
|
0.00003
|
|
NM_182961.4(SYNE1):c.12122G>A (p.Arg4041Gln)
|
rs771461121
|
0.00003
|
|
NM_182961.4(SYNE1):c.12351G>A (p.Thr4117=)
|
rs1272129870
|
0.00003
|
|
NM_182961.4(SYNE1):c.12388C>G (p.Gln4130Glu)
|
rs779969031
|
0.00003
|
|
NM_182961.4(SYNE1):c.12471G>A (p.Lys4157=)
|
rs1014589530
|
0.00003
|
|
NM_182961.4(SYNE1):c.12573C>T (p.Thr4191=)
|
rs143851739
|
0.00003
|
|
NM_182961.4(SYNE1):c.12930C>T (p.Asp4310=)
|
rs760209358
|
0.00003
|
|
NM_182961.4(SYNE1):c.13436G>A (p.Arg4479His)
|
rs768085752
|
0.00003
|
|
NM_182961.4(SYNE1):c.13458A>G (p.Pro4486=)
|
rs998856849
|
0.00003
|
|
NM_182961.4(SYNE1):c.13727A>G (p.His4576Arg)
|
rs375344467
|
0.00003
|
|
NM_182961.4(SYNE1):c.13896G>A (p.Ser4632=)
|
rs1371756749
|
0.00003
|
|
NM_182961.4(SYNE1):c.13918T>C (p.Tyr4640His)
|
rs748256440
|
0.00003
|
|
NM_182961.4(SYNE1):c.13922T>A (p.Leu4641His)
|
rs199673397
|
0.00003
|
|
NM_182961.4(SYNE1):c.14033C>T (p.Ser4678Phe)
|
rs753473819
|
0.00003
|
|
NM_182961.4(SYNE1):c.14103C>T (p.Pro4701=)
|
rs772247507
|
0.00003
|
|
NM_182961.4(SYNE1):c.14847G>C (p.Lys4949Asn)
|
rs762502490
|
0.00003
|
|
NM_182961.4(SYNE1):c.14990G>A (p.Arg4997Lys)
|
rs755654863
|
0.00003
|
|
NM_182961.4(SYNE1):c.15063T>C (p.Asn5021=)
|
rs1376958261
|
0.00003
|
|
NM_182961.4(SYNE1):c.15414G>A (p.Ala5138=)
|
rs746436040
|
0.00003
|
|
NM_182961.4(SYNE1):c.15489G>A (p.Glu5163=)
|
rs750155092
|
0.00003
|
|
NM_182961.4(SYNE1):c.15608A>G (p.Glu5203Gly)
|
rs375432465
|
0.00003
|
|
NM_182961.4(SYNE1):c.15794A>G (p.Gln5265Arg)
|
rs797046023
|
0.00003
|
|
NM_182961.4(SYNE1):c.15986A>C (p.Glu5329Ala)
|
rs886044412
|
0.00003
|
|
NM_182961.4(SYNE1):c.16026G>A (p.Thr5342=)
|
rs776275832
|
0.00003
|
|
NM_182961.4(SYNE1):c.16132G>T (p.Ala5378Ser)
|
rs374220794
|
0.00003
|
|
NM_182961.4(SYNE1):c.16212G>A (p.Ala5404=)
|
rs150928921
|
0.00003
|
|
NM_182961.4(SYNE1):c.17029T>C (p.Ser5677Pro)
|
rs373679435
|
0.00003
|
|
NM_182961.4(SYNE1):c.17270C>T (p.Ala5757Val)
|
rs766395351
|
0.00003
|
|
NM_182961.4(SYNE1):c.17451G>A (p.Thr5817=)
|
rs769954729
|
0.00003
|
|
NM_182961.4(SYNE1):c.17577G>A (p.Pro5859=)
|
rs375662583
|
0.00003
|
|
NM_182961.4(SYNE1):c.17656G>A (p.Ala5886Thr)
|
rs774189380
|
0.00003
|
|
NM_182961.4(SYNE1):c.17682+1G>A
|
rs1064796579
|
0.00003
|
|
NM_182961.4(SYNE1):c.17758G>A (p.Ala5920Thr)
|
rs765300968
|
0.00003
|
|
NM_182961.4(SYNE1):c.18013-16A>G
|
rs1057523334
|
0.00003
|
|
NM_182961.4(SYNE1):c.18194G>A (p.Arg6065Gln)
|
rs777432650
|
0.00003
|
|
NM_182961.4(SYNE1):c.18363C>T (p.Ala6121=)
|
rs758953542
|
0.00003
|
|
NM_182961.4(SYNE1):c.18460G>T (p.Gly6154Cys)
|
rs528094877
|
0.00003
|
|
NM_182961.4(SYNE1):c.18609C>T (p.Asp6203=)
|
rs577804095
|
0.00003
|
|
NM_182961.4(SYNE1):c.18622C>G (p.Gln6208Glu)
|
rs558425673
|
0.00003
|
|
NM_182961.4(SYNE1):c.18631G>A (p.Gly6211Ser)
|
rs149624155
|
0.00003
|
|
NM_182961.4(SYNE1):c.18675G>A (p.Gln6225=)
|
rs373495185
|
0.00003
|
|
NM_182961.4(SYNE1):c.18679C>T (p.Arg6227Trp)
|
rs201873107
|
0.00003
|
|
NM_182961.4(SYNE1):c.18769G>A (p.Glu6257Lys)
|
rs551488589
|
0.00003
|
|
NM_182961.4(SYNE1):c.18930G>T (p.Gln6310His)
|
rs759556319
|
0.00003
|
|
NM_182961.4(SYNE1):c.18952G>A (p.Glu6318Lys)
|
rs758182381
|
0.00003
|
|
NM_182961.4(SYNE1):c.19022G>C (p.Gly6341Ala)
|
rs769384397
|
0.00003
|
|
NM_182961.4(SYNE1):c.19083C>T (p.Ala6361=)
|
rs374088995
|
0.00003
|
|
NM_182961.4(SYNE1):c.19138G>A (p.Glu6380Lys)
|
rs758159968
|
0.00003
|
|
NM_182961.4(SYNE1):c.19180T>C (p.Leu6394=)
|
rs372723292
|
0.00003
|
|
NM_182961.4(SYNE1):c.19242T>C (p.Thr6414=)
|
rs749942439
|
0.00003
|
|
NM_182961.4(SYNE1):c.1943G>A (p.Arg648Gln)
|
rs768605521
|
0.00003
|
|
NM_182961.4(SYNE1):c.19483G>A (p.Val6495Met)
|
rs553508431
|
0.00003
|
|
NM_182961.4(SYNE1):c.19807G>C (p.Glu6603Gln)
|
rs140360127
|
0.00003
|
|
NM_182961.4(SYNE1):c.19927T>C (p.Leu6643=)
|
rs143118084
|
0.00003
|
|
NM_182961.4(SYNE1):c.20164G>A (p.Glu6722Lys)
|
rs370571896
|
0.00003
|
|
NM_182961.4(SYNE1):c.20183G>A (p.Arg6728His)
|
rs139384691
|
0.00003
|
|
NM_182961.4(SYNE1):c.2030G>A (p.Arg677His)
|
rs767684007
|
0.00003
|
|
NM_182961.4(SYNE1):c.21189C>G (p.Asp7063Glu)
|
rs139062689
|
0.00003
|
|
NM_182961.4(SYNE1):c.21349A>T (p.Met7117Leu)
|
rs766914765
|
0.00003
|
|
NM_182961.4(SYNE1):c.21430A>G (p.Ser7144Gly)
|
rs759479600
|
0.00003
|
|
NM_182961.4(SYNE1):c.21474G>A (p.Leu7158=)
|
rs370065996
|
0.00003
|
|
NM_182961.4(SYNE1):c.21815A>G (p.Lys7272Arg)
|
rs764715827
|
0.00003
|
|
NM_182961.4(SYNE1):c.21819C>T (p.Asp7273=)
|
rs376651419
|
0.00003
|
|
NM_182961.4(SYNE1):c.21862-19A>T
|
rs200421014
|
0.00003
|
|
NM_182961.4(SYNE1):c.22035T>G (p.Thr7345=)
|
rs750669148
|
0.00003
|
|
NM_182961.4(SYNE1):c.2224G>A (p.Val742Ile)
|
rs777920461
|
0.00003
|
|
NM_182961.4(SYNE1):c.22559G>A (p.Arg7520His)
|
rs752057121
|
0.00003
|
|
NM_182961.4(SYNE1):c.22645C>T (p.Arg7549Cys)
|
rs549357903
|
0.00003
|
|
NM_182961.4(SYNE1):c.22663C>T (p.Arg7555Trp)
|
rs755302191
|
0.00003
|
|
NM_182961.4(SYNE1):c.22807C>G (p.Leu7603Val)
|
rs372246112
|
0.00003
|
|
NM_182961.4(SYNE1):c.22873G>C (p.Val7625Leu)
|
rs749743156
|
0.00003
|
|
NM_182961.4(SYNE1):c.23137C>T (p.Arg7713Cys)
|
rs761198027
|
0.00003
|
|
NM_182961.4(SYNE1):c.23302-8C>T
|
rs376491803
|
0.00003
|
|
NM_182961.4(SYNE1):c.23582A>G (p.Lys7861Arg)
|
rs371656793
|
0.00003
|
|
NM_182961.4(SYNE1):c.23593C>T (p.Arg7865Trp)
|
rs749900550
|
0.00003
|
|
NM_182961.4(SYNE1):c.23875G>A (p.Ala7959Thr)
|
rs780029496
|
0.00003
|
|
NM_182961.4(SYNE1):c.2394+5G>A
|
rs199933019
|
0.00003
|
|
NM_182961.4(SYNE1):c.24038A>G (p.Asp8013Gly)
|
rs766207775
|
0.00003
|
|
NM_182961.4(SYNE1):c.24129+2T>C
|
rs544985182
|
0.00003
|
|
NM_182961.4(SYNE1):c.24162G>A (p.Thr8054=)
|
rs185088779
|
0.00003
|
|
NM_182961.4(SYNE1):c.241C>T (p.Arg81Cys)
|
rs375917264
|
0.00003
|
|
NM_182961.4(SYNE1):c.24226T>C (p.Cys8076Arg)
|
rs756023993
|
0.00003
|
|
NM_182961.4(SYNE1):c.24250G>A (p.Glu8084Lys)
|
rs373016793
|
0.00003
|
|
NM_182961.4(SYNE1):c.24390G>A (p.Gln8130=)
|
rs768084185
|
0.00003
|
|
NM_182961.4(SYNE1):c.24499A>G (p.Ile8167Val)
|
rs147285387
|
0.00003
|
|
NM_182961.4(SYNE1):c.244C>T (p.Arg82Trp)
|
rs772761179
|
0.00003
|
|
NM_182961.4(SYNE1):c.2474C>T (p.Thr825Met)
|
rs777634676
|
0.00003
|
|
NM_182961.4(SYNE1):c.2475G>A (p.Thr825=)
|
rs758181903
|
0.00003
|
|
NM_182961.4(SYNE1):c.24779C>T (p.Ser8260Leu)
|
rs188852595
|
0.00003
|
|
NM_182961.4(SYNE1):c.24784G>A (p.Ala8262Thr)
|
rs886043013
|
0.00003
|
|
NM_182961.4(SYNE1):c.24802G>A (p.Glu8268Lys)
|
rs527527845
|
0.00003
|
|
NM_182961.4(SYNE1):c.24959G>A (p.Gly8320Glu)
|
rs748328529
|
0.00003
|
|
NM_182961.4(SYNE1):c.25983C>T (p.Asp8661=)
|
rs781435849
|
0.00003
|
|
NM_182961.4(SYNE1):c.2759A>G (p.Lys920Arg)
|
rs1395937709
|
0.00003
|
|
NM_182961.4(SYNE1):c.310-449A>T
|
rs759834506
|
0.00003
|
|
NM_182961.4(SYNE1):c.337G>A (p.Asp113Asn)
|
rs990137456
|
0.00003
|
|
NM_182961.4(SYNE1):c.3404A>C (p.Glu1135Ala)
|
rs764928878
|
0.00003
|
|
NM_182961.4(SYNE1):c.3429T>C (p.Asn1143=)
|
rs142372677
|
0.00003
|
|
NM_182961.4(SYNE1):c.3480C>T (p.His1160=)
|
rs757238055
|
0.00003
|
|
NM_182961.4(SYNE1):c.3587C>T (p.Ser1196Phe)
|
rs886061212
|
0.00003
|
|
NM_182961.4(SYNE1):c.3897G>C (p.Ala1299=)
|
rs753027544
|
0.00003
|
|
NM_182961.4(SYNE1):c.3911G>C (p.Gly1304Ala)
|
rs141164314
|
0.00003
|
|
NM_182961.4(SYNE1):c.4125A>T (p.Leu1375Phe)
|
rs544182159
|
0.00003
|
|
NM_182961.4(SYNE1):c.4257G>T (p.Gln1419His)
|
rs142705233
|
0.00003
|
|
NM_182961.4(SYNE1):c.4670T>G (p.Phe1557Cys)
|
rs373642960
|
0.00003
|
|
NM_182961.4(SYNE1):c.4735A>G (p.Ile1579Val)
|
rs138691290
|
0.00003
|
|
NM_182961.4(SYNE1):c.4909G>A (p.Glu1637Lys)
|
rs148885424
|
0.00003
|
|
NM_182961.4(SYNE1):c.495C>A (p.Ser165Arg)
|
rs567913785
|
0.00003
|
|
NM_182961.4(SYNE1):c.5491G>T (p.Gly1831Cys)
|
rs184779168
|
0.00003
|
|
NM_182961.4(SYNE1):c.581+17T>G
|
rs747720370
|
0.00003
|
|
NM_182961.4(SYNE1):c.581+8T>C
|
rs772647830
|
0.00003
|
|
NM_182961.4(SYNE1):c.6151G>C (p.Ala2051Pro)
|
rs376518010
|
0.00003
|
|
NM_182961.4(SYNE1):c.6382-11T>C
|
rs769649824
|
0.00003
|
|
NM_182961.4(SYNE1):c.6522C>T (p.Thr2174=)
|
rs202207841
|
0.00003
|
|
NM_182961.4(SYNE1):c.6984G>A (p.Met2328Ile)
|
rs372524102
|
0.00003
|
|
NM_182961.4(SYNE1):c.7304G>A (p.Arg2435His)
|
rs759461786
|
0.00003
|
|
NM_182961.4(SYNE1):c.7324C>A (p.Leu2442Ile)
|
rs747633088
|
0.00003
|
|
NM_182961.4(SYNE1):c.7878C>T (p.His2626=)
|
rs138196409
|
0.00003
|
|
NM_182961.4(SYNE1):c.7989G>T (p.Arg2663=)
|
rs1268841274
|
0.00003
|
|
NM_182961.4(SYNE1):c.8056G>A (p.Gly2686Ser)
|
rs146916975
|
0.00003
|
|
NM_182961.4(SYNE1):c.8606T>C (p.Met2869Thr)
|
rs371025400
|
0.00003
|
|
NM_182961.4(SYNE1):c.8691C>T (p.Leu2897=)
|
rs368356217
|
0.00003
|
|
NM_182961.4(SYNE1):c.9093A>G (p.Arg3031=)
|
rs149317945
|
0.00003
|
|
NM_182961.4(SYNE1):c.9114A>G (p.Gly3038=)
|
rs754978329
|
0.00003
|
|
NM_182961.4(SYNE1):c.9504A>G (p.Leu3168=)
|
rs1020832262
|
0.00003
|
|
NM_182961.4(SYNE1):c.9679G>A (p.Glu3227Lys)
|
rs1024177161
|
0.00003
|
|
NM_182961.4(SYNE1):c.9959C>T (p.Thr3320Met)
|
rs548283137
|
0.00003
|
|
NM_000784.4(CYP27A1):c.1029G>A (p.Thr343=)
|
rs771343931
|
0.00002
|
|
NM_000784.4(CYP27A1):c.1072C>T (p.Gln358Ter)
|
rs533885672
|
0.00002
|
|
NM_000784.4(CYP27A1):c.1083G>T (p.Leu361Phe)
|
rs1215745374
|
0.00002
|
|
NM_000784.4(CYP27A1):c.1089G>A (p.Glu363=)
|
rs963559886
|
0.00002
|
|
NM_000784.4(CYP27A1):c.1298G>A (p.Arg433Gln)
|
rs201107032
|
0.00002
|
|
NM_000784.4(CYP27A1):c.1373C>T (p.Pro458Leu)
|
rs781360671
|
0.00002
|
|
NM_000784.4(CYP27A1):c.1470C>T (p.Leu490=)
|
rs1229201370
|
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.322C>T (p.Leu108=)
|
rs192344487
|
0.00002
|
|
NM_000784.4(CYP27A1):c.368A>C (p.Lys123Thr)
|
rs778424069
|
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.507G>A (p.Ala169=)
|
rs776260288
|
0.00002
|
|
NM_000784.4(CYP27A1):c.518T>C (p.Leu173Pro)
|
rs1378044084
|
0.00002
|
|
NM_000784.4(CYP27A1):c.525G>A (p.Thr175=)
|
rs200506778
|
0.00002
|
|
NM_000784.4(CYP27A1):c.563G>A (p.Arg188Gln)
|
rs754310499
|
0.00002
|
|
NM_000784.4(CYP27A1):c.666C>T (p.Phe222=)
|
rs751692931
|
0.00002
|
|
NM_000784.4(CYP27A1):c.747G>A (p.Gln249=)
|
rs764766872
|
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_001044385.3(TMEM237):c.137-3T>C
|
rs540193518
|
0.00002
|
|
NM_001044385.3(TMEM237):c.149T>C (p.Leu50Ser)
|
rs1269827788
|
0.00002
|
|
NM_001044385.3(TMEM237):c.206C>G (p.Thr69Ser)
|
rs372581479
|
0.00002
|
|
NM_001044385.3(TMEM237):c.274+18G>A
|
rs762194214
|
0.00002
|
|
NM_001044385.3(TMEM237):c.353C>T (p.Pro118Leu)
|
rs17856844
|
0.00002
|
|
NM_001044385.3(TMEM237):c.553+1G>A
|
rs80034299
|
0.00002
|
|
NM_001044385.3(TMEM237):c.553C>T (p.Arg185Trp)
|
rs754056989
|
0.00002
|
|
NM_001044385.3(TMEM237):c.74+16A>G
|
rs538615771
|
0.00002
|
|
NM_001044385.3(TMEM237):c.75-7G>A
|
rs1443411958
|
0.00002
|
|
NM_001044385.3(TMEM237):c.936A>G (p.Ala312=)
|
rs934193386
|
0.00002
|
|
NM_001044385.3(TMEM237):c.943+1G>T
|
rs748510210
|
0.00002
|
|
NM_001077418.3(TMEM231):c.-17G>A
|
rs768513169
|
0.00002
|
|
NM_001077418.3(TMEM231):c.124G>A (p.Ala42Thr)
|
rs1197109885
|
0.00002
|
|
NM_001077418.3(TMEM231):c.139+17C>T
|
rs759518508
|
0.00002
|
|
NM_001077418.3(TMEM231):c.140-35C>T
|
rs750621210
|
0.00002
|
|
NM_001077418.3(TMEM231):c.166G>C (p.Glu56Gln)
|
rs771783989
|
0.00002
|
|
NM_001077418.3(TMEM231):c.232G>T (p.Asp78Tyr)
|
rs753709447
|
0.00002
|
|
NM_001077418.3(TMEM231):c.247T>G (p.Trp83Gly)
|
rs774091057
|
0.00002
|
|
NM_001077418.3(TMEM231):c.269A>G (p.Asn90Ser)
|
rs775968168
|
0.00002
|
|
NM_001077418.3(TMEM231):c.309+20G>T
|
rs1186787656
|
0.00002
|
|
NM_001077418.3(TMEM231):c.387G>A (p.Thr129=)
|
rs774761408
|
0.00002
|
|
NM_001077418.3(TMEM231):c.456G>A (p.Val152=)
|
rs571562822
|
0.00002
|
|
NM_001077418.3(TMEM231):c.464G>C (p.Ser155Thr)
|
rs768932063
|
0.00002
|
|
NM_001077418.3(TMEM231):c.582+9G>A
|
rs1266194059
|
0.00002
|
|
NM_001077418.3(TMEM231):c.5C>T (p.Ala2Val)
|
rs778298588
|
0.00002
|
|
NM_001077418.3(TMEM231):c.617A>G (p.Tyr206Cys)
|
rs374279951
|
0.00002
|
|
NM_001077418.3(TMEM231):c.805G>A (p.Ala269Thr)
|
rs775383043
|
0.00002
|
|
NM_001077418.3(TMEM231):c.883C>G (p.Gln295Glu)
|
rs761280513
|
0.00002
|
|
NM_001077418.3(TMEM231):c.919C>T (p.Arg307Trp)
|
rs770715825
|
0.00002
|
|
NM_001244189.2(KIAA0586):c.4T>C (p.Phe2Leu)
|
rs1251319519
|
0.00002
|
|
NM_001244189.2(KIAA0586):c.9+14C>T
|
rs1036728165
|
0.00002
|
|
NM_001244189.2(KIAA0586):c.9+1G>A
|
rs1490434047
|
0.00002
|
|
NM_001329943.3(KIAA0586):c.1130-14C>G
|
rs1457711769
|
0.00002
|
|
NM_001329943.3(KIAA0586):c.1253G>A (p.Arg418Lys)
|
rs772739103
|
0.00002
|
|
NM_001329943.3(KIAA0586):c.1478G>C (p.Gly493Ala)
|
rs780301208
|
0.00002
|
|
NM_001329943.3(KIAA0586):c.1529G>A (p.Arg510His)
|
rs749710241
|
0.00002
|
|
NM_001329943.3(KIAA0586):c.1656+7C>A
|
rs777449141
|
0.00002
|
|
NM_001329943.3(KIAA0586):c.2033G>A (p.Arg678Lys)
|
rs1040832003
|
0.00002
|
|
NM_001329943.3(KIAA0586):c.2171A>G (p.Gln724Arg)
|
rs758553529
|
0.00002
|
|
NM_001329943.3(KIAA0586):c.2201C>G (p.Pro734Arg)
|
rs372160214
|
0.00002
|
|
NM_001329943.3(KIAA0586):c.2269A>G (p.Asn757Asp)
|
rs770532816
|
0.00002
|
|
NM_001329943.3(KIAA0586):c.2279C>A (p.Thr760Asn)
|
rs745459956
|
0.00002
|
|
NM_001329943.3(KIAA0586):c.2288C>T (p.Pro763Leu)
|
rs762324359
|
0.00002
|
|
NM_001329943.3(KIAA0586):c.2338A>G (p.Ile780Val)
|
rs752597351
|
0.00002
|
|
NM_001329943.3(KIAA0586):c.2353C>T (p.Arg785Ter)
|
rs1064793157
|
0.00002
|
|
NM_001329943.3(KIAA0586):c.2634+4A>G
|
rs1373493143
|
0.00002
|
|
NM_001329943.3(KIAA0586):c.269G>A (p.Ser90Asn)
|
rs780403471
|
0.00002
|
|
NM_001329943.3(KIAA0586):c.2743G>A (p.Ala915Thr)
|
rs757075176
|
0.00002
|
|
NM_001329943.3(KIAA0586):c.2765C>T (p.Ala922Val)
|
rs778611816
|
0.00002
|
|
NM_001329943.3(KIAA0586):c.2810A>G (p.Asn937Ser)
|
rs1287641719
|
0.00002
|
|
NM_001329943.3(KIAA0586):c.2984A>G (p.Asp995Gly)
|
rs368583200
|
0.00002
|
|
NM_001329943.3(KIAA0586):c.3030C>T (p.Asn1010=)
|
rs769869324
|
0.00002
|
|
NM_001329943.3(KIAA0586):c.3144G>A (p.Pro1048=)
|
rs540255320
|
0.00002
|
|
NM_001329943.3(KIAA0586):c.3259G>A (p.Asp1087Asn)
|
rs780444812
|
0.00002
|
|
NM_001329943.3(KIAA0586):c.3260A>G (p.Asp1087Gly)
|
rs747213685
|
0.00002
|
|
NM_001329943.3(KIAA0586):c.3343A>G (p.Thr1115Ala)
|
rs773967297
|
0.00002
|
|
NM_001329943.3(KIAA0586):c.3432A>C (p.Ser1144=)
|
rs1031513625
|
0.00002
|
|
NM_001329943.3(KIAA0586):c.3511C>G (p.Leu1171Val)
|
rs752970542
|
0.00002
|
|
NM_001329943.3(KIAA0586):c.3580C>T (p.Gln1194Ter)
|
rs373763986
|
0.00002
|
|
NM_001329943.3(KIAA0586):c.3668C>G (p.Ser1223Ter)
|
rs776003330
|
0.00002
|
|
NM_001329943.3(KIAA0586):c.3782-18T>C
|
rs1430875009
|
0.00002
|
|
NM_001329943.3(KIAA0586):c.3849C>T (p.Ala1283=)
|
rs113191202
|
0.00002
|
|
NM_001329943.3(KIAA0586):c.3894G>A (p.Arg1298=)
|
rs1375416810
|
0.00002
|
|
NM_001329943.3(KIAA0586):c.3971A>G (p.Gln1324Arg)
|
rs554032625
|
0.00002
|
|
NM_001329943.3(KIAA0586):c.4093C>T (p.Pro1365Ser)
|
rs776582851
|
0.00002
|
|
NM_001329943.3(KIAA0586):c.411-1420A>G
|
rs1037899594
|
0.00002
|
|
NM_001329943.3(KIAA0586):c.4169-8G>C
|
rs766302985
|
0.00002
|
|
NM_001329943.3(KIAA0586):c.4207A>G (p.Met1403Val)
|
rs890327400
|
0.00002
|
|
NM_001329943.3(KIAA0586):c.4451G>A (p.Arg1484Gln)
|
rs746312329
|
0.00002
|
|
NM_001329943.3(KIAA0586):c.704_705del (p.Gln235fs)
|
rs770566897
|
0.00002
|
|
NM_001329943.3(KIAA0586):c.768G>C (p.Arg256Ser)
|
rs757161449
|
0.00002
|
|
NM_001329943.3(KIAA0586):c.836C>T (p.Thr279Ile)
|
rs779264142
|
0.00002
|
|
NM_001378969.1(KCND3):c.1353C>T (p.Asn451=)
|
rs148320813
|
0.00002
|
|
NM_001378969.1(KCND3):c.1368G>A (p.Leu456=)
|
rs17215451
|
0.00002
|
|
NM_001378969.1(KCND3):c.1502G>A (p.Arg501Gln)
|
rs764928165
|
0.00002
|
|
NM_001378969.1(KCND3):c.1519-5C>T
|
rs376408039
|
0.00002
|
|
NM_001378969.1(KCND3):c.1752C>A (p.Pro584=)
|
rs771385731
|
0.00002
|
|
NM_001378969.1(KCND3):c.1794C>T (p.Asp598=)
|
rs181971539
|
0.00002
|
|
NM_001378969.1(KCND3):c.1946T>C (p.Val649Ala)
|
rs760907112
|
0.00002
|
|
NM_001378969.1(KCND3):c.318G>A (p.Pro106=)
|
rs770807162
|
0.00002
|
|
NM_001378969.1(KCND3):c.321C>A (p.Arg107=)
|
rs746952612
|
0.00002
|
|
NM_001378969.1(KCND3):c.348C>T (p.Asp116=)
|
rs756600533
|
0.00002
|
|
NM_001378969.1(KCND3):c.514G>A (p.Ala172Thr)
|
rs149488365
|
0.00002
|
|
NM_001378969.1(KCND3):c.576C>T (p.Phe192=)
|
rs759120826
|
0.00002
|
|
NM_001378969.1(KCND3):c.879C>T (p.Arg293=)
|
rs147739517
|
0.00002
|
|
NM_001378969.1(KCND3):c.9C>T (p.Ala3=)
|
rs777097802
|
0.00002
|
|
NM_001382391.1(CSPP1):c.-10-4A>T
|
rs762753703
|
0.00002
|
|
NM_001382391.1(CSPP1):c.-96C>T
|
rs751458139
|
0.00002
|
|
NM_001382391.1(CSPP1):c.1188-16del
|
rs773422166
|
0.00002
|
|
NM_001382391.1(CSPP1):c.1372A>G (p.Thr458Ala)
|
rs533327313
|
0.00002
|
|
NM_001382391.1(CSPP1):c.1618+16G>A
|
rs768004861
|
0.00002
|
|
NM_001382391.1(CSPP1):c.1651G>A (p.Ala551Thr)
|
rs373749366
|
0.00002
|
|
NM_001382391.1(CSPP1):c.1684G>A (p.Ala562Thr)
|
rs781313362
|
0.00002
|
|
NM_001382391.1(CSPP1):c.1976-2A>G
|
rs1320076769
|
0.00002
|
|
NM_001382391.1(CSPP1):c.1984A>G (p.Asn662Asp)
|
rs746165769
|
0.00002
|
|
NM_001382391.1(CSPP1):c.2032A>C (p.Arg678=)
|
rs762725926
|
0.00002
|
|
NM_001382391.1(CSPP1):c.2128+10C>A
|
rs769248386
|
0.00002
|
|
NM_001382391.1(CSPP1):c.2314C>T (p.Arg772Trp)
|
rs369228037
|
0.00002
|
|
NM_001382391.1(CSPP1):c.2329A>C (p.Arg777=)
|
rs758218835
|
0.00002
|
|
NM_001382391.1(CSPP1):c.2392-14T>C
|
rs781185001
|
0.00002
|
|
NM_001382391.1(CSPP1):c.2624T>C (p.Ile875Thr)
|
rs751572039
|
0.00002
|
|
NM_001382391.1(CSPP1):c.2762G>A (p.Arg921His)
|
rs376724794
|
0.00002
|
|
NM_001382391.1(CSPP1):c.2777G>A (p.Arg926His)
|
rs775629891
|
0.00002
|
|
NM_001382391.1(CSPP1):c.2919C>T (p.Asp973=)
|
rs759957152
|
0.00002
|
|
NM_001382391.1(CSPP1):c.2968+10T>C
|
rs374325149
|
0.00002
|
|
NM_001382391.1(CSPP1):c.3139G>C (p.Val1047Leu)
|
rs755275549
|
0.00002
|
|
NM_001382391.1(CSPP1):c.3221-19C>T
|
rs750846829
|
0.00002
|
|
NM_001382391.1(CSPP1):c.3268C>T (p.Pro1090Ser)
|
rs200930857
|
0.00002
|
|
NM_001382391.1(CSPP1):c.3292C>T (p.Arg1098Trp)
|
rs759630451
|
0.00002
|
|
NM_001382391.1(CSPP1):c.3330+11G>A
|
rs1339355378
|
0.00002
|
|
NM_001382391.1(CSPP1):c.3424C>T (p.Arg1142Ter)
|
rs201261521
|
0.00002
|
|
NM_001382391.1(CSPP1):c.3579G>A (p.Thr1193=)
|
rs552763349
|
0.00002
|
|
NM_001382391.1(CSPP1):c.3638C>G (p.Pro1213Arg)
|
rs527426163
|
0.00002
|
|
NM_001382391.1(CSPP1):c.3645T>G (p.Thr1215=)
|
rs749332092
|
0.00002
|
|
NM_001382391.1(CSPP1):c.404G>A (p.Arg135His)
|
rs1386679081
|
0.00002
|
|
NM_001382391.1(CSPP1):c.430_431del (p.Arg144fs)
|
rs750696284
|
0.00002
|
|
NM_001382391.1(CSPP1):c.483+10G>C
|
rs758310938
|
0.00002
|
|
NM_001382391.1(CSPP1):c.683A>G (p.Asn228Ser)
|
rs765332591
|
0.00002
|
|
NM_001382391.1(CSPP1):c.729C>G (p.Asn243Lys)
|
rs749026327
|
0.00002
|
|
NM_001382391.1(CSPP1):c.744G>A (p.Arg248=)
|
rs1395679668
|
0.00002
|
|
NM_001382391.1(CSPP1):c.799C>T (p.Arg267Cys)
|
rs114953032
|
0.00002
|
|
NM_001382391.1(CSPP1):c.800G>A (p.Arg267His)
|
rs781737308
|
0.00002
|
|
NM_001382391.1(CSPP1):c.821A>G (p.His274Arg)
|
rs377496424
|
0.00002
|
|
NM_001382391.1(CSPP1):c.945G>A (p.Gly315=)
|
rs759906585
|
0.00002
|
|
NM_001382391.1(CSPP1):c.972G>C (p.Gly324=)
|
rs750069772
|
0.00002
|
|
NM_015046.7(SETX):c.1099-12C>A
|
rs752063617
|
0.00002
|
|
NM_015046.7(SETX):c.1492A>G (p.Thr498Ala)
|
rs779544809
|
0.00002
|
|
NM_015046.7(SETX):c.2101G>A (p.Ala701Thr)
|
rs769620847
|
0.00002
|
|
NM_015046.7(SETX):c.2338A>G (p.Thr780Ala)
|
rs1481664998
|
0.00002
|
|
NM_015046.7(SETX):c.2395C>T (p.His799Tyr)
|
rs200459144
|
0.00002
|
|
NM_015046.7(SETX):c.2425A>G (p.Ile809Val)
|
rs906452681
|
0.00002
|
|
NM_015046.7(SETX):c.2842C>A (p.Pro948Thr)
|
rs778882347
|
0.00002
|
|
NM_015046.7(SETX):c.2921T>C (p.Ile974Thr)
|
rs765768857
|
0.00002
|
|
NM_015046.7(SETX):c.3200C>T (p.Thr1067Ile)
|
rs374091487
|
0.00002
|
|
NM_015046.7(SETX):c.343C>G (p.Leu115Val)
|
rs538372427
|
0.00002
|
|
NM_015046.7(SETX):c.3450A>G (p.Glu1150=)
|
rs771495291
|
0.00002
|
|
NM_015046.7(SETX):c.3605A>G (p.Asp1202Gly)
|
rs138167195
|
0.00002
|
|
NM_015046.7(SETX):c.3770C>T (p.Ser1257Leu)
|
rs773081186
|
0.00002
|
|
NM_015046.7(SETX):c.3955G>A (p.Val1319Ile)
|
rs771168824
|
0.00002
|
|
NM_015046.7(SETX):c.4113A>G (p.Thr1371=)
|
rs750697305
|
0.00002
|
|
NM_015046.7(SETX):c.4180T>C (p.Ser1394Pro)
|
rs780078856
|
0.00002
|
|
NM_015046.7(SETX):c.4334T>C (p.Val1445Ala)
|
rs759653127
|
0.00002
|
|
NM_015046.7(SETX):c.4369A>G (p.Ile1457Val)
|
rs747804357
|
0.00002
|
|
NM_015046.7(SETX):c.4480G>T (p.Asp1494Tyr)
|
rs202047872
|
0.00002
|
|
NM_015046.7(SETX):c.4672A>G (p.Thr1558Ala)
|
rs764920626
|
0.00002
|
|
NM_015046.7(SETX):c.4683G>C (p.Gln1561His)
|
rs772991134
|
0.00002
|
|
NM_015046.7(SETX):c.477T>A (p.Phe159Leu)
|
rs1473646250
|
0.00002
|
|
NM_015046.7(SETX):c.4906A>G (p.Lys1636Glu)
|
rs368931174
|
0.00002
|
|
NM_015046.7(SETX):c.5278G>A (p.Ala1760Thr)
|
rs764316153
|
0.00002
|
|
NM_015046.7(SETX):c.5322G>T (p.Gln1774His)
|
rs771691157
|
0.00002
|
|
NM_015046.7(SETX):c.5403A>C (p.Lys1801Asn)
|
rs762071010
|
0.00002
|
|
NM_015046.7(SETX):c.5502C>T (p.His1834=)
|
rs117410554
|
0.00002
|
|
NM_015046.7(SETX):c.5535C>T (p.Arg1845=)
|
rs200433173
|
0.00002
|
|
NM_015046.7(SETX):c.5552G>A (p.Arg1851His)
|
rs137978070
|
0.00002
|
|
NM_015046.7(SETX):c.5859A>G (p.Pro1953=)
|
rs1423165535
|
0.00002
|
|
NM_015046.7(SETX):c.6356T>C (p.Val2119Ala)
|
rs781741533
|
0.00002
|
|
NM_015046.7(SETX):c.6668A>G (p.Tyr2223Cys)
|
rs747913385
|
0.00002
|
|
NM_015046.7(SETX):c.7089C>T (p.Phe2363=)
|
rs141497098
|
0.00002
|
|
NM_015046.7(SETX):c.7287+9C>A
|
rs769170686
|
0.00002
|
|
NM_015046.7(SETX):c.7967A>G (p.Asn2656Ser)
|
rs745394467
|
0.00002
|
|
NM_015046.7(SETX):c.855T>C (p.Pro285=)
|
rs141736312
|
0.00002
|
|
NM_015046.7(SETX):c.867G>A (p.Ala289=)
|
rs769799706
|
0.00002
|
|
NM_015046.7(SETX):c.895C>T (p.Arg299Cys)
|
rs777182592
|
0.00002
|
|
NM_015046.7(SETX):c.963C>T (p.Asn321=)
|
rs750254836
|
0.00002
|
|
NM_016169.4(SUFU):c.1008C>T (p.Ala336=)
|
rs770049693
|
0.00002
|
|
NM_016169.4(SUFU):c.1010A>G (p.His337Arg)
|
rs377274250
|
0.00002
|
|
NM_016169.4(SUFU):c.1157+7G>A
|
rs371548374
|
0.00002
|
|
NM_016169.4(SUFU):c.1190A>G (p.Tyr397Cys)
|
rs766508656
|
0.00002
|
|
NM_016169.4(SUFU):c.1221G>A (p.Thr407=)
|
rs555064651
|
0.00002
|
|
NM_016169.4(SUFU):c.1280A>G (p.His427Arg)
|
rs771305734
|
0.00002
|
|
NM_016169.4(SUFU):c.1300C>T (p.Leu434=)
|
rs369670140
|
0.00002
|
|
NM_016169.4(SUFU):c.1325A>G (p.Lys442Arg)
|
rs772598739
|
0.00002
|
|
NM_016169.4(SUFU):c.1437C>T (p.Phe479=)
|
rs768454343
|
0.00002
|
|
NM_016169.4(SUFU):c.169A>G (p.Ile57Val)
|
rs377614167
|
0.00002
|
|
NM_016169.4(SUFU):c.225G>T (p.Arg75Ser)
|
rs141532626
|
0.00002
|
|
NM_016169.4(SUFU):c.275G>C (p.Ser92Thr)
|
rs746322193
|
0.00002
|
|
NM_016169.4(SUFU):c.405A>G (p.Thr135=)
|
rs760827494
|
0.00002
|
|
NM_016169.4(SUFU):c.441C>T (p.Tyr147=)
|
rs201489422
|
0.00002
|
|
NM_016169.4(SUFU):c.455-18C>T
|
rs760955559
|
0.00002
|
|
NM_016169.4(SUFU):c.597+6G>A
|
rs1038799345
|
0.00002
|
|
NM_016169.4(SUFU):c.671G>A (p.Arg224Gln)
|
rs199673680
|
0.00002
|
|
NM_016169.4(SUFU):c.678G>A (p.Val226=)
|
rs201328407
|
0.00002
|
|
NM_016169.4(SUFU):c.67C>T (p.Pro23Ser)
|
rs766666529
|
0.00002
|
|
NM_016169.4(SUFU):c.682A>G (p.Ile228Val)
|
rs555976050
|
0.00002
|
|
NM_016169.4(SUFU):c.683+8C>T
|
rs369232884
|
0.00002
|
|
NM_016169.4(SUFU):c.684-14T>G
|
rs2063433799
|
0.00002
|
|
NM_016169.4(SUFU):c.684-17C>G
|
rs1454924481
|
0.00002
|
|
NM_016169.4(SUFU):c.703A>G (p.Ile235Val)
|
rs144666812
|
0.00002
|
|
NM_016169.4(SUFU):c.715C>A (p.Arg239=)
|
rs369465986
|
0.00002
|
|
NM_016169.4(SUFU):c.807C>T (p.Val269=)
|
rs919110211
|
0.00002
|
|
NM_016169.4(SUFU):c.892C>T (p.Arg298Trp)
|
rs771255988
|
0.00002
|
|
NM_016169.4(SUFU):c.911-16A>C
|
rs777832144
|
0.00002
|
|
NM_016169.4(SUFU):c.926G>A (p.Arg309Gln)
|
rs770246373
|
0.00002
|
|
NM_016169.4(SUFU):c.928G>A (p.Glu310Lys)
|
rs376797758
|
0.00002
|
|
NM_016169.4(SUFU):c.949G>A (p.Glu317Lys)
|
rs988284678
|
0.00002
|
|
NM_016373.4(WWOX):c.1057-4C>T
|
rs555716977
|
0.00002
|
|
NM_016373.4(WWOX):c.1057C>A (p.Gln353Lys)
|
rs770155582
|
0.00002
|
|
NM_016373.4(WWOX):c.106A>G (p.Asn36Asp)
|
rs1385155926
|
0.00002
|
|
NM_016373.4(WWOX):c.1126T>C (p.Phe376Leu)
|
rs1474278988
|
0.00002
|
|
NM_016373.4(WWOX):c.1165C>G (p.Gln389Glu)
|
rs1484856529
|
0.00002
|
|
NM_016373.4(WWOX):c.172+19A>G
|
rs1198975338
|
0.00002
|
|
NM_016373.4(WWOX):c.183C>T (p.Tyr61=)
|
rs759766243
|
0.00002
|
|
NM_016373.4(WWOX):c.210C>T (p.Asn70=)
|
rs762102064
|
0.00002
|
|
NM_016373.4(WWOX):c.282G>A (p.Val94=)
|
rs771301969
|
0.00002
|
|
NM_016373.4(WWOX):c.410-3T>C
|
rs201178351
|
0.00002
|
|
NM_016373.4(WWOX):c.414C>T (p.Phe138=)
|
rs767693780
|
0.00002
|
|
NM_016373.4(WWOX):c.419C>A (p.Thr140Asn)
|
rs750464034
|
0.00002
|
|
NM_016373.4(WWOX):c.439C>T (p.His147Tyr)
|
rs746480783
|
0.00002
|
|
NM_016373.4(WWOX):c.440A>G (p.His147Arg)
|
rs188859796
|
0.00002
|
|
NM_016373.4(WWOX):c.453G>A (p.Val151=)
|
rs375649496
|
0.00002
|
|
NM_016373.4(WWOX):c.481G>A (p.Ala161Thr)
|
rs779724017
|
0.00002
|
|
NM_016373.4(WWOX):c.555T>C (p.Ala185=)
|
rs748722105
|
0.00002
|
|
NM_016373.4(WWOX):c.651C>G (p.Pro217=)
|
rs746893085
|
0.00002
|
|
NM_016373.4(WWOX):c.658C>G (p.Leu220Val)
|
rs770774574
|
0.00002
|
|
NM_016373.4(WWOX):c.697C>A (p.His233Asn)
|
rs757863128
|
0.00002
|
|
NM_016373.4(WWOX):c.748T>A (p.Ser250Thr)
|
rs941156863
|
0.00002
|
|
NM_016373.4(WWOX):c.790C>T (p.Arg264Ter)
|
rs756762196
|
0.00002
|
|
NM_016373.4(WWOX):c.791+14G>A
|
rs753689854
|
0.00002
|
|
NM_016373.4(WWOX):c.791+4G>T
|
rs766952918
|
0.00002
|
|
NM_016373.4(WWOX):c.791+5G>C
|
rs756074406
|
0.00002
|
|
NM_016373.4(WWOX):c.792-6T>G
|
rs771690273
|
0.00002
|
|
NM_016373.4(WWOX):c.792-9A>G
|
rs376320385
|
0.00002
|
|
NM_016373.4(WWOX):c.836G>A (p.Arg279His)
|
rs748534396
|
0.00002
|
|
NM_016373.4(WWOX):c.919C>G (p.Leu307Val)
|
rs200320711
|
0.00002
|
|
NM_016373.4(WWOX):c.933C>G (p.Leu311=)
|
rs757508300
|
0.00002
|
|
NM_016373.4(WWOX):c.942C>T (p.Arg314=)
|
rs568012503
|
0.00002
|
|
NM_016373.4(WWOX):c.962T>C (p.Val321Ala)
|
rs774783221
|
0.00002
|
|
NM_016373.4(WWOX):c.966T>A (p.His322Gln)
|
rs750797952
|
0.00002
|
|
NM_016373.4(WWOX):c.997C>T (p.Arg333Cys)
|
rs369281766
|
0.00002
|
|
NM_016464.5(TMEM138):c.128+8C>T
|
rs769334895
|
0.00002
|
|
NM_016464.5(TMEM138):c.136G>C (p.Asp46His)
|
rs375503806
|
0.00002
|
|
NM_016464.5(TMEM138):c.192C>T (p.Phe64=)
|
rs199841349
|
0.00002
|
|
NM_016464.5(TMEM138):c.307C>T (p.Arg103Cys)
|
rs202210746
|
0.00002
|
|
NM_016464.5(TMEM138):c.426C>T (p.Gly142=)
|
rs781330063
|
0.00002
|
|
NM_018718.3(CEP41):c.1037A>G (p.Gln346Arg)
|
rs782371437
|
0.00002
|
|
NM_018718.3(CEP41):c.1050T>G (p.Gly350=)
|
rs374440977
|
0.00002
|
|
NM_018718.3(CEP41):c.1060G>A (p.Ala354Thr)
|
rs201490201
|
0.00002
|
|
NM_018718.3(CEP41):c.1115G>A (p.Trp372Ter)
|
rs139909606
|
0.00002
|
|
NM_018718.3(CEP41):c.205C>T (p.Leu69=)
|
rs144793783
|
0.00002
|
|
NM_018718.3(CEP41):c.277+19G>A
|
rs377242873
|
0.00002
|
|
NM_018718.3(CEP41):c.289G>A (p.Ala97Thr)
|
rs200516165
|
0.00002
|
|
NM_018718.3(CEP41):c.514C>T (p.Pro172Ser)
|
rs781914996
|
0.00002
|
|
NM_018718.3(CEP41):c.589A>T (p.Ile197Phe)
|
rs782265732
|
0.00002
|
|
NM_018718.3(CEP41):c.653A>C (p.His218Pro)
|
rs527896814
|
0.00002
|
|
NM_018718.3(CEP41):c.664A>G (p.Ile222Val)
|
rs560824415
|
0.00002
|
|
NM_018718.3(CEP41):c.723G>A (p.Glu241=)
|
rs782303641
|
0.00002
|
|
NM_018718.3(CEP41):c.781T>C (p.Phe261Leu)
|
rs782241458
|
0.00002
|
|
NM_018718.3(CEP41):c.812C>T (p.Pro271Leu)
|
rs782704918
|
0.00002
|
|
NM_182961.4(SYNE1):c.10039G>A (p.Val3347Ile)
|
rs762448899
|
0.00002
|
|
NM_182961.4(SYNE1):c.10070C>T (p.Pro3357Leu)
|
rs748499952
|
0.00002
|
|
NM_182961.4(SYNE1):c.1016T>C (p.Met339Thr)
|
rs1489130675
|
0.00002
|
|
NM_182961.4(SYNE1):c.10474C>T (p.Arg3492Cys)
|
rs531503159
|
0.00002
|
|
NM_182961.4(SYNE1):c.10568G>A (p.Gly3523Asp)
|
rs766218121
|
0.00002
|
|
NM_182961.4(SYNE1):c.10624T>C (p.Cys3542Arg)
|
rs751032216
|
0.00002
|
|
NM_182961.4(SYNE1):c.10762G>A (p.Glu3588Lys)
|
rs371209532
|
0.00002
|
|
NM_182961.4(SYNE1):c.11086C>G (p.Gln3696Glu)
|
rs377095831
|
0.00002
|
|
NM_182961.4(SYNE1):c.1126G>A (p.Gly376Ser)
|
rs757408388
|
0.00002
|
|
NM_182961.4(SYNE1):c.11381T>A (p.Met3794Lys)
|
rs143519691
|
0.00002
|
|
NM_182961.4(SYNE1):c.114C>T (p.Asn38=)
|
rs150562892
|
0.00002
|
|
NM_182961.4(SYNE1):c.11609A>G (p.Glu3870Gly)
|
rs771572017
|
0.00002
|
|
NM_182961.4(SYNE1):c.11692C>A (p.Gln3898Lys)
|
rs768435800
|
0.00002
|
|
NM_182961.4(SYNE1):c.11711A>G (p.Gln3904Arg)
|
rs771294384
|
0.00002
|
|
NM_182961.4(SYNE1):c.11962G>A (p.Asp3988Asn)
|
rs148782440
|
0.00002
|
|
NM_182961.4(SYNE1):c.12035G>A (p.Gly4012Asp)
|
rs745342797
|
0.00002
|
|
NM_182961.4(SYNE1):c.12323C>T (p.Ala4108Val)
|
rs560488372
|
0.00002
|
|
NM_182961.4(SYNE1):c.123G>A (p.Leu41=)
|
rs757646961
|
0.00002
|
|
NM_182961.4(SYNE1):c.12529-11T>G
|
rs886977669
|
0.00002
|
|
NM_182961.4(SYNE1):c.12658G>A (p.Asp4220Asn)
|
rs201449723
|
0.00002
|
|
NM_182961.4(SYNE1):c.12704A>G (p.Asp4235Gly)
|
rs964082904
|
0.00002
|
|
NM_182961.4(SYNE1):c.1305C>T (p.His435=)
|
rs539575253
|
0.00002
|
|
NM_182961.4(SYNE1):c.13105G>A (p.Glu4369Lys)
|
rs777182389
|
0.00002
|
|
NM_182961.4(SYNE1):c.13181T>G (p.Leu4394Arg)
|
rs763501028
|
0.00002
|
|
NM_182961.4(SYNE1):c.13209G>A (p.Ser4403=)
|
rs773593843
|
0.00002
|
|
NM_182961.4(SYNE1):c.13222G>A (p.Ala4408Thr)
|
rs368709678
|
0.00002
|
|
NM_182961.4(SYNE1):c.13299C>T (p.His4433=)
|
rs763090658
|
0.00002
|
|
NM_182961.4(SYNE1):c.13A>G (p.Arg5Gly)
|
rs777385898
|
0.00002
|
|
NM_182961.4(SYNE1):c.14116G>A (p.Val4706Ile)
|
rs374596074
|
0.00002
|
|
NM_182961.4(SYNE1):c.14335G>T (p.Ala4779Ser)
|
rs368490158
|
0.00002
|
|
NM_182961.4(SYNE1):c.14349C>T (p.His4783=)
|
rs767810691
|
0.00002
|
|
NM_182961.4(SYNE1):c.14458T>A (p.Ser4820Thr)
|
rs999907923
|
0.00002
|
|
NM_182961.4(SYNE1):c.14513A>G (p.His4838Arg)
|
rs577675508
|
0.00002
|
|
NM_182961.4(SYNE1):c.14577G>C (p.Gln4859His)
|
rs369433602
|
0.00002
|
|
NM_182961.4(SYNE1):c.14644C>T (p.Arg4882Ter)
|
rs375077588
|
0.00002
|
|
NM_182961.4(SYNE1):c.14945G>A (p.Arg4982His)
|
rs754495941
|
0.00002
|
|
NM_182961.4(SYNE1):c.14951G>C (p.Arg4984Thr)
|
rs762212036
|
0.00002
|
|
NM_182961.4(SYNE1):c.1502T>C (p.Met501Thr)
|
rs202149617
|
0.00002
|
|
NM_182961.4(SYNE1):c.15053T>A (p.Leu5018Gln)
|
rs772978925
|
0.00002
|
|
NM_182961.4(SYNE1):c.15222A>C (p.Lys5074Asn)
|
rs780677467
|
0.00002
|
|
NM_182961.4(SYNE1):c.15399G>A (p.Ser5133=)
|
rs761249756
|
0.00002
|
|
NM_182961.4(SYNE1):c.15882G>T (p.Met5294Ile)
|
rs770022371
|
0.00002
|
|
NM_182961.4(SYNE1):c.15918C>T (p.Asn5306=)
|
rs1354133843
|
0.00002
|
|
NM_182961.4(SYNE1):c.15942T>C (p.Asn5314=)
|
rs555697165
|
0.00002
|
|
NM_182961.4(SYNE1):c.16167T>C (p.Tyr5389=)
|
rs200796273
|
0.00002
|
|
NM_182961.4(SYNE1):c.16198T>C (p.Leu5400=)
|
rs541916760
|
0.00002
|
|
NM_182961.4(SYNE1):c.16237-13del
|
rs758437735
|
0.00002
|
|
NM_182961.4(SYNE1):c.16288C>T (p.Leu5430Phe)
|
rs377227289
|
0.00002
|
|
NM_182961.4(SYNE1):c.16371A>C (p.Gln5457His)
|
rs370002959
|
0.00002
|
|
NM_182961.4(SYNE1):c.16553G>A (p.Arg5518Gln)
|
rs150604289
|
0.00002
|
|
NM_182961.4(SYNE1):c.16726T>C (p.Ser5576Pro)
|
rs373436725
|
0.00002
|
|
NM_182961.4(SYNE1):c.16897-13A>G
|
rs754825945
|
0.00002
|
|
NM_182961.4(SYNE1):c.17014C>T (p.Arg5672Trp)
|
rs780794124
|
0.00002
|
|
NM_182961.4(SYNE1):c.17071C>T (p.Leu5691Phe)
|
rs767705064
|
0.00002
|
|
NM_182961.4(SYNE1):c.17174C>A (p.Thr5725Asn)
|
rs751747080
|
0.00002
|
|
NM_182961.4(SYNE1):c.17255A>G (p.Gln5752Arg)
|
rs201146113
|
0.00002
|
|
NM_182961.4(SYNE1):c.17274C>A (p.His5758Gln)
|
rs147858920
|
0.00002
|
|
NM_182961.4(SYNE1):c.17389T>C (p.Ser5797Pro)
|
rs753335678
|
0.00002
|
|
NM_182961.4(SYNE1):c.17847T>C (p.Asn5949=)
|
rs755030815
|
0.00002
|
|
NM_182961.4(SYNE1):c.17850+19del
|
rs1362611063
|
0.00002
|
|
NM_182961.4(SYNE1):c.17866C>T (p.Arg5956Cys)
|
rs558631055
|
0.00002
|
|
NM_182961.4(SYNE1):c.18080A>T (p.Glu6027Val)
|
rs780920250
|
0.00002
|
|
NM_182961.4(SYNE1):c.18441T>C (p.Asn6147=)
|
rs558367406
|
0.00002
|
|
NM_182961.4(SYNE1):c.1849C>T (p.Arg617Cys)
|
rs980349048
|
0.00002
|
|
NM_182961.4(SYNE1):c.18507G>A (p.Leu6169=)
|
rs1194007387
|
0.00002
|
|
NM_182961.4(SYNE1):c.18620C>T (p.Thr6207Met)
|
rs373188583
|
0.00002
|
|
NM_182961.4(SYNE1):c.18621G>A (p.Thr6207=)
|
rs754877966
|
0.00002
|
|
NM_182961.4(SYNE1):c.18633C>T (p.Gly6211=)
|
rs755740458
|
0.00002
|
|
NM_182961.4(SYNE1):c.18634G>A (p.Val6212Ile)
|
rs138258566
|
0.00002
|
|
NM_182961.4(SYNE1):c.18972+4T>C
|
rs774096623
|
0.00002
|
|
NM_182961.4(SYNE1):c.19136T>C (p.Leu6379Ser)
|
rs777882357
|
0.00002
|
|
NM_182961.4(SYNE1):c.19276A>C (p.Ile6426Leu)
|
rs773315032
|
0.00002
|
|
NM_182961.4(SYNE1):c.19471-17G>A
|
rs764198291
|
0.00002
|
|
NM_182961.4(SYNE1):c.20607A>G (p.Leu6869=)
|
rs752269968
|
0.00002
|
|
NM_182961.4(SYNE1):c.20712+7A>T
|
rs776363510
|
0.00002
|
|
NM_182961.4(SYNE1):c.20741A>C (p.His6914Pro)
|
rs773155844
|
0.00002
|
|
NM_182961.4(SYNE1):c.20862+17G>A
|
rs755276403
|
0.00002
|
|
NM_182961.4(SYNE1):c.21271A>C (p.Asn7091His)
|
rs777618601
|
0.00002
|
|
NM_182961.4(SYNE1):c.21273C>A (p.Asn7091Lys)
|
rs772396355
|
0.00002
|
|
NM_182961.4(SYNE1):c.21351+6A>G
|
rs760934207
|
0.00002
|
|
NM_182961.4(SYNE1):c.21463C>T (p.Arg7155Ter)
|
rs778445117
|
0.00002
|
|
NM_182961.4(SYNE1):c.21465A>T (p.Arg7155=)
|
rs781552217
|
0.00002
|
|
NM_182961.4(SYNE1):c.21511G>A (p.Asp7171Asn)
|
rs1488536575
|
0.00002
|
|
NM_182961.4(SYNE1):c.22162A>G (p.Thr7388Ala)
|
rs1386701721
|
0.00002
|
|
NM_182961.4(SYNE1):c.22497G>C (p.Leu7499Phe)
|
rs886061196
|
0.00002
|
|
NM_182961.4(SYNE1):c.22558C>T (p.Arg7520Cys)
|
rs755621860
|
0.00002
|
|
NM_182961.4(SYNE1):c.22840T>A (p.Phe7614Ile)
|
rs138581943
|
0.00002
|
|
NM_182961.4(SYNE1):c.2286A>G (p.Gln762=)
|
rs375103550
|
0.00002
|
|
NM_182961.4(SYNE1):c.22978C>T (p.Arg7660Trp)
|
rs202017153
|
0.00002
|
|
NM_182961.4(SYNE1):c.22979G>A (p.Arg7660Gln)
|
rs1461427417
|
0.00002
|
|
NM_182961.4(SYNE1):c.23020-5G>A
|
rs754289166
|
0.00002
|
|
NM_182961.4(SYNE1):c.23102C>T (p.Pro7701Leu)
|
rs780201995
|
0.00002
|
|
NM_182961.4(SYNE1):c.23103G>A (p.Pro7701=)
|
rs752017186
|
0.00002
|
|
NM_182961.4(SYNE1):c.23214C>G (p.Leu7738=)
|
rs543882781
|
0.00002
|
|
NM_182961.4(SYNE1):c.23240T>A (p.Ile7747Asn)
|
rs1435183530
|
0.00002
|
|
NM_182961.4(SYNE1):c.23314C>T (p.Arg7772Trp)
|
rs373935459
|
0.00002
|
|
NM_182961.4(SYNE1):c.23355C>T (p.Phe7785=)
|
rs772418162
|
0.00002
|
|
NM_182961.4(SYNE1):c.23373A>G (p.Glu7791=)
|
rs993468538
|
0.00002
|
|
NM_182961.4(SYNE1):c.23590G>A (p.Asp7864Asn)
|
rs760076679
|
0.00002
|
|
NM_182961.4(SYNE1):c.23707C>T (p.His7903Tyr)
|
rs886042801
|
0.00002
|
|
NM_182961.4(SYNE1):c.23737G>A (p.Val7913Ile)
|
rs528535664
|
0.00002
|
|
NM_182961.4(SYNE1):c.2394+3G>A
|
rs368012666
|
0.00002
|
|
NM_182961.4(SYNE1):c.2394+4C>T
|
rs749262350
|
0.00002
|
|
NM_182961.4(SYNE1):c.23978+11A>T
|
rs754355745
|
0.00002
|
|
NM_182961.4(SYNE1):c.24242T>C (p.Met8081Thr)
|
rs750841362
|
0.00002
|
|
NM_182961.4(SYNE1):c.242G>A (p.Arg81His)
|
rs761189574
|
0.00002
|
|
NM_182961.4(SYNE1):c.24313-8C>T
|
rs201008999
|
0.00002
|
|
NM_182961.4(SYNE1):c.24354C>G (p.Asp8118Glu)
|
rs149940427
|
0.00002
|
|
NM_182961.4(SYNE1):c.24450+9T>C
|
rs746934542
|
0.00002
|
|
NM_182961.4(SYNE1):c.24496A>G (p.Ile8166Val)
|
rs773060979
|
0.00002
|
|
NM_182961.4(SYNE1):c.24556G>A (p.Glu8186Lys)
|
rs200752692
|
0.00002
|
|
NM_182961.4(SYNE1):c.24569A>C (p.Asp8190Ala)
|
rs754128595
|
0.00002
|
|
NM_182961.4(SYNE1):c.24605G>A (p.Arg8202His)
|
rs376102438
|
0.00002
|
|
NM_182961.4(SYNE1):c.24724G>A (p.Asp8242Asn)
|
rs751624606
|
0.00002
|
|
NM_182961.4(SYNE1):c.24955C>T (p.Arg8319Trp)
|
rs201109440
|
0.00002
|
|
NM_182961.4(SYNE1):c.24991C>G (p.Leu8331Val)
|
rs776807564
|
0.00002
|
|
NM_182961.4(SYNE1):c.25046T>C (p.Ile8349Thr)
|
rs927451522
|
0.00002
|
|
NM_182961.4(SYNE1):c.25119+3A>G
|
rs1057521423
|
0.00002
|
|
NM_182961.4(SYNE1):c.25223A>G (p.His8408Arg)
|
rs375476506
|
0.00002
|
|
NM_182961.4(SYNE1):c.25246+17C>T
|
rs772625869
|
0.00002
|
|
NM_182961.4(SYNE1):c.2530G>A (p.Glu844Lys)
|
rs770166877
|
0.00002
|
|
NM_182961.4(SYNE1):c.2543G>C (p.Ser848Thr)
|
rs770713708
|
0.00002
|
|
NM_182961.4(SYNE1):c.25460A>T (p.Glu8487Val)
|
rs775455354
|
0.00002
|
|
NM_182961.4(SYNE1):c.25515C>T (p.Cys8505=)
|
rs144459490
|
0.00002
|
|
NM_182961.4(SYNE1):c.25629C>T (p.Gly8543=)
|
rs201344762
|
0.00002
|
|
NM_182961.4(SYNE1):c.26213del (p.Arg8738fs)
|
rs774317818
|
0.00002
|
|
NM_182961.4(SYNE1):c.26278G>A (p.Gly8760Arg)
|
rs758464869
|
0.00002
|
|
NM_182961.4(SYNE1):c.2731A>G (p.Met911Val)
|
rs1310685451
|
0.00002
|
|
NM_182961.4(SYNE1):c.275T>C (p.Ile92Thr)
|
rs1007703591
|
0.00002
|
|
NM_182961.4(SYNE1):c.2892+8C>T
|
rs374408461
|
0.00002
|
|
NM_182961.4(SYNE1):c.2T>C (p.Met1Thr)
|
rs769726483
|
0.00002
|
|
NM_182961.4(SYNE1):c.3465C>T (p.Ile1155=)
|
rs770210620
|
0.00002
|
|
NM_182961.4(SYNE1):c.3473C>T (p.Ala1158Val)
|
rs746060505
|
0.00002
|
|
NM_182961.4(SYNE1):c.3657G>A (p.Thr1219=)
|
rs756713928
|
0.00002
|
|
NM_182961.4(SYNE1):c.3736G>A (p.Glu1246Lys)
|
rs138915528
|
0.00002
|
|
NM_182961.4(SYNE1):c.3837+8T>C
|
rs377391406
|
0.00002
|
|
NM_182961.4(SYNE1):c.4008+16T>C
|
rs763851876
|
0.00002
|
|
NM_182961.4(SYNE1):c.4032A>G (p.Arg1344=)
|
rs762887399
|
0.00002
|
|
NM_182961.4(SYNE1):c.4059A>G (p.Val1353=)
|
rs769854299
|
0.00002
|
|
NM_182961.4(SYNE1):c.4299G>A (p.Thr1433=)
|
rs528090478
|
0.00002
|
|
NM_182961.4(SYNE1):c.4461+14A>T
|
rs554281097
|
0.00002
|
|
NM_182961.4(SYNE1):c.4487A>G (p.Lys1496Arg)
|
rs146300279
|
0.00002
|
|
NM_182961.4(SYNE1):c.4668G>C (p.Lys1556Asn)
|
rs774194598
|
0.00002
|
|
NM_182961.4(SYNE1):c.4821C>T (p.Ser1607=)
|
rs754445939
|
0.00002
|
|
NM_182961.4(SYNE1):c.4908C>T (p.Tyr1636=)
|
rs771955377
|
0.00002
|
|
NM_182961.4(SYNE1):c.5018G>A (p.Arg1673Gln)
|
rs749115727
|
0.00002
|
|
NM_182961.4(SYNE1):c.5710T>A (p.Leu1904Met)
|
rs372724272
|
0.00002
|
|
NM_182961.4(SYNE1):c.5780A>G (p.Asp1927Gly)
|
rs144732736
|
0.00002
|
|
NM_182961.4(SYNE1):c.581+10_581+11del
|
rs1429057946
|
0.00002
|
|
NM_182961.4(SYNE1):c.582-6A>G
|
rs199728167
|
0.00002
|
|
NM_182961.4(SYNE1):c.5872G>A (p.Glu1958Lys)
|
rs1563856215
|
0.00002
|
|
NM_182961.4(SYNE1):c.6117A>C (p.Lys2039Asn)
|
rs1449605743
|
0.00002
|
|
NM_182961.4(SYNE1):c.6136G>T (p.Ala2046Ser)
|
rs200432574
|
0.00002
|
|
NM_182961.4(SYNE1):c.6281T>A (p.Leu2094Gln)
|
rs201747340
|
0.00002
|
|
NM_182961.4(SYNE1):c.6319A>G (p.Ser2107Gly)
|
rs368938119
|
0.00002
|
|
NM_182961.4(SYNE1):c.6431A>G (p.Asn2144Ser)
|
rs28447480
|
0.00002
|
|
NM_182961.4(SYNE1):c.6550A>G (p.Lys2184Glu)
|
rs765343767
|
0.00002
|
|
NM_182961.4(SYNE1):c.68A>G (p.Asp23Gly)
|
rs370851746
|
0.00002
|
|
NM_182961.4(SYNE1):c.6933G>A (p.Lys2311=)
|
rs375127604
|
0.00002
|
|
NM_182961.4(SYNE1):c.7103G>A (p.Arg2368His)
|
rs755821648
|
0.00002
|
|
NM_182961.4(SYNE1):c.7174G>A (p.Val2392Met)
|
rs146099481
|
0.00002
|
|
NM_182961.4(SYNE1):c.7279G>A (p.Ala2427Thr)
|
rs763152677
|
0.00002
|
|
NM_182961.4(SYNE1):c.7303C>T (p.Arg2435Cys)
|
rs370082646
|
0.00002
|
|
NM_182961.4(SYNE1):c.7340A>G (p.His2447Arg)
|
rs527670014
|
0.00002
|
|
NM_182961.4(SYNE1):c.7444G>A (p.Val2482Ile)
|
rs375687383
|
0.00002
|
|
NM_182961.4(SYNE1):c.7610G>A (p.Arg2537Lys)
|
rs762448241
|
0.00002
|
|
NM_182961.4(SYNE1):c.7768G>A (p.Gly2590Ser)
|
rs367840064
|
0.00002
|
|
NM_182961.4(SYNE1):c.7988G>T (p.Arg2663Leu)
|
rs370644295
|
0.00002
|
|
NM_182961.4(SYNE1):c.8335A>G (p.Ile2779Val)
|
rs746384150
|
0.00002
|
|
NM_182961.4(SYNE1):c.8373C>T (p.His2791=)
|
rs1465961867
|
0.00002
|
|
NM_182961.4(SYNE1):c.8392A>G (p.Arg2798Gly)
|
rs886044262
|
0.00002
|
|
NM_182961.4(SYNE1):c.8468A>G (p.Asp2823Gly)
|
rs545685387
|
0.00002
|
|
NM_182961.4(SYNE1):c.8562T>C (p.Asp2854=)
|
rs757737346
|
0.00002
|
|
NM_182961.4(SYNE1):c.8568C>G (p.Leu2856=)
|
rs143105336
|
0.00002
|
|
NM_182961.4(SYNE1):c.860A>G (p.Asn287Ser)
|
rs781096163
|
0.00002
|
|
NM_182961.4(SYNE1):c.8705C>T (p.Ser2902Leu)
|
rs576979843
|
0.00002
|
|
NM_182961.4(SYNE1):c.8784C>T (p.Ala2928=)
|
rs759200516
|
0.00002
|
|
NM_182961.4(SYNE1):c.8861C>T (p.Ser2954Leu)
|
rs145819043
|
0.00002
|
|
NM_182961.4(SYNE1):c.91C>T (p.Arg31Ter)
|
rs199708211
|
0.00002
|
|
NM_182961.4(SYNE1):c.9630G>A (p.Arg3210=)
|
rs757280513
|
0.00002
|
|
NM_182961.4(SYNE1):c.9779A>G (p.Gln3260Arg)
|
rs555197359
|
0.00002
|
|
NM_182961.4(SYNE1):c.9788C>T (p.Ala3263Val)
|
rs780460827
|
0.00002
|
|
NM_182961.4(SYNE1):c.9835G>A (p.Val3279Ile)
|
rs762807112
|
0.00002
|
|
NM_182961.4(SYNE1):c.9847A>C (p.Asn3283His)
|
rs745707616
|
0.00002
|
|
NM_182961.4(SYNE1):c.9953G>A (p.Ser3318Asn)
|
rs746689638
|
0.00002
|
|
NM_182961.4(SYNE1):c.9960G>A (p.Thr3320=)
|
rs747731841
|
0.00002
|
|
NM_182961.4(SYNE1):c.9973-16G>C
|
rs1200216933
|
0.00002
|
|
NM_000784.4(CYP27A1):c.1017+14G>A
|
rs1196582375
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1017+1G>A
|
rs1943742261
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1017+4C>T
|
rs763008570
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1059G>T (p.Lys353Asn)
|
rs372343607
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1075G>C (p.Glu359Gln)
|
rs760471205
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1086C>T (p.His362=)
|
rs139426361
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1101T>G (p.Gly367=)
|
rs752360378
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1125C>G (p.Pro375=)
|
rs202049251
|
0.00001
|
|
NM_000784.4(CYP27A1):c.113A>T (p.Asp38Val)
|
rs1201499588
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1162G>A (p.Ala388Thr)
|
rs1201958431
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1175A>C (p.Glu392Ala)
|
rs1245201394
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1181T>C (p.Leu394Pro)
|
rs1406298698
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1185-13C>A
|
rs772157208
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1185-16A>G
|
rs779178036
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1185-1G>A
|
rs587778779
|
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.1254C>T (p.Phe418=)
|
rs779041544
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1263+10G>A
|
rs775546941
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1263+19C>A
|
rs377513951
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1263+2T>C
|
rs777935791
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1263+5G>T
|
rs587778784
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1263C>T (p.Asn421=)
|
rs748358246
|
0.00001
|
|
NM_000784.4(CYP27A1):c.126A>G (p.Gly42=)
|
rs1238340088
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1309G>T (p.Ala437Ser)
|
rs1337764272
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1311C>T (p.Ala437=)
|
rs886044581
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1317T>G (p.Ser439=)
|
rs1943767251
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1334A>G (p.Gln445Arg)
|
rs765660985
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1342C>T (p.Arg448Cys)
|
rs730882199
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1349T>C (p.Leu450Pro)
|
rs1480110004
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1369A>G (p.Thr457Ala)
|
rs373870129
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1374C>A (p.Pro458=)
|
rs55998945
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1375A>C (p.Arg459=)
|
rs755008787
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1407T>C (p.Phe469=)
|
rs1423547583
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1415G>C (p.Gly472Ala)
|
rs200883871
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp)
|
rs121908098
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1477-18G>A
|
rs886703307
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1477-5C>A
|
rs890298373
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1477-8C>T
|
rs1461082000
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1488G>A (p.Lys496=)
|
rs1379650960
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1503G>A (p.Leu501=)
|
rs1336081746
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1515G>A (p.Thr505=)
|
rs886656814
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1520A>T (p.Glu507Val)
|
rs767162764
|
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.1553C>G (p.Pro518Arg)
|
rs143844199
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1557T>C (p.Asn519=)
|
rs1375435703
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1573C>A (p.Gln525Lys)
|
rs374507635
|
0.00001
|
|
NM_000784.4(CYP27A1):c.158G>T (p.Arg53Leu)
|
rs376993392
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1590G>A (p.Gln530=)
|
rs1943775029
|
0.00001
|
|
NM_000784.4(CYP27A1):c.1591del (p.Cys531fs)
|
rs755723759
|
0.00001
|
|
NM_000784.4(CYP27A1):c.192A>G (p.Gly64=)
|
rs1366418494
|
0.00001
|
|
NM_000784.4(CYP27A1):c.203T>G (p.Phe68Cys)
|
rs587780327
|
0.00001
|
|
NM_000784.4(CYP27A1):c.214C>T (p.Leu72=)
|
rs747003400
|
0.00001
|
|
NM_000784.4(CYP27A1):c.255+8G>A
|
rs774689564
|
0.00001
|
|
NM_000784.4(CYP27A1):c.255+9C>T
|
rs762433789
|
0.00001
|
|
NM_000784.4(CYP27A1):c.256-3C>T
|
rs1559391389
|
0.00001
|
|
NM_000784.4(CYP27A1):c.256-8C>A
|
rs1416013036
|
0.00001
|
|
NM_000784.4(CYP27A1):c.273G>A (p.Lys91=)
|
rs1559391394
|
0.00001
|
|
NM_000784.4(CYP27A1):c.294C>T (p.Ser98=)
|
rs1696186258
|
0.00001
|
|
NM_000784.4(CYP27A1):c.2T>C (p.Met1Thr)
|
rs759003992
|
0.00001
|
|
NM_000784.4(CYP27A1):c.32G>A (p.Trp11Ter)
|
rs1398584213
|
0.00001
|
|
NM_000784.4(CYP27A1):c.335C>T (p.Pro112Leu)
|
rs531504325
|
0.00001
|
|
NM_000784.4(CYP27A1):c.336G>A (p.Pro112=)
|
rs1413155008
|
0.00001
|
|
NM_000784.4(CYP27A1):c.33G>A (p.Trp11Ter)
|
rs1319938730
|
0.00001
|
|
NM_000784.4(CYP27A1):c.343G>C (p.Glu115Gln)
|
rs1298533109
|
0.00001
|
|
NM_000784.4(CYP27A1):c.38T>C (p.Leu13Pro)
|
rs1243753558
|
0.00001
|
|
NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp)
|
rs72551312
|
0.00001
|
|
NM_000784.4(CYP27A1):c.416A>G (p.Gln139Arg)
|
rs1253807962
|
0.00001
|
|
NM_000784.4(CYP27A1):c.432T>C (p.Tyr144=)
|
rs1553616026
|
0.00001
|
|
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=)
|
rs587778796
|
0.00001
|
|
NM_000784.4(CYP27A1):c.443C>G (p.Thr148Ser)
|
rs1404621754
|
0.00001
|
|
NM_000784.4(CYP27A1):c.446+15G>A
|
rs775813515
|
0.00001
|
|
NM_000784.4(CYP27A1):c.446+1G>A
|
rs587778797
|
0.00001
|
|
NM_000784.4(CYP27A1):c.447-7C>T
|
rs746321278
|
0.00001
|
|
NM_000784.4(CYP27A1):c.45G>A (p.Gly15=)
|
rs988463082
|
0.00001
|
|
NM_000784.4(CYP27A1):c.475C>T (p.Gln159Ter)
|
rs72551314
|
0.00001
|
|
NM_000784.4(CYP27A1):c.484A>C (p.Asn162His)
|
rs1235744900
|
0.00001
|
|
NM_000784.4(CYP27A1):c.516G>A (p.Ala172=)
|
rs749708223
|
0.00001
|
|
NM_000784.4(CYP27A1):c.527A>G (p.Asp176Gly)
|
rs748325824
|
0.00001
|
|
NM_000784.4(CYP27A1):c.56G>T (p.Gly19Val)
|
rs1203579586
|
0.00001
|
|
NM_000784.4(CYP27A1):c.577C>T (p.Arg193Trp)
|
rs1045858420
|
0.00001
|
|
NM_000784.4(CYP27A1):c.587G>T (p.Ser196Ile)
|
rs375643077
|
0.00001
|
|
NM_000784.4(CYP27A1):c.62G>A (p.Cys21Tyr)
|
rs757653354
|
0.00001
|
|
NM_000784.4(CYP27A1):c.646G>C (p.Ala216Pro)
|
rs201346271
|
0.00001
|
|
NM_000784.4(CYP27A1):c.654C>T (p.Cys218=)
|
rs1943729887
|
0.00001
|
|
NM_000784.4(CYP27A1):c.667G>A (p.Glu223Lys)
|
rs760323157
|
0.00001
|
|
NM_000784.4(CYP27A1):c.681C>T (p.Gly227=)
|
rs1182190234
|
0.00001
|
|
NM_000784.4(CYP27A1):c.68A>C (p.His23Pro)
|
rs1943398664
|
0.00001
|
|
NM_000784.4(CYP27A1):c.691C>T (p.Arg231Ter)
|
rs72551315
|
0.00001
|
|
NM_000784.4(CYP27A1):c.693A>G (p.Arg231=)
|
rs1187804477
|
0.00001
|
|
NM_000784.4(CYP27A1):c.699C>A (p.Ile233=)
|
rs1178297854
|
0.00001
|
|
NM_000784.4(CYP27A1):c.69C>T (p.His23=)
|
rs1444634924
|
0.00001
|
|
NM_000784.4(CYP27A1):c.705G>A (p.Glu235=)
|
rs1943733748
|
0.00001
|
|
NM_000784.4(CYP27A1):c.720C>T (p.Phe240=)
|
rs748075933
|
0.00001
|
|
NM_000784.4(CYP27A1):c.732C>T (p.Ile244=)
|
rs1224145759
|
0.00001
|
|
NM_000784.4(CYP27A1):c.733G>A (p.Gly245Arg)
|
rs746666035
|
0.00001
|
|
NM_000784.4(CYP27A1):c.745C>T (p.Gln249Ter)
|
rs72551316
|
0.00001
|
|
NM_000784.4(CYP27A1):c.776A>G (p.Lys259Arg)
|
rs72551317
|
0.00001
|
|
NM_000784.4(CYP27A1):c.77G>A (p.Arg26Lys)
|
rs192494481
|
0.00001
|
|
NM_000784.4(CYP27A1):c.781A>G (p.Thr261Ala)
|
rs1271066819
|
0.00001
|
|
NM_000784.4(CYP27A1):c.788C>G (p.Pro263Arg)
|
rs1274003022
|
0.00001
|
|
NM_000784.4(CYP27A1):c.845-3C>T
|
rs768674577
|
0.00001
|
|
NM_000784.4(CYP27A1):c.84G>C (p.Lys28Asn)
|
rs958713867
|
0.00001
|
|
NM_000784.4(CYP27A1):c.866A>C (p.Lys289Thr)
|
rs371056722
|
0.00001
|
|
NM_000784.4(CYP27A1):c.882G>A (p.Glu294=)
|
rs59428328
|
0.00001
|
|
NM_000784.4(CYP27A1):c.883G>C (p.Ala295Pro)
|
rs371133296
|
0.00001
|
|
NM_000784.4(CYP27A1):c.968G>A (p.Arg323Gln)
|
rs769640126
|
0.00001
|
|
NM_000784.4(CYP27A1):c.990T>C (p.Pro330=)
|
rs1227319154
|
0.00001
|
|
NM_001044385.3(TMEM237):c.101C>T (p.Pro34Leu)
|
rs1559590115
|
0.00001
|
|
NM_001044385.3(TMEM237):c.1038-6T>G
|
rs758523904
|
0.00001
|
|
NM_001044385.3(TMEM237):c.1135A>T (p.Arg379Trp)
|
rs747158935
|
0.00001
|
|
NM_001044385.3(TMEM237):c.1144A>G (p.Met382Val)
|
rs1437714395
|
0.00001
|
|
NM_001044385.3(TMEM237):c.114G>A (p.Lys38=)
|
rs770907860
|
0.00001
|
|
NM_001044385.3(TMEM237):c.1159+20G>A
|
rs1162670210
|
0.00001
|
|
NM_001044385.3(TMEM237):c.1183G>A (p.Glu395Lys)
|
rs373445814
|
0.00001
|
|
NM_001044385.3(TMEM237):c.1212C>T (p.Ile404=)
|
rs1317494328
|
0.00001
|
|
NM_001044385.3(TMEM237):c.136+17T>C
|
rs1461794959
|
0.00001
|
|
NM_001044385.3(TMEM237):c.136+1G>T
|
rs778823927
|
0.00001
|
|
NM_001044385.3(TMEM237):c.136+7C>T
|
rs768764111
|
0.00001
|
|
NM_001044385.3(TMEM237):c.231G>T (p.Glu77Asp)
|
rs779250127
|
0.00001
|
|
NM_001044385.3(TMEM237):c.278T>A (p.Leu93Ter)
|
rs1687223389
|
0.00001
|
|
NM_001044385.3(TMEM237):c.317C>G (p.Ser106Cys)
|
rs1186656902
|
0.00001
|
|
NM_001044385.3(TMEM237):c.347C>T (p.Ala116Val)
|
rs759392151
|
0.00001
|
|
NM_001044385.3(TMEM237):c.365C>T (p.Ala122Val)
|
rs772680401
|
0.00001
|
|
NM_001044385.3(TMEM237):c.42+15G>A
|
rs1461749315
|
0.00001
|
|
NM_001044385.3(TMEM237):c.428A>G (p.Asn143Ser)
|
rs750312169
|
0.00001
|
|
NM_001044385.3(TMEM237):c.43-6C>T
|
rs886974025
|
0.00001
|
|
NM_001044385.3(TMEM237):c.437G>C (p.Gly146Ala)
|
rs184256195
|
0.00001
|
|
NM_001044385.3(TMEM237):c.454A>C (p.Ile152Leu)
|
rs771052304
|
0.00001
|
|
NM_001044385.3(TMEM237):c.469C>A (p.Gln157Lys)
|
rs762678333
|
0.00001
|
|
NM_001044385.3(TMEM237):c.471A>G (p.Gln157=)
|
rs1466574515
|
0.00001
|
|
NM_001044385.3(TMEM237):c.553C>A (p.Arg185=)
|
rs754056989
|
0.00001
|
|
NM_001044385.3(TMEM237):c.575G>A (p.Arg192His)
|
rs186216206
|
0.00001
|
|
NM_001044385.3(TMEM237):c.59T>C (p.Leu20Pro)
|
rs373956551
|
0.00001
|
|
NM_001044385.3(TMEM237):c.617T>C (p.Met206Thr)
|
rs773685442
|
0.00001
|
|
NM_001044385.3(TMEM237):c.665A>G (p.His222Arg)
|
rs749330370
|
0.00001
|
|
NM_001044385.3(TMEM237):c.668G>A (p.Arg223Gln)
|
rs770053080
|
0.00001
|
|
NM_001044385.3(TMEM237):c.677+1G>A
|
rs793888505
|
0.00001
|
|
NM_001044385.3(TMEM237):c.714C>G (p.Gly238=)
|
rs370681829
|
0.00001
|
|
NM_001044385.3(TMEM237):c.716G>C (p.Cys239Ser)
|
rs769694232
|
0.00001
|
|
NM_001044385.3(TMEM237):c.721G>A (p.Val241Met)
|
rs759814109
|
0.00001
|
|
NM_001044385.3(TMEM237):c.736G>A (p.Val246Met)
|
rs886055448
|
0.00001
|
|
NM_001044385.3(TMEM237):c.807G>A (p.Ala269=)
|
rs763452347
|
0.00001
|
|
NM_001044385.3(TMEM237):c.869+5T>C
|
rs530769303
|
0.00001
|
|
NM_001044385.3(TMEM237):c.878T>G (p.Phe293Cys)
|
rs1209527419
|
0.00001
|
|
NM_001044385.3(TMEM237):c.902G>A (p.Arg301Gln)
|
rs745540263
|
0.00001
|
|
NM_001044385.3(TMEM237):c.943+5G>A
|
rs779322966
|
0.00001
|
|
NM_001044385.3(TMEM237):c.98G>A (p.Arg33His)
|
rs576586379
|
0.00001
|
|
NM_001077418.2(TMEM231):c.-44C>A
|
rs1419518232
|
0.00001
|
|
NM_001077418.3(TMEM231):c.-12C>G
|
rs745498623
|
0.00001
|
|
NM_001077418.3(TMEM231):c.11A>G (p.Tyr4Cys)
|
rs1597051521
|
0.00001
|
|
NM_001077418.3(TMEM231):c.130C>T (p.Arg44Trp)
|
rs750674092
|
0.00001
|
|
NM_001077418.3(TMEM231):c.139+23G>A
|
rs770598456
|
0.00001
|
|
NM_001077418.3(TMEM231):c.139+24C>T
|
rs746632596
|
0.00001
|
|
NM_001077418.3(TMEM231):c.139+25C>T
|
rs1474874368
|
0.00001
|
|
NM_001077418.3(TMEM231):c.139+39G>T
|
rs1448302846
|
0.00001
|
|
NM_001077418.3(TMEM231):c.225C>G (p.Pro75=)
|
rs1444231443
|
0.00001
|
|
NM_001077418.3(TMEM231):c.235G>C (p.Gly79Arg)
|
rs766492182
|
0.00001
|
|
NM_001077418.3(TMEM231):c.263C>T (p.Ala88Val)
|
rs1309156955
|
0.00001
|
|
NM_001077418.3(TMEM231):c.322G>A (p.Asp108Asn)
|
rs759954710
|
0.00001
|
|
NM_001077418.3(TMEM231):c.356A>G (p.His119Arg)
|
rs1255071095
|
0.00001
|
|
NM_001077418.3(TMEM231):c.380A>C (p.Gln127Pro)
|
rs1202833405
|
0.00001
|
|
NM_001077418.3(TMEM231):c.446C>T (p.Ala149Val)
|
rs750935858
|
0.00001
|
|
NM_001077418.3(TMEM231):c.488T>C (p.Phe163Ser)
|
rs566395744
|
0.00001
|
|
NM_001077418.3(TMEM231):c.490C>T (p.Pro164Ser)
|
rs778407563
|
0.00001
|
|
NM_001077418.3(TMEM231):c.513C>T (p.Tyr171=)
|
rs751631216
|
0.00001
|
|
NM_001077418.3(TMEM231):c.520G>A (p.Gly174Arg)
|
rs763194213
|
0.00001
|
|
NM_001077418.3(TMEM231):c.549G>A (p.Pro183=)
|
rs748111030
|
0.00001
|
|
NM_001077418.3(TMEM231):c.574C>T (p.Arg192Ter)
|
rs543122080
|
0.00001
|
|
NM_001077418.3(TMEM231):c.582+1G>A
|
rs752141701
|
0.00001
|
|
NM_001077418.3(TMEM231):c.583-10C>T
|
rs774265542
|
0.00001
|
|
NM_001077418.3(TMEM231):c.589G>A (p.Val197Met)
|
rs745485432
|
0.00001
|
|
NM_001077418.3(TMEM231):c.597C>T (p.Asn199=)
|
rs959165450
|
0.00001
|
|
NM_001077418.3(TMEM231):c.665-3C>T
|
rs780063686
|
0.00001
|
|
NM_001077418.3(TMEM231):c.673G>A (p.Val225Ile)
|
rs746055228
|
0.00001
|
|
NM_001077418.3(TMEM231):c.714C>T (p.Ala238=)
|
rs750043051
|
0.00001
|
|
NM_001077418.3(TMEM231):c.727T>C (p.Phe243Leu)
|
rs746025189
|
0.00001
|
|
NM_001077418.3(TMEM231):c.72G>C (p.Ala24=)
|
rs746685376
|
0.00001
|
|
NM_001077418.3(TMEM231):c.755C>T (p.Pro252Leu)
|
rs1230743826
|
0.00001
|
|
NM_001077418.3(TMEM231):c.770+18G>T
|
rs1413880610
|
0.00001
|
|
NM_001077418.3(TMEM231):c.771-6C>A
|
rs1160382019
|
0.00001
|
|
NM_001077418.3(TMEM231):c.898A>G (p.Ile300Val)
|
rs768632156
|
0.00001
|
|
NM_001077418.3(TMEM231):c.915G>A (p.Thr305=)
|
rs759314500
|
0.00001
|
|
NM_001077418.3(TMEM231):c.920G>A (p.Arg307Gln)
|
rs746970206
|
0.00001
|
|
NM_001077418.3(TMEM231):c.99C>T (p.Leu33=)
|
rs1435643293
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.*10G>A
|
rs1280881561
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.*24del
|
rs775748329
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.1007C>G (p.Ser336Cys)
|
rs781781110
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.103T>A (p.Leu35Met)
|
rs769423672
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.1045G>A (p.Val349Ile)
|
rs771000156
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.1048_1049insACA (p.Pro350delinsHisThr)
|
rs1406399353
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.1059G>A (p.Arg353=)
|
rs1283583747
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.1078A>T (p.Arg360Trp)
|
rs932782936
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.1206C>T (p.Thr402=)
|
rs779005063
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.1253+4A>G
|
rs1182604650
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.1254-7C>T
|
rs371116548
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.1323C>T (p.Asp441=)
|
rs574658488
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.1341A>G (p.Lys447=)
|
rs755857778
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.1362+12A>G
|
rs374756414
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.1363-18G>A
|
rs767847589
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.1396G>A (p.Asp466Asn)
|
rs757196467
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.1414G>A (p.Val472Ile)
|
rs779792778
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.1516G>A (p.Glu506Lys)
|
rs746704306
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.1528C>T (p.Arg510Cys)
|
rs778123212
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.154C>T (p.Arg52Cys)
|
rs1445118511
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.1557G>A (p.Ser519=)
|
rs527483829
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.155G>A (p.Arg52His)
|
rs753917457
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.1568C>T (p.Ala523Val)
|
rs556274091
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.1574C>G (p.Ser525Cys)
|
rs1173352052
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.1588A>T (p.Met530Leu)
|
rs747120591
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.1656+11G>A
|
rs2040060841
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.1656G>A (p.Gln552=)
|
rs762081862
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.1676A>G (p.Asp559Gly)
|
rs1020004939
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.1738A>G (p.Lys580Glu)
|
rs1297075839
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.1745T>C (p.Ile582Thr)
|
rs1039498791
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.1791A>G (p.Pro597=)
|
rs1202169940
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.1885-2A>G
|
rs1431898844
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.1918G>A (p.Glu640Lys)
|
rs1595193868
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.1967G>A (p.Arg656Gln)
|
rs1047721846
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.199+6T>A
|
rs764690540
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.200-15C>T
|
rs764593812
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.2010A>G (p.Pro670=)
|
rs185266107
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.201T>C (p.Gly67=)
|
rs750714192
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.2028A>G (p.Pro676=)
|
rs559438142
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.2050C>T (p.Arg684Ter)
|
rs749475936
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.2051G>A (p.Arg684Gln)
|
rs547990270
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.2092G>T (p.Asp698Tyr)
|
rs371583234
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.2104A>G (p.Thr702Ala)
|
rs558410911
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.2119A>G (p.Met707Val)
|
rs1200934389
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.2123A>G (p.Asp708Gly)
|
rs373601253
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.2228A>T (p.His743Leu)
|
rs1190897774
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.2255-11A>G
|
rs752712583
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.2295A>C (p.Gly765=)
|
rs200937470
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.2402T>A (p.Met801Lys)
|
rs1267499182
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.2417A>G (p.Lys806Arg)
|
rs773759282
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.2418G>C (p.Lys806Asn)
|
rs922088604
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.245T>C (p.Leu82Ser)
|
rs955530356
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.2504_2508del (p.Leu835fs)
|
rs1410766981
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.2505G>C (p.Leu835=)
|
rs751246498
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.2511C>A (p.Ser837Arg)
|
rs377409718
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.2533C>T (p.Pro845Ser)
|
rs377023593
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.2629A>C (p.Ile877Leu)
|
rs1338718674
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.2634+20A>G
|
rs546773198
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.2635-17G>T
|
rs1478236874
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.2654A>G (p.Glu885Gly)
|
rs770688785
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.2719A>G (p.Asn907Asp)
|
rs1261333772
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.2728C>T (p.Pro910Ser)
|
rs752882356
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.2804T>A (p.Leu935Gln)
|
rs537951340
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.2822A>T (p.Gln941Leu)
|
rs768032063
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.2823A>G (p.Gln941=)
|
rs776447854
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.285C>T (p.Asp95=)
|
rs527601211
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.2862G>A (p.Gly954=)
|
rs746874985
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.2866T>C (p.Phe956Leu)
|
rs943207254
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.2908G>A (p.Val970Ile)
|
rs368808852
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.2912G>A (p.Ser971Asn)
|
rs3783696
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.2938G>C (p.Asp980His)
|
rs754818478
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.2944+4A>C
|
rs372841738
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.2947G>A (p.Glu983Lys)
|
rs563109987
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.3097dup (p.Ala1033fs)
|
rs1364954371
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.3143C>T (p.Pro1048Leu)
|
rs369859399
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.3170C>T (p.Thr1057Ile)
|
rs772489368
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.3205C>T (p.Pro1069Ser)
|
rs766060506
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.3246T>G (p.Ser1082=)
|
rs779554669
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.3247C>T (p.Pro1083Ser)
|
rs373431045
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.3304+19T>A
|
rs759164063
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.3325A>G (p.Met1109Val)
|
rs773159825
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.3350C>A (p.Thr1117Asn)
|
rs758962196
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.3375G>A (p.Ala1125=)
|
rs765655962
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.3391C>T (p.Pro1131Ser)
|
rs1413013409
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.340+7G>T
|
rs763185199
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.3404A>G (p.Asp1135Gly)
|
rs751729993
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.3422T>C (p.Leu1141Ser)
|
rs755937342
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.3450G>C (p.Lys1150Asn)
|
rs199517530
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.3515A>T (p.His1172Leu)
|
rs1190269049
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.3527+12C>T
|
rs1369279718
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.3542C>G (p.Ala1181Gly)
|
rs910865335
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.3594A>G (p.Pro1198=)
|
rs764114899
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.3599C>T (p.Pro1200Leu)
|
rs539304161
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.3633G>A (p.Lys1211=)
|
rs780785984
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.3679G>C (p.Glu1227Gln)
|
rs560315226
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.3687A>G (p.Thr1229=)
|
rs773464253
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.3696T>C (p.Val1232=)
|
rs1480788246
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.3700del (p.Val1234fs)
|
rs1253807820
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.3715A>G (p.Thr1239Ala)
|
rs201889432
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.3717T>G (p.Thr1239=)
|
rs758690971
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.3750A>G (p.Leu1250=)
|
rs1222178512
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.3781+2T>C
|
rs1331480187
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.3791A>T (p.Asp1264Val)
|
rs1223415414
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.3797G>C (p.Gly1266Ala)
|
rs1256817386
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.3816T>C (p.Leu1272=)
|
rs755315601
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.3819T>C (p.Asn1273=)
|
rs970331206
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.3857T>C (p.Met1286Thr)
|
rs1256644781
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.3858+8A>G
|
rs370569855
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.3884A>G (p.Gln1295Arg)
|
rs1019828731
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.3885A>C (p.Gln1295His)
|
rs779179754
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.3910T>A (p.Phe1304Ile)
|
rs1441855459
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.3914A>T (p.His1305Leu)
|
rs966912655
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.3935T>C (p.Phe1312Ser)
|
rs912168236
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.3948C>T (p.Asn1316=)
|
rs1437021057
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.3G>A (p.Met1Ile)
|
rs775143643
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.4035C>T (p.Pro1345=)
|
rs757412652
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.4060A>G (p.Ile1354Val)
|
rs1446993944
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.4067T>C (p.Met1356Thr)
|
rs1188851321
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.4094C>T (p.Pro1365Leu)
|
rs752429234
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.411-1389C>T
|
rs1490162703
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.4137A>G (p.Lys1379=)
|
rs372138430
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.4147C>T (p.Arg1383Trp)
|
rs1015444951
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.4185T>C (p.Asp1395=)
|
rs2044165528
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.419G>A (p.Ser140Asn)
|
rs754191741
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.420C>T (p.Ser140=)
|
rs900262881
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.4324-2A>G
|
rs763815640
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.4495+3777del
|
rs1237632090
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.4495+3778T>C
|
rs1022389517
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.4495+3785A>T
|
rs942756021
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.4495+3802G>A
|
rs541632685
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.4496-3808A>C
|
rs181384924
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.4512A>G (p.Pro1504=)
|
rs1476732636
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.4572C>T (p.Leu1524=)
|
rs371910625
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.4628C>T (p.Ser1543Leu)
|
rs767347007
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.484G>A (p.Val162Ile)
|
rs540188519
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.52G>A (p.Val18Met)
|
rs1260723288
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.556G>C (p.Ala186Pro)
|
rs758886732
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.592A>C (p.Ser198Arg)
|
rs375374719
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.668G>A (p.Arg223His)
|
rs779062959
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.70G>T (p.Val24Leu)
|
rs780198735
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.726T>C (p.Asp242=)
|
rs1019648840
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.808-14C>G
|
rs765153409
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.848A>G (p.Gln283Arg)
|
rs772425621
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.868T>G (p.Ser290Ala)
|
rs1372486181
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.881A>G (p.Glu294Gly)
|
rs765495285
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.888T>C (p.Tyr296=)
|
rs541197914
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.891C>T (p.Ser297=)
|
rs1424135868
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.892G>A (p.Val298Ile)
|
rs751564059
|
0.00001
|
|
NM_001329943.3(KIAA0586):c.956A>G (p.Lys319Arg)
|
rs1297972335
|
0.00001
|
|
NM_001347702.2(SYNE1):c.1447A>T (p.Met483Leu)
|
rs372305836
|
0.00001
|
|
NM_001378969.1(KCND3):c.1146C>A (p.Ile382=)
|
rs185723423
|
0.00001
|
|
NM_001378969.1(KCND3):c.1277G>A (p.Arg426His)
|
rs760274429
|
0.00001
|
|
NM_001378969.1(KCND3):c.1313C>G (p.Ser438Trp)
|
rs1172444288
|
0.00001
|
|
NM_001378969.1(KCND3):c.1359G>A (p.Ala453=)
|
rs762936059
|
0.00001
|
|
NM_001378969.1(KCND3):c.1362G>A (p.Leu454=)
|
rs765815341
|
0.00001
|
|
NM_001378969.1(KCND3):c.1372-6T>C
|
rs765435324
|
0.00001
|
|
NM_001378969.1(KCND3):c.1393A>G (p.Met465Val)
|
rs1245864814
|
0.00001
|
|
NM_001378969.1(KCND3):c.1427A>G (p.His476Arg)
|
rs1571626155
|
0.00001
|
|
NM_001378969.1(KCND3):c.1462-13T>C
|
rs766769240
|
0.00001
|
|
NM_001378969.1(KCND3):c.1478T>G (p.Val493Gly)
|
rs1216457569
|
0.00001
|
|
NM_001378969.1(KCND3):c.1492T>C (p.Leu498=)
|
rs762528364
|
0.00001
|
|
NM_001378969.1(KCND3):c.1518+18T>C
|
rs377356478
|
0.00001
|
|
NM_001378969.1(KCND3):c.1525G>A (p.Glu509Lys)
|
rs760468985
|
0.00001
|
|
NM_001378969.1(KCND3):c.1634C>T (p.Thr545Ile)
|
rs969494348
|
0.00001
|
|
NM_001378969.1(KCND3):c.1648C>T (p.Arg550Cys)
|
rs778141653
|
0.00001
|
|
NM_001378969.1(KCND3):c.1697G>A (p.Arg566His)
|
rs761867267
|
0.00001
|
|
NM_001378969.1(KCND3):c.1849A>G (p.Ile617Val)
|
rs948125814
|
0.00001
|
|
NM_001378969.1(KCND3):c.1859C>A (p.Pro620His)
|
rs758318696
|
0.00001
|
|
NM_001378969.1(KCND3):c.1861C>G (p.Pro621Ala)
|
rs752495973
|
0.00001
|
|
NM_001378969.1(KCND3):c.1864G>T (p.Ala622Ser)
|
rs1417756814
|
0.00001
|
|
NM_001378969.1(KCND3):c.186G>A (p.Pro62=)
|
rs1411627342
|
0.00001
|
|
NM_001378969.1(KCND3):c.1879G>A (p.Gly627Arg)
|
rs372362132
|
0.00001
|
|
NM_001378969.1(KCND3):c.1917C>A (p.Asn639Lys)
|
rs777172603
|
0.00001
|
|
NM_001378969.1(KCND3):c.1943A>G (p.Asn648Ser)
|
rs766562520
|
0.00001
|
|
NM_001378969.1(KCND3):c.324C>T (p.Tyr108=)
|
rs777559132
|
0.00001
|
|
NM_001378969.1(KCND3):c.346G>A (p.Asp116Asn)
|
rs766584545
|
0.00001
|
|
NM_001378969.1(KCND3):c.399C>T (p.Tyr133=)
|
rs144184587
|
0.00001
|
|
NM_001378969.1(KCND3):c.609G>A (p.Glu203=)
|
rs1171946587
|
0.00001
|
|
NM_001378969.1(KCND3):c.622G>A (p.Gly208Ser)
|
rs760097003
|
0.00001
|
|
NM_001378969.1(KCND3):c.624C>T (p.Gly208=)
|
rs772815178
|
0.00001
|
|
NM_001378969.1(KCND3):c.727C>T (p.Leu243=)
|
rs769885163
|
0.00001
|
|
NM_001378969.1(KCND3):c.739G>A (p.Ala247Thr)
|
rs373756710
|
0.00001
|
|
NM_001378969.1(KCND3):c.786C>T (p.Ile262=)
|
rs369172530
|
0.00001
|
|
NM_001378969.1(KCND3):c.837C>T (p.Asn279=)
|
rs761397595
|
0.00001
|
|
NM_001378969.1(KCND3):c.89C>A (p.Ala30Asp)
|
rs1307934269
|
0.00001
|
|
NM_001378969.1(KCND3):c.96C>T (p.Ala32=)
|
rs767230824
|
0.00001
|
|
NM_001378969.1(KCND3):c.98A>T (p.Asp33Val)
|
rs760460512
|
0.00001
|
|
NM_001378969.1(KCND3):c.999C>T (p.Ile333=)
|
rs1250316713
|
0.00001
|
|
NM_001382391.1(CSPP1):c.-102G>A
|
rs1805078439
|
0.00001
|
|
NM_001382391.1(CSPP1):c.-112G>C
|
rs753468929
|
0.00001
|
|
NM_001382391.1(CSPP1):c.-116C>T
|
rs371071297
|
0.00001
|
|
NM_001382391.1(CSPP1):c.-140C>G
|
rs770993498
|
0.00001
|
|
NM_001382391.1(CSPP1):c.-146T>A
|
rs749476046
|
0.00001
|
|
NM_001382391.1(CSPP1):c.-75C>T
|
rs918221746
|
0.00001
|
|
NM_001382391.1(CSPP1):c.-76C>T
|
rs1261027822
|
0.00001
|
|
NM_001382391.1(CSPP1):c.-82G>C
|
rs778940690
|
0.00001
|
|
NM_001382391.1(CSPP1):c.100-3C>T
|
rs919525492
|
0.00001
|
|
NM_001382391.1(CSPP1):c.1009G>T (p.Ala337Ser)
|
rs1395802185
|
0.00001
|
|
NM_001382391.1(CSPP1):c.1023-9T>C
|
rs1161675884
|
0.00001
|
|
NM_001382391.1(CSPP1):c.1065C>T (p.Thr355=)
|
rs780635377
|
0.00001
|
|
NM_001382391.1(CSPP1):c.1115T>C (p.Ile372Thr)
|
rs1445583372
|
0.00001
|
|
NM_001382391.1(CSPP1):c.1123A>C (p.Arg375=)
|
rs1215710015
|
0.00001
|
|
NM_001382391.1(CSPP1):c.1186C>T (p.Arg396Ter)
|
rs775285273
|
0.00001
|
|
NM_001382391.1(CSPP1):c.1188-10T>C
|
rs1458775172
|
0.00001
|
|
NM_001382391.1(CSPP1):c.1194A>T (p.Lys398Asn)
|
rs1037020711
|
0.00001
|
|
NM_001382391.1(CSPP1):c.1241A>T (p.Lys414Ile)
|
rs1231591915
|
0.00001
|
|
NM_001382391.1(CSPP1):c.1315G>A (p.Ala439Thr)
|
rs1460794902
|
0.00001
|
|
NM_001382391.1(CSPP1):c.1398A>G (p.Pro466=)
|
rs182555422
|
0.00001
|
|
NM_001382391.1(CSPP1):c.1400C>A (p.Ser467Tyr)
|
