NM_005751.5(AKAP9):c.8935C>T (p.Pro2979Ser)
|
rs1063242
|
0.99690
|
NM_000719.7(CACNA1C):c.50-327C>G
|
rs4765896
|
0.99675
|
NM_000719.7(CACNA1C):c.1895+304A>G
|
rs1548732
|
0.98983
|
NM_000890.5(KCNJ5):c.844C>G (p.Gln282Glu)
|
rs7102584
|
0.98759
|
NM_000719.7(CACNA1C):c.2853+265G>C
|
rs215983
|
0.94615
|
NM_000719.7(CACNA1C):c.4141-312G>A
|
rs216046
|
0.94005
|
NM_000719.7(CACNA1C):c.1481+897C>G
|
rs1034934
|
0.92301
|
NM_000719.7(CACNA1C):c.6117+206G>A
|
rs7956107
|
0.91563
|
NM_005751.5(AKAP9):c.3075C>T (p.Thr1025=)
|
rs1989779
|
0.90157
|
NM_022114.4(PRDM16):c.1597T>C (p.Ser533Pro)
|
rs870124
|
0.89071
|
NM_000719.7(CACNA1C):c.1508+317C>T
|
rs2370598
|
0.88631
|
NM_000719.7(CACNA1C):c.1508+316G>A
|
rs2370597
|
0.88628
|
NM_000890.5(KCNJ5):c.171T>C (p.Ser57=)
|
rs6590357
|
0.84812
|
NM_000890.5(KCNJ5):c.834T>C (p.His278=)
|
rs7118833
|
0.84299
|
NM_000890.5(KCNJ5):c.810T>G (p.Leu270=)
|
rs7118824
|
0.84187
|
NM_001276345.2(TNNT2):c.163+120T>C
|
rs3729842
|
0.84150
|
NM_000719.7(CACNA1C):c.1670-52C>T
|
rs2370602
|
0.82155
|
NM_000218.3(KCNQ1):c.477+4901A>G
|
rs179436
|
0.79915
|
NM_000719.7(CACNA1C):c.5681-77C>T
|
rs2270373
|
0.79539
|
NM_000719.7(CACNA1C):c.4727-231T>C
|
rs7136355
|
0.76028
|
NM_000890.5(KCNJ5):c.938-10G>A
|
rs4937391
|
0.74403
|
NM_000719.7(CACNA1C):c.3945+83T>C
|
rs2239127
|
0.70394
|
NM_000719.7(CACNA1C):c.4828+164T>C
|
rs2302729
|
0.70353
|
NM_000719.7(CACNA1C):c.3945+96T>C
|
rs2239128
|
0.70345
|
NM_000238.4(KCNH2):c.1956T>C (p.Tyr652=)
|
rs1137617
|
0.70278
|
NM_001276345.2(TNNT2):c.348C>T (p.Ile116=)
|
rs3729547
|
0.69444
|
NM_000719.7(CACNA1C):c.3945+109C>T
|
rs2239129
|
0.68534
|
NM_000719.7(CACNA1C):c.1508+205A>G
|
rs2370596
|
0.65274
|
NM_145054.5(CFAP52):c.1006G>A (p.Glu336Lys)
|
rs6503235
|
0.64676
|
NM_000719.7(CACNA1C):c.4399-79C>A
|
rs2302728
|
0.61634
|
NM_001308093.3(GATA4):c.1000+56C>A
|
rs804280
|
0.61291
|
NM_000719.7(CACNA1C):c.50-162C>G
|
rs2299661
|
0.61134
|
NM_000719.7(CACNA1C):c.1896-54G>A
|
rs11832738
|
0.60150
|
NM_000719.7(CACNA1C):c.2103+297C>G
|
rs2071641
|
0.59594
|
NM_000719.7(CACNA1C):c.1391-2222T>G
|
rs10848674
|
0.59459
|
NM_000719.7(CACNA1C):c.5361G>A (p.Thr1787=)
|
rs1051375
|
0.57002
|
NM_018055.5(NODAL):c.494A>G (p.His165Arg)
|
rs1904589
|
0.56006
|
NM_000719.7(CACNA1C):c.4233-136G>A
|
rs7315556
|
0.55808
|
NM_001106.4(ACVR2B):c.333A>G (p.Glu111=)
|
rs2070489
|
0.51926
|
NM_000218.3(KCNQ1):c.386+32464G>A
|
rs757092
|
0.51306
|
NM_000238.4(KCNH2):c.1692A>G (p.Leu564=)
|
rs1805121
|
0.51247
|
NM_000719.7(CACNA1C):c.477+154409T>G
|
rs2238057
|
0.50852
|
NM_000719.7(CACNA1C):c.1114-487A>G
|
rs1008832
|
0.50604
|
NM_000219.6(KCNE1):c.*1219A>G
|
rs11909074
|
0.50320
|
NM_005751.5(AKAP9):c.5163-20G>A
|
rs9785013
|
0.46162
|
NM_001148.6(ANK2):c.85-57714A>G
|
rs2220208
|
0.46005
|
NM_005751.5(AKAP9):c.4004_4006dup (p.Lys1335_Leu1336insGln)
|
rs10644111
|
0.45670
|
NM_004387.4(NKX2-5):c.63A>G (p.Glu21=)
|
rs2277923
|
0.44081
|
NM_001106.4(ACVR2B):c.811-13T>C
|
rs13097628
|
0.42596
|
NM_005751.5(AKAP9):c.10426A>C (p.Arg3476=)
|
rs1063243
|
0.42386
|
NM_001106.4(ACVR2B):c.1458C>T (p.Asn486=)
|
rs1046048
|
0.42251
|
NM_005751.5(AKAP9):c.8665C>T (p.Leu2889=)
|
rs10228334
|
0.42044
|
NM_005751.5(AKAP9):c.3504A>G (p.Glu1168=)
|
rs13245393
|
0.42036
|
NM_005751.5(AKAP9):c.1389G>T (p.Met463Ile)
|
rs6964587
|
0.41920
|
NM_000719.7(CACNA1C):c.617+286T>C
|
rs4765682
|
0.41807
|
NM_005751.5(AKAP9):c.6945+8C>T
|
rs733957
|
0.40759
|
NM_005751.5(AKAP9):c.5778C>T (p.Gly1926=)
|
rs10236397
|
0.40488
|
NM_022114.4(PRDM16):c.439-12109T>C
|
rs6688949
|
0.38547
|
NM_000719.7(CACNA1C):c.917-177G>A
|
rs1541452
|
0.38280
|
NM_000218.3(KCNQ1):c.*875A>G
|
rs8234
|
0.38150
|
NM_000218.3(KCNQ1):c.*932A>G
|
rs10798
|
0.37559
|
NM_001386795.1(DTNA):c.1743+14G>A
|
rs1617318
|
0.37431
|
NM_001308093.3(GATA4):c.1001-269G>T
|
rs4841587
|
0.36715
|
NM_000719.7(CACNA1C):c.477+119988G>C
|
rs4765905
|
0.36354
|
NM_033337.3(CAV3):c.99C>T (p.Asn33=)
|
rs1008642
|
0.35756
|
NM_018055.5(NODAL):c.193+12C>T
|
rs10999338
|
0.35409
|
NM_000719.7(CACNA1C):c.3946-298G>A
|
rs216044
|
0.34322
|
NM_005751.5(AKAP9):c.8375A>G (p.Asn2792Ser)
|
rs6960867
|
0.33817
|
NM_005751.5(AKAP9):c.9145C>T (p.Leu3049=)
|
rs28927678
|
0.33792
|
NM_000719.7(CACNA1C):c.1114-679A>G
|
rs11608740
|
0.33415
|
NM_145020.5(CFAP53):c.778-12A>T
|
rs920791
|
0.32055
|
NM_022114.4(PRDM16):c.3284+15G>T
|
rs870171
|
0.31838
|
NM_001148.6(ANK2):c.11673T>C (p.His3891=)
|
rs2293324
|
0.30277
|
NM_145020.5(CFAP53):c.474-18T>C
|
rs35295154
|
0.30115
|
NM_000719.7(CACNA1C):c.1481+423G>A
|
rs12304811
|
0.29414
|
NM_000719.7(CACNA1C):c.1391-64del
|
rs34277236
|
0.29223
|
NM_145020.5(CFAP53):c.880G>A (p.Glu294Lys)
|
rs35193847
|
0.28522
|
NM_000719.7(CACNA1C):c.3913-270A>C
|
rs216036
|
0.28066
|
NM_001148.6(ANK2):c.7110A>G (p.Gln2370=)
|
rs3733615
|
0.27889
|
NM_000719.7(CACNA1C):c.617+19T>C
|
rs1544516
|
0.27158
|
NM_000719.7(CACNA1C):c.617+17G>A
|
rs1544515
|
0.27035
|
NM_000719.7(CACNA1C):c.2793+187A>G
|
rs215981
|
0.26946
|
NM_000719.7(CACNA1C):c.1390+243T>C
|
rs2239100
|
0.26025
|
NM_000238.4(KCNH2):c.1539C>T (p.Phe513=)
|
rs1805120
|
0.25427
|
NM_033337.3(CAV3):c.123T>C (p.Phe41=)
|
rs13087941
|
0.23875
|
NM_001148.6(ANK2):c.3579C>T (p.Arg1193=)
|
rs3736575
|
0.23645
|
NM_022114.4(PRDM16):c.444C>T (p.Ser148=)
|
rs2282198
|
0.22946
|
NM_001276345.2(TNNT2):c.811-122C>G
|
rs45509695
|
0.22049
|
NM_001148.6(ANK2):c.3893+14G>T
|
rs2272231
|
0.21141
|
NM_000719.7(CACNA1C):c.3718-81T>C
|
rs216007
|
0.20791
|
NM_000719.7(CACNA1C):c.3357-517T>C
|
rs215994
|
0.20720
|
NM_000719.7(CACNA1C):c.3786C>T (p.Phe1262=)
|
rs216008
|
0.20673
|
NM_005257.6(GATA6):c.1620+7A>G
|
rs3764962
|
0.20625
|
NM_000719.7(CACNA1C):c.3210-132C>T
|
rs123263
|
0.20429
|
NM_000238.4(KCNH2):c.2690A>C (p.Lys897Thr)
|
rs1805123
|
0.20300
|
NM_000719.7(CACNA1C):c.3357-172G>T
|
rs215995
|
0.19502
|
NM_000719.7(CACNA1C):c.3356+180C>T
|
rs215993
|
0.18727
|
NM_001308093.3(GATA4):c.1001-219G>T
|
rs4841588
|
0.18594
|
NM_000719.7(CACNA1C):c.2853+457C>T
|
rs215984
|
0.17782
|
NM_001136271.3(NKX2-6):c.204T>C (p.Asp68=)
|
rs61732911
|
0.17325
|
NM_001308093.3(GATA4):c.-543C>T
|
rs61277615
|
0.17297
|
NM_000218.3(KCNQ1):c.477+3521G>A
|
rs11823023
|
0.17068
|
NM_000719.7(CACNA1C):c.522G>A (p.Ala174=)
|
rs1544514
|
0.16949
|
NM_000719.7(CACNA1C):c.5444+259A>G
|
rs3794288
|
0.16837
|
NM_000719.7(CACNA1C):c.1508+264T>A
|
rs4765959
|
0.16775
|
NM_000719.7(CACNA1C):c.5574-111T>G
|
rs11062315
|
0.16775
|
NM_001386795.1(DTNA):c.1903+17T>C
|
rs541157
|
0.16470
|
NM_000218.3(KCNQ1):c.1638G>A (p.Ser546=)
|
rs1057128
|
0.16286
|
NM_005184.3(CALM3):c.-157T>A
|
rs150954567
|
0.15904
|
NM_015335.5(MED13L):c.3070T>C (p.Leu1024=)
|
rs1865787
|
0.15121
|
NM_015335.5(MED13L):c.5928T>C (p.Thr1976=)
|
rs2304460
|
0.14937
|
NM_001148.6(ANK2):c.8503C>T (p.Pro2835Ser)
|
rs3733617
|
0.14405
|
NM_022114.4(PRDM16):c.1898C>T (p.Pro633Leu)
|
rs2493292
|
0.14386
|
NM_022114.4(PRDM16):c.2603+20C>T
|
rs2493291
|
0.14355
|
NM_015335.5(MED13L):c.2013-7C>T
|
rs199749418
|
0.12825
|
NM_001148.6(ANK2):c.9648A>G (p.Glu3216=)
|
rs10013743
|
0.12780
|
NM_000891.3(KCNJ2):c.1146C>T (p.Leu382=)
|
rs173135
|
0.12771
|
NM_001148.6(ANK2):c.7106T>C (p.Val2369Ala)
|
rs28377576
|
0.12654
|
NM_000719.7(CACNA1C):c.4233-121A>G
|
rs45555233
|
0.12174
|
NM_001148.6(ANK2):c.6168C>G (p.Leu2056=)
|
rs3796928
|
0.11246
|
NM_001148.6(ANK2):c.10888+20C>T
|
rs35728190
|
0.10852
|
NM_000218.3(KCNQ1):c.*479G>A
|
rs2519184
|
0.10424
|
NM_000719.7(CACNA1C):c.3209+129T>C
|
rs215992
|
0.10242
|
NM_000719.7(CACNA1C):c.6118-79C>T
|
rs55830098
|
0.10145
|
NM_005751.5(AKAP9):c.7451A>G (p.Lys2484Arg)
|
rs35759833
|
0.09968
|
NM_000719.7(CACNA1C):c.478-137C>T
|
rs7303824
|
0.09932
|
NM_000719.7(CACNA1C):c.1481+727C>T
|
rs77367745
|
0.09544
|
NM_001308093.3(GATA4):c.1132A>G (p.Ser378Gly)
|
rs3729856
|
0.09064
|
NM_000719.7(CACNA1C):c.5574-174T>C
|
rs2909053
|
0.08815
|
NM_000719.7(CACNA1C):c.2436C>T (p.Asp812=)
|
rs215976
|
0.08744
|
NM_000719.7(CACNA1C):c.1481+743C>T
|
rs79331677
|
0.08514
|
NM_033337.3(CAV3):c.27C>T (p.Leu9=)
|
rs1974763
|
0.08452
|
NM_001276345.2(TNNT2):c.237G>A (p.Ser79=)
|
rs3729845
|
0.08311
|
NM_000218.3(KCNQ1):c.1590+14T>C
|
rs11024034
|
0.07860
|
NM_001148.6(ANK2):c.5469C>T (p.Pro1823=)
|
rs33966911
|
0.07670
|
NM_000719.7(CACNA1C):c.2103+293T>C
|
rs12303681
|
0.07656
|
NM_000719.7(CACNA1C):c.4233-129T>G
|
rs4765702
|
0.07532
|
NM_000719.7(CACNA1C):c.4141-321A>G
|
rs3794292
|
0.07325
|
NM_000719.7(CACNA1C):c.3157-90A>G
|
rs758560
|
0.07002
|
NM_000719.7(CACNA1C):c.3717+69C>T
|
rs55641425
|
0.06936
|
NM_000719.7(CACNA1C):c.4399-146C>A
|
rs2302727
|
0.06866
|
NM_000891.3(KCNJ2):c.660C>T (p.Ser220=)
|
rs7221086
|
0.06793
|
NM_000719.7(CACNA1C):c.1114-292C>T
|
rs2238087
|
0.06609
|
NM_000719.7(CACNA1C):c.1114-577G>A
|
rs72653436
|
0.06587
|
NM_000719.7(CACNA1C):c.3913-6632A>G
|
rs2239125
|
0.06503
|
NM_000719.7(CACNA1C):c.1896-126G>A
|
rs77955861
|
0.06491
|
NM_000890.5(KCNJ5):c.937+7C>T
|
rs45516097
|
0.06448
|
NM_015335.5(MED13L):c.6354C>T (p.Pro2118=)
|
rs3088260
|
0.06405
|
NM_000719.7(CACNA1C):c.5445-262A>G
|
rs35176240
|
0.05988
|
NM_000719.7(CACNA1C):c.4829-145C>G
|
rs12818148
|
0.05983
|
NM_001276345.2(TNNT2):c.788A>G (p.Lys263Arg)
|
rs3730238
|
0.05965
|
NM_000719.7(CACNA1C):c.2339+104C>G
|
rs74053838
|
0.05532
|
NM_000719.7(CACNA1C):c.4828+196G>T
|
rs113957250
|
0.05280
|
NM_000719.7(CACNA1C):c.2530+247T>C
|
rs1107389
|
0.05009
|
NM_000218.3(KCNQ1):c.478-10G>A
|
rs28730752
|
0.04910
|
NM_022114.4(PRDM16):c.677-16G>A
|
rs192554855
|
0.04854
|
NM_000719.7(CACNA1C):c.2531-169G>A
|
rs58411337
|
0.04696
|
NM_000719.7(CACNA1C):c.2460+160T>G
|
rs74053839
|
0.04668
|
NM_004821.3(HAND1):c.468T>G (p.Ser156=)
|
rs34402828
|
0.04584
|
NM_000719.7(CACNA1C):c.4038C>T (p.Ile1346=)
|
rs56180838
|
0.04572
|
NM_000719.7(CACNA1C):c.477+116658G>A
|
rs11614966
|
0.04533
|
NM_000719.7(CACNA1C):c.5292C>T (p.Asn1764=)
|
rs72552065
|
0.04512
|
NM_004821.3(HAND1):c.531G>C (p.Arg177=)
|
rs34198899
|
0.04411
|
NM_022114.4(PRDM16):c.2502C>T (p.Gly834=)
|
rs115226069
|
0.04338
|
NM_000719.7(CACNA1C):c.4485T>C (p.Asp1495=)
|
rs41276710
|
0.04216
|
NM_000719.7(CACNA1C):c.4727-190G>A
|
rs11062308
|
0.04196
|
NM_000719.7(CACNA1C):c.1481+191G>A
|
rs74053813
|
0.04192
|
NM_000719.7(CACNA1C):c.1218-66G>A
|
rs2239098
|
0.03942
|
NM_145020.5(CFAP53):c.691C>T (p.Arg231Cys)
|
rs12607385
|
0.03902
|
NM_000719.7(CACNA1C):c.1113+100C>G
|
rs116184062
|
0.03886
|
NM_000719.7(CACNA1C):c.2340-72G>A
|
rs11062281
|
0.03879
|
NM_174934.4(SCN4B):c.174C>T (p.Cys58=)
|
rs45539032
|
0.03816
|
NM_000719.7(CACNA1C):c.5784+199G>A
|
rs2270372
|
0.03693
|
NM_000719.7(CACNA1C):c.2104-311T>C
|
rs11831766
|
0.03668
|
NM_005751.5(AKAP9):c.4199T>C (p.Met1400Thr)
|
rs73407505
|
0.03644
|
NM_001308093.3(GATA4):c.1059C>T (p.Asn353=)
|
rs3729855
|
0.03634
|
NM_000719.7(CACNA1C):c.5574-176C>T
|
rs141720874
|
0.03610
|
NM_033337.3(CAV3):c.166G>A (p.Gly56Ser)
|
rs72546667
|
0.03558
|
NM_001148.6(ANK2):c.2337C>T (p.Val779=)
|
rs29341
|
0.03480
|
NM_015335.5(MED13L):c.579T>C (p.Asn193=)
|
rs11067880
|
0.03424
|
NM_000719.7(CACNA1C):c.1481+777C>A
|
rs58270510
|
0.03420
|
NM_000719.7(CACNA1C):c.4957-207C>T
|
rs111800411
|
0.03372
|
NM_000719.7(CACNA1C):c.4074+153G>A
|
rs45616033
|
0.03195
|
NM_000719.7(CACNA1C):c.1482-296C>G
|
rs140903845
|
0.03120
|
NM_000719.7(CACNA1C):c.1482-177A>G
|
rs117791272
|
0.03118
|
NM_005751.5(AKAP9):c.3318+13C>A
|
rs73403768
|
0.03055
|
NM_000719.7(CACNA1C):c.372-15G>A
|
rs55792866
|
0.02977
|
NM_000719.7(CACNA1C):c.3913-6516G>A
|
rs75047029
|
0.02975
|
NM_005257.6(GATA6):c.1302+20C>T
|
rs56314574
|
0.02932
|
NM_001148.6(ANK2):c.3510A>G (p.Val1170=)
|
rs35336373
|
0.02906
|
NM_001148.6(ANK2):c.384+19C>T
|
rs45502093
|
0.02751
|
NM_005257.6(GATA6):c.851C>G (p.Ala284Gly)
|
rs185325359
|
0.02672
|
NM_022114.4(PRDM16):c.1113C>T (p.Cys371=)
|
rs61745281
|
0.02560
|
NM_000719.7(CACNA1C):c.2853+440G>A
|
rs113064994
|
0.02504
|
NM_001136271.3(NKX2-6):c.386C>A (p.Ala129Glu)
|
rs143039156
|
0.02484
|
NM_005159.5(ACTC1):c.927T>C (p.Pro309=)
|
rs2307493
|
0.02473
|
NM_000719.7(CACNA1C):c.1481+189C>T
|
rs74053812
|
0.02456
|
NM_000719.7(CACNA1C):c.1114-587G>A
|
rs17223925
|
0.02407
|
NM_001148.6(ANK2):c.3796+18G>A
|
rs66792339
|
0.02360
|
NM_000719.7(CACNA1C):c.1390+188A>G
|
rs74053493
|
0.02322
|
NM_000719.7(CACNA1C):c.916+207G>A
|
rs61909400
|
0.02309
|
NM_005257.6(GATA6):c.43G>C (p.Gly15Arg)
|
rs116262672
|
0.02238
|
NM_003098.3(SNTA1):c.807T>C (p.Asn269=)
|
rs73270015
|
0.02196
|
NM_000719.7(CACNA1C):c.2663+79C>T
|
rs77802779
|
0.02186
|
NM_000719.7(CACNA1C):c.5784+149G>A
|
rs113077320
|
0.02145
|
NM_022114.4(PRDM16):c.627C>T (p.His209=)
|
rs12058363
|
0.02126
|
NM_000719.7(CACNA1C):c.1113+186C>T
|
rs115098369
|
0.02063
|
NM_000719.7(CACNA1C):c.1669+54G>A
|
rs2283325
|
0.02059
|
NM_001148.6(ANK2):c.9900C>A (p.Ser3300Arg)
|
rs34270799
|
0.01986
|
NM_000719.7(CACNA1C):c.2794-136G>T
|
rs56269265
|
0.01925
|
NM_145054.5(CFAP52):c.1065T>C (p.Asp355=)
|
rs57960962
|
0.01891
|
NM_000719.7(CACNA1C):c.3718-216G>A
|
rs117621166
|
0.01860
|
NM_001136271.3(NKX2-6):c.786C>G (p.Gly262=)
|
rs61749320
|
0.01783
|
NM_000719.7(CACNA1C):c.5680+15C>T
|
rs114036394
|
0.01782
|
NM_000719.7(CACNA1C):c.3913-6520C>A
|
rs75808668
|
0.01780
|
NM_145054.5(CFAP52):c.1392G>T (p.Val464=)
|
rs73975761
|
0.01713
|
NM_000719.7(CACNA1C):c.5649G>A (p.Pro1883=)
|
rs56270948
|
0.01676
|
NM_001743.6(CALM2):c.421+18A>G
|
rs2016682
|
0.01645
|
NM_033337.3(CAV3):c.171G>A (p.Val57=)
|
rs61147808
|
0.01628
|
NM_000719.7(CACNA1C):c.5383G>A (p.Gly1795Arg)
|
rs111298509
|
0.01614
|
NM_001148.6(ANK2):c.7007C>T (p.Ala2336Val)
|
rs61734477
|
0.01587
|
NM_000719.7(CACNA1C):c.171C>T (p.Asp57=)
|
rs34419050
|
0.01584
|
NM_001148.6(ANK2):c.6634G>A (p.Gly2212Ser)
|
rs61734478
|
0.01567
|
NM_005751.5(AKAP9):c.2782T>C (p.Leu928=)
|
rs34370932
|
0.01563
|
NM_005751.5(AKAP9):c.10608-15G>C
|
rs112467497
|
0.01552
|
NM_000218.3(KCNQ1):c.1455C>T (p.Phe485=)
|
rs17215465
|
0.01545
|
NM_000719.7(CACNA1C):c.2664-226C>G
|
rs115345429
|
0.01538
|
NM_000719.7(CACNA1C):c.2663+188C>T
|
rs117244626
|
0.01535
|
NM_000719.7(CACNA1C):c.1114-145A>G
|
rs114000334
|
0.01517
|
NM_005751.5(AKAP9):c.10331A>G (p.Gln3444Arg)
|
rs34956633
|
0.01509
|
NM_022114.4(PRDM16):c.2793C>T (p.Asn931=)
|
rs59135929
|
0.01493
|
NM_022114.4(PRDM16):c.2940-17G>A
|
rs41301967
|
0.01452
|
NM_001276345.2(TNNT2):c.163+12G>A
|
rs45580032
|
0.01441
|
NM_001386795.1(DTNA):c.1903+8G>A
|
rs111817603
|
0.01438
|
NM_001106.4(ACVR2B):c.1344+7G>T
|
rs9876823
|
0.01406
|
NM_000719.7(CACNA1C):c.477+116590T>C
|
rs113494472
|
0.01402
|
NM_000719.7(CACNA1C):c.213G>A (p.Ala71=)
|
rs113869350
|
0.01399
|
NM_000238.4(KCNH2):c.1809C>T (p.Gly603=)
|
rs41314375
|
0.01398
|
NM_000719.7(CACNA1C):c.371+230A>C
|
rs112435887
|
0.01390
|
NM_000719.7(CACNA1C):c.50-147C>T
|
rs112230077
|
0.01380
|
NM_000219.6(KCNE1):c.-50-288A>G
|
rs2070358
|
0.01366
|
NM_000719.7(CACNA1C):c.4527-151C>T
|
rs77773628
|
0.01290
|
NM_005751.5(AKAP9):c.1301G>A (p.Arg434Gln)
|
rs60031334
|
0.01237
|
NM_145054.5(CFAP52):c.1692A>C (p.Gly564=)
|
rs36018005
|
0.01222
|
NM_000238.4(KCNH2):c.1332G>A (p.Glu444=)
|
rs9770044
|
0.01204
|
NM_003098.3(SNTA1):c.1350C>T (p.Phe450=)
|
rs116747979
|
0.01203
|
NM_001276345.2(TNNT2):c.42-20G>A
|
rs45561443
|
0.01192
|
NM_000719.7(CACNA1C):c.1390+104C>T
|
rs143490559
|
0.01174
|
NM_005751.5(AKAP9):c.747A>G (p.Glu249=)
|
rs78515732
|
0.01148
|
NM_001308093.3(GATA4):c.1141G>A (p.Val381Met)
|
rs114868912
|
0.01121
|
NM_004387.4(NKX2-5):c.73C>T (p.Arg25Cys)
|
rs28936670
|
0.01082
|
NM_000218.3(KCNQ1):c.477+9C>T
|
rs28730664
|
0.01080
|
NM_015335.5(MED13L):c.6068-8C>T
|
rs61936939
|
0.01078
|
NM_000719.7(CACNA1C):c.4624-47A>G
|
rs114898435
|
0.01074
|
NM_000719.7(CACNA1C):c.4726+156G>A
|
rs114160767
|
0.01069
|
NM_001276345.2(TNNT2):c.294+7G>A
|
rs45490292
|
0.01066
|
NM_000719.7(CACNA1C):c.4527-67C>T
|
rs114987339
|
0.01042
|
NM_001148.6(ANK2):c.3893+10T>C
|
rs72556367
|
0.01042
|
NM_015335.5(MED13L):c.948G>A (p.Lys316=)
|
rs61748072
|
0.01036
|
NM_001148.6(ANK2):c.11218C>A (p.Leu3740Ile)
|
rs35530544
|
0.01031
|
NM_000218.3(KCNQ1):c.1394-14C>T
|
rs28730758
|
0.01027
|
NM_001308093.3(GATA4):c.1026T>C (p.Pro342=)
|
rs56206007
|
0.01003
|
NM_001386795.1(DTNA):c.1821G>A (p.Ala607=)
|
rs9959365
|
0.00984
|
NM_003413.4(ZIC3):c.162T>C (p.Ala54=)
|
rs62637689
|
0.00977
|
NM_003098.3(SNTA1):c.828G>A (p.Lys276=)
|
rs35938843
|
0.00969
|
NM_145020.5(CFAP53):c.939C>T (p.Leu313=)
|
rs35308427
|
0.00969
|
NM_000719.7(CACNA1C):c.5604A>G (p.Gln1868=)
|
rs11062316
|
0.00963
|
NM_001386795.1(DTNA):c.537G>T (p.Thr179=)
|
rs11877640
|
0.00956
|
NM_001148.6(ANK2):c.11790C>T (p.Ile3930=)
|
rs45517840
|
0.00954
|
NM_022114.4(PRDM16):c.783C>T (p.Tyr261=)
|
rs61756439
|
0.00952
|
NM_003098.3(SNTA1):c.555C>T (p.Val185=)
|
rs34995247
|
0.00948
|
NM_022114.4(PRDM16):c.1071C>T (p.Arg357=)
|
rs2483221
|
0.00935
|
NM_001308093.3(GATA4):c.1116A>G (p.Ser372=)
|
rs112435835
|
0.00928
|
NM_005751.5(AKAP9):c.10840A>G (p.Met3614Val)
|
rs34327395
|
0.00921
|
NM_000719.7(CACNA1C):c.771C>T (p.Val257=)
|
rs112315742
|
0.00908
|
NM_000719.7(CACNA1C):c.5444+1087C>T
|
rs138470879
|
0.00906
|
NM_003098.3(SNTA1):c.317G>A (p.Arg106Gln)
|
rs75025585
|
0.00904
|
NM_001386795.1(DTNA):c.933C>T (p.Ser311=)
|
rs114170541
|
0.00902
|
NM_022114.4(PRDM16):c.3109+10G>A
|
rs7549401
|
0.00898
|
NM_000719.7(CACNA1C):c.3913-300T>C
|
rs73243593
|
0.00877
|
NM_015335.5(MED13L):c.1009+12C>G
|
rs113214439
|
0.00872
|
NM_001276345.2(TNNT2):c.68-8A>G
|
rs115805892
|
0.00864
|
NM_015335.5(MED13L):c.4744T>A (p.Ser1582Thr)
|
rs150222863
|
0.00860
|
NM_015335.5(MED13L):c.3450C>T (p.Pro1150=)
|
rs78561507
|
0.00853
|
NM_015335.5(MED13L):c.5955C>T (p.Leu1985=)
|
rs113830913
|
0.00853
|
NM_005751.5(AKAP9):c.4841G>A (p.Arg1614Gln)
|
rs2230768
|
0.00849
|
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn)
|
rs1805128
|
0.00841
|
NM_000719.7(CACNA1C):c.1114-438T>G
|
rs148469662
|
0.00825
|
NM_001148.6(ANK2):c.9854T>C (p.Ile3285Thr)
|
rs36210417
|
0.00822
|
NM_001386795.1(DTNA):c.2162+14G>A
|
rs76713874
|
0.00820
|
NM_001148.6(ANK2):c.3379+12T>G
|
rs139528815
|
0.00812
|
NM_005184.4(CALM3):c.390C>T (p.Asp130=)
|
rs35617141
|
0.00806
|
NM_000719.7(CACNA1C):c.371+17G>A
|
rs78645318
|
0.00797
|
NM_001276345.2(TNNT2):c.474G>C (p.Arg158=)
|
rs35914325
|
0.00788
|
NM_003413.4(ZIC3):c.861G>A (p.Val287=)
|
rs61735159
|
0.00784
|
NM_001148.6(ANK2):c.9996T>C (p.Ser3332=)
|
rs145557320
|
0.00778
|
NM_005751.5(AKAP9):c.139C>T (p.His47Tyr)
|
rs35669569
|
0.00775
|
NM_001136271.3(NKX2-6):c.183C>T (p.Gly61=)
|
rs139466287
|
0.00769
|
NM_000719.7(CACNA1C):c.2854-333C>T
|
rs114405967
|
0.00765
|
NM_001106.4(ACVR2B):c.993C>T (p.Ser331=)
|
rs2228012
|
0.00761
|
NM_000218.3(KCNQ1):c.1927G>A (p.Gly643Ser)
|
rs1800172
|
0.00760
|
NM_001106.4(ACVR2B):c.666+5G>A
|
rs187763364
|
0.00760
|
NM_000719.7(CACNA1C):c.4140+211G>A
|
rs149013171
|
0.00738
|
NM_005751.5(AKAP9):c.9929G>A (p.Arg3310Gln)
|
rs78351282
|
0.00735
|
NM_000218.3(KCNQ1):c.1942G>A (p.Val648Ile)
|
rs34150427
|
0.00734
|
NM_000719.7(CACNA1C):c.3157-51T>C
|
rs111487482
|
0.00727
|
NM_000719.7(CACNA1C):c.3209+112G>A
|
rs112353655
|
0.00726
|
NM_018055.5(NODAL):c.588C>G (p.Leu196=)
|
rs2231959
|
0.00714
|
NM_145020.5(CFAP53):c.305G>A (p.Arg102His)
|
rs76722120
|
0.00711
|
NM_000719.7(CACNA1C):c.5097C>T (p.Ala1699=)
|
rs113595214
|
0.00709
|
NM_000218.3(KCNQ1):c.387-17G>A
|
rs28730661
|
0.00702
|
NM_145020.5(CFAP53):c.615G>C (p.Trp205Cys)
|
rs113161381
|
0.00691
|
NM_145020.5(CFAP53):c.798T>A (p.Ile266=)
|
rs113764917
|
0.00688
|
NM_022114.4(PRDM16):c.2091A>T (p.Ala697=)
|
rs35184988
|
0.00685
|
NM_001148.6(ANK2):c.2377-8C>T
|
rs139893914
|
0.00682
|
NM_004387.4(NKX2-5):c.861C>T (p.Ala287=)
|
rs77612903
|
0.00681
|
NM_005751.5(AKAP9):c.4693-10A>T
|
rs772968330
|
0.00678
|
NM_000219.6(KCNE1):c.84G>A (p.Ser28=)
|
rs17173510
|
0.00676
|
NM_001148.6(ANK2):c.2178+18C>T
|
rs45447896
|
0.00674
|
NM_000719.7(CACNA1C):c.3049-126C>T
|
rs112427283
|
0.00670
|
NM_000719.7(CACNA1C):c.3945+212C>T
|
rs143713629
|
0.00669
|
NM_022114.4(PRDM16):c.38-15C>T
|
rs9662053
|
0.00658
|
NM_000719.7(CACNA1C):c.4232+302C>T
|
rs114742504
|
0.00657
|
NM_001106.4(ACVR2B):c.1075-5C>T
|
rs115155428
|
0.00657
|
NM_000719.7(CACNA1C):c.758-38G>A
|
rs148596266
|
0.00652
|
NM_003413.4(ZIC3):c.649C>G (p.Pro217Ala)
|
rs104894963
|
0.00650
|
NM_000238.4(KCNH2):c.1558-5C>T
|
rs114186001
|
0.00642
|
NM_000719.7(CACNA1C):c.3558+314A>G
|
rs114079872
|
0.00642
|
NM_015335.5(MED13L):c.1590C>T (p.Ala530=)
|
rs114269768
|
0.00638
|
NM_005751.5(AKAP9):c.3827G>A (p.Arg1276Gln)
|
rs146797353
|
0.00635
|
NM_022114.4(PRDM16):c.2673G>A (p.Pro891=)
|
rs3819970
|
0.00634
|
NM_001148.6(ANK2):c.1881+8C>G
|
rs74976371
|
0.00612
|
NM_001148.6(ANK2):c.1995A>G (p.Pro665=)
|
rs45442693
|
0.00612
|
NM_005751.5(AKAP9):c.11331-11A>T
|
rs115270109
|
0.00611
|
NM_001148.6(ANK2):c.1245A>G (p.Glu415=)
|
rs34145832
|
0.00608
|
NM_001386795.1(DTNA):c.1438C>A (p.Pro480Thr)
|
rs77320474
|
0.00593
|
NM_000719.7(CACNA1C):c.3114G>C (p.Leu1038=)
|
rs114139824
|
0.00585
|
NM_003098.3(SNTA1):c.166C>T (p.Pro56Ser)
|
rs573772189
|
0.00585
|
NM_005751.5(AKAP9):c.9092A>G (p.Gln3031Arg)
|
rs61757673
|
0.00583
|
NM_004387.4(NKX2-5):c.543G>A (p.Gln181=)
|
rs72554028
|
0.00578
|
NM_000719.7(CACNA1C):c.5139C>T (p.Asp1713=)
|
rs115216455
|
0.00556
|
NM_000719.7(CACNA1C):c.916+63C>T
|
rs151143736
|
0.00546
|
NM_145054.5(CFAP52):c.1026-3C>T
|
rs75671790
|
0.00541
|
NM_001148.6(ANK2):c.7831T>C (p.Tyr2611His)
|
rs35338364
|
0.00539
|
NM_000719.7(CACNA1C):c.3913-7020C>T
|
rs151235067
|
0.00538
|
NM_001148.6(ANK2):c.2278-11G>A
|
rs146312675
|
0.00538
|
NM_022114.4(PRDM16):c.3369C>T (p.Asp1123=)
|
rs370420046
|
0.00537
|
NM_000719.7(CACNA1C):c.3387G>A (p.Thr1129=)
|
rs188224114
|
0.00525
|
NM_000218.3(KCNQ1):c.720C>T (p.His240=)
|
rs28730754
|
0.00524
|
NM_001308093.3(GATA4):c.1150-20G>A
|
rs114345849
|
0.00483
|
NM_000719.7(CACNA1C):c.758-288A>G
|
rs189856321
|
0.00476
|
NM_022114.4(PRDM16):c.1518G>A (p.Thr506=)
|
rs368589754
|
0.00469
|
NM_172201.2(KCNE2):c.25C>G (p.Gln9Glu)
|
rs16991652
|
0.00468
|
NM_001148.6(ANK2):c.9061G>A (p.Ala3021Thr)
|
rs74348333
|
0.00465
|
NM_001743.6(CALM2):c.240A>T (p.Thr80=)
|
rs77653008
|
0.00461
|
NM_001386795.1(DTNA):c.210G>A (p.Leu70=)
|
rs117571555
|
0.00459
|
NM_145020.5(CFAP53):c.910A>G (p.Arg304Gly)
|
rs34499039
|
0.00458
|
NM_145054.5(CFAP52):c.1185C>T (p.Asp395=)
|
rs149428354
|
0.00454
|
NM_000719.7(CACNA1C):c.5064C>T (p.Ser1688=)
|
rs139872789
|
0.00449
|
NM_000218.3(KCNQ1):c.1222C>G (p.Pro408Ala)
|
rs28730756
|
0.00447
|
NM_000218.3(KCNQ1):c.1514+18C>T
|
rs12577654
|
0.00444
|
NM_015335.5(MED13L):c.1863T>C (p.Ile621=)
|
rs61748071
|
0.00444
|
NM_145054.5(CFAP52):c.458C>T (p.Ala153Val)
|
rs77839011
|
0.00442
|
NM_000218.3(KCNQ1):c.683+20T>C
|
rs184516288
|
0.00440
|
NM_022114.4(PRDM16):c.1212G>A (p.Thr404=)
|
rs139129844
|
0.00438
|
NM_001308093.3(GATA4):c.1224A>C (p.Pro408=)
|
rs7830178
|
0.00435
|
NM_145020.5(CFAP53):c.789C>T (p.Asn263=)
|
rs114015053
|
0.00428
|
NM_000719.7(CACNA1C):c.5091+18G>A
|
rs143343491
|
0.00423
|
NM_003098.3(SNTA1):c.701+10G>A
|
rs6057846
|
0.00419
|
NM_001148.6(ANK2):c.4404+16T>C
|
rs2272233
|
0.00409
|
NM_001148.6(ANK2):c.4744C>T (p.Arg1582Trp)
|
rs35249198
|
0.00403
|
NM_001386795.1(DTNA):c.1993+7T>C
|
rs138590000
|
0.00403
|
NM_001106.4(ACVR2B):c.119G>A (p.Arg40His)
|
rs121434437
|
0.00398
|
NM_172201.2(KCNE2):c.22A>G (p.Thr8Ala)
|
rs2234916
|
0.00387
|
NM_022114.4(PRDM16):c.3130C>T (p.Leu1044Phe)
|
rs187400273
|
0.00386
|
NM_004387.4(NKX2-5):c.594G>A (p.Gln198=)
|
rs7728764
|
0.00381
|
NM_015335.5(MED13L):c.3512A>G (p.Lys1171Arg)
|
rs147863200
|
0.00377
|
NM_000890.5(KCNJ5):c.938-11C>T
|
rs72542772
|
0.00376
|
NM_022114.4(PRDM16):c.387+6C>T
|
rs369010644
|
0.00373
|
NM_005257.6(GATA6):c.1602A>G (p.Thr534=)
|
rs146949786
|
0.00362
|
NM_015335.5(MED13L):c.2239-16T>C
|
rs147314859
|
0.00355
|
NM_000719.7(CACNA1C):c.5360C>T (p.Thr1787Met)
|
rs192749597
|
0.00353
|
NM_145054.5(CFAP52):c.537-18T>G
|
rs200087214
|
0.00349
|
NM_000719.7(CACNA1C):c.109G>A (p.Gly37Arg)
|
rs34534613
|
0.00346
|
NM_174934.4(SCN4B):c.639C>T (p.Asn213=)
|
rs72544155
|
0.00341
|
NM_001148.6(ANK2):c.9454A>G (p.Thr3152Ala)
|
rs61741040
|
0.00340
|
NM_000719.7(CACNA1C):c.3157-175C>T
|
rs146526882
|
0.00338
|
NM_145020.5(CFAP53):c.115A>C (p.Arg39=)
|
rs112087763
|
0.00337
|
NM_001148.6(ANK2):c.2970A>C (p.Arg990=)
|
rs35956627
|
0.00336
|
NM_001386795.1(DTNA):c.1435-19T>C
|
rs141620769
|
0.00328
|
NM_001148.6(ANK2):c.10861C>G (p.Leu3621Val)
|
rs45570339
|
0.00327
|
NM_005257.6(GATA6):c.222G>A (p.Pro74=)
|
rs374402554
|
0.00327
|
NM_001308093.3(GATA4):c.1235C>T (p.Ala412Val)
|
rs55633527
|
0.00326
|
NM_003413.4(ZIC3):c.912G>A (p.Arg304=)
|
rs10126585
|
0.00325
|
NM_000238.4(KCNH2):c.542G>A (p.Arg181Gln)
|
rs41308954
|
0.00317
|
NM_033337.3(CAV3):c.233C>T (p.Thr78Met)
|
rs72546668
|
0.00317
|
NM_145020.5(CFAP53):c.57A>G (p.Lys19=)
|
rs180778332
|
0.00310
|
NM_145054.5(CFAP52):c.1320+18T>C
|
rs73975757
|
0.00310
|
NM_005751.5(AKAP9):c.8485G>A (p.Glu2829Lys)
|
rs149946443
|
0.00303
|
NM_001106.4(ACVR2B):c.811-12G>A
|
rs144849143
|
0.00302
|
NM_000890.5(KCNJ5):c.121C>T (p.Arg41Cys)
|
rs115012103
|
0.00300
|
NM_005751.5(AKAP9):c.2425A>G (p.Ile809Val)
|
rs144615758
|
0.00298
|
NM_005751.5(AKAP9):c.7275G>A (p.Gln2425=)
|
rs61757672
|
0.00298
|
NM_005751.5(AKAP9):c.10858A>G (p.Ile3620Val)
|
rs142729919
|
0.00296
|
NM_015335.5(MED13L):c.1725G>A (p.Ser575=)
|
rs77263223
|
0.00295
|
NM_000238.4(KCNH2):c.3152+12C>A
|
rs72549420
|
0.00293
|
NM_000238.4(KCNH2):c.621C>T (p.Ser207=)
|
rs41314417
|
0.00289
|
NM_005751.5(AKAP9):c.9648A>G (p.Lys3216=)
|
rs146710448
|
0.00289
|
NM_000719.7(CACNA1C):c.3829-954C>T
|
rs570378412
|
0.00285
|
NM_001386795.1(DTNA):c.243A>G (p.Leu81=)
|
rs146923532
|
0.00285
|
NM_015335.5(MED13L):c.1095G>A (p.Ser365=)
|
rs144327790
|
0.00284
|
NM_001148.6(ANK2):c.10395G>A (p.Glu3465=)
|
rs147423696
|
0.00282
|
NM_000719.7(CACNA1C):c.2449C>T (p.Pro817Ser)
|
rs112532048
|
0.00279
|
NM_005751.5(AKAP9):c.6134A>G (p.Asn2045Ser)
|
rs139963188
|
0.00279
|
NM_001308093.3(GATA4):c.825C>T (p.Cys275=)
|
rs55980825
|
0.00275
|
NM_005184.4(CALM3):c.201G>A (p.Pro67=)
|
rs34089805
|
0.00271
|
NM_001148.6(ANK2):c.1401A>G (p.Ala467=)
|
rs142159132
|
0.00269
|
NM_001148.6(ANK2):c.4152T>C (p.Asp1384=)
|
rs116128106
|
0.00267
|
NM_001148.6(ANK2):c.3543C>T (p.Ala1181=)
|
rs76685232
|
0.00265
|
NM_005751.5(AKAP9):c.1053A>G (p.Lys351=)
|
rs368967178
|
0.00263
|
NM_005751.5(AKAP9):c.4519G>C (p.Asp1507His)
|
rs34086871
|
0.00262
|
NM_001386795.1(DTNA):c.999C>T (p.Ile333=)
|
rs61737438
|
0.00258
|
NM_145054.5(CFAP52):c.1772C>T (p.Thr591Ile)
|
rs112783393
|
0.00257
|
NM_000238.4(KCNH2):c.3153-15C>T
|
rs41313755
|
0.00256
|
NM_001148.6(ANK2):c.3366C>T (p.Asn1122=)
|
rs114896457
|
0.00256
|
NM_005751.5(AKAP9):c.7638A>G (p.Ile2546Met)
|
rs144662445
|
0.00253
|
NM_022114.4(PRDM16):c.100G>A (p.Ala34Thr)
|
rs187194973
|
0.00252
|
NM_145054.5(CFAP52):c.804T>C (p.Ser268=)
|
rs137995073
|
0.00251
|
NM_005751.5(AKAP9):c.6556T>C (p.Ser2186Pro)
|
rs76177450
|
0.00250
|
NM_000719.7(CACNA1C):c.2531-187C>T
|
rs186600638
|
0.00245
|
NM_005159.5(ACTC1):c.454+9G>A
|
rs148695567
|
0.00245
|
NM_145054.5(CFAP52):c.1369C>T (p.Leu457=)
|
rs140517505
|
0.00244
|
NM_000719.7(CACNA1C):c.4727-124A>C
|
rs7954316
|
0.00243
|
NM_000719.7(CACNA1C):c.4623+13G>A
|
rs111734850
|
0.00241
|
NM_005751.5(AKAP9):c.1372G>C (p.Ala458Pro)
|
rs143894795
|
0.00241
|
NM_001148.6(ANK2):c.9286A>G (p.Ser3096Gly)
|
rs144158934
|
0.00238
|
NM_004821.3(HAND1):c.162G>A (p.Pro54=)
|
rs138460675
|
0.00236
|
NM_001148.6(ANK2):c.11791G>A (p.Glu3931Lys)
|
rs45454496
|
0.00235
|
NM_005751.5(AKAP9):c.11098-13T>G
|
rs76709221
|
0.00235
|
NM_000719.7(CACNA1C):c.2664-170T>A
|
rs187261372
|
0.00232
|
NM_001308093.3(GATA4):c.462C>T (p.Phe154=)
|
rs56348550
|
0.00232
|
NM_005257.6(GATA6):c.1374C>T (p.Asn458=)
|
rs143026087
|
0.00230
|
NM_145054.5(CFAP52):c.788G>A (p.Gly263Asp)
|
rs139646620
|
0.00230
|
NM_000238.4(KCNH2):c.558C>T (p.Gly186=)
|
rs139533994
|
0.00228
|
NM_005184.4(CALM3):c.306C>T (p.Ser102=)
|
rs146819515
|
0.00227
|
NM_001148.6(ANK2):c.7132G>A (p.Glu2378Lys)
|
rs141191319
|
0.00222
|
NM_015335.5(MED13L):c.1283A>G (p.His428Arg)
|
rs144410580
|
0.00222
|
NM_003098.3(SNTA1):c.1426-5T>C
|
rs183939417
|
0.00221
|
NM_003098.3(SNTA1):c.770C>G (p.Ala257Gly)
|
rs56157422
|
0.00217
|
NM_005751.5(AKAP9):c.11225G>C (p.Arg3742Pro)
|
rs34101758
|
0.00217
|
NM_001386795.1(DTNA):c.1176-8T>C
|
rs41274310
|
0.00216
|
NM_005751.5(AKAP9):c.510G>C (p.Glu170Asp)
|
rs144888041
|
0.00212
|
NM_005751.5(AKAP9):c.6331-8T>C
|
rs186211000
|
0.00210
|
NM_000719.7(CACNA1C):c.1176G>T (p.Gly392=)
|
rs1051360
|
0.00209
|
NM_001148.6(ANK2):c.6648C>G (p.Gly2216=)
|
rs140926982
|
0.00208
|
NM_001148.6(ANK2):c.11860-18T>G
|
rs138978479
|
0.00207
|
NM_001386795.1(DTNA):c.1297C>T (p.His433Tyr)
|
rs139872140
|
0.00207
|
NM_145020.5(CFAP53):c.494G>A (p.Arg165His)
|
rs138848935
|
0.00207
|
NM_003413.4(ZIC3):c.49G>T (p.Gly17Cys)
|
rs147232392
|
0.00206
|
NM_001148.6(ANK2):c.2277+9C>T
|
rs141965666
|
0.00205
|
NM_001148.6(ANK2):c.10371G>A (p.Thr3457=)
|
rs142908806
|
0.00203
|
NM_003098.3(SNTA1):c.311-6G>C
|
rs139532210
|
0.00201
|
NM_000719.7(CACNA1C):c.1794C>T (p.Gly598=)
|
rs116491041
|
0.00200
|
NM_001148.6(ANK2):c.10901T>A (p.Val3634Asp)
|
rs66785829
|
0.00200
|
NM_001308093.3(GATA4):c.99G>T (p.Ala33=)
|
rs56166237
|
0.00199
|
NM_003098.3(SNTA1):c.221C>T (p.Pro74Leu)
|
rs572545726
|
0.00198
|
NM_000719.7(CACNA1C):c.4829-7G>A
|
rs137904817
|
0.00194
|
NM_000719.7(CACNA1C):c.5665C>T (p.Arg1889Cys)
|
rs185788586
|
0.00182
|
NM_000890.5(KCNJ5):c.192C>T (p.His64=)
|
rs140848236
|
0.00182
|
NM_015335.5(MED13L):c.1215T>G (p.Pro405=)
|
rs147976467
|
0.00182
|
NM_003413.4(ZIC3):c.270C>T (p.His90=)
|
rs369721947
|
0.00180
|
NM_145054.5(CFAP52):c.213C>T (p.Ala71=)
|
rs143579503
|
0.00179
|
NM_001148.6(ANK2):c.11465G>C (p.Gly3822Ala)
|
rs79577190
|
0.00178
|
NC_000005.10:g.173235491T>C
|
rs118026695
|
0.00176
|
NM_000719.7(CACNA1C):c.1669+10G>A
|
rs576194052
|
0.00175
|
NM_004821.3(HAND1):c.247G>T (p.Gly83Trp)
|
rs201302313
|
0.00175
|
NM_005751.5(AKAP9):c.5978-4A>G
|
rs147494754
|
0.00175
|
NM_015335.5(MED13L):c.4593C>T (p.Thr1531=)
|
rs138774472
|
0.00172
|
NM_001148.6(ANK2):c.8354C>T (p.Ser2785Leu)
|
rs145895389
|
0.00170
|
NM_000719.7(CACNA1C):c.4140+259C>T
|
rs557738769
|
0.00168
|
NM_022114.4(PRDM16):c.2506G>A (p.Gly836Ser)
|
rs114204766
|
0.00168
|
NM_005751.5(AKAP9):c.5428A>G (p.Met1810Val)
|
rs115624293
|
0.00167
|
NM_022114.4(PRDM16):c.1188T>C (p.Cys396=)
|
rs201309284
|
0.00167
|
NM_000719.7(CACNA1C):c.1113+23C>A
|
rs142826660
|
0.00166
|
NM_006888.6(CALM1):c.4-10C>G
|
rs191723671
|
0.00166
|
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp)
|
rs116840776
|
0.00164
|
NM_000719.7(CACNA1C):c.4624-9C>T
|
rs377568567
|
0.00163
|
NM_001308093.3(GATA4):c.1140C>T (p.Ser380=)
|
rs34393445
|
0.00161
|
NM_022114.4(PRDM16):c.2452G>A (p.Gly818Ser)
|
rs201904226
|
0.00160
|
NM_022114.4(PRDM16):c.1684G>A (p.Val562Ile)
|
rs150395260
|
0.00159
|
NM_000218.3(KCNQ1):c.435C>T (p.Ile145=)
|
rs1800170
|
0.00158
|
NM_000719.7(CACNA1C):c.372-305T>C
|
rs2239132
|
0.00158
|
NM_005751.5(AKAP9):c.11273G>A (p.Arg3758His)
|
rs141856443
|
0.00158
|
NM_033337.3(CAV3):c.336C>T (p.Ile112=)
|
rs139985460
|
0.00157
|
NM_000238.4(KCNH2):c.1129-18C>T
|
rs78794789
|
0.00156
|
NM_001148.6(ANK2):c.3255G>T (p.Ala1085=)
|
rs56173868
|
0.00156
|
NM_022114.4(PRDM16):c.201G>A (p.Pro67=)
|
rs199614349
|
0.00153
|
NM_000218.3(KCNQ1):c.478-8C>T
|
rs150711844
|
0.00150
|
NM_001308093.3(GATA4):c.735C>T (p.Tyr245=)
|
rs146696080
|
0.00148
|
NM_005751.5(AKAP9):c.10197T>C (p.Thr3399=)
|
rs143627839
|
0.00148
|
NM_005751.5(AKAP9):c.11300C>T (p.Ser3767Leu)
|
rs149979685
|
0.00148
|
NM_000218.3(KCNQ1):c.1032+11C>T
|
rs201144841
|
0.00146
|
NM_005184.4(CALM3):c.267G>A (p.Ala89=)
|
rs115265989
|
0.00146
|
NM_005751.5(AKAP9):c.1536C>T (p.Leu512=)
|
rs61757665
|
0.00146
|
NM_001308093.3(GATA4):c.1040C>T (p.Ala347Val)
|
rs115372595
|
0.00144
|
NM_022114.4(PRDM16):c.3102C>T (p.Asn1034=)
|
rs199853370
|
0.00144
|
NM_005751.5(AKAP9):c.6037G>A (p.Glu2013Lys)
|
rs61757671
|
0.00142
|
NM_015335.5(MED13L):c.1904G>A (p.Ser635Asn)
|
rs144457722
|
0.00141
|
NM_000719.7(CACNA1C):c.5918G>A (p.Arg1973Gln)
|
rs112414325
|
0.00140
|
NM_001148.6(ANK2):c.7902G>A (p.Val2634=)
|
rs150878494
|
0.00138
|
NM_005751.5(AKAP9):c.80C>T (p.Ser27Leu)
|
rs142401936
|
0.00137
|
NM_022114.4(PRDM16):c.3687T>C (p.Ala1229=)
|
rs188634763
|
0.00137
|
NM_022114.4(PRDM16):c.49G>A (p.Val17Ile)
|
rs183153140
|
0.00137
|
NM_005751.5(AKAP9):c.6921A>G (p.Gln2307=)
|
rs141156177
|
0.00136
|
NM_015335.5(MED13L):c.4522C>T (p.His1508Tyr)
|
rs75575870
|
0.00136
|
NM_000218.3(KCNQ1):c.459G>A (p.Thr153=)
|
rs148121889
|
0.00134
|
NM_000238.4(KCNH2):c.3111C>T (p.Asp1037=)
|
rs200799870
|
0.00134
|
NM_000719.7(CACNA1C):c.1482-264C>T
|
rs144865478
|
0.00134
|
NM_001148.6(ANK2):c.6906C>T (p.Thr2302=)
|
rs139910215
|
0.00133
|
NM_001148.6(ANK2):c.8658A>G (p.Leu2886=)
|
rs149433267
|
0.00133
|
NM_001276345.2(TNNT2):c.68-5C>T
|
rs540630390
|
0.00133
|
NM_000719.7(CACNA1C):c.3780C>A (p.Gly1260=)
|
rs201258230
|
0.00131
|
NM_022114.4(PRDM16):c.1426C>T (p.Pro476Ser)
|
rs188908415
|
0.00131
|
NM_145054.5(CFAP52):c.214A>G (p.Ile72Val)
|
rs112544398
|
0.00129
|
NM_001148.6(ANK2):c.11718G>A (p.Arg3906=)
|
rs35724152
|
0.00128
|
NM_000218.3(KCNQ1):c.447C>T (p.Ala149=)
|
rs146436765
|
0.00126
|
NM_015335.5(MED13L):c.2056A>C (p.Lys686Gln)
|
rs139048741
|
0.00126
|
NM_145020.5(CFAP53):c.194A>G (p.Glu65Gly)
|
rs200684225
|
0.00126
|
NM_000719.7(CACNA1C):c.1895+85G>A
|
rs189312629
|
0.00125
|
NM_003098.3(SNTA1):c.993C>T (p.Arg331=)
|
rs143309917
|
0.00125
|
NM_001148.6(ANK2):c.7059A>G (p.Gln2353=)
|
rs145782226
|
0.00124
|
NM_018055.5(NODAL):c.216C>T (p.Asn72=)
|
rs138195571
|
0.00124
|
NM_001386795.1(DTNA):c.604-14G>T
|
rs397517447
|
0.00123
|
NM_022114.4(PRDM16):c.3110-13C>T
|
rs150372316
|
0.00122
|
NM_003098.3(SNTA1):c.984C>T (p.Pro328=)
|
rs138863915
|
0.00121
|
NM_004387.4(NKX2-5):c.335-162G>A
|
rs200039950
|
0.00121
|
NM_000719.7(CACNA1C):c.724C>T (p.Leu242=)
|
rs200800133
|
0.00120
|
NM_001386795.1(DTNA):c.1000G>A (p.Val334Met)
|
rs148123045
|
0.00120
|
NM_015335.5(MED13L):c.5365-13G>A
|
rs187309577
|
0.00119
|
NM_005751.5(AKAP9):c.3624T>C (p.Ser1208=)
|
rs142610139
|
0.00118
|
NM_022114.4(PRDM16):c.2290G>A (p.Val764Met)
|
rs149333409
|
0.00117
|
NM_022114.4(PRDM16):c.3621A>T (p.Glu1207Asp)
|
rs199972068
|
0.00117
|
NM_015335.5(MED13L):c.6225+20C>T
|
rs146803417
|
0.00116
|
NM_004387.4(NKX2-5):c.237G>C (p.Pro79=)
|
rs72554029
|
0.00115
|
NM_005184.4(CALM3):c.178+18C>T
|
rs180722019
|
0.00115
|
NM_015335.5(MED13L):c.3330T>C (p.Tyr1110=)
|
rs139711748
|
0.00114
|
NM_000719.7(CACNA1C):c.1074G>A (p.Gln358=)
|
rs139842134
|
0.00113
|
NM_003413.4(ZIC3):c.607G>A (p.Ala203Thr)
|
rs140823819
|
0.00113
|
NM_005751.5(AKAP9):c.6249C>T (p.Phe2083=)
|
rs139770404
|
0.00113
|
NM_015335.5(MED13L):c.4467C>T (p.Ser1489=)
|
rs141892892
|
0.00113
|
NM_005751.5(AKAP9):c.288G>T (p.Glu96Asp)
|
rs34953651
|
0.00112
|
NM_022114.4(PRDM16):c.2130G>A (p.Gly710=)
|
rs193118666
|
0.00112
|
NM_005751.5(AKAP9):c.10767G>A (p.Leu3589=)
|
rs56198613
|
0.00111
|
NM_003098.3(SNTA1):c.1488C>A (p.Ala496=)
|
rs34901081
|
0.00106
|
NM_000719.7(CACNA1C):c.4956+17G>A
|
rs200706151
|
0.00103
|
NM_000719.7(CACNA1C):c.5609C>T (p.Thr1870Met)
|
rs201777030
|
0.00102
|
NM_005751.5(AKAP9):c.9358+11T>C
|
rs199714035
|
0.00101
|
NM_001148.6(ANK2):c.11725T>C (p.Ser3909Pro)
|
rs141124755
|
0.00100
|
NM_022114.4(PRDM16):c.2940-18C>T
|
rs377695146
|
0.00100
|
NM_022114.4(PRDM16):c.3570G>A (p.Pro1190=)
|
rs541512137
|
0.00100
|
NM_145054.5(CFAP52):c.1613G>C (p.Arg538Thr)
|
rs140641061
|
0.00099
|
NM_000238.4(KCNH2):c.3133C>T (p.Leu1045Phe)
|
rs199473025
|
0.00098
|
NM_000238.4(KCNH2):c.1563C>T (p.Ile521=)
|
rs143011005
|
0.00097
|
NM_000238.4(KCNH2):c.1581G>A (p.Ala527=)
|
rs150275982
|
0.00096
|
NM_000719.7(CACNA1C):c.3642C>T (p.Tyr1214=)
|
rs56394008
|
0.00096
|
NM_000719.7(CACNA1C):c.5199G>A (p.Ala1733=)
|
rs200638007
|
0.00096
|
NM_004387.4(NKX2-5):c.606G>C (p.Leu202=)
|
rs3729753
|
0.00096
|
NM_001148.6(ANK2):c.5985G>A (p.Lys1995=)
|
rs116652427
|
0.00095
|
NM_001148.6(ANK2):c.11716C>T (p.Arg3906Trp)
|
rs121912706
|
0.00094
|
NM_000719.7(CACNA1C):c.3049-10C>T
|
rs186741807
|
0.00093
|
NM_005257.6(GATA6):c.1350A>G (p.Thr450=)
|
rs61731977
|
0.00093
|
NM_005751.5(AKAP9):c.8286A>C (p.Lys2762Asn)
|
rs144875383
|
0.00093
|
NM_000218.3(KCNQ1):c.478-20G>A
|
rs368080519
|
0.00092
|
NM_000719.7(CACNA1C):c.4074+14A>G
|
rs371806132
|
0.00092
|
NM_000218.3(KCNQ1):c.619G>A (p.Val207Met)
|
rs75813654
|
0.00091
|
NM_005257.6(GATA6):c.1375G>A (p.Ala459Thr)
|
rs151176879
|
0.00091
|
NM_022114.4(PRDM16):c.573+17A>G
|
rs370287328
|
0.00091
|
NM_001148.6(ANK2):c.4745G>A (p.Arg1582Gln)
|
rs138842207
|
0.00090
|
NM_004387.4(NKX2-5):c.355G>T (p.Ala119Ser)
|
rs137852684
|
0.00090
|
NM_001148.6(ANK2):c.1863C>G (p.Ser621=)
|
rs146425138
|
0.00089
|
NM_005751.5(AKAP9):c.10664A>T (p.Asp3555Val)
|
rs139046510
|
0.00089
|
NM_000719.7(CACNA1C):c.4611C>T (p.Arg1537=)
|
rs372702466
|
0.00088
|
NM_001148.6(ANK2):c.11524C>T (p.Arg3842Trp)
|
rs139797180
|
0.00088
|
NM_022114.4(PRDM16):c.1134C>G (p.Ser378=)
|
rs200169663
|
0.00088
|
NM_033337.3(CAV3):c.40G>A (p.Val14Ile)
|
rs121909281
|
0.00088
|
NM_000890.5(KCNJ5):c.837G>A (p.Glu279=)
|
rs149861510
|
0.00087
|
NM_005257.6(GATA6):c.533C>T (p.Ala178Val)
|
rs387906815
|
0.00087
|
NM_145020.5(CFAP53):c.124C>T (p.Arg42Cys)
|
rs138060809
|
0.00087
|
NM_000238.4(KCNH2):c.1528C>T (p.Leu510=)
|
rs75648145
|
0.00085
|
NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly)
|
rs72544141
|
0.00085
|
NM_018055.5(NODAL):c.916C>T (p.His306Tyr)
|
rs148708629
|
0.00085
|
NM_001148.6(ANK2):c.11538C>T (p.Leu3846=)
|
rs45602336
|
0.00084
|
NM_015335.5(MED13L):c.1008A>C (p.Leu336=)
|
rs150782464
|
0.00084
|
NM_022114.4(PRDM16):c.429C>T (p.Cys143=)
|
rs150097149
|
0.00084
|
NM_000238.4(KCNH2):c.51C>G (p.Thr17=)
|
rs144338227
|
0.00083
|
NM_000719.7(CACNA1C):c.3234C>T (p.Asp1078=)
|
rs111606207
|
0.00083
|
NM_001308093.3(GATA4):c.888C>T (p.Cys296=)
|
rs143109496
|
0.00083
|
NM_015335.5(MED13L):c.1010-14G>A
|
rs368042803
|
0.00083
|
NM_174934.4(SCN4B):c.480C>T (p.Asn160=)
|
rs72546675
|
0.00083
|
NM_005751.5(AKAP9):c.5369T>G (p.Val1790Gly)
|
rs151021935
|
0.00082
|
NM_145054.5(CFAP52):c.1106G>A (p.Arg369Gln)
|
rs141646758
|
0.00082
|
NM_001148.6(ANK2):c.7397G>A (p.Arg2466His)
|
rs142078935
|
0.00081
|
NM_005751.5(AKAP9):c.1651A>G (p.Ile551Val)
|
rs140664656
|
0.00081
|
NM_022114.4(PRDM16):c.2296G>A (p.Gly766Ser)
|
rs199998420
|
0.00081
|
NM_005751.5(AKAP9):c.9127G>A (p.Ala3043Thr)
|
rs138390702
|
0.00080
|
NM_000238.4(KCNH2):c.2617G>A (p.Gly873Ser)
|
rs41314354
|
0.00079
|
NM_005751.5(AKAP9):c.6508-20A>T
|
rs374874284
|
0.00079
|
NM_000238.4(KCNH2):c.2145+16C>T
|
rs41314369
|
0.00078
|
NM_000890.5(KCNJ5):c.1149C>T (p.Pro383=)
|
rs143219149
|
0.00078
|
NM_004387.4(NKX2-5):c.114G>A (p.Glu38=)
|
rs151314714
|
0.00078
|
NM_006888.6(CALM1):c.178+18A>G
|
rs201018787
|
0.00078
|
NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn)
|
rs121912705
|
0.00077
|
NM_000238.4(KCNH2):c.568G>A (p.Ala190Thr)
|
rs150817714
|
0.00076
|
NM_018055.5(NODAL):c.545C>T (p.Pro182Leu)
|
rs143239895
|
0.00076
|
NM_000719.7(CACNA1C):c.6272A>G (p.Asn2091Ser)
|
rs201090446
|
0.00074
|
NM_005751.5(AKAP9):c.7166A>G (p.Asp2389Gly)
|
rs140782750
|
0.00074
|
NM_000891.3(KCNJ2):c.1065T>G (p.Leu355=)
|
rs139564374
|
0.00073
|
NM_004387.4(NKX2-5):c.61G>C (p.Glu21Gln)
|
rs104893904
|
0.00073
|
NM_001148.6(ANK2):c.669+3A>G
|
rs370475820
|
0.00072
|
NM_022114.4(PRDM16):c.3154G>A (p.Ala1052Thr)
|
rs113879347
|
0.00072
|
NM_004387.4(NKX2-5):c.124G>C (p.Ala42Pro)
|
rs113818864
|
0.00071
|
NM_000891.3(KCNJ2):c.213C>T (p.Asp71=)
|
rs150671256
|
0.00070
|
NM_001148.6(ANK2):c.11493G>T (p.Glu3831Asp)
|
rs144046572
|
0.00070
|
NM_004821.3(HAND1):c.180G>A (p.Gly60=)
|
rs369386099
|
0.00070
|
NM_005751.5(AKAP9):c.6176A>G (p.Glu2059Gly)
|
rs73226383
|
0.00070
|
NM_001148.6(ANK2):c.4456G>C (p.Val1486Leu)
|
rs149678604
|
0.00068
|
NM_005257.6(GATA6):c.592C>G (p.Leu198Val)
|
rs387906814
|
0.00068
|
NM_000238.4(KCNH2):c.1353G>A (p.Pro451=)
|
rs763446458
|
0.00067
|
NM_001148.6(ANK2):c.11459G>A (p.Arg3820Gln)
|
rs138085317
|
0.00067
|
NM_001276345.2(TNNT2):c.98-81G>A
|
rs45576939
|
0.00067
|
NM_003098.3(SNTA1):c.440C>A (p.Thr147Asn)
|
rs141724500
|
0.00067
|
NM_000719.7(CACNA1C):c.911T>C (p.Ile304Thr)
|
rs201756421
|
0.00066
|
NM_001148.6(ANK2):c.11694+19T>A
|
rs114122425
|
0.00066
|
NM_005751.5(AKAP9):c.2581T>C (p.Tyr861His)
|
rs61757557
|
0.00066
|
NM_001148.6(ANK2):c.6206G>A (p.Arg2069His)
|
rs149645600
|
0.00065
|
NM_005751.5(AKAP9):c.10254G>C (p.Gln3418His)
|
rs61757663
|
0.00065
|
NM_005751.5(AKAP9):c.4342A>G (p.Ile1448Val)
|
rs150379637
|
0.00065
|
NM_005751.5(AKAP9):c.6696A>G (p.Gln2232=)
|
rs147194783
|
0.00065
|
NM_022114.4(PRDM16):c.2634C>T (p.Pro878=)
|
rs201338158
|
0.00065
|
NM_001148.6(ANK2):c.261G>A (p.Gly87=)
|
rs145502481
|
0.00064
|
NM_001148.6(ANK2):c.8979A>G (p.Ile2993Met)
|
rs112252825
|
0.00064
|
NM_005751.5(AKAP9):c.3223T>C (p.Leu1075=)
|
rs143712699
|
0.00064
|
NM_172201.2(KCNE2):c.317C>T (p.Ser106Leu)
|
rs183427173
|
0.00064
|
NM_000238.4(KCNH2):c.982C>T (p.Arg328Cys)
|
rs199473505
|
0.00063
|
NM_000719.7(CACNA1C):c.1359C>T (p.Asp453=)
|
rs200330469
|
0.00063
|
NM_000719.7(CACNA1C):c.5451C>T (p.His1817=)
|
rs113239186
|
0.00063
|
NM_001106.4(ACVR2B):c.1140C>T (p.Ala380=)
|
rs149695736
|
0.00063
|
NM_001386795.1(DTNA):c.2178A>C (p.Ala726=)
|
rs145486636
|
0.00063
|
NM_001386795.1(DTNA):c.92G>A (p.Arg31Gln)
|
rs202046233
|
0.00063
|
NM_003098.3(SNTA1):c.497-7C>T
|
rs116972153
|
0.00063
|
NM_022114.4(PRDM16):c.2406G>A (p.Pro802=)
|
rs368750536
|
0.00063
|
NM_022114.4(PRDM16):c.2786C>A (p.Pro929His)
|
rs145632008
|
0.00063
|
NM_172201.2(KCNE2):c.170T>C (p.Ile57Thr)
|
rs74315448
|
0.00063
|
NM_000218.3(KCNQ1):c.1799C>T (p.Thr600Met)
|
rs34516117
|
0.00062
|
NM_000238.4(KCNH2):c.442C>T (p.Arg148Trp)
|
rs139544114
|
0.00062
|
NM_000719.7(CACNA1C):c.1707A>G (p.Ala569=)
|
rs375534041
|
0.00062
|
NM_000238.4(KCNH2):c.1039C>T (p.Pro347Ser)
|
rs138776684
|
0.00061
|
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp)
|
rs36210422
|
0.00061
|
NM_005751.5(AKAP9):c.10118C>A (p.Ser3373Tyr)
|
rs140470576
|
0.00061
|
NM_005751.5(AKAP9):c.1737T>G (p.Ser579=)
|
rs138049714
|
0.00061
|
NM_005751.5(AKAP9):c.5246T>C (p.Ile1749Thr)
|
rs150016098
|
0.00061
|
NM_015335.5(MED13L):c.771C>T (p.Asp257=)
|
rs148136300
|
0.00061
|
NM_145054.5(CFAP52):c.936G>A (p.Ser312=)
|
rs146057434
|
0.00061
|
NM_005257.6(GATA6):c.855G>T (p.Ala285=)
|
rs1014349671
|
0.00060
|
NM_005751.5(AKAP9):c.10672A>G (p.Ile3558Val)
|
rs144054367
|
0.00060
|
NM_022114.4(PRDM16):c.934G>A (p.Asp312Asn)
|
rs191798831
|
0.00060
|
NM_015335.5(MED13L):c.2013-5T>C
|
rs372464585
|
0.00059
|
NM_022114.4(PRDM16):c.1599G>A (p.Ser533=)
|
rs373205864
|
0.00059
|
NM_022114.4(PRDM16):c.2691+12G>T
|
rs201371121
|
0.00059
|
NM_000719.7(CACNA1C):c.4317C>T (p.Asn1439=)
|
rs183192651
|
0.00058
|
NM_000719.7(CACNA1C):c.5391C>G (p.Pro1797=)
|
rs376124689
|
0.00058
|
NM_001148.6(ANK2):c.6176C>T (p.Thr2059Met)
|
rs200765866
|
0.00058
|
NM_001148.6(ANK2):c.6912T>C (p.Thr2304=)
|
rs190680846
|
0.00058
|
NM_005751.5(AKAP9):c.4127G>C (p.Ser1376Thr)
|
rs144372406
|
0.00058
|
NM_005751.5(AKAP9):c.41A>C (p.Lys14Thr)