rs974893054
|
0.00001
|
|
NM_001382391.1(CSPP1):c.1416A>G (p.Pro472=)
|
rs747901737
|
0.00001
|
|
NM_001382391.1(CSPP1):c.1433C>G (p.Pro478Arg)
|
rs1438276592
|
0.00001
|
|
NM_001382391.1(CSPP1):c.1497-2A>C
|
rs766633448
|
0.00001
|
|
NM_001382391.1(CSPP1):c.1502C>T (p.Ala501Val)
|
rs755596091
|
0.00001
|
|
NM_001382391.1(CSPP1):c.1521C>T (p.Pro507=)
|
rs199923715
|
0.00001
|
|
NM_001382391.1(CSPP1):c.1524A>G (p.Leu508=)
|
rs756441690
|
0.00001
|
|
NM_001382391.1(CSPP1):c.1540A>G (p.Thr514Ala)
|
rs1818321960
|
0.00001
|
|
NM_001382391.1(CSPP1):c.1550G>A (p.Arg517Gln)
|
rs778430027
|
0.00001
|
|
NM_001382391.1(CSPP1):c.1555C>T (p.Pro519Ser)
|
rs1818326433
|
0.00001
|
|
NM_001382391.1(CSPP1):c.1568C>A (p.Ala523Glu)
|
rs375900507
|
0.00001
|
|
NM_001382391.1(CSPP1):c.1591A>G (p.Asn531Asp)
|
rs768395830
|
0.00001
|
|
NM_001382391.1(CSPP1):c.1619A>G (p.Tyr540Cys)
|
rs1818416279
|
0.00001
|
|
NM_001382391.1(CSPP1):c.1623T>C (p.Gly541=)
|
rs1441641063
|
0.00001
|
|
NM_001382391.1(CSPP1):c.1645C>G (p.Pro549Ala)
|
rs754153035
|
0.00001
|
|
NM_001382391.1(CSPP1):c.1782T>C (p.Pro594=)
|
rs759106091
|
0.00001
|
|
NM_001382391.1(CSPP1):c.1827+10C>A
|
rs757078413
|
0.00001
|
|
NM_001382391.1(CSPP1):c.1827+3A>G
|
rs1449112719
|
0.00001
|
|
NM_001382391.1(CSPP1):c.1828-4C>A
|
rs1064797347
|
0.00001
|
|
NM_001382391.1(CSPP1):c.1831C>T (p.Arg611Trp)
|
rs527674289
|
0.00001
|
|
NM_001382391.1(CSPP1):c.1834G>T (p.Glu612Ter)
|
rs1225726214
|
0.00001
|
|
NM_001382391.1(CSPP1):c.1843G>C (p.Glu615Gln)
|
rs1822579573
|
0.00001
|
|
NM_001382391.1(CSPP1):c.1861C>T (p.Arg621Cys)
|
rs760288983
|
0.00001
|
|
NM_001382391.1(CSPP1):c.1871A>G (p.Lys624Arg)
|
rs1452211221
|
0.00001
|
|
NM_001382391.1(CSPP1):c.1875A>G (p.Glu625=)
|
rs1320611050
|
0.00001
|
|
NM_001382391.1(CSPP1):c.1906A>G (p.Arg636Gly)
|
rs1212455505
|
0.00001
|
|
NM_001382391.1(CSPP1):c.1928A>G (p.Lys643Arg)
|
rs1822600510
|
0.00001
|
|
NM_001382391.1(CSPP1):c.1959A>G (p.Ala653=)
|
rs1334965098
|
0.00001
|
|
NM_001382391.1(CSPP1):c.199+13A>G
|
rs756283251
|
0.00001
|
|
NM_001382391.1(CSPP1):c.1997G>A (p.Arg666Lys)
|
rs1420249213
|
0.00001
|
|
NM_001382391.1(CSPP1):c.200-15T>C
|
rs1025519086
|
0.00001
|
|
NM_001382391.1(CSPP1):c.2006T>C (p.Ile669Thr)
|
rs968055651
|
0.00001
|
|
NM_001382391.1(CSPP1):c.2018A>G (p.His673Arg)
|
rs769707621
|
0.00001
|
|
NM_001382391.1(CSPP1):c.2080G>T (p.Ala694Ser)
|
rs751023936
|
0.00001
|
|
NM_001382391.1(CSPP1):c.2128+17T>G
|
rs1465446692
|
0.00001
|
|
NM_001382391.1(CSPP1):c.2129G>C (p.Gly710Ala)
|
rs780885390
|
0.00001
|
|
NM_001382391.1(CSPP1):c.2141C>T (p.Thr714Ile)
|
rs577752590
|
0.00001
|
|
NM_001382391.1(CSPP1):c.2162G>A (p.Arg721Gln)
|
rs201974031
|
0.00001
|
|
NM_001382391.1(CSPP1):c.2168A>G (p.Asn723Ser)
|
rs1826216893
|
0.00001
|
|
NM_001382391.1(CSPP1):c.2234G>A (p.Arg745His)
|
rs769971911
|
0.00001
|
|
NM_001382391.1(CSPP1):c.2242-19A>T
|
rs771867162
|
0.00001
|
|
NM_001382391.1(CSPP1):c.2284C>A (p.Leu762Met)
|
rs760013419
|
0.00001
|
|
NM_001382391.1(CSPP1):c.2332G>A (p.Ala778Thr)
|
rs1421808533
|
0.00001
|
|
NM_001382391.1(CSPP1):c.2391+7C>G
|
rs1827123471
|
0.00001
|
|
NM_001382391.1(CSPP1):c.2435G>A (p.Arg812Lys)
|
rs1251717089
|
0.00001
|
|
NM_001382391.1(CSPP1):c.2436A>G (p.Arg812=)
|
rs775968442
|
0.00001
|
|
NM_001382391.1(CSPP1):c.2510G>A (p.Arg837Lys)
|
rs765955382
|
0.00001
|
|
NM_001382391.1(CSPP1):c.2538+10A>G
|
rs141325681
|
0.00001
|
|
NM_001382391.1(CSPP1):c.2538+11G>A
|
rs758376225
|
0.00001
|
|
NM_001382391.1(CSPP1):c.253C>T (p.His85Tyr)
|
rs769473253
|
0.00001
|
|
NM_001382391.1(CSPP1):c.2619C>T (p.Asp873=)
|
rs780284845
|
0.00001
|
|
NM_001382391.1(CSPP1):c.262A>G (p.Lys88Glu)
|
rs1332974255
|
0.00001
|
|
NM_001382391.1(CSPP1):c.2643+7A>G
|
rs190584438
|
0.00001
|
|
NM_001382391.1(CSPP1):c.2654T>C (p.Met885Thr)
|
rs894040195
|
0.00001
|
|
NM_001382391.1(CSPP1):c.2658C>G (p.Ser886=)
|
rs763958350
|
0.00001
|
|
NM_001382391.1(CSPP1):c.2676G>A (p.Pro892=)
|
rs778144204
|
0.00001
|
|
NM_001382391.1(CSPP1):c.2677G>A (p.Val893Ile)
|
rs1828816022
|
0.00001
|
|
NM_001382391.1(CSPP1):c.2732T>A (p.Met911Lys)
|
rs746260241
|
0.00001
|
|
NM_001382391.1(CSPP1):c.2754A>G (p.Lys918=)
|
rs1324539056
|
0.00001
|
|
NM_001382391.1(CSPP1):c.275G>C (p.Arg92Pro)
|
rs764280843
|
0.00001
|
|
NM_001382391.1(CSPP1):c.2773A>G (p.Arg925Gly)
|
rs772949501
|
0.00001
|
|
NM_001382391.1(CSPP1):c.2776C>T (p.Arg926Cys)
|
rs373151997
|
0.00001
|
|
NM_001382391.1(CSPP1):c.2789G>A (p.Arg930Gln)
|
rs377493480
|
0.00001
|
|
NM_001382391.1(CSPP1):c.2800A>G (p.Met934Val)
|
rs370720351
|
0.00001
|
|
NM_001382391.1(CSPP1):c.2807G>A (p.Ser936Asn)
|
rs1381482450
|
0.00001
|
|
NM_001382391.1(CSPP1):c.2813A>G (p.Asp938Gly)
|
rs1282726257
|
0.00001
|
|
NM_001382391.1(CSPP1):c.2829-3T>C
|
rs1830657246
|
0.00001
|
|
NM_001382391.1(CSPP1):c.2829-4A>G
|
rs752142812
|
0.00001
|
|
NM_001382391.1(CSPP1):c.2830A>T (p.Lys944Ter)
|
rs1380418532
|
0.00001
|
|
NM_001382391.1(CSPP1):c.285C>T (p.Tyr95=)
|
rs567550598
|
0.00001
|
|
NM_001382391.1(CSPP1):c.2864T>C (p.Met955Thr)
|
rs1162661826
|
0.00001
|
|
NM_001382391.1(CSPP1):c.2866G>T (p.Ala956Ser)
|
rs745710780
|
0.00001
|
|
NM_001382391.1(CSPP1):c.2886T>A (p.Ala962=)
|
rs761971816
|
0.00001
|
|
NM_001382391.1(CSPP1):c.2910G>C (p.Lys970Asn)
|
rs766939685
|
0.00001
|
|
NM_001382391.1(CSPP1):c.2968+1G>T
|
rs587777142
|
0.00001
|
|
NM_001382391.1(CSPP1):c.297T>C (p.Leu99=)
|
rs1810339109
|
0.00001
|
|
NM_001382391.1(CSPP1):c.2980C>T (p.Arg994Ter)
|
rs760275528
|
0.00001
|
|
NM_001382391.1(CSPP1):c.2986G>A (p.Asp996Asn)
|
rs1384362094
|
0.00001
|
|
NM_001382391.1(CSPP1):c.303+3A>T
|
rs920556156
|
0.00001
|
|
NM_001382391.1(CSPP1):c.303+7A>G
|
rs1810343333
|
0.00001
|
|
NM_001382391.1(CSPP1):c.3109+20G>A
|
rs373555747
|
0.00001
|
|
NM_001382391.1(CSPP1):c.3109+5G>C
|
rs772586492
|
0.00001
|
|
NM_001382391.1(CSPP1):c.3124A>G (p.Ile1042Val)
|
rs370238037
|
0.00001
|
|
NM_001382391.1(CSPP1):c.3156+16C>A
|
rs773054384
|
0.00001
|
|
NM_001382391.1(CSPP1):c.3163G>C (p.Asp1055His)
|
rs766496985
|
0.00001
|
|
NM_001382391.1(CSPP1):c.3236C>T (p.Thr1079Ile)
|
rs1368965128
|
0.00001
|
|
NM_001382391.1(CSPP1):c.3258C>T (p.Asp1086=)
|
rs769247285
|
0.00001
|
|
NM_001382391.1(CSPP1):c.3259G>A (p.Val1087Ile)
|
rs778723931
|
0.00001
|
|
NM_001382391.1(CSPP1):c.3298C>T (p.Arg1100Cys)
|
rs758825560
|
0.00001
|
|
NM_001382391.1(CSPP1):c.32A>C (p.Glu11Ala)
|
rs778293599
|
0.00001
|
|
NM_001382391.1(CSPP1):c.3340C>T (p.Arg1114Cys)
|
rs537833447
|
0.00001
|
|
NM_001382391.1(CSPP1):c.3355C>A (p.Pro1119Thr)
|
rs1017040124
|
0.00001
|
|
NM_001382391.1(CSPP1):c.3361G>A (p.Gly1121Ser)
|
rs1158377033
|
0.00001
|
|
NM_001382391.1(CSPP1):c.3382T>C (p.Ser1128Pro)
|
rs766061975
|
0.00001
|
|
NM_001382391.1(CSPP1):c.3479G>C (p.Ser1160Thr)
|
rs1170601676
|
0.00001
|
|
NM_001382391.1(CSPP1):c.3520G>C (p.Asp1174His)
|
rs752140903
|
0.00001
|
|
NM_001382391.1(CSPP1):c.3560G>A (p.Arg1187His)
|
rs748165041
|
0.00001
|
|
NM_001382391.1(CSPP1):c.3587G>A (p.Arg1196His)
|
rs1241589485
|
0.00001
|
|
NM_001382391.1(CSPP1):c.3619C>T (p.Gln1207Ter)
|
rs936435444
|
0.00001
|
|
NM_001382391.1(CSPP1):c.3653G>C (p.Trp1218Ser)
|
rs377160929
|
0.00001
|
|
NM_001382391.1(CSPP1):c.3672A>C (p.Ala1224=)
|
rs1040715506
|
0.00001
|
|
NM_001382391.1(CSPP1):c.414A>G (p.Glu138=)
|
rs760017432
|
0.00001
|
|
NM_001382391.1(CSPP1):c.500A>G (p.Asn167Ser)
|
rs1395114211
|
0.00001
|
|
NM_001382391.1(CSPP1):c.502A>C (p.Lys168Gln)
|
rs772650396
|
0.00001
|
|
NM_001382391.1(CSPP1):c.509C>A (p.Pro170His)
|
rs762548335
|
0.00001
|
|
NM_001382391.1(CSPP1):c.606A>G (p.Ala202=)
|
rs757510042
|
0.00001
|
|
NM_001382391.1(CSPP1):c.650A>G (p.Tyr217Cys)
|
rs747784602
|
0.00001
|
|
NM_001382391.1(CSPP1):c.659T>C (p.Leu220Pro)
|
rs1339065259
|
0.00001
|
|
NM_001382391.1(CSPP1):c.666T>C (p.Asp222=)
|
rs374780184
|
0.00001
|
|
NM_001382391.1(CSPP1):c.697A>G (p.Lys233Glu)
|
rs752084244
|
0.00001
|
|
NM_001382391.1(CSPP1):c.72A>C (p.Glu24Asp)
|
rs748917623
|
0.00001
|
|
NM_001382391.1(CSPP1):c.738T>C (p.His246=)
|
rs773951141
|
0.00001
|
|
NM_001382391.1(CSPP1):c.867G>A (p.Arg289=)
|
rs1446123007
|
0.00001
|
|
NM_001382391.1(CSPP1):c.875A>G (p.Tyr292Cys)
|
rs1369528194
|
0.00001
|
|
NM_001382391.1(CSPP1):c.908T>C (p.Val303Ala)
|
rs764343140
|
0.00001
|
|
NM_001382391.1(CSPP1):c.929A>G (p.His310Arg)
|
rs374738280
|
0.00001
|
|
NM_001382391.1(CSPP1):c.940C>T (p.Arg314Ter)
|
rs774703929
|
0.00001
|
|
NM_001382391.1(CSPP1):c.941G>A (p.Arg314Gln)
|
rs1173092063
|
0.00001
|
|
NM_001382391.1(CSPP1):c.989C>T (p.Ser330Leu)
|
rs754454865
|
0.00001
|
|
NM_015046.7(SETX):c.1012A>G (p.Thr338Ala)
|
rs999767103
|
0.00001
|
|
NM_015046.7(SETX):c.1086A>C (p.Glu362Asp)
|
rs768198537
|
0.00001
|
|
NM_015046.7(SETX):c.1204C>T (p.Arg402Cys)
|
rs772044862
|
0.00001
|
|
NM_015046.7(SETX):c.1288G>A (p.Ala430Thr)
|
rs778488721
|
0.00001
|
|
NM_015046.7(SETX):c.1438G>T (p.Val480Leu)
|
rs377301250
|
0.00001
|
|
NM_015046.7(SETX):c.1479C>T (p.Ala493=)
|
rs771289068
|
0.00001
|
|
NM_015046.7(SETX):c.1505G>A (p.Arg502Gln)
|
rs750044197
|
0.00001
|
|
NM_015046.7(SETX):c.1561C>T (p.Leu521=)
|
rs148638979
|
0.00001
|
|
NM_015046.7(SETX):c.167T>C (p.Phe56Ser)
|
rs1032816797
|
0.00001
|
|
NM_015046.7(SETX):c.1714C>G (p.Leu572Val)
|
rs1482836809
|
0.00001
|
|
NM_015046.7(SETX):c.172C>T (p.His58Tyr)
|
rs757760067
|
0.00001
|
|
NM_015046.7(SETX):c.177+18G>A
|
rs201574662
|
0.00001
|
|
NM_015046.7(SETX):c.1810A>G (p.Thr604Ala)
|
rs957434595
|
0.00001
|
|
NM_015046.7(SETX):c.1833A>G (p.Ala611=)
|
rs751829537
|
0.00001
|
|
NM_015046.7(SETX):c.1864G>A (p.Glu622Lys)
|
rs773035724
|
0.00001
|
|
NM_015046.7(SETX):c.1889C>T (p.Thr630Met)
|
rs749132753
|
0.00001
|
|
NM_015046.7(SETX):c.1951A>G (p.Lys651Glu)
|
rs1015257691
|
0.00001
|
|
NM_015046.7(SETX):c.1989_1994del (p.Ile664_Glu665del)
|
rs773195802
|
0.00001
|
|
NM_015046.7(SETX):c.2003A>G (p.Asn668Ser)
|
rs780898043
|
0.00001
|
|
NM_015046.7(SETX):c.2005A>T (p.Asn669Tyr)
|
rs143727702
|
0.00001
|
|
NM_015046.7(SETX):c.202C>T (p.Arg68Cys)
|
rs771481623
|
0.00001
|
|
NM_015046.7(SETX):c.208A>G (p.Ile70Val)
|
rs747469176
|
0.00001
|
|
NM_015046.7(SETX):c.2116A>G (p.Lys706Glu)
|
rs776432277
|
0.00001
|
|
NM_015046.7(SETX):c.2119A>G (p.Ile707Val)
|
rs1419145387
|
0.00001
|
|
NM_015046.7(SETX):c.2125A>G (p.Thr709Ala)
|
rs750530263
|
0.00001
|
|
NM_015046.7(SETX):c.2233C>T (p.Arg745Cys)
|
rs780121182
|
0.00001
|
|
NM_015046.7(SETX):c.2245G>A (p.Asp749Asn)
|
rs922821119
|
0.00001
|
|
NM_015046.7(SETX):c.2254A>G (p.Thr752Ala)
|
rs745938575
|
0.00001
|
|
NM_015046.7(SETX):c.2278A>G (p.Thr760Ala)
|
rs373647065
|
0.00001
|
|
NM_015046.7(SETX):c.2427C>G (p.Ile809Met)
|
rs765654690
|
0.00001
|
|
NM_015046.7(SETX):c.245G>A (p.Gly82Glu)
|
rs201864041
|
0.00001
|
|
NM_015046.7(SETX):c.2552A>T (p.Asp851Val)
|
rs375242350
|
0.00001
|
|
NM_015046.7(SETX):c.2607_2609del (p.Lys870del)
|
rs781159054
|
0.00001
|
|
NM_015046.7(SETX):c.2749A>C (p.Met917Leu)
|
rs761943404
|
0.00001
|
|
NM_015046.7(SETX):c.2788A>G (p.Ser930Gly)
|
rs770694223
|
0.00001
|
|
NM_015046.7(SETX):c.27A>G (p.Pro9=)
|
rs761487448
|
0.00001
|
|
NM_015046.7(SETX):c.2854A>G (p.Thr952Ala)
|
rs1375463032
|
0.00001
|
|
NM_015046.7(SETX):c.2914A>G (p.Ser972Gly)
|
rs1354775471
|
0.00001
|
|
NM_015046.7(SETX):c.2934C>T (p.Ser978=)
|
rs144154512
|
0.00001
|
|
NM_015046.7(SETX):c.2985A>C (p.Lys995Asn)
|
rs1285317289
|
0.00001
|
|
NM_015046.7(SETX):c.3018A>C (p.Gly1006=)
|
rs997364371
|
0.00001
|
|
NM_015046.7(SETX):c.301A>G (p.Ile101Val)
|
rs376848704
|
0.00001
|
|
NM_015046.7(SETX):c.3028C>T (p.Arg1010Cys)
|
rs766799023
|
0.00001
|
|
NM_015046.7(SETX):c.3037G>A (p.Val1013Ile)
|
rs773068299
|
0.00001
|
|
NM_015046.7(SETX):c.3040A>G (p.Ile1014Val)
|
rs761243379
|
0.00001
|
|
NM_015046.7(SETX):c.304A>G (p.Thr102Ala)
|
rs770962447
|
0.00001
|
|
NM_015046.7(SETX):c.3096A>T (p.Lys1032Asn)
|
rs1846998334
|
0.00001
|
|
NM_015046.7(SETX):c.3099C>T (p.Leu1033=)
|
rs755461440
|
0.00001
|
|
NM_015046.7(SETX):c.3294C>T (p.Asp1098=)
|
rs61732723
|
0.00001
|
|
NM_015046.7(SETX):c.3299A>C (p.Asn1100Thr)
|
rs545072717
|
0.00001
|
|
NM_015046.7(SETX):c.3332T>G (p.Leu1111Trp)
|
rs1564541841
|
0.00001
|
|
NM_015046.7(SETX):c.3351T>C (p.Thr1117=)
|
rs1846972454
|
0.00001
|
|
NM_015046.7(SETX):c.3355A>G (p.Asn1119Asp)
|
rs200072123
|
0.00001
|
|
NM_015046.7(SETX):c.3385G>A (p.Glu1129Lys)
|
rs778505279
|
0.00001
|
|
NM_015046.7(SETX):c.3410G>A (p.Gly1137Asp)
|
rs62576475
|
0.00001
|
|
NM_015046.7(SETX):c.3433C>T (p.Arg1145Trp)
|
rs375796832
|
0.00001
|
|
NM_015046.7(SETX):c.3462A>C (p.Glu1154Asp)
|
rs1297541939
|
0.00001
|
|
NM_015046.7(SETX):c.3525G>A (p.Arg1175=)
|
rs1353053473
|
0.00001
|
|
NM_015046.7(SETX):c.3603T>C (p.Ile1201=)
|
rs565774066
|
0.00001
|
|
NM_015046.7(SETX):c.3680G>T (p.Cys1227Phe)
|
rs750526955
|
0.00001
|
|
NM_015046.7(SETX):c.36T>C (p.Ala12=)
|
rs1198947358
|
0.00001
|
|
NM_015046.7(SETX):c.3723C>A (p.Thr1241=)
|
rs367828971
|
0.00001
|
|
NM_015046.7(SETX):c.372T>G (p.Leu124=)
|
rs1263479038
|
0.00001
|
|
NM_015046.7(SETX):c.3780A>G (p.Leu1260=)
|
rs375854407
|
0.00001
|
|
NM_015046.7(SETX):c.3802A>G (p.Ile1268Val)
|
rs764516725
|
0.00001
|
|
NM_015046.7(SETX):c.3813A>G (p.Pro1271=)
|
rs759945253
|
0.00001
|
|
NM_015046.7(SETX):c.3823C>T (p.Arg1275Cys)
|
rs760272692
|
0.00001
|
|
NM_015046.7(SETX):c.382C>T (p.Arg128Cys)
|
rs552476047
|
0.00001
|
|
NM_015046.7(SETX):c.3900C>T (p.Ser1300=)
|
rs886063554
|
0.00001
|
|
NM_015046.7(SETX):c.3931C>T (p.Arg1311Cys)
|
rs773999398
|
0.00001
|
|
NM_015046.7(SETX):c.4045C>G (p.Gln1349Glu)
|
rs146407699
|
0.00001
|
|
NM_015046.7(SETX):c.4114G>C (p.Asp1372His)
|
rs1564539457
|
0.00001
|
|
NM_015046.7(SETX):c.4120A>G (p.Lys1374Glu)
|
rs756823072
|
0.00001
|
|
NM_015046.7(SETX):c.4262C>G (p.Pro1421Arg)
|
rs778111855
|
0.00001
|
|
NM_015046.7(SETX):c.4283A>G (p.His1428Arg)
|
rs778236359
|
0.00001
|
|
NM_015046.7(SETX):c.4297A>G (p.Thr1433Ala)
|
rs1038733632
|
0.00001
|
|
NM_015046.7(SETX):c.4432G>A (p.Ala1478Thr)
|
rs759545112
|
0.00001
|
|
NM_015046.7(SETX):c.4459T>A (p.Ser1487Thr)
|
rs772466321
|
0.00001
|
|
NM_015046.7(SETX):c.4563A>G (p.Glu1521=)
|
rs374149839
|
0.00001
|
|
NM_015046.7(SETX):c.4663C>G (p.Leu1555Val)
|
rs558075773
|
0.00001
|
|
NM_015046.7(SETX):c.4707T>C (p.Ser1569=)
|
rs769964668
|
0.00001
|
|
NM_015046.7(SETX):c.4738C>T (p.Arg1580Cys)
|
rs752179261
|
0.00001
|
|
NM_015046.7(SETX):c.4757C>T (p.Pro1586Leu)
|
rs1165229035
|
0.00001
|
|
NM_015046.7(SETX):c.4759C>T (p.Pro1587Ser)
|
rs916634082
|
0.00001
|
|
NM_015046.7(SETX):c.484C>T (p.His162Tyr)
|
rs1186709340
|
0.00001
|
|
NM_015046.7(SETX):c.4860T>G (p.Leu1620=)
|
rs758938142
|
0.00001
|
|
NM_015046.7(SETX):c.4872A>G (p.Leu1624=)
|
rs567475841
|
0.00001
|
|
NM_015046.7(SETX):c.4885A>G (p.Lys1629Glu)
|
rs1362908917
|
0.00001
|
|
NM_015046.7(SETX):c.4903T>A (p.Leu1635Met)
|
rs1466879487
|
0.00001
|
|
NM_015046.7(SETX):c.4963T>C (p.Ser1655Pro)
|
rs142509544
|
0.00001
|
|
NM_015046.7(SETX):c.4970A>G (p.Asn1657Ser)
|
rs567825753
|
0.00001
|
|
NM_015046.7(SETX):c.4971T>C (p.Asn1657=)
|
rs1159266524
|
0.00001
|
|
NM_015046.7(SETX):c.499-10C>T
|
rs1444405452
|
0.00001
|
|
NM_015046.7(SETX):c.499-9T>C
|
rs760214195
|
0.00001
|
|
NM_015046.7(SETX):c.5008C>A (p.Gln1670Lys)
|
rs762808367
|
0.00001
|
|
NM_015046.7(SETX):c.5171G>A (p.Ser1724Asn)
|
rs770527045
|
0.00001
|
|
NM_015046.7(SETX):c.5203G>A (p.Val1735Ile)
|
rs752646721
|
0.00001
|
|
NM_015046.7(SETX):c.5279C>T (p.Ala1760Val)
|
rs758411198
|
0.00001
|
|
NM_015046.7(SETX):c.5302A>T (p.Asn1768Tyr)
|
rs766799310
|
0.00001
|
|
NM_015046.7(SETX):c.5320C>T (p.Gln1774Ter)
|
rs1391764195
|
0.00001
|
|
NM_015046.7(SETX):c.5431G>A (p.Val1811Met)
|
rs947336270
|
0.00001
|
|
NM_015046.7(SETX):c.5434T>A (p.Phe1812Ile)
|
rs763771426
|
0.00001
|
|
NM_015046.7(SETX):c.5464A>G (p.Lys1822Glu)
|
rs1249423284
|
0.00001
|
|
NM_015046.7(SETX):c.5501A>G (p.His1834Arg)
|
rs770822383
|
0.00001
|
|
NM_015046.7(SETX):c.5503G>A (p.Glu1835Lys)
|
rs143133190
|
0.00001
|
|
NM_015046.7(SETX):c.5548+17G>A
|
rs1313333580
|
0.00001
|
|
NM_015046.7(SETX):c.5557G>A (p.Gly1853Arg)
|
rs377620145
|
0.00001
|
|
NM_015046.7(SETX):c.5573A>C (p.Tyr1858Ser)
|
rs747493129
|
0.00001
|
|
NM_015046.7(SETX):c.5661A>G (p.Gln1887=)
|
rs1589671916
|
0.00001
|
|
NM_015046.7(SETX):c.5719C>T (p.Leu1907=)
|
rs767373911
|
0.00001
|
|
NM_015046.7(SETX):c.571G>A (p.Glu191Lys)
|
rs929798338
|
0.00001
|
|
NM_015046.7(SETX):c.5782-6A>G
|
rs781129157
|
0.00001
|
|
NM_015046.7(SETX):c.5804A>G (p.Asn1935Ser)
|
rs762791927
|
0.00001
|
|
NM_015046.7(SETX):c.5839G>A (p.Ala1947Thr)
|
rs141440621
|
0.00001
|
|
NM_015046.7(SETX):c.5901A>G (p.Thr1967=)
|
rs780717865
|
0.00001
|
|
NM_015046.7(SETX):c.5929C>T (p.Leu1977Phe)
|
rs121434380
|
0.00001
|
|
NM_015046.7(SETX):c.5936G>A (p.Arg1979His)
|
rs761031238
|
0.00001
|
|
NM_015046.7(SETX):c.5950-14G>A
|
rs375632375
|
0.00001
|
|
NM_015046.7(SETX):c.5970A>G (p.Ser1990=)
|
rs1844648216
|
0.00001
|
|
NM_015046.7(SETX):c.5973C>T (p.Asp1991=)
|
rs1210056357
|
0.00001
|
|
NM_015046.7(SETX):c.598A>G (p.Ile200Val)
|
rs1368588434
|
0.00001
|
|
NM_015046.7(SETX):c.6024T>C (p.Pro2008=)
|
rs1045096306
|
0.00001
|
|
NM_015046.7(SETX):c.6058A>G (p.Ile2020Val)
|
rs546932016
|
0.00001
|
|
NM_015046.7(SETX):c.6106+13T>C
|
rs370909687
|
0.00001
|
|
NM_015046.7(SETX):c.6107-5A>G
|
rs1284217475
|
0.00001
|
|
NM_015046.7(SETX):c.6193G>C (p.Val2065Leu)
|
rs755531730
|
0.00001
|
|
NM_015046.7(SETX):c.6248G>T (p.Arg2083Ile)
|
rs751252138
|
0.00001
|
|
NM_015046.7(SETX):c.6313C>T (p.Arg2105Trp)
|
rs142843968
|
0.00001
|
|
NM_015046.7(SETX):c.6351C>T (p.Ser2117=)
|
rs200269892
|
0.00001
|
|
NM_015046.7(SETX):c.6474T>C (p.Ser2158=)
|
rs1216377543
|
0.00001
|
|
NM_015046.7(SETX):c.64G>A (p.Ala22Thr)
|
rs756600708
|
0.00001
|
|
NM_015046.7(SETX):c.6546+18C>G
|
rs915871195
|
0.00001
|
|
NM_015046.7(SETX):c.6654+12A>G
|
rs1015821444
|
0.00001
|
|
NM_015046.7(SETX):c.6678C>A (p.Asp2226Glu)
|
rs752107891
|
0.00001
|
|
NM_015046.7(SETX):c.6771G>A (p.Gln2257=)
|
rs778895541
|
0.00001
|
|
NM_015046.7(SETX):c.6792A>G (p.Ile2264Met)
|
rs148041889
|
0.00001
|
|
NM_015046.7(SETX):c.6804T>A (p.Pro2268=)
|
rs145236863
|
0.00001
|
|
NM_015046.7(SETX):c.6805T>A (p.Ser2269Thr)
|
rs1421665944
|
0.00001
|
|
NM_015046.7(SETX):c.6838A>G (p.Asn2280Asp)
|
rs1843269972
|
0.00001
|
|
NM_015046.7(SETX):c.6897dup (p.Phe2300fs)
|
rs1331217337
|
0.00001
|
|
NM_015046.7(SETX):c.6922A>G (p.Arg2308Gly)
|
rs370135596
|
0.00001
|
|
NM_015046.7(SETX):c.6970A>T (p.Met2324Leu)
|
rs781671592
|
0.00001
|
|
NM_015046.7(SETX):c.7005G>C (p.Lys2335Asn)
|
rs141657462
|
0.00001
|
|
NM_015046.7(SETX):c.7058C>T (p.Thr2353Met)
|
rs201629099
|
0.00001
|
|
NM_015046.7(SETX):c.7139G>A (p.Arg2380Gln)
|
rs145397619
|
0.00001
|
|
NM_015046.7(SETX):c.71A>G (p.Asn24Ser)
|
rs981346599
|
0.00001
|
|
NM_015046.7(SETX):c.7413A>T (p.Arg2471Ser)
|
rs1382990384
|
0.00001
|
|
NM_015046.7(SETX):c.7417C>G (p.Leu2473Val)
|
rs760196991
|
0.00001
|
|
NM_015046.7(SETX):c.7447G>A (p.Gly2483Arg)
|
rs183776349
|
0.00001
|
|
NM_015046.7(SETX):c.7473C>T (p.Pro2491=)
|
rs1173009713
|
0.00001
|
|
NM_015046.7(SETX):c.7475G>C (p.Ser2492Thr)
|
rs1842557730
|
0.00001
|
|
NM_015046.7(SETX):c.7481A>G (p.Lys2494Arg)
|
rs755711135
|
0.00001
|
|
NM_015046.7(SETX):c.7590T>A (p.Pro2530=)
|
rs1374204163
|
0.00001
|
|
NM_015046.7(SETX):c.765C>A (p.Ser255=)
|
rs774297687
|
0.00001
|
|
NM_015046.7(SETX):c.7666T>A (p.Trp2556Arg)
|
rs756715534
|
0.00001
|
|
NM_015046.7(SETX):c.7708C>T (p.Pro2570Ser)
|
rs1240232139
|
0.00001
|
|
NM_015046.7(SETX):c.7720G>A (p.Glu2574Lys)
|
rs145345675
|
0.00001
|
|
NM_015046.7(SETX):c.7778T>C (p.Val2593Ala)
|
rs905773255
|
0.00001
|
|
NM_015046.7(SETX):c.7814G>A (p.Arg2605Gln)
|
rs543247171
|
0.00001
|
|
NM_015046.7(SETX):c.7912T>G (p.Phe2638Val)
|
rs144706487
|
0.00001
|
|
NM_015046.7(SETX):c.7972A>G (p.Arg2658Gly)
|
rs779793402
|
0.00001
|
|
NM_015046.7(SETX):c.808A>G (p.Ile270Val)
|
rs1387745582
|
0.00001
|
|
NM_015046.7(SETX):c.820A>G (p.Met274Val)
|
rs753713810
|
0.00001
|
|
NM_015046.7(SETX):c.823G>A (p.Glu275Lys)
|
rs901741485
|
0.00001
|
|
NM_015046.7(SETX):c.865G>A (p.Ala289Thr)
|
rs775579797
|
0.00001
|
|
NM_015046.7(SETX):c.866C>T (p.Ala289Val)
|
rs1237541645
|
0.00001
|
|
NM_015046.7(SETX):c.964G>A (p.Ala322Thr)
|
rs540348550
|
0.00001
|
|
NM_015046.7(SETX):c.980A>T (p.Glu327Val)
|
rs1315992594
|
0.00001
|
|
NM_015046.7(SETX):c.998A>G (p.Asn333Ser)
|
rs538829833
|
0.00001
|
|
NM_015046.7(SETX):c.99C>T (p.Ala33=)
|
rs762914576
|
0.00001
|
|
NM_016169.4(SUFU):c.1003C>T (p.Leu335Phe)
|
rs757401093
|
0.00001
|
|
NM_016169.4(SUFU):c.1005C>T (p.Leu335=)
|
rs575246362
|
0.00001
|
|
NM_016169.4(SUFU):c.1011C>T (p.His337=)
|
rs747747662
|
0.00001
|
|
NM_016169.4(SUFU):c.1015C>T (p.Arg339Trp)
|
rs773037813
|
0.00001
|
|
NM_016169.4(SUFU):c.1016G>A (p.Arg339Gln)
|
rs369910221
|
0.00001
|
|
NM_016169.4(SUFU):c.1022+12A>G
|
rs2063496960
|
0.00001
|
|
NM_016169.4(SUFU):c.1022+14T>C
|
rs758576759
|
0.00001
|
|
NM_016169.4(SUFU):c.1022+16T>C
|
rs764272302
|
0.00001
|
|
NM_016169.4(SUFU):c.1022+6T>C
|
rs1216584462
|
0.00001
|
|
NM_016169.4(SUFU):c.1022C>T (p.Pro341Leu)
|
rs587778699
|
0.00001
|
|
NM_016169.4(SUFU):c.1023-16T>C
|
rs762717407
|
0.00001
|
|
NM_016169.4(SUFU):c.1023-18C>A
|
rs892399500
|
0.00001
|
|
NM_016169.4(SUFU):c.1027C>T (p.Arg343Cys)
|
rs751728820
|
0.00001
|
|
NM_016169.4(SUFU):c.1030A>C (p.Lys344Gln)
|
rs1590082116
|
0.00001
|
|
NM_016169.4(SUFU):c.1042G>C (p.Glu348Gln)
|
rs1447671524
|
0.00001
|
|
NM_016169.4(SUFU):c.1055C>A (p.Ser352Tyr)
|
rs1464341550
|
0.00001
|
|
NM_016169.4(SUFU):c.1073A>G (p.His358Arg)
|
rs1432365875
|
0.00001
|
|
NM_016169.4(SUFU):c.107C>T (p.Ala36Val)
|
rs566714720
|
0.00001
|
|
NM_016169.4(SUFU):c.1085G>A (p.Arg362His)
|
rs755390277
|
0.00001
|
|
NM_016169.4(SUFU):c.1088C>T (p.Thr363Met)
|
rs1554854578
|
0.00001
|
|
NM_016169.4(SUFU):c.1089G>A (p.Thr363=)
|
rs1438357532
|
0.00001
|
|
NM_016169.4(SUFU):c.1089G>T (p.Thr363=)
|
rs1438357532
|
0.00001
|
|
NM_016169.4(SUFU):c.1091G>A (p.Arg364Gln)
|
rs749802616
|
0.00001
|
|
NM_016169.4(SUFU):c.1104C>T (p.Ser368=)
|
rs746580970
|
0.00001
|
|
NM_016169.4(SUFU):c.1131C>T (p.Ser377=)
|
rs775396007
|
0.00001
|
|
NM_016169.4(SUFU):c.1146T>G (p.Pro382=)
|
rs1159204850
|
0.00001
|
|
NM_016169.4(SUFU):c.1150T>A (p.Cys384Ser)
|
rs375419295
|
0.00001
|
|
NM_016169.4(SUFU):c.1157+14C>A
|
rs2063675828
|
0.00001
|
|
NM_016169.4(SUFU):c.1157+6C>T
|
rs535323089
|
0.00001
|
|
NM_016169.4(SUFU):c.1157G>A (p.Arg386Lys)
|
rs767814106
|
0.00001
|
|
NM_016169.4(SUFU):c.1158-8A>G
|
rs749166919
|
0.00001
|
|
NM_016169.4(SUFU):c.1176A>G (p.Gly392=)
|
rs771819487
|
0.00001
|
|
NM_016169.4(SUFU):c.1177C>T (p.Arg393Trp)
|
rs201326378
|
0.00001
|
|
NM_016169.4(SUFU):c.1188A>C (p.Thr396=)
|
rs1418070936
|
0.00001
|
|
NM_016169.4(SUFU):c.1191T>C (p.Tyr397=)
|
rs895235845
|
0.00001
|
|
NM_016169.4(SUFU):c.1217T>C (p.Ile406Thr)
|
rs1554854758
|
0.00001
|
|
NM_016169.4(SUFU):c.1218C>A (p.Ile406=)
|
rs1416629342
|
0.00001
|
|
NM_016169.4(SUFU):c.1227C>G (p.Val409=)
|
rs753190647
|
0.00001
|
|
NM_016169.4(SUFU):c.123C>T (p.Cys41=)
|
rs1412892420
|
0.00001
|
|
NM_016169.4(SUFU):c.124C>T (p.Arg42Cys)
|
rs2062292519
|
0.00001
|
|
NM_016169.4(SUFU):c.1275G>A (p.Ala425=)
|
rs771832461
|
0.00001
|
|
NM_016169.4(SUFU):c.1296+9G>T
|
rs759664715
|
0.00001
|
|
NM_016169.4(SUFU):c.1309G>A (p.Glu437Lys)
|
rs766370528
|
0.00001
|
|
NM_016169.4(SUFU):c.1317T>C (p.Phe439=)
|
rs748603932
|
0.00001
|
|
NM_016169.4(SUFU):c.1326A>C (p.Lys442Asn)
|
rs1311816626
|
0.00001
|
|
NM_016169.4(SUFU):c.1329G>A (p.Met443Ile)
|
rs773805575
|
0.00001
|
|
NM_016169.4(SUFU):c.135C>T (p.Tyr45=)
|
rs1342856960
|
0.00001
|
|
NM_016169.4(SUFU):c.1362G>A (p.Glu454=)
|
rs771380823
|
0.00001
|
|
NM_016169.4(SUFU):c.1365+13G>C
|
rs1370046167
|
0.00001
|
|
NM_016169.4(SUFU):c.1366-18T>C
|
rs778922691
|
0.00001
|
|
NM_016169.4(SUFU):c.1366-4A>G
|
rs201139426
|
0.00001
|
|
NM_016169.4(SUFU):c.1379A>G (p.Lys460Arg)
|
rs778125780
|
0.00001
|
|
NM_016169.4(SUFU):c.1386C>T (p.Tyr462=)
|
rs2063824214
|
0.00001
|
|
NM_016169.4(SUFU):c.1388G>A (p.Ser463Asn)
|
rs147404195
|
0.00001
|
|
NM_016169.4(SUFU):c.13C>T (p.Arg5Trp)
|
rs948353979
|
0.00001
|
|
NM_016169.4(SUFU):c.1429G>A (p.Val477Met)
|
rs1060501117
|
0.00001
|
|
NM_016169.4(SUFU):c.1455G>A (p.Ter485=)
|
rs773021913
|
0.00001
|
|
NM_016169.4(SUFU):c.146C>T (p.Pro49Leu)
|
rs1479128337
|
0.00001
|
|
NM_016169.4(SUFU):c.166G>T (p.Ala56Ser)
|
rs200061483
|
0.00001
|
|
NM_016169.4(SUFU):c.178T>C (p.Tyr60His)
|
rs2062294197
|
0.00001
|
|
NM_016169.4(SUFU):c.182+11G>A
|
rs766984305
|
0.00001
|
|
NM_016169.4(SUFU):c.182+8C>G
|
rs751208244
|
0.00001
|
|
NM_016169.4(SUFU):c.217A>C (p.Met73Leu)
|
rs1183694060
|
0.00001
|
|
NM_016169.4(SUFU):c.252C>A (p.Ile84=)
|
rs1437282528
|
0.00001
|
|
NM_016169.4(SUFU):c.256G>A (p.Glu86Lys)
|
rs770989077
|
0.00001
|
|
NM_016169.4(SUFU):c.267C>T (p.His89=)
|
rs1236109627
|
0.00001
|
|
NM_016169.4(SUFU):c.26C>A (p.Ala9Asp)
|
rs775491374
|
0.00001
|
|
NM_016169.4(SUFU):c.26C>T (p.Ala9Val)
|
rs775491374
|
0.00001
|
|
NM_016169.4(SUFU):c.279C>T (p.Phe93=)
|
rs770218907
|
0.00001
|
|
NM_016169.4(SUFU):c.296A>G (p.Tyr99Cys)
|
rs1464640869
|
0.00001
|
|
NM_016169.4(SUFU):c.300T>A (p.Gly100=)
|
rs775876798
|
0.00001
|
|
NM_016169.4(SUFU):c.304A>G (p.Asn102Asp)
|
rs1564657066
|
0.00001
|
|
NM_016169.4(SUFU):c.30C>T (p.Pro10=)
|
rs1315277679
|
0.00001
|
|
NM_016169.4(SUFU):c.316G>A (p.Glu106Lys)
|
rs1040654062
|
0.00001
|
|
NM_016169.4(SUFU):c.317+15C>A
|
rs760470575
|
0.00001
|
|
NM_016169.4(SUFU):c.318-11A>C
|
rs1485269392
|
0.00001
|
|
NM_016169.4(SUFU):c.318-7C>G
|
rs751778806
|
0.00001
|
|
NM_016169.4(SUFU):c.318G>T (p.Glu106Asp)
|
rs1188593672
|
0.00001
|
|
NM_016169.4(SUFU):c.322A>G (p.Thr108Ala)
|
rs1425171528
|
0.00001
|
|
NM_016169.4(SUFU):c.329C>G (p.Thr110Arg)
|
rs1171604398
|
0.00001
|
|
NM_016169.4(SUFU):c.363C>A (p.Thr121=)
|
rs910976342
|
0.00001
|
|
NM_016169.4(SUFU):c.368G>A (p.Arg123His)
|
rs745958724
|
0.00001
|
|
NM_016169.4(SUFU):c.38C>G (p.Thr13Ser)
|
rs768935165
|
0.00001
|
|
NM_016169.4(SUFU):c.427G>A (p.Gly143Ser)
|
rs1590019047
|
0.00001
|
|
NM_016169.4(SUFU):c.436C>T (p.Arg146Ter)
|
rs1060501109
|
0.00001
|
|
NM_016169.4(SUFU):c.437G>A (p.Arg146Gln)
|
rs764847917
|
0.00001
|
|
NM_016169.4(SUFU):c.444G>A (p.Val148=)
|
rs757424197
|
0.00001
|
|
NM_016169.4(SUFU):c.454+11dup
|
rs756465918
|
0.00001
|
|
NM_016169.4(SUFU):c.45C>T (p.Pro15=)
|
rs767543227
|
0.00001
|
|
NM_016169.4(SUFU):c.477C>T (p.Asp159=)
|
rs2063415176
|
0.00001
|
|
NM_016169.4(SUFU):c.480T>C (p.His160=)
|
rs1308247295
|
0.00001
|
|
NM_016169.4(SUFU):c.529A>G (p.Met177Val)
|
rs758672583
|
0.00001
|
|
NM_016169.4(SUFU):c.53C>G (p.Pro18Arg)
|
rs1489443369
|
0.00001
|
|
NM_016169.4(SUFU):c.55G>A (p.Gly19Ser)
|
rs1207697890
|
0.00001
|
|
NM_016169.4(SUFU):c.561C>T (p.Pro187=)
|
rs769503197
|
0.00001
|
|
NM_016169.4(SUFU):c.562G>A (p.Val188Met)
|
rs1462013962
|
0.00001
|
|
NM_016169.4(SUFU):c.579G>A (p.Gly193=)
|
rs1590061953
|
0.00001
|
|
NM_016169.4(SUFU):c.591C>T (p.Phe197=)
|
rs748830496
|
0.00001
|
|
NM_016169.4(SUFU):c.597+12G>T
|
rs200418460
|
0.00001
|
|
NM_016169.4(SUFU):c.597+18C>T
|
rs761796540
|
0.00001
|
|
NM_016169.4(SUFU):c.598-12C>T
|
rs768142814
|
0.00001
|
|
NM_016169.4(SUFU):c.5C>T (p.Ala2Val)
|
rs1589969719
|
0.00001
|
|
NM_016169.4(SUFU):c.601G>A (p.Val201Ile)
|
rs147695965
|
0.00001
|
|
NM_016169.4(SUFU):c.602T>C (p.Val201Ala)
|
rs772840788
|
0.00001
|
|
NM_016169.4(SUFU):c.609C>T (p.Val203=)
|
rs1267238528
|
0.00001
|
|
NM_016169.4(SUFU):c.615T>C (p.Thr205=)
|
rs1187200623
|
0.00001
|
|
NM_016169.4(SUFU):c.637C>G (p.Gln213Glu)
|
rs907135467
|
0.00001
|
|
NM_016169.4(SUFU):c.644A>G (p.Asn215Ser)
|
rs1178631893
|
0.00001
|
|
NM_016169.4(SUFU):c.645C>T (p.Asn215=)
|
rs551772204
|
0.00001
|
|
NM_016169.4(SUFU):c.64G>C (p.Ala22Pro)
|
rs1564654422
|
0.00001
|
|
NM_016169.4(SUFU):c.65C>G (p.Ala22Gly)
|
rs761240106
|
0.00001
|
|
NM_016169.4(SUFU):c.683+12T>C
|
rs1164701799
|
0.00001
|
|
NM_016169.4(SUFU):c.683+17G>A
|
rs1027742260
|
0.00001
|
|
NM_016169.4(SUFU):c.684-12C>T
|
rs1211187751
|
0.00001
|
|
NM_016169.4(SUFU):c.684-9T>C
|
rs746032665
|
0.00001
|
|
NM_016169.4(SUFU):c.68C>T (p.Pro23Leu)
|
rs2062290972
|
0.00001
|
|
NM_016169.4(SUFU):c.690C>T (p.Gly230=)
|
rs775675385
|
0.00001
|
|
NM_016169.4(SUFU):c.691G>A (p.Gly231Ser)
|
rs1457485957
|
0.00001
|
|
NM_016169.4(SUFU):c.693C>A (p.Gly231=)
|
rs200885602
|
0.00001
|
|
NM_016169.4(SUFU):c.726G>A (p.Glu242=)
|
rs1166474720
|
0.00001
|
|
NM_016169.4(SUFU):c.728C>A (p.Thr243Asn)
|
rs544734275
|
0.00001
|
|
NM_016169.4(SUFU):c.742G>A (p.Asp248Asn)
|
rs1283509771
|
0.00001
|
|
NM_016169.4(SUFU):c.750C>A (p.His250Gln)
|
rs1235137905
|
0.00001
|
|
NM_016169.4(SUFU):c.753G>A (p.Leu251=)
|
rs2063435526
|
0.00001
|
|
NM_016169.4(SUFU):c.756+10G>C
|
rs764838079
|
0.00001
|
|
NM_016169.4(SUFU):c.756A>G (p.Gln252=)
|
rs1317467424
|
0.00001
|
|
NM_016169.4(SUFU):c.778G>A (p.Glu260Lys)
|
rs775245784
|
0.00001
|
|
NM_016169.4(SUFU):c.811G>T (p.Ala271Ser)
|
rs762258680
|
0.00001
|
|
NM_016169.4(SUFU):c.827A>G (p.Asp276Gly)
|
rs772598822
|
0.00001
|
|
NM_016169.4(SUFU):c.838C>T (p.Arg280Trp)
|
rs761003435
|
0.00001
|
|
NM_016169.4(SUFU):c.842C>T (p.Pro281Leu)
|
rs752387760
|
0.00001
|
|
NM_016169.4(SUFU):c.843C>T (p.Pro281=)
|
rs1590066015
|
0.00001
|
|
NM_016169.4(SUFU):c.845C>A (p.Pro282His)
|
rs2063472026
|
0.00001
|
|
NM_016169.4(SUFU):c.846C>T (p.Pro282=)
|
rs762558038
|
0.00001
|
|
NM_016169.4(SUFU):c.848A>G (p.Glu283Gly)
|
rs763598499
|
0.00001
|
|
NM_016169.4(SUFU):c.849G>A (p.Glu283=)
|
rs751057597
|
0.00001
|
|
NM_016169.4(SUFU):c.84G>T (p.Ser28=)
|
rs376752468
|
0.00001
|
|
NM_016169.4(SUFU):c.856G>A (p.Glu286Lys)
|
rs564728455
|
0.00001
|
|
NM_016169.4(SUFU):c.872T>C (p.Ile291Thr)
|
rs587778698
|
0.00001
|
|
NM_016169.4(SUFU):c.894G>T (p.Arg298=)
|
rs372636246
|
0.00001
|
|
NM_016169.4(SUFU):c.904G>A (p.Gly302Ser)
|
rs1164574977
|
0.00001
|
|
NM_016169.4(SUFU):c.910+20A>G
|
rs1442018997
|
0.00001
|
|
NM_016169.4(SUFU):c.910+8C>G
|
rs1159461161
|
0.00001
|
|
NM_016169.4(SUFU):c.910+9C>T
|
rs998413406
|
0.00001
|
|
NM_016169.4(SUFU):c.911-19C>T
|
rs1053684007
|
0.00001
|
|
NM_016169.4(SUFU):c.933C>A (p.Thr311=)
|
rs767071744
|
0.00001
|
|
NM_016169.4(SUFU):c.943G>A (p.Gly315Arg)
|
rs141737156
|
0.00001
|
|
NM_016169.4(SUFU):c.948C>G (p.Leu316=)
|
rs1236947004
|
0.00001
|
|
NM_016169.4(SUFU):c.957C>G (p.Asn319Lys)
|
rs535845342
|
0.00001
|
|
NM_016169.4(SUFU):c.967G>A (p.Val323Ile)
|
rs1420089970
|
0.00001
|
|
NM_016169.4(SUFU):c.96G>A (p.Pro32=)
|
rs1483435746
|
0.00001
|
|
NM_016169.4(SUFU):c.975A>G (p.Pro325=)
|
rs1045258578
|
0.00001
|
|
NM_016169.4(SUFU):c.979A>G (p.Ile327Val)
|
rs752846043
|
0.00001
|
|
NM_016169.4(SUFU):c.987T>C (p.Pro329=)
|
rs906267027
|
0.00001
|
|
NM_016169.4(SUFU):c.98G>C (p.Gly33Ala)
|
rs1391787041
|
0.00001
|
|
NM_016169.4(SUFU):c.994C>G (p.Gln332Glu)
|
rs747125633
|
0.00001
|
|
NM_016169.4(SUFU):c.9G>A (p.Glu3=)
|
rs561651427
|
0.00001
|
|
NM_016373.4(WWOX):c.1010T>C (p.Val337Ala)
|
rs1170717426
|
0.00001
|
|
NM_016373.4(WWOX):c.1038G>T (p.Arg346Ser)
|
rs781040616
|
0.00001
|
|
NM_016373.4(WWOX):c.1042T>G (p.Phe348Val)
|
rs768904294
|
0.00001
|
|
NM_016373.4(WWOX):c.1054A>G (p.Met352Val)
|
rs575317950
|
0.00001
|
|
NM_016373.4(WWOX):c.1057-18T>G
|
rs780546419
|
0.00001
|
|
NM_016373.4(WWOX):c.107+12G>T
|
rs753626622
|
0.00001
|
|
NM_016373.4(WWOX):c.107+16T>G
|
rs1313734754
|
0.00001
|
|
NM_016373.4(WWOX):c.107+6G>A
|
rs1276657647
|
0.00001
|
|
NM_016373.4(WWOX):c.108-3C>T
|
rs1163967827
|
0.00001
|
|
NM_016373.4(WWOX):c.1085G>A (p.Cys362Tyr)
|
rs778218106
|
0.00001
|
|
NM_016373.4(WWOX):c.1088C>G (p.Ala363Gly)
|
rs2051755192
|
0.00001
|
|
NM_016373.4(WWOX):c.1107G>A (p.Glu369=)
|
rs369673368
|
0.00001
|
|
NM_016373.4(WWOX):c.1108G>A (p.Gly370Ser)
|
rs770628801
|
0.00001
|
|
NM_016373.4(WWOX):c.1122G>A (p.Met374Ile)
|
rs775460117
|
0.00001
|
|
NM_016373.4(WWOX):c.1139G>A (p.Cys380Tyr)
|
rs758746365
|
0.00001
|
|
NM_016373.4(WWOX):c.1143C>T (p.Arg381=)
|
rs1427739406
|
0.00001
|
|
NM_016373.4(WWOX):c.1150C>T (p.Pro384Ser)
|
rs544760115
|
0.00001
|
|
NM_016373.4(WWOX):c.1158A>G (p.Pro386=)
|
rs755586346
|
0.00001
|
|
NM_016373.4(WWOX):c.1160A>G (p.Glu387Gly)
|
rs1316600993
|
0.00001
|
|
NM_016373.4(WWOX):c.117G>A (p.Glu39=)
|
rs368245025
|
0.00001
|
|
NM_016373.4(WWOX):c.1195G>A (p.Ala399Thr)
|
rs375970162
|
0.00001
|
|
NM_016373.4(WWOX):c.1205A>G (p.Glu402Gly)
|
rs2051763292
|
0.00001
|
|
NM_016373.4(WWOX):c.1206G>C (p.Glu402Asp)
|
rs923748427
|
0.00001
|
|
NM_016373.4(WWOX):c.1216C>T (p.Gln406Ter)
|
rs1197462916
|
0.00001
|
|
NM_016373.4(WWOX):c.1226T>C (p.Leu409Pro)
|
rs368397011
|
0.00001
|
|
NM_016373.4(WWOX):c.1227T>C (p.Leu409=)
|
rs1370851633
|
0.00001
|
|
NM_016373.4(WWOX):c.172+7A>G
|
rs1307853735
|
0.00001
|
|
NM_016373.4(WWOX):c.173-9G>A
|
rs768579025
|
0.00001
|
|
NM_016373.4(WWOX):c.177G>C (p.Leu59Phe)
|
rs771850922
|
0.00001
|
|
NM_016373.4(WWOX):c.184G>A (p.Gly62Arg)
|
rs775696083
|
0.00001
|
|
NM_016373.4(WWOX):c.193C>A (p.Gln65Lys)
|
rs558101281
|
0.00001
|
|
NM_016373.4(WWOX):c.211G>A (p.Gly71Arg)
|
rs767880120
|
0.00001
|
|
NM_016373.4(WWOX):c.216A>G (p.Gln72=)
|
rs754962104
|
0.00001
|
|
NM_016373.4(WWOX):c.222T>C (p.Phe74=)
|
rs748079925
|
0.00001
|
|
NM_016373.4(WWOX):c.228T>C (p.Val76=)
|
rs370579498
|
0.00001
|
|
NM_016373.4(WWOX):c.231-20C>G
|
rs768620458
|
0.00001
|
|
NM_016373.4(WWOX):c.231-6G>T
|
rs987981847
|
0.00001
|
|
NM_016373.4(WWOX):c.24G>A (p.Gly8=)
|
rs960284644
|
0.00001
|
|
NM_016373.4(WWOX):c.273G>A (p.Ala91=)
|
rs778288592
|
0.00001
|
|
NM_016373.4(WWOX):c.286G>A (p.Asp96Asn)
|
rs1461547362
|
0.00001
|
|
NM_016373.4(WWOX):c.287A>G (p.Asp96Gly)
|
rs776969977
|
0.00001
|
|
NM_016373.4(WWOX):c.28G>C (p.Asp10His)
|
rs781180473
|
0.00001
|
|
NM_016373.4(WWOX):c.303A>G (p.Pro101=)
|
rs761783544
|
0.00001
|
|
NM_016373.4(WWOX):c.325G>A (p.Gly109Ser)
|
rs770001837
|
0.00001
|
|
NM_016373.4(WWOX):c.372C>A (p.Gly124=)
|
rs1427515892
|
0.00001
|
|
NM_016373.4(WWOX):c.379G>A (p.Val127Ile)
|
rs1183597678
|
0.00001
|
|
NM_016373.4(WWOX):c.385G>C (p.Val129Leu)
|
rs781732002
|
0.00001
|
|
NM_016373.4(WWOX):c.409+5G>A
|
rs1305123836
|
0.00001
|
|
NM_016373.4(WWOX):c.409+6C>G
|
rs780224603
|
0.00001
|
|
NM_016373.4(WWOX):c.410-19A>G
|
rs201778955
|
0.00001
|
|
NM_016373.4(WWOX):c.49G>A (p.Glu17Lys)
|
rs780345312
|
0.00001
|
|
NM_016373.4(WWOX):c.500G>A (p.Arg167His)
|
rs377356629
|
0.00001
|
|
NM_016373.4(WWOX):c.516+3A>G
|
rs200058019
|
0.00001
|
|
NM_016373.4(WWOX):c.518A>G (p.His173Arg)
|
rs770595933
|
0.00001
|
|
NM_016373.4(WWOX):c.51G>T (p.Glu17Asp)
|
rs991773402
|
0.00001
|
|
NM_016373.4(WWOX):c.538A>G (p.Met180Val)
|
rs569297468
|
0.00001
|
|
NM_016373.4(WWOX):c.553G>A (p.Ala185Thr)
|
rs778951309
|
0.00001
|
|
NM_016373.4(WWOX):c.566G>A (p.Ser189Asn)
|
rs776354746
|
0.00001
|
|
NM_016373.4(WWOX):c.567C>T (p.Ser189=)
|
rs201593515
|
0.00001
|
|
NM_016373.4(WWOX):c.579T>C (p.Phe193=)
|
rs554077107
|
0.00001
|
|
NM_016373.4(WWOX):c.586G>A (p.Ala196Thr)
|
rs370367979
|
0.00001
|
|
NM_016373.4(WWOX):c.599A>G (p.Lys200Arg)
|
rs1011606866
|
0.00001
|
|
NM_016373.4(WWOX):c.59C>T (p.Pro20Leu)
|
rs761638116
|
0.00001
|
|
NM_016373.4(WWOX):c.605+10C>G
|
rs201186695
|
0.00001
|
|
NM_016373.4(WWOX):c.605+11C>T
|
rs1271857180
|
0.00001
|
|
NM_016373.4(WWOX):c.605+19G>A
|
rs199843934
|
0.00001
|
|
NM_016373.4(WWOX):c.605+5G>A
|
rs1039151413
|
0.00001
|
|
NM_016373.4(WWOX):c.606-16A>G
|
rs139257288
|
0.00001
|
|
NM_016373.4(WWOX):c.631G>A (p.Ala211Thr)
|
rs370737224
|
0.00001
|
|
NM_016373.4(WWOX):c.647T>C (p.Leu216Pro)
|
rs1385370021
|
0.00001
|
|
NM_016373.4(WWOX):c.656G>A (p.Ser219Asn)
|
rs367599412
|
0.00001
|
|
NM_016373.4(WWOX):c.666A>C (p.Lys222Asn)
|
rs982171635
|
0.00001
|
|
NM_016373.4(WWOX):c.667G>A (p.Asp223Asn)
|
rs768734917
|
0.00001
|
|
NM_016373.4(WWOX):c.670G>A (p.Gly224Ser)
|
rs1349025177
|
0.00001
|
|
NM_016373.4(WWOX):c.678G>A (p.Glu226=)
|
rs750905852
|
0.00001
|
|
NM_016373.4(WWOX):c.691G>C (p.Val231Leu)
|
rs755974419
|
0.00001
|
|
NM_016373.4(WWOX):c.698A>T (p.His233Leu)
|
rs1266205670
|
0.00001
|
|
NM_016373.4(WWOX):c.704G>T (p.Gly235Val)
|
rs1169887175
|
0.00001
|
|
NM_016373.4(WWOX):c.708C>G (p.His236Gln)
|
rs745681407
|
0.00001
|
|
NM_016373.4(WWOX):c.715C>G (p.Leu239Val)
|
rs575080327
|
0.00001
|
|
NM_016373.4(WWOX):c.737T>C (p.Val246Ala)
|
rs200966505
|
0.00001
|
|
NM_016373.4(WWOX):c.763G>A (p.Val255Ile)
|
rs765590833
|
0.00001
|
|
NM_016373.4(WWOX):c.766A>G (p.Ile256Val)
|
rs1023419687
|
0.00001
|
|
NM_016373.4(WWOX):c.78C>T (p.Thr26=)
|
rs761493229
|
0.00001
|
|
NM_016373.4(WWOX):c.791+11A>G
|
rs779754174
|
0.00001
|
|
NM_016373.4(WWOX):c.812C>T (p.Ser271Phe)
|
rs758222414
|
0.00001
|
|
NM_016373.4(WWOX):c.818G>A (p.Gly273Glu)
|
rs756228469
|
0.00001
|
|
NM_016373.4(WWOX):c.828C>G (p.Asp276Glu)
|
rs372225190
|
0.00001
|
|
NM_016373.4(WWOX):c.82A>C (p.Lys28Gln)
|
rs771726317
|
0.00001
|
|
NM_016373.4(WWOX):c.843T>A (p.Ser281=)
|
rs367855242
|
0.00001
|
|
NM_016373.4(WWOX):c.848C>A (p.Thr283Lys)
|
rs1186552961
|
0.00001
|
|
NM_016373.4(WWOX):c.860A>G (p.Tyr287Cys)
|
rs369890118
|
0.00001
|
|
NM_016373.4(WWOX):c.866C>T (p.Ala289Val)
|
rs753894507
|
0.00001
|
|
NM_016373.4(WWOX):c.870G>A (p.Met290Ile)
|
rs199809390
|
0.00001
|
|
NM_016373.4(WWOX):c.880A>G (p.Asn294Asp)
|
rs775585652
|
0.00001
|
|
NM_016373.4(WWOX):c.887C>G (p.Ser296Cys)
|
rs1385421754
|
0.00001
|
|
NM_016373.4(WWOX):c.906C>T (p.Leu302=)
|
rs377404672
|
0.00001
|
|
NM_016373.4(WWOX):c.914A>G (p.Asn305Ser)
|
rs1224888299
|
0.00001
|
|
NM_016373.4(WWOX):c.916G>A (p.Glu306Lys)
|
rs1326472012
|
0.00001
|
|
NM_016373.4(WWOX):c.937C>G (p.Pro313Ala)
|
rs370345936
|
0.00001
|
|
NM_016373.4(WWOX):c.940C>T (p.Arg314Cys)
|
rs781683643
|
0.00001
|
|
NM_016373.4(WWOX):c.945G>A (p.Gly315=)
|
rs1232491002
|
0.00001
|
|
NM_016373.4(WWOX):c.947T>C (p.Val316Ala)
|
rs1476364680
|
0.00001
|
|
NM_016373.4(WWOX):c.948C>G (p.Val316=)
|
rs201986739
|
0.00001
|
|
NM_016373.4(WWOX):c.954G>A (p.Ser318=)
|
rs971458936
|
0.00001
|
|
NM_016373.4(WWOX):c.971G>A (p.Gly324Glu)
|
rs766163069
|
0.00001
|
|
NM_016373.4(WWOX):c.980T>C (p.Met327Thr)
|
rs1567570484
|
0.00001
|
|
NM_016373.4(WWOX):c.989A>G (p.Asn330Ser)
|
rs746833923
|
0.00001
|
|
NM_016373.4(WWOX):c.999C>T (p.Arg333=)
|
rs774462234
|
0.00001
|
|
NM_016373.4(WWOX):c.99C>T (p.Tyr33=)
|
rs760762887
|
0.00001
|
|
NM_016373.4(WWOX):c.9G>C (p.Ala3=)
|
rs778036247
|
0.00001
|
|
NM_016464.5(TMEM138):c.128+5G>A
|
rs917404097
|
0.00001
|
|
NM_016464.5(TMEM138):c.129-18T>A
|
rs1181378192
|
0.00001
|
|
NM_016464.5(TMEM138):c.129-20A>T
|
rs1477684645
|
0.00001
|
|
NM_016464.5(TMEM138):c.129-8G>T
|
rs1438561210
|
0.00001
|
|
NM_016464.5(TMEM138):c.203C>A (p.Ala68Asp)
|
rs766349558
|
0.00001
|
|
NM_016464.5(TMEM138):c.248T>C (p.Ile83Thr)
|
rs767361822
|
0.00001
|
|
NM_016464.5(TMEM138):c.276C>T (p.Ser92=)
|
rs756828257
|
0.00001
|
|
NM_016464.5(TMEM138):c.300+17G>A
|
rs1858147311
|
0.00001
|
|
NM_016464.5(TMEM138):c.301-9C>A
|
rs764884921
|
0.00001
|
|
NM_016464.5(TMEM138):c.308G>A (p.Arg103His)
|
rs781769843
|
0.00001
|
|
NM_016464.5(TMEM138):c.392G>C (p.Cys131Ser)
|
rs934639615
|
0.00001
|
|
NM_016464.5(TMEM138):c.420A>G (p.Arg140=)
|
rs548368196
|
0.00001
|
|
NM_016464.5(TMEM138):c.482G>A (p.Arg161Gln)
|
rs569659022
|
0.00001
|
|
NM_016464.5(TMEM138):c.74A>G (p.Asn25Ser)
|
rs775913576
|
0.00001
|
|
NM_016464.5(TMEM138):c.94C>T (p.Gln32Ter)
|
rs146264153
|
0.00001
|
|
NM_018718.3(CEP41):c.1004G>A (p.Arg335Lys)
|
rs782672149
|
0.00001
|
|
NM_018718.3(CEP41):c.1028G>A (p.Arg343Gln)
|
rs782089459
|
0.00001
|
|
NM_018718.3(CEP41):c.1053C>T (p.Gly351=)
|
rs782191360
|
0.00001
|
|
NM_018718.3(CEP41):c.1054G>A (p.Gly352Ser)
|
rs782590600
|
0.00001
|
|
NM_018718.3(CEP41):c.1061C>T (p.Ala354Val)
|
rs781832103
|
0.00001
|
|
NM_018718.3(CEP41):c.1081T>C (p.Ser361Pro)
|
rs587780311
|
0.00001
|
|
NM_018718.3(CEP41):c.1087A>G (p.Ser363Gly)
|
rs201504407
|
0.00001
|
|
NM_018718.3(CEP41):c.145+3A>G
|
rs782008140
|
0.00001
|
|
NM_018718.3(CEP41):c.145+5G>A
|
rs1413177096
|
0.00001
|
|
NM_018718.3(CEP41):c.146-18T>C
|
rs202065857
|
0.00001
|
|
NM_018718.3(CEP41):c.157A>G (p.Lys53Glu)
|
rs1554419921
|
0.00001
|
|
NM_018718.3(CEP41):c.164A>T (p.Asp55Val)
|
rs782776244
|
0.00001
|
|
NM_018718.3(CEP41):c.165T>C (p.Asp55=)
|
rs782085186
|
0.00001
|
|
NM_018718.3(CEP41):c.186A>G (p.Lys62=)
|
rs1797202624
|
0.00001
|
|
NM_018718.3(CEP41):c.200C>T (p.Ala67Val)
|
rs782426353
|
0.00001
|
|
NM_018718.3(CEP41):c.208-17A>G
|
rs1374383852
|
0.00001
|
|
NM_018718.3(CEP41):c.278-1G>A
|
rs1796956272
|
0.00001
|
|
NM_018718.3(CEP41):c.278A>G (p.Asp93Gly)
|
rs1554417870
|
0.00001
|
|
NM_018718.3(CEP41):c.308C>T (p.Ala103Val)
|
rs369687508
|
0.00001
|
|
NM_018718.3(CEP41):c.384C>T (p.Asn128=)
|
rs374535389
|
0.00001
|
|
NM_018718.3(CEP41):c.423-8A>G
|
rs1796893817
|
0.00001
|
|
NM_018718.3(CEP41):c.565A>G (p.Ile189Val)
|
rs782591147
|
0.00001
|
|
NM_018718.3(CEP41):c.637G>A (p.Glu213Lys)
|
rs782466306
|
0.00001
|
|
NM_018718.3(CEP41):c.643-12T>C
|
rs782521409
|
0.00001
|
|
NM_018718.3(CEP41):c.678C>T (p.Asp226=)
|
rs545406161
|
0.00001
|
|
NM_018718.3(CEP41):c.696C>T (p.Ala232=)
|
rs1796819118
|
0.00001
|
|
NM_018718.3(CEP41):c.705G>A (p.Ala235=)
|
rs149052906
|
0.00001
|
|
NM_018718.3(CEP41):c.724C>T (p.Arg242Cys)
|
rs1554416667
|
0.00001
|
|
NM_018718.3(CEP41):c.741C>T (p.Leu247=)
|
rs781822221
|
0.00001
|
|
NM_018718.3(CEP41):c.753C>T (p.Ser251=)
|
rs200612684
|
0.00001
|
|
NM_018718.3(CEP41):c.826C>G (p.Gln276Glu)
|
rs782815662
|
0.00001
|
|
NM_018718.3(CEP41):c.850C>T (p.Arg284Trp)
|
rs782729874
|
0.00001
|
|
NM_018718.3(CEP41):c.929T>A (p.Ile310Lys)
|
rs782435349
|
0.00001
|
|
NM_018718.3(CEP41):c.971C>T (p.Pro324Leu)
|
rs782474335
|
0.00001
|
|
NM_018718.3(CEP41):c.973+11T>C
|
rs781847285
|
0.00001
|
|
NM_018718.3(CEP41):c.973+15C>T
|
rs979158941
|
0.00001
|
|
NM_018718.3(CEP41):c.974-8C>T
|
rs367692258
|
0.00001
|
|
NM_018718.3(CEP41):c.976C>T (p.Arg326Ter)
|
rs782286004
|
0.00001
|
|
NM_022464.5(SIL1):c.1005G>A (p.Leu335=)
|
rs751082361
|
0.00001
|
|
NM_022464.5(SIL1):c.1115G>A (p.Gly372Asp)
|
rs727504153
|
0.00001
|
|
NM_022464.5(SIL1):c.1347G>A (p.Leu449=)
|
rs1458642130
|
0.00001
|
|
NM_022464.5(SIL1):c.599A>G (p.Glu200Gly)
|
rs879437180
|
0.00001
|
|
NM_022464.5(SIL1):c.648G>C (p.Met216Ile)
|
rs538181924
|
0.00001
|
|
NM_022464.5(SIL1):c.69C>T (p.Ala23=)
|
rs756893810
|
0.00001
|
|
NM_022464.5(SIL1):c.741G>A (p.Ala247=)
|
rs773520401
|
0.00001
|
|
NM_022464.5(SIL1):c.795C>T (p.Ile265=)
|
rs746589509
|
0.00001
|
|
NM_022464.5(SIL1):c.807C>T (p.Ala269=)
|
rs200359743
|
0.00001
|
|
NM_182961.4(SYNE1):c.10060G>C (p.Glu3354Gln)
|
rs773410652
|
0.00001
|
|
NM_182961.4(SYNE1):c.10093A>G (p.Ser3365Gly)
|
rs545457219
|
0.00001
|
|
NM_182961.4(SYNE1):c.10178G>A (p.Ser3393Asn)
|
rs1221490895
|
0.00001
|
|
NM_182961.4(SYNE1):c.10196G>A (p.Arg3399Gln)
|
rs368647352
|
0.00001
|
|
NM_182961.4(SYNE1):c.10206C>T (p.Ser3402=)
|
rs1158144490
|
0.00001
|
|
NM_182961.4(SYNE1):c.10223T>A (p.Met3408Lys)
|
rs1212823311
|
0.00001
|
|
NM_182961.4(SYNE1):c.1027A>G (p.Asn343Asp)
|
rs1289374962
|
0.00001
|
|
NM_182961.4(SYNE1):c.1028A>G (p.Asn343Ser)
|
rs372451128
|
0.00001
|
|
NM_182961.4(SYNE1):c.10318C>T (p.Leu3440=)
|
rs997731221
|
0.00001
|
|
NM_182961.4(SYNE1):c.10366A>G (p.Met3456Val)
|
rs1270266905
|
0.00001
|
|
NM_182961.4(SYNE1):c.10415G>A (p.Arg3472Gln)
|
rs1255278240
|
0.00001
|
|
NM_182961.4(SYNE1):c.10449C>T (p.Ala3483=)
|
rs759403120
|
0.00001
|
|
NM_182961.4(SYNE1):c.10471G>A (p.Val3491Ile)
|
rs886043016
|
0.00001
|
|
NM_182961.4(SYNE1):c.10608+20A>G
|
rs370822005
|
0.00001
|
|
NM_182961.4(SYNE1):c.10608G>A (p.Gln3536=)
|
rs1246237055
|
0.00001
|
|
NM_182961.4(SYNE1):c.10620A>G (p.Val3540=)
|
rs1308068026
|
0.00001
|
|
NM_182961.4(SYNE1):c.1063A>G (p.Arg355Gly)
|
rs149532009
|
0.00001
|
|
NM_182961.4(SYNE1):c.10669G>A (p.Glu3557Lys)
|
rs1485693688
|
0.00001
|
|
NM_182961.4(SYNE1):c.10709G>A (p.Arg3570Gln)
|
rs751191478
|
0.00001
|
|
NM_182961.4(SYNE1):c.10750C>T (p.His3584Tyr)
|
rs752209637
|
0.00001
|
|
NM_182961.4(SYNE1):c.10789G>T (p.Val3597Leu)
|
rs1301268425
|
0.00001
|
|
NM_182961.4(SYNE1):c.10799T>C (p.Leu3600Ser)
|
rs1444678849
|
0.00001
|
|
NM_182961.4(SYNE1):c.10836A>G (p.Glu3612=)
|
rs147021971
|
0.00001
|
|
NM_182961.4(SYNE1):c.10927-18G>A
|
rs759603128
|
0.00001
|
|
NM_182961.4(SYNE1):c.10953C>T (p.Tyr3651=)
|
rs779741109
|
0.00001
|
|
NM_182961.4(SYNE1):c.1097A>C (p.Glu366Ala)
|
rs372327585
|
0.00001
|
|
NM_182961.4(SYNE1):c.11083-8T>C
|
rs752554466
|
0.00001
|
|
NM_182961.4(SYNE1):c.11083-9C>T
|
rs758255035
|
0.00001
|
|
NM_182961.4(SYNE1):c.1110A>G (p.Gln370=)
|
rs756294096
|
0.00001
|
|
NM_182961.4(SYNE1):c.11179A>C (p.Asn3727His)
|
rs758415122
|
0.00001
|
|
NM_182961.4(SYNE1):c.11202G>C (p.Lys3734Asn)
|
rs761089261
|
0.00001
|
|
NM_182961.4(SYNE1):c.11238A>G (p.Lys3746=)
|
rs149393972
|
0.00001
|
|
NM_182961.4(SYNE1):c.11285G>A (p.Ser3762Asn)
|
rs780889581
|
0.00001
|
|
NM_182961.4(SYNE1):c.11412C>T (p.Val3804=)
|
rs777170937
|
0.00001
|
|
NM_182961.4(SYNE1):c.11413C>T (p.Arg3805Trp)
|
rs572106956
|
0.00001
|
|
NM_182961.4(SYNE1):c.11490G>A (p.Gln3830=)
|
rs746623465
|
0.00001
|
|
NM_182961.4(SYNE1):c.11496A>G (p.Ile3832Met)
|
rs1554518035
|
0.00001
|
|
NM_182961.4(SYNE1):c.11581-19T>C
|
rs1193068464
|
0.00001
|
|
NM_182961.4(SYNE1):c.11659G>C (p.Val3887Leu)
|
rs753931727
|
0.00001
|
|
NM_182961.4(SYNE1):c.11706T>A (p.Asp3902Glu)
|
rs775097525
|
0.00001
|
|
NM_182961.4(SYNE1):c.11726T>C (p.Ile3909Thr)
|
rs772794050
|
0.00001
|
|
NM_182961.4(SYNE1):c.11729G>A (p.Gly3910Glu)
|
rs373095359
|
0.00001
|
|
NM_182961.4(SYNE1):c.11970G>A (p.Leu3990=)
|
rs960254266
|
0.00001
|
|
NM_182961.4(SYNE1):c.12039A>C (p.Thr4013=)
|
rs1190890349
|
0.00001
|
|
NM_182961.4(SYNE1):c.12079-4T>C
|
rs749035276
|
0.00001
|
|
NM_182961.4(SYNE1):c.12100G>A (p.Glu4034Lys)
|
rs746532554
|
0.00001
|
|
NM_182961.4(SYNE1):c.12127G>A (p.Asp4043Asn)
|
rs369515853
|
0.00001
|
|
NM_182961.4(SYNE1):c.12128A>G (p.Asp4043Gly)
|
rs761744256
|
0.00001
|
|
NM_182961.4(SYNE1):c.12171G>A (p.Pro4057=)
|
rs112128801
|
0.00001
|
|
NM_182961.4(SYNE1):c.12181C>T (p.Pro4061Ser)
|
rs780777858
|
0.00001
|
|
NM_182961.4(SYNE1):c.12217A>G (p.Ile4073Val)
|
rs886044158
|
0.00001
|
|
NM_182961.4(SYNE1):c.12226G>A (p.Val4076Ile)
|
rs754971865
|
0.00001
|
|
NM_182961.4(SYNE1):c.12266A>T (p.Tyr4089Phe)
|
rs1294787806
|
0.00001
|
|
NM_182961.4(SYNE1):c.12272A>G (p.Asp4091Gly)
|
rs767294741
|
0.00001
|
|
NM_182961.4(SYNE1):c.1228C>G (p.Pro410Ala)
|
rs770374751
|
0.00001
|
|
NM_182961.4(SYNE1):c.12302A>G (p.Asn4101Ser)
|
rs1201675371
|
0.00001
|
|
NM_182961.4(SYNE1):c.12308C>T (p.Ser4103Leu)
|
rs376766873
|
0.00001
|
|
NM_182961.4(SYNE1):c.12352-19A>G
|
rs535649438
|
0.00001
|
|
NM_182961.4(SYNE1):c.12422A>C (p.Glu4141Ala)
|
rs1449281199
|
0.00001
|
|
NM_182961.4(SYNE1):c.1242A>G (p.Ile414Met)
|
rs2098918498
|
0.00001
|
|
NM_182961.4(SYNE1):c.12435C>T (p.Tyr4145=)
|
rs1167024658
|
0.00001
|
|
NM_182961.4(SYNE1):c.1244G>A (p.Gly415Asp)
|
rs1459930095
|
0.00001
|
|
NM_182961.4(SYNE1):c.12499A>G (p.Ile4167Val)
|
rs769992083
|
0.00001
|
|
NM_182961.4(SYNE1):c.12541A>C (p.Lys4181Gln)
|
rs2096324088
|
0.00001
|
|
NM_182961.4(SYNE1):c.12687C>T (p.Cys4229=)
|
rs755451612
|
0.00001
|
|
NM_182961.4(SYNE1):c.12713G>C (p.Arg4238Thr)
|
rs537532640
|
0.00001
|
|
NM_182961.4(SYNE1):c.12790G>A (p.Ala4264Thr)
|
rs745331052
|
0.00001
|
|
NM_182961.4(SYNE1):c.12794+18A>T
|
rs780721542
|
0.00001
|
|
NM_182961.4(SYNE1):c.12829G>A (p.Ala4277Thr)
|
rs200140440
|
0.00001
|
|
NM_182961.4(SYNE1):c.12832T>C (p.Leu4278=)
|
rs749626940
|
0.00001
|
|
NM_182961.4(SYNE1):c.12844G>C (p.Ala4282Pro)
|
rs1384390262
|
0.00001
|
|
NM_182961.4(SYNE1):c.12883C>T (p.Leu4295=)
|
rs781279526
|
0.00001
|
|
NM_182961.4(SYNE1):c.12889G>A (p.Asp4297Asn)
|
rs757271177
|
0.00001
|
|
NM_182961.4(SYNE1):c.12901A>G (p.Lys4301Glu)
|
rs751661906
|
0.00001
|
|
NM_182961.4(SYNE1):c.12908T>A (p.Ile4303Lys)
|
rs752624372
|
0.00001
|
|
NM_182961.4(SYNE1):c.12954G>A (p.Thr4318=)
|
rs968884551
|
0.00001
|
|
NM_182961.4(SYNE1):c.12985G>A (p.Glu4329Lys)
|
rs752661205
|
0.00001
|
|
NM_182961.4(SYNE1):c.1299G>A (p.Gln433=)
|
rs1224893756
|
0.00001
|
|
NM_182961.4(SYNE1):c.13032G>A (p.Glu4344=)
|
rs1053180393
|
0.00001
|
|
NM_182961.4(SYNE1):c.1304A>G (p.His435Arg)
|
rs543437113
|
0.00001
|
|
NM_182961.4(SYNE1):c.13050G>T (p.Gln4350His)
|
rs34464554
|
0.00001
|
|
NM_182961.4(SYNE1):c.13094C>A (p.Pro4365His)
|
rs779970152
|
0.00001
|
|
NM_182961.4(SYNE1):c.13099A>G (p.Ile4367Val)
|
rs1157664680
|
0.00001
|
|
NM_182961.4(SYNE1):c.13100T>C (p.Ile4367Thr)
|
rs371405185
|
0.00001
|
|
NM_182961.4(SYNE1):c.13231G>T (p.Val4411Phe)
|
rs768553487
|
0.00001
|
|
NM_182961.4(SYNE1):c.13258C>T (p.Arg4420Ter)
|
rs752224921
|
0.00001
|
|
NM_182961.4(SYNE1):c.13310T>C (p.Leu4437Pro)
|
rs745789075
|
0.00001
|
|
NM_182961.4(SYNE1):c.13320A>G (p.Leu4440=)
|
rs374787261
|
0.00001
|
|
NM_182961.4(SYNE1):c.13368C>T (p.Thr4456=)
|
rs141847989
|
0.00001
|
|
NM_182961.4(SYNE1):c.13433T>C (p.Phe4478Ser)
|
rs886042314
|
0.00001
|
|
NM_182961.4(SYNE1):c.13435C>T (p.Arg4479Cys)
|
rs778601377
|
0.00001
|
|
NM_182961.4(SYNE1):c.13467G>A (p.Val4489=)
|
rs1166201006
|
0.00001
|
|
NM_182961.4(SYNE1):c.13476A>G (p.Gln4492=)
|
rs758900989
|
0.00001
|
|
NM_182961.4(SYNE1):c.1350+13G>A
|
rs994953289
|
0.00001
|
|
NM_182961.4(SYNE1):c.13555G>A (p.Glu4519Lys)
|
rs571224180
|
0.00001
|
|
NM_182961.4(SYNE1):c.13573A>G (p.Thr4525Ala)
|
rs909205583
|
0.00001
|
|
NM_182961.4(SYNE1):c.13580A>G (p.Gln4527Arg)
|
rs747550581
|
0.00001
|
|
NM_182961.4(SYNE1):c.13684G>A (p.Val4562Ile)
|
rs973116936
|
0.00001
|
|
NM_182961.4(SYNE1):c.13695G>A (p.Lys4565=)
|
rs530630718
|
0.00001
|
|
NM_182961.4(SYNE1):c.13710T>C (p.Asp4570=)
|
rs563207771
|
0.00001
|
|
NM_182961.4(SYNE1):c.13827T>G (p.Leu4609=)
|
rs1415812565
|
0.00001
|
|
NM_182961.4(SYNE1):c.13832A>C (p.Gln4611Pro)
|
rs762392590
|
0.00001
|
|
NM_182961.4(SYNE1):c.13895C>T (p.Ser4632Leu)
|
rs377099959
|
0.00001
|
|
NM_182961.4(SYNE1):c.13901A>G (p.Asn4634Ser)
|
rs1362233016
|
0.00001
|
|
NM_182961.4(SYNE1):c.13952A>T (p.Gln4651Leu)
|
rs374697325
|
0.00001
|
|
NM_182961.4(SYNE1):c.13989C>A (p.Phe4663Leu)
|
rs1166869172
|
0.00001
|
|
NM_182961.4(SYNE1):c.13991A>G (p.Tyr4664Cys)
|
rs367979558
|
0.00001
|
|
NM_182961.4(SYNE1):c.1402C>T (p.Arg468Trp)
|
rs1469601635
|
0.00001
|
|
NM_182961.4(SYNE1):c.14140G>A (p.Asp4714Asn)
|
rs765759628
|
0.00001
|
|
NM_182961.4(SYNE1):c.1414G>A (p.Val472Ile)
|
rs952688216
|
0.00001
|
|
NM_182961.4(SYNE1):c.14152G>A (p.Ala4718Thr)
|
rs759856569
|
0.00001
|
|
NM_182961.4(SYNE1):c.14187G>A (p.Ala4729=)
|
rs886042872
|
0.00001
|
|
NM_182961.4(SYNE1):c.14189T>A (p.Val4730Glu)
|
rs141752799
|
0.00001
|
|
NM_182961.4(SYNE1):c.141A>G (p.Pro47=)
|
rs551171550
|
0.00001
|
|
NM_182961.4(SYNE1):c.14225G>A (p.Ser4742Asn)
|
rs763637795
|
0.00001
|
|
NM_182961.4(SYNE1):c.14274A>G (p.Leu4758=)
|
rs1454377562
|
0.00001
|
|
NM_182961.4(SYNE1):c.14341C>G (p.Gln4781Glu)
|
rs750831528
|
0.00001
|
|
NM_182961.4(SYNE1):c.14365C>G (p.Gln4789Glu)
|
rs764205112
|
0.00001
|
|
NM_182961.4(SYNE1):c.14463G>A (p.Leu4821=)
|
rs758516967
|
0.00001
|
|
NM_182961.4(SYNE1):c.14485G>A (p.Gly4829Arg)
|
rs1278211656
|
0.00001
|
|
NM_182961.4(SYNE1):c.14500C>T (p.Arg4834Ter)
|
rs766129413
|
0.00001
|
|
NM_182961.4(SYNE1):c.14530C>A (p.Pro4844Thr)
|
rs747838657
|
0.00001
|
|
NM_182961.4(SYNE1):c.14561C>T (p.Ala4854Val)
|
rs931699788
|
0.00001
|
|
NM_182961.4(SYNE1):c.14565G>C (p.Arg4855Ser)
|
rs1237053788
|
0.00001
|
|
NM_182961.4(SYNE1):c.14628G>A (p.Val4876=)
|
rs772957773
|
0.00001
|
|
NM_182961.4(SYNE1):c.14634A>C (p.Glu4878Asp)
|
rs1159750019
|
0.00001
|
|
NM_182961.4(SYNE1):c.14670G>C (p.Gln4890His)
|
rs150266354
|
0.00001
|
|
NM_182961.4(SYNE1):c.14722A>C (p.Ser4908Arg)
|
rs750417575
|
0.00001
|
|
NM_182961.4(SYNE1):c.14758A>T (p.Ile4920Phe)
|
rs555355654
|
0.00001
|
|
NM_182961.4(SYNE1):c.14833A>C (p.Ser4945Arg)
|
rs2096203231
|
0.00001
|
|
NM_182961.4(SYNE1):c.1486T>A (p.Ser496Thr)
|
rs1392726878
|
0.00001
|
|
NM_182961.4(SYNE1):c.14948C>T (p.Thr4983Ile)
|
rs765961446
|
0.00001
|
|
NM_182961.4(SYNE1):c.14955G>C (p.Gln4985His)
|
rs890021376
|
0.00001
|
|
NM_182961.4(SYNE1):c.14975A>G (p.Tyr4992Cys)
|
rs753602210
|
0.00001
|
|
NM_182961.4(SYNE1):c.15057A>G (p.Ala5019=)
|
rs1462308045
|
0.00001
|
|
NM_182961.4(SYNE1):c.15072C>T (p.Asp5024=)
|
rs772100783
|
0.00001
|
|
NM_182961.4(SYNE1):c.15106A>G (p.Met5036Val)
|
rs755539687
|
0.00001
|
|
NM_182961.4(SYNE1):c.15124G>C (p.Glu5042Gln)
|
rs533927341
|
0.00001
|
|
NM_182961.4(SYNE1):c.15165G>C (p.Leu5055=)
|
rs760844118
|
0.00001
|
|
NM_182961.4(SYNE1):c.15197C>G (p.Thr5066Ser)
|
rs373690809
|
0.00001
|
|
NM_182961.4(SYNE1):c.15198C>T (p.Thr5066=)
|
rs370314344
|
0.00001
|
|
NM_182961.4(SYNE1):c.15245G>A (p.Ser5082Asn)
|
rs760935405
|
0.00001
|
|
NM_182961.4(SYNE1):c.15294-16G>A
|
rs762945450
|
0.00001
|
|
NM_182961.4(SYNE1):c.15330G>A (p.Arg5110=)
|
rs780437149
|
0.00001
|
|
NM_182961.4(SYNE1):c.15366G>T (p.Lys5122Asn)
|
rs764169067
|
0.00001
|
|
NM_182961.4(SYNE1):c.15370T>C (p.Leu5124=)
|
rs758423743
|
0.00001
|
|
NM_182961.4(SYNE1):c.15398C>T (p.Ser5133Leu)
|
rs771550432
|
0.00001
|
|
NM_182961.4(SYNE1):c.1544T>A (p.Leu515Gln)
|
rs544309811
|
0.00001
|
|
NM_182961.4(SYNE1):c.15557C>A (p.Thr5186Asn)
|
rs768676733
|
0.00001
|
|
NM_182961.4(SYNE1):c.15587G>A (p.Arg5196Gln)
|
rs752229373
|
0.00001
|
|
NM_182961.4(SYNE1):c.15658-20G>T
|
rs901508795
|
0.00001
|
|
NM_182961.4(SYNE1):c.15661A>G (p.Lys5221Glu)
|
rs764500952
|
0.00001
|
|
NM_182961.4(SYNE1):c.15815G>A (p.Arg5272Gln)
|
rs201750136
|
0.00001
|
|
NM_182961.4(SYNE1):c.15908G>C (p.Arg5303Pro)
|
rs537825329
|
0.00001
|
|
NM_182961.4(SYNE1):c.1590C>T (p.Tyr530=)
|
rs369178017
|
0.00001
|
|
NM_182961.4(SYNE1):c.15938C>G (p.Thr5313Ser)
|
rs779313924
|
0.00001
|
|
NM_182961.4(SYNE1):c.15974G>A (p.Arg5325Gln)
|
rs1233067296
|
0.00001
|
|
NM_182961.4(SYNE1):c.16237-10A>T
|
rs201078255
|
0.00001
|
|
NM_182961.4(SYNE1):c.16272G>A (p.Lys5424=)
|
rs142704460
|
0.00001
|
|
NM_182961.4(SYNE1):c.16294C>T (p.Arg5432Trp)
|
rs575137601
|
0.00001
|
|
NM_182961.4(SYNE1):c.16313C>T (p.Ala5438Val)
|
rs1229397934
|
0.00001
|
|
NM_182961.4(SYNE1):c.1631T>C (p.Val544Ala)
|
rs148295255
|
0.00001
|
|
NM_182961.4(SYNE1):c.16409A>G (p.Asp5470Gly)
|
rs747824937
|
0.00001
|
|
NM_182961.4(SYNE1):c.16544C>G (p.Ala5515Gly)
|
rs1021830711
|
0.00001
|
|
NM_182961.4(SYNE1):c.16593A>T (p.Glu5531Asp)
|
rs769306377
|
0.00001
|
|
NM_182961.4(SYNE1):c.16601A>C (p.Glu5534Ala)
|
rs1313738847
|
0.00001
|
|
NM_182961.4(SYNE1):c.16709A>G (p.Gln5570Arg)
|
rs928178334
|
0.00001
|
|
NM_182961.4(SYNE1):c.16785C>T (p.Ser5595=)
|
rs142010074
|
0.00001
|
|
NM_182961.4(SYNE1):c.16832G>A (p.Arg5611Gln)
|
rs746879340
|
0.00001
|
|
NM_182961.4(SYNE1):c.16867C>T (p.Arg5623Cys)
|
rs570556738
|
0.00001
|
|
NM_182961.4(SYNE1):c.16956G>A (p.Gln5652=)
|
rs1455225493
|
0.00001
|
|
NM_182961.4(SYNE1):c.16999G>A (p.Glu5667Lys)
|
rs749088509
|
0.00001
|
|
NM_182961.4(SYNE1):c.169A>G (p.Met57Val)
|
rs1031712545
|
0.00001
|
|
NM_182961.4(SYNE1):c.17016G>T (p.Arg5672=)
|
rs573806608
|
0.00001
|
|
NM_182961.4(SYNE1):c.17020-16G>A
|
rs745471011
|
0.00001
|
|
NM_182961.4(SYNE1):c.17097C>T (p.Pro5699=)
|
rs769890058
|
0.00001
|
|
NM_182961.4(SYNE1):c.17098G>A (p.Glu5700Lys)
|
rs1227780117
|
0.00001
|
|
NM_182961.4(SYNE1):c.17118A>G (p.Leu5706=)
|
rs1194006323
|
0.00001
|
|
NM_182961.4(SYNE1):c.17189G>A (p.Cys5730Tyr)
|
rs759609921
|
0.00001
|
|
NM_182961.4(SYNE1):c.17229T>C (p.Tyr5743=)
|
rs377344899
|
0.00001
|
|
NM_182961.4(SYNE1):c.1729+8A>G
|
rs188999515
|
0.00001
|
|
NM_182961.4(SYNE1):c.17326G>T (p.Ala5776Ser)
|
rs774018511
|
0.00001
|
|
NM_182961.4(SYNE1):c.17332A>G (p.Ile5778Val)
|
rs762422242
|
0.00001
|
|
NM_182961.4(SYNE1):c.17347-16G>C
|
rs200637611
|
0.00001
|
|
NM_182961.4(SYNE1):c.17347G>C (p.Glu5783Gln)
|
rs754105532
|
0.00001
|
|
NM_182961.4(SYNE1):c.17434G>A (p.Ala5812Thr)
|
rs775815795
|
0.00001
|
|
NM_182961.4(SYNE1):c.17443C>G (p.Leu5815Val)
|
rs987594036
|
0.00001
|
|
NM_182961.4(SYNE1):c.17464G>C (p.Glu5822Gln)
|
rs2095193468
|
0.00001
|
|
NM_182961.4(SYNE1):c.17487G>A (p.Glu5829=)
|
rs963252462
|
0.00001
|
|
NM_182961.4(SYNE1):c.17544G>A (p.Met5848Ile)
|
rs766625615
|
0.00001
|
|
NM_182961.4(SYNE1):c.17562C>T (p.His5854=)
|
rs771992733
|
0.00001
|
|
NM_182961.4(SYNE1):c.17564C>T (p.Thr5855Ile)
|
rs1336941426
|
0.00001
|
|
NM_182961.4(SYNE1):c.17624C>A (p.Ser5875Tyr)
|
rs1043563187
|
0.00001
|
|
NM_182961.4(SYNE1):c.17648C>A (p.Ser5883Ter)
|
rs1300885934
|
0.00001
|
|
NM_182961.4(SYNE1):c.17682+7C>T
|
rs1453568721
|
0.00001
|
|
NM_182961.4(SYNE1):c.17757C>T (p.Ser5919=)
|
rs550385131
|
0.00001
|
|
NM_182961.4(SYNE1):c.17775T>C (p.Tyr5925=)
|
rs756831138
|
0.00001
|
|
NM_182961.4(SYNE1):c.17851-7G>T
|
rs776806501
|
0.00001
|
|
NM_182961.4(SYNE1):c.17912C>G (p.Ser5971Cys)
|
rs753835774
|
0.00001
|
|
NM_182961.4(SYNE1):c.17943C>A (p.Ala5981=)
|
rs201436749
|
0.00001
|
|
NM_182961.4(SYNE1):c.17945T>C (p.Ile5982Thr)
|
rs375798794
|
0.00001
|
|
NM_182961.4(SYNE1):c.17980_17988del (p.Arg5994_Pro5996del)
|
rs2094716921
|
0.00001
|
|
NM_182961.4(SYNE1):c.18072C>T (p.Leu6024=)
|
rs749375364
|
0.00001
|
|
NM_182961.4(SYNE1):c.18079G>C (p.Glu6027Gln)
|
rs745822192
|
0.00001
|
|
NM_182961.4(SYNE1):c.18090C>T (p.Ser6030=)
|
rs146238726
|
0.00001
|
|
NM_182961.4(SYNE1):c.18103G>T (p.Ala6035Ser)
|
rs557248018
|
0.00001
|
|
NM_182961.4(SYNE1):c.18113C>T (p.Ala6038Val)
|
rs752183118
|
0.00001
|
|
NM_182961.4(SYNE1):c.18137C>T (p.Thr6046Met)
|
rs372219741
|
0.00001
|
|
NM_182961.4(SYNE1):c.18154G>A (p.Glu6052Lys)
|
rs1279573379
|
0.00001
|
|
NM_182961.4(SYNE1):c.18189G>C (p.Gly6063=)
|
rs1025895913
|
0.00001
|
|
NM_182961.4(SYNE1):c.18228G>A (p.Leu6076=)
|
rs1188706681
|
0.00001
|
|
NM_182961.4(SYNE1):c.18249G>A (p.Gln6083=)
|
rs748739828
|
0.00001
|
|
NM_182961.4(SYNE1):c.18290G>T (p.Ser6097Ile)
|
rs899182753
|
0.00001
|
|
NM_182961.4(SYNE1):c.18326C>T (p.Ala6109Val)
|
rs549373990
|
0.00001
|
|
NM_182961.4(SYNE1):c.18327G>A (p.Ala6109=)
|
rs148518750
|
0.00001
|
|
NM_182961.4(SYNE1):c.18432A>C (p.Ser6144=)
|
rs769588658
|
0.00001
|
|
NM_182961.4(SYNE1):c.18513G>T (p.Arg6171Ser)
|
rs764725032
|
0.00001
|
|
NM_182961.4(SYNE1):c.18573+3G>A
|
rs886044046
|
0.00001
|
|
NM_182961.4(SYNE1):c.18574-4G>C
|
rs767063118
|
0.00001
|
|
NM_182961.4(SYNE1):c.18594G>C (p.Glu6198Asp)
|
rs776024100
|
0.00001
|
|
NM_182961.4(SYNE1):c.18615A>G (p.Thr6205=)
|
rs552884641
|
0.00001
|
|
NM_182961.4(SYNE1):c.18655G>C (p.Ala6219Pro)
|
rs538161615
|
0.00001
|
|
NM_182961.4(SYNE1):c.18663C>T (p.Thr6221=)
|
rs771466788
|
0.00001
|
|
NM_182961.4(SYNE1):c.18745C>T (p.Arg6249Cys)
|
rs1270352436
|
0.00001
|
|
NM_182961.4(SYNE1):c.18748T>C (p.Ser6250Pro)
|
rs371489057
|
0.00001
|
|
NM_182961.4(SYNE1):c.1875G>A (p.Leu625=)
|
rs908412593
|
0.00001
|
|
NM_182961.4(SYNE1):c.18760C>T (p.Arg6254Cys)
|
rs139449273
|
0.00001
|
|
NM_182961.4(SYNE1):c.18761G>A (p.Arg6254His)
|
rs752272082
|
0.00001
|
|
NM_182961.4(SYNE1):c.18788C>T (p.Ser6263Leu)
|
rs141196768
|
0.00001
|
|
NM_182961.4(SYNE1):c.18813T>C (p.Ala6271=)
|
rs368818393
|
0.00001
|
|
NM_182961.4(SYNE1):c.18842A>C (p.Glu6281Ala)
|
rs965275563
|
0.00001
|
|
NM_182961.4(SYNE1):c.1887A>G (p.Leu629=)
|
rs972467458
|
0.00001
|
|
NM_182961.4(SYNE1):c.19014G>A (p.Leu6338=)
|
rs762720357
|
0.00001
|
|
NM_182961.4(SYNE1):c.19086C>T (p.Phe6362=)
|
rs749565347
|
0.00001
|
|
NM_182961.4(SYNE1):c.19124A>G (p.Gln6375Arg)
|
rs909589026
|
0.00001
|
|
NM_182961.4(SYNE1):c.19223T>C (p.Leu6408Ser)
|
rs758337239
|
0.00001
|
|
NM_182961.4(SYNE1):c.19243T>G (p.Cys6415Gly)
|
rs1398807335
|
0.00001
|
|
NM_182961.4(SYNE1):c.1932+7T>C
|
rs754738610
|
0.00001
|
|
NM_182961.4(SYNE1):c.19352G>A (p.Arg6451Gln)
|
rs943903359
|
0.00001
|
|
NM_182961.4(SYNE1):c.19366G>A (p.Asp6456Asn)
|
rs376421422
|
0.00001
|
|
NM_182961.4(SYNE1):c.19386G>C (p.Leu6462Phe)
|
rs1453005046
|
0.00001
|
|
NM_182961.4(SYNE1):c.1946A>G (p.Asn649Ser)
|
rs756816038
|
0.00001
|
|
NM_182961.4(SYNE1):c.19470+5G>A
|
rs775233950
|
0.00001
|
|
NM_182961.4(SYNE1):c.19492A>G (p.Thr6498Ala)
|
rs2088379630
|
0.00001
|
|
NM_182961.4(SYNE1):c.19564C>T (p.Gln6522Ter)
|
rs781655232
|
0.00001
|
|
NM_182961.4(SYNE1):c.19600A>C (p.Lys6534Gln)
|
rs1377270650
|
0.00001
|
|
NM_182961.4(SYNE1):c.19636C>T (p.Arg6546Cys)
|
rs369420729
|
0.00001
|
|
NM_182961.4(SYNE1):c.19637G>A (p.Arg6546His)
|
rs375565416
|
0.00001
|
|
NM_182961.4(SYNE1):c.19640G>A (p.Gly6547Asp)
|
rs766241487
|
0.00001
|
|
NM_182961.4(SYNE1):c.19683C>G (p.Ser6561=)
|
rs1463559492
|
0.00001
|
|
NM_182961.4(SYNE1):c.19719C>T (p.Ile6573=)
|
rs1437801725
|
0.00001
|
|
NM_182961.4(SYNE1):c.19815T>A (p.Gly6605=)
|
rs776418227
|
0.00001
|
|
NM_182961.4(SYNE1):c.1984G>A (p.Asp662Asn)
|
rs755573339
|
0.00001
|
|
NM_182961.4(SYNE1):c.19867A>G (p.Ile6623Val)
|
rs368088542
|
0.00001
|
|
NM_182961.4(SYNE1):c.19886A>C (p.Lys6629Thr)
|
rs764885262
|
0.00001
|
|
NM_182961.4(SYNE1):c.19894-11A>C
|
rs1388264961
|
0.00001
|
|
NM_182961.4(SYNE1):c.19970A>G (p.Gln6657Arg)
|
rs751964300
|
0.00001
|
|
NM_182961.4(SYNE1):c.20003C>T (p.Ala6668Val)
|
rs1483994641
|
0.00001
|
|
NM_182961.4(SYNE1):c.20068-20G>A
|
rs769554267
|
0.00001
|
|
NM_182961.4(SYNE1):c.20234A>G (p.Lys6745Arg)
|
rs769256850
|
0.00001
|
|
NM_182961.4(SYNE1):c.20263C>T (p.Arg6755Ter)
|
rs780451185
|
0.00001
|
|
NM_182961.4(SYNE1):c.20278A>G (p.Ile6760Val)
|
rs532550838
|
0.00001
|
|
NM_182961.4(SYNE1):c.20295A>G (p.Leu6765=)
|
rs1180529553
|
0.00001
|
|
NM_182961.4(SYNE1):c.20314C>T (p.Leu6772Phe)
|
rs1309947836
|
0.00001
|
|
NM_182961.4(SYNE1):c.20328G>C (p.Trp6776Cys)
|
rs539439844
|
0.00001
|
|
NM_182961.4(SYNE1):c.20433A>T (p.Leu6811Phe)
|
rs766238098
|
0.00001
|
|
NM_182961.4(SYNE1):c.20517A>G (p.Leu6839=)
|
rs1428729266
|
0.00001
|
|
NM_182961.4(SYNE1):c.20530-10C>T
|
rs1562379182
|
0.00001
|
|
NM_182961.4(SYNE1):c.20546T>C (p.Val6849Ala)
|
rs886043522
|
0.00001
|
|
NM_182961.4(SYNE1):c.20549A>T (p.Asp6850Val)
|
rs773506774
|
0.00001
|
|
NM_182961.4(SYNE1):c.20553C>T (p.Ala6851=)
|
rs969664934
|
0.00001
|
|
NM_182961.4(SYNE1):c.20627C>T (p.Thr6876Met)
|
rs144417950
|
0.00001
|
|
NM_182961.4(SYNE1):c.20645C>T (p.Ser6882Leu)
|
rs373012438
|
0.00001
|
|
NM_182961.4(SYNE1):c.20647C>T (p.Arg6883Cys)
|
rs746823107
|
0.00001
|
|
NM_182961.4(SYNE1):c.20650A>G (p.Ile6884Val)
|
rs752179906
|
0.00001
|
|
NM_182961.4(SYNE1):c.20691C>T (p.Ala6897=)
|
rs775882254
|
0.00001
|
|
NM_182961.4(SYNE1):c.20762G>A (p.Ser6921Asn)
|
rs372288820
|
0.00001
|
|
NM_182961.4(SYNE1):c.20821A>G (p.Ile6941Val)
|
rs191912037
|
0.00001
|
|
NM_182961.4(SYNE1):c.20836A>G (p.Ile6946Val)
|
rs758767378
|
0.00001
|
|
NM_182961.4(SYNE1):c.2086G>A (p.Glu696Lys)
|
rs746477050
|
0.00001
|
|
NM_182961.4(SYNE1):c.20920G>A (p.Val6974Met)
|
rs767422903
|
0.00001
|
|
NM_182961.4(SYNE1):c.20955G>A (p.Lys6985=)
|
rs138024258
|
0.00001
|
|
NM_182961.4(SYNE1):c.20957G>A (p.Arg6986His)
|
rs772675312
|
0.00001
|
|
NM_182961.4(SYNE1):c.20964T>C (p.Asp6988=)
|
rs1361567937
|
0.00001
|
|
NM_182961.4(SYNE1):c.21039+6C>G
|
rs368575705
|
0.00001
|
|
NM_182961.4(SYNE1):c.21077A>C (p.Glu7026Ala)
|
rs777755452
|
0.00001
|
|
NM_182961.4(SYNE1):c.21163G>C (p.Ala7055Pro)
|
rs772233604
|
0.00001
|
|
NM_182961.4(SYNE1):c.2118G>A (p.Met706Ile)
|
rs757676303
|
0.00001
|
|
NM_182961.4(SYNE1):c.21197A>G (p.Asp7066Gly)
|
rs755014049
|
0.00001
|
|
NM_182961.4(SYNE1):c.21199C>G (p.Leu7067Val)
|
rs749058571
|
0.00001
|
|
NM_182961.4(SYNE1):c.21302T>G (p.Met7101Arg)
|
rs769405487
|
0.00001
|
|
NM_182961.4(SYNE1):c.21352-19T>C
|
rs1316209013
|
0.00001
|
|
NM_182961.4(SYNE1):c.21426A>T (p.Ile7142=)
|
rs775691059
|
0.00001
|
|
NM_182961.4(SYNE1):c.21523-19G>A
|
rs1480392957
|
0.00001
|
|
NM_182961.4(SYNE1):c.2155A>G (p.Thr719Ala)
|
rs1792916692
|
0.00001
|
|
NM_182961.4(SYNE1):c.21610C>A (p.Pro7204Thr)
|
rs1257118792
|
0.00001
|
|
NM_182961.4(SYNE1):c.21652A>G (p.Met7218Val)
|
rs763768133
|
0.00001
|
|
NM_182961.4(SYNE1):c.21657-19T>C
|
rs993085792
|
0.00001
|
|
NM_182961.4(SYNE1):c.21663T>C (p.Asn7221=)
|
rs1413291850
|
0.00001
|
|
NM_182961.4(SYNE1):c.2168T>C (p.Phe723Ser)
|
rs1348902701
|
0.00001
|
|
NM_182961.4(SYNE1):c.21702C>T (p.Ser7234=)
|
rs763751486
|
0.00001
|
|
NM_182961.4(SYNE1):c.2175G>A (p.Thr725=)
|
rs1023357286
|
0.00001
|
|
NM_182961.4(SYNE1):c.21825C>T (p.Ala7275=)
|
rs746044264
|
0.00001
|
|
NM_182961.4(SYNE1):c.21835G>A (p.Val7279Ile)
|
rs747185019
|
0.00001
|
|
NM_182961.4(SYNE1):c.21862-4C>T
|
rs772311271
|
0.00001
|
|
NM_182961.4(SYNE1):c.21907C>T (p.Leu7303Phe)
|
rs753138419
|
0.00001
|
|
NM_182961.4(SYNE1):c.22003G>A (p.Ala7335Thr)
|
rs1029115177
|
0.00001
|
|
NM_182961.4(SYNE1):c.22045-17C>A
|
rs750865625
|
0.00001
|
|
NM_182961.4(SYNE1):c.22163C>T (p.Thr7388Ile)
|
rs938003229
|
0.00001
|
|
NM_182961.4(SYNE1):c.22171G>A (p.Glu7391Lys)
|
rs751761981
|
0.00001
|
|
NM_182961.4(SYNE1):c.22260A>G (p.Leu7420=)
|
rs900883985
|
0.00001
|
|
NM_182961.4(SYNE1):c.22304G>A (p.Arg7435His)
|
rs748260996
|
0.00001
|
|
NM_182961.4(SYNE1):c.22308T>C (p.His7436=)
|
rs538357613
|
0.00001
|
|
NM_182961.4(SYNE1):c.22368A>G (p.Leu7456=)
|
rs745722568
|
0.00001
|
|
NM_182961.4(SYNE1):c.22405A>G (p.Met7469Val)
|
rs751450784
|
0.00001
|
|
NM_182961.4(SYNE1):c.22431A>C (p.Gln7477His)
|
rs752421314
|
0.00001
|
|
NM_182961.4(SYNE1):c.22492G>A (p.Glu7498Lys)
|
rs762050668
|
0.00001
|
|
NM_182961.4(SYNE1):c.22543A>G (p.Ile7515Val)
|
rs369260919
|
0.00001
|
|
NM_182961.4(SYNE1):c.22557A>G (p.Gln7519=)
|
rs779555194
|
0.00001
|
|
NM_182961.4(SYNE1):c.22602C>G (p.Asn7534Lys)
|
rs1383141765
|
0.00001
|
|
NM_182961.4(SYNE1):c.22693T>C (p.Trp7565Arg)
|
rs1166773141
|
0.00001
|
|
NM_182961.4(SYNE1):c.22733G>T (p.Trp7578Leu)
|
rs1215390720
|
0.00001
|
|
NM_182961.4(SYNE1):c.22734G>A (p.Trp7578Ter)
|
rs780634258
|
0.00001
|
|
NM_182961.4(SYNE1):c.22735T>A (p.Leu7579Met)
|
rs1257304725
|
0.00001
|
|
NM_182961.4(SYNE1):c.22744G>A (p.Val7582Met)
|
rs748623485
|
0.00001
|
|
NM_182961.4(SYNE1):c.22770C>T (p.Leu7590=)
|
rs765032226
|
0.00001
|
|
NM_182961.4(SYNE1):c.22771G>A (p.Gly7591Arg)
|
rs886042946
|
0.00001
|
|
NM_182961.4(SYNE1):c.22772G>A (p.Gly7591Glu)
|
rs540603947
|
0.00001
|
|
NM_182961.4(SYNE1):c.22824+19T>C
|
rs367932651
|
0.00001
|
|
NM_182961.4(SYNE1):c.22825-14A>G
|
rs201610447
|
0.00001
|
|
NM_182961.4(SYNE1):c.22834A>G (p.Lys7612Glu)
|
rs1434935687
|
0.00001
|
|
NM_182961.4(SYNE1):c.22837G>C (p.Val7613Leu)
|
rs776253447
|
0.00001
|
|
NM_182961.4(SYNE1):c.22838T>C (p.Val7613Ala)
|
rs1402188826
|
0.00001
|
|
NM_182961.4(SYNE1):c.22847G>A (p.Arg7616Gln)
|
rs780964504
|
0.00001
|
|
NM_182961.4(SYNE1):c.22887G>A (p.Lys7629=)
|
rs780771518
|
0.00001
|
|
NM_182961.4(SYNE1):c.22905G>A (p.Ala7635=)
|
rs758511859
|
0.00001
|
|
NM_182961.4(SYNE1):c.22914C>T (p.Gly7638=)
|
rs772920041
|
0.00001
|
|
NM_182961.4(SYNE1):c.22929G>T (p.Leu7643Phe)
|
rs764300736
|
0.00001
|
|
NM_182961.4(SYNE1):c.22941C>T (p.Leu7647=)
|
rs747134735
|
0.00001
|
|
NM_182961.4(SYNE1):c.22986A>C (p.Glu7662Asp)
|
rs763100950
|
0.00001
|
|
NM_182961.4(SYNE1):c.2299A>C (p.Thr767Pro)
|
rs1350005154
|
0.00001
|
|
NM_182961.4(SYNE1):c.2300C>T (p.Thr767Ile)
|
rs750186803
|
0.00001
|
|
NM_182961.4(SYNE1):c.23069G>A (p.Arg7690Gln)
|
rs1204207131
|
0.00001
|
|
NM_182961.4(SYNE1):c.23100C>T (p.Leu7700=)
|
rs1020807218
|
0.00001
|
|
NM_182961.4(SYNE1):c.23116G>C (p.Glu7706Gln)
|
rs200066979
|
0.00001
|
|
NM_182961.4(SYNE1):c.23138G>A (p.Arg7713His)
|
rs750911961
|
0.00001
|
|
NM_182961.4(SYNE1):c.23148A>G (p.Glu7716=)
|
rs768057206
|
0.00001
|
|
NM_182961.4(SYNE1):c.23162T>C (p.Val7721Ala)
|
rs374073415
|
0.00001
|
|
NM_182961.4(SYNE1):c.23190G>A (p.Gln7730=)
|
rs370445850
|
0.00001
|
|
NM_182961.4(SYNE1):c.23243C>G (p.Ser7748Cys)
|
rs1289070478
|
0.00001
|
|
NM_182961.4(SYNE1):c.23248C>T (p.Leu7750Phe)
|
rs778500015
|
0.00001
|
|
NM_182961.4(SYNE1):c.23258G>A (p.Arg7753His)
|
rs779568455
|
0.00001
|
|
NM_182961.4(SYNE1):c.23271G>A (p.Leu7757=)
|
rs993878825
|
0.00001
|
|
NM_182961.4(SYNE1):c.23288A>G (p.Glu7763Gly)
|
rs765427429
|
0.00001
|
|
NM_182961.4(SYNE1):c.23301+10G>A
|
rs113526858
|
0.00001
|
|
NM_182961.4(SYNE1):c.23374C>A (p.Leu7792Ile)
|
rs376844951
|
0.00001
|
|
NM_182961.4(SYNE1):c.23406A>G (p.Lys7802=)
|
rs780485635
|
0.00001
|
|
NM_182961.4(SYNE1):c.23444T>C (p.Ile7815Thr)
|
rs1391158473
|
0.00001
|
|
NM_182961.4(SYNE1):c.23460+10G>A
|
rs376484866
|
0.00001
|
|
NM_182961.4(SYNE1):c.2347A>C (p.Lys783Gln)
|
rs1259951823
|
0.00001
|
|
NM_182961.4(SYNE1):c.23549G>T (p.Ser7850Ile)
|
rs781532655
|
0.00001
|
|
NM_182961.4(SYNE1):c.23617A>G (p.Ile7873Val)
|
rs1249661326
|
0.00001
|
|
NM_182961.4(SYNE1):c.23628-20T>C
|
rs1242408253
|
0.00001
|
|
NM_182961.4(SYNE1):c.23703C>T (p.Leu7901=)
|
rs998453025
|
0.00001
|
|
NM_182961.4(SYNE1):c.2374C>T (p.Leu792Phe)
|
rs1172072268
|
0.00001
|
|
NM_182961.4(SYNE1):c.23766A>G (p.Ile7922Met)
|
rs1399057012
|
0.00001
|
|
NM_182961.4(SYNE1):c.23771G>A (p.Arg7924Lys)
|
rs1178007789
|
0.00001
|
|
NM_182961.4(SYNE1):c.23791-5T>C
|
rs2061329366
|
0.00001
|
|
NM_182961.4(SYNE1):c.23890G>A (p.Ala7964Thr)
|
rs780744047
|
0.00001
|
|
NM_182961.4(SYNE1):c.23893G>A (p.Glu7965Lys)
|
rs753219547
|
0.00001
|
|
NM_182961.4(SYNE1):c.23918C>T (p.Thr7973Met)
|
rs558928607
|
0.00001
|
|
NM_182961.4(SYNE1):c.23935C>T (p.Arg7979Trp)
|
rs762991088
|
0.00001
|
|
NM_182961.4(SYNE1):c.23957T>C (p.Met7986Thr)
|
rs146463833
|
0.00001
|
|
NM_182961.4(SYNE1):c.23969G>A (p.Arg7990Lys)
|
rs777371816
|
0.00001
|
|
NM_182961.4(SYNE1):c.23991G>A (p.Thr7997=)
|
rs572195368
|
0.00001
|
|
NM_182961.4(SYNE1):c.23996G>A (p.Arg7999Gln)
|
rs267600862
|
0.00001
|
|
NM_182961.4(SYNE1):c.24004C>G (p.Gln8002Glu)
|
rs1361081346
|
0.00001
|
|
NM_182961.4(SYNE1):c.24029G>A (p.Arg8010His)
|
rs776221173
|
0.00001
|
|
NM_182961.4(SYNE1):c.2412C>T (p.Ser804=)
|
rs1384388900
|
0.00001
|
|
NM_182961.4(SYNE1):c.24139C>T (p.Arg8047Ter)
|
rs1174316105
|
0.00001
|
|
NM_182961.4(SYNE1):c.24191G>A (p.Arg8064His)
|
rs1042685641
|
0.00001
|
|
NM_182961.4(SYNE1):c.24211C>T (p.Arg8071Cys)
|
rs1380424994
|
0.00001
|
|
NM_182961.4(SYNE1):c.24212G>A (p.Arg8071His)
|
rs1338634888
|
0.00001
|
|
NM_182961.4(SYNE1):c.24273C>T (p.Asn8091=)
|
rs774885671
|
0.00001
|
|
NM_182961.4(SYNE1):c.24312+8C>G
|
rs780026181
|
0.00001
|
|
NM_182961.4(SYNE1):c.24330T>C (p.Arg8110=)
|
rs994710536
|
0.00001
|
|
NM_182961.4(SYNE1):c.24350G>A (p.Arg8117Gln)
|
rs777435137
|
0.00001
|
|
NM_182961.4(SYNE1):c.24401T>C (p.Ile8134Thr)
|
rs774707282
|
0.00001
|
|
NM_182961.4(SYNE1):c.24420T>C (p.Cys8140=)
|
rs1437033330
|
0.00001
|
|
NM_182961.4(SYNE1):c.24423T>C (p.Asp8141=)
|
rs1257978665
|
0.00001
|
|
NM_182961.4(SYNE1):c.24424G>T (p.Val8142Phe)
|
rs1389166406
|
0.00001
|
|
NM_182961.4(SYNE1):c.24429A>T (p.Gln8143His)
|
rs775617906
|
0.00001
|
|
NM_182961.4(SYNE1):c.24535C>A (p.Pro8179Thr)
|
rs2060075935
|
0.00001
|
|
NM_182961.4(SYNE1):c.24549G>A (p.Ala8183=)
|
rs755622688
|
0.00001
|
|
NM_182961.4(SYNE1):c.24552C>T (p.Ile8184=)
|
rs563494219
|
0.00001
|
|
NM_182961.4(SYNE1):c.24566T>A (p.Leu8189Gln)
|
rs201193141
|
0.00001
|
|
NM_182961.4(SYNE1):c.24600C>T (p.Phe8200=)
|
rs370421580
|
0.00001
|
|
NM_182961.4(SYNE1):c.24601G>A (p.Gly8201Arg)
|
rs886042886
|
0.00001
|
|
NM_182961.4(SYNE1):c.24613A>C (p.Arg8205=)
|
rs779904585
|
0.00001
|
|
NM_182961.4(SYNE1):c.24618C>T (p.Tyr8206=)
|
rs373486168
|
0.00001
|
|
NM_182961.4(SYNE1):c.24633C>T (p.Ile8211=)
|
rs201078523
|
0.00001
|
|
NM_182961.4(SYNE1):c.24771C>T (p.Leu8257=)
|
rs2059847697
|
0.00001
|
|
NM_182961.4(SYNE1):c.24801C>T (p.Ser8267=)
|
rs754900484
|
0.00001
|
|
NM_182961.4(SYNE1):c.24839C>G (p.Ser8280Cys)
|
rs1480247904
|
0.00001
|
|
NM_182961.4(SYNE1):c.24867T>C (p.Tyr8289=)
|
rs794727110
|
0.00001
|
|
NM_182961.4(SYNE1):c.2487C>T (p.Asp829=)
|
rs753367709
|
0.00001
|
|