|
rs138107415
|
0.00058
|
NM_022114.4(PRDM16):c.2603+6C>T
|
rs374549827
|
0.00058
|
NM_022114.4(PRDM16):c.38-14G>A
|
rs368409902
|
0.00058
|
NM_022114.4(PRDM16):c.2449G>A (p.Gly817Ser)
|
rs375308440
|
0.00057
|
NM_000238.4(KCNH2):c.2738C>T (p.Ala913Val)
|
rs77331749
|
0.00056
|
NM_001743.6(CALM2):c.243C>T (p.Asp81=)
|
rs141298844
|
0.00056
|
NM_018055.5(NODAL):c.972G>A (p.Leu324=)
|
rs143903715
|
0.00056
|
NM_000719.7(CACNA1C):c.2530+13C>T
|
rs374170716
|
0.00055
|
NM_005751.5(AKAP9):c.10459G>A (p.Glu3487Lys)
|
rs61757664
|
0.00055
|
NM_021005.4(NR2F2):c.537C>T (p.Ser179=)
|
rs143951395
|
0.00055
|
NM_000218.3(KCNQ1):c.1332G>A (p.Thr444=)
|
rs144985256
|
0.00054
|
NM_000238.4(KCNH2):c.3153-18C>T
|
rs201337201
|
0.00054
|
NM_003098.3(SNTA1):c.787G>T (p.Ala263Ser)
|
rs150576530
|
0.00054
|
NM_005751.5(AKAP9):c.10845G>A (p.Lys3615=)
|
rs138739292
|
0.00054
|
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn)
|
rs12720457
|
0.00053
|
NM_022114.4(PRDM16):c.553A>G (p.Met185Val)
|
rs376567517
|
0.00053
|
NM_172201.2(KCNE2):c.40G>A (p.Val14Ile)
|
rs142153692
|
0.00053
|
NM_000719.7(CACNA1C):c.3156+17G>A
|
rs201709484
|
0.00052
|
NM_000719.7(CACNA1C):c.5680+11C>A
|
rs66611965
|
0.00052
|
NM_001148.6(ANK2):c.9046G>A (p.Glu3016Lys)
|
rs149963885
|
0.00052
|
NM_015335.5(MED13L):c.1910G>A (p.Arg637His)
|
rs146499452
|
0.00052
|
NM_000719.7(CACNA1C):c.372-23A>G
|
rs200282707
|
0.00051
|
NM_000719.7(CACNA1C):c.5091+17C>T
|
rs375537358
|
0.00051
|
NM_000890.5(KCNJ5):c.957G>A (p.Arg319=)
|
rs192889782
|
0.00051
|
NM_001148.6(ANK2):c.130C>G (p.Leu44Val)
|
rs145272651
|
0.00051
|
NM_001148.6(ANK2):c.7971C>T (p.Ser2657=)
|
rs146085234
|
0.00051
|
NM_001148.6(ANK2):c.9923C>G (p.Thr3308Ser)
|
rs145145511
|
0.00051
|
NM_005751.5(AKAP9):c.8975C>T (p.Ser2992Leu)
|
rs149341527
|
0.00051
|
NM_018055.5(NODAL):c.904C>T (p.Arg302Cys)
|
rs150819707
|
0.00051
|
NM_022114.4(PRDM16):c.142G>A (p.Val48Met)
|
rs199968728
|
0.00051
|
NM_000218.3(KCNQ1):c.1431C>T (p.Pro477=)
|
rs137887424
|
0.00050
|
NM_001148.6(ANK2):c.6228G>T (p.Lys2076Asn)
|
rs144848998
|
0.00050
|
NM_000218.3(KCNQ1):c.984C>T (p.Ile328=)
|
rs140019543
|
0.00049
|
NM_000891.3(KCNJ2):c.1044C>T (p.Tyr348=)
|
rs146330042
|
0.00049
|
NM_001106.4(ACVR2B):c.667-9C>T
|
rs186009413
|
0.00049
|
NM_001148.6(ANK2):c.231G>A (p.Val77=)
|
rs149699185
|
0.00049
|
NM_033337.3(CAV3):c.276C>T (p.Phe92=)
|
rs72546669
|
0.00049
|
NM_033337.3(CAV3):c.443G>A (p.Arg148Gln)
|
rs140575619
|
0.00049
|
NM_000719.7(CACNA1C):c.5150C>G (p.Ala1717Gly)
|
rs201492706
|
0.00048
|
NM_000719.7(CACNA1C):c.537C>T (p.Ile179=)
|
rs369673473
|
0.00048
|
NM_015335.5(MED13L):c.40C>T (p.Leu14=)
|
rs148454293
|
0.00048
|
NM_015335.5(MED13L):c.73-7T>C
|
rs199550041
|
0.00048
|
NM_022114.4(PRDM16):c.481A>G (p.Asn161Asp)
|
rs374664141
|
0.00048
|
NM_000218.3(KCNQ1):c.972C>T (p.Val324=)
|
rs554518844
|
0.00047
|
NM_001386795.1(DTNA):c.955A>G (p.Met319Val)
|
rs141981161
|
0.00047
|
NM_174934.4(SCN4B):c.542T>C (p.Leu181Pro)
|
rs61065977
|
0.00047
|
NM_000364.3(TNNT2):c.113C>T (p.Ala38Val)
|
rs200754249
|
0.00046
|
NM_001148.6(ANK2):c.10289A>C (p.Glu3430Ala)
|
rs149574241
|
0.00046
|
NM_005751.5(AKAP9):c.674T>C (p.Met225Thr)
|
rs143717354
|
0.00046
|
NM_006888.6(CALM1):c.303C>T (p.Ile101=)
|
rs143503733
|
0.00046
|
NM_015335.5(MED13L):c.3758C>T (p.Thr1253Ile)
|
rs148416895
|
0.00046
|
NM_022114.4(PRDM16):c.3110-4G>A
|
rs201495178
|
0.00046
|
NM_000719.7(CACNA1C):c.2766G>A (p.Pro922=)
|
rs184684058
|
0.00045
|
NM_005257.6(GATA6):c.1135+9C>G
|
rs76308670
|
0.00045
|
NM_005257.6(GATA6):c.1605A>G (p.Gln535=)
|
rs117646477
|
0.00045
|
NM_022114.4(PRDM16):c.2576C>T (p.Ser859Leu)
|
rs370046582
|
0.00045
|
NM_022114.4(PRDM16):c.2741T>C (p.Met914Thr)
|
rs201304831
|
0.00045
|
NM_001148.6(ANK2):c.670-10A>G
|
rs374372032
|
0.00044
|
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys)
|
rs121964857
|
0.00044
|
NM_001308093.3(GATA4):c.348C>T (p.Ser116=)
|
rs772532276
|
0.00044
|
NM_001308093.3(GATA4):c.918C>T (p.Pro306=)
|
rs147050993
|
0.00044
|
NM_003098.3(SNTA1):c.619C>T (p.Arg207Trp)
|
rs139537086
|
0.00044
|
NM_005751.5(AKAP9):c.4985C>T (p.Ala1662Val)
|
rs149244653
|
0.00044
|
NM_005751.5(AKAP9):c.883A>G (p.Thr295Ala)
|
rs149825027
|
0.00044
|
NM_015335.5(MED13L):c.5809A>C (p.Ile1937Leu)
|
rs143602183
|
0.00044
|
NM_005751.5(AKAP9):c.158A>G (p.His53Arg)
|
rs142125596
|
0.00043
|
NM_005751.5(AKAP9):c.3072G>C (p.Val1024=)
|
rs151038875
|
0.00043
|
NM_022114.4(PRDM16):c.2692-10A>G
|
rs754274180
|
0.00043
|
NM_033337.3(CAV3):c.417C>T (p.Val139=)
|
rs147250678
|
0.00043
|
NM_000218.3(KCNQ1):c.105C>A (p.Pro35=)
|
rs968695655
|
0.00042
|
NM_000719.7(CACNA1C):c.966C>T (p.His322=)
|
rs112539787
|
0.00042
|
NM_000891.3(KCNJ2):c.1200G>A (p.Thr400=)
|
rs201253055
|
0.00042
|
NM_000891.3(KCNJ2):c.1229A>G (p.Asn410Ser)
|
rs141069645
|
0.00042
|
NM_022114.4(PRDM16):c.342G>A (p.Val114=)
|
rs35186069
|
0.00042
|
NM_000218.3(KCNQ1):c.811C>T (p.Leu271=)
|
rs189991547
|
0.00041
|
NM_003098.3(SNTA1):c.784A>C (p.Thr262Pro)
|
rs200316080
|
0.00041
|
NM_005751.5(AKAP9):c.6918G>A (p.Gln2306=)
|
rs188264356
|
0.00041
|
NM_015335.5(MED13L):c.4459C>A (p.Pro1487Thr)
|
rs146112707
|
0.00041
|
NM_015335.5(MED13L):c.4691C>T (p.Pro1564Leu)
|
rs112709561
|
0.00041
|
NM_022114.4(PRDM16):c.2142G>A (p.Lys714=)
|
rs200167919
|
0.00041
|
NM_000238.4(KCNH2):c.2965+14C>T
|
rs201706355
|
0.00040
|
NM_001148.6(ANK2):c.198C>T (p.Asn66=)
|
rs146964054
|
0.00040
|
NM_005159.5(ACTC1):c.219C>T (p.Ile73=)
|
rs376566924
|
0.00040
|
NM_005751.5(AKAP9):c.3430T>C (p.Cys1144Arg)
|
rs141039834
|
0.00040
|
NM_005751.5(AKAP9):c.4246-6A>T
|
rs192046591
|
0.00040
|
NM_022114.4(PRDM16):c.102G>A (p.Ala34=)
|
rs374918897
|
0.00040
|
NM_001136271.3(NKX2-6):c.121T>A (p.Phe41Ile)
|
rs576577900
|
0.00039
|
NM_003098.3(SNTA1):c.210G>C (p.Pro70=)
|
rs751651742
|
0.00039
|
NM_005257.6(GATA6):c.1723G>C (p.Ala575Pro)
|
rs149569288
|
0.00039
|
NM_005751.5(AKAP9):c.1936A>G (p.Ile646Val)
|
rs144918888
|
0.00039
|
NM_005751.5(AKAP9):c.81G>A (p.Ser27=)
|
rs145936668
|
0.00039
|
NM_000218.3(KCNQ1):c.1860C>T (p.His620=)
|
rs139893266
|
0.00038
|
NM_001148.6(ANK2):c.7267G>A (p.Ala2423Thr)
|
rs3733616
|
0.00038
|
NM_005184.4(CALM3):c.183C>T (p.Asn61=)
|
rs3729761
|
0.00038
|
NM_018055.5(NODAL):c.357C>T (p.Pro119=)
|
rs77151171
|
0.00038
|
NM_000218.3(KCNQ1):c.1800G>A (p.Thr600=)
|
rs147091980
|
0.00037
|
NM_000238.4(KCNH2):c.2900C>T (p.Pro967Leu)
|
rs199473016
|
0.00037
|
NM_000890.5(KCNJ5):c.273C>T (p.Leu91=)
|
rs146853795
|
0.00037
|
NM_000890.5(KCNJ5):c.744G>A (p.Glu248=)
|
rs144040058
|
0.00037
|
NM_001386795.1(DTNA):c.1480G>A (p.Asp494Asn)
|
rs144880521
|
0.00037
|
NM_003098.3(SNTA1):c.677G>A (p.Cys226Tyr)
|
rs34479952
|
0.00037
|
NM_000218.3(KCNQ1):c.458C>T (p.Thr153Met)
|
rs143709408
|
0.00036
|
NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg)
|
rs121912775
|
0.00036
|
NM_000719.7(CACNA1C):c.5639G>A (p.Arg1880Gln)
|
rs182208896
|
0.00036
|
NM_001136271.3(NKX2-6):c.464G>T (p.Arg155Leu)
|
rs534202593
|
0.00036
|
NM_001148.6(ANK2):c.2727T>A (p.Thr909=)
|
rs144548535
|
0.00036
|
NM_003098.3(SNTA1):c.863C>A (p.Thr288Lys)
|
rs750525497
|
0.00036
|
NM_005751.5(AKAP9):c.10249C>T (p.Arg3417Cys)
|
rs146495719
|
0.00036
|
NM_005751.5(AKAP9):c.456C>A (p.Asp152Glu)
|
rs138567837
|
0.00036
|
NM_145054.5(CFAP52):c.244G>A (p.Gly82Arg)
|
rs150136894
|
0.00036
|
NM_000719.7(CACNA1C):c.1390+11G>A
|
rs376570105
|
0.00035
|
NM_001106.4(ACVR2B):c.1444C>T (p.Arg482Trp)
|
rs144370188
|
0.00035
|
NM_001136271.3(NKX2-6):c.150G>T (p.Pro50=)
|
rs550727329
|
0.00035
|
NM_001148.6(ANK2):c.4123-19T>G
|
rs199938838
|
0.00035
|
NM_004821.3(HAND1):c.518G>T (p.Arg173Leu)
|
rs146912397
|
0.00035
|
NM_005751.5(AKAP9):c.3580G>A (p.Ala1194Thr)
|
rs139965373
|
0.00035
|
NM_015335.5(MED13L):c.2703_2705dup (p.Pro901_Met902insIle)
|
rs556713164
|
0.00035
|
NM_015335.5(MED13L):c.3214G>A (p.Val1072Ile)
|
rs142907547
|
0.00035
|
NM_022114.4(PRDM16):c.1093G>T (p.Ala365Ser)
|
rs200562747
|
0.00035
|
NM_022114.4(PRDM16):c.2508C>T (p.Gly836=)
|
rs374271999
|
0.00035
|
NM_000890.5(KCNJ5):c.825C>A (p.Ile275=)
|
rs113012271
|
0.00034
|
NM_001308093.3(GATA4):c.531C>A (p.Ala177=)
|
rs573733348
|
0.00034
|
NM_001386795.1(DTNA):c.2039G>A (p.Arg680Gln)
|
rs138143719
|
0.00034
|
NM_005751.5(AKAP9):c.4163C>T (p.Ser1388Leu)
|
rs143565222
|
0.00034
|
NM_005751.5(AKAP9):c.4164G>A (p.Ser1388=)
|
rs146831402
|
0.00034
|
NM_005751.5(AKAP9):c.4917+3A>C
|
rs200730225
|
0.00034
|
NM_006888.6(CALM1):c.69T>C (p.Asp23=)
|
rs144339242
|
0.00034
|
NM_015335.5(MED13L):c.1877C>T (p.Pro626Leu)
|
rs186297695
|
0.00034
|
NM_015335.5(MED13L):c.4758G>A (p.Pro1586=)
|
rs141818426
|
0.00034
|
NM_022114.4(PRDM16):c.1566G>T (p.Leu522Phe)
|
rs554705536
|
0.00034
|
NM_022114.4(PRDM16):c.1632C>T (p.Asp544=)
|
rs199499877
|
0.00034
|
NM_022114.4(PRDM16):c.1726G>A (p.Glu576Lys)
|
rs201517929
|
0.00034
|
NM_022114.4(PRDM16):c.2952C>T (p.Cys984=)
|
rs200234106
|
0.00034
|
NM_145020.5(CFAP53):c.1101C>A (p.Asp367Glu)
|
rs369539291
|
0.00034
|
NM_000719.7(CACNA1C):c.5444G>C (p.Arg1815Thr)
|
rs374425919
|
0.00033
|
NM_000719.7(CACNA1C):c.916+15C>T
|
rs201265381
|
0.00033
|
NM_005751.5(AKAP9):c.4825A>C (p.Arg1609=)
|
rs143473598
|
0.00033
|
NM_005751.5(AKAP9):c.9214-6T>C
|
rs377532409
|
0.00033
|
NM_022114.4(PRDM16):c.2187C>G (p.Phe729Leu)
|
rs200109766
|
0.00033
|
NM_000719.7(CACNA1C):c.6161A>G (p.Lys2054Arg)
|
rs200588235
|
0.00032
|
NM_001148.6(ANK2):c.8240G>A (p.Arg2747His)
|
rs142137451
|
0.00032
|
NM_001148.6(ANK2):c.867C>T (p.Gly289=)
|
rs113692517
|
0.00032
|
NM_001148.6(ANK2):c.8727C>T (p.Pro2909=)
|
rs144821187
|
0.00032
|
NM_005257.6(GATA6):c.352C>T (p.Leu118Phe)
|
rs368297251
|
0.00032
|
NM_005257.6(GATA6):c.62C>G (p.Ala21Gly)
|
rs139666654
|
0.00032
|
NM_015335.5(MED13L):c.2239-7T>C
|
rs144147395
|
0.00032
|
NM_015335.5(MED13L):c.4697C>T (p.Ser1566Leu)
|
rs113890513
|
0.00032
|
NM_022114.4(PRDM16):c.488C>T (p.Ala163Val)
|
rs201182055
|
0.00032
|
NM_145020.5(CFAP53):c.1125G>A (p.Lys375=)
|
rs372566333
|
0.00032
|
NM_000719.7(CACNA1C):c.4641C>T (p.Asn1547=)
|
rs202194703
|
0.00031
|
NM_001148.6(ANK2):c.7488A>G (p.Thr2496=)
|
rs143161930
|
0.00031
|
NM_001276345.2(TNNT2):c.720-13_720-11del
|
rs397516480
|
0.00031
|
NM_005257.6(GATA6):c.1516+17G>A
|
rs371870484
|
0.00031
|
NM_005751.5(AKAP9):c.1099G>A (p.Val367Met)
|
rs138161478
|
0.00031
|
NM_005751.5(AKAP9):c.948A>G (p.Val316=)
|
rs767404316
|
0.00031
|
NM_022114.4(PRDM16):c.2394C>T (p.Gly798=)
|
rs374283575
|
0.00031
|
NM_174934.4(SCN4B):c.607G>A (p.Val203Met)
|
rs150312046
|
0.00031
|
NM_001148.6(ANK2):c.1386+18C>A
|
rs374858404
|
0.00030
|
NM_001148.6(ANK2):c.5371G>A (p.Val1791Ile)
|
rs148921195
|
0.00030
|
NM_001386795.1(DTNA):c.51G>A (p.Gln17=)
|
rs368000651
|
0.00030
|
NM_000218.3(KCNQ1):c.1794+11G>A
|
rs186188610
|
0.00029
|
NM_000238.4(KCNH2):c.2454G>A (p.Ser818=)
|
rs72549418
|
0.00029
|
NM_000238.4(KCNH2):c.3063C>T (p.Ser1021=)
|
rs199767579
|
0.00029
|
NM_000238.4(KCNH2):c.3366G>A (p.Pro1122=)
|
rs371473271
|
0.00029
|
NM_000719.7(CACNA1C):c.2460+6G>A
|
rs369246066
|
0.00029
|
NM_000719.7(CACNA1C):c.5149G>A (p.Ala1717Thr)
|
rs200865354
|
0.00029
|
NM_000719.7(CACNA1C):c.984C>T (p.Asn328=)
|
rs374050127
|
0.00029
|
NM_001136271.3(NKX2-6):c.895A>G (p.Arg299Gly)
|
rs564297816
|
0.00029
|
NM_001148.6(ANK2):c.10881T>G (p.His3627Gln)
|
rs148405740
|
0.00029
|
NM_001148.6(ANK2):c.11009C>A (p.Thr3670Asn)
|
rs45608232
|
0.00029
|
NM_001148.6(ANK2):c.9825T>G (p.Asp3275Glu)
|
rs149043752
|
0.00029
|
NM_001276345.2(TNNT2):c.41+16A>G
|
rs370729174
|
0.00029
|
NM_001308093.3(GATA4):c.786+8C>T
|
rs371709162
|
0.00029
|
NM_001308093.3(GATA4):c.802G>A (p.Val268Met)
|
rs116781972
|
0.00029
|
NM_005751.5(AKAP9):c.2589G>A (p.Glu863=)
|
rs147158224
|
0.00029
|
NM_021005.4(NR2F2):c.129C>G (p.Pro43=)
|
rs551936462
|
0.00029
|
NM_022114.4(PRDM16):c.2281G>A (p.Ala761Thr)
|
rs200947814
|
0.00029
|
NM_022114.4(PRDM16):c.2618G>A (p.Arg873Gln)
|
rs184929979
|
0.00029
|
NM_022114.4(PRDM16):c.885-4G>A
|
rs374365034
|
0.00029
|
NM_000238.4(KCNH2):c.2707G>A (p.Gly903Arg)
|
rs199473669
|
0.00028
|
NM_000238.4(KCNH2):c.2730G>A (p.Pro910=)
|
rs916754925
|
0.00028
|
NM_001148.6(ANK2):c.1910C>T (p.Ala637Val)
|
rs150488571
|
0.00028
|
NM_001148.6(ANK2):c.7254C>T (p.Ser2418=)
|
rs369910938
|
0.00028
|
NM_001386795.1(DTNA):c.2108G>A (p.Arg703Gln)
|
rs142009291
|
0.00028
|
NM_005751.5(AKAP9):c.7208A>G (p.Glu2403Gly)
|
rs150102469
|
0.00028
|
NM_022114.4(PRDM16):c.2379G>A (p.Ser793=)
|
rs368154998
|
0.00028
|
NM_000219.6(KCNE1):c.374C>T (p.Thr125Met)
|
rs142511345
|
0.00027
|
NM_000719.7(CACNA1C):c.846C>T (p.Tyr282=)
|
rs200847105
|
0.00027
|
NM_001148.6(ANK2):c.8843C>G (p.Ala2948Gly)
|
rs138438183
|
0.00027
|
NM_001308094.2(GATA4):c.-6+2500T>C
|
rs372004083
|
0.00027
|
NM_004387.4(NKX2-5):c.180G>A (p.Glu60=)
|
rs373636712
|
0.00027
|
NM_000218.3(KCNQ1):c.386+14C>T
|
rs370023636
|
0.00026
|
NM_000238.4(KCNH2):c.2371C>T (p.Arg791Trp)
|
rs138498207
|
0.00026
|
NM_000719.7(CACNA1C):c.5885G>A (p.Arg1962Gln)
|
rs199776761
|
0.00026
|
NM_000890.5(KCNJ5):c.1158G>C (p.Leu386=)
|
rs141325005
|
0.00026
|
NM_001106.4(ACVR2B):c.1477C>T (p.Leu493Phe)
|
rs150752796
|
0.00026
|
NM_001148.6(ANK2):c.7707A>G (p.Ala2569=)
|
rs144407821
|
0.00026
|
NM_001148.6(ANK2):c.9279C>G (p.Thr3093=)
|
rs148851013
|
0.00026
|
NM_004387.4(NKX2-5):c.632C>T (p.Pro211Leu)
|
rs3729754
|
0.00026
|
NM_004821.3(HAND1):c.46C>A (p.Pro16Thr)
|
rs200556971
|
0.00026
|
NM_004821.3(HAND1):c.566C>T (p.Pro189Leu)
|
rs147677474
|
0.00026
|
NM_005751.5(AKAP9):c.11135G>A (p.Arg3712Gln)
|
rs186148498
|
0.00026
|
NM_005751.5(AKAP9):c.4826G>A (p.Arg1609Lys)
|
rs148146011
|
0.00026
|
NM_005751.5(AKAP9):c.8656A>G (p.Ile2886Val)
|
rs143283097
|
0.00026
|
NM_005751.5(AKAP9):c.9444G>A (p.Thr3148=)
|
rs148799606
|
0.00026
|
NM_005751.5(AKAP9):c.9697C>T (p.Arg3233Cys)
|
rs61757674
|
0.00026
|
NM_022114.4(PRDM16):c.1882G>A (p.Asp628Asn)
|
rs199895459
|
0.00026
|
NM_145020.5(CFAP53):c.239G>A (p.Arg80Gln)
|
rs76334647
|
0.00026
|
NM_000218.3(KCNQ1):c.1355G>A (p.Arg452Gln)
|
rs145229963
|
0.00025
|
NM_000719.7(CACNA1C):c.2280G>A (p.Glu760=)
|
rs141633456
|
0.00025
|
NM_000719.7(CACNA1C):c.3747C>T (p.Ile1249=)
|
rs370576211
|
0.00025
|
NM_000719.7(CACNA1C):c.618G>A (p.Gly206=)
|
rs200602896
|
0.00025
|
NM_000890.5(KCNJ5):c.122G>A (p.Arg41His)
|
rs139073333
|
0.00025
|
NM_001308093.3(GATA4):c.616+15G>A
|
rs767068839
|
0.00025
|
NM_001386795.1(DTNA):c.1270A>G (p.Asn424Asp)
|
rs150679265
|
0.00025
|
NM_001386795.1(DTNA):c.1404G>A (p.Ala468=)
|
rs144776465
|
0.00025
|
NM_001386795.1(DTNA):c.316C>G (p.Gln106Glu)
|
rs140768365
|
0.00025
|
NM_005257.6(GATA6):c.849G>A (p.Ala283=)
|
rs1000153828
|
0.00025
|
NM_005751.5(AKAP9):c.3952+14A>G
|
rs147955593
|
0.00025
|
NM_005751.5(AKAP9):c.464C>A (p.Thr155Asn)
|
rs142632541
|
0.00025
|
NM_005751.5(AKAP9):c.7488T>G (p.Asn2496Lys)
|
rs201977551
|
0.00025
|
NM_005751.5(AKAP9):c.8677G>C (p.Asp2893His)
|
rs142573103
|
0.00025
|
NM_022114.4(PRDM16):c.2666C>T (p.Pro889Leu)
|
rs201814961
|
0.00025
|
NM_145054.5(CFAP52):c.810C>T (p.Ala270=)
|
rs146548028
|
0.00025
|
NM_172201.2(KCNE2):c.29C>T (p.Thr10Met)
|
rs199473648
|
0.00025
|
NM_172201.2(KCNE2):c.80G>A (p.Arg27His)
|
rs148968498
|
0.00025
|
NM_174934.4(SCN4B):c.194A>T (p.His65Leu)
|
rs112363898
|
0.00025
|
NM_000218.3(KCNQ1):c.1861G>A (p.Gly621Ser)
|
rs199472820
|
0.00024
|
NM_000219.6(KCNE1):c.206A>G (p.Lys69Arg)
|
rs149338401
|
0.00024
|
NM_000719.7(CACNA1C):c.1485C>A (p.His495Gln)
|
rs373335068
|
0.00024
|
NM_000719.7(CACNA1C):c.5975G>T (p.Cys1992Phe)
|
rs375818733
|
0.00024
|
NM_000891.3(KCNJ2):c.372C>T (p.Ser124=)
|
rs138877244
|
0.00024
|
NM_001148.6(ANK2):c.5509G>A (p.Ala1837Thr)
|
rs199527708
|
0.00024
|
NM_001308093.3(GATA4):c.1001-4C>G
|
rs199915980
|
0.00024
|
NM_001386795.1(DTNA):c.1330C>T (p.Arg444Trp)
|
rs199867593
|
0.00024
|
NM_005751.5(AKAP9):c.577-14C>G
|
rs377559109
|
0.00024
|
NM_005751.5(AKAP9):c.5895G>A (p.Glu1965=)
|
rs138928104
|
0.00024
|
NM_005751.5(AKAP9):c.971T>C (p.Ile324Thr)
|
rs367857951
|
0.00024
|
NM_015335.5(MED13L):c.5502C>T (p.His1834=)
|
rs200440551
|
0.00024
|
NM_015335.5(MED13L):c.5732-3C>T
|
rs370245982
|
0.00024
|
NM_022114.4(PRDM16):c.2126T>C (p.Met709Thr)
|
rs201807364
|
0.00024
|
NM_172201.2(KCNE2):c.161T>C (p.Met54Thr)
|
rs74315447
|
0.00024
|
NM_174934.4(SCN4B):c.235-7C>T
|
rs377621220
|
0.00024
|
NM_000238.4(KCNH2):c.2729C>T (p.Pro910Leu)
|
rs199473436
|
0.00023
|
NM_000238.4(KCNH2):c.697G>T (p.Ala233Ser)
|
rs772037564
|
0.00023
|
NM_000238.4(KCNH2):c.707G>T (p.Gly236Val)
|
rs199472870
|
0.00023
|
NM_000719.7(CACNA1C):c.5478G>A (p.Ala1826=)
|
rs200283756
|
0.00023
|
NM_001148.6(ANK2):c.10703G>A (p.Arg3568Gln)
|
rs142612379
|
0.00023
|
NM_001148.6(ANK2):c.286-7A>G
|
rs371664490
|
0.00023
|
NM_001148.6(ANK2):c.2868C>T (p.Asn956=)
|
rs145960256
|
0.00023
|
NM_001148.6(ANK2):c.4315G>T (p.Gly1439Cys)
|
rs34591340
|
0.00023
|
NM_001148.6(ANK2):c.741C>T (p.Asn247=)
|
rs190102899
|
0.00023
|
NM_001148.6(ANK2):c.7908A>G (p.Glu2636=)
|
rs139656907
|
0.00023
|
NM_001148.6(ANK2):c.9424A>C (p.Thr3142Pro)
|
rs374350634
|
0.00023
|
NM_004387.4(NKX2-5):c.852C>G (p.Ala284=)
|
rs374150672
|
0.00023
|
NM_005751.5(AKAP9):c.3864G>A (p.Met1288Ile)
|
rs547958010
|
0.00023
|
NM_006888.6(CALM1):c.285+20G>T
|
rs185096080
|
0.00023
|
NM_015335.5(MED13L):c.3866C>T (p.Pro1289Leu)
|
rs200187663
|
0.00023
|
NM_015335.5(MED13L):c.4853C>G (p.Thr1618Ser)
|
rs150339628
|
0.00023
|
NM_018055.5(NODAL):c.548G>A (p.Arg183Gln)
|
rs104894169
|
0.00023
|
NM_000238.4(KCNH2):c.1946-9C>T
|
rs367997739
|
0.00022
|
NM_000238.4(KCNH2):c.2398+16C>T
|
rs201873431
|
0.00022
|
NM_000238.4(KCNH2):c.2941A>G (p.Ser981Gly)
|
rs76649554
|
0.00022
|
NM_000238.4(KCNH2):c.2948C>T (p.Thr983Ile)
|
rs149955375
|
0.00022
|
NM_000719.7(CACNA1C):c.4726+9G>A
|
rs369267978
|
0.00022
|
NM_001148.6(ANK2):c.10531C>T (p.Leu3511=)
|
rs148462839
|
0.00022
|
NM_001148.6(ANK2):c.2424C>T (p.Ser808=)
|
rs150598396
|
0.00022
|
NM_001308093.3(GATA4):c.72C>G (p.Gly24=)
|
rs746574040
|
0.00022
|
NM_003098.3(SNTA1):c.128G>A (p.Ser43Asn)
|
rs786205841
|
0.00022
|
NM_005159.5(ACTC1):c.513C>T (p.Tyr171=)
|
rs145023222
|
0.00022
|
NM_005257.6(GATA6):c.183G>A (p.Gly61=)
|
rs377217497
|
0.00022
|
NM_005257.6(GATA6):c.839G>C (p.Gly280Ala)
|
rs904519303
|
0.00022
|
NM_022114.4(PRDM16):c.1033-17G>T
|
rs374947232
|
0.00022
|
NM_022114.4(PRDM16):c.3498C>T (p.Ala1166=)
|
rs368383914
|
0.00022
|
NM_022114.4(PRDM16):c.438+15C>T
|
rs182265560
|
0.00022
|
NM_022114.4(PRDM16):c.884+13C>G
|
rs377312275
|
0.00022
|
NM_145054.5(CFAP52):c.138A>G (p.Thr46=)
|
rs376343886
|
0.00022
|
NM_145054.5(CFAP52):c.734C>T (p.Ala245Val)
|
rs146845939
|
0.00022
|
NM_000238.4(KCNH2):c.2965+18C>T
|
rs751311800
|
0.00021
|
NM_000238.4(KCNH2):c.441C>T (p.His147=)
|
rs143479939
|
0.00021
|
NM_000719.7(CACNA1C):c.3946-12G>A
|
rs41276706
|
0.00021
|
NM_000890.5(KCNJ5):c.645G>A (p.Leu215=)
|
rs147245544
|
0.00021
|
NM_001148.6(ANK2):c.8388G>A (p.Pro2796=)
|
rs369684289
|
0.00021
|
NM_001148.6(ANK2):c.997C>T (p.Leu333=)
|
rs201024064
|
0.00021
|
NM_001276345.2(TNNT2):c.200-11A>G
|
rs368658464
|
0.00021
|
NM_001308093.3(GATA4):c.726C>T (p.Cys242=)
|
rs1062215
|
0.00021
|
NM_003098.3(SNTA1):c.909+17G>T
|
rs376695170
|
0.00021
|
NM_003413.4(ZIC3):c.97G>T (p.Ala33Ser)
|
rs746833203
|
0.00021
|
NM_005257.6(GATA6):c.627C>A (p.Gly209=)
|
rs1051642564
|
0.00021
|
NM_005751.5(AKAP9):c.10518C>T (p.Thr3506=)
|
rs377663331
|
0.00021
|
NM_005751.5(AKAP9):c.11580T>G (p.Gly3860=)
|
rs756398963
|
0.00021
|
NM_005751.5(AKAP9):c.3246A>G (p.Ser1082=)
|
rs760173622
|
0.00021
|
NM_021005.4(NR2F2):c.834G>A (p.Ser278=)
|
rs199886454
|
0.00021
|
NM_022114.4(PRDM16):c.1797G>A (p.Ser599=)
|
rs201769516
|
0.00021
|
NM_022114.4(PRDM16):c.3109+9C>T
|
rs369808146
|
0.00021
|
NM_022114.4(PRDM16):c.646C>A (p.Pro216Thr)
|
rs368140002
|
0.00021
|
NM_174934.4(SCN4B):c.18C>A (p.Asp6Glu)
|
rs149979176
|
0.00021
|
NM_000218.3(KCNQ1):c.1352G>A (p.Arg451Gln)
|
rs199472781
|
0.00020
|
NM_000719.7(CACNA1C):c.2067C>T (p.Phe689=)
|
rs112170830
|
0.00020
|
NM_001148.6(ANK2):c.3963T>C (p.Ile1321=)
|
rs72901936
|
0.00020
|
NM_001148.6(ANK2):c.5240C>G (p.Pro1747Arg)
|
rs200628845
|
0.00020
|
NM_001148.6(ANK2):c.5523G>A (p.Arg1841=)
|
rs148234093
|
0.00020
|
NM_001386795.1(DTNA):c.126G>A (p.Arg42=)
|
rs376001633
|
0.00020
|
NM_001386795.1(DTNA):c.2283T>C (p.Asp761=)
|
rs187028045
|
0.00020
|
NM_003098.3(SNTA1):c.566C>T (p.Ser189Leu)
|
rs144860423
|
0.00020
|
NM_005257.6(GATA6):c.1755A>C (p.Arg585=)
|
rs971615402
|
0.00020
|
NM_015335.5(MED13L):c.5559C>T (p.Thr1853=)
|
rs141451756
|
0.00020
|
NM_022114.4(PRDM16):c.2172G>A (p.Ala724=)
|
rs773130347
|
0.00020
|
NM_033337.3(CAV3):c.115-13G>C
|
rs368367319
|
0.00020
|
NM_000219.6(KCNE1):c.112A>G (p.Ser38Gly)
|
rs1805127
|
0.00019
|
NM_000219.6(KCNE1):c.200G>A (p.Arg67His)
|
rs79654911
|
0.00019
|
NM_000219.6(KCNE1):c.83C>T (p.Ser28Leu)
|
rs199473350
|
0.00019
|
NM_000238.4(KCNH2):c.1923C>T (p.Ser641=)
|
rs142249065
|
0.00019
|
NM_000719.7(CACNA1C):c.2391G>A (p.Gly797=)
|
rs374857905
|
0.00019
|
NM_000719.7(CACNA1C):c.6018C>T (p.Ser2006=)
|
rs368817423
|
0.00019
|
NM_001148.6(ANK2):c.1638A>G (p.Ala546=)
|
rs372133055
|
0.00019
|
NM_001148.6(ANK2):c.385-6C>T
|
rs199939848
|
0.00019
|
NM_001148.6(ANK2):c.4310C>T (p.Thr1437Met)
|
rs142534126
|
0.00019
|
NM_001148.6(ANK2):c.4311G>A (p.Thr1437=)
|
rs374770898
|
0.00019
|
NM_001148.6(ANK2):c.7265G>A (p.Ser2422Asn)
|
rs140341680
|
0.00019
|
NM_001148.6(ANK2):c.8463C>A (p.Asp2821Glu)
|
rs780668435
|
0.00019
|
NM_001308093.3(GATA4):c.1126G>A (p.Gly376Arg)
|
rs149872786
|
0.00019
|
NM_001308093.3(GATA4):c.392C>G (p.Ala131Gly)
|
rs1013984246
|
0.00019
|
NM_001308093.3(GATA4):c.585G>C (p.Arg195=)
|
rs1040398846
|
0.00019
|
NM_001308093.3(GATA4):c.630C>T (p.Asp210=)
|
rs192122549
|
0.00019
|
NM_001386795.1(DTNA):c.1918T>C (p.Leu640=)
|
rs372620035
|
0.00019
|
NM_003098.3(SNTA1):c.1080C>T (p.Tyr360=)
|
rs141844806
|
0.00019
|
NM_003098.3(SNTA1):c.1157C>T (p.Pro386Leu)
|
rs200865199
|
0.00019
|
NM_003413.4(ZIC3):c.1194G>T (p.Thr398=)
|
rs143990850
|
0.00019
|
NM_005751.5(AKAP9):c.1204G>A (p.Glu402Lys)
|
rs146022334
|
0.00019
|
NM_005751.5(AKAP9):c.5601+17G>T
|
rs181593695
|
0.00019
|
NM_005751.5(AKAP9):c.5901G>A (p.Gln1967=)
|
rs574683571
|
0.00019
|
NM_005751.5(AKAP9):c.8161-7G>A
|
rs202218770
|
0.00019
|
NM_015335.5(MED13L):c.1316A>G (p.Asn439Ser)
|
rs189898124
|
0.00019
|
NM_015335.5(MED13L):c.201C>T (p.Asn67=)
|
rs144509091
|
0.00019
|
NM_015335.5(MED13L):c.4339-10A>G
|
rs376463996
|
0.00019
|
NM_021005.4(NR2F2):c.816C>G (p.Ala272=)
|
rs76163938
|
0.00019
|
NM_022114.4(PRDM16):c.1186+10C>T
|
rs368744559
|
0.00019
|
NM_033337.3(CAV3):c.306G>A (p.Ala102=)
|
rs149375325
|
0.00019
|
NM_172201.2(KCNE2):c.153G>T (p.Leu51=)
|
rs143767851
|
0.00019
|
NM_172201.2(KCNE2):c.354G>A (p.Gly118=)
|
rs187917779
|
0.00019
|
NM_174934.4(SCN4B):c.520A>G (p.Ile174Val)
|
rs377730779
|
0.00019
|
NM_000218.3(KCNQ1):c.19C>T (p.Pro7Ser)
|
rs199473443
|
0.00018
|
NM_000218.3(KCNQ1):c.605-11G>A
|
rs200828849
|
0.00018
|
NM_000219.6(KCNE1):c.118G>A (p.Gly40Ser)
|
rs778439872
|
0.00018
|
NM_000719.7(CACNA1C):c.1783G>A (p.Val595Ile)
|
rs201392574
|
0.00018
|
NM_000719.7(CACNA1C):c.4140+4G>A
|
rs111442547
|
0.00018
|
NM_001136271.3(NKX2-6):c.444G>A (p.Glu148=)
|
rs552633150
|
0.00018
|
NM_001148.6(ANK2):c.10702C>T (p.Arg3568Trp)
|
rs72556376
|
0.00018
|
NM_001148.6(ANK2):c.11060G>C (p.Cys3687Ser)
|
rs143803967
|
0.00018
|
NM_001148.6(ANK2):c.2836C>T (p.Arg946Cys)
|
rs200524407
|
0.00018
|
NM_001148.6(ANK2):c.6633C>T (p.Ala2211=)
|
rs143516811
|
0.00018
|
NM_001148.6(ANK2):c.8116G>C (p.Glu2706Gln)
|
rs142652341
|
0.00018
|
NM_001148.6(ANK2):c.9526G>T (p.Asp3176Tyr)
|
rs138928206
|
0.00018
|
NM_005184.4(CALM3):c.421+4A>G
|
rs373529765
|
0.00018
|
NM_005257.6(GATA6):c.1663C>G (p.Pro555Ala)
|
rs146243018
|
0.00018
|
NM_005751.5(AKAP9):c.9763A>G (p.Arg3255Gly)
|
rs201048693
|
0.00018
|
NM_022114.4(PRDM16):c.3051C>T (p.Phe1017=)
|
rs778222564
|
0.00018
|
NM_022114.4(PRDM16):c.456C>T (p.Gly152=)
|
rs576685798
|
0.00018
|
NM_022114.4(PRDM16):c.832G>A (p.Gly278Ser)
|
rs375316181
|
0.00018
|
NM_000238.4(KCNH2):c.3321G>A (p.Ser1107=)
|
rs189457419
|
0.00017
|
NM_000719.7(CACNA1C):c.1419C>T (p.Ser473=)
|
rs368065584
|
0.00017
|
NM_000719.7(CACNA1C):c.2712C>T (p.Asn904=)
|
rs144992959
|
0.00017
|
NM_000719.7(CACNA1C):c.4122C>T (p.Tyr1374=)
|
rs146868811
|
0.00017
|
NM_000719.7(CACNA1C):c.5106G>A (p.Leu1702=)
|
rs541967618
|
0.00017
|
NM_000890.5(KCNJ5):c.1123C>T (p.Arg375Trp)
|
rs142454198
|
0.00017
|
NM_001106.4(ACVR2B):c.1269G>A (p.Ser423=)
|
rs146067304
|
0.00017
|
NM_001148.6(ANK2):c.7148C>T (p.Pro2383Leu)
|
rs35960628
|
0.00017
|
NM_001148.6(ANK2):c.7183A>C (p.Thr2395Pro)
|
rs201693280
|
0.00017
|
NM_001308093.3(GATA4):c.1000+8A>G
|
rs368991642
|
0.00017
|
NM_003098.3(SNTA1):c.1088A>C (p.Glu363Ala)
|
rs147964932
|
0.00017
|
NM_003098.3(SNTA1):c.430T>G (p.Ser144Ala)
|
rs142978180
|
0.00017
|
NM_005751.5(AKAP9):c.4148+18G>C
|
rs375733678
|
0.00017
|
NM_005751.5(AKAP9):c.5661A>G (p.Gln1887=)
|
rs368222299
|
0.00017
|
NM_005751.5(AKAP9):c.9113G>A (p.Arg3038His)
|
rs756856124
|
0.00017
|
NM_015335.5(MED13L):c.5664A>G (p.Gln1888=)
|
rs143739741
|
0.00017
|
NM_015335.5(MED13L):c.969G>A (p.Met323Ile)
|
rs141207031
|
0.00017
|
NM_018055.5(NODAL):c.355C>T (p.Pro119Ser)
|
rs140876376
|
0.00017
|
NM_022114.4(PRDM16):c.252C>T (p.Phe84=)
|
rs370290776
|
0.00017
|
NM_022114.4(PRDM16):c.2566G>A (p.Ala856Thr)
|
rs377029492
|
0.00017
|
NM_022114.4(PRDM16):c.439-16G>A
|
rs374357486
|
0.00017
|
NM_022114.4(PRDM16):c.471C>T (p.Cys157=)
|
rs201912658
|
0.00017
|
NM_033337.3(CAV3):c.234G>A (p.Thr78=)
|
rs148846096
|
0.00017
|
NM_000218.3(KCNQ1):c.1354C>T (p.Arg452Trp)
|
rs140452381
|
0.00016
|
NM_000218.3(KCNQ1):c.1926C>T (p.Cys642=)
|
rs12720454
|
0.00016
|
NM_000219.6(KCNE1):c.238G>A (p.Val80Ile)
|
rs769368494
|
0.00016
|
NM_000238.4(KCNH2):c.1558-18C>A
|
rs760047606
|
0.00016
|
NM_000238.4(KCNH2):c.431A>T (p.Asp144Val)
|
rs146284716
|
0.00016
|
NM_000238.4(KCNH2):c.432C>T (p.Asp144=)
|
rs369314508
|
0.00016
|
NM_000719.7(CACNA1C):c.4944G>A (p.Ala1648=)
|
rs200330326
|
0.00016
|
NM_000719.7(CACNA1C):c.4957-15C>T
|
rs766975739
|
0.00016
|
NM_000719.7(CACNA1C):c.5119G>A (p.Val1707Ile)
|
rs147896322
|
0.00016
|
NM_000719.7(CACNA1C):c.5143C>A (p.Arg1715=)
|
rs373996684
|
0.00016
|
NM_000719.7(CACNA1C):c.6344G>C (p.Gly2115Ala)
|
rs199694744
|
0.00016
|
NM_000890.5(KCNJ5):c.630G>A (p.Met210Ile)
|
rs138295501
|
0.00016
|
NM_001106.4(ACVR2B):c.1452G>A (p.Ser484=)
|
rs56280856
|
0.00016
|
NM_001106.4(ACVR2B):c.960-19T>C
|
rs41285125
|
0.00016
|
NM_001148.6(ANK2):c.11032+19A>G
|
rs200769962
|
0.00016
|
NM_001148.6(ANK2):c.2080-18G>T
|
rs199937888
|
0.00016
|
NM_001148.6(ANK2):c.270G>T (p.Val90=)
|
rs376457094
|
0.00016
|
NM_001148.6(ANK2):c.4710C>T (p.Thr1570=)
|
rs554486974
|
0.00016
|
NM_001148.6(ANK2):c.7251T>C (p.Asp2417=)
|
rs201688836
|
0.00016
|
NM_001148.6(ANK2):c.792+8T>G
|
rs112086259
|
0.00016
|
NM_001148.6(ANK2):c.9682G>A (p.Val3228Met)
|
rs141013157
|
0.00016
|
NM_001308093.3(GATA4):c.8A>C (p.Gln3Pro)
|
rs374132087
|
0.00016
|
NM_001308094.2(GATA4):c.-6+2577C>A
|
rs769262495
|
0.00016
|
NM_001386795.1(DTNA):c.1485G>A (p.Ala495=)
|
rs397517443
|
0.00016
|
NM_005159.5(ACTC1):c.141G>T (p.Val47=)
|
rs1409682416
|
0.00016
|
NM_005257.6(GATA6):c.1027G>A (p.Ala343Thr)
|
rs142601402
|
0.00016
|
NM_005257.6(GATA6):c.271C>T (p.Pro91Ser)
|
rs766886560
|
0.00016
|
NM_005751.5(AKAP9):c.10406C>T (p.Thr3469Met)
|
rs746860114
|
0.00016
|
NM_005751.5(AKAP9):c.11297G>A (p.Arg3766Gln)
|
rs137892407
|
0.00016
|
NM_005751.5(AKAP9):c.2230G>A (p.Glu744Lys)
|
rs202091548
|
0.00016
|
NM_005751.5(AKAP9):c.3193A>G (p.Ser1065Gly)
|
rs185594755
|
0.00016
|
NM_005751.5(AKAP9):c.5404G>A (p.Asp1802Asn)
|
rs142263098
|
0.00016
|
NM_005751.5(AKAP9):c.6970A>G (p.Ile2324Val)
|
rs184676617
|
0.00016
|
NM_015335.5(MED13L):c.3517G>A (p.Gly1173Ser)
|
rs201987892
|
0.00016
|
NM_018055.5(NODAL):c.531T>C (p.Ala177=)
|
rs145468639
|
0.00016
|
NM_022114.4(PRDM16):c.1578G>A (p.Pro526=)
|
rs376747653
|
0.00016
|
NM_022114.4(PRDM16):c.2691+5G>A
|
rs375994227
|
0.00016
|
NM_033337.3(CAV3):c.144T>C (p.Pro48=)
|
rs149287333
|
0.00016
|
NM_000218.3(KCNQ1):c.1459G>A (p.Glu487Lys)
|
rs1205552952
|
0.00015
|
NM_000218.3(KCNQ1):c.217C>A (p.Pro73Thr)
|
rs199472676
|
0.00015
|
NM_000238.4(KCNH2):c.355G>C (p.Asp119His)
|
rs376308069
|
0.00015
|
NM_000719.7(CACNA1C):c.5644T>C (p.Ser1882Pro)
|
rs369438564
|
0.00015
|
NM_000719.7(CACNA1C):c.6040G>A (p.Val2014Ile)
|
rs199473660
|
0.00015
|
NM_000891.3(KCNJ2):c.1045G>A (p.Glu349Lys)
|
rs375330016
|
0.00015
|
NM_001106.4(ACVR2B):c.210C>T (p.Ile70=)
|
rs145456109
|
0.00015
|
NM_001148.6(ANK2):c.2592T>C (p.Pro864=)
|
rs138641014
|
0.00015
|
NM_001148.6(ANK2):c.5577C>T (p.Pro1859=)
|
rs371557308
|
0.00015
|
NM_001148.6(ANK2):c.5651C>T (p.Ser1884Leu)
|
rs150737736
|
0.00015
|
NM_001276345.2(TNNT2):c.692T>C (p.Ile231Thr)
|
rs45520032
|
0.00015
|
NM_001308093.3(GATA4):c.1029C>T (p.Pro343=)
|
rs368098911
|
0.00015
|
NM_003098.3(SNTA1):c.1032C>T (p.Ile344=)
|
rs541665582
|
0.00015
|
NM_005751.5(AKAP9):c.7886T>C (p.Val2629Ala)
|
rs199909093
|
0.00015
|
NM_005751.5(AKAP9):c.9669T>C (p.Ala3223=)
|
rs139192857
|
0.00015
|
NM_015335.5(MED13L):c.878C>T (p.Pro293Leu)
|
rs537593859
|
0.00015
|
NM_018055.5(NODAL):c.607G>A (p.Glu203Lys)
|
rs10999334
|
0.00015
|
NM_021005.4(NR2F2):c.970+18C>A
|
rs373488143
|
0.00015
|
NM_022114.4(PRDM16):c.1738G>A (p.Glu580Lys)
|
rs371024796
|
0.00015
|
NM_022114.4(PRDM16):c.2748G>A (p.Ala916=)
|
rs370768364
|
0.00015
|
NM_022114.4(PRDM16):c.439-17C>T
|
rs370432632
|
0.00015
|
NM_000218.3(KCNQ1):c.1110G>A (p.Ala370=)
|
rs1805118
|
0.00014
|
NM_000218.3(KCNQ1):c.567G>T (p.Gly189=)
|
rs200669271
|
0.00014
|
NM_000219.6(KCNE1):c.325G>A (p.Val109Ile)
|
rs77442996
|
0.00014
|
NM_000719.7(CACNA1C):c.1002C>T (p.Pro334=)
|
rs112002520
|
0.00014
|
NM_000719.7(CACNA1C):c.1114-416G>A
|
rs187604163
|
0.00014
|
NM_000719.7(CACNA1C):c.202G>A (p.Ala68Thr)
|
rs752000790
|
0.00014
|
NM_000719.7(CACNA1C):c.3209+12T>C
|
rs372982213
|
0.00014
|
NM_000719.7(CACNA1C):c.35A>T (p.Glu12Val)
|
rs751212715
|
0.00014
|
NM_000719.7(CACNA1C):c.4075-4C>A
|
rs369044605
|
0.00014
|
NM_000719.7(CACNA1C):c.4322C>T (p.Thr1441Met)
|
rs727503835
|
0.00014
|
NM_000719.7(CACNA1C):c.6006C>T (p.Gly2002=)
|
rs373253192
|
0.00014
|
NM_000891.3(KCNJ2):c.174C>T (p.Phe58=)
|
rs587781006
|
0.00014
|
NM_001106.4(ACVR2B):c.112C>T (p.Leu38=)
|
rs767336154
|
0.00014
|
NM_001148.6(ANK2):c.1077T>C (p.Asp359=)
|
rs368291932
|
0.00014
|
NM_001148.6(ANK2):c.2110C>G (p.Gln704Glu)
|
rs139197937
|
0.00014
|
NM_001148.6(ANK2):c.2190A>T (p.Thr730=)
|
rs775084946
|
0.00014
|
NM_001148.6(ANK2):c.2249A>G (p.Gln750Arg)
|
rs371787039
|
0.00014
|
NM_001148.6(ANK2):c.2850C>A (p.Gly950=)
|
rs189563238
|
0.00014
|
NM_001148.6(ANK2):c.4372-7C>T
|
rs370720661
|
0.00014
|
NM_001148.6(ANK2):c.5457G>A (p.Ala1819=)
|
rs138113206
|
0.00014
|
NM_001148.6(ANK2):c.6854T>C (p.Ile2285Thr)
|
rs150684838
|
0.00014
|
NM_001148.6(ANK2):c.7525C>T (p.Leu2509=)
|
rs199591964
|
0.00014
|
NM_001148.6(ANK2):c.8631A>T (p.Thr2877=)
|
rs374164682
|
0.00014
|
NM_001148.6(ANK2):c.9967A>G (p.Ser3323Gly)
|
rs148357205
|
0.00014
|
NM_001308093.3(GATA4):c.90G>A (p.Ala30=)
|
rs768982638
|
0.00014
|
NM_003098.3(SNTA1):c.287G>C (p.Gly96Ala)
|
rs766925398
|
0.00014
|
NM_003098.3(SNTA1):c.40G>A (p.Glu14Lys)
|
rs786205846
|
0.00014
|
NM_003413.4(ZIC3):c.1342G>A (p.Val448Ile)
|
rs375086818
|
0.00014
|
NM_003413.4(ZIC3):c.326C>G (p.Ser109Cys)
|
rs373628598
|
0.00014
|
NM_005159.5(ACTC1):c.130-9T>C
|
rs147406641
|
0.00014
|
NM_005184.4(CALM3):c.309C>T (p.Ala103=)
|
rs200095251
|
0.00014
|
NM_005257.6(GATA6):c.551G>A (p.Ser184Asn)
|
rs387906816
|
0.00014
|
NM_005751.5(AKAP9):c.10221G>A (p.Glu3407=)
|
rs200711005
|
0.00014
|
NM_005751.5(AKAP9):c.10741T>G (p.Cys3581Gly)
|
rs149819328
|
0.00014
|
NM_005751.5(AKAP9):c.11714T>C (p.Met3905Thr)
|
rs77447750
|
0.00014
|
NM_005751.5(AKAP9):c.1900G>A (p.Glu634Lys)
|
rs368006874
|
0.00014
|
NM_005751.5(AKAP9):c.3164C>A (p.Ser1055Tyr)
|
rs373730126
|
0.00014
|
NM_005751.5(AKAP9):c.4190A>G (p.Gln1397Arg)
|
rs139612565
|
0.00014
|
NM_005751.5(AKAP9):c.5048C>T (p.Thr1683Met)
|
rs146305558
|
0.00014
|
NM_005751.5(AKAP9):c.717G>A (p.Gln239=)
|
rs370346906
|
0.00014
|
NM_005751.5(AKAP9):c.7212C>T (p.Thr2404=)
|
rs146854871
|
0.00014
|
NM_005751.5(AKAP9):c.9537C>G (p.Leu3179=)
|
rs143138024
|
0.00014
|
NM_022114.4(PRDM16):c.1187-10G>C
|
rs201517837
|
0.00014
|
NM_022114.4(PRDM16):c.1706C>T (p.Thr569Met)
|
rs200647136
|
0.00014
|
NM_022114.4(PRDM16):c.1815G>A (p.Glu605=)
|
rs566856228
|
0.00014
|
NM_022114.4(PRDM16):c.2154G>A (p.Ser718=)
|
rs781041726
|
0.00014
|
NM_022114.4(PRDM16):c.3406G>A (p.Gly1136Arg)
|
rs775245244
|
0.00014
|
NM_022114.4(PRDM16):c.3544G>A (p.Gly1182Ser)
|
rs201703870
|
0.00014
|
NM_022114.4(PRDM16):c.3675G>C (p.Leu1225=)
|
rs201038279
|
0.00014
|
NM_145020.5(CFAP53):c.945A>G (p.Gln315=)
|
rs368815693
|
0.00014
|
NM_145054.5(CFAP52):c.243C>T (p.Ser81=)
|
rs373499244
|
0.00014
|
NM_000218.3(KCNQ1):c.111G>C (p.Ser37=)
|
rs750088311
|
0.00013
|
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp)
|
rs199472776
|
0.00013
|
NM_000218.3(KCNQ1):c.759C>T (p.Ser253=)
|
rs752457145
|
0.00013
|
NM_000218.3(KCNQ1):c.820A>G (p.Ile274Val)
|
rs199472728
|
0.00013
|
NM_000219.6(KCNE1):c.8T>C (p.Leu3Pro)
|
rs567021150
|
0.00013
|
NM_000238.4(KCNH2):c.2412C>A (p.Ile804=)
|
rs551139237
|
0.00013
|
NM_000238.4(KCNH2):c.2692+7C>T
|
rs372023163
|
0.00013
|
NM_000238.4(KCNH2):c.3107G>A (p.Gly1036Asp)
|
rs199473022
|
0.00013
|
NM_000238.4(KCNH2):c.473-7C>T
|
rs146570628
|
0.00013
|
NM_000719.7(CACNA1C):c.1113+7A>G
|
rs369423529
|
0.00013
|
NM_000719.7(CACNA1C):c.4829-8C>T
|
rs370969487
|
0.00013
|
NM_000719.7(CACNA1C):c.6034C>T (p.Arg2012Trp)
|
rs553500083
|
0.00013
|
NM_000890.5(KCNJ5):c.439G>A (p.Glu147Lys)
|
rs148355179
|
0.00013
|
NM_000891.3(KCNJ2):c.1244C>T (p.Pro415Leu)
|
rs373799322
|
0.00013
|
NM_001106.4(ACVR2B):c.527C>G (p.Pro176Arg)
|
rs35882617
|
0.00013
|
NM_001136271.3(NKX2-6):c.468C>T (p.Tyr156=)
|
rs750361656
|
0.00013
|
NM_001148.6(ANK2):c.11119G>A (p.Asp3707Asn)
|
rs199549660
|
0.00013
|
NM_001148.6(ANK2):c.2144C>T (p.Thr715Ile)
|
rs199681788
|
0.00013
|
NM_001148.6(ANK2):c.7061G>A (p.Arg2354His)
|
rs139616911
|
0.00013
|
NM_001148.6(ANK2):c.7436A>G (p.Lys2479Arg)
|
rs201619005
|
0.00013
|
NM_001148.6(ANK2):c.8239C>T (p.Arg2747Cys)
|
rs376628082
|
0.00013
|
NM_001148.6(ANK2):c.85-4G>A
|
rs377576219
|
0.00013
|
NM_001148.6(ANK2):c.8892C>G (p.Ile2964Met)
|
rs62313245
|
0.00013
|
NM_001148.6(ANK2):c.9060C>T (p.Ser3020=)
|
rs372511706
|
0.00013
|
NM_001308093.3(GATA4):c.1125C>T (p.Tyr375=)
|
rs56330552
|
0.00013
|
NM_001386795.1(DTNA):c.1847C>T (p.Thr616Met)
|
rs199556035
|
0.00013
|
NM_001386795.1(DTNA):c.1936G>T (p.Val646Leu)
|
rs191002814
|
0.00013
|
NM_003098.3(SNTA1):c.311-20C>T
|
rs200764326
|
0.00013
|
NM_004387.4(NKX2-5):c.823C>A (p.Pro275Thr)
|
rs368366482
|
0.00013
|
NM_005751.5(AKAP9):c.2311G>A (p.Ala771Thr)
|
rs148267537
|
0.00013
|
NM_005751.5(AKAP9):c.3192A>G (p.Glu1064=)
|
rs375586792
|
0.00013
|
NM_005751.5(AKAP9):c.3934A>C (p.Thr1312Pro)
|
rs139337441
|
0.00013
|
NM_006888.6(CALM1):c.324C>T (p.His108=)
|
rs139706811
|
0.00013
|
NM_015335.5(MED13L):c.3063C>T (p.Pro1021=)
|
rs142191700
|
0.00013
|
NM_015335.5(MED13L):c.3498G>T (p.Ala1166=)
|
rs200960898
|
0.00013
|
NM_022114.4(PRDM16):c.1033-10G>A
|
rs370090853
|
0.00013
|
NM_022114.4(PRDM16):c.1363G>A (p.Gly455Ser)
|
rs536908705
|
0.00013
|
NM_022114.4(PRDM16):c.1574G>A (p.Arg525Gln)
|
rs373011563
|
0.00013
|
NM_022114.4(PRDM16):c.1668G>A (p.Leu556=)
|
rs372910329
|
0.00013
|
NM_022114.4(PRDM16):c.884+7C>T
|
rs373228175
|
0.00013
|
NM_145054.5(CFAP52):c.1592T>C (p.Val531Ala)
|
rs529314545
|
0.00013
|
NM_145054.5(CFAP52):c.1641G>A (p.Ser547=)
|
rs143049274
|
0.00013
|
NM_145054.5(CFAP52):c.1701T>C (p.His567=)
|
rs776124001
|
0.00013
|
NM_172201.2(KCNE2):c.-13+5G>A
|
rs786205806
|
0.00013
|
NM_000219.6(KCNE1):c.162C>T (p.Phe54=)
|
rs17173508
|
0.00012
|
NM_000238.4(KCNH2):c.3348G>A (p.Ala1116=)
|
rs376180501
|
0.00012
|
NM_000719.7(CACNA1C):c.3510G>A (p.Gln1170=)
|
rs372745326
|
0.00012
|
NM_000719.7(CACNA1C):c.5375A>G (p.Glu1792Gly)
|
rs374177870
|
0.00012
|
NM_000719.7(CACNA1C):c.5593G>A (p.Glu1865Lys)
|
rs200231105
|
0.00012
|
NM_001106.4(ACVR2B):c.1410C>T (p.Ser470=)
|
rs141985115
|
0.00012
|
NM_001136271.3(NKX2-6):c.593T>C (p.Leu198Pro)
|
rs368111443
|
0.00012
|
NM_001148.6(ANK2):c.3033C>T (p.Arg1011=)
|
rs142052072
|
0.00012
|
NM_001148.6(ANK2):c.7117A>G (p.Thr2373Ala)
|
rs184514058
|
0.00012
|
NM_001148.6(ANK2):c.8903T>C (p.Val2968Ala)
|
rs751095004
|
0.00012
|
NM_001148.6(ANK2):c.9853A>C (p.Ile3285Leu)
|
rs144603824
|
0.00012
|
NM_003098.3(SNTA1):c.1425+18del
|
rs746145193
|
0.00012
|
NM_005159.5(ACTC1):c.1092C>T (p.Tyr364=)
|
rs140261885
|
0.00012
|
NM_005257.6(GATA6):c.714A>C (p.Gly238=)
|
rs1000227951
|
0.00012
|
NM_005257.6(GATA6):c.735G>A (p.Gly245=)
|
rs1031755167
|
0.00012
|
NM_005751.5(AKAP9):c.10145A>C (p.Lys3382Thr)
|
rs147033628
|
0.00012
|
NM_005751.5(AKAP9):c.2475T>G (p.Leu825=)
|
rs200078353
|
0.00012
|
NM_005751.5(AKAP9):c.5058+12T>G
|
rs373705132
|
0.00012
|
NM_005751.5(AKAP9):c.931-16A>T
|
rs527365987
|
0.00012
|
NM_006888.6(CALM1):c.3+13T>C
|
rs745827400
|
0.00012
|
NM_015335.5(MED13L):c.4989G>A (p.Thr1663=)
|
rs755349611
|
0.00012
|
NM_018055.5(NODAL):c.662G>A (p.Arg221Gln)
|
rs138681813
|
0.00012
|
NM_022114.4(PRDM16):c.21G>A (p.Ala7=)
|
rs370334235
|
0.00012
|
NM_022114.4(PRDM16):c.2426G>C (p.Ser809Thr)
|
rs765866896
|
0.00012
|
NM_022114.4(PRDM16):c.2797C>T (p.Arg933Trp)
|
rs371460126
|
0.00012
|
NM_022114.4(PRDM16):c.3283C>T (p.Arg1095Trp)
|
rs201439415
|
0.00012
|
NM_000218.3(KCNQ1):c.1388G>C (p.Ser463Thr)
|
rs184636161
|
0.00011
|
NM_000218.3(KCNQ1):c.1476A>G (p.Glu492=)
|
rs370676650
|
0.00011
|
NM_000218.3(KCNQ1):c.671C>T (p.Thr224Met)
|
rs199472706
|
0.00011
|
NM_000219.6(KCNE1):c.23C>T (p.Ala8Val)
|
rs199473348
|
0.00011
|
NM_000238.4(KCNH2):c.1641G>A (p.Ala547=)
|
rs149902084
|
0.00011
|
NM_000238.4(KCNH2):c.2616C>T (p.Pro872=)
|
rs374296728
|
0.00011
|
NM_000238.4(KCNH2):c.3089C>T (p.Pro1030Leu)
|
rs904066540
|
0.00011
|
NM_000719.7(CACNA1C):c.1508+15C>T
|
rs776362233
|
0.00011
|
NM_000719.7(CACNA1C):c.212C>T (p.Ala71Val)
|
rs755579963
|
0.00011
|
NM_000719.7(CACNA1C):c.4727-9G>A
|
rs757966245
|
0.00011
|
NM_000719.7(CACNA1C):c.4942G>A (p.Ala1648Thr)
|
rs370432385
|
0.00011
|
NM_000890.5(KCNJ5):c.133G>A (p.Glu45Lys)
|
rs372447456
|
0.00011
|
NM_000891.3(KCNJ2):c.132G>A (p.Arg44=)
|
rs551369705
|
0.00011
|
NM_000891.3(KCNJ2):c.168T>C (p.Val56=)
|
rs370111593
|
0.00011
|
NM_000891.3(KCNJ2):c.616G>A (p.Gly206Ser)
|
rs141035459
|
0.00011
|
NM_001136271.3(NKX2-6):c.171C>A (p.Asn57Lys)
|
rs558299051
|
0.00011
|
NM_001148.6(ANK2):c.11641A>G (p.Thr3881Ala)
|
rs373688313
|
0.00011
|
NM_001148.6(ANK2):c.1673T>C (p.Leu558Ser)
|
rs139199018
|
0.00011
|
NM_001148.6(ANK2):c.4287A>G (p.Ser1429=)
|
rs72556369
|
0.00011
|
NM_001148.6(ANK2):c.609C>T (p.Asp203=)
|
rs946382221
|
0.00011
|
NM_001148.6(ANK2):c.7266C>T (p.Ser2422=)
|
rs150349588
|
0.00011
|
NM_001148.6(ANK2):c.7341T>C (p.Ser2447=)
|
rs138010625
|
0.00011
|
NM_001148.6(ANK2):c.792+15A>G
|
rs375914552
|
0.00011
|
NM_001148.6(ANK2):c.8144C>T (p.Ser2715Phe)
|
rs147619875
|
0.00011
|
NM_001148.6(ANK2):c.9690G>A (p.Thr3230=)
|
rs755430079
|
0.00011
|
NM_001148.6(ANK2):c.9841C>G (p.Gln3281Glu)
|
rs372534074
|
0.00011
|
NM_001276345.2(TNNT2):c.852-19C>T
|
rs759855940
|
0.00011
|
NM_001308093.3(GATA4):c.246C>A (p.Thr82=)
|
rs1037655842
|
0.00011
|
NM_001386795.1(DTNA):c.1652G>A (p.Arg551His)
|
rs142108185
|
0.00011
|
NM_003098.3(SNTA1):c.815C>T (p.Thr272Met)
|
rs144465646
|
0.00011
|
NM_003413.4(ZIC3):c.739A>G (p.Ile247Val)
|
rs377356678
|
0.00011
|
NM_004387.4(NKX2-5):c.885C>G (p.Phe295Leu)
|
rs150581386
|
0.00011
|
NM_005751.5(AKAP9):c.10220A>C (p.Glu3407Ala)
|
rs781775348
|
0.00011
|
NM_005751.5(AKAP9):c.1226A>C (p.His409Pro)
|
rs138535219
|
0.00011
|
NM_005751.5(AKAP9):c.1334T>C (p.Ile445Thr)
|
rs147302252
|
0.00011
|
NM_005751.5(AKAP9):c.4625A>G (p.Lys1542Arg)
|
rs141987389
|
0.00011
|
NM_005751.5(AKAP9):c.5532G>C (p.Leu1844=)
|
rs765888359
|
0.00011
|
NM_005751.5(AKAP9):c.5725G>A (p.Ala1909Thr)
|
rs200844952
|
0.00011
|
NM_005751.5(AKAP9):c.610G>A (p.Asp204Asn)
|
rs148920964
|
0.00011
|
NM_005751.5(AKAP9):c.6676G>A (p.Val2226Ile)
|
rs561591139
|
0.00011
|
NM_005751.5(AKAP9):c.7628T>C (p.Leu2543Pro)
|
rs373320584
|
0.00011
|
NM_015335.5(MED13L):c.2292G>A (p.Pro764=)
|
rs754150111
|
0.00011
|
NM_015335.5(MED13L):c.3079G>A (p.Ala1027Thr)
|
rs757625355
|
0.00011
|
NM_015335.5(MED13L):c.4767G>A (p.Ser1589=)
|
rs573917510
|
0.00011
|
NM_015335.5(MED13L):c.5508G>A (p.Gln1836=)
|
rs150860907
|
0.00011
|
NM_015335.5(MED13L):c.5563G>A (p.Val1855Ile)
|
rs182752795
|
0.00011
|
NM_018055.5(NODAL):c.1020C>T (p.Ile340=)
|
rs142286836
|
0.00011
|
NM_022114.4(PRDM16):c.1545G>A (p.Pro515=)
|
rs34992735
|
0.00011
|
NM_022114.4(PRDM16):c.1709C>T (p.Thr570Met)
|
rs138655327
|
0.00011
|
NM_022114.4(PRDM16):c.1719G>A (p.Ala573=)
|
rs374254884
|
0.00011
|
NM_022114.4(PRDM16):c.2386G>A (p.Ala796Thr)
|
rs367879720
|
0.00011
|
NM_022114.4(PRDM16):c.3221C>T (p.Ser1074Leu)
|
rs572178955
|
0.00011
|
NM_022114.4(PRDM16):c.3453C>T (p.Ala1151=)
|
rs966858972
|
0.00011
|
NM_022114.4(PRDM16):c.42C>T (p.Asp14=)
|
rs540560495
|
0.00011
|
NM_022114.4(PRDM16):c.675C>T (p.Asp225=)
|
rs535076398
|
0.00011
|
NM_033337.3(CAV3):c.125A>C (p.Glu42Ala)
|
rs137901165
|
0.00011
|
NM_033337.3(CAV3):c.28G>A (p.Glu10Lys)
|
rs139786391
|
0.00011
|
NM_000218.3(KCNQ1):c.387-18C>T
|
rs377350869
|
0.00010
|
NM_000238.4(KCNH2):c.1881C>T (p.Phe627=)
|
rs199473039
|
0.00010
|
NM_000238.4(KCNH2):c.2681G>A (p.Arg894His)
|
rs199473668
|
0.00010
|
NM_000238.4(KCNH2):c.2739G>A (p.Ala913=)
|
rs776097223
|
0.00010
|
NM_000238.4(KCNH2):c.2769G>A (p.Pro923=)
|
rs557789224
|
0.00010
|
NM_000238.4(KCNH2):c.2944G>A (p.Asp982Asn)
|
rs569452580
|
0.00010
|
NM_000238.4(KCNH2):c.3390A>G (p.Glu1130=)
|
rs41313068
|
0.00010
|
NM_000238.4(KCNH2):c.777C>T (p.Asp259=)
|
rs887354896
|
0.00010
|
NM_000719.7(CACNA1C):c.1669+8G>A
|
rs762675533
|
0.00010
|
NM_000719.7(CACNA1C):c.1753G>A (p.Val585Met)
|
rs763738559
|
0.00010
|
NM_000719.7(CACNA1C):c.1872G>A (p.Leu624=)
|
rs202227691
|
0.00010
|
NM_000719.7(CACNA1C):c.1953C>T (p.Ile651=)
|
rs762656408
|
0.00010
|
NM_000719.7(CACNA1C):c.2664-19T>C
|
rs760046431
|
0.00010
|
NM_000719.7(CACNA1C):c.4233-4C>T
|
rs769538757
|
0.00010
|
NM_000719.7(CACNA1C):c.4624-8G>A
|
rs529345041
|
0.00010
|
NM_000719.7(CACNA1C):c.477+14C>T
|
rs371836468
|
0.00010
|
NM_000719.7(CACNA1C):c.5022C>T (p.Thr1674=)
|
rs372300407
|
0.00010
|
NM_000719.7(CACNA1C):c.5717G>A (p.Arg1906Gln)
|
rs758166168
|
0.00010
|
NM_000719.7(CACNA1C):c.865C>A (p.Leu289Ile)
|
rs770311259
|
0.00010
|
NM_000891.3(KCNJ2):c.867C>T (p.Asn289=)
|
rs201909993
|
0.00010
|
NM_001106.4(ACVR2B):c.370+20G>T
|
rs370286614
|
0.00010
|
NM_001148.6(ANK2):c.10134C>T (p.Asp3378=)
|
rs549375755
|
0.00010
|
NM_001148.6(ANK2):c.10627A>G (p.Ile3543Val)
|
rs753102215
|
0.00010
|
NM_001148.6(ANK2):c.10805G>A (p.Arg3602Gln)
|
rs374991526
|
0.00010
|
NM_001148.6(ANK2):c.1119G>A (p.Ala373=)
|
rs139123934
|
0.00010
|
NM_001148.6(ANK2):c.11230A>C (p.Thr3744Pro)
|
rs372212045
|
0.00010
|
NM_001148.6(ANK2):c.1899A>G (p.Leu633=)
|
rs377608305
|
0.00010
|
NM_001148.6(ANK2):c.3074G>C (p.Gly1025Ala)
|
rs773532854
|
0.00010
|
NM_001148.6(ANK2):c.4220A>G (p.Lys1407Arg)
|