NM_182961.4(SYNE1):c.24949T>C (p.Tyr8317His)
|
rs777322468
|
0.00001
|
|
NM_182961.4(SYNE1):c.24983A>G (p.His8328Arg)
|
rs1239507497
|
0.00001
|
|
NM_182961.4(SYNE1):c.25007G>A (p.Arg8336Gln)
|
rs200684943
|
0.00001
|
|
NM_182961.4(SYNE1):c.25009C>T (p.Gln8337Ter)
|
rs797046025
|
0.00001
|
|
NM_182961.4(SYNE1):c.25032T>C (p.Asp8344=)
|
rs779618522
|
0.00001
|
|
NM_182961.4(SYNE1):c.25056C>T (p.Thr8352=)
|
rs200678102
|
0.00001
|
|
NM_182961.4(SYNE1):c.25062T>C (p.Asn8354=)
|
rs765407593
|
0.00001
|
|
NM_182961.4(SYNE1):c.25119C>T (p.Tyr8373=)
|
rs144685965
|
0.00001
|
|
NM_182961.4(SYNE1):c.25132G>A (p.Gly8378Ser)
|
rs780271781
|
0.00001
|
|
NM_182961.4(SYNE1):c.25144A>G (p.Ser8382Gly)
|
rs1306354261
|
0.00001
|
|
NM_182961.4(SYNE1):c.25225A>G (p.Ser8409Gly)
|
rs200377339
|
0.00001
|
|
NM_182961.4(SYNE1):c.25246+3G>A
|
rs765849365
|
0.00001
|
|
NM_182961.4(SYNE1):c.25362C>T (p.Ala8454=)
|
rs773341728
|
0.00001
|
|
NM_182961.4(SYNE1):c.25447A>G (p.Lys8483Glu)
|
rs1253032018
|
0.00001
|
|
NM_182961.4(SYNE1):c.25552C>T (p.Arg8518Trp)
|
rs375616724
|
0.00001
|
|
NM_182961.4(SYNE1):c.25553G>A (p.Arg8518Gln)
|
rs370008122
|
0.00001
|
|
NM_182961.4(SYNE1):c.25568G>A (p.Arg8523His)
|
rs759577495
|
0.00001
|
|
NM_182961.4(SYNE1):c.25601T>C (p.Val8534Ala)
|
rs746452797
|
0.00001
|
|
NM_182961.4(SYNE1):c.25624C>T (p.Arg8542Trp)
|
rs764235096
|
0.00001
|
|
NM_182961.4(SYNE1):c.25637A>G (p.Gln8546Arg)
|
rs529921934
|
0.00001
|
|
NM_182961.4(SYNE1):c.25650G>A (p.Met8550Ile)
|
rs1354935363
|
0.00001
|
|
NM_182961.4(SYNE1):c.25656C>T (p.Cys8552=)
|
rs747858299
|
0.00001
|
|
NM_182961.4(SYNE1):c.25706T>C (p.Ile8569Thr)
|
rs760698113
|
0.00001
|
|
NM_182961.4(SYNE1):c.25724A>T (p.Glu8575Val)
|
rs1258380992
|
0.00001
|
|
NM_182961.4(SYNE1):c.25735A>G (p.Ile8579Val)
|
rs200178554
|
0.00001
|
|
NM_182961.4(SYNE1):c.25736T>C (p.Ile8579Thr)
|
rs370566643
|
0.00001
|
|
NM_182961.4(SYNE1):c.25789-12T>G
|
rs775060646
|
0.00001
|
|
NM_182961.4(SYNE1):c.25860G>A (p.Leu8620=)
|
rs751355623
|
0.00001
|
|
NM_182961.4(SYNE1):c.2594G>A (p.Cys865Tyr)
|
rs1229969547
|
0.00001
|
|
NM_182961.4(SYNE1):c.25951C>T (p.Arg8651Cys)
|
rs149045775
|
0.00001
|
|
NM_182961.4(SYNE1):c.26001+4A>G
|
rs746958913
|
0.00001
|
|
NM_182961.4(SYNE1):c.26072G>A (p.Ser8691Asn)
|
rs753533241
|
0.00001
|
|
NM_182961.4(SYNE1):c.26078C>A (p.Pro8693Gln)
|
rs147829200
|
0.00001
|
|
NM_182961.4(SYNE1):c.2608A>T (p.Thr870Ser)
|
rs773195787
|
0.00001
|
|
NM_182961.4(SYNE1):c.26099G>A (p.Arg8700Gln)
|
rs758942329
|
0.00001
|
|
NM_182961.4(SYNE1):c.26106G>A (p.Lys8702=)
|
rs765865910
|
0.00001
|
|
NM_182961.4(SYNE1):c.26173G>A (p.Asp8725Asn)
|
rs767663894
|
0.00001
|
|
NM_182961.4(SYNE1):c.26177C>T (p.Ser8726Phe)
|
rs751627369
|
0.00001
|
|
NM_182961.4(SYNE1):c.26213G>A (p.Arg8738His)
|
rs1276774540
|
0.00001
|
|
NM_182961.4(SYNE1):c.26214C>T (p.Arg8738=)
|
rs529628600
|
0.00001
|
|
NM_182961.4(SYNE1):c.26215G>A (p.Gly8739Ser)
|
rs780574537
|
0.00001
|
|
NM_182961.4(SYNE1):c.26237G>A (p.Arg8746Gln)
|
rs757466963
|
0.00001
|
|
NM_182961.4(SYNE1):c.26345G>A (p.Arg8782Gln)
|
rs550697327
|
0.00001
|
|
NM_182961.4(SYNE1):c.26362C>T (p.Leu8788Phe)
|
rs747405346
|
0.00001
|
|
NM_182961.4(SYNE1):c.2661C>T (p.Asn887=)
|
rs780865643
|
0.00001
|
|
NM_182961.4(SYNE1):c.2662G>A (p.Val888Met)
|
rs756888254
|
0.00001
|
|
NM_182961.4(SYNE1):c.2685G>A (p.Thr895=)
|
rs754176545
|
0.00001
|
|
NM_182961.4(SYNE1):c.2693A>T (p.Gln898Leu)
|
rs898451919
|
0.00001
|
|
NM_182961.4(SYNE1):c.269C>T (p.Ala90Val)
|
rs2099133562
|
0.00001
|
|
NM_182961.4(SYNE1):c.26G>A (p.Arg9Gln)
|
rs1196383268
|
0.00001
|
|
NM_182961.4(SYNE1):c.2727+8G>T
|
rs112473275
|
0.00001
|
|
NM_182961.4(SYNE1):c.2728-5T>A
|
rs775558169
|
0.00001
|
|
NM_182961.4(SYNE1):c.2768A>T (p.Glu923Val)
|
rs376880609
|
0.00001
|
|
NM_182961.4(SYNE1):c.2807G>A (p.Arg936Gln)
|
rs537794828
|
0.00001
|
|
NM_182961.4(SYNE1):c.2809G>A (p.Ala937Thr)
|
rs570242828
|
0.00001
|
|
NM_182961.4(SYNE1):c.2892+7C>T
|
rs1372175734
|
0.00001
|
|
NM_182961.4(SYNE1):c.2959G>A (p.Asp987Asn)
|
rs1374710512
|
0.00001
|
|
NM_182961.4(SYNE1):c.3028-4G>A
|
rs1380560355
|
0.00001
|
|
NM_182961.4(SYNE1):c.3046C>T (p.Pro1016Ser)
|
rs763255748
|
0.00001
|
|
NM_182961.4(SYNE1):c.3087T>C (p.Asn1029=)
|
rs770801617
|
0.00001
|
|
NM_182961.4(SYNE1):c.310-11T>G
|
rs1241486044
|
0.00001
|
|
NM_182961.4(SYNE1):c.310-469C>T
|
rs762351812
|
0.00001
|
|
NM_182961.4(SYNE1):c.310-485A>G
|
rs764771842
|
0.00001
|
|
NM_182961.4(SYNE1):c.3131G>A (p.Arg1044Gln)
|
rs199888697
|
0.00001
|
|
NM_182961.4(SYNE1):c.3168G>T (p.Lys1056Asn)
|
rs144982424
|
0.00001
|
|
NM_182961.4(SYNE1):c.3185G>A (p.Arg1062Lys)
|
rs771821092
|
0.00001
|
|
NM_182961.4(SYNE1):c.3186+5G>A
|
rs778578295
|
0.00001
|
|
NM_182961.4(SYNE1):c.3382G>C (p.Asp1128His)
|
rs886061213
|
0.00001
|
|
NM_182961.4(SYNE1):c.3387C>T (p.Tyr1129=)
|
rs561575834
|
0.00001
|
|
NM_182961.4(SYNE1):c.3396-15C>T
|
rs535421518
|
0.00001
|
|
NM_182961.4(SYNE1):c.3454G>A (p.Gly1152Ser)
|
rs749547744
|
0.00001
|
|
NM_182961.4(SYNE1):c.3462C>T (p.Ala1154=)
|
rs1485702967
|
0.00001
|
|
NM_182961.4(SYNE1):c.3499G>A (p.Val1167Ile)
|
rs142734877
|
0.00001
|
|
NM_182961.4(SYNE1):c.3504+5G>A
|
rs1398879746
|
0.00001
|
|
NM_182961.4(SYNE1):c.3506A>T (p.Glu1169Val)
|
rs750101869
|
0.00001
|
|
NM_182961.4(SYNE1):c.3541C>T (p.Leu1181Phe)
|
rs1203451912
|
0.00001
|
|
NM_182961.4(SYNE1):c.3638C>A (p.Ser1213Tyr)
|
rs1226690928
|
0.00001
|
|
NM_182961.4(SYNE1):c.3643A>C (p.Lys1215Gln)
|
rs370014940
|
0.00001
|
|
NM_182961.4(SYNE1):c.3656C>T (p.Thr1219Met)
|
rs767097288
|
0.00001
|
|
NM_182961.4(SYNE1):c.3735C>T (p.Leu1245=)
|
rs758375991
|
0.00001
|
|
NM_182961.4(SYNE1):c.3740A>G (p.Glu1247Gly)
|
rs908679898
|
0.00001
|
|
NM_182961.4(SYNE1):c.3762A>T (p.Glu1254Asp)
|
rs745616824
|
0.00001
|
|
NM_182961.4(SYNE1):c.384C>G (p.Thr128=)
|
rs773315965
|
0.00001
|
|
NM_182961.4(SYNE1):c.386T>C (p.Ile129Thr)
|
rs1029244968
|
0.00001
|
|
NM_182961.4(SYNE1):c.3883C>G (p.Gln1295Glu)
|
rs750865008
|
0.00001
|
|
NM_182961.4(SYNE1):c.3912G>T (p.Gly1304=)
|
rs199595574
|
0.00001
|
|
NM_182961.4(SYNE1):c.3985G>C (p.Glu1329Gln)
|
rs985588823
|
0.00001
|
|
NM_182961.4(SYNE1):c.4044C>T (p.Asn1348=)
|
rs765010255
|
0.00001
|
|
NM_182961.4(SYNE1):c.4093C>T (p.Arg1365Cys)
|
rs770015858
|
0.00001
|
|
NM_182961.4(SYNE1):c.4192A>G (p.Asn1398Asp)
|
rs758427132
|
0.00001
|
|
NM_182961.4(SYNE1):c.41T>A (p.Ile14Asn)
|
rs202235488
|
0.00001
|
|
NM_182961.4(SYNE1):c.436C>G (p.Gln146Glu)
|
rs1302474521
|
0.00001
|
|
NM_182961.4(SYNE1):c.4424C>T (p.Ser1475Leu)
|
rs767883709
|
0.00001
|
|
NM_182961.4(SYNE1):c.4436T>A (p.Met1479Lys)
|
rs1218913029
|
0.00001
|
|
NM_182961.4(SYNE1):c.4439A>G (p.Asp1480Gly)
|
rs1289977041
|
0.00001
|
|
NM_182961.4(SYNE1):c.4462-7C>A
|
rs776393742
|
0.00001
|
|
NM_182961.4(SYNE1):c.4517A>C (p.Glu1506Ala)
|
rs577388500
|
0.00001
|
|
NM_182961.4(SYNE1):c.4524G>T (p.Gln1508His)
|
rs1378400021
|
0.00001
|
|
NM_182961.4(SYNE1):c.454G>A (p.Ala152Thr)
|
rs750659947
|
0.00001
|
|
NM_182961.4(SYNE1):c.4597G>A (p.Gly1533Arg)
|
rs573641821
|
0.00001
|
|
NM_182961.4(SYNE1):c.4609C>G (p.Arg1537Gly)
|
rs983431074
|
0.00001
|
|
NM_182961.4(SYNE1):c.4637C>A (p.Thr1546Lys)
|
rs755101379
|
0.00001
|
|
NM_182961.4(SYNE1):c.4809G>A (p.Glu1603=)
|
rs758316270
|
0.00001
|
|
NM_182961.4(SYNE1):c.4844G>C (p.Ser1615Thr)
|
rs775729666
|
0.00001
|
|
NM_182961.4(SYNE1):c.4884G>A (p.Glu1628=)
|
rs886042121
|
0.00001
|
|
NM_182961.4(SYNE1):c.4889C>T (p.Ala1630Val)
|
rs566004273
|
0.00001
|
|
NM_182961.4(SYNE1):c.4928C>T (p.Ala1643Val)
|
rs753598584
|
0.00001
|
|
NM_182961.4(SYNE1):c.4943C>T (p.Thr1648Met)
|
rs199797561
|
0.00001
|
|
NM_182961.4(SYNE1):c.5010G>T (p.Trp1670Cys)
|
rs373448917
|
0.00001
|
|
NM_182961.4(SYNE1):c.502A>G (p.Ser168Gly)
|
rs776344465
|
0.00001
|
|
NM_182961.4(SYNE1):c.5032G>A (p.Ala1678Thr)
|
rs1554680800
|
0.00001
|
|
NM_182961.4(SYNE1):c.5037T>C (p.Ser1679=)
|
rs1010531718
|
0.00001
|
|
NM_182961.4(SYNE1):c.5056T>C (p.Ser1686Pro)
|
rs1364310674
|
0.00001
|
|
NM_182961.4(SYNE1):c.5088T>G (p.Leu1696=)
|
rs767477486
|
0.00001
|
|
NM_182961.4(SYNE1):c.508C>T (p.Arg170Trp)
|
rs777175001
|
0.00001
|
|
NM_182961.4(SYNE1):c.5108A>G (p.Gln1703Arg)
|
rs200766001
|
0.00001
|
|
NM_182961.4(SYNE1):c.5220G>A (p.Glu1740=)
|
rs751765439
|
0.00001
|
|
NM_182961.4(SYNE1):c.5256C>A (p.Ile1752=)
|
rs587780469
|
0.00001
|
|
NM_182961.4(SYNE1):c.5291T>C (p.Val1764Ala)
|
rs761352115
|
0.00001
|
|
NM_182961.4(SYNE1):c.5390T>C (p.Met1797Thr)
|
rs1481121106
|
0.00001
|
|
NM_182961.4(SYNE1):c.5421+5A>T
|
rs755875029
|
0.00001
|
|
NM_182961.4(SYNE1):c.5422-7C>T
|
rs757136765
|
0.00001
|
|
NM_182961.4(SYNE1):c.5515C>T (p.Leu1839Phe)
|
rs746812274
|
0.00001
|
|
NM_182961.4(SYNE1):c.5556G>A (p.Leu1852=)
|
rs762111366
|
0.00001
|
|
NM_182961.4(SYNE1):c.5711T>G (p.Leu1904Trp)
|
rs1179461369
|
0.00001
|
|
NM_182961.4(SYNE1):c.5722G>T (p.Asp1908Tyr)
|
rs369176646
|
0.00001
|
|
NM_182961.4(SYNE1):c.5831A>G (p.Gln1944Arg)
|
rs1483236627
|
0.00001
|
|
NM_182961.4(SYNE1):c.5843G>T (p.Cys1948Phe)
|
rs761812821
|
0.00001
|
|
NM_182961.4(SYNE1):c.586A>G (p.Thr196Ala)
|
rs773890189
|
0.00001
|
|
NM_182961.4(SYNE1):c.5923G>T (p.Ala1975Ser)
|
rs750263410
|
0.00001
|
|
NM_182961.4(SYNE1):c.592A>G (p.Ile198Val)
|
rs746384499
|
0.00001
|
|
NM_182961.4(SYNE1):c.598G>A (p.Val200Ile)
|
rs1467783489
|
0.00001
|
|
NM_182961.4(SYNE1):c.600A>T (p.Val200=)
|
rs781563259
|
0.00001
|
|
NM_182961.4(SYNE1):c.6027T>A (p.Pro2009=)
|
rs1181492707
|
0.00001
|
|
NM_182961.4(SYNE1):c.6031C>T (p.Arg2011Cys)
|
rs767563434
|
0.00001
|
|
NM_182961.4(SYNE1):c.6051-15C>A
|
rs199794081
|
0.00001
|
|
NM_182961.4(SYNE1):c.6051-6T>C
|
rs1171413264
|
0.00001
|
|
NM_182961.4(SYNE1):c.6104T>C (p.Leu2035Pro)
|
rs2098103147
|
0.00001
|
|
NM_182961.4(SYNE1):c.6184C>T (p.Arg2062Cys)
|
rs746057788
|
0.00001
|
|
NM_182961.4(SYNE1):c.6231-7A>G
|
rs368858186
|
0.00001
|
|
NM_182961.4(SYNE1):c.6291T>C (p.Ala2097=)
|
rs767090248
|
0.00001
|
|
NM_182961.4(SYNE1):c.6381+15G>A
|
rs1316706320
|
0.00001
|
|
NM_182961.4(SYNE1):c.6402A>G (p.Lys2134=)
|
rs182732645
|
0.00001
|
|
NM_182961.4(SYNE1):c.6407A>G (p.Asn2136Ser)
|
rs754275815
|
0.00001
|
|
NM_182961.4(SYNE1):c.6416A>G (p.Gln2139Arg)
|
rs1014104831
|
0.00001
|
|
NM_182961.4(SYNE1):c.6524T>C (p.Val2175Ala)
|
rs376472102
|
0.00001
|
|
NM_182961.4(SYNE1):c.6540+11C>T
|
rs765474841
|
0.00001
|
|
NM_182961.4(SYNE1):c.6591C>T (p.Ser2197=)
|
rs190301879
|
0.00001
|
|
NM_182961.4(SYNE1):c.661C>T (p.Arg221Ter)
|
rs750266004
|
0.00001
|
|
NM_182961.4(SYNE1):c.6646T>C (p.Cys2216Arg)
|
rs1183559257
|
0.00001
|
|
NM_182961.4(SYNE1):c.6720T>C (p.Phe2240=)
|
rs758841233
|
0.00001
|
|
NM_182961.4(SYNE1):c.6723+1G>C
|
rs779302145
|
0.00001
|
|
NM_182961.4(SYNE1):c.6723+5A>C
|
rs755302313
|
0.00001
|
|
NM_182961.4(SYNE1):c.6724-6T>C
|
rs1441438677
|
0.00001
|
|
NM_182961.4(SYNE1):c.6724T>A (p.Ser2242Thr)
|
rs371609288
|
0.00001
|
|
NM_182961.4(SYNE1):c.679T>C (p.Leu227=)
|
rs374438652
|
0.00001
|
|
NM_182961.4(SYNE1):c.6813G>A (p.Pro2271=)
|
rs138911730
|
0.00001
|
|
NM_182961.4(SYNE1):c.6883G>A (p.Ala2295Thr)
|
rs758161551
|
0.00001
|
|
NM_182961.4(SYNE1):c.6974A>G (p.Glu2325Gly)
|
rs777595583
|
0.00001
|
|
NM_182961.4(SYNE1):c.6977C>T (p.Ser2326Leu)
|
rs752405422
|
0.00001
|
|
NM_182961.4(SYNE1):c.6A>C (p.Ala2=)
|
rs757033067
|
0.00001
|
|
NM_182961.4(SYNE1):c.7102C>T (p.Arg2368Cys)
|
rs780033455
|
0.00001
|
|
NM_182961.4(SYNE1):c.7139G>A (p.Arg2380His)
|
rs554035671
|
0.00001
|
|
NM_182961.4(SYNE1):c.7218T>C (p.Ser2406=)
|
rs947558246
|
0.00001
|
|
NM_182961.4(SYNE1):c.7267T>C (p.Leu2423=)
|
rs968854661
|
0.00001
|
|
NM_182961.4(SYNE1):c.7309G>A (p.Gly2437Ser)
|
rs140948068
|
0.00001
|
|
NM_182961.4(SYNE1):c.7364C>T (p.Ser2455Leu)
|
rs969369417
|
0.00001
|
|
NM_182961.4(SYNE1):c.738C>T (p.Ala246=)
|
rs370211240
|
0.00001
|
|
NM_182961.4(SYNE1):c.7434T>C (p.Ser2478=)
|
rs1340757793
|
0.00001
|
|
NM_182961.4(SYNE1):c.746A>T (p.Glu249Val)
|
rs750178248
|
0.00001
|
|
NM_182961.4(SYNE1):c.7475C>A (p.Ala2492Asp)
|
rs773876679
|
0.00001
|
|
NM_182961.4(SYNE1):c.7525G>T (p.Ala2509Ser)
|
rs748362030
|
0.00001
|
|
NM_182961.4(SYNE1):c.7537T>G (p.Cys2513Gly)
|
rs1271079717
|
0.00001
|
|
NM_182961.4(SYNE1):c.7545A>G (p.Ser2515=)
|
rs747473998
|
0.00001
|
|
NM_182961.4(SYNE1):c.7603G>A (p.Glu2535Lys)
|
rs764800126
|
0.00001
|
|
NM_182961.4(SYNE1):c.7611G>T (p.Arg2537Ser)
|
rs568309673
|
0.00001
|
|
NM_182961.4(SYNE1):c.7704G>T (p.Leu2568=)
|
rs766042710
|
0.00001
|
|
NM_182961.4(SYNE1):c.7737G>A (p.Gln2579=)
|
rs1275065218
|
0.00001
|
|
NM_182961.4(SYNE1):c.7786C>T (p.Arg2596Cys)
|
rs768574390
|
0.00001
|
|
NM_182961.4(SYNE1):c.7797C>G (p.Ser2599=)
|
rs748909185
|
0.00001
|
|
NM_182961.4(SYNE1):c.781G>A (p.Val261Ile)
|
rs144069436
|
0.00001
|
|
NM_182961.4(SYNE1):c.7850G>A (p.Arg2617Gln)
|
rs769840610
|
0.00001
|
|
NM_182961.4(SYNE1):c.7873G>A (p.Glu2625Lys)
|
rs1186798259
|
0.00001
|
|
NM_182961.4(SYNE1):c.7879G>A (p.Glu2627Lys)
|
rs754203591
|
0.00001
|
|
NM_182961.4(SYNE1):c.7933G>A (p.Asp2645Asn)
|
rs775185806
|
0.00001
|
|
NM_182961.4(SYNE1):c.7987C>T (p.Arg2663Trp)
|
rs770461993
|
0.00001
|
|
NM_182961.4(SYNE1):c.8004+9G>A
|
rs539649819
|
0.00001
|
|
NM_182961.4(SYNE1):c.801T>C (p.Asp267=)
|
rs1211961286
|
0.00001
|
|
NM_182961.4(SYNE1):c.8041T>C (p.Leu2681=)
|
rs758296829
|
0.00001
|
|
NM_182961.4(SYNE1):c.8081G>A (p.Ser2694Asn)
|
rs1241632741
|
0.00001
|
|
NM_182961.4(SYNE1):c.8106G>T (p.Val2702=)
|
rs770378849
|
0.00001
|
|
NM_182961.4(SYNE1):c.8148C>T (p.Asp2716=)
|
rs752872189
|
0.00001
|
|
NM_182961.4(SYNE1):c.8233T>C (p.Leu2745=)
|
rs541934779
|
0.00001
|
|
NM_182961.4(SYNE1):c.8379A>G (p.Leu2793=)
|
rs768912049
|
0.00001
|
|
NM_182961.4(SYNE1):c.8385G>A (p.Ala2795=)
|
rs267600863
|
0.00001
|
|
NM_182961.4(SYNE1):c.8532G>A (p.Met2844Ile)
|
rs794727764
|
0.00001
|
|
NM_182961.4(SYNE1):c.8571T>C (p.His2857=)
|
rs886061207
|
0.00001
|
|
NM_182961.4(SYNE1):c.8593C>T (p.Arg2865Trp)
|
rs757720748
|
0.00001
|
|
NM_182961.4(SYNE1):c.8625C>T (p.Ala2875=)
|
rs759736838
|
0.00001
|
|
NM_182961.4(SYNE1):c.8637G>A (p.Lys2879=)
|
rs146288148
|
0.00001
|
|
NM_182961.4(SYNE1):c.863C>T (p.Ala288Val)
|
rs746752458
|
0.00001
|
|
NM_182961.4(SYNE1):c.8762C>T (p.Thr2921Met)
|
rs371229610
|
0.00001
|
|
NM_182961.4(SYNE1):c.8780G>A (p.Arg2927His)
|
rs148998248
|
0.00001
|
|
NM_182961.4(SYNE1):c.8785G>A (p.Asp2929Asn)
|
rs143313866
|
0.00001
|
|
NM_182961.4(SYNE1):c.8814C>T (p.Phe2938=)
|
rs780165911
|
0.00001
|
|
NM_182961.4(SYNE1):c.8820G>T (p.Thr2940=)
|
rs769247891
|
0.00001
|
|
NM_182961.4(SYNE1):c.8844C>T (p.Val2948=)
|
rs750603610
|
0.00001
|
|
NM_182961.4(SYNE1):c.8851A>G (p.Met2951Val)
|
rs1202916520
|
0.00001
|
|
NM_182961.4(SYNE1):c.8862G>A (p.Ser2954=)
|
rs139845890
|
0.00001
|
|
NM_182961.4(SYNE1):c.8905C>G (p.Leu2969Val)
|
rs753512972
|
0.00001
|
|
NM_182961.4(SYNE1):c.8918G>A (p.Ser2973Asn)
|
rs766072795
|
0.00001
|
|
NM_182961.4(SYNE1):c.8937G>C (p.Trp2979Cys)
|
rs760074927
|
0.00001
|
|
NM_182961.4(SYNE1):c.8994C>T (p.Cys2998=)
|
rs143974384
|
0.00001
|
|
NM_182961.4(SYNE1):c.9040C>T (p.Pro3014Ser)
|
rs200939886
|
0.00001
|
|
NM_182961.4(SYNE1):c.9046A>G (p.Thr3016Ala)
|
rs2097290792
|
0.00001
|
|
NM_182961.4(SYNE1):c.9169G>A (p.Gly3057Ser)
|
rs766846025
|
0.00001
|
|
NM_182961.4(SYNE1):c.9170G>A (p.Gly3057Asp)
|
rs761071366
|
0.00001
|
|
NM_182961.4(SYNE1):c.9194T>C (p.Leu3065Ser)
|
rs2097283921
|
0.00001
|
|
NM_182961.4(SYNE1):c.9255C>T (p.Ile3085=)
|
rs746663201
|
0.00001
|
|
NM_182961.4(SYNE1):c.9261C>T (p.Thr3087=)
|
rs199554198
|
0.00001
|
|
NM_182961.4(SYNE1):c.9280C>A (p.Pro3094Thr)
|
rs1591443794
|
0.00001
|
|
NM_182961.4(SYNE1):c.9349G>A (p.Gly3117Arg)
|
rs566953005
|
0.00001
|
|
NM_182961.4(SYNE1):c.9355C>T (p.His3119Tyr)
|
rs373615823
|
0.00001
|
|
NM_182961.4(SYNE1):c.9435C>G (p.Ala3145=)
|
rs750286179
|
0.00001
|
|
NM_182961.4(SYNE1):c.9472C>A (p.His3158Asn)
|
rs1484236534
|
0.00001
|
|
NM_182961.4(SYNE1):c.9507+18C>T
|
rs769887324
|
0.00001
|
|
NM_182961.4(SYNE1):c.9507+6T>C
|
rs372138410
|
0.00001
|
|
NM_182961.4(SYNE1):c.9577G>A (p.Glu3193Lys)
|
rs761121679
|
0.00001
|
|
NM_182961.4(SYNE1):c.9584T>C (p.Met3195Thr)
|
rs1398398021
|
0.00001
|
|
NM_182961.4(SYNE1):c.9616C>A (p.Leu3206Met)
|
rs587777426
|
0.00001
|
|
NM_182961.4(SYNE1):c.962A>G (p.Lys321Arg)
|
rs1295360409
|
0.00001
|
|
NM_182961.4(SYNE1):c.9726A>G (p.Glu3242=)
|
rs990051448
|
0.00001
|
|
NM_182961.4(SYNE1):c.9832A>G (p.Ile3278Val)
|
rs774469372
|
0.00001
|
|
NM_182961.4(SYNE1):c.9857C>T (p.Ser3286Phe)
|
rs770774159
|
0.00001
|
|
NM_182961.4(SYNE1):c.9926C>T (p.Pro3309Leu)
|
rs559031643
|
0.00001
|
|
NM_182961.4(SYNE1):c.9933C>T (p.Ser3311=)
|
rs759403157
|
0.00001
|
|
NM_182961.4(SYNE1):c.9941G>A (p.Ser3314Asn)
|
rs1188481121
|
0.00001
|
|
NC_000001.10:g.(?_112524223)_(112525348_?)dup
|
|
|
|
NC_000002.11:g.(?_202334676)_(202523241_?)dup
|
|
|
|
NC_000002.11:g.(?_202466462)_(202508123_?)del
|
|
|
|
NC_000002.11:g.(?_202488978)_(202508123_?)dup
|
|
|
|
NC_000002.11:g.(?_202496774)_(202498154_?)del
|
|
|
|
NC_000002.11:g.(?_202501451)_(202633608_?)del
|
|
|
|
NC_000002.11:g.(?_202508062)_(202508123_?)del
|
|
|
|
NC_000002.11:g.(?_219646906)_(219647180_?)del
|
|
|
|
NC_000002.11:g.(?_219646906)_(219738567_?)del
|
|
|
|
NC_000002.11:g.(?_219674280)_(219679753_?)del
|
|
|
|
NC_000002.11:g.(?_219679083)_(219679753_?)del
|
|
|
|
NC_000002.11:g.(?_219679093)_(219679763_?)del
|
|
|
|
NC_000002.12:g.(?_201618900)_(201647825_?)del
|
|
|
|
NC_000002.12:g.(?_218809567)_(218809777_?)del
|
|
|
|
NC_000002.12:g.218812223dup
|
|
|
|
NC_000006.11:g.(?_152443551)_(152534914_?)dup
|
|
|
|
NC_000006.11:g.(?_152466612)_(152643033_?)dup
|
|
|
|
NC_000006.11:g.(?_152485278)_(152485480_?)del
|
|
|
|
NC_000006.11:g.(?_152527283)_(152532743_?)del
|
|
|
|
NC_000006.11:g.(?_152599204)_(152603135_?)dup
|
|
|
|
NC_000006.11:g.(?_152652198)_(152658654_?)del
|
|
|
|
NC_000006.11:g.(?_152716631)_(152765733_?)dup
|
|
|
|
NC_000006.12:g.(?_152122416)_(153426916_?)del
|
|
|
|
NC_000008.10:g.(?_67786376)_(68165857_?)dup
|
|
|
|
NC_000008.10:g.(?_67976634)_(68071392_?)dup
|
|
|
|
NC_000008.10:g.(?_67976634)_(68658364_?)del
|
|
|
|
NC_000008.10:g.(?_67998222)_(67998365_?)del
|
|
|
|
NC_000008.10:g.(?_68015252)_(68015390_?)dup
|
|
|
|
NC_000008.10:g.(?_68018120)_(68071392_?)dup
|
|
|
|
NC_000008.10:g.(?_68024187)_(68044335_?)dup
|
|
|
|
NC_000008.10:g.(?_68024187)_(68107828_?)dup
|
|
|
|
NC_000008.10:g.(?_68024187)_(68107848_?)dup
|
|
|
|
NC_000008.10:g.(?_68024197)_(68107828_?)dup
|
|
|
|
NC_000008.10:g.(?_68044166)_(68044335_?)del
|
|
|
|
NC_000008.10:g.(?_68070662)_(68071392_?)del
|
|
|
|
NC_000008.10:g.(?_68105679)_(68105857_?)del
|
|
|
|
NC_000008.11:g.(?_67010715)_(67064496_?)dup
|
|
|
|
NC_000008.11:g.(?_67111972)_(67218138_?)dup
|
|
|
|
NC_000008.11:g.(?_67193464)_(67193602_?)del
|
|
|
|
NC_000008.11:g.67195383TGA[3]
|
rs772729206
|
|
|
NC_000009.11:g.(?_135156834)_(135156981_?)del
|
|
|
|
NC_000009.11:g.(?_135201691)_(135210134_?)del
|
|
|
|
NC_000009.11:g.(?_135209975)_(135210134_?)dup
|
|
|
|
NC_000009.12:g.(?_132264229)_(132349438_?)dup
|
|
|
|
NC_000010.10:g.(?_104262628)_(104309873_?)dup
|
|
|
|
NC_000010.10:g.(?_104262628)_(104595248_?)del
|
|
|
|
NC_000010.10:g.(?_104262628)_(104595248_?)dup
|
|
|
|
NC_000010.10:g.(?_104263900)_(104389922_?)del
|
|
|
|
NC_000010.10:g.(?_104352329)_(104352491_?)del
|
|
|
|
NC_000010.10:g.(?_104352329)_(104353832_?)del
|
|
|
|
NC_000010.10:g.(?_104352329)_(104377195_?)dup
|
|
|
|
NC_000010.10:g.(?_104375015)_(104389912_?)del
|
|
|
|
NC_000010.10:g.(?_104386922)_(104392580_?)del
|
|
|
|
NC_000010.11:g.(?_102504143)_(102550116_?)del
|
|
|
|
NC_000010.11:g.(?_102549960)_(102550116_?)del
|
|
|
|
NC_000010.11:g.(?_102593630)_(102597299_?)del
|
|
|
|
NC_000011.9:g.(?_61133497)_(61133708_?)del
|
|
|
|
NC_000014.8:g.(?_58711639)_(59014694_?)del
|
|
|
|
NC_000014.8:g.(?_58894347)_(58894375_?)del
|
|
|
|
NC_000014.8:g.(?_58894347)_(58899195_?)dup
|
|
|
|
NC_000014.8:g.(?_58894347)_(59014694_?)dup
|
|
|
|
NC_000014.8:g.(?_58896061)_(58899195_?)dup
|
|
|
|
NC_000014.8:g.(?_58910652)_(58910913_?)del
|
|
|
|
NC_000014.8:g.(?_58910652)_(58917484_?)dup
|
|
|
|
NC_000014.8:g.(?_58926541)_(58927898_?)del
|
|
|
|
NC_000014.8:g.(?_58938897)_(58941535_?)del
|
|
|
|
NC_000014.8:g.(?_58949211)_(58949450_?)dup
|
|
|
|
NC_000014.8:g.(?_58951496)_(58953792_?)del
|
|
|
|
NC_000014.8:g.(?_58975253)_(58975447_?)del
|
|
|
|
NC_000014.8:g.(?_59010581)_(59014694_?)dup
|
|
|
|
NC_000014.9:g.(?_58443934)_(58450766_?)del
|
|
|
|
NC_000014.9:g.(?_58448320)_(58450766_?)dup
|
|
|
|
NC_000016.10:g.(?_75539974)_(75545515_?)del
|
|
|
|
NC_000016.10:g.(?_78099759)_(78099909_?)del
|
|
|
|
NC_000016.10:g.(?_78099759)_(78115174_?)del
|
|
|
|
NC_000016.10:g.(?_78099759)_(78432772_?)del
|
|
|
|
NC_000016.10:g.(?_78164163)_(78164309_?)del
|
|
|
|
NC_000016.10:g.(?_78278583)_(78386968_?)del
|
|
|
|
NC_000016.10:g.(?_78278583)_(78432772_?)del
|
|
|
|
NC_000016.10:g.(?_78386840)_(78386968_?)del
|
|
|
|
NC_000016.10:g.(?_78386840)_(78432772_?)del
|
|
|
|
NC_000016.10:g.(?_78386840)_(78432772_?)dup
|
|
|
|
NC_000016.10:g.(?_78386840)_(78624496_?)dup
|
|
|
|
NC_000016.10:g.(?_78424850)_(78425075_?)del
|
|
|
|
NC_000016.10:g.(?_78424850)_(78432772_?)del
|
|
|
|
NC_000016.10:g.(?_78432468)_(78432772_?)del
|
|
|
|
NC_000016.10:g.(?_79211588)_(79211816_?)del
|
|
|
|
NC_000016.9:g.(?_75490611)_(75576599_?)del
|
|
|
|
NC_000016.9:g.(?_75512539)_(75576601_?)del
|
|
|
|
NC_000016.9:g.(?_75573872)_(75579413_?)dup
|
|
|
|
NC_000016.9:g.(?_75573891)_(75579393_?)dup
|
|
|
|
NC_000016.9:g.(?_75573892)_(75574092_?)del
|
|
|
|
NC_000016.9:g.(?_75573892)_(75575373_?)del
|
|
|
|
NC_000016.9:g.(?_75573892)_(75575373_?)dup
|
|
|
|
NC_000016.9:g.(?_75573892)_(75576601_?)dup
|
|
|
|
NC_000016.9:g.(?_75573892)_(75579403_?)dup
|
|
|
|
NC_000016.9:g.(?_75573892)_(75579413_?)del
|
|
|
|
NC_000016.9:g.(?_75573892)_(75579413_?)dup
|
|
|
|
NC_000016.9:g.(?_75573892)_(75579872_?)dup
|
|
|
|
NC_000016.9:g.(?_75573892)_(75690509_?)del
|
|
|
|
NC_000016.9:g.(?_75575228)_(75579413_?)dup
|
|
|
|
NC_000016.9:g.(?_75579704)_(75590169_?)dup
|
|
|
|
NC_000016.9:g.(?_75589682)_(75590169_?)del
|
|
|
|
NC_000016.9:g.(?_75589682)_(75690509_?)dup
|
|
|
|
NC_000016.9:g.(?_78133656)_(78133806_?)dup
|
|
|
|
NC_000016.9:g.(?_78133656)_(78149071_?)dup
|
|
|
|
NC_000016.9:g.(?_78133656)_(78458972_?)dup
|
|
|
|
NC_000016.9:g.(?_78133656)_(78466669_?)dup
|
|
|
|
NC_000016.9:g.(?_78133656)_(78658393_?)dup
|
|
|
|
NC_000016.9:g.(?_78133671)_(78149061_?)del
|
|
|
|
NC_000016.9:g.(?_78133671)_(78466659_?)dup
|
|
|
|
NC_000016.9:g.(?_78133676)_(78420865_?)dup
|
|
|
|
NC_000016.9:g.(?_78133676)_(78466669_?)dup
|
|
|
|
NC_000016.9:g.(?_78133676)_(79633799_?)del
|
|
|
|
NC_000016.9:g.(?_78142310)_(78142394_?)del
|
|
|
|
NC_000016.9:g.(?_78148853)_(78149071_?)del
|
|
|
|
NC_000016.9:g.(?_78148853)_(78198206_?)del
|
|
|
|
NC_000016.9:g.(?_78148926)_(78166880_?)del
|
|
|
|
NC_000016.9:g.(?_78312480)_(78466669_?)dup
|
|
|
|
NC_000016.9:g.(?_78312480)_(78658393_?)dup
|
|
|
|
NC_000016.9:g.(?_78352643)_(78420837_?)dup
|
|
|
|
NC_000016.9:g.(?_78420737)_(78458972_?)del
|
|
|
|
NC_000016.9:g.(?_78420747)_(78458962_?)del
|
|
|
|
NC_000016.9:g.(?_78420747)_(78466659_?)del
|
|
|
|
NC_000016.9:g.(?_78458747)_(78466669_?)dup
|
|
|
|
NM_000784.4(CYP27A1):c.1005del (p.Gly336fs)
|
rs1575206357
|
|
|
NM_000784.4(CYP27A1):c.1010T>C (p.Val337Ala)
|
rs759622995
|
|
|
NM_000784.4(CYP27A1):c.1016C>A (p.Thr339Lys)
|
|
|
|
NM_000784.4(CYP27A1):c.1017+10G>T
|
|
|
|
NM_000784.4(CYP27A1):c.1017+11G>C
|
rs766039123
|
|
|
NM_000784.4(CYP27A1):c.1017+11G>T
|
rs766039123
|
|
|
NM_000784.4(CYP27A1):c.1017+14G>C
|
rs1196582375
|
|
|
NM_000784.4(CYP27A1):c.1017+14del
|
rs372792485
|
|
|
NM_000784.4(CYP27A1):c.1017+15_1017+18del
|
rs1679085939
|
|
|
NM_000784.4(CYP27A1):c.1017+17G>A
|
rs1431354879
|
|
|
NM_000784.4(CYP27A1):c.1017+17G>T
|
|
|
|
NM_000784.4(CYP27A1):c.1017+18G>T
|
|
|
|
NM_000784.4(CYP27A1):c.1017+1del
|
rs1559392904
|
|
|
NM_000784.4(CYP27A1):c.1017+5G>C
|
rs370304209
|
|
|
NM_000784.4(CYP27A1):c.1018-11C>G
|
|
|
|
NM_000784.4(CYP27A1):c.1018-16C>T
|
|
|
|
NM_000784.4(CYP27A1):c.1018-19C>A
|
|
|
|
NM_000784.4(CYP27A1):c.1018-19C>T
|
|
|
|
NM_000784.4(CYP27A1):c.1018-1G>C
|
rs1575206658
|
|
|
NM_000784.4(CYP27A1):c.1018-4C>G
|
|
|
|
NM_000784.4(CYP27A1):c.1018-4C>T
|
|
|
|
NM_000784.4(CYP27A1):c.1018-8T>C
|
rs1943753198
|
|
|
NM_000784.4(CYP27A1):c.1026C>T (p.Asn342=)
|
|
|
|
NM_000784.4(CYP27A1):c.1028C>G (p.Thr343Arg)
|
rs372194079
|
|
|
NM_000784.4(CYP27A1):c.1029G>T (p.Thr343=)
|
rs771343931
|
|
|
NM_000784.4(CYP27A1):c.102C>T (p.Ala34=)
|
rs773208703
|
|
|
NM_000784.4(CYP27A1):c.1030C>T (p.Leu344=)
|
|
|
|
NM_000784.4(CYP27A1):c.1035A>G (p.Thr345=)
|
|
|
|
NM_000784.4(CYP27A1):c.1037G>A (p.Trp346Ter)
|
|
|
|
NM_000784.4(CYP27A1):c.1041C>T (p.Ala347=)
|
|
|
|
NM_000784.4(CYP27A1):c.1044G>A (p.Leu348=)
|
rs776794344
|
|
|
NM_000784.4(CYP27A1):c.1048C>T (p.His350Tyr)
|
|
|
|
NM_000784.4(CYP27A1):c.104T>C (p.Leu35Pro)
|
rs2106479125
|
|
|
NM_000784.4(CYP27A1):c.1052T>G (p.Leu351Arg)
|
rs1470602732
|
|
|
NM_000784.4(CYP27A1):c.1053C>G (p.Leu351=)
|
|
|
|
NM_000784.4(CYP27A1):c.105C>T (p.Leu35=)
|
|
|
|
NM_000784.4(CYP27A1):c.1060G>A (p.Asp354Asn)
|
rs2105980881
|
|
|
NM_000784.4(CYP27A1):c.1064del (p.Pro355fs)
|
rs1575206688
|
|
|
NM_000784.4(CYP27A1):c.1065T>C (p.Pro355=)
|
|
|
|
NM_000784.4(CYP27A1):c.1068_1072dup (p.Gln358fs)
|
|
|
|
NM_000784.4(CYP27A1):c.1074G>A (p.Gln358=)
|
rs2105980889
|
|
|
NM_000784.4(CYP27A1):c.1075G>A (p.Glu359Lys)
|
rs760471205
|
|
|
NM_000784.4(CYP27A1):c.1076A>C (p.Glu359Ala)
|
|
|
|
NM_000784.4(CYP27A1):c.1078G>C (p.Ala360Pro)
|
rs1463950337
|
|
|
NM_000784.4(CYP27A1):c.1080C>T (p.Ala360=)
|
|
|
|
NM_000784.4(CYP27A1):c.1081T>C (p.Leu361=)
|
|
|
|
NM_000784.4(CYP27A1):c.1085A>G (p.His362Arg)
|
rs886043798
|
|
|
NM_000784.4(CYP27A1):c.1086C>A (p.His362Gln)
|
rs139426361
|
|
|
NM_000784.4(CYP27A1):c.1087G>A (p.Glu363Lys)
|
|
|
|
NM_000784.4(CYP27A1):c.1087G>T (p.Glu363Ter)
|
rs72551321
|
|
|
NM_000784.4(CYP27A1):c.108C>G (p.Pro36=)
|
|
|
|
NM_000784.4(CYP27A1):c.108C>T (p.Pro36=)
|
rs760334139
|
|
|
NM_000784.4(CYP27A1):c.1095G>A (p.Val365=)
|
rs1045010358
|
|
|
NM_000784.4(CYP27A1):c.1099_1102dup (p.Val368fs)
|
|
|
|
NM_000784.4(CYP27A1):c.1107G>A (p.Val369=)
|
rs2105980920
|
|
|
NM_000784.4(CYP27A1):c.1109C>T (p.Pro370Leu)
|
rs2105980922
|
|
|
NM_000784.4(CYP27A1):c.110C>G (p.Ser37Trp)
|
rs1559384559
|
|
|
NM_000784.4(CYP27A1):c.1112C>T (p.Ala371Val)
|
|
|
|
NM_000784.4(CYP27A1):c.1113C>G (p.Ala371=)
|
|
|
|
NM_000784.4(CYP27A1):c.1114G>T (p.Gly372Trp)
|
rs369969903
|
|
|
NM_000784.4(CYP27A1):c.1116G>A (p.Gly372=)
|
|
|
|
NM_000784.4(CYP27A1):c.1116G>C (p.Gly372=)
|
rs1943755876
|
|
|
NM_000784.4(CYP27A1):c.1116G>T (p.Gly372=)
|
rs1943755876
|
|
|
NM_000784.4(CYP27A1):c.1116del (p.Gln373fs)
|
|
|
|
NM_000784.4(CYP27A1):c.1117C>A (p.Gln373Lys)
|
rs536176295
|
|
|
NM_000784.4(CYP27A1):c.111G>C (p.Ser37=)
|
|
|
|
NM_000784.4(CYP27A1):c.1121T>A (p.Val374Glu)
|
rs1943755995
|
|
|
NM_000784.4(CYP27A1):c.1126del (p.Gln376fs)
|
|
|
|
NM_000784.4(CYP27A1):c.1130A>G (p.His377Arg)
|
|
|
|
NM_000784.4(CYP27A1):c.1134G>A (p.Lys378=)
|
|
|
|
NM_000784.4(CYP27A1):c.1140del (p.Phe380fs)
|
|
|
|
NM_000784.4(CYP27A1):c.1145A>C (p.His382Pro)
|
|
|
|
NM_000784.4(CYP27A1):c.1146C>T (p.His382=)
|
|
|
|
NM_000784.4(CYP27A1):c.115A>T (p.Lys39Ter)
|
|
|
|
NM_000784.4(CYP27A1):c.1162G>T (p.Ala388Ser)
|
|
|
|
NM_000784.4(CYP27A1):c.1165G>A (p.Val389Met)
|
rs2105980957
|
|
|
NM_000784.4(CYP27A1):c.1167G>A (p.Val389=)
|
|
|
|
NM_000784.4(CYP27A1):c.1170T>G (p.Leu390=)
|
|
|
|
NM_000784.4(CYP27A1):c.1170del (p.Lys391fs)
|
|
|
|
NM_000784.4(CYP27A1):c.1174G>C (p.Glu392Gln)
|
|
|
|
NM_000784.4(CYP27A1):c.117G>A (p.Lys39=)
|
|
|
|
NM_000784.4(CYP27A1):c.1180_1181del (p.Leu394fs)
|
rs1178393503
|
|
|
NM_000784.4(CYP27A1):c.1182G>A (p.Leu394=)
|
rs1421364979
|
|
|
NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser)
|
rs121908096
|
|
|
NM_000784.4(CYP27A1):c.1184+16G>A
|
|
|
|
NM_000784.4(CYP27A1):c.1184+16G>C
|
rs1445661658
|
|
|
NM_000784.4(CYP27A1):c.1184+16G>T
|
rs1445661658
|
|
|
NM_000784.4(CYP27A1):c.1184+1G>C
|
rs587778777
|
|
|
NM_000784.4(CYP27A1):c.1184+20T>C
|
|
|
|
NM_000784.4(CYP27A1):c.1184+3A>G
|
rs1943757633
|
|
|
NM_000784.4(CYP27A1):c.1184+7C>G
|
rs1575206765
|
|
|
NM_000784.4(CYP27A1):c.1184+7C>T
|
rs1575206765
|
|
|
NM_000784.4(CYP27A1):c.1184+9G>A
|
rs200457116
|
|
|
NM_000784.4(CYP27A1):c.1184+9G>C
|
rs200457116
|
|
|
NM_000784.4(CYP27A1):c.1185-18A>G
|
|
|
|
NM_000784.4(CYP27A1):c.1185-19G>A
|
|
|
|
NM_000784.4(CYP27A1):c.1185-1G>T
|
rs587778779
|
|
|
NM_000784.4(CYP27A1):c.1185-2A>G
|
rs1553616457
|
|
|
NM_000784.4(CYP27A1):c.1185-2A>T
|
rs1553616457
|
|
|
NM_000784.4(CYP27A1):c.1185-4G>A
|
rs776459243
|
|
|
NM_000784.4(CYP27A1):c.1185-4G>T
|
rs776459243
|
|
|
NM_000784.4(CYP27A1):c.1185-5T>C
|
rs2105981044
|
|
|
NM_000784.4(CYP27A1):c.1188C>T (p.Leu396=)
|
rs1271161678
|
|
|
NM_000784.4(CYP27A1):c.1191C>A (p.Tyr397Ter)
|
rs2105981050
|
|
|
NM_000784.4(CYP27A1):c.1191C>T (p.Tyr397=)
|
|
|
|
NM_000784.4(CYP27A1):c.1193del (p.Pro398fs)
|
|
|
|
NM_000784.4(CYP27A1):c.1196T>C (p.Val399Ala)
|
rs2105981055
|
|
|
NM_000784.4(CYP27A1):c.1196T>G (p.Val399Gly)
|
|
|
|
NM_000784.4(CYP27A1):c.11_20dup (p.Arg8fs)
|
rs886041342
|
|
|
NM_000784.4(CYP27A1):c.1203C>A (p.Pro401=)
|
|
|
|
NM_000784.4(CYP27A1):c.1209C>G (p.Asn403Lys)
|
rs587778781
|
|
|
NM_000784.4(CYP27A1):c.1210T>C (p.Ser404Pro)
|
|
|
|
NM_000784.4(CYP27A1):c.1212C>T (p.Ser404=)
|
|
|
|
NM_000784.4(CYP27A1):c.1215G>A (p.Arg405=)
|
|
|
|
NM_000784.4(CYP27A1):c.1215G>T (p.Arg405=)
|
|
|
|
NM_000784.4(CYP27A1):c.1218C>T (p.Ile406=)
|
|
|
|
NM_000784.4(CYP27A1):c.1221A>T (p.Ile407=)
|
rs767002858
|
|
|
NM_000784.4(CYP27A1):c.1231A>T (p.Ile411Phe)
|
rs1943764288
|
|
|
NM_000784.4(CYP27A1):c.1232T>C (p.Ile411Thr)
|
|
|
|
NM_000784.4(CYP27A1):c.1238T>C (p.Val413Ala)
|
|
|
|
NM_000784.4(CYP27A1):c.1239T>G (p.Val413=)
|
|
|
|
NM_000784.4(CYP27A1):c.1239dup (p.Asp414Ter)
|
rs2105981099
|
|
|
NM_000784.4(CYP27A1):c.123C>T (p.Thr41=)
|
rs2106479141
|
|
|
NM_000784.4(CYP27A1):c.1241A>G (p.Asp414Gly)
|
rs2105981100
|
|
|
NM_000784.4(CYP27A1):c.1244G>C (p.Gly415Ala)
|
rs755343859
|
|
|
NM_000784.4(CYP27A1):c.1247T>C (p.Phe416Ser)
|
|
|
|
NM_000784.4(CYP27A1):c.124G>A (p.Gly42Arg)
|
rs2106479143
|
|
|
NM_000784.4(CYP27A1):c.1263+10del
|
rs765426068
|
|
|
NM_000784.4(CYP27A1):c.1263+14G>C
|
|
|
|
NM_000784.4(CYP27A1):c.1263+19C>T
|
|
|
|
NM_000784.4(CYP27A1):c.1263+1G>T
|
|
|
|
NM_000784.4(CYP27A1):c.1263+5G>A
|
|
|
|
NM_000784.4(CYP27A1):c.1264-14A>G
|
rs1285698631
|
|
|
NM_000784.4(CYP27A1):c.1264-1G>A
|
rs587778785
|
|
|
NM_000784.4(CYP27A1):c.1264-5T>G
|
|
|
|
NM_000784.4(CYP27A1):c.1264-6T>C
|
rs2105981164
|
|
|
NM_000784.4(CYP27A1):c.1264-7T>G
|
|
|
|
NM_000784.4(CYP27A1):c.1264-8C>T
|
rs2105981161
|
|
|
NM_000784.4(CYP27A1):c.1266C>A (p.Thr422=)
|
rs2105981167
|
|
|
NM_000784.4(CYP27A1):c.1266C>T (p.Thr422=)
|
|
|
|
NM_000784.4(CYP27A1):c.1269G>A (p.Gln423=)
|
|
|
|
NM_000784.4(CYP27A1):c.1273G>C (p.Val425Leu)
|
|
|
|
NM_000784.4(CYP27A1):c.1273G>T (p.Val425Leu)
|
|
|
|
NM_000784.4(CYP27A1):c.1275G>A (p.Val425=)
|
|
|
|
NM_000784.4(CYP27A1):c.1281C>T (p.Cys427=)
|
|
|
|
NM_000784.4(CYP27A1):c.1282C>T (p.His428Tyr)
|
rs749202662
|
|
|
NM_000784.4(CYP27A1):c.1284C>T (p.His428=)
|
rs1653127444
|
|
|
NM_000784.4(CYP27A1):c.1286A>C (p.Tyr429Ser)
|
rs774127681
|
|
|
NM_000784.4(CYP27A1):c.1293G>A (p.Val431=)
|
|
|
|
NM_000784.4(CYP27A1):c.1296C>T (p.Ser432=)
|
rs1943766681
|
|
|
NM_000784.4(CYP27A1):c.1300G>C (p.Asp434His)
|
|
|
|
NM_000784.4(CYP27A1):c.1301A>C (p.Asp434Ala)
|
|
|
|
NM_000784.4(CYP27A1):c.130C>T (p.Pro44Ser)
|
rs923201483
|
|
|
NM_000784.4(CYP27A1):c.1312T>G (p.Phe438Val)
|
|
|
|
NM_000784.4(CYP27A1):c.1320G>A (p.Glu440=)
|
|
|
|
NM_000784.4(CYP27A1):c.1323T>C (p.Pro441=)
|
rs2105981217
|
|
|
NM_000784.4(CYP27A1):c.1328G>T (p.Ser443Ile)
|
|
|
|
NM_000784.4(CYP27A1):c.1329C>T (p.Ser443=)
|
rs2105981221
|
|
|
NM_000784.4(CYP27A1):c.132C>G (p.Pro44=)
|
rs933195273
|
|
|
NM_000784.4(CYP27A1):c.132C>T (p.Pro44=)
|
rs933195273
|
|
|
NM_000784.4(CYP27A1):c.1330_1333del (p.Phe444fs)
|
|
|
|
NM_000784.4(CYP27A1):c.1332C>T (p.Phe444=)
|
rs760024535
|
|
|
NM_000784.4(CYP27A1):c.1333C>T (p.Gln445Ter)
|
rs1325218192
|
|
|
NM_000784.4(CYP27A1):c.1336C>G (p.Pro446Ala)
|
rs753166698
|
|
|
NM_000784.4(CYP27A1):c.1336C>T (p.Pro446Ser)
|
|
|
|
NM_000784.4(CYP27A1):c.1339_1342dup (p.Arg448fs)
|
rs2105981231
|
|
|
NM_000784.4(CYP27A1):c.1342C>A (p.Arg448Ser)
|
rs730882199
|
|
|
NM_000784.4(CYP27A1):c.1343G>T (p.Arg448Leu)
|
|
|
|
NM_000784.4(CYP27A1):c.1348C>G (p.Leu450Val)
|
rs1039198612
|
|
|
NM_000784.4(CYP27A1):c.1356C>T (p.Asn452=)
|
rs527395716
|
|
|
NM_000784.4(CYP27A1):c.1371C>T (p.Thr457=)
|
rs1177463640
|
|
|
NM_000784.4(CYP27A1):c.1374C>T (p.Pro458=)
|
|
|
|
NM_000784.4(CYP27A1):c.1374del (p.Arg459fs)
|
rs751969035
|
|
|
NM_000784.4(CYP27A1):c.1375del (p.Arg459fs)
|
|
|
|
NM_000784.4(CYP27A1):c.1379T>G (p.Ile460Ser)
|
|
|
|
NM_000784.4(CYP27A1):c.1380C>T (p.Ile460=)
|
|
|
|
NM_000784.4(CYP27A1):c.1381C>T (p.Gln461Ter)
|
rs771819245
|
|
|
NM_000784.4(CYP27A1):c.1391T>G (p.Phe464Cys)
|
rs2105981257
|
|
|
NM_000784.4(CYP27A1):c.1394G>A (p.Gly465Asp)
|
rs777432192
|
|
|
NM_000784.4(CYP27A1):c.1394G>T (p.Gly465Val)
|
rs777432192
|
|
|
NM_000784.4(CYP27A1):c.1399G>C (p.Val467Leu)
|
rs2105981259
|
|
|
NM_000784.4(CYP27A1):c.1404C>T (p.Pro468=)
|
|
|
|
NM_000784.4(CYP27A1):c.1409G>T (p.Gly470Val)
|
|
|
|
NM_000784.4(CYP27A1):c.1410C>T (p.Gly470=)
|
rs770435184
|
|
|
NM_000784.4(CYP27A1):c.1412A>T (p.Tyr471Phe)
|
|
|
|
NM_000784.4(CYP27A1):c.1415G>A (p.Gly472Glu)
|
rs200883871
|
|
|
NM_000784.4(CYP27A1):c.1416G>A (p.Gly472=)
|
|
|
|
NM_000784.4(CYP27A1):c.1416G>T (p.Gly472=)
|
|
|
|
NM_000784.4(CYP27A1):c.1416_1423del (p.Val473fs)
|
|
|
|
NM_000784.4(CYP27A1):c.141G>A (p.Gly47=)
|
|
|
|
NM_000784.4(CYP27A1):c.1421G>C (p.Arg474Pro)
|
|
|
|
NM_000784.4(CYP27A1):c.1422G>A (p.Arg474=)
|
|
|
|
NM_000784.4(CYP27A1):c.1425C>A (p.Ala475=)
|
rs1008075672
|
|
|
NM_000784.4(CYP27A1):c.1425C>T (p.Ala475=)
|
|
|
|
NM_000784.4(CYP27A1):c.1427G>A (p.Cys476Tyr)
|
rs1372707807
|
|
|
NM_000784.4(CYP27A1):c.1434_1435delinsAA (p.Arg479Ser)
|
rs2105981299
|
|
|
NM_000784.4(CYP27A1):c.1435C>A (p.Arg479Ser)
|
rs72551322
|
|
|
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly)
|
rs72551322
|
|
|
NM_000784.4(CYP27A1):c.1435C>T (p.Arg479Cys)
|
rs72551322
|
|
|
NM_000784.4(CYP27A1):c.1436G>A (p.Arg479His)
|
rs199638075
|
|
|
NM_000784.4(CYP27A1):c.1436G>C (p.Arg479Pro)
|
|
|
|
NM_000784.4(CYP27A1):c.1436G>T (p.Arg479Leu)
|
rs199638075
|
|
|
NM_000784.4(CYP27A1):c.1440G>C (p.Arg480Ser)
|
|
|
|
NM_000784.4(CYP27A1):c.1444G>T (p.Ala482Ser)
|
|
|
|
NM_000784.4(CYP27A1):c.1446A>G (p.Ala482=)
|
rs2105981315
|
|
|
NM_000784.4(CYP27A1):c.1449G>A (p.Glu483=)
|
|
|
|
NM_000784.4(CYP27A1):c.1456A>T (p.Met486Leu)
|
rs150585977
|
|
|
NM_000784.4(CYP27A1):c.1457T>C (p.Met486Thr)
|
rs2105981320
|
|
|
NM_000784.4(CYP27A1):c.1459C>T (p.Gln487Ter)
|
rs1943770060
|
|
|
NM_000784.4(CYP27A1):c.1461G>A (p.Gln487=)
|
|
|
|
NM_000784.4(CYP27A1):c.1462C>T (p.Leu488=)
|
rs1943770169
|
|
|
NM_000784.4(CYP27A1):c.1463T>C (p.Leu488Pro)
|
|
|
|
NM_000784.4(CYP27A1):c.1464A>G (p.Leu488=)
|
|
|
|
NM_000784.4(CYP27A1):c.1466T>A (p.Leu489His)
|
rs2105981325
|
|
|
NM_000784.4(CYP27A1):c.1467C>G (p.Leu489=)
|
|
|
|
NM_000784.4(CYP27A1):c.1467C>T (p.Leu489=)
|
rs1324313458
|
|
|
NM_000784.4(CYP27A1):c.1468del (p.Leu490fs)
|
|
|
|
NM_000784.4(CYP27A1):c.1470C>G (p.Leu490=)
|
|
|
|
NM_000784.4(CYP27A1):c.1471G>A (p.Ala491Thr)
|
rs72551323
|
|
|
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser)
|
rs72551323
|
|
|
NM_000784.4(CYP27A1):c.1472C>T (p.Ala491Val)
|
rs1024898619
|
|
|
NM_000784.4(CYP27A1):c.1473A>C (p.Ala491=)
|
|
|
|
NM_000784.4(CYP27A1):c.1473A>G (p.Ala491=)
|
|
|
|
NM_000784.4(CYP27A1):c.1476+10G>A
|
rs1358508044
|
|
|
NM_000784.4(CYP27A1):c.1476+14G>A
|
|
|
|
NM_000784.4(CYP27A1):c.1476+15G>C
|
|
|
|
NM_000784.4(CYP27A1):c.1476+17T>C
|
|
|
|
NM_000784.4(CYP27A1):c.1476+20T>C
|
rs1575207079
|
|
|
NM_000784.4(CYP27A1):c.1476+2T>A
|
|
|
|
NM_000784.4(CYP27A1):c.1476+2T>C
|
rs1165952837
|
|
|
NM_000784.4(CYP27A1):c.1477-13C>G
|
|
|
|
NM_000784.4(CYP27A1):c.1477-13C>T
|
|
|
|
NM_000784.4(CYP27A1):c.1477-16G>T
|
|
|
|
NM_000784.4(CYP27A1):c.1477-19T>A
|
|
|
|
NM_000784.4(CYP27A1):c.1477-19T>C
|
|
|
|
NM_000784.4(CYP27A1):c.1477-20A>G
|
|
|
|
NM_000784.4(CYP27A1):c.1477-20A>T
|
rs757019811
|
|
|
NM_000784.4(CYP27A1):c.1477-2A>C
|
rs111570247
|
|
|
NM_000784.4(CYP27A1):c.1477-3C>A
|
rs78938783
|
|
|
NM_000784.4(CYP27A1):c.1477-3C>G
|
rs78938783
|
|
|
NM_000784.4(CYP27A1):c.1477-3C>T
|
rs78938783
|
|
|
NM_000784.4(CYP27A1):c.1477-3del
|
rs2105981409
|
|
|
NM_000784.4(CYP27A1):c.1477-3dup
|
|
|
|
NM_000784.4(CYP27A1):c.1477-4C>A
|
|
|
|
NM_000784.4(CYP27A1):c.1477-4C>G
|
|
|
|
NM_000784.4(CYP27A1):c.1477-4C>T
|
|
|
|
NM_000784.4(CYP27A1):c.1477-5C>G
|
|
|
|
NM_000784.4(CYP27A1):c.1477-5C>T
|
rs890298373
|
|
|
NM_000784.4(CYP27A1):c.1477-6C>A
|
|
|
|
NM_000784.4(CYP27A1):c.1477-6C>T
|
rs1182127092
|
|
|
NM_000784.4(CYP27A1):c.1477-7C>A
|
rs2105981410
|
|
|
NM_000784.4(CYP27A1):c.1477-7C>T
|
|
|
|
NM_000784.4(CYP27A1):c.1477-8C>A
|
rs1461082000
|
|
|
NM_000784.4(CYP27A1):c.1477-8C>G
|
|
|
|
NM_000784.4(CYP27A1):c.1477-9A>G
|
rs2105981405
|
|
|
NM_000784.4(CYP27A1):c.1477C>A (p.Leu493Met)
|
|
|
|
NM_000784.4(CYP27A1):c.147T>C (p.Gly49=)
|
|
|
|
NM_000784.4(CYP27A1):c.1486A>G (p.Lys496Glu)
|
|
|
|
NM_000784.4(CYP27A1):c.1497G>T (p.Val499=)
|
rs1943773164
|
|
|
NM_000784.4(CYP27A1):c.14G>A (p.Gly5Asp)
|
rs1943396793
|
|
|
NM_000784.4(CYP27A1):c.1500C>T (p.Val500=)
|
rs1268917075
|
|
|
NM_000784.4(CYP27A1):c.1506C>T (p.Ala502=)
|
|
|
|
NM_000784.4(CYP27A1):c.1508C>T (p.Pro503Leu)
|
rs776752717
|
|
|
NM_000784.4(CYP27A1):c.150C>T (p.Val50=)
|
rs1408697261
|
|
|
NM_000784.4(CYP27A1):c.1514C>A (p.Thr505Lys)
|
rs76822427
|
|
|
NM_000784.4(CYP27A1):c.1514C>T (p.Thr505Met)
|
rs76822427
|
|
|
NM_000784.4(CYP27A1):c.1517G>A (p.Gly506Glu)
|
|
|
|
NM_000784.4(CYP27A1):c.1518G>A (p.Gly506=)
|
|
|
|
NM_000784.4(CYP27A1):c.1519del (p.Glu507fs)
|
rs2105981467
|
|
|
NM_000784.4(CYP27A1):c.1521G>A (p.Glu507=)
|
|
|
|
NM_000784.4(CYP27A1):c.1524G>A (p.Leu508=)
|
rs970661282
|
|
|
NM_000784.4(CYP27A1):c.1524G>C (p.Leu508Phe)
|
rs970661282
|
|
|
NM_000784.4(CYP27A1):c.152G>A (p.Arg51Gln)
|
|
|
|
NM_000784.4(CYP27A1):c.152G>C (p.Arg51Pro)
|
rs1333445399
|
|
|
NM_000784.4(CYP27A1):c.1533G>A (p.Val511=)
|
|
|
|
NM_000784.4(CYP27A1):c.1534G>C (p.Ala512Pro)
|
|
|
|
NM_000784.4(CYP27A1):c.1538G>A (p.Arg513His)
|
rs144701596
|
|
|
NM_000784.4(CYP27A1):c.1538G>T (p.Arg513Leu)
|
rs144701596
|
|
|
NM_000784.4(CYP27A1):c.1538_1539delinsTT (p.Arg513Leu)
|
rs2105981476
|
|
|
NM_000784.4(CYP27A1):c.1539C>T (p.Arg513=)
|
rs1575207204
|
|
|
NM_000784.4(CYP27A1):c.1540A>G (p.Ile514Val)
|
rs1178180058
|
|
|
NM_000784.4(CYP27A1):c.1542T>C (p.Ile514=)
|
|
|
|
NM_000784.4(CYP27A1):c.1545C>T (p.Val515=)
|
|
|
|
NM_000784.4(CYP27A1):c.1547T>A (p.Leu516Gln)
|
|
|
|
NM_000784.4(CYP27A1):c.1548G>T (p.Leu516=)
|
rs2105981481
|
|
|
NM_000784.4(CYP27A1):c.1550T>C (p.Val517Ala)
|
|
|
|
NM_000784.4(CYP27A1):c.1559A>C (p.Lys520Thr)
|
rs1943774432
|
|
|
NM_000784.4(CYP27A1):c.1559A>G (p.Lys520Arg)
|
|
|
|
NM_000784.4(CYP27A1):c.1563del (p.Val522fs)
|
|
|
|
NM_000784.4(CYP27A1):c.1568_*118del (p.Gly523_Ter532delinsXaa)
|
|
|
|
NM_000784.4(CYP27A1):c.1573C>T (p.Gln525Ter)
|
rs374507635
|
|
|
NM_000784.4(CYP27A1):c.1575G>A (p.Gln525=)
|
|
|
|
NM_000784.4(CYP27A1):c.157C>G (p.Arg53Gly)
|
rs757522001
|
|
|
NM_000784.4(CYP27A1):c.157C>T (p.Arg53Trp)
|
|
|
|
NM_000784.4(CYP27A1):c.1589A>G (p.Gln530Arg)
|
rs911127639
|
|
|
NM_000784.4(CYP27A1):c.1591T>G (p.Cys531Gly)
|
rs1943775075
|
|
|
NM_000784.4(CYP27A1):c.1593C>T (p.Cys531=)
|
rs1481894464
|
|
|
NM_000784.4(CYP27A1):c.15C>T (p.Gly5=)
|
rs1943396825
|
|
|
NM_000784.4(CYP27A1):c.165G>A (p.Arg55=)
|
rs2106479159
|
|
|
NM_000784.4(CYP27A1):c.172GAG[1] (p.Glu59del)
|
rs766316288
|
|
|
NM_000784.4(CYP27A1):c.175G>A (p.Glu59Lys)
|
|
|
|
NM_000784.4(CYP27A1):c.181C>A (p.Pro61Thr)
|
|
|
|
NM_000784.4(CYP27A1):c.183A>C (p.Pro61=)
|
|
|
|
NM_000784.4(CYP27A1):c.185G>A (p.Arg62His)
|
|
|
|
NM_000784.4(CYP27A1):c.185G>C (p.Arg62Pro)
|
|
|
|
NM_000784.4(CYP27A1):c.187C>T (p.Leu63=)
|
|
|
|
NM_000784.4(CYP27A1):c.189A>C (p.Leu63=)
|
|
|
|
NM_000784.4(CYP27A1):c.193C>G (p.Gln65Glu)
|
rs1553614310
|
|
|
NM_000784.4(CYP27A1):c.197T>C (p.Leu66Pro)
|
rs1191317525
|
|
|
NM_000784.4(CYP27A1):c.199C>T (p.Arg67Cys)
|
rs1943400890
|
|
|
NM_000784.4(CYP27A1):c.200G>A (p.Arg67His)
|
|
|
|
NM_000784.4(CYP27A1):c.201CTT[2] (p.Phe70del)
|
rs774193477
|
|
|
NM_000784.4(CYP27A1):c.205T>C (p.Phe69Leu)
|
rs2106479175
|
|
|
NM_000784.4(CYP27A1):c.219C>A (p.Phe73Leu)
|
|
|
|
NM_000784.4(CYP27A1):c.219C>T (p.Phe73=)
|
|
|
|
NM_000784.4(CYP27A1):c.21G>A (p.Ala7=)
|
rs1289665937
|
|
|
NM_000784.4(CYP27A1):c.21G>C (p.Ala7=)
|
rs1289665937
|
|
|
NM_000784.4(CYP27A1):c.220G>C (p.Val74Leu)
|
|
|
|
NM_000784.4(CYP27A1):c.223C>A (p.Gln75Lys)
|
|
|
|
NM_000784.4(CYP27A1):c.223C>G (p.Gln75Glu)
|
|
|
|
NM_000784.4(CYP27A1):c.230A>G (p.Tyr77Cys)
|
|
|
|
NM_000784.4(CYP27A1):c.231T>C (p.Tyr77=)
|
|
|
|
NM_000784.4(CYP27A1):c.232G>C (p.Ala78Pro)
|
|
|
|
NM_000784.4(CYP27A1):c.233C>G (p.Ala78Gly)
|
rs867496731
|
|
|
NM_000784.4(CYP27A1):c.235C>T (p.Leu79=)
|
rs1387640811
|
|
|
NM_000784.4(CYP27A1):c.237G>C (p.Leu79=)
|
rs1295302612
|
|
|
NM_000784.4(CYP27A1):c.238C>T (p.Gln80Ter)
|
|
|
|
NM_000784.4(CYP27A1):c.246C>T (p.His82=)
|
|
|
|
NM_000784.4(CYP27A1):c.247C>G (p.Gln83Glu)
|
rs2106479200
|
|
|
NM_000784.4(CYP27A1):c.24dup (p.Leu9fs)
|
rs1163340926
|
|
|
NM_000784.4(CYP27A1):c.252dup (p.Gln85fs)
|
|
|
|
NM_000784.4(CYP27A1):c.253C>T (p.Gln85Ter)
|
rs1333458369
|
|
|
NM_000784.4(CYP27A1):c.255+10G>A
|
|
|
|
NM_000784.4(CYP27A1):c.255+14G>A
|
|
|
|
NM_000784.4(CYP27A1):c.255+14G>T
|
rs767761739
|
|
|
NM_000784.4(CYP27A1):c.255+15C>T
|
|
|
|
NM_000784.4(CYP27A1):c.255+20C>A
|
rs1943402023
|
|
|
NM_000784.4(CYP27A1):c.255+7C>G
|
|
|
|
NM_000784.4(CYP27A1):c.255+7del
|
|
|
|
NM_000784.4(CYP27A1):c.255G>A (p.Gln85=)
|
|
|
|
NM_000784.4(CYP27A1):c.256-10A>G
|
rs2105978797
|
|
|
NM_000784.4(CYP27A1):c.256-16T>G
|
|
|
|
NM_000784.4(CYP27A1):c.256-17T>G
|
|
|
|
NM_000784.4(CYP27A1):c.256-1G>T
|
rs886556800
|
|
|
NM_000784.4(CYP27A1):c.256-20G>A
|
|
|
|
NM_000784.4(CYP27A1):c.256-2A>G
|
rs1559391390
|
|
|
NM_000784.4(CYP27A1):c.256-5C>T
|
rs768029983
|
|
|
NM_000784.4(CYP27A1):c.256-6C>T
|
|
|
|
NM_000784.4(CYP27A1):c.256-9A>C
|
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NM_000784.4(CYP27A1):c.256G>T (p.Val86Leu)
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NM_000784.4(CYP27A1):c.258G>A (p.Val86=)
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rs2105978806
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NM_000784.4(CYP27A1):c.259C>T (p.Leu87Phe)
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rs1170171291
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NM_000784.4(CYP27A1):c.25C>T (p.Leu9=)
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rs2106479038
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NM_000784.4(CYP27A1):c.26T>C (p.Leu9Pro)
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NM_000784.4(CYP27A1):c.279T>C (p.Gly93=)
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rs773872361
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NM_000784.4(CYP27A1):c.287G>A (p.Trp96Ter)
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rs1943689766
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NM_000784.4(CYP27A1):c.290T>G (p.Met97Arg)
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NM_000784.4(CYP27A1):c.29G>A (p.Arg10Lys)
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NM_000784.4(CYP27A1):c.303G>T (p.Gly101=)
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rs2105978833
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NM_000784.4(CYP27A1):c.303del (p.Pro102fs)
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NM_000784.4(CYP27A1):c.309G>A (p.Gln103=)
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rs1306558952
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NM_000784.4(CYP27A1):c.315C>A (p.His105Gln)
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rs753981913
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NM_000784.4(CYP27A1):c.316G>A (p.Val106Met)
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rs374769409
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NM_000784.4(CYP27A1):c.321C>T (p.Asn107=)
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rs755282568
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NM_000784.4(CYP27A1):c.327C>G (p.Ala109=)
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rs2105978849
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NM_000784.4(CYP27A1):c.332C>A (p.Ala111Asp)
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NM_000784.4(CYP27A1):c.332C>G (p.Ala111Gly)
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rs1441761338
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NM_000784.4(CYP27A1):c.335C>G (p.Pro112Arg)
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rs531504325
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NM_000784.4(CYP27A1):c.338T>C (p.Leu113Pro)
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NM_000784.4(CYP27A1):c.339C>T (p.Leu113=)
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NM_000784.4(CYP27A1):c.345G>A (p.Glu115=)
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rs919883150
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NM_000784.4(CYP27A1):c.350T>C (p.Val117Ala)
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NM_000784.4(CYP27A1):c.351G>C (p.Val117=)
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NM_000784.4(CYP27A1):c.351G>T (p.Val117=)
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NM_000784.4(CYP27A1):c.355C>A (p.Arg119=)
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NM_000784.4(CYP27A1):c.356G>A (p.Arg119Gln)
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NM_000784.4(CYP27A1):c.358C>T (p.Gln120Ter)
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rs1943690848
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NM_000784.4(CYP27A1):c.363G>A (p.Glu121=)
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NM_000784.4(CYP27A1):c.369G>A (p.Lys123=)
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rs2105978882
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NM_000784.4(CYP27A1):c.36G>A (p.Ala12=)
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NM_000784.4(CYP27A1):c.36G>C (p.Ala12=)
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NM_000784.4(CYP27A1):c.371A>T (p.Tyr124Phe)
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NM_000784.4(CYP27A1):c.372C>T (p.Tyr124=)
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NM_000784.4(CYP27A1):c.375A>G (p.Pro125=)
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NM_000784.4(CYP27A1):c.383A>G (p.Asn128Ser)
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NM_000784.4(CYP27A1):c.385G>A (p.Asp129Asn)
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NM_000784.4(CYP27A1):c.390G>A (p.Met130Ile)
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NM_000784.4(CYP27A1):c.393G>A (p.Glu131=)
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rs911534514
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NM_000784.4(CYP27A1):c.394C>T (p.Leu132=)
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rs1237307385
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NM_000784.4(CYP27A1):c.396A>G (p.Leu132=)
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NM_000784.4(CYP27A1):c.398G>A (p.Trp133Ter)
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rs1559391480
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NM_000784.4(CYP27A1):c.39G>A (p.Leu13=)
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rs2106479059
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NM_000784.4(CYP27A1):c.401A>C (p.Lys134Thr)
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NM_000784.4(CYP27A1):c.410G>C (p.Arg137Pro)
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NM_000784.4(CYP27A1):c.411G>A (p.Arg137=)
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rs1275203092
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NM_000784.4(CYP27A1):c.412G>C (p.Asp138His)
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NM_000784.4(CYP27A1):c.417G>A (p.Gln139=)
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NM_000784.4(CYP27A1):c.420C>A (p.His140Gln)
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rs139415581
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NM_000784.4(CYP27A1):c.421G>A (p.Asp141Asn)
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NM_000784.4(CYP27A1):c.423C>T (p.Asp141=)
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rs1943692779
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NM_000784.4(CYP27A1):c.426G>A (p.Leu142=)
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NM_000784.4(CYP27A1):c.426G>T (p.Leu142=)
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NM_000784.4(CYP27A1):c.426del (p.Thr143fs)
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rs2105978931
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NM_000784.4(CYP27A1):c.429C>G (p.Thr143=)
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NM_000784.4(CYP27A1):c.42A>T (p.Arg14=)
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NM_000784.4(CYP27A1):c.433G>A (p.Gly145Arg)
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rs587778795
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NM_000784.4(CYP27A1):c.435G>A (p.Gly145=)
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NM_000784.4(CYP27A1):c.437C>T (p.Pro146Leu)
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NM_000784.4(CYP27A1):c.440_446+2del
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rs2105978950
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NM_000784.4(CYP27A1):c.444C>T (p.Thr148=)
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rs2105978956
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NM_000784.4(CYP27A1):c.446+10G>A
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rs200400166
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NM_000784.4(CYP27A1):c.446+18G>A
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NM_000784.4(CYP27A1):c.446+1G>T
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rs587778797
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NM_000784.4(CYP27A1):c.446+8G>A
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rs950113577
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NM_000784.4(CYP27A1):c.446+9G>T
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NM_000784.4(CYP27A1):c.447-12G>T
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NM_000784.4(CYP27A1):c.447-13T>G
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NM_000784.4(CYP27A1):c.447-15T>C
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NM_000784.4(CYP27A1):c.447-1G>A
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rs2105979879
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NM_000784.4(CYP27A1):c.447-3C>A
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NM_000784.4(CYP27A1):c.447-4G>T
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rs2105979874
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NM_000784.4(CYP27A1):c.447-8C>A
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NM_000784.4(CYP27A1):c.447-8C>G
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NM_000784.4(CYP27A1):c.447-9T>A
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NM_000784.4(CYP27A1):c.447-9T>C
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NM_000784.4(CYP27A1):c.450A>G (p.Glu150=)
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rs749515902
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NM_000784.4(CYP27A1):c.453A>G (p.Gly151=)
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rs2105979882
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NM_000784.4(CYP27A1):c.455A>C (p.His152Pro)
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rs768932304
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NM_000784.4(CYP27A1):c.455A>T (p.His152Leu)
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NM_000784.4(CYP27A1):c.456C>T (p.His152=)
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rs1943723875
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NM_000784.4(CYP27A1):c.45G>C (p.Gly15=)
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NM_000784.4(CYP27A1):c.45_46del (p.Ala16fs)
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rs1413976755
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NM_000784.4(CYP27A1):c.461G>A (p.Trp154Ter)
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NM_000784.4(CYP27A1):c.465C>A (p.Tyr155Ter)
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NM_000784.4(CYP27A1):c.465C>T (p.Tyr155=)
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rs553140875
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NM_000784.4(CYP27A1):c.46dup (p.Ala16fs)
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rs1413976755
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NM_000784.4(CYP27A1):c.470T>C (p.Leu157Pro)
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rs1270373689
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NM_000784.4(CYP27A1):c.473G>T (p.Arg158Leu)
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NM_000784.4(CYP27A1):c.478G>A (p.Ala160Thr)
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rs2105979908
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NM_000784.4(CYP27A1):c.481C>G (p.Leu161Val)
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rs759338714
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NM_000784.4(CYP27A1):c.48C>A (p.Ala16=)
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rs2106479063
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NM_000784.4(CYP27A1):c.48C>G (p.Ala16=)
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rs2106479063
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NM_000784.4(CYP27A1):c.48C>T (p.Ala16=)
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NM_000784.4(CYP27A1):c.491G>A (p.Arg164Gln)
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rs148417330
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NM_000784.4(CYP27A1):c.491G>C (p.Arg164Pro)
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rs148417330
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NM_000784.4(CYP27A1):c.492G>T (p.Arg164=)
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rs2105979919
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NM_000784.4(CYP27A1):c.498G>A (p.Leu166=)
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NM_000784.4(CYP27A1):c.506C>A (p.Ala169Glu)
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rs59443548
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NM_000784.4(CYP27A1):c.506C>G (p.Ala169Gly)
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rs59443548
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NM_000784.4(CYP27A1):c.506C>T (p.Ala169Val)
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rs59443548
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NM_000784.4(CYP27A1):c.506_507delinsA (p.Ala169fs)
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rs1559392331
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NM_000784.4(CYP27A1):c.517C>T (p.Leu173Phe)
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NM_000784.4(CYP27A1):c.51C>T (p.Gly17=)
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NM_000784.4(CYP27A1):c.522T>C (p.Tyr174=)
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NM_000784.4(CYP27A1):c.525G>T (p.Thr175=)
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rs200506778
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NM_000784.4(CYP27A1):c.526del (p.Asp176fs)
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rs765512351
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NM_000784.4(CYP27A1):c.52C>T (p.Arg18Cys)
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NM_000784.4(CYP27A1):c.530C>T (p.Ala177Val)
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rs773103625
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NM_000784.4(CYP27A1):c.536del (p.Asn179fs)
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NM_000784.4(CYP27A1):c.538G>A (p.Glu180Lys)
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rs1943725580
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NM_000784.4(CYP27A1):c.540G>A (p.Glu180=)
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rs1238433654
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NM_000784.4(CYP27A1):c.543G>T (p.Val181=)
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rs2105979971
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NM_000784.4(CYP27A1):c.547del (p.Asp183fs)
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NM_000784.4(CYP27A1):c.54T>C (p.Arg18=)
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NM_000784.4(CYP27A1):c.550G>A (p.Asp184Asn)
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NM_000784.4(CYP27A1):c.555del (p.Phe185fs)
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NM_000784.4(CYP27A1):c.559A>G (p.Thr187Ala)
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NM_000784.4(CYP27A1):c.55G>A (p.Gly19Ser)
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NM_000784.4(CYP27A1):c.563G>T (p.Arg188Leu)
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NM_000784.4(CYP27A1):c.564A>T (p.Arg188=)
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rs2105979989
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NM_000784.4(CYP27A1):c.565C>T (p.Leu189=)
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NM_000784.4(CYP27A1):c.56G>C (p.Gly19Ala)
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rs1203579586
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NM_000784.4(CYP27A1):c.574C>T (p.Leu192=)
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NM_000784.4(CYP27A1):c.577C>A (p.Arg193=)
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NM_000784.4(CYP27A1):c.57C>A (p.Gly19=)
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NM_000784.4(CYP27A1):c.580G>A (p.Ala194Thr)
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NM_000784.4(CYP27A1):c.582A>G (p.Ala194=)
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NM_000784.4(CYP27A1):c.586_587del (p.Ser196fs)
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rs758739930
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NM_000784.4(CYP27A1):c.590C>G (p.Ala197Gly)
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NM_000784.4(CYP27A1):c.594G>C (p.Ser198=)
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NM_000784.4(CYP27A1):c.595G>A (p.Gly199Arg)
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rs2105980019
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NM_000784.4(CYP27A1):c.597G>A (p.Gly199=)
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rs2105980020
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NM_000784.4(CYP27A1):c.597G>T (p.Gly199=)
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rs2105980020
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NM_000784.4(CYP27A1):c.5dup (p.Ala3fs)
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rs587778802
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NM_000784.4(CYP27A1):c.606G>A (p.Val202=)
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rs1451997056
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NM_000784.4(CYP27A1):c.606G>T (p.Val202=)
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rs1451997056
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NM_000784.4(CYP27A1):c.624C>A (p.Leu208=)
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NM_000784.4(CYP27A1):c.628T>C (p.Tyr210His)
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NM_000784.4(CYP27A1):c.630C>T (p.Tyr210=)
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rs2105980041
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NM_000784.4(CYP27A1):c.639C>T (p.Ala213=)
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NM_000784.4(CYP27A1):c.639del (p.Leu214fs)
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NM_000784.4(CYP27A1):c.63C>T (p.Cys21=)
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rs781222632
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NM_000784.4(CYP27A1):c.641T>C (p.Leu214Ser)
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rs2105980045
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NM_000784.4(CYP27A1):c.642G>A (p.Leu214=)
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NM_000784.4(CYP27A1):c.643G>T (p.Glu215Ter)
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rs761663976
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NM_000784.4(CYP27A1):c.646+10C>T
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NM_000784.4(CYP27A1):c.646+11T>C
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NM_000784.4(CYP27A1):c.646+13G>T
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NM_000784.4(CYP27A1):c.646+19G>A
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NM_000784.4(CYP27A1):c.646+1G>A
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NM_000784.4(CYP27A1):c.646+8T>C
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NM_000784.4(CYP27A1):c.646+8del
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rs1943728243
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NM_000784.4(CYP27A1):c.646+9G>C
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rs760140162
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NM_000784.4(CYP27A1):c.647-10C>T
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NM_000784.4(CYP27A1):c.647-16T>G
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NM_000784.4(CYP27A1):c.647-17C>A
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NM_000784.4(CYP27A1):c.647-17C>T
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rs774331706
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NM_000784.4(CYP27A1):c.647-18C>A
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NM_000784.4(CYP27A1):c.647-18C>T
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NM_000784.4(CYP27A1):c.647-19G>A
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NM_000784.4(CYP27A1):c.647-1G>A
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NM_000784.4(CYP27A1):c.647-3C>A
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rs1943729710
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NM_000784.4(CYP27A1):c.647-7T>C
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NM_000784.4(CYP27A1):c.647-9A>G
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NM_000784.4(CYP27A1):c.649A>C (p.Ile217Leu)
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rs886042256
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NM_000784.4(CYP27A1):c.654del (p.Tyr219fs)
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NM_000784.4(CYP27A1):c.657C>T (p.Tyr219=)
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rs1414259537
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NM_000784.4(CYP27A1):c.659T>A (p.Ile220Asn)
|
rs1559392536
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NM_000784.4(CYP27A1):c.660C>T (p.Ile220=)
|
rs1400244740
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NM_000784.4(CYP27A1):c.663G>A (p.Leu221=)
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NM_000784.4(CYP27A1):c.666_678del (p.Phe222fs)
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rs755532803
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NM_000784.4(CYP27A1):c.667G>C (p.Glu223Gln)
|
rs760323157
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NM_000784.4(CYP27A1):c.667G>T (p.Glu223Ter)
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NM_000784.4(CYP27A1):c.669G>A (p.Glu223=)
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rs2105980119
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NM_000784.4(CYP27A1):c.66C>G (p.Pro22=)
|
rs1423345815
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NM_000784.4(CYP27A1):c.66C>T (p.Pro22=)
|
rs1423345815
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NM_000784.4(CYP27A1):c.672A>G (p.Lys224=)
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NM_000784.4(CYP27A1):c.674G>T (p.Arg225Leu)
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NM_000784.4(CYP27A1):c.675C>T (p.Arg225=)
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NM_000784.4(CYP27A1):c.678T>C (p.Ile226=)
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NM_000784.4(CYP27A1):c.67dup (p.His23fs)
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rs1559384522
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NM_000784.4(CYP27A1):c.682T>C (p.Cys228Arg)
|
rs1553616268
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NM_000784.4(CYP27A1):c.684C>T (p.Cys228=)
|
rs1180200717
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NM_000784.4(CYP27A1):c.689dup (p.Arg231fs)
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NM_000784.4(CYP27A1):c.692G>A (p.Arg231Gln)
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NM_000784.4(CYP27A1):c.693A>T (p.Arg231=)
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rs1187804477
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NM_000784.4(CYP27A1):c.696C>T (p.Ser232=)
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NM_000784.4(CYP27A1):c.69_82del (p.His23fs)
|
rs1943398587
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NM_000784.4(CYP27A1):c.700C>A (p.Pro234Thr)
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rs2105980154
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NM_000784.4(CYP27A1):c.701C>T (p.Pro234Leu)
|
rs1943733556
|
|
|
NM_000784.4(CYP27A1):c.702C>G (p.Pro234=)
|
|
|
|
NM_000784.4(CYP27A1):c.702del (p.Glu235fs)
|
rs2105980153
|
|
|
NM_000784.4(CYP27A1):c.706G>A (p.Asp236Asn)
|
rs144068826
|
|
|
NM_000784.4(CYP27A1):c.710C>T (p.Thr237Ile)
|
|
|
|
NM_000784.4(CYP27A1):c.717C>G (p.Thr239=)
|
|
|
|
NM_000784.4(CYP27A1):c.717C>T (p.Thr239=)
|
|
|
|
NM_000784.4(CYP27A1):c.721G>A (p.Val241Ile)
|
rs369660141
|
|
|
NM_000784.4(CYP27A1):c.721G>T (p.Val241Phe)
|
|
|
|
NM_000784.4(CYP27A1):c.735G>A (p.Gly245=)
|
rs770631614
|
|
|
NM_000784.4(CYP27A1):c.735G>T (p.Gly245=)
|
rs770631614
|
|
|
NM_000784.4(CYP27A1):c.738A>G (p.Leu246=)
|
|
|
|
NM_000784.4(CYP27A1):c.746A>T (p.Gln249Leu)
|
|
|
|
NM_000784.4(CYP27A1):c.749A>G (p.Asn250Ser)
|
|
|
|
NM_000784.4(CYP27A1):c.750C>T (p.Asn250=)
|
|
|
|
NM_000784.4(CYP27A1):c.751T>C (p.Ser251Pro)
|
|
|
|
NM_000784.4(CYP27A1):c.753_754del (p.Tyr253fs)
|
rs1559392634
|
|
|
NM_000784.4(CYP27A1):c.756C>A (p.Leu252=)
|
rs1559392636
|
|
|
NM_000784.4(CYP27A1):c.758A>G (p.Tyr253Cys)
|
|
|
|
NM_000784.4(CYP27A1):c.759T>C (p.Tyr253=)
|
rs2105980208
|
|
|
NM_000784.4(CYP27A1):c.75C>G (p.Ala25=)
|
|
|
|
NM_000784.4(CYP27A1):c.765C>G (p.Thr255=)
|
rs1431924945
|
|
|
NM_000784.4(CYP27A1):c.765C>T (p.Thr255=)
|
rs1431924945
|
|
|
NM_000784.4(CYP27A1):c.765_766del (p.Phe256fs)
|
rs2105980214
|
|
|
NM_000784.4(CYP27A1):c.767T>G (p.Phe256Cys)
|
rs2105980216
|
|
|
NM_000784.4(CYP27A1):c.769C>T (p.Leu257Phe)
|
rs763461546
|
|
|
NM_000784.4(CYP27A1):c.777G>A (p.Lys259=)
|
|
|
|
NM_000784.4(CYP27A1):c.785G>A (p.Arg262His)
|
rs757682669
|
|
|
NM_000784.4(CYP27A1):c.785G>T (p.Arg262Leu)
|
rs757682669
|
|
|
NM_000784.4(CYP27A1):c.786C>T (p.Arg262=)
|
|
|
|
NM_000784.4(CYP27A1):c.794T>C (p.Leu265Pro)
|
|
|
|
NM_000784.4(CYP27A1):c.795G>A (p.Leu265=)
|
|
|
|
NM_000784.4(CYP27A1):c.798T>C (p.Pro266=)
|
rs1575206137
|
|
|
NM_000784.4(CYP27A1):c.79dup (p.Ala27fs)
|
|
|
|
NM_000784.4(CYP27A1):c.801C>T (p.Phe267=)
|
rs2105980247
|
|
|
NM_000784.4(CYP27A1):c.802T>C (p.Trp268Arg)
|
rs535323883
|
|
|
NM_000784.4(CYP27A1):c.803G>A (p.Trp268Ter)
|
rs1943736070
|
|
|
NM_000784.4(CYP27A1):c.804G>T (p.Trp268Cys)
|
rs1943736101
|
|
|
NM_000784.4(CYP27A1):c.808C>T (p.Arg270Ter)
|
rs72551318
|
|
|
NM_000784.4(CYP27A1):c.813C>G (p.Tyr271Ter)
|
rs532134925
|
|
|
NM_000784.4(CYP27A1):c.813C>T (p.Tyr271=)
|
rs532134925
|
|
|
NM_000784.4(CYP27A1):c.816G>C (p.Leu272=)
|
|
|
|
NM_000784.4(CYP27A1):c.816G>T (p.Leu272=)
|
|
|
|
NM_000784.4(CYP27A1):c.819del (p.Asp273fs)
|
rs587778812
|
|
|
NM_000784.4(CYP27A1):c.821G>C (p.Gly274Ala)
|
rs1167915356
|
|
|
NM_000784.4(CYP27A1):c.825G>A (p.Trp275Ter)
|
|
|
|
NM_000784.4(CYP27A1):c.828T>G (p.Asn276Lys)
|
rs774999308
|
|
|
NM_000784.4(CYP27A1):c.831C>T (p.Ala277=)
|
|
|
|
NM_000784.4(CYP27A1):c.834C>A (p.Ile278=)
|
|
|
|
NM_000784.4(CYP27A1):c.844+10C>T
|
|
|
|
NM_000784.4(CYP27A1):c.844+13A>T
|
|
|
|
NM_000784.4(CYP27A1):c.844+14G>C
|
|
|
|
NM_000784.4(CYP27A1):c.844+1G>A
|
rs397515354
|
|
|
NM_000784.4(CYP27A1):c.844+1G>T
|
|
|
|
NM_000784.4(CYP27A1):c.844+4A>G
|
rs1016174396
|
|
|
NM_000784.4(CYP27A1):c.844+5_844+6insATGTGGTGAGAGTCTGAGAGGACTTTCCTTTGGTGAGAGTCTGAGAG
|
|
|
|
NM_000784.4(CYP27A1):c.844+6G>A
|
rs1943737223
|
|
|
NM_000784.4(CYP27A1):c.844+9T>G
|
|
|
|
NM_000784.4(CYP27A1):c.845-10G>A
|
|
|
|
NM_000784.4(CYP27A1):c.845-12T>C
|
|
|
|
NM_000784.4(CYP27A1):c.845-13G>A
|
rs1398037639
|
|
|
NM_000784.4(CYP27A1):c.845-1G>C
|
|
|
|
NM_000784.4(CYP27A1):c.845-6T>C
|
rs2105980379
|
|
|
NM_000784.4(CYP27A1):c.847A>T (p.Lys283Ter)
|
rs1057519469
|
|
|
NM_000784.4(CYP27A1):c.851A>G (p.Lys284Arg)
|
|
|
|
NM_000784.4(CYP27A1):c.855G>A (p.Leu285=)
|
|
|
|
NM_000784.4(CYP27A1):c.855G>T (p.Leu285=)
|
|
|
|
NM_000784.4(CYP27A1):c.858T>C (p.Ile286=)
|
rs2105980390
|
|
|
NM_000784.4(CYP27A1):c.85G>A (p.Ala29Thr)
|
|
|
|
NM_000784.4(CYP27A1):c.861T>C (p.Asp287=)
|
rs762359911
|
|
|
NM_000784.4(CYP27A1):c.862G>A (p.Glu288Lys)
|
rs2105980394
|
|
|
NM_000784.4(CYP27A1):c.864G>A (p.Glu288=)
|
|
|
|
NM_000784.4(CYP27A1):c.868C>T (p.Leu290Phe)
|
rs2105980402
|
|
|
NM_000784.4(CYP27A1):c.869T>C (p.Leu290Pro)
|
|
|
|
NM_000784.4(CYP27A1):c.870C>G (p.Leu290=)
|
rs202136743
|
|
|
NM_000784.4(CYP27A1):c.876T>C (p.Asp292=)
|
|
|
|
NM_000784.4(CYP27A1):c.877A>T (p.Met293Leu)
|
rs1412455358
|
|
|
NM_000784.4(CYP27A1):c.87C>T (p.Ala29=)
|
rs1310841339
|
|
|
NM_000784.4(CYP27A1):c.884C>A (p.Ala295Asp)
|
|
|
|
NM_000784.4(CYP27A1):c.884C>T (p.Ala295Val)
|
rs1417655712
|
|
|
NM_000784.4(CYP27A1):c.903G>C (p.Gly301=)
|
rs2105980427
|
|
|
NM_000784.4(CYP27A1):c.903G>T (p.Gly301=)
|
|
|
|
NM_000784.4(CYP27A1):c.905C>A (p.Pro302Gln)
|
|
|
|
NM_000784.4(CYP27A1):c.909T>C (p.Asp303=)
|
rs1316018823
|
|
|
NM_000784.4(CYP27A1):c.912C>T (p.Gly304=)
|
|
|
|
NM_000784.4(CYP27A1):c.917A>G (p.Gln306Arg)
|
|
|
|
NM_000784.4(CYP27A1):c.918G>A (p.Gln306=)
|
|
|
|
NM_000784.4(CYP27A1):c.923C>T (p.Ser308Phe)
|
rs2105980439
|
|
|
NM_000784.4(CYP27A1):c.931C>T (p.Leu311=)
|
|
|
|
NM_000784.4(CYP27A1):c.932T>A (p.Leu311Gln)
|
|
|
|
NM_000784.4(CYP27A1):c.933G>A (p.Leu311=)
|
|
|
|
NM_000784.4(CYP27A1):c.935A>C (p.His312Pro)
|
rs1275856308
|
|
|
NM_000784.4(CYP27A1):c.939C>T (p.Phe313=)
|
|
|
|
NM_000784.4(CYP27A1):c.942A>T (p.Leu314Phe)
|
|
|
|
NM_000784.4(CYP27A1):c.944_948del (p.Leu315fs)
|
rs397515356
|
|
|
NM_000784.4(CYP27A1):c.955C>T (p.Gln319Ter)
|
rs1943741125
|
|
|
NM_000784.4(CYP27A1):c.957G>A (p.Gln319=)
|
rs1943741154
|
|
|
NM_000784.4(CYP27A1):c.970G>A (p.Glu324Lys)
|
rs2105980462
|
|
|
NM_000784.4(CYP27A1):c.975C>T (p.Ala325=)
|
rs2105980465
|
|
|
NM_000784.4(CYP27A1):c.976A>G (p.Met326Val)
|
|
|
|
NM_000784.4(CYP27A1):c.978G>A (p.Met326Ile)
|
|
|
|
NM_000784.4(CYP27A1):c.97G>A (p.Ala33Thr)
|
rs1275043449
|
|
|
NM_000784.4(CYP27A1):c.981C>A (p.Gly327=)
|
rs1400093675
|
|
|
NM_000784.4(CYP27A1):c.984C>T (p.Ser328=)
|
|
|
|
NM_000784.4(CYP27A1):c.987G>A (p.Leu329=)
|
rs2105980473
|
|
|
NM_000784.4(CYP27A1):c.987G>C (p.Leu329=)
|
|
|
|
NM_000784.4(CYP27A1):c.988C>T (p.Pro330Ser)
|
rs1399829248
|
|
|
NM_000784.4(CYP27A1):c.995T>G (p.Leu332Arg)
|
|
|
|
NM_000784.4(CYP27A1):c.996G>T (p.Leu332=)
|
|
|
|
NM_000784.4(CYP27A1):c.99C>T (p.Ala33=)
|
rs967210940
|
|
|
NM_000784.4(CYP27A1):c.9G>A (p.Ala3=)
|
|
|
|
NM_000784.4(CYP27A1):c.9G>T (p.Ala3=)
|
rs971599666
|
|
|
NM_000784.4(CYP27A1):c.9_10delinsAA (p.Leu4Met)
|
|
|
|
NM_001044385.3(TMEM237):c.1002C>T (p.His334=)
|
|
|
|
NM_001044385.3(TMEM237):c.1015TCT[1] (p.Ser340del)
|
|
|
|
NM_001044385.3(TMEM237):c.1027G>A (p.Gly343Ser)
|
|
|
|
NM_001044385.3(TMEM237):c.1038-13T>C
|
|
|
|
NM_001044385.3(TMEM237):c.1038-16G>A
|
|
|
|
NM_001044385.3(TMEM237):c.1038-18G>C
|
rs1462537932
|
|
|
NM_001044385.3(TMEM237):c.1051G>A (p.Glu351Lys)
|
|
|
|
NM_001044385.3(TMEM237):c.1066dup (p.Gln356fs)
|
rs751952525
|
|
|
NM_001044385.3(TMEM237):c.1078G>A (p.Val360Met)
|
|
|
|
NM_001044385.3(TMEM237):c.1078G>C (p.Val360Leu)
|
rs1957756642
|
|
|
NM_001044385.3(TMEM237):c.1089C>T (p.Leu363=)
|
|
|
|
NM_001044385.3(TMEM237):c.1090G>T (p.Val364Leu)
|
rs138509553
|
|
|
NM_001044385.3(TMEM237):c.1091T>C (p.Val364Ala)
|
rs1957756375
|
|
|
NM_001044385.3(TMEM237):c.1110A>C (p.Gly370=)
|
|
|
|
NM_001044385.3(TMEM237):c.1114T>C (p.Ser372Pro)
|
|
|
|
NM_001044385.3(TMEM237):c.113A>C (p.Lys38Thr)
|
|
|
|
NM_001044385.3(TMEM237):c.1141G>A (p.Gly381Ser)
|
|
|
|
NM_001044385.3(TMEM237):c.1154G>A (p.Ser385Asn)
|
rs1362249907
|
|
|
NM_001044385.3(TMEM237):c.1159+15A>C
|
|
|
|
NM_001044385.3(TMEM237):c.1159+17del
|
rs766664373
|
|
|
NM_001044385.3(TMEM237):c.1159+17dup
|
|
|
|
NM_001044385.3(TMEM237):c.1159+3A>G
|
rs754717992
|
|
|
NM_001044385.3(TMEM237):c.1160-23_1160-20dup
|
|
|
|
NM_001044385.3(TMEM237):c.1161G>A (p.Glu387=)
|
|
|
|
NM_001044385.3(TMEM237):c.1173del (p.Ser392fs)
|
rs763176756
|
|
|
NM_001044385.3(TMEM237):c.1192C>T (p.Pro398Ser)
|
rs1957737864
|
|
|
NM_001044385.3(TMEM237):c.1203_1208del (p.400KE[1])
|
rs765428296
|
|
|
NM_001044385.3(TMEM237):c.1215del (p.Ala406fs)
|
rs761770686
|
|
|
NM_001044385.3(TMEM237):c.1217C>A (p.Ala406Asp)
|
|
|
|
NM_001044385.3(TMEM237):c.1220C>T (p.Ser407Phe)
|
|
|
|
NM_001044385.3(TMEM237):c.128dup (p.Asn43fs)
|
|
|
|
NM_001044385.3(TMEM237):c.131C>T (p.Thr44Ile)
|
|
|
|
NM_001044385.3(TMEM237):c.133C>T (p.Pro45Ser)
|
rs1376540567
|
|
|
NM_001044385.3(TMEM237):c.136+19T>C
|
rs2105903480
|
|
|
NM_001044385.3(TMEM237):c.136+20T>C
|
|
|
|
NM_001044385.3(TMEM237):c.137-14_137-13del
|
|
|
|
NM_001044385.3(TMEM237):c.137-17A>G
|
|
|
|
NM_001044385.3(TMEM237):c.137-19C>G
|
rs369430368
|
|
|
NM_001044385.3(TMEM237):c.14C>T (p.Ser5Leu)
|
rs562984785
|
|
|
NM_001044385.3(TMEM237):c.155G>T (p.Gly52Val)
|
|
|
|
NM_001044385.3(TMEM237):c.165G>T (p.Gln55His)
|
rs768568104
|
|
|
NM_001044385.3(TMEM237):c.169G>A (p.Ala57Thr)
|
rs999613520
|
|
|
NM_001044385.3(TMEM237):c.174T>G (p.Gly58=)
|
rs2105902384
|
|
|
NM_001044385.3(TMEM237):c.175C>T (p.Arg59Ter)
|
rs902145121
|
|
|
NM_001044385.3(TMEM237):c.192C>T (p.Gly64=)
|
rs2105902371
|
|
|
NM_001044385.3(TMEM237):c.204A>G (p.Ser68=)
|
rs2105902357
|
|
|
NM_001044385.3(TMEM237):c.205A>G (p.Thr69Ala)
|
|
|
|
NM_001044385.3(TMEM237):c.205A>T (p.Thr69Ser)
|
rs376226585
|
|
|
NM_001044385.3(TMEM237):c.214C>G (p.Leu72Val)
|
rs1369476710
|
|
|
NM_001044385.3(TMEM237):c.226C>A (p.Pro76Thr)
|
rs367728637
|
|
|
NM_001044385.3(TMEM237):c.23G>A (p.Arg8Gln)
|
rs778373105
|
|
|
NM_001044385.3(TMEM237):c.24G>A (p.Arg8=)
|
rs377090903
|
|
|
NM_001044385.3(TMEM237):c.267A>G (p.Leu89=)
|
|
|
|
NM_001044385.3(TMEM237):c.26T>A (p.Leu9Gln)
|
rs2105906100
|
|
|
NM_001044385.3(TMEM237):c.274+14C>G
|
|
|
|
NM_001044385.3(TMEM237):c.274+18G>C
|
|
|
|
NM_001044385.3(TMEM237):c.274+9A>G
|
|
|
|
NM_001044385.3(TMEM237):c.284C>A (p.Thr95Asn)
|
|
|
|
NM_001044385.3(TMEM237):c.292A>G (p.Thr98Ala)
|
|
|
|
NM_001044385.3(TMEM237):c.293C>T (p.Thr98Ile)
|
rs1324625933
|
|
|
NM_001044385.3(TMEM237):c.300G>T (p.Lys100Asn)
|
|
|
|
NM_001044385.3(TMEM237):c.301A>G (p.Lys101Glu)
|
|
|
|
NM_001044385.3(TMEM237):c.310A>G (p.Ser104Gly)
|
|
|
|
NM_001044385.3(TMEM237):c.311G>A (p.Ser104Asn)
|
rs1687222402
|
|
|
NM_001044385.3(TMEM237):c.314C>G (p.Ser105Ter)
|
rs2105900861
|
|
|
NM_001044385.3(TMEM237):c.319T>G (p.Leu107Val)
|
|
|
|
NM_001044385.3(TMEM237):c.31G>A (p.Glu11Lys)
|
rs1319201699
|
|
|
NM_001044385.3(TMEM237):c.325C>T (p.Arg109Ter)
|
rs565778005
|
|
|
NM_001044385.3(TMEM237):c.326G>A (p.Arg109Gln)
|
|
|
|
NM_001044385.3(TMEM237):c.330T>G (p.Asn110Lys)
|
rs1553660992
|
|
|
NM_001044385.3(TMEM237):c.346G>A (p.Ala116Thr)
|
|
|
|
NM_001044385.3(TMEM237):c.34G>A (p.Gly12Ser)
|
|
|
|
NM_001044385.3(TMEM237):c.355G>A (p.Ala119Thr)
|
rs2105900828
|
|
|
NM_001044385.3(TMEM237):c.378A>G (p.Lys126=)
|
|
|
|
NM_001044385.3(TMEM237):c.395+16T>C
|
|
|
|
NM_001044385.3(TMEM237):c.396-15A>G
|
|
|
|
NM_001044385.3(TMEM237):c.396-2A>G
|
|
|
|
NM_001044385.3(TMEM237):c.396-4A>G
|
|
|
|
NM_001044385.3(TMEM237):c.402C>T (p.Thr134=)
|
rs1253365223
|
|
|
NM_001044385.3(TMEM237):c.413_420del (p.Glu138fs)
|
|
|
|
NM_001044385.3(TMEM237):c.417A>G (p.Leu139=)
|
rs2105900286
|
|
|
NM_001044385.3(TMEM237):c.42+16C>G
|
rs2105906044
|
|
|
NM_001044385.3(TMEM237):c.42+18C>T
|
|
|
|
NM_001044385.3(TMEM237):c.42+6C>T
|
|
|
|
NM_001044385.3(TMEM237):c.42+7G>T
|
|
|
|
NM_001044385.3(TMEM237):c.424G>A (p.Ala142Thr)
|
rs2105900282
|
|
|
NM_001044385.3(TMEM237):c.435A>G (p.Leu145=)
|
|
|
|
NM_001044385.3(TMEM237):c.43C>T (p.Arg15Cys)
|
|
|
|
NM_001044385.3(TMEM237):c.44G>A (p.Arg15His)
|
|
|
|
NM_001044385.3(TMEM237):c.470_473dup (p.Thr159fs)
|
rs1957813141
|
|
|
NM_001044385.3(TMEM237):c.478G>A (p.Val160Met)
|
rs2105900253
|
|
|
NM_001044385.3(TMEM237):c.505C>T (p.Pro169Ser)
|
rs772074875
|
|
|
NM_001044385.3(TMEM237):c.510T>G (p.Thr170=)
|
|
|
|
NM_001044385.3(TMEM237):c.513C>T (p.Gly171=)
|
rs2105900225
|
|
|
NM_001044385.3(TMEM237):c.51A>G (p.Pro17=)
|
rs1433478535
|
|
|
NM_001044385.3(TMEM237):c.553+2dup
|
rs1957812399
|
|
|
NM_001044385.3(TMEM237):c.553+3dup
|
rs1957812369
|
|
|
NM_001044385.3(TMEM237):c.554-3dup
|
rs778807445
|
|
|
NM_001044385.3(TMEM237):c.554-5C>T
|
|
|
|
NM_001044385.3(TMEM237):c.557G>T (p.Arg186Ile)
|
|
|
|
NM_001044385.3(TMEM237):c.586A>T (p.Ile196Leu)
|
rs1202199961
|
|
|
NM_001044385.3(TMEM237):c.59T>G (p.Leu20Arg)
|
|
|
|
NM_001044385.3(TMEM237):c.605_606del (p.Ile202fs)
|
rs756970007
|
|
|
NM_001044385.3(TMEM237):c.606_609dup (p.Val204fs)
|
rs2105899220
|
|
|
NM_001044385.3(TMEM237):c.618G>A (p.Met206Ile)
|
rs767769973
|
|
|
NM_001044385.3(TMEM237):c.655C>T (p.Leu219Phe)
|
rs2105899190
|
|
|
NM_001044385.3(TMEM237):c.65C>T (p.Pro22Leu)
|
rs769861092
|
|
|
NM_001044385.3(TMEM237):c.672T>G (p.Ala224=)
|
rs2105899171
|
|
|
NM_001044385.3(TMEM237):c.676A>G (p.Arg226Gly)
|
rs2105899169
|
|
|
NM_001044385.3(TMEM237):c.677+18A>G
|
|
|
|
NM_001044385.3(TMEM237):c.678-13C>T
|
rs1957789089
|
|
|
NM_001044385.3(TMEM237):c.678-15C>A
|
|
|
|
NM_001044385.3(TMEM237):c.678-20_678-17del
|
rs754336127
|
|
|
NM_001044385.3(TMEM237):c.678-6A>G
|
|
|
|
NM_001044385.3(TMEM237):c.683T>C (p.Ile228Thr)
|
|
|
|
NM_001044385.3(TMEM237):c.685G>C (p.Gly229Arg)
|
rs1163877651
|
|
|
NM_001044385.3(TMEM237):c.694dup (p.Ser232fs)
|
|
|
|
NM_001044385.3(TMEM237):c.69G>T (p.Val23=)
|
rs2105904439
|
|
|
NM_001044385.3(TMEM237):c.709G>T (p.Ala237Ser)
|
rs763431945
|
|
|
NM_001044385.3(TMEM237):c.725G>A (p.Trp242Ter)
|
|
|
|
NM_001044385.3(TMEM237):c.74+12_74+14del
|
|
|
|
NM_001044385.3(TMEM237):c.747T>A (p.Val249=)
|
rs1957787811
|
|
|
NM_001044385.3(TMEM237):c.75-19G>A
|
|
|
|
NM_001044385.3(TMEM237):c.75-5G>A
|
|
|
|
NM_001044385.3(TMEM237):c.767C>G (p.Ser256Cys)
|
rs2105898977
|
|
|
NM_001044385.3(TMEM237):c.775T>C (p.Ser259Pro)
|
rs992818026
|
|
|
NM_001044385.3(TMEM237):c.79+20A>T
|
rs745908076
|
|
|
NM_001044385.3(TMEM237):c.79+5G>C
|
|
|
|
NM_001044385.3(TMEM237):c.795C>T (p.Tyr265=)
|
|
|
|
NM_001044385.3(TMEM237):c.80-18dup
|
rs747217784
|
|
|
NM_001044385.3(TMEM237):c.80-20C>T
|
rs753443048
|
|
|
NM_001044385.3(TMEM237):c.804A>G (p.Leu268=)
|
|
|
|
NM_001044385.3(TMEM237):c.813A>G (p.Pro271=)
|
rs2105898943
|
|
|
NM_001044385.3(TMEM237):c.832T>C (p.Leu278=)
|
|
|
|
NM_001044385.3(TMEM237):c.850A>G (p.Thr284Ala)
|
|
|
|
NM_001044385.3(TMEM237):c.851C>T (p.Thr284Ile)
|
rs1015591586
|
|
|
NM_001044385.3(TMEM237):c.854T>C (p.Ile285Thr)
|
rs1343901400
|
|
|
NM_001044385.3(TMEM237):c.858A>G (p.Ser286=)
|
rs2105898925
|
|
|
NM_001044385.3(TMEM237):c.860C>A (p.Ala287Asp)
|
|
|
|
NM_001044385.3(TMEM237):c.869+11T>C
|
|
|
|
NM_001044385.3(TMEM237):c.869+15T>C
|
|
|
|
NM_001044385.3(TMEM237):c.869+16C>T
|
rs980158363
|
|
|
NM_001044385.3(TMEM237):c.869+1del
|
rs1311551510
|
|
|
NM_001044385.3(TMEM237):c.869+8C>G
|
|
|
|
NM_001044385.3(TMEM237):c.870-13_870-12del
|
rs555284377
|
|
|
NM_001044385.3(TMEM237):c.870-4C>G
|
|
|
|
NM_001044385.3(TMEM237):c.870-8T>G
|
rs2105898458
|
|
|
NM_001044385.3(TMEM237):c.879T>C (p.Phe293=)
|
rs2105898446
|
|
|
NM_001044385.3(TMEM237):c.890C>G (p.Ser297Ter)
|
rs768528861
|
|
|
NM_001044385.3(TMEM237):c.91C>T (p.Leu31Phe)
|
|
|
|
NM_001044385.3(TMEM237):c.920A>G (p.Asp307Gly)
|
rs2105898418
|
|
|
NM_001044385.3(TMEM237):c.926C>G (p.Thr309Arg)
|
rs1380123430
|
|
|
NM_001044385.3(TMEM237):c.934G>C (p.Ala312Pro)
|
rs2105898403
|
|
|
NM_001044385.3(TMEM237):c.943+15dup
|
|
|
|
NM_001044385.3(TMEM237):c.944T>G (p.Leu315Trp)
|
rs1043186259
|
|
|
NM_001044385.3(TMEM237):c.964C>G (p.Leu322Val)
|
rs2105898068
|
|
|
NM_001044385.3(TMEM237):c.965T>G (p.Leu322Arg)
|
rs1957768968
|
|
|
NM_001044385.3(TMEM237):c.966A>G (p.Leu322=)
|
|
|
|
NM_001044385.3(TMEM237):c.970C>G (p.Leu324Val)
|
|
|
|
NM_001044385.3(TMEM237):c.986C>G (p.Thr329Arg)
|
rs1057148787
|
|
|
NM_001077418.2(TMEM231):c.-53A>G
|
rs1176007249
|
|
|
NM_001077418.2(TMEM231):c.-55C>T
|
rs2151711350
|
|
|
NM_001077418.2(TMEM231):c.-59G>A
|
|
|
|
NM_001077418.2(TMEM231):c.-61T>G
|
|
|
|
NM_001077418.3(TMEM231):c.-16C>A
|
|
|
|
NM_001077418.3(TMEM231):c.-17G>T
|
rs768513169
|
|
|
NM_001077418.3(TMEM231):c.-22G>C
|
|
|
|
NM_001077418.3(TMEM231):c.-25C>T
|
|
|
|
NM_001077418.3(TMEM231):c.-30C>A
|
rs2080810566
|
|
|
NM_001077418.3(TMEM231):c.-37G>A
|
|
|
|
NM_001077418.3(TMEM231):c.-38T>C
|
rs758946916
|
|
|
NM_001077418.3(TMEM231):c.-41A>C
|
rs765256905
|
|
|
NM_001077418.3(TMEM231):c.-8C>T
|
rs780752063
|
|
|
NM_001077418.3(TMEM231):c.105C>T (p.Tyr35=)
|
|
|
|
NM_001077418.3(TMEM231):c.12T>C (p.Tyr4=)
|
|
|
|
NM_001077418.3(TMEM231):c.137A>C (p.His46Pro)
|
|
|
|
NM_001077418.3(TMEM231):c.139+12C>T
|
rs937269706
|
|
|
NM_001077418.3(TMEM231):c.139+14G>A
|
|
|
|
NM_001077418.3(TMEM231):c.139+1del
|
rs2151711054
|
|
|
NM_001077418.3(TMEM231):c.139+28G>A
|
rs370005084
|
|
|
NM_001077418.3(TMEM231):c.139+39G>C
|
rs1448302846
|
|
|
NM_001077418.3(TMEM231):c.139+39_139+40del
|
|
|
|
NM_001077418.3(TMEM231):c.139+44G>T
|
|
|
|
NM_001077418.3(TMEM231):c.139+48G>T
|
rs1234390023
|
|
|
NM_001077418.3(TMEM231):c.139+9G>A
|
|
|
|
NM_001077418.3(TMEM231):c.140-10T>C
|
rs2151710900
|
|
|
NM_001077418.3(TMEM231):c.140-29C>T
|
|
|
|
NM_001077418.3(TMEM231):c.140-2A>G
|
rs1216670609
|
|
|
NM_001077418.3(TMEM231):c.140-30A>C
|
rs2080806593
|
|
|
NM_001077418.3(TMEM231):c.140-39G>A
|
|
|
|
NM_001077418.3(TMEM231):c.140-3C>G
|
rs776673877
|
|
|
NM_001077418.3(TMEM231):c.140-47C>G
|
rs369232571
|
|
|
NM_001077418.3(TMEM231):c.140-5C>T
|
|
|
|
NM_001077418.3(TMEM231):c.140-8dup
|
|
|
|
NM_001077418.3(TMEM231):c.140-9_140-8del
|
|
|
|
NM_001077418.3(TMEM231):c.144T>G (p.Phe48Leu)
|
rs2151710882
|
|
|
NM_001077418.3(TMEM231):c.155G>A (p.Arg52Gln)
|
|
|
|
NM_001077418.3(TMEM231):c.15G>A (p.Glu5=)
|
|
|
|
NM_001077418.3(TMEM231):c.15G>C (p.Glu5Asp)
|
|
|
|
NM_001077418.3(TMEM231):c.164A>G (p.Tyr55Cys)
|
|
|
|
NM_001077418.3(TMEM231):c.171G>A (p.Glu57=)
|
|
|
|
NM_001077418.3(TMEM231):c.175C>G (p.Pro59Ala)
|
|
|
|
NM_001077418.3(TMEM231):c.177G>A (p.Pro59=)
|
|
|
|
NM_001077418.3(TMEM231):c.184C>T (p.Arg62Cys)
|
rs772102451
|
|
|
NM_001077418.3(TMEM231):c.198G>A (p.Gln66=)
|
|
|
|
NM_001077418.3(TMEM231):c.199G>C (p.Val67Leu)
|
|
|
|
NM_001077418.3(TMEM231):c.1A>G (p.Met1Val)
|
|
|
|
NM_001077418.3(TMEM231):c.202C>T (p.Leu68=)
|
rs781250253
|
|
|
NM_001077418.3(TMEM231):c.204G>C (p.Leu68=)
|
|
|
|
NM_001077418.3(TMEM231):c.205C>T (p.Leu69Phe)
|
|
|
|
NM_001077418.3(TMEM231):c.212C>A (p.Ala71Asp)
|
rs1350319069
|
|
|
NM_001077418.3(TMEM231):c.214C>G (p.Leu72Val)
|
rs2151710764
|
|
|
NM_001077418.3(TMEM231):c.217C>G (p.Leu73Val)
|
rs2080804915
|
|
|
NM_001077418.3(TMEM231):c.219C>T (p.Leu73=)
|
|
|
|
NM_001077418.3(TMEM231):c.225C>T (p.Pro75=)
|
|
|
|
NM_001077418.3(TMEM231):c.232G>A (p.Asp78Asn)
|
rs753709447
|
|
|
NM_001077418.3(TMEM231):c.234C>T (p.Asp78=)
|
|
|
|
NM_001077418.3(TMEM231):c.243C>A (p.Leu81=)
|
|
|
|
NM_001077418.3(TMEM231):c.246C>A (p.Ala82=)
|
|
|
|
NM_001077418.3(TMEM231):c.248G>A (p.Trp83Ter)
|
rs2080804101
|
|
|
NM_001077418.3(TMEM231):c.255G>T (p.Thr85=)
|
rs2151710642
|
|
|
NM_001077418.3(TMEM231):c.258C>G (p.Phe86Leu)
|
|
|
|
NM_001077418.3(TMEM231):c.271C>T (p.Arg91Trp)
|
|
|
|
NM_001077418.3(TMEM231):c.272G>C (p.Arg91Pro)
|
|
|
|
NM_001077418.3(TMEM231):c.279A>C (p.Gln93His)
|
|
|
|
NM_001077418.3(TMEM231):c.28C>A (p.Pro10Thr)
|
|
|
|
NM_001077418.3(TMEM231):c.28C>G (p.Pro10Ala)
|
|
|
|
NM_001077418.3(TMEM231):c.29C>G (p.Pro10Arg)
|
|
|
|
NM_001077418.3(TMEM231):c.301C>A (p.Leu101Ile)
|
rs2151710524
|
|
|
NM_001077418.3(TMEM231):c.303C>G (p.Leu101=)
|
|
|
|
NM_001077418.3(TMEM231):c.309+12C>T
|
|
|
|
NM_001077418.3(TMEM231):c.309G>A (p.Ser103=)
|
rs2151710504
|
|
|
NM_001077418.3(TMEM231):c.309G>C (p.Ser103=)
|
rs2151710504
|
|
|
NM_001077418.3(TMEM231):c.310-15G>C
|
rs2151703201
|
|
|
NM_001077418.3(TMEM231):c.310-18C>T
|
|
|
|
NM_001077418.3(TMEM231):c.310-4C>G
|
rs2080685365
|
|
|
NM_001077418.3(TMEM231):c.330C>T (p.Asn110=)
|
|
|
|
NM_001077418.3(TMEM231):c.335A>G (p.Asp112Gly)
|
rs1415195367
|
|
|
NM_001077418.3(TMEM231):c.33C>A (p.Val11=)
|
|
|
|
NM_001077418.3(TMEM231):c.345G>A (p.Thr115=)
|
|
|
|
NM_001077418.3(TMEM231):c.354dup (p.His119fs)
|
rs2151703115
|
|
|
NM_001077418.3(TMEM231):c.364C>T (p.Leu122=)
|
|
|
|
NM_001077418.3(TMEM231):c.37C>T (p.Arg13Cys)
|
rs775329522
|
|
|
NM_001077418.3(TMEM231):c.380A>G (p.Gln127Arg)
|
rs1202833405
|
|
|
NM_001077418.3(TMEM231):c.390G>A (p.Glu130=)
|
|
|
|
NM_001077418.3(TMEM231):c.396T>C (p.Val132=)
|
rs1187444555
|
|
|
NM_001077418.3(TMEM231):c.399C>G (p.Leu133=)
|
|
|
|
NM_001077418.3(TMEM231):c.3_4insAGCTCTATGAGCTCATG (p.Ala2fs)
|
|
|
|
NM_001077418.3(TMEM231):c.415C>T (p.Leu139=)
|
|
|
|
NM_001077418.3(TMEM231):c.417G>C (p.Leu139=)
|
rs2080683492
|
|
|
NM_001077418.3(TMEM231):c.436C>T (p.His146Tyr)
|
|
|
|
NM_001077418.3(TMEM231):c.438+13G>A
|
rs780849828
|
|
|
NM_001077418.3(TMEM231):c.438+13G>T
|
rs780849828
|
|
|
NM_001077418.3(TMEM231):c.438+1G>C
|
rs1415483600
|
|
|
NM_001077418.3(TMEM231):c.438+3G>A
|
rs1183368030
|
|
|
NM_001077418.3(TMEM231):c.438C>T (p.His146=)
|
|
|
|
NM_001077418.3(TMEM231):c.439-11A>G
|
|
|
|
NM_001077418.3(TMEM231):c.439-20G>T
|
|
|
|
NM_001077418.3(TMEM231):c.439-33_538del
|
|
|
|
NM_001077418.3(TMEM231):c.445G>A (p.Ala149Thr)
|
|
|
|
NM_001077418.3(TMEM231):c.445G>C (p.Ala149Pro)
|
|
|
|
NM_001077418.3(TMEM231):c.453C>T (p.Leu151=)
|
|
|
|
NM_001077418.3(TMEM231):c.479A>G (p.Gln160Arg)
|
rs2080678228
|
|
|
NM_001077418.3(TMEM231):c.47G>A (p.Arg16His)
|
|
|
|
NM_001077418.3(TMEM231):c.47_48delinsAA (p.Arg16Gln)
|
|
|
|
NM_001077418.3(TMEM231):c.490C>G (p.Pro164Ala)
|
|
|
|
NM_001077418.3(TMEM231):c.492T>C (p.Pro164=)
|
|
|
|
NM_001077418.3(TMEM231):c.494T>A (p.Val165Asp)
|
rs1597041448
|
|
|
NM_001077418.3(TMEM231):c.496C>G (p.Pro166Ala)
|
|
|
|
NM_001077418.3(TMEM231):c.497C>T (p.Pro166Leu)
|
rs549400559
|
|
|
NM_001077418.3(TMEM231):c.4G>A (p.Ala2Thr)
|
rs903354438
|
|
|
NM_001077418.3(TMEM231):c.507G>T (p.Gln169His)
|
|
|
|
NM_001077418.3(TMEM231):c.508T>C (p.Leu170=)
|
|
|
|
NM_001077418.3(TMEM231):c.510A>G (p.Leu170=)
|
rs1335128278
|
|
|
NM_001077418.3(TMEM231):c.518A>G (p.Asn173Ser)
|
|
|
|
NM_001077418.3(TMEM231):c.526C>T (p.Leu176=)
|
|
|
|
NM_001077418.3(TMEM231):c.535C>T (p.Gln179Ter)
|
rs2151702587
|
|
|
NM_001077418.3(TMEM231):c.544C>T (p.Gln182Ter)
|
|
|
|
NM_001077418.3(TMEM231):c.557G>T (p.Cys186Phe)
|
rs1280264089
|
|
|
NM_001077418.3(TMEM231):c.569A>G (p.Asp190Gly)
|
|
|
|
NM_001077418.3(TMEM231):c.570T>A (p.Asp190Glu)
|
rs2151702535
|
|
|
NM_001077418.3(TMEM231):c.582+16_582+17delinsGA
|
|
|
|
NM_001077418.3(TMEM231):c.582+17T>G
|
|
|
|
NM_001077418.3(TMEM231):c.582+8C>T
|
|
|
|
NM_001077418.3(TMEM231):c.583-1_583delinsAG
|
rs2151700036
|
|
|
NM_001077418.3(TMEM231):c.583-1_593delinsAGTATCTGTGAC
|
|
|
|
NM_001077418.3(TMEM231):c.583-3C>G
|
|
|
|
NM_001077418.3(TMEM231):c.598G>A (p.Gly200Arg)
|
|
|
|
NM_001077418.3(TMEM231):c.600G>A (p.Gly200=)
|
|
|
|
NM_001077418.3(TMEM231):c.619G>C (p.Asp207His)
|
|
|
|
NM_001077418.3(TMEM231):c.636T>G (p.His212Gln)
|
|
|
|
NM_001077418.3(TMEM231):c.653A>G (p.Gln218Arg)
|
rs2080639506
|
|
|
NM_001077418.3(TMEM231):c.662A>G (p.Asn221Ser)
|
|
|
|
NM_001077418.3(TMEM231):c.664G>C (p.Val222Leu)
|
rs397514753
|
|
|
NM_001077418.3(TMEM231):c.665-11T>C
|
rs886039807
|
|
|
NM_001077418.3(TMEM231):c.665-13G>C
|
|
|
|
NM_001077418.3(TMEM231):c.665-19G>T
|
rs200581224
|
|
|
NM_001077418.3(TMEM231):c.665-19_665-13del
|
|
|
|
NM_001077418.3(TMEM231):c.668C>T (p.Thr223Ile)
|
|
|
|
NM_001077418.3(TMEM231):c.675C>A (p.Val225=)
|
|
|
|
NM_001077418.3(TMEM231):c.684T>C (p.Asp228=)
|
|
|
|
NM_001077418.3(TMEM231):c.68C>T (p.Ala23Val)
|
rs1567441268
|
|
|
NM_001077418.3(TMEM231):c.691C>A (p.Pro231Thr)
|
|
|
|
NM_001077418.3(TMEM231):c.696C>G (p.Ile232Met)
|
|
|
|
NM_001077418.3(TMEM231):c.702G>A (p.Leu234=)
|
|
|
|
NM_001077418.3(TMEM231):c.704T>C (p.Val235Ala)
|
|
|
|
NM_001077418.3(TMEM231):c.70G>A (p.Ala24Thr)
|
rs1344067825
|
|
|
NM_001077418.3(TMEM231):c.711G>A (p.Arg237=)
|
|
|
|
NM_001077418.3(TMEM231):c.715G>A (p.Ala239Thr)
|
rs139236786
|
|
|
NM_001077418.3(TMEM231):c.715G>C (p.Ala239Pro)
|
|
|
|
NM_001077418.3(TMEM231):c.716C>A (p.Ala239Glu)
|
|
|
|
NM_001077418.3(TMEM231):c.71C>A (p.Ala24Glu)
|
rs1277858041
|
|
|
NM_001077418.3(TMEM231):c.726A>G (p.Pro242=)
|
|
|
|
NM_001077418.3(TMEM231):c.736A>G (p.Asn246Asp)
|
|
|
|
NM_001077418.3(TMEM231):c.73C>G (p.Leu25Val)
|
rs951457866
|
|
|
NM_001077418.3(TMEM231):c.744C>T (p.Ile248=)
|
|
|
|
NM_001077418.3(TMEM231):c.749G>C (p.Arg250Pro)
|
|
|
|
NM_001077418.3(TMEM231):c.754C>G (p.Pro252Ala)
|
rs1295551040
|
|
|
NM_001077418.3(TMEM231):c.770+20G>A
|
|
|
|
NM_001077418.3(TMEM231):c.770+3A>G
|
rs2080625882
|
|
|
NM_001077418.3(TMEM231):c.770+6C>G
|
|
|
|
NM_001077418.3(TMEM231):c.771-17T>G
|
|
|
|
NM_001077418.3(TMEM231):c.771-4A>G
|
|
|
|
NM_001077418.3(TMEM231):c.774T>G (p.Tyr258Ter)
|
|
|
|
NM_001077418.3(TMEM231):c.777G>C (p.Gln259His)
|
|
|
|
NM_001077418.3(TMEM231):c.777G>T (p.Gln259His)
|
rs758048238
|
|
|
NM_001077418.3(TMEM231):c.786C>G (p.Phe262Leu)
|
rs2151697774
|
|
|
NM_001077418.3(TMEM231):c.790G>A (p.Glu264Lys)
|
rs797044954
|
|
|
NM_001077418.3(TMEM231):c.792G>A (p.Glu264=)
|
rs754352443
|
|
|
NM_001077418.3(TMEM231):c.793A>G (p.Met265Val)
|
|
|
|
NM_001077418.3(TMEM231):c.818A>T (p.Tyr273Phe)
|
|
|
|
NM_001077418.3(TMEM231):c.819T>C (p.Tyr273=)
|
|
|
|
NM_001077418.3(TMEM231):c.823A>G (p.Ser275Gly)
|
|
|
|
NM_001077418.3(TMEM231):c.841C>T (p.Leu281Phe)
|
|
|
|
NM_001077418.3(TMEM231):c.843C>G (p.Leu281=)
|
rs2080604225
|
|
|
NM_001077418.3(TMEM231):c.852T>C (p.Phe284=)
|
|
|
|
NM_001077418.3(TMEM231):c.861C>G (p.Ile287Met)
|
|
|
|
NM_001077418.3(TMEM231):c.865A>G (p.Ile289Val)
|
|
|
|
NM_001077418.3(TMEM231):c.871G>C (p.Val291Leu)
|
|
|
|
NM_001077418.3(TMEM231):c.888G>A (p.Val296=)
|
|
|
|
NM_001077418.3(TMEM231):c.899T>C (p.Ile300Thr)
|
rs2151697600
|
|
|
NM_001077418.3(TMEM231):c.904G>A (p.Val302Met)
|
|
|
|
NM_001077418.3(TMEM231):c.922G>T (p.Gly308Ter)
|
|
|
|
NM_001077418.3(TMEM231):c.926A>T (p.Asp309Val)
|
|
|
|
NM_001077418.3(TMEM231):c.927C>T (p.Asp309=)
|
|
|
|
NM_001077418.3(TMEM231):c.927_928inv (p.Asp309_Leu310delinsGluVal)
|
|
|
|
NM_001077418.3(TMEM231):c.930G>A (p.Leu310=)
|
rs1362332031
|
|
|
NM_001077418.3(TMEM231):c.939G>A (p.Glu313=)
|
|
|
|
NM_001077418.3(TMEM231):c.943T>C (p.Leu315=)
|
|
|
|
NM_001077418.3(TMEM231):c.94G>A (p.Ala32Thr)
|
|
|
|
NM_001077418.3(TMEM231):c.97C>G (p.Leu33Val)
|
|
|
|
NM_001244189.2(KIAA0586):c.9+12G>C
|
rs2140365548
|
|
|
NM_001244189.2(KIAA0586):c.9+16C>T
|
|
|
|
NM_001244189.2(KIAA0586):c.9+4A>C
|
rs1029046238
|
|
|
NM_001244189.2(KIAA0586):c.9+5G>C
|
|
|
|
NM_001329943.3(KIAA0586):c.*20A>G
|
|
|
|
NM_001329943.3(KIAA0586):c.*3G>A
|
rs748083468
|
|
|
NM_001329943.3(KIAA0586):c.-1T>C
|
|
|
|
NM_001329943.3(KIAA0586):c.-20C>T
|
|
|
|
NM_001329943.3(KIAA0586):c.-28G>A
|
|
|
|
NM_001329943.3(KIAA0586):c.-29A>C
|
rs752709426
|
|
|
NM_001329943.3(KIAA0586):c.-2A>G
|
|
|
|
NM_001329943.3(KIAA0586):c.-31T>G
|
|
|
|
NM_001329943.3(KIAA0586):c.-33C>G
|
rs1246692312
|
|
|
NM_001329943.3(KIAA0586):c.-36G>A
|
rs781284563
|
|
|
NM_001329943.3(KIAA0586):c.-37C>G
|
|
|
|
NM_001329943.3(KIAA0586):c.-47A>G
|
|
|
|
NM_001329943.3(KIAA0586):c.-4C>G
|
|
|
|
NM_001329943.3(KIAA0586):c.100G>A (p.Val34Ile)
|
rs186659284
|
|
|
NM_001329943.3(KIAA0586):c.100G>T (p.Val34Phe)
|
rs186659284
|
|
|
NM_001329943.3(KIAA0586):c.1026A>G (p.Ala342=)
|
|
|
|
NM_001329943.3(KIAA0586):c.1030C>T (p.Arg344Cys)
|
|
|
|
NM_001329943.3(KIAA0586):c.1075_1076del (p.Lys359fs)
|
rs2140706563
|
|
|
NM_001329943.3(KIAA0586):c.1085del (p.Asn362fs)
|
|
|
|
NM_001329943.3(KIAA0586):c.1088T>C (p.Leu363Pro)
|
|
|
|
NM_001329943.3(KIAA0586):c.1093del (p.Glu365fs)
|
rs1232900431
|
|
|
NM_001329943.3(KIAA0586):c.1096G>A (p.Glu366Lys)
|
|
|
|
NM_001329943.3(KIAA0586):c.1099A>C (p.Lys367Gln)
|
|
|
|
NM_001329943.3(KIAA0586):c.1125C>T (p.His375=)
|
|
|
|
NM_001329943.3(KIAA0586):c.1129+16A>C
|
rs1263079347
|
|
|
NM_001329943.3(KIAA0586):c.1129+1G>A
|
rs2140707466
|
|
|
NM_001329943.3(KIAA0586):c.1129+20G>C
|
|
|
|
NM_001329943.3(KIAA0586):c.1129+6A>C
|
|
|
|
NM_001329943.3(KIAA0586):c.1130-12C>T
|
|
|
|
NM_001329943.3(KIAA0586):c.1130-16A>G
|
|
|
|
NM_001329943.3(KIAA0586):c.1130-18A>G
|
|
|
|
NM_001329943.3(KIAA0586):c.1130-20C>G
|
|
|
|
NM_001329943.3(KIAA0586):c.1130-2A>G
|
|
|
|
NM_001329943.3(KIAA0586):c.1130-7A>G
|
rs1656520928
|
|
|
NM_001329943.3(KIAA0586):c.1130G>A (p.Gly377Glu)
|
|
|
|
NM_001329943.3(KIAA0586):c.1133A>G (p.Asn378Ser)
|
|
|
|
NM_001329943.3(KIAA0586):c.1133A>T (p.Asn378Ile)
|
|
|
|
NM_001329943.3(KIAA0586):c.1149A>G (p.Glu383=)
|
|
|
|
NM_001329943.3(KIAA0586):c.1152A>C (p.Gln384His)
|
rs963677243
|
|
|
NM_001329943.3(KIAA0586):c.1163A>G (p.Asn388Ser)
|
|
|
|
NM_001329943.3(KIAA0586):c.1172C>G (p.Ser391Cys)
|
rs2039563292
|
|
|
NM_001329943.3(KIAA0586):c.117G>C (p.Glu39Asp)
|
rs190089844
|
|
|
NM_001329943.3(KIAA0586):c.1182A>C (p.Arg394Ser)
|
|
|
|
NM_001329943.3(KIAA0586):c.1187G>A (p.Ser396Asn)
|
rs1349839476
|
|
|
NM_001329943.3(KIAA0586):c.1189G>A (p.Glu397Lys)
|
|
|
|
NM_001329943.3(KIAA0586):c.1193del (p.Ser398fs)
|
|
|
|
NM_001329943.3(KIAA0586):c.1196C>T (p.Ser399Leu)
|
rs2140763302
|
|
|
NM_001329943.3(KIAA0586):c.1200C>T (p.Asn400=)
|
|
|
|
NM_001329943.3(KIAA0586):c.1203C>T (p.Thr401=)
|
rs2039565444
|
|
|
NM_001329943.3(KIAA0586):c.1225A>G (p.Ile409Val)
|
|
|
|
NM_001329943.3(KIAA0586):c.1233G>T (p.Trp411Cys)
|
rs548318176
|
|
|
NM_001329943.3(KIAA0586):c.1253+12A>T
|
|
|
|
NM_001329943.3(KIAA0586):c.1253+17G>A
|
|
|
|
NM_001329943.3(KIAA0586):c.1253+19A>C
|
|
|
|
NM_001329943.3(KIAA0586):c.1253+1G>A
|
|
|
|
NM_001329943.3(KIAA0586):c.1254-12A>G
|
|
|
|
NM_001329943.3(KIAA0586):c.1254-19A>T
|
rs2140825179
|
|
|
NM_001329943.3(KIAA0586):c.125G>A (p.Cys42Tyr)
|
|
|
|
NM_001329943.3(KIAA0586):c.126T>A (p.Cys42Ter)
|
rs1301378192
|
|
|
NM_001329943.3(KIAA0586):c.1273C>G (p.Leu425Val)
|
|
|
|
NM_001329943.3(KIAA0586):c.127G>A (p.Val43Ile)
|
|
|
|
NM_001329943.3(KIAA0586):c.1284T>C (p.Thr428=)
|
|
|
|
NM_001329943.3(KIAA0586):c.12dup (p.Glu5Ter)
|
|
|
|
NM_001329943.3(KIAA0586):c.1320T>C (p.His440=)
|
|
|
|
NM_001329943.3(KIAA0586):c.1329C>T (p.Gly443=)
|
|
|
|
NM_001329943.3(KIAA0586):c.1332A>G (p.Gln444=)
|
|
|
|
NM_001329943.3(KIAA0586):c.1342_1345del (p.Glu448fs)
|
|
|
|
NM_001329943.3(KIAA0586):c.134_137dup (p.Leu47fs)
|
|
|
|
NM_001329943.3(KIAA0586):c.135G>C (p.Pro45=)
|
|
|
|
NM_001329943.3(KIAA0586):c.1362+10G>T
|
|
|
|
NM_001329943.3(KIAA0586):c.1362+17C>T
|
|
|
|
NM_001329943.3(KIAA0586):c.1363-11T>C
|
rs2140842996
|
|
|
NM_001329943.3(KIAA0586):c.1369G>C (p.Glu457Gln)
|
rs2140843404
|
|
|
NM_001329943.3(KIAA0586):c.1373C>A (p.Ser458Tyr)
|
|
|
|
NM_001329943.3(KIAA0586):c.1377G>C (p.Leu459=)
|
|
|
|
NM_001329943.3(KIAA0586):c.138A>G (p.Ala46=)
|
|
|
|
NM_001329943.3(KIAA0586):c.1395A>G (p.Pro465=)
|
rs2140843741
|
|
|
NM_001329943.3(KIAA0586):c.139T>C (p.Leu47=)
|
|
|
|
NM_001329943.3(KIAA0586):c.1405C>A (p.Gln469Lys)
|
rs1323358756
|
|
|
NM_001329943.3(KIAA0586):c.1409A>G (p.Asn470Ser)
|
rs1245858530
|
|
|
NM_001329943.3(KIAA0586):c.1424A>T (p.Gln475Leu)
|
|
|
|
NM_001329943.3(KIAA0586):c.143C>T (p.Ser48Phe)
|
rs761150154
|
|
|
NM_001329943.3(KIAA0586):c.1443A>G (p.Arg481=)
|
|
|
|
NM_001329943.3(KIAA0586):c.1445C>T (p.Ser482Phe)
|
rs369211190
|
|
|
NM_001329943.3(KIAA0586):c.1447G>A (p.Val483Ile)
|
|
|
|
NM_001329943.3(KIAA0586):c.1450T>C (p.Leu484=)
|
|
|
|
NM_001329943.3(KIAA0586):c.1459G>T (p.Ala487Ser)
|
|
|
|
NM_001329943.3(KIAA0586):c.1466_1476del (p.Lys489fs)
|
rs2140844892
|
|
|
NM_001329943.3(KIAA0586):c.147A>G (p.Ala49=)
|
|
|
|
NM_001329943.3(KIAA0586):c.1484A>G (p.Gln495Arg)
|
rs2040004897
|
|
|
NM_001329943.3(KIAA0586):c.1487A>G (p.Asn496Ser)
|
|
|
|
NM_001329943.3(KIAA0586):c.1501C>T (p.Leu501Phe)
|
|
|
|
NM_001329943.3(KIAA0586):c.1503T>C (p.Leu501=)
|
|
|
|
NM_001329943.3(KIAA0586):c.1506A>G (p.Glu502=)
|
|
|
|
NM_001329943.3(KIAA0586):c.1508A>G (p.Glu503Gly)
|
|
|
|
NM_001329943.3(KIAA0586):c.1512C>A (p.Asn504Lys)
|
|
|
|
NM_001329943.3(KIAA0586):c.1513C>G (p.Leu505Val)
|
|
|
|
NM_001329943.3(KIAA0586):c.1515G>A (p.Leu505=)
|
|
|
|
NM_001329943.3(KIAA0586):c.1538A>G (p.Asp513Gly)
|
|
|
|
NM_001329943.3(KIAA0586):c.1569T>C (p.Ala523=)
|
|
|
|
NM_001329943.3(KIAA0586):c.1573T>C (p.Ser525Pro)
|
|
|
|
NM_001329943.3(KIAA0586):c.1575T>C (p.Ser525=)
|
|
|
|
NM_001329943.3(KIAA0586):c.1576A>T (p.Thr526Ser)
|
|
|
|
NM_001329943.3(KIAA0586):c.1578C>T (p.Thr526=)
|
|
|
|
NM_001329943.3(KIAA0586):c.1583+17A>G
|
|
|
|
NM_001329943.3(KIAA0586):c.1583+7G>A
|
rs1333490071
|
|
|
NM_001329943.3(KIAA0586):c.1584-14T>C
|
rs2140853060
|
|
|
NM_001329943.3(KIAA0586):c.1584-18C>A
|
|
|
|
NM_001329943.3(KIAA0586):c.1584-5del
|
|
|
|
NM_001329943.3(KIAA0586):c.1584A>G (p.Arg528=)
|
rs776054856
|
|
|
NM_001329943.3(KIAA0586):c.1593A>G (p.Ser531=)
|
|
|
|
NM_001329943.3(KIAA0586):c.1631T>G (p.Ile544Ser)
|
rs2140854100
|
|
|
NM_001329943.3(KIAA0586):c.1638T>C (p.Thr546=)
|
|
|
|
NM_001329943.3(KIAA0586):c.1645del (p.Ala549fs)
|
|
|
|
NM_001329943.3(KIAA0586):c.1651A>G (p.Ile551Val)
|
|
|
|
NM_001329943.3(KIAA0586):c.1654C>T (p.Gln552Ter)
|
|
|
|
NM_001329943.3(KIAA0586):c.1656+12A>G
|
|
|
|
NM_001329943.3(KIAA0586):c.1656+17A>T
|
|
|
|
NM_001329943.3(KIAA0586):c.1656+19C>A
|
|
|
|
NM_001329943.3(KIAA0586):c.1657-13T>C
|
|
|
|
NM_001329943.3(KIAA0586):c.1667C>T (p.Ser556Leu)
|
|
|
|
NM_001329943.3(KIAA0586):c.1667dup (p.Arg557fs)
|
rs2140873534
|
|
|
NM_001329943.3(KIAA0586):c.167G>A (p.Gly56Glu)
|
|
|
|
NM_001329943.3(KIAA0586):c.1680T>C (p.Tyr560=)
|
|
|
|
NM_001329943.3(KIAA0586):c.1708C>T (p.Gln570Ter)
|
rs2040187420
|
|
|
NM_001329943.3(KIAA0586):c.1716C>A (p.Thr572=)
|
|
|
|
NM_001329943.3(KIAA0586):c.171G>T (p.Thr57=)
|
|
|
|
NM_001329943.3(KIAA0586):c.1743dup (p.Ile582fs)
|
|
|
|
NM_001329943.3(KIAA0586):c.1745T>G (p.Ile582Ser)
|
|
|
|
NM_001329943.3(KIAA0586):c.1775A>G (p.Asn592Ser)
|
rs2140874422
|
|
|
NM_001329943.3(KIAA0586):c.1782T>A (p.Ser594=)
|
|
|
|
NM_001329943.3(KIAA0586):c.1799A>C (p.His600Pro)
|
|
|
|
NM_001329943.3(KIAA0586):c.1799A>G (p.His600Arg)
|
rs780461594
|
|
|
NM_001329943.3(KIAA0586):c.1804C>T (p.Gln602Ter)
|
rs1566827747
|
|
|
NM_001329943.3(KIAA0586):c.1810C>G (p.Gln604Glu)
|
|
|
|
NM_001329943.3(KIAA0586):c.1821G>A (p.Glu607=)
|
|
|
|
NM_001329943.3(KIAA0586):c.1824T>C (p.His608=)
|
|
|
|
NM_001329943.3(KIAA0586):c.1836A>C (p.Leu612=)
|
rs567927914
|
|
|
NM_001329943.3(KIAA0586):c.1836A>G (p.Leu612=)
|
rs567927914
|
|
|
NM_001329943.3(KIAA0586):c.1852C>G (p.Pro618Ala)
|
|
|
|
NM_001329943.3(KIAA0586):c.1861A>G (p.Ser621Gly)
|
|
|
|
NM_001329943.3(KIAA0586):c.1870A>G (p.Lys624Glu)
|
|
|
|
NM_001329943.3(KIAA0586):c.1872del (p.Glu625fs)
|
rs2140875258
|
|
|
NM_001329943.3(KIAA0586):c.1875G>A (p.Glu625=)
|
|
|
|
NM_001329943.3(KIAA0586):c.1881G>A (p.Lys627=)
|
|
|
|
NM_001329943.3(KIAA0586):c.1884+15T>C
|
rs1313237040
|
|
|
NM_001329943.3(KIAA0586):c.1884+1G>T
|
|
|
|
NM_001329943.3(KIAA0586):c.1885-12T>G
|
|
|
|
NM_001329943.3(KIAA0586):c.1885-12_1885-11del
|
|
|
|
NM_001329943.3(KIAA0586):c.1885-15A>T
|
|
|
|
NM_001329943.3(KIAA0586):c.1885-5C>T
|
rs752142962
|
|
|
NM_001329943.3(KIAA0586):c.1886G>A (p.Gly629Glu)
|
rs940229482
|
|
|
NM_001329943.3(KIAA0586):c.1892dup (p.Leu631fs)
|
|
|
|
NM_001329943.3(KIAA0586):c.1903A>G (p.Thr635Ala)
|
|
|
|
NM_001329943.3(KIAA0586):c.1916A>G (p.Asp639Gly)
|
rs1210187670
|
|
|
NM_001329943.3(KIAA0586):c.1917T>C (p.Asp639=)
|
rs376649351
|
|
|
NM_001329943.3(KIAA0586):c.1920A>G (p.Glu640=)
|
rs1477846398
|
|
|
NM_001329943.3(KIAA0586):c.1927_1928del (p.Met643fs)
|
|
|
|
NM_001329943.3(KIAA0586):c.1932A>T (p.Leu644Phe)
|
rs2140886222
|
|
|
NM_001329943.3(KIAA0586):c.1935del (p.Val646fs)
|
rs2140886312
|
|
|
NM_001329943.3(KIAA0586):c.193T>C (p.Ser65Pro)
|
rs1473572852
|
|
|
NM_001329943.3(KIAA0586):c.1964A>G (p.His655Arg)
|
rs769913250
|
|
|
NM_001329943.3(KIAA0586):c.1974T>C (p.Thr658=)
|
|
|
|
NM_001329943.3(KIAA0586):c.1989A>G (p.Pro663=)
|
|
|
|
NM_001329943.3(KIAA0586):c.199+13A>C
|
rs769176872
|
|
|
NM_001329943.3(KIAA0586):c.199+13A>G
|
|
|
|
NM_001329943.3(KIAA0586):c.199+15G>A
|
|
|
|
NM_001329943.3(KIAA0586):c.199+23del
|
rs537837939
|
|
|
NM_001329943.3(KIAA0586):c.1999T>C (p.Phe667Leu)
|
|
|
|
NM_001329943.3(KIAA0586):c.199G>A (p.Gly67Ser)
|
rs2140375856
|
|
|
NM_001329943.3(KIAA0586):c.200-2A>G
|
|
|
|
NM_001329943.3(KIAA0586):c.200-5G>A
|
|
|
|
NM_001329943.3(KIAA0586):c.2002A>T (p.Asn668Tyr)
|
|
|
|
NM_001329943.3(KIAA0586):c.2012C>G (p.Ser671Cys)
|
|
|
|
NM_001329943.3(KIAA0586):c.2016T>C (p.Pro672=)
|
|
|
|
NM_001329943.3(KIAA0586):c.2017A>G (p.Lys673Glu)
|
|
|
|
NM_001329943.3(KIAA0586):c.2022C>T (p.Ser674=)
|
rs2140887489
|
|
|
NM_001329943.3(KIAA0586):c.2024G>A (p.Arg675Lys)
|
|
|
|
NM_001329943.3(KIAA0586):c.2032A>C (p.Arg678=)
|
rs190081177
|
|
|
NM_001329943.3(KIAA0586):c.2034A>G (p.Arg678=)
|
|
|
|
NM_001329943.3(KIAA0586):c.2037A>G (p.Pro679=)
|
|
|
|
NM_001329943.3(KIAA0586):c.2041G>C (p.Val681Leu)
|
|
|
|
NM_001329943.3(KIAA0586):c.2044A>T (p.Ile682Leu)
|
rs751924115
|
|
|
NM_001329943.3(KIAA0586):c.2047_2048del (p.Glu683fs)
|
rs2140887842
|
|
|
NM_001329943.3(KIAA0586):c.2059+20A>G
|
|
|
|
NM_001329943.3(KIAA0586):c.2059G>T (p.Gly687Cys)
|
|
|
|
NM_001329943.3(KIAA0586):c.2060-16T>C
|
|
|
|
NM_001329943.3(KIAA0586):c.2060-19C>T
|
|
|
|
NM_001329943.3(KIAA0586):c.2060G>T (p.Gly687Val)
|
|
|
|
NM_001329943.3(KIAA0586):c.2061C>G (p.Gly687=)
|
|
|
|
NM_001329943.3(KIAA0586):c.2062A>G (p.Thr688Ala)
|
rs2140939104
|
|
|
NM_001329943.3(KIAA0586):c.2063C>A (p.Thr688Asn)
|
rs1868384082
|
|
|
NM_001329943.3(KIAA0586):c.2105C>T (p.Thr702Ile)
|
|
|
|
NM_001329943.3(KIAA0586):c.2131A>G (p.Met711Val)
|
|
|
|
NM_001329943.3(KIAA0586):c.213_270+11dup
|
|
|
|
NM_001329943.3(KIAA0586):c.2141C>G (p.Ser714Cys)
|
rs2140939862
|
|
|
NM_001329943.3(KIAA0586):c.2153T>C (p.Leu718Ser)
|
|
|
|
NM_001329943.3(KIAA0586):c.2158C>T (p.His720Tyr)
|
rs757373300
|
|
|
NM_001329943.3(KIAA0586):c.215C>A (p.Thr72Asn)
|
|
|
|
NM_001329943.3(KIAA0586):c.2164G>A (p.Asp722Asn)
|
|
|
|
NM_001329943.3(KIAA0586):c.2164G>T (p.Asp722Tyr)
|
rs750671663
|
|
|
NM_001329943.3(KIAA0586):c.2175T>C (p.Tyr725=)
|
|
|
|
NM_001329943.3(KIAA0586):c.2185C>T (p.Pro729Ser)
|
rs2140940326
|
|
|
NM_001329943.3(KIAA0586):c.2203A>G (p.Thr735Ala)
|
rs1489902309
|
|
|
NM_001329943.3(KIAA0586):c.2207T>A (p.Phe736Tyr)
|
|
|
|
NM_001329943.3(KIAA0586):c.2213G>T (p.Gly738Val)
|
|
|
|
NM_001329943.3(KIAA0586):c.2239A>G (p.Met747Val)
|
|
|
|
NM_001329943.3(KIAA0586):c.2254+17T>C
|
rs2140941167
|
|
|
NM_001329943.3(KIAA0586):c.2254+1G>T
|
|
|
|
NM_001329943.3(KIAA0586):c.2254+20G>T
|
|
|
|
NM_001329943.3(KIAA0586):c.2255-3T>C
|
rs2140956887
|
|
|
NM_001329943.3(KIAA0586):c.2257C>T (p.Gln753Ter)
|
|
|
|
NM_001329943.3(KIAA0586):c.2260A>T (p.Thr754Ser)
|
|
|
|
NM_001329943.3(KIAA0586):c.2262C>T (p.Thr754=)
|
|
|
|
NM_001329943.3(KIAA0586):c.2270A>G (p.Asn757Ser)
|
|
|
|
NM_001329943.3(KIAA0586):c.2280C>T (p.Thr760=)
|
|
|
|
NM_001329943.3(KIAA0586):c.2304C>T (p.Val768=)
|
|
|
|
NM_001329943.3(KIAA0586):c.2320G>A (p.Val774Ile)
|
|
|
|
NM_001329943.3(KIAA0586):c.2324C>A (p.Thr775Asn)
|
rs2140957750
|
|
|
NM_001329943.3(KIAA0586):c.2348C>T (p.Ser783Leu)
|
|
|
|
NM_001329943.3(KIAA0586):c.235C>T (p.Gln79Ter)
|
|
|
|
NM_001329943.3(KIAA0586):c.2362G>A (p.Glu788Lys)
|
|
|
|
NM_001329943.3(KIAA0586):c.2380C>T (p.Pro794Ser)
|
|
|
|
NM_001329943.3(KIAA0586):c.2388A>G (p.Ile796Met)
|
|
|
|
NM_001329943.3(KIAA0586):c.2405del (p.Lys802fs)
|
|
|
|
NM_001329943.3(KIAA0586):c.2411A>G (p.Glu804Gly)
|
rs1302610013
|
|
|
NM_001329943.3(KIAA0586):c.2411A>T (p.Glu804Val)
|
rs1302610013
|
|
|
NM_001329943.3(KIAA0586):c.2413A>G (p.Lys805Glu)
|
|
|
|
NM_001329943.3(KIAA0586):c.241C>G (p.Leu81Val)
|
rs2140391234
|
|
|
NM_001329943.3(KIAA0586):c.2426C>T (p.Pro809Leu)
|
|
|
|
NM_001329943.3(KIAA0586):c.2435C>A (p.Thr812Asn)
|
|
|
|
NM_001329943.3(KIAA0586):c.2437G>A (p.Val813Met)
|
|
|
|
NM_001329943.3(KIAA0586):c.2442+11del
|
rs753806115
|
|
|
NM_001329943.3(KIAA0586):c.2442+15A>C
|
|
|
|
NM_001329943.3(KIAA0586):c.2442+16T>C
|
|
|
|
NM_001329943.3(KIAA0586):c.2442+9G>A
|
rs1490718693
|
|
|
NM_001329943.3(KIAA0586):c.2443-14G>A
|
|
|
|
NM_001329943.3(KIAA0586):c.2443-18T>C
|
|
|
|
NM_001329943.3(KIAA0586):c.2443-19A>G
|
|
|
|
NM_001329943.3(KIAA0586):c.2443-4T>C
|
rs911579183
|
|
|
NM_001329943.3(KIAA0586):c.2445A>G (p.Val815=)
|
|
|
|
NM_001329943.3(KIAA0586):c.2449C>G (p.Pro817Ala)
|
|
|
|
NM_001329943.3(KIAA0586):c.2451C>T (p.Pro817=)
|
|
|
|
NM_001329943.3(KIAA0586):c.2461A>G (p.Ile821Val)
|
|
|
|
NM_001329943.3(KIAA0586):c.2462T>C (p.Ile821Thr)
|
rs1320727649
|
|
|
NM_001329943.3(KIAA0586):c.2465A>G (p.Asp822Gly)
|
|
|
|
NM_001329943.3(KIAA0586):c.2469C>A (p.Ser823Arg)
|
|
|
|
NM_001329943.3(KIAA0586):c.2469C>T (p.Ser823=)
|
|
|
|
NM_001329943.3(KIAA0586):c.2469_2483del (p.Ile824_Ser828del)
|
rs750244824
|
|
|
NM_001329943.3(KIAA0586):c.2476A>C (p.Asn826His)
|
rs763982126
|
|
|
NM_001329943.3(KIAA0586):c.2476A>G (p.Asn826Asp)
|
|
|
|
NM_001329943.3(KIAA0586):c.2480G>A (p.Ser827Asn)
|
|
|
|
NM_001329943.3(KIAA0586):c.2481T>C (p.Ser827=)
|
|
|
|
NM_001329943.3(KIAA0586):c.2486C>A (p.Ala829Asp)
|
|
|
|
NM_001329943.3(KIAA0586):c.2486C>T (p.Ala829Val)
|
rs200219991
|
|
|
NM_001329943.3(KIAA0586):c.24G>A (p.Leu8=)
|
rs761492303
|
|
|
NM_001329943.3(KIAA0586):c.2505G>A (p.Leu835=)
|
rs751246498
|
|
|
NM_001329943.3(KIAA0586):c.2521G>A (p.Ala841Thr)
|
rs2140987094
|
|
|
NM_001329943.3(KIAA0586):c.2525C>T (p.Ser842Phe)
|
rs749680733
|
|
|
NM_001329943.3(KIAA0586):c.2535T>A (p.Pro845=)
|
|
|
|
NM_001329943.3(KIAA0586):c.253C>T (p.Pro85Ser)
|
|
|
|
NM_001329943.3(KIAA0586):c.2553+20C>A
|
|
|
|
NM_001329943.3(KIAA0586):c.2553+6T>C
|
|
|
|
NM_001329943.3(KIAA0586):c.2553G>A (p.Lys851=)
|
rs1024217852
|
|
|
NM_001329943.3(KIAA0586):c.2553G>T (p.Lys851Asn)
|
|
|
|
NM_001329943.3(KIAA0586):c.2554-14A>G
|
|
|
|
NM_001329943.3(KIAA0586):c.2554-4T>G
|
|
|
|
NM_001329943.3(KIAA0586):c.2554-9C>A
|
|
|
|
NM_001329943.3(KIAA0586):c.2556T>G (p.Thr852=)
|
|
|
|
NM_001329943.3(KIAA0586):c.2557C>T (p.Pro853Ser)
|
|
|
|
NM_001329943.3(KIAA0586):c.257T>G (p.Met86Arg)
|
rs74055693
|
|
|
NM_001329943.3(KIAA0586):c.2598A>G (p.Pro866=)
|
|
|
|
NM_001329943.3(KIAA0586):c.25G>T (p.Glu9Ter)
|
rs2140372917
|
|
|
NM_001329943.3(KIAA0586):c.2617A>G (p.Ile873Val)
|
rs2041278053
|
|
|
NM_001329943.3(KIAA0586):c.261G>T (p.Val87=)
|
|
|
|
NM_001329943.3(KIAA0586):c.2622C>G (p.Ile874Met)
|
|
|
|
NM_001329943.3(KIAA0586):c.2624A>T (p.Asp875Val)
|
rs868621645
|
|
|
NM_001329943.3(KIAA0586):c.2630T>C (p.Ile877Thr)
|
|
|
|
NM_001329943.3(KIAA0586):c.2634+10C>G
|
|
|
|
NM_001329943.3(KIAA0586):c.2634+12T>C
|
rs766964981
|
|
|
NM_001329943.3(KIAA0586):c.2634+1G>T
|
|
|
|
NM_001329943.3(KIAA0586):c.2634+5C>G
|
|
|
|
NM_001329943.3(KIAA0586):c.264A>G (p.Ser88=)
|
rs2037178345
|
|
|
NM_001329943.3(KIAA0586):c.2650G>A (p.Asp884Asn)
|
|
|
|
NM_001329943.3(KIAA0586):c.2693G>A (p.Ser898Asn)
|
rs760087214
|
|
|
NM_001329943.3(KIAA0586):c.269G>C (p.Ser90Thr)
|
rs780403471
|
|
|
NM_001329943.3(KIAA0586):c.270+3A>G
|
rs2140391500
|
|
|
NM_001329943.3(KIAA0586):c.270+7A>C
|
|
|
|
NM_001329943.3(KIAA0586):c.2708C>A (p.Ser903Tyr)
|
|
|
|
NM_001329943.3(KIAA0586):c.271-1G>A
|
|
|
|
NM_001329943.3(KIAA0586):c.2717A>G (p.Tyr906Cys)
|
|
|
|
NM_001329943.3(KIAA0586):c.2723G>C (p.Gly908Ala)
|
rs753434086
|
|
|
NM_001329943.3(KIAA0586):c.2729C>T (p.Pro910Leu)
|
|
|
|
NM_001329943.3(KIAA0586):c.272A>G (p.Asp91Gly)
|
|
|
|
NM_001329943.3(KIAA0586):c.2749A>G (p.Thr917Ala)
|
|
|
|
NM_001329943.3(KIAA0586):c.2756A>G (p.Gln919Arg)
|
rs2141025129
|
|
|
NM_001329943.3(KIAA0586):c.2758C>G (p.Pro920Ala)
|
|
|
|
NM_001329943.3(KIAA0586):c.2786T>C (p.Ile929Thr)
|
|
|
|
NM_001329943.3(KIAA0586):c.2787T>C (p.Ile929=)
|
|
|
|
NM_001329943.3(KIAA0586):c.2788_2802del (p.Glu930_Thr934del)
|
rs2141025393
|
|
|
NM_001329943.3(KIAA0586):c.2796A>G (p.Lys932=)
|
|
|
|
NM_001329943.3(KIAA0586):c.2800del (p.Thr934fs)
|
|
|
|
NM_001329943.3(KIAA0586):c.2810del (p.Asn937fs)
|
|
|
|
NM_001329943.3(KIAA0586):c.2822A>G (p.Gln941Arg)
|
|
|
|
NM_001329943.3(KIAA0586):c.2825+15T>G
|
|
|
|
NM_001329943.3(KIAA0586):c.2825+1G>A
|
rs2141025675
|
|
|
NM_001329943.3(KIAA0586):c.2826-10A>G
|
|
|
|
NM_001329943.3(KIAA0586):c.2826-11C>T
|
|
|
|
NM_001329943.3(KIAA0586):c.2826-12C>T
|
|
|
|
NM_001329943.3(KIAA0586):c.2826-8C>A
|
rs2141053167
|
|
|
NM_001329943.3(KIAA0586):c.2839A>G (p.Ile947Val)
|
|
|
|
NM_001329943.3(KIAA0586):c.2847A>C (p.Ser949=)
|
|
|
|
NM_001329943.3(KIAA0586):c.2849G>T (p.Arg950Ile)
|
rs2141053576
|
|
|
NM_001329943.3(KIAA0586):c.2860G>T (p.Gly954Trp)
|
|
|
|
NM_001329943.3(KIAA0586):c.2877G>A (p.Gln959=)
|
|
|
|
NM_001329943.3(KIAA0586):c.2883G>A (p.Gln961=)
|
rs1187492772
|
|
|
NM_001329943.3(KIAA0586):c.2885T>C (p.Ile962Thr)
|
|
|
|
NM_001329943.3(KIAA0586):c.2890C>T (p.Pro964Ser)
|
|
|
|
NM_001329943.3(KIAA0586):c.2894G>T (p.Ser965Ile)
|
rs1161690227
|
|
|
NM_001329943.3(KIAA0586):c.2907A>G (p.Ser969=)
|
|
|
|
NM_001329943.3(KIAA0586):c.2924A>G (p.Glu975Gly)
|
rs2141054763
|
|
|
NM_001329943.3(KIAA0586):c.2928A>G (p.Pro976=)
|
|
|
|
NM_001329943.3(KIAA0586):c.2936C>T (p.Ser979Phe)
|
|
|
|
NM_001329943.3(KIAA0586):c.2944+13G>A
|
|
|
|
NM_001329943.3(KIAA0586):c.2944+16T>A
|
|
|
|
NM_001329943.3(KIAA0586):c.2944+17T>G
|
|
|
|
NM_001329943.3(KIAA0586):c.2944+19T>A
|
|
|
|
NM_001329943.3(KIAA0586):c.2944+24dup
|
rs768128741
|
|
|
NM_001329943.3(KIAA0586):c.2945-1G>C
|
|
|
|
NM_001329943.3(KIAA0586):c.2945-4T>C
|
|
|
|
NM_001329943.3(KIAA0586):c.2945-9del
|
|
|
|
NM_001329943.3(KIAA0586):c.2953A>G (p.Thr985Ala)
|
|
|
|
NM_001329943.3(KIAA0586):c.2960G>A (p.Ser987Asn)
|
|
|
|
NM_001329943.3(KIAA0586):c.2961T>C (p.Ser987=)
|
|
|
|
NM_001329943.3(KIAA0586):c.2976T>A (p.Leu992=)
|
|
|
|
NM_001329943.3(KIAA0586):c.2976T>G (p.Leu992=)
|
|
|
|
NM_001329943.3(KIAA0586):c.2977T>C (p.Phe993Leu)
|
|
|
|
NM_001329943.3(KIAA0586):c.2990G>T (p.Gly997Val)
|
|
|
|
NM_001329943.3(KIAA0586):c.2991T>C (p.Gly997=)
|
|
|
|
NM_001329943.3(KIAA0586):c.2997T>G (p.Pro999=)
|
rs1284387922
|
|
|
NM_001329943.3(KIAA0586):c.2T>A (p.Met1Lys)
|
rs2140372595
|
|
|
NM_001329943.3(KIAA0586):c.3018A>G (p.Lys1006=)
|
|
|
|
NM_001329943.3(KIAA0586):c.3037C>G (p.Leu1013Val)
|
|
|
|
NM_001329943.3(KIAA0586):c.3053C>A (p.Ala1018Asp)
|
rs182274649
|
|
|
NM_001329943.3(KIAA0586):c.3058A>G (p.Met1020Val)
|
rs767378597
|
|
|
NM_001329943.3(KIAA0586):c.306T>G (p.Pro102=)
|
|
|
|
NM_001329943.3(KIAA0586):c.3077C>T (p.Ala1026Val)
|
|
|
|
NM_001329943.3(KIAA0586):c.3089G>A (p.Gly1030Asp)
|
rs2042116751
|
|
|
NM_001329943.3(KIAA0586):c.3110C>G (p.Ser1037Cys)
|
rs367811307
|
|
|
NM_001329943.3(KIAA0586):c.3123A>C (p.Ser1041=)
|
|
|
|
NM_001329943.3(KIAA0586):c.3129T>C (p.Asn1043=)
|
|
|
|
NM_001329943.3(KIAA0586):c.3142_3144+5del
|
rs771240219
|
|
|
NM_001329943.3(KIAA0586):c.3144+15del
|
|
|
|
NM_001329943.3(KIAA0586):c.3144+1G>A
|
|
|
|
NM_001329943.3(KIAA0586):c.3144+20C>G
|
|
|
|
NM_001329943.3(KIAA0586):c.3144+20C>T
|
|
|
|
NM_001329943.3(KIAA0586):c.3144+2T>C
|
|
|
|
NM_001329943.3(KIAA0586):c.3144+3A>G
|
rs956345090
|
|
|
NM_001329943.3(KIAA0586):c.3144+7G>A
|
|
|
|
NM_001329943.3(KIAA0586):c.3145-12T>C
|
|
|
|
NM_001329943.3(KIAA0586):c.3145-16G>A
|
|
|
|
NM_001329943.3(KIAA0586):c.3145-6_3145-2del
|
|
|
|
NM_001329943.3(KIAA0586):c.3145-8T>C
|
|
|
|
NM_001329943.3(KIAA0586):c.3149G>A (p.Arg1050Lys)
|
rs1472123420
|
|
|
NM_001329943.3(KIAA0586):c.3152T>C (p.Val1051Ala)
|
|
|
|
NM_001329943.3(KIAA0586):c.3164T>C (p.Leu1055Pro)
|
rs1453619075
|
|
|
NM_001329943.3(KIAA0586):c.3165_3166delinsAG (p.Pro1056Ala)
|
rs386777947
|
|
|
NM_001329943.3(KIAA0586):c.3169_3171dup (p.Thr1057_Pro1058insThr)
|
|
|
|
NM_001329943.3(KIAA0586):c.3173del (p.Pro1058fs)
|
|
|
|
NM_001329943.3(KIAA0586):c.3179C>G (p.Pro1060Arg)
|
|
|
|
NM_001329943.3(KIAA0586):c.3182C>T (p.Thr1061Met)
|
|
|
|
NM_001329943.3(KIAA0586):c.3185C>T (p.Pro1062Leu)
|
|
|
|
NM_001329943.3(KIAA0586):c.3190T>A (p.Cys1064Ser)
|
|
|
|
NM_001329943.3(KIAA0586):c.319G>A (p.Glu107Lys)
|
rs2140404760
|
|
|
NM_001329943.3(KIAA0586):c.3206C>T (p.Pro1069Leu)
|
rs2141182370
|
|
|
NM_001329943.3(KIAA0586):c.3211A>T (p.Lys1071Ter)
|
|
|
|
NM_001329943.3(KIAA0586):c.3216G>A (p.Glu1072=)
|
rs528416301
|
|
|
NM_001329943.3(KIAA0586):c.3226G>A (p.Val1076Ile)
|
|
|
|
NM_001329943.3(KIAA0586):c.3226G>T (p.Val1076Leu)
|
|
|
|
NM_001329943.3(KIAA0586):c.322G>A (p.Glu108Lys)
|
|
|
|
NM_001329943.3(KIAA0586):c.3232A>G (p.Thr1078Ala)
|
|
|
|
NM_001329943.3(KIAA0586):c.3238G>A (p.Asp1080Asn)
|
rs2042507801
|
|
|
NM_001329943.3(KIAA0586):c.3250T>C (p.Cys1084Arg)
|
|
|
|
NM_001329943.3(KIAA0586):c.3266A>G (p.Asp1089Gly)
|
rs187091758
|
|
|
NM_001329943.3(KIAA0586):c.3300A>T (p.Glu1100Asp)
|
|
|
|
NM_001329943.3(KIAA0586):c.3304+14_3304+19del
|
|
|
|
NM_001329943.3(KIAA0586):c.3304+5A>C
|
|
|
|
NM_001329943.3(KIAA0586):c.3304+9_3304+10insAG
|
rs2141183723
|
|
|
NM_001329943.3(KIAA0586):c.3304G>A (p.Gly1102Arg)
|
|
|
|
NM_001329943.3(KIAA0586):c.3305-17T>A
|
|
|
|
NM_001329943.3(KIAA0586):c.3305-17_3305-16insG
|
|
|
|
NM_001329943.3(KIAA0586):c.3305-18_3305-17insA
|
|
|
|
NM_001329943.3(KIAA0586):c.3305-3T>C
|
|
|
|
NM_001329943.3(KIAA0586):c.3305-8dup
|
rs5808973
|
|
|
NM_001329943.3(KIAA0586):c.3305-9_3305-8dup
|
rs5808973
|
|
|
NM_001329943.3(KIAA0586):c.3307G>A (p.Asp1103Asn)
|
rs2141192396
|
|
|
NM_001329943.3(KIAA0586):c.3322A>G (p.Ile1108Val)
|
|
|
|
NM_001329943.3(KIAA0586):c.3326T>C (p.Met1109Thr)
|
|
|
|
NM_001329943.3(KIAA0586):c.3338C>T (p.Thr1113Ile)
|
|
|
|
NM_001329943.3(KIAA0586):c.3339T>C (p.Thr1113=)
|
|
|
|
NM_001329943.3(KIAA0586):c.3341dup (p.Thr1115fs)
|
|
|
|
NM_001329943.3(KIAA0586):c.3351C>A (p.Thr1117=)
|
|
|
|
NM_001329943.3(KIAA0586):c.3353del (p.Pro1118fs)
|
rs2141193077
|
|
|
NM_001329943.3(KIAA0586):c.335A>G (p.Gln112Arg)
|
|
|
|
NM_001329943.3(KIAA0586):c.3362C>T (p.Thr1121Ile)
|
rs2141193303
|
|
|
NM_001329943.3(KIAA0586):c.3366T>G (p.Pro1122=)
|
|
|
|
NM_001329943.3(KIAA0586):c.3366TCC[1] (p.Pro1124del)
|
rs770153870
|
|
|
NM_001329943.3(KIAA0586):c.336A>G (p.Gln112=)
|
|
|
|
NM_001329943.3(KIAA0586):c.3371C>T (p.Pro1124Leu)
|
|
|
|
NM_001329943.3(KIAA0586):c.3372A>G (p.Pro1124=)
|
|
|
|
NM_001329943.3(KIAA0586):c.3373G>A (p.Ala1125Thr)
|
rs2141193523
|
|
|
NM_001329943.3(KIAA0586):c.3378G>A (p.Ala1126=)
|
|
|
|
NM_001329943.3(KIAA0586):c.3381A>C (p.Ala1127=)
|
|
|
|
NM_001329943.3(KIAA0586):c.3390C>T (p.Thr1130=)
|
rs2141193804
|
|
|
NM_001329943.3(KIAA0586):c.3394A>G (p.Thr1132Ala)
|
|
|
|
NM_001329943.3(KIAA0586):c.3399G>T (p.Leu1133Phe)
|
rs1409454378
|
|
|
NM_001329943.3(KIAA0586):c.33A>G (p.Lys11=)
|
rs2140373069
|
|
|
NM_001329943.3(KIAA0586):c.33A>T (p.Lys11Asn)
|
|
|
|
NM_001329943.3(KIAA0586):c.340+13T>G
|
|
|
|
NM_001329943.3(KIAA0586):c.340+14A>G
|
|
|
|
NM_001329943.3(KIAA0586):c.340+25dup
|
rs770708728
|
|
|
NM_001329943.3(KIAA0586):c.340+6del
|
|
|
|
NM_001329943.3(KIAA0586):c.3405T>G (p.Asp1135Glu)
|
|
|
|
NM_001329943.3(KIAA0586):c.341-17G>C
|
|
|
|
NM_001329943.3(KIAA0586):c.341-2A>G
|
|
|
|
NM_001329943.3(KIAA0586):c.3415_3416delinsTG (p.Asp1139Cys)
|
rs2141194171
|
|
|
NM_001329943.3(KIAA0586):c.3418A>G (p.Lys1140Glu)
|
|
|
|
NM_001329943.3(KIAA0586):c.3427G>T (p.Val1143Leu)
|
|
|
|
NM_001329943.3(KIAA0586):c.3433A>T (p.Ser1145Cys)
|
|
|
|
NM_001329943.3(KIAA0586):c.3437C>T (p.Pro1146Leu)
|
rs2042587558
|
|
|
NM_001329943.3(KIAA0586):c.3438A>G (p.Pro1146=)
|
|
|
|
NM_001329943.3(KIAA0586):c.344A>C (p.Asn115Thr)
|
|
|
|
NM_001329943.3(KIAA0586):c.3451C>A (p.Pro1151Thr)
|
rs2141194729
|
|
|
NM_001329943.3(KIAA0586):c.3458G>T (p.Gly1153Val)
|
rs2141194889
|
|
|
NM_001329943.3(KIAA0586):c.345T>A (p.Asn115Lys)
|
rs778492541
|
|
|
NM_001329943.3(KIAA0586):c.3461A>T (p.Asp1154Val)
|
|
|
|
NM_001329943.3(KIAA0586):c.3474A>C (p.Pro1158=)
|
rs759687892
|
|
|
NM_001329943.3(KIAA0586):c.3479A>C (p.Glu1160Ala)
|
|
|
|
NM_001329943.3(KIAA0586):c.3481G>T (p.Glu1161Ter)
|
|
|
|
NM_001329943.3(KIAA0586):c.3490C>T (p.Pro1164Ser)
|
|
|
|
NM_001329943.3(KIAA0586):c.3500C>T (p.Pro1167Leu)
|
|
|
|
NM_001329943.3(KIAA0586):c.3505GAA[1] (p.Glu1170del)
|
rs778377845
|
|
|
NM_001329943.3(KIAA0586):c.3510A>T (p.Glu1170Asp)
|
|
|
|
NM_001329943.3(KIAA0586):c.3518C>G (p.Pro1173Arg)
|
rs2141195740
|
|
|
NM_001329943.3(KIAA0586):c.3527+17T>C
|
|
|
|
NM_001329943.3(KIAA0586):c.3528-15T>G
|
rs752835695
|
|
|
NM_001329943.3(KIAA0586):c.3528-16G>A
|
|
|
|
NM_001329943.3(KIAA0586):c.3544A>G (p.Lys1182Glu)
|
|
|
|
NM_001329943.3(KIAA0586):c.3561G>A (p.Glu1187=)
|
|
|
|
NM_001329943.3(KIAA0586):c.3562A>T (p.Ser1188Cys)
|
|
|
|
NM_001329943.3(KIAA0586):c.3564T>C (p.Ser1188=)
|
|
|
|
NM_001329943.3(KIAA0586):c.3566T>C (p.Met1189Thr)
|
|
|
|
NM_001329943.3(KIAA0586):c.3574C>T (p.Pro1192Ser)
|
|
|
|
NM_001329943.3(KIAA0586):c.3589C>T (p.Pro1197Ser)
|
|
|
|
NM_001329943.3(KIAA0586):c.3598C>G (p.Pro1200Ala)
|
|
|
|
NM_001329943.3(KIAA0586):c.3620C>T (p.Pro1207Leu)
|
rs750251144
|
|
|
NM_001329943.3(KIAA0586):c.3624C>T (p.Ala1208=)
|
rs367676896
|
|
|
NM_001329943.3(KIAA0586):c.362A>T (p.Gln121Leu)
|
|
|
|
NM_001329943.3(KIAA0586):c.3631A>C (p.Lys1211Gln)
|
rs754567597
|
|
|
NM_001329943.3(KIAA0586):c.3633G>C (p.Lys1211Asn)
|
rs780785984
|
|
|
NM_001329943.3(KIAA0586):c.3638del (p.Pro1213fs)
|
rs2141202895
|
|
|
NM_001329943.3(KIAA0586):c.3639T>G (p.Pro1213=)
|
rs2141202944
|
|
|
NM_001329943.3(KIAA0586):c.363G>A (p.Gln121=)
|
rs368352741
|
|
|
NM_001329943.3(KIAA0586):c.363G>T (p.Gln121His)
|
rs368352741
|
|
|
NM_001329943.3(KIAA0586):c.3645C>T (p.Pro1215=)
|
|
|
|
NM_001329943.3(KIAA0586):c.3651G>A (p.Gln1217=)
|
rs1489789614
|
|
|
NM_001329943.3(KIAA0586):c.365A>G (p.Tyr122Cys)
|
rs746136288
|
|
|
NM_001329943.3(KIAA0586):c.3669A>G (p.Ser1223=)
|
|
|
|
NM_001329943.3(KIAA0586):c.3670T>G (p.Ser1224Ala)
|
rs1292752792
|
|
|
NM_001329943.3(KIAA0586):c.3673A>G (p.Thr1225Ala)
|
|
|
|
NM_001329943.3(KIAA0586):c.367A>T (p.Thr123Ser)
|
rs183240083
|
|
|
NM_001329943.3(KIAA0586):c.3685A>C (p.Thr1229Pro)
|
|
|
|
NM_001329943.3(KIAA0586):c.368C>A (p.Thr123Lys)
|
rs2140422825
|
|
|
NM_001329943.3(KIAA0586):c.36A>G (p.Lys12=)
|
rs372215354
|
|
|
NM_001329943.3(KIAA0586):c.3704C>T (p.Thr1235Ile)
|
|
|
|
NM_001329943.3(KIAA0586):c.370A>G (p.Met124Val)
|
rs2037453984
|
|
|
NM_001329943.3(KIAA0586):c.3716C>T (p.Thr1239Ile)
|
|
|
|
NM_001329943.3(KIAA0586):c.3718_3719del (p.Leu1240fs)
|
|
|
|
NM_001329943.3(KIAA0586):c.3739G>A (p.Gly1247Arg)
|
rs1595348112
|
|
|
NM_001329943.3(KIAA0586):c.374G>A (p.Gly125Glu)
|
|
|
|
NM_001329943.3(KIAA0586):c.3777C>T (p.Pro1259=)
|
|
|
|
NM_001329943.3(KIAA0586):c.3780G>A (p.Lys1260=)
|
|
|
|
NM_001329943.3(KIAA0586):c.3781+18A>G
|
|
|
|
NM_001329943.3(KIAA0586):c.3782-18T>A
|
|
|
|
NM_001329943.3(KIAA0586):c.3786A>G (p.Leu1262=)
|
|
|
|
NM_001329943.3(KIAA0586):c.3793dup (p.Ile1265fs)
|
|
|
|
NM_001329943.3(KIAA0586):c.3794T>C (p.Ile1265Thr)
|
rs756960694
|
|
|
NM_001329943.3(KIAA0586):c.3799C>G (p.Leu1267Val)
|
rs1425457941
|
|
|
NM_001329943.3(KIAA0586):c.3804C>G (p.Tyr1268Ter)
|
|
|
|
NM_001329943.3(KIAA0586):c.3808A>G (p.Thr1270Ala)
|
|
|
|
NM_001329943.3(KIAA0586):c.3813C>T (p.Asn1271=)
|
|
|
|
NM_001329943.3(KIAA0586):c.381A>G (p.Lys127=)
|
|
|
|
NM_001329943.3(KIAA0586):c.3820_3822del (p.Asp1274del)
|
rs1399193101
|
|
|
NM_001329943.3(KIAA0586):c.3821A>G (p.Asp1274Gly)
|
|
|
|
NM_001329943.3(KIAA0586):c.3824G>C (p.Ser1275Thr)
|
rs748648408
|
|
|
NM_001329943.3(KIAA0586):c.3843T>A (p.His1281Gln)
|
|
|
|
NM_001329943.3(KIAA0586):c.3850G>A (p.Val1284Ile)
|
|
|
|
NM_001329943.3(KIAA0586):c.3858+16C>T
|
|
|
|
NM_001329943.3(KIAA0586):c.3858+4A>G
|
rs2042748796
|
|
|
NM_001329943.3(KIAA0586):c.3858+7A>G
|
rs771949597
|
|
|
NM_001329943.3(KIAA0586):c.3858+9C>T
|
|
|
|
NM_001329943.3(KIAA0586):c.3859-13A>G
|
|
|
|
NM_001329943.3(KIAA0586):c.3859-16T>A
|
|
|
|
NM_001329943.3(KIAA0586):c.3859-3_3865del
|
|
|
|
NM_001329943.3(KIAA0586):c.3868_3869delinsGT (p.Pro1290Val)
|
|
|
|
NM_001329943.3(KIAA0586):c.3871C>T (p.Pro1291Ser)
|
|
|
|
NM_001329943.3(KIAA0586):c.3883C>G (p.Gln1295Glu)
|
rs2141237535
|
|
|
NM_001329943.3(KIAA0586):c.3885A>G (p.Gln1295=)
|
rs779179754
|
|
|
NM_001329943.3(KIAA0586):c.3886G>A (p.Val1296Met)
|
|
|
|
NM_001329943.3(KIAA0586):c.3896T>C (p.Met1299Thr)
|
|
|
|
NM_001329943.3(KIAA0586):c.38del (p.Lys13fs)
|
rs745949846
|
|
|
NM_001329943.3(KIAA0586):c.38dup (p.Ile14fs)
|
rs745949846
|
|
|
NM_001329943.3(KIAA0586):c.3906A>G (p.Lys1302=)
|
|
|
|
NM_001329943.3(KIAA0586):c.3917C>T (p.Ala1306Val)
|
rs1369311999
|
|
|
NM_001329943.3(KIAA0586):c.3918A>G (p.Ala1306=)
|
|
|
|
NM_001329943.3(KIAA0586):c.3940A>C (p.Lys1314Gln)
|
rs1270703288
|
|
|
NM_001329943.3(KIAA0586):c.3940A>G (p.Lys1314Glu)
|
|
|
|
NM_001329943.3(KIAA0586):c.3966C>T (p.Ser1322=)
|
rs757393939
|
|
|
NM_001329943.3(KIAA0586):c.3968A>G (p.Gln1323Arg)
|
|
|
|
NM_001329943.3(KIAA0586):c.3990+19G>A
|
|
|
|
NM_001329943.3(KIAA0586):c.3990G>A (p.Glu1330=)
|
|
|
|
NM_001329943.3(KIAA0586):c.3991-1G>A
|
|
|
|
NM_001329943.3(KIAA0586):c.3997G>A (p.Glu1333Lys)
|
|
|
|
NM_001329943.3(KIAA0586):c.4001A>G (p.Asn1334Ser)
|
|
|
|
NM_001329943.3(KIAA0586):c.4002C>T (p.Asn1334=)
|
|
|
|
NM_001329943.3(KIAA0586):c.4012G>T (p.Glu1338Ter)
|
|
|
|
NM_001329943.3(KIAA0586):c.4028A>G (p.Gln1343Arg)
|
|
|
|
NM_001329943.3(KIAA0586):c.4033C>A (p.Pro1345Thr)
|
|
|
|
NM_001329943.3(KIAA0586):c.4048G>A (p.Ala1350Thr)
|
|
|
|
NM_001329943.3(KIAA0586):c.4049C>A (p.Ala1350Glu)
|
|
|
|
NM_001329943.3(KIAA0586):c.4054G>A (p.Glu1352Lys)
|
|
|
|
NM_001329943.3(KIAA0586):c.4073A>G (p.His1358Arg)
|
rs1260148388
|
|
|
NM_001329943.3(KIAA0586):c.4077del (p.Leu1360fs)
|
rs762932867
|
|
|
NM_001329943.3(KIAA0586):c.4080_4081del (p.Met1362fs)
|
rs867342730
|
|
|
NM_001329943.3(KIAA0586):c.4089G>C (p.Gln1363His)
|
rs2043350107
|
|
|
NM_001329943.3(KIAA0586):c.4096G>A (p.Val1366Ile)
|
rs2043350903
|
|
|
NM_001329943.3(KIAA0586):c.410+3A>G
|
|
|
|
NM_001329943.3(KIAA0586):c.411-12T>G
|
|
|
|
NM_001329943.3(KIAA0586):c.411-1347C>T
|
|
|
|
NM_001329943.3(KIAA0586):c.411-1348dup
|
|
|
|
NM_001329943.3(KIAA0586):c.411-1349C>T
|
|
|
|
NM_001329943.3(KIAA0586):c.411-1355C>T
|
|
|
|
NM_001329943.3(KIAA0586):c.411-1364A>G
|
|
|
|
NM_001329943.3(KIAA0586):c.411-1371G>A
|
rs2038350104
|
|
|
NM_001329943.3(KIAA0586):c.411-1380G>A
|
|
|
|
NM_001329943.3(KIAA0586):c.411-1381C>T
|
rs749413114
|
|
|
NM_001329943.3(KIAA0586):c.411-1404G>A
|
|
|
|
NM_001329943.3(KIAA0586):c.411-1405T>C
|
|
|
|
NM_001329943.3(KIAA0586):c.411-1409C>T
|
rs2140521828
|
|
|
NM_001329943.3(KIAA0586):c.411-1427A>G
|
|
|
|
NM_001329943.3(KIAA0586):c.411-1431C>G
|
|
|
|
NM_001329943.3(KIAA0586):c.411-1448G>A
|
|
|
|
NM_001329943.3(KIAA0586):c.411-1455_411-1454insGG
|
|
|
|
NM_001329943.3(KIAA0586):c.411-1491G>T
|
rs2140520688
|
|
|
NM_001329943.3(KIAA0586):c.411-1494C>A
|
|
|
|
NM_001329943.3(KIAA0586):c.411-15dup
|
|
|
|
NM_001329943.3(KIAA0586):c.411-4A>G
|
|
|
|
NM_001329943.3(KIAA0586):c.4111T>A (p.Ser1371Thr)
|
|
|
|
NM_001329943.3(KIAA0586):c.4114T>C (p.Leu1372=)
|
|
|
|
NM_001329943.3(KIAA0586):c.4122A>G (p.Gln1374=)
|
|
|
|
NM_001329943.3(KIAA0586):c.4148G>A (p.Arg1383Gln)
|
|
|
|
NM_001329943.3(KIAA0586):c.4156G>T (p.Asp1386Tyr)
|
rs2141310739
|
|
|
NM_001329943.3(KIAA0586):c.4168+13A>G
|
rs375052904
|
|
|
NM_001329943.3(KIAA0586):c.4168+5A>G
|
|
|
|
NM_001329943.3(KIAA0586):c.4168+6C>T
|
|
|
|
NM_001329943.3(KIAA0586):c.4168+8C>A
|
rs1331278032
|
|
|
NM_001329943.3(KIAA0586):c.4205C>A (p.Pro1402Gln)
|
|
|
|
NM_001329943.3(KIAA0586):c.4206A>C (p.Pro1402=)
|
rs369935221
|
|
|
NM_001329943.3(KIAA0586):c.4208_4209del (p.Met1403fs)
|
|
|
|
NM_001329943.3(KIAA0586):c.421A>G (p.Met141Val)
|
rs1164983892
|
|
|
NM_001329943.3(KIAA0586):c.4225del (p.Glu1409fs)
|
rs2141430525
|
|
|
NM_001329943.3(KIAA0586):c.4226A>G (p.Glu1409Gly)
|
rs2141430559
|
|
|
NM_001329943.3(KIAA0586):c.4227G>T (p.Glu1409Asp)
|
rs746899731
|
|
|
NM_001329943.3(KIAA0586):c.4231G>A (p.Glu1411Lys)
|
|
|
|
NM_001329943.3(KIAA0586):c.4241C>T (p.Ser1414Phe)
|
|
|
|
NM_001329943.3(KIAA0586):c.4249G>A (p.Val1417Ile)
|
rs1356513118
|
|
|
NM_001329943.3(KIAA0586):c.4275A>G (p.Ala1425=)
|
|
|
|
NM_001329943.3(KIAA0586):c.4286A>G (p.Asp1429Gly)
|
rs548063080
|
|
|
NM_001329943.3(KIAA0586):c.4305C>G (p.Ala1435=)
|
rs144692893
|
|
|
NM_001329943.3(KIAA0586):c.4305C>T (p.Ala1435=)
|
rs144692893
|
|
|
NM_001329943.3(KIAA0586):c.4306G>A (p.Ala1436Thr)
|
|
|
|
NM_001329943.3(KIAA0586):c.4316T>C (p.Phe1439Ser)
|
rs2141431422
|
|
|
NM_001329943.3(KIAA0586):c.4321C>T (p.Gln1441Ter)
|
|
|
|
NM_001329943.3(KIAA0586):c.4323+12A>G
|
|
|
|
NM_001329943.3(KIAA0586):c.4323+3A>G
|
|
|
|
NM_001329943.3(KIAA0586):c.4323+4C>T
|
rs2044176022
|
|
|
NM_001329943.3(KIAA0586):c.4323+5C>G
|
rs2141431529
|
|
|
NM_001329943.3(KIAA0586):c.4324-11A>T
|
|
|
|
NM_001329943.3(KIAA0586):c.4324-16A>G
|
rs376320678
|
|
|
NM_001329943.3(KIAA0586):c.4324-4T>G
|
rs1429230924
|
|
|
NM_001329943.3(KIAA0586):c.4324-6A>G
|
|
|
|
NM_001329943.3(KIAA0586):c.4329A>G (p.Gln1443=)
|
rs2141479527
|
|
|
NM_001329943.3(KIAA0586):c.4332A>G (p.Leu1444=)
|
rs2141479570
|
|
|
NM_001329943.3(KIAA0586):c.4345G>T (p.Asp1449Tyr)
|
|
|
|
NM_001329943.3(KIAA0586):c.4346A>T (p.Asp1449Val)
|
rs2141479700
|
|
|
NM_001329943.3(KIAA0586):c.4350dup (p.Lys1451Ter)
|
|
|
|
NM_001329943.3(KIAA0586):c.4352A>G (p.Lys1451Arg)
|
|
|
|
NM_001329943.3(KIAA0586):c.4363_4364delinsAT (p.His1455Ile)
|
rs2141479904
|
|
|
NM_001329943.3(KIAA0586):c.4365C>G (p.His1455Gln)
|
rs1051498929
|
|
|
NM_001329943.3(KIAA0586):c.4371A>G (p.Pro1457=)
|
|
|
|
NM_001329943.3(KIAA0586):c.4373C>G (p.Ser1458Ter)
|
|
|
|
NM_001329943.3(KIAA0586):c.4377_4378del (p.Ser1460fs)
|
|
|
|
NM_001329943.3(KIAA0586):c.4386A>G (p.Leu1462=)
|
|
|
|
NM_001329943.3(KIAA0586):c.4392T>A (p.Val1464=)
|
|
|
|
NM_001329943.3(KIAA0586):c.4398T>C (p.Asn1466=)
|
|
|
|
NM_001329943.3(KIAA0586):c.4399A>C (p.Lys1467Gln)
|
|
|
|
NM_001329943.3(KIAA0586):c.4420C>T (p.Gln1474Ter)
|
|
|
|
NM_001329943.3(KIAA0586):c.4429+11T>A
|
|
|
|
NM_001329943.3(KIAA0586):c.4429+16A>G
|
|
|
|
NM_001329943.3(KIAA0586):c.4429+17T>C
|
|
|
|
NM_001329943.3(KIAA0586):c.4429+4A>G
|
rs1017273332
|
|
|
NM_001329943.3(KIAA0586):c.4430-15T>A
|
rs1212572767
|
|
|
NM_001329943.3(KIAA0586):c.4430-15T>C
|
|
|
|
NM_001329943.3(KIAA0586):c.4435C>T (p.Pro1479Ser)
|
|
|
|
NM_001329943.3(KIAA0586):c.4437A>G (p.Pro1479=)
|
rs780867053
|
|
|
NM_001329943.3(KIAA0586):c.4444A>G (p.Met1482Val)
|
|
|
|
NM_001329943.3(KIAA0586):c.4446G>A (p.Met1482Ile)
|
|
|
|
NM_001329943.3(KIAA0586):c.444G>T (p.Lys148Asn)
|
|
|
|
NM_001329943.3(KIAA0586):c.4456C>T (p.Gln1486Ter)
|
rs2140098022
|
|
|
NM_001329943.3(KIAA0586):c.4458A>T (p.Gln1486His)
|
rs2140098041
|
|
|
NM_001329943.3(KIAA0586):c.4472C>T (p.Pro1491Leu)
|
rs370303493
|
|
|
NM_001329943.3(KIAA0586):c.447A>G (p.Val149=)
|
|
|
|
NM_001329943.3(KIAA0586):c.4482A>G (p.Thr1494=)
|
|
|
|
NM_001329943.3(KIAA0586):c.4492T>A (p.Ser1498Thr)
|
|
|
|
NM_001329943.3(KIAA0586):c.4495+12A>G
|
rs2140098467
|
|
|
NM_001329943.3(KIAA0586):c.4495+1_4495+2insAAG
|
|
|
|
NM_001329943.3(KIAA0586):c.4495+3726_4495+3732del
|
|
|
|
NM_001329943.3(KIAA0586):c.4495+3729T>C
|
|
|
|
NM_001329943.3(KIAA0586):c.4495+3730T>G
|
|
|
|
NM_001329943.3(KIAA0586):c.4495+3732T>A
|
|
|
|
NM_001329943.3(KIAA0586):c.4495+3737T>G
|
|
|
|
NM_001329943.3(KIAA0586):c.4495+3755del
|
rs2140128017
|
|
|
NM_001329943.3(KIAA0586):c.4495+3762T>C
|
|
|
|
NM_001329943.3(KIAA0586):c.4495+3767A>T
|
rs2140128191
|
|
|
NM_001329943.3(KIAA0586):c.4495+3779A>G
|
rs968172462
|
|
|
NM_001329943.3(KIAA0586):c.4495+3779A>T
|
rs968172462
|
|
|
NM_001329943.3(KIAA0586):c.4495+3795_4495+3796inv
|
|
|
|
NM_001329943.3(KIAA0586):c.4495+3796G>T
|
|
|
|
NM_001329943.3(KIAA0586):c.4495+3797T>C
|
|
|
|
NM_001329943.3(KIAA0586):c.4495+4A>G
|
|
|
|
NM_001329943.3(KIAA0586):c.4495+6A>G
|
|
|
|
NM_001329943.3(KIAA0586):c.4495+7T>C
|
|
|
|
NM_001329943.3(KIAA0586):c.4496-17G>A
|
|
|
|
NM_001329943.3(KIAA0586):c.4496-3794A>G
|
|
|
|
NM_001329943.3(KIAA0586):c.4496-3799A>G
|
|
|
|
NM_001329943.3(KIAA0586):c.4496-3803T>G
|
|
|
|
NM_001329943.3(KIAA0586):c.4496-3814G>A
|
rs2140128786
|
|
|
NM_001329943.3(KIAA0586):c.4496-3816C>T
|
|
|
|
NM_001329943.3(KIAA0586):c.4496G>T (p.Gly1499Val)
|
|
|
|
NM_001329943.3(KIAA0586):c.4502A>G (p.Lys1501Arg)
|
|
|
|
NM_001329943.3(KIAA0586):c.4505C>T (p.Ala1502Val)
|
rs2140156164
|
|
|
NM_001329943.3(KIAA0586):c.4506A>G (p.Ala1502=)
|
|
|
|
NM_001329943.3(KIAA0586):c.4515C>G (p.Leu1505=)
|
rs2140156234
|
|
|
NM_001329943.3(KIAA0586):c.4517C>T (p.Ser1506Phe)
|
|
|
|
NM_001329943.3(KIAA0586):c.4518C>T (p.Ser1506=)
|
|
|
|
NM_001329943.3(KIAA0586):c.4524A>G (p.Ser1508=)
|
|
|
|
NM_001329943.3(KIAA0586):c.4525C>G (p.Gln1509Glu)
|
|
|
|
NM_001329943.3(KIAA0586):c.4531C>A (p.Pro1511Thr)
|
rs2140156359
|
|
|
NM_001329943.3(KIAA0586):c.4539C>G (p.Ala1513=)
|
|
|
|
NM_001329943.3(KIAA0586):c.4562C>T (p.Ser1521Leu)
|
|
|
|
NM_001329943.3(KIAA0586):c.4564G>C (p.Val1522Leu)
|
|
|
|
NM_001329943.3(KIAA0586):c.4564G>T (p.Val1522Leu)
|
rs542432352
|
|
|
NM_001329943.3(KIAA0586):c.456A>G (p.Leu152=)
|
|
|
|
NM_001329943.3(KIAA0586):c.4575_4576delinsAC (p.Asp1526His)
|
rs2140156856
|
|
|
NM_001329943.3(KIAA0586):c.4585C>T (p.Gln1529Ter)
|
|
|
|
NM_001329943.3(KIAA0586):c.4590T>G (p.Ser1530=)
|
rs2140157005
|
|
|
NM_001329943.3(KIAA0586):c.4595G>A (p.Ser1532Asn)
|
rs2047081237
|
|
|
NM_001329943.3(KIAA0586):c.4596T>C (p.Ser1532=)
|
|
|
|
NM_001329943.3(KIAA0586):c.4616A>G (p.Asp1539Gly)
|
|
|
|
NM_001329943.3(KIAA0586):c.4641C>T (p.Thr1547=)
|
rs1301341396
|
|
|
NM_001329943.3(KIAA0586):c.4641del (p.Phe1548fs)
|
|
|
|
NM_001329943.3(KIAA0586):c.4644C>G (p.Phe1548Leu)
|
|
|
|
NM_001329943.3(KIAA0586):c.465del (p.Gly156fs)
|
|
|
|
NM_001329943.3(KIAA0586):c.468C>G (p.Gly156=)
|
|
|
|
NM_001329943.3(KIAA0586):c.479A>G (p.Asp160Gly)
|
|
|
|
NM_001329943.3(KIAA0586):c.480T>A (p.Asp160Glu)
|
rs1202184988
|
|
|
NM_001329943.3(KIAA0586):c.492G>A (p.Gln164=)
|
|
|
|
NM_001329943.3(KIAA0586):c.502A>G (p.Ile168Val)
|
|
|
|
NM_001329943.3(KIAA0586):c.508C>T (p.Pro170Ser)
|
|
|
|
NM_001329943.3(KIAA0586):c.524C>T (p.Ser175Leu)
|
|
|
|
NM_001329943.3(KIAA0586):c.567C>T (p.Thr189=)
|
|
|
|
NM_001329943.3(KIAA0586):c.575C>T (p.Pro192Leu)
|
rs748340175
|
|
|
NM_001329943.3(KIAA0586):c.576G>T (p.Pro192=)
|
|
|
|
NM_001329943.3(KIAA0586):c.585+10_585+11insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGTATATTTTT
|
|
|
|
NM_001329943.3(KIAA0586):c.585+17_585+29del
|
|
|
|
NM_001329943.3(KIAA0586):c.586-16G>T
|
|
|
|
NM_001329943.3(KIAA0586):c.586-17T>C
|
|
|
|
NM_001329943.3(KIAA0586):c.586-4T>G
|
|
|
|
NM_001329943.3(KIAA0586):c.586G>T (p.Val196Leu)
|
|
|
|
NM_001329943.3(KIAA0586):c.602A>G (p.Glu201Gly)
|
rs2038635110
|
|
|
NM_001329943.3(KIAA0586):c.605C>T (p.Ala202Val)
|
|
|
|
NM_001329943.3(KIAA0586):c.622dup (p.Thr208fs)
|
rs2140565674
|
|
|
NM_001329943.3(KIAA0586):c.625G>C (p.Glu209Gln)
|
|
|
|
NM_001329943.3(KIAA0586):c.62T>A (p.Leu21His)
|
|
|
|
NM_001329943.3(KIAA0586):c.636T>C (p.Ser212=)
|
|
|
|
NM_001329943.3(KIAA0586):c.63_64delinsAA (p.Arg22Ser)
|
rs2140373651
|
|
|
NM_001329943.3(KIAA0586):c.642A>G (p.Leu214=)
|
|
|
|
NM_001329943.3(KIAA0586):c.64C>T (p.Arg22Cys)
|
rs202124602
|
|
|
NM_001329943.3(KIAA0586):c.653_663del (p.Asp218fs)
|
|
|
|
NM_001329943.3(KIAA0586):c.655A>G (p.Lys219Glu)
|
rs1373940232
|
|
|
NM_001329943.3(KIAA0586):c.658C>T (p.His220Tyr)
|
|
|
|
NM_001329943.3(KIAA0586):c.65G>C (p.Arg22Pro)
|
|
|
|
NM_001329943.3(KIAA0586):c.666A>G (p.Gln222=)
|
|
|
|
NM_001329943.3(KIAA0586):c.701A>G (p.Lys234Arg)
|
|
|
|
NM_001329943.3(KIAA0586):c.729C>G (p.His243Gln)
|
rs774888789
|
|
|
NM_001329943.3(KIAA0586):c.729C>T (p.His243=)
|
rs774888789
|
|
|
NM_001329943.3(KIAA0586):c.730G>T (p.Glu244Ter)
|
rs376338487
|
|
|
NM_001329943.3(KIAA0586):c.745G>A (p.Val249Met)
|
rs2140567428
|
|
|
NM_001329943.3(KIAA0586):c.750T>A (p.Phe250Leu)
|
rs577258273
|
|
|
NM_001329943.3(KIAA0586):c.768G>T (p.Arg256Ser)
|
|
|
|
NM_001329943.3(KIAA0586):c.784CAA[3] (p.Gln265del)
|
rs1290912165
|
|
|
NM_001329943.3(KIAA0586):c.786A>G (p.Gln262=)
|
rs1487078229
|
|
|
NM_001329943.3(KIAA0586):c.789dup (p.Gln264fs)
|
rs1203751352
|
|
|
NM_001329943.3(KIAA0586):c.792A>T (p.Gln264His)
|
rs2140568101
|
|
|
NM_001329943.3(KIAA0586):c.807+10A>C
|
rs368833496
|
|
|
NM_001329943.3(KIAA0586):c.807+12A>G
|
|
|
|
NM_001329943.3(KIAA0586):c.807+19G>C
|
|
|
|
NM_001329943.3(KIAA0586):c.807+1G>T
|
|
|
|
NM_001329943.3(KIAA0586):c.807+8del
|
rs2140568510
|
|
|
NM_001329943.3(KIAA0586):c.807+9A>G
|
rs2140568561
|
|
|
NM_001329943.3(KIAA0586):c.808-13T>G
|
rs1364907790
|
|
|
NM_001329943.3(KIAA0586):c.808-20A>C
|
|
|
|
NM_001329943.3(KIAA0586):c.811C>A (p.His271Asn)
|
|
|
|
NM_001329943.3(KIAA0586):c.811C>T (p.His271Tyr)
|
rs1417240682
|
|
|
NM_001329943.3(KIAA0586):c.815T>G (p.Phe272Cys)
|
rs2039078597
|
|
|
NM_001329943.3(KIAA0586):c.82A>C (p.Asn28His)
|
|
|
|
NM_001329943.3(KIAA0586):c.831C>G (p.Leu277=)
|
|
|
|
NM_001329943.3(KIAA0586):c.832A>G (p.Lys278Glu)
|
rs769369839
|
|
|
NM_001329943.3(KIAA0586):c.835A>C (p.Thr279Pro)
|
|
|
|
NM_001329943.3(KIAA0586):c.839G>C (p.Ser280Thr)
|
rs2039080763
|
|
|
NM_001329943.3(KIAA0586):c.852T>C (p.Pro284=)
|
rs2140662420
|
|
|
NM_001329943.3(KIAA0586):c.853G>C (p.Val285Leu)
|
|
|
|
NM_001329943.3(KIAA0586):c.857G>A (p.Ser286Asn)
|
|
|
|
NM_001329943.3(KIAA0586):c.859A>C (p.Met287Leu)
|
rs2140662489
|
|
|
NM_001329943.3(KIAA0586):c.85C>T (p.His29Tyr)
|
|
|
|
NM_001329943.3(KIAA0586):c.869C>G (p.Ser290Cys)
|
|
|
|
NM_001329943.3(KIAA0586):c.86A>G (p.His29Arg)
|
|
|
|
NM_001329943.3(KIAA0586):c.891C>A (p.Ser297=)
|
|
|
|
NM_001329943.3(KIAA0586):c.913C>T (p.Leu305Phe)
|
|
|
|
NM_001329943.3(KIAA0586):c.919A>G (p.Ser307Gly)
|
rs2140663692
|
|
|
NM_001329943.3(KIAA0586):c.930A>G (p.Pro310=)
|
|
|
|
NM_001329943.3(KIAA0586):c.938del (p.Tyr313fs)
|
rs2140664007
|
|
|
NM_001329943.3(KIAA0586):c.939dup (p.Asn314Ter)
|
|
|
|
NM_001329943.3(KIAA0586):c.942C>T (p.Asn314=)
|
|
|
|
NM_001329943.3(KIAA0586):c.953C>T (p.Ser318Phe)
|
rs2140664162
|
|
|
NM_001329943.3(KIAA0586):c.961+11G>T
|
|
|
|
NM_001329943.3(KIAA0586):c.961+1G>A
|
|
|
|
NM_001329943.3(KIAA0586):c.961+6_961+7del
|
rs1308763926
|
|
|
NM_001329943.3(KIAA0586):c.962-10dup
|
rs1431902070
|
|
|
NM_001329943.3(KIAA0586):c.962-14A>C
|
rs200528557
|
|
|
NM_001329943.3(KIAA0586):c.962-19A>T
|
|
|
|
NM_001329943.3(KIAA0586):c.962-3A>C
|
|
|
|
NM_001329943.3(KIAA0586):c.975A>G (p.Glu325=)
|
|
|
|
NM_001329943.3(KIAA0586):c.976G>A (p.Val326Ile)
|
rs1317366636
|
|
|
NM_001329943.3(KIAA0586):c.983A>T (p.Asp328Val)
|
rs780810159
|
|
|
NM_001347702.2(SYNE1):c.1444G>A (p.Val482Ile)
|
rs1389837024
|
|
|
NM_001347702.2(SYNE1):c.1452C>A (p.Ile484=)
|
|
|
|
NM_001347702.2(SYNE1):c.1456G>A (p.Glu486Lys)
|
|
|
|
NM_001347702.2(SYNE1):c.1473T>G (p.Tyr491Ter)
|
|
|
|
NM_001347702.2(SYNE1):c.1492G>T (p.Ala498Ser)
|
|
|
|
NM_001347702.2(SYNE1):c.1510G>A (p.Gly504Arg)
|
rs746655221
|
|
|
NM_001378969.1(KCND3):c.1017G>A (p.Met339Ile)
|
rs965641511
|
|
|
NM_001378969.1(KCND3):c.1026C>G (p.Ala342=)
|
rs1216276887
|
|
|
NM_001378969.1(KCND3):c.1040C>T (p.Ser347Leu)
|
|
|
|
NM_001378969.1(KCND3):c.1041G>A (p.Ser347=)
|
rs369361457
|
|
|
NM_001378969.1(KCND3):c.1050G>A (p.Lys350=)
|
|
|
|
NM_001378969.1(KCND3):c.1053C>T (p.Phe351=)
|
|
|
|
NM_001378969.1(KCND3):c.1062C>T (p.Ile354=)
|
|
|
|
NM_001378969.1(KCND3):c.1065T>A (p.Pro355=)
|
rs1467256846
|
|
|
NM_001378969.1(KCND3):c.1070C>G (p.Ser357Trp)
|
rs867628133
|
|
|
NM_001378969.1(KCND3):c.1098C>A (p.Thr366=)
|
|
|
|
NM_001378969.1(KCND3):c.1106+11G>A
|
|
|
|
NM_001378969.1(KCND3):c.1106+11G>T
|
rs1437557964
|
|
|
NM_001378969.1(KCND3):c.1106+15G>A
|
|
|
|
NM_001378969.1(KCND3):c.1107-21_1107-20del
|
|
|
|
NM_001378969.1(KCND3):c.1107-47915C>T
|
rs1318670
|
|
|
NM_001378969.1(KCND3):c.110G>C (p.Arg37Pro)
|
rs1675021542
|
|
|
NM_001378969.1(KCND3):c.1130C>T (p.Thr377Met)
|
rs1571636501
|
|
|
NM_001378969.1(KCND3):c.1131G>A (p.Thr377=)
|
|
|
|
NM_001378969.1(KCND3):c.1158C>T (p.Ile386=)
|
|
|
|
NM_001378969.1(KCND3):c.1167G>A (p.Leu389=)
|
rs1571636426
|
|
|
NM_001378969.1(KCND3):c.1173C>A (p.Gly391=)
|
rs533201615
|
|
|
NM_001378969.1(KCND3):c.1174G>A (p.Val392Ile)
|
rs786205867
|
|
|
NM_001378969.1(KCND3):c.1194A>G (p.Pro398=)
|
|
|
|
NM_001378969.1(KCND3):c.1197C>T (p.Val399=)
|
|
|
|
NM_001378969.1(KCND3):c.1269+14G>A
|
rs369047161
|
|
|
NM_001378969.1(KCND3):c.1269+6C>T
|
rs1060502174
|
|
|
NM_001378969.1(KCND3):c.1270-20dup
|
|
|
|
NM_001378969.1(KCND3):c.1270-6T>C
|
rs1195309269
|
|
|
NM_001378969.1(KCND3):c.1292G>C (p.Arg431Pro)
|
|
|
|
NM_001378969.1(KCND3):c.1292G>T (p.Arg431Leu)
|
rs771703569
|
|
|
NM_001378969.1(KCND3):c.1305A>T (p.Thr435=)
|
|
|
|
NM_001378969.1(KCND3):c.1324C>T (p.Leu442=)
|
|
|
|
NM_001378969.1(KCND3):c.1329C>T (p.His443=)
|
|
|
|
NM_001378969.1(KCND3):c.1336C>T (p.Arg446Cys)
|
rs756087542
|
|
|
NM_001378969.1(KCND3):c.1339A>G (p.Asn447Asp)
|
rs1571626928
|
|
|
NM_001378969.1(KCND3):c.1345C>T (p.Leu449Phe)
|
|
|
|
NM_001378969.1(KCND3):c.1351A>C (p.Asn451His)
|
|
|
|
NM_001378969.1(KCND3):c.1352A>G (p.Asn451Ser)
|
|
|
|
NM_001378969.1(KCND3):c.1369A>G (p.Thr457Ala)
|
|
|
|
NM_001378969.1(KCND3):c.1371+19T>G
|
|
|
|
NM_001378969.1(KCND3):c.1371+4G>C
|
|
|
|
NM_001378969.1(KCND3):c.1371+5G>T
|
rs1178012198
|
|
|
NM_001378969.1(KCND3):c.1372-14T>C
|
|
|
|
NM_001378969.1(KCND3):c.1372-17T>C
|
|
|
|
NM_001378969.1(KCND3):c.1372-4C>T
|
|
|
|
NM_001378969.1(KCND3):c.1372-6T>G
|
|
|
|
NM_001378969.1(KCND3):c.1372-6dup
|
rs769051410
|
|
|
NM_001378969.1(KCND3):c.1372G>A (p.Gly458Ser)
|
|
|
|
NM_001378969.1(KCND3):c.1384G>A (p.Glu462Lys)
|
|
|
|
NM_001378969.1(KCND3):c.1387G>A (p.Glu463Lys)
|
rs1571626257
|
|
|
NM_001378969.1(KCND3):c.1406C>T (p.Thr469Ile)
|
|
|
|
NM_001378969.1(KCND3):c.1413C>A (p.Leu471=)
|
|
|
|
NM_001378969.1(KCND3):c.1418A>T (p.Glu473Val)
|
rs2101469294
|
|
|
NM_001378969.1(KCND3):c.1434C>T (p.His478=)
|
|
|
|
NM_001378969.1(KCND3):c.1441C>A (p.His481Asn)
|
|
|
|
NM_001378969.1(KCND3):c.1461+7C>A
|
|
|
|
NM_001378969.1(KCND3):c.1461+9C>T
|
|
|
|
NM_001378969.1(KCND3):c.1462-10T>G
|
rs2101462550
|
|
|
NM_001378969.1(KCND3):c.1462-16G>T
|
|
|
|
NM_001378969.1(KCND3):c.1462-4G>A
|
|
|
|
NM_001378969.1(KCND3):c.1496C>G (p.Ser499Cys)
|
rs976664434
|
|
|
NM_001378969.1(KCND3):c.1518+12del
|
|
|
|
NM_001378969.1(KCND3):c.1518+17A>C
|
|
|
|
NM_001378969.1(KCND3):c.1518+4T>C
|
rs1553235925
|
|
|
NM_001378969.1(KCND3):c.1519-10C>T
|
rs1664168851
|
|
|
NM_001378969.1(KCND3):c.1519-17_1519-15del
|
|
|
|
NM_001378969.1(KCND3):c.1519-20_1519-18del
|
rs775978779
|
|
|
NM_001378969.1(KCND3):c.1535A>C (p.Asp512Ala)
|
rs1664166577
|
|
|
NM_001378969.1(KCND3):c.1536T>C (p.Asp512=)
|
|
|
|
NM_001378969.1(KCND3):c.1544T>C (p.Met515Thr)
|
|
|
|
NM_001378969.1(KCND3):c.1560C>T (p.Cys520=)
|
|
|
|
NM_001378969.1(KCND3):c.1564G>A (p.Glu522Lys)
|
|
|
|
NM_001378969.1(KCND3):c.1574T>G (p.Met525Arg)
|
rs1338355211
|
|
|
NM_001378969.1(KCND3):c.1587A>G (p.Pro529=)
|
|
|
|
NM_001378969.1(KCND3):c.159C>T (p.Thr53=)
|
|
|
|
NM_001378969.1(KCND3):c.1600C>A (p.Pro534Thr)
|
rs1447493103
|
|
|
NM_001378969.1(KCND3):c.1601C>T (p.Pro534Leu)
|
rs1553235768
|
|
|
NM_001378969.1(KCND3):c.1641C>T (p.Cys547=)
|
|
|
|
NM_001378969.1(KCND3):c.1672C>T (p.Pro558Ser)
|
rs2101456436
|
|
|
NM_001378969.1(KCND3):c.1683C>T (p.Asn561=)
|
|
|
|
NM_001378969.1(KCND3):c.1692T>G (p.Ala564=)
|
|
|
|
NM_001378969.1(KCND3):c.1696C>T (p.Arg566Cys)
|
|
|
|
NM_001378969.1(KCND3):c.1701G>A (p.Leu567=)
|
|
|
|
NM_001378969.1(KCND3):c.1709T>C (p.Met570Thr)
|
rs1553235743
|
|
|
NM_001378969.1(KCND3):c.1715A>T (p.Glu572Val)
|
|
|
|
NM_001378969.1(KCND3):c.1725G>A (p.Thr575=)
|
|
|
|
NM_001378969.1(KCND3):c.1740C>A (p.Gly580=)
|
|
|
|
NM_001378969.1(KCND3):c.1741A>T (p.Ser581Cys)
|
rs1420542041
|
|
|
NM_001378969.1(KCND3):c.1743T>C (p.Ser581=)
|
|
|
|
NM_001378969.1(KCND3):c.1745A>G (p.Glu582Gly)
|
rs2101456005
|
|
|
NM_001378969.1(KCND3):c.1754C>T (p.Ser585Phe)
|
|
|
|
NM_001378969.1(KCND3):c.1756C>G (p.Leu586Val)
|
rs778053688
|
|
|
NM_001378969.1(KCND3):c.1767-17A>C
|
|
|
|
NM_001378969.1(KCND3):c.1767-4C>G
|
|
|
|
NM_001378969.1(KCND3):c.1772C>G (p.Ser591Cys)
|
rs903701604
|
|
|
NM_001378969.1(KCND3):c.1784T>G (p.Leu595Trp)
|
rs1483036958
|
|
|
NM_001378969.1(KCND3):c.1803G>A (p.Leu601=)
|
|
|
|
NM_001378969.1(KCND3):c.1829T>C (p.Ile610Thr)
|
|
|
|
NM_001378969.1(KCND3):c.1856C>T (p.Thr619Ile)
|
|
|
|
NM_001378969.1(KCND3):c.1865C>A (p.Ala622Glu)
|
|
|
|
NM_001378969.1(KCND3):c.1866G>A (p.Ala622=)
|
|
|
|
NM_001378969.1(KCND3):c.186G>C (p.Pro62=)
|
|
|
|
NM_001378969.1(KCND3):c.1873C>T (p.Pro625Ser)
|
rs2101452061
|
|
|
NM_001378969.1(KCND3):c.1885A>T (p.Ser629Cys)
|
rs1435444967
|
|
|
NM_001378969.1(KCND3):c.1895C>T (p.Pro632Leu)
|
rs1261735013
|
|
|
NM_001378969.1(KCND3):c.18G>A (p.Ala6=)
|
|
|
|
NM_001378969.1(KCND3):c.1919C>T (p.Thr640Met)
|
|
|
|
NM_001378969.1(KCND3):c.1920G>A (p.Thr640=)
|
|
|
|
NM_001378969.1(KCND3):c.1924A>T (p.Ile642Phe)
|
rs754759010
|
|
|
NM_001378969.1(KCND3):c.1934T>C (p.Ile645Thr)
|
rs1557929628
|
|
|
NM_001378969.1(KCND3):c.1950C>A (p.Val650=)
|
|
|
|
NM_001378969.1(KCND3):c.218T>A (p.Phe73Tyr)
|
|
|
|
NM_001378969.1(KCND3):c.256C>G (p.Arg86Gly)
|
rs754042199
|
|
|
NM_001378969.1(KCND3):c.36C>T (p.Ala12=)
|
rs2102000445
|
|
|
NM_001378969.1(KCND3):c.386G>C (p.Gly129Ala)
|
rs1675001550
|
|
|
NM_001378969.1(KCND3):c.436C>T (p.Arg146Trp)
|