rs200648573
|
0.00010
|
NM_001148.6(ANK2):c.7868C>G (p.Ser2623Cys)
|
rs116253689
|
0.00010
|
NM_001148.6(ANK2):c.8097G>A (p.Met2699Ile)
|
rs148904454
|
0.00010
|
NM_001148.6(ANK2):c.8673C>T (p.Pro2891=)
|
rs374884110
|
0.00010
|
NM_001148.6(ANK2):c.9116A>G (p.Asp3039Gly)
|
rs140539843
|
0.00010
|
NM_001148.6(ANK2):c.961C>T (p.Arg321Trp)
|
rs753032598
|
0.00010
|
NM_001148.6(ANK2):c.962G>A (p.Arg321Gln)
|
rs150226540
|
0.00010
|
NM_001276345.2(TNNT2):c.852-23A>G
|
rs371692788
|
0.00010
|
NM_001308093.3(GATA4):c.1152G>A (p.Thr384=)
|
rs147958528
|
0.00010
|
NM_001308093.3(GATA4):c.1223C>A (p.Pro408Gln)
|
rs115099192
|
0.00010
|
NM_001308093.3(GATA4):c.15G>A (p.Leu5=)
|
rs55635838
|
0.00010
|
NM_001308093.3(GATA4):c.280G>A (p.Ala94Thr)
|
rs780764610
|
0.00010
|
NM_001386795.1(DTNA):c.614C>T (p.Thr205Met)
|
rs201071018
|
0.00010
|
NM_004821.3(HAND1):c.202G>C (p.Ala68Pro)
|
rs374965548
|
0.00010
|
NM_004821.3(HAND1):c.252G>A (p.Arg84=)
|
rs576744103
|
0.00010
|
NM_004821.3(HAND1):c.454A>G (p.Lys152Glu)
|
rs762375465
|
0.00010
|
NM_005159.5(ACTC1):c.84G>T (p.Ala28=)
|
rs1008290796
|
0.00010
|
NM_005257.6(GATA6):c.237G>C (p.Leu79=)
|
rs772338637
|
0.00010
|
NM_005257.6(GATA6):c.259C>T (p.Pro87Ser)
|
rs563978220
|
0.00010
|
NM_005257.6(GATA6):c.726T>C (p.Ala242=)
|
rs1310939981
|
0.00010
|
NM_005751.5(AKAP9):c.10547G>A (p.Arg3516Lys)
|
rs200288508
|
0.00010
|
NM_005751.5(AKAP9):c.126G>A (p.Thr42=)
|
rs186969744
|
0.00010
|
NM_005751.5(AKAP9):c.4598G>A (p.Ser1533Asn)
|
rs541209445
|
0.00010
|
NM_005751.5(AKAP9):c.461C>T (p.Pro154Leu)
|
rs768097461
|
0.00010
|
NM_005751.5(AKAP9):c.4800A>G (p.Glu1600=)
|
rs138765069
|
0.00010
|
NM_005751.5(AKAP9):c.5035C>T (p.Arg1679Cys)
|
rs200044616
|
0.00010
|
NM_005751.5(AKAP9):c.8711-8T>C
|
rs367764105
|
0.00010
|
NM_005751.5(AKAP9):c.9970G>A (p.Ala3324Thr)
|
rs182048899
|
0.00010
|
NM_015335.5(MED13L):c.1447C>A (p.Pro483Thr)
|
rs558160659
|
0.00010
|
NM_015335.5(MED13L):c.1970A>T (p.Asp657Val)
|
rs775442091
|
0.00010
|
NM_015335.5(MED13L):c.2682A>G (p.Ala894=)
|
rs146390612
|
0.00010
|
NM_015335.5(MED13L):c.650A>C (p.Asn217Thr)
|
rs772021396
|
0.00010
|
NM_015335.5(MED13L):c.656C>T (p.Thr219Met)
|
rs191743300
|
0.00010
|
NM_022114.4(PRDM16):c.1953C>A (p.Gly651=)
|
rs780589589
|
0.00010
|
NM_022114.4(PRDM16):c.2223G>A (p.Thr741=)
|
rs756779855
|
0.00010
|
NM_022114.4(PRDM16):c.615G>A (p.Glu205=)
|
rs370059347
|
0.00010
|
NM_022114.4(PRDM16):c.714C>A (p.Leu238=)
|
rs371540074
|
0.00010
|
NM_033337.3(CAV3):c.168C>T (p.Gly56=)
|
rs116840774
|
0.00010
|
NM_145020.5(CFAP53):c.1153G>T (p.Ala385Ser)
|
rs548963057
|
0.00010
|
NM_145020.5(CFAP53):c.1282G>T (p.Glu428Ter)
|
rs199505634
|
0.00010
|
NM_174934.4(SCN4B):c.617C>T (p.Ser206Leu)
|
rs140348243
|
0.00010
|
NM_000218.3(KCNQ1):c.1033-12A>G
|
rs200423553
|
0.00009
|
NM_000218.3(KCNQ1):c.1152C>T (p.Ala384=)
|
rs144615901
|
0.00009
|
NM_000218.3(KCNQ1):c.1458C>T (p.Ala486=)
|
rs200275211
|
0.00009
|
NM_000218.3(KCNQ1):c.328G>A (p.Val110Ile)
|
rs199472677
|
0.00009
|
NM_000219.6(KCNE1):c.225C>T (p.Asn75=)
|
rs79175878
|
0.00009
|
NM_000238.4(KCNH2):c.1129-6G>T
|
rs555400904
|
0.00009
|
NM_000238.4(KCNH2):c.1284G>A (p.Ser428=)
|
rs371864051
|
0.00009
|
NM_000238.4(KCNH2):c.1635C>T (p.Tyr545=)
|
rs200692436
|
0.00009
|
NM_000238.4(KCNH2):c.1800C>T (p.Ser600=)
|
rs143518632
|
0.00009
|
NM_000238.4(KCNH2):c.1946-19C>T
|
rs369192064
|
0.00009
|
NM_000238.4(KCNH2):c.2145+9A>T
|
rs371749379
|
0.00009
|
NM_000238.4(KCNH2):c.3120C>T (p.Ser1040=)
|
rs543615478
|
0.00009
|
NM_000238.4(KCNH2):c.3203A>G (p.Gln1068Arg)
|
rs151031345
|
0.00009
|
NM_000238.4(KCNH2):c.3228C>T (p.Pro1076=)
|
rs41312087
|
0.00009
|
NM_000238.4(KCNH2):c.865G>A (p.Glu289Lys)
|
rs199472880
|
0.00009
|
NM_000719.7(CACNA1C):c.1114-291G>A
|
rs375370446
|
0.00009
|
NM_000719.7(CACNA1C):c.1332C>T (p.Ala444=)
|
rs202027411
|
0.00009
|
NM_000719.7(CACNA1C):c.1341C>T (p.Ile447=)
|
rs377643814
|
0.00009
|
NM_000719.7(CACNA1C):c.1509-12T>G
|
rs200412525
|
0.00009
|
NM_000719.7(CACNA1C):c.1734G>A (p.Leu578=)
|
rs150692845
|
0.00009
|
NM_000719.7(CACNA1C):c.3969C>T (p.Ile1323=)
|
rs201345843
|
0.00009
|
NM_000719.7(CACNA1C):c.3988C>T (p.Leu1330=)
|
rs1455874684
|
0.00009
|
NM_000719.7(CACNA1C):c.459C>T (p.Asn153=)
|
rs367638447
|
0.00009
|
NM_000719.7(CACNA1C):c.4659C>T (p.Asp1553=)
|
rs563090568
|
0.00009
|
NM_000719.7(CACNA1C):c.5092-16T>C
|
rs772454813
|
0.00009
|
NM_000719.7(CACNA1C):c.5138A>G (p.Asp1713Gly)
|
rs769297492
|
0.00009
|
NM_000719.7(CACNA1C):c.5235C>T (p.His1745=)
|
rs201861473
|
0.00009
|
NM_000719.7(CACNA1C):c.5444+719G>A
|
rs765829807
|
0.00009
|
NM_000719.7(CACNA1C):c.5550G>A (p.Glu1850=)
|
rs367783859
|
0.00009
|
NM_000719.7(CACNA1C):c.6116C>G (p.Ala2039Gly)
|
rs549476254
|
0.00009
|
NM_000719.7(CACNA1C):c.798C>T (p.Val266=)
|
rs758394964
|
0.00009
|
NM_000719.7(CACNA1C):c.906G>A (p.Glu302=)
|
rs367860917
|
0.00009
|
NM_000719.7(CACNA1C):c.927A>G (p.Ala309=)
|
rs369079645
|
0.00009
|
NM_000890.5(KCNJ5):c.1151C>G (p.Pro384Arg)
|
rs148307402
|
0.00009
|
NM_000890.5(KCNJ5):c.312C>T (p.Phe104=)
|
rs201217363
|
0.00009
|
NM_000890.5(KCNJ5):c.792C>T (p.Gly264=)
|
rs750600982
|
0.00009
|
NM_000891.3(KCNJ2):c.327C>T (p.Leu109=)
|
rs140274795
|
0.00009
|
NM_000891.3(KCNJ2):c.60G>A (p.Lys20=)
|
rs768120590
|
0.00009
|
NM_001148.6(ANK2):c.10975C>T (p.Arg3659Cys)
|
rs370699621
|
0.00009
|
NM_001148.6(ANK2):c.11181C>T (p.Gly3727=)
|
rs185569619
|
0.00009
|
NM_001148.6(ANK2):c.1136G>T (p.Arg379Leu)
|
rs186264035
|
0.00009
|
NM_001148.6(ANK2):c.2060A>G (p.Asn687Ser)
|
rs29372
|
0.00009
|
NM_001148.6(ANK2):c.2127T>C (p.Asn709=)
|
rs113454484
|
0.00009
|
NM_001148.6(ANK2):c.2712C>T (p.Ser904=)
|
rs149310669
|
0.00009
|
NM_001148.6(ANK2):c.2796+17C>T
|
rs201815173
|
0.00009
|
NM_001148.6(ANK2):c.4146C>T (p.Tyr1382=)
|
rs761142483
|
0.00009
|
NM_001148.6(ANK2):c.5313G>A (p.Lys1771=)
|
rs140992864
|
0.00009
|
NM_001148.6(ANK2):c.5784A>C (p.Val1928=)
|
rs757420275
|
0.00009
|
NM_001148.6(ANK2):c.6325G>A (p.Glu2109Lys)
|
rs751026615
|
0.00009
|
NM_001148.6(ANK2):c.6641C>T (p.Pro2214Leu)
|
rs143469039
|
0.00009
|
NM_001148.6(ANK2):c.7168A>C (p.Lys2390Gln)
|
rs151218210
|
0.00009
|
NM_001148.6(ANK2):c.877G>A (p.Asp293Asn)
|
rs752213208
|
0.00009
|
NM_001276345.2(TNNT2):c.208A>G (p.Met70Val)
|
rs141837529
|
0.00009
|
NM_001276345.2(TNNT2):c.295-19C>T
|
rs587780969
|
0.00009
|
NM_001276345.2(TNNT2):c.720-4G>T
|
rs201753429
|
0.00009
|
NM_001276345.2(TNNT2):c.774C>T (p.Phe258=)
|
rs397516481
|
0.00009
|
NM_001276345.2(TNNT2):c.837C>T (p.Asn279=)
|
rs376923877
|
0.00009
|
NM_001276345.2(TNNT2):c.98-186C>T
|
rs576888252
|
0.00009
|
NM_001308093.3(GATA4):c.1100C>T (p.Thr367Met)
|
rs781198110
|
0.00009
|
NM_001308093.3(GATA4):c.1167G>A (p.Ala389=)
|
rs55968178
|
0.00009
|
NM_001308093.3(GATA4):c.867C>T (p.Gly289=)
|
rs781143539
|
0.00009
|
NM_001308093.3(GATA4):c.942G>T (p.Glu314Asp)
|
rs372407808
|
0.00009
|
NM_001386795.1(DTNA):c.371A>G (p.His124Arg)
|
rs150147476
|
0.00009
|
NM_003098.3(SNTA1):c.101G>A (p.Ser34Asn)
|
rs963277918
|
0.00009
|
NM_003098.3(SNTA1):c.1377C>T (p.Asp459=)
|
rs146134721
|
0.00009
|
NM_003098.3(SNTA1):c.36G>C (p.Leu12=)
|
rs949722422
|
0.00009
|
NM_004387.4(NKX2-5):c.*296G>C
|
rs540202205
|
0.00009
|
NM_004387.4(NKX2-5):c.839C>T (p.Pro280Leu)
|
rs761596254
|
0.00009
|
NM_005159.5(ACTC1):c.246C>T (p.Asp82=)
|
rs373261583
|
0.00009
|
NM_005159.5(ACTC1):c.455-7C>T
|
rs768363857
|
0.00009
|
NM_005257.6(GATA6):c.1779C>T (p.Ala593=)
|
rs760578963
|
0.00009
|
NM_005751.5(AKAP9):c.11098-17C>T
|
rs752119071
|
0.00009
|
NM_005751.5(AKAP9):c.11360G>A (p.Arg3787Gln)
|
rs199880764
|
0.00009
|
NM_005751.5(AKAP9):c.11364C>T (p.Val3788=)
|
rs142092767
|
0.00009
|
NM_005751.5(AKAP9):c.1397G>A (p.Arg466Gln)
|
rs200034525
|
0.00009
|
NM_005751.5(AKAP9):c.2239G>A (p.Glu747Lys)
|
rs529180209
|
0.00009
|
NM_005751.5(AKAP9):c.2930A>G (p.Asn977Ser)
|
rs369206894
|
0.00009
|
NM_005751.5(AKAP9):c.4259T>G (p.Phe1420Cys)
|
rs184184931
|
0.00009
|
NM_005751.5(AKAP9):c.6177A>G (p.Glu2059=)
|
rs752723636
|
0.00009
|
NM_005751.5(AKAP9):c.6808G>A (p.Ala2270Thr)
|
rs1042630361
|
0.00009
|
NM_005751.5(AKAP9):c.6896A>G (p.Glu2299Gly)
|
rs147841245
|
0.00009
|
NM_005751.5(AKAP9):c.6905C>T (p.Thr2302Met)
|
rs368444006
|
0.00009
|
NM_005751.5(AKAP9):c.8747C>A (p.Thr2916Lys)
|
rs146648044
|
0.00009
|
NM_005751.5(AKAP9):c.9689A>G (p.Lys3230Arg)
|
rs192845338
|
0.00009
|
NM_006888.6(CALM1):c.402C>T (p.Asp134=)
|
rs193072150
|
0.00009
|
NM_015335.5(MED13L):c.3935-12C>T
|
rs764151600
|
0.00009
|
NM_018055.5(NODAL):c.586C>T (p.Leu196Phe)
|
rs200445211
|
0.00009
|
NM_018055.5(NODAL):c.9C>T (p.Ala3=)
|
rs376002393
|
0.00009
|
NM_021005.4(NR2F2):c.1242A>G (p.Gln414=)
|
rs140022547
|
0.00009
|
NM_022114.4(PRDM16):c.1377G>A (p.Pro459=)
|
rs776479768
|
0.00009
|
NM_022114.4(PRDM16):c.1485G>A (p.Pro495=)
|
rs370666366
|
0.00009
|
NM_022114.4(PRDM16):c.1537G>A (p.Gly513Ser)
|
rs200278862
|
0.00009
|
NM_022114.4(PRDM16):c.1674G>A (p.Leu558=)
|
rs748822939
|
0.00009
|
NM_022114.4(PRDM16):c.1958T>C (p.Leu653Ser)
|
rs371011963
|
0.00009
|
NM_022114.4(PRDM16):c.2503G>A (p.Ala835Thr)
|
rs755872965
|
0.00009
|
NM_022114.4(PRDM16):c.2530C>A (p.Pro844Thr)
|
rs767418172
|
0.00009
|
NM_022114.4(PRDM16):c.2813C>T (p.Thr938Met)
|
rs541102613
|
0.00009
|
NM_022114.4(PRDM16):c.2856G>A (p.Thr952=)
|
rs563342786
|
0.00009
|
NM_022114.4(PRDM16):c.2953G>A (p.Asp985Asn)
|
rs758565663
|
0.00009
|
NM_022114.4(PRDM16):c.3301G>A (p.Val1101Met)
|
rs201654872
|
0.00009
|
NM_022114.4(PRDM16):c.573+9G>A
|
rs376759712
|
0.00009
|
NM_145054.5(CFAP52):c.439G>A (p.Ala147Thr)
|
rs748587285
|
0.00009
|
NM_172201.2(KCNE2):c.346G>A (p.Ala116Thr)
|
rs150790888
|
0.00009
|
NM_172201.2(KCNE2):c.369_370del (p.Ter124IleextTer?)
|
rs45610936
|
0.00009
|
NM_174934.4(SCN4B):c.22G>A (p.Gly8Ser)
|
rs149868494
|
0.00009
|
NM_000218.3(KCNQ1):c.1323C>T (p.Pro441=)
|
rs145452045
|
0.00008
|
NM_000218.3(KCNQ1):c.387-7C>T
|
rs201682200
|
0.00008
|
NM_000218.3(KCNQ1):c.584G>A (p.Arg195Gln)
|
rs138362632
|
0.00008
|
NM_000218.3(KCNQ1):c.804C>T (p.Ile268=)
|
rs373227792
|
0.00008
|
NM_000238.4(KCNH2):c.1341C>T (p.Tyr447=)
|
rs367570298
|
0.00008
|
NM_000238.4(KCNH2):c.1437C>T (p.Asn479=)
|
rs188818227
|
0.00008
|
NM_000238.4(KCNH2):c.2904G>A (p.Pro968=)
|
rs75005975
|
0.00008
|
NM_000238.4(KCNH2):c.889C>T (p.Pro297Ser)
|
rs199472882
|
0.00008
|
NM_000238.4(KCNH2):c.934C>T (p.Arg312Cys)
|
rs199472885
|
0.00008
|
NM_000719.7(CACNA1C):c.5284G>C (p.Gly1762Arg)
|
rs374863121
|
0.00008
|
NM_000719.7(CACNA1C):c.5529T>C (p.His1843=)
|
rs371831239
|
0.00008
|
NM_000890.5(KCNJ5):c.1159G>C (p.Gly387Arg)
|
rs199830292
|
0.00008
|
NM_000890.5(KCNJ5):c.536A>G (p.Asn179Ser)
|
rs147070381
|
0.00008
|
NM_000890.5(KCNJ5):c.738G>A (p.Glu246=)
|
rs372736753
|
0.00008
|
NM_001106.4(ACVR2B):c.410C>T (p.Thr137Met)
|
rs199622012
|
0.00008
|
NM_001136271.3(NKX2-6):c.276G>A (p.Gln92=)
|
rs768775204
|
0.00008
|
NM_001136271.3(NKX2-6):c.341A>G (p.Asn114Ser)
|
rs751485832
|
0.00008
|
NM_001148.6(ANK2):c.10983T>C (p.Ser3661=)
|
rs544195596
|
0.00008
|
NM_001148.6(ANK2):c.2796+18T>C
|
rs201393078
|
0.00008
|
NM_001148.6(ANK2):c.3507T>C (p.Gly1169=)
|
rs200262333
|
0.00008
|
NM_001148.6(ANK2):c.7131C>T (p.Asp2377=)
|
rs553324580
|
0.00008
|
NM_001148.6(ANK2):c.8965G>C (p.Glu2989Gln)
|
rs772344557
|
0.00008
|
NM_001148.6(ANK2):c.9639T>C (p.Pro3213=)
|
rs141830736
|
0.00008
|
NM_001308093.3(GATA4):c.106C>G (p.Pro36Ala)
|
rs1431477414
|
0.00008
|
NM_001308093.3(GATA4):c.623T>C (p.Met208Thr)
|
rs140892695
|
0.00008
|
NM_001386795.1(DTNA):c.1002-2330A>G
|
rs369005625
|
0.00008
|
NM_001386795.1(DTNA):c.1454G>C (p.Ser485Thr)
|
rs190619495
|
0.00008
|
NM_001386795.1(DTNA):c.482T>C (p.Val161Ala)
|
rs199960642
|
0.00008
|
NM_003098.3(SNTA1):c.129C>T (p.Ser43=)
|
rs956270311
|
0.00008
|
NM_003413.4(ZIC3):c.426C>T (p.Gly142=)
|
rs750150672
|
0.00008
|
NM_004387.4(NKX2-5):c.769C>A (p.Pro257Thr)
|
rs387906776
|
0.00008
|
NM_005159.5(ACTC1):c.165C>T (p.Tyr55=)
|
rs149432225
|
0.00008
|
NM_005257.6(GATA6):c.1136-20_1136-16del
|
rs751625594
|
0.00008
|
NM_005257.6(GATA6):c.1620+6T>C
|
rs200795241
|
0.00008
|
NM_005751.5(AKAP9):c.11362G>C (p.Val3788Leu)
|
rs199527737
|
0.00008
|
NM_005751.5(AKAP9):c.11519T>C (p.Ile3840Thr)
|
rs145675748
|
0.00008
|
NM_005751.5(AKAP9):c.3066A>G (p.Gly1022=)
|
rs372748115
|
0.00008
|
NM_005751.5(AKAP9):c.3953-15C>T
|
rs201879671
|
0.00008
|
NM_005751.5(AKAP9):c.4131G>C (p.Glu1377Asp)
|
rs373313419
|
0.00008
|
NM_005751.5(AKAP9):c.4999T>C (p.Ser1667Pro)
|
rs550448097
|
0.00008
|
NM_005751.5(AKAP9):c.5765-20C>G
|
rs368800819
|
0.00008
|
NM_005751.5(AKAP9):c.645A>G (p.Gln215=)
|
rs767167128
|
0.00008
|
NM_005751.5(AKAP9):c.7034_7036del (p.Arg2345_Glu2346delinsLys)
|
rs786205709
|
0.00008
|
NM_005751.5(AKAP9):c.8468A>G (p.Gln2823Arg)
|
rs376528503
|
0.00008
|
NM_005751.5(AKAP9):c.931-10T>G
|
rs757310407
|
0.00008
|
NM_015335.5(MED13L):c.1308C>T (p.Val436=)
|
rs149631695
|
0.00008
|
NM_015335.5(MED13L):c.1564A>G (p.Ser522Gly)
|
rs201414612
|
0.00008
|
NM_015335.5(MED13L):c.5890+11T>G
|
rs138264591
|
0.00008
|
NM_018055.5(NODAL):c.658T>C (p.Trp220Arg)
|
rs776168916
|
0.00008
|
NM_022114.4(PRDM16):c.1614C>A (p.Pro538=)
|
rs375659212
|
0.00008
|
NM_022114.4(PRDM16):c.2033C>G (p.Pro678Arg)
|
rs368139988
|
0.00008
|
NM_022114.4(PRDM16):c.3153C>T (p.Ser1051=)
|
rs752378700
|
0.00008
|
NM_022114.4(PRDM16):c.451C>G (p.Leu151Val)
|
rs371021789
|
0.00008
|
NM_022114.4(PRDM16):c.567T>G (p.Ser189Arg)
|
rs368081666
|
0.00008
|
NM_022114.4(PRDM16):c.706G>A (p.Asp236Asn)
|
rs185041492
|
0.00008
|
NM_033337.3(CAV3):c.444G>A (p.Arg148=)
|
rs376749605
|
0.00008
|
NM_000218.3(KCNQ1):c.1201C>T (p.Arg401Trp)
|
rs766616232
|
0.00007
|
NM_000218.3(KCNQ1):c.136G>A (p.Ala46Thr)
|
rs199473671
|
0.00007
|
NM_000218.3(KCNQ1):c.1733-16G>A
|
rs374351635
|
0.00007
|
NM_000218.3(KCNQ1):c.1831G>A (p.Asp611Asn)
|
rs147445322
|
0.00007
|
NM_000218.3(KCNQ1):c.493G>A (p.Val165Met)
|
rs1085307580
|
0.00007
|
NM_000219.6(KCNE1):c.252C>T (p.Ser84=)
|
rs138884514
|
0.00007
|
NM_000219.6(KCNE1):c.29C>T (p.Thr10Met)
|
rs144917638
|
0.00007
|
NM_000238.4(KCNH2):c.2376C>T (p.Gly792=)
|
rs745993706
|
0.00007
|
NM_000238.4(KCNH2):c.3278C>T (p.Pro1093Leu)
|
rs199473545
|
0.00007
|
NM_000238.4(KCNH2):c.422C>T (p.Pro141Leu)
|
rs199472864
|
0.00007
|
NM_000238.4(KCNH2):c.555G>A (p.Ala185=)
|
rs894519401
|
0.00007
|
NM_000238.4(KCNH2):c.720G>A (p.Pro240=)
|
rs899939755
|
0.00007
|
NM_000719.7(CACNA1C):c.135C>G (p.Thr45=)
|
rs749123185
|
0.00007
|
NM_000719.7(CACNA1C):c.1509-13G>C
|
rs746321738
|
0.00007
|
NM_000719.7(CACNA1C):c.2232A>C (p.Leu744=)
|
rs370145265
|
0.00007
|
NM_000719.7(CACNA1C):c.2530+19A>C
|
rs757560550
|
0.00007
|
NM_000719.7(CACNA1C):c.2566G>A (p.Gly856Ser)
|
rs145549773
|
0.00007
|
NM_000719.7(CACNA1C):c.2854-4G>A
|
rs113929946
|
0.00007
|
NM_000719.7(CACNA1C):c.3200C>T (p.Ala1067Val)
|
rs750998195
|
0.00007
|
NM_000719.7(CACNA1C):c.3210-13C>A
|
rs762235690
|
0.00007
|
NM_000719.7(CACNA1C):c.3933C>T (p.Cys1311=)
|
rs199569953
|
0.00007
|
NM_000719.7(CACNA1C):c.4068C>T (p.Ser1356=)
|
rs765091519
|
0.00007
|
NM_000719.7(CACNA1C):c.5091+3G>A
|
rs372915169
|
0.00007
|
NM_000719.7(CACNA1C):c.5671G>C (p.Ala1891Pro)
|
rs542914369
|
0.00007
|
NM_000719.7(CACNA1C):c.570C>T (p.Tyr190=)
|
rs372770722
|
0.00007
|
NM_000719.7(CACNA1C):c.5729G>A (p.Arg1910Gln)
|
rs190288386
|
0.00007
|
NM_000719.7(CACNA1C):c.6011G>T (p.Gly2004Val)
|
rs374991642
|
0.00007
|
NM_000719.7(CACNA1C):c.6213A>T (p.Ile2071=)
|
rs778147251
|
0.00007
|
NM_000719.7(CACNA1C):c.6388G>A (p.Asp2130Asn)
|
rs199473392
|
0.00007
|
NM_000891.3(KCNJ2):c.1080C>T (p.Asp360=)
|
rs66476803
|
0.00007
|
NM_000891.3(KCNJ2):c.277G>A (p.Val93Ile)
|
rs147750704
|
0.00007
|
NM_000891.3(KCNJ2):c.973C>T (p.Arg325Cys)
|
rs202067116
|
0.00007
|
NM_001136271.3(NKX2-6):c.274C>A (p.Gln92Lys)
|
rs530501230
|
0.00007
|
NM_001148.6(ANK2):c.10322G>A (p.Arg3441Gln)
|
rs772954896
|
0.00007
|
NM_001148.6(ANK2):c.10453G>A (p.Ala3485Thr)
|
rs754354916
|
0.00007
|
NM_001148.6(ANK2):c.11470C>G (p.Pro3824Ala)
|
rs747961230
|
0.00007
|
NM_001148.6(ANK2):c.11523G>A (p.Pro3841=)
|
rs143290935
|
0.00007
|
NM_001148.6(ANK2):c.11683G>A (p.Val3895Met)
|
rs72556370
|
0.00007
|
NM_001148.6(ANK2):c.1422C>T (p.Ala474=)
|
rs151180821
|
0.00007
|
NM_001148.6(ANK2):c.3224+7G>A
|
rs376534098
|
0.00007
|
NM_001148.6(ANK2):c.3931G>A (p.Val1311Ile)
|
rs34065266
|
0.00007
|
NM_001148.6(ANK2):c.4016C>T (p.Pro1339Leu)
|
rs371357815
|
0.00007
|
NM_001148.6(ANK2):c.6505G>A (p.Val2169Ile)
|
rs149292242
|
0.00007
|
NM_001148.6(ANK2):c.7964C>T (p.Ser2655Leu)
|
rs373153154
|
0.00007
|
NM_001148.6(ANK2):c.8166G>A (p.Met2722Ile)
|
rs193922637
|
0.00007
|
NM_001148.6(ANK2):c.8669G>A (p.Cys2890Tyr)
|
rs372710129
|
0.00007
|
NM_001276345.2(TNNT2):c.52+7G>A
|
rs374443596
|
0.00007
|
NM_001276345.2(TNNT2):c.762G>T (p.Glu254Asp)
|
rs45466197
|
0.00007
|
NM_001308093.3(GATA4):c.1030G>A (p.Ala344Thr)
|
rs370588269
|
0.00007
|
NM_001308093.3(GATA4):c.13T>C (p.Leu5=)
|
rs55670878
|
0.00007
|
NM_001308093.3(GATA4):c.678C>T (p.Thr226=)
|
rs759042604
|
0.00007
|
NM_001386795.1(DTNA):c.1479C>T (p.Ile493=)
|
rs145061501
|
0.00007
|
NM_001386795.1(DTNA):c.1939G>T (p.Ala647Ser)
|
rs566869682
|
0.00007
|
NM_001386795.1(DTNA):c.229A>G (p.Asn77Asp)
|
rs147782267
|
0.00007
|
NM_001743.6(CALM2):c.178+12A>G
|
rs376209800
|
0.00007
|
NM_003098.3(SNTA1):c.1442C>T (p.Ser481Leu)
|
rs370531842
|
0.00007
|
NM_003098.3(SNTA1):c.692C>T (p.Pro231Leu)
|
rs559396761
|
0.00007
|
NM_004821.3(HAND1):c.279C>T (p.Gly93=)
|
rs201302137
|
0.00007
|
NM_005159.5(ACTC1):c.465G>A (p.Leu155=)
|
rs397517062
|
0.00007
|
NM_005184.4(CALM3):c.237C>T (p.Asp79=)
|
rs147734536
|
0.00007
|
NM_005257.6(GATA6):c.123C>T (p.Ser41=)
|
rs762641247
|
0.00007
|
NM_005257.6(GATA6):c.151G>A (p.Glu51Lys)
|
rs770662152
|
0.00007
|
NM_005257.6(GATA6):c.16G>A (p.Gly6Ser)
|
rs139750927
|
0.00007
|
NM_005257.6(GATA6):c.372C>T (p.Ala124=)
|
rs532888783
|
0.00007
|
NM_005751.5(AKAP9):c.11235G>C (p.Gly3745=)
|
rs150138799
|
0.00007
|
NM_005751.5(AKAP9):c.11250G>A (p.Thr3750=)
|
rs138566065
|
0.00007
|
NM_005751.5(AKAP9):c.11494C>T (p.Arg3832Cys)
|
rs140053176
|
0.00007
|
NM_005751.5(AKAP9):c.11707G>A (p.Ala3903Thr)
|
rs201298286
|
0.00007
|
NM_005751.5(AKAP9):c.1446A>G (p.Thr482=)
|
rs374138966
|
0.00007
|
NM_005751.5(AKAP9):c.3299A>G (p.Asn1100Ser)
|
rs201184315
|
0.00007
|
NM_005751.5(AKAP9):c.492G>A (p.Leu164=)
|
rs148852801
|
0.00007
|
NM_005751.5(AKAP9):c.5284A>G (p.Lys1762Glu)
|
rs568626378
|
0.00007
|
NM_005751.5(AKAP9):c.7454C>A (p.Ser2485Tyr)
|
rs373613868
|
0.00007
|
NM_005751.5(AKAP9):c.9141G>A (p.Thr3047=)
|
rs375897283
|
0.00007
|
NM_005751.5(AKAP9):c.9181C>T (p.Leu3061=)
|
rs775991910
|
0.00007
|
NM_018055.5(NODAL):c.281G>A (p.Arg94Gln)
|
rs146018217
|
0.00007
|
NM_018055.5(NODAL):c.816C>T (p.Asn272=)
|
rs774058854
|
0.00007
|
NM_021005.4(NR2F2):c.357G>C (p.Arg119=)
|
rs137861279
|
0.00007
|
NM_022114.4(PRDM16):c.115G>A (p.Glu39Lys)
|
rs775285788
|
0.00007
|
NM_022114.4(PRDM16):c.1525G>A (p.Ala509Thr)
|
rs374937969
|
0.00007
|
NM_022114.4(PRDM16):c.1839C>T (p.Thr613=)
|
rs549179676
|
0.00007
|
NM_022114.4(PRDM16):c.1951G>A (p.Gly651Ser)
|
rs770305450
|
0.00007
|
NM_022114.4(PRDM16):c.197C>T (p.Ser66Leu)
|
rs374012976
|
0.00007
|
NM_022114.4(PRDM16):c.2037C>T (p.Asp679=)
|
rs770781991
|
0.00007
|
NM_022114.4(PRDM16):c.2814G>A (p.Thr938=)
|
rs140540302
|
0.00007
|
NM_022114.4(PRDM16):c.3135G>A (p.Thr1045=)
|
rs761078027
|
0.00007
|
NM_022114.4(PRDM16):c.332G>A (p.Gly111Asp)
|
rs755705452
|
0.00007
|
NM_022114.4(PRDM16):c.403G>A (p.Val135Met)
|
rs372159539
|
0.00007
|
NM_022114.4(PRDM16):c.884+9C>A
|
rs372395047
|
0.00007
|
NM_033337.3(CAV3):c.204C>A (p.Ser68=)
|
rs116840775
|
0.00007
|
NM_145020.5(CFAP53):c.1475C>T (p.Ser492Phe)
|
rs371913662
|
0.00007
|
NM_174934.4(SCN4B):c.378G>A (p.Thr126=)
|
rs376627393
|
0.00007
|
NM_000218.3(KCNQ1):c.1129-9C>T
|
rs758945992
|
0.00006
|
NM_000218.3(KCNQ1):c.1514+19G>A
|
rs201932283
|
0.00006
|
NM_000218.3(KCNQ1):c.1514+7G>T
|
rs372593469
|
0.00006
|
NM_000218.3(KCNQ1):c.1596G>A (p.Ala532=)
|
rs558452873
|
0.00006
|
NM_000218.3(KCNQ1):c.1733-3T>C
|
rs372912362
|
0.00006
|
NM_000218.3(KCNQ1):c.1733-7C>G
|
rs367568223
|
0.00006
|
NM_000218.3(KCNQ1):c.1766G>A (p.Gly589Asp)
|
rs120074190
|
0.00006
|
NM_000218.3(KCNQ1):c.1795-20G>A
|
rs547982653
|
0.00006
|
NM_000218.3(KCNQ1):c.1795-4G>A
|
rs769865006
|
0.00006
|
NM_000218.3(KCNQ1):c.1888C>T (p.Pro630Ser)
|
rs199472822
|
0.00006
|
NM_000218.3(KCNQ1):c.1938C>T (p.Gly646=)
|
rs184844767
|
0.00006
|
NM_000218.3(KCNQ1):c.2017G>A (p.Asp673Asn)
|
rs866169644
|
0.00006
|
NM_000218.3(KCNQ1):c.225T>C (p.Val75=)
|
rs367817352
|
0.00006
|
NM_000218.3(KCNQ1):c.351C>T (p.Pro117=)
|
rs764872490
|
0.00006
|
NM_000218.3(KCNQ1):c.683+16A>G
|
rs982822546
|
0.00006
|
NM_000218.3(KCNQ1):c.780+11C>T
|
rs201316912
|
0.00006
|
NM_000218.3(KCNQ1):c.875G>A (p.Gly292Asp)
|
rs199472736
|
0.00006
|
NM_000218.3(KCNQ1):c.900A>C (p.Ala300=)
|
rs727504769
|
0.00006
|
NM_000218.3(KCNQ1):c.922-18C>T
|
rs750681207
|
0.00006
|
NM_000219.6(KCNE1):c.-3del
|
rs397515878
|
0.00006
|
NM_000219.6(KCNE1):c.138C>T (p.Tyr46=)
|
rs758346045
|
0.00006
|
NM_000238.4(KCNH2):c.1053G>C (p.Ser351=)
|
rs766203252
|
0.00006
|
NM_000238.4(KCNH2):c.1655T>C (p.Leu552Ser)
|
rs199472918
|
0.00006
|
NM_000238.4(KCNH2):c.1683G>A (p.Ala561=)
|
rs140366118
|
0.00006
|
NM_000238.4(KCNH2):c.1839G>A (p.Thr613=)
|
rs146309583
|
0.00006
|
NM_000238.4(KCNH2):c.2127C>T (p.Asn709=)
|
rs768572372
|
0.00006
|
NM_000238.4(KCNH2):c.2659C>T (p.Arg887Cys)
|
rs140279503
|
0.00006
|
NM_000238.4(KCNH2):c.2674C>T (p.Arg892Cys)
|
rs201627778
|
0.00006
|
NM_000238.4(KCNH2):c.2780G>T (p.Trp927Leu)
|
rs794728399
|
0.00006
|
NM_000238.4(KCNH2):c.2932G>A (p.Glu978Lys)
|
rs141117135
|
0.00006
|