rs575658111
|
|
|
NM_001378969.1(KCND3):c.446A>G (p.Asp149Gly)
|
rs1217571134
|
|
|
NM_001378969.1(KCND3):c.447C>T (p.Asp149=)
|
rs1553187519
|
|
|
NM_001378969.1(KCND3):c.448G>A (p.Asp150Asn)
|
rs1488410733
|
|
|
NM_001378969.1(KCND3):c.478A>G (p.Met160Val)
|
rs901416743
|
|
|
NM_001378969.1(KCND3):c.486G>A (p.Ser162=)
|
|
|
|
NM_001378969.1(KCND3):c.492C>T (p.Ser164=)
|
rs1170371506
|
|
|
NM_001378969.1(KCND3):c.509G>T (p.Trp170Leu)
|
|
|
|
NM_001378969.1(KCND3):c.520G>C (p.Glu174Gln)
|
|
|
|
NM_001378969.1(KCND3):c.522G>A (p.Glu174=)
|
rs2101997545
|
|
|
NM_001378969.1(KCND3):c.551T>C (p.Val184Ala)
|
rs2101997398
|
|
|
NM_001378969.1(KCND3):c.561C>T (p.Tyr187=)
|
|
|
|
NM_001378969.1(KCND3):c.566C>G (p.Thr189Ser)
|
|
|
|
NM_001378969.1(KCND3):c.600C>T (p.Asn200=)
|
rs1674984825
|
|
|
NM_001378969.1(KCND3):c.633G>A (p.Pro211=)
|
rs35131566
|
|
|
NM_001378969.1(KCND3):c.633G>T (p.Pro211=)
|
rs35131566
|
|
|
NM_001378969.1(KCND3):c.660G>A (p.Glu220=)
|
rs2101996879
|
|
|
NM_001378969.1(KCND3):c.663C>T (p.Arg221=)
|
|
|
|
NM_001378969.1(KCND3):c.668C>T (p.Ser223Leu)
|
|
|
|
NM_001378969.1(KCND3):c.685C>G (p.Leu229Val)
|
|
|
|
NM_001378969.1(KCND3):c.693G>A (p.Thr231=)
|
|
|
|
NM_001378969.1(KCND3):c.714C>A (p.Thr238=)
|
|
|
|
NM_001378969.1(KCND3):c.715G>C (p.Val239Leu)
|
rs2101996463
|
|
|
NM_001378969.1(KCND3):c.739G>T (p.Ala247Ser)
|
|
|
|
NM_001378969.1(KCND3):c.82C>A (p.Pro28Thr)
|
rs1675024873
|
|
|
NM_001378969.1(KCND3):c.84C>T (p.Pro28=)
|
|
|
|
NM_001378969.1(KCND3):c.878G>A (p.Arg293His)
|
rs1674965278
|
|
|
NM_001378969.1(KCND3):c.87G>A (p.Leu29=)
|
|
|
|
NM_001378969.1(KCND3):c.917G>A (p.Gly306Asp)
|
rs2101995501
|
|
|
NM_001378969.1(KCND3):c.91C>T (p.Pro31Ser)
|
rs1403997481
|
|
|
NM_001378969.1(KCND3):c.930G>A (p.Leu310=)
|
rs577883061
|
|
|
NM_001378969.1(KCND3):c.957C>T (p.Ser319=)
|
rs61733426
|
|
|
NM_001378969.1(KCND3):c.969T>C (p.Phe323=)
|
rs757012715
|
|
|
NM_001382391.1(CSPP1):c.*3_*6dup (p.Ter1227=)
|
rs764952763
|
|
|
NM_001382391.1(CSPP1):c.-10-13T>A
|
|
|
|
NM_001382391.1(CSPP1):c.-10-1G>T
|
|
|
|
NM_001382391.1(CSPP1):c.-10-20A>G
|
|
|
|
NM_001382391.1(CSPP1):c.-10-5T>A
|
rs770289522
|
|
|
NM_001382391.1(CSPP1):c.-10-5del
|
|
|
|
NM_001382391.1(CSPP1):c.-10-5dup
|
rs536000854
|
|
|
NM_001382391.1(CSPP1):c.-103C>T
|
rs202181896
|
|
|
NM_001382391.1(CSPP1):c.-104A>G
|
|
|
|
NM_001382391.1(CSPP1):c.-104A>T
|
rs1805077545
|
|
|
NM_001382391.1(CSPP1):c.-106C>T
|
rs2129538421
|
|
|
NM_001382391.1(CSPP1):c.-108C>T
|
rs2129538420
|
|
|
NM_001382391.1(CSPP1):c.-121A>C
|
|
|
|
NM_001382391.1(CSPP1):c.-125C>A
|
|
|
|
NM_001382391.1(CSPP1):c.-128C>T
|
rs775895663
|
|
|
NM_001382391.1(CSPP1):c.-138C>A
|
rs373705126
|
|
|
NM_001382391.1(CSPP1):c.-138C>T
|
|
|
|
NM_001382391.1(CSPP1):c.-139G>C
|
|
|
|
NM_001382391.1(CSPP1):c.-142C>A
|
rs1023702149
|
|
|
NM_001382391.1(CSPP1):c.-143T>A
|
rs1164437313
|
|
|
NM_001382391.1(CSPP1):c.-147C>G
|
|
|
|
NM_001382391.1(CSPP1):c.-149T>A
|
rs768356971
|
|
|
NM_001382391.1(CSPP1):c.-149T>G
|
|
|
|
NM_001382391.1(CSPP1):c.-150A>T
|
|
|
|
NM_001382391.1(CSPP1):c.-36C>T
|
|
|
|
NM_001382391.1(CSPP1):c.-43A>C
|
|
|
|
NM_001382391.1(CSPP1):c.-45_-42del
|
rs762530713
|
|
|
NM_001382391.1(CSPP1):c.-47A>G
|
|
|
|
NM_001382391.1(CSPP1):c.-54_-51del
|
|
|
|
NM_001382391.1(CSPP1):c.-56del
|
|
|
|
NM_001382391.1(CSPP1):c.-57C>G
|
|
|
|
NM_001382391.1(CSPP1):c.-66G>A
|
rs2129538438
|
|
|
NM_001382391.1(CSPP1):c.-68G>A
|
rs2129538437
|
|
|
NM_001382391.1(CSPP1):c.-68G>C
|
|
|
|
NM_001382391.1(CSPP1):c.-69C>T
|
rs1294428066
|
|
|
NM_001382391.1(CSPP1):c.-73G>C
|
|
|
|
NM_001382391.1(CSPP1):c.-74G>A
|
|
|
|
NM_001382391.1(CSPP1):c.-80C>G
|
rs745897839
|
|
|
NM_001382391.1(CSPP1):c.-85T>C
|
rs2129538434
|
|
|
NM_001382391.1(CSPP1):c.-90C>T
|
|
|
|
NM_001382391.1(CSPP1):c.-91G>A
|
rs200332502
|
|
|
NM_001382391.1(CSPP1):c.-94A>G
|
rs1382795214
|
|
|
NM_001382391.1(CSPP1):c.-96C>G
|
rs751458139
|
|
|
NM_001382391.1(CSPP1):c.100-11G>A
|
|
|
|
NM_001382391.1(CSPP1):c.100-12T>C
|
|
|
|
NM_001382391.1(CSPP1):c.100-2A>C
|
|
|
|
NM_001382391.1(CSPP1):c.1022+1G>C
|
|
|
|
NM_001382391.1(CSPP1):c.1022+1G>T
|
rs2129547115
|
|
|
NM_001382391.1(CSPP1):c.1022G>A (p.Ser341Asn)
|
|
|
|
NM_001382391.1(CSPP1):c.1023-14C>T
|
|
|
|
NM_001382391.1(CSPP1):c.1023-16G>A
|
|
|
|
NM_001382391.1(CSPP1):c.1023-16_1023-13del
|
|
|
|
NM_001382391.1(CSPP1):c.1023-3T>C
|
|
|
|
NM_001382391.1(CSPP1):c.1023-4T>G
|
|
|
|
NM_001382391.1(CSPP1):c.1023-7dup
|
rs781187284
|
|
|
NM_001382391.1(CSPP1):c.1023-9T>A
|
|
|
|
NM_001382391.1(CSPP1):c.1024G>T (p.Ala342Ser)
|
|
|
|
NM_001382391.1(CSPP1):c.1027C>T (p.Pro343Ser)
|
|
|
|
NM_001382391.1(CSPP1):c.1029A>T (p.Pro343=)
|
|
|
|
NM_001382391.1(CSPP1):c.1030G>T (p.Asp344Tyr)
|
rs2129547771
|
|
|
NM_001382391.1(CSPP1):c.1045A>G (p.Lys349Glu)
|
|
|
|
NM_001382391.1(CSPP1):c.1051G>A (p.Ala351Thr)
|
|
|
|
NM_001382391.1(CSPP1):c.1056T>A (p.Asn352Lys)
|
rs1815423493
|
|
|
NM_001382391.1(CSPP1):c.1066T>C (p.Cys356Arg)
|
|
|
|
NM_001382391.1(CSPP1):c.106T>C (p.Leu36=)
|
|
|
|
NM_001382391.1(CSPP1):c.1078G>T (p.Ala360Ser)
|
|
|
|
NM_001382391.1(CSPP1):c.1083del (p.Met362fs)
|
|
|
|
NM_001382391.1(CSPP1):c.108G>T (p.Leu36Phe)
|
rs1807945498
|
|
|
NM_001382391.1(CSPP1):c.1093+16C>A
|
|
|
|
NM_001382391.1(CSPP1):c.1093+16C>G
|
|
|
|
NM_001382391.1(CSPP1):c.1093+17del
|
rs2129547787
|
|
|
NM_001382391.1(CSPP1):c.1093+3A>G
|
rs1815432822
|
|
|
NM_001382391.1(CSPP1):c.1094-6A>G
|
|
|
|
NM_001382391.1(CSPP1):c.1100A>G (p.Glu367Gly)
|
rs2129549763
|
|
|
NM_001382391.1(CSPP1):c.1101A>G (p.Glu367=)
|
rs768714635
|
|
|
NM_001382391.1(CSPP1):c.1102G>A (p.Asp368Asn)
|
|
|
|
NM_001382391.1(CSPP1):c.1105C>T (p.Arg369Ter)
|
rs374703898
|
|
|
NM_001382391.1(CSPP1):c.1111C>T (p.Leu371Phe)
|
|
|
|
NM_001382391.1(CSPP1):c.1124G>A (p.Arg375Lys)
|
rs748162424
|
|
|
NM_001382391.1(CSPP1):c.1131G>A (p.Glu377=)
|
|
|
|
NM_001382391.1(CSPP1):c.1138A>G (p.Arg380Gly)
|
rs1816951976
|
|
|
NM_001382391.1(CSPP1):c.114G>A (p.Ala38=)
|
rs566786304
|
|
|
NM_001382391.1(CSPP1):c.1153G>T (p.Glu385Ter)
|
rs886044058
|
|
|
NM_001382391.1(CSPP1):c.1172A>G (p.Gln391Arg)
|
|
|
|
NM_001382391.1(CSPP1):c.1187+19T>A
|
|
|
|
NM_001382391.1(CSPP1):c.1187+7A>G
|
|
|
|
NM_001382391.1(CSPP1):c.1187G>A (p.Arg396Gln)
|
rs760205035
|
|
|
NM_001382391.1(CSPP1):c.1187G>C (p.Arg396Pro)
|
rs760205035
|
|
|
NM_001382391.1(CSPP1):c.1188-15T>G
|
|
|
|
NM_001382391.1(CSPP1):c.1188-20A>C
|
|
|
|
NM_001382391.1(CSPP1):c.1188-2A>G
|
|
|
|
NM_001382391.1(CSPP1):c.1188-3T>C
|
|
|
|
NM_001382391.1(CSPP1):c.1188-5T>A
|
|
|
|
NM_001382391.1(CSPP1):c.1196A>G (p.Asp399Gly)
|
|
|
|
NM_001382391.1(CSPP1):c.1198T>G (p.Leu400Val)
|
rs2129550393
|
|
|
NM_001382391.1(CSPP1):c.1209G>C (p.Arg403Ser)
|
|
|
|
NM_001382391.1(CSPP1):c.1209G>T (p.Arg403Ser)
|
rs370123119
|
|
|
NM_001382391.1(CSPP1):c.1210G>T (p.Val404Phe)
|
|
|
|
NM_001382391.1(CSPP1):c.1218G>A (p.Ala406=)
|
|
|
|
NM_001382391.1(CSPP1):c.1234C>T (p.Pro412Ser)
|
rs201880658
|
|
|
NM_001382391.1(CSPP1):c.123T>G (p.Ser41=)
|
rs775044108
|
|
|
NM_001382391.1(CSPP1):c.1245+14del
|
rs760948267
|
|
|
NM_001382391.1(CSPP1):c.1245+22_1245+36del
|
rs754206451
|
|
|
NM_001382391.1(CSPP1):c.1245+7G>A
|
|
|
|
NM_001382391.1(CSPP1):c.1245G>T (p.Ser415=)
|
|
|
|
NM_001382391.1(CSPP1):c.126A>G (p.Glu42=)
|
rs1283210787
|
|
|
NM_001382391.1(CSPP1):c.1288-11_1288-8del
|
|
|
|
NM_001382391.1(CSPP1):c.1288-12T>C
|
|
|
|
NM_001382391.1(CSPP1):c.1288-12del
|
|
|
|
NM_001382391.1(CSPP1):c.1288-12dup
|
rs759923250
|
|
|
NM_001382391.1(CSPP1):c.1291G>A (p.Asp431Asn)
|
|
|
|
NM_001382391.1(CSPP1):c.1298T>G (p.Leu433Arg)
|
|
|
|
NM_001382391.1(CSPP1):c.1313T>C (p.Val438Ala)
|
rs2129550845
|
|
|
NM_001382391.1(CSPP1):c.1317A>C (p.Ala439=)
|
|
|
|
NM_001382391.1(CSPP1):c.1320A>G (p.Pro440=)
|
rs1817847996
|
|
|
NM_001382391.1(CSPP1):c.1336A>G (p.Met446Val)
|
rs2129550849
|
|
|
NM_001382391.1(CSPP1):c.1342C>T (p.Pro448Ser)
|
rs2129550850
|
|
|
NM_001382391.1(CSPP1):c.1359A>G (p.Arg453=)
|
|
|
|
NM_001382391.1(CSPP1):c.1384C>T (p.Pro462Ser)
|
|
|
|
NM_001382391.1(CSPP1):c.1395C>A (p.Ala465=)
|
|
|
|
NM_001382391.1(CSPP1):c.1399T>C (p.Ser467Pro)
|
rs747312980
|
|
|
NM_001382391.1(CSPP1):c.1402G>C (p.Val468Leu)
|
rs376880257
|
|
|
NM_001382391.1(CSPP1):c.1406C>T (p.Pro469Leu)
|
|
|
|
NM_001382391.1(CSPP1):c.140dup (p.Ile48fs)
|
|
|
|
NM_001382391.1(CSPP1):c.1410C>T (p.Pro470=)
|
|
|
|
NM_001382391.1(CSPP1):c.1424A>G (p.His475Arg)
|
rs2129550870
|
|
|
NM_001382391.1(CSPP1):c.1425T>G (p.His475Gln)
|
|
|
|
NM_001382391.1(CSPP1):c.1454G>T (p.Arg485Leu)
|
rs767353646
|
|
|
NM_001382391.1(CSPP1):c.1456A>G (p.Ser486Gly)
|
|
|
|
NM_001382391.1(CSPP1):c.1457G>A (p.Ser486Asn)
|
|
|
|
NM_001382391.1(CSPP1):c.1472C>A (p.Ala491Asp)
|
rs2129550877
|
|
|
NM_001382391.1(CSPP1):c.1497-6A>G
|
|
|
|
NM_001382391.1(CSPP1):c.1497-8T>C
|
|
|
|
NM_001382391.1(CSPP1):c.1498A>T (p.Ile500Phe)
|
|
|
|
NM_001382391.1(CSPP1):c.1504C>T (p.Pro502Ser)
|
|
|
|
NM_001382391.1(CSPP1):c.1505del (p.Pro502fs)
|
rs1818317027
|
|
|
NM_001382391.1(CSPP1):c.1515A>G (p.Pro505=)
|
rs2129551348
|
|
|
NM_001382391.1(CSPP1):c.1521C>G (p.Pro507=)
|
|
|
|
NM_001382391.1(CSPP1):c.1541C>A (p.Thr514Asn)
|
|
|
|
NM_001382391.1(CSPP1):c.1544_1547del (p.Asn515fs)
|
rs752908017
|
|
|
NM_001382391.1(CSPP1):c.1549C>T (p.Arg517Ter)
|
rs756752153
|
|
|
NM_001382391.1(CSPP1):c.1554T>G (p.Thr518=)
|
rs1818326006
|
|
|
NM_001382391.1(CSPP1):c.1556C>A (p.Pro519His)
|
|
|
|
NM_001382391.1(CSPP1):c.1567G>T (p.Ala523Ser)
|
|
|
|
NM_001382391.1(CSPP1):c.1569A>T (p.Ala523=)
|
rs2129551359
|
|
|
NM_001382391.1(CSPP1):c.1571A>T (p.Tyr524Phe)
|
rs1818329945
|
|
|
NM_001382391.1(CSPP1):c.1574A>G (p.Tyr525Cys)
|
rs2129551362
|
|
|
NM_001382391.1(CSPP1):c.1576T>A (p.Phe526Ile)
|
rs2129551363
|
|
|
NM_001382391.1(CSPP1):c.1599C>T (p.Phe533=)
|
|
|
|
NM_001382391.1(CSPP1):c.1600G>T (p.Asp534Tyr)
|
|
|
|
NM_001382391.1(CSPP1):c.1612G>T (p.Ala538Ser)
|
|
|
|
NM_001382391.1(CSPP1):c.1616A>G (p.Tyr539Cys)
|
rs766545455
|
|
|
NM_001382391.1(CSPP1):c.1618+12A>G
|
rs368578567
|
|
|
NM_001382391.1(CSPP1):c.1618+15G>T
|
|
|
|
NM_001382391.1(CSPP1):c.1618+20A>C
|
rs756484052
|
|
|
NM_001382391.1(CSPP1):c.1618+8A>G
|
|
|
|
NM_001382391.1(CSPP1):c.1619-13T>C
|
|
|
|
NM_001382391.1(CSPP1):c.1619-8T>C
|
rs2129551458
|
|
|
NM_001382391.1(CSPP1):c.1619-8del
|
|
|
|
NM_001382391.1(CSPP1):c.162C>T (p.Asn54=)
|
|
|
|
NM_001382391.1(CSPP1):c.1638C>T (p.Gly546=)
|
rs1470629361
|
|
|
NM_001382391.1(CSPP1):c.1639G>C (p.Val547Leu)
|
rs772097768
|
|
|
NM_001382391.1(CSPP1):c.1643A>C (p.Gln548Pro)
|
rs369723292
|
|
|
NM_001382391.1(CSPP1):c.1643A>G (p.Gln548Arg)
|
rs369723292
|
|
|
NM_001382391.1(CSPP1):c.1648G>A (p.Ala550Thr)
|
rs1028530380
|
|
|
NM_001382391.1(CSPP1):c.1661G>A (p.Ser554Asn)
|
rs2129551469
|
|
|
NM_001382391.1(CSPP1):c.166C>T (p.Pro56Ser)
|
|
|
|
NM_001382391.1(CSPP1):c.1677C>T (p.His559=)
|
|
|
|
NM_001382391.1(CSPP1):c.1691C>G (p.Pro564Arg)
|
|
|
|
NM_001382391.1(CSPP1):c.1691C>T (p.Pro564Leu)
|
rs2129551479
|
|
|
NM_001382391.1(CSPP1):c.1697+5_1697+16dup
|
|
|
|
NM_001382391.1(CSPP1):c.1698-12T>C
|
|
|
|
NM_001382391.1(CSPP1):c.1698-13_1698-12del
|
|
|
|
NM_001382391.1(CSPP1):c.1698-4G>C
|
|
|
|
NM_001382391.1(CSPP1):c.169C>T (p.Pro57Ser)
|
|
|
|
NM_001382391.1(CSPP1):c.1703C>A (p.Thr568Lys)
|
rs375847469
|
|
|
NM_001382391.1(CSPP1):c.1704G>T (p.Thr568=)
|
|
|
|
NM_001382391.1(CSPP1):c.1708G>A (p.Gly570Arg)
|
rs2129554180
|
|
|
NM_001382391.1(CSPP1):c.1710A>G (p.Gly570=)
|
|
|
|
NM_001382391.1(CSPP1):c.1722G>A (p.Leu574=)
|
|
|
|
NM_001382391.1(CSPP1):c.1724A>G (p.Lys575Arg)
|
|
|
|
NM_001382391.1(CSPP1):c.1728T>G (p.Ile576Met)
|
rs2129554181
|
|
|
NM_001382391.1(CSPP1):c.1749T>C (p.Asn583=)
|
|
|
|
NM_001382391.1(CSPP1):c.1764T>C (p.Phe588=)
|
|
|
|
NM_001382391.1(CSPP1):c.1767_1769del (p.Glu589del)
|
rs1821332797
|
|
|
NM_001382391.1(CSPP1):c.1771A>C (p.Lys591Gln)
|
|
|
|
NM_001382391.1(CSPP1):c.1775C>T (p.Pro592Leu)
|
|
|
|
NM_001382391.1(CSPP1):c.1780C>T (p.Pro594Ser)
|
|
|
|
NM_001382391.1(CSPP1):c.1784C>A (p.Ser595Tyr)
|
|
|
|
NM_001382391.1(CSPP1):c.1787_1790del (p.Lys596fs)
|
rs1409618249
|
|
|
NM_001382391.1(CSPP1):c.1801T>C (p.Ser601Pro)
|
|
|
|
NM_001382391.1(CSPP1):c.1806C>T (p.Tyr602=)
|
rs1036498137
|
|
|
NM_001382391.1(CSPP1):c.1817del (p.Leu606fs)
|
rs1021950925
|
|
|
NM_001382391.1(CSPP1):c.1827G>A (p.Gln609=)
|
|
|
|
NM_001382391.1(CSPP1):c.1828-11A>G
|
|
|
|
NM_001382391.1(CSPP1):c.1828-1G>C
|
|
|
|
NM_001382391.1(CSPP1):c.1832G>A (p.Arg611Gln)
|
rs771386855
|
|
|
NM_001382391.1(CSPP1):c.1850G>A (p.Arg617Lys)
|
|
|
|
NM_001382391.1(CSPP1):c.1850_1860del (p.Arg617fs)
|
rs1189289587
|
|
|
NM_001382391.1(CSPP1):c.1857_1860del (p.Lys619fs)
|
|
|
|
NM_001382391.1(CSPP1):c.1867G>A (p.Glu623Lys)
|
|
|
|
NM_001382391.1(CSPP1):c.1872A>G (p.Lys624=)
|
rs1822589349
|
|
|
NM_001382391.1(CSPP1):c.1873G>A (p.Glu625Lys)
|
rs2129555264
|
|
|
NM_001382391.1(CSPP1):c.187A>G (p.Arg63Gly)
|
rs767674652
|
|
|
NM_001382391.1(CSPP1):c.188G>C (p.Arg63Thr)
|
rs752873157
|
|
|
NM_001382391.1(CSPP1):c.1897G>C (p.Ala633Pro)
|
rs2129555267
|
|
|
NM_001382391.1(CSPP1):c.18T>A (p.Asp6Glu)
|
rs2129541315
|
|
|
NM_001382391.1(CSPP1):c.1911A>T (p.Thr637=)
|
rs561521861
|
|
|
NM_001382391.1(CSPP1):c.191G>A (p.Gly64Asp)
|
rs1807963359
|
|
|
NM_001382391.1(CSPP1):c.1929A>T (p.Lys643Asn)
|
rs1822601037
|
|
|
NM_001382391.1(CSPP1):c.1937G>A (p.Gly646Asp)
|
rs923561338
|
|
|
NM_001382391.1(CSPP1):c.1942G>A (p.Ala648Thr)
|
|
|
|
NM_001382391.1(CSPP1):c.1958C>T (p.Ala653Val)
|
|
|
|
NM_001382391.1(CSPP1):c.1960A>G (p.Lys654Glu)
|
|
|
|
NM_001382391.1(CSPP1):c.1967A>G (p.Asn656Ser)
|
rs1822608915
|
|
|
NM_001382391.1(CSPP1):c.1969C>G (p.Leu657Val)
|
|
|
|
NM_001382391.1(CSPP1):c.1972A>G (p.Ile658Val)
|
rs2129555283
|
|
|
NM_001382391.1(CSPP1):c.1975+18A>C
|
|
|
|
NM_001382391.1(CSPP1):c.1975+5G>A
|
|
|
|
NM_001382391.1(CSPP1):c.1975+6T>C
|
|
|
|
NM_001382391.1(CSPP1):c.1976-20G>A
|
|
|
|
NM_001382391.1(CSPP1):c.1989G>A (p.Arg663=)
|
|
|
|
NM_001382391.1(CSPP1):c.199+14T>A
|
rs2129541674
|
|
|
NM_001382391.1(CSPP1):c.1991T>C (p.Met664Thr)
|
|
|
|
NM_001382391.1(CSPP1):c.19G>T (p.Glu7Ter)
|
rs1201375699
|
|
|
NM_001382391.1(CSPP1):c.200-13_200-11del
|
rs766452341
|
|
|
NM_001382391.1(CSPP1):c.200-13del
|
|
|
|
NM_001382391.1(CSPP1):c.200-18_200-16del
|
|
|
|
NM_001382391.1(CSPP1):c.200-5T>C
|
|
|
|
NM_001382391.1(CSPP1):c.200-5del
|
|
|
|
NM_001382391.1(CSPP1):c.200-5dup
|
rs775661180
|
|
|
NM_001382391.1(CSPP1):c.2036C>G (p.Thr679Arg)
|
rs766230896
|
|
|
NM_001382391.1(CSPP1):c.2037A>T (p.Thr679=)
|
|
|
|
NM_001382391.1(CSPP1):c.2048A>C (p.Lys683Thr)
|
rs1226391179
|
|
|
NM_001382391.1(CSPP1):c.2056G>C (p.Val686Leu)
|
rs761009916
|
|
|
NM_001382391.1(CSPP1):c.2059G>T (p.Val687Leu)
|
rs764240953
|
|
|
NM_001382391.1(CSPP1):c.2062T>C (p.Ser688Pro)
|
|
|
|
NM_001382391.1(CSPP1):c.2066T>C (p.Leu689Pro)
|
rs2129558004
|
|
|
NM_001382391.1(CSPP1):c.206A>G (p.Asp69Gly)
|
|
|
|
NM_001382391.1(CSPP1):c.2082C>T (p.Ala694=)
|
|
|
|
NM_001382391.1(CSPP1):c.2094T>C (p.Ala698=)
|
rs2129558010
|
|
|
NM_001382391.1(CSPP1):c.2099A>G (p.Asn700Ser)
|
rs2129558011
|
|
|
NM_001382391.1(CSPP1):c.2101C>T (p.Leu701=)
|
|
|
|
NM_001382391.1(CSPP1):c.2103A>G (p.Leu701=)
|
|
|
|
NM_001382391.1(CSPP1):c.2104G>T (p.Glu702Ter)
|
rs1825358020
|
|
|
NM_001382391.1(CSPP1):c.2114C>A (p.Ala705Glu)
|
rs1825359470
|
|
|
NM_001382391.1(CSPP1):c.2121A>G (p.Lys707=)
|
rs1375950004
|
|
|
NM_001382391.1(CSPP1):c.2122A>C (p.Ser708Arg)
|
|
|
|
NM_001382391.1(CSPP1):c.2124C>T (p.Ser708=)
|
|
|
|
NM_001382391.1(CSPP1):c.2128+11A>C
|
|
|
|
NM_001382391.1(CSPP1):c.2128+23_2128+36del
|
rs11296619
|
|
|
NM_001382391.1(CSPP1):c.2128+24_2128+36del
|
|
|
|
NM_001382391.1(CSPP1):c.2128+25_2128+36del
|
rs11296619
|
|
|
NM_001382391.1(CSPP1):c.2128+34_2128+36del
|
rs11296619
|
|
|
NM_001382391.1(CSPP1):c.2128+35_2128+36del
|
rs11296619
|
|
|
NM_001382391.1(CSPP1):c.2128+36del
|
rs11296619
|
|
|
NM_001382391.1(CSPP1):c.2128+7_2128+25del
|
rs2129558020
|
|
|
NM_001382391.1(CSPP1):c.2129-16A>G
|
rs1826203961
|
|
|
NM_001382391.1(CSPP1):c.2129-2A>G
|
rs2129559034
|
|
|
NM_001382391.1(CSPP1):c.2129-4C>G
|
|
|
|
NM_001382391.1(CSPP1):c.2129G>T (p.Gly710Val)
|
rs780885390
|
|
|
NM_001382391.1(CSPP1):c.2136G>A (p.Met712Ile)
|
|
|
|
NM_001382391.1(CSPP1):c.214T>C (p.Leu72=)
|
rs887024306
|
|
|
NM_001382391.1(CSPP1):c.2162G>T (p.Arg721Leu)
|
rs201974031
|
|
|
NM_001382391.1(CSPP1):c.2174T>C (p.Phe725Ser)
|
rs2129559050
|
|
|
NM_001382391.1(CSPP1):c.2183C>G (p.Pro728Arg)
|
|
|
|
NM_001382391.1(CSPP1):c.2184T>C (p.Pro728=)
|
|
|
|
NM_001382391.1(CSPP1):c.2188A>G (p.Thr730Ala)
|
|
|
|
NM_001382391.1(CSPP1):c.2194C>T (p.Leu732Phe)
|
rs2129559060
|
|
|
NM_001382391.1(CSPP1):c.2199G>A (p.Gln733=)
|
rs1826220671
|
|
|
NM_001382391.1(CSPP1):c.2201T>A (p.Ile734Asn)
|
|
|
|
NM_001382391.1(CSPP1):c.2205del (p.Lys735fs)
|
|
|
|
NM_001382391.1(CSPP1):c.2206C>A (p.Gln736Lys)
|
rs2129559063
|
|
|
NM_001382391.1(CSPP1):c.2206C>T (p.Gln736Ter)
|
|
|
|
NM_001382391.1(CSPP1):c.2218T>C (p.Tyr740His)
|
|
|
|
NM_001382391.1(CSPP1):c.2220C>A (p.Tyr740Ter)
|
rs1402669959
|
|
|
NM_001382391.1(CSPP1):c.2226T>A (p.Asn742Lys)
|
rs1826224959
|
|
|
NM_001382391.1(CSPP1):c.2234G>C (p.Arg745Pro)
|
rs769971911
|
|
|
NM_001382391.1(CSPP1):c.2240A>T (p.Gln747Leu)
|
rs2129559079
|
|
|
NM_001382391.1(CSPP1):c.2241+15G>A
|
|
|
|
NM_001382391.1(CSPP1):c.2241+19A>C
|
|
|
|
NM_001382391.1(CSPP1):c.2241+20_2241+25del
|
rs2129559087
|
|
|
NM_001382391.1(CSPP1):c.2241+9C>G
|
rs1826230466
|
|
|
NM_001382391.1(CSPP1):c.2242-13T>C
|
|
|
|
NM_001382391.1(CSPP1):c.2242-18_2242-15del
|
rs747115433
|
|
|
NM_001382391.1(CSPP1):c.224C>T (p.Pro75Leu)
|
|
|
|
NM_001382391.1(CSPP1):c.2259_2260del (p.Glu755fs)
|
rs587777139
|
|
|
NM_001382391.1(CSPP1):c.2263G>A (p.Glu755Lys)
|
|
|
|
NM_001382391.1(CSPP1):c.2266G>T (p.Glu756Ter)
|
|
|
|
NM_001382391.1(CSPP1):c.2282_2283del (p.Arg761fs)
|
|
|
|
NM_001382391.1(CSPP1):c.2285_2286del (p.Leu762fs)
|
rs1827098991
|
|
|
NM_001382391.1(CSPP1):c.228T>C (p.Leu76=)
|
|
|
|
NM_001382391.1(CSPP1):c.2295A>G (p.Ala765=)
|
|
|
|
NM_001382391.1(CSPP1):c.2297A>G (p.Glu766Gly)
|
|
|
|
NM_001382391.1(CSPP1):c.2301A>G (p.Glu767=)
|
rs2129560136
|
|
|
NM_001382391.1(CSPP1):c.2305GAA[1] (p.Glu770del)
|
rs2129560139
|
|
|
NM_001382391.1(CSPP1):c.2315G>A (p.Arg772Gln)
|
|
|
|
NM_001382391.1(CSPP1):c.2316G>A (p.Arg772=)
|
rs1827105533
|
|
|
NM_001382391.1(CSPP1):c.2322A>G (p.Ala774=)
|
rs2129560142
|
|
|
NM_001382391.1(CSPP1):c.2323G>C (p.Glu775Gln)
|
|
|
|
NM_001382391.1(CSPP1):c.2343G>A (p.Gln781=)
|
rs2129560155
|
|
|
NM_001382391.1(CSPP1):c.2346G>A (p.Gln782=)
|
rs754878483
|
|
|
NM_001382391.1(CSPP1):c.236A>T (p.Asp79Val)
|
|
|
|
NM_001382391.1(CSPP1):c.2370G>T (p.Lys790Asn)
|
|
|
|
NM_001382391.1(CSPP1):c.2372_2376del (p.Lys791fs)
|
|
|
|
NM_001382391.1(CSPP1):c.2373A>G (p.Lys791=)
|
|
|
|
NM_001382391.1(CSPP1):c.2377G>C (p.Glu793Gln)
|
|
|
|
NM_001382391.1(CSPP1):c.2379_2380del (p.Lys794fs)
|
rs1375090095
|
|
|
NM_001382391.1(CSPP1):c.2387A>G (p.Glu796Gly)
|
rs1827120184
|
|
|
NM_001382391.1(CSPP1):c.2388G>A (p.Glu796=)
|
|
|
|
NM_001382391.1(CSPP1):c.2391+3A>T
|
rs1338097590
|
|
|
NM_001382391.1(CSPP1):c.2391+4C>T
|
|
|
|
NM_001382391.1(CSPP1):c.2392-12T>G
|
rs1322610870
|
|
|
NM_001382391.1(CSPP1):c.2392-17_2392-12del
|
rs763447128
|
|
|
NM_001382391.1(CSPP1):c.2392-8T>C
|
|
|
|
NM_001382391.1(CSPP1):c.2392-8_2392-4del
|
rs528357182
|
|
|
NM_001382391.1(CSPP1):c.2398C>G (p.Leu800Val)
|
rs2129560252
|
|
|
NM_001382391.1(CSPP1):c.239_240del (p.Asp79_Tyr80insTer)
|
|
|
|
NM_001382391.1(CSPP1):c.2409_2411del (p.Glu804del)
|
rs773946059
|
|
|
NM_001382391.1(CSPP1):c.2411A>C (p.Glu804Ala)
|
|
|
|
NM_001382391.1(CSPP1):c.2419C>G (p.Arg807Gly)
|
|
|
|
NM_001382391.1(CSPP1):c.2421G>A (p.Arg807=)
|
rs1209655756
|
|
|
NM_001382391.1(CSPP1):c.2425G>A (p.Ala809Thr)
|
rs1283124706
|
|
|
NM_001382391.1(CSPP1):c.2456_2459del (p.Lys819fs)
|
rs761382780
|
|
|
NM_001382391.1(CSPP1):c.2464GAA[3] (p.Glu825del)
|
rs750079297
|
|
|
NM_001382391.1(CSPP1):c.2477_2478insT (p.Lys826fs)
|
|
|
|
NM_001382391.1(CSPP1):c.2481T>C (p.Tyr827=)
|
rs1312436989
|
|
|
NM_001382391.1(CSPP1):c.2491C>T (p.Leu831Phe)
|
|
|
|
NM_001382391.1(CSPP1):c.2499C>T (p.His833=)
|
|
|
|
NM_001382391.1(CSPP1):c.2504G>A (p.Cys835Tyr)
|
|
|
|
NM_001382391.1(CSPP1):c.2514C>G (p.Asp838Glu)
|
|
|
|
NM_001382391.1(CSPP1):c.2514C>T (p.Asp838=)
|
|
|
|
NM_001382391.1(CSPP1):c.251A>C (p.Lys84Thr)
|
|
|
|
NM_001382391.1(CSPP1):c.2521_2524del (p.Ile841fs)
|
rs755739341
|
|
|
NM_001382391.1(CSPP1):c.2523T>C (p.Ile841=)
|
|
|
|
NM_001382391.1(CSPP1):c.2525G>A (p.Gly842Glu)
|
rs752478502
|
|
|
NM_001382391.1(CSPP1):c.2526G>A (p.Gly842=)
|
|
|
|
NM_001382391.1(CSPP1):c.2527dup (p.Glu843fs)
|
rs1554604482
|
|
|
NM_001382391.1(CSPP1):c.2529A>G (p.Glu843=)
|
|
|
|
NM_001382391.1(CSPP1):c.252A>G (p.Lys84=)
|
|
|
|
NM_001382391.1(CSPP1):c.2530G>A (p.Glu844Lys)
|
rs909732603
|
|
|
NM_001382391.1(CSPP1):c.2530G>C (p.Glu844Gln)
|
|
|
|
NM_001382391.1(CSPP1):c.2533A>T (p.Thr845Ser)
|
rs1484918109
|
|
|
NM_001382391.1(CSPP1):c.2538+13C>A
|
|
|
|
NM_001382391.1(CSPP1):c.2538+18A>G
|
|
|
|
NM_001382391.1(CSPP1):c.2538+19T>C
|
|
|
|
NM_001382391.1(CSPP1):c.2538+20G>A
|
|
|
|
NM_001382391.1(CSPP1):c.2539-13_2539-4del
|
rs753606187
|
|
|
NM_001382391.1(CSPP1):c.2539-18A>G
|
|
|
|
NM_001382391.1(CSPP1):c.2539-4del
|
rs754861164
|
|
|
NM_001382391.1(CSPP1):c.2539-8T>A
|
|
|
|
NM_001382391.1(CSPP1):c.2540del (p.His847fs)
|
rs1563720581
|
|
|
NM_001382391.1(CSPP1):c.2542A>G (p.Met848Val)
|
|
|
|
NM_001382391.1(CSPP1):c.2542_2543del (p.Met848fs)
|
rs587777143
|
|
|
NM_001382391.1(CSPP1):c.2557_2559del (p.Pro853del)
|
rs1828417560
|
|
|
NM_001382391.1(CSPP1):c.255_256del (p.His85fs)
|
rs1554562278
|
|
|
NM_001382391.1(CSPP1):c.2563G>C (p.Val855Leu)
|
rs1828419474
|
|
|
NM_001382391.1(CSPP1):c.2580C>T (p.Asn860=)
|
|
|
|
NM_001382391.1(CSPP1):c.2584del (p.Ile862fs)
|
|
|
|
NM_001382391.1(CSPP1):c.2589A>G (p.Ala863=)
|
|
|
|
NM_001382391.1(CSPP1):c.2594A>G (p.Lys865Arg)
|
|
|
|
NM_001382391.1(CSPP1):c.2594A>T (p.Lys865Ile)
|
rs1828425319
|
|
|
NM_001382391.1(CSPP1):c.259T>A (p.Leu87Ile)
|
rs2129543528
|
|
|
NM_001382391.1(CSPP1):c.259_263del (p.Leu87fs)
|
|
|
|
NM_001382391.1(CSPP1):c.2600A>G (p.Gln867Arg)
|
|
|
|
NM_001382391.1(CSPP1):c.2631T>C (p.Arg877=)
|
|
|
|
NM_001382391.1(CSPP1):c.2633C>T (p.Ser878Phe)
|
rs2129561809
|
|
|
NM_001382391.1(CSPP1):c.2637T>C (p.Phe879=)
|
|
|
|
NM_001382391.1(CSPP1):c.263_267del (p.Lys88fs)
|
rs2129543529
|
|
|
NM_001382391.1(CSPP1):c.2641C>G (p.His881Asp)
|
rs1828434498
|
|
|
NM_001382391.1(CSPP1):c.2643+11T>C
|
|
|
|
NM_001382391.1(CSPP1):c.2643+16T>A
|
|
|
|
NM_001382391.1(CSPP1):c.2643+4T>C
|
|
|
|
NM_001382391.1(CSPP1):c.2643+4T>G
|
rs748730202
|
|
|
NM_001382391.1(CSPP1):c.2644-11T>C
|
|
|
|
NM_001382391.1(CSPP1):c.2644-11T>G
|
|
|
|
NM_001382391.1(CSPP1):c.2644-12A>G
|
rs2129562431
|
|
|
NM_001382391.1(CSPP1):c.2644-14T>G
|
rs2129562428
|
|
|
NM_001382391.1(CSPP1):c.2644-15A>C
|
|
|
|
NM_001382391.1(CSPP1):c.2644-18G>C
|
|
|
|
NM_001382391.1(CSPP1):c.264del (p.Glu89fs)
|
|
|
|
NM_001382391.1(CSPP1):c.2657C>T (p.Ser886Phe)
|
|
|
|
NM_001382391.1(CSPP1):c.2669C>A (p.Ser890Ter)
|
|
|
|
NM_001382391.1(CSPP1):c.2675C>G (p.Pro892Arg)
|
rs779762140
|
|
|
NM_001382391.1(CSPP1):c.2675C>T (p.Pro892Leu)
|
|
|
|
NM_001382391.1(CSPP1):c.2685C>G (p.Ala895=)
|
rs2129562477
|
|
|
NM_001382391.1(CSPP1):c.2686A>G (p.Arg896Gly)
|
rs2129562479
|
|
|
NM_001382391.1(CSPP1):c.2687G>A (p.Arg896Lys)
|
|
|
|
NM_001382391.1(CSPP1):c.2688G>A (p.Arg896=)
|
rs2129562485
|
|
|
NM_001382391.1(CSPP1):c.2692A>C (p.Asn898His)
|
rs1828818248
|
|
|
NM_001382391.1(CSPP1):c.2697G>A (p.Gln899=)
|
|
|
|
NM_001382391.1(CSPP1):c.2701C>T (p.Arg901Cys)
|
rs757750162
|
|
|
NM_001382391.1(CSPP1):c.2703T>C (p.Arg901=)
|
|
|
|
NM_001382391.1(CSPP1):c.2711-13T>C
|
|
|
|
NM_001382391.1(CSPP1):c.271T>A (p.Leu91Met)
|
rs374300498
|
|
|
NM_001382391.1(CSPP1):c.2723A>G (p.Asn908Ser)
|
|
|
|
NM_001382391.1(CSPP1):c.2723del (p.Asn908fs)
|
rs863225190
|
|
|
NM_001382391.1(CSPP1):c.2735A>G (p.Glu912Gly)
|
rs1586651470
|
|
|
NM_001382391.1(CSPP1):c.2739A>G (p.Leu913=)
|
|
|
|
NM_001382391.1(CSPP1):c.2740T>C (p.Ser914Pro)
|
|
|
|
NM_001382391.1(CSPP1):c.2741C>G (p.Ser914Ter)
|
|
|
|
NM_001382391.1(CSPP1):c.2741C>T (p.Ser914Leu)
|
rs779579881
|
|
|
NM_001382391.1(CSPP1):c.274C>A (p.Arg92=)
|
|
|
|
NM_001382391.1(CSPP1):c.274C>T (p.Arg92Trp)
|
rs367889164
|
|
|
NM_001382391.1(CSPP1):c.2753A>G (p.Lys918Arg)
|
|
|
|
NM_001382391.1(CSPP1):c.275G>A (p.Arg92Gln)
|
rs764280843
|
|
|
NM_001382391.1(CSPP1):c.2761C>T (p.Arg921Cys)
|
rs776600422
|
|
|
NM_001382391.1(CSPP1):c.2763T>C (p.Arg921=)
|
rs2129562840
|
|
|
NM_001382391.1(CSPP1):c.2781A>G (p.Leu927=)
|
|
|
|
NM_001382391.1(CSPP1):c.2785G>C (p.Glu929Gln)
|
|
|
|
NM_001382391.1(CSPP1):c.2788C>G (p.Arg930Gly)
|
|
|
|
NM_001382391.1(CSPP1):c.2791T>C (p.Leu931=)
|
|
|
|
NM_001382391.1(CSPP1):c.2796A>G (p.Leu932=)
|
|
|
|
NM_001382391.1(CSPP1):c.280G>A (p.Asp94Asn)
|
rs1182648944
|
|
|
NM_001382391.1(CSPP1):c.2810A>G (p.Asp937Gly)
|
|
|
|
NM_001382391.1(CSPP1):c.2812G>C (p.Asp938His)
|
rs1402959828
|
|
|
NM_001382391.1(CSPP1):c.2821C>A (p.Pro941Thr)
|
|
|
|
NM_001382391.1(CSPP1):c.2821C>G (p.Pro941Ala)
|
|
|
|
NM_001382391.1(CSPP1):c.2824A>G (p.Ile942Val)
|
|
|
|
NM_001382391.1(CSPP1):c.2828+16C>A
|
rs749065903
|
|
|
NM_001382391.1(CSPP1):c.2828+20T>A
|
rs2129562857
|
|
|
NM_001382391.1(CSPP1):c.2828+2C>T
|
rs1828946939
|
|
|
NM_001382391.1(CSPP1):c.2829-7T>C
|
|
|
|
NM_001382391.1(CSPP1):c.2829-8A>G
|
|
|
|
NM_001382391.1(CSPP1):c.2832A>G (p.Lys944=)
|
|
|
|
NM_001382391.1(CSPP1):c.2835G>A (p.Lys945=)
|
|
|
|
NM_001382391.1(CSPP1):c.2855T>C (p.Ile952Thr)
|
|
|
|
NM_001382391.1(CSPP1):c.2862T>C (p.Asp954=)
|
rs1586718478
|
|
|
NM_001382391.1(CSPP1):c.2869A>G (p.Arg957Gly)
|
|
|
|
NM_001382391.1(CSPP1):c.2887C>G (p.Pro963Ala)
|
rs770066826
|
|
|
NM_001382391.1(CSPP1):c.2887C>T (p.Pro963Ser)
|
rs770066826
|
|
|
NM_001382391.1(CSPP1):c.2888C>T (p.Pro963Leu)
|
rs781283590
|
|
|
NM_001382391.1(CSPP1):c.2906C>G (p.Pro969Arg)
|
rs1480057271
|
|
|
NM_001382391.1(CSPP1):c.291T>C (p.Arg97=)
|
|
|
|
NM_001382391.1(CSPP1):c.2939T>G (p.Val980Gly)
|
rs1830675527
|
|
|
NM_001382391.1(CSPP1):c.2943T>C (p.His981=)
|
|
|
|
NM_001382391.1(CSPP1):c.2967A>G (p.Arg989=)
|
rs2129567311
|
|
|
NM_001382391.1(CSPP1):c.2968+1G>A
|
rs587777142
|
|
|
NM_001382391.1(CSPP1):c.2968+5G>A
|
rs1057524684
|
|
|
NM_001382391.1(CSPP1):c.2968G>A (p.Asp990Asn)
|
rs1830678644
|
|
|
NM_001382391.1(CSPP1):c.2969-19A>G
|
|
|
|
NM_001382391.1(CSPP1):c.2969-8T>A
|
|
|
|
NM_001382391.1(CSPP1):c.3011C>T (p.Pro1004Leu)
|
rs993509179
|
|
|
NM_001382391.1(CSPP1):c.3015A>C (p.Pro1005=)
|
rs1831352053
|
|
|
NM_001382391.1(CSPP1):c.3029C>T (p.Thr1010Ile)
|
rs750443075
|
|
|
NM_001382391.1(CSPP1):c.303+5T>C
|
rs1332818013
|
|
|
NM_001382391.1(CSPP1):c.3040C>A (p.Gln1014Lys)
|
rs374717800
|
|
|
NM_001382391.1(CSPP1):c.3040C>G (p.Gln1014Glu)
|
rs374717800
|
|
|
NM_001382391.1(CSPP1):c.3050C>T (p.Ala1017Val)
|
rs1831355993
|
|
|
NM_001382391.1(CSPP1):c.3072G>C (p.Lys1024Asn)
|
|
|
|
NM_001382391.1(CSPP1):c.30A>G (p.Glu10=)
|
|
|
|
NM_001382391.1(CSPP1):c.30del (p.Glu11fs)
|
|
|
|
NM_001382391.1(CSPP1):c.3105C>T (p.Ala1035=)
|
|
|
|
NM_001382391.1(CSPP1):c.3109+4dup
|
rs2129568589
|
|
|
NM_001382391.1(CSPP1):c.3110-1G>A
|
rs1064795687
|
|
|
NM_001382391.1(CSPP1):c.3110-7A>G
|
rs1832018947
|
|
|
NM_001382391.1(CSPP1):c.3126C>T (p.Ile1042=)
|
|
|
|
NM_001382391.1(CSPP1):c.3135T>C (p.Ala1045=)
|
|
|
|
NM_001382391.1(CSPP1):c.3141A>G (p.Val1047=)
|
|
|
|
NM_001382391.1(CSPP1):c.3142C>T (p.Arg1048Ter)
|
rs200881715
|
|
|
NM_001382391.1(CSPP1):c.3143G>A (p.Arg1048Gln)
|
|
|
|
NM_001382391.1(CSPP1):c.3155T>C (p.Met1052Thr)
|
|
|
|
NM_001382391.1(CSPP1):c.3157-19del
|
rs1446937196
|
|
|
NM_001382391.1(CSPP1):c.3166G>A (p.Asp1056Asn)
|
|
|
|
NM_001382391.1(CSPP1):c.3168C>T (p.Asp1056=)
|
|
|
|
NM_001382391.1(CSPP1):c.3170C>A (p.Thr1057Asn)
|
|
|
|
NM_001382391.1(CSPP1):c.3213T>C (p.Ala1071=)
|
|
|
|
NM_001382391.1(CSPP1):c.3220+13_3220+16del
|
|
|
|
NM_001382391.1(CSPP1):c.3220+7A>G
|
|
|
|
NM_001382391.1(CSPP1):c.3220+8T>C
|
|
|
|
NM_001382391.1(CSPP1):c.3221-10G>A
|
|
|
|
NM_001382391.1(CSPP1):c.3221-1G>A
|
|
|
|
NM_001382391.1(CSPP1):c.3221-5C>T
|
|
|
|
NM_001382391.1(CSPP1):c.3221-9T>A
|
rs753184305
|
|
|
NM_001382391.1(CSPP1):c.3222G>T (p.Gly1074=)
|
|
|
|
NM_001382391.1(CSPP1):c.3227dup (p.Tyr1076Ter)
|
rs587777141
|
|
|
NM_001382391.1(CSPP1):c.3228C>T (p.Tyr1076=)
|
rs1442543547
|
|
|
NM_001382391.1(CSPP1):c.3232G>C (p.Glu1078Gln)
|
|
|
|
NM_001382391.1(CSPP1):c.3253G>A (p.Asp1085Asn)
|
|
|
|
NM_001382391.1(CSPP1):c.3254A>G (p.Asp1085Gly)
|
|
|
|
NM_001382391.1(CSPP1):c.3266del (p.Pro1089fs)
|
|
|
|
NM_001382391.1(CSPP1):c.3273A>G (p.Pro1091=)
|
|
|
|
NM_001382391.1(CSPP1):c.3283C>A (p.Pro1095Thr)
|
|
|
|
NM_001382391.1(CSPP1):c.3288T>C (p.Ser1096=)
|
rs2129575182
|
|
|
NM_001382391.1(CSPP1):c.3289G>A (p.Ala1097Thr)
|
|
|
|
NM_001382391.1(CSPP1):c.3289G>T (p.Ala1097Ser)
|
rs774501418
|
|
|
NM_001382391.1(CSPP1):c.3293G>A (p.Arg1098Gln)
|
|
|
|
NM_001382391.1(CSPP1):c.3328A>T (p.Ile1110Phe)
|
rs754193806
|
|
|
NM_001382391.1(CSPP1):c.3330+13C>A
|
|
|
|
NM_001382391.1(CSPP1):c.3330+13C>T
|
|
|
|
NM_001382391.1(CSPP1):c.3330+17del
|
|
|
|
NM_001382391.1(CSPP1):c.3330+19T>A
|
|
|
|
NM_001382391.1(CSPP1):c.3330+1G>C
|
rs1045070965
|
|
|
NM_001382391.1(CSPP1):c.3330+20C>T
|
|
|
|
NM_001382391.1(CSPP1):c.3330+2T>C
|
|
|
|
NM_001382391.1(CSPP1):c.3331-10C>T
|
rs774609234
|
|
|
NM_001382391.1(CSPP1):c.3331-2A>G
|
rs1836992042
|
|
|
NM_001382391.1(CSPP1):c.3331-7A>C
|
rs2129575934
|
|
|
NM_001382391.1(CSPP1):c.3331-8A>G
|
|
|
|
NM_001382391.1(CSPP1):c.3341G>A (p.Arg1114His)
|
rs775362535
|
|
|
NM_001382391.1(CSPP1):c.3354A>G (p.Ala1118=)
|
|
|
|
NM_001382391.1(CSPP1):c.3366C>T (p.Leu1122=)
|
|
|
|
NM_001382391.1(CSPP1):c.3368_3371del (p.Leu1122_Ser1123insTer)
|
rs1206214608
|
|
|
NM_001382391.1(CSPP1):c.3387T>C (p.Ser1129=)
|
rs2129575946
|
|
|
NM_001382391.1(CSPP1):c.3395T>C (p.Val1132Ala)
|
|
|
|
NM_001382391.1(CSPP1):c.3395_3397del (p.Val1132del)
|
rs749558548
|
|
|
NM_001382391.1(CSPP1):c.3398A>C (p.Asp1133Ala)
|
|
|
|
NM_001382391.1(CSPP1):c.3399T>A (p.Asp1133Glu)
|
|
|
|
NM_001382391.1(CSPP1):c.33G>A (p.Glu11=)
|
rs1327593032
|
|
|
NM_001382391.1(CSPP1):c.3400G>A (p.Glu1134Lys)
|
|
|
|
NM_001382391.1(CSPP1):c.3404T>G (p.Leu1135Arg)
|
rs546683385
|
|
|
NM_001382391.1(CSPP1):c.3405_3406del (p.Arg1136fs)
|
rs2129575958
|
|
|
NM_001382391.1(CSPP1):c.3406_3407insTATA (p.Arg1136delinsIleTer)
|
rs1175214174
|
|
|
NM_001382391.1(CSPP1):c.3415A>G (p.Asn1139Asp)
|
rs1837019445
|
|
|
NM_001382391.1(CSPP1):c.3420G>A (p.Glu1140=)
|
rs747965774
|
|
|
NM_001382391.1(CSPP1):c.3428T>C (p.Met1143Thr)
|
rs2129575962
|
|
|
NM_001382391.1(CSPP1):c.3435A>G (p.Arg1145=)
|
rs2129575969
|
|
|
NM_001382391.1(CSPP1):c.3437T>C (p.Leu1146Pro)
|
|
|
|
NM_001382391.1(CSPP1):c.3438G>C (p.Leu1146=)
|
|
|
|
NM_001382391.1(CSPP1):c.3439A>C (p.Asn1147His)
|
|
|
|
NM_001382391.1(CSPP1):c.3452A>G (p.Asn1151Ser)
|
rs569956227
|
|
|
NM_001382391.1(CSPP1):c.3454A>G (p.Lys1152Glu)
|
|
|
|
NM_001382391.1(CSPP1):c.3455A>G (p.Lys1152Arg)
|
rs2129575980
|
|
|
NM_001382391.1(CSPP1):c.3469+10C>T
|
|
|
|
NM_001382391.1(CSPP1):c.3470-12T>C
|
|
|
|
NM_001382391.1(CSPP1):c.3470-16C>T
|
|
|
|
NM_001382391.1(CSPP1):c.3470-20G>A
|
|
|
|
NM_001382391.1(CSPP1):c.3470-4G>A
|
|
|
|
NM_001382391.1(CSPP1):c.3472dup (p.Asp1158fs)
|
rs760082779
|
|
|
NM_001382391.1(CSPP1):c.3477_3479dup (p.Glu1159_Ser1160insArg)
|
|
|
|
NM_001382391.1(CSPP1):c.3478A>C (p.Ser1160Arg)
|
|
|
|
NM_001382391.1(CSPP1):c.3478_3479del (p.Ser1160fs)
|
rs2129576630
|
|
|
NM_001382391.1(CSPP1):c.3487G>A (p.Val1163Ile)
|
rs1414800888
|
|
|
NM_001382391.1(CSPP1):c.3496G>C (p.Asp1166His)
|
rs1837730212
|
|
|
NM_001382391.1(CSPP1):c.3509_3512dup (p.His1171fs)
|
rs776145236
|
|
|
NM_001382391.1(CSPP1):c.3510A>G (p.Lys1170=)
|
|
|
|
NM_001382391.1(CSPP1):c.3518G>C (p.Gly1173Ala)
|
rs1837735009
|
|
|
NM_001382391.1(CSPP1):c.3525C>A (p.Asp1175Glu)
|
|
|
|
NM_001382391.1(CSPP1):c.3525C>T (p.Asp1175=)
|
|
|
|
NM_001382391.1(CSPP1):c.3528A>C (p.Gly1176=)
|
rs2129576649
|
|
|
NM_001382391.1(CSPP1):c.3533_3536dup (p.Val1180fs)
|
rs1563816165
|
|
|
NM_001382391.1(CSPP1):c.3563C>T (p.Pro1188Leu)
|
|
|
|
NM_001382391.1(CSPP1):c.3569C>T (p.Thr1190Ile)
|
|
|
|
NM_001382391.1(CSPP1):c.3576A>G (p.Glu1192=)
|
rs760969187
|
|
|
NM_001382391.1(CSPP1):c.3580C>T (p.Leu1194=)
|
|
|
|
NM_001382391.1(CSPP1):c.3585dup (p.Arg1196fs)
|
|
|
|
NM_001382391.1(CSPP1):c.3588T>C (p.Arg1196=)
|
rs2129576668
|
|
|
NM_001382391.1(CSPP1):c.3598G>A (p.Glu1200Lys)
|
|
|
|
NM_001382391.1(CSPP1):c.3603G>C (p.Gln1201His)
|
rs1837760146
|
|
|
NM_001382391.1(CSPP1):c.3606G>C (p.Leu1202=)
|
|
|
|
NM_001382391.1(CSPP1):c.3620A>G (p.Gln1207Arg)
|
rs1026132903
|
|
|
NM_001382391.1(CSPP1):c.3622C>T (p.Gln1208Ter)
|
|
|
|
NM_001382391.1(CSPP1):c.3639A>G (p.Pro1213=)
|
|
|
|
NM_001382391.1(CSPP1):c.3640G>T (p.Gly1214Cys)
|
|
|
|
NM_001382391.1(CSPP1):c.3652T>C (p.Trp1218Arg)
|
|
|
|
NM_001382391.1(CSPP1):c.3652_3662del (p.Trp1218fs)
|
|
|
|
NM_001382391.1(CSPP1):c.3660C>A (p.Gly1220=)
|
|
|
|
NM_001382391.1(CSPP1):c.3660C>T (p.Gly1220=)
|
|
|
|
NM_001382391.1(CSPP1):c.3661C>T (p.Leu1221=)
|
rs2129576686
|
|
|
NM_001382391.1(CSPP1):c.3662T>C (p.Leu1221Pro)
|
|
|
|
NM_001382391.1(CSPP1):c.385-12T>A
|
|
|
|
NM_001382391.1(CSPP1):c.385-16del
|
|
|
|
NM_001382391.1(CSPP1):c.385-9dup
|
|
|
|
NM_001382391.1(CSPP1):c.390G>T (p.Arg130Ser)
|
|
|
|
NM_001382391.1(CSPP1):c.403C>T (p.Arg135Cys)
|
|
|
|
NM_001382391.1(CSPP1):c.417C>T (p.Tyr139=)
|
|
|
|
NM_001382391.1(CSPP1):c.419_422del (p.Asn140fs)
|
rs1371078806
|
|
|
NM_001382391.1(CSPP1):c.42C>T (p.Ala14=)
|
|
|
|
NM_001382391.1(CSPP1):c.434G>A (p.Gly145Asp)
|
|
|
|
NM_001382391.1(CSPP1):c.436A>G (p.Lys146Glu)
|
|
|
|
NM_001382391.1(CSPP1):c.441A>G (p.Glu147=)
|
|
|
|
NM_001382391.1(CSPP1):c.442G>T (p.Glu148Ter)
|
|
|
|
NM_001382391.1(CSPP1):c.448A>G (p.Ser150Gly)
|
rs1554569071
|
|
|
NM_001382391.1(CSPP1):c.468G>C (p.Val156=)
|
|
|
|
NM_001382391.1(CSPP1):c.46T>G (p.Leu16Val)
|
rs150924296
|
|
|
NM_001382391.1(CSPP1):c.475A>G (p.Ser159Gly)
|
|
|
|
NM_001382391.1(CSPP1):c.483+2T>A
|
|
|
|
NM_001382391.1(CSPP1):c.483+6T>C
|
|
|
|
NM_001382391.1(CSPP1):c.486C>A (p.Pro162=)
|
|
|
|
NM_001382391.1(CSPP1):c.489G>A (p.Lys163=)
|
rs1479574918
|
|
|
NM_001382391.1(CSPP1):c.496A>C (p.Arg166=)
|
rs2129545446
|
|
|
NM_001382391.1(CSPP1):c.508C>G (p.Pro170Ala)
|
rs2129545447
|
|
|
NM_001382391.1(CSPP1):c.513T>A (p.Ile171=)
|
rs1308150996
|
|
|
NM_001382391.1(CSPP1):c.532C>T (p.Leu178=)
|
rs2129545457
|
|
|
NM_001382391.1(CSPP1):c.549G>A (p.Gln183=)
|
|
|
|
NM_001382391.1(CSPP1):c.554C>G (p.Ser185Cys)
|
rs1477078769
|
|
|
NM_001382391.1(CSPP1):c.572G>A (p.Gly191Asp)
|
rs2129545466
|
|
|
NM_001382391.1(CSPP1):c.577A>G (p.Arg193Gly)
|
|
|
|
NM_001382391.1(CSPP1):c.579A>G (p.Arg193=)
|
|
|
|
NM_001382391.1(CSPP1):c.58A>C (p.Lys20Gln)
|
rs1807446261
|
|
|
NM_001382391.1(CSPP1):c.59_60del (p.Lys20fs)
|
rs766020802
|
|
|
NM_001382391.1(CSPP1):c.632G>A (p.Arg211Gln)
|
rs193231165
|
|
|
NM_001382391.1(CSPP1):c.633A>G (p.Arg211=)
|
|
|
|
NM_001382391.1(CSPP1):c.635T>G (p.Leu212Arg)
|
|
|
|
NM_001382391.1(CSPP1):c.638A>G (p.Glu213Gly)
|
|
|
|
NM_001382391.1(CSPP1):c.63A>C (p.Ala21=)
|
|
|
|
NM_001382391.1(CSPP1):c.663T>G (p.Asp221Glu)
|
|
|
|
NM_001382391.1(CSPP1):c.672C>T (p.Ile224=)
|
|
|
|
NM_001382391.1(CSPP1):c.676T>A (p.Leu226Ile)
|
|
|
|
NM_001382391.1(CSPP1):c.692T>C (p.Ile231Thr)
|
|
|
|
NM_001382391.1(CSPP1):c.719G>A (p.Gly240Asp)
|
|
|
|
NM_001382391.1(CSPP1):c.727A>C (p.Asn243His)
|
rs777234205
|
|
|
NM_001382391.1(CSPP1):c.731T>G (p.Leu244Arg)
|
rs2129545496
|
|
|
NM_001382391.1(CSPP1):c.741A>G (p.Gln247=)
|
|
|
|
NM_001382391.1(CSPP1):c.745T>C (p.Phe249Leu)
|
|
|
|
NM_001382391.1(CSPP1):c.750A>G (p.Ala250=)
|
|
|
|
NM_001382391.1(CSPP1):c.757G>C (p.Ala253Pro)
|
rs771943937
|
|
|
NM_001382391.1(CSPP1):c.761G>A (p.Gly254Asp)
|
rs763959523
|
|
|
NM_001382391.1(CSPP1):c.767C>G (p.Pro256Arg)
|
rs2129545507
|
|
|
NM_001382391.1(CSPP1):c.768A>G (p.Pro256=)
|
|
|
|
NM_001382391.1(CSPP1):c.769G>A (p.Asp257Asn)
|
rs750608589
|
|
|
NM_001382391.1(CSPP1):c.769G>T (p.Asp257Tyr)
|
rs750608589
|
|
|
NM_001382391.1(CSPP1):c.789T>C (p.Phe263=)
|
rs2129545515
|
|
|
NM_001382391.1(CSPP1):c.796G>A (p.Asp266Asn)
|
|
|
|
NM_001382391.1(CSPP1):c.797A>G (p.Asp266Gly)
|
rs1353287068
|
|
|
NM_001382391.1(CSPP1):c.803T>A (p.Val268Asp)
|
rs1812585066
|
|
|
NM_001382391.1(CSPP1):c.809A>T (p.Asp270Val)
|
rs1812585556
|
|
|
NM_001382391.1(CSPP1):c.816G>A (p.Arg272=)
|
|
|
|
NM_001382391.1(CSPP1):c.816G>T (p.Arg272=)
|
|
|
|
NM_001382391.1(CSPP1):c.818A>G (p.Tyr273Cys)
|
|
|
|
NM_001382391.1(CSPP1):c.81A>T (p.Pro27=)
|
rs1271272185
|
|
|
NM_001382391.1(CSPP1):c.843A>C (p.Glu281Asp)
|
|
|
|
NM_001382391.1(CSPP1):c.844G>T (p.Val282Leu)
|
rs1812594373
|
|
|
NM_001382391.1(CSPP1):c.853G>T (p.Glu285Ter)
|
|
|
|
NM_001382391.1(CSPP1):c.870T>G (p.Phe290Leu)
|
rs1812598635
|
|
|
NM_001382391.1(CSPP1):c.873A>C (p.Arg291Ser)
|
|
|
|
NM_001382391.1(CSPP1):c.876T>C (p.Tyr292=)
|
rs2129545545
|
|
|
NM_001382391.1(CSPP1):c.881G>C (p.Ser294Thr)
|
rs761539830
|
|
|
NM_001382391.1(CSPP1):c.896G>A (p.Arg299Lys)
|
rs1339310127
|
|
|
NM_001382391.1(CSPP1):c.89T>C (p.Met30Thr)
|
rs1807452107
|
|
|
NM_001382391.1(CSPP1):c.8A>C (p.Asp3Ala)
|
rs1585833752
|
|
|
NM_001382391.1(CSPP1):c.903G>A (p.Ser301=)
|
|
|
|
NM_001382391.1(CSPP1):c.923+1G>C
|
rs863225194
|
|
|
NM_001382391.1(CSPP1):c.923+25_923+29del
|
rs2129545562
|
|
|
NM_001382391.1(CSPP1):c.923G>A (p.Arg308Lys)
|
rs2129545557
|
|
|
NM_001382391.1(CSPP1):c.930C>T (p.His310=)
|
|
|
|
NM_001382391.1(CSPP1):c.959T>C (p.Met320Thr)
|
|
|
|
NM_001382391.1(CSPP1):c.966_967delinsAA (p.His322_Asp323delinsGlnAsn)
|
|
|
|
NM_001382391.1(CSPP1):c.99+5A>G
|
|
|
|
NM_001382391.1(CSPP1):c.994A>G (p.Ile332Val)
|
rs1479905045
|
|
|
NM_015046.6(SETX):c.6848_6851delCAGA
|
|
|
|
NM_015046.7(SETX):c.1006G>A (p.Val336Ile)
|
|
|
|
NM_015046.7(SETX):c.1010+14A>C
|
|
|
|
NM_015046.7(SETX):c.1010+4_1010+7dup
|
rs1222378139
|
|
|
NM_015046.7(SETX):c.1011G>C (p.Arg337Ser)
|
|
|
|
NM_015046.7(SETX):c.1026G>A (p.Pro342=)
|
|
|
|
NM_015046.7(SETX):c.1034A>T (p.Tyr345Phe)
|
|
|
|
NM_015046.7(SETX):c.1099-13del
|
|
|
|
NM_015046.7(SETX):c.1099-17C>T
|
|
|
|
NM_015046.7(SETX):c.1146G>A (p.Met382Ile)
|
|
|
|
NM_015046.7(SETX):c.1153G>A (p.Glu385Lys)
|
rs1554821963
|
|
|
NM_015046.7(SETX):c.1166T>C (p.Leu389Ser)
|
rs29001584
|
|
|
NM_015046.7(SETX):c.1173T>C (p.Ser391=)
|
|
|
|
NM_015046.7(SETX):c.1260T>C (p.Asp420=)
|
rs2131462924
|
|
|
NM_015046.7(SETX):c.12TTG[1] (p.Cys5del)
|
rs774123592
|
|
|
NM_015046.7(SETX):c.1330C>T (p.Leu444Phe)
|
|
|
|
NM_015046.7(SETX):c.1338A>G (p.Gln446=)
|
|
|
|
NM_015046.7(SETX):c.1343A>C (p.Asp448Ala)
|
rs370363342
|
|
|
NM_015046.7(SETX):c.135T>A (p.Ala45=)
|
|
|
|
NM_015046.7(SETX):c.1391_1392inv (p.Ser464Leu)
|
|
|
|
NM_015046.7(SETX):c.1392A>T (p.Ser464=)
|
|
|
|
NM_015046.7(SETX):c.1397T>G (p.Ile466Ser)
|
rs2131461800
|
|
|
NM_015046.7(SETX):c.1419A>T (p.Lys473Asn)
|
|
|
|
NM_015046.7(SETX):c.1421G>A (p.Cys474Tyr)
|
rs754200234
|
|
|
NM_015046.7(SETX):c.1423T>C (p.Leu475=)
|
|
|
|
NM_015046.7(SETX):c.1427_1432del (p.His476_Leu477del)
|
rs777314512
|
|
|
NM_015046.7(SETX):c.1443T>C (p.Ser481=)
|
|
|
|
NM_015046.7(SETX):c.1484T>C (p.Leu495Pro)
|
rs2131461009
|
|
|
NM_015046.7(SETX):c.1496C>T (p.Ala499Val)
|
|
|
|
NM_015046.7(SETX):c.14G>C (p.Cys5Ser)
|
rs1589791895
|
|
|
NM_015046.7(SETX):c.152G>A (p.Arg51Lys)
|
rs777256092
|
|
|
NM_015046.7(SETX):c.1535C>G (p.Ser512Cys)
|
|
|
|
NM_015046.7(SETX):c.1536C>T (p.Ser512=)
|
rs2131460559
|
|
|
NM_015046.7(SETX):c.1541G>C (p.Gly514Ala)
|
|
|
|
NM_015046.7(SETX):c.1544C>T (p.Thr515Ile)
|
|
|
|
NM_015046.7(SETX):c.1549A>G (p.Met517Val)
|
|
|
|
NM_015046.7(SETX):c.1573T>G (p.Ser525Ala)
|
rs2131460183
|
|
|
NM_015046.7(SETX):c.1576A>G (p.Met526Val)
|
rs762013471
|
|
|
NM_015046.7(SETX):c.1583C>T (p.Ser528Phe)
|
|
|
|
NM_015046.7(SETX):c.1585A>G (p.Asn529Asp)
|
rs1847120441
|
|
|
NM_015046.7(SETX):c.1590T>C (p.Ser530=)
|
|
|
|
NM_015046.7(SETX):c.159A>G (p.Glu53=)
|
rs2131575185
|
|
|
NM_015046.7(SETX):c.160T>C (p.Leu54=)
|
|
|
|
NM_015046.7(SETX):c.1617T>A (p.Ile539=)
|
|
|
|
NM_015046.7(SETX):c.162G>A (p.Leu54=)
|
rs1175429740
|
|
|
NM_015046.7(SETX):c.1655A>C (p.Gln552Pro)
|
|
|
|
NM_015046.7(SETX):c.1667A>G (p.Lys556Arg)
|
|
|
|
NM_015046.7(SETX):c.1668G>A (p.Lys556=)
|
rs1328865930
|
|
|
NM_015046.7(SETX):c.1732A>G (p.Ser578Gly)
|
rs770280073
|
|
|
NM_015046.7(SETX):c.173A>G (p.His58Arg)
|
|
|
|
NM_015046.7(SETX):c.174T>C (p.His58=)
|
rs1470975448
|
|
|
NM_015046.7(SETX):c.177+6A>G
|
rs2131575018
|
|
|
NM_015046.7(SETX):c.1771A>G (p.Ile591Val)
|
|
|
|
NM_015046.7(SETX):c.178-19C>T
|
|
|
|
NM_015046.7(SETX):c.1783A>G (p.Ile595Val)
|
|
|
|
NM_015046.7(SETX):c.1784T>A (p.Ile595Lys)
|
|
|
|
NM_015046.7(SETX):c.1795G>A (p.Ala599Thr)
|
|
|
|
NM_015046.7(SETX):c.1841T>C (p.Ile614Thr)
|
|
|
|
NM_015046.7(SETX):c.1844C>T (p.Ser615Phe)
|
rs143340285
|
|
|
NM_015046.7(SETX):c.1880T>A (p.Met627Lys)
|
|
|
|
NM_015046.7(SETX):c.1886A>C (p.Lys629Thr)
|
rs768673354
|
|
|
NM_015046.7(SETX):c.1890G>A (p.Thr630=)
|
|
|
|
NM_015046.7(SETX):c.1910G>A (p.Cys637Tyr)
|
|
|
|
NM_015046.7(SETX):c.1919C>A (p.Ala640Asp)
|
rs998278975
|
|
|
NM_015046.7(SETX):c.1919C>G (p.Ala640Gly)
|
|
|
|
NM_015046.7(SETX):c.1932A>G (p.Thr644=)
|
|
|
|
NM_015046.7(SETX):c.1942_1944del (p.Glu648del)
|
|
|
|
NM_015046.7(SETX):c.1948A>G (p.Met650Val)
|
|
|
|
NM_015046.7(SETX):c.1964G>C (p.Ser655Thr)
|
|
|
|
NM_015046.7(SETX):c.1966G>A (p.Val656Ile)
|
|
|
|
NM_015046.7(SETX):c.197C>T (p.Thr66Ile)
|
|
|
|
NM_015046.7(SETX):c.1986C>T (p.Asn662=)
|
rs1307680734
|
|
|
NM_015046.7(SETX):c.1988C>T (p.Thr663Ile)
|
|
|
|
NM_015046.7(SETX):c.1991T>C (p.Ile664Thr)
|
|
|
|
NM_015046.7(SETX):c.1993G>A (p.Glu665Lys)
|
rs1339144218
|
|
|
NM_015046.7(SETX):c.1996G>C (p.Gly666Arg)
|
|
|
|
NM_015046.7(SETX):c.1999G>A (p.Asp667Asn)
|
|
|
|
NM_015046.7(SETX):c.199T>C (p.Leu67=)
|
rs2131558600
|
|
|
NM_015046.7(SETX):c.2037A>G (p.Leu679=)
|
rs1432462823
|
|
|
NM_015046.7(SETX):c.2057G>T (p.Gly686Val)
|
|
|
|
NM_015046.7(SETX):c.207C>G (p.Leu69=)
|
|
|
|
NM_015046.7(SETX):c.2096A>G (p.Glu699Gly)
|
|
|
|
NM_015046.7(SETX):c.2123G>T (p.Ser708Ile)
|
rs1554821571
|
|
|
NM_015046.7(SETX):c.2124T>G (p.Ser708Arg)
|
|
|
|
NM_015046.7(SETX):c.2133G>A (p.Lys711=)
|
rs746772505
|
|
|
NM_015046.7(SETX):c.2154C>A (p.Ile718=)
|
|
|
|
NM_015046.7(SETX):c.2160A>C (p.Ser720=)
|
|
|
|
NM_015046.7(SETX):c.2177G>A (p.Cys726Tyr)
|
|
|
|
NM_015046.7(SETX):c.2190T>C (p.Asn730=)
|
|
|
|
NM_015046.7(SETX):c.2200A>G (p.Arg734Gly)
|
rs2131454695
|
|
|
NM_015046.7(SETX):c.2232A>C (p.Thr744=)
|
rs749481788
|
|
|
NM_015046.7(SETX):c.2241G>C (p.Leu747Phe)
|
|
|
|
NM_015046.7(SETX):c.2267A>T (p.Glu756Val)
|
rs202036078
|
|
|
NM_015046.7(SETX):c.2284A>T (p.Asn762Tyr)
|
|
|
|
NM_015046.7(SETX):c.2303A>T (p.Lys768Met)
|
rs1554821462
|
|
|
NM_015046.7(SETX):c.2311G>C (p.Ala771Pro)
|
|
|
|
NM_015046.7(SETX):c.2316T>C (p.Leu772=)
|
|
|
|
NM_015046.7(SETX):c.2320A>G (p.Lys774Glu)
|
rs2131453786
|
|
|
NM_015046.7(SETX):c.2339C>T (p.Thr780Ile)
|
rs1554821445
|
|
|
NM_015046.7(SETX):c.2364T>G (p.Cys788Trp)
|
|
|
|
NM_015046.7(SETX):c.2380G>A (p.Val794Ile)
|
|
|
|
NM_015046.7(SETX):c.2387_2390del (p.Lys796fs)
|
rs745775419
|
|
|
NM_015046.7(SETX):c.23C>T (p.Thr8Met)
|
rs1057520367
|
|
|
NM_015046.7(SETX):c.2415C>T (p.Val805=)
|
|
|
|
NM_015046.7(SETX):c.2416G>A (p.Asp806Asn)
|
|
|
|
NM_015046.7(SETX):c.241A>G (p.Ile81Val)
|
|
|
|
NM_015046.7(SETX):c.2426T>C (p.Ile809Thr)
|
|
|
|
NM_015046.7(SETX):c.2443T>A (p.Leu815Met)
|
|
|
|
NM_015046.7(SETX):c.2445G>T (p.Leu815Phe)
|
|
|
|
NM_015046.7(SETX):c.2471A>G (p.Tyr824Cys)
|
rs544815791
|
|
|
NM_015046.7(SETX):c.2483A>C (p.Asp828Ala)
|
|
|
|
NM_015046.7(SETX):c.24G>A (p.Thr8=)
|
|
|
|
NM_015046.7(SETX):c.2516A>T (p.His839Leu)
|
rs1847047743
|
|
|
NM_015046.7(SETX):c.2520T>C (p.Asn840=)
|
|
|
|
NM_015046.7(SETX):c.2533C>T (p.Pro845Ser)
|
rs1847046317
|
|
|
NM_015046.7(SETX):c.2536A>C (p.Ser846Arg)
|
rs774820992
|
|
|
NM_015046.7(SETX):c.2536A>G (p.Ser846Gly)
|
|
|
|
NM_015046.7(SETX):c.2580C>A (p.Asn860Lys)
|
|
|
|
NM_015046.7(SETX):c.2582A>G (p.Asn861Ser)
|
|
|
|
NM_015046.7(SETX):c.2591C>T (p.Pro864Leu)
|
|
|
|
NM_015046.7(SETX):c.25C>T (p.Pro9Ser)
|
|
|
|
NM_015046.7(SETX):c.2612A>G (p.Asn871Ser)
|
|
|
|
NM_015046.7(SETX):c.2622A>C (p.Leu874Phe)
|
|
|
|
NM_015046.7(SETX):c.2635T>C (p.Phe879Leu)
|
rs2131450530
|
|
|
NM_015046.7(SETX):c.2641G>A (p.Glu881Lys)
|
|
|
|
NM_015046.7(SETX):c.2646C>T (p.Asn882=)
|
|
|
|
NM_015046.7(SETX):c.2648A>G (p.Asn883Ser)
|
|
|
|
NM_015046.7(SETX):c.2668C>T (p.His890Tyr)
|
|
|
|
NM_015046.7(SETX):c.267A>C (p.Ile89=)
|
|
|
|
NM_015046.7(SETX):c.2721GAA[1] (p.Lys909del)
|
|
|
|
NM_015046.7(SETX):c.2729C>T (p.Ser910Leu)
|
|
|
|
NM_015046.7(SETX):c.273C>T (p.Asp91=)
|
|
|
|
NM_015046.7(SETX):c.2773GAG[1] (p.Glu926del)
|
|
|
|
NM_015046.7(SETX):c.2783G>A (p.Ser928Asn)
|
rs1258279869
|
|
|
NM_015046.7(SETX):c.2827G>C (p.Ala943Pro)
|
|
|
|
NM_015046.7(SETX):c.2830C>G (p.Pro944Ala)
|
|
|
|
NM_015046.7(SETX):c.2842C>T (p.Pro948Ser)
|
rs778882347
|
|
|
NM_015046.7(SETX):c.2849C>A (p.Ser950Tyr)
|
rs1847020598
|
|
|
NM_015046.7(SETX):c.2878A>G (p.Arg960Gly)
|
|
|
|
NM_015046.7(SETX):c.2887C>T (p.His963Tyr)
|
|
|
|
NM_015046.7(SETX):c.2895A>G (p.Leu965=)
|
|
|
|
NM_015046.7(SETX):c.2902C>T (p.Leu968=)
|
|
|
|
NM_015046.7(SETX):c.2907T>A (p.Ala969=)
|
|
|
|
NM_015046.7(SETX):c.2925G>C (p.Thr975=)
|
|
|
|
NM_015046.7(SETX):c.2958G>A (p.Gln986=)
|
rs969060686
|
|
|
NM_015046.7(SETX):c.2964A>G (p.Gln988=)
|
|
|
|
NM_015046.7(SETX):c.2972T>C (p.Val991Ala)
|
|
|
|
NM_015046.7(SETX):c.2988A>G (p.Arg996=)
|
rs1358681495
|
|
|
NM_015046.7(SETX):c.2990G>A (p.Cys997Tyr)
|
|
|
|
NM_015046.7(SETX):c.3018A>T (p.Gly1006=)
|
|
|
|
NM_015046.7(SETX):c.3026C>T (p.Ser1009Phe)
|
|
|
|
NM_015046.7(SETX):c.3027C>T (p.Ser1009=)
|
|
|
|
NM_015046.7(SETX):c.3037_3039del (p.Val1013del)
|
|
|
|
NM_015046.7(SETX):c.3040ATT[2] (p.Ile1016del)
|
rs765663814
|
|
|
NM_015046.7(SETX):c.3053A>G (p.Asp1018Gly)
|
rs768510428
|
|
|
NM_015046.7(SETX):c.3057TGA[4] (p.Asp1023_Asp1024del)
|
rs572772837
|
|
|
NM_015046.7(SETX):c.3057TGA[5] (p.Asp1024del)
|
rs572772837
|
|
|
NM_015046.7(SETX):c.3057TGA[7] (p.Asp1024dup)
|
rs572772837
|
|
|
NM_015046.7(SETX):c.3064G>A (p.Asp1022Asn)
|
|
|
|
NM_015046.7(SETX):c.3079_3080insAGG (p.Ile1027delinsLysVal)
|
|
|
|
NM_015046.7(SETX):c.3098T>C (p.Leu1033Pro)
|
|
|
|
NM_015046.7(SETX):c.3161A>C (p.Asn1054Thr)
|
|
|
|
NM_015046.7(SETX):c.3162_3167del (p.Asn1054_Ser1055del)
|
rs576141809
|
|
|
NM_015046.7(SETX):c.3181C>G (p.Pro1061Ala)
|
|
|
|
NM_015046.7(SETX):c.3181C>T (p.Pro1061Ser)
|
|
|
|
NM_015046.7(SETX):c.3187A>G (p.Lys1063Glu)
|
|
|
|
NM_015046.7(SETX):c.3199A>C (p.Thr1067Pro)
|
|
|
|
NM_015046.7(SETX):c.3208C>G (p.Leu1070Val)
|
rs931570379
|
|
|
NM_015046.7(SETX):c.3215A>G (p.Gln1072Arg)
|
|
|
|
NM_015046.7(SETX):c.3265G>A (p.Val1089Met)
|
rs917637229
|
|
|
NM_015046.7(SETX):c.3269T>G (p.Phe1090Cys)
|
|
|
|
NM_015046.7(SETX):c.3279G>T (p.Trp1093Cys)
|
|
|
|
NM_015046.7(SETX):c.3281A>G (p.Gln1094Arg)
|
|
|
|
NM_015046.7(SETX):c.3288_3291del (p.His1096fs)
|
|
|
|
NM_015046.7(SETX):c.3299A>G (p.Asn1100Ser)
|
rs545072717
|
|
|
NM_015046.7(SETX):c.331C>T (p.Arg111Ter)
|
|
|
|
NM_015046.7(SETX):c.3350C>T (p.Thr1117Ile)
|
rs1564541749
|
|
|
NM_015046.7(SETX):c.3359G>A (p.Gly1120Asp)
|
rs1278965355
|
|
|
NM_015046.7(SETX):c.3370A>G (p.Thr1124Ala)
|
rs866546546
|
|
|
NM_015046.7(SETX):c.3376T>G (p.Tyr1126Asp)
|
rs907569728
|
|
|
NM_015046.7(SETX):c.3399A>T (p.Lys1133Asn)
|
|
|
|
NM_015046.7(SETX):c.33T>C (p.Gly11=)
|
rs1243832257
|
|
|
NM_015046.7(SETX):c.3417A>C (p.Glu1139Asp)
|
|
|
|
NM_015046.7(SETX):c.3422A>T (p.His1141Leu)
|
rs1554820904
|
|
|
NM_015046.7(SETX):c.3424A>G (p.Thr1142Ala)
|
|
|
|
NM_015046.7(SETX):c.3429A>T (p.Arg1143Ser)
|
|
|
|
NM_015046.7(SETX):c.3469G>T (p.Val1157Leu)
|
rs748505684
|
|
|
NM_015046.7(SETX):c.3491G>A (p.Arg1164Gln)
|
|
|
|
NM_015046.7(SETX):c.34G>T (p.Ala12Ser)
|
|
|
|
NM_015046.7(SETX):c.3515A>G (p.Asp1172Gly)
|
|
|
|
NM_015046.7(SETX):c.3517C>G (p.Pro1173Ala)
|
rs141996565
|
|
|
NM_015046.7(SETX):c.3532TCT[1] (p.Ser1179del)
|
|
|
|
NM_015046.7(SETX):c.3544A>T (p.Asn1182Tyr)
|
rs1846954116
|
|
|
NM_015046.7(SETX):c.3567T>C (p.Asn1189=)
|
|
|
|
NM_015046.7(SETX):c.3589G>A (p.Asp1197Asn)
|
rs149558692
|
|
|
NM_015046.7(SETX):c.3589G>T (p.Asp1197Tyr)
|
|
|
|
NM_015046.7(SETX):c.3598A>T (p.Ser1200Cys)
|
|
|
|
NM_015046.7(SETX):c.3607A>G (p.Arg1203Gly)
|
|
|
|
NM_015046.7(SETX):c.3620C>G (p.Thr1207Ser)
|
|
|
|
NM_015046.7(SETX):c.3632G>A (p.Arg1211His)
|
|
|
|
NM_015046.7(SETX):c.3649A>G (p.Thr1217Ala)
|
rs1846942479
|
|
|
NM_015046.7(SETX):c.3651G>A (p.Thr1217=)
|
rs111419285
|
|
|
NM_015046.7(SETX):c.3651G>T (p.Thr1217=)
|
rs111419285
|
|
|
NM_015046.7(SETX):c.3661AAG[1] (p.Lys1222del)
|
rs1238089698
|
|
|
NM_015046.7(SETX):c.3674A>T (p.Lys1225Met)
|
|
|
|
NM_015046.7(SETX):c.3676C>T (p.Leu1226Phe)
|
rs2131440671
|
|
|
NM_015046.7(SETX):c.3681T>A (p.Cys1227Ter)
|
rs2131440608
|
|
|
NM_015046.7(SETX):c.3699C>T (p.Ile1233=)
|
|
|
|
NM_015046.7(SETX):c.3700A>G (p.Arg1234Gly)
|
|
|
|
NM_015046.7(SETX):c.3706G>A (p.Val1236Ile)
|
|
|
|
NM_015046.7(SETX):c.3727A>G (p.Lys1243Glu)
|
|
|
|
NM_015046.7(SETX):c.3728A>G (p.Lys1243Arg)
|
rs1467137301
|
|
|
NM_015046.7(SETX):c.3732A>G (p.Lys1244=)
|
|
|
|
NM_015046.7(SETX):c.3737A>C (p.His1246Pro)
|
rs2131440106
|
|
|
NM_015046.7(SETX):c.3761A>C (p.Asn1254Thr)
|
|
|
|
NM_015046.7(SETX):c.3796_3798del (p.Pro1266del)
|
rs2131439346
|
|
|
NM_015046.7(SETX):c.3816G>T (p.Lys1272Asn)
|
|
|
|
NM_015046.7(SETX):c.3819A>G (p.Lys1273=)
|
|
|
|
NM_015046.7(SETX):c.387_388+2del
|
|
|
|
NM_015046.7(SETX):c.388+19C>G
|
|
|
|
NM_015046.7(SETX):c.388+19C>T
|
|
|
|
NM_015046.7(SETX):c.388+8T>G
|
|
|
|
NM_015046.7(SETX):c.3881G>A (p.Arg1294His)
|
|
|
|
NM_015046.7(SETX):c.389-20A>C
|
rs1848060275
|
|
|
NM_015046.7(SETX):c.389-7T>C
|
|
|
|
NM_015046.7(SETX):c.389-8_389-6del
|
|
|
|
NM_015046.7(SETX):c.389-9del
|
rs534931548
|
|
|
NM_015046.7(SETX):c.3890A>T (p.Tyr1297Phe)
|
|
|
|
NM_015046.7(SETX):c.3930A>C (p.Leu1310Phe)
|
|
|
|
NM_015046.7(SETX):c.3942C>T (p.Gly1314=)
|
|
|
|
NM_015046.7(SETX):c.3945A>G (p.Lys1315=)
|
|
|
|
NM_015046.7(SETX):c.3950T>C (p.Val1317Ala)
|
rs1564539968
|
|
|
NM_015046.7(SETX):c.3966C>T (p.Thr1322=)
|
|
|
|
NM_015046.7(SETX):c.3989C>T (p.Ser1330Phe)
|
|
|
|
NM_015046.7(SETX):c.3989CTC[1] (p.Pro1331del)
|
|
|
|
NM_015046.7(SETX):c.3991C>T (p.Pro1331Ser)
|
|
|
|
NM_015046.7(SETX):c.4020_4022del (p.Lys1341del)
|
rs769558791
|
|
|
NM_015046.7(SETX):c.4031C>G (p.Thr1344Ser)
|
|
|
|
NM_015046.7(SETX):c.4071A>G (p.Lys1357=)
|
|
|
|
NM_015046.7(SETX):c.407C>T (p.Ala136Val)
|
|
|
|
NM_015046.7(SETX):c.4090_4092del (p.Arg1364del)
|
|
|
|
NM_015046.7(SETX):c.4093C>T (p.Leu1365Phe)
|
|
|
|
NM_015046.7(SETX):c.4103G>T (p.Cys1368Phe)
|
rs1445388214
|
|
|
NM_015046.7(SETX):c.4145A>G (p.Gln1382Arg)
|
|
|
|
NM_015046.7(SETX):c.4181C>T (p.Ser1394Leu)
|
|
|
|
NM_015046.7(SETX):c.4187A>G (p.Tyr1396Cys)
|
|
|
|
NM_015046.7(SETX):c.4210G>A (p.Val1404Ile)
|
|
|
|
NM_015046.7(SETX):c.4222A>G (p.Ser1408Gly)
|
|
|
|
NM_015046.7(SETX):c.4259A>G (p.Glu1420Gly)
|
|
|
|
NM_015046.7(SETX):c.4316T>C (p.Leu1439Ser)
|
rs1589737441
|
|
|
NM_015046.7(SETX):c.4325G>A (p.Cys1442Tyr)
|
|
|
|
NM_015046.7(SETX):c.4327G>A (p.Asp1443Asn)
|
|
|
|
NM_015046.7(SETX):c.4336G>T (p.Val1446Leu)
|
rs1477696040
|
|
|
NM_015046.7(SETX):c.4352T>A (p.Val1451Glu)
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|
|
NM_015046.7(SETX):c.4373T>C (p.Val1458Ala)
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|
NM_015046.7(SETX):c.4374C>T (p.Val1458=)
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|
NM_015046.7(SETX):c.4386A>G (p.Glu1462=)
|
rs1554820336
|
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|
NM_015046.7(SETX):c.43A>G (p.Ile15Val)
|
rs151040199
|
|
|
NM_015046.7(SETX):c.43A>T (p.Ile15Phe)
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|
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|
NM_015046.7(SETX):c.4412C>T (p.Thr1471Ile)
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|
|
|
NM_015046.7(SETX):c.4445A>G (p.Glu1482Gly)
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|
NM_015046.7(SETX):c.4468G>A (p.Asp1490Asn)
|
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|
|
NM_015046.7(SETX):c.4472C>G (p.Ala1491Gly)
|
|
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|
NM_015046.7(SETX):c.4476G>C (p.Glu1492Asp)
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|
NM_015046.7(SETX):c.4481A>G (p.Asp1494Gly)
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|
|
NM_015046.7(SETX):c.4500A>G (p.Gln1500=)
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|
NM_015046.7(SETX):c.4516A>G (p.Met1506Val)
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|
|
NM_015046.7(SETX):c.4517T>A (p.Met1506Lys)
|
rs199974622
|
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|
NM_015046.7(SETX):c.4517T>C (p.Met1506Thr)
|
rs199974622
|
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NM_015046.7(SETX):c.4547A>G (p.Asn1516Ser)
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|
NM_015046.7(SETX):c.4582A>G (p.Thr1528Ala)
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|
NM_015046.7(SETX):c.4585G>A (p.Val1529Ile)
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|
NM_015046.7(SETX):c.459T>C (p.His153=)
|
rs774939461
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NM_015046.7(SETX):c.4600G>A (p.Asp1534Asn)
|
rs746807833
|
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|
NM_015046.7(SETX):c.4601A>T (p.Asp1534Val)
|
rs1554820219
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NM_015046.7(SETX):c.4613G>A (p.Arg1538Gln)
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|
NM_015046.7(SETX):c.4624G>A (p.Glu1542Lys)
|
rs2131431252
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NM_015046.7(SETX):c.4641A>G (p.Thr1547=)
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|
NM_015046.7(SETX):c.4670C>G (p.Thr1557Ser)
|
rs1554820196
|
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|
NM_015046.7(SETX):c.4675A>G (p.Lys1559Glu)
|
rs776238150
|
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|
NM_015046.7(SETX):c.4679dup (p.Asn1560fs)
|
rs746973259
|
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|
NM_015046.7(SETX):c.470A>G (p.Tyr157Cys)
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|
NM_015046.7(SETX):c.4723G>T (p.Asp1575Tyr)
|
rs781383567
|
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|
NM_015046.7(SETX):c.474G>A (p.Leu158=)
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|
NM_015046.7(SETX):c.4753C>T (p.Pro1585Ser)
|
rs1846817047
|
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|
NM_015046.7(SETX):c.4753CCT[2] (p.Pro1587del)
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|
NM_015046.7(SETX):c.4816C>T (p.Arg1606Ter)
|
rs759213174
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NM_015046.7(SETX):c.4838C>A (p.Ser1613Tyr)
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|
NM_015046.7(SETX):c.4847C>T (p.Thr1616Ile)
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|
NM_015046.7(SETX):c.4848T>A (p.Thr1616=)
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|
NM_015046.7(SETX):c.4890dup (p.Ile1631fs)
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|
NM_015046.7(SETX):c.4899G>A (p.Ser1633=)
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|
NM_015046.7(SETX):c.4916A>G (p.Gln1639Arg)
|
rs150918808
|
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|
NM_015046.7(SETX):c.4919C>T (p.Pro1640Leu)
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|
NM_015046.7(SETX):c.4924C>A (p.Pro1642Thr)
|
rs375942182
|
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|
NM_015046.7(SETX):c.4924_4947del (p.Pro1642_Val1649del)
|
|
|
|
NM_015046.7(SETX):c.4927C>T (p.Leu1643Phe)
|
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|
NM_015046.7(SETX):c.4934C>G (p.Ala1645Gly)
|
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|
|
NM_015046.7(SETX):c.4945G>T (p.Val1649Phe)
|
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|
|
NM_015046.7(SETX):c.4961A>G (p.Asn1654Ser)
|
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|
|
NM_015046.7(SETX):c.4972G>A (p.Val1658Ile)
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|
|
NM_015046.7(SETX):c.4978C>T (p.His1660Tyr)
|
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|
|
NM_015046.7(SETX):c.498+10A>G
|
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|
NM_015046.7(SETX):c.498+8dup
|
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|
NM_015046.7(SETX):c.499-13_499-8dup
|
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|
NM_015046.7(SETX):c.499-18_499-15del
|
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|
NM_015046.7(SETX):c.499-8G>T
|
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|
|
NM_015046.7(SETX):c.4991C>T (p.Pro1664Leu)
|
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|
|
NM_015046.7(SETX):c.4992G>A (p.Pro1664=)
|
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|
|
NM_015046.7(SETX):c.5003A>G (p.Asn1668Ser)
|
|
|
|
NM_015046.7(SETX):c.5006G>A (p.Arg1669Lys)
|
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|
|
NM_015046.7(SETX):c.5011G>A (p.Gly1671Ser)
|
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|
|
NM_015046.7(SETX):c.5019del (p.Val1674fs)
|
|
|
|
NM_015046.7(SETX):c.502C>T (p.Arg168Trp)
|
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|
|
NM_015046.7(SETX):c.5059C>G (p.Pro1687Ala)
|
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|
|
NM_015046.7(SETX):c.5083C>T (p.Gln1695Ter)
|
rs1589734405
|
|
|
NM_015046.7(SETX):c.5097C>T (p.Asp1699=)
|
rs1163054039
|
|
|
NM_015046.7(SETX):c.5099C>T (p.Thr1700Ile)
|
|
|
|
NM_015046.7(SETX):c.5148T>C (p.Phe1716=)
|
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|
|
NM_015046.7(SETX):c.5159G>C (p.Gly1720Ala)
|
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|
|
NM_015046.7(SETX):c.5160G>T (p.Gly1720=)
|
rs763408913
|
|
|
NM_015046.7(SETX):c.5196T>C (p.Pro1732=)
|
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|
|
NM_015046.7(SETX):c.5199G>A (p.Val1733=)
|
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|
NM_015046.7(SETX):c.5211T>G (p.Phe1737Leu)
|
rs1846757741
|
|
|
NM_015046.7(SETX):c.5263A>G (p.Thr1755Ala)
|
|
|
|
NM_015046.7(SETX):c.5264del (p.Thr1755fs)
|
rs776632212
|
|
|
NM_015046.7(SETX):c.5275-14del
|
rs761232500
|
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|
NM_015046.7(SETX):c.528A>G (p.Arg176=)
|
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|
|
NM_015046.7(SETX):c.5308_5311del (p.Glu1770fs)
|
rs750959420
|
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|
NM_015046.7(SETX):c.5309A>G (p.Glu1770Gly)
|
|
|
|
NM_015046.7(SETX):c.5333G>A (p.Arg1778Gln)
|
|
|
|
NM_015046.7(SETX):c.5339T>A (p.Phe1780Tyr)
|
|
|
|
NM_015046.7(SETX):c.5362T>C (p.Trp1788Arg)
|
|
|
|
NM_015046.7(SETX):c.5362T>G (p.Trp1788Gly)
|
|
|
|
NM_015046.7(SETX):c.5374+20A>G
|
|
|
|
NM_015046.7(SETX):c.5375-18CTT[2]
|
rs201317659
|
|
|
NM_015046.7(SETX):c.5375-20G>T
|
|
|
|
NM_015046.7(SETX):c.5375-9G>A
|
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|
|
NM_015046.7(SETX):c.5375-9G>C
|
rs1239409311
|
|
|
NM_015046.7(SETX):c.5378A>T (p.Tyr1793Phe)
|
|
|
|
NM_015046.7(SETX):c.5385A>C (p.Glu1795Asp)
|
|
|
|
NM_015046.7(SETX):c.5398G>A (p.Ala1800Thr)
|
|
|
|
NM_015046.7(SETX):c.5400T>C (p.Ala1800=)
|
|
|
|
NM_015046.7(SETX):c.5427T>G (p.Asp1809Glu)
|
|
|
|
NM_015046.7(SETX):c.5443C>G (p.Pro1815Ala)
|
|
|
|
NM_015046.7(SETX):c.5453T>C (p.Ile1818Thr)
|
|
|
|
NM_015046.7(SETX):c.5488A>C (p.Ile1830Leu)
|
|
|
|
NM_015046.7(SETX):c.5491C>G (p.Gln1831Glu)
|
rs2131306081
|
|
|
NM_015046.7(SETX):c.5505A>G (p.Glu1835=)
|
rs2131305953
|
|
|
NM_015046.7(SETX):c.5538C>G (p.Arg1846=)
|
|
|
|
NM_015046.7(SETX):c.5549-5G>A
|
|
|
|
NM_015046.7(SETX):c.5549-6T>C
|
|
|
|
NM_015046.7(SETX):c.5587A>T (p.Thr1863Ser)
|
|
|
|
NM_015046.7(SETX):c.5604G>A (p.Pro1868=)
|
rs373607369
|
|
|
NM_015046.7(SETX):c.5609A>G (p.Asn1870Ser)
|
|
|
|
NM_015046.7(SETX):c.5627A>G (p.Asn1876Ser)
|
|
|
|
NM_015046.7(SETX):c.5637A>T (p.Val1879=)
|
rs2131295454
|
|
|
NM_015046.7(SETX):c.5638A>G (p.Ile1880Val)
|
|
|
|
NM_015046.7(SETX):c.567A>G (p.Leu189=)
|
|
|
|
NM_015046.7(SETX):c.5696G>C (p.Arg1899Pro)
|
|
|
|
NM_015046.7(SETX):c.5754T>A (p.Asp1918Glu)
|
|
|
|
NM_015046.7(SETX):c.5754T>C (p.Asp1918=)
|
|
|
|
NM_015046.7(SETX):c.5761A>C (p.Thr1921Pro)
|
rs1844774142
|
|
|
NM_015046.7(SETX):c.5781+7G>A
|
|
|
|
NM_015046.7(SETX):c.5803A>G (p.Asn1935Asp)
|
rs1443102808
|
|
|
NM_015046.7(SETX):c.5824A>G (p.Ile1942Val)
|
|
|
|
NM_015046.7(SETX):c.5835A>G (p.Ala1945=)
|
rs1298267771
|
|
|
NM_015046.7(SETX):c.5852A>T (p.His1951Leu)
|
|
|
|
NM_015046.7(SETX):c.5858C>T (p.Pro1953Leu)
|
|
|
|
NM_015046.7(SETX):c.5893C>T (p.Pro1965Ser)
|
|
|
|
NM_015046.7(SETX):c.589T>A (p.Phe197Ile)
|
rs1847622210
|
|
|
NM_015046.7(SETX):c.590T>C (p.Phe197Ser)
|
rs1847622037
|
|
|
NM_015046.7(SETX):c.592A>G (p.Lys198Glu)
|
|
|
|
NM_015046.7(SETX):c.5936G>C (p.Arg1979Pro)
|
rs761031238
|
|
|
NM_015046.7(SETX):c.5949+13G>A
|
|
|
|
NM_015046.7(SETX):c.5949+13G>T
|
rs2131289221
|
|
|
NM_015046.7(SETX):c.5949+4_5949+7del
|
rs1844702677
|
|
|
NM_015046.7(SETX):c.5949G>A (p.Glu1983=)
|
rs2131289331
|
|
|
NM_015046.7(SETX):c.5950-11G>A
|
|
|
|
NM_015046.7(SETX):c.5950-20G>A
|
|
|
|
NM_015046.7(SETX):c.5950-4G>A
|
|
|
|
NM_015046.7(SETX):c.5950-5T>C
|
|
|
|
NM_015046.7(SETX):c.5964G>A (p.Gly1988=)
|
rs775658101
|
|
|
NM_015046.7(SETX):c.5986G>T (p.Ala1996Ser)
|
rs2131284986
|
|
|
NM_015046.7(SETX):c.5994C>T (p.Ile1998=)
|
|
|
|
NM_015046.7(SETX):c.6021A>G (p.Ala2007=)
|
|
|
|
NM_015046.7(SETX):c.6037G>A (p.Val2013Ile)
|
|
|
|
NM_015046.7(SETX):c.6106+8dup
|
|
|
|
NM_015046.7(SETX):c.6107-19C>T
|
|
|
|
NM_015046.7(SETX):c.6107-3C>T
|
|
|
|
NM_015046.7(SETX):c.6136C>T (p.Leu2046=)
|
|
|
|
NM_015046.7(SETX):c.6139G>T (p.Gly2047Cys)
|
rs762479596
|
|
|
NM_015046.7(SETX):c.6150G>A (p.Lys2050=)
|
|
|
|
NM_015046.7(SETX):c.6159T>C (p.Asn2053=)
|
rs2131248104
|
|
|
NM_015046.7(SETX):c.617A>C (p.Glu206Ala)
|
rs759880306
|
|
|
NM_015046.7(SETX):c.6181T>A (p.Leu2061Met)
|
rs2131247894
|
|
|
NM_015046.7(SETX):c.6208+17G>T
|
|
|
|
NM_015046.7(SETX):c.6208+2dup
|
|
|
|
NM_015046.7(SETX):c.6209-12T>G
|
|
|
|
NM_015046.7(SETX):c.6209-18_6209-15del
|
|
|
|
NM_015046.7(SETX):c.6209-19dup
|
|
|
|
NM_015046.7(SETX):c.6209-7_6209-6insG
|
rs2131246566
|
|
|
NM_015046.7(SETX):c.6227A>C (p.His2076Pro)
|
|
|
|
NM_015046.7(SETX):c.6236C>T (p.Ala2079Val)
|
|
|
|
NM_015046.7(SETX):c.6268C>T (p.Gln2090Ter)
|
rs1844047388
|
|
|
NM_015046.7(SETX):c.6282T>C (p.Leu2094=)
|
|
|
|
NM_015046.7(SETX):c.62A>G (p.Tyr21Cys)
|
|
|
|
NM_015046.7(SETX):c.6300A>G (p.Leu2100=)
|
|
|
|
NM_015046.7(SETX):c.6314G>A (p.Arg2105Gln)
|
|
|
|
NM_015046.7(SETX):c.6323A>C (p.Gln2108Pro)
|
|
|
|
NM_015046.7(SETX):c.6324+5C>G
|
|
|
|
NM_015046.7(SETX):c.6325-5dup
|
|
|
|
NM_015046.7(SETX):c.6338A>T (p.Asp2113Val)
|
rs1589647043
|
|
|
NM_015046.7(SETX):c.6341A>G (p.Glu2114Gly)
|
rs957607977
|
|
|
NM_015046.7(SETX):c.6384T>A (p.Ser2128=)
|
rs2131234628
|
|
|
NM_015046.7(SETX):c.6390T>C (p.Ile2130=)
|
rs2131234539
|
|
|
NM_015046.7(SETX):c.6397-17A>C
|
|
|
|
NM_015046.7(SETX):c.6397-20T>C
|
|
|
|
NM_015046.7(SETX):c.6422dup (p.Ser2142fs)
|
|
|
|
NM_015046.7(SETX):c.6439G>C (p.Glu2147Gln)
|
rs1387036733
|
|
|
NM_015046.7(SETX):c.6441G>A (p.Glu2147=)
|
|
|
|
NM_015046.7(SETX):c.6464T>G (p.Leu2155Trp)
|
rs1473613373
|
|
|
NM_015046.7(SETX):c.6486A>G (p.Leu2162=)
|
|
|
|
NM_015046.7(SETX):c.64G>T (p.Ala22Ser)
|
rs756600708
|
|
|
NM_015046.7(SETX):c.6502C>T (p.Arg2168Cys)
|
rs1843647719
|
|
|
NM_015046.7(SETX):c.6516T>G (p.Gly2172=)
|
|
|
|
NM_015046.7(SETX):c.6525C>T (p.Phe2175=)
|
|
|
|
NM_015046.7(SETX):c.6547-11A>G
|
|
|
|
NM_015046.7(SETX):c.6547-15del
|
|
|
|
NM_015046.7(SETX):c.6554A>T (p.Gln2185Leu)
|
rs1843510567
|
|
|
NM_015046.7(SETX):c.6578C>G (p.Thr2193Ser)
|
|
|
|
NM_015046.7(SETX):c.6605T>G (p.Leu2202Arg)
|
|
|
|
NM_015046.7(SETX):c.6610C>T (p.Leu2204=)
|
rs2131200445
|
|
|
NM_015046.7(SETX):c.6654+5G>A
|
rs1843497922
|
|
|
NM_015046.7(SETX):c.6654+9_6654+11del
|
|
|
|
NM_015046.7(SETX):c.6676G>A (p.Asp2226Asn)
|
|
|
|
NM_015046.7(SETX):c.667C>G (p.Leu223Val)
|
rs774068411
|
|
|
NM_015046.7(SETX):c.6683C>T (p.Ser2228Leu)
|
rs764541704
|
|
|
NM_015046.7(SETX):c.6685A>G (p.Met2229Val)
|
|
|
|
NM_015046.7(SETX):c.668T>A (p.Leu223His)
|
rs1211053963
|
|
|
NM_015046.7(SETX):c.6712G>A (p.Glu2238Lys)
|
rs2131182464
|
|
|
NM_015046.7(SETX):c.6733A>G (p.Met2245Val)
|
|
|
|
NM_015046.7(SETX):c.6756A>G (p.Leu2252=)
|
|
|
|
NM_015046.7(SETX):c.6764C>T (p.Thr2255Ile)
|
|
|
|
NM_015046.7(SETX):c.6790A>T (p.Ile2264Leu)
|
rs1843274414
|
|
|
NM_015046.7(SETX):c.6796C>G (p.Leu2266Val)
|
|
|
|
NM_015046.7(SETX):c.6808A>C (p.Asn2270His)
|
rs1843272035
|
|
|
NM_015046.7(SETX):c.6809A>G (p.Asn2270Ser)
|
|
|
|
NM_015046.7(SETX):c.6815T>C (p.Val2272Ala)
|
rs1843271572
|
|
|
NM_015046.7(SETX):c.682A>G (p.Met228Val)
|
|
|
|
NM_015046.7(SETX):c.6842+11dup
|
|
|
|
NM_015046.7(SETX):c.6842+15T>A
|
|
|
|
NM_015046.7(SETX):c.6842+19T>C
|
|
|
|
NM_015046.7(SETX):c.6842+1G>T
|
rs1038776365
|
|
|
NM_015046.7(SETX):c.6843-16dup
|
rs34769225
|
|
|
NM_015046.7(SETX):c.6843-3_6843-1del
|
rs1186690391
|
|
|
NM_015046.7(SETX):c.6843-4A>T
|
rs1466427179
|
|
|
NM_015046.7(SETX):c.6843-5del
|
rs34769225
|
|
|
NM_015046.7(SETX):c.6843-6_6843-5dup
|
rs34769225
|
|
|
NM_015046.7(SETX):c.6849A>G (p.Thr2283=)
|
|
|
|
NM_015046.7(SETX):c.6853G>A (p.Ala2285Thr)
|
|
|
|
NM_015046.7(SETX):c.6879A>G (p.Pro2293=)
|
|
|
|
NM_015046.7(SETX):c.68C>T (p.Ser23Phe)
|
rs1323126988
|
|
|
NM_015046.7(SETX):c.6936-8T>A
|
|
|
|
NM_015046.7(SETX):c.6964C>G (p.Leu2322Val)
|
|
|
|
NM_015046.7(SETX):c.6967G>A (p.Val2323Met)
|
|
|
|
NM_015046.7(SETX):c.6996_7002del (p.Asp2332fs)
|
rs1362178149
|
|
|
NM_015046.7(SETX):c.7007A>T (p.Asp2336Val)
|
|
|
|
NM_015046.7(SETX):c.7041T>C (p.His2347=)
|
|
|
|
NM_015046.7(SETX):c.7059G>A (p.Thr2353=)
|
|
|
|
NM_015046.7(SETX):c.7074T>G (p.Asp2358Glu)
|
|
|
|
NM_015046.7(SETX):c.7079A>G (p.Asp2360Gly)
|
|
|
|
NM_015046.7(SETX):c.708C>T (p.Ser236=)
|
|
|
|
NM_015046.7(SETX):c.7090G>A (p.Asp2364Asn)
|
|
|
|
NM_015046.7(SETX):c.7100+19T>C
|
|
|
|
NM_015046.7(SETX):c.7100+2T>C
|
|
|
|
NM_015046.7(SETX):c.7100+3G>A
|
rs752203746
|
|
|
NM_015046.7(SETX):c.7100+7C>T
|
|
|
|
NM_015046.7(SETX):c.7101-16T>C
|
|
|
|
NM_015046.7(SETX):c.7131C>T (p.Phe2377=)
|
|
|
|
NM_015046.7(SETX):c.7146G>A (p.Lys2382=)
|
rs2131148463
|
|
|
NM_015046.7(SETX):c.7157T>C (p.Ile2386Thr)
|
rs201887051
|
|
|
NM_015046.7(SETX):c.7164G>A (p.Thr2388=)
|
rs368602563
|
|
|
NM_015046.7(SETX):c.7179T>C (p.Asn2393=)
|
|
|
|
NM_015046.7(SETX):c.718+11T>A
|
|
|
|
NM_015046.7(SETX):c.718+13C>T
|
|
|
|
NM_015046.7(SETX):c.718+16A>C
|
rs769647958
|
|
|
NM_015046.7(SETX):c.718+18A>C
|
rs773630853
|
|
|
NM_015046.7(SETX):c.718+3G>C
|
rs2131504173
|
|
|
NM_015046.7(SETX):c.719-17T>G
|
rs140720865
|
|
|
NM_015046.7(SETX):c.719-17dup
|
|
|
|
NM_015046.7(SETX):c.719-18C>T
|
|
|
|
NM_015046.7(SETX):c.7190G>A (p.Gly2397Asp)
|
rs2131148064
|
|
|
NM_015046.7(SETX):c.7195A>T (p.Ile2399Phe)
|
rs150489999
|
|
|
NM_015046.7(SETX):c.7199+14_7199+16del
|
|
|
|
NM_015046.7(SETX):c.7199+17G>T
|
rs768161524
|
|
|
NM_015046.7(SETX):c.7200-10dup
|
rs531485265
|
|
|
NM_015046.7(SETX):c.7200-11_7200-10del
|
rs531485265
|
|
|
NM_015046.7(SETX):c.7200-3T>C
|
|
|
|
NM_015046.7(SETX):c.7203C>T (p.Phe2401=)
|
|
|
|
NM_015046.7(SETX):c.7204C>G (p.Leu2402Val)
|
rs1402767850
|
|
|
NM_015046.7(SETX):c.7222T>C (p.Leu2408=)
|
|
|
|
NM_015046.7(SETX):c.7229T>C (p.Val2410Ala)
|
|
|
|
NM_015046.7(SETX):c.7234A>G (p.Ile2412Val)
|
|
|
|
NM_015046.7(SETX):c.7248G>A (p.Lys2416=)
|
|
|
|
NM_015046.7(SETX):c.7271A>G (p.His2424Arg)
|
|
|
|
NM_015046.7(SETX):c.727A>G (p.Met243Val)
|
|
|
|
NM_015046.7(SETX):c.7281C>G (p.Thr2427=)
|
rs1482971726
|
|
|
NM_015046.7(SETX):c.7288-14C>T
|
|
|
|
NM_015046.7(SETX):c.7339A>C (p.Ile2447Leu)
|
|
|
|
NM_015046.7(SETX):c.7361A>C (p.Asn2454Thr)
|
|
|
|
NM_015046.7(SETX):c.7366A>G (p.Arg2456Gly)
|
|
|
|
NM_015046.7(SETX):c.7370A>G (p.His2457Arg)
|
rs753051382
|
|
|
NM_015046.7(SETX):c.7396A>C (p.Lys2466Gln)
|
|
|
|
NM_015046.7(SETX):c.7427C>A (p.Pro2476His)
|
rs767515528
|
|
|
NM_015046.7(SETX):c.742C>T (p.Leu248Phe)
|
rs748358261
|
|
|
NM_015046.7(SETX):c.7433C>G (p.Thr2478Ser)
|
rs771027936
|
|
|
NM_015046.7(SETX):c.7444G>A (p.Glu2482Lys)
|
rs2131114345
|
|
|
NM_015046.7(SETX):c.7454G>A (p.Arg2485Lys)
|
|
|
|
NM_015046.7(SETX):c.7458C>G (p.Pro2486=)
|
rs2131114205
|
|
|
NM_015046.7(SETX):c.7461G>C (p.Gln2487His)
|
|
|
|
NM_015046.7(SETX):c.7482G>C (p.Lys2494Asn)
|
rs1564464193
|
|
|
NM_015046.7(SETX):c.7494A>C (p.Gly2498=)
|
rs1404779640
|
|
|
NM_015046.7(SETX):c.7508C>G (p.Ser2503Cys)
|
|
|
|
NM_015046.7(SETX):c.7516G>A (p.Ala2506Thr)
|
rs1160553456
|
|
|
NM_015046.7(SETX):c.7528C>T (p.His2510Tyr)
|
|
|
|
NM_015046.7(SETX):c.7530C>G (p.His2510Gln)
|
rs1303389955
|
|
|
NM_015046.7(SETX):c.7532C>T (p.Thr2511Ile)
|
|
|
|
NM_015046.7(SETX):c.7534C>T (p.Pro2512Ser)
|
rs557347174
|
|
|
NM_015046.7(SETX):c.7549G>A (p.Glu2517Lys)
|
|
|
|
NM_015046.7(SETX):c.7552A>G (p.Ile2518Val)
|
|
|
|
NM_015046.7(SETX):c.7568C>T (p.Thr2523Ile)
|
|
|
|
NM_015046.7(SETX):c.7582G>A (p.Glu2528Lys)
|
rs2131113325
|
|
|
NM_015046.7(SETX):c.7584A>C (p.Glu2528Asp)
|
rs2131113303
|
|
|
NM_015046.7(SETX):c.7585A>G (p.Arg2529Gly)
|
|
|
|
NM_015046.7(SETX):c.75T>G (p.Thr25=)
|
rs1589791526
|
|
|
NM_015046.7(SETX):c.7610A>G (p.Gln2537Arg)
|
rs2131113093
|
|
|
NM_015046.7(SETX):c.7634T>A (p.Met2545Lys)
|
|
|
|
NM_015046.7(SETX):c.7637del (p.Gly2546fs)
|
|
|
|
NM_015046.7(SETX):c.763T>A (p.Ser255Thr)
|
|
|
|
NM_015046.7(SETX):c.7641dup (p.Glu2548Ter)
|
rs1039417117
|
|
|
NM_015046.7(SETX):c.7660T>C (p.Phe2554Leu)
|
rs368269464
|
|
|
NM_015046.7(SETX):c.7667G>T (p.Trp2556Leu)
|
|
|
|
NM_015046.7(SETX):c.7680C>A (p.Pro2560=)
|
|
|
|
NM_015046.7(SETX):c.7708CCT[1] (p.Pro2571del)
|
rs770590408
|
|
|
NM_015046.7(SETX):c.7712C>G (p.Pro2571Arg)
|
|
|
|
NM_015046.7(SETX):c.7713T>C (p.Pro2571=)
|
rs2131112226
|
|
|
NM_015046.7(SETX):c.7716G>A (p.Thr2572=)
|
|
|
|
NM_015046.7(SETX):c.7725G>A (p.Pro2575=)
|
rs201695580
|
|
|
NM_015046.7(SETX):c.7725G>C (p.Pro2575=)
|
|
|
|
NM_015046.7(SETX):c.7735G>A (p.Val2579Ile)
|
rs144121978
|
|
|
NM_015046.7(SETX):c.7735G>T (p.Val2579Phe)
|
rs144121978
|
|
|
NM_015046.7(SETX):c.7736T>G (p.Val2579Gly)
|
rs2131112014
|
|
|
NM_015046.7(SETX):c.7749C>T (p.Asp2583=)
|
rs754701648
|
|
|
NM_015046.7(SETX):c.7750C>G (p.Leu2584Val)
|
|
|
|
NM_015046.7(SETX):c.7763A>G (p.Gln2588Arg)
|
|
|
|
NM_015046.7(SETX):c.7764G>A (p.Gln2588=)
|
|
|
|
NM_015046.7(SETX):c.7764_7765delinsTT (p.Gln2588_Gln2589delinsHisTer)
|
rs2131111712
|
|
|
NM_015046.7(SETX):c.7786G>T (p.Ala2596Ser)
|
|
|
|
NM_015046.7(SETX):c.7810G>A (p.Val2604Met)
|
rs757554863
|
|
|
NM_015046.7(SETX):c.7810G>T (p.Val2604Leu)
|
|
|
|
NM_015046.7(SETX):c.7813C>T (p.Arg2605Trp)
|
|
|
|
NM_015046.7(SETX):c.7840G>A (p.Glu2614Lys)
|
|
|
|
NM_015046.7(SETX):c.7843G>A (p.Ala2615Thr)
|
rs979454428
|
|
|
NM_015046.7(SETX):c.784A>G (p.Lys262Glu)
|
rs2131492208
|
|
|
NM_015046.7(SETX):c.7857G>A (p.Gln2619=)
|
|
|
|
NM_015046.7(SETX):c.785A>G (p.Lys262Arg)
|
rs770255148
|
|
|
NM_015046.7(SETX):c.7860C>A (p.Ser2620Arg)
|
rs778362262
|
|
|
NM_015046.7(SETX):c.7875G>A (p.Pro2625=)
|
rs536241867
|
|
|
NM_015046.7(SETX):c.7881G>A (p.Glu2627=)
|
|
|
|
NM_015046.7(SETX):c.7895G>T (p.Arg2632Met)
|
|
|
|
NM_015046.7(SETX):c.7924_7925delinsTT (p.Glu2642Leu)
|
|
|
|
NM_015046.7(SETX):c.792T>C (p.Asn264=)
|
|
|
|
NM_015046.7(SETX):c.7941T>C (p.Gly2647=)
|
rs1471003365
|
|
|
NM_015046.7(SETX):c.7944C>T (p.Ser2648=)
|
|
|
|
NM_015046.7(SETX):c.7948_7961del (p.Thr2650fs)
|
|
|
|
NM_015046.7(SETX):c.7984del (p.Arg2662fs)
|
rs2131109788
|
|
|
NM_015046.7(SETX):c.8022_8025del (p.Arg2674fs)
|
|
|
|
NM_015046.7(SETX):c.8030dup (p.Leu2677fs)
|
|
|
|
NM_015046.7(SETX):c.8031A>T (p.Leu2677Phe)
|
rs749325764
|
|
|
NM_015046.7(SETX):c.80C>T (p.Ser27Phe)
|
|
|
|
NM_015046.7(SETX):c.823G>C (p.Glu275Gln)
|
rs901741485
|
|
|
NM_015046.7(SETX):c.838+10T>G
|
rs2131491563
|
|
|
NM_015046.7(SETX):c.839-14C>T
|
|
|
|
NM_015046.7(SETX):c.839-20A>G
|
|
|
|
NM_015046.7(SETX):c.878T>G (p.Phe293Cys)
|
|
|
|
NM_015046.7(SETX):c.879T>C (p.Phe293=)
|
|
|
|
NM_015046.7(SETX):c.896G>A (p.Arg299His)
|
|
|
|
NM_015046.7(SETX):c.912C>T (p.Val304=)
|
rs1473756878
|
|
|
NM_015046.7(SETX):c.928G>A (p.Asp310Asn)
|
|
|
|
NM_015046.7(SETX):c.92A>G (p.Gln31Arg)
|
|
|
|
NM_015046.7(SETX):c.951C>T (p.Thr317=)
|
rs1025452911
|
|
|
NM_015046.7(SETX):c.973A>G (p.Asn325Asp)
|
|
|
|
NM_016169.4(SUFU):c.1001G>C (p.Gly334Ala)
|
|
|
|
NM_016169.4(SUFU):c.1002C>T (p.Gly334=)
|
|
|
|
NM_016169.4(SUFU):c.1004T>C (p.Leu335Pro)
|
rs2063496437
|
|
|
NM_016169.4(SUFU):c.1009C>T (p.His337Tyr)
|
|
|
|
NM_016169.4(SUFU):c.1009del (p.His337fs)
|
rs869300423
|
|
|
NM_016169.4(SUFU):c.1012G>A (p.Asp338Asn)
|
rs145082320
|
|
|
NM_016169.4(SUFU):c.1012G>C (p.Asp338His)
|
|
|
|
NM_016169.4(SUFU):c.1012G>T (p.Asp338Tyr)
|
rs145082320
|
|
|
NM_016169.4(SUFU):c.1016G>C (p.Arg339Pro)
|
rs369910221
|
|
|
NM_016169.4(SUFU):c.1017G>A (p.Arg339=)
|
rs2063496731
|
|
|
NM_016169.4(SUFU):c.1018G>A (p.Ala340Thr)
|
|
|
|
NM_016169.4(SUFU):c.1018del (p.Ala340fs)
|
rs2135889203
|
|
|
NM_016169.4(SUFU):c.1021C>G (p.Pro341Ala)
|
rs2063496822
|
|
|
NM_016169.4(SUFU):c.1022+10C>T
|
|
|
|
NM_016169.4(SUFU):c.1022+12A>C
|
|
|
|
NM_016169.4(SUFU):c.1022+15G>A
|
|
|
|
NM_016169.4(SUFU):c.1022+1G>A
|
rs587776578
|
|
|
NM_016169.4(SUFU):c.1022+20del
|
rs1265431746
|
|
|
NM_016169.4(SUFU):c.1022C>G (p.Pro341Arg)
|
|
|
|
NM_016169.4(SUFU):c.1022del (p.Pro341fs)
|
|
|
|
NM_016169.4(SUFU):c.1023-12C>T
|
|
|
|
NM_016169.4(SUFU):c.1023-14T>C
|
|
|
|
NM_016169.4(SUFU):c.1023-15G>A
|
|
|
|
NM_016169.4(SUFU):c.1023-18C>G
|
|
|
|
NM_016169.4(SUFU):c.1023-18C>T
|
rs892399500
|
|
|
NM_016169.4(SUFU):c.1023-19T>C
|
|
|
|
NM_016169.4(SUFU):c.1023-2A>T
|
rs1060501105
|
|
|
NM_016169.4(SUFU):c.1023-3C>T
|
rs550262133
|
|
|
NM_016169.4(SUFU):c.1023-6T>C
|
rs2063672832
|
|
|
NM_016169.4(SUFU):c.1023-8C>T
|
rs1554854552
|
|
|
NM_016169.4(SUFU):c.1023-9G>C
|
rs1590082088
|
|
|
NM_016169.4(SUFU):c.1023G>A (p.Pro341=)
|
rs2135929726
|
|
|
NM_016169.4(SUFU):c.1025G>T (p.Ser342Ile)
|
|
|
|
NM_016169.4(SUFU):c.1026C>A (p.Ser342Arg)
|
|
|
|
NM_016169.4(SUFU):c.1028G>C (p.Arg343Pro)
|
|
|
|
NM_016169.4(SUFU):c.1028G>T (p.Arg343Leu)
|
rs79299301
|
|
|
NM_016169.4(SUFU):c.1031A>G (p.Lys344Arg)
|
|
|
|
NM_016169.4(SUFU):c.1034A>G (p.Asp345Gly)
|
rs1590082122
|
|
|
NM_016169.4(SUFU):c.1037G>T (p.Ser346Ile)
|
|
|
|
NM_016169.4(SUFU):c.103C>T (p.His35Tyr)
|
|
|
|
NM_016169.4(SUFU):c.1041G>C (p.Leu347=)
|
|
|
|
NM_016169.4(SUFU):c.1042G>A (p.Glu348Lys)
|
rs1447671524
|
|
|
NM_016169.4(SUFU):c.1046G>C (p.Ser349Thr)
|
rs1419645738
|
|
|
NM_016169.4(SUFU):c.1048G>A (p.Asp350Asn)
|
|
|
|
NM_016169.4(SUFU):c.104A>G (p.His35Arg)
|
rs2062292023
|
|
|
NM_016169.4(SUFU):c.1055C>G (p.Ser352Cys)
|
|
|
|
NM_016169.4(SUFU):c.1056C>A (p.Ser352=)
|
rs1590082153
|
|
|
NM_016169.4(SUFU):c.1056C>T (p.Ser352=)
|
rs1590082153
|
|
|
NM_016169.4(SUFU):c.1057A>T (p.Thr353Ser)
|
rs1043574191
|
|
|
NM_016169.4(SUFU):c.105C>T (p.His35=)
|
|
|
|
NM_016169.4(SUFU):c.1060G>A (p.Ala354Thr)
|
rs1554854570
|
|
|
NM_016169.4(SUFU):c.1061C>G (p.Ala354Gly)
|
rs1554854572
|
|
|
NM_016169.4(SUFU):c.1063A>G (p.Ile355Val)
|
rs1564706425
|
|
|
NM_016169.4(SUFU):c.1063A>T (p.Ile355Phe)
|
rs1564706425
|
|
|
NM_016169.4(SUFU):c.1065C>A (p.Ile355=)
|
|
|
|
NM_016169.4(SUFU):c.1068T>A (p.Ile356=)
|
|
|
|
NM_016169.4(SUFU):c.1068T>G (p.Ile356Met)
|
rs2063673886
|
|
|
NM_016169.4(SUFU):c.1069C>T (p.Pro357Ser)
|
|
|
|
NM_016169.4(SUFU):c.106G>A (p.Ala36Thr)
|
|
|
|
NM_016169.4(SUFU):c.1070_1084del (p.Pro357_Ile361del)
|
|
|
|
NM_016169.4(SUFU):c.1071C>T (p.Pro357=)
|
rs1590082185
|
|
|
NM_016169.4(SUFU):c.1073A>C (p.His358Pro)
|
|
|
|
NM_016169.4(SUFU):c.1077G>A (p.Glu359=)
|
rs1590082194
|
|
|
NM_016169.4(SUFU):c.1077del (p.Glu359fs)
|
rs2135930082
|
|
|
NM_016169.4(SUFU):c.1079T>G (p.Leu360Arg)
|
|
|
|
NM_016169.4(SUFU):c.1083T>G (p.Ile361Met)
|
rs1590082200
|
|
|
NM_016169.4(SUFU):c.1085G>T (p.Arg362Leu)
|
rs755390277
|
|
|
NM_016169.4(SUFU):c.1087A>G (p.Thr363Ala)
|
rs2135930147
|
|
|
NM_016169.4(SUFU):c.1090C>A (p.Arg364=)
|
rs1305395503
|
|
|
NM_016169.4(SUFU):c.1090C>T (p.Arg364Trp)
|
rs1305395503
|
|
|
NM_016169.4(SUFU):c.1094A>C (p.Gln365Pro)
|
|
|
|
NM_016169.4(SUFU):c.1097T>C (p.Leu366Pro)
|
rs2063674539
|
|
|
NM_016169.4(SUFU):c.1104C>G (p.Ser368Arg)
|
rs746580970
|
|
|
NM_016169.4(SUFU):c.1105G>C (p.Val369Leu)
|
rs149449923
|
|
|
NM_016169.4(SUFU):c.1106T>C (p.Val369Ala)
|
rs1554854584
|
|
|
NM_016169.4(SUFU):c.111C>T (p.Ile37=)
|
|
|
|
NM_016169.4(SUFU):c.1120A>G (p.Asn374Asp)
|
rs2063674917
|
|
|
NM_016169.4(SUFU):c.1121A>C (p.Asn374Thr)
|
rs1265012285
|
|
|
NM_016169.4(SUFU):c.1122C>T (p.Asn374=)
|
rs1590082264
|
|
|
NM_016169.4(SUFU):c.1123del (p.Gln375fs)
|
rs2135930329
|
|
|
NM_016169.4(SUFU):c.1124A>G (p.Gln375Arg)
|
|
|
|
NM_016169.4(SUFU):c.1127A>T (p.Glu376Val)
|
|
|
|
NM_016169.4(SUFU):c.1132G>A (p.Gly378Arg)
|
rs1256959985
|
|
|
NM_016169.4(SUFU):c.1133G>C (p.Gly378Ala)
|
|
|
|
NM_016169.4(SUFU):c.1134A>G (p.Gly378=)
|
|
|
|
NM_016169.4(SUFU):c.1135G>C (p.Ala379Pro)
|
|
|
|
NM_016169.4(SUFU):c.1139T>A (p.Leu380His)
|
rs2063675268
|
|
|
NM_016169.4(SUFU):c.113A>G (p.Tyr38Cys)
|
rs2062292284
|
|
|
NM_016169.4(SUFU):c.1140C>G (p.Leu380=)
|
|
|
|
NM_016169.4(SUFU):c.1141A>G (p.Ile381Val)
|
|
|
|
NM_016169.4(SUFU):c.1142T>C (p.Ile381Thr)
|
rs2135930458
|
|
|
NM_016169.4(SUFU):c.1145C>G (p.Pro382Arg)
|
|
|
|
NM_016169.4(SUFU):c.1145C>T (p.Pro382Leu)
|
rs1401882800
|
|
|
NM_016169.4(SUFU):c.1146T>C (p.Pro382=)
|
rs1159204850
|
|
|
NM_016169.4(SUFU):c.1147C>T (p.Leu383Phe)
|
|
|
|
NM_016169.4(SUFU):c.1149C>T (p.Leu383=)
|
|
|
|
NM_016169.4(SUFU):c.1150T>C (p.Cys384Arg)
|
rs375419295
|
|
|
NM_016169.4(SUFU):c.1152C>T (p.Cys384=)
|
rs1590082342
|
|
|
NM_016169.4(SUFU):c.1155A>G (p.Leu385=)
|
|
|
|
NM_016169.4(SUFU):c.1157+11C>T
|
|
|
|
NM_016169.4(SUFU):c.1157+13del
|
|
|
|
NM_016169.4(SUFU):c.1157+14C>T
|
rs2063675828
|
|
|
NM_016169.4(SUFU):c.1157+17T>G
|
rs2135930605
|
|
|
NM_016169.4(SUFU):c.1157+1G>A
|
|
|
|
NM_016169.4(SUFU):c.1157+20CA[4]
|
|
|
|
NM_016169.4(SUFU):c.1157+7G>C
|
rs371548374
|
|
|
NM_016169.4(SUFU):c.1157G>C (p.Arg386Thr)
|
|
|
|
NM_016169.4(SUFU):c.1158-10C>T
|
rs904045520
|
|
|
NM_016169.4(SUFU):c.1158-10_1158-9insT
|
rs2135934819
|
|
|
NM_016169.4(SUFU):c.1158-11C>T
|
rs2135934809
|
|
|
NM_016169.4(SUFU):c.1158-13T>A
|
|
|
|
NM_016169.4(SUFU):c.1158-13T>G
|
|
|
|
NM_016169.4(SUFU):c.1158-15T>C
|
rs998644443
|
|
|
NM_016169.4(SUFU):c.1158-18C>G
|
rs2135934793
|
|
|
NM_016169.4(SUFU):c.1158-18_1158-15dup
|
rs2063696440
|
|
|
NM_016169.4(SUFU):c.1158-3C>T
|
rs936830108
|
|
|
NM_016169.4(SUFU):c.1158-4C>T
|
rs768603330
|
|
|
NM_016169.4(SUFU):c.1158-8_1158-7insCTG
|
rs2135934830
|
|
|
NM_016169.4(SUFU):c.1158-9C>T
|
|
|
|
NM_016169.4(SUFU):c.1158G>A (p.Arg386=)
|
rs773979098
|
|
|
NM_016169.4(SUFU):c.1159G>A (p.Gly387Ser)
|
|
|
|
NM_016169.4(SUFU):c.1160G>A (p.Gly387Asp)
|
|
|
|
NM_016169.4(SUFU):c.1167C>G (p.Leu389=)
|
|
|
|
NM_016169.4(SUFU):c.1167C>T (p.Leu389=)
|
|
|
|
NM_016169.4(SUFU):c.116G>T (p.Gly39Val)
|
rs756123785
|
|
|
NM_016169.4(SUFU):c.1171C>T (p.His391Tyr)
|
|
|
|
NM_016169.4(SUFU):c.1172A>G (p.His391Arg)
|
rs2063696863
|
|
|
NM_016169.4(SUFU):c.1174G>C (p.Gly392Arg)
|
rs2063696912
|
|
|
NM_016169.4(SUFU):c.1178G>A (p.Arg393Gln)
|
|
|
|
NM_016169.4(SUFU):c.1179G>A (p.Arg393=)
|
|
|
|
NM_016169.4(SUFU):c.1180C>G (p.His394Asp)
|
|
|
|
NM_016169.4(SUFU):c.1183T>G (p.Phe395Val)
|
|
|
|
NM_016169.4(SUFU):c.1185T>C (p.Phe395=)
|
rs760982248
|
|
|
NM_016169.4(SUFU):c.1191del (p.Thr396_Tyr397insTer)
|
|
|
|
NM_016169.4(SUFU):c.1196G>A (p.Ser399Asn)
|
rs1421345157
|
|
|
NM_016169.4(SUFU):c.1196G>C (p.Ser399Thr)
|
rs1421345157
|
|
|
NM_016169.4(SUFU):c.119A>G (p.Glu40Gly)
|
|
|
|
NM_016169.4(SUFU):c.11T>G (p.Leu4Arg)
|
|
|
|
NM_016169.4(SUFU):c.1202C>T (p.Thr401Ile)
|
rs776868943
|
|
|
NM_016169.4(SUFU):c.1205G>A (p.Gly402Asp)
|
rs2063697237
|
|
|
NM_016169.4(SUFU):c.120G>A (p.Glu40=)
|
|
|
|
NM_016169.4(SUFU):c.1210A>G (p.Met404Val)
|
rs1312190379
|
|
|
NM_016169.4(SUFU):c.1211T>A (p.Met404Lys)
|
rs2063697367
|
|
|
NM_016169.4(SUFU):c.1211T>C (p.Met404Thr)
|
|
|
|
NM_016169.4(SUFU):c.1214C>T (p.Ala405Val)
|
|
|
|
NM_016169.4(SUFU):c.1216A>G (p.Ile406Val)
|
rs1060501116
|
|
|
NM_016169.4(SUFU):c.1220C>T (p.Thr407Met)
|
|
|
|
NM_016169.4(SUFU):c.1229C>G (p.Ser410Cys)
|
|
|
|
NM_016169.4(SUFU):c.1231A>G (p.Thr411Ala)
|
|
|
|
NM_016169.4(SUFU):c.1233G>A (p.Thr411=)
|
|
|
|
NM_016169.4(SUFU):c.1233G>C (p.Thr411=)
|
|
|
|
NM_016169.4(SUFU):c.1235G>A (p.Gly412Glu)
|
rs1590084228
|
|
|
NM_016169.4(SUFU):c.1239G>A (p.Val413=)
|
|
|
|
NM_016169.4(SUFU):c.1244G>A (p.Gly415Asp)
|
rs2135935261
|
|
|
NM_016169.4(SUFU):c.1246G>A (p.Ala416Thr)
|
rs779490664
|
|
|
NM_016169.4(SUFU):c.1246G>T (p.Ala416Ser)
|
rs779490664
|
|
|
NM_016169.4(SUFU):c.1246_1249dup (p.Phe417fs)
|
|
|
|
NM_016169.4(SUFU):c.1247C>A (p.Ala416Asp)
|
rs2063698018
|
|
|
NM_016169.4(SUFU):c.1248C>T (p.Ala416=)
|
|
|
|
NM_016169.4(SUFU):c.124dup (p.Arg42fs)
|
rs2062292476
|
|
|
NM_016169.4(SUFU):c.1252G>C (p.Ala418Pro)
|
rs2063698088
|
|
|
NM_016169.4(SUFU):c.1252G>T (p.Ala418Ser)
|
|
|
|
NM_016169.4(SUFU):c.1254C>A (p.Ala418=)
|
rs1554854775
|
|
|
NM_016169.4(SUFU):c.1254C>T (p.Ala418=)
|
rs1554854775
|
|
|
NM_016169.4(SUFU):c.1263G>A (p.Glu421=)
|
|
|
|
NM_016169.4(SUFU):c.1263_1264delinsTT (p.Glu421_His422delinsAspTyr)
|
|
|
|
NM_016169.4(SUFU):c.1268C>G (p.Pro423Arg)
|
rs1590084270
|
|
|
NM_016169.4(SUFU):c.1268C>T (p.Pro423Leu)
|
|
|
|
NM_016169.4(SUFU):c.1274C>T (p.Ala425Val)
|
rs1427876079
|
|
|
NM_016169.4(SUFU):c.1276G>A (p.Ala426Thr)
|
rs1189930416
|
|
|
NM_016169.4(SUFU):c.1277C>T (p.Ala426Val)
|
rs772895878
|
|
|
NM_016169.4(SUFU):c.1284A>G (p.Gly428=)
|
rs2135935488
|
|
|
NM_016169.4(SUFU):c.1287C>G (p.Pro429=)
|
rs2135935515
|
|
|
NM_016169.4(SUFU):c.1291T>G (p.Leu431Val)
|
rs141950577
|
|
|
NM_016169.4(SUFU):c.1293A>G (p.Leu431=)
|
rs2135935555
|
|
|
NM_016169.4(SUFU):c.1295A>C (p.Gln432Pro)
|
|
|
|
NM_016169.4(SUFU):c.1296+10C>T
|
|
|
|
NM_016169.4(SUFU):c.1296+13_1296+91del
|
|
|
|
NM_016169.4(SUFU):c.1296+14T>G
|
rs1489647547
|
|
|
NM_016169.4(SUFU):c.1296+18C>A
|
|
|
|
NM_016169.4(SUFU):c.1296+18dup
|
|
|
|
NM_016169.4(SUFU):c.1296+3G>A
|
rs2135935586
|
|
|
NM_016169.4(SUFU):c.1296+4_1296+459del
|
rs2063698594
|
|
|
NM_016169.4(SUFU):c.1296+5G>A
|
|
|
|
NM_016169.4(SUFU):c.1297-12G>A
|
|
|
|
NM_016169.4(SUFU):c.1297-15C>T
|
|
|
|
NM_016169.4(SUFU):c.1297-19C>G
|
|
|
|
NM_016169.4(SUFU):c.1297-5C>T
|
rs1275187815
|
|
|
NM_016169.4(SUFU):c.1297-7T>C
|
|
|
|
NM_016169.4(SUFU):c.129C>G (p.Arg43=)
|
rs1453485604
|
|
|
NM_016169.4(SUFU):c.129C>T (p.Arg43=)
|
rs1453485604
|
|
|
NM_016169.4(SUFU):c.1302G>A (p.Leu434=)
|
rs780117353
|
|
|
NM_016169.4(SUFU):c.1308C>G (p.Thr436=)
|
|
|
|
NM_016169.4(SUFU):c.130C>T (p.Leu44Phe)
|
|
|
|
NM_016169.4(SUFU):c.1312del (p.Glu438fs)
|
rs2135954200
|
|
|
NM_016169.4(SUFU):c.1314G>C (p.Glu438Asp)
|
|
|
|
NM_016169.4(SUFU):c.1316T>C (p.Phe439Ser)
|
rs778975698
|
|
|
NM_016169.4(SUFU):c.1318G>A (p.Val440Ile)
|
|
|
|
NM_016169.4(SUFU):c.1319T>C (p.Val440Ala)
|
rs2135954241
|
|
|
NM_016169.4(SUFU):c.1322A>T (p.Glu441Val)
|
rs2063793808
|
|
|
NM_016169.4(SUFU):c.1329G>T (p.Met443Ile)
|
rs773805575
|
|
|
NM_016169.4(SUFU):c.1332G>C (p.Leu444Phe)
|
rs2135954289
|
|
|
NM_016169.4(SUFU):c.1336G>A (p.Asp446Asn)
|
rs2135954318
|
|
|
NM_016169.4(SUFU):c.1339T>G (p.Leu447Val)
|
rs2135954327
|
|
|
NM_016169.4(SUFU):c.1342G>A (p.Glu448Lys)
|
rs2135954335
|
|
|
NM_016169.4(SUFU):c.1347T>G (p.Asp449Glu)
|
rs1564711403
|
|
|
NM_016169.4(SUFU):c.134A>T (p.Tyr45Phe)
|
rs774611157
|
|
|
NM_016169.4(SUFU):c.1350G>C (p.Leu450Phe)
|
rs2135954349
|
|
|
NM_016169.4(SUFU):c.1351A>G (p.Thr451Ala)
|
|
|
|
NM_016169.4(SUFU):c.1355C>A (p.Ser452Tyr)
|
rs2135954353
|
|
|
NM_016169.4(SUFU):c.1360G>C (p.Glu454Gln)
|
|
|
|
NM_016169.4(SUFU):c.1365+13G>A
|
|
|
|
NM_016169.4(SUFU):c.1365+18_1365+19delinsCC
|
|
|
|
NM_016169.4(SUFU):c.1365+1G>A
|
rs2063794106
|
|
|
NM_016169.4(SUFU):c.1365+6C>A
|
rs2063794144
|
|
|
NM_016169.4(SUFU):c.1365+6C>T
|
|
|
|
NM_016169.4(SUFU):c.1365+7T>A
|
|
|
|
NM_016169.4(SUFU):c.1365+8T>C
|
|
|
|
NM_016169.4(SUFU):c.1366-13G>C
|
|
|
|
NM_016169.4(SUFU):c.1366-15T>A
|
|
|
|
NM_016169.4(SUFU):c.1366-17G>C
|
|
|
|
NM_016169.4(SUFU):c.1366-6C>T
|
rs1564712471
|
|
|
NM_016169.4(SUFU):c.136C>A (p.Pro46Thr)
|
|
|
|
NM_016169.4(SUFU):c.136C>T (p.Pro46Ser)
|
|
|
|
NM_016169.4(SUFU):c.1370A>G (p.Lys457Arg)
|
rs947720538
|
|
|
NM_016169.4(SUFU):c.1371A>G (p.Lys457=)
|
|
|
|
NM_016169.4(SUFU):c.1372C>A (p.Leu458Ile)
|
|
|
|
NM_016169.4(SUFU):c.1372C>T (p.Leu458Phe)
|
|
|
|
NM_016169.4(SUFU):c.1375C>T (p.Pro459Ser)
|
rs2063824067
|
|
|
NM_016169.4(SUFU):c.137C>G (p.Pro46Arg)
|
|
|
|
NM_016169.4(SUFU):c.137C>T (p.Pro46Leu)
|
rs2135598488
|
|
|
NM_016169.4(SUFU):c.1387A>G (p.Ser463Gly)
|
|
|
|
NM_016169.4(SUFU):c.138T>C (p.Pro46=)
|
|
|
|
NM_016169.4(SUFU):c.138_141del (p.Asp47fs)
|
|
|
|
NM_016169.4(SUFU):c.1398A>G (p.Glu466=)
|
rs2135959452
|
|
|
NM_016169.4(SUFU):c.139G>A (p.Asp47Asn)
|
rs2062292973
|
|
|
NM_016169.4(SUFU):c.1415C>T (p.Ser472Phe)
|
rs1590094982
|
|
|
NM_016169.4(SUFU):c.1416C>T (p.Ser472=)
|
rs1318853616
|
|
|
NM_016169.4(SUFU):c.1419C>T (p.Ile473=)
|
rs1342217589
|
|
|
NM_016169.4(SUFU):c.1422G>T (p.Leu474=)
|
|
|
|
NM_016169.4(SUFU):c.1429G>T (p.Val477Leu)
|
|
|
|
NM_016169.4(SUFU):c.1434G>A (p.Val478=)
|
|
|
|
NM_016169.4(SUFU):c.1438G>A (p.Asp480Asn)
|
rs1318484622
|
|
|
NM_016169.4(SUFU):c.1442_1451del (p.Ser481fs)
|
rs1324912821
|
|
|
NM_016169.4(SUFU):c.1444C>T (p.Pro482Ser)
|
|
|
|
NM_016169.4(SUFU):c.1445C>G (p.Pro482Arg)
|
rs765358771
|
|
|
NM_016169.4(SUFU):c.1446G>T (p.Pro482=)
|
|
|
|
NM_016169.4(SUFU):c.1448T>C (p.Leu483Pro)
|
rs1060501115
|
|
|
NM_016169.4(SUFU):c.144G>T (p.Gln48His)
|
|
|
|
NM_016169.4(SUFU):c.1450C>T (p.His484Tyr)
|
rs2135959641
|
|
|
NM_016169.4(SUFU):c.1450_*18del (p.His484_Ter485del)
|
rs2063824850
|
|
|
NM_016169.4(SUFU):c.1452C>T (p.His484=)
|
rs2135959647
|
|
|
NM_016169.4(SUFU):c.1453T>G (p.Ter485Glu)
|
|
|
|
NM_016169.4(SUFU):c.145C>G (p.Pro49Ala)
|
|
|
|
NM_016169.4(SUFU):c.147G>A (p.Pro49=)
|
rs1554840859
|
|
|
NM_016169.4(SUFU):c.14_33del (p.Arg5fs)
|
|
|
|
NM_016169.4(SUFU):c.151C>T (p.Pro51Ser)
|
rs2062293449
|
|
|
NM_016169.4(SUFU):c.153G>A (p.Pro51=)
|
|
|
|
NM_016169.4(SUFU):c.154_155delinsAC (p.Leu52Thr)
|
rs2135598653
|
|
|
NM_016169.4(SUFU):c.155T>A (p.Leu52His)
|
rs2135598661
|
|
|
NM_016169.4(SUFU):c.156C>T (p.Leu52=)
|
rs1589970169
|
|
|
NM_016169.4(SUFU):c.157C>T (p.Gln53Ter)
|
rs2135598685
|
|
|
NM_016169.4(SUFU):c.158A>G (p.Gln53Arg)
|
rs1589970174
|
|
|
NM_016169.4(SUFU):c.15G>A (p.Arg5=)
|
rs2062288402
|
|
|
NM_016169.4(SUFU):c.160G>A (p.Val54Ile)
|
rs2135598727
|
|
|
NM_016169.4(SUFU):c.16C>T (p.Pro6Ser)
|
rs2062288467
|
|
|
NM_016169.4(SUFU):c.171C>G (p.Ile57Met)
|
rs1283661186
|
|
|
NM_016169.4(SUFU):c.171C>T (p.Ile57=)
|
rs1283661186
|
|
|
NM_016169.4(SUFU):c.171dup (p.Val58fs)
|
rs1554840869
|
|
|
NM_016169.4(SUFU):c.172G>A (p.Val58Ile)
|
|
|
|
NM_016169.4(SUFU):c.172G>C (p.Val58Leu)
|
rs766897671
|
|
|
NM_016169.4(SUFU):c.173T>A (p.Val58Asp)
|
rs2135598841
|
|
|
NM_016169.4(SUFU):c.175A>T (p.Lys59Ter)
|
rs1564654588
|
|
|
NM_016169.4(SUFU):c.179A>C (p.Tyr60Ser)
|
|
|
|
NM_016169.4(SUFU):c.17C>G (p.Pro6Arg)
|
rs2135597134
|
|
|
NM_016169.4(SUFU):c.182+14C>G
|
rs1256929705
|
|
|
NM_016169.4(SUFU):c.182+17G>T
|
rs2135599022
|
|
|
NM_016169.4(SUFU):c.182+18G>C
|
|
|
|
NM_016169.4(SUFU):c.182+1G>A
|
rs2135598885
|
|
|
NM_016169.4(SUFU):c.182+20G>A
|
rs2135599029
|
|
|
NM_016169.4(SUFU):c.182+3A>C
|
rs1589970228
|
|
|
NM_016169.4(SUFU):c.182+3A>G
|
rs1589970228
|
|
|
NM_016169.4(SUFU):c.182+4T>C
|
rs1268149623
|
|
|
NM_016169.4(SUFU):c.182+6C>T
|
rs889720087
|
|
|
NM_016169.4(SUFU):c.182+7T>A
|
rs759858682
|
|
|
NM_016169.4(SUFU):c.182+7T>C
|
rs759858682
|
|
|
NM_016169.4(SUFU):c.182+9T>C
|
rs756923648
|
|
|
NM_016169.4(SUFU):c.183-10T>C
|
rs1060504148
|
|
|
NM_016169.4(SUFU):c.183-11G>T
|
|
|
|
NM_016169.4(SUFU):c.183-13T>C
|
|
|
|
NM_016169.4(SUFU):c.183-16G>A
|
rs2135619783
|
|
|
NM_016169.4(SUFU):c.183-18G>C
|
|
|
|
NM_016169.4(SUFU):c.183-1G>A
|
rs1554841447
|
|
|
NM_016169.4(SUFU):c.183-1G>T
|
|
|
|
NM_016169.4(SUFU):c.183-20C>T
|
rs761472045
|
|
|
NM_016169.4(SUFU):c.183-2A>C
|
rs2135619894
|
|
|
NM_016169.4(SUFU):c.183-4_247del
|
|
|
|
NM_016169.4(SUFU):c.183-4del
|
rs1345403982
|
|
|
NM_016169.4(SUFU):c.189T>C (p.Gly63=)
|
rs2135619936
|
|
|
NM_016169.4(SUFU):c.192C>T (p.Gly64=)
|
rs2135619956
|
|
|
NM_016169.4(SUFU):c.19A>G (p.Ser7Gly)
|
rs2062288510
|
|
|
NM_016169.4(SUFU):c.200C>G (p.Pro67Arg)
|
rs1564656995
|
|
|
NM_016169.4(SUFU):c.201C>T (p.Pro67=)
|
|
|
|
NM_016169.4(SUFU):c.202T>C (p.Leu68=)
|
rs1589975244
|
|
|
NM_016169.4(SUFU):c.202T>G (p.Leu68Val)
|
rs1589975244
|
|
|
NM_016169.4(SUFU):c.207C>T (p.Asp69=)
|
rs778708985
|
|
|
NM_016169.4(SUFU):c.209A>G (p.Tyr70Cys)
|
|
|
|
NM_016169.4(SUFU):c.215G>A (p.Ser72Asn)
|
rs1589975269
|
|
|
NM_016169.4(SUFU):c.217A>T (p.Met73Leu)
|
rs1183694060
|
|
|
NM_016169.4(SUFU):c.21C>A (p.Ser7Arg)
|
rs2135597167
|
|
|
NM_016169.4(SUFU):c.21C>G (p.Ser7Arg)
|
|
|
|
NM_016169.4(SUFU):c.222C>G (p.Tyr74Ter)
|
|
|
|
NM_016169.4(SUFU):c.227A>C (p.Asn76Thr)
|
|
|
|
NM_016169.4(SUFU):c.229G>A (p.Val77Met)
|
|
|
|
NM_016169.4(SUFU):c.22G>T (p.Gly8Cys)
|
rs769696737
|
|
|
NM_016169.4(SUFU):c.230T>C (p.Val77Ala)
|
|
|
|
NM_016169.4(SUFU):c.231G>T (p.Val77=)
|
|
|
|
NM_016169.4(SUFU):c.233G>A (p.Gly78Glu)
|
rs2062368710
|
|
|
NM_016169.4(SUFU):c.236G>C (p.Ser79Thr)
|
rs2135620312
|
|
|
NM_016169.4(SUFU):c.238C>A (p.Pro80Thr)
|
|
|
|
NM_016169.4(SUFU):c.240T>G (p.Pro80=)
|
rs2135620342
|
|
|
NM_016169.4(SUFU):c.242C>A (p.Ser81Tyr)
|
|
|
|
NM_016169.4(SUFU):c.242C>G (p.Ser81Cys)
|
rs2062368817
|
|
|
NM_016169.4(SUFU):c.245C>T (p.Ala82Val)
|
|
|
|
NM_016169.4(SUFU):c.247A>C (p.Asn83His)
|
rs2135620366
|
|
|
NM_016169.4(SUFU):c.247A>G (p.Asn83Asp)
|
rs2135620366
|
|
|
NM_016169.4(SUFU):c.253C>G (p.Pro85Ala)
|
rs1187640052
|
|
|
NM_016169.4(SUFU):c.253C>T (p.Pro85Ser)
|
rs1187640052
|
|
|
NM_016169.4(SUFU):c.254C>T (p.Pro85Leu)
|
|
|
|
NM_016169.4(SUFU):c.255C>G (p.Pro85=)
|
rs113671745
|
|
|
NM_016169.4(SUFU):c.256G>T (p.Glu86Ter)
|
|
|
|
NM_016169.4(SUFU):c.258G>A (p.Glu86=)
|
rs1183328233
|
|
|
NM_016169.4(SUFU):c.261C>T (p.His87=)
|
|
|
|
NM_016169.4(SUFU):c.270C>T (p.Tyr90=)
|
rs2135620594
|
|
|
NM_016169.4(SUFU):c.271A>G (p.Ile91Val)
|
rs759030707
|
|
|
NM_016169.4(SUFU):c.272T>A (p.Ile91Asn)
|
rs781318691
|
|
|
NM_016169.4(SUFU):c.273C>G (p.Ile91Met)
|
rs2062369595
|
|
|
NM_016169.4(SUFU):c.274A>G (p.Ser92Gly)
|
rs2062369652
|
|
|
NM_016169.4(SUFU):c.276C>G (p.Ser92Arg)
|
rs1060501106
|
|
|
NM_016169.4(SUFU):c.279C>A (p.Phe93Leu)
|
rs770218907
|
|
|
NM_016169.4(SUFU):c.27C>A (p.Ala9=)
|
rs1244167364
|
|
|
NM_016169.4(SUFU):c.280G>A (p.Gly94Ser)
|
|
|
|
NM_016169.4(SUFU):c.285G>A (p.Leu95=)
|
rs1589975337
|
|
|
NM_016169.4(SUFU):c.285G>C (p.Leu95=)
|
rs1589975337
|
|
|
NM_016169.4(SUFU):c.285G>T (p.Leu95=)
|
rs1589975337
|
|
|
NM_016169.4(SUFU):c.287G>C (p.Ser96Thr)
|
rs2135620752
|
|
|
NM_016169.4(SUFU):c.28C>G (p.Pro10Ala)
|
|
|
|
NM_016169.4(SUFU):c.28C>T (p.Pro10Ser)
|
rs975936230
|
|
|
NM_016169.4(SUFU):c.295T>C (p.Tyr99His)
|
rs2062370032
|
|
|
NM_016169.4(SUFU):c.305A>G (p.Asn102Ser)
|
rs146181245
|
|
|
NM_016169.4(SUFU):c.306C>G (p.Asn102Lys)
|
|
|
|
NM_016169.4(SUFU):c.316G>C (p.Glu106Gln)
|
rs1040654062
|
|
|
NM_016169.4(SUFU):c.317+11G>A
|
|
|
|
NM_016169.4(SUFU):c.317+12C>T
|
|
|
|
NM_016169.4(SUFU):c.317+15C>T
|
|
|
|
NM_016169.4(SUFU):c.317+18G>C
|
rs765919055
|
|
|
NM_016169.4(SUFU):c.317+1G>A
|
rs2135621012
|
|
|
NM_016169.4(SUFU):c.317+5G>T
|
rs2062370553
|
|
|
NM_016169.4(SUFU):c.317+7A>G
|
|
|
|
NM_016169.4(SUFU):c.317+9A>C
|
rs1333202541
|
|
|
NM_016169.4(SUFU):c.317+9A>G
|
|
|
|
NM_016169.4(SUFU):c.317A>G (p.Glu106Gly)
|
|
|
|
NM_016169.4(SUFU):c.318-10T>C
|
rs2062894940
|
|
|
NM_016169.4(SUFU):c.318-11A>G
|
|
|
|
NM_016169.4(SUFU):c.318-11del
|
|
|
|
NM_016169.4(SUFU):c.318-17C>T
|
|
|
|
NM_016169.4(SUFU):c.318-19del
|
|
|
|
NM_016169.4(SUFU):c.318-1G>C
|
rs2135742927
|
|
|
NM_016169.4(SUFU):c.318-22_318-19del
|
|
|
|
NM_016169.4(SUFU):c.318-3C>T
|
|
|
|
NM_016169.4(SUFU):c.318-9G>A
|
|
|
|
NM_016169.4(SUFU):c.318G>A (p.Glu106=)
|
rs1188593672
|
|
|
NM_016169.4(SUFU):c.31G>A (p.Gly11Ser)
|
|
|
|
NM_016169.4(SUFU):c.320T>G (p.Phe107Cys)
|
|
|
|
NM_016169.4(SUFU):c.327A>G (p.Gly109=)
|
rs2135743007
|
|
|
NM_016169.4(SUFU):c.32G>A (p.Gly11Asp)
|
rs1227379293
|
|
|
NM_016169.4(SUFU):c.333T>G (p.Asp111Glu)
|
rs2062895698
|
|
|
NM_016169.4(SUFU):c.334G>A (p.Gly112Arg)
|
|
|
|
NM_016169.4(SUFU):c.33C>T (p.Gly11=)
|
rs12780566
|
|
|
NM_016169.4(SUFU):c.341G>A (p.Ser114Asn)
|
rs781192849
|
|
|
NM_016169.4(SUFU):c.341del (p.Ser114fs)
|
rs1060501108
|
|
|
NM_016169.4(SUFU):c.347T>G (p.Phe116Cys)
|
|
|
|
NM_016169.4(SUFU):c.34C>T (p.Pro12Ser)
|
|
|
|
NM_016169.4(SUFU):c.350G>C (p.Gly117Ala)
|
rs1564676348
|
|
|
NM_016169.4(SUFU):c.352T>C (p.Phe118Leu)
|
rs2062895967
|
|
|
NM_016169.4(SUFU):c.357G>A (p.Glu119=)
|
|
|
|
NM_016169.4(SUFU):c.358T>G (p.Leu120Val)
|
rs1415947980
|
|
|
NM_016169.4(SUFU):c.363C>G (p.Thr121=)
|
|
|
|
NM_016169.4(SUFU):c.363C>T (p.Thr121=)
|
rs910976342
|
|
|
NM_016169.4(SUFU):c.366T>G (p.Phe122Leu)
|
rs1216193400
|
|
|
NM_016169.4(SUFU):c.369_370delinsAT (p.Arg123_Leu124=)
|
rs2135743228
|
|
|
NM_016169.4(SUFU):c.36C>G (p.Pro12=)
|
rs1564654365
|
|
|
NM_016169.4(SUFU):c.36C>T (p.Pro12=)
|
|
|
|
NM_016169.4(SUFU):c.375G>A (p.Lys125=)
|
rs184867271
|
|
|
NM_016169.4(SUFU):c.375G>T (p.Lys125Asn)
|
|
|
|
NM_016169.4(SUFU):c.379G>A (p.Glu127Lys)
|
rs1280071055
|
|
|
NM_016169.4(SUFU):c.37_53del (p.Thr13fs)
|
rs2135597189
|
|
|
NM_016169.4(SUFU):c.37_53dup (p.Gly19fs)
|
rs2135597189
|
|
|
NM_016169.4(SUFU):c.383C>A (p.Thr128Asn)
|
|
|
|
NM_016169.4(SUFU):c.385G>A (p.Gly129Arg)
|
|
|
|
NM_016169.4(SUFU):c.388G>C (p.Glu130Gln)
|
|
|
|
NM_016169.4(SUFU):c.397C>T (p.Pro133Ser)
|
rs2135743325
|
|
|
NM_016169.4(SUFU):c.398C>T (p.Pro133Leu)
|
|
|
|
NM_016169.4(SUFU):c.399A>G (p.Pro133=)
|
|
|
|
NM_016169.4(SUFU):c.402A>G (p.Pro134=)
|
|
|
|
NM_016169.4(SUFU):c.406T>C (p.Trp136Arg)
|
|
|
|
NM_016169.4(SUFU):c.408G>A (p.Trp136Ter)
|
rs2135743382
|
|
|
NM_016169.4(SUFU):c.409C>T (p.Pro137Ser)
|
rs1564676427
|
|
|
NM_016169.4(SUFU):c.411C>A (p.Pro137=)
|
rs946508687
|
|
|
NM_016169.4(SUFU):c.413C>T (p.Ala138Val)
|
|
|
|
NM_016169.4(SUFU):c.420A>T (p.Leu140Phe)
|
rs1060501111
|
|
|
NM_016169.4(SUFU):c.425A>G (p.Gln142Arg)
|
rs2135743469
|
|
|
NM_016169.4(SUFU):c.426G>A (p.Gln142=)
|
rs2135743475
|
|
|
NM_016169.4(SUFU):c.429C>G (p.Gly143=)
|
|
|
|
NM_016169.4(SUFU):c.429C>T (p.Gly143=)
|
rs2062896951
|
|
|
NM_016169.4(SUFU):c.42G>A (p.Ala14=)
|
rs1179829804
|
|
|
NM_016169.4(SUFU):c.42_65del (p.10PGPTAPPA[1])
|
rs2062289607
|
|
|
NM_016169.4(SUFU):c.430T>G (p.Leu144Val)
|
rs2135743501
|
|
|
NM_016169.4(SUFU):c.438A>T (p.Arg146=)
|
rs775280499
|
|
|
NM_016169.4(SUFU):c.43C>G (p.Pro15Ala)
|
rs761921681
|
|
|
NM_016169.4(SUFU):c.442G>A (p.Val148Met)
|
rs763813479
|
|
|
NM_016169.4(SUFU):c.442G>T (p.Val148Leu)
|
rs763813479
|
|
|
NM_016169.4(SUFU):c.447C>T (p.Phe149=)
|
rs2062897233
|
|
|
NM_016169.4(SUFU):c.450G>C (p.Gln150His)
|
|
|
|
NM_016169.4(SUFU):c.454+10C>T
|
rs2135743674
|
|
|
NM_016169.4(SUFU):c.454+13G>C
|
|
|
|
NM_016169.4(SUFU):c.454+13_454+14dup
|
rs780518303
|
|
|
NM_016169.4(SUFU):c.454+15C>T
|
|
|
|
NM_016169.4(SUFU):c.454+18G>T
|
|
|
|
NM_016169.4(SUFU):c.454+1G>A
|
rs1564676479
|
|
|
NM_016169.4(SUFU):c.454+20TGCTG[3]
|
|
|
|
NM_016169.4(SUFU):c.454+4_454+5del
|
|
|
|
NM_016169.4(SUFU):c.454+6A>T
|
rs2062897274
|
|
|
NM_016169.4(SUFU):c.454+6_454+8del
|
rs2135743623
|
|
|
NM_016169.4(SUFU):c.454+7G>T
|
|
|
|
NM_016169.4(SUFU):c.454+8G>A
|
rs1172897703
|
|
|
NM_016169.4(SUFU):c.455-10T>A
|
|
|
|
NM_016169.4(SUFU):c.455-11C>G
|
|
|
|
NM_016169.4(SUFU):c.455-13A>G
|
|
|
|
NM_016169.4(SUFU):c.455-13A>T
|
|
|
|
NM_016169.4(SUFU):c.455-15G>A
|
|
|
|
NM_016169.4(SUFU):c.455-17T>G
|
rs2135866499
|
|
|
NM_016169.4(SUFU):c.455-19C>A
|
rs370818590
|
|
|
NM_016169.4(SUFU):c.455-19C>T
|
|
|
|
NM_016169.4(SUFU):c.455-20T>A
|
|
|
|
NM_016169.4(SUFU):c.455-5C>T
|
rs2135866563
|
|
|
NM_016169.4(SUFU):c.455-6C>T
|
rs2135866556
|
|
|
NM_016169.4(SUFU):c.455-9C>T
|
|
|
|
NM_016169.4(SUFU):c.45C>A (p.Pro15=)
|
|
|
|
NM_016169.4(SUFU):c.460A>G (p.Thr154Ala)
|
|
|
|
NM_016169.4(SUFU):c.460A>T (p.Thr154Ser)
|
|
|
|
NM_016169.4(SUFU):c.464T>G (p.Phe155Cys)
|
rs2063414949
|
|
|
NM_016169.4(SUFU):c.466T>C (p.Cys156Arg)
|
rs1554852266
|
|
|
NM_016169.4(SUFU):c.469A>G (p.Ser157Gly)
|
rs2063415039
|
|
|
NM_016169.4(SUFU):c.469A>T (p.Ser157Cys)
|
|
|
|
NM_016169.4(SUFU):c.46C>A (p.Pro16Thr)
|
rs978312925
|
|
|
NM_016169.4(SUFU):c.46C>G (p.Pro16Ala)
|
|
|
|
NM_016169.4(SUFU):c.479A>G (p.His160Arg)
|
|
|
|
NM_016169.4(SUFU):c.47C>T (p.Pro16Leu)
|
|
|
|
NM_016169.4(SUFU):c.48G>C (p.Pro16=)
|
|
|
|
NM_016169.4(SUFU):c.48G>T (p.Pro16=)
|
rs1467238395
|
|
|
NM_016169.4(SUFU):c.490C>T (p.His164Tyr)
|
rs2063415325
|
|
|
NM_016169.4(SUFU):c.492C>T (p.His164=)
|
|
|
|
NM_016169.4(SUFU):c.494G>C (p.Ser165Thr)
|
|
|
|
NM_016169.4(SUFU):c.509G>C (p.Ser170Thr)
|
|
|
|
NM_016169.4(SUFU):c.516A>C (p.Ser172=)
|
|
|
|
NM_016169.4(SUFU):c.518G>T (p.Arg173Ile)
|
rs587778697
|
|
|
NM_016169.4(SUFU):c.521T>A (p.Ile174Asn)
|
rs2063415661
|
|
|
NM_016169.4(SUFU):c.521T>C (p.Ile174Thr)
|
rs2063415661
|
|
|
NM_016169.4(SUFU):c.52C>A (p.Pro18Thr)
|
|
|
|
NM_016169.4(SUFU):c.52_75del (p.10_17PGPTAPPA[1])
|
rs1426839991
|
|
|
NM_016169.4(SUFU):c.531G>C (p.Met177Ile)
|
|
|
|
NM_016169.4(SUFU):c.53C>T (p.Pro18Leu)
|
|
|
|
NM_016169.4(SUFU):c.53_59del (p.Pro18fs)
|
rs2135597558
|
|
|
NM_016169.4(SUFU):c.53del (p.Pro18fs)
|
rs2135597588
|
|
|
NM_016169.4(SUFU):c.541G>A (p.Glu181Lys)
|
|
|
|
NM_016169.4(SUFU):c.544G>A (p.Asp182Asn)
|
rs2135867046
|
|
|
NM_016169.4(SUFU):c.546C>T (p.Asp182=)
|
rs2135867056
|
|
|
NM_016169.4(SUFU):c.54T>C (p.Pro18=)
|
rs1453186079
|
|
|
NM_016169.4(SUFU):c.550C>G (p.Gln184Glu)
|
rs2063416132
|
|
|
NM_016169.4(SUFU):c.551A>C (p.Gln184Pro)
|
rs2063416174
|
|
|
NM_016169.4(SUFU):c.553A>T (p.Met185Leu)
|
|
|
|
NM_016169.4(SUFU):c.556C>T (p.Gln186Ter)
|
|
|
|
NM_016169.4(SUFU):c.558G>A (p.Gln186=)
|
|
|
|
NM_016169.4(SUFU):c.55_69dup (p.Pro23_Pro24insGlyProThrAlaPro)
|
|
|
|
NM_016169.4(SUFU):c.561C>G (p.Pro187=)
|
rs769503197
|
|
|
NM_016169.4(SUFU):c.563T>C (p.Val188Ala)
|
rs2063416415
|
|
|
NM_016169.4(SUFU):c.56G>A (p.Gly19Asp)
|
rs1589969913
|
|
|
NM_016169.4(SUFU):c.570A>G (p.Thr190=)
|
|
|
|
NM_016169.4(SUFU):c.573C>T (p.Pro191=)
|
rs1170074019
|
|
|
NM_016169.4(SUFU):c.576dup (p.Gly193fs)
|
rs2135867295
|
|
|
NM_016169.4(SUFU):c.581T>C (p.Val194Ala)
|
|
|
|
NM_016169.4(SUFU):c.581del (p.Val194fs)
|
|
|
|
NM_016169.4(SUFU):c.585_586dup (p.Thr196fs)
|
rs1554852279
|
|
|
NM_016169.4(SUFU):c.586A>C (p.Thr196Pro)
|
rs2135867363
|
|
|
NM_016169.4(SUFU):c.586A>G (p.Thr196Ala)
|
rs2135867363
|
|
|
NM_016169.4(SUFU):c.587C>T (p.Thr196Ile)
|
rs2063416715
|
|
|
NM_016169.4(SUFU):c.588C>G (p.Thr196=)
|
|
|
|
NM_016169.4(SUFU):c.58C>G (p.Pro20Ala)
|
|
|
|
NM_016169.4(SUFU):c.592C>G (p.Leu198Val)
|
|
|
|
NM_016169.4(SUFU):c.597+11G>A
|
rs754485815
|
|
|
NM_016169.4(SUFU):c.597+12G>C
|
|
|
|
NM_016169.4(SUFU):c.597+13T>C
|
|
|
|
NM_016169.4(SUFU):c.597+15G>A
|
|
|
|
NM_016169.4(SUFU):c.597+19G>A
|
|
|
|
NM_016169.4(SUFU):c.597+19G>T
|
|
|
|
NM_016169.4(SUFU):c.597+1G>C
|
rs1590062006
|
|
|
NM_016169.4(SUFU):c.597+5G>A
|
rs1590062007
|
|
|
NM_016169.4(SUFU):c.597+6dup
|
|
|
|
NM_016169.4(SUFU):c.597+8A>C
|
rs2135867474
|
|
|
NM_016169.4(SUFU):c.597+9C>A
|
|
|
|
NM_016169.4(SUFU):c.597+9C>T
|
rs768196164
|
|
|
NM_016169.4(SUFU):c.597G>A (p.Gln199=)
|
rs1060501112
|
|
|
NM_016169.4(SUFU):c.598-12C>G
|
|
|
|
NM_016169.4(SUFU):c.598-14A>G
|
|
|
|
NM_016169.4(SUFU):c.598-18T>C
|
|
|
|
NM_016169.4(SUFU):c.598-4T>C
|
rs2135870306
|
|
|
NM_016169.4(SUFU):c.598-4T>G
|
rs2135870306
|
|
|
NM_016169.4(SUFU):c.598-6C>T
|
rs2135870298
|
|
|
NM_016169.4(SUFU):c.598-8G>C
|
rs2135870288
|
|
|
NM_016169.4(SUFU):c.598-8G>T
|
rs2135870288
|
|
|
NM_016169.4(SUFU):c.59C>T (p.Pro20Leu)
|
|
|
|
NM_016169.4(SUFU):c.600C>A (p.Ile200=)
|
|
|
|
NM_016169.4(SUFU):c.600C>G (p.Ile200Met)
|
rs149513330
|
|
|
NM_016169.4(SUFU):c.603T>C (p.Val201=)
|
rs1554852370
|
|
|
NM_016169.4(SUFU):c.60G>T (p.Pro20=)
|
rs1589969926
|
|
|
NM_016169.4(SUFU):c.614C>T (p.Thr205Ile)
|
rs1478836560
|
|
|
NM_016169.4(SUFU):c.616G>A (p.Glu206Lys)
|
rs1590062858
|
|
|
NM_016169.4(SUFU):c.618A>C (p.Glu206Asp)
|
|
|
|
NM_016169.4(SUFU):c.618A>T (p.Glu206Asp)
|
|
|
|
NM_016169.4(SUFU):c.624A>C (p.Leu208=)
|
|
|
|
NM_016169.4(SUFU):c.624A>G (p.Leu208=)
|
rs761722899
|
|
|
NM_016169.4(SUFU):c.626A>C (p.His209Pro)
|
rs1590062872
|
|
|
NM_016169.4(SUFU):c.62C>T (p.Thr21Ile)
|
|
|
|
NM_016169.4(SUFU):c.633C>T (p.Ala211=)
|
rs2135870571
|
|
|
NM_016169.4(SUFU):c.635A>G (p.Gln212Arg)
|
rs2063428727
|
|
|
NM_016169.4(SUFU):c.637C>T (p.Gln213Ter)
|
rs907135467
|
|
|
NM_016169.4(SUFU):c.639G>A (p.Gln213=)
|
rs1590062886
|
|
|
NM_016169.4(SUFU):c.63T>C (p.Thr21=)
|
rs1589969931
|
|
|
NM_016169.4(SUFU):c.642G>A (p.Trp214Ter)
|
|
|
|
NM_016169.4(SUFU):c.645C>G (p.Asn215Lys)
|
rs551772204
|
|
|
NM_016169.4(SUFU):c.646G>A (p.Gly216Arg)
|
rs2063429038
|
|
|
NM_016169.4(SUFU):c.649C>A (p.Gln217Lys)
|
|
|
|
NM_016169.4(SUFU):c.649_661del (p.Gln217fs)
|
rs1590062899
|
|
|
NM_016169.4(SUFU):c.654C>A (p.Gly218=)
|
rs1227186441
|
|
|
NM_016169.4(SUFU):c.654C>T (p.Gly218=)
|
rs1227186441
|
|
|
NM_016169.4(SUFU):c.65C>A (p.Ala22Asp)
|
rs761240106
|
|
|
NM_016169.4(SUFU):c.65C>T (p.Ala22Val)
|
rs761240106
|
|
|
NM_016169.4(SUFU):c.660G>A (p.Leu220=)
|
rs2135870749
|
|
|
NM_016169.4(SUFU):c.661G>A (p.Glu221Lys)
|
|
|
|
NM_016169.4(SUFU):c.663G>A (p.Glu221=)
|
|
|
|
NM_016169.4(SUFU):c.663G>T (p.Glu221Asp)
|
|
|
|
NM_016169.4(SUFU):c.664C>G (p.Leu222Val)
|
rs765345575
|
|
|
NM_016169.4(SUFU):c.664C>T (p.Leu222=)
|
rs765345575
|
|
|
NM_016169.4(SUFU):c.666G>C (p.Leu222=)
|
|
|
|
NM_016169.4(SUFU):c.668T>C (p.Leu223Pro)
|
|
|
|
NM_016169.4(SUFU):c.669G>A (p.Leu223=)
|
rs1432212427
|
|
|
NM_016169.4(SUFU):c.669G>C (p.Leu223=)
|
|
|
|
NM_016169.4(SUFU):c.66C>A (p.Ala22=)
|
rs1265496966
|
|
|
NM_016169.4(SUFU):c.66C>G (p.Ala22=)
|
|
|
|
NM_016169.4(SUFU):c.66C>T (p.Ala22=)
|
rs1265496966
|
|
|
NM_016169.4(SUFU):c.670C>T (p.Arg224Trp)
|
rs1590062935
|
|
|
NM_016169.4(SUFU):c.673A>T (p.Thr225Ser)
|
rs2063429642
|
|
|
NM_016169.4(SUFU):c.674C>G (p.Thr225Arg)
|
rs1432427138
|
|
|
NM_016169.4(SUFU):c.677T>C (p.Val226Ala)
|
rs895181370
|
|
|
NM_016169.4(SUFU):c.678G>T (p.Val226=)
|
|
|
|
NM_016169.4(SUFU):c.67C>G (p.Pro23Ala)
|
rs766666529
|
|
|
NM_016169.4(SUFU):c.681T>C (p.Pro227=)
|
|
|
|
NM_016169.4(SUFU):c.683+10C>A
|
|
|
|
NM_016169.4(SUFU):c.683+10del
|
|
|
|
NM_016169.4(SUFU):c.683+18G>A
|
|
|
|
NM_016169.4(SUFU):c.683+19T>C
|
|
|
|
NM_016169.4(SUFU):c.683+1G>A
|
rs2135870923
|
|
|
NM_016169.4(SUFU):c.683+21_683+24dup
|
|
|
|
NM_016169.4(SUFU):c.683+3G>A
|
rs1590062961
|
|
|
NM_016169.4(SUFU):c.683+7A>G
|
rs764695403
|
|
|
NM_016169.4(SUFU):c.683+7A>T
|
|
|
|
NM_016169.4(SUFU):c.683+8C>G
|
|
|
|
NM_016169.4(SUFU):c.684-11C>T
|
|
|
|
NM_016169.4(SUFU):c.684-11del
|
rs1650612996
|
|
|
NM_016169.4(SUFU):c.684-20T>C
|
|
|
|
NM_016169.4(SUFU):c.684-2A>G
|
rs1590063305
|
|
|
NM_016169.4(SUFU):c.684-5C>T
|
|
|
|
NM_016169.4(SUFU):c.684-6C>T
|
|
|
|
NM_016169.4(SUFU):c.686C>G (p.Ala229Gly)
|
rs1590063307
|
|
|
NM_016169.4(SUFU):c.686C>T (p.Ala229Val)
|
rs1590063307
|
|
|
NM_016169.4(SUFU):c.687T>C (p.Ala229=)
|
|
|
|
NM_016169.4(SUFU):c.68C>G (p.Pro23Arg)
|
|
|
|
NM_016169.4(SUFU):c.694C>G (p.Pro232Ala)
|
rs1060501110
|
|
|
NM_016169.4(SUFU):c.694C>T (p.Pro232Ser)
|
rs1060501110
|
|
|
NM_016169.4(SUFU):c.695C>T (p.Pro232Leu)
|
rs1240436102
|
|
|
NM_016169.4(SUFU):c.696C>T (p.Pro232=)
|
rs2063434189
|
|
|
NM_016169.4(SUFU):c.697T>C (p.Trp233Arg)
|
rs1590063333
|
|
|
NM_016169.4(SUFU):c.69C>G (p.Pro23=)
|
|
|
|
NM_016169.4(SUFU):c.69C>T (p.Pro23=)
|
rs1320688671
|
|
|
NM_016169.4(SUFU):c.6G>A (p.Ala2=)
|
rs746555296
|
|
|
NM_016169.4(SUFU):c.702G>T (p.Leu234=)
|
|
|
|
NM_016169.4(SUFU):c.706A>G (p.Thr236Ala)
|
|
|
|
NM_016169.4(SUFU):c.708T>C (p.Thr236=)
|
rs2135872255
|
|
|
NM_016169.4(SUFU):c.70C>A (p.Pro24Thr)
|
|
|
|
NM_016169.4(SUFU):c.70C>G (p.Pro24Ala)
|
rs1219870817
|
|
|
NM_016169.4(SUFU):c.70C>T (p.Pro24Ser)
|
rs1219870817
|
|
|
NM_016169.4(SUFU):c.711C>T (p.Asp237=)
|
|
|
|
NM_016169.4(SUFU):c.712A>G (p.Met238Val)
|
rs2063434374
|
|
|
NM_016169.4(SUFU):c.713T>C (p.Met238Thr)
|
rs2063434396
|
|
|
NM_016169.4(SUFU):c.714G>A (p.Met238Ile)
|
|
|
|
NM_016169.4(SUFU):c.715C>G (p.Arg239Gly)
|
rs369465986
|
|
|
NM_016169.4(SUFU):c.715C>T (p.Arg239Trp)
|
rs369465986
|
|
|
NM_016169.4(SUFU):c.716G>A (p.Arg239Gln)
|
rs1403040084
|
|
|
NM_016169.4(SUFU):c.71C>A (p.Pro24Gln)
|
rs754218597
|
|
|
NM_016169.4(SUFU):c.71C>T (p.Pro24Leu)
|
|
|
|
NM_016169.4(SUFU):c.71del (p.Pro24fs)
|
rs587776579
|
|
|
NM_016169.4(SUFU):c.71dup (p.Ala25fs)
|
rs587776579
|
|
|
NM_016169.4(SUFU):c.720G>A (p.Arg240=)
|
|
|
|
NM_016169.4(SUFU):c.727A>T (p.Thr243Ser)
|
rs762294261
|
|
|
NM_016169.4(SUFU):c.72G>A (p.Pro24=)
|
rs1322344970
|
|
|
NM_016169.4(SUFU):c.731T>C (p.Ile244Thr)
|
rs2063435042
|
|
|
NM_016169.4(SUFU):c.734T>C (p.Phe245Ser)
|
rs1303650670
|
|
|
NM_016169.4(SUFU):c.73G>A (p.Ala25Thr)
|
rs2135597901
|
|
|
NM_016169.4(SUFU):c.73dup (p.Ala25fs)
|
rs2135597894
|
|
|
NM_016169.4(SUFU):c.741C>G (p.Ile247Met)
|
rs2135872473
|
|
|
NM_016169.4(SUFU):c.741C>T (p.Ile247=)
|
rs2135872473
|
|
|
NM_016169.4(SUFU):c.742G>C (p.Asp248His)
|
rs1283509771
|
|
|
NM_016169.4(SUFU):c.743A>G (p.Asp248Gly)
|
rs2135872517
|
|
|
NM_016169.4(SUFU):c.748C>T (p.His250Tyr)
|
rs2135872528
|
|
|
NM_016169.4(SUFU):c.749A>G (p.His250Arg)
|
rs750808785
|
|
|
NM_016169.4(SUFU):c.74C>T (p.Ala25Val)
|
rs2062291323
|
|
|
NM_016169.4(SUFU):c.753G>C (p.Leu251=)
|
rs2063435526
|
|
|
NM_016169.4(SUFU):c.753_756+2dup
|
rs2063435496
|
|
|
NM_016169.4(SUFU):c.756+10G>T
|
|
|
|
NM_016169.4(SUFU):c.756+12G>C
|
|
|
|
NM_016169.4(SUFU):c.756+19A>G
|
|
|
|
NM_016169.4(SUFU):c.756A>C (p.Gln252His)
|
rs1317467424
|
|
|
NM_016169.4(SUFU):c.757-11_757-7del
|
rs1060501103
|
|
|
NM_016169.4(SUFU):c.757-15G>T
|
rs1564698642
|
|
|
NM_016169.4(SUFU):c.757-17T>G
|
rs2135880991
|
|
|
NM_016169.4(SUFU):c.757-4G>T
|
rs1554852773
|
|
|
NM_016169.4(SUFU):c.757-5A>G
|
rs1590065871
|
|
|
NM_016169.4(SUFU):c.757-6A>G
|
rs2135881035
|
|
|
NM_016169.4(SUFU):c.757-7C>T
|
rs2135881029
|
|
|
NM_016169.4(SUFU):c.757G>A (p.Glu253Lys)
|
|
|
|
NM_016169.4(SUFU):c.758A>G (p.Glu253Gly)
|
rs2135881068
|
|
|
NM_016169.4(SUFU):c.761G>C (p.Arg254Thr)
|
rs2135881076
|
|
|
NM_016169.4(SUFU):c.762A>G (p.Arg254=)
|
rs2135881090
|
|
|
NM_016169.4(SUFU):c.771A>G (p.Lys257=)
|
|
|
|
NM_016169.4(SUFU):c.773G>C (p.Gly258Ala)
|
|
|
|
NM_016169.4(SUFU):c.774C>A (p.Gly258=)
|
rs2063470954
|
|
|
NM_016169.4(SUFU):c.775A>G (p.Ile259Val)
|
|
|
|
NM_016169.4(SUFU):c.777C>A (p.Ile259=)
|
|
|
|
NM_016169.4(SUFU):c.777C>G (p.Ile259Met)
|
rs749533220
|
|
|
NM_016169.4(SUFU):c.778G>C (p.Glu260Gln)
|
rs775245784
|
|
|
NM_016169.4(SUFU):c.781A>C (p.Thr261Pro)
|
rs2063471103
|
|
|
NM_016169.4(SUFU):c.782C>T (p.Thr261Ile)
|
rs2135881195
|
|
|
NM_016169.4(SUFU):c.78C>T (p.Phe26=)
|
rs2135597954
|
|
|
NM_016169.4(SUFU):c.791C>G (p.Ser264Cys)
|
|
|
|
NM_016169.4(SUFU):c.793A>T (p.Asn265Tyr)
|
|
|
|
NM_016169.4(SUFU):c.795C>T (p.Asn265=)
|
rs2135881259
|
|
|
NM_016169.4(SUFU):c.79G>A (p.Ala27Thr)
|
rs2062291537
|
|
|
NM_016169.4(SUFU):c.803G>A (p.Gly268Asp)
|
|
|
|
NM_016169.4(SUFU):c.804T>C (p.Gly268=)
|
rs2135881315
|
|
|
NM_016169.4(SUFU):c.809G>A (p.Ser270Asn)
|
|
|
|
NM_016169.4(SUFU):c.80C>T (p.Ala27Val)
|
rs1664857380
|
|
|
NM_016169.4(SUFU):c.810T>G (p.Ser270Arg)
|
rs2063471312
|
|
|
NM_016169.4(SUFU):c.811_818dup (p.Cys273fs)
|
rs2063471372
|
|
|
NM_016169.4(SUFU):c.812C>A (p.Ala271Asp)
|
|
|
|
NM_016169.4(SUFU):c.815A>C (p.Lys272Thr)
|
|
|
|
NM_016169.4(SUFU):c.815A>G (p.Lys272Arg)
|
rs2063471403
|
|
|
NM_016169.4(SUFU):c.81T>G (p.Ala27=)
|
|
|
|
NM_016169.4(SUFU):c.820G>A (p.Ala274Thr)
|
|
|
|
NM_016169.4(SUFU):c.822C>T (p.Ala274=)
|
rs2135881424
|
|
|
NM_016169.4(SUFU):c.824G>A (p.Trp275Ter)
|
rs1564698683
|
|
|
NM_016169.4(SUFU):c.825G>A (p.Trp275Ter)
|
rs1590065940
|
|
|
NM_016169.4(SUFU):c.826G>A (p.Asp276Asn)
|
|
|
|
NM_016169.4(SUFU):c.826G>T (p.Asp276Tyr)
|
|
|
|
NM_016169.4(SUFU):c.827A>T (p.Asp276Val)
|
rs772598822
|
|
|
NM_016169.4(SUFU):c.828T>C (p.Asp276=)
|
|
|
|
NM_016169.4(SUFU):c.82T>G (p.Ser28Ala)
|
|
|
|
NM_016169.4(SUFU):c.82_86del (p.Ser28fs)
|
rs2135597925
|
|
|
NM_016169.4(SUFU):c.831C>A (p.Asp277Glu)
|
|
|
|
NM_016169.4(SUFU):c.831C>T (p.Asp277=)
|
rs1340330498
|
|
|
NM_016169.4(SUFU):c.832C>T (p.Leu278=)
|
rs1060504147
|
|
|
NM_016169.4(SUFU):c.834G>A (p.Leu278=)
|
|
|
|
NM_016169.4(SUFU):c.834G>C (p.Leu278=)
|
rs773747013
|
|
|
NM_016169.4(SUFU):c.836G>A (p.Ser279Asn)
|
rs1486885056
|
|
|
NM_016169.4(SUFU):c.837C>G (p.Ser279Arg)
|
rs1564698718
|
|
|
NM_016169.4(SUFU):c.838C>A (p.Arg280=)
|
|
|
|
NM_016169.4(SUFU):c.840G>T (p.Arg280=)
|
|
|
|
NM_016169.4(SUFU):c.841C>A (p.Pro281Thr)
|
rs2063471841
|
|
|
NM_016169.4(SUFU):c.841C>G (p.Pro281Ala)
|
|
|
|
NM_016169.4(SUFU):c.841C>T (p.Pro281Ser)
|
rs2063471841
|
|
|
NM_016169.4(SUFU):c.843C>A (p.Pro281=)
|
rs1590066015
|
|
|
NM_016169.4(SUFU):c.844C>G (p.Pro282Ala)
|
rs1215810497
|
|
|
NM_016169.4(SUFU):c.846C>A (p.Pro282=)
|
rs762558038
|
|
|
NM_016169.4(SUFU):c.846C>G (p.Pro282=)
|
rs762558038
|
|
|
NM_016169.4(SUFU):c.846dup (p.Glu283fs)
|
rs1477199832
|
|
|
NM_016169.4(SUFU):c.847G>A (p.Glu283Lys)
|
rs1554852789
|
|
|
NM_016169.4(SUFU):c.847G>C (p.Glu283Gln)
|
rs1554852789
|
|
|
NM_016169.4(SUFU):c.847dup (p.Glu283fs)
|
rs2063472158
|
|
|
NM_016169.4(SUFU):c.848A>C (p.Glu283Ala)
|
|
|
|
NM_016169.4(SUFU):c.84G>C (p.Ser28=)
|
rs376752468
|
|
|
NM_016169.4(SUFU):c.852T>A (p.Asp284Glu)
|
|
|
|
NM_016169.4(SUFU):c.852_860dup (p.Asp285_Asp287dup)
|
rs2135881773
|
|
|
NM_016169.4(SUFU):c.853G>A (p.Asp285Asn)
|
|
|
|
NM_016169.4(SUFU):c.853_861dup (p.Asp285_Asp287dup)
|
rs1363458155
|
|
|
NM_016169.4(SUFU):c.855C>G (p.Asp285Glu)
|
rs200206997
|
|
|
NM_016169.4(SUFU):c.858G>A (p.Glu286=)
|
|
|
|
NM_016169.4(SUFU):c.858G>C (p.Glu286Asp)
|
rs1007675139
|
|
|
NM_016169.4(SUFU):c.859G>A (p.Asp287Asn)
|
rs750436246
|
|
|
NM_016169.4(SUFU):c.859_863dup (p.Ser288fs)
|
rs2135881899
|
|
|
NM_016169.4(SUFU):c.862A>T (p.Ser288Cys)
|
rs2135881950
|
|
|
NM_016169.4(SUFU):c.865C>G (p.Arg289Gly)
|
rs755961394
|
|
|
NM_016169.4(SUFU):c.865C>T (p.Arg289Trp)
|
rs755961394
|
|
|
NM_016169.4(SUFU):c.868A>G (p.Ser290Gly)
|
rs1406131774
|
|
|
NM_016169.4(SUFU):c.869G>A (p.Ser290Asn)
|
rs749461207
|
|
|
NM_016169.4(SUFU):c.86T>G (p.Leu29Arg)
|
rs2062291773
|
|
|
NM_016169.4(SUFU):c.870C>T (p.Ser290=)
|
rs970618921
|
|
|
NM_016169.4(SUFU):c.872T>A (p.Ile291Asn)
|
|
|
|
NM_016169.4(SUFU):c.875G>A (p.Cys292Tyr)
|
rs193921097
|
|
|
NM_016169.4(SUFU):c.875G>T (p.Cys292Phe)
|
rs193921097
|
|
|
NM_016169.4(SUFU):c.876C>T (p.Cys292=)
|
|
|
|
NM_016169.4(SUFU):c.877A>C (p.Ile293Leu)
|
|
|
|
NM_016169.4(SUFU):c.877A>G (p.Ile293Val)
|
rs574002050
|
|
|
NM_016169.4(SUFU):c.878T>A (p.Ile293Asn)
|
rs1487599100
|
|
|
NM_016169.4(SUFU):c.87C>T (p.Leu29=)
|
rs2135598027
|
|
|
NM_016169.4(SUFU):c.87_88del (p.Phe30fs)
|
|
|
|
NM_016169.4(SUFU):c.881G>A (p.Gly294Asp)
|
rs761234425
|
|
|
NM_016169.4(SUFU):c.882C>T (p.Gly294=)
|
rs2135882176
|
|
|
NM_016169.4(SUFU):c.883A>G (p.Thr295Ala)
|
|
|
|
NM_016169.4(SUFU):c.885A>C (p.Thr295=)
|
|
|
|
NM_016169.4(SUFU):c.885A>G (p.Thr295=)
|
rs2135882202
|
|
|
NM_016169.4(SUFU):c.886C>T (p.Gln296Ter)
|
rs2135882212
|
|
|
NM_016169.4(SUFU):c.887A>G (p.Gln296Arg)
|
rs2135882221
|
|
|
NM_016169.4(SUFU):c.890C>G (p.Pro297Arg)
|
|
|
|
NM_016169.4(SUFU):c.890C>T (p.Pro297Leu)
|
rs1590066137
|
|
|
NM_016169.4(SUFU):c.891C>G (p.Pro297=)
|
rs1590066144
|
|
|
NM_016169.4(SUFU):c.892C>G (p.Arg298Gly)
|
|
|
|
NM_016169.4(SUFU):c.892del (p.Arg298fs)
|
rs2063473101
|
|
|
NM_016169.4(SUFU):c.893G>A (p.Arg298Gln)
|
rs1197687313
|
|
|
NM_016169.4(SUFU):c.893_894insTGCCCCG (p.Arg299fs)
|
rs2135882232
|
|
|
NM_016169.4(SUFU):c.894dup (p.Arg299fs)
|
|
|
|
NM_016169.4(SUFU):c.895C>G (p.Arg299Gly)
|
|
|
|
NM_016169.4(SUFU):c.895C>T (p.Arg299Ter)
|
rs1590066162
|
|
|
NM_016169.4(SUFU):c.895_896insTGTGT (p.Arg299fs)
|
rs1564698850
|
|
|
NM_016169.4(SUFU):c.897_898insAGGTGCCGGGCACACAGCCCCGGCGAAGAGTGTGCATCGGCACA (p.Leu300fs)
|
|
|
|
NM_016169.4(SUFU):c.8A>G (p.Glu3Gly)
|
rs757097388
|
|
|
NM_016169.4(SUFU):c.900C>T (p.Leu300=)
|
rs1174044335
|
|
|
NM_016169.4(SUFU):c.902C>G (p.Ser301Cys)
|
rs1554852823
|
|
|
NM_016169.4(SUFU):c.902C>T (p.Ser301Phe)
|
rs1554852823
|
|
|
NM_016169.4(SUFU):c.907A>G (p.Lys303Glu)
|
|
|
|
NM_016169.4(SUFU):c.90T>C (p.Phe30=)
|
rs1589970035
|
|
|
NM_016169.4(SUFU):c.910+13A>G
|
|
|
|
NM_016169.4(SUFU):c.910+15T>G
|
|
|
|
NM_016169.4(SUFU):c.910+4G>A
|
rs1060501104
|
|
|
NM_016169.4(SUFU):c.910+5G>A
|
rs2135882479
|
|
|
NM_016169.4(SUFU):c.910+7G>A
|
|
|
|
NM_016169.4(SUFU):c.910+7G>C
|
|
|
|
NM_016169.4(SUFU):c.910G>A (p.Asp304Asn)
|
|
|
|
NM_016169.4(SUFU):c.910G>T (p.Asp304Tyr)
|
|
|
|
NM_016169.4(SUFU):c.911-10G>A
|
|
|
|
NM_016169.4(SUFU):c.911-10G>T
|
rs747454071
|
|
|
NM_016169.4(SUFU):c.911-12G>A
|
rs1455480257
|
|
|
NM_016169.4(SUFU):c.911-14T>C
|
|
|
|
NM_016169.4(SUFU):c.911-17T>C
|
rs2063494764
|
|
|
NM_016169.4(SUFU):c.911-1G>T
|
|
|
|
NM_016169.4(SUFU):c.911-2A>C
|
|
|
|
NM_016169.4(SUFU):c.911-4G>A
|
|
|
|
NM_016169.4(SUFU):c.911-4G>T
|
rs2135888490
|
|
|
NM_016169.4(SUFU):c.911-8C>T
|
rs771361493
|
|
|
NM_016169.4(SUFU):c.912C>T (p.Asp304=)
|
|
|
|
NM_016169.4(SUFU):c.913A>G (p.Thr305Ala)
|
rs1590067989
|
|
|
NM_016169.4(SUFU):c.913A>T (p.Thr305Ser)
|
rs1590067989
|
|
|
NM_016169.4(SUFU):c.915A>G (p.Thr305=)
|
|
|
|
NM_016169.4(SUFU):c.91C>A (p.Pro31Thr)
|
rs1554840836
|
|
|
NM_016169.4(SUFU):c.91C>G (p.Pro31Ala)
|
rs1554840836
|
|
|
NM_016169.4(SUFU):c.91C>T (p.Pro31Ser)
|
rs1554840836
|
|
|
NM_016169.4(SUFU):c.924C>G (p.Ile308Met)
|
|
|
|
NM_016169.4(SUFU):c.927G>A (p.Arg309=)
|
|
|
|
NM_016169.4(SUFU):c.928G>C (p.Glu310Gln)
|
rs376797758
|
|
|
NM_016169.4(SUFU):c.92C>T (p.Pro31Leu)
|
rs2135598089
|
|
|
NM_016169.4(SUFU):c.933C>T (p.Thr311=)
|
rs767071744
|
|
|
NM_016169.4(SUFU):c.934del (p.Thr311_Leu312insTer)
|
rs2135888594
|
|
|
NM_016169.4(SUFU):c.938G>A (p.Arg313Lys)
|
|
|
|
NM_016169.4(SUFU):c.939G>A (p.Arg313=)
|
|
|
|
NM_016169.4(SUFU):c.941G>A (p.Arg314Lys)
|
rs369741612
|
|
|
NM_016169.4(SUFU):c.944G>A (p.Gly315Glu)
|
rs2135888649
|
|
|
NM_016169.4(SUFU):c.946C>T (p.Leu316Phe)
|
rs1554853004
|
|
|
NM_016169.4(SUFU):c.948C>T (p.Leu316=)
|
rs1236947004
|
|
|
NM_016169.4(SUFU):c.949_954del (p.Glu317_Ile318del)
|
rs2063495678
|
|
|
NM_016169.4(SUFU):c.951G>A (p.Glu317=)
|
|
|
|
NM_016169.4(SUFU):c.956A>G (p.Asn319Ser)
|
rs1479527039
|
|
|
NM_016169.4(SUFU):c.959G>A (p.Ser320Asn)
|
rs753862598
|
|
|
NM_016169.4(SUFU):c.959G>C (p.Ser320Thr)
|
rs753862598
|
|
|
NM_016169.4(SUFU):c.95C>T (p.Pro32Leu)
|
rs2135598107
|
|
|
NM_016169.4(SUFU):c.95del (p.Pro32fs)
|
|
|
|
NM_016169.4(SUFU):c.960C>A (p.Ser320Arg)
|
rs754716152
|
|
|
NM_016169.4(SUFU):c.964C>G (p.Pro322Ala)
|
|
|
|
NM_016169.4(SUFU):c.965C>A (p.Pro322His)
|
rs2135888788
|
|
|
NM_016169.4(SUFU):c.965C>T (p.Pro322Leu)
|
|
|
|
NM_016169.4(SUFU):c.969C>G (p.Val323=)
|
|
|
|
NM_016169.4(SUFU):c.970C>T (p.Leu324Phe)
|
rs2063495996
|
|
|
NM_016169.4(SUFU):c.972T>C (p.Leu324=)
|
|
|
|
NM_016169.4(SUFU):c.974C>T (p.Pro325Leu)
|
rs2135888846
|
|
|
NM_016169.4(SUFU):c.978A>G (p.Pro326=)
|
|
|
|
NM_016169.4(SUFU):c.978A>T (p.Pro326=)
|
rs2135888873
|
|
|
NM_016169.4(SUFU):c.983A>G (p.Asn328Ser)
|
rs2135888901
|
|
|
NM_016169.4(SUFU):c.985C>G (p.Pro329Ala)
|
rs2063496120
|
|
|
NM_016169.4(SUFU):c.985C>T (p.Pro329Ser)
|
|
|
|
NM_016169.4(SUFU):c.987T>G (p.Pro329=)
|
rs906267027
|
|
|
NM_016169.4(SUFU):c.989A>G (p.Gln330Arg)
|
rs1060501107
|
|
|
NM_016169.4(SUFU):c.997A>G (p.Asn333Asp)
|
|
|
|
NM_016373.4(WWOX):c.1003T>A (p.Trp335Arg)
|
|
|
|
NM_016373.4(WWOX):c.1011G>C (p.Val337=)
|
rs773816992
|
|
|
NM_016373.4(WWOX):c.1015A>C (p.Thr339Pro)
|
rs1429449710
|
|
|
NM_016373.4(WWOX):c.1016C>T (p.Thr339Ile)
|
|
|
|
NM_016373.4(WWOX):c.101A>G (p.Tyr34Cys)
|
rs766309882
|
|
|
NM_016373.4(WWOX):c.1021C>T (p.Leu341=)
|
rs201616456
|
|
|
NM_016373.4(WWOX):c.1023G>C (p.Leu341=)
|
|
|
|
NM_016373.4(WWOX):c.102C>T (p.Tyr34=)
|
|
|
|
NM_016373.4(WWOX):c.1035del (p.Arg346fs)
|
|
|
|
NM_016373.4(WWOX):c.1039C>G (p.Pro347Ala)
|
rs200699154
|
|
|
NM_016373.4(WWOX):c.1043del (p.Phe348fs)
|
rs1064795117
|
|
|
NM_016373.4(WWOX):c.1047C>A (p.Thr349=)
|
rs940453353
|
|
|
NM_016373.4(WWOX):c.1048A>G (p.Lys350Glu)
|
rs2151386361
|
|
|
NM_016373.4(WWOX):c.1050G>A (p.Lys350=)
|
rs2151386362
|
|
|
NM_016373.4(WWOX):c.1051T>C (p.Ser351Pro)
|
rs1266850996
|
|
|
NM_016373.4(WWOX):c.1052C>T (p.Ser351Phe)
|
|
|
|
NM_016373.4(WWOX):c.1055T>C (p.Met352Thr)
|
|
|
|
NM_016373.4(WWOX):c.1056+13C>A
|
|
|
|
NM_016373.4(WWOX):c.1056+18G>A
|
|
|
|
NM_016373.4(WWOX):c.1056+20C>T
|
|
|
|
NM_016373.4(WWOX):c.1056+7_1056+9del
|
|
|
|
NM_016373.4(WWOX):c.1057-10G>C
|
|
|
|
NM_016373.4(WWOX):c.1057-13_1057-11del
|
|
|
|
NM_016373.4(WWOX):c.1057-14T>C
|
rs66481974
|
|
|
NM_016373.4(WWOX):c.1057-14_1057-13insTCTC
|
|
|
|
NM_016373.4(WWOX):c.1057-17_1057-14del
|
rs750753794
|
|
|
NM_016373.4(WWOX):c.1057-18_1057-17dup
|
rs1412456452
|
|
|
NM_016373.4(WWOX):c.1057-20C>T
|
|
|
|
NM_016373.4(WWOX):c.1057-22_1057-19del
|
|
|
|
NM_016373.4(WWOX):c.1057-22_1057-20del
|
rs2150867224
|
|
|
NM_016373.4(WWOX):c.1057-2A>G
|
rs1233583078
|
|
|
NM_016373.4(WWOX):c.1057-3C>T
|
rs143302415
|
|
|
NM_016373.4(WWOX):c.1057-7T>C
|
|
|
|
NM_016373.4(WWOX):c.1057-9G>C
|
|
|
|
NM_016373.4(WWOX):c.1057-9_1057-6dup
|
rs2150867300
|
|
|
NM_016373.4(WWOX):c.1057C>T (p.Gln353Ter)
|
rs770155582
|
|
|
NM_016373.4(WWOX):c.1059A>C (p.Gln353His)
|
|
|
|
NM_016373.4(WWOX):c.1063G>A (p.Gly355Arg)
|
rs2051753978
|
|
|
NM_016373.4(WWOX):c.1067C>T (p.Ala356Val)
|
|
|
|
NM_016373.4(WWOX):c.1069G>A (p.Ala357Thr)
|
|
|
|
NM_016373.4(WWOX):c.107+10C>G
|
|
|
|
NM_016373.4(WWOX):c.107+10C>T
|
|
|
|
NM_016373.4(WWOX):c.107+12G>C
|
|
|
|
NM_016373.4(WWOX):c.107+13C>T
|
|
|
|
NM_016373.4(WWOX):c.107+15G>A
|
|
|
|
NM_016373.4(WWOX):c.107+17G>C
|
|
|
|
NM_016373.4(WWOX):c.107+1G>A
|
rs1300924648
|
|
|
NM_016373.4(WWOX):c.107+1_107+2delinsTA
|
|
|
|
NM_016373.4(WWOX):c.107+9del
|
rs2151651994
|
|
|
NM_016373.4(WWOX):c.1072A>C (p.Thr358Pro)
|
rs1567624901
|
|
|
NM_016373.4(WWOX):c.1073C>G (p.Thr358Ser)
|
rs1555547940
|
|
|
NM_016373.4(WWOX):c.1073C>T (p.Thr358Ile)
|
rs1555547940
|
|
|
NM_016373.4(WWOX):c.1077C>G (p.Thr359=)
|
rs150912992
|
|
|
NM_016373.4(WWOX):c.107A>T (p.Asn36Ile)
|
rs1316489119
|
|
|
NM_016373.4(WWOX):c.108-12G>C
|
|
|
|
NM_016373.4(WWOX):c.108-12_108-11del
|
rs756598479
|
|
|
NM_016373.4(WWOX):c.108-12_108-6del
|
|
|
|
NM_016373.4(WWOX):c.108-13dup
|
rs146697931
|
|
|
NM_016373.4(WWOX):c.108-14T>C
|
|
|
|
NM_016373.4(WWOX):c.108-14_108-13dup
|
rs146697931
|
|
|
NM_016373.4(WWOX):c.108-19A>T
|
|
|
|
NM_016373.4(WWOX):c.108-20G>A
|
rs760210735
|
|
|
NM_016373.4(WWOX):c.108-6dup
|
rs754221329
|
|
|
NM_016373.4(WWOX):c.108-7T>C
|
rs2151665632
|
|
|
NM_016373.4(WWOX):c.1083C>T (p.Tyr361=)
|
|
|
|
NM_016373.4(WWOX):c.1084T>C (p.Cys362Arg)
|
rs2051754918
|
|
|
NM_016373.4(WWOX):c.1086T>C (p.Cys362=)
|
rs755448649
|
|
|
NM_016373.4(WWOX):c.108_112dup (p.Thr38fs)
|
|
|
|
NM_016373.4(WWOX):c.109C>G (p.His37Asp)
|
rs770653451
|
|
|
NM_016373.4(WWOX):c.10C>G (p.Leu4Val)
|
rs751733610
|
|
|
NM_016373.4(WWOX):c.1102C>T (p.Leu368=)
|
|
|
|
NM_016373.4(WWOX):c.1103T>G (p.Leu368Arg)
|
|
|
|
NM_016373.4(WWOX):c.1109G>A (p.Gly370Asp)
|
rs780816542
|
|
|
NM_016373.4(WWOX):c.1110T>A (p.Gly370=)
|
rs901897952
|
|
|
NM_016373.4(WWOX):c.1110T>G (p.Gly370=)
|
|
|
|
NM_016373.4(WWOX):c.1110_1119del (p.Leu371fs)
|
rs2051756247
|
|
|
NM_016373.4(WWOX):c.1112T>G (p.Leu371Arg)
|
|
|
|
NM_016373.4(WWOX):c.1113G>A (p.Leu371=)
|
|
|
|
NM_016373.4(WWOX):c.1113G>T (p.Leu371=)
|
rs2150867604
|
|
|
NM_016373.4(WWOX):c.1114G>A (p.Gly372Arg)
|
rs587777127
|
|
|
NM_016373.4(WWOX):c.1114G>T (p.Gly372Ter)
|
rs587777127
|
|
|
NM_016373.4(WWOX):c.1115G>A (p.Gly372Glu)
|
rs1064793798
|
|
|
NM_016373.4(WWOX):c.1117G>A (p.Gly373Arg)
|
rs1400576596
|
|
|
NM_016373.4(WWOX):c.1118G>T (p.Gly373Val)
|
rs769877812
|
|
|
NM_016373.4(WWOX):c.1119G>C (p.Gly373=)
|
|
|
|
NM_016373.4(WWOX):c.1128C>T (p.Phe376=)
|
rs1417388410
|
|
|
NM_016373.4(WWOX):c.1130A>G (p.Asn377Ser)
|
|
|
|
NM_016373.4(WWOX):c.1131C>A (p.Asn377Lys)
|
rs377129275
|
|
|
NM_016373.4(WWOX):c.1132_1133delinsTG (p.Asn378Cys)
|
rs2051758116
|
|
|
NM_016373.4(WWOX):c.1134C>G (p.Asn378Lys)
|
rs201088847
|
|
|
NM_016373.4(WWOX):c.1141C>A (p.Arg381Ser)
|
rs200461412
|
|
|
NM_016373.4(WWOX):c.1142G>C (p.Arg381Pro)
|
rs202002431
|
|
|
NM_016373.4(WWOX):c.1142G>T (p.Arg381Leu)
|
rs202002431
|
|
|
NM_016373.4(WWOX):c.1148T>C (p.Met383Thr)
|
rs1567625134
|
|
|
NM_016373.4(WWOX):c.1151C>G (p.Pro384Arg)
|
rs2051759512
|
|
|
NM_016373.4(WWOX):c.1155A>C (p.Ser385=)
|
rs1414101968
|
|
|
NM_016373.4(WWOX):c.1156C>T (p.Pro386Ser)
|
|
|
|
NM_016373.4(WWOX):c.1157C>T (p.Pro386Leu)
|
rs1351213477
|
|
|
NM_016373.4(WWOX):c.115GAG[1] (p.Glu40del)
|
rs1301923654
|
|
|
NM_016373.4(WWOX):c.1162G>C (p.Ala388Pro)
|
rs1060502729
|
|
|
NM_016373.4(WWOX):c.1165C>T (p.Gln389Ter)
|
rs1484856529
|
|
|
NM_016373.4(WWOX):c.1170C>A (p.Ser390Arg)
|
rs372635911
|
|
|
NM_016373.4(WWOX):c.1170C>G (p.Ser390Arg)
|
rs372635911
|
|
|
NM_016373.4(WWOX):c.1171G>A (p.Glu391Lys)
|
rs375757102
|
|
|
NM_016373.4(WWOX):c.1171G>C (p.Glu391Gln)
|
rs375757102
|
|
|
NM_016373.4(WWOX):c.1175A>T (p.Glu392Val)
|
rs1287638259
|
|
|
NM_016373.4(WWOX):c.1176G>T (p.Glu392Asp)
|
rs763482100
|
|
|
NM_016373.4(WWOX):c.1178C>G (p.Thr393Arg)
|
|
|
|
NM_016373.4(WWOX):c.1179_1210del (p.Ala394fs)
|
rs1064792969
|
|
|
NM_016373.4(WWOX):c.1180G>A (p.Ala394Thr)
|
rs767286260
|
|
|
NM_016373.4(WWOX):c.1182C>G (p.Ala394=)
|
|
|
|
NM_016373.4(WWOX):c.1183C>A (p.Arg395=)
|
|
|
|
NM_016373.4(WWOX):c.1183C>G (p.Arg395Gly)
|
rs750042007
|
|
|
NM_016373.4(WWOX):c.1185G>C (p.Arg395=)
|
rs1296581246
|
|
|
NM_016373.4(WWOX):c.1188C>A (p.Thr396=)
|
rs923268639
|
|
|
NM_016373.4(WWOX):c.1189C>T (p.Leu397=)
|
|
|
|
NM_016373.4(WWOX):c.1191G>C (p.Leu397=)
|
rs749223740
|
|
|
NM_016373.4(WWOX):c.1197G>T (p.Ala399=)
|
rs376935572
|
|
|
NM_016373.4(WWOX):c.1203C>G (p.Ser401Arg)
|
|
|
|
NM_016373.4(WWOX):c.1204G>A (p.Glu402Lys)
|
rs200839945
|
|
|
NM_016373.4(WWOX):c.1204G>C (p.Glu402Gln)
|
rs200839945
|
|
|
NM_016373.4(WWOX):c.1206G>A (p.Glu402=)
|
rs923748427
|
|
|
NM_016373.4(WWOX):c.1209G>A (p.Arg403=)
|
rs764726398
|
|
|
NM_016373.4(WWOX):c.1216C>G (p.Gln406Glu)
|
rs1197462916
|
|
|
NM_016373.4(WWOX):c.1218A>C (p.Gln406His)
|
rs767985798
|
|
|
NM_016373.4(WWOX):c.1218A>G (p.Gln406=)
|
|
|
|
NM_016373.4(WWOX):c.1219_1220inv (p.Glu407Ser)
|
|
|
|
NM_016373.4(WWOX):c.1222C>G (p.Arg408Gly)
|
rs144234059
|
|
|
NM_016373.4(WWOX):c.1223G>A (p.Arg408Gln)
|
rs765857107
|
|
|
NM_016373.4(WWOX):c.1223G>T (p.Arg408Leu)
|
rs765857107
|
|
|
NM_016373.4(WWOX):c.1230C>A (p.Gly410=)
|
|
|
|
NM_016373.4(WWOX):c.1230C>G (p.Gly410=)
|
rs778834456
|
|
|
NM_016373.4(WWOX):c.1231_1233del (p.Ser411del)
|
rs770788315
|
|
|
NM_016373.4(WWOX):c.1232G>C (p.Ser411Thr)
|
|
|
|
NM_016373.4(WWOX):c.1236G>A (p.Gln412=)
|
|
|
|
NM_016373.4(WWOX):c.1238C>G (p.Ser413Cys)
|
rs117065412
|
|
|
NM_016373.4(WWOX):c.1239C>G (p.Ser413=)
|
rs199576434
|
|
|
NM_016373.4(WWOX):c.1239C>T (p.Ser413=)
|
rs199576434
|
|
|
NM_016373.4(WWOX):c.1240_*36del (p.Gly414_Ter415del)
|
rs2051765287
|
|
|
NM_016373.4(WWOX):c.1242C>T (p.Gly414=)
|
rs557367276
|
|
|
NM_016373.4(WWOX):c.1242del (p.Ter415LysextTer?)
|
|
|
|
NM_016373.4(WWOX):c.1244A>C (p.Ter415Ser)
|
rs2150868322
|
|
|
NM_016373.4(WWOX):c.1245A>C (p.Ter415Tyr)
|
|
|
|
NM_016373.4(WWOX):c.127C>T (p.Gln43Ter)
|
rs1284883505
|
|
|
NM_016373.4(WWOX):c.128A>G (p.Gln43Arg)
|
rs754384834
|
|
|
NM_016373.4(WWOX):c.12G>A (p.Leu4=)
|
rs2151651643
|
|
|
NM_016373.4(WWOX):c.131G>A (p.Trp44Ter)
|
rs1057517846
|
|
|
NM_016373.4(WWOX):c.138T>C (p.His46=)
|
|
|
|
NM_016373.4(WWOX):c.146C>G (p.Thr49Ser)
|
|
|
|
NM_016373.4(WWOX):c.152A>G (p.Lys51Arg)
|
rs2032292763
|
|
|
NM_016373.4(WWOX):c.15C>G (p.Arg5=)
|
rs2031625331
|
|
|
NM_016373.4(WWOX):c.160C>A (p.Arg54=)
|
rs587777248
|
|
|
NM_016373.4(WWOX):c.164T>G (p.Val55Gly)
|
rs775944673
|
|
|
NM_016373.4(WWOX):c.165G>A (p.Val55=)
|
|
|
|
NM_016373.4(WWOX):c.172+10T>A
|
rs2032295814
|
|
|
NM_016373.4(WWOX):c.172+15G>T
|
|
|
|
NM_016373.4(WWOX):c.172+17C>G
|
|
|
|
NM_016373.4(WWOX):c.172+9G>A
|
rs1220647416
|
|
|
NM_016373.4(WWOX):c.173-10T>G
|
rs960259890
|
|
|
NM_016373.4(WWOX):c.173-12C>G
|
|
|
|
NM_016373.4(WWOX):c.173-14T>G
|
|
|
|
NM_016373.4(WWOX):c.173-1G>C
|
|
|
|
NM_016373.4(WWOX):c.173-1G>T
|
|
|
|
NM_016373.4(WWOX):c.173-20C>G
|
|
|
|
NM_016373.4(WWOX):c.173-4T>G
|
|
|
|
NM_016373.4(WWOX):c.173A>G (p.Asp58Gly)
|
rs2032380473
|
|
|
NM_016373.4(WWOX):c.184G>C (p.Gly62Arg)
|
rs775696083
|
|
|
NM_016373.4(WWOX):c.18C>T (p.Tyr6=)
|
|
|
|
NM_016373.4(WWOX):c.1A>C (p.Met1Leu)
|
|
|
|
NM_016373.4(WWOX):c.200C>G (p.Thr67Ser)
|
rs752003995
|
|
|
NM_016373.4(WWOX):c.202G>T (p.Asp68Tyr)
|
rs2032382985
|
|
|
NM_016373.4(WWOX):c.203A>G (p.Asp68Gly)
|
rs1567575033
|
|
|
NM_016373.4(WWOX):c.214C>T (p.Gln72Ter)
|
rs201008667
|
|
|
NM_016373.4(WWOX):c.228T>A (p.Val76=)
|
rs370579498
|
|
|
NM_016373.4(WWOX):c.230+3A>T
|
rs746149234
|
|
|
NM_016373.4(WWOX):c.230+6T>C
|
|
|
|
NM_016373.4(WWOX):c.230+9C>T
|
rs1254974575
|
|
|
NM_016373.4(WWOX):c.230A>G (p.Asp77Gly)
|
rs2032385595
|
|
|
NM_016373.4(WWOX):c.231-10T>C
|
|
|
|
NM_016373.4(WWOX):c.231-16T>C
|
rs376333974
|
|
|
NM_016373.4(WWOX):c.231-17C>A
|
rs372361154
|
|
|
NM_016373.4(WWOX):c.231-17C>T
|
|
|
|
NM_016373.4(WWOX):c.231-18G>T
|
|
|
|
NM_016373.4(WWOX):c.231-5G>A
|
|
|
|
NM_016373.4(WWOX):c.231-7T>C
|
|
|
|
NM_016373.4(WWOX):c.231-8T>G
|
rs776271651
|
|
|
NM_016373.4(WWOX):c.233A>G (p.His78Arg)
|
rs375002918
|
|
|
NM_016373.4(WWOX):c.240T>C (p.Asn80=)
|
|
|
|
NM_016373.4(WWOX):c.248C>T (p.Thr83Ile)
|
rs751493396
|
|
|
NM_016373.4(WWOX):c.252C>T (p.Thr84=)
|
|
|
|
NM_016373.4(WWOX):c.253T>G (p.Tyr85Asp)
|
rs781063964
|
|
|
NM_016373.4(WWOX):c.255C>G (p.Tyr85Ter)
|
rs990150249
|
|
|
NM_016373.4(WWOX):c.261C>G (p.Asp87Glu)
|
rs368902462
|
|
|
NM_016373.4(WWOX):c.261C>T (p.Asp87=)
|
|
|
|
NM_016373.4(WWOX):c.262C>A (p.Pro88Thr)
|
|
|
|
NM_016373.4(WWOX):c.263C>G (p.Pro88Arg)
|
rs200371768
|
|
|
NM_016373.4(WWOX):c.266G>A (p.Arg89Lys)
|
rs2151674621
|
|
|
NM_016373.4(WWOX):c.272C>T (p.Ala91Val)
|
|
|
|
NM_016373.4(WWOX):c.276T>C (p.Phe92=)
|
|
|
|
NM_016373.4(WWOX):c.287A>T (p.Asp96Val)
|
rs776969977
|
|
|
NM_016373.4(WWOX):c.294G>A (p.Pro98=)
|
|
|
|
NM_016373.4(WWOX):c.294G>C (p.Pro98=)
|
rs200208343
|
|
|
NM_016373.4(WWOX):c.2T>C (p.Met1Thr)
|
|
|
|
NM_016373.4(WWOX):c.301C>T (p.Pro101Ser)
|
rs574637594
|
|
|
NM_016373.4(WWOX):c.305C>T (p.Thr102Ile)
|
rs2032705453
|
|
|
NM_016373.4(WWOX):c.306C>T (p.Thr102=)
|
|
|
|
NM_016373.4(WWOX):c.30C>T (p.Asp10=)
|
rs373146723
|
|
|
NM_016373.4(WWOX):c.310C>A (p.Arg104=)
|
rs750226191
|
|
|
NM_016373.4(WWOX):c.310C>T (p.Arg104Trp)
|
rs750226191
|
|
|
NM_016373.4(WWOX):c.319T>G (p.Tyr107Asp)
|
rs2151674746
|
|
|
NM_016373.4(WWOX):c.321C>G (p.Tyr107Ter)
|
rs373306276
|
|
|
NM_016373.4(WWOX):c.324C>A (p.Asp108Glu)
|
rs377442022
|
|
|
NM_016373.4(WWOX):c.32A>T (p.Asp11Val)
|
rs1597189624
|
|
|
NM_016373.4(WWOX):c.332C>T (p.Thr111Ile)
|
rs114755364
|
|
|
NM_016373.4(WWOX):c.333C>T (p.Thr111=)
|
|
|
|
NM_016373.4(WWOX):c.333del (p.Thr112fs)
|
rs2151674791
|
|
|
NM_016373.4(WWOX):c.340A>G (p.Met114Val)
|
rs1402250109
|
|
|
NM_016373.4(WWOX):c.341T>C (p.Met114Thr)
|
rs761906386
|
|
|
NM_016373.4(WWOX):c.349C>A (p.Leu117Ile)
|
rs1397160477
|
|
|
NM_016373.4(WWOX):c.353A>G (p.Gln118Arg)
|
rs752982374
|
|
|
NM_016373.4(WWOX):c.359G>A (p.Arg120Gln)
|
rs1355355411
|
|
|
NM_016373.4(WWOX):c.35C>G (p.Thr12Arg)
|
rs1567567249
|
|
|
NM_016373.4(WWOX):c.360G>A (p.Arg120=)
|
|
|
|
NM_016373.4(WWOX):c.362A>G (p.Asp121Gly)
|
rs576113059
|
|
|
NM_016373.4(WWOX):c.368C>T (p.Thr123Ile)
|
rs2151674876
|
|
|
NM_016373.4(WWOX):c.36G>A (p.Thr12=)
|
rs1438602210
|
|
|
NM_016373.4(WWOX):c.36G>C (p.Thr12=)
|
rs1438602210
|
|
|
NM_016373.4(WWOX):c.36G>T (p.Thr12=)
|
rs1438602210
|
|
|
NM_016373.4(WWOX):c.374A>G (p.Lys125Arg)
|
|
|
|
NM_016373.4(WWOX):c.375A>G (p.Lys125=)
|
|
|
|
NM_016373.4(WWOX):c.376G>C (p.Val126Leu)
|
rs2151674893
|
|
|
NM_016373.4(WWOX):c.389C>G (p.Thr130Ser)
|
|
|
|
NM_016373.4(WWOX):c.391G>A (p.Gly131Arg)
|
rs2151674915
|
|
|
NM_016373.4(WWOX):c.397A>T (p.Asn133Tyr)
|
|
|
|
NM_016373.4(WWOX):c.408A>G (p.Ile136Met)
|
|
|
|
NM_016373.4(WWOX):c.409+10T>C
|
rs2151674977
|
|
|
NM_016373.4(WWOX):c.409+16A>C
|
rs12934985
|
|
|
NM_016373.4(WWOX):c.409+16A>G
|
rs12934985
|
|
|
NM_016373.4(WWOX):c.409+16A>T
|
rs12934985
|
|
|
NM_016373.4(WWOX):c.409+16_409+17delinsCA
|
rs2151674999
|
|
|
NM_016373.4(WWOX):c.409+17G>T
|
rs771445250
|
|
|
NM_016373.4(WWOX):c.409+1G>C
|
rs1060502727
|
|
|
NM_016373.4(WWOX):c.409+4G>A
|
rs2032715333
|
|
|
NM_016373.4(WWOX):c.409+6C>T
|
|
|
|
NM_016373.4(WWOX):c.409+8C>G
|
|
|
|
NM_016373.4(WWOX):c.410-14C>T
|
|
|
|
NM_016373.4(WWOX):c.410-15T>A
|
|
|
|
NM_016373.4(WWOX):c.410-4A>G
|
rs183410581
|
|
|
NM_016373.4(WWOX):c.410-6C>G
|
rs1488901499
|
|
|
NM_016373.4(WWOX):c.410-6C>T
|
rs1488901499
|
|
|
NM_016373.4(WWOX):c.410G>C (p.Gly137Ala)
|
rs761879076
|
|
|
NM_016373.4(WWOX):c.411G>T (p.Gly137=)
|
rs1172090882
|
|
|
NM_016373.4(WWOX):c.415G>C (p.Glu139Gln)
|
rs764089824
|
|
|
NM_016373.4(WWOX):c.422C>T (p.Ala141Val)
|
rs990349398
|
|
|
NM_016373.4(WWOX):c.423C>G (p.Ala141=)
|
|
|
|
NM_016373.4(WWOX):c.427_478dup (p.Arg160fs)
|
|
|
|
NM_016373.4(WWOX):c.440A>C (p.His147Pro)
|
rs188859796
|
|
|
NM_016373.4(WWOX):c.446C>G (p.Ala149Gly)
|
rs1024835941
|
|
|
NM_016373.4(WWOX):c.446C>T (p.Ala149Val)
|
rs1024835941
|
|
|
NM_016373.4(WWOX):c.449A>T (p.His150Leu)
|
|
|
|
NM_016373.4(WWOX):c.454A>G (p.Ile152Val)
|
rs961514796
|
|
|
NM_016373.4(WWOX):c.459G>A (p.Leu153=)
|
|
|
|
NM_016373.4(WWOX):c.45G>A (p.Glu15=)
|
rs770319919
|
|
|
NM_016373.4(WWOX):c.45G>T (p.Glu15Asp)
|
rs770319919
|
|
|
NM_016373.4(WWOX):c.462C>G (p.Ala154=)
|
rs1167825014
|
|
|
NM_016373.4(WWOX):c.462C>T (p.Ala154=)
|
rs1167825014
|
|
|
NM_016373.4(WWOX):c.468G>A (p.Arg156=)
|
|
|
|
NM_016373.4(WWOX):c.46_49del (p.Asp16fs)
|
rs730880291
|
|
|
NM_016373.4(WWOX):c.477A>T (p.Ala159=)
|
|
|
|
NM_016373.4(WWOX):c.480G>A (p.Arg160=)
|
rs919851150
|
|
|
NM_016373.4(WWOX):c.483G>A (p.Ala161=)
|
rs143067173
|
|
|
NM_016373.4(WWOX):c.490G>A (p.Ala164Thr)
|
rs2034896161
|
|
|
NM_016373.4(WWOX):c.495G>C (p.Val165=)
|
|
|
|
NM_016373.4(WWOX):c.498A>G (p.Ser166=)
|
|
|
|
NM_016373.4(WWOX):c.513A>G (p.Glu171=)
|
rs1060502728
|
|
|
NM_016373.4(WWOX):c.516+12A>G
|
|
|
|
NM_016373.4(WWOX):c.516+14T>A
|
rs779863445
|
|
|
NM_016373.4(WWOX):c.516+14TGT[2]
|
rs757933432
|
|
|
NM_016373.4(WWOX):c.516+16T>C
|
|
|
|
NM_016373.4(WWOX):c.516+19T>A
|
rs2034899735
|
|
|
NM_016373.4(WWOX):c.516+6_516+7delinsCT
|
rs2151735603
|
|
|
NM_016373.4(WWOX):c.516+6_516+7inv
|
|
|
|
NM_016373.4(WWOX):c.517-10C>T
|
|
|
|
NM_016373.4(WWOX):c.517-11T>C
|
rs2151934076
|
|
|
NM_016373.4(WWOX):c.517-12C>A
|
rs373188700
|
|
|
NM_016373.4(WWOX):c.517-19T>C
|
rs1057518552
|
|
|
NM_016373.4(WWOX):c.517-1G>T
|
rs867163041
|
|
|
NM_016373.4(WWOX):c.517-20T>C
|
rs2151934070
|
|
|
NM_016373.4(WWOX):c.517-4G>A
|
|
|
|
NM_016373.4(WWOX):c.517-4G>C
|
|
|
|
NM_016373.4(WWOX):c.517-6T>C
|
|
|
|
NM_016373.4(WWOX):c.517-8C>T
|
|
|
|
NM_016373.4(WWOX):c.517-9T>C
|
|
|
|
NM_016373.4(WWOX):c.520A>G (p.Lys174Glu)
|
rs766451936
|
|
|
NM_016373.4(WWOX):c.525C>G (p.Ala175=)
|
|
|
|
NM_016373.4(WWOX):c.52C>A (p.Leu18Met)
|
rs776553279
|
|
|
NM_016373.4(WWOX):c.52C>G (p.Leu18Val)
|
rs776553279
|
|
|
NM_016373.4(WWOX):c.530T>C (p.Val177Ala)
|
rs2151934103
|
|
|
NM_016373.4(WWOX):c.531A>G (p.Val177=)
|
rs1451196383
|
|
|
NM_016373.4(WWOX):c.535G>A (p.Ala179Thr)
|
rs11545029
|
|
|
NM_016373.4(WWOX):c.535G>C (p.Ala179Pro)
|
rs11545029
|
|
|
NM_016373.4(WWOX):c.535G>T (p.Ala179Ser)
|
rs11545029
|
|
|
NM_016373.4(WWOX):c.543C>G (p.Thr181=)
|
|
|
|
NM_016373.4(WWOX):c.544C>G (p.Leu182Val)
|
|
|
|
NM_016373.4(WWOX):c.545T>C (p.Leu182Pro)
|
rs2082072058
|
|
|
NM_016373.4(WWOX):c.550C>T (p.Leu184Phe)
|
rs753965511
|
|
|
NM_016373.4(WWOX):c.552C>G (p.Leu184=)
|
rs199715254
|
|
|
NM_016373.4(WWOX):c.552dup (p.Ala185fs)
|
|
|
|
NM_016373.4(WWOX):c.554C>T (p.Ala185Val)
|
|
|
|
NM_016373.4(WWOX):c.555T>A (p.Ala185=)
|
rs748722105
|
|
|
NM_016373.4(WWOX):c.556C>G (p.Leu186Val)
|
rs772539448
|
|
|
NM_016373.4(WWOX):c.556C>T (p.Leu186=)
|
rs772539448
|
|
|
NM_016373.4(WWOX):c.558G>A (p.Leu186=)
|
rs1464156122
|
|
|
NM_016373.4(WWOX):c.560T>A (p.Leu187His)
|
rs2151934150
|
|
|
NM_016373.4(WWOX):c.562C>A (p.Arg188Ser)
|
rs199511589
|
|
|
NM_016373.4(WWOX):c.562C>T (p.Arg188Cys)
|
rs199511589
|
|
|
NM_016373.4(WWOX):c.564T>C (p.Arg188=)
|
|
|
|
NM_016373.4(WWOX):c.568G>C (p.Val190Leu)
|
|
|
|
NM_016373.4(WWOX):c.568G>T (p.Val190Leu)
|
rs769400934
|
|
|
NM_016373.4(WWOX):c.583G>T (p.Glu195Ter)
|
rs1567542020
|
|
|
NM_016373.4(WWOX):c.584A>C (p.Glu195Ala)
|
rs2151934166
|
|
|
NM_016373.4(WWOX):c.587C>T (p.Ala196Val)
|
rs754102799
|
|
|
NM_016373.4(WWOX):c.588A>C (p.Ala196=)
|
|
|
|
NM_016373.4(WWOX):c.588A>G (p.Ala196=)
|
|
|
|
NM_016373.4(WWOX):c.592A>G (p.Lys198Glu)
|
rs1199254958
|
|
|
NM_016373.4(WWOX):c.596C>G (p.Ala199Gly)
|
rs890212192
|
|
|
NM_016373.4(WWOX):c.59C>G (p.Pro20Arg)
|
rs761638116
|
|
|
NM_016373.4(WWOX):c.604G>A (p.Val202Met)
|
|
|
|
NM_016373.4(WWOX):c.605+10C>A
|
rs201186695
|
|
|
NM_016373.4(WWOX):c.605+12A>T
|
|
|
|
NM_016373.4(WWOX):c.605+13G>A
|
|
|
|
NM_016373.4(WWOX):c.605+18G>A
|
|
|
|
NM_016373.4(WWOX):c.605+1_605+2delinsAA
|
rs2151934194
|
|
|
NM_016373.4(WWOX):c.605+2T>C
|
|
|
|
NM_016373.4(WWOX):c.605+6_605+18del
|
rs775621555
|
|
|
NM_016373.4(WWOX):c.605+7G>A
|
rs900076277
|
|
|
NM_016373.4(WWOX):c.605+7G>C
|
|
|
|
NM_016373.4(WWOX):c.605+9T>G
|
|
|
|
NM_016373.4(WWOX):c.605_605+3del
|
rs767732033
|
|
|
NM_016373.4(WWOX):c.606-14A>G
|
|
|
|
NM_016373.4(WWOX):c.606-1G>A
|
rs730882215
|
|
|
NM_016373.4(WWOX):c.606G>C (p.Val202=)
|
rs1232120355
|
|
|
NM_016373.4(WWOX):c.610C>A (p.Leu204Ile)
|
rs866341813
|
|
|
NM_016373.4(WWOX):c.614A>G (p.His205Arg)
|
rs770649734
|
|
|
NM_016373.4(WWOX):c.618G>A (p.Val206=)
|
rs376279847
|
|
|
NM_016373.4(WWOX):c.618G>C (p.Val206=)
|
rs376279847
|
|
|
NM_016373.4(WWOX):c.624G>T (p.Val208=)
|
|
|
|
NM_016373.4(WWOX):c.629A>G (p.Asn210Ser)
|
rs767929766
|
|
|
NM_016373.4(WWOX):c.633A>G (p.Ala211=)
|
rs1597215838
|
|
|
NM_016373.4(WWOX):c.638C>A (p.Thr213Asn)
|
rs753602303
|
|
|
NM_016373.4(WWOX):c.63C>T (p.Gly21=)
|
|
|
|
NM_016373.4(WWOX):c.640T>G (p.Phe214Val)
|
|
|
|
NM_016373.4(WWOX):c.641T>A (p.Phe214Tyr)
|
rs1474238209
|
|
|
NM_016373.4(WWOX):c.645T>C (p.Ala215=)
|
|
|
|
NM_016373.4(WWOX):c.650C>G (p.Pro217Arg)
|
rs777579075
|
|
|
NM_016373.4(WWOX):c.650C>T (p.Pro217Leu)
|
|
|
|
NM_016373.4(WWOX):c.658C>T (p.Leu220Phe)
|
|
|
|
NM_016373.4(WWOX):c.668A>T (p.Asp223Val)
|
rs1392246150
|
|
|
NM_016373.4(WWOX):c.66G>T (p.Trp22Cys)
|
rs1231403909
|
|
|
NM_016373.4(WWOX):c.672C>G (p.Gly224=)
|
|
|
|
NM_016373.4(WWOX):c.681C>T (p.Thr227=)
|
|
|
|
NM_016373.4(WWOX):c.682A>C (p.Thr228Pro)
|
rs1567565338
|
|
|
NM_016373.4(WWOX):c.683C>G (p.Thr228Ser)
|
rs761250135
|
|
|
NM_016373.4(WWOX):c.683C>T (p.Thr228Ile)
|
rs761250135
|
|
|
NM_016373.4(WWOX):c.684C>G (p.Thr228=)
|
|
|
|
NM_016373.4(WWOX):c.688C>G (p.Gln230Glu)
|
rs1057524749
|
|
|
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro)
|
|
|
|
NM_016373.4(WWOX):c.690A>G (p.Gln230=)
|
rs372408512
|
|
|
NM_016373.4(WWOX):c.702G>A (p.Leu234=)
|
rs2151959991
|
|
|
NM_016373.4(WWOX):c.705dup (p.His236fs)
|
rs1597216056
|
|
|
NM_016373.4(WWOX):c.711C>A (p.Phe237Leu)
|
rs769589145
|
|
|
NM_016373.4(WWOX):c.711C>G (p.Phe237Leu)
|
rs769589145
|
|
|
NM_016373.4(WWOX):c.717T>A (p.Leu239=)
|
|
|
|
NM_016373.4(WWOX):c.729C>G (p.Leu243=)
|
rs2083042980
|
|
|
NM_016373.4(WWOX):c.72G>A (p.Glu24=)
|
rs1255601873
|
|
|
NM_016373.4(WWOX):c.736G>A (p.Val246Ile)
|
rs1262275069
|
|
|
NM_016373.4(WWOX):c.744C>T (p.Cys248=)
|
rs1597216164
|
|
|
NM_016373.4(WWOX):c.745C>A (p.Arg249Ser)
|
rs749277249
|
|
|
NM_016373.4(WWOX):c.745C>T (p.Arg249Cys)
|
rs749277249
|
|
|
NM_016373.4(WWOX):c.747C>G (p.Arg249=)
|
rs375934868
|
|
|
NM_016373.4(WWOX):c.757G>T (p.Ala253Ser)
|
rs896783193
|
|
|
NM_016373.4(WWOX):c.758C>G (p.Ala253Gly)
|
rs771068553
|
|
|
NM_016373.4(WWOX):c.759C>A (p.Ala253=)
|
rs1363794629
|
|
|
NM_016373.4(WWOX):c.761G>A (p.Arg254His)
|
|
|
|
NM_016373.4(WWOX):c.764T>C (p.Val255Ala)
|
|
|
|
NM_016373.4(WWOX):c.765C>A (p.Val255=)
|
rs1232507130
|
|
|
NM_016373.4(WWOX):c.765C>G (p.Val255=)
|
|
|
|
NM_016373.4(WWOX):c.766A>T (p.Ile256Phe)
|
rs1023419687
|
|
|
NM_016373.4(WWOX):c.767T>C (p.Ile256Thr)
|
rs775895501
|
|
|
NM_016373.4(WWOX):c.774C>G (p.Val258=)
|
rs1597216285
|
|
|
NM_016373.4(WWOX):c.779C>G (p.Ser260Ter)
|
rs878855021
|
|
|
NM_016373.4(WWOX):c.779C>T (p.Ser260Leu)
|
|
|
|
NM_016373.4(WWOX):c.77CCA[1] (p.Thr27del)
|
rs763124571
|
|
|
NM_016373.4(WWOX):c.780A>G (p.Ser260=)
|
rs2083044569
|
|
|
NM_016373.4(WWOX):c.782A>G (p.Glu261Gly)
|
rs1464495960
|
|
|
NM_016373.4(WWOX):c.789T>C (p.His263=)
|
rs2083044812
|
|
|
NM_016373.4(WWOX):c.790C>G (p.Arg264Gly)
|
rs756762196
|
|
|
NM_016373.4(WWOX):c.791+15C>A
|
|
|
|
NM_016373.4(WWOX):c.791+15C>T
|
|
|
|
NM_016373.4(WWOX):c.791+16A>G
|
rs2083045240
|
|
|
NM_016373.4(WWOX):c.791+1G>T
|
rs1164465811
|
|
|
NM_016373.4(WWOX):c.791+20T>C
|
|
|
|
NM_016373.4(WWOX):c.791+4G>C
|
|
|
|
NM_016373.4(WWOX):c.791G>A (p.Arg264Gln)
|
|
|
|
NM_016373.4(WWOX):c.792-15T>C
|
rs769065057
|
|
|
NM_016373.4(WWOX):c.792-16A>G
|
|
|
|
NM_016373.4(WWOX):c.792-20T>C
|
rs2151385825
|
|
|
NM_016373.4(WWOX):c.792A>G (p.Arg264=)
|
|
|
|
NM_016373.4(WWOX):c.793T>A (p.Phe265Ile)
|
rs2083245410
|
|
|
NM_016373.4(WWOX):c.798A>G (p.Thr266=)
|
rs377727422
|
|
|
NM_016373.4(WWOX):c.7G>A (p.Ala3Thr)
|
rs1336300148
|
|
|
NM_016373.4(WWOX):c.7G>T (p.Ala3Ser)
|
rs1336300148
|
|
|
NM_016373.4(WWOX):c.800A>G (p.Asp267Gly)
|
|
|
|
NM_016373.4(WWOX):c.803T>A (p.Ile268Asn)
|
|
|
|
NM_016373.4(WWOX):c.813C>G (p.Ser271=)
|
|
|
|
NM_016373.4(WWOX):c.813C>T (p.Ser271=)
|
|
|
|
NM_016373.4(WWOX):c.81C>A (p.Thr27=)
|
|
|
|
NM_016373.4(WWOX):c.823C>T (p.Leu275=)
|
rs1272996029
|
|
|
NM_016373.4(WWOX):c.825G>T (p.Leu275=)
|
|
|
|
NM_016373.4(WWOX):c.827A>C (p.Asp276Ala)
|
rs2083246915
|
|
|
NM_016373.4(WWOX):c.82A>G (p.Lys28Glu)
|
|
|
|
NM_016373.4(WWOX):c.833G>A (p.Ser278Asn)
|
|
|
|
NM_016373.4(WWOX):c.838C>G (p.Leu280Val)
|
|
|
|
NM_016373.4(WWOX):c.840C>T (p.Leu280=)
|
|
|
|
NM_016373.4(WWOX):c.842C>T (p.Ser281Phe)
|
rs1567570252
|
|
|
NM_016373.4(WWOX):c.843_844delinsCG (p.Pro282Ala)
|
|
|
|
NM_016373.4(WWOX):c.845C>A (p.Pro282Gln)
|
|
|
|
NM_016373.4(WWOX):c.845C>T (p.Pro282Leu)
|
rs770542796
|
|
|
NM_016373.4(WWOX):c.847A>G (p.Thr283Ala)
|
rs1037290766
|
|
|
NM_016373.4(WWOX):c.847A>T (p.Thr283Ser)
|
|
|
|
NM_016373.4(WWOX):c.854dup (p.Asn285fs)
|
rs1394607357
|
|
|
NM_016373.4(WWOX):c.856G>C (p.Asp286His)
|
rs374658336
|
|
|
NM_016373.4(WWOX):c.856G>T (p.Asp286Tyr)
|
rs374658336
|
|
|
NM_016373.4(WWOX):c.863G>A (p.Trp288Ter)
|
|
|
|
NM_016373.4(WWOX):c.867G>C (p.Ala289=)
|
rs755002954
|
|
|
NM_016373.4(WWOX):c.869T>C (p.Met290Thr)
|
rs1035627222
|
|
|
NM_016373.4(WWOX):c.871C>T (p.Leu291=)
|
rs1230337512
|
|
|
NM_016373.4(WWOX):c.872T>C (p.Leu291Pro)
|
rs119487098
|
|
|
NM_016373.4(WWOX):c.873G>A (p.Leu291=)
|
|
|
|
NM_016373.4(WWOX):c.874G>C (p.Ala292Pro)
|
rs376560613
|
|
|
NM_016373.4(WWOX):c.874G>T (p.Ala292Ser)
|
rs376560613
|
|
|
NM_016373.4(WWOX):c.876T>C (p.Ala292=)
|
rs74030232
|
|
|
NM_016373.4(WWOX):c.876T>G (p.Ala292=)
|
rs74030232
|
|
|
NM_016373.4(WWOX):c.882C>G (p.Asn294Lys)
|
rs2151386030
|
|
|
NM_016373.4(WWOX):c.884G>C (p.Arg295Thr)
|
|
|
|
NM_016373.4(WWOX):c.891G>A (p.Lys297=)
|
|
|
|
NM_016373.4(WWOX):c.892C>G (p.Leu298Val)
|
|
|
|
NM_016373.4(WWOX):c.899A>G (p.Asn300Ser)
|
rs1860301714
|
|
|
NM_016373.4(WWOX):c.8C>T (p.Ala3Val)
|
rs1241157001
|
|
|
NM_016373.4(WWOX):c.903C>G (p.Ile301Met)
|
rs758799029
|
|
|
NM_016373.4(WWOX):c.903C>T (p.Ile301=)
|
|
|
|
NM_016373.4(WWOX):c.904C>T (p.Leu302Phe)
|
rs757597956
|
|
|
NM_016373.4(WWOX):c.909C>T (p.Phe303=)
|
|
|
|
NM_016373.4(WWOX):c.90C>T (p.Gly30=)
|
rs772839022
|
|
|
NM_016373.4(WWOX):c.912C>G (p.Ser304=)
|
|
|
|
NM_016373.4(WWOX):c.915C>A (p.Asn305Lys)
|
rs201818301
|
|
|
NM_016373.4(WWOX):c.915C>T (p.Asn305=)
|
rs201818301
|
|
|
NM_016373.4(WWOX):c.918G>A (p.Glu306=)
|
rs2151386096
|
|
|
NM_016373.4(WWOX):c.918del (p.Glu306fs)
|
rs1057518795
|
|
|
NM_016373.4(WWOX):c.919C>T (p.Leu307=)
|
rs200320711
|
|
|
NM_016373.4(WWOX):c.921G>T (p.Leu307=)
|
|
|
|
NM_016373.4(WWOX):c.923A>G (p.His308Arg)
|
rs2151386107
|
|
|
NM_016373.4(WWOX):c.924C>G (p.His308Gln)
|
rs774296956
|
|
|
NM_016373.4(WWOX):c.924C>T (p.His308=)
|
|
|
|
NM_016373.4(WWOX):c.931C>T (p.Leu311Phe)
|
rs1455737775
|
|
|
NM_016373.4(WWOX):c.933C>A (p.Leu311=)
|
|
|
|
NM_016373.4(WWOX):c.935C>T (p.Ser312Phe)
|
rs79399971
|
|
|
NM_016373.4(WWOX):c.936C>T (p.Ser312=)
|
rs2151386149
|
|
|
NM_016373.4(WWOX):c.938C>G (p.Pro313Arg)
|
|
|
|
NM_016373.4(WWOX):c.941G>C (p.Arg314Pro)
|
rs73572838
|
|
|
NM_016373.4(WWOX):c.942C>G (p.Arg314=)
|
|
|
|
NM_016373.4(WWOX):c.943G>A (p.Gly315Arg)
|
rs768172617
|
|
|
NM_016373.4(WWOX):c.943G>C (p.Gly315Arg)
|
rs768172617
|
|
|
NM_016373.4(WWOX):c.943G>T (p.Gly315Trp)
|
rs768172617
|
|
|
NM_016373.4(WWOX):c.945G>T (p.Gly315=)
|
rs1232491002
|
|
|
NM_016373.4(WWOX):c.94G>A (p.Val32Ile)
|
rs2031635728
|
|
|
NM_016373.4(WWOX):c.954G>C (p.Ser318=)
|
|
|
|
NM_016373.4(WWOX):c.961G>C (p.Val321Leu)
|
rs2081146962
|
|
|
NM_016373.4(WWOX):c.963G>A (p.Val321=)
|
|
|
|
NM_016373.4(WWOX):c.965A>G (p.His322Arg)
|
rs878855022
|
|
|
NM_016373.4(WWOX):c.968C>G (p.Pro323Arg)
|
rs1567570468
|
|
|
NM_016373.4(WWOX):c.969T>C (p.Pro323=)
|
|
|
|
NM_016373.4(WWOX):c.972A>C (p.Gly324=)
|
|
|
|
NM_016373.4(WWOX):c.978G>C (p.Met326Ile)
|
rs748074874
|
|
|
NM_016373.4(WWOX):c.978G>T (p.Met326Ile)
|
rs748074874
|
|
|
NM_016373.4(WWOX):c.980T>G (p.Met327Arg)
|
rs1567570484
|
|
|
NM_016373.4(WWOX):c.990C>T (p.Asn330=)
|
rs117209694
|
|
|
NM_016373.4(WWOX):c.993T>A (p.Ile331=)
|
|
|
|
NM_016373.4(WWOX):c.993T>G (p.Ile331Met)
|
|
|
|
NM_016373.4(WWOX):c.994C>G (p.His332Asp)