NM_000238.4(KCNH2):c.3048C>T (p.Pro1016=)
|
rs770968269
|
0.00006
|
NM_000238.4(KCNH2):c.3090G>A (p.Pro1030=)
|
rs778604642
|
0.00006
|
NM_000238.4(KCNH2):c.3108C>T (p.Gly1036=)
|
rs373414022
|
0.00006
|
NM_000238.4(KCNH2):c.3112G>A (p.Val1038Met)
|
rs199473544
|
0.00006
|
NM_000238.4(KCNH2):c.3153-13C>T
|
rs372337645
|
0.00006
|
NM_000238.4(KCNH2):c.3187G>C (p.Val1063Leu)
|
rs139722868
|
0.00006
|
NM_000238.4(KCNH2):c.3216G>A (p.Thr1072=)
|
rs200182770
|
0.00006
|
NM_000238.4(KCNH2):c.342C>T (p.Pro114=)
|
rs532959204
|
0.00006
|
NM_000238.4(KCNH2):c.3465G>A (p.Ser1155=)
|
rs750145862
|
0.00006
|
NM_000238.4(KCNH2):c.440A>G (p.His147Arg)
|
rs768938134
|
0.00006
|
NM_000719.7(CACNA1C):c.1524G>A (p.Arg508=)
|
rs377431864
|
0.00006
|
NM_000719.7(CACNA1C):c.1669+6C>T
|
rs770007601
|
0.00006
|
NM_000719.7(CACNA1C):c.1686C>T (p.Ala562=)
|
rs748256548
|
0.00006
|
NM_000719.7(CACNA1C):c.1896-18C>A
|
rs1056995890
|
0.00006
|
NM_000719.7(CACNA1C):c.2350C>T (p.Pro784Ser)
|
rs749935207
|
0.00006
|
NM_000719.7(CACNA1C):c.2362C>G (p.Gln788Glu)
|
rs751261669
|
0.00006
|
NM_000719.7(CACNA1C):c.2461-3T>C
|
rs918755208
|
0.00006
|
NM_000719.7(CACNA1C):c.2853+14C>T
|
rs374655072
|
0.00006
|
NM_000719.7(CACNA1C):c.3357-16C>A
|
rs201876309
|
0.00006
|
NM_000719.7(CACNA1C):c.3679G>A (p.Val1227Ile)
|
rs373124557
|
0.00006
|
NM_000719.7(CACNA1C):c.371+16C>T
|
rs377534958
|
0.00006
|
NM_000719.7(CACNA1C):c.4140+19C>T
|
rs374647461
|
0.00006
|
NM_000719.7(CACNA1C):c.4500C>A (p.Ile1500=)
|
rs752697651
|
0.00006
|
NM_000719.7(CACNA1C):c.4581A>G (p.Pro1527=)
|
rs367773879
|
0.00006
|
NM_000719.7(CACNA1C):c.5407C>T (p.Arg1803Trp)
|
rs113157354
|
0.00006
|
NM_000719.7(CACNA1C):c.5411T>C (p.Val1804Ala)
|
rs756492434
|
0.00006
|
NM_000719.7(CACNA1C):c.5423C>T (p.Ala1808Val)
|
rs745997744
|
0.00006
|
NM_000719.7(CACNA1C):c.5510A>G (p.Tyr1837Cys)
|
rs952990263
|
0.00006
|
NM_000719.7(CACNA1C):c.5785-5C>T
|
rs750451768
|
0.00006
|
NM_000719.7(CACNA1C):c.6117+12G>A
|
rs768628781
|
0.00006
|
NM_000719.7(CACNA1C):c.6339C>T (p.Asp2113=)
|
rs374843203
|
0.00006
|
NM_000719.7(CACNA1C):c.6342G>A (p.Ala2114=)
|
rs368073321
|
0.00006
|
NM_000719.7(CACNA1C):c.859T>C (p.Leu287=)
|
rs570043167
|
0.00006
|
NM_000719.7(CACNA1C):c.898A>G (p.Asn300Asp)
|
rs200289321
|
0.00006
|
NM_000719.7(CACNA1C):c.959C>T (p.Thr320Met)
|
rs377737331
|
0.00006
|
NM_000890.5(KCNJ5):c.53C>T (p.Thr18Ile)
|
rs375669366
|
0.00006
|
NM_000891.3(KCNJ2):c.366T>C (p.Cys122=)
|
rs748924113
|
0.00006
|
NM_000891.3(KCNJ2):c.51C>T (p.Asp17=)
|
rs141965142
|
0.00006
|
NM_001148.6(ANK2):c.10016C>T (p.Ala3339Val)
|
rs150437645
|
0.00006
|
NM_001148.6(ANK2):c.10017G>A (p.Ala3339=)
|
rs774143296
|
0.00006
|
NM_001148.6(ANK2):c.10948G>C (p.Glu3650Gln)
|
rs746987182
|
0.00006
|
NM_001148.6(ANK2):c.11040G>A (p.Ser3680=)
|
rs72544142
|
0.00006
|
NM_001148.6(ANK2):c.11133C>T (p.Ile3711=)
|
rs142441044
|
0.00006
|
NM_001148.6(ANK2):c.11354A>G (p.Gln3785Arg)
|
rs150808807
|
0.00006
|
NM_001148.6(ANK2):c.1135C>T (p.Arg379Cys)
|
rs143043717
|
0.00006
|
NM_001148.6(ANK2):c.11525G>A (p.Arg3842Gln)
|
rs770954138
|
0.00006
|
NM_001148.6(ANK2):c.11628A>G (p.Glu3876=)
|
rs376376716
|
0.00006
|
NM_001148.6(ANK2):c.11813A>G (p.Lys3938Arg)
|
rs568549084
|
0.00006
|
NM_001148.6(ANK2):c.1287+10T>C
|
rs751370687
|
0.00006
|
NM_001148.6(ANK2):c.1288-4G>A
|
rs780788513
|
0.00006
|
NM_001148.6(ANK2):c.1397C>T (p.Thr466Met)
|
rs786205722
|
0.00006
|
NM_001148.6(ANK2):c.1575G>A (p.Ala525=)
|
rs565952102
|
0.00006
|
NM_001148.6(ANK2):c.1869T>C (p.His623=)
|
rs761925962
|
0.00006
|
NM_001148.6(ANK2):c.1881+12A>C
|
rs763612449
|
0.00006
|
NM_001148.6(ANK2):c.2679A>G (p.Gly893=)
|
rs766183219
|
0.00006
|
NM_001148.6(ANK2):c.2900+15A>C
|
rs369903397
|
0.00006
|
NM_001148.6(ANK2):c.3224+6A>G
|
rs751666292
|
0.00006
|
NM_001148.6(ANK2):c.3400C>T (p.Leu1134=)
|
rs188812120
|
0.00006
|
NM_001148.6(ANK2):c.3807C>A (p.Thr1269=)
|
rs759239926
|
0.00006
|
NM_001148.6(ANK2):c.4982A>G (p.Lys1661Arg)
|
rs761759361
|
0.00006
|
NM_001148.6(ANK2):c.5570T>A (p.Val1857Glu)
|
rs141212932
|
0.00006
|
NM_001148.6(ANK2):c.597C>T (p.Ala199=)
|
rs749414257
|
0.00006
|
NM_001148.6(ANK2):c.6033T>C (p.Phe2011=)
|
rs547380782
|
0.00006
|
NM_001148.6(ANK2):c.6102G>T (p.Gly2034=)
|
rs757998275
|
0.00006
|
NM_001148.6(ANK2):c.6143A>G (p.Gln2048Arg)
|
rs201628725
|
0.00006
|
NM_001148.6(ANK2):c.7412G>A (p.Ser2471Asn)
|
rs375139170
|
0.00006
|
NM_001148.6(ANK2):c.744G>A (p.Val248=)
|
rs201208094
|
0.00006
|
NM_001148.6(ANK2):c.7863T>C (p.Ser2621=)
|
rs377056824
|
0.00006
|
NM_001148.6(ANK2):c.7932G>A (p.Glu2644=)
|
rs201645638
|
0.00006
|
NM_001148.6(ANK2):c.8124A>G (p.Val2708=)
|
rs776586126
|
0.00006
|
NM_001148.6(ANK2):c.8176A>G (p.Thr2726Ala)
|
rs781344591
|
0.00006
|
NM_001148.6(ANK2):c.8324A>G (p.His2775Arg)
|
rs534934297
|
0.00006
|
NM_001148.6(ANK2):c.8484T>C (p.Asp2828=)
|
rs371140760
|
0.00006
|
NM_001148.6(ANK2):c.85-5C>T
|
rs372560419
|
0.00006
|
NM_001148.6(ANK2):c.9381A>G (p.Glu3127=)
|
rs544513087
|
0.00006
|
NM_001148.6(ANK2):c.9916G>A (p.Val3306Ile)
|
rs200922244
|
0.00006
|
NM_001276345.2(TNNT2):c.114G>A (p.Ala38=)
|
rs200283086
|
0.00006
|
NM_001276345.2(TNNT2):c.295-14C>T
|
rs747477576
|
0.00006
|
NM_001276345.2(TNNT2):c.430C>A (p.Arg144=)
|
rs45525839
|
0.00006
|
NM_001276345.2(TNNT2):c.489+18C>T
|
rs377743847
|
0.00006
|
NM_001276345.2(TNNT2):c.601-8C>T
|
rs397516475
|
0.00006
|
NM_001308093.3(GATA4):c.127C>A (p.Arg43=)
|
rs387906770
|
0.00006
|
NM_001308093.3(GATA4):c.1329G>A (p.Ala443=)
|
rs745735974
|
0.00006
|
NM_001308093.3(GATA4):c.330C>T (p.Phe110=)
|
rs779273192
|
0.00006
|
NM_001308093.3(GATA4):c.609C>T (p.Pro203=)
|
rs1210009123
|
0.00006
|
NM_001308093.3(GATA4):c.611A>G (p.Asn204Ser)
|
rs562967066
|
0.00006
|
NM_001386795.1(DTNA):c.1183C>T (p.Pro395Ser)
|
rs768198248
|
0.00006
|
NM_001386795.1(DTNA):c.1219G>T (p.Ala407Ser)
|
rs760958673
|
0.00006
|
NM_001386795.1(DTNA):c.1532+16C>T
|
rs562514105
|
0.00006
|
NM_001386795.1(DTNA):c.1592C>T (p.Thr531Met)
|
rs199828427
|
0.00006
|
NM_001386795.1(DTNA):c.1593G>A (p.Thr531=)
|
rs748063105
|
0.00006
|
NM_001386795.1(DTNA):c.1915A>G (p.Asn639Asp)
|
rs779045040
|
0.00006
|
NM_001386795.1(DTNA):c.239G>A (p.Arg80His)
|
rs774912781
|
0.00006
|
NM_001386795.1(DTNA):c.423A>G (p.Gly141=)
|
rs376651004
|
0.00006
|
NM_001386795.1(DTNA):c.448+10T>G
|
rs757645396
|
0.00006
|
NM_001386795.1(DTNA):c.603+15T>C
|
rs367772080
|
0.00006
|
NM_003098.3(SNTA1):c.1147G>A (p.Val383Met)
|
rs767361112
|
0.00006
|
NM_003098.3(SNTA1):c.1238-14T>C
|
rs369876616
|
0.00006
|
NM_003098.3(SNTA1):c.1281C>T (p.Ile427=)
|
rs761116006
|
0.00006
|
NM_003098.3(SNTA1):c.589C>T (p.Arg197Trp)
|
rs530603992
|
0.00006
|
NM_004387.4(NKX2-5):c.492G>C (p.Ser164=)
|
rs754229011
|
0.00006
|
NM_004387.4(NKX2-5):c.609G>A (p.Glu203=)
|
rs376792087
|
0.00006
|
NM_004387.4(NKX2-5):c.65A>G (p.Gln22Arg)
|
rs201442000
|
0.00006
|
NM_004821.3(HAND1):c.339A>G (p.Ala113=)
|
rs150104384
|
0.00006
|
NM_005159.5(ACTC1):c.129+18C>A
|
rs368977747
|
0.00006
|
NM_005159.5(ACTC1):c.717G>A (p.Glu239=)
|
rs369019849
|
0.00006
|
NM_005184.4(CALM3):c.444A>T (p.Ala148=)
|
rs779594484
|
0.00006
|
NM_005257.6(GATA6):c.1672A>G (p.Ser558Gly)
|
rs138641332
|
0.00006
|
NM_005257.6(GATA6):c.370G>A (p.Ala124Thr)
|
rs372228686
|
0.00006
|
NM_005257.6(GATA6):c.408G>T (p.Leu136=)
|
rs546073071
|
0.00006
|
NM_005257.6(GATA6):c.660C>T (p.Gly220=)
|
rs1385756157
|
0.00006
|
NM_005257.6(GATA6):c.768G>A (p.Ala256=)
|
rs919012580
|
0.00006
|
NM_005751.5(AKAP9):c.109A>G (p.Lys37Glu)
|
rs752156538
|
0.00006
|
NM_005751.5(AKAP9):c.11234G>A (p.Gly3745Glu)
|
rs140853603
|
0.00006
|
NM_005751.5(AKAP9):c.11351G>A (p.Arg3784Gln)
|
rs148635511
|
0.00006
|
NM_005751.5(AKAP9):c.11426A>G (p.Lys3809Arg)
|
rs773726579
|
0.00006
|
NM_005751.5(AKAP9):c.1396C>T (p.Arg466Trp)
|
rs373876340
|
0.00006
|
NM_005751.5(AKAP9):c.1398G>A (p.Arg466=)
|
rs371085808
|
0.00006
|
NM_005751.5(AKAP9):c.1575T>C (p.Ala525=)
|
rs374455304
|
0.00006
|
NM_005751.5(AKAP9):c.2477T>C (p.Ile826Thr)
|
rs534185372
|
0.00006
|
NM_005751.5(AKAP9):c.261A>G (p.Leu87=)
|
rs150736347
|
0.00006
|
NM_005751.5(AKAP9):c.3350G>A (p.Arg1117His)
|
rs546600149
|
0.00006
|
NM_005751.5(AKAP9):c.3563T>C (p.Ile1188Thr)
|
rs147986403
|
0.00006
|
NM_005751.5(AKAP9):c.3752-10T>C
|
rs372028453
|
0.00006
|
NM_005751.5(AKAP9):c.3793G>A (p.Glu1265Lys)
|
rs1424485718
|
0.00006
|
NM_005751.5(AKAP9):c.4189C>G (p.Gln1397Glu)
|
rs749340561
|
0.00006
|
NM_005751.5(AKAP9):c.4293G>A (p.Leu1431=)
|
rs151197146
|
0.00006
|
NM_005751.5(AKAP9):c.4917+14del
|
rs765796287
|
0.00006
|
NM_005751.5(AKAP9):c.5036G>A (p.Arg1679His)
|
rs759646439
|
0.00006
|
NM_005751.5(AKAP9):c.5117A>G (p.Asp1706Gly)
|
rs139468199
|
0.00006
|
NM_005751.5(AKAP9):c.5468A>T (p.Gln1823Leu)
|
rs147772200
|
0.00006
|
NM_005751.5(AKAP9):c.5680A>G (p.Lys1894Glu)
|
rs137971303
|
0.00006
|
NM_005751.5(AKAP9):c.5705G>A (p.Arg1902His)
|
rs369082700
|
0.00006
|
NM_005751.5(AKAP9):c.6518G>A (p.Arg2173Gln)
|
rs749345540
|
0.00006
|
NM_005751.5(AKAP9):c.6681A>G (p.Gln2227=)
|
rs745898364
|
0.00006
|
NM_005751.5(AKAP9):c.7221A>G (p.Glu2407=)
|
rs779280501
|
0.00006
|
NM_005751.5(AKAP9):c.7314A>T (p.Glu2438Asp)
|
rs138468216
|
0.00006
|
NM_005751.5(AKAP9):c.7565T>G (p.Ile2522Arg)
|
rs537613965
|
0.00006
|
NM_005751.5(AKAP9):c.8654C>T (p.Ser2885Leu)
|
rs759179468
|
0.00006
|
NM_005751.5(AKAP9):c.9244C>T (p.Leu3082Phe)
|
rs377611430
|
0.00006
|
NM_005751.5(AKAP9):c.9730-7G>A
|
rs377255415
|
0.00006
|
NM_005751.5(AKAP9):c.9867A>G (p.Ser3289=)
|
rs61757675
|
0.00006
|
NM_005751.5(AKAP9):c.9943A>G (p.Thr3315Ala)
|
rs747162821
|
0.00006
|
NM_006888.6(CALM1):c.72C>T (p.Gly24=)
|
rs267607278
|
0.00006
|
NM_015335.5(MED13L):c.2035C>T (p.Arg679Trp)
|
rs368437832
|
0.00006
|
NM_015335.5(MED13L):c.3068C>T (p.Thr1023Met)
|
rs747244814
|
0.00006
|
NM_015335.5(MED13L):c.3354C>T (p.Ser1118=)
|
rs368878357
|
0.00006
|
NM_015335.5(MED13L):c.3429G>A (p.Ala1143=)
|
rs753776073
|
0.00006
|
NM_015335.5(MED13L):c.3788G>A (p.Arg1263Gln)
|
rs374506267
|
0.00006
|
NM_015335.5(MED13L):c.5115C>T (p.Arg1705=)
|
rs370324246
|
0.00006
|
NM_015335.5(MED13L):c.6348G>A (p.Ser2116=)
|
rs769874135
|
0.00006
|
NM_015335.5(MED13L):c.6545A>G (p.Asn2182Ser)
|
rs762926166
|
0.00006
|
NM_018055.5(NODAL):c.672G>A (p.Glu224=)
|
rs745724942
|
0.00006
|
NM_018055.5(NODAL):c.924C>T (p.Val308=)
|
rs188029435
|
0.00006
|
NM_022114.4(PRDM16):c.1047C>T (p.Pro349=)
|
rs182903782
|
0.00006
|
NM_022114.4(PRDM16):c.141C>T (p.Pro47=)
|
rs746262080
|
0.00006
|
NM_022114.4(PRDM16):c.1832C>T (p.Thr611Met)
|
rs200936355
|
0.00006
|
NM_022114.4(PRDM16):c.1947T>C (p.Phe649=)
|
rs1369460161
|
0.00006
|
NM_022114.4(PRDM16):c.2062G>A (p.Ala688Thr)
|
rs367580261
|
0.00006
|
NM_022114.4(PRDM16):c.2118C>T (p.Pro706=)
|
rs543211916
|
0.00006
|
NM_022114.4(PRDM16):c.2295C>T (p.Gly765=)
|
rs376224745
|
0.00006
|
NM_022114.4(PRDM16):c.2604-13T>C
|
rs750825082
|
0.00006
|
NM_022114.4(PRDM16):c.2691+4C>T
|
rs374015321
|
0.00006
|
NM_022114.4(PRDM16):c.2747C>T (p.Ala916Val)
|
rs756209340
|
0.00006
|
NM_022114.4(PRDM16):c.3199G>A (p.Glu1067Lys)
|
rs200946004
|
0.00006
|
NM_022114.4(PRDM16):c.3269C>T (p.Thr1090Met)
|
rs760088040
|
0.00006
|
NM_022114.4(PRDM16):c.3284+17G>A
|
rs376268478
|
0.00006
|
NM_022114.4(PRDM16):c.3352G>A (p.Val1118Met)
|
rs542279737
|
0.00006
|
NM_022114.4(PRDM16):c.3366C>T (p.Asp1122=)
|
rs370195954
|
0.00006
|
NM_022114.4(PRDM16):c.3696+10C>T
|
rs369030039
|
0.00006
|
NM_022114.4(PRDM16):c.387+12C>T
|
rs371946677
|
0.00006
|
NM_022114.4(PRDM16):c.398C>T (p.Thr133Met)
|
rs530119550
|
0.00006
|
NM_022114.4(PRDM16):c.399G>A (p.Thr133=)
|
rs368785625
|
0.00006
|
NM_022114.4(PRDM16):c.700G>A (p.Glu234Lys)
|
rs367748143
|
0.00006
|
NM_022114.4(PRDM16):c.75C>T (p.Asn25=)
|
rs759261262
|
0.00006
|
NM_022114.4(PRDM16):c.76C>T (p.Arg26Trp)
|
rs769704263
|
0.00006
|
NM_022114.4(PRDM16):c.778C>G (p.Leu260Val)
|
rs762328436
|
0.00006
|
NM_022114.4(PRDM16):c.822C>T (p.Gly274=)
|
rs372730781
|
0.00006
|
NM_022114.4(PRDM16):c.863G>A (p.Arg288Gln)
|
rs141374404
|
0.00006
|
NM_022114.4(PRDM16):c.969C>T (p.Asn323=)
|
rs371151181
|
0.00006
|
NM_033337.3(CAV3):c.129C>T (p.Asp43=)
|
rs374584030
|
0.00006
|
NM_033337.3(CAV3):c.39C>T (p.Ile13=)
|
rs200562715
|
0.00006
|
NM_145054.5(CFAP52):c.1601G>C (p.Gly534Ala)
|
rs182215122
|
0.00006
|
NM_145054.5(CFAP52):c.199G>A (p.Val67Ile)
|
rs201479202
|
0.00006
|
NM_172201.2(KCNE2):c.39C>T (p.Asp13=)
|
rs556106127
|
0.00006
|
NM_172201.2(KCNE2):c.79C>T (p.Arg27Cys)
|
rs74315449
|
0.00006
|
NM_174934.4(SCN4B):c.432C>T (p.His144=)
|
rs373045667
|
0.00006
|
NM_174934.4(SCN4B):c.469G>C (p.Glu157Gln)
|
rs746647997
|
0.00006
|
NM_174934.4(SCN4B):c.640G>A (p.Gly214Ser)
|
rs367988277
|
0.00006
|
NM_000218.3(KCNQ1):c.1128+4C>T
|
rs201590918
|
0.00005
|
NM_000218.3(KCNQ1):c.1553G>A (p.Arg518Gln)
|
rs145974930
|
0.00005
|
NM_000218.3(KCNQ1):c.1686-4C>T
|
rs548313980
|
0.00005
|
NM_000218.3(KCNQ1):c.1749C>T (p.Arg583=)
|
rs200670744
|
0.00005
|
NM_000218.3(KCNQ1):c.1761G>A (p.Thr587=)
|
rs148794853
|
0.00005
|
NM_000218.3(KCNQ1):c.1885G>A (p.Gly629Ser)
|
rs775608046
|
0.00005
|
NM_000218.3(KCNQ1):c.1902C>T (p.Gly634=)
|
rs774046442
|
0.00005
|
NM_000218.3(KCNQ1):c.1903G>A (p.Gly635Arg)
|
rs199473484
|
0.00005
|
NM_000218.3(KCNQ1):c.197C>A (p.Ser66Tyr)
|
rs199473446
|
0.00005
|
NM_000218.3(KCNQ1):c.683+19C>T
|
rs372777085
|
0.00005
|
NM_000218.3(KCNQ1):c.780+12G>A
|
rs200796314
|
0.00005
|
NM_000218.3(KCNQ1):c.860C>A (p.Ala287Glu)
|
rs199472735
|
0.00005
|
NM_000218.3(KCNQ1):c.868G>A (p.Glu290Lys)
|
rs199473464
|
0.00005
|
NM_000218.3(KCNQ1):c.921+7C>T
|
rs370506451
|
0.00005
|
NM_000219.6(KCNE1):c.139G>A (p.Val47Ile)
|
rs199473353
|
0.00005
|
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn)
|
rs74315445
|
0.00005
|
NM_000219.6(KCNE1):c.24G>A (p.Ala8=)
|
rs144094344
|
0.00005
|
NM_000219.6(KCNE1):c.30G>A (p.Thr10=)
|
rs187686559
|
0.00005
|
NM_000219.6(KCNE1):c.315G>A (p.Ser105=)
|
rs563859144
|
0.00005
|
NM_000219.6(KCNE1):c.95G>A (p.Arg32His)
|
rs17857111
|
0.00005
|
NM_000238.4(KCNH2):c.1129-9C>T
|
rs372184728
|
0.00005
|
NM_000238.4(KCNH2):c.1512C>T (p.Ala504=)
|
rs41311003
|
0.00005
|
NM_000238.4(KCNH2):c.2055C>T (p.Arg685=)
|
rs753149816
|
0.00005
|
NM_000238.4(KCNH2):c.2684C>T (p.Thr895Met)
|
rs199473434
|
0.00005
|
NM_000238.4(KCNH2):c.2689_2690insCGGAC (p.Lys897fs)
|
rs767910122
|
0.00005
|
NM_000238.4(KCNH2):c.2696C>T (p.Thr899Met)
|
rs1480554629
|
0.00005
|
NM_000238.4(KCNH2):c.274C>T (p.Arg92Cys)
|
rs563611707
|
0.00005
|
NM_000238.4(KCNH2):c.2750C>T (p.Pro917Leu)
|
rs76420733
|
0.00005
|
NM_000238.4(KCNH2):c.2931C>T (p.Cys977=)
|
rs761585108
|
0.00005
|
NM_000238.4(KCNH2):c.3147C>T (p.Leu1049=)
|
rs999440318
|
0.00005
|
NM_000238.4(KCNH2):c.3436A>T (p.Thr1146Ser)
|
rs778879572
|
0.00005
|
NM_000238.4(KCNH2):c.443G>A (p.Arg148Gln)
|
rs374912424
|
0.00005
|
NM_000238.4(KCNH2):c.491G>A (p.Arg164His)
|
rs199472866
|
0.00005
|
NM_000238.4(KCNH2):c.702G>C (p.Leu234=)
|
rs954537017
|
0.00005
|
NM_000238.4(KCNH2):c.864C>T (p.Ile288=)
|
rs915031143
|
0.00005
|
NM_000719.7(CACNA1C):c.101C>T (p.Ala34Val)
|
rs551396698
|
0.00005
|
NM_000719.7(CACNA1C):c.107C>T (p.Ala36Val)
|
rs755028000
|
0.00005
|
NM_000719.7(CACNA1C):c.1673C>T (p.Thr558Met)
|
rs572234918
|
0.00005
|
NM_000719.7(CACNA1C):c.2022A>G (p.Gly674=)
|
rs765301620
|
0.00005
|
NM_000719.7(CACNA1C):c.2339+18C>T
|
rs778390407
|
0.00005
|
NM_000719.7(CACNA1C):c.3492C>T (p.Phe1164=)
|
rs757106180
|
0.00005
|
NM_000719.7(CACNA1C):c.3946-10C>T
|
rs370630496
|
0.00005
|
NM_000719.7(CACNA1C):c.4074+9C>G
|
rs368648708
|
0.00005
|
NM_000719.7(CACNA1C):c.4920G>A (p.Val1640=)
|
rs773063881
|
0.00005
|
NM_000719.7(CACNA1C):c.4941C>T (p.Asn1647=)
|
rs773832706
|
0.00005
|
NM_000719.7(CACNA1C):c.5144G>A (p.Arg1715Gln)
|
rs376706496
|
0.00005
|
NM_000719.7(CACNA1C):c.5293G>A (p.Ala1765Thr)
|
rs200937586
|
0.00005
|
NM_000719.7(CACNA1C):c.5477C>T (p.Ala1826Val)
|
rs750289082
|
0.00005
|
NM_000719.7(CACNA1C):c.5648C>T (p.Pro1883Leu)
|
rs578233776
|
0.00005
|
NM_000719.7(CACNA1C):c.5747A>G (p.Gln1916Arg)
|
rs186867242
|
0.00005
|
NM_000719.7(CACNA1C):c.5931C>T (p.Val1977=)
|
rs757236915
|
0.00005
|
NM_000719.7(CACNA1C):c.76G>A (p.Ala26Thr)
|
rs369483452
|
0.00005
|
NM_000719.7(CACNA1C):c.990G>A (p.Thr330=)
|
rs371837699
|
0.00005
|
NM_000890.5(KCNJ5):c.1124G>A (p.Arg375Gln)
|
rs530587789
|
0.00005
|
NM_000890.5(KCNJ5):c.1254G>A (p.Ser418=)
|
rs528463709
|
0.00005
|
NM_000890.5(KCNJ5):c.739G>A (p.Gly247Arg)
|
rs200170681
|
0.00005
|
NM_000890.5(KCNJ5):c.843C>T (p.Asn281=)
|
rs370673577
|
0.00005
|
NM_000890.5(KCNJ5):c.994C>T (p.Arg332Ter)
|
rs746985291
|
0.00005
|
NM_000891.3(KCNJ2):c.1222C>G (p.Leu408Val)
|
rs753757610
|
0.00005
|
NM_000891.3(KCNJ2):c.208G>T (p.Ala70Ser)
|
rs375605948
|
0.00005
|
NM_000891.3(KCNJ2):c.96C>T (p.Asn32=)
|
rs67120636
|
0.00005
|
NM_001148.6(ANK2):c.10032A>G (p.Pro3344=)
|
rs775667097
|
0.00005
|
NM_001148.6(ANK2):c.10708G>A (p.Glu3570Lys)
|
rs180843436
|
0.00005
|
NM_001148.6(ANK2):c.10992T>C (p.Tyr3664=)
|
rs749476928
|
0.00005
|
NM_001148.6(ANK2):c.11557G>A (p.Asp3853Asn)
|
rs754642933
|
0.00005
|
NM_001148.6(ANK2):c.11658A>G (p.Glu3886=)
|
rs771750785
|
0.00005
|
NM_001148.6(ANK2):c.1177G>A (p.Ala393Thr)
|
rs147458476
|
0.00005
|
NM_001148.6(ANK2):c.229G>A (p.Val77Met)
|
rs776254819
|
0.00005
|
NM_001148.6(ANK2):c.285+19G>A
|
rs111878655
|
0.00005
|
NM_001148.6(ANK2):c.3136C>T (p.Leu1046=)
|
rs149840991
|
0.00005
|
NM_001148.6(ANK2):c.4254C>T (p.Arg1418=)
|
rs778974823
|
0.00005
|
NM_001148.6(ANK2):c.4259C>T (p.Thr1420Met)
|
rs779367457
|
0.00005
|
NM_001148.6(ANK2):c.5063A>G (p.Gln1688Arg)
|
rs369680021
|
0.00005
|
NM_001148.6(ANK2):c.6170C>T (p.Pro2057Leu)
|
rs146531225
|
0.00005
|
NM_001148.6(ANK2):c.6843G>A (p.Thr2281=)
|
rs548896674
|
0.00005
|
NM_001148.6(ANK2):c.7153C>T (p.Pro2385Ser)
|
rs372362152
|
0.00005
|
NM_001148.6(ANK2):c.7320C>T (p.Ser2440=)
|
rs190590036
|
0.00005
|
NM_001148.6(ANK2):c.7877C>T (p.Pro2626Leu)
|
rs754511955
|
0.00005
|
NM_001148.6(ANK2):c.813T>C (p.His271=)
|
rs774848857
|
0.00005
|
NM_001148.6(ANK2):c.8387C>T (p.Pro2796Leu)
|
rs182956726
|
0.00005
|
NM_001148.6(ANK2):c.8659C>T (p.Pro2887Ser)
|
rs1050108506
|
0.00005
|
NM_001148.6(ANK2):c.8918T>G (p.Val2973Gly)
|
rs142302291
|
0.00005
|
NM_001148.6(ANK2):c.9055A>G (p.Met3019Val)
|
rs370499072
|
0.00005
|
NM_001148.6(ANK2):c.9137G>A (p.Ser3046Asn)
|
rs748521267
|
0.00005
|
NM_001148.6(ANK2):c.9172C>T (p.Arg3058Cys)
|
rs188282049
|
0.00005
|
NM_001148.6(ANK2):c.9180A>G (p.Lys3060=)
|
rs753698480
|
0.00005
|
NM_001148.6(ANK2):c.9242A>T (p.Asp3081Val)
|
rs962522673
|
0.00005
|
NM_001148.6(ANK2):c.9556G>A (p.Val3186Met)
|
rs759441164
|
0.00005
|
NM_001148.6(ANK2):c.9736G>A (p.Asp3246Asn)
|
rs371808294
|
0.00005
|
NM_001148.6(ANK2):c.9936C>T (p.Ser3312=)
|
rs758162927
|
0.00005
|
NM_001276345.2(TNNT2):c.567C>T (p.Ser189=)
|
rs397516474
|
0.00005
|
NM_001276345.2(TNNT2):c.863G>A (p.Arg288His)
|
rs397516484
|
0.00005
|
NM_001276345.2(TNNT2):c.864C>T (p.Arg288=)
|
rs45503195
|
0.00005
|
NM_001276345.2(TNNT2):c.887G>A (p.Arg296His)
|
rs141121678
|
0.00005
|
NM_001308093.3(GATA4):c.786+16G>A
|
rs200555437
|
0.00005
|
NM_001386795.1(DTNA):c.1002-6T>C
|
rs200208281
|
0.00005
|
NM_001386795.1(DTNA):c.1813C>T (p.Arg605Trp)
|
rs749405895
|
0.00005
|
NM_001386795.1(DTNA):c.1848G>A (p.Thr616=)
|
rs373742103
|
0.00005
|
NM_001386795.1(DTNA):c.675G>A (p.Leu225=)
|
rs376519672
|
0.00005
|
NM_001743.6(CALM2):c.421+3A>G
|
rs372947059
|
0.00005
|
NM_003098.3(SNTA1):c.1015C>T (p.Arg339Cys)
|
rs138164106
|
0.00005
|
NM_003098.3(SNTA1):c.13A>C (p.Arg5=)
|
rs980437334
|
0.00005
|
NM_003098.3(SNTA1):c.162C>T (p.Gly54=)
|
rs544127915
|
0.00005
|
NM_003098.3(SNTA1):c.782C>T (p.Ala261Val)
|
rs139467962
|
0.00005
|
NM_003098.3(SNTA1):c.821G>A (p.Arg274Gln)
|
rs137986136
|
0.00005
|
NM_003098.3(SNTA1):c.926C>T (p.Thr309Ile)
|
rs200709948
|
0.00005
|
NM_004387.4(NKX2-5):c.890_891dup (p.Gly298fs)
|
rs778545351
|
0.00005
|
NM_005257.6(GATA6):c.543G>C (p.Ala181=)
|
rs1462466315
|
0.00005
|
NM_005257.6(GATA6):c.775G>A (p.Val259Ile)
|
rs911752926
|
0.00005
|
NM_005751.5(AKAP9):c.10061A>G (p.Glu3354Gly)
|
rs200596189
|
0.00005
|
NM_005751.5(AKAP9):c.10361G>A (p.Arg3454Gln)
|
rs377026066
|
0.00005
|
NM_005751.5(AKAP9):c.1067A>T (p.Asp356Val)
|
rs533277424
|
0.00005
|
NM_005751.5(AKAP9):c.10713+4A>G
|
rs539934550
|
0.00005
|
NM_005751.5(AKAP9):c.11291G>A (p.Arg3764Lys)
|
rs146264747
|
0.00005
|
NM_005751.5(AKAP9):c.11376T>G (p.Val3792=)
|
rs200050078
|
0.00005
|
NM_005751.5(AKAP9):c.11687-16T>C
|
rs549524911
|
0.00005
|
NM_005751.5(AKAP9):c.2609G>A (p.Cys870Tyr)
|
rs187255726
|
0.00005
|
NM_005751.5(AKAP9):c.289C>G (p.Gln97Glu)
|
rs786205712
|
0.00005
|
NM_005751.5(AKAP9):c.3172A>G (p.Asn1058Asp)
|
rs1029311669
|
0.00005
|
NM_005751.5(AKAP9):c.3994G>C (p.Glu1332Gln)
|
rs774110970
|
0.00005
|
NM_005751.5(AKAP9):c.4594A>G (p.Asn1532Asp)
|
rs368059326
|
0.00005
|
NM_005751.5(AKAP9):c.5471G>A (p.Arg1824Gln)
|
rs970122684
|
0.00005
|
NM_005751.5(AKAP9):c.5610T>C (p.His1870=)
|
rs150332727
|
0.00005
|
NM_005751.5(AKAP9):c.5978-13T>C
|
rs370504212
|
0.00005
|
NM_005751.5(AKAP9):c.6035C>G (p.Ala2012Gly)
|
rs777752444
|
0.00005
|
NM_005751.5(AKAP9):c.6141A>G (p.Glu2047=)
|
rs141830654
|
0.00005
|
NM_005751.5(AKAP9):c.6195G>A (p.Met2065Ile)
|
rs369212896
|
0.00005
|
NM_005751.5(AKAP9):c.6330+3A>G
|
rs771419309
|
0.00005
|
NM_005751.5(AKAP9):c.8283C>T (p.Ser2761=)
|
rs1318456659
|
0.00005
|
NM_005751.5(AKAP9):c.970A>G (p.Ile324Val)
|
rs906395966
|
0.00005
|
NM_015335.5(MED13L):c.1185A>C (p.Gln395His)
|
rs374884525
|
0.00005
|
NM_015335.5(MED13L):c.2570-7T>C
|
rs768826816
|
0.00005
|
NM_015335.5(MED13L):c.3934+3A>G
|
rs747852225
|
0.00005
|
NM_015335.5(MED13L):c.573G>C (p.Leu191Phe)
|
rs201690921
|
0.00005
|
NM_022114.4(PRDM16):c.1358C>T (p.Pro453Leu)