|
|
|
|
NM_016373.4(WWOX):c.994C>T (p.His332Tyr)
|
rs923399366
|
|
|
NM_016373.4(WWOX):c.9G>A (p.Ala3=)
|
|
|
|
NM_016464.5(TMEM138):c.105T>C (p.Pro35=)
|
rs1370730016
|
|
|
NM_016464.5(TMEM138):c.128+19T>G
|
|
|
|
NM_016464.5(TMEM138):c.129-10A>G
|
|
|
|
NM_016464.5(TMEM138):c.129-10dup
|
rs2135157730
|
|
|
NM_016464.5(TMEM138):c.129-11dup
|
|
|
|
NM_016464.5(TMEM138):c.129-19C>G
|
rs2135157682
|
|
|
NM_016464.5(TMEM138):c.129-19C>T
|
rs2135157682
|
|
|
NM_016464.5(TMEM138):c.129-3C>T
|
|
|
|
NM_016464.5(TMEM138):c.12C>T (p.Thr4=)
|
rs376500080
|
|
|
NM_016464.5(TMEM138):c.13A>G (p.Ser5Gly)
|
rs1858060748
|
|
|
NM_016464.5(TMEM138):c.166A>G (p.Ile56Val)
|
|
|
|
NM_016464.5(TMEM138):c.176T>G (p.Met59Arg)
|
|
|
|
NM_016464.5(TMEM138):c.195C>T (p.Val65=)
|
rs2135158008
|
|
|
NM_016464.5(TMEM138):c.196T>C (p.Phe66Leu)
|
rs1858140604
|
|
|
NM_016464.5(TMEM138):c.199C>G (p.Gln67Glu)
|
|
|
|
NM_016464.5(TMEM138):c.204T>C (p.Ala68=)
|
rs2135158047
|
|
|
NM_016464.5(TMEM138):c.207C>T (p.Gly69=)
|
|
|
|
NM_016464.5(TMEM138):c.209T>A (p.Leu70Gln)
|
rs2135158062
|
|
|
NM_016464.5(TMEM138):c.217C>T (p.Leu73Phe)
|
rs1858141854
|
|
|
NM_016464.5(TMEM138):c.227A>G (p.His76Arg)
|
rs1411782602
|
|
|
NM_016464.5(TMEM138):c.230A>T (p.Lys77Met)
|
|
|
|
NM_016464.5(TMEM138):c.231G>A (p.Lys77=)
|
rs2135158146
|
|
|
NM_016464.5(TMEM138):c.24C>T (p.Ser8=)
|
|
|
|
NM_016464.5(TMEM138):c.281C>G (p.Ser94Cys)
|
rs2135158354
|
|
|
NM_016464.5(TMEM138):c.287A>G (p.His96Arg)
|
rs387907132
|
|
|
NM_016464.5(TMEM138):c.288T>C (p.His96=)
|
|
|
|
NM_016464.5(TMEM138):c.300+13G>A
|
rs2135158448
|
|
|
NM_016464.5(TMEM138):c.301-12C>T
|
|
|
|
NM_016464.5(TMEM138):c.301-13A>G
|
|
|
|
NM_016464.5(TMEM138):c.301-16C>T
|
|
|
|
NM_016464.5(TMEM138):c.301-18A>G
|
|
|
|
NM_016464.5(TMEM138):c.303C>T (p.Asn101=)
|
rs2135162983
|
|
|
NM_016464.5(TMEM138):c.306_307dup (p.Arg103fs)
|
rs771224190
|
|
|
NM_016464.5(TMEM138):c.306dup (p.Arg103fs)
|
|
|
|
NM_016464.5(TMEM138):c.307C>G (p.Arg103Gly)
|
|
|
|
NM_016464.5(TMEM138):c.307del (p.Arg103fs)
|
|
|
|
NM_016464.5(TMEM138):c.311G>A (p.Trp104Ter)
|
|
|
|
NM_016464.5(TMEM138):c.311G>T (p.Trp104Leu)
|
rs2135163033
|
|
|
NM_016464.5(TMEM138):c.317A>T (p.Asn106Ile)
|
rs932618021
|
|
|
NM_016464.5(TMEM138):c.322A>G (p.Asn108Asp)
|
|
|
|
NM_016464.5(TMEM138):c.359T>A (p.Phe120Tyr)
|
|
|
|
NM_016464.5(TMEM138):c.35C>A (p.Ser12Tyr)
|
rs1350244778
|
|
|
NM_016464.5(TMEM138):c.377-11C>T
|
rs749034092
|
|
|
NM_016464.5(TMEM138):c.377-19T>C
|
|
|
|
NM_016464.5(TMEM138):c.377C>T (p.Ala126Val)
|
rs1045760713
|
|
|
NM_016464.5(TMEM138):c.384G>A (p.Val128=)
|
|
|
|
NM_016464.5(TMEM138):c.389A>G (p.Tyr130Cys)
|
rs387907135
|
|
|
NM_016464.5(TMEM138):c.415G>A (p.Val139Ile)
|
rs141029883
|
|
|
NM_016464.5(TMEM138):c.430_439del (p.Pro144fs)
|
|
|
|
NM_016464.5(TMEM138):c.431C>T (p.Pro144Leu)
|
rs2135165565
|
|
|
NM_016464.5(TMEM138):c.435C>T (p.His145=)
|
|
|
|
NM_016464.5(TMEM138):c.448T>A (p.Ser150Thr)
|
|
|
|
NM_016464.5(TMEM138):c.449C>G (p.Ser150Cys)
|
|
|
|
NM_016464.5(TMEM138):c.451_452del (p.Leu151fs)
|
rs890070939
|
|
|
NM_016464.5(TMEM138):c.454T>A (p.Trp152Arg)
|
|
|
|
NM_016464.5(TMEM138):c.459G>A (p.Leu153=)
|
|
|
|
NM_016464.5(TMEM138):c.45C>T (p.Phe15=)
|
|
|
|
NM_016464.5(TMEM138):c.460C>T (p.Arg154Cys)
|
|
|
|
NM_016464.5(TMEM138):c.481C>T (p.Arg161Ter)
|
rs1000923142
|
|
|
NM_016464.5(TMEM138):c.56C>G (p.Ser19Cys)
|
rs1565076874
|
|
|
NM_016464.5(TMEM138):c.76T>G (p.Ser26Ala)
|
|
|
|
NM_016464.5(TMEM138):c.80T>C (p.Phe27Ser)
|
|
|
|
NM_016464.5(TMEM138):c.83del (p.Phe27_Ser28insTer)
|
rs2135153244
|
|
|
NM_018718.3(CEP41):c.1018C>G (p.Pro340Ala)
|
|
|
|
NM_018718.3(CEP41):c.1022G>A (p.Gly341Asp)
|
rs1554416156
|
|
|
NM_018718.3(CEP41):c.102C>T (p.Asn34=)
|
rs781793746
|
|
|
NM_018718.3(CEP41):c.1033G>A (p.Ala345Thr)
|
rs184146463
|
|
|
NM_018718.3(CEP41):c.1033G>T (p.Ala345Ser)
|
rs184146463
|
|
|
NM_018718.3(CEP41):c.103A>G (p.Ser35Gly)
|
|
|
|
NM_018718.3(CEP41):c.1042C>T (p.Leu348=)
|
|
|
|
NM_018718.3(CEP41):c.1044G>T (p.Leu348=)
|
|
|
|
NM_018718.3(CEP41):c.104G>A (p.Ser35Asn)
|
|
|
|
NM_018718.3(CEP41):c.1052G>A (p.Gly351Asp)
|
rs2117546322
|
|
|
NM_018718.3(CEP41):c.1062C>T (p.Ala354=)
|
rs782552317
|
|
|
NM_018718.3(CEP41):c.1075C>T (p.Pro359Ser)
|
|
|
|
NM_018718.3(CEP41):c.1079G>C (p.Arg360Pro)
|
rs781878740
|
|
|
NM_018718.3(CEP41):c.1080C>T (p.Arg360=)
|
rs782746850
|
|
|
NM_018718.3(CEP41):c.1082C>A (p.Ser361Tyr)
|
|
|
|
NM_018718.3(CEP41):c.1086CAG[3] (p.Ser364dup)
|
rs1796754986
|
|
|
NM_018718.3(CEP41):c.108G>T (p.Met36Ile)
|
|
|
|
NM_018718.3(CEP41):c.1111C>T (p.Pro371Ser)
|
rs782211413
|
|
|
NM_018718.3(CEP41):c.1122_*1del (p.Lys373_Ter374insTer)
|
|
|
|
NM_018718.3(CEP41):c.112A>G (p.Lys38Glu)
|
rs1797355895
|
|
|
NM_018718.3(CEP41):c.114A>G (p.Lys38=)
|
rs1554421037
|
|
|
NM_018718.3(CEP41):c.129C>G (p.Leu43=)
|
|
|
|
NM_018718.3(CEP41):c.145+16G>C
|
|
|
|
NM_018718.3(CEP41):c.145+16G>T
|
rs2117627031
|
|
|
NM_018718.3(CEP41):c.145+7A>G
|
|
|
|
NM_018718.3(CEP41):c.146-13C>T
|
rs782677555
|
|
|
NM_018718.3(CEP41):c.146-9A>G
|
rs372039618
|
|
|
NM_018718.3(CEP41):c.14G>A (p.Arg5Lys)
|
|
|
|
NM_018718.3(CEP41):c.162A>C (p.Lys54Asn)
|
|
|
|
NM_018718.3(CEP41):c.162A>G (p.Lys54=)
|
|
|
|
NM_018718.3(CEP41):c.176A>G (p.Lys59Arg)
|
rs1797203213
|
|
|
NM_018718.3(CEP41):c.180A>G (p.Arg60=)
|
|
|
|
NM_018718.3(CEP41):c.184A>C (p.Lys62Gln)
|
|
|
|
NM_018718.3(CEP41):c.208-5A>T
|
|
|
|
NM_018718.3(CEP41):c.208-6T>C
|
|
|
|
NM_018718.3(CEP41):c.208-7C>G
|
rs782769113
|
|
|
NM_018718.3(CEP41):c.208-7C>T
|
rs782769113
|
|
|
NM_018718.3(CEP41):c.208A>G (p.Ile70Val)
|
|
|
|
NM_018718.3(CEP41):c.226C>G (p.Leu76Val)
|
rs1797171250
|
|
|
NM_018718.3(CEP41):c.230C>G (p.Ser77Cys)
|
rs1797171055
|
|
|
NM_018718.3(CEP41):c.242T>C (p.Leu81Pro)
|
|
|
|
NM_018718.3(CEP41):c.253G>C (p.Ala85Pro)
|
rs946180222
|
|
|
NM_018718.3(CEP41):c.258G>A (p.Glu86=)
|
rs1309424611
|
|
|
NM_018718.3(CEP41):c.266A>G (p.Gln89Arg)
|
|
|
|
NM_018718.3(CEP41):c.277+10del
|
rs782128369
|
|
|
NM_018718.3(CEP41):c.277+17G>A
|
|
|
|
NM_018718.3(CEP41):c.277G>C (p.Asp93His)
|
rs1797169504
|
|
|
NM_018718.3(CEP41):c.278-15A>C
|
rs142452124
|
|
|
NM_018718.3(CEP41):c.278-15A>T
|
rs142452124
|
|
|
NM_018718.3(CEP41):c.278-9A>C
|
|
|
|
NM_018718.3(CEP41):c.281A>G (p.Asn94Ser)
|
|
|
|
NM_018718.3(CEP41):c.287C>G (p.Ser96Cys)
|
rs2117574982
|
|
|
NM_018718.3(CEP41):c.28C>A (p.Pro10Thr)
|
rs149373377
|
|
|
NM_018718.3(CEP41):c.28C>G (p.Pro10Ala)
|
rs149373377
|
|
|
NM_018718.3(CEP41):c.298G>A (p.Asp100Asn)
|
rs150251054
|
|
|
NM_018718.3(CEP41):c.298G>C (p.Asp100His)
|
|
|
|
NM_018718.3(CEP41):c.299A>G (p.Asp100Gly)
|
|
|
|
NM_018718.3(CEP41):c.30T>G (p.Pro10=)
|
|
|
|
NM_018718.3(CEP41):c.320C>T (p.Ala107Val)
|
rs141025803
|
|
|
NM_018718.3(CEP41):c.327C>T (p.Thr109=)
|
|
|
|
NM_018718.3(CEP41):c.33+10A>G
|
|
|
|
NM_018718.3(CEP41):c.33+16C>T
|
|
|
|
NM_018718.3(CEP41):c.33+20C>A
|
|
|
|
NM_018718.3(CEP41):c.33+6G>A
|
rs1798137622
|
|
|
NM_018718.3(CEP41):c.33G>A (p.Glu11=)
|
rs2117739865
|
|
|
NM_018718.3(CEP41):c.34-14del
|
|
|
|
NM_018718.3(CEP41):c.34-17A>G
|
|
|
|
NM_018718.3(CEP41):c.353A>G (p.Gln118Arg)
|
rs782235279
|
|
|
NM_018718.3(CEP41):c.359C>G (p.Pro120Arg)
|
|
|
|
NM_018718.3(CEP41):c.360G>A (p.Pro120=)
|
|
|
|
NM_018718.3(CEP41):c.362G>C (p.Ser121Thr)
|
rs782508627
|
|
|
NM_018718.3(CEP41):c.363C>G (p.Ser121Arg)
|
|
|
|
NM_018718.3(CEP41):c.367G>C (p.Glu123Gln)
|
rs782614895
|
|
|
NM_018718.3(CEP41):c.371A>C (p.Gln124Pro)
|
|
|
|
NM_018718.3(CEP41):c.383A>G (p.Asn128Ser)
|
rs782436531
|
|
|
NM_018718.3(CEP41):c.411A>G (p.Ser137=)
|
rs1796949890
|
|
|
NM_018718.3(CEP41):c.422+5T>C
|
|
|
|
NM_018718.3(CEP41):c.423-2A>C
|
rs781815473
|
|
|
NM_018718.3(CEP41):c.423-2A>G
|
rs781815473
|
|
|
NM_018718.3(CEP41):c.423-4G>T
|
rs1554417330
|
|
|
NM_018718.3(CEP41):c.423-9C>G
|
|
|
|
NM_018718.3(CEP41):c.423T>C (p.Ser141=)
|
|
|
|
NM_018718.3(CEP41):c.428T>A (p.Ile143Asn)
|
rs782614635
|
|
|
NM_018718.3(CEP41):c.42G>T (p.Met14Ile)
|
rs1797714880
|
|
|
NM_018718.3(CEP41):c.437T>C (p.Val146Ala)
|
rs1170058733
|
|
|
NM_018718.3(CEP41):c.438T>G (p.Val146=)
|
|
|
|
NM_018718.3(CEP41):c.468G>A (p.Val156=)
|
rs1796891578
|
|
|
NM_018718.3(CEP41):c.473A>G (p.Lys158Arg)
|
rs1554417299
|
|
|
NM_018718.3(CEP41):c.477del (p.Glu160fs)
|
|
|
|
NM_018718.3(CEP41):c.488C>T (p.Thr163Ile)
|
rs2117565108
|
|
|
NM_018718.3(CEP41):c.499C>T (p.Pro167Ser)
|
rs1796890244
|
|
|
NM_018718.3(CEP41):c.513C>T (p.Cys171=)
|
rs922629262
|
|
|
NM_018718.3(CEP41):c.52C>T (p.Pro18Ser)
|
|
|
|
NM_018718.3(CEP41):c.546T>G (p.Asp182Glu)
|
|
|
|
NM_018718.3(CEP41):c.553C>G (p.Gln185Glu)
|
rs782587361
|
|
|
NM_018718.3(CEP41):c.568G>T (p.Val190Phe)
|
|
|
|
NM_018718.3(CEP41):c.574+7G>C
|
|
|
|
NM_018718.3(CEP41):c.575-14del
|
rs144531086
|
|
|
NM_018718.3(CEP41):c.575-19C>T
|
|
|
|
NM_018718.3(CEP41):c.578A>C (p.Tyr193Ser)
|
rs201818904
|
|
|
NM_018718.3(CEP41):c.581G>A (p.Ser194Asn)
|
|
|
|
NM_018718.3(CEP41):c.595A>G (p.Thr199Ala)
|
rs1796855782
|
|
|
NM_018718.3(CEP41):c.610A>G (p.Met204Val)
|
rs782188831
|
|
|
NM_018718.3(CEP41):c.641A>T (p.Tyr214Phe)
|
rs1796853863
|
|
|
NM_018718.3(CEP41):c.642+5C>T
|
rs2117560304
|
|
|
NM_018718.3(CEP41):c.642T>C (p.Tyr214=)
|
rs1796853773
|
|
|
NM_018718.3(CEP41):c.643-16del
|
rs2117556026
|
|
|
NM_018718.3(CEP41):c.643-7C>G
|
|
|
|
NM_018718.3(CEP41):c.643-9del
|
|
|
|
NM_018718.3(CEP41):c.653A>G (p.His218Arg)
|
rs527896814
|
|
|
NM_018718.3(CEP41):c.659A>G (p.Lys220Arg)
|
rs1472855500
|
|
|
NM_018718.3(CEP41):c.672G>C (p.Leu224=)
|
|
|
|
NM_018718.3(CEP41):c.678C>G (p.Asp226Glu)
|
|
|
|
NM_018718.3(CEP41):c.67T>A (p.Tyr23Asn)
|
|
|
|
NM_018718.3(CEP41):c.697A>G (p.Ser233Gly)
|
rs1796819026
|
|
|
NM_018718.3(CEP41):c.703G>A (p.Ala235Thr)
|
rs2117555473
|
|
|
NM_018718.3(CEP41):c.705G>T (p.Ala235=)
|
rs149052906
|
|
|
NM_018718.3(CEP41):c.717G>T (p.Met239Ile)
|
rs2117555395
|
|
|
NM_018718.3(CEP41):c.720C>T (p.Cys240=)
|
|
|
|
NM_018718.3(CEP41):c.738C>T (p.Asn246=)
|
|
|
|
NM_018718.3(CEP41):c.741C>A (p.Leu247=)
|
|
|
|
NM_018718.3(CEP41):c.757+16C>T
|
|
|
|
NM_018718.3(CEP41):c.757+2T>A
|
|
|
|
NM_018718.3(CEP41):c.757+5G>A
|
rs909436822
|
|
|
NM_018718.3(CEP41):c.758-14dup
|
rs1156468685
|
|
|
NM_018718.3(CEP41):c.769T>G (p.Leu257Val)
|
rs2117552967
|
|
|
NM_018718.3(CEP41):c.773C>T (p.Ala258Val)
|
rs1050700461
|
|
|
NM_018718.3(CEP41):c.798T>G (p.Ile266Met)
|
rs2117552869
|
|
|
NM_018718.3(CEP41):c.7del (p.Leu3fs)
|
rs1798139951
|
|
|
NM_018718.3(CEP41):c.800C>T (p.Thr267Ile)
|
rs2117552856
|
|
|
NM_018718.3(CEP41):c.831C>G (p.Ala277=)
|
|
|
|
NM_018718.3(CEP41):c.831C>T (p.Ala277=)
|
rs782120276
|
|
|
NM_018718.3(CEP41):c.856C>T (p.Arg286Ter)
|
|
|
|
NM_018718.3(CEP41):c.867C>T (p.Pro289=)
|
rs782385841
|
|
|
NM_018718.3(CEP41):c.880del (p.Leu294fs)
|
|
|
|
NM_018718.3(CEP41):c.893A>G (p.Asn298Ser)
|
rs2117552201
|
|
|
NM_018718.3(CEP41):c.928A>G (p.Ile310Val)
|
rs1308536722
|
|
|
NM_018718.3(CEP41):c.947_948dup (p.Glu317fs)
|
rs782610112
|
|
|
NM_018718.3(CEP41):c.953A>C (p.Gln318Pro)
|
rs2117551648
|
|
|
NM_018718.3(CEP41):c.954A>G (p.Gln318=)
|
rs2117551629
|
|
|
NM_018718.3(CEP41):c.955G>T (p.Gly319Trp)
|
|
|
|
NM_018718.3(CEP41):c.965A>G (p.Asp322Gly)
|
|
|
|
NM_018718.3(CEP41):c.97+12T>G
|
|
|
|
NM_018718.3(CEP41):c.973+16C>A
|
rs2117551370
|
|
|
NM_018718.3(CEP41):c.973+404_1077del
|
rs1796755672
|
|
|
NM_018718.3(CEP41):c.973+8del
|
rs2117551461
|
|
|
NM_018718.3(CEP41):c.974-11G>T
|
|
|
|
NM_018718.3(CEP41):c.974-14C>T
|
|
|
|
NM_018718.3(CEP41):c.974-19TCTT[3]
|
|
|
|
NM_018718.3(CEP41):c.977G>A (p.Arg326Gln)
|
rs782387467
|
|
|
NM_018718.3(CEP41):c.977G>T (p.Arg326Leu)
|
rs782387467
|
|
|
NM_018718.3(CEP41):c.97G>A (p.Gly33Ser)
|
|
|
|
NM_018718.3(CEP41):c.98-20A>G
|
|
|
|
NM_018718.3(CEP41):c.98-2A>G
|
|
|
|
NM_018718.3(CEP41):c.98-8C>A
|
rs782606521
|
|
|
NM_018718.3(CEP41):c.98-8C>T
|
|
|
|
NM_018718.3(CEP41):c.997T>C (p.Ser333Pro)
|
rs1796760925
|
|
|
NM_018718.3(CEP41):c.999C>T (p.Ser333=)
|
|
|
|
NM_022464.5(SIL1):c.-11+21922C>T
|
|
|
|
NM_022464.5(SIL1):c.1007T>C (p.Leu336Pro)
|
|
|
|
NM_022464.5(SIL1):c.1008C>G (p.Leu336=)
|
|
|
|
NM_022464.5(SIL1):c.1010A>G (p.Tyr337Cys)
|
|
|
|
NM_022464.5(SIL1):c.1011C>T (p.Tyr337=)
|
|
|
|
NM_022464.5(SIL1):c.1017G>C (p.Leu339=)
|
rs769587333
|
|
|
NM_022464.5(SIL1):c.1023G>A (p.Thr341=)
|
|
|
|
NM_022464.5(SIL1):c.1025_1027delAGA (p.Lys343del)
|
|
|
|
NM_022464.5(SIL1):c.1029+12_1029+17del
|
|
|
|
NM_022464.5(SIL1):c.1029+14C>T
|
|
|
|
NM_022464.5(SIL1):c.1029+15C>T
|
|
|
|
NM_022464.5(SIL1):c.1029G>A (p.Lys343=)
|
|
|
|
NM_022464.5(SIL1):c.1030-10C>T
|
|
|
|
NM_022464.5(SIL1):c.1030-18G>A
|
|
|
|
NM_022464.5(SIL1):c.1030-6T>G
|
|
|
|
NM_022464.5(SIL1):c.1030-9G>T
|
|
|
|
NM_022464.5(SIL1):c.1031T>C (p.Met344Thr)
|
|
|
|
NM_022464.5(SIL1):c.1035del (p.Phe345fs)
|
|
|
|
NM_022464.5(SIL1):c.1036G>A (p.Ala346Thr)
|
rs377150029
|
|
|
NM_022464.5(SIL1):c.1036G>C (p.Ala346Pro)
|
|
|
|
NM_022464.5(SIL1):c.1038C>T (p.Ala346=)
|
|
|
|
NM_022464.5(SIL1):c.105+20A>G
|
|
|
|
NM_022464.5(SIL1):c.1066A>G (p.Met356Val)
|
|
|
|
NM_022464.5(SIL1):c.1071C>T (p.Ser357=)
|
|
|
|
NM_022464.5(SIL1):c.1085A>T (p.Gln362Leu)
|
|
|
|
NM_022464.5(SIL1):c.1093C>T (p.Arg365Cys)
|
|
|
|
NM_022464.5(SIL1):c.1094G>A (p.Arg365His)
|
|
|
|
NM_022464.5(SIL1):c.1095C>T (p.Arg365=)
|
|
|
|
NM_022464.5(SIL1):c.1099G>A (p.Val367Ile)
|
|
|
|
NM_022464.5(SIL1):c.1117del (p.Leu373fs)
|
|
|
|
NM_022464.5(SIL1):c.1120T>C (p.Trp374Arg)
|
rs1021273983
|
|
|
NM_022464.5(SIL1):c.1138G>A (p.Glu380Lys)
|
|
|
|
NM_022464.5(SIL1):c.1145C>T (p.Thr382Met)
|
|
|
|
NM_022464.5(SIL1):c.1146G>A (p.Thr382=)
|
|
|
|
NM_022464.5(SIL1):c.1156C>T (p.Leu386=)
|
|
|
|
NM_022464.5(SIL1):c.115G>T (p.Ala39Ser)
|
|
|
|
NM_022464.5(SIL1):c.1160C>T (p.Ala387Val)
|
|
|
|
NM_022464.5(SIL1):c.1168G>A (p.Glu390Lys)
|
|
|
|
NM_022464.5(SIL1):c.1180C>T (p.Arg394Cys)
|
|
|
|
NM_022464.5(SIL1):c.1218C>A (p.Thr406=)
|
|
|
|
NM_022464.5(SIL1):c.1218C>T (p.Thr406=)
|
|
|
|
NM_022464.5(SIL1):c.1231C>G (p.Arg411Gly)
|
|
|
|
NM_022464.5(SIL1):c.1231C>T (p.Arg411Cys)
|
|
|
|
NM_022464.5(SIL1):c.1237C>T (p.Arg413Cys)
|
|
|
|
NM_022464.5(SIL1):c.1238G>A (p.Arg413His)
|
|
|
|
NM_022464.5(SIL1):c.1238G>T (p.Arg413Leu)
|
|
|
|
NM_022464.5(SIL1):c.1247C>A (p.Pro416His)
|
|
|
|
NM_022464.5(SIL1):c.1255G>A (p.Gly419Ser)
|
rs398124389
|
|
|
NM_022464.5(SIL1):c.125A>C (p.Asn42Thr)
|
|
|
|
NM_022464.5(SIL1):c.1263A>G (p.Thr421=)
|
rs1157233880
|
|
|
NM_022464.5(SIL1):c.1286A>T (p.Tyr429Phe)
|
|
|
|
NM_022464.5(SIL1):c.1316A>G (p.Asp439Gly)
|
|
|
|
NM_022464.5(SIL1):c.1317T>C (p.Asp439=)
|
|
|
|
NM_022464.5(SIL1):c.132G>A (p.Glu44=)
|
|
|
|
NM_022464.5(SIL1):c.1331G>T (p.Gly444Val)
|
|
|
|
NM_022464.5(SIL1):c.135G>A (p.Lys45=)
|
|
|
|
NM_022464.5(SIL1):c.1368G>A (p.Leu456=)
|
|
|
|
NM_022464.5(SIL1):c.1380G>C (p.Leu460=)
|
|
|
|
NM_022464.5(SIL1):c.152_153inv (p.Thr51Met)
|
|
|
|
NM_022464.5(SIL1):c.166A>G (p.Thr56Ala)
|
|
|
|
NM_022464.5(SIL1):c.175G>A (p.Glu59Lys)
|
|
|
|
NM_022464.5(SIL1):c.185T>A (p.Leu62Gln)
|
|
|
|
NM_022464.5(SIL1):c.191C>T (p.Ala64Val)
|
|
|
|
NM_022464.5(SIL1):c.195_217del (p.Glu65fs)
|
|
|
|
NM_022464.5(SIL1):c.196G>A (p.Val66Ile)
|
|
|
|
NM_022464.5(SIL1):c.199C>T (p.Leu67=)
|
|
|
|
NM_022464.5(SIL1):c.1A>G (p.Met1Val)
|
rs573588795
|
|
|
NM_022464.5(SIL1):c.205G>A (p.Val69Met)
|
|
|
|
NM_022464.5(SIL1):c.211C>T (p.His71Tyr)
|
|
|
|
NM_022464.5(SIL1):c.212dup (p.His71fs)
|
|
|
|
NM_022464.5(SIL1):c.215C>T (p.Pro72Leu)
|
|
|
|
NM_022464.5(SIL1):c.216G>A (p.Pro72=)
|
|
|
|
NM_022464.5(SIL1):c.219G>A (p.Thr73=)
|
|
|
|
NM_022464.5(SIL1):c.232G>T (p.Ala78Ser)
|
|
|
|
NM_022464.5(SIL1):c.238C>A (p.Gln80Lys)
|
|
|
|
NM_022464.5(SIL1):c.244+11del
|
|
|
|
NM_022464.5(SIL1):c.244+17T>C
|
|
|
|
NM_022464.5(SIL1):c.244+8G>A
|
|
|
|
NM_022464.5(SIL1):c.245-15C>A
|
|
|
|
NM_022464.5(SIL1):c.255C>T (p.Val85=)
|
|
|
|
NM_022464.5(SIL1):c.261A>G (p.Ala87=)
|
|
|
|
NM_022464.5(SIL1):c.267C>A (p.Ser89=)
|
|
|
|
NM_022464.5(SIL1):c.271G>A (p.Val91Ile)
|
|
|
|
NM_022464.5(SIL1):c.275G>A (p.Arg92Gln)
|
|
|
|
NM_022464.5(SIL1):c.276G>A (p.Arg92=)
|
|
|
|
NM_022464.5(SIL1):c.31A>G (p.Met11Val)
|
|
|
|
NM_022464.5(SIL1):c.331C>T (p.Arg111Ter)
|
|
|
|
NM_022464.5(SIL1):c.348C>G (p.Gly116=)
|
|
|
|
NM_022464.5(SIL1):c.353+12A>G
|
|
|
|
NM_022464.5(SIL1):c.353+19G>A
|
|
|
|
NM_022464.5(SIL1):c.353+1G>T
|
|
|
|
NM_022464.5(SIL1):c.354-3C>A
|
|
|
|
NM_022464.5(SIL1):c.355C>T (p.Leu119=)
|
|
|
|
NM_022464.5(SIL1):c.388G>A (p.Asp130Asn)
|
|
|
|
NM_022464.5(SIL1):c.430A>G (p.Met144Val)
|
|
|
|
NM_022464.5(SIL1):c.435G>C (p.Glu145Asp)
|
|
|
|
NM_022464.5(SIL1):c.453+14T>C
|
|
|
|
NM_022464.5(SIL1):c.454-10C>G
|
|
|
|
NM_022464.5(SIL1):c.454-8C>T
|
|
|
|
NM_022464.5(SIL1):c.458G>C (p.Arg153Thr)
|
|
|
|
NM_022464.5(SIL1):c.46A>C (p.Met16Leu)
|
|
|
|
NM_022464.5(SIL1):c.471A>T (p.Val157=)
|
|
|
|
NM_022464.5(SIL1):c.477G>C (p.Arg159=)
|
|
|
|
NM_022464.5(SIL1):c.487C>A (p.Pro163Thr)
|
|
|
|
NM_022464.5(SIL1):c.506_509dup (p.Asp170fs)
|
|
|
|
NM_022464.5(SIL1):c.516T>C (p.Asp172=)
|
|
|
|
NM_022464.5(SIL1):c.554T>C (p.Met185Thr)
|
|
|
|
NM_022464.5(SIL1):c.559C>T (p.Arg187Trp)
|
|
|
|
NM_022464.5(SIL1):c.570C>G (p.Asn190Lys)
|
|
|
|
NM_022464.5(SIL1):c.585C>T (p.Ser195=)
|
|
|
|
NM_022464.5(SIL1):c.599A>C (p.Glu200Ala)
|
|
|
|
NM_022464.5(SIL1):c.59T>C (p.Leu20Pro)
|
|
|
|
NM_022464.5(SIL1):c.614C>T (p.Ala205Val)
|
|
|
|
NM_022464.5(SIL1):c.615G>A (p.Ala205=)
|
|
|
|
NM_022464.5(SIL1):c.618C>T (p.Leu206=)
|
|
|
|
NM_022464.5(SIL1):c.624T>A (p.Asp208Glu)
|
|
|
|
NM_022464.5(SIL1):c.63G>A (p.Leu21=)
|
|
|
|
NM_022464.5(SIL1):c.643_645+21del
|
|
|
|
NM_022464.5(SIL1):c.644A>G (p.Gln215Arg)
|
|
|
|
NM_022464.5(SIL1):c.645+15C>T
|
|
|
|
NM_022464.5(SIL1):c.645+16G>A
|
|
|
|
NM_022464.5(SIL1):c.645+16G>T
|
|
|
|
NM_022464.5(SIL1):c.645+2T>C
|
|
|
|
NM_022464.5(SIL1):c.666G>T (p.Leu222=)
|
|
|
|
NM_022464.5(SIL1):c.670T>A (p.Ser224Thr)
|
|
|
|
NM_022464.5(SIL1):c.685dup (p.Gln229fs)
|
|
|
|
NM_022464.5(SIL1):c.694A>G (p.Ile232Val)
|
|
|
|
NM_022464.5(SIL1):c.698A>G (p.Asn233Ser)
|
|
|
|
NM_022464.5(SIL1):c.714A>G (p.Thr238=)
|
rs1581036406
|
|
|
NM_022464.5(SIL1):c.729G>A (p.Lys243=)
|
|
|
|
NM_022464.5(SIL1):c.72C>T (p.Ala24=)
|
|
|
|
NM_022464.5(SIL1):c.753C>T (p.Gly251=)
|
|
|
|
NM_022464.5(SIL1):c.767+18C>T
|
|
|
|
NM_022464.5(SIL1):c.767+19G>A
|
|
|
|
NM_022464.5(SIL1):c.768-15G>T
|
|
|
|
NM_022464.5(SIL1):c.773C>T (p.Pro258Leu)
|
|
|
|
NM_022464.5(SIL1):c.810G>A (p.Leu270=)
|
rs1244661386
|
|
|
NM_022464.5(SIL1):c.815A>G (p.Lys272Arg)
|
|
|
|
NM_022464.5(SIL1):c.819G>A (p.Leu273=)
|
rs778802859
|
|
|
NM_022464.5(SIL1):c.829C>T (p.Leu277=)
|
|
|
|
NM_022464.5(SIL1):c.836C>T (p.Thr279Met)
|
rs535287958
|
|
|
NM_022464.5(SIL1):c.837G>A (p.Thr279=)
|
|
|
|
NM_022464.5(SIL1):c.845C>T (p.Pro282Leu)
|
|
|
|
NM_022464.5(SIL1):c.846G>A (p.Pro282=)
|
|
|
|
NM_022464.5(SIL1):c.846G>C (p.Pro282=)
|
|
|
|
NM_022464.5(SIL1):c.864+11A>C
|
|
|
|
NM_022464.5(SIL1):c.864+14C>A
|
|
|
|
NM_022464.5(SIL1):c.864+20C>G
|
|
|
|
NM_022464.5(SIL1):c.865-14G>T
|
|
|
|
NM_022464.5(SIL1):c.88del (p.Leu30fs)
|
|
|
|
NM_022464.5(SIL1):c.907G>A (p.Ala303Thr)
|
|
|
|
NM_022464.5(SIL1):c.913C>T (p.Arg305Trp)
|
|
|
|
NM_022464.5(SIL1):c.914G>A (p.Arg305Gln)
|
|
|
|
NM_022464.5(SIL1):c.91A>G (p.Ser31Gly)
|
|
|
|
NM_022464.5(SIL1):c.921C>T (p.Phe307=)
|
|
|
|
NM_022464.5(SIL1):c.931G>A (p.Gly311Arg)
|
|
|
|
NM_022464.5(SIL1):c.936del (p.Leu313fs)
|
|
|
|
NM_022464.5(SIL1):c.938T>C (p.Leu313Pro)
|
|
|
|
NM_022464.5(SIL1):c.945C>A (p.Val315=)
|
|
|
|
NM_022464.5(SIL1):c.947dup (p.Arg317fs)
|
|
|
|
NM_022464.5(SIL1):c.975G>A (p.Thr325=)
|
rs1187845475
|
|
|
NM_022464.5(SIL1):c.985G>A (p.Ala329Thr)
|
|
|
|
NM_022464.5(SIL1):c.986C>G (p.Ala329Gly)
|
|
|
|
NM_022464.5(SIL1):c.988G>A (p.Val330Met)
|
|
|
|
NM_022464.5(SIL1):c.9C>G (p.Pro3=)
|
|
|
|
NM_024790.6(CSPP1):c.-14_1del (p.Met1del)
|
|
|
|
NM_033071.3(SYNE1):c.17995_17997delGAG
|
|
|
|
NM_033071.3(SYNE1):c.21832-2dup
|
rs35128811
|
|
|
NM_182961.3(SYNE1):c.23146-7dup
|
rs770820426
|
|
|
NM_182961.4(SYNE1):c.10020A>G (p.Ile3340Met)
|
rs756088149
|
|
|
NM_182961.4(SYNE1):c.10051A>G (p.Thr3351Ala)
|
rs2097039682
|
|
|
NM_182961.4(SYNE1):c.10051A>T (p.Thr3351Ser)
|
rs2097039682
|
|
|
NM_182961.4(SYNE1):c.10053T>C (p.Thr3351=)
|
|
|
|
NM_182961.4(SYNE1):c.10071C>G (p.Pro3357=)
|
|
|
|
NM_182961.4(SYNE1):c.10078C>G (p.Gln3360Glu)
|
|
|
|
NM_182961.4(SYNE1):c.10092G>A (p.Gln3364=)
|
rs2154076978
|
|
|
NM_182961.4(SYNE1):c.10112C>T (p.Ala3371Val)
|
rs748579024
|
|
|
NM_182961.4(SYNE1):c.10132A>C (p.Ile3378Leu)
|
rs758060339
|
|
|
NM_182961.4(SYNE1):c.10133T>C (p.Ile3378Thr)
|
|
|
|
NM_182961.4(SYNE1):c.10135C>T (p.Arg3379Cys)
|
|
|
|
NM_182961.4(SYNE1):c.10145+1G>A
|
rs1563391747
|
|
|
NM_182961.4(SYNE1):c.10181A>T (p.Tyr3394Phe)
|
rs754599705
|
|
|
NM_182961.4(SYNE1):c.10182T>C (p.Tyr3394=)
|
rs2154069329
|
|
|
NM_182961.4(SYNE1):c.10190_10191delinsCA (p.Gly3397Ala)
|
rs2154069302
|
|
|
NM_182961.4(SYNE1):c.10195C>A (p.Arg3399=)
|
|
|
|
NM_182961.4(SYNE1):c.1020G>A (p.Val340=)
|
|
|
|
NM_182961.4(SYNE1):c.10212G>T (p.Trp3404Cys)
|
rs1179568983
|
|
|
NM_182961.4(SYNE1):c.10217A>T (p.Asp3406Val)
|
rs546645393
|
|
|
NM_182961.4(SYNE1):c.10221T>C (p.Ser3407=)
|
|
|
|
NM_182961.4(SYNE1):c.10223T>C (p.Met3408Thr)
|
rs1212823311
|
|
|
NM_182961.4(SYNE1):c.10259C>A (p.Ala3420Glu)
|
rs748911036
|
|
|
NM_182961.4(SYNE1):c.10260G>A (p.Ala3420=)
|
rs145287138
|
|
|
NM_182961.4(SYNE1):c.10264C>T (p.Leu3422=)
|
|
|
|
NM_182961.4(SYNE1):c.10269G>C (p.Arg3423=)
|
|
|
|
NM_182961.4(SYNE1):c.10277C>T (p.Thr3426Ile)
|
rs2096943501
|
|
|
NM_182961.4(SYNE1):c.10280C>G (p.Thr3427Arg)
|
|
|
|
NM_182961.4(SYNE1):c.10283T>C (p.Met3428Thr)
|
|
|
|
NM_182961.4(SYNE1):c.10287C>T (p.Leu3429=)
|
|
|
|
NM_182961.4(SYNE1):c.10288G>A (p.Gly3430Arg)
|
rs1047722501
|
|
|
NM_182961.4(SYNE1):c.10296C>A (p.Ala3432=)
|
rs2096943229
|
|
|
NM_182961.4(SYNE1):c.10300-13A>T
|
|
|
|
NM_182961.4(SYNE1):c.10300-5T>C
|
rs1295479380
|
|
|
NM_182961.4(SYNE1):c.10313A>T (p.Glu3438Val)
|
|
|
|
NM_182961.4(SYNE1):c.10332C>T (p.Ser3444=)
|
|
|
|
NM_182961.4(SYNE1):c.10335G>A (p.Leu3445=)
|
|
|
|
NM_182961.4(SYNE1):c.10347C>G (p.Ile3449Met)
|
rs201204269
|
|
|
NM_182961.4(SYNE1):c.10347C>T (p.Ile3449=)
|
|
|
|
NM_182961.4(SYNE1):c.1034A>C (p.Gln345Pro)
|
rs200003096
|
|
|
NM_182961.4(SYNE1):c.10356A>G (p.Lys3452=)
|
rs1318434658
|
|
|
NM_182961.4(SYNE1):c.10379A>G (p.Tyr3460Cys)
|
|
|
|
NM_182961.4(SYNE1):c.10383C>T (p.Val3461=)
|
|
|
|
NM_182961.4(SYNE1):c.10414C>T (p.Arg3472Ter)
|
rs2096893099
|
|
|
NM_182961.4(SYNE1):c.10430A>G (p.Gln3477Arg)
|
|
|
|
NM_182961.4(SYNE1):c.10450G>A (p.Val3484Ile)
|
|
|
|
NM_182961.4(SYNE1):c.10469T>C (p.Leu3490Pro)
|
|
|
|
NM_182961.4(SYNE1):c.1047+4T>G
|
rs9397106
|
|
|
NM_182961.4(SYNE1):c.1048-4_1048-3del
|
rs755509246
|
|
|
NM_182961.4(SYNE1):c.1048-7del
|
rs2154296673
|
|
|
NM_182961.4(SYNE1):c.10488G>A (p.Glu3496=)
|
|
|
|
NM_182961.4(SYNE1):c.10492C>T (p.Gln3498Ter)
|
|
|
|
NM_182961.4(SYNE1):c.10539A>C (p.Glu3513Asp)
|
|
|
|
NM_182961.4(SYNE1):c.10543C>T (p.Leu3515Phe)
|
rs1447737732
|
|
|
NM_182961.4(SYNE1):c.10545C>T (p.Leu3515=)
|
rs527448479
|
|
|
NM_182961.4(SYNE1):c.10557A>G (p.Ser3519=)
|
|
|
|
NM_182961.4(SYNE1):c.10574C>T (p.Ala3525Val)
|
|
|
|
NM_182961.4(SYNE1):c.1058A>C (p.His353Pro)
|
|
|
|
NM_182961.4(SYNE1):c.10593A>G (p.Thr3531=)
|
|
|
|
NM_182961.4(SYNE1):c.10597C>A (p.Arg3533Ser)
|
rs776816480
|
|
|
NM_182961.4(SYNE1):c.10608+11C>T
|
|
|
|
NM_182961.4(SYNE1):c.10608+12T>A
|
|
|
|
NM_182961.4(SYNE1):c.10608+1G>C
|
rs1590998146
|
|
|
NM_182961.4(SYNE1):c.10633G>A (p.Gly3545Arg)
|
|
|
|
NM_182961.4(SYNE1):c.10635G>A (p.Gly3545=)
|
|
|
|
NM_182961.4(SYNE1):c.10649A>G (p.Asn3550Ser)
|
|
|
|
NM_182961.4(SYNE1):c.10665C>T (p.Thr3555=)
|
rs2154051145
|
|
|
NM_182961.4(SYNE1):c.1066G>A (p.Val356Ile)
|
rs1156294695
|
|
|
NM_182961.4(SYNE1):c.10699G>A (p.Ala3567Thr)
|
|
|
|
NM_182961.4(SYNE1):c.10700C>T (p.Ala3567Val)
|
rs2154051091
|
|
|
NM_182961.4(SYNE1):c.1072T>C (p.Tyr358His)
|
rs779366372
|
|
|
NM_182961.4(SYNE1):c.10735T>C (p.Trp3579Arg)
|
|
|
|
NM_182961.4(SYNE1):c.10749G>C (p.Gln3583His)
|
|
|
|
NM_182961.4(SYNE1):c.1075G>A (p.Glu359Lys)
|
|
|
|
NM_182961.4(SYNE1):c.10766C>G (p.Thr3589Ser)
|
|
|
|
NM_182961.4(SYNE1):c.10786G>T (p.Val3596Leu)
|
rs143034104
|
|
|
NM_182961.4(SYNE1):c.10788G>T (p.Val3596=)
|
|
|
|
NM_182961.4(SYNE1):c.1078A>G (p.Met360Val)
|
rs2098931426
|
|
|
NM_182961.4(SYNE1):c.10791G>A (p.Val3597=)
|
|
|
|
NM_182961.4(SYNE1):c.10807A>G (p.Met3603Val)
|
|
|
|
NM_182961.4(SYNE1):c.10818G>C (p.Lys3606Asn)
|
|
|
|
NM_182961.4(SYNE1):c.10847C>T (p.Thr3616Ile)
|
|
|
|
NM_182961.4(SYNE1):c.10855G>A (p.Glu3619Lys)
|
rs1214109688
|
|
|
NM_182961.4(SYNE1):c.10862T>C (p.Val3621Ala)
|
|
|
|
NM_182961.4(SYNE1):c.10863_10866del (p.Ser3622fs)
|
|
|
|
NM_182961.4(SYNE1):c.1086G>A (p.Arg362=)
|
|
|
|
NM_182961.4(SYNE1):c.10870A>G (p.Arg3624Gly)
|
rs766081119
|
|
|
NM_182961.4(SYNE1):c.10879C>A (p.Arg3627Ser)
|
rs149712464
|
|
|
NM_182961.4(SYNE1):c.10880G>A (p.Arg3627His)
|
rs755667715
|
|
|
NM_182961.4(SYNE1):c.10927-14C>T
|
rs2154047106
|
|
|
NM_182961.4(SYNE1):c.10927-19C>T
|
rs765562019
|
|
|
NM_182961.4(SYNE1):c.10956A>G (p.Arg3652=)
|
|
|
|
NM_182961.4(SYNE1):c.10969G>C (p.Glu3657Gln)
|
|
|
|
NM_182961.4(SYNE1):c.10981A>G (p.Arg3661Gly)
|
rs767172575
|
|
|
NM_182961.4(SYNE1):c.11007C>A (p.Ser3669Arg)
|
|
|
|
NM_182961.4(SYNE1):c.11010C>A (p.His3670Gln)
|
rs143673038
|
|
|
NM_182961.4(SYNE1):c.11010C>T (p.His3670=)
|
rs143673038
|
|
|
NM_182961.4(SYNE1):c.11011G>A (p.Val3671Met)
|
rs567753957
|
|
|
NM_182961.4(SYNE1):c.11030G>A (p.Cys3677Tyr)
|
rs148028681
|
|
|
NM_182961.4(SYNE1):c.11059C>A (p.Gln3687Lys)
|
|
|
|
NM_182961.4(SYNE1):c.11067G>T (p.Leu3689=)
|
rs2154046463
|
|
|
NM_182961.4(SYNE1):c.11076A>C (p.Gln3692His)
|
|
|
|
NM_182961.4(SYNE1):c.11082+14del
|
rs2154046352
|
|
|
NM_182961.4(SYNE1):c.11082+8G>A
|
|
|
|
NM_182961.4(SYNE1):c.11089A>G (p.Ile3697Val)
|
|
|
|
NM_182961.4(SYNE1):c.11091A>C (p.Ile3697=)
|
|
|
|
NM_182961.4(SYNE1):c.11115G>C (p.Gln3705His)
|
rs2154045109
|
|
|
NM_182961.4(SYNE1):c.11166C>T (p.Gly3722=)
|
|
|
|
NM_182961.4(SYNE1):c.11172T>C (p.Thr3724=)
|
|
|
|
NM_182961.4(SYNE1):c.11208C>A (p.Asp3736Glu)
|
|
|
|
NM_182961.4(SYNE1):c.11248T>C (p.Leu3750=)
|
|
|
|
NM_182961.4(SYNE1):c.11253+6C>A
|
rs2096773869
|
|
|
NM_182961.4(SYNE1):c.11253+8C>T
|
|
|
|
NM_182961.4(SYNE1):c.11284A>C (p.Ser3762Arg)
|
rs953580081
|
|
|
NM_182961.4(SYNE1):c.11344G>A (p.Glu3782Lys)
|
|
|
|
NM_182961.4(SYNE1):c.1135T>C (p.Ser379Pro)
|
|
|
|
NM_182961.4(SYNE1):c.11391G>A (p.Leu3797=)
|
rs2154039780
|
|
|
NM_182961.4(SYNE1):c.11398C>T (p.Leu3800=)
|
|
|
|
NM_182961.4(SYNE1):c.11408C>T (p.Thr3803Ile)
|
rs2096753111
|
|
|
NM_182961.4(SYNE1):c.11414G>A (p.Arg3805Gln)
|
|
|
|
NM_182961.4(SYNE1):c.11420A>G (p.Glu3807Gly)
|
rs2096752876
|
|
|
NM_182961.4(SYNE1):c.11425A>G (p.Met3809Val)
|
|
|
|
NM_182961.4(SYNE1):c.11439A>G (p.Lys3813=)
|
|
|
|
NM_182961.4(SYNE1):c.11463C>A (p.Phe3821Leu)
|
rs2154039505
|
|
|
NM_182961.4(SYNE1):c.11464T>A (p.Ser3822Thr)
|
|
|
|
NM_182961.4(SYNE1):c.11475C>T (p.Cys3825=)
|
rs146919170
|
|
|
NM_182961.4(SYNE1):c.11486C>T (p.Thr3829Ile)
|
rs770523249
|
|
|
NM_182961.4(SYNE1):c.11494A>T (p.Ile3832Leu)
|
|
|
|
NM_182961.4(SYNE1):c.11560G>C (p.Ala3854Pro)
|
rs776601282
|
|
|
NM_182961.4(SYNE1):c.11569T>C (p.Ser3857Pro)
|
|
|
|
NM_182961.4(SYNE1):c.11581-15dup
|
rs5880967
|
|
|
NM_182961.4(SYNE1):c.11581-16_11581-15dup
|
rs5880967
|
|
|
NM_182961.4(SYNE1):c.11581-20T>G
|
|
|
|
NM_182961.4(SYNE1):c.11616A>G (p.Ser3872=)
|
|
|
|
NM_182961.4(SYNE1):c.11652G>C (p.Leu3884Phe)
|
|
|
|
NM_182961.4(SYNE1):c.11656C>A (p.Leu3886Met)
|
rs755039909
|
|
|
NM_182961.4(SYNE1):c.11657T>C (p.Leu3886Pro)
|
|
|
|
NM_182961.4(SYNE1):c.11662C>A (p.Gln3888Lys)
|
rs1590820792
|
|
|
NM_182961.4(SYNE1):c.11664G>A (p.Gln3888=)
|
rs1563267356
|
|
|
NM_182961.4(SYNE1):c.11666A>G (p.Asp3889Gly)
|
|
|
|
NM_182961.4(SYNE1):c.11667C>T (p.Asp3889=)
|
|
|
|
NM_182961.4(SYNE1):c.11669T>A (p.Val3890Asp)
|
rs750372071
|
|
|
NM_182961.4(SYNE1):c.11685A>G (p.Lys3895=)
|
rs774133216
|
|
|
NM_182961.4(SYNE1):c.11690A>G (p.Asp3897Gly)
|
rs935958519
|
|
|
NM_182961.4(SYNE1):c.11691T>C (p.Asp3897=)
|
rs794727886
|
|
|
NM_182961.4(SYNE1):c.1171A>G (p.Arg391Gly)
|
|
|
|
NM_182961.4(SYNE1):c.1171A>T (p.Arg391Ter)
|
|
|
|
NM_182961.4(SYNE1):c.1173A>C (p.Arg391Ser)
|
|
|
|
NM_182961.4(SYNE1):c.1176G>C (p.Val392=)
|
|
|
|
NM_182961.4(SYNE1):c.1178C>T (p.Thr393Ile)
|
|
|
|
NM_182961.4(SYNE1):c.117T>C (p.Ser39=)
|
|
|
|
NM_182961.4(SYNE1):c.1185+8C>T
|
|
|
|
NM_182961.4(SYNE1):c.1186-14T>A
|
rs1388629828
|
|
|
NM_182961.4(SYNE1):c.1186-15C>A
|
|
|
|
NM_182961.4(SYNE1):c.1188C>G (p.Leu396=)
|
rs1252508397
|
|
|
NM_182961.4(SYNE1):c.11902-14T>C
|
rs1192832505
|
|
|
NM_182961.4(SYNE1):c.11902-21_11902-19dup
|
|
|
|
NM_182961.4(SYNE1):c.11902-3C>T
|
|
|
|
NM_182961.4(SYNE1):c.11913A>G (p.Glu3971=)
|
|
|
|
NM_182961.4(SYNE1):c.11920G>T (p.Ala3974Ser)
|
rs2154025706
|
|
|
NM_182961.4(SYNE1):c.11935C>A (p.Arg3979Ser)
|
rs755560676
|
|
|
NM_182961.4(SYNE1):c.11936G>T (p.Arg3979Leu)
|
|
|
|
NM_182961.4(SYNE1):c.11992C>T (p.Leu3998=)
|
|
|
|
NM_182961.4(SYNE1):c.11999C>T (p.Ala4000Val)
|
|
|
|
NM_182961.4(SYNE1):c.12015C>T (p.Asn4005=)
|
rs1370153399
|
|
|
NM_182961.4(SYNE1):c.12018G>T (p.Val4006=)
|
|
|
|
NM_182961.4(SYNE1):c.12035G>T (p.Gly4012Val)
|
rs745342797
|
|
|
NM_182961.4(SYNE1):c.12056C>A (p.Ala4019Glu)
|
rs756840607
|
|
|
NM_182961.4(SYNE1):c.12059T>A (p.Ile4020Asn)
|
rs2154025477
|
|
|
NM_182961.4(SYNE1):c.12060C>A (p.Ile4020=)
|
|
|
|
NM_182961.4(SYNE1):c.12060C>G (p.Ile4020Met)
|
rs2096650506
|
|
|
NM_182961.4(SYNE1):c.12068C>G (p.Thr4023Arg)
|
|
|
|
NM_182961.4(SYNE1):c.12071C>T (p.Ala4024Val)
|
rs2154025456
|
|
|
NM_182961.4(SYNE1):c.12079-15A>T
|
|
|
|
NM_182961.4(SYNE1):c.12079-2A>T
|
rs2154019221
|
|
|
NM_182961.4(SYNE1):c.1208T>C (p.Leu403Pro)
|
|
|
|
NM_182961.4(SYNE1):c.12097C>T (p.His4033Tyr)
|
|
|
|
NM_182961.4(SYNE1):c.12128A>T (p.Asp4043Val)
|
rs761744256
|
|
|
NM_182961.4(SYNE1):c.12168G>A (p.Gln4056=)
|
|
|
|
NM_182961.4(SYNE1):c.12185G>A (p.Ser4062Asn)
|
|
|
|
NM_182961.4(SYNE1):c.12194C>G (p.Pro4065Arg)
|
|
|
|
NM_182961.4(SYNE1):c.1219_1220del (p.Leu407fs)
|
rs1564367104
|
|
|
NM_182961.4(SYNE1):c.12203G>A (p.Ser4068Asn)
|
rs1366322267
|
|
|
NM_182961.4(SYNE1):c.12213A>G (p.Glu4071=)
|
|
|
|
NM_182961.4(SYNE1):c.12215C>T (p.Ala4072Val)
|
|
|
|
NM_182961.4(SYNE1):c.12219T>C (p.Ile4073=)
|
rs2154018582
|
|
|
NM_182961.4(SYNE1):c.12225+16A>C
|
|
|
|
NM_182961.4(SYNE1):c.12234C>T (p.His4078=)
|
|
|
|
NM_182961.4(SYNE1):c.12256G>A (p.Ala4086Thr)
|
|
|
|
NM_182961.4(SYNE1):c.12270A>G (p.Leu4090=)
|
rs1436148487
|
|
|
NM_182961.4(SYNE1):c.12285C>G (p.Ser4095=)
|
|
|
|
NM_182961.4(SYNE1):c.12287T>A (p.Met4096Lys)
|
rs771323185
|
|
|
NM_182961.4(SYNE1):c.12287T>C (p.Met4096Thr)
|
rs771323185
|
|
|
NM_182961.4(SYNE1):c.12291T>G (p.Cys4097Trp)
|
rs1554492224
|
|
|
NM_182961.4(SYNE1):c.12309G>A (p.Ser4103=)
|
|
|
|
NM_182961.4(SYNE1):c.12349A>G (p.Thr4117Ala)
|
|
|
|
NM_182961.4(SYNE1):c.12351+19A>G
|
|
|
|
NM_182961.4(SYNE1):c.12351+2T>C
|
rs2154000325
|
|
|
NM_182961.4(SYNE1):c.12354T>G (p.Ile4118Met)
|
rs144274149
|
|
|
NM_182961.4(SYNE1):c.12362_12363delinsGT (p.Lys4121Ser)
|
rs386707192
|
|
|
NM_182961.4(SYNE1):c.12371A>C (p.Gln4124Pro)
|
rs911413208
|
|
|
NM_182961.4(SYNE1):c.12380A>G (p.Asn4127Ser)
|
|
|
|
NM_182961.4(SYNE1):c.12400G>A (p.Glu4134Lys)
|
rs898572784
|
|
|
NM_182961.4(SYNE1):c.12408G>A (p.Lys4136=)
|
|
|
|
NM_182961.4(SYNE1):c.12444T>C (p.Asp4148=)
|
rs2096403666
|
|
|
NM_182961.4(SYNE1):c.12446C>A (p.Ala4149Asp)
|
|
|
|
NM_182961.4(SYNE1):c.12457C>A (p.Leu4153Met)
|
rs2096403501
|
|
|
NM_182961.4(SYNE1):c.12470A>G (p.Lys4157Arg)
|
|
|
|
NM_182961.4(SYNE1):c.12489G>A (p.Leu4163=)
|
|
|
|
NM_182961.4(SYNE1):c.12492G>T (p.Glu4164Asp)
|
rs763067012
|
|
|
NM_182961.4(SYNE1):c.12496A>C (p.Asn4166His)
|
rs147385939
|
|
|
NM_182961.4(SYNE1):c.12528+8T>C
|
rs1590375315
|
|
|
NM_182961.4(SYNE1):c.12535_12537del (p.Val4179del)
|
rs1356327027
|
|
|
NM_182961.4(SYNE1):c.12546A>G (p.Leu4182=)
|
|
|
|
NM_182961.4(SYNE1):c.1254G>A (p.Leu418=)
|
|
|
|
NM_182961.4(SYNE1):c.1254G>T (p.Leu418=)
|
rs777939640
|
|
|
NM_182961.4(SYNE1):c.12552C>G (p.Ser4184Arg)
|
|
|
|
NM_182961.4(SYNE1):c.12573C>A (p.Thr4191=)
|
rs143851739
|
|
|
NM_182961.4(SYNE1):c.12574A>G (p.Ile4192Val)
|
|
|
|
NM_182961.4(SYNE1):c.12584del (p.Lys4195fs)
|
rs886042380
|
|
|
NM_182961.4(SYNE1):c.12585G>A (p.Lys4195=)
|
rs149536991
|
|
|
NM_182961.4(SYNE1):c.12585G>T (p.Lys4195Asn)
|
rs149536991
|
|
|
NM_182961.4(SYNE1):c.12596T>A (p.Leu4199Ter)
|
|
|
|
NM_182961.4(SYNE1):c.12598A>G (p.Thr4200Ala)
|
|
|
|
NM_182961.4(SYNE1):c.1259G>A (p.Arg420Lys)
|
|
|
|
NM_182961.4(SYNE1):c.12606G>A (p.Lys4202=)
|
|
|
|
NM_182961.4(SYNE1):c.12636T>C (p.Asn4212=)
|
|
|
|
NM_182961.4(SYNE1):c.12638A>G (p.His4213Arg)
|
rs1032510868
|
|
|
NM_182961.4(SYNE1):c.1263G>C (p.Ala421=)
|
rs949049150
|
|
|
NM_182961.4(SYNE1):c.12647A>G (p.Asp4216Gly)
|
rs1363382711
|
|
|
NM_182961.4(SYNE1):c.12666C>G (p.Cys4222Trp)
|
rs866991892
|
|
|
NM_182961.4(SYNE1):c.12668G>A (p.Arg4223His)
|
|
|
|
NM_182961.4(SYNE1):c.12668G>T (p.Arg4223Leu)
|
rs140492158
|
|
|
NM_182961.4(SYNE1):c.12676A>C (p.Asn4226His)
|
rs2096319568
|
|
|
NM_182961.4(SYNE1):c.12679A>C (p.Asn4227His)
|
|
|
|
NM_182961.4(SYNE1):c.12684G>C (p.Leu4228=)
|
rs2153982221
|
|
|
NM_182961.4(SYNE1):c.1269G>A (p.Val423=)
|
|
|
|
NM_182961.4(SYNE1):c.12719G>A (p.Arg4240Lys)
|
|
|
|
NM_182961.4(SYNE1):c.1271C>T (p.Ala424Val)
|
|
|
|
NM_182961.4(SYNE1):c.12734G>A (p.Cys4245Tyr)
|
rs1590300572
|
|
|
NM_182961.4(SYNE1):c.12743T>C (p.Val4248Ala)
|
|
|
|
NM_182961.4(SYNE1):c.12795-14C>A
|
|
|
|
NM_182961.4(SYNE1):c.12795A>G (p.Arg4265=)
|
rs1554474578
|
|
|
NM_182961.4(SYNE1):c.12809G>A (p.Ser4270Asn)
|
|
|
|
NM_182961.4(SYNE1):c.1284A>C (p.Glu428Asp)
|
|
|
|
NM_182961.4(SYNE1):c.12852A>G (p.Ala4284=)
|
|
|
|
NM_182961.4(SYNE1):c.12876T>C (p.Ile4292=)
|
|
|
|
NM_182961.4(SYNE1):c.12887A>T (p.Lys4296Ile)
|
|
|
|
NM_182961.4(SYNE1):c.12891_12901del (p.Asp4297fs)
|
|
|
|
NM_182961.4(SYNE1):c.12897G>A (p.Lys4299=)
|
|
|
|
NM_182961.4(SYNE1):c.129+3A>G
|
|
|
|
NM_182961.4(SYNE1):c.129+7G>A
|
rs1219452466
|
|
|
NM_182961.4(SYNE1):c.12907A>G (p.Ile4303Val)
|
rs758301679
|
|
|
NM_182961.4(SYNE1):c.1290C>T (p.Thr430=)
|
rs755709525
|
|
|
NM_182961.4(SYNE1):c.12914A>T (p.His4305Leu)
|
|
|
|
NM_182961.4(SYNE1):c.1291G>A (p.Val431Ile)
|
|
|
|
NM_182961.4(SYNE1):c.12923T>C (p.Leu4308Ser)
|
|
|
|
NM_182961.4(SYNE1):c.12927T>C (p.Asp4309=)
|
|
|
|
NM_182961.4(SYNE1):c.12941T>C (p.Val4314Ala)
|
rs2153974951
|
|
|
NM_182961.4(SYNE1):c.12948A>G (p.Glu4316=)
|
rs1590242706
|
|
|
NM_182961.4(SYNE1):c.12956G>A (p.Ser4319Asn)
|
rs2153974889
|
|
|
NM_182961.4(SYNE1):c.12971G>A (p.Arg4324His)
|
|
|
|
NM_182961.4(SYNE1):c.12997A>G (p.Lys4333Glu)
|
|
|
|
NM_182961.4(SYNE1):c.12C>T (p.Ser4=)
|
|
|
|
NM_182961.4(SYNE1):c.130-13T>G
|
|
|
|
NM_182961.4(SYNE1):c.13002G>A (p.Arg4334=)
|
rs2096250896
|
|
|
NM_182961.4(SYNE1):c.13011A>T (p.Gln4337His)
|
|
|
|
NM_182961.4(SYNE1):c.13021_13022del (p.Thr4341fs)
|
|
|
|
NM_182961.4(SYNE1):c.13023C>G (p.Thr4341=)
|
|
|
|
NM_182961.4(SYNE1):c.13064A>G (p.Glu4355Gly)
|
rs2153974617
|
|
|
NM_182961.4(SYNE1):c.1309G>A (p.Glu437Lys)
|
rs2154294590
|
|
|
NM_182961.4(SYNE1):c.13102G>T (p.Ala4368Ser)
|
rs201900423
|
|
|
NM_182961.4(SYNE1):c.13120A>G (p.Ser4374Gly)
|
|
|
|
NM_182961.4(SYNE1):c.13136T>C (p.Met4379Thr)
|
|
|
|
NM_182961.4(SYNE1):c.13153A>G (p.Met4385Val)
|
|
|
|
NM_182961.4(SYNE1):c.13187C>T (p.Ala4396Val)
|
|
|
|
NM_182961.4(SYNE1):c.13191G>A (p.Lys4397=)
|
rs2153974179
|
|
|
NM_182961.4(SYNE1):c.13195A>T (p.Met4399Leu)
|
|
|
|
NM_182961.4(SYNE1):c.13197G>T (p.Met4399Ile)
|
|
|
|
NM_182961.4(SYNE1):c.1323G>A (p.Thr441=)
|
rs748132028
|
|
|
NM_182961.4(SYNE1):c.13240G>T (p.Asp4414Tyr)
|
|
|
|
NM_182961.4(SYNE1):c.13257G>A (p.Glu4419=)
|
rs777483692
|
|
|
NM_182961.4(SYNE1):c.13259G>A (p.Arg4420Gln)
|
rs766831979
|
|
|
NM_182961.4(SYNE1):c.13279C>G (p.Leu4427Val)
|
|
|
|
NM_182961.4(SYNE1):c.13289C>T (p.Ala4430Val)
|
|
|
|
NM_182961.4(SYNE1):c.13307G>A (p.Cys4436Tyr)
|
rs1405025412
|
|
|
NM_182961.4(SYNE1):c.13323G>T (p.Val4441=)
|
rs770562637
|
|
|
NM_182961.4(SYNE1):c.13359C>T (p.Ser4453=)
|
|
|
|
NM_182961.4(SYNE1):c.13372T>A (p.Phe4458Ile)
|
rs2153973664
|
|
|
NM_182961.4(SYNE1):c.13381G>A (p.Ala4461Thr)
|
|
|
|
NM_182961.4(SYNE1):c.1338T>C (p.Leu446=)
|
|
|
|
NM_182961.4(SYNE1):c.13418A>G (p.Glu4473Gly)
|
rs1202464044
|
|
|
NM_182961.4(SYNE1):c.13422A>G (p.Arg4474=)
|
rs1590231826
|
|
|
NM_182961.4(SYNE1):c.13436G>T (p.Arg4479Leu)
|
rs768085752
|
|
|
NM_182961.4(SYNE1):c.13443C>T (p.His4481=)
|
|
|
|
NM_182961.4(SYNE1):c.13475A>T (p.Gln4492Leu)
|
|
|
|
NM_182961.4(SYNE1):c.13486T>G (p.Cys4496Gly)
|
rs2153973254
|
|
|
NM_182961.4(SYNE1):c.1351-15T>A
|
rs750754911
|
|
|
NM_182961.4(SYNE1):c.1351-15del
|
|
|
|
NM_182961.4(SYNE1):c.1351-20T>A
|
|
|
|
NM_182961.4(SYNE1):c.1351-6T>C
|
rs1441507558
|
|
|
NM_182961.4(SYNE1):c.13511A>C (p.Lys4504Thr)
|
|
|
|
NM_182961.4(SYNE1):c.13513A>T (p.Thr4505Ser)
|
|
|
|
NM_182961.4(SYNE1):c.13532C>T (p.Thr4511Ile)
|
rs1554471456
|
|
|
NM_182961.4(SYNE1):c.13535G>C (p.Gly4512Ala)
|
rs933108692
|
|
|
NM_182961.4(SYNE1):c.13536A>T (p.Gly4512=)
|
|
|
|
NM_182961.4(SYNE1):c.13537C>G (p.Leu4513Val)
|
|
|
|
NM_182961.4(SYNE1):c.13543G>C (p.Ala4515Pro)
|
|
|
|
NM_182961.4(SYNE1):c.13545C>T (p.Ala4515=)
|
rs2153973054
|
|
|
NM_182961.4(SYNE1):c.13554C>G (p.Arg4518=)
|
rs115535983
|
|
|
NM_182961.4(SYNE1):c.13562T>C (p.Met4521Thr)
|
|
|
|
NM_182961.4(SYNE1):c.13587G>C (p.Lys4529Asn)
|
rs1265607198
|
|
|
NM_182961.4(SYNE1):c.13598T>C (p.Leu4533Pro)
|
rs2096237841
|
|
|
NM_182961.4(SYNE1):c.1360C>G (p.Gln454Glu)
|
rs542819749
|
|
|
NM_182961.4(SYNE1):c.13620G>C (p.Gln4540His)
|
rs755192690
|
|
|
NM_182961.4(SYNE1):c.13626C>T (p.Val4542=)
|
rs766469216
|
|
|
NM_182961.4(SYNE1):c.13628A>T (p.Tyr4543Phe)
|
rs138770612
|
|
|
NM_182961.4(SYNE1):c.13658G>A (p.Arg4553Gln)
|
|
|
|
NM_182961.4(SYNE1):c.13725C>T (p.Cys4575=)
|
|
|
|
NM_182961.4(SYNE1):c.13749_13751delinsGTG (p.Ile4583_Val4584delinsMetCys)
|
rs1590225545
|
|
|
NM_182961.4(SYNE1):c.13751T>A (p.Val4584Asp)
|
rs968829958
|
|
|
NM_182961.4(SYNE1):c.13752T>C (p.Val4584=)
|
|
|
|
NM_182961.4(SYNE1):c.13796A>G (p.His4599Arg)
|
|
|
|
NM_182961.4(SYNE1):c.13825C>A (p.Leu4609Ile)
|
rs2153972296
|
|
|
NM_182961.4(SYNE1):c.13832A>T (p.Gln4611Leu)
|
rs762392590
|
|
|
NM_182961.4(SYNE1):c.13845T>C (p.Tyr4615=)
|
|
|
|
NM_182961.4(SYNE1):c.13851TCT[1] (p.Leu4620del)
|
rs1085307610
|
|
|
NM_182961.4(SYNE1):c.13863G>T (p.Thr4621=)
|
|
|
|
NM_182961.4(SYNE1):c.13877G>C (p.Gly4626Ala)
|
rs2096230090
|
|
|
NM_182961.4(SYNE1):c.13902T>C (p.Asn4634=)
|
|
|
|
NM_182961.4(SYNE1):c.13934_13935insTTT (p.Leu4645dup)
|
rs886043161
|
|
|
NM_182961.4(SYNE1):c.13952A>G (p.Gln4651Arg)
|
rs374697325
|
|
|
NM_182961.4(SYNE1):c.13998C>G (p.Val4666=)
|
|
|
|
NM_182961.4(SYNE1):c.14061G>T (p.Leu4687=)
|
rs3734365
|
|
|
NM_182961.4(SYNE1):c.14106C>T (p.Thr4702=)
|
rs146180064
|
|
|
NM_182961.4(SYNE1):c.1410G>T (p.Arg470Ser)
|
|
|
|
NM_182961.4(SYNE1):c.14116G>C (p.Val4706Leu)
|
rs374596074
|
|
|
NM_182961.4(SYNE1):c.1413T>C (p.Ser471=)
|
|
|
|
NM_182961.4(SYNE1):c.14147G>A (p.Cys4716Tyr)
|
rs1346910826
|
|
|
NM_182961.4(SYNE1):c.14180G>A (p.Gly4727Glu)
|
|
|
|
NM_182961.4(SYNE1):c.14198T>A (p.Leu4733Gln)
|
|
|
|
NM_182961.4(SYNE1):c.1419C>T (p.Asn473=)
|
|
|
|
NM_182961.4(SYNE1):c.14226C>T (p.Ser4742=)
|
rs2153970972
|
|
|
NM_182961.4(SYNE1):c.14234A>G (p.Gln4745Arg)
|
|
|
|
NM_182961.4(SYNE1):c.14247A>G (p.Pro4749=)
|
|
|
|
NM_182961.4(SYNE1):c.1424T>C (p.Ile475Thr)
|
|
|
|
NM_182961.4(SYNE1):c.14253G>C (p.Lys4751Asn)
|
rs766721753
|
|
|
NM_182961.4(SYNE1):c.14278del (p.His4760fs)
|
rs2153970781
|
|
|
NM_182961.4(SYNE1):c.14279A>T (p.His4760Leu)
|
|
|
|
NM_182961.4(SYNE1):c.14290C>T (p.Arg4764Ter)
|
|
|
|
NM_182961.4(SYNE1):c.14318T>C (p.Leu4773Ser)
|
|
|
|
NM_182961.4(SYNE1):c.14319A>T (p.Leu4773Phe)
|
|
|
|
NM_182961.4(SYNE1):c.1432C>T (p.Pro478Ser)
|
rs756636517
|
|
|
NM_182961.4(SYNE1):c.14331C>T (p.Thr4777=)
|
rs768076321
|
|
|
NM_182961.4(SYNE1):c.14335G>A (p.Ala4779Thr)
|
rs368490158
|
|
|
NM_182961.4(SYNE1):c.14353A>G (p.Lys4785Glu)
|
rs2153970528
|
|
|
NM_182961.4(SYNE1):c.14359T>C (p.Cys4787Arg)
|
|
|
|
NM_182961.4(SYNE1):c.14378A>G (p.Gln4793Arg)
|
|
|
|
NM_182961.4(SYNE1):c.14398G>C (p.Glu4800Gln)
|
rs2096215013
|
|
|
NM_182961.4(SYNE1):c.14423C>T (p.Thr4808Met)
|
rs373040273
|
|
|
NM_182961.4(SYNE1):c.14439G>A (p.Glu4813=)
|
|
|
|
NM_182961.4(SYNE1):c.14441A>G (p.Lys4814Arg)
|
|
|
|
NM_182961.4(SYNE1):c.14465C>A (p.Ala4822Glu)
|
|
|
|
NM_182961.4(SYNE1):c.14508C>T (p.Thr4836=)
|
|
|
|
NM_182961.4(SYNE1):c.14522A>G (p.Asp4841Gly)
|
rs2096212044
|
|
|
NM_182961.4(SYNE1):c.14548G>A (p.Ala4850Thr)
|
|
|
|
NM_182961.4(SYNE1):c.1455G>A (p.Met485Ile)
|
rs2154279827
|
|
|
NM_182961.4(SYNE1):c.14565G>A (p.Arg4855=)
|
|
|
|
NM_182961.4(SYNE1):c.14571G>A (p.Gln4857=)
|
rs1327323805
|
|
|
NM_182961.4(SYNE1):c.14578T>A (p.Ser4860Thr)
|
|
|
|
NM_182961.4(SYNE1):c.1458C>A (p.Ala486=)
|
|
|
|
NM_182961.4(SYNE1):c.1459G>A (p.Glu487Lys)
|
|
|
|
NM_182961.4(SYNE1):c.14609C>T (p.Ser4870Phe)
|
|
|
|
NM_182961.4(SYNE1):c.14611G>A (p.Ala4871Thr)
|
rs2096210316
|
|
|
NM_182961.4(SYNE1):c.14617G>A (p.Gly4873Ser)
|
rs2153969748
|
|
|
NM_182961.4(SYNE1):c.14619T>G (p.Gly4873=)
|
rs1355049690
|
|
|
NM_182961.4(SYNE1):c.14626G>A (p.Val4876Met)
|
rs1297328408
|
|
|
NM_182961.4(SYNE1):c.14636G>A (p.Cys4879Tyr)
|
|
|
|
NM_182961.4(SYNE1):c.14639A>G (p.Glu4880Gly)
|
|
|
|
NM_182961.4(SYNE1):c.14649G>A (p.Met4883Ile)
|
rs922999800
|
|
|
NM_182961.4(SYNE1):c.14664C>T (p.Asp4888=)
|
|
|
|
NM_182961.4(SYNE1):c.14673del (p.Glu4892fs)
|
|
|
|
NM_182961.4(SYNE1):c.14681G>A (p.Ser4894Asn)
|
rs2096207947
|
|
|
NM_182961.4(SYNE1):c.14695T>C (p.Trp4899Arg)
|
rs753891807
|
|
|
NM_182961.4(SYNE1):c.14738T>C (p.Leu4913Pro)
|
rs2096206184
|
|
|
NM_182961.4(SYNE1):c.14739A>G (p.Leu4913=)
|
|
|
|
NM_182961.4(SYNE1):c.14741A>G (p.Asp4914Gly)
|
|
|
|
NM_182961.4(SYNE1):c.14750T>A (p.Leu4917Gln)
|
rs2153969244
|
|
|
NM_182961.4(SYNE1):c.14751G>A (p.Leu4917=)
|
rs769489729
|
|
|
NM_182961.4(SYNE1):c.14756A>G (p.Asp4919Gly)
|
rs2096205614
|
|
|
NM_182961.4(SYNE1):c.14782C>G (p.Gln4928Glu)
|
|
|
|
NM_182961.4(SYNE1):c.14808C>T (p.Ser4936=)
|
rs886044346
|
|
|
NM_182961.4(SYNE1):c.14809A>C (p.Ser4937Arg)
|
rs780093837
|
|
|
NM_182961.4(SYNE1):c.1481C>T (p.Ser494Phe)
|
|
|
|
NM_182961.4(SYNE1):c.14829G>T (p.Ala4943=)
|
|
|
|
NM_182961.4(SYNE1):c.1483A>G (p.Thr495Ala)
|
rs200954103
|
|
|
NM_182961.4(SYNE1):c.14854T>C (p.Phe4952Leu)
|
rs1044018341
|
|
|
NM_182961.4(SYNE1):c.14883G>C (p.Ala4961=)
|
rs539549948
|
|
|
NM_182961.4(SYNE1):c.148G>A (p.Val50Met)
|
rs1023433513
|
|
|
NM_182961.4(SYNE1):c.14917C>G (p.Leu4973Val)
|
rs35085679
|
|
|
NM_182961.4(SYNE1):c.14928C>T (p.Asp4976=)
|
rs2153968669
|
|
|
NM_182961.4(SYNE1):c.14955+7A>G
|
|
|
|
NM_182961.4(SYNE1):c.14956-14T>G
|
rs368344443
|
|
|
NM_182961.4(SYNE1):c.14956-19T>A
|
|
|
|
NM_182961.4(SYNE1):c.14978G>A (p.Ser4993Asn)
|
|
|
|
NM_182961.4(SYNE1):c.1498C>T (p.Leu500=)
|
|
|
|
NM_182961.4(SYNE1):c.1500A>G (p.Leu500=)
|
|
|
|
NM_182961.4(SYNE1):c.15045G>A (p.Leu5015=)
|
rs2153955529
|
|
|
NM_182961.4(SYNE1):c.15065G>T (p.Gly5022Val)
|
|
|
|
NM_182961.4(SYNE1):c.15073G>A (p.Val5025Met)
|
|
|
|
NM_182961.4(SYNE1):c.15080G>A (p.Ser5027Asn)
|
|
|
|
NM_182961.4(SYNE1):c.15089A>G (p.Glu5030Gly)
|
rs1563087715
|
|
|
NM_182961.4(SYNE1):c.15095T>C (p.Leu5032Pro)
|
rs2153955400
|
|
|
NM_182961.4(SYNE1):c.15122C>T (p.Thr5041Ile)
|
|
|
|
NM_182961.4(SYNE1):c.15124G>A (p.Glu5042Lys)
|
rs533927341
|
|
|
NM_182961.4(SYNE1):c.15140G>T (p.Ser5047Ile)
|
|
|
|
NM_182961.4(SYNE1):c.15151_15152delinsAT (p.Glu5051Met)
|
rs2096068834
|
|
|
NM_182961.4(SYNE1):c.15162C>A (p.Ser5054Arg)
|
|
|
|
NM_182961.4(SYNE1):c.1516T>C (p.Leu506=)
|
rs2154279133
|
|
|
NM_182961.4(SYNE1):c.15181C>G (p.Pro5061Ala)
|
rs886042595
|
|
|
NM_182961.4(SYNE1):c.15188T>C (p.Ile5063Thr)
|
rs1486769103
|
|
|
NM_182961.4(SYNE1):c.15220A>G (p.Lys5074Glu)
|
|
|
|
NM_182961.4(SYNE1):c.15227C>T (p.Ala5076Val)
|
rs756766678
|
|
|
NM_182961.4(SYNE1):c.1528T>A (p.Tyr510Asn)
|
rs2154279114
|
|
|
NM_182961.4(SYNE1):c.15294-14T>C
|
|
|
|
NM_182961.4(SYNE1):c.15294-15T>C
|
rs2153953166
|
|
|
NM_182961.4(SYNE1):c.152A>G (p.Asp51Gly)
|
|
|
|
NM_182961.4(SYNE1):c.15304C>T (p.Gln5102Ter)
|
rs1270730854
|
|
|
NM_182961.4(SYNE1):c.1532G>A (p.Arg511His)
|
rs1432273399
|
|
|
NM_182961.4(SYNE1):c.15335A>C (p.Glu5112Ala)
|
rs2153953000
|
|
|
NM_182961.4(SYNE1):c.15341T>C (p.Ile5114Thr)
|
|
|
|
NM_182961.4(SYNE1):c.15363A>G (p.Glu5121=)
|
rs2153952873
|
|
|
NM_182961.4(SYNE1):c.15364A>G (p.Lys5122Glu)
|
rs1309063617
|
|
|
NM_182961.4(SYNE1):c.15368A>G (p.Lys5123Arg)
|
rs2153952840
|
|
|
NM_182961.4(SYNE1):c.1539C>G (p.Leu513=)
|
|
|
|
NM_182961.4(SYNE1):c.1539C>T (p.Leu513=)
|
|
|
|
NM_182961.4(SYNE1):c.153C>T (p.Asp51=)
|
rs779081280
|
|
|
NM_182961.4(SYNE1):c.15423A>C (p.Lys5141Asn)
|
|
|
|
NM_182961.4(SYNE1):c.15428C>T (p.Ser5143Leu)
|
|
|
|
NM_182961.4(SYNE1):c.15434A>G (p.His5145Arg)
|
rs2153952625
|
|
|
NM_182961.4(SYNE1):c.15453G>A (p.Val5151=)
|
|
|
|
NM_182961.4(SYNE1):c.1546C>A (p.Leu516Met)
|
|
|
|
NM_182961.4(SYNE1):c.15470A>T (p.Glu5157Val)
|
|
|
|
NM_182961.4(SYNE1):c.15497C>T (p.Ala5166Val)
|
rs2153949505
|
|
|
NM_182961.4(SYNE1):c.154G>A (p.Asp52Asn)
|
rs560155321
|
|
|
NM_182961.4(SYNE1):c.15500C>T (p.Ser5167Leu)
|
|
|
|
NM_182961.4(SYNE1):c.15516C>G (p.Thr5172=)
|
rs777234795
|
|
|
NM_182961.4(SYNE1):c.15516C>T (p.Thr5172=)
|
rs777234795
|
|
|
NM_182961.4(SYNE1):c.15533A>T (p.Lys5178Ile)
|
rs2096026505
|
|
|
NM_182961.4(SYNE1):c.15535G>A (p.Ala5179Thr)
|
|
|
|
NM_182961.4(SYNE1):c.15540C>G (p.Thr5180=)
|
rs748254961
|
|
|
NM_182961.4(SYNE1):c.15554T>C (p.Met5185Thr)
|
|
|
|
NM_182961.4(SYNE1):c.15561C>A (p.Thr5187=)
|
rs780148867
|
|
|
NM_182961.4(SYNE1):c.15561C>T (p.Thr5187=)
|
|
|
|
NM_182961.4(SYNE1):c.1557A>G (p.Ala519=)
|
|
|
|
NM_182961.4(SYNE1):c.15580C>G (p.Arg5194Gly)
|
|
|
|
NM_182961.4(SYNE1):c.15581G>A (p.Arg5194His)
|
rs751121212
|
|
|
NM_182961.4(SYNE1):c.15584T>G (p.Leu5195Arg)
|
rs758161214
|
|
|
NM_182961.4(SYNE1):c.15586C>T (p.Arg5196Ter)
|
|
|
|
NM_182961.4(SYNE1):c.15587G>C (p.Arg5196Pro)
|
rs752229373
|
|
|
NM_182961.4(SYNE1):c.15618G>A (p.Leu5206=)
|
rs143034606
|
|
|
NM_182961.4(SYNE1):c.15620A>G (p.Glu5207Gly)
|
|
|
|
NM_182961.4(SYNE1):c.15636G>A (p.Glu5212=)
|
|
|
|
NM_182961.4(SYNE1):c.1563A>G (p.Ser521=)
|
|
|
|
NM_182961.4(SYNE1):c.15641C>T (p.Thr5214Met)
|
|
|
|
NM_182961.4(SYNE1):c.15657+19G>A
|
|
|
|
NM_182961.4(SYNE1):c.15657+7T>G
|
|
|
|
NM_182961.4(SYNE1):c.15658-12A>G
|
|
|
|
NM_182961.4(SYNE1):c.15658-16G>A
|
|
|
|
NM_182961.4(SYNE1):c.15678G>A (p.Met5226Ile)
|
rs2095955611
|
|
|
NM_182961.4(SYNE1):c.15681_15684del (p.Asp5228fs)
|
rs1291249200
|
|
|
NM_182961.4(SYNE1):c.15704C>T (p.Pro5235Leu)
|
rs2095954870
|
|
|
NM_182961.4(SYNE1):c.15729G>A (p.Ser5243=)
|
rs1417590001
|
|
|
NM_182961.4(SYNE1):c.15750T>A (p.Leu5250=)
|
rs779480129
|
|
|
NM_182961.4(SYNE1):c.15763G>A (p.Asp5255Asn)
|
|
|
|
NM_182961.4(SYNE1):c.15767C>G (p.Thr5256Arg)
|
rs1379759625
|
|
|
NM_182961.4(SYNE1):c.15767C>T (p.Thr5256Met)
|
|
|
|
NM_182961.4(SYNE1):c.15771C>T (p.Phe5257=)
|
rs763330101
|
|
|
NM_182961.4(SYNE1):c.15772G>A (p.Val5258Ile)
|
|
|
|
NM_182961.4(SYNE1):c.15774T>A (p.Val5258=)
|
rs2095952504
|
|
|
NM_182961.4(SYNE1):c.15791A>G (p.Gln5264Arg)
|
rs2153938686
|
|
|
NM_182961.4(SYNE1):c.15798G>A (p.Ser5266=)
|
|
|
|
NM_182961.4(SYNE1):c.15816G>C (p.Arg5272=)
|
rs762050069
|
|
|
NM_182961.4(SYNE1):c.15830G>A (p.Ser5277Asn)
|
rs2095950565
|
|
|
NM_182961.4(SYNE1):c.15837_15917+69del
|
rs2153937126
|
|
|
NM_182961.4(SYNE1):c.15841G>A (p.Asp5281Asn)
|
rs1322082202
|
|
|
NM_182961.4(SYNE1):c.15849C>G (p.Ala5283=)
|
|
|
|
NM_182961.4(SYNE1):c.15849C>T (p.Ala5283=)
|
rs748953708
|
|
|
NM_182961.4(SYNE1):c.15850G>A (p.Ala5284Thr)
|
|
|
|
NM_182961.4(SYNE1):c.15858C>G (p.Thr5286=)
|
|
|
|
NM_182961.4(SYNE1):c.15860C>T (p.Pro5287Leu)
|
rs758942889
|
|
|
NM_182961.4(SYNE1):c.15880A>G (p.Met5294Val)
|
rs768403781
|
|
|
NM_182961.4(SYNE1):c.15881T>C (p.Met5294Thr)
|
rs748905719
|
|
|
NM_182961.4(SYNE1):c.15897C>T (p.Ala5299=)
|
rs1590061246
|
|
|
NM_182961.4(SYNE1):c.15898A>T (p.Met5300Leu)
|
rs1221150819
|
|
|
NM_182961.4(SYNE1):c.15907C>A (p.Arg5303=)
|
rs149215868
|
|
|
NM_182961.4(SYNE1):c.15913C>A (p.Leu5305Met)
|
rs2153937753
|
|
|
NM_182961.4(SYNE1):c.15917+3A>T
|
rs2153937725
|
|
|
NM_182961.4(SYNE1):c.15919A>T (p.Met5307Leu)
|
rs1554441847
|
|
|
NM_182961.4(SYNE1):c.15951G>C (p.Leu5317Phe)
|
|
|
|
NM_182961.4(SYNE1):c.1596G>A (p.Arg532=)
|
rs771982103
|
|
|
NM_182961.4(SYNE1):c.15973C>T (p.Arg5325Ter)
|
rs781354327
|
|
|
NM_182961.4(SYNE1):c.15978A>C (p.Glu5326Asp)
|
rs2095874810
|
|
|
NM_182961.4(SYNE1):c.16021G>A (p.Glu5341Lys)
|
rs765080592
|
|
|
NM_182961.4(SYNE1):c.16039G>T (p.Gly5347Trp)
|
|
|
|
NM_182961.4(SYNE1):c.1603T>A (p.Ser535Thr)
|
|
|
|
NM_182961.4(SYNE1):c.16048A>G (p.Thr5350Ala)
|
rs2095873538
|
|
|
NM_182961.4(SYNE1):c.16050AATAGA[1] (p.Glu5352_Ile5353del)
|
rs1487695655
|
|
|
NM_182961.4(SYNE1):c.16067A>T (p.Gln5356Leu)
|
|
|
|
NM_182961.4(SYNE1):c.16083+16_16083+18del
|
rs756884141
|
|
|
NM_182961.4(SYNE1):c.16084-11C>A
|
|
|
|
NM_182961.4(SYNE1):c.16084-13A>G
|
|
|
|
NM_182961.4(SYNE1):c.16102A>G (p.Thr5368Ala)
|
rs1342214470
|
|
|
NM_182961.4(SYNE1):c.16111C>T (p.Arg5371Ter)
|
rs772587027
|
|
|
NM_182961.4(SYNE1):c.16156T>C (p.Leu5386=)
|
rs2095864787
|
|
|
NM_182961.4(SYNE1):c.16158A>T (p.Leu5386Phe)
|
rs942561370
|
|
|
NM_182961.4(SYNE1):c.1617T>C (p.Leu539=)
|
rs886043491
|
|
|
NM_182961.4(SYNE1):c.16204G>A (p.Glu5402Lys)
|
rs1320150804
|
|
|
NM_182961.4(SYNE1):c.16205A>T (p.Glu5402Val)
|
rs2153923807
|
|
|
NM_182961.4(SYNE1):c.16228C>G (p.Arg5410Gly)
|
|
|
|
NM_182961.4(SYNE1):c.16236+4A>C
|
|
|
|
NM_182961.4(SYNE1):c.16236+7C>T
|
|
|
|
NM_182961.4(SYNE1):c.16237-2A>G
|
rs2153903647
|
|
|
NM_182961.4(SYNE1):c.16237-3del
|
rs752661566
|
|
|
NM_182961.4(SYNE1):c.16237-3dup
|
|
|
|
NM_182961.4(SYNE1):c.1623A>G (p.Gln541=)
|
|
|
|
NM_182961.4(SYNE1):c.16248A>C (p.Lys5416Asn)
|
rs2095804308
|
|
|
NM_182961.4(SYNE1):c.16257A>G (p.Glu5419=)
|
|
|
|
NM_182961.4(SYNE1):c.16278G>T (p.Thr5426=)
|
|
|
|
NM_182961.4(SYNE1):c.16294C>A (p.Arg5432=)
|
rs575137601
|
|
|
NM_182961.4(SYNE1):c.1632+11del
|
rs763013262
|
|
|
NM_182961.4(SYNE1):c.1632+12G>A
|
|
|
|
NM_182961.4(SYNE1):c.1632+3G>A
|
|
|
|
NM_182961.4(SYNE1):c.1632+7C>A
|
rs779081729
|
|
|
NM_182961.4(SYNE1):c.16326A>G (p.Thr5442=)
|
|
|
|
NM_182961.4(SYNE1):c.16349C>A (p.Ala5450Glu)
|
rs181649865
|
|
|
NM_182961.4(SYNE1):c.16349C>T (p.Ala5450Val)
|
rs181649865
|
|
|
NM_182961.4(SYNE1):c.16355C>T (p.Thr5452Ile)
|
|
|
|
NM_182961.4(SYNE1):c.16383C>T (p.Asp5461=)
|
|
|
|
NM_182961.4(SYNE1):c.16388A>T (p.Lys5463Met)
|
|
|
|
NM_182961.4(SYNE1):c.16390-2A>C
|
rs759460806
|
|
|
NM_182961.4(SYNE1):c.16390-2A>G
|
rs759460806
|
|
|
NM_182961.4(SYNE1):c.16390-6A>G
|
rs886043083
|
|
|
NM_182961.4(SYNE1):c.16410T>C (p.Asp5470=)
|
|
|
|
NM_182961.4(SYNE1):c.16415G>A (p.Cys5472Tyr)
|
|
|
|
NM_182961.4(SYNE1):c.16434A>G (p.Glu5478=)
|
|
|
|
NM_182961.4(SYNE1):c.16442C>T (p.Ala5481Val)
|
|
|
|
NM_182961.4(SYNE1):c.16443A>C (p.Ala5481=)
|
rs1255821455
|
|
|
NM_182961.4(SYNE1):c.16461G>A (p.Leu5487=)
|
|
|
|
NM_182961.4(SYNE1):c.16472G>T (p.Gly5491Val)
|
rs530429418
|
|
|
NM_182961.4(SYNE1):c.16476A>G (p.Gln5492=)
|
rs141380170
|
|
|
NM_182961.4(SYNE1):c.16495A>C (p.Lys5499Gln)
|
rs2153899250
|
|
|
NM_182961.4(SYNE1):c.16501A>G (p.Ile5501Val)
|
rs2153899235
|
|
|
NM_182961.4(SYNE1):c.16534A>G (p.Ile5512Val)
|
rs2095781749
|
|
|
NM_182961.4(SYNE1):c.16551T>C (p.Asn5517=)
|
|
|
|
NM_182961.4(SYNE1):c.16573-11T>C
|
|
|
|
NM_182961.4(SYNE1):c.16575A>G (p.Ala5525=)
|
|
|
|
NM_182961.4(SYNE1):c.16578A>G (p.Ala5526=)
|
rs1589922810
|
|
|
NM_182961.4(SYNE1):c.16584T>C (p.His5528=)
|
|
|
|
NM_182961.4(SYNE1):c.16618T>C (p.Leu5540=)
|
rs2153893153
|
|
|
NM_182961.4(SYNE1):c.16619T>C (p.Leu5540Ser)
|
rs1563012099
|
|
|
NM_182961.4(SYNE1):c.16641A>T (p.Lys5547Asn)
|
rs2153893118
|
|
|
NM_182961.4(SYNE1):c.16648G>C (p.Ala5550Pro)
|
|
|
|
NM_182961.4(SYNE1):c.16662T>C (p.Ile5554=)
|
rs2153892983
|
|
|
NM_182961.4(SYNE1):c.16666T>A (p.Trp5556Arg)
|
rs2095739223
|
|
|
NM_182961.4(SYNE1):c.16673C>T (p.Ser5558Phe)
|
rs1379717748
|
|
|
NM_182961.4(SYNE1):c.16688G>A (p.Arg5563Gln)
|
|
|
|
NM_182961.4(SYNE1):c.16711-4C>G
|
rs2153837083
|
|
|
NM_182961.4(SYNE1):c.16746G>A (p.Glu5582=)
|
|
|
|
NM_182961.4(SYNE1):c.16763A>G (p.Glu5588Gly)
|
|
|
|
NM_182961.4(SYNE1):c.16764G>A (p.Glu5588=)
|
|
|
|
NM_182961.4(SYNE1):c.167A>G (p.Asp56Gly)
|
|
|
|
NM_182961.4(SYNE1):c.16809T>C (p.Ser5603=)
|
|
|
|
NM_182961.4(SYNE1):c.1680C>T (p.Tyr560=)
|
|
|
|
NM_182961.4(SYNE1):c.16811A>C (p.Gln5604Pro)
|
rs886043922
|
|
|
NM_182961.4(SYNE1):c.16813C>A (p.Gln5605Lys)
|
rs1045463275
|
|
|
NM_182961.4(SYNE1):c.16815_16821dup (p.Glu5608fs)
|
rs886043923
|
|
|
NM_182961.4(SYNE1):c.16834G>A (p.Glu5612Lys)
|
|
|
|
NM_182961.4(SYNE1):c.16840G>T (p.Glu5614Ter)
|
rs777656140
|
|
|
NM_182961.4(SYNE1):c.16849C>A (p.Arg5617=)
|
|
|
|
NM_182961.4(SYNE1):c.16859T>G (p.Ile5620Ser)
|
rs765080468
|
|
|
NM_182961.4(SYNE1):c.16882C>T (p.Gln5628Ter)
|
rs2153836962
|
|
|
NM_182961.4(SYNE1):c.16896+1G>T
|
|
|
|
NM_182961.4(SYNE1):c.16896+20del
|
rs545568394
|
|
|
NM_182961.4(SYNE1):c.16896+9dup
|
rs761957607
|
|
|
NM_182961.4(SYNE1):c.16897-20C>T
|
|
|
|
NM_182961.4(SYNE1):c.16897-6C>G
|
rs372179792
|
|
|
NM_182961.4(SYNE1):c.16909T>A (p.Phe5637Ile)
|
|
|
|
NM_182961.4(SYNE1):c.16921T>C (p.Leu5641=)
|
rs1554410681
|
|
|
NM_182961.4(SYNE1):c.16929G>A (p.Lys5643=)
|
|
|
|
NM_182961.4(SYNE1):c.16942T>C (p.Leu5648=)
|
|
|
|
NM_182961.4(SYNE1):c.16945G>A (p.Glu5649Lys)
|
rs2153836745
|
|
|
NM_182961.4(SYNE1):c.16958C>A (p.Ala5653Glu)
|
rs776905124
|
|
|
NM_182961.4(SYNE1):c.16963C>T (p.Leu5655=)
|
|
|
|
NM_182961.4(SYNE1):c.16974A>G (p.Pro5658=)
|
rs771166232
|
|
|
NM_182961.4(SYNE1):c.16978G>A (p.Val5660Ile)
|
|
|
|
NM_182961.4(SYNE1):c.16984C>A (p.Arg5662Ser)
|
rs145899734
|
|
|
NM_182961.4(SYNE1):c.16984C>T (p.Arg5662Cys)
|
rs145899734
|
|
|
NM_182961.4(SYNE1):c.17001G>A (p.Glu5667=)
|
rs2153836703
|
|
|
NM_182961.4(SYNE1):c.17015G>A (p.Arg5672Gln)
|
rs886043150
|
|
|
NM_182961.4(SYNE1):c.17019+7C>T
|
rs2095511412
|
|
|
NM_182961.4(SYNE1):c.17020-10G>A
|
rs1307856395
|
|
|
NM_182961.4(SYNE1):c.17020-12T>G
|
rs1236300785
|
|
|
NM_182961.4(SYNE1):c.17020-9C>A
|
rs2153836238
|
|
|
NM_182961.4(SYNE1):c.17037G>A (p.Met5679Ile)
|
rs2095499163
|
|
|
NM_182961.4(SYNE1):c.17051C>T (p.Pro5684Leu)
|
|
|
|
NM_182961.4(SYNE1):c.17053A>G (p.Lys5685Glu)
|
|
|
|
NM_182961.4(SYNE1):c.17063C>A (p.Ala5688Glu)
|
|
|
|
NM_182961.4(SYNE1):c.17065G>A (p.Val5689Met)
|
rs1479722158
|
|
|
NM_182961.4(SYNE1):c.17067G>C (p.Val5689=)
|
|
|
|
NM_182961.4(SYNE1):c.17079G>A (p.Gln5693=)
|
|
|
|
NM_182961.4(SYNE1):c.1707G>A (p.Met569Ile)
|
|
|
|
NM_182961.4(SYNE1):c.17121T>G (p.Pro5707=)
|
|
|
|
NM_182961.4(SYNE1):c.17133T>G (p.Ala5711=)
|
rs2153836101
|
|
|
NM_182961.4(SYNE1):c.17134G>T (p.Ala5712Ser)
|
rs2153836097
|
|
|
NM_182961.4(SYNE1):c.17145G>A (p.Leu5715=)
|
|
|
|
NM_182961.4(SYNE1):c.17150A>G (p.Glu5717Gly)
|
rs780396166
|
|
|
NM_182961.4(SYNE1):c.1715A>G (p.Lys572Arg)
|
rs1192063694
|
|
|
NM_182961.4(SYNE1):c.17161C>A (p.Arg5721=)
|
rs138941941
|
|
|
NM_182961.4(SYNE1):c.17161C>T (p.Arg5721Trp)
|
rs138941941
|
|
|
NM_182961.4(SYNE1):c.17176G>A (p.Ala5726Thr)
|
rs775685010
|
|
|
NM_182961.4(SYNE1):c.17176G>T (p.Ala5726Ser)
|
|
|
|
NM_182961.4(SYNE1):c.17202+16C>T
|
|
|
|
NM_182961.4(SYNE1):c.17202G>A (p.Gln5734=)
|
|
|
|
NM_182961.4(SYNE1):c.17203-15T>G
|
|
|
|
NM_182961.4(SYNE1):c.17203-3A>T
|
rs1156531105
|
|
|
NM_182961.4(SYNE1):c.17203-6del
|
rs55633181
|
|
|
NM_182961.4(SYNE1):c.17203-8T>C
|
|
|
|
NM_182961.4(SYNE1):c.17215C>T (p.Gln5739Ter)
|
rs746328978
|
|
|
NM_182961.4(SYNE1):c.17284G>T (p.Glu5762Ter)
|
|
|
|
NM_182961.4(SYNE1):c.1729+8A>C
|
|
|
|
NM_182961.4(SYNE1):c.17308A>G (p.Asn5770Asp)
|
|
|
|
NM_182961.4(SYNE1):c.17314C>A (p.Gln5772Lys)
|
rs2095448965
|
|
|
NM_182961.4(SYNE1):c.17322G>A (p.Leu5774=)
|
rs752995421
|
|
|
NM_182961.4(SYNE1):c.17326G>A (p.Ala5776Thr)
|
rs774018511
|
|
|
NM_182961.4(SYNE1):c.17346+16G>A
|
|
|
|
NM_182961.4(SYNE1):c.17346+17C>T
|
|
|
|
NM_182961.4(SYNE1):c.17346+18G>A
|
|
|
|
NM_182961.4(SYNE1):c.17347-13A>G
|
|
|
|
NM_182961.4(SYNE1):c.17347-5C>T
|
rs886043152
|
|
|
NM_182961.4(SYNE1):c.17367G>A (p.Lys5789=)
|
|
|
|
NM_182961.4(SYNE1):c.17368G>A (p.Gly5790Ser)
|
rs764611066
|
|
|
NM_182961.4(SYNE1):c.17369G>A (p.Gly5790Asp)
|
rs2153813360
|
|
|
NM_182961.4(SYNE1):c.17373C>A (p.Tyr5791Ter)
|
|
|
|
NM_182961.4(SYNE1):c.17426C>G (p.Ala5809Gly)
|
rs2095195177
|
|
|
NM_182961.4(SYNE1):c.17448G>C (p.Leu5816=)
|
|
|
|
NM_182961.4(SYNE1):c.17450C>T (p.Thr5817Met)
|
|
|
|
NM_182961.4(SYNE1):c.17458G>A (p.Glu5820Lys)
|
rs918895767
|
|
|
NM_182961.4(SYNE1):c.17458G>C (p.Glu5820Gln)
|
rs918895767
|
|
|
NM_182961.4(SYNE1):c.17459A>G (p.Glu5820Gly)
|
rs886042413
|
|
|
NM_182961.4(SYNE1):c.17471T>A (p.Leu5824Gln)
|
|
|
|
NM_182961.4(SYNE1):c.17483C>G (p.Thr5828Arg)
|
rs150376715
|
|
|
NM_182961.4(SYNE1):c.17484A>G (p.Thr5828=)
|
|
|
|
NM_182961.4(SYNE1):c.17488G>C (p.Asp5830His)
|
rs2095191599
|
|
|
NM_182961.4(SYNE1):c.17496T>C (p.Asp5832=)
|
|
|
|
NM_182961.4(SYNE1):c.17499G>A (p.Gly5833=)
|
rs754642929
|
|
|
NM_182961.4(SYNE1):c.17501A>T (p.Glu5834Val)
|
rs2153813002
|
|
|
NM_182961.4(SYNE1):c.17529C>G (p.Pro5843=)
|
rs775771199
|
|
|
NM_182961.4(SYNE1):c.17529C>T (p.Pro5843=)
|
rs775771199
|
|
|
NM_182961.4(SYNE1):c.17541+12G>T
|
|
|
|
NM_182961.4(SYNE1):c.17541+13_17541+15del
|
|
|
|
NM_182961.4(SYNE1):c.17541+17T>A
|
|
|
|
NM_182961.4(SYNE1):c.17542-5G>A
|
rs776747142
|
|
|
NM_182961.4(SYNE1):c.17582C>A (p.Thr5861Asn)
|
rs1450245566
|
|
|
NM_182961.4(SYNE1):c.17586G>A (p.Glu5862=)
|
rs186716473
|
|
|
NM_182961.4(SYNE1):c.17597A>C (p.Glu5866Ala)
|
|
|
|
NM_182961.4(SYNE1):c.17605A>G (p.Thr5869Ala)
|
rs2153809663
|
|
|
NM_182961.4(SYNE1):c.17610C>T (p.Asn5870=)
|
|
|
|
NM_182961.4(SYNE1):c.17628_17643del (p.Pro5877fs)
|
rs2153809530
|
|
|
NM_182961.4(SYNE1):c.17639G>T (p.Arg5880Leu)
|
rs767844376
|
|
|
NM_182961.4(SYNE1):c.17652T>C (p.Pro5884=)
|
|
|
|
NM_182961.4(SYNE1):c.17661T>C (p.Asn5887=)
|
|
|
|
NM_182961.4(SYNE1):c.17682+4C>T
|
|
|
|
NM_182961.4(SYNE1):c.17683-18T>C
|
|
|
|
NM_182961.4(SYNE1):c.17698C>G (p.Gln5900Glu)
|
|
|
|
NM_182961.4(SYNE1):c.17703C>T (p.Ala5901=)
|
|
|
|
NM_182961.4(SYNE1):c.1770C>T (p.Thr590=)
|
|
|
|
NM_182961.4(SYNE1):c.17713G>T (p.Glu5905Ter)
|
|
|
|
NM_182961.4(SYNE1):c.17716A>C (p.Arg5906=)
|
rs1178186821
|
|
|
NM_182961.4(SYNE1):c.17733T>G (p.Ala5911=)
|
rs1240369601
|
|
|
NM_182961.4(SYNE1):c.1773C>T (p.Thr591=)
|
|
|
|
NM_182961.4(SYNE1):c.17748C>T (p.Pro5916=)
|
|
|
|
NM_182961.4(SYNE1):c.1774G>A (p.Ala592Thr)
|
rs747150703
|
|
|
NM_182961.4(SYNE1):c.17758G>T (p.Ala5920Ser)
|
rs765300968
|
|
|
NM_182961.4(SYNE1):c.17778A>G (p.Glu5926=)
|
rs997194150
|
|
|
NM_182961.4(SYNE1):c.17796C>T (p.Ser5932=)
|
rs531884117
|
|
|
NM_182961.4(SYNE1):c.17801del (p.Thr5934fs)
|
|
|
|
NM_182961.4(SYNE1):c.17839T>C (p.Leu5947=)
|
rs2153785123
|
|
|
NM_182961.4(SYNE1):c.17850+4A>G
|
rs200922100
|
|
|
NM_182961.4(SYNE1):c.17851-6G>A
|
|
|
|
NM_182961.4(SYNE1):c.17865G>A (p.Gln5955=)
|
|
|
|
NM_182961.4(SYNE1):c.1786A>C (p.Asn596His)
|
|
|
|
NM_182961.4(SYNE1):c.17890C>T (p.Arg5964Cys)
|
|
|
|
NM_182961.4(SYNE1):c.17925C>A (p.Ile5975=)
|
|
|
|
NM_182961.4(SYNE1):c.17943C>T (p.Ala5981=)
|
|
|
|
NM_182961.4(SYNE1):c.1794A>G (p.Ser598=)
|
rs141424852
|
|
|
NM_182961.4(SYNE1):c.17956C>A (p.Leu5986Ile)
|
|
|
|
NM_182961.4(SYNE1):c.17959A>G (p.Ser5987Gly)
|
|
|
|
NM_182961.4(SYNE1):c.17964G>A (p.Glu5988=)
|
rs1589457034
|
|
|
NM_182961.4(SYNE1):c.17967C>A (p.Ser5989Arg)
|
rs2153782971
|
|
|
NM_182961.4(SYNE1):c.17990A>G (p.Glu5997Gly)
|
rs1554363340
|
|
|
NM_182961.4(SYNE1):c.18004G>A (p.Glu6002Lys)
|
rs1589456322
|
|
|
NM_182961.4(SYNE1):c.18007C>T (p.His6003Tyr)
|
|
|
|
NM_182961.4(SYNE1):c.18012+12del
|
|
|
|
NM_182961.4(SYNE1):c.18013-3C>T
|
rs2153732604
|
|
|
NM_182961.4(SYNE1):c.18016T>C (p.Leu6006=)
|
rs1589316417
|
|
|
NM_182961.4(SYNE1):c.18039C>G (p.Leu6013=)
|
|
|
|
NM_182961.4(SYNE1):c.18052A>G (p.Asn6018Asp)
|
|
|
|
NM_182961.4(SYNE1):c.18073G>T (p.Ala6025Ser)
|
|
|
|
NM_182961.4(SYNE1):c.18078G>A (p.Glu6026=)
|
|
|
|
NM_182961.4(SYNE1):c.18080A>G (p.Glu6027Gly)
|
rs780920250
|
|
|
NM_182961.4(SYNE1):c.180T>A (p.Gly60=)
|
rs761395846
|
|
|
NM_182961.4(SYNE1):c.180T>C (p.Gly60=)
|
rs761395846
|
|
|
NM_182961.4(SYNE1):c.180T>G (p.Gly60=)
|
rs761395846
|
|
|
NM_182961.4(SYNE1):c.18106G>C (p.Asp6036His)
|
rs147615757
|
|
|
NM_182961.4(SYNE1):c.18141_18144del (p.Thr6048fs)
|
rs2153732048
|
|
|
NM_182961.4(SYNE1):c.18147C>T (p.Val6049=)
|
|
|
|
NM_182961.4(SYNE1):c.18153C>T (p.Ala6051=)
|
rs201090220
|
|
|
NM_182961.4(SYNE1):c.18161T>C (p.Met6054Thr)
|
rs2153731962
|
|
|
NM_182961.4(SYNE1):c.18186G>C (p.Ser6062=)
|
rs1057523204
|
|
|
NM_182961.4(SYNE1):c.18202T>C (p.Leu6068=)
|
rs995318683
|
|
|
NM_182961.4(SYNE1):c.18207+13T>G
|
|
|
|
NM_182961.4(SYNE1):c.18208-1G>A
|
rs2153725036
|
|
|
NM_182961.4(SYNE1):c.18208-26_18208-12del
|
|
|
|
NM_182961.4(SYNE1):c.18208-4A>G
|
rs1246664941
|
|
|
NM_182961.4(SYNE1):c.18208G>A (p.Glu6070Lys)
|
rs886043015
|
|
|
NM_182961.4(SYNE1):c.18240G>A (p.Arg6080=)
|
rs567954466
|
|
|
NM_182961.4(SYNE1):c.18242A>G (p.Gln6081Arg)
|
|
|
|
NM_182961.4(SYNE1):c.18259A>C (p.Arg6087=)
|
rs2153724903
|
|
|
NM_182961.4(SYNE1):c.1825G>A (p.Glu609Lys)
|
rs2154269816
|
|
|
NM_182961.4(SYNE1):c.18276C>T (p.Ala6092=)
|
rs2153724828
|
|
|
NM_182961.4(SYNE1):c.18308A>G (p.Lys6103Arg)
|
|
|
|
NM_182961.4(SYNE1):c.18361_18362delinsAT (p.Ala6121Ile)
|
rs2153724594
|
|
|
NM_182961.4(SYNE1):c.18381+12G>C
|
rs1405193041
|
|
|
NM_182961.4(SYNE1):c.18381+3A>C
|
rs2153724535
|
|
|
NM_182961.4(SYNE1):c.18381+9dup
|
rs1160319452
|
|
|
NM_182961.4(SYNE1):c.18382-19_18382-17dup
|
rs1379525352
|
|
|
NM_182961.4(SYNE1):c.18382-9T>C
|
|
|
|
NM_182961.4(SYNE1):c.18389T>G (p.Leu6130Arg)
|
|
|
|
NM_182961.4(SYNE1):c.18414G>A (p.Val6138=)
|
|
|
|
NM_182961.4(SYNE1):c.18431C>G (p.Ser6144Ter)
|
rs2153709458
|
|
|
NM_182961.4(SYNE1):c.18447C>T (p.Asn6149=)
|
rs374468447
|
|
|
NM_182961.4(SYNE1):c.18459G>A (p.Glu6153=)
|
|
|
|
NM_182961.4(SYNE1):c.18486C>G (p.Ala6162=)
|
rs140168690
|
|
|
NM_182961.4(SYNE1):c.18487G>A (p.Glu6163Lys)
|
|
|
|
NM_182961.4(SYNE1):c.18504G>T (p.Lys6168Asn)
|
|
|
|
NM_182961.4(SYNE1):c.18520G>A (p.Gly6174Arg)
|
|
|
|
NM_182961.4(SYNE1):c.18528G>C (p.Leu6176=)
|
|
|
|
NM_182961.4(SYNE1):c.18565A>G (p.Asn6189Asp)
|
|
|
|
NM_182961.4(SYNE1):c.18570G>A (p.Met6190Ile)
|
rs886044368
|
|
|
NM_182961.4(SYNE1):c.18573+13G>C
|
|
|
|
NM_182961.4(SYNE1):c.18573+16G>A
|
rs368633364
|
|
|
NM_182961.4(SYNE1):c.18574-11G>A
|
rs1477560269
|
|
|
NM_182961.4(SYNE1):c.18574-11G>C
|
|
|
|
NM_182961.4(SYNE1):c.18574-12C>T
|
|
|
|
NM_182961.4(SYNE1):c.18576A>G (p.Gly6192=)
|
rs1267116175
|
|
|
NM_182961.4(SYNE1):c.18588G>A (p.Glu6196=)
|
|
|
|
NM_182961.4(SYNE1):c.18592GAG[1] (p.Glu6199del)
|
rs771543751
|
|
|
NM_182961.4(SYNE1):c.18602A>G (p.Asp6201Gly)
|
rs375829264
|
|
|
NM_182961.4(SYNE1):c.18602A>T (p.Asp6201Val)
|
rs375829264
|
|
|
NM_182961.4(SYNE1):c.18605T>A (p.Val6202Asp)
|
|
|
|
NM_182961.4(SYNE1):c.18633C>G (p.Gly6211=)
|
|
|
|
NM_182961.4(SYNE1):c.18658C>A (p.Arg6220Ser)
|
rs201685248
|
|
|
NM_182961.4(SYNE1):c.18659G>T (p.Arg6220Leu)
|
rs377307244
|
|
|
NM_182961.4(SYNE1):c.1867G>A (p.Ala623Thr)
|
|
|
|
NM_182961.4(SYNE1):c.18680G>A (p.Arg6227Gln)
|
|
|
|
NM_182961.4(SYNE1):c.18680G>T (p.Arg6227Leu)
|
rs778929049
|
|
|
NM_182961.4(SYNE1):c.18682C>T (p.Gln6228Ter)
|
rs910956017
|
|
|
NM_182961.4(SYNE1):c.18683A>G (p.Gln6228Arg)
|
|
|
|
NM_182961.4(SYNE1):c.186A>G (p.Lys62=)
|
rs768365924
|
|
|
NM_182961.4(SYNE1):c.18705+6G>A
|
rs2153679070
|
|
|
NM_182961.4(SYNE1):c.18705+7T>C
|
rs2153679057
|
|
|
NM_182961.4(SYNE1):c.18706-12T>C
|
|
|
|
NM_182961.4(SYNE1):c.1871G>A (p.Ser624Asn)
|
|
|
|
NM_182961.4(SYNE1):c.18720A>G (p.Glu6240=)
|
|
|
|
NM_182961.4(SYNE1):c.18726C>T (p.Ala6242=)
|
|
|
|
NM_182961.4(SYNE1):c.18737G>A (p.Ser6246Asn)
|
rs2092878526
|
|
|
NM_182961.4(SYNE1):c.18759T>C (p.Ser6253=)
|
rs2153673156
|
|
|
NM_182961.4(SYNE1):c.18789G>T (p.Ser6263=)
|
|
|
|
NM_182961.4(SYNE1):c.18815+8T>C
|
rs2153672915
|
|
|
NM_182961.4(SYNE1):c.18823C>T (p.Pro6275Ser)
|
|
|
|
NM_182961.4(SYNE1):c.18824C>T (p.Pro6275Leu)
|
rs2092093757
|
|
|
NM_182961.4(SYNE1):c.18840G>A (p.Gln6280=)
|
|
|
|
NM_182961.4(SYNE1):c.18844T>C (p.Leu6282=)
|
|
|
|
NM_182961.4(SYNE1):c.18849G>A (p.Gly6283=)
|
rs776505129
|
|
|
NM_182961.4(SYNE1):c.18864A>G (p.Lys6288=)
|
|
|
|
NM_182961.4(SYNE1):c.18876A>C (p.Glu6292Asp)
|
rs778537486
|
|
|
NM_182961.4(SYNE1):c.18885G>A (p.Met6295Ile)
|
|
|
|
NM_182961.4(SYNE1):c.1890G>A (p.Glu630=)
|
|
|
|
NM_182961.4(SYNE1):c.1891G>T (p.Asp631Tyr)
|
rs771327791
|
|
|
NM_182961.4(SYNE1):c.18940C>T (p.Gln6314Ter)
|
|
|
|
NM_182961.4(SYNE1):c.18945T>C (p.Asn6315=)
|
|
|
|
NM_182961.4(SYNE1):c.18948dup (p.Leu6317fs)
|
|
|
|
NM_182961.4(SYNE1):c.18964G>C (p.Glu6322Gln)
|
rs376472604
|
|
|
NM_182961.4(SYNE1):c.18972G>C (p.Val6324=)
|
rs1316935433
|
|
|
NM_182961.4(SYNE1):c.18981C>T (p.Ser6327=)
|
|
|
|
NM_182961.4(SYNE1):c.19001C>T (p.Ser6334Phe)
|
|
|
|
NM_182961.4(SYNE1):c.19010C>G (p.Pro6337Arg)
|
rs2090949177
|
|
|
NM_182961.4(SYNE1):c.19051G>A (p.Val6351Ile)
|
rs2090941359
|
|
|
NM_182961.4(SYNE1):c.19071A>T (p.Gly6357=)
|
|
|
|
NM_182961.4(SYNE1):c.19084T>A (p.Phe6362Ile)
|
rs2090937224
|
|
|
NM_182961.4(SYNE1):c.19093G>T (p.Val6365Phe)
|
rs2153628762
|
|
|
NM_182961.4(SYNE1):c.19104+11G>A
|
rs1210886004
|
|
|
NM_182961.4(SYNE1):c.19105-16G>A
|
|
|
|
NM_182961.4(SYNE1):c.19105-19C>T
|
|
|
|
NM_182961.4(SYNE1):c.19114G>A (p.Ala6372Thr)
|
rs769911507
|
|
|
NM_182961.4(SYNE1):c.19114G>T (p.Ala6372Ser)
|
|
|
|
NM_182961.4(SYNE1):c.19117A>G (p.Lys6373Glu)
|
rs1554285472
|
|
|
NM_182961.4(SYNE1):c.19122G>T (p.Arg6374Ser)
|
|
|
|
NM_182961.4(SYNE1):c.19130T>C (p.Ile6377Thr)
|
rs1588858602
|
|
|
NM_182961.4(SYNE1):c.19132C>G (p.His6378Asp)
|
rs781479222
|
|
|
NM_182961.4(SYNE1):c.1913A>G (p.Gln638Arg)
|
rs1554756030
|
|
|
NM_182961.4(SYNE1):c.19141C>A (p.Gln6381Lys)
|
|
|
|
NM_182961.4(SYNE1):c.19155T>C (p.Asp6385=)
|
rs2153623542
|
|
|
NM_182961.4(SYNE1):c.19158A>C (p.Gly6386=)
|
|
|
|
NM_182961.4(SYNE1):c.19163C>T (p.Ser6388Leu)
|
|
|
|
NM_182961.4(SYNE1):c.19166C>G (p.Ala6389Gly)
|
|
|
|
NM_182961.4(SYNE1):c.19170C>G (p.Thr6390=)
|
|
|
|
NM_182961.4(SYNE1):c.19176T>G (p.Thr6392=)
|
rs2153623427
|
|
|
NM_182961.4(SYNE1):c.19182G>A (p.Leu6394=)
|
rs2090636581
|
|
|
NM_182961.4(SYNE1):c.19193A>C (p.Glu6398Ala)
|
|
|
|
NM_182961.4(SYNE1):c.19203A>T (p.Leu6401Phe)
|
rs966960053
|
|
|
NM_182961.4(SYNE1):c.19214C>T (p.Thr6405Ile)
|
rs2153623229
|
|
|
NM_182961.4(SYNE1):c.19218A>C (p.Ala6406=)
|
rs199869602
|
|
|
NM_182961.4(SYNE1):c.19260+10G>A
|
|
|
|
NM_182961.4(SYNE1):c.19260+1G>C
|
|
|
|
NM_182961.4(SYNE1):c.19260+1G>T
|
|
|
|
NM_182961.4(SYNE1):c.19260+20C>T
|
|
|
|
NM_182961.4(SYNE1):c.19260+2T>C
|
rs1588855714
|
|
|
NM_182961.4(SYNE1):c.19260+3A>G
|
|
|
|
NM_182961.4(SYNE1):c.19261-19G>T
|
|
|
|
NM_182961.4(SYNE1):c.19289C>G (p.Ser6430Cys)
|
|
|
|
NM_182961.4(SYNE1):c.19293A>G (p.Glu6431=)
|
|
|
|
NM_182961.4(SYNE1):c.19300G>C (p.Asp6434His)
|
|
|
|
NM_182961.4(SYNE1):c.19305G>C (p.Lys6435Asn)
|
|
|
|
NM_182961.4(SYNE1):c.19306A>T (p.Asn6436Tyr)
|
rs996252466
|
|
|
NM_182961.4(SYNE1):c.19311A>T (p.Lys6437Asn)
|
rs2090468441
|
|
|
NM_182961.4(SYNE1):c.19316T>C (p.Leu6439Ser)
|
|
|
|
NM_182961.4(SYNE1):c.1932+17C>A
|
|
|
|
NM_182961.4(SYNE1):c.1932+19A>G
|
|
|
|
NM_182961.4(SYNE1):c.1932+9G>T
|
rs746181375
|
|
|
NM_182961.4(SYNE1):c.1933-6G>T
|
rs1451399398
|
|
|
NM_182961.4(SYNE1):c.1933-8T>C
|
rs2154267701
|
|
|
NM_182961.4(SYNE1):c.19335A>C (p.Pro6445=)
|
rs749079132
|
|
|
NM_182961.4(SYNE1):c.19345G>T (p.Asp6449Tyr)
|
rs1315831856
|
|
|
NM_182961.4(SYNE1):c.19365A>G (p.Glu6455=)
|
rs886044212
|
|
|
NM_182961.4(SYNE1):c.19373T>C (p.Leu6458Ser)
|
rs2153620062
|
|
|
NM_182961.4(SYNE1):c.19410A>G (p.Ser6470=)
|
|
|
|
NM_182961.4(SYNE1):c.19422A>G (p.Gln6474=)
|
|
|
|
NM_182961.4(SYNE1):c.19423C>T (p.Arg6475Ter)
|
rs1258745040
|
|
|
NM_182961.4(SYNE1):c.1942C>T (p.Arg648Ter)
|
|
|
|
NM_182961.4(SYNE1):c.19433A>G (p.Gln6478Arg)
|
rs2153619732
|
|
|
NM_182961.4(SYNE1):c.19444del (p.Arg6482fs)
|
rs2153619687
|
|
|
NM_182961.4(SYNE1):c.19446A>G (p.Arg6482=)
|
|
|
|
NM_182961.4(SYNE1):c.1945A>G (p.Asn649Asp)
|
|
|
|
NM_182961.4(SYNE1):c.19467C>T (p.Phe6489=)
|
rs919585920
|
|
|
NM_182961.4(SYNE1):c.19470+13T>A
|
|
|
|
NM_182961.4(SYNE1):c.19470+14T>C
|
|
|
|
NM_182961.4(SYNE1):c.19470+14_19470+16del
|
|
|
|
NM_182961.4(SYNE1):c.19471-13C>T
|
rs1161750776
|
|
|
NM_182961.4(SYNE1):c.19488G>A (p.Leu6496=)
|
rs1393141949
|
|
|
NM_182961.4(SYNE1):c.1948T>G (p.Leu650Val)
|
rs2154267666
|
|
|
NM_182961.4(SYNE1):c.19496C>T (p.Ser6499Leu)
|
rs779049973
|
|
|
NM_182961.4(SYNE1):c.194C>T (p.Ala65Val)
|
|
|
|
NM_182961.4(SYNE1):c.19572+15C>T
|
|
|
|
NM_182961.4(SYNE1):c.19577T>C (p.Ile6526Thr)
|
rs2086639076
|
|
|
NM_182961.4(SYNE1):c.19580A>T (p.Gln6527Leu)
|
|
|
|
NM_182961.4(SYNE1):c.19584G>A (p.Gln6528=)
|
|
|
|
NM_182961.4(SYNE1):c.19588G>A (p.Glu6530Lys)
|
rs2086635846
|
|
|
NM_182961.4(SYNE1):c.19624G>A (p.Glu6542Lys)
|
rs1290381941
|
|
|
NM_182961.4(SYNE1):c.19627T>C (p.Leu6543=)
|
|
|
|
NM_182961.4(SYNE1):c.19635G>C (p.Arg6545Ser)
|
rs147143947
|
|
|
NM_182961.4(SYNE1):c.19663C>G (p.Pro6555Ala)
|
|
|
|
NM_182961.4(SYNE1):c.19680C>G (p.Leu6560=)
|
|
|
|
NM_182961.4(SYNE1):c.19686G>A (p.Lys6562=)
|
rs1562462293
|
|
|
NM_182961.4(SYNE1):c.19692+7C>G
|
|
|
|
NM_182961.4(SYNE1):c.19693-19T>C
|
|
|
|
NM_182961.4(SYNE1):c.19693-20T>C
|
rs2153563935
|
|
|
NM_182961.4(SYNE1):c.19720A>G (p.Ile6574Val)
|
|
|
|
NM_182961.4(SYNE1):c.19779G>A (p.Arg6593=)
|
|
|
|
NM_182961.4(SYNE1):c.19787A>G (p.Gln6596Arg)
|
rs2085923878
|
|
|
NM_182961.4(SYNE1):c.19812T>C (p.Thr6604=)
|
|
|
|
NM_182961.4(SYNE1):c.19815T>C (p.Gly6605=)
|
rs776418227
|
|
|
NM_182961.4(SYNE1):c.19826T>C (p.Met6609Thr)
|
rs769943207
|
|
|
NM_182961.4(SYNE1):c.19853C>T (p.Ser6618Phe)
|
|
|
|
NM_182961.4(SYNE1):c.19863G>A (p.Glu6621=)
|
rs2153563113
|
|
|
NM_182961.4(SYNE1):c.1986T>C (p.Asp662=)
|
rs754185293
|
|
|
NM_182961.4(SYNE1):c.19893+18G>T
|
rs1306460593
|
|
|
NM_182961.4(SYNE1):c.19893+5A>G
|
rs374102244
|
|
|
NM_182961.4(SYNE1):c.19893+6T>C
|
rs377413112
|
|
|
NM_182961.4(SYNE1):c.19894-17T>A
|
rs542545053
|
|
|
NM_182961.4(SYNE1):c.19894-17T>C
|
|
|
|
NM_182961.4(SYNE1):c.19894-20T>C
|
|
|
|
NM_182961.4(SYNE1):c.19899C>G (p.Tyr6633Ter)
|
rs1057520134
|
|
|
NM_182961.4(SYNE1):c.19914A>G (p.Glu6638=)
|
|
|
|
NM_182961.4(SYNE1):c.19918C>T (p.His6640Tyr)
|
|
|
|
NM_182961.4(SYNE1):c.19951A>C (p.Ile6651Leu)
|
|
|
|
NM_182961.4(SYNE1):c.19968C>A (p.Val6656=)
|
|
|
|
NM_182961.4(SYNE1):c.19980_19981delinsAA (p.Gln6661Lys)
|
rs2153551621
|
|
|
NM_182961.4(SYNE1):c.19987C>T (p.His6663Tyr)
|
|
|
|
NM_182961.4(SYNE1):c.19996C>T (p.Leu6666=)
|
|
|
|
NM_182961.4(SYNE1):c.20000T>C (p.Met6667Thr)
|
rs2085071185
|
|
|
NM_182961.4(SYNE1):c.20002G>T (p.Ala6668Ser)
|
rs770873356
|
|
|
NM_182961.4(SYNE1):c.20006dup (p.Ala6670fs)
|
rs1385280819
|
|
|
NM_182961.4(SYNE1):c.20008G>A (p.Ala6670Thr)
|
|
|
|
NM_182961.4(SYNE1):c.20017G>T (p.Val6673Leu)
|
rs578055399
|
|
|
NM_182961.4(SYNE1):c.20029G>T (p.Ala6677Ser)
|
rs1376604930
|
|
|
NM_182961.4(SYNE1):c.20067+18A>C
|
rs186247729
|
|
|
NM_182961.4(SYNE1):c.20067+18A>G
|
|
|
|
NM_182961.4(SYNE1):c.20067+18A>T
|
|
|
|
NM_182961.4(SYNE1):c.20068-13G>A
|
|
|
|
NM_182961.4(SYNE1):c.20070G>A (p.Thr6690=)
|
rs141263831
|
|
|
NM_182961.4(SYNE1):c.20072G>A (p.Trp6691Ter)
|
rs766499430
|
|
|
NM_182961.4(SYNE1):c.20082G>A (p.Leu6694=)
|
|
|
|
NM_182961.4(SYNE1):c.20104A>G (p.Ser6702Gly)
|
rs2084228622
|
|
|
NM_182961.4(SYNE1):c.20111A>T (p.Gln6704Leu)
|
rs1189558235
|
|
|
NM_182961.4(SYNE1):c.20122G>C (p.Val6708Leu)
|
rs765132195
|
|
|
NM_182961.4(SYNE1):c.20157G>C (p.Glu6719Asp)
|
rs769305344
|
|
|
NM_182961.4(SYNE1):c.20162A>G (p.Asn6721Ser)
|
|
|
|
NM_182961.4(SYNE1):c.20178T>A (p.Ile6726=)
|
rs1588441873
|
|
|
NM_182961.4(SYNE1):c.20179del (p.Asp6727fs)
|
rs2153537904
|
|
|
NM_182961.4(SYNE1):c.20190A>G (p.Thr6730=)
|
rs1244012304
|
|
|
NM_182961.4(SYNE1):c.20196C>G (p.Tyr6732Ter)
|
|
|
|
NM_182961.4(SYNE1):c.20200-8T>C
|
|
|
|
NM_182961.4(SYNE1):c.20208A>G (p.Lys6736=)
|
rs1020385567
|
|
|
NM_182961.4(SYNE1):c.20230C>T (p.Pro6744Ser)
|
|
|
|
NM_182961.4(SYNE1):c.20296G>T (p.Glu6766Ter)
|
|
|
|
NM_182961.4(SYNE1):c.20315T>G (p.Leu6772Arg)
|
|
|
|
NM_182961.4(SYNE1):c.20362C>A (p.His6788Asn)
|
rs949257779
|
|
|
NM_182961.4(SYNE1):c.20364C>A (p.His6788Gln)
|
|
|
|
NM_182961.4(SYNE1):c.2037G>A (p.Leu679=)
|
rs1593222147
|
|
|
NM_182961.4(SYNE1):c.20395A>G (p.Arg6799Gly)
|
rs2153534806
|
|
|
NM_182961.4(SYNE1):c.20396+18T>C
|
rs2153534765
|
|
|
NM_182961.4(SYNE1):c.20397-11A>G
|
|
|
|
NM_182961.4(SYNE1):c.20397-16A>G
|
|
|
|
NM_182961.4(SYNE1):c.20401C>G (p.Gln6801Glu)
|
|
|
|
NM_182961.4(SYNE1):c.20419C>G (p.Leu6807Val)
|
rs2083603543
|
|
|
NM_182961.4(SYNE1):c.20419C>T (p.Leu6807=)
|
|
|
|
NM_182961.4(SYNE1):c.20441C>T (p.Ala6814Val)
|
rs1562385964
|
|
|
NM_182961.4(SYNE1):c.20450G>A (p.Arg6817Gln)
|
|
|
|
NM_182961.4(SYNE1):c.20460T>C (p.Phe6820=)
|
|
|
|
NM_182961.4(SYNE1):c.20506C>T (p.Arg6836Cys)
|
|
|
|
NM_182961.4(SYNE1):c.20507G>A (p.Arg6836His)
|
|
|
|
NM_182961.4(SYNE1):c.20514T>C (p.His6838=)
|
rs2153528771
|
|
|
NM_182961.4(SYNE1):c.20529+7C>A
|
|
|
|
NM_182961.4(SYNE1):c.20530-16T>A
|
rs2083385032
|
|
|
NM_182961.4(SYNE1):c.20530-19A>G
|
|
|
|
NM_182961.4(SYNE1):c.20530-9T>A
|
rs2153525429
|
|
|
NM_182961.4(SYNE1):c.20580G>A (p.Leu6860=)
|
rs188203038
|
|
|
NM_182961.4(SYNE1):c.20580G>C (p.Leu6860=)
|
|
|
|
NM_182961.4(SYNE1):c.20586T>C (p.Thr6862=)
|
rs2083373670
|
|
|
NM_182961.4(SYNE1):c.20614G>T (p.Val6872Leu)
|
|
|
|
NM_182961.4(SYNE1):c.20619C>T (p.Asp6873=)
|
|
|
|
NM_182961.4(SYNE1):c.20629C>T (p.Leu6877=)
|
|
|
|
NM_182961.4(SYNE1):c.20636C>T (p.Ser6879Phe)
|
rs769820392
|
|
|
NM_182961.4(SYNE1):c.20645C>G (p.Ser6882Trp)
|
|
|
|
NM_182961.4(SYNE1):c.20648G>A (p.Arg6883His)
|
rs758105121
|
|
|
NM_182961.4(SYNE1):c.20648G>T (p.Arg6883Leu)
|
|
|
|
NM_182961.4(SYNE1):c.20666C>G (p.Thr6889Ser)
|
rs2083351978
|
|
|
NM_182961.4(SYNE1):c.2067G>A (p.Arg689=)
|
rs2154267528
|
|
|
NM_182961.4(SYNE1):c.20687C>T (p.Pro6896Leu)
|
|
|
|
NM_182961.4(SYNE1):c.20690C>T (p.Ala6897Val)
|
rs369855513
|
|
|
NM_182961.4(SYNE1):c.20692G>T (p.Val6898Phe)
|
|
|
|
NM_182961.4(SYNE1):c.20712G>T (p.Gln6904His)
|
|
|
|
NM_182961.4(SYNE1):c.20746A>G (p.Ile6916Val)
|
|
|
|
NM_182961.4(SYNE1):c.20757C>T (p.Val6919=)
|
|
|
|
NM_182961.4(SYNE1):c.20773C>G (p.Leu6925Val)
|
|
|
|
NM_182961.4(SYNE1):c.20795A>C (p.Lys6932Thr)
|
|
|
|
NM_182961.4(SYNE1):c.20796G>A (p.Lys6932=)
|
|
|
|
NM_182961.4(SYNE1):c.20817T>A (p.Asn6939Lys)
|
|
|
|
NM_182961.4(SYNE1):c.20818T>G (p.Ser6940Ala)
|
|
|
|
NM_182961.4(SYNE1):c.20829C>T (p.Tyr6943=)
|
rs1327298373
|
|
|
NM_182961.4(SYNE1):c.20843A>G (p.Glu6948Gly)
|
rs886044105
|
|
|
NM_182961.4(SYNE1):c.20851C>G (p.Gln6951Glu)
|
rs2153517122
|
|
|
NM_182961.4(SYNE1):c.20862+5T>A
|
|
|
|
NM_182961.4(SYNE1):c.20863-12dup
|
|
|
|
NM_182961.4(SYNE1):c.20863-3dup
|
rs755011653
|
|
|
NM_182961.4(SYNE1):c.20863-7T>G
|
|
|
|
NM_182961.4(SYNE1):c.20900T>C (p.Val6967Ala)
|
|
|
|
NM_182961.4(SYNE1):c.20919C>T (p.Ser6973=)
|
|
|
|
NM_182961.4(SYNE1):c.20928A>C (p.Gln6976His)
|
rs763904392
|
|
|
NM_182961.4(SYNE1):c.20941G>T (p.Asp6981Tyr)
|
|
|
|
NM_182961.4(SYNE1):c.20956C>T (p.Arg6986Cys)
|
|
|
|
NM_182961.4(SYNE1):c.20961T>C (p.Ser6987=)
|
|
|
|
NM_182961.4(SYNE1):c.2097+20A>C
|
rs201761319
|
|
|
NM_182961.4(SYNE1):c.2097+20A>G
|
|
|
|
NM_182961.4(SYNE1):c.20975T>A (p.Phe6992Tyr)
|
rs2082727720
|
|
|
NM_182961.4(SYNE1):c.20985A>G (p.Gln6995=)
|
|
|
|
NM_182961.4(SYNE1):c.21005_21006delinsAG (p.Ser7002Lys)
|
|
|
|
NM_182961.4(SYNE1):c.21007T>A (p.Trp7003Arg)
|
rs2082723314
|
|
|
NM_182961.4(SYNE1):c.21007T>C (p.Trp7003Arg)
|
rs2082723314
|
|
|
NM_182961.4(SYNE1):c.21011A>G (p.Gln7004Arg)
|
|
|
|
NM_182961.4(SYNE1):c.21039+12G>A
|
|
|
|
NM_182961.4(SYNE1):c.21039+17C>T
|
|
|
|
NM_182961.4(SYNE1):c.21039+8A>G
|
|
|
|
NM_182961.4(SYNE1):c.21040-6G>A
|
|
|
|
NM_182961.4(SYNE1):c.21040A>C (p.Ile7014Leu)
|
|
|
|
NM_182961.4(SYNE1):c.21042C>A (p.Ile7014=)
|
|
|
|
NM_182961.4(SYNE1):c.21058T>G (p.Leu7020Val)
|
|
|
|
NM_182961.4(SYNE1):c.21069T>A (p.Ser7023=)
|
|
|
|
NM_182961.4(SYNE1):c.21072G>A (p.Trp7024Ter)
|
|
|
|
NM_182961.4(SYNE1):c.21090T>G (p.Asn7030Lys)
|
rs758318901
|
|
|
NM_182961.4(SYNE1):c.21113T>C (p.Phe7038Ser)
|
rs2153509730
|
|
|
NM_182961.4(SYNE1):c.21131G>A (p.Arg7044Lys)
|
|
|
|
NM_182961.4(SYNE1):c.21141A>G (p.Gln7047=)
|
|
|
|
NM_182961.4(SYNE1):c.2116A>T (p.Met706Leu)
|
rs2098742431
|
|
|
NM_182961.4(SYNE1):c.21179C>T (p.Ala7060Val)
|
|
|
|
NM_182961.4(SYNE1):c.21181C>T (p.Leu7061=)
|
|
|
|
NM_182961.4(SYNE1):c.21184A>C (p.Lys7062Gln)
|
rs771203839
|
|
|
NM_182961.4(SYNE1):c.21187G>C (p.Asp7063His)
|
rs1267961945
|
|
|
NM_182961.4(SYNE1):c.21193C>G (p.Gln7065Glu)
|
rs2153509038
|
|
|
NM_182961.4(SYNE1):c.21195+17G>A
|
|
|
|
NM_182961.4(SYNE1):c.21221A>G (p.Lys7074Arg)
|
rs749981989
|
|
|
NM_182961.4(SYNE1):c.21235G>C (p.Glu7079Gln)
|
rs2081454702
|
|
|
NM_182961.4(SYNE1):c.2123G>A (p.Arg708Lys)
|
|
|
|
NM_182961.4(SYNE1):c.21251A>G (p.Asn7084Ser)
|
|
|
|
NM_182961.4(SYNE1):c.21259G>T (p.Ala7087Ser)
|
rs1321824454
|
|
|
NM_182961.4(SYNE1):c.21271A>T (p.Asn7091Tyr)
|
rs777618601
|
|
|
NM_182961.4(SYNE1):c.21317A>T (p.Glu7106Val)
|
rs2153485074
|
|
|
NM_182961.4(SYNE1):c.21351+4A>G
|
rs2081431126
|
|
|
NM_182961.4(SYNE1):c.21352-20A>G
|
|
|
|
NM_182961.4(SYNE1):c.21352-7T>G
|
rs756684680
|
|
|
NM_182961.4(SYNE1):c.21370C>G (p.Leu7124Val)
|
|
|
|
NM_182961.4(SYNE1):c.21405C>T (p.His7135=)
|
rs2153478766
|
|
|
NM_182961.4(SYNE1):c.21414C>G (p.Ala7138=)
|
rs144904215
|
|
|
NM_182961.4(SYNE1):c.21426A>G (p.Ile7142Met)
|
rs775691059
|
|
|
NM_182961.4(SYNE1):c.21436C>T (p.Leu7146Phe)
|
rs776459203
|
|
|
NM_182961.4(SYNE1):c.21445G>A (p.Ala7149Thr)
|
|
|
|
NM_182961.4(SYNE1):c.21447C>T (p.Ala7149=)
|
|
|
|
NM_182961.4(SYNE1):c.21453C>T (p.Tyr7151=)
|
|
|
|
NM_182961.4(SYNE1):c.21464G>A (p.Arg7155Gln)
|
|
|
|
NM_182961.4(SYNE1):c.21468C>G (p.Phe7156Leu)
|
|
|
|
NM_182961.4(SYNE1):c.2147G>A (p.Cys716Tyr)
|
rs369355230
|
|
|
NM_182961.4(SYNE1):c.21522+14T>C
|
|
|
|
NM_182961.4(SYNE1):c.21522+18C>T
|
rs1588175016
|
|
|
NM_182961.4(SYNE1):c.21522+6del
|
|
|
|
NM_182961.4(SYNE1):c.21523-11T>C
|
|
|
|
NM_182961.4(SYNE1):c.21523-6G>C
|
rs774046000
|
|
|
NM_182961.4(SYNE1):c.21523-8del
|
|
|
|
NM_182961.4(SYNE1):c.21523-8dup
|
rs761577958
|
|
|
NM_182961.4(SYNE1):c.21586C>A (p.Gln7196Lys)
|
rs780059512
|
|
|
NM_182961.4(SYNE1):c.21594A>G (p.Leu7198=)
|
|
|
|
NM_182961.4(SYNE1):c.21602G>A (p.Cys7201Tyr)
|
rs794727041
|
|
|
NM_182961.4(SYNE1):c.21685G>A (p.Glu7229Lys)
|
|
|
|
NM_182961.4(SYNE1):c.21694C>G (p.Gln7232Glu)
|
|
|
|
NM_182961.4(SYNE1):c.21711A>G (p.Leu7237=)
|
|
|
|
NM_182961.4(SYNE1):c.21717G>A (p.Gln7239=)
|
|
|
|
NM_182961.4(SYNE1):c.21781C>T (p.Arg7261Ter)
|
rs138032057
|
|
|
NM_182961.4(SYNE1):c.21793C>T (p.Leu7265=)
|
rs2153463509
|
|
|
NM_182961.4(SYNE1):c.21819del (p.Asp7273fs)
|
|
|
|
NM_182961.4(SYNE1):c.2181C>G (p.Ala727=)
|
rs1593209190
|
|
|
NM_182961.4(SYNE1):c.21820A>T (p.Ile7274Phe)
|
rs775870306
|
|
|
NM_182961.4(SYNE1):c.21826G>A (p.Asp7276Asn)
|
|
|
|
NM_182961.4(SYNE1):c.21832G>A (p.Glu7278Lys)
|
|
|
|
NM_182961.4(SYNE1):c.2186A>G (p.Lys729Arg)
|
rs2098742034
|
|
|
NM_182961.4(SYNE1):c.21879G>A (p.Leu7293=)
|
rs749164483
|
|
|
NM_182961.4(SYNE1):c.21881G>A (p.Gly7294Asp)
|
rs1377401737
|
|
|
NM_182961.4(SYNE1):c.218A>C (p.Gln73Pro)
|
rs2154353751
|
|
|
NM_182961.4(SYNE1):c.21909C>G (p.Leu7303=)
|
|
|
|
NM_182961.4(SYNE1):c.21911A>G (p.His7304Arg)
|
rs557878312
|
|
|
NM_182961.4(SYNE1):c.21936A>T (p.Gln7312His)
|
rs968163245
|
|
|
NM_182961.4(SYNE1):c.21961G>A (p.Ala7321Thr)
|
|
|
|
NM_182961.4(SYNE1):c.21972G>A (p.Ser7324=)
|
|
|
|
NM_182961.4(SYNE1):c.21977A>T (p.Gln7326Leu)
|
|
|
|
NM_182961.4(SYNE1):c.21978A>C (p.Gln7326His)
|
|
|
|
NM_182961.4(SYNE1):c.21981C>G (p.Leu7327=)
|
rs148868250
|
|
|
NM_182961.4(SYNE1):c.21981C>T (p.Leu7327=)
|
rs148868250
|
|
|
NM_182961.4(SYNE1):c.21984T>A (p.Ser7328=)
|
rs779374633
|
|
|
NM_182961.4(SYNE1):c.21986T>C (p.Leu7329Ser)
|
rs2079440770
|
|
|
NM_182961.4(SYNE1):c.21989G>T (p.Ser7330Ile)
|
rs1588081530
|
|
|
NM_182961.4(SYNE1):c.22009G>C (p.Glu7337Gln)
|
|
|
|
NM_182961.4(SYNE1):c.22023C>T (p.Cys7341=)
|
|
|
|
NM_182961.4(SYNE1):c.22042C>G (p.Gln7348Glu)
|
rs2079430530
|
|
|
NM_182961.4(SYNE1):c.22043A>G (p.Gln7348Arg)
|
|
|
|
NM_182961.4(SYNE1):c.22044+14A>G
|
|
|
|
NM_182961.4(SYNE1):c.22044+8G>T
|
|
|
|
NM_182961.4(SYNE1):c.22045-11T>C
|
|
|
|
NM_182961.4(SYNE1):c.2204T>C (p.Leu735Ser)
|
|
|
|
NM_182961.4(SYNE1):c.22054C>A (p.Leu7352Ile)
|
rs1199232781
|
|
|
NM_182961.4(SYNE1):c.22060T>C (p.Tyr7354His)
|
rs944485518
|
|
|
NM_182961.4(SYNE1):c.22066A>G (p.Thr7356Ala)
|
|
|
|
NM_182961.4(SYNE1):c.22073C>T (p.Ala7358Val)
|
|
|
|
NM_182961.4(SYNE1):c.2209G>A (p.Val737Ile)
|
rs2154266865
|
|
|
NM_182961.4(SYNE1):c.2209G>T (p.Val737Phe)
|
|
|
|
NM_182961.4(SYNE1):c.22106T>C (p.Val7369Ala)
|
|
|
|
NM_182961.4(SYNE1):c.22118A>T (p.Glu7373Val)
|
rs1588067419
|
|
|
NM_182961.4(SYNE1):c.22131G>A (p.Gly7377=)
|
rs1419205712
|
|
|
NM_182961.4(SYNE1):c.22135G>A (p.Asp7379Asn)
|
|
|
|
NM_182961.4(SYNE1):c.2214T>C (p.Ser738=)
|
|
|
|
NM_182961.4(SYNE1):c.22153G>A (p.Asp7385Asn)
|
rs886043280
|
|
|
NM_182961.4(SYNE1):c.22154A>T (p.Asp7385Val)
|
rs2153454164
|
|
|
NM_182961.4(SYNE1):c.22191+20A>T
|
|
|
|
NM_182961.4(SYNE1):c.22191+4A>G
|
rs2153454005
|
|
|
NM_182961.4(SYNE1):c.22191+7G>T
|
|
|
|
NM_182961.4(SYNE1):c.22192-14A>G
|
|
|
|
NM_182961.4(SYNE1):c.22194A>T (p.Gly7398=)
|
|
|
|
NM_182961.4(SYNE1):c.22200G>A (p.Met7400Ile)
|
|
|
|
NM_182961.4(SYNE1):c.22214G>T (p.Ser7405Ile)
|
rs778036632
|
|
|
NM_182961.4(SYNE1):c.22215C>T (p.Ser7405=)
|
rs560939744
|
|
|
NM_182961.4(SYNE1):c.22227T>C (p.Asp7409=)
|
|
|
|
NM_182961.4(SYNE1):c.22241A>G (p.Asn7414Ser)
|
rs760439015
|
|
|
NM_182961.4(SYNE1):c.22245G>T (p.Glu7415Asp)
|
rs767375107
|
|
|
NM_182961.4(SYNE1):c.22253A>G (p.Tyr7418Cys)
|
rs554483231
|
|
|
NM_182961.4(SYNE1):c.2230C>T (p.Leu744=)
|
|
|
|
NM_182961.4(SYNE1):c.22320CTC[1] (p.Ser7442del)
|
rs756712103
|
|
|
NM_182961.4(SYNE1):c.22346+12A>C
|
|
|
|
NM_182961.4(SYNE1):c.22346+6G>A
|
|
|
|
NM_182961.4(SYNE1):c.22347-13T>C
|
|
|
|
NM_182961.4(SYNE1):c.22347-20C>T
|
|
|
|
NM_182961.4(SYNE1):c.22347-9T>A
|
rs535951024
|
|
|
NM_182961.4(SYNE1):c.22356G>A (p.Gln7452=)
|
|
|
|
NM_182961.4(SYNE1):c.22362T>A (p.Phe7454Leu)
|
rs371289584
|
|
|
NM_182961.4(SYNE1):c.22377G>T (p.Gln7459His)
|
|
|
|
NM_182961.4(SYNE1):c.22433A>C (p.Lys7478Thr)
|
|
|
|
NM_182961.4(SYNE1):c.22445A>G (p.Glu7482Gly)
|
rs1587952687
|
|
|
NM_182961.4(SYNE1):c.22476A>G (p.Glu7492=)
|
|
|
|
NM_182961.4(SYNE1):c.22479G>T (p.Gln7493His)
|
|
|
|
NM_182961.4(SYNE1):c.22485A>G (p.Arg7495=)
|
|
|
|
NM_182961.4(SYNE1):c.22491C>G (p.His7497Gln)
|
|
|
|
NM_182961.4(SYNE1):c.22494+4A>G
|
|
|
|
NM_182961.4(SYNE1):c.22494G>A (p.Glu7498=)
|
|
|
|
NM_182961.4(SYNE1):c.22495-10dup
|
rs767966157
|
|
|
NM_182961.4(SYNE1):c.22495-18_22495-16del
|
rs1438172102
|
|
|
NM_182961.4(SYNE1):c.225+14dup
|
|
|
|
NM_182961.4(SYNE1):c.225+16T>C
|
|
|
|
NM_182961.4(SYNE1):c.225+16T>G
|
|
|
|
NM_182961.4(SYNE1):c.225+1del
|
rs2154353746
|
|
|
NM_182961.4(SYNE1):c.225+5G>C
|
rs1594697066
|
|
|
NM_182961.4(SYNE1):c.2250+14G>T
|
|
|
|
NM_182961.4(SYNE1):c.2250+8del
|
|
|
|
NM_182961.4(SYNE1):c.22503A>G (p.Gln7501=)
|
|
|
|
NM_182961.4(SYNE1):c.2251-15C>T
|
rs758553708
|
|
|
NM_182961.4(SYNE1):c.22515C>T (p.Phe7505=)
|
|
|
|
NM_182961.4(SYNE1):c.22536C>T (p.His7512=)
|
|
|
|
NM_182961.4(SYNE1):c.22546A>G (p.Ile7516Val)
|
rs963496863
|
|
|
NM_182961.4(SYNE1):c.22561C>A (p.Leu7521Ile)
|
|
|
|
NM_182961.4(SYNE1):c.22579G>A (p.Val7527Ile)
|
rs1554568810
|
|
|
NM_182961.4(SYNE1):c.22582G>A (p.Asp7528Asn)
|
|
|
|
NM_182961.4(SYNE1):c.22589+4G>A
|
|
|
|
NM_182961.4(SYNE1):c.22589+4G>T
|
rs563408259
|
|
|
NM_182961.4(SYNE1):c.22590-1G>A
|
rs2153409815
|
|
|
NM_182961.4(SYNE1):c.22590-3T>C
|
rs1400330082
|
|
|
NM_182961.4(SYNE1):c.22590-5A>G
|
|
|
|
NM_182961.4(SYNE1):c.22592A>T (p.Asp7531Val)
|
rs2153409793
|
|
|
NM_182961.4(SYNE1):c.226-12C>T
|
|
|
|
NM_182961.4(SYNE1):c.22664G>A (p.Arg7555Gln)
|
|
|
|
NM_182961.4(SYNE1):c.22669A>T (p.Ile7557Phe)
|
rs760818352
|
|
|
NM_182961.4(SYNE1):c.22673T>C (p.Ile7558Thr)
|
|
|
|
NM_182961.4(SYNE1):c.22688G>A (p.Arg7563His)
|
rs768489386
|
|
|
NM_182961.4(SYNE1):c.226C>G (p.Pro76Ala)
|
rs775028308
|
|
|
NM_182961.4(SYNE1):c.22726C>T (p.Arg7576Cys)
|
|
|
|
NM_182961.4(SYNE1):c.22727G>A (p.Arg7576His)
|
|
|
|
NM_182961.4(SYNE1):c.22749C>G (p.Ser7583=)
|
|
|
|
NM_182961.4(SYNE1):c.22764T>C (p.Ser7588=)
|
rs2153408930
|
|
|
NM_182961.4(SYNE1):c.22777G>T (p.Val7593Phe)
|
rs2076839550
|
|
|
NM_182961.4(SYNE1):c.22790T>G (p.Leu7597Arg)
|
rs2153408771
|
|
|
NM_182961.4(SYNE1):c.22792C>G (p.Gln7598Glu)
|
|
|
|
NM_182961.4(SYNE1):c.22806C>T (p.Thr7602=)
|
|
|
|
NM_182961.4(SYNE1):c.22814A>G (p.Asp7605Gly)
|
rs2153408610
|
|
|
NM_182961.4(SYNE1):c.22824+13_22824+15del
|
|
|
|
NM_182961.4(SYNE1):c.22824+2T>A
|
|
|
|
NM_182961.4(SYNE1):c.22824+9C>T
|
|
|
|
NM_182961.4(SYNE1):c.22825-3C>A
|
rs2153398590
|
|
|
NM_182961.4(SYNE1):c.22836A>G (p.Lys7612=)
|
|
|
|
NM_182961.4(SYNE1):c.22839G>A (p.Val7613=)
|
rs1048202250
|
|
|
NM_182961.4(SYNE1):c.22842T>C (p.Phe7614=)
|
rs2076502631
|
|
|
NM_182961.4(SYNE1):c.22856G>A (p.Gly7619Asp)
|
rs2153398375
|
|
|
NM_182961.4(SYNE1):c.22863C>T (p.Tyr7621=)
|
|
|
|
NM_182961.4(SYNE1):c.22872T>C (p.Thr7624=)
|
|
|
|
NM_182961.4(SYNE1):c.22874T>G (p.Val7625Gly)
|
|
|
|
NM_182961.4(SYNE1):c.22878G>A (p.Glu7626=)
|
|
|
|
NM_182961.4(SYNE1):c.22879G>T (p.Ala7627Ser)
|
rs2153398279
|
|
|
NM_182961.4(SYNE1):c.22896_22898del (p.Leu7633del)
|
rs1360697609
|
|
|
NM_182961.4(SYNE1):c.22904C>T (p.Ala7635Val)
|
rs555792275
|
|
|
NM_182961.4(SYNE1):c.22924G>A (p.Ala7642Thr)
|
rs776115026
|
|
|
NM_182961.4(SYNE1):c.22927T>G (p.Leu7643Val)
|
|
|
|
NM_182961.4(SYNE1):c.22936G>A (p.Glu7646Lys)
|
|
|
|
NM_182961.4(SYNE1):c.22952A>G (p.Gln7651Arg)
|
rs993798442
|
|
|
NM_182961.4(SYNE1):c.2296A>G (p.Ile766Val)
|
|
|
|
NM_182961.4(SYNE1):c.23007C>T (p.Ala7669=)
|
|
|
|
NM_182961.4(SYNE1):c.23020-7A>G
|
|
|
|
NM_182961.4(SYNE1):c.23047G>A (p.Ala7683Thr)
|
rs1161832578
|
|
|
NM_182961.4(SYNE1):c.23052T>G (p.Asp7684Glu)
|
rs1201437684
|
|
|
NM_182961.4(SYNE1):c.23059G>C (p.Glu7687Gln)
|
rs768705708
|
|
|
NM_182961.4(SYNE1):c.23076C>T (p.Phe7692=)
|
|
|
|
NM_182961.4(SYNE1):c.2308G>A (p.Ala770Thr)
|
rs767407271
|
|
|
NM_182961.4(SYNE1):c.23091G>A (p.Ser7697=)
|
|
|
|
NM_182961.4(SYNE1):c.23093A>G (p.Gln7698Arg)
|
rs1452755990
|
|
|
NM_182961.4(SYNE1):c.23131C>A (p.Gln7711Lys)
|
|
|
|
NM_182961.4(SYNE1):c.23139T>C (p.Arg7713=)
|
rs899533876
|
|
|
NM_182961.4(SYNE1):c.23145+10T>C
|
|
|
|
NM_182961.4(SYNE1):c.23146-10T>C
|
rs2153229720
|
|
|
NM_182961.4(SYNE1):c.23146-7T>C
|
|
|
|
NM_182961.4(SYNE1):c.23146-7del
|
rs770820426
|
|
|
NM_182961.4(SYNE1):c.23146-9T>C
|
|
|
|
NM_182961.4(SYNE1):c.23170T>C (p.Trp7724Arg)
|
|
|
|
NM_182961.4(SYNE1):c.23196C>G (p.Ser7732Arg)
|
rs1554518143
|
|
|
NM_182961.4(SYNE1):c.23211C>T (p.Thr7737=)
|
|
|
|
NM_182961.4(SYNE1):c.23214C>A (p.Leu7738=)
|
rs543882781
|
|
|
NM_182961.4(SYNE1):c.23222A>C (p.Tyr7741Ser)
|
|
|
|
NM_182961.4(SYNE1):c.23222A>T (p.Tyr7741Phe)
|
|
|
|
NM_182961.4(SYNE1):c.23234A>G (p.Asp7745Gly)
|
|
|
|
NM_182961.4(SYNE1):c.23242T>A (p.Ser7748Thr)
|
rs2153229567
|
|
|
NM_182961.4(SYNE1):c.23245A>G (p.Ile7749Val)
|
|
|
|
NM_182961.4(SYNE1):c.23257C>T (p.Arg7753Cys)
|
rs138747167
|
|
|
NM_182961.4(SYNE1):c.23296C>T (p.His7766Tyr)
|
rs886043037
|
|
|
NM_182961.4(SYNE1):c.23301+13C>A
|
|
|
|
NM_182961.4(SYNE1):c.23301+13C>T
|
|
|
|
NM_182961.4(SYNE1):c.23301+20T>A
|
rs2153229361
|
|
|
NM_182961.4(SYNE1):c.23302-18C>T
|
rs2153180743
|
|
|
NM_182961.4(SYNE1):c.23302-4T>C
|
|
|
|
NM_182961.4(SYNE1):c.23302-5T>C
|
|
|
|
NM_182961.4(SYNE1):c.2330_2353dup (p.Glu784_Met785insSerProGlnGluGluGlyLysGlu)
|
|
|
|
NM_182961.4(SYNE1):c.23327G>A (p.Gly7776Asp)
|
|
|
|
NM_182961.4(SYNE1):c.23335T>G (p.Leu7779Val)
|
rs200800604
|
|
|
NM_182961.4(SYNE1):c.23367C>T (p.Asn7789=)
|
|
|
|
NM_182961.4(SYNE1):c.23374C>T (p.Leu7792Phe)
|
|
|
|
NM_182961.4(SYNE1):c.23378G>T (p.Cys7793Phe)
|
|
|
|
NM_182961.4(SYNE1):c.23407G>A (p.Val7803Ile)
|
|
|
|
NM_182961.4(SYNE1):c.23419G>A (p.Gly7807Arg)
|
rs2067600593
|
|
|
NM_182961.4(SYNE1):c.23460+10G>T
|
rs376484866
|
|
|
NM_182961.4(SYNE1):c.23460+11C>G
|
|
|
|
NM_182961.4(SYNE1):c.23461-11T>G
|
|
|
|
NM_182961.4(SYNE1):c.23470G>A (p.Glu7824Lys)
|
|
|
|
NM_182961.4(SYNE1):c.23548A>T (p.Ser7850Cys)
|
rs2066481563
|
|
|
NM_182961.4(SYNE1):c.23550C>T (p.Ser7850=)
|
|
|
|
NM_182961.4(SYNE1):c.23562G>T (p.Glu7854Asp)
|
rs894257787
|
|
|
NM_182961.4(SYNE1):c.23577G>A (p.Leu7859=)
|
rs2153132926
|
|
|
NM_182961.4(SYNE1):c.2359G>A (p.Ala787Thr)
|
|
|
|
NM_182961.4(SYNE1):c.2359_2360delinsAA (p.Ala787Lys)
|
rs1593187196
|
|
|
NM_182961.4(SYNE1):c.2360C>T (p.Ala787Val)
|
rs147406318
|
|
|
NM_182961.4(SYNE1):c.23617A>C (p.Ile7873Leu)
|
|
|
|
NM_182961.4(SYNE1):c.23618T>C (p.Ile7873Thr)
|
rs1331488136
|
|
|
NM_182961.4(SYNE1):c.23628-16C>T
|
|
|
|
NM_182961.4(SYNE1):c.23628-17C>G
|
|
|
|
NM_182961.4(SYNE1):c.23635A>G (p.Lys7879Glu)
|
rs2153026780
|
|
|
NM_182961.4(SYNE1):c.23640G>A (p.Leu7880=)
|
|
|
|
NM_182961.4(SYNE1):c.23650C>T (p.Leu7884=)
|
rs1259207970
|
|
|
NM_182961.4(SYNE1):c.23658C>T (p.Ala7886=)
|
|
|
|
NM_182961.4(SYNE1):c.2367G>C (p.Met789Ile)
|
|
|
|
NM_182961.4(SYNE1):c.23681T>C (p.Met7894Thr)
|
|
|
|
NM_182961.4(SYNE1):c.23685C>A (p.Ser7895Arg)
|
rs192734406
|
|
|
NM_182961.4(SYNE1):c.23694G>T (p.Arg7898Ser)
|
rs1028548586
|
|
|
NM_182961.4(SYNE1):c.23696C>T (p.Thr7899Ile)
|
rs757122298
|
|
|
NM_182961.4(SYNE1):c.23716T>G (p.Ser7906Ala)
|
rs2063146847
|
|
|
NM_182961.4(SYNE1):c.23717C>T (p.Ser7906Leu)
|
rs2153025842
|
|
|
NM_182961.4(SYNE1):c.23727C>G (p.Ala7909=)
|
rs200146485
|
|
|
NM_182961.4(SYNE1):c.23735T>C (p.Ile7912Thr)
|
rs2153025589
|
|
|
NM_182961.4(SYNE1):c.23779A>C (p.Asn7927His)
|
rs2063133832
|
|
|
NM_182961.4(SYNE1):c.23790+11A>G
|
rs1462193161
|
|
|
NM_182961.4(SYNE1):c.23790+1G>A
|
rs2153025020
|
|
|
NM_182961.4(SYNE1):c.23790+9T>C
|
rs2153024919
|
|
|
NM_182961.4(SYNE1):c.23791-12G>A
|
rs754785678
|
|
|
NM_182961.4(SYNE1):c.23791-6C>G
|
|
|
|
NM_182961.4(SYNE1):c.23791-6del
|
rs757124573
|
|
|
NM_182961.4(SYNE1):c.23815C>T (p.His7939Tyr)
|
|
|
|
NM_182961.4(SYNE1):c.23824G>A (p.Gly7942Ser)
|
|
|
|
NM_182961.4(SYNE1):c.23841C>G (p.Leu7947=)
|
rs760917529
|
|
|
NM_182961.4(SYNE1):c.23856C>G (p.Val7952=)
|
rs772056716
|
|
|
NM_182961.4(SYNE1):c.2385G>A (p.Gln795=)
|
|
|
|
NM_182961.4(SYNE1):c.23868C>T (p.Asp7956=)
|
|
|
|
NM_182961.4(SYNE1):c.23883C>T (p.Ala7961=)
|
|
|
|
NM_182961.4(SYNE1):c.23892C>T (p.Ala7964=)
|
|
|
|
NM_182961.4(SYNE1):c.23903C>G (p.Ser7968Cys)
|
rs1554441768
|
|
|
NM_182961.4(SYNE1):c.23905A>G (p.Ile7969Val)
|
rs766732148
|
|
|
NM_182961.4(SYNE1):c.23914G>A (p.Ala7972Thr)
|
rs1000667542
|
|
|
NM_182961.4(SYNE1):c.2391C>A (p.Thr797=)
|
rs201500601
|
|
|
NM_182961.4(SYNE1):c.23934G>C (p.Arg7978=)
|
|
|
|
NM_182961.4(SYNE1):c.2394+1G>A
|
|
|
|
NM_182961.4(SYNE1):c.23950T>C (p.Cys7984Arg)
|
rs1586408465
|
|
|
NM_182961.4(SYNE1):c.23956A>G (p.Met7986Val)
|
|
|
|
NM_182961.4(SYNE1):c.23978+16G>T
|
|
|
|
NM_182961.4(SYNE1):c.23979-7G>A
|
rs376918337
|
|
|
NM_182961.4(SYNE1):c.23990C>T (p.Thr7997Met)
|
rs757366114
|
|
|
NM_182961.4(SYNE1):c.23999T>C (p.Leu8000Ser)
|
|
|
|
NM_182961.4(SYNE1):c.24000G>A (p.Leu8000=)
|
|
|
|
NM_182961.4(SYNE1):c.24001_24002del (p.Trp8001fs)
|
|
|
|
NM_182961.4(SYNE1):c.2404T>C (p.Cys802Arg)
|
rs2098714288
|
|
|
NM_182961.4(SYNE1):c.2405G>A (p.Cys802Tyr)
|
|
|
|
NM_182961.4(SYNE1):c.24078C>T (p.Ser8026=)
|
rs2061111726
|
|
|
NM_182961.4(SYNE1):c.2409C>T (p.Tyr803=)
|
|
|
|
NM_182961.4(SYNE1):c.24105C>T (p.Ala8035=)
|
rs2061106684
|
|
|
NM_182961.4(SYNE1):c.24114A>G (p.Glu8038=)
|
rs2061105872
|
|
|
NM_182961.4(SYNE1):c.24118A>T (p.Lys8040Ter)
|
|
|
|
NM_182961.4(SYNE1):c.24120G>C (p.Lys8040Asn)
|
rs2152941881
|
|
|
NM_182961.4(SYNE1):c.24122A>C (p.Lys8041Thr)
|
rs2152941858
|
|
|
NM_182961.4(SYNE1):c.24130-12C>G
|
|
|
|
NM_182961.4(SYNE1):c.24130-3T>C
|
|
|
|
NM_182961.4(SYNE1):c.24157C>T (p.Leu8053=)
|
rs2152920109
|
|
|
NM_182961.4(SYNE1):c.24160A>T (p.Thr8054Ser)
|
|
|
|
NM_182961.4(SYNE1):c.24174G>A (p.Leu8058=)
|
rs928170278
|
|
|
NM_182961.4(SYNE1):c.24183G>A (p.Lys8061=)
|
rs2152919904
|
|
|
NM_182961.4(SYNE1):c.24191G>T (p.Arg8064Leu)
|
|
|
|
NM_182961.4(SYNE1):c.24194G>A (p.Arg8065His)
|
rs201956180
|
|
|
NM_182961.4(SYNE1):c.24221C>G (p.Ser8074Ter)
|
rs1586296730
|
|
|
NM_182961.4(SYNE1):c.24225A>G (p.Ala8075=)
|
rs910415
|
|
|
NM_182961.4(SYNE1):c.24225A>T (p.Ala8075=)
|
rs910415
|
|
|
NM_182961.4(SYNE1):c.24232C>G (p.Leu8078Val)
|
|
|
|
NM_182961.4(SYNE1):c.24249C>T (p.His8083=)
|
|
|
|
NM_182961.4(SYNE1):c.24263G>A (p.Arg8088Lys)
|
|
|
|
NM_182961.4(SYNE1):c.24274C>T (p.Leu8092=)
|
rs2152919136
|
|
|
NM_182961.4(SYNE1):c.24284G>A (p.Arg8095His)
|
rs119103246
|
|
|
NM_182961.4(SYNE1):c.24303C>T (p.Arg8101=)
|
|
|
|
NM_182961.4(SYNE1):c.24310A>G (p.Lys8104Glu)
|
rs1563054108
|
|
|
NM_182961.4(SYNE1):c.24313-12C>T
|
|
|
|
NM_182961.4(SYNE1):c.24328C>T (p.Arg8110Cys)
|
rs749473816
|
|
|
NM_182961.4(SYNE1):c.24366C>G (p.Val8122=)
|
rs764796963
|
|
|
NM_182961.4(SYNE1):c.2436G>C (p.Gln812His)
|
|
|
|
NM_182961.4(SYNE1):c.24373A>C (p.Thr8125Pro)
|
rs2152915749
|
|
|
NM_182961.4(SYNE1):c.24378G>A (p.Glu8126=)
|
rs754573881
|
|
|
NM_182961.4(SYNE1):c.24393C>T (p.Leu8131=)
|
|
|
|
NM_182961.4(SYNE1):c.243C>T (p.Arg81=)
|
|
|
|
NM_182961.4(SYNE1):c.24405A>G (p.Glu8135=)
|
rs2152915378
|
|
|
NM_182961.4(SYNE1):c.24433A>G (p.Lys8145Glu)
|
|
|
|
NM_182961.4(SYNE1):c.24441G>A (p.Lys8147=)
|
rs2060427405
|
|
|
NM_182961.4(SYNE1):c.24444A>G (p.Gln8148=)
|
rs2152914979
|
|
|
NM_182961.4(SYNE1):c.24450+15T>C
|
|
|
|
NM_182961.4(SYNE1):c.24450+8A>G
|
|
|
|
NM_182961.4(SYNE1):c.24451-20A>T
|
|
|
|
NM_182961.4(SYNE1):c.24462G>C (p.Gln8154His)
|
|
|
|
NM_182961.4(SYNE1):c.2446C>A (p.Pro816Thr)
|
rs2098714101
|
|
|
NM_182961.4(SYNE1):c.2447C>T (p.Pro816Leu)
|
|
|
|
NM_182961.4(SYNE1):c.24481A>G (p.Asn8161Asp)
|
rs36215251
|
|
|
NM_182961.4(SYNE1):c.24495G>A (p.Gln8165=)
|
rs760658485
|
|
|
NM_182961.4(SYNE1):c.24497T>C (p.Ile8166Thr)
|
rs201904925
|
|
|
NM_182961.4(SYNE1):c.24503C>A (p.Ala8168Asp)
|
rs1297857077
|
|
|
NM_182961.4(SYNE1):c.24537del (p.Leu8180fs)
|
|
|
|
NM_182961.4(SYNE1):c.2454G>A (p.Glu818=)
|
rs2098714051
|
|
|
NM_182961.4(SYNE1):c.24551T>C (p.Ile8184Thr)
|
rs1344598258
|
|
|
NM_182961.4(SYNE1):c.24555C>G (p.Ile8185Met)
|
rs201799566
|
|
|
NM_182961.4(SYNE1):c.24585C>A (p.Tyr8195Ter)
|
|
|
|
NM_182961.4(SYNE1):c.24597C>T (p.Val8199=)
|
|
|
|
NM_182961.4(SYNE1):c.245G>T (p.Arg82Leu)
|
rs143900928
|
|
|
NM_182961.4(SYNE1):c.24643-14G>A
|
|
|
|
NM_182961.4(SYNE1):c.24643-20del
|
|
|
|
NM_182961.4(SYNE1):c.24643-7C>T
|
|
|
|
NM_182961.4(SYNE1):c.24664C>G (p.Leu8222Val)
|
rs2152881730
|
|
|
NM_182961.4(SYNE1):c.24673A>G (p.Arg8225Gly)
|
rs759109611
|
|
|
NM_182961.4(SYNE1):c.24675G>T (p.Arg8225Ser)
|
|
|
|
NM_182961.4(SYNE1):c.24679C>A (p.Leu8227Met)
|
|
|
|
NM_182961.4(SYNE1):c.24681G>A (p.Leu8227=)
|
|
|
|
NM_182961.4(SYNE1):c.24683A>G (p.Glu8228Gly)
|
|
|
|
NM_182961.4(SYNE1):c.24687G>A (p.Leu8229=)
|
rs1418252063
|
|
|
NM_182961.4(SYNE1):c.24694T>C (p.Ser8232Pro)
|
|
|
|
NM_182961.4(SYNE1):c.24707C>T (p.Ser8236Leu)
|
|
|
|
NM_182961.4(SYNE1):c.24708G>A (p.Ser8236=)
|
|
|
|
NM_182961.4(SYNE1):c.24709G>T (p.Asp8237Tyr)
|
rs2152881229
|
|
|
NM_182961.4(SYNE1):c.24723C>T (p.His8241=)
|
rs141586001
|
|
|
NM_182961.4(SYNE1):c.24757C>G (p.Pro8253Ala)
|
rs952705892
|
|
|
NM_182961.4(SYNE1):c.24777C>G (p.Leu8259=)
|
|
|
|
NM_182961.4(SYNE1):c.24780G>T (p.Ser8260=)
|
rs766320378
|
|
|
NM_182961.4(SYNE1):c.24805C>T (p.Arg8269Trp)
|
|
|
|
NM_182961.4(SYNE1):c.24806G>A (p.Arg8269Gln)
|
|
|
|
NM_182961.4(SYNE1):c.24806G>T (p.Arg8269Leu)
|
rs148367376
|
|
|
NM_182961.4(SYNE1):c.24810A>G (p.Ser8270=)
|
|
|
|
NM_182961.4(SYNE1):c.24832G>A (p.Val8278Met)
|
rs200663180
|
|
|
NM_182961.4(SYNE1):c.24837C>G (p.Asp8279Glu)
|
|
|
|
NM_182961.4(SYNE1):c.24843C>A (p.Ile8281=)
|
|
|
|
NM_182961.4(SYNE1):c.24875G>A (p.Ser8292Asn)
|
rs754883031
|
|
|
NM_182961.4(SYNE1):c.24892G>A (p.Ala8298Thr)
|
|
|
|
NM_182961.4(SYNE1):c.24927A>G (p.Glu8309=)
|
|
|
|
NM_182961.4(SYNE1):c.24929G>A (p.Gly8310Asp)
|
rs1253089660
|
|
|
NM_182961.4(SYNE1):c.24933G>A (p.Gln8311=)
|
|
|
|
NM_182961.4(SYNE1):c.24972A>C (p.Leu8324Phe)
|
rs1554420700
|
|
|
NM_182961.4(SYNE1):c.24976+8A>G
|
|
|
|
NM_182961.4(SYNE1):c.24976+9G>A
|
rs749217089
|
|
|
NM_182961.4(SYNE1):c.24977-13_24996del
|
|
|
|
NM_182961.4(SYNE1):c.24977-15T>C
|
|
|
|
NM_182961.4(SYNE1):c.24977-1706C>T
|
|
|
|
NM_182961.4(SYNE1):c.24977-1711_24977-1709del
|
|
|
|
NM_182961.4(SYNE1):c.24977-1803G>C
|
|
|
|
NM_182961.4(SYNE1):c.24977-4G>A
|
|
|
|
NM_182961.4(SYNE1):c.24978G>T (p.Gly8326=)
|
|
|
|
NM_182961.4(SYNE1):c.24987T>C (p.Ser8329=)
|
rs1562984259
|
|
|
NM_182961.4(SYNE1):c.24989C>T (p.Ala8330Val)
|
|
|
|
NM_182961.4(SYNE1):c.24992T>C (p.Leu8331Pro)
|
rs532387179
|
|
|
NM_182961.4(SYNE1):c.25011A>G (p.Gln8337=)
|
|
|
|
NM_182961.4(SYNE1):c.25014_25015delinsCT (p.Gly8339Cys)
|
rs2152832436
|
|
|
NM_182961.4(SYNE1):c.25030G>A (p.Asp8344Asn)
|
|
|
|
NM_182961.4(SYNE1):c.25037_25038delinsTC (p.Arg8346Leu)
|
|
|
|
NM_182961.4(SYNE1):c.25051C>G (p.Gln8351Glu)
|
rs886044213
|
|
|
NM_182961.4(SYNE1):c.25091C>G (p.Pro8364Arg)
|
|
|
|
NM_182961.4(SYNE1):c.25115G>T (p.Gly8372Val)
|
|
|
|
NM_182961.4(SYNE1):c.25119+18C>A
|
|
|
|
NM_182961.4(SYNE1):c.25120-11T>C
|
|
|
|
NM_182961.4(SYNE1):c.25120-20G>A
|
|
|
|
NM_182961.4(SYNE1):c.25120-3C>T
|
rs749447242
|
|
|
NM_182961.4(SYNE1):c.25120-9T>C
|
|
|
|
NM_182961.4(SYNE1):c.25129C>T (p.Leu8377=)
|
|
|
|
NM_182961.4(SYNE1):c.25134C>A (p.Gly8378=)
|
rs576598951
|
|
|
NM_182961.4(SYNE1):c.25139G>T (p.Cys8380Phe)
|
|
|
|
NM_182961.4(SYNE1):c.25140C>T (p.Cys8380=)
|
rs1585993590
|
|
|
NM_182961.4(SYNE1):c.25150A>G (p.Ile8384Val)
|
rs1421570389
|
|
|
NM_182961.4(SYNE1):c.25151T>C (p.Ile8384Thr)
|
|
|
|
NM_182961.4(SYNE1):c.25159G>T (p.Val8387Leu)
|
rs119103247
|
|
|
NM_182961.4(SYNE1):c.25192GAG[1] (p.Glu8399del)
|
|
|
|
NM_182961.4(SYNE1):c.25193A>G (p.Glu8398Gly)
|
rs2152810960
|
|
|
NM_182961.4(SYNE1):c.25199G>A (p.Ser8400Asn)
|
rs769976238
|
|
|
NM_182961.4(SYNE1):c.25199G>T (p.Ser8400Ile)
|
rs769976238
|
|
|
NM_182961.4(SYNE1):c.25231G>C (p.Glu8411Gln)
|
rs371211999
|
|
|
NM_182961.4(SYNE1):c.25234A>G (p.Thr8412Ala)
|
|
|
|
NM_182961.4(SYNE1):c.25242G>A (p.Thr8414=)
|
|
|
|
NM_182961.4(SYNE1):c.25246+7G>A
|
rs1585989458
|
|
|
NM_182961.4(SYNE1):c.25246+8C>G
|
rs760126474
|
|
|
NM_182961.4(SYNE1):c.25247-16_25247-15dup
|
rs2152800859
|
|
|
NM_182961.4(SYNE1):c.25259G>A (p.Arg8420Gln)
|
rs556231915
|
|
|
NM_182961.4(SYNE1):c.25267C>T (p.Leu8423Phe)
|
|
|
|
NM_182961.4(SYNE1):c.25347G>A (p.Leu8449=)
|
rs1292954995
|
|
|
NM_182961.4(SYNE1):c.25359G>A (p.Trp8453Ter)
|
|
|
|
NM_182961.4(SYNE1):c.2536C>T (p.Gln846Ter)
|
rs2098713648
|
|
|
NM_182961.4(SYNE1):c.25375A>C (p.Thr8459Pro)
|
rs754937504
|
|
|
NM_182961.4(SYNE1):c.25377G>C (p.Thr8459=)
|
rs755748581
|
|
|
NM_182961.4(SYNE1):c.25383G>A (p.Glu8461=)
|
rs2152799773
|
|
|
NM_182961.4(SYNE1):c.25384G>A (p.Glu8462Lys)
|
|
|
|
NM_182961.4(SYNE1):c.25386G>C (p.Glu8462Asp)
|
|
|
|
NM_182961.4(SYNE1):c.25387T>C (p.Leu8463=)
|
|
|
|
NM_182961.4(SYNE1):c.25434C>T (p.Ile8478=)
|
|
|
|
NM_182961.4(SYNE1):c.25435G>A (p.Glu8479Lys)
|
rs754577367
|
|
|
NM_182961.4(SYNE1):c.25439T>A (p.Leu8480His)
|
rs2152799197
|
|
|
NM_182961.4(SYNE1):c.25458+13T>C
|
|
|
|
NM_182961.4(SYNE1):c.25459-8C>A
|
|
|
|
NM_182961.4(SYNE1):c.25464C>G (p.Leu8488=)
|
rs2152753360
|
|
|
NM_182961.4(SYNE1):c.25498C>G (p.Leu8500Val)
|
|
|
|
NM_182961.4(SYNE1):c.25504A>G (p.Ile8502Val)
|
rs2057180997
|
|
|
NM_182961.4(SYNE1):c.25509T>C (p.Asn8503=)
|
|
|
|
NM_182961.4(SYNE1):c.25528A>C (p.Thr8510Pro)
|
|
|
|
NM_182961.4(SYNE1):c.25529C>T (p.Thr8510Ile)
|
rs1404247560
|
|
|
NM_182961.4(SYNE1):c.25542C>T (p.Ser8514=)
|
|
|
|
NM_182961.4(SYNE1):c.25589G>A (p.Arg8530His)
|
|
|
|
NM_182961.4(SYNE1):c.25591T>A (p.Trp8531Arg)
|
|
|
|
NM_182961.4(SYNE1):c.25598G>A (p.Arg8533Gln)
|
rs1420121296
|
|
|
NM_182961.4(SYNE1):c.25604G>A (p.Cys8535Tyr)
|
|
|
|
NM_182961.4(SYNE1):c.25634T>G (p.Leu8545Arg)
|
|
|
|
NM_182961.4(SYNE1):c.25659+16G>C
|
|
|
|
NM_182961.4(SYNE1):c.25659+18C>G
|
|
|
|
NM_182961.4(SYNE1):c.25660-11_25660-10del
|
rs1585772300
|
|
|
NM_182961.4(SYNE1):c.25660-4G>A
|
|
|
|
NM_182961.4(SYNE1):c.25660-8T>C
|
rs371504964
|
|
|
NM_182961.4(SYNE1):c.25679A>G (p.His8560Arg)
|
rs1164254591
|
|
|
NM_182961.4(SYNE1):c.2568+1G>A
|
rs2154261629
|
|
|
NM_182961.4(SYNE1):c.2569-14T>G
|
rs2154258222
|
|
|
NM_182961.4(SYNE1):c.2569-19G>C
|
|
|
|
NM_182961.4(SYNE1):c.25704C>T (p.Asn8568=)
|
rs559811773
|
|
|
NM_182961.4(SYNE1):c.25705A>G (p.Ile8569Val)
|
rs1260198851
|
|
|
NM_182961.4(SYNE1):c.25717A>G (p.Lys8573Glu)
|
rs1562922141
|
|
|
NM_182961.4(SYNE1):c.2572C>T (p.Leu858=)
|
|
|
|
NM_182961.4(SYNE1):c.25731C>G (p.Val8577=)
|
rs2152737515
|
|
|
NM_182961.4(SYNE1):c.25746C>T (p.Asn8582=)
|
rs774875575
|
|
|
NM_182961.4(SYNE1):c.25747C>G (p.Leu8583Val)
|
|
|
|
NM_182961.4(SYNE1):c.25750G>A (p.Asp8584Asn)
|
|
|
|
NM_182961.4(SYNE1):c.25751A>G (p.Asp8584Gly)
|
|
|
|
NM_182961.4(SYNE1):c.25756G>A (p.Glu8586Lys)
|
|
|
|
NM_182961.4(SYNE1):c.25758G>A (p.Glu8586=)
|
|
|
|
NM_182961.4(SYNE1):c.25776C>A (p.His8592Gln)
|
rs544950546
|
|
|
NM_182961.4(SYNE1):c.25788+18dup
|
rs1187750937
|
|
|
NM_182961.4(SYNE1):c.25788+6A>G
|
|
|
|
NM_182961.4(SYNE1):c.25789-10G>A
|
rs2056337983
|
|
|
NM_182961.4(SYNE1):c.25791A>T (p.Gln8597His)
|
|
|
|
NM_182961.4(SYNE1):c.25797G>T (p.Lys8599Asn)
|
|
|
|
NM_182961.4(SYNE1):c.25807T>C (p.Leu8603=)
|
|
|
|
NM_182961.4(SYNE1):c.25816C>T (p.Gln8606Ter)
|
|
|
|
NM_182961.4(SYNE1):c.25820T>C (p.Leu8607Pro)
|
rs2152720317
|
|
|
NM_182961.4(SYNE1):c.25840G>C (p.Asp8614His)
|
rs756313747
|
|
|
NM_182961.4(SYNE1):c.25843A>C (p.Met8615Leu)
|
|
|
|
NM_182961.4(SYNE1):c.25866T>C (p.Asn8622=)
|
|
|
|
NM_182961.4(SYNE1):c.25904T>C (p.Val8635Ala)
|
|
|
|
NM_182961.4(SYNE1):c.25916G>C (p.Gly8639Ala)
|
|
|
|
NM_182961.4(SYNE1):c.2591A>G (p.Asn864Ser)
|
rs13210845
|
|
|
NM_182961.4(SYNE1):c.25935C>T (p.Leu8645=)
|
|
|
|
NM_182961.4(SYNE1):c.2593T>A (p.Cys865Ser)
|
rs1192925822
|
|
|
NM_182961.4(SYNE1):c.25984G>A (p.Val8662Met)
|
|
|
|
NM_182961.4(SYNE1):c.2598G>A (p.Lys866=)
|
rs1288453744
|
|
|
NM_182961.4(SYNE1):c.25992T>C (p.Ser8664=)
|
rs2152718592
|
|
|
NM_182961.4(SYNE1):c.25C>A (p.Arg9=)
|
|
|
|
NM_182961.4(SYNE1):c.26001+11A>T
|
|
|
|
NM_182961.4(SYNE1):c.26001+7_26001+8delinsTC
|
rs2152718365
|
|
|
NM_182961.4(SYNE1):c.26002-17A>G
|
|
|
|
NM_182961.4(SYNE1):c.26002-7C>T
|
|
|
|
NM_182961.4(SYNE1):c.26023G>A (p.Ala8675Thr)
|
rs1554376325
|
|
|
NM_182961.4(SYNE1):c.26040C>T (p.Thr8680=)
|
|
|
|
NM_182961.4(SYNE1):c.26043A>G (p.Ser8681=)
|
rs1657226622
|
|
|
NM_182961.4(SYNE1):c.2604C>A (p.Thr868=)
|
|
|
|
NM_182961.4(SYNE1):c.26055T>C (p.Ser8685=)
|
|
|
|
NM_182961.4(SYNE1):c.26066G>A (p.Gly8689Glu)
|
rs2152705585
|
|
|
NM_182961.4(SYNE1):c.26068A>G (p.Arg8690Gly)
|
|
|
|
NM_182961.4(SYNE1):c.26073C>A (p.Ser8691Arg)
|
|
|
|
NM_182961.4(SYNE1):c.26094+17C>T
|
|
|
|
NM_182961.4(SYNE1):c.26094+18G>A
|
|
|
|
NM_182961.4(SYNE1):c.26095-15G>A
|
|
|
|
NM_182961.4(SYNE1):c.26095-17dup
|
|
|
|
NM_182961.4(SYNE1):c.26100A>G (p.Arg8700=)
|
rs1554372048
|
|
|
NM_182961.4(SYNE1):c.26138G>T (p.Ser8713Ile)
|
|
|
|
NM_182961.4(SYNE1):c.26148T>C (p.His8716=)
|
|
|
|
NM_182961.4(SYNE1):c.26153+18T>A
|
rs1057523744
|
|
|
NM_182961.4(SYNE1):c.26153+6T>C
|
|
|
|
NM_182961.4(SYNE1):c.26153+8C>T
|
|
|
|
NM_182961.4(SYNE1):c.26154-10C>A
|
rs749838365
|
|
|
NM_182961.4(SYNE1):c.26154-10C>T
|
rs749838365
|
|
|
NM_182961.4(SYNE1):c.26154-16T>A
|
|
|
|
NM_182961.4(SYNE1):c.26154-9T>C
|
|
|
|
NM_182961.4(SYNE1):c.26172C>T (p.Ser8724=)
|
|
|
|
NM_182961.4(SYNE1):c.26180C>T (p.Ser8727Phe)
|
rs1585315718
|
|
|
NM_182961.4(SYNE1):c.26195G>A (p.Gly8732Glu)
|
rs1554349162
|
|
|
NM_182961.4(SYNE1):c.26204G>A (p.Arg8735Gln)
|
rs2295192
|
|
|
NM_182961.4(SYNE1):c.26204G>T (p.Arg8735Leu)
|
rs2295192
|
|
|
NM_182961.4(SYNE1):c.26207C>A (p.Ser8736Tyr)
|
rs1258213221
|
|
|
NM_182961.4(SYNE1):c.26241A>G (p.Ala8747=)
|
rs2152525767
|
|
|
NM_182961.4(SYNE1):c.26266CTC[2] (p.Leu8758del)
|
rs1310428962
|
|
|
NM_182961.4(SYNE1):c.26285C>T (p.Ala8762Val)
|
rs983040762
|
|
|
NM_182961.4(SYNE1):c.26308G>A (p.Glu8770Lys)
|
|
|
|
NM_182961.4(SYNE1):c.26325C>G (p.Ala8775=)
|
|
|
|
NM_182961.4(SYNE1):c.26352C>A (p.Phe8784Leu)
|
rs2051624339
|
|
|
NM_182961.4(SYNE1):c.26372C>A (p.Thr8791Lys)
|
rs567376316
|
|
|
NM_182961.4(SYNE1):c.26372C>T (p.Thr8791Met)
|
rs567376316
|
|
|
NM_182961.4(SYNE1):c.26375A>G (p.Asn8792Ser)
|
rs754932611
|
|
|
NM_182961.4(SYNE1):c.26376T>C (p.Asn8792=)
|
rs2152524493
|
|
|
NM_182961.4(SYNE1):c.2684C>G (p.Thr895Arg)
|
rs373633207
|
|
|
NM_182961.4(SYNE1):c.2684C>T (p.Thr895Met)
|
rs373633207
|
|
|
NM_182961.4(SYNE1):c.2688G>A (p.Arg896=)
|
rs766583731
|
|
|
NM_182961.4(SYNE1):c.2688G>C (p.Arg896Ser)
|
|
|
|
NM_182961.4(SYNE1):c.2727+14C>T
|
|
|
|
NM_182961.4(SYNE1):c.2728-14T>C
|
|
|
|
NM_182961.4(SYNE1):c.2728A>T (p.Ser910Cys)
|
rs141214076
|
|
|
NM_182961.4(SYNE1):c.274A>G (p.Ile92Val)
|
rs756151309
|
|
|
NM_182961.4(SYNE1):c.2761C>T (p.His921Tyr)
|
rs746476950
|
|
|
NM_182961.4(SYNE1):c.2772C>T (p.Thr924=)
|
|
|
|
NM_182961.4(SYNE1):c.2779C>T (p.Arg927Cys)
|
|
|
|
NM_182961.4(SYNE1):c.2780G>A (p.Arg927His)
|
|
|
|
NM_182961.4(SYNE1):c.2798A>G (p.Glu933Gly)
|
rs2098689694
|
|
|
NM_182961.4(SYNE1):c.2810C>A (p.Ala937Glu)
|
|
|
|
NM_182961.4(SYNE1):c.281C>T (p.Thr94Met)
|
|
|
|
NM_182961.4(SYNE1):c.2821A>G (p.Lys941Glu)
|
rs2154257288
|
|
|
NM_182961.4(SYNE1):c.2830C>T (p.Arg944Trp)
|
|
|
|
NM_182961.4(SYNE1):c.2831G>A (p.Arg944Gln)
|
|
|
|
NM_182961.4(SYNE1):c.2835T>A (p.Ile945=)
|
|
|
|
NM_182961.4(SYNE1):c.2846G>A (p.Gly949Asp)
|
|
|
|
NM_182961.4(SYNE1):c.2859G>A (p.Lys953=)
|
rs2098689434
|
|
|
NM_182961.4(SYNE1):c.285A>G (p.Ala95=)
|
rs2154348348
|
|
|
NM_182961.4(SYNE1):c.2869G>C (p.Glu957Gln)
|
rs2154257153
|
|
|
NM_182961.4(SYNE1):c.2871G>A (p.Glu957=)
|
|
|
|
NM_182961.4(SYNE1):c.2881C>A (p.Arg961=)
|
|
|
|
NM_182961.4(SYNE1):c.2886A>G (p.Arg962=)
|
|
|
|
NM_182961.4(SYNE1):c.288C>G (p.Leu96=)
|
|
|
|
NM_182961.4(SYNE1):c.2893-12C>G
|
|
|
|
NM_182961.4(SYNE1):c.2893-15C>T
|
|
|
|
NM_182961.4(SYNE1):c.2893-6T>C
|
rs886042945
|
|
|
NM_182961.4(SYNE1):c.2946T>C (p.Cys982=)
|
|
|
|
NM_182961.4(SYNE1):c.2958C>T (p.Thr986=)
|
|
|
|
NM_182961.4(SYNE1):c.2974C>A (p.Gln992Lys)
|
|
|
|
NM_182961.4(SYNE1):c.2975A>C (p.Gln992Pro)
|
rs1564137172
|
|
|
NM_182961.4(SYNE1):c.297C>T (p.Leu99=)
|
rs1355556442
|
|
|
NM_182961.4(SYNE1):c.2988G>C (p.Gly996=)
|
|
|
|
NM_182961.4(SYNE1):c.2991G>C (p.Leu997=)
|
|
|
|
NM_182961.4(SYNE1):c.2992C>T (p.Gln998Ter)
|
rs2154254291
|
|
|
NM_182961.4(SYNE1):c.2998G>A (p.Ala1000Thr)
|
rs771446969
|
|
|
NM_182961.4(SYNE1):c.299A>C (p.Glu100Ala)
|
|
|
|
NM_182961.4(SYNE1):c.3004C>A (p.Arg1002=)
|
rs1264723962
|
|
|
NM_182961.4(SYNE1):c.3009G>A (p.Lys1003=)
|
|
|
|
NM_182961.4(SYNE1):c.3027+18G>A
|
|
|
|
NM_182961.4(SYNE1):c.3077T>C (p.Val1026Ala)
|
rs776586157
|
|
|
NM_182961.4(SYNE1):c.3083A>G (p.Lys1028Arg)
|
rs369619658
|
|
|
NM_182961.4(SYNE1):c.309+3A>G
|
rs2099133351
|
|
|
NM_182961.4(SYNE1):c.309+5G>C
|
rs2154348308
|
|
|
NM_182961.4(SYNE1):c.3090G>T (p.Arg1030Ser)
|
rs925892033
|
|
|
NM_182961.4(SYNE1):c.310-18T>G
|
rs1353458809
|
|
|
NM_182961.4(SYNE1):c.310-482C>T
|
rs561359644
|
|
|
NM_182961.4(SYNE1):c.310-495A>G
|
|
|
|
NM_182961.4(SYNE1):c.310-498_310-497del
|
|
|
|
NM_182961.4(SYNE1):c.310-506C>A
|
|
|
|
NM_182961.4(SYNE1):c.310-506C>T
|
|
|
|
NM_182961.4(SYNE1):c.310-7T>A
|
rs1341089745
|
|
|
NM_182961.4(SYNE1):c.310-8T>C
|
|
|
|
NM_182961.4(SYNE1):c.3109G>A (p.Glu1037Lys)
|
rs545152377
|
|
|
NM_182961.4(SYNE1):c.3173_3176del (p.Ile1058fs)
|
|
|
|
NM_182961.4(SYNE1):c.3180G>C (p.Glu1060Asp)
|
|
|
|
NM_182961.4(SYNE1):c.3186+18C>T
|
|
|
|
NM_182961.4(SYNE1):c.3186+18del
|
rs2154250649
|
|
|
NM_182961.4(SYNE1):c.3186+20A>G
|
rs2154250647
|
|
|
NM_182961.4(SYNE1):c.3186+9C>A
|
|
|
|
NM_182961.4(SYNE1):c.3208C>A (p.Pro1070Thr)
|
|
|
|
NM_182961.4(SYNE1):c.3211C>T (p.His1071Tyr)
|
|
|
|
NM_182961.4(SYNE1):c.3217C>T (p.Leu1073Phe)
|
|
|
|
NM_182961.4(SYNE1):c.3230G>C (p.Arg1077Thr)
|
|
|
|
NM_182961.4(SYNE1):c.3230G>T (p.Arg1077Met)
|
|
|
|
NM_182961.4(SYNE1):c.323A>G (p.Asn108Ser)
|
|
|
|
NM_182961.4(SYNE1):c.3243C>T (p.Ile1081=)
|
|
|
|
NM_182961.4(SYNE1):c.3254G>A (p.Cys1085Tyr)
|
|
|
|
NM_182961.4(SYNE1):c.3256G>A (p.Val1086Met)
|
rs1592962615
|
|
|
NM_182961.4(SYNE1):c.3258G>A (p.Val1086=)
|
|
|
|
NM_182961.4(SYNE1):c.3262C>T (p.Leu1088Phe)
|
rs2098641244
|
|
|
NM_182961.4(SYNE1):c.3304C>T (p.His1102Tyr)
|
rs2098640852
|
|
|
NM_182961.4(SYNE1):c.3319_3320delinsAT (p.Glu1107Met)
|
|
|
|
NM_182961.4(SYNE1):c.3321G>T (p.Glu1107Asp)
|
rs2154250248
|
|
|
NM_182961.4(SYNE1):c.3324C>A (p.Leu1108=)
|
rs1392215550
|
|
|
NM_182961.4(SYNE1):c.3341G>A (p.Ser1114Asn)
|
rs377684975
|
|
|
NM_182961.4(SYNE1):c.3376T>C (p.Trp1126Arg)
|
|
|
|
NM_182961.4(SYNE1):c.3388A>T (p.Thr1130Ser)
|
rs1194769025
|
|
|
NM_182961.4(SYNE1):c.338A>G (p.Asp113Gly)
|
rs886044019
|
|
|
NM_182961.4(SYNE1):c.3395+20C>G
|
|
|
|
NM_182961.4(SYNE1):c.3395+7T>C
|
|
|
|
NM_182961.4(SYNE1):c.339T>C (p.Asp113=)
|
|
|
|
NM_182961.4(SYNE1):c.3419T>C (p.Ile1140Thr)
|
rs1352916426
|
|
|
NM_182961.4(SYNE1):c.3446G>A (p.Gly1149Glu)
|
rs1592939078
|
|
|
NM_182961.4(SYNE1):c.3494G>T (p.Arg1165Leu)
|
rs201354687
|
|
|
NM_182961.4(SYNE1):c.3499_3500del (p.Ala1166_Val1167insTer)
|
rs1554721227
|
|
|
NM_182961.4(SYNE1):c.3504+13T>C
|
|
|
|
NM_182961.4(SYNE1):c.3504+5G>C
|
rs1398879746
|
|
|
NM_182961.4(SYNE1):c.3504+9A>G
|
|
|
|
NM_182961.4(SYNE1):c.3549G>T (p.Trp1183Cys)
|
rs2098603484
|
|
|
NM_182961.4(SYNE1):c.3556T>C (p.Ser1186Pro)
|
|
|
|
NM_182961.4(SYNE1):c.3630A>T (p.Leu1210Phe)
|
|
|
|
NM_182961.4(SYNE1):c.3641_3651del (p.Phe1214fs)
|
|
|
|
NM_182961.4(SYNE1):c.3649C>A (p.Leu1217Ile)
|
rs2154244956
|
|
|
NM_182961.4(SYNE1):c.3650T>C (p.Leu1217Pro)
|
|
|
|
NM_182961.4(SYNE1):c.3660G>A (p.Leu1220=)
|
|
|
|
NM_182961.4(SYNE1):c.3669+13C>T
|
|
|
|
NM_182961.4(SYNE1):c.3669+20T>G
|
|
|
|
NM_182961.4(SYNE1):c.3670-14T>C
|
rs780827995
|
|
|
NM_182961.4(SYNE1):c.3670-14del
|
rs111322292
|
|
|
NM_182961.4(SYNE1):c.3670-14dup
|
rs111322292
|
|
|
NM_182961.4(SYNE1):c.3670-17T>C
|
|
|
|
NM_182961.4(SYNE1):c.3720A>G (p.Ile1240Met)
|
|
|
|
NM_182961.4(SYNE1):c.3736G>C (p.Glu1246Gln)
|
|
|
|
NM_182961.4(SYNE1):c.3749C>G (p.Ser1250Cys)
|
rs775456029
|
|
|
NM_182961.4(SYNE1):c.3769G>A (p.Glu1257Lys)
|
|
|
|
NM_182961.4(SYNE1):c.3772C>A (p.Gln1258Lys)
|
|
|
|
NM_182961.4(SYNE1):c.3803T>A (p.Leu1268Gln)
|
rs2154239333
|
|
|
NM_182961.4(SYNE1):c.3810A>G (p.Glu1270=)
|
rs2154239316
|
|
|
NM_182961.4(SYNE1):c.3837+17C>A
|
|
|
|
NM_182961.4(SYNE1):c.384C>T (p.Thr128=)
|
rs773315965
|
|
|
NM_182961.4(SYNE1):c.3852G>A (p.Arg1284=)
|
|
|
|
NM_182961.4(SYNE1):c.3869G>C (p.Arg1290Thr)
|
|
|
|
NM_182961.4(SYNE1):c.3873T>C (p.Asp1291=)
|
rs778275142
|
|
|
NM_182961.4(SYNE1):c.3873T>G (p.Asp1291Glu)
|
|
|
|
NM_182961.4(SYNE1):c.3899A>G (p.Gln1300Arg)
|
|
|
|
NM_182961.4(SYNE1):c.38A>G (p.Asp13Gly)
|
rs2099690291
|
|
|
NM_182961.4(SYNE1):c.3911G>T (p.Gly1304Val)
|
|
|
|
NM_182961.4(SYNE1):c.3912G>C (p.Gly1304=)
|
|
|
|
NM_182961.4(SYNE1):c.3913G>A (p.Gly1305Arg)
|
rs1350747356
|
|
|
NM_182961.4(SYNE1):c.3914G>T (p.Gly1305Val)
|
|
|
|
NM_182961.4(SYNE1):c.3917T>C (p.Leu1306Pro)
|
rs1417438989
|
|
|
NM_182961.4(SYNE1):c.3926G>C (p.Arg1309Pro)
|
|
|
|
NM_182961.4(SYNE1):c.393A>C (p.Leu131=)
|
rs139291592
|
|
|
NM_182961.4(SYNE1):c.393A>G (p.Leu131=)
|
rs139291592
|
|
|
NM_182961.4(SYNE1):c.3956G>A (p.Ser1319Asn)
|
|
|
|
NM_182961.4(SYNE1):c.3958A>G (p.Thr1320Ala)
|
|
|
|
NM_182961.4(SYNE1):c.3971T>G (p.Leu1324Arg)
|
rs911005692
|
|
|
NM_182961.4(SYNE1):c.3977G>A (p.Arg1326His)
|
rs371842938
|
|
|
NM_182961.4(SYNE1):c.3977G>T (p.Arg1326Leu)
|
rs371842938
|
|
|
NM_182961.4(SYNE1):c.3982C>T (p.Arg1328Trp)
|
rs1465224604
|
|
|
NM_182961.4(SYNE1):c.4000C>G (p.Arg1334Gly)
|
|
|
|
NM_182961.4(SYNE1):c.4008+18G>A
|
rs2154232610
|
|
|
NM_182961.4(SYNE1):c.4008+20G>A
|
|
|
|
NM_182961.4(SYNE1):c.4008+5G>T
|
rs1350714036
|
|
|
NM_182961.4(SYNE1):c.4009-19T>C
|
|
|
|
NM_182961.4(SYNE1):c.402+16del
|
rs1459487255
|
|
|
NM_182961.4(SYNE1):c.402+18C>A
|
|
|
|
NM_182961.4(SYNE1):c.403-16G>A
|
|
|
|
NM_182961.4(SYNE1):c.4044_4047del (p.Asn1348fs)
|
rs2098527248
|
|
|
NM_182961.4(SYNE1):c.4063T>C (p.Tyr1355His)
|
|
|
|
NM_182961.4(SYNE1):c.408A>G (p.Glu136=)
|
|
|
|
NM_182961.4(SYNE1):c.4098C>T (p.Phe1366=)
|
|
|
|
NM_182961.4(SYNE1):c.4103G>C (p.Ser1368Thr)
|
rs998116525
|
|
|
NM_182961.4(SYNE1):c.4121G>A (p.Ser1374Asn)
|
rs1554707111
|
|
|
NM_182961.4(SYNE1):c.4149+11del
|
|
|
|
NM_182961.4(SYNE1):c.4149+14C>T
|
|
|
|
NM_182961.4(SYNE1):c.4149+9T>C
|
rs1554706986
|
|
|
NM_182961.4(SYNE1):c.4150-20G>A
|
|
|
|
NM_182961.4(SYNE1):c.4150-20G>T
|
rs372652425
|
|
|
NM_182961.4(SYNE1):c.4150-5dup
|
rs776033844
|
|
|
NM_182961.4(SYNE1):c.4156T>C (p.Ser1386Pro)
|
rs1554696981
|
|
|
NM_182961.4(SYNE1):c.4162C>A (p.Arg1388=)
|
rs34028822
|
|
|
NM_182961.4(SYNE1):c.4163G>A (p.Arg1388Gln)
|
|
|
|
NM_182961.4(SYNE1):c.4183C>A (p.Gln1395Lys)
|
rs2098471423
|
|
|
NM_182961.4(SYNE1):c.4218A>C (p.Ile1406=)
|
rs368727420
|
|
|
NM_182961.4(SYNE1):c.4218A>T (p.Ile1406=)
|
|
|
|
NM_182961.4(SYNE1):c.4220C>T (p.Pro1407Leu)
|
|
|
|
NM_182961.4(SYNE1):c.4221G>A (p.Pro1407=)
|
rs200370595
|
|
|
NM_182961.4(SYNE1):c.4239G>A (p.Lys1413=)
|
rs895948901
|
|
|
NM_182961.4(SYNE1):c.4257G>A (p.Gln1419=)
|
|
|
|
NM_182961.4(SYNE1):c.4275A>G (p.Glu1425=)
|
rs2154214696
|
|
|
NM_182961.4(SYNE1):c.4292A>G (p.Glu1431Gly)
|
rs779044367
|
|
|
NM_182961.4(SYNE1):c.4298C>A (p.Thr1433Lys)
|
rs139798419
|
|
|
NM_182961.4(SYNE1):c.42C>T (p.Ile14=)
|
|
|
|
NM_182961.4(SYNE1):c.4305A>G (p.Glu1435=)
|
rs2098470446
|
|
|
NM_182961.4(SYNE1):c.4310+7G>C
|
rs1564002853
|
|
|
NM_182961.4(SYNE1):c.4313T>A (p.Ile1438Asn)
|
rs886044260
|
|
|
NM_182961.4(SYNE1):c.4327del (p.Met1443fs)
|
|
|
|
NM_182961.4(SYNE1):c.4372_4373del (p.Leu1458fs)
|
rs794727577
|
|
|
NM_182961.4(SYNE1):c.4373T>C (p.Leu1458Pro)
|
rs2154210873
|
|
|
NM_182961.4(SYNE1):c.4378G>C (p.Val1460Leu)
|
|
|
|
NM_182961.4(SYNE1):c.4378G>T (p.Val1460Phe)
|
|
|
|
NM_182961.4(SYNE1):c.4388C>G (p.Thr1463Ser)
|
rs2154210826
|
|
|
NM_182961.4(SYNE1):c.4411G>A (p.Ala1471Thr)
|
rs1350630909
|
|
|
NM_182961.4(SYNE1):c.4413C>T (p.Ala1471=)
|
|
|
|
NM_182961.4(SYNE1):c.4425G>A (p.Ser1475=)
|
|
|
|
NM_182961.4(SYNE1):c.4444C>G (p.Gln1482Glu)
|
|
|
|
NM_182961.4(SYNE1):c.4449C>G (p.Ile1483Met)
|
|
|
|
NM_182961.4(SYNE1):c.4461+12A>C
|
|
|
|
NM_182961.4(SYNE1):c.4461+18_4461+20del
|
|
|
|
NM_182961.4(SYNE1):c.4462-10T>C
|
|
|
|
NM_182961.4(SYNE1):c.4462G>A (p.Val1488Ile)
|
rs2154201681
|
|
|
NM_182961.4(SYNE1):c.4513G>T (p.Glu1505Ter)
|
rs757744079
|
|
|
NM_182961.4(SYNE1):c.4521C>A (p.Ala1507=)
|
|
|
|
NM_182961.4(SYNE1):c.4523_4524insTCA (p.Ala1507_Gln1508insHis)
|
rs2098420279
|
|
|
NM_182961.4(SYNE1):c.4528T>C (p.Phe1510Leu)
|
rs1554687302
|
|
|
NM_182961.4(SYNE1):c.4534C>T (p.Gln1512Ter)
|
rs988770583
|
|
|
NM_182961.4(SYNE1):c.4535A>G (p.Gln1512Arg)
|
rs141597053
|
|
|
NM_182961.4(SYNE1):c.453C>T (p.Ser151=)
|
rs749920635
|
|
|
NM_182961.4(SYNE1):c.4548T>C (p.Thr1516=)
|
rs776593228
|
|
|
NM_182961.4(SYNE1):c.4603G>A (p.Glu1535Lys)
|
rs1209224800
|
|
|
NM_182961.4(SYNE1):c.4619C>A (p.Ala1540Glu)
|
rs1187109031
|
|
|
NM_182961.4(SYNE1):c.4625G>A (p.Cys1542Tyr)
|
rs1487588055
|
|
|
NM_182961.4(SYNE1):c.4659G>C (p.Gln1553His)
|
rs144533000
|
|
|
NM_182961.4(SYNE1):c.4676A>T (p.Glu1559Val)
|
rs1554686616
|
|
|
NM_182961.4(SYNE1):c.4680C>A (p.Asn1560Lys)
|
|
|
|
NM_182961.4(SYNE1):c.4689+12T>A
|
|
|
|
NM_182961.4(SYNE1):c.4689+13C>G
|
|
|
|
NM_182961.4(SYNE1):c.4689+15A>G
|
|
|
|
NM_182961.4(SYNE1):c.4689+16C>G
|
|
|
|
NM_182961.4(SYNE1):c.4690-14C>T
|
|
|
|
NM_182961.4(SYNE1):c.4690-15G>A
|
rs2154201104
|
|
|
NM_182961.4(SYNE1):c.4695G>T (p.Gln1565His)
|
rs2154201077
|
|
|
NM_182961.4(SYNE1):c.4703T>C (p.Val1568Ala)
|
rs2154201070
|
|
|
NM_182961.4(SYNE1):c.4729G>C (p.Val1577Leu)
|
rs2098415660
|
|
|
NM_182961.4(SYNE1):c.4744T>A (p.Cys1582Ser)
|
rs1394715779
|
|
|
NM_182961.4(SYNE1):c.4756A>G (p.Thr1586Ala)
|
rs749571011
|
|
|
NM_182961.4(SYNE1):c.4765T>C (p.Tyr1589His)
|
|
|
|
NM_182961.4(SYNE1):c.4782A>G (p.Glu1594=)
|
|
|
|
NM_182961.4(SYNE1):c.4787T>A (p.Met1596Lys)
|
|
|
|
NM_182961.4(SYNE1):c.4788+19A>G
|
rs764033698
|
|
|
NM_182961.4(SYNE1):c.4788+20T>C
|
|
|
|
NM_182961.4(SYNE1):c.4789-10C>T
|
|
|
|
NM_182961.4(SYNE1):c.4789-13G>C
|
|
|
|
NM_182961.4(SYNE1):c.4789-3T>C
|
rs1228194784
|
|
|
NM_182961.4(SYNE1):c.4789-5_4789-3del
|
rs1592495200
|
|
|
NM_182961.4(SYNE1):c.4789-6T>C
|
|
|
|
NM_182961.4(SYNE1):c.4789-9T>G
|
|
|
|
NM_182961.4(SYNE1):c.4824G>C (p.Ala1608=)
|
|
|
|
NM_182961.4(SYNE1):c.4889C>G (p.Ala1630Gly)
|
rs566004273
|
|
|
NM_182961.4(SYNE1):c.4890G>A (p.Ala1630=)
|
|
|
|
NM_182961.4(SYNE1):c.4892C>T (p.Ala1631Val)
|
rs1268913905
|
|
|
NM_182961.4(SYNE1):c.4894C>T (p.Leu1632=)
|
|
|
|
NM_182961.4(SYNE1):c.4902G>A (p.Gln1634=)
|
rs886044228
|
|
|
NM_182961.4(SYNE1):c.4909G>C (p.Glu1637Gln)
|
|
|
|
NM_182961.4(SYNE1):c.4923G>A (p.Arg1641=)
|
|
|
|
NM_182961.4(SYNE1):c.4928C>G (p.Ala1643Gly)
|
|
|
|
NM_182961.4(SYNE1):c.4944G>A (p.Thr1648=)
|
|
|
|
NM_182961.4(SYNE1):c.4959G>C (p.Leu1653=)
|
|
|
|
NM_182961.4(SYNE1):c.4975_4976+8del
|
rs1592490234
|
|
|
NM_182961.4(SYNE1):c.4976+10A>G
|
|
|
|
NM_182961.4(SYNE1):c.4977-18G>T
|
|
|
|
NM_182961.4(SYNE1):c.4981G>A (p.Glu1661Lys)
|
rs2154197911
|
|
|
NM_182961.4(SYNE1):c.5018G>C (p.Arg1673Pro)
|
rs749115727
|
|
|
NM_182961.4(SYNE1):c.5019G>A (p.Arg1673=)
|
|
|
|
NM_182961.4(SYNE1):c.5026G>T (p.Ala1676Ser)
|
|
|
|
NM_182961.4(SYNE1):c.5058T>C (p.Ser1686=)
|
|
|
|
NM_182961.4(SYNE1):c.5070C>A (p.Val1690=)
|
rs146789107
|
|
|
NM_182961.4(SYNE1):c.5070C>G (p.Val1690=)
|
rs146789107
|
|
|
NM_182961.4(SYNE1):c.509G>T (p.Arg170Leu)
|
rs779239788
|
|
|
NM_182961.4(SYNE1):c.5100+19G>A
|
rs901073481
|
|
|
NM_182961.4(SYNE1):c.5101-10T>C
|
|
|
|
NM_182961.4(SYNE1):c.5101-8T>C
|
|
|
|
NM_182961.4(SYNE1):c.5105T>C (p.Leu1702Pro)
|
|
|
|
NM_182961.4(SYNE1):c.5138A>T (p.Tyr1713Phe)
|
rs2098338003
|
|
|
NM_182961.4(SYNE1):c.5146C>G (p.Leu1716Val)
|
rs202081505
|
|
|
NM_182961.4(SYNE1):c.514G>T (p.Val172Leu)
|
|
|
|
NM_182961.4(SYNE1):c.5163A>C (p.Glu1721Asp)
|
|
|
|
NM_182961.4(SYNE1):c.5165C>T (p.Ser1722Leu)
|
|
|
|
NM_182961.4(SYNE1):c.521C>G (p.Thr174Ser)
|
|
|
|
NM_182961.4(SYNE1):c.5237G>A (p.Trp1746Ter)
|
rs2154194664
|
|
|
NM_182961.4(SYNE1):c.5260A>G (p.Asn1754Asp)
|
rs2154194638
|
|
|
NM_182961.4(SYNE1):c.5287G>A (p.Val1763Met)
|
|
|
|
NM_182961.4(SYNE1):c.5346A>G (p.Lys1782=)
|
rs2098221960
|
|
|
NM_182961.4(SYNE1):c.5412T>A (p.Thr1804=)
|
rs2154186762
|
|
|
NM_182961.4(SYNE1):c.5414G>A (p.Arg1805Gln)
|
rs749200824
|
|
|
NM_182961.4(SYNE1):c.5421+8G>A
|
rs750258642
|
|
|
NM_182961.4(SYNE1):c.5421+9del
|
rs774622835
|
|
|
NM_182961.4(SYNE1):c.5422-7C>G
|
|
|
|
NM_182961.4(SYNE1):c.5424C>T (p.Asp1808=)
|
|
|
|
NM_182961.4(SYNE1):c.5461C>G (p.Gln1821Glu)
|
rs1289357494
|
|
|
NM_182961.4(SYNE1):c.5489T>G (p.Leu1830Trp)
|
rs763296949
|
|
|
NM_182961.4(SYNE1):c.551T>A (p.Leu184Ter)
|
rs1466752822
|
|
|
NM_182961.4(SYNE1):c.5525dup (p.Gln1843fs)
|
rs2154182611
|
|
|
NM_182961.4(SYNE1):c.5539G>A (p.Glu1847Lys)
|
rs778264930
|
|
|
NM_182961.4(SYNE1):c.554T>C (p.Leu185Ser)
|
|
|
|
NM_182961.4(SYNE1):c.5563_5564delinsAT (p.Glu1855Met)
|
rs2154182549
|
|
|
NM_182961.4(SYNE1):c.561G>T (p.Trp187Cys)
|
rs376693048
|
|
|
NM_182961.4(SYNE1):c.5622C>G (p.Leu1874=)
|
rs1481434570
|
|
|
NM_182961.4(SYNE1):c.5639_5652del (p.Leu1880fs)
|
|
|
|
NM_182961.4(SYNE1):c.5655C>G (p.Arg1885=)
|
|
|
|
NM_182961.4(SYNE1):c.5658G>C (p.Gln1886His)
|
rs1305356670
|
|
|
NM_182961.4(SYNE1):c.5675A>G (p.Glu1892Gly)
|
rs757761843
|
|
|
NM_182961.4(SYNE1):c.5686A>C (p.Ser1896Arg)
|
rs989623011
|
|
|
NM_182961.4(SYNE1):c.5706T>C (p.Ser1902=)
|
|
|
|
NM_182961.4(SYNE1):c.5717A>G (p.Glu1906Gly)
|
rs2154182301
|
|
|
NM_182961.4(SYNE1):c.5734G>A (p.Ala1912Thr)
|
|
|
|
NM_182961.4(SYNE1):c.5754A>G (p.Ala1918=)
|
rs1350643988
|
|
|
NM_182961.4(SYNE1):c.578G>A (p.Gly193Asp)
|
rs555846215
|
|
|
NM_182961.4(SYNE1):c.5798C>T (p.Ala1933Val)
|
rs2154182197
|
|
|
NM_182961.4(SYNE1):c.5808T>C (p.His1936=)
|
|
|
|
NM_182961.4(SYNE1):c.5809C>A (p.Leu1937Met)
|
rs1384241452
|
|
|
NM_182961.4(SYNE1):c.580A>G (p.Lys194Glu)
|
|
|
|
NM_182961.4(SYNE1):c.581+13A>G
|
|
|
|
NM_182961.4(SYNE1):c.581+3A>T
|
|
|
|
NM_182961.4(SYNE1):c.581+7A>T
|
|
|
|
NM_182961.4(SYNE1):c.5811G>A (p.Leu1937=)
|
|
|
|
NM_182961.4(SYNE1):c.581A>G (p.Lys194Arg)
|
rs2099078036
|
|
|
NM_182961.4(SYNE1):c.582-12T>C
|
|
|
|
NM_182961.4(SYNE1):c.582-7C>T
|
rs1328050233
|
|
|
NM_182961.4(SYNE1):c.5828A>G (p.Glu1943Gly)
|
rs963256304
|
|
|
NM_182961.4(SYNE1):c.5834G>A (p.Arg1945Lys)
|
|
|
|
NM_182961.4(SYNE1):c.5848G>A (p.Ala1950Thr)
|
|
|
|
NM_182961.4(SYNE1):c.5852C>T (p.Thr1951Met)
|
|
|
|
NM_182961.4(SYNE1):c.5874G>A (p.Glu1958=)
|
rs2098158523
|
|
|
NM_182961.4(SYNE1):c.5883G>A (p.Arg1961=)
|
rs997152435
|
|
|
NM_182961.4(SYNE1):c.5895del (p.Leu1966fs)
|
rs2098158268
|
|
|
NM_182961.4(SYNE1):c.5910G>A (p.Gln1970=)
|
|
|
|
NM_182961.4(SYNE1):c.5935T>C (p.Leu1979=)
|
rs2098157630
|
|
|
NM_182961.4(SYNE1):c.5943A>G (p.Lys1981=)
|
rs1195163643
|
|
|
NM_182961.4(SYNE1):c.5946A>G (p.Ala1982=)
|
|
|
|
NM_182961.4(SYNE1):c.5951A>G (p.Gln1984Arg)
|
|
|
|
NM_182961.4(SYNE1):c.5965G>C (p.Glu1989Gln)
|
rs2098157118
|
|
|
NM_182961.4(SYNE1):c.5966A>G (p.Glu1989Gly)
|
rs762574786
|
|
|
NM_182961.4(SYNE1):c.5981T>C (p.Ile1994Thr)
|
|
|
|
NM_182961.4(SYNE1):c.5990T>C (p.Ile1997Thr)
|
|
|
|
NM_182961.4(SYNE1):c.6014G>A (p.Arg2005Gln)
|
|
|
|
NM_182961.4(SYNE1):c.6014G>T (p.Arg2005Leu)
|
|
|
|
NM_182961.4(SYNE1):c.6032G>C (p.Arg2011Pro)
|
rs1199419170
|
|
|
NM_182961.4(SYNE1):c.6037G>A (p.Ala2013Thr)
|
|
|
|
NM_182961.4(SYNE1):c.6051-13T>C
|
|
|
|
NM_182961.4(SYNE1):c.6051-18T>C
|
|
|
|
NM_182961.4(SYNE1):c.609T>G (p.Phe203Leu)
|
|
|
|
NM_182961.4(SYNE1):c.6105A>G (p.Leu2035=)
|
|
|
|
NM_182961.4(SYNE1):c.611G>A (p.Gly204Glu)
|
|
|
|
NM_182961.4(SYNE1):c.6145G>A (p.Asp2049Asn)
|
rs774941465
|
|
|
NM_182961.4(SYNE1):c.6150A>C (p.Val2050=)
|
|
|
|
NM_182961.4(SYNE1):c.6157G>T (p.Ala2053Ser)
|
rs2154176994
|
|
|
NM_182961.4(SYNE1):c.615G>A (p.Lys205=)
|
rs1594201432
|
|
|
NM_182961.4(SYNE1):c.6162T>A (p.Pro2054=)
|
rs2154176982
|
|
|
NM_182961.4(SYNE1):c.6185G>A (p.Arg2062His)
|
|
|
|
NM_182961.4(SYNE1):c.6185G>T (p.Arg2062Leu)
|
rs542032376
|
|
|
NM_182961.4(SYNE1):c.6191A>G (p.Glu2064Gly)
|
|
|
|
NM_182961.4(SYNE1):c.6193G>C (p.Val2065Leu)
|
|
|
|
NM_182961.4(SYNE1):c.6199T>A (p.Trp2067Arg)
|
|
|
|
NM_182961.4(SYNE1):c.6201G>C (p.Trp2067Cys)
|
rs2154176931
|
|
|
NM_182961.4(SYNE1):c.6202G>A (p.Asp2068Asn)
|
|
|
|
NM_182961.4(SYNE1):c.6225T>C (p.His2075=)
|
|
|
|
NM_182961.4(SYNE1):c.6231T>G (p.Asn2077Lys)
|
rs2097980458
|
|
|
NM_182961.4(SYNE1):c.6234G>A (p.Gln2078=)
|
|
|
|
NM_182961.4(SYNE1):c.624A>G (p.Arg208=)
|
rs2154331618
|
|
|
NM_182961.4(SYNE1):c.6275A>G (p.Gln2092Arg)
|
|
|
|
NM_182961.4(SYNE1):c.6288A>T (p.Ser2096=)
|
rs2154170171
|
|
|
NM_182961.4(SYNE1):c.628G>A (p.Gly210Arg)
|
|
|
|
NM_182961.4(SYNE1):c.6292G>C (p.Val2098Leu)
|
|
|
|
NM_182961.4(SYNE1):c.6294A>G (p.Val2098=)
|
|
|
|
NM_182961.4(SYNE1):c.6332C>T (p.Thr2111Ile)
|
rs760835706
|
|
|
NM_182961.4(SYNE1):c.6349G>A (p.Asp2117Asn)
|
|
|
|
NM_182961.4(SYNE1):c.6349G>T (p.Asp2117Tyr)
|
rs200640405
|
|
|
NM_182961.4(SYNE1):c.6357G>A (p.Glu2119=)
|
|
|
|
NM_182961.4(SYNE1):c.6358G>A (p.Asp2120Asn)
|
|
|
|
NM_182961.4(SYNE1):c.6370G>T (p.Ala2124Ser)
|
|
|
|
NM_182961.4(SYNE1):c.6376del (p.Ser2126fs)
|
rs2154170060
|
|
|
NM_182961.4(SYNE1):c.6398A>G (p.Asn2133Ser)
|
|
|
|
NM_182961.4(SYNE1):c.639del (p.His214fs)
|
rs1412791793
|
|
|
NM_182961.4(SYNE1):c.6415C>A (p.Gln2139Lys)
|
|
|
|
NM_182961.4(SYNE1):c.6421G>T (p.Asp2141Tyr)
|
|
|
|
NM_182961.4(SYNE1):c.6432C>T (p.Asn2144=)
|
|
|
|
NM_182961.4(SYNE1):c.6444A>C (p.Lys2148Asn)
|
|
|
|
NM_182961.4(SYNE1):c.6461C>T (p.Ser2154Phe)
|
|
|
|
NM_182961.4(SYNE1):c.6478C>T (p.His2160Tyr)
|
|
|
|
NM_182961.4(SYNE1):c.647T>C (p.Val216Ala)
|
rs1564513288
|
|
|
NM_182961.4(SYNE1):c.6480C>T (p.His2160=)
|
|
|
|
NM_182961.4(SYNE1):c.6482G>A (p.Ser2161Asn)
|
|
|
|
NM_182961.4(SYNE1):c.6526G>A (p.Asp2176Asn)
|
|
|
|
NM_182961.4(SYNE1):c.6540+14del
|
|
|
|
NM_182961.4(SYNE1):c.6540+18G>A
|
|
|
|
NM_182961.4(SYNE1):c.6555T>C (p.Leu2185=)
|
|
|
|
NM_182961.4(SYNE1):c.6586C>T (p.Leu2196=)
|
|
|
|
NM_182961.4(SYNE1):c.658A>C (p.Ile220Leu)
|
rs146053885
|
|
|
NM_182961.4(SYNE1):c.6606A>G (p.Val2202=)
|
rs2154165470
|
|
|
NM_182961.4(SYNE1):c.661C>A (p.Arg221=)
|
rs750266004
|
|
|
NM_182961.4(SYNE1):c.6628G>T (p.Glu2210Ter)
|
rs1417491327
|
|
|
NM_182961.4(SYNE1):c.6636G>T (p.Trp2212Cys)
|
rs2154165420
|
|
|
NM_182961.4(SYNE1):c.6642C>T (p.Asn2214=)
|
|
|
|
NM_182961.4(SYNE1):c.6645C>T (p.Asn2215=)
|
rs1193871694
|
|
|
NM_182961.4(SYNE1):c.6646T>A (p.Cys2216Ser)
|
|
|
|
NM_182961.4(SYNE1):c.664C>T (p.Pro222Ser)
|
rs2099051828
|
|
|
NM_182961.4(SYNE1):c.6658A>G (p.Met2220Val)
|
rs2097912504
|
|
|
NM_182961.4(SYNE1):c.665C>T (p.Pro222Leu)
|
|
|
|
NM_182961.4(SYNE1):c.6661G>A (p.Ala2221Thr)
|
rs2154165359
|
|
|
NM_182961.4(SYNE1):c.6680T>A (p.Leu2227Gln)
|
|
|
|
NM_182961.4(SYNE1):c.669A>G (p.Glu223=)
|
rs1294047431
|
|
|
NM_182961.4(SYNE1):c.67+2T>A
|
rs762743107
|
|
|
NM_182961.4(SYNE1):c.67+8G>A
|
|
|
|
NM_182961.4(SYNE1):c.6719T>C (p.Phe2240Ser)
|
|
|
|
NM_182961.4(SYNE1):c.6723+20A>G
|
|
|
|
NM_182961.4(SYNE1):c.672G>A (p.Leu224=)
|
rs2099051768
|
|
|
NM_182961.4(SYNE1):c.6738C>A (p.Asn2246Lys)
|
|
|
|
NM_182961.4(SYNE1):c.6745T>C (p.Leu2249=)
|
rs1563754171
|
|
|
NM_182961.4(SYNE1):c.6795T>C (p.Thr2265=)
|
rs2154157073
|
|
|
NM_182961.4(SYNE1):c.6811C>G (p.Pro2271Ala)
|
|
|
|
NM_182961.4(SYNE1):c.6813G>C (p.Pro2271=)
|
|
|
|
NM_182961.4(SYNE1):c.681G>T (p.Leu227Phe)
|
rs867285350
|
|
|
NM_182961.4(SYNE1):c.6825+19C>G
|
|
|
|
NM_182961.4(SYNE1):c.6826-7T>C
|
|
|
|
NM_182961.4(SYNE1):c.6868G>T (p.Glu2290Ter)
|
rs2154151091
|
|
|
NM_182961.4(SYNE1):c.6894C>A (p.Thr2298=)
|
rs1554629711
|
|
|
NM_182961.4(SYNE1):c.6895C>G (p.Leu2299Val)
|
|
|
|
NM_182961.4(SYNE1):c.6897G>A (p.Leu2299=)
|
|
|
|
NM_182961.4(SYNE1):c.6900G>T (p.Lys2300Asn)
|
|
|
|
NM_182961.4(SYNE1):c.6907A>G (p.Thr2303Ala)
|
|
|
|
NM_182961.4(SYNE1):c.6913C>A (p.Gln2305Lys)
|
|
|
|
NM_182961.4(SYNE1):c.6921A>C (p.Thr2307=)
|
rs898678358
|
|
|
NM_182961.4(SYNE1):c.6926T>C (p.Val2309Ala)
|
rs1384232957
|
|
|
NM_182961.4(SYNE1):c.6937A>G (p.Ile2313Val)
|
rs2154150998
|
|
|
NM_182961.4(SYNE1):c.6944A>G (p.Asp2315Gly)
|
rs1395736433
|
|
|
NM_182961.4(SYNE1):c.6959T>C (p.Phe2320Ser)
|
rs2097810439
|
|
|
NM_182961.4(SYNE1):c.696C>A (p.Gly232=)
|
|
|
|
NM_182961.4(SYNE1):c.6975A>G (p.Glu2325=)
|
|
|
|
NM_182961.4(SYNE1):c.6975A>T (p.Glu2325Asp)
|
|
|
|
NM_182961.4(SYNE1):c.6978G>A (p.Ser2326=)
|
|
|
|
NM_182961.4(SYNE1):c.6982A>G (p.Met2328Val)
|
rs1250755900
|
|
|
NM_182961.4(SYNE1):c.6983T>C (p.Met2328Thr)
|
rs1317403604
|
|
|
NM_182961.4(SYNE1):c.69T>A (p.Asp23Glu)
|
rs1564735123
|
|
|
NM_182961.4(SYNE1):c.7017G>A (p.Leu2339=)
|
|
|
|
NM_182961.4(SYNE1):c.7023A>T (p.Lys2341Asn)
|
|
|
|
NM_182961.4(SYNE1):c.7029+18A>G
|
|
|
|
NM_182961.4(SYNE1):c.7030-14C>G
|
|
|
|
NM_182961.4(SYNE1):c.7032T>C (p.Asp2344=)
|
|
|
|
NM_182961.4(SYNE1):c.7041A>G (p.Lys2347=)
|
rs1035633192
|
|
|
NM_182961.4(SYNE1):c.706C>T (p.Arg236Ter)
|
rs2154331501
|
|
|
NM_182961.4(SYNE1):c.707G>A (p.Arg236Gln)
|
|
|
|
NM_182961.4(SYNE1):c.7091A>G (p.Asn2364Ser)
|
rs776339735
|
|
|
NM_182961.4(SYNE1):c.7104C>G (p.Arg2368=)
|
|
|
|
NM_182961.4(SYNE1):c.7109A>G (p.Tyr2370Cys)
|
|
|
|
NM_182961.4(SYNE1):c.7110C>T (p.Tyr2370=)
|
|
|
|
NM_182961.4(SYNE1):c.7131C>T (p.Ser2377=)
|
|
|
|
NM_182961.4(SYNE1):c.7141G>T (p.Ala2381Ser)
|
rs766789322
|
|
|
NM_182961.4(SYNE1):c.7156A>T (p.Ile2386Leu)
|
|
|
|
NM_182961.4(SYNE1):c.7165C>T (p.His2389Tyr)
|
|
|
|
NM_182961.4(SYNE1):c.7181A>C (p.Gln2394Pro)
|
rs1244195756
|
|
|
NM_182961.4(SYNE1):c.7201G>A (p.Ala2401Thr)
|
rs780924006
|
|
|
NM_182961.4(SYNE1):c.7237+14G>A
|
|
|
|
NM_182961.4(SYNE1):c.7237+17del
|
|
|
|
NM_182961.4(SYNE1):c.7238-9T>C
|
rs1591882273
|
|
|
NM_182961.4(SYNE1):c.723T>C (p.Asp241=)
|
|
|
|
NM_182961.4(SYNE1):c.7261T>C (p.Trp2421Arg)
|
|
|
|
NM_182961.4(SYNE1):c.7280C>T (p.Ala2427Val)
|
rs2097770762
|
|
|
NM_182961.4(SYNE1):c.7284A>C (p.Ala2428=)
|
rs886043162
|
|
|
NM_182961.4(SYNE1):c.7296A>G (p.Ser2432=)
|
|
|
|
NM_182961.4(SYNE1):c.7303C>G (p.Arg2435Gly)
|
rs370082646
|
|
|
NM_182961.4(SYNE1):c.7312G>T (p.Asp2438Tyr)
|
|
|
|
NM_182961.4(SYNE1):c.7334A>C (p.Lys2445Thr)
|
rs2154145830
|
|
|
NM_182961.4(SYNE1):c.7335G>C (p.Lys2445Asn)
|
rs770329883
|
|
|
NM_182961.4(SYNE1):c.7345C>T (p.Leu2449Phe)
|
rs757562714
|
|
|
NM_182961.4(SYNE1):c.7350+15A>T
|
|
|
|
NM_182961.4(SYNE1):c.735C>T (p.Ile245=)
|
|
|
|
NM_182961.4(SYNE1):c.7365A>G (p.Ser2455=)
|
rs761520305
|
|
|
NM_182961.4(SYNE1):c.7392T>G (p.Asp2464Glu)
|
|
|
|
NM_182961.4(SYNE1):c.739G>A (p.Glu247Lys)
|
|
|
|
NM_182961.4(SYNE1):c.7402C>G (p.Gln2468Glu)
|
rs1384323646
|
|
|
NM_182961.4(SYNE1):c.7402C>T (p.Gln2468Ter)
|
|
|
|
NM_182961.4(SYNE1):c.7406A>G (p.Glu2469Gly)
|
rs371796151
|
|
|
NM_182961.4(SYNE1):c.742A>G (p.Thr248Ala)
|
rs2154331462
|
|
|
NM_182961.4(SYNE1):c.7462C>G (p.Gln2488Glu)
|
rs756083446
|
|
|
NM_182961.4(SYNE1):c.7488T>C (p.Phe2496=)
|
|
|
|
NM_182961.4(SYNE1):c.7494A>G (p.Ala2498=)
|
|
|
|
NM_182961.4(SYNE1):c.7502A>C (p.Lys2501Thr)
|
|
|
|
NM_182961.4(SYNE1):c.7550T>A (p.Leu2517His)
|
|
|
|
NM_182961.4(SYNE1):c.7556+15C>T
|
|
|
|
NM_182961.4(SYNE1):c.7557-18G>A
|
|
|
|
NM_182961.4(SYNE1):c.7569G>A (p.Gln2523=)
|
|
|
|
NM_182961.4(SYNE1):c.756C>A (p.Ile252=)
|
rs1241383804
|
|
|
NM_182961.4(SYNE1):c.7593C>T (p.Ile2531=)
|
rs201679896
|
|
|
NM_182961.4(SYNE1):c.7619C>T (p.Thr2540Met)
|
rs550027519
|
|
|
NM_182961.4(SYNE1):c.7644G>C (p.Gln2548His)
|
rs2097719630
|
|
|
NM_182961.4(SYNE1):c.7666G>A (p.Glu2556Lys)
|
rs2154141021
|
|
|
NM_182961.4(SYNE1):c.7672C>A (p.His2558Asn)
|
rs2097719253
|
|
|
NM_182961.4(SYNE1):c.7685T>C (p.Met2562Thr)
|
|
|
|
NM_182961.4(SYNE1):c.7691T>A (p.Leu2564Ter)
|
|
|
|
NM_182961.4(SYNE1):c.7707T>C (p.Ala2569=)
|
|
|
|
NM_182961.4(SYNE1):c.7709C>G (p.Ala2570Gly)
|
|
|
|
NM_182961.4(SYNE1):c.7713-10T>C
|
rs2154134126
|
|
|
NM_182961.4(SYNE1):c.7713-11C>T
|
rs201131946
|
|
|
NM_182961.4(SYNE1):c.7713-12_7713-11del
|
|
|
|
NM_182961.4(SYNE1):c.7713-12_7713-11insTTTTTTTT
|
|
|
|
NM_182961.4(SYNE1):c.7713-13_7713-12insTTTTTTC
|
|
|
|
NM_182961.4(SYNE1):c.7713-17_7713-13dup
|
|
|
|
NM_182961.4(SYNE1):c.7713-17_7713-16insTTTTTTC
|
|
|
|
NM_182961.4(SYNE1):c.7713-18_7713-17insTTTTTC
|
rs1554611398
|
|
|
NM_182961.4(SYNE1):c.7713-18_7713-17insTTTTTTC
|
rs746802599
|
|
|
NM_182961.4(SYNE1):c.7713-18_7713-17insTTTTTTTC
|
rs2097634535
|
|
|
NM_182961.4(SYNE1):c.7713-19_7713-18insTTTTTTC
|
rs781073860
|
|
|
NM_182961.4(SYNE1):c.7713-23_7713-13dup
|
rs756232172
|
|
|
NM_182961.4(SYNE1):c.7713-4T>A
|
rs571742202
|
|
|
NM_182961.4(SYNE1):c.7713-5T>C
|
rs893217390
|
|
|
NM_182961.4(SYNE1):c.7719T>G (p.Ser2573=)
|
|
|
|
NM_182961.4(SYNE1):c.7724A>T (p.Asp2575Val)
|
rs1382595953
|
|
|
NM_182961.4(SYNE1):c.7754G>C (p.Ser2585Thr)
|
|
|
|
NM_182961.4(SYNE1):c.7778A>T (p.Gln2593Leu)
|
rs761902124
|
|
|
NM_182961.4(SYNE1):c.778+12A>G
|
|
|
|
NM_182961.4(SYNE1):c.778+13T>G
|
rs775117869
|
|
|
NM_182961.4(SYNE1):c.778+17T>C
|
rs2154331395
|
|
|
NM_182961.4(SYNE1):c.7781A>G (p.Glu2594Gly)
|
rs1591742558
|
|
|
NM_182961.4(SYNE1):c.779-11T>C
|
|
|
|
NM_182961.4(SYNE1):c.779-11dup
|
rs769649801
|
|
|
NM_182961.4(SYNE1):c.779-17C>A
|
|
|
|
NM_182961.4(SYNE1):c.779-4dup
|
rs567435072
|
|
|
NM_182961.4(SYNE1):c.7801C>G (p.Leu2601Val)
|
|
|
|
NM_182961.4(SYNE1):c.7814A>G (p.His2605Arg)
|
rs2097627280
|
|
|
NM_182961.4(SYNE1):c.7853G>A (p.Ser2618Asn)
|
|
|
|
NM_182961.4(SYNE1):c.7858C>A (p.Gln2620Lys)
|
|
|
|
NM_182961.4(SYNE1):c.7866C>G (p.Ala2622=)
|
|
|
|
NM_182961.4(SYNE1):c.7870C>G (p.Gln2624Glu)
|
|
|
|
NM_182961.4(SYNE1):c.7878C>A (p.His2626Gln)
|
|
|
|
NM_182961.4(SYNE1):c.7885C>G (p.Leu2629Val)
|
|
|
|
NM_182961.4(SYNE1):c.7946G>C (p.Cys2649Ser)
|
|
|
|
NM_182961.4(SYNE1):c.7951G>A (p.Glu2651Lys)
|
rs147040672
|
|
|
NM_182961.4(SYNE1):c.7965G>A (p.Gly2655=)
|
|
|
|
NM_182961.4(SYNE1):c.7971A>G (p.Lys2657=)
|
|
|
|
NM_182961.4(SYNE1):c.7977C>A (p.Thr2659=)
|
rs1032522783
|
|
|
NM_182961.4(SYNE1):c.7980G>A (p.Leu2660=)
|
|
|
|
NM_182961.4(SYNE1):c.7988G>A (p.Arg2663Gln)
|
rs370644295
|
|
|
NM_182961.4(SYNE1):c.7996C>A (p.Gln2666Lys)
|
rs577888458
|
|
|
NM_182961.4(SYNE1):c.8003A>G (p.Gln2668Arg)
|
rs2154133685
|
|
|
NM_182961.4(SYNE1):c.8004+16G>A
|
|
|
|
NM_182961.4(SYNE1):c.8004+8C>T
|
|
|
|
NM_182961.4(SYNE1):c.8005-7_8005-6insA
|
|
|
|
NM_182961.4(SYNE1):c.8014C>G (p.Leu2672Val)
|
rs1563634104
|
|
|
NM_182961.4(SYNE1):c.8025T>G (p.Gly2675=)
|
|
|
|
NM_182961.4(SYNE1):c.8051C>T (p.Ala2684Val)
|
|
|
|
NM_182961.4(SYNE1):c.8063G>A (p.Gly2688Glu)
|
|
|
|
NM_182961.4(SYNE1):c.8065G>C (p.Glu2689Gln)
|
|
|
|
NM_182961.4(SYNE1):c.8068C>T (p.Gln2690Ter)
|
|
|
|
NM_182961.4(SYNE1):c.8069A>C (p.Gln2690Pro)
|
rs1591716331
|
|
|
NM_182961.4(SYNE1):c.8098C>G (p.Gln2700Glu)
|
rs2097590125
|
|
|
NM_182961.4(SYNE1):c.8147A>G (p.Asp2716Gly)
|
|
|
|
NM_182961.4(SYNE1):c.8151C>G (p.Ile2717Met)
|
|
|
|
NM_182961.4(SYNE1):c.8152A>G (p.Met2718Val)
|
rs765054617
|
|
|
NM_182961.4(SYNE1):c.8172T>C (p.Ala2724=)
|
|
|
|
NM_182961.4(SYNE1):c.8177+12A>G
|
|
|
|
NM_182961.4(SYNE1):c.8204G>T (p.Trp2735Leu)
|
|
|
|
NM_182961.4(SYNE1):c.8210A>G (p.Asp2737Gly)
|
rs886044469
|
|
|
NM_182961.4(SYNE1):c.8214T>C (p.Tyr2738=)
|
rs561155086
|
|
|
NM_182961.4(SYNE1):c.821A>G (p.Tyr274Cys)
|
rs2099036274
|
|
|
NM_182961.4(SYNE1):c.8248G>A (p.Glu2750Lys)
|
|
|
|
NM_182961.4(SYNE1):c.8276C>T (p.Pro2759Leu)
|
rs1438857220
|
|
|
NM_182961.4(SYNE1):c.8285C>A (p.Pro2762Gln)
|
|
|
|
NM_182961.4(SYNE1):c.8287C>T (p.Gln2763Ter)
|
rs946657984
|
|
|
NM_182961.4(SYNE1):c.8310C>T (p.Phe2770=)
|
rs749172868
|
|
|
NM_182961.4(SYNE1):c.8325C>A (p.His2775Gln)
|
rs770073509
|
|
|
NM_182961.4(SYNE1):c.8328C>G (p.Leu2776=)
|
|
|
|
NM_182961.4(SYNE1):c.832T>A (p.Phe278Ile)
|
|
|
|
NM_182961.4(SYNE1):c.8360C>G (p.Thr2787Arg)
|
|
|
|
NM_182961.4(SYNE1):c.8389T>G (p.Ser2797Ala)
|
|
|
|
NM_182961.4(SYNE1):c.8394G>A (p.Arg2798=)
|
rs1212269934
|
|
|
NM_182961.4(SYNE1):c.83T>G (p.Val28Gly)
|
rs1554878579
|
|
|
NM_182961.4(SYNE1):c.8412A>G (p.Thr2804=)
|
rs1352615188
|
|
|
NM_182961.4(SYNE1):c.8415G>A (p.Glu2805=)
|
rs200537411
|
|
|
NM_182961.4(SYNE1):c.8470A>T (p.Ile2824Leu)
|
|
|
|
NM_182961.4(SYNE1):c.8487+6T>C
|
rs2097536510
|
|
|
NM_182961.4(SYNE1):c.8488-15T>C
|
rs754541640
|
|
|
NM_182961.4(SYNE1):c.8531T>A (p.Met2844Lys)
|
rs577620830
|
|
|
NM_182961.4(SYNE1):c.8543C>T (p.Ala2848Val)
|
|
|
|
NM_182961.4(SYNE1):c.8555T>A (p.Phe2852Tyr)
|
|
|
|
NM_182961.4(SYNE1):c.8559A>G (p.Thr2853=)
|
rs2154124074
|
|
|
NM_182961.4(SYNE1):c.8570A>G (p.His2857Arg)
|
|
|
|
NM_182961.4(SYNE1):c.8580G>A (p.Lys2860=)
|
rs2154124018
|
|
|
NM_182961.4(SYNE1):c.8593C>G (p.Arg2865Gly)
|
rs757720748
|
|
|
NM_182961.4(SYNE1):c.8594G>A (p.Arg2865Gln)
|
|
|
|
NM_182961.4(SYNE1):c.8595G>C (p.Arg2865=)
|
|
|
|
NM_182961.4(SYNE1):c.8609C>T (p.Ser2870Phe)
|
rs2097516831
|
|
|
NM_182961.4(SYNE1):c.8636del (p.Lys2879fs)
|
rs2097516516
|
|
|
NM_182961.4(SYNE1):c.8640A>G (p.Leu2880=)
|
|
|
|
NM_182961.4(SYNE1):c.8652+3C>T
|
|
|
|
NM_182961.4(SYNE1):c.8652+9A>T
|
|
|
|
NM_182961.4(SYNE1):c.8653-17G>A
|
|
|
|
NM_182961.4(SYNE1):c.8657T>A (p.Leu2886Gln)
|
|
|
|
NM_182961.4(SYNE1):c.8663A>T (p.Asp2888Val)
|
rs1184722528
|
|
|
NM_182961.4(SYNE1):c.8701G>A (p.Glu2901Lys)
|
|
|
|
NM_182961.4(SYNE1):c.8705C>G (p.Ser2902Trp)
|
rs576979843
|
|
|
NM_182961.4(SYNE1):c.8706G>A (p.Ser2902=)
|
|
|
|
NM_182961.4(SYNE1):c.870T>C (p.Thr290=)
|
|
|
|
NM_182961.4(SYNE1):c.8715C>T (p.Pro2905=)
|
|
|
|
NM_182961.4(SYNE1):c.8719G>T (p.Val2907Leu)
|
|
|
|
NM_182961.4(SYNE1):c.8730C>T (p.Asn2910=)
|
rs1591551475
|
|
|
NM_182961.4(SYNE1):c.8754C>T (p.Leu2918=)
|
|
|
|
NM_182961.4(SYNE1):c.8773G>T (p.Ala2925Ser)
|
|
|
|
NM_182961.4(SYNE1):c.8779C>G (p.Arg2927Gly)
|
rs372633466
|
|
|
NM_182961.4(SYNE1):c.8779C>T (p.Arg2927Cys)
|
rs372633466
|
|
|
NM_182961.4(SYNE1):c.8789G>A (p.Trp2930Ter)
|
rs2154115529
|
|
|
NM_182961.4(SYNE1):c.8819C>T (p.Thr2940Met)
|
|
|
|
NM_182961.4(SYNE1):c.8825G>C (p.Ser2942Thr)
|
rs2154115485
|
|
|
NM_182961.4(SYNE1):c.8838C>T (p.Asn2946=)
|
rs2154115463
|
|
|
NM_182961.4(SYNE1):c.888+2T>C
|
|
|
|
NM_182961.4(SYNE1):c.888+4G>A
|
rs749258298
|
|
|
NM_182961.4(SYNE1):c.888+9T>C
|
|
|
|
NM_182961.4(SYNE1):c.8883A>G (p.Gln2961=)
|
|
|
|
NM_182961.4(SYNE1):c.8884G>C (p.Val2962Leu)
|
rs2097406538
|
|
|
NM_182961.4(SYNE1):c.8885del (p.Val2962fs)
|
rs750544827
|
|
|
NM_182961.4(SYNE1):c.8888C>A (p.Ala2963Asp)
|
rs570962334
|
|
|
NM_182961.4(SYNE1):c.8893C>T (p.Leu2965=)
|
|
|
|
NM_182961.4(SYNE1):c.8914T>A (p.Phe2972Ile)
|
|
|
|
NM_182961.4(SYNE1):c.892A>G (p.Ile298Val)
|
rs2154319036
|
|
|
NM_182961.4(SYNE1):c.8957T>C (p.Leu2986Pro)
|
|
|
|
NM_182961.4(SYNE1):c.8983A>T (p.Ile2995Leu)
|
|
|
|
NM_182961.4(SYNE1):c.898C>T (p.Pro300Ser)
|
|
|
|
NM_182961.4(SYNE1):c.9006A>G (p.Gly3002=)
|
|
|
|
NM_182961.4(SYNE1):c.9009+5G>T
|
rs1252397404
|
|
|
NM_182961.4(SYNE1):c.9016C>G (p.Leu3006Val)
|
|
|
|
NM_182961.4(SYNE1):c.9052G>T (p.Asp3018Tyr)
|
rs910446340
|
|
|
NM_182961.4(SYNE1):c.9082C>A (p.Arg3028=)
|
rs369163343
|
|
|
NM_182961.4(SYNE1):c.9083G>A (p.Arg3028Gln)
|
|
|
|
NM_182961.4(SYNE1):c.9124G>A (p.Gly3042Ser)
|
rs1554580101
|
|
|
NM_182961.4(SYNE1):c.9147-15G>T
|
|
|
|
NM_182961.4(SYNE1):c.9160G>A (p.Ala3054Thr)
|
rs2154103548
|
|
|
NM_182961.4(SYNE1):c.916G>A (p.Ala306Thr)
|
|
|
|
NM_182961.4(SYNE1):c.9170G>T (p.Gly3057Val)
|
rs761071366
|
|
|
NM_182961.4(SYNE1):c.9177G>A (p.Gln3059=)
|
|
|
|
NM_182961.4(SYNE1):c.9178A>G (p.Asn3060Asp)
|
|
|
|
NM_182961.4(SYNE1):c.9183A>G (p.Lys3061=)
|
|
|
|
NM_182961.4(SYNE1):c.9209G>A (p.Arg3070Gln)
|
|
|
|
NM_182961.4(SYNE1):c.9214G>A (p.Ala3072Thr)
|
|
|
|
NM_182961.4(SYNE1):c.9243T>A (p.Val3081=)
|
|
|
|
NM_182961.4(SYNE1):c.9250A>G (p.Lys3084Glu)
|
rs1391282600
|
|
|
NM_182961.4(SYNE1):c.9261C>A (p.Thr3087=)
|
|
|
|
NM_182961.4(SYNE1):c.9289A>G (p.Ile3097Val)
|
rs2154103329
|
|
|
NM_182961.4(SYNE1):c.9304A>C (p.Thr3102Pro)
|
|
|
|
NM_182961.4(SYNE1):c.9309T>C (p.Ser3103=)
|
|
|
|
NM_182961.4(SYNE1):c.9319del (p.Ile3107fs)
|
|
|
|
NM_182961.4(SYNE1):c.9324+20A>T
|
|
|
|
NM_182961.4(SYNE1):c.9324+7G>T
|
rs2097282528
|
|
|
NM_182961.4(SYNE1):c.9325-10T>C
|
|
|
|
NM_182961.4(SYNE1):c.9325-4A>G
|
rs1444975317
|
|
|
NM_182961.4(SYNE1):c.9333G>T (p.Leu3111Phe)
|
|
|
|
NM_182961.4(SYNE1):c.9337G>C (p.Glu3113Gln)
|
rs2154097171
|
|
|
NM_182961.4(SYNE1):c.9347A>T (p.Asn3116Ile)
|
|
|
|
NM_182961.4(SYNE1):c.9357C>T (p.His3119=)
|
|
|
|
NM_182961.4(SYNE1):c.9374T>C (p.Leu3125Pro)
|
rs1563477104
|
|
|
NM_182961.4(SYNE1):c.9375G>C (p.Leu3125=)
|
rs376622495
|
|
|
NM_182961.4(SYNE1):c.9382G>A (p.Gly3128Arg)
|
|
|
|
NM_182961.4(SYNE1):c.9389T>A (p.Leu3130His)
|
|
|
|
NM_182961.4(SYNE1):c.939+14A>T
|
rs531123529
|
|
|
NM_182961.4(SYNE1):c.939+15A>C
|
|
|
|
NM_182961.4(SYNE1):c.9394A>T (p.Ser3132Cys)
|
rs138481762
|
|
|
NM_182961.4(SYNE1):c.9411A>G (p.Lys3137=)
|
rs975537862
|
|
|
NM_182961.4(SYNE1):c.9417A>G (p.Lys3139=)
|
|
|
|
NM_182961.4(SYNE1):c.941G>T (p.Arg314Ile)
|
rs1554795128
|
|
|
NM_182961.4(SYNE1):c.9449C>G (p.Ala3150Gly)
|
|
|
|
NM_182961.4(SYNE1):c.9450A>G (p.Ala3150=)
|
|
|
|
NM_182961.4(SYNE1):c.9469T>C (p.Phe3157Leu)
|
|
|
|
NM_182961.4(SYNE1):c.946G>A (p.Asp316Asn)
|
rs369574011
|
|
|
NM_182961.4(SYNE1):c.9480T>C (p.Asn3160=)
|
|
|
|
NM_182961.4(SYNE1):c.9483C>T (p.Leu3161=)
|
rs778123025
|
|
|
NM_182961.4(SYNE1):c.9484C>T (p.His3162Tyr)
|
|
|
|
NM_182961.4(SYNE1):c.9494_9495delinsTG (p.Glu3165Val)
|
|
|
|
NM_182961.4(SYNE1):c.9495A>C (p.Glu3165Asp)
|
rs6913579
|
|
|
NM_182961.4(SYNE1):c.9495A>G (p.Glu3165=)
|
rs6913579
|
|
|
NM_182961.4(SYNE1):c.9507+7A>G
|
|
|
|
NM_182961.4(SYNE1):c.9508-12A>G
|
|
|
|
NM_182961.4(SYNE1):c.9508-16A>G
|
|
|
|
NM_182961.4(SYNE1):c.9508-20C>T
|
|
|
|
NM_182961.4(SYNE1):c.9514A>G (p.Lys3172Glu)
|
rs2154085901
|
|
|
NM_182961.4(SYNE1):c.9524T>C (p.Met3175Thr)
|
|
|
|
NM_182961.4(SYNE1):c.9543T>G (p.Ser3181Arg)
|
|
|
|
NM_182961.4(SYNE1):c.9544_9545delinsAA (p.Ala3182Asn)
|
rs1057519421
|
|
|
NM_182961.4(SYNE1):c.955A>G (p.Ile319Val)
|
|
|
|
NM_182961.4(SYNE1):c.9572A>T (p.Lys3191Ile)
|
rs1563437567
|
|
|
NM_182961.4(SYNE1):c.9586G>A (p.Val3196Ile)
|
|
|
|
NM_182961.4(SYNE1):c.9596G>T (p.Ser3199Ile)
|
rs768692140
|
|
|
NM_182961.4(SYNE1):c.9609C>T (p.Leu3203=)
|
rs1591297339
|
|
|
NM_182961.4(SYNE1):c.9612T>C (p.Tyr3204=)
|
rs1030698096
|
|
|
NM_182961.4(SYNE1):c.9634G>A (p.Glu3212Lys)
|
|
|
|
NM_182961.4(SYNE1):c.9634G>C (p.Glu3212Gln)
|
rs751257864
|
|
|
NM_182961.4(SYNE1):c.9645G>A (p.Lys3215=)
|
|
|
|
NM_182961.4(SYNE1):c.9649C>A (p.Gln3217Lys)
|
rs2154085638
|
|
|
NM_182961.4(SYNE1):c.9651+15T>G
|
|
|
|
NM_182961.4(SYNE1):c.9652-15G>T
|
|
|
|
NM_182961.4(SYNE1):c.9652-18C>T
|
|
|
|
NM_182961.4(SYNE1):c.9652-8C>T
|
|
|
|
NM_182961.4(SYNE1):c.9670C>G (p.His3224Asp)
|
|
|
|
NM_182961.4(SYNE1):c.9676T>C (p.Tyr3226His)
|
|
|
|
NM_182961.4(SYNE1):c.9682C>T (p.Pro3228Ser)
|
rs1563432555
|
|
|
NM_182961.4(SYNE1):c.9695G>A (p.Arg3232Lys)
|
|
|
|
NM_182961.4(SYNE1):c.9697C>T (p.Leu3233=)
|
|
|
|
NM_182961.4(SYNE1):c.9715C>G (p.Gln3239Glu)
|
rs149901087
|
|
|
NM_182961.4(SYNE1):c.9733G>T (p.Ala3245Ser)
|
rs753548717
|
|
|
NM_182961.4(SYNE1):c.9744G>A (p.Lys3248=)
|
rs2097133437
|
|
|
NM_182961.4(SYNE1):c.9746G>A (p.Ser3249Asn)
|
rs886061206
|
|
|
NM_182961.4(SYNE1):c.9765G>T (p.Ser3255=)
|
rs759631028
|
|
|
NM_182961.4(SYNE1):c.9808-16T>C
|
|
|
|
NM_182961.4(SYNE1):c.9822A>G (p.Arg3274=)
|
|
|
|
NM_182961.4(SYNE1):c.9847A>T (p.Asn3283Tyr)
|
rs745707616
|
|
|
NM_182961.4(SYNE1):c.9864G>A (p.Gly3288=)
|
rs1591250414
|
|
|
NM_182961.4(SYNE1):c.9864G>C (p.Gly3288=)
|
|
|
|
NM_182961.4(SYNE1):c.9897G>A (p.Ala3299=)
|
rs184006845
|
|
|
NM_182961.4(SYNE1):c.9903C>T (p.His3301=)
|
rs767709050
|
|
|
NM_182961.4(SYNE1):c.9925C>A (p.Pro3309Thr)
|
rs1247321590
|
|
|
NM_182961.4(SYNE1):c.9966G>A (p.Lys3322=)
|
|
|
|
NM_182961.4(SYNE1):c.9978A>G (p.Leu3326=)
|
rs1286630366
|
|
|
NM_182961.4(SYNE1):c.998A>G (p.Asp333Gly)
|
rs2154300492
|
|
|
NM_182961.4(SYNE1):c.9990A>G (p.Lys3330=)
|
|
|
|
Single allele
|
|
|