|
rs1202650948
|
0.00005
|
NM_022114.4(PRDM16):c.1517C>T (p.Thr506Met)
|
rs368543415
|
0.00005
|
NM_022114.4(PRDM16):c.1555C>T (p.Pro519Ser)
|
rs758737732
|
0.00005
|
NM_022114.4(PRDM16):c.1796C>T (p.Ser599Leu)
|
rs367734333
|
0.00005
|
NM_022114.4(PRDM16):c.1800C>T (p.Asp600=)
|
rs375279095
|
0.00005
|
NM_022114.4(PRDM16):c.1893C>T (p.Ser631=)
|
rs372411909
|
0.00005
|
NM_022114.4(PRDM16):c.1926C>T (p.Ser642=)
|
rs369294573
|
0.00005
|
NM_022114.4(PRDM16):c.1961C>T (p.Ala654Val)
|
rs771684634
|
0.00005
|
NM_022114.4(PRDM16):c.2034C>T (p.Pro678=)
|
rs371635702
|
0.00005
|
NM_022114.4(PRDM16):c.2100C>T (p.Ala700=)
|
rs565237990
|
0.00005
|
NM_022114.4(PRDM16):c.2275C>T (p.Arg759Trp)
|
rs752903093
|
0.00005
|
NM_022114.4(PRDM16):c.2646G>A (p.Leu882=)
|
rs1060504134
|
0.00005
|
NM_022114.4(PRDM16):c.3103G>A (p.Ala1035Thr)
|
rs765394108
|
0.00005
|
NM_022114.4(PRDM16):c.3306C>T (p.Asp1102=)
|
rs199800219
|
0.00005
|
NM_022114.4(PRDM16):c.3405C>T (p.Ala1135=)
|
rs765114438
|
0.00005
|
NM_022114.4(PRDM16):c.3442G>A (p.Glu1148Lys)
|
rs746465588
|
0.00005
|
NM_022114.4(PRDM16):c.3761T>C (p.Leu1254Pro)
|
rs367785185
|
0.00005
|
NM_022114.4(PRDM16):c.762C>T (p.Gly254=)
|
rs763433232
|
0.00005
|
NM_033337.3(CAV3):c.244G>A (p.Val82Ile)
|
rs112626848
|
0.00005
|
NM_033337.3(CAV3):c.451G>A (p.Val151Ile)
|
rs780870487
|
0.00005
|
NM_145054.5(CFAP52):c.1780C>T (p.Arg594Cys)
|
rs200319536
|
0.00005
|
NM_172201.2(KCNE2):c.252C>T (p.Tyr84=)
|
rs1028976664
|
0.00005
|
NM_174934.4(SCN4B):c.633G>A (p.Thr211=)
|
rs111905160
|
0.00005
|
NM_000218.3(KCNQ1):c.1033-13C>T
|
rs765281450
|
0.00004
|
NM_000218.3(KCNQ1):c.1033-15T>A
|
rs534945737
|
0.00004
|
NM_000218.3(KCNQ1):c.1033-4C>T
|
rs543599445
|
0.00004
|
NM_000218.3(KCNQ1):c.1033-5C>G
|
rs764094211
|
0.00004
|
NM_000218.3(KCNQ1):c.1107G>A (p.Pro369=)
|
rs746037904
|
0.00004
|
NM_000218.3(KCNQ1):c.1345G>A (p.Glu449Lys)
|
rs372583676
|
0.00004
|
NM_000218.3(KCNQ1):c.1393+9C>A
|
rs774803201
|
0.00004
|
NM_000218.3(KCNQ1):c.1456G>A (p.Ala486Thr)
|
rs753256800
|
0.00004
|
NM_000218.3(KCNQ1):c.1533G>A (p.Arg511=)
|
rs535306115
|
0.00004
|
NM_000218.3(KCNQ1):c.1748G>A (p.Arg583His)
|
rs199473482
|
0.00004
|
NM_000218.3(KCNQ1):c.1750G>A (p.Gly584Ser)
|
rs199472811
|
0.00004
|
NM_000218.3(KCNQ1):c.1905G>A (p.Gly635=)
|
rs1003639764
|
0.00004
|
NM_000218.3(KCNQ1):c.1945G>A (p.Asp649Asn)
|
rs781333509
|
0.00004
|
NM_000218.3(KCNQ1):c.230C>T (p.Ser77Phe)
|
rs774349962
|
0.00004
|
NM_000218.3(KCNQ1):c.242C>T (p.Pro81Leu)
|
rs771921468
|
0.00004
|
NM_000218.3(KCNQ1):c.385G>A (p.Val129Ile)
|
rs199472683
|
0.00004
|
NM_000218.3(KCNQ1):c.41G>T (p.Arg14Leu)
|
rs1424013094
|
0.00004
|
NM_000218.3(KCNQ1):c.478-16C>T
|
rs758656397
|
0.00004
|
NM_000218.3(KCNQ1):c.583C>T (p.Arg195Trp)
|
rs150172393
|
0.00004
|
NM_000218.3(KCNQ1):c.603C>T (p.Ile201=)
|
rs146190510
|
0.00004
|
NM_000218.3(KCNQ1):c.613G>A (p.Val205Met)
|
rs151344631
|
0.00004
|
NM_000218.3(KCNQ1):c.889G>A (p.Gly297Ser)
|
rs34320941
|
0.00004
|
NM_000219.6(KCNE1):c.127G>A (p.Glu43Lys)
|
rs755781709
|
0.00004
|
NM_000219.6(KCNE1):c.222G>A (p.Ser74=)
|
rs766767618
|
0.00004
|
NM_000238.4(KCNH2):c.1128+14G>A
|
rs1017169925
|
0.00004
|
NM_000238.4(KCNH2):c.1128+1869C>T
|
rs62492438
|
0.00004
|
NM_000238.4(KCNH2):c.1128+1884G>A
|
rs765679790
|
0.00004
|
NM_000238.4(KCNH2):c.1129-17G>A
|
rs376741938
|
0.00004
|
NM_000238.4(KCNH2):c.115T>C (p.Cys39Arg)
|
rs757491162
|
0.00004
|
NM_000238.4(KCNH2):c.1179G>A (p.Pro393=)
|
rs200020952
|
0.00004
|
NM_000238.4(KCNH2):c.1181G>A (p.Arg394His)
|
rs781140785
|
0.00004
|
NM_000238.4(KCNH2):c.1307C>T (p.Thr436Met)
|
rs199472901
|
0.00004
|
NM_000238.4(KCNH2):c.1458C>T (p.Pro486=)
|
rs376388545
|
0.00004
|
NM_000238.4(KCNH2):c.1471G>A (p.Val491Ile)
|
rs374376640
|
0.00004
|
NM_000238.4(KCNH2):c.1524C>T (p.Phe508=)
|
rs555601424
|
0.00004
|
NM_000238.4(KCNH2):c.1608G>A (p.Ala536=)
|
rs144925439
|
0.00004
|
NM_000238.4(KCNH2):c.1644C>T (p.Ala548=)
|
rs370764268
|
0.00004
|
NM_000238.4(KCNH2):c.1945+18C>T
|
rs778276270
|
0.00004
|
NM_000238.4(KCNH2):c.1946-14G>A
|
rs371820756
|
0.00004
|
NM_000238.4(KCNH2):c.2035C>T (p.Arg679Trp)
|
rs79624542
|
0.00004
|
NM_000238.4(KCNH2):c.2131A>G (p.Ile711Val)
|
rs199473532
|
0.00004
|
NM_000238.4(KCNH2):c.2142C>T (p.Asn714=)
|
rs552000706
|
0.00004
|
NM_000238.4(KCNH2):c.2361C>T (p.Ile787=)
|
rs147635827
|
0.00004
|
NM_000238.4(KCNH2):c.2665T>G (p.Leu889Val)
|
rs765427343
|
0.00004
|
NM_000238.4(KCNH2):c.2675G>A (p.Arg892His)
|
rs774216337
|
0.00004
|
NM_000238.4(KCNH2):c.2717C>T (p.Ser906Leu)
|
rs199473435
|
0.00004
|
NM_000238.4(KCNH2):c.2793G>A (p.Pro931=)
|
rs200976506
|
0.00004
|
NM_000238.4(KCNH2):c.2810G>A (p.Ser937Asn)
|
rs199473540
|
0.00004
|
NM_000238.4(KCNH2):c.2860C>T (p.Arg954Cys)
|
rs141401803
|
0.00004
|
NM_000238.4(KCNH2):c.2863C>G (p.Leu955Val)
|
rs199473012
|
0.00004
|
NM_000238.4(KCNH2):c.2889C>T (p.Pro963=)
|
rs749814759
|
0.00004
|
NM_000238.4(KCNH2):c.2901G>A (p.Pro967=)
|
rs780481239
|
0.00004
|
NM_000238.4(KCNH2):c.2943C>T (p.Ser981=)
|
rs374528441
|
0.00004
|
NM_000238.4(KCNH2):c.2994C>T (p.Phe998=)
|
rs368954514
|
0.00004
|
NM_000238.4(KCNH2):c.3097C>T (p.Arg1033Trp)
|
rs199473021
|
0.00004
|
NM_000238.4(KCNH2):c.3109G>A (p.Asp1037Asn)
|
rs199473023
|
0.00004
|
NM_000238.4(KCNH2):c.3153-3C>T
|
rs1165322354
|
0.00004
|
NM_000238.4(KCNH2):c.3164G>A (p.Arg1055Gln)
|
rs41307270
|
0.00004
|
NM_000238.4(KCNH2):c.3229G>A (p.Ala1077Thr)
|
rs201382073
|
0.00004
|
NM_000238.4(KCNH2):c.3347C>T (p.Ala1116Val)
|
rs199473032
|
0.00004
|
NM_000238.4(KCNH2):c.391G>T (p.Val131Leu)
|
rs142590566
|
0.00004
|
NM_000238.4(KCNH2):c.738C>A (p.Gly246=)
|
rs1189681084
|
0.00004
|
NM_000238.4(KCNH2):c.77-10G>C
|
rs774772373
|
0.00004
|
NM_000238.4(KCNH2):c.783G>A (p.Ser261=)
|
rs769470521
|
0.00004
|
NM_000238.4(KCNH2):c.823A>C (p.Ser275Arg)
|
rs1268162009
|
0.00004
|
NM_000238.4(KCNH2):c.918G>A (p.Gly306=)
|
rs761554886
|
0.00004
|
NM_000719.7(CACNA1C):c.102G>A (p.Ala34=)
|
rs376345869
|
0.00004
|
NM_000719.7(CACNA1C):c.1065G>A (p.Thr355=)
|
rs757055492
|
0.00004
|
NM_000719.7(CACNA1C):c.1104G>A (p.Val368=)
|
rs377274770
|
0.00004
|
NM_000719.7(CACNA1C):c.1114-10G>A
|
rs371725005
|
0.00004
|
NM_000719.7(CACNA1C):c.1217+13A>G
|
rs781570516
|
0.00004
|
NM_000719.7(CACNA1C):c.1434C>T (p.Asn478=)
|
rs765805414
|
0.00004
|
NM_000719.7(CACNA1C):c.1477C>A (p.Leu493Met)
|
rs376530064
|
0.00004
|
NM_000719.7(CACNA1C):c.1481+16G>A
|
rs369604192
|
0.00004
|
NM_000719.7(CACNA1C):c.1487G>A (p.Arg496Gln)
|
rs369255950
|
0.00004
|
NM_000719.7(CACNA1C):c.1554C>T (p.Arg518=)
|
rs398123517
|
0.00004
|
NM_000719.7(CACNA1C):c.1555G>A (p.Ala519Thr)
|
rs371702432
|
0.00004
|
NM_000719.7(CACNA1C):c.1620C>T (p.Thr540=)
|
rs893883530
|
0.00004
|
NM_000719.7(CACNA1C):c.1674G>A (p.Thr558=)
|
rs781180544
|
0.00004
|
NM_000719.7(CACNA1C):c.201C>T (p.Ser67=)
|
rs766851793
|
0.00004
|
NM_000719.7(CACNA1C):c.2327A>G (p.Lys776Arg)
|
rs786205751
|
0.00004
|
NM_000719.7(CACNA1C):c.2429C>T (p.Thr810Met)
|
rs772235214
|
0.00004
|
NM_000719.7(CACNA1C):c.2637G>A (p.Ala879=)
|
rs199629800
|
0.00004
|
NM_000719.7(CACNA1C):c.2663+15T>G
|
rs182986691
|
0.00004
|
NM_000719.7(CACNA1C):c.2664-6G>A
|
rs374269485
|
0.00004
|
NM_000719.7(CACNA1C):c.2664-7C>T
|
rs575664788
|
0.00004
|
NM_000719.7(CACNA1C):c.2816T>C (p.Val939Ala)
|
rs754495060
|
0.00004
|
NM_000719.7(CACNA1C):c.2853+189A>G
|
rs370050438
|
0.00004
|
NM_000719.7(CACNA1C):c.2960+15C>T
|
rs769108641
|
0.00004
|
NM_000719.7(CACNA1C):c.300G>A (p.Pro100=)
|
rs764323907
|
0.00004
|
NM_000719.7(CACNA1C):c.3081G>A (p.Arg1027=)
|
rs746010296
|
0.00004
|
NM_000719.7(CACNA1C):c.3201G>A (p.Ala1067=)
|
rs758461435
|
0.00004
|
NM_000719.7(CACNA1C):c.3330C>T (p.Thr1110=)
|
rs375202118
|
0.00004
|
NM_000719.7(CACNA1C):c.3567C>T (p.Cys1189=)
|
rs202058956
|
0.00004
|
NM_000719.7(CACNA1C):c.3717+11G>A
|
rs763622598
|
0.00004
|
NM_000719.7(CACNA1C):c.3718-12C>T
|
rs774165526
|
0.00004
|
NM_000719.7(CACNA1C):c.375A>G (p.Pro125=)
|
rs587780882
|
0.00004
|
NM_000719.7(CACNA1C):c.3945+18G>A
|
rs775246723
|
0.00004
|
NM_000719.7(CACNA1C):c.4044G>A (p.Thr1348=)
|
rs911952595
|
0.00004
|
NM_000719.7(CACNA1C):c.4075-15T>C
|
rs1025618556
|
0.00004
|
NM_000719.7(CACNA1C):c.4128G>A (p.Val1376=)
|
rs377173101
|
0.00004
|
NM_000719.7(CACNA1C):c.4170C>T (p.Thr1390=)
|
rs587780878
|
0.00004
|
NM_000719.7(CACNA1C):c.426G>A (p.Ala142=)
|
rs546786746
|
0.00004
|
NM_000719.7(CACNA1C):c.4526+12G>C
|
rs748926089
|
0.00004
|
NM_000719.7(CACNA1C):c.478-19T>G
|
rs571558332
|
0.00004
|
NM_000719.7(CACNA1C):c.4863G>A (p.Thr1621=)
|
rs780301618
|
0.00004
|
NM_000719.7(CACNA1C):c.4899G>A (p.Lys1633=)
|
rs368667721
|
0.00004
|
NM_000719.7(CACNA1C):c.5120T>C (p.Val1707Ala)
|
rs531161884
|
0.00004
|
NM_000719.7(CACNA1C):c.5136C>T (p.Ser1712=)
|
rs780871697
|
0.00004
|
NM_000719.7(CACNA1C):c.5181G>A (p.Pro1727=)
|
rs370149297
|
0.00004
|
NM_000719.7(CACNA1C):c.5226G>A (p.Ser1742=)
|
rs368281620
|
0.00004
|
NM_000719.7(CACNA1C):c.5277G>A (p.Ser1759=)
|
rs371931644
|
0.00004
|
NM_000719.7(CACNA1C):c.5320G>A (p.Ala1774Thr)
|
rs767425352
|
0.00004
|
NM_000719.7(CACNA1C):c.5424G>A (p.Ala1808=)
|
rs587780881
|
0.00004
|
NM_000719.7(CACNA1C):c.5599C>T (p.Arg1867Trp)
|
rs369421219
|
0.00004
|
NM_000719.7(CACNA1C):c.5737G>A (p.Asp1913Asn)
|
rs181502604
|
0.00004
|
NM_000719.7(CACNA1C):c.5785-15C>A
|
rs777236425
|
0.00004
|
NM_000719.7(CACNA1C):c.6001G>A (p.Gly2001Ser)
|
rs552478740
|
0.00004
|
NM_000719.7(CACNA1C):c.6022G>A (p.Ala2008Thr)
|
rs765885227
|
0.00004
|
NM_000719.7(CACNA1C):c.6054G>A (p.Val2018=)
|
rs370090255
|
0.00004
|
NM_000719.7(CACNA1C):c.6224A>C (p.Glu2075Ala)
|
rs749035949
|
0.00004
|
NM_000719.7(CACNA1C):c.6324C>T (p.Ala2108=)
|
rs757538773
|
0.00004
|
NM_000719.7(CACNA1C):c.687C>T (p.Ala229=)
|
rs201664704
|
0.00004
|
NM_000719.7(CACNA1C):c.828G>A (p.Leu276=)
|
rs540934161
|
0.00004
|
NM_000719.7(CACNA1C):c.855C>T (p.Ile285=)
|
rs752809686
|
0.00004
|
NM_000719.7(CACNA1C):c.916+16G>A
|
rs553880579
|
0.00004
|
NM_000890.5(KCNJ5):c.366C>T (p.Gly122=)
|
rs375205252
|
0.00004
|
NM_000890.5(KCNJ5):c.554G>T (p.Cys185Phe)
|
rs760375676
|
0.00004
|
NM_000891.3(KCNJ2):c.1164C>T (p.Asp388=)
|
rs150855087
|
0.00004
|
NM_000891.3(KCNJ2):c.1199C>T (p.Thr400Met)
|
rs144022753
|
0.00004
|
NM_000891.3(KCNJ2):c.119G>A (p.Arg40Gln)
|
rs766143485
|
0.00004
|
NM_000891.3(KCNJ2):c.511A>G (p.Ile171Val)
|
rs150326473
|
0.00004
|
NM_000891.3(KCNJ2):c.570C>T (p.Asn190=)
|
rs183993685
|
0.00004
|
NM_000891.3(KCNJ2):c.597C>T (p.Ala199=)
|
rs771056622
|
0.00004
|
NM_001106.4(ACVR2B):c.147C>T (p.Cys49=)
|
rs201686292
|
0.00004
|
NM_001106.4(ACVR2B):c.148G>A (p.Glu50Lys)
|
rs371445433
|
0.00004
|
NM_001106.4(ACVR2B):c.243C>T (p.Asp81=)
|
rs781394045
|
0.00004
|
NM_001136271.3(NKX2-6):c.649G>T (p.Gly217Cys)
|
rs946224551
|
0.00004
|
NM_001136271.3(NKX2-6):c.673C>T (p.Pro225Ser)
|
rs913645847
|
0.00004
|
NM_001148.6(ANK2):c.10330G>A (p.Val3444Ile)
|
rs377186833
|
0.00004
|
NM_001148.6(ANK2):c.10392G>A (p.Lys3464=)
|
rs566264323
|
0.00004
|
NM_001148.6(ANK2):c.10503A>G (p.Ile3501Met)
|
rs370472530
|
0.00004
|
NM_001148.6(ANK2):c.10809T>A (p.Ile3603=)
|
rs924379504
|
0.00004
|
NM_001148.6(ANK2):c.10935T>C (p.Ile3645=)
|
rs143932461
|
0.00004
|
NM_001148.6(ANK2):c.10945A>G (p.Met3649Val)
|
rs145856327
|
0.00004
|
NM_001148.6(ANK2):c.1110C>T (p.His370=)
|
rs371839121
|
0.00004
|
NM_001148.6(ANK2):c.11399A>C (p.Glu3800Ala)
|
rs773222006
|
0.00004
|
NM_001148.6(ANK2):c.11516G>C (p.Ser3839Thr)
|
rs148654834
|
0.00004
|
NM_001148.6(ANK2):c.11864A>G (p.Asn3955Ser)
|
rs201555985
|
0.00004
|
NM_001148.6(ANK2):c.132G>A (p.Leu44=)
|
rs150986299
|
0.00004
|
NM_001148.6(ANK2):c.1683+15A>G
|
rs754371069
|
0.00004
|
NM_001148.6(ANK2):c.1722A>C (p.Gly574=)
|
rs754496484
|
0.00004
|
NM_001148.6(ANK2):c.1737A>C (p.Ala579=)
|
rs892057800
|
0.00004
|
NM_001148.6(ANK2):c.1773T>C (p.Ser591=)
|
rs374775005
|
0.00004
|
NM_001148.6(ANK2):c.1829A>T (p.Lys610Met)
|
rs370070322
|
0.00004
|
NM_001148.6(ANK2):c.1896G>A (p.Pro632=)
|
rs140761981
|
0.00004
|
NM_001148.6(ANK2):c.1993C>T (p.Pro665Ser)
|
rs758281393
|
0.00004
|
NM_001148.6(ANK2):c.2010G>A (p.Ser670=)
|
rs370715876
|
0.00004
|
NM_001148.6(ANK2):c.2265C>T (p.Asn755=)
|
rs765273107
|
0.00004
|
NM_001148.6(ANK2):c.2443G>A (p.Val815Ile)
|
rs753719949
|
0.00004
|
NM_001148.6(ANK2):c.2466C>G (p.Thr822=)
|
rs553116512
|
0.00004
|
NM_001148.6(ANK2):c.2475+19C>A
|
rs377657569
|
0.00004
|
NM_001148.6(ANK2):c.2622A>G (p.Ser874=)
|
rs764486532
|
0.00004
|
NM_001148.6(ANK2):c.2901-16C>G
|
rs200750637
|
0.00004
|
NM_001148.6(ANK2):c.2964G>T (p.Gly988=)
|
rs779092487
|
0.00004
|
NM_001148.6(ANK2):c.3176T>C (p.Leu1059Ser)
|
rs45541631
|
0.00004
|
NM_001148.6(ANK2):c.3379+17C>T
|
rs201185141
|
0.00004
|
NM_001148.6(ANK2):c.3632G>A (p.Gly1211Asp)
|
rs758014143
|
0.00004
|
NM_001148.6(ANK2):c.3930C>T (p.Ser1310=)
|
rs563444325
|
0.00004
|
NM_001148.6(ANK2):c.417A>G (p.Gln139=)
|
rs145234030
|
0.00004
|
NM_001148.6(ANK2):c.4369A>G (p.Lys1457Glu)
|
rs369038140
|
0.00004
|
NM_001148.6(ANK2):c.4653C>T (p.Ile1551=)
|
rs200539502
|
0.00004
|
NM_001148.6(ANK2):c.4835C>T (p.Thr1612Ile)
|
rs765274871
|
0.00004
|
NM_001148.6(ANK2):c.5314G>A (p.Ala1772Thr)
|
rs199609429
|
0.00004
|
NM_001148.6(ANK2):c.5329G>C (p.Val1777Leu)
|
rs886059014
|
0.00004
|
NM_001148.6(ANK2):c.5438T>C (p.Leu1813Pro)
|
rs1554552296
|
0.00004
|
NM_001148.6(ANK2):c.5607G>A (p.Ala1869=)
|
rs760246803
|
0.00004
|
NM_001148.6(ANK2):c.5758G>A (p.Gly1920Arg)
|
rs140189724
|
0.00004
|
NM_001148.6(ANK2):c.5936C>T (p.Ser1979Leu)
|
rs531574502
|
0.00004
|
NM_001148.6(ANK2):c.6561C>T (p.Phe2187=)
|
rs950082624
|
0.00004
|
NM_001148.6(ANK2):c.6585C>T (p.Ser2195=)
|
rs147316211
|
0.00004
|
NM_001148.6(ANK2):c.6725C>T (p.Thr2242Met)
|
rs376408404
|
0.00004
|
NM_001148.6(ANK2):c.6726G>A (p.Thr2242=)
|
rs778145810
|
0.00004
|
NM_001148.6(ANK2):c.6801A>G (p.Thr2267=)
|
rs774126279
|
0.00004
|
NM_001148.6(ANK2):c.6973G>C (p.Asp2325His)
|
rs1298469624
|
0.00004
|
NM_001148.6(ANK2):c.7105G>T (p.Val2369Phe)
|
rs758054052
|
0.00004
|
NM_001148.6(ANK2):c.7149G>A (p.Pro2383=)
|
rs200877971
|
0.00004
|
NM_001148.6(ANK2):c.7396C>T (p.Arg2466Cys)
|
rs562115547
|
0.00004
|
NM_001148.6(ANK2):c.7458C>G (p.His2486Gln)
|
rs776972443
|
0.00004
|
NM_001148.6(ANK2):c.7499C>T (p.Thr2500Met)
|
rs200377748
|
0.00004
|
NM_001148.6(ANK2):c.7578G>A (p.Ser2526=)
|
rs74930244
|
0.00004
|
NM_001148.6(ANK2):c.8041C>G (p.Leu2681Val)
|
rs1489919946
|
0.00004
|
NM_001148.6(ANK2):c.8087C>T (p.Pro2696Leu)
|
rs371879286
|
0.00004
|
NM_001148.6(ANK2):c.80A>C (p.Lys27Thr)
|
rs769843073
|
0.00004
|
NM_001148.6(ANK2):c.8216C>G (p.Ser2739Cys)
|
rs1389133986
|
0.00004
|
NM_001148.6(ANK2):c.8286A>G (p.Leu2762=)
|
rs751252941
|
0.00004
|
NM_001148.6(ANK2):c.8395G>A (p.Asp2799Asn)
|
rs374145576
|
0.00004
|
NM_001148.6(ANK2):c.8647T>G (p.Phe2883Val)
|
rs778307564
|
0.00004
|
NM_001148.6(ANK2):c.8716A>G (p.Met2906Val)
|
rs533349333
|
0.00004
|
NM_001148.6(ANK2):c.9153C>T (p.Asp3051=)
|
rs144397802
|
0.00004
|
NM_001148.6(ANK2):c.9569T>C (p.Val3190Ala)
|
rs764211092
|
0.00004
|
NM_001148.6(ANK2):c.9679A>C (p.Thr3227Pro)
|
rs140604600
|
0.00004
|
NM_001148.6(ANK2):c.9822C>T (p.Pro3274=)
|
rs144939151
|
0.00004
|
NM_001148.6(ANK2):c.9915T>G (p.Pro3305=)
|
rs753252376
|
0.00004
|
NM_001276345.2(TNNT2):c.10A>C (p.Ile4Leu)
|
rs139705141
|
0.00004
|
NM_001276345.2(TNNT2):c.248A>G (p.Asn83Ser)
|
rs397516450
|
0.00004
|
NM_001276345.2(TNNT2):c.403G>A (p.Asp135Asn)
|
rs765359025
|
0.00004
|
NM_001276345.2(TNNT2):c.461G>A (p.Arg154Gln)
|
rs745632066
|
0.00004
|
NM_001276345.2(TNNT2):c.52+13G>A
|
rs376820377
|
0.00004
|
NM_001276345.2(TNNT2):c.601-7G>A
|
rs369759523
|
0.00004
|
NM_001276345.2(TNNT2):c.706G>A (p.Glu236Lys)
|
rs730881107
|
0.00004
|
NM_001276345.2(TNNT2):c.720-13C>G
|
rs377714587
|
0.00004
|
NM_001276345.2(TNNT2):c.720-5T>G
|
rs730881092
|
0.00004
|
NM_001276345.2(TNNT2):c.720-7C>T
|
rs376303087
|
0.00004
|
NM_001276345.2(TNNT2):c.779T>C (p.Leu260Pro)
|
rs376037051
|
0.00004
|
NM_001276345.2(TNNT2):c.810+5G>A
|
rs730881113
|
0.00004
|
NM_001276345.2(TNNT2):c.882C>T (p.Thr294=)
|
rs45465693
|
0.00004
|
NM_001308093.3(GATA4):c.1106C>G (p.Pro369Arg)
|
rs775379687
|
0.00004
|
NM_001308093.3(GATA4):c.1236G>A (p.Ala412=)
|
rs771755685
|
0.00004
|
NM_001308093.3(GATA4):c.1243G>A (p.Val415Ile)
|
rs900347264
|
0.00004
|
NM_001308093.3(GATA4):c.1311C>T (p.His437=)
|
rs779684582
|
0.00004
|
NM_001308093.3(GATA4):c.244A>G (p.Thr82Ala)
|
rs961114777
|
0.00004
|
NM_001308093.3(GATA4):c.283G>A (p.Asp95Asn)
|
rs745305589
|
0.00004
|
NM_001308093.3(GATA4):c.30C>A (p.Asn10Lys)
|
rs1274085631
|
0.00004
|
NM_001308093.3(GATA4):c.487C>T (p.Pro163Ser)
|
rs387906769
|
0.00004
|
NM_001308093.3(GATA4):c.720C>T (p.Asn240=)
|
rs747431380
|
0.00004
|
NM_001308093.3(GATA4):c.747C>T (p.Asn249=)
|
rs140212153
|
0.00004
|
NM_001308093.3(GATA4):c.772C>T (p.Pro258Ser)
|
rs368091578
|
0.00004
|
NM_001308093.3(GATA4):c.789C>T (p.Ser263=)
|
rs777744927
|
0.00004
|
NM_001308093.3(GATA4):c.860C>T (p.Ala287Val)
|
rs116430078
|
0.00004
|
NM_001308093.3(GATA4):c.957A>G (p.Arg319=)
|
rs746390280
|
0.00004
|
NM_001308093.3(GATA4):c.994C>T (p.Pro332Ser)
|
rs768967856
|
0.00004
|
NM_001386795.1(DTNA):c.1346+5G>C
|
rs397517448
|
0.00004
|
NM_001386795.1(DTNA):c.1366C>T (p.Arg456Trp)
|
rs759435722
|
0.00004
|
NM_001386795.1(DTNA):c.1367G>A (p.Arg456Gln)
|
rs777787083
|
0.00004
|
NM_001386795.1(DTNA):c.1431G>A (p.Ser477=)
|
rs202088347
|
0.00004
|
NM_001386795.1(DTNA):c.1841C>T (p.Thr614Met)
|
rs757959636
|
0.00004
|
NM_001386795.1(DTNA):c.1875G>A (p.Gly625=)
|
rs542483546
|
0.00004
|
NM_001386795.1(DTNA):c.2153G>A (p.Arg718His)
|
rs111587625
|
0.00004
|
NM_001386795.1(DTNA):c.2157C>T (p.Gly719=)
|
rs754959223
|
0.00004
|
NM_001386795.1(DTNA):c.2168C>T (p.Thr723Met)
|
rs200977103
|
0.00004
|
NM_001386795.1(DTNA):c.657G>A (p.Pro219=)
|
rs140446215
|
0.00004
|
NM_001386795.1(DTNA):c.69G>A (p.Arg23=)
|
rs751765838
|
0.00004
|
NM_001386795.1(DTNA):c.877-8C>G
|
rs764675965
|
0.00004
|
NM_001386795.1(DTNA):c.904G>A (p.Ala302Thr)
|
rs199983981
|
0.00004
|
NM_001386795.1(DTNA):c.938G>A (p.Arg313His)
|
rs780636786
|
0.00004
|
NM_001386795.1(DTNA):c.978G>A (p.Lys326=)
|
rs200830541
|
0.00004
|
NM_001743.6(CALM2):c.285+5G>A
|
rs760654198
|
0.00004
|
NM_001743.6(CALM2):c.421+10T>G
|
rs1193912501
|
0.00004
|
NM_003098.3(SNTA1):c.1007G>A (p.Arg336Gln)
|
rs149126874
|
0.00004
|
NM_003098.3(SNTA1):c.1033G>A (p.Ala345Thr)
|
rs150474420
|
0.00004
|
NM_003098.3(SNTA1):c.1158G>A (p.Pro386=)
|
rs774320273
|
0.00004
|
NM_003098.3(SNTA1):c.1180C>T (p.Arg394Cys)
|
rs567451585
|
0.00004
|
NM_003098.3(SNTA1):c.1340G>A (p.Arg447Gln)
|
rs752729935
|
0.00004
|
NM_003098.3(SNTA1):c.227A>G (p.Gln76Arg)
|
rs929041171
|
0.00004
|
NM_003098.3(SNTA1):c.339C>G (p.Leu113=)
|
rs746780665
|
0.00004
|
NM_003098.3(SNTA1):c.388T>C (p.Phe130Leu)
|
rs199964677
|
0.00004
|
NM_003098.3(SNTA1):c.447T>C (p.Asp149=)
|
rs760527177
|
0.00004
|
NM_003098.3(SNTA1):c.452C>T (p.Ala151Val)
|
rs772936861
|
0.00004
|
NM_003098.3(SNTA1):c.513C>T (p.Asp171=)
|
rs182320044
|
0.00004
|
NM_003098.3(SNTA1):c.556G>A (p.Gly186Ser)
|
rs200755101
|
0.00004
|
NM_003098.3(SNTA1):c.820C>T (p.Arg274Trp)
|
rs201763667
|
0.00004
|
NM_003098.3(SNTA1):c.847T>C (p.Leu283=)
|
rs754862058
|
0.00004
|
NM_003098.3(SNTA1):c.910C>T (p.Leu304=)
|
rs141775350
|
0.00004
|
NM_003098.3(SNTA1):c.992G>A (p.Arg331His)
|
rs575431717
|
0.00004
|
NM_003413.4(ZIC3):c.906C>T (p.Cys302=)
|
rs779221820
|
0.00004
|
NM_003413.4(ZIC3):c.98C>T (p.Ala33Val)
|
rs201398331
|
0.00004
|
NM_004387.4(NKX2-5):c.188C>T (p.Ala63Val)
|
rs530270916
|
0.00004
|
NM_004387.4(NKX2-5):c.370A>G (p.Lys124Glu)
|
rs781260821
|
0.00004
|
NM_004387.4(NKX2-5):c.408A>G (p.Arg136=)
|
rs974468549
|
0.00004
|
NM_004387.4(NKX2-5):c.462G>A (p.Glu154=)
|
rs909098202
|
0.00004
|
NM_004387.4(NKX2-5):c.494C>T (p.Ala165Val)
|
rs984722259
|
0.00004
|
NM_004387.4(NKX2-5):c.673C>T (p.Arg225Cys)
|
rs866974584
|
0.00004
|
NM_004387.4(NKX2-5):c.706C>A (p.Pro236Thr)
|
rs770192204
|
0.00004
|
NM_004387.4(NKX2-5):c.753C>G (p.Asn251Lys)
|
rs765528024
|
0.00004
|
NM_004387.4(NKX2-5):c.82G>A (p.Ala28Thr)
|
rs1279595214
|
0.00004
|
NM_004387.4(NKX2-5):c.848C>A (p.Pro283Gln)
|
rs375086983
|
0.00004
|
NM_004387.4(NKX2-5):c.969C>T (p.Ala323=)
|
rs370499146
|
0.00004
|
NM_004821.3(HAND1):c.122A>G (p.Tyr41Cys)
|
rs564241048
|
0.00004
|
NM_004821.3(HAND1):c.219T>C (p.Gly73=)
|
rs6880185
|
0.00004
|
NM_005159.5(ACTC1):c.1053G>C (p.Leu351=)
|
rs151321743
|
0.00004
|
NM_005159.5(ACTC1):c.28C>A (p.Leu10Met)
|
rs397517057
|
0.00004
|
NM_005159.5(ACTC1):c.309C>T (p.His103=)
|
rs769303249
|
0.00004
|
NM_005159.5(ACTC1):c.56_57insCA (p.Lys20fs)
|
rs730880387
|
0.00004
|
NM_005159.5(ACTC1):c.623G>A (p.Arg208His)
|
rs142839840
|
0.00004
|
NM_005159.5(ACTC1):c.652C>T (p.Leu218=)
|
rs760269526
|
0.00004
|
NM_005257.6(GATA6):c.1302+3G>A
|
rs896413516
|
0.00004
|
NM_005257.6(GATA6):c.1516+19C>T
|
rs199658633
|
0.00004
|
NM_005257.6(GATA6):c.1628C>G (p.Ala543Gly)
|
rs761668180
|
0.00004
|
NM_005257.6(GATA6):c.1734C>T (p.Ala578=)
|
rs747397185
|
0.00004
|
NM_005257.6(GATA6):c.1754G>T (p.Arg585Leu)
|
rs201707559
|
0.00004
|
NM_005257.6(GATA6):c.282T>A (p.Pro94=)
|
rs374591296
|
0.00004
|
NM_005257.6(GATA6):c.477G>C (p.Pro159=)
|
rs771297576
|
0.00004
|
NM_005257.6(GATA6):c.762A>G (p.Ser254=)
|
rs1275066172
|
0.00004
|
NM_005257.6(GATA6):c.89G>A (p.Arg30Gln)
|
rs756406083
|
0.00004
|
NM_005257.6(GATA6):c.999T>C (p.His333=)
|
rs1317202692
|
0.00004
|
NM_005751.5(AKAP9):c.10027G>A (p.Asp3343Asn)
|
rs757454990
|
0.00004
|
NM_005751.5(AKAP9):c.10305A>T (p.Arg3435=)
|
rs372493917
|
0.00004
|
NM_005751.5(AKAP9):c.10560A>G (p.Gln3520=)
|
rs369522150
|
0.00004
|
NM_005751.5(AKAP9):c.10738T>A (p.Ser3580Thr)
|
rs767035977
|
0.00004
|
NM_005751.5(AKAP9):c.10880G>A (p.Gly3627Glu)
|
rs753656531
|
0.00004
|
NM_005751.5(AKAP9):c.10896+20C>T
|
rs765220786
|
0.00004
|
NM_005751.5(AKAP9):c.10940T>C (p.Ile3647Thr)
|
rs756215009
|
0.00004
|
NM_005751.5(AKAP9):c.11240C>T (p.Pro3747Leu)
|
rs373321787
|
0.00004
|
NM_005751.5(AKAP9):c.11270A>G (p.Asn3757Ser)
|
rs571076507
|
0.00004
|
NM_005751.5(AKAP9):c.11330+7A>G
|
rs781216766
|
0.00004
|
NM_005751.5(AKAP9):c.11490G>A (p.Thr3830=)
|
rs751636798
|
0.00004
|
NM_005751.5(AKAP9):c.11696C>T (p.Thr3899Ile)
|
rs199577930
|
0.00004
|
NM_005751.5(AKAP9):c.1508A>G (p.Gln503Arg)
|
rs374700234
|
0.00004
|
NM_005751.5(AKAP9):c.1538A>G (p.Lys513Arg)
|
rs786205713
|
0.00004
|
NM_005751.5(AKAP9):c.2113T>G (p.Leu705Val)
|
rs750905383
|
0.00004
|
NM_005751.5(AKAP9):c.2406A>G (p.Arg802=)
|
rs565850417
|
0.00004
|
NM_005751.5(AKAP9):c.2575G>A (p.Val859Ile)
|
rs751606673
|
0.00004
|
NM_005751.5(AKAP9):c.2951A>G (p.Lys984Arg)
|
rs765992335
|
0.00004
|
NM_005751.5(AKAP9):c.3345C>G (p.Ala1115=)
|
rs749254312
|
0.00004
|
NM_005751.5(AKAP9):c.3744A>C (p.Glu1248Asp)
|
rs374309022
|
0.00004
|
NM_005751.5(AKAP9):c.3927T>G (p.Ser1309=)
|
rs150875198
|
0.00004
|
NM_005751.5(AKAP9):c.4136C>T (p.Thr1379Met)
|
rs767728528
|
0.00004
|
NM_005751.5(AKAP9):c.4137G>A (p.Thr1379=)
|
rs766454113
|
0.00004
|
NM_005751.5(AKAP9):c.4195A>G (p.Thr1399Ala)
|
rs757261572
|
0.00004
|
NM_005751.5(AKAP9):c.4253G>A (p.Gly1418Asp)
|
rs374280470
|
0.00004
|
NM_005751.5(AKAP9):c.4282A>G (p.Ile1428Val)
|
rs368183690
|
0.00004
|
NM_005751.5(AKAP9):c.4553G>A (p.Ser1518Asn)
|
rs761276121
|
0.00004
|
NM_005751.5(AKAP9):c.4840C>T (p.Arg1614Trp)
|
rs772669837
|
0.00004
|
NM_005751.5(AKAP9):c.5251C>T (p.Arg1751Cys)
|
rs144269839
|
0.00004
|
NM_005751.5(AKAP9):c.5543C>G (p.Ser1848Cys)
|
rs189083857
|
0.00004
|
NM_005751.5(AKAP9):c.5668A>T (p.Thr1890Ser)
|
rs201558875
|
0.00004
|
NM_005751.5(AKAP9):c.5684G>A (p.Cys1895Tyr)
|
rs376670169
|
0.00004
|
NM_005751.5(AKAP9):c.5737C>G (p.Leu1913Val)
|
rs769085707
|
0.00004
|
NM_005751.5(AKAP9):c.5752A>C (p.Ser1918Arg)
|
rs1000673132
|
0.00004
|
NM_005751.5(AKAP9):c.6806A>T (p.Asp2269Val)
|
rs765553799
|
0.00004
|
NM_005751.5(AKAP9):c.6946-12A>G
|
rs375657019
|
0.00004
|
NM_005751.5(AKAP9):c.7074A>G (p.Lys2358=)
|
rs150968594
|
0.00004
|
NM_005751.5(AKAP9):c.7515G>A (p.Glu2505=)
|
rs761387563
|
0.00004
|
NM_005751.5(AKAP9):c.7675A>C (p.Ile2559Leu)
|
rs757278868
|
0.00004
|
NM_005751.5(AKAP9):c.7800T>C (p.Asp2600=)
|
rs770573236
|
0.00004
|
NM_005751.5(AKAP9):c.8079T>C (p.Ala2693=)
|
rs371316172
|
0.00004
|
NM_005751.5(AKAP9):c.8189A>G (p.Gln2730Arg)
|
rs80191629
|
0.00004
|
NM_005751.5(AKAP9):c.8314A>G (p.Ile2772Val)
|
rs759694779
|
0.00004
|
NM_005751.5(AKAP9):c.8355T>G (p.Thr2785=)
|
rs201128911
|
0.00004
|
NM_005751.5(AKAP9):c.8778A>G (p.Glu2926=)
|
rs779524120
|
0.00004
|
NM_005751.5(AKAP9):c.9025-19G>A
|
rs768077367
|
0.00004
|
NM_005751.5(AKAP9):c.9032A>G (p.Asp3011Gly)
|
rs745743634
|
0.00004
|
NM_005751.5(AKAP9):c.9068G>A (p.Arg3023Gln)
|
rs749484399
|
0.00004
|
NM_005751.5(AKAP9):c.9094C>G (p.Gln3032Glu)
|
rs779260877
|
0.00004
|
NM_005751.5(AKAP9):c.9115A>G (p.Ser3039Gly)
|
rs772348877
|
0.00004
|
NM_005751.5(AKAP9):c.9229G>A (p.Ala3077Thr)
|
rs189151663
|
0.00004
|
NM_005751.5(AKAP9):c.9446A>G (p.Glu3149Gly)
|
rs150579291
|
0.00004
|
NM_005751.5(AKAP9):c.9664T>G (p.Trp3222Gly)
|
rs765533928
|
0.00004
|
NM_005751.5(AKAP9):c.9729+17C>T
|
rs776936265
|
0.00004
|
NM_006888.6(CALM1):c.18C>T (p.Thr6=)
|
rs755065015
|
0.00004
|
NM_015335.5(MED13L):c.1127T>G (p.Met376Arg)
|
rs1210016465
|
0.00004
|
NM_015335.5(MED13L):c.1503A>G (p.Gln501=)
|
rs538329234
|
0.00004
|
NM_015335.5(MED13L):c.2778C>T (p.Pro926=)
|
rs144357346
|
0.00004
|
NM_015335.5(MED13L):c.3273C>T (p.Pro1091=)
|
rs145072799
|
0.00004
|
NM_015335.5(MED13L):c.3306A>G (p.Pro1102=)
|
rs375910790
|
0.00004
|
NM_015335.5(MED13L):c.3435C>T (p.Val1145=)
|
rs568906108
|
0.00004
|
NM_015335.5(MED13L):c.4396C>T (p.Arg1466Cys)
|
rs530432287
|
0.00004
|
NM_015335.5(MED13L):c.5261T>C (p.Val1754Ala)
|
rs373887964
|
0.00004
|
NM_015335.5(MED13L):c.6522C>T (p.Asn2174=)
|
rs370692319
|
0.00004
|
NM_018055.5(NODAL):c.778G>A (p.Gly260Arg)
|
rs121909283
|
0.00004
|
NM_021005.4(NR2F2):c.19A>G (p.Thr7Ala)
|
rs901462929
|
0.00004
|
NM_021005.4(NR2F2):c.264C>G (p.Gly88=)
|
rs757445345
|
0.00004
|
NM_022114.4(PRDM16):c.114C>T (p.Ala38=)
|
rs372823594
|
0.00004
|
NM_022114.4(PRDM16):c.1206C>T (p.Ser402=)
|
rs370042460
|
0.00004
|
NM_022114.4(PRDM16):c.1359G>A (p.Pro453=)
|
rs749676367
|
0.00004
|
NM_022114.4(PRDM16):c.1440C>T (p.His480=)
|
rs777323102
|
0.00004
|
NM_022114.4(PRDM16):c.1470C>T (p.Pro490=)
|
rs763999418
|
0.00004
|
NM_022114.4(PRDM16):c.1475G>A (p.Arg492Lys)
|
rs12061858
|
0.00004
|
NM_022114.4(PRDM16):c.1509G>A (p.Ala503=)
|
rs558211792
|
0.00004
|
NM_022114.4(PRDM16):c.153G>A (p.Pro51=)
|
rs1266307612
|
0.00004
|
NM_022114.4(PRDM16):c.1680C>T (p.Ser560=)
|
rs565375368
|
0.00004
|
NM_022114.4(PRDM16):c.171C>T (p.Ser57=)
|
rs369648897
|
0.00004
|
NM_022114.4(PRDM16):c.1863G>A (p.Thr621=)
|
rs1412454555
|
0.00004
|
NM_022114.4(PRDM16):c.1869G>A (p.Ser623=)
|
rs778188314
|
0.00004
|
NM_022114.4(PRDM16):c.1927G>A (p.Ala643Thr)
|
rs554385722
|
0.00004
|
NM_022114.4(PRDM16):c.1930G>A (p.Glu644Lys)
|
rs61756438
|
0.00004
|
NM_022114.4(PRDM16):c.2146C>G (p.Leu716Val)
|
rs530296389
|
0.00004
|
NM_022114.4(PRDM16):c.2276G>A (p.Arg759Gln)
|
rs762997591
|
0.00004
|
NM_022114.4(PRDM16):c.2283C>T (p.Ala761=)
|
rs751542963
|
0.00004
|
NM_022114.4(PRDM16):c.2419A>G (p.Ile807Val)
|
rs772583416
|
0.00004
|
NM_022114.4(PRDM16):c.2421C>T (p.Ile807=)
|
rs549044743
|
0.00004
|
NM_022114.4(PRDM16):c.2442C>A (p.Ser814Arg)
|
rs752476219
|
0.00004
|
NM_022114.4(PRDM16):c.2467C>T (p.Arg823Cys)
|
rs932569189
|
0.00004
|
NM_022114.4(PRDM16):c.2505C>T (p.Ala835=)
|
rs762623730
|
0.00004
|
NM_022114.4(PRDM16):c.2532G>A (p.Pro844=)
|
rs755046777
|
0.00004
|
NM_022114.4(PRDM16):c.2536C>T (p.Arg846Trp)
|
rs752922142
|
0.00004
|
NM_022114.4(PRDM16):c.2577G>A (p.Ser859=)
|
rs768230502
|
0.00004
|
NM_022114.4(PRDM16):c.2635G>A (p.Val879Met)
|
rs746861136
|
0.00004
|
NM_022114.4(PRDM16):c.2724G>C (p.Leu908=)
|
rs757917553
|
0.00004
|
NM_022114.4(PRDM16):c.2940-15G>A
|
rs538723120
|
0.00004
|
NM_022114.4(PRDM16):c.2992G>A (p.Val998Ile)
|
rs144180800
|
0.00004
|
NM_022114.4(PRDM16):c.3066C>T (p.Asn1022=)
|
rs747451506
|
0.00004
|
NM_022114.4(PRDM16):c.3097G>A (p.Glu1033Lys)
|
rs554867627
|
0.00004
|
NM_022114.4(PRDM16):c.3106C>T (p.Pro1036Ser)
|
rs375442968
|
0.00004
|
NM_022114.4(PRDM16):c.3156G>A (p.Ala1052=)
|
rs374274116
|
0.00004
|
NM_022114.4(PRDM16):c.316G>A (p.Ala106Thr)
|
rs766897178
|
0.00004
|
NM_022114.4(PRDM16):c.3198C>T (p.Asp1066=)
|
rs541579138
|
0.00004
|
NM_022114.4(PRDM16):c.3270G>A (p.Thr1090=)
|
rs375314464
|
0.00004
|
NM_022114.4(PRDM16):c.3272G>A (p.Arg1091Gln)
|
rs564269453
|
0.00004
|
NM_022114.4(PRDM16):c.3287C>T (p.Ala1096Val)
|
rs753755785
|
0.00004
|
NM_022114.4(PRDM16):c.3307G>A (p.Gly1103Ser)
|
rs780612473
|
0.00004
|
NM_022114.4(PRDM16):c.3327C>T (p.Gly1109=)
|
rs766134173
|
0.00004
|
NM_022114.4(PRDM16):c.3436G>A (p.Ala1146Thr)
|
rs377255144
|
0.00004
|
NM_022114.4(PRDM16):c.3499G>A (p.Val1167Met)
|
rs1229345087
|
0.00004
|
NM_022114.4(PRDM16):c.3521+12C>T
|
rs982195800
|
0.00004
|
NM_022114.4(PRDM16):c.3631G>A (p.Val1211Met)
|
rs376835158
|
0.00004
|
NM_022114.4(PRDM16):c.3696+11G>A
|
rs775474986
|
0.00004
|
NM_022114.4(PRDM16):c.3757T>C (p.Ser1253Pro)
|
rs903199574
|
0.00004
|
NM_022114.4(PRDM16):c.378C>T (p.Phe126=)
|
rs774801289
|
0.00004
|
NM_022114.4(PRDM16):c.445G>A (p.Glu149Lys)
|
rs576922307
|
0.00004
|
NM_022114.4(PRDM16):c.490G>A (p.Gly164Arg)
|
rs770235387
|
0.00004
|
NM_022114.4(PRDM16):c.777G>A (p.Ala259=)
|
rs557978089
|
0.00004
|
NM_022114.4(PRDM16):c.77G>A (p.Arg26Gln)
|
rs375422885
|
0.00004
|
NM_022114.4(PRDM16):c.885-10C>T
|
rs368200652
|
0.00004
|
NM_022114.4(PRDM16):c.885-5C>T
|
rs374596243
|
0.00004
|
NM_033337.3(CAV3):c.109G>C (p.Val37Leu)
|
rs374523166
|
0.00004
|
NM_033337.3(CAV3):c.201C>A (p.Val67=)
|
rs201593267
|
0.00004
|
NM_033337.3(CAV3):c.384C>T (p.Phe128=)
|
rs773934743
|
0.00004
|
NM_145020.5(CFAP53):c.71G>T (p.Arg24Ile)
|
rs754876515
|
0.00004
|
NM_145020.5(CFAP53):c.737A>T (p.Gln246Leu)
|
rs776670631
|
0.00004
|
NM_145020.5(CFAP53):c.769C>T (p.Arg257Cys)
|
rs367667250
|
0.00004
|
NM_145054.5(CFAP52):c.1652T>C (p.Met551Thr)
|
rs745330016
|
0.00004
|
NM_145054.5(CFAP52):c.509G>A (p.Arg170Gln)
|
rs34653219
|
0.00004
|
NM_172201.2(KCNE2):c.207G>A (p.Val69=)
|
rs780534713
|
0.00004
|
NM_172201.2(KCNE2):c.209G>A (p.Ser70Asn)
|
rs751931568
|
0.00004
|
NM_172201.2(KCNE2):c.222C>T (p.Ser74=)
|
rs755211128
|
0.00004
|
NM_172201.2(KCNE2):c.228A>G (p.Arg76=)
|
rs202169020
|
0.00004
|
NM_172201.2(KCNE2):c.229C>T (p.Arg77Trp)
|
rs141423405
|
0.00004
|
NM_172201.2(KCNE2):c.309A>G (p.Leu103=)
|
rs1387119980
|
0.00004
|
NM_172201.2(KCNE2):c.46C>T (p.Arg16Ter)
|
rs779306606
|
0.00004
|
NM_172201.2(KCNE2):c.67A>T (p.Met23Leu)
|
rs747045005
|
0.00004
|
NM_174934.4(SCN4B):c.235-18A>G
|
rs758764353
|
0.00004
|
NM_174934.4(SCN4B):c.347T>C (p.Ile116Thr)
|
rs769406938
|
0.00004
|
NM_174934.4(SCN4B):c.348T>C (p.Ile116=)
|
rs144127307
|
0.00004
|
NM_174934.4(SCN4B):c.463+3A>T
|
rs751139039
|
0.00004
|
NM_174934.4(SCN4B):c.507C>T (p.Val169=)
|
rs759761004
|
0.00004
|
NM_000218.3(KCNQ1):c.1197C>A (p.Ala399=)
|
rs756413033
|
0.00003
|
NM_000218.3(KCNQ1):c.1238A>G (p.Lys413Arg)
|
rs1351149628
|
0.00003
|
NM_000218.3(KCNQ1):c.1375G>A (p.Asp459Asn)
|
rs747704276
|
0.00003
|
NM_000218.3(KCNQ1):c.1378G>A (p.Gly460Ser)
|
rs199472783
|
0.00003
|
NM_000218.3(KCNQ1):c.1383T>C (p.Tyr461=)
|
rs794728527
|
0.00003
|
NM_000218.3(KCNQ1):c.1514+13A>G
|
rs532874422
|
0.00003
|
NM_000218.3(KCNQ1):c.1514+3G>A
|
rs374767819
|
0.00003
|
NM_000218.3(KCNQ1):c.1548C>T (p.Val516=)
|
rs748073960
|
0.00003
|
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter)
|
rs17215500
|
0.00003
|
NM_000218.3(KCNQ1):c.1555C>T (p.Arg519Cys)
|
rs199472787
|
0.00003
|
NM_000218.3(KCNQ1):c.1590+20T>C
|
rs761012323
|
0.00003
|
NM_000218.3(KCNQ1):c.1591-18T>C
|
rs1046721792
|
0.00003
|
NM_000218.3(KCNQ1):c.1591-19G>A
|
rs1167627067
|
0.00003
|
NM_000218.3(KCNQ1):c.1656C>T (p.Leu552=)
|
rs745675388
|
0.00003
|
NM_000218.3(KCNQ1):c.1767C>T (p.Gly589=)
|
rs368364062
|
0.00003
|
NM_000218.3(KCNQ1):c.1794+12C>G
|
rs727505084
|
0.00003
|
NM_000218.3(KCNQ1):c.1881C>T (p.Ser627=)
|
rs781272088
|
0.00003
|
NM_000218.3(KCNQ1):c.1936G>A (p.Gly646Ser)
|
rs763478809
|
0.00003
|
NM_000218.3(KCNQ1):c.1944C>T (p.Val648=)
|
rs201698592
|
0.00003
|
NM_000218.3(KCNQ1):c.2016C>T (p.Pro672=)
|
rs751946698
|
0.00003
|
NM_000218.3(KCNQ1):c.233A>C (p.Asp78Ala)
|
rs1846021008
|
0.00003
|
NM_000218.3(KCNQ1):c.484G>A (p.Val162Met)
|
rs199472692
|
0.00003
|
NM_000218.3(KCNQ1):c.501C>T (p.Phe167=)
|
rs774085613
|
0.00003
|
NM_000218.3(KCNQ1):c.618C>T (p.Val206=)
|
rs772565627
|
0.00003
|
NM_000218.3(KCNQ1):c.675G>A (p.Ser225=)
|
rs148566141
|
0.00003
|
NM_000218.3(KCNQ1):c.683+3G>A
|
rs1025802726
|
0.00003
|
NM_000218.3(KCNQ1):c.692G>A (p.Arg231His)
|
rs199472709
|
0.00003
|
NM_000218.3(KCNQ1):c.858C>T (p.Asp286=)
|
rs760047145
|
0.00003
|
NM_000218.3(KCNQ1):c.966G>A (p.Thr322=)
|
rs777450662
|
0.00003
|
NM_000219.6(KCNE1):c.107G>A (p.Arg36His)
|
rs199473351
|
0.00003
|
NM_000219.6(KCNE1):c.163G>A (p.Gly55Ser)
|
rs199473644
|
0.00003
|
NM_000219.6(KCNE1):c.173C>T (p.Thr58Ile)
|
rs747321794
|
0.00003
|
NM_000219.6(KCNE1):c.247G>A (p.Glu83Lys)
|
rs199473360
|
0.00003
|
NM_000219.6(KCNE1):c.293G>A (p.Arg98Gln)
|
rs150454912
|
0.00003
|
NM_000219.6(KCNE1):c.297C>G (p.Val99=)
|
rs780553669
|
0.00003
|
NM_000219.6(KCNE1):c.324C>T (p.Val108=)
|
rs200684060
|
0.00003
|
NM_000238.4(KCNH2):c.1067G>A (p.Arg356His)
|
rs730880118
|
0.00003
|
NM_000238.4(KCNH2):c.1128+13C>T
|
rs576438427
|
0.00003
|
NM_000238.4(KCNH2):c.1128+1830C>T
|
rs778819756
|
0.00003
|
NM_000238.4(KCNH2):c.1128+1852G>A
|
rs780068180
|
0.00003
|
NM_000238.4(KCNH2):c.1128+18G>A
|
rs1315084650
|
0.00003
|
NM_000238.4(KCNH2):c.1128+7G>A
|
rs200884259
|
0.00003
|
NM_000238.4(KCNH2):c.1281C>T (p.Tyr427=)
|
rs1291372587
|
0.00003
|
NM_000238.4(KCNH2):c.1463G>A (p.Arg488His)
|
rs546266276
|
0.00003
|
NM_000238.4(KCNH2):c.1648C>T (p.Leu550=)
|
rs773783499
|
0.00003
|
NM_000238.4(KCNH2):c.1749C>T (p.Ile583=)
|
rs765893780
|
0.00003
|
NM_000238.4(KCNH2):c.1887C>T (p.Asn629=)
|
rs41307295
|
0.00003
|
NM_000238.4(KCNH2):c.1888G>A (p.Val630Ile)
|
rs199472958
|
0.00003
|
NM_000238.4(KCNH2):c.1974C>T (p.Asn658=)
|
rs553107049
|
0.00003
|
NM_000238.4(KCNH2):c.2144C>T (p.Ala715Val)
|
rs780656919
|
0.00003
|
NM_000238.4(KCNH2):c.2146-16C>T
|
rs375568514
|
0.00003
|
NM_000238.4(KCNH2):c.2457C>T (p.Asn819=)
|
rs768725008
|
0.00003
|
NM_000238.4(KCNH2):c.2587C>T (p.Arg863Ter)
|
rs773724817
|
0.00003
|
NM_000238.4(KCNH2):c.2595C>T (p.Thr865=)
|
rs762327995
|
0.00003
|
NM_000238.4(KCNH2):c.2600T>C (p.Met867Thr)
|
rs752020408
|
0.00003
|
NM_000238.4(KCNH2):c.2607G>A (p.Pro869=)
|
rs199828796
|
0.00003
|
NM_000238.4(KCNH2):c.2624C>T (p.Thr875Met)
|
rs140743924
|
0.00003
|
NM_000238.4(KCNH2):c.2625G>A (p.Thr875=)
|
rs147980211
|
0.00003
|
NM_000238.4(KCNH2):c.2735G>A (p.Arg912Gln)
|
rs958442820
|
0.00003
|
NM_000238.4(KCNH2):c.2753G>A (p.Ser918Asn)
|
rs1268921735
|
0.00003
|
NM_000238.4(KCNH2):c.2770G>T (p.Gly924Trp)
|
rs794728397
|
0.00003
|
NM_000238.4(KCNH2):c.2792C>T (p.Pro931Leu)
|
rs749759697
|
0.00003
|
NM_000238.4(KCNH2):c.2843G>A (p.Arg948His)
|
rs199473011
|
0.00003
|
NM_000238.4(KCNH2):c.2886G>A (p.Arg962=)
|
rs774873967
|
0.00003
|
NM_000238.4(KCNH2):c.2892C>T (p.Pro964=)
|
rs769972412
|
0.00003
|
NM_000238.4(KCNH2):c.2902C>G (p.Pro968Ala)
|
rs753788508
|
0.00003
|
NM_000238.4(KCNH2):c.3072C>T (p.Asn1024=)
|
rs781274793
|
0.00003
|
NM_000238.4(KCNH2):c.3094C>T (p.Arg1032Trp)
|
rs373394254
|
0.00003
|
NM_000238.4(KCNH2):c.3153-4C>T
|
rs181119727
|
0.00003
|
NM_000238.4(KCNH2):c.3162C>G (p.Thr1054=)
|
rs368701315
|
0.00003
|
NM_000238.4(KCNH2):c.3224C>T (p.Pro1075Leu)
|
rs199473028
|
0.00003
|
NM_000238.4(KCNH2):c.3225G>A (p.Pro1075=)
|
rs778119775
|
0.00003
|
NM_000238.4(KCNH2):c.3247A>G (p.Thr1083Ala)
|
rs751559990
|
0.00003
|
NM_000238.4(KCNH2):c.3275C>T (p.Ser1092Phe)
|
rs147510453
|
0.00003
|
NM_000238.4(KCNH2):c.3365C>T (p.Pro1122Leu)
|
rs531460655
|
0.00003
|
NM_000238.4(KCNH2):c.3430G>A (p.Ala1144Thr)
|
rs199473034
|
0.00003
|
NM_000238.4(KCNH2):c.3459C>T (p.His1153=)
|
rs755599756
|
0.00003
|
NM_000238.4(KCNH2):c.3470C>T (p.Pro1157Leu)
|
rs143167166
|
0.00003
|
NM_000238.4(KCNH2):c.383A>G (p.Asn128Ser)
|
rs200343670
|
0.00003
|
NM_000238.4(KCNH2):c.504C>G (p.Pro168=)
|
rs547228640
|
0.00003
|
NM_000238.4(KCNH2):c.523G>T (p.Ala175Ser)
|
rs1296505812
|
0.00003
|
NM_000238.4(KCNH2):c.694C>T (p.Arg232Cys)
|
rs956828658
|
0.00003
|
NM_000238.4(KCNH2):c.6G>A (p.Pro2=)
|
rs976831436
|
0.00003
|
NM_000238.4(KCNH2):c.724C>T (p.Arg242Cys)
|
rs199472872
|
0.00003
|
NM_000238.4(KCNH2):c.76+3G>A
|
rs779301847
|
0.00003
|
NM_000719.7(CACNA1C):c.1467C>T (p.Cys489=)
|
rs781074075
|
0.00003
|
NM_000719.7(CACNA1C):c.1486C>T (p.Arg496Trp)
|
rs760888275
|
0.00003
|
NM_000719.7(CACNA1C):c.1520G>A (p.Arg507His)
|
rs768830617
|
0.00003
|
NM_000719.7(CACNA1C):c.1649A>G (p.Asn550Ser)
|
rs781306162
|
0.00003
|
NM_000719.7(CACNA1C):c.1693G>A (p.Ala565Thr)
|
rs777945001
|
0.00003
|
NM_000719.7(CACNA1C):c.1782C>T (p.Phe594=)
|
rs374976163
|
0.00003
|
NM_000719.7(CACNA1C):c.1797C>T (p.Gly599=)
|
rs367614356
|
0.00003
|
NM_000719.7(CACNA1C):c.1823C>T (p.Thr608Ile)
|
rs757507674
|
0.00003
|
NM_000719.7(CACNA1C):c.1863C>T (p.Cys621=)
|
rs747010529
|
0.00003
|
NM_000719.7(CACNA1C):c.1980C>A (p.Leu660=)
|
rs754356413
|
0.00003
|
NM_000719.7(CACNA1C):c.2229C>A (p.Ile743=)
|
rs759734767
|
0.00003
|
NM_000719.7(CACNA1C):c.2396C>A (p.Ser799Tyr)
|
rs398123519
|
0.00003
|
NM_000719.7(CACNA1C):c.241C>A (p.Arg81=)
|
rs745759667
|
0.00003
|
NM_000719.7(CACNA1C):c.2486A>G (p.Asn829Ser)
|
rs773015884
|
0.00003
|
NM_000719.7(CACNA1C):c.258T>C (p.Tyr86=)
|
rs776280284
|
0.00003
|
NM_000719.7(CACNA1C):c.2793+7A>G
|
rs371643663
|
0.00003
|
NM_000719.7(CACNA1C):c.2813T>C (p.Ile938Thr)
|
rs377165829
|
0.00003
|
NM_000719.7(CACNA1C):c.2853+212T>C
|
rs188733100
|
0.00003
|
NM_000719.7(CACNA1C):c.285C>T (p.Thr95=)
|
rs768096981
|
0.00003
|
NM_000719.7(CACNA1C):c.2961-5C>T
|
rs781703710
|
0.00003
|
NM_000719.7(CACNA1C):c.3157-7C>T
|
rs759274364
|
0.00003
|
NM_000719.7(CACNA1C):c.3295G>A (p.Asp1099Asn)
|
rs771549676
|
0.00003
|
NM_000719.7(CACNA1C):c.3386C>T (p.Thr1129Met)
|
rs374549078
|
0.00003
|
NM_000719.7(CACNA1C):c.3531C>T (p.Tyr1177=)
|
rs754527651
|
0.00003
|
NM_000719.7(CACNA1C):c.3558+9C>T
|
rs866480818
|
0.00003
|
NM_000719.7(CACNA1C):c.3828+11G>A
|
rs745632403
|
0.00003
|
NM_000719.7(CACNA1C):c.3829-9C>T
|
rs762649453
|
0.00003
|
NM_000719.7(CACNA1C):c.3943A>G (p.Met1315Val)
|
rs756734279
|
0.00003
|
NM_000719.7(CACNA1C):c.3948C>T (p.Asn1316=)
|
rs150092451
|
0.00003
|
NM_000719.7(CACNA1C):c.4050G>A (p.Leu1350=)
|
rs371640459
|
0.00003
|
NM_000719.7(CACNA1C):c.4289A>C (p.Lys1430Thr)
|
rs759934820
|
0.00003
|
NM_000719.7(CACNA1C):c.4727-10C>T
|
rs749903718
|
0.00003
|
NM_000719.7(CACNA1C):c.49+7C>G
|
rs779393130
|
0.00003
|
NM_000719.7(CACNA1C):c.4956+13G>A
|
rs199753929
|
0.00003
|
NM_000719.7(CACNA1C):c.4956+16C>T
|
rs781417944
|
0.00003
|
NM_000719.7(CACNA1C):c.50-3C>T
|
rs780161540
|
0.00003
|
NM_000719.7(CACNA1C):c.5091+8G>A
|
rs768117202
|
0.00003
|
NM_000719.7(CACNA1C):c.5092-5T>C
|
rs760689991
|
0.00003
|
NM_000719.7(CACNA1C):c.5098G>A (p.Gly1700Ser)
|
rs761966966
|
0.00003
|
NM_000719.7(CACNA1C):c.5118C>T (p.His1706=)
|
rs372547992
|
0.00003
|
NM_000719.7(CACNA1C):c.5140G>A (p.Gly1714Ser)
|
rs533676935
|
0.00003
|
NM_000719.7(CACNA1C):c.5307C>T (p.Asn1769=)
|
rs530924728
|
0.00003
|
NM_000719.7(CACNA1C):c.5343C>T (p.Pro1781=)
|
rs374858814
|
0.00003
|
NM_000719.7(CACNA1C):c.5382C>T (p.His1794=)
|
rs377680168
|
0.00003
|
NM_000719.7(CACNA1C):c.5387C>T (p.Pro1796Leu)
|
rs199999203
|
0.00003
|
NM_000719.7(CACNA1C):c.538G>A (p.Ala180Thr)
|
rs786205769
|
0.00003
|
NM_000719.7(CACNA1C):c.5408G>A (p.Arg1803Gln)
|
rs201918158
|
0.00003
|
NM_000719.7(CACNA1C):c.5445-10G>A
|
rs368236368
|
0.00003
|
NM_000719.7(CACNA1C):c.5455C>T (p.Arg1819Trp)
|
rs760812948
|
0.00003
|
NM_000719.7(CACNA1C):c.5492C>T (p.Thr1831Met)
|
rs186015395
|
0.00003
|
NM_000719.7(CACNA1C):c.5493G>A (p.Thr1831=)
|
rs368046891
|
0.00003
|
NM_000719.7(CACNA1C):c.5680+7G>A
|
rs561730431
|
0.00003
|
NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg)
|
rs374528680
|
0.00003
|
NM_000719.7(CACNA1C):c.5895C>T (p.Pro1965=)
|
rs200227029
|
0.00003
|
NM_000719.7(CACNA1C):c.5987C>T (p.Ala1996Val)
|
rs749674325
|
0.00003
|
NM_000719.7(CACNA1C):c.5993C>A (p.Thr1998Asn)
|
rs771424529
|
0.00003
|
NM_000719.7(CACNA1C):c.6030A>G (p.Arg2010=)
|
rs372555640
|
0.00003
|
NM_000719.7(CACNA1C):c.6059G>A (p.Ser2020Asn)
|
rs373503739
|
0.00003
|
NM_000719.7(CACNA1C):c.6064G>C (p.Ala2022Pro)
|
rs758974396
|
0.00003
|
NM_000719.7(CACNA1C):c.6239A>G (p.Asn2080Ser)
|
rs886049209
|
0.00003
|
NM_000719.7(CACNA1C):c.6329G>T (p.Gly2110Val)
|
rs745731628
|
0.00003
|
NM_000719.7(CACNA1C):c.6368C>G (p.Pro2123Arg)
|
rs970305864
|
0.00003
|
NM_000719.7(CACNA1C):c.6369G>A (p.Pro2123=)
|
rs201211211
|
0.00003
|
NM_000719.7(CACNA1C):c.65G>T (p.Ser22Ile)
|
rs769703001
|
0.00003
|
NM_000890.5(KCNJ5):c.1230T>G (p.Gly410=)
|
rs772009654
|
0.00003
|
NM_000890.5(KCNJ5):c.224G>A (p.Ser75Asn)
|
rs892317617
|
0.00003
|
NM_000890.5(KCNJ5):c.351C>T (p.Asp117=)
|
rs765873474
|
0.00003
|
NM_000890.5(KCNJ5):c.405C>T (p.Gly135=)
|
rs1249014742
|
0.00003
|
NM_000890.5(KCNJ5):c.438C>T (p.Thr146=)
|
rs140697732
|
0.00003
|
NM_000890.5(KCNJ5):c.591G>A (p.Ala197=)
|
rs750048771
|
0.00003
|
NM_000890.5(KCNJ5):c.615C>T (p.Asn205=)
|
rs370546974
|
0.00003
|
NM_000890.5(KCNJ5):c.631C>T (p.Arg211Trp)
|
rs143790141
|
0.00003
|
NM_000890.5(KCNJ5):c.795C>T (p.Asp265=)
|
rs757895735
|
0.00003
|
NM_000890.5(KCNJ5):c.955C>T (p.Arg319Trp)
|
rs778735978
|
0.00003
|
NM_000891.3(KCNJ2):c.1205C>T (p.Thr402Met)
|
rs759070406
|
0.00003
|
NM_000891.3(KCNJ2):c.1206G>A (p.Thr402=)
|
rs1279223538
|
0.00003
|
NM_000891.3(KCNJ2):c.1227C>T (p.His409=)
|
rs933444870
|
0.00003
|
NM_000891.3(KCNJ2):c.1259C>T (p.Pro420Leu)
|
rs749707062
|
0.00003
|
NM_000891.3(KCNJ2):c.225G>A (p.Thr75=)
|
rs192172778
|
0.00003
|
NM_000891.3(KCNJ2):c.23G>A (p.Arg8His)
|
rs140090605
|
0.00003
|
NM_000891.3(KCNJ2):c.359A>C (p.Lys120Thr)
|
rs375646186
|
0.00003
|
NM_000891.3(KCNJ2):c.513C>T (p.Ile171=)
|
rs573888708
|
0.00003
|
NM_001106.4(ACVR2B):c.143G>T (p.Arg48Leu)
|
rs752059653
|
0.00003
|
NM_001106.4(ACVR2B):c.366G>A (p.Pro122=)
|
rs551737290
|
0.00003
|
NM_001106.4(ACVR2B):c.771C>T (p.Leu257=)
|
rs527396511
|
0.00003
|
NM_001136271.3(NKX2-6):c.644G>A (p.Arg215His)
|
rs916318048
|
0.00003
|
NM_001136271.3(NKX2-6):c.826G>T (p.Ala276Ser)
|
rs959054178
|
0.00003
|
NM_001148.6(ANK2):c.10099T>A (p.Ser3367Thr)
|
rs878854255
|
0.00003
|
NM_001148.6(ANK2):c.10147G>A (p.Ala3383Thr)
|
rs374257100
|
0.00003
|
NM_001148.6(ANK2):c.10447G>A (p.Asp3483Asn)
|
rs1323284534
|
0.00003
|
NM_001148.6(ANK2):c.10641T>C (p.Ile3547=)
|
rs377212743
|
0.00003
|
NM_001148.6(ANK2):c.10707C>T (p.Ile3569=)
|
rs539298479
|
0.00003
|
NM_001148.6(ANK2):c.10743C>T (p.Gly3581=)
|
rs1224768492
|
0.00003
|
NM_001148.6(ANK2):c.10924C>A (p.Arg3642=)
|
rs757033443
|
0.00003
|
NM_001148.6(ANK2):c.11098T>G (p.Ser3700Ala)
|
rs1438803009
|
0.00003
|
NM_001148.6(ANK2):c.11118C>T (p.Cys3706=)
|
rs1431671939
|
0.00003
|
NM_001148.6(ANK2):c.1111G>A (p.Val371Ile)
|
rs759437203
|
0.00003
|
NM_001148.6(ANK2):c.1118C>T (p.Ala373Val)
|
rs772102642
|
0.00003
|
NM_001148.6(ANK2):c.11256T>C (p.Asp3752=)
|
rs956234289
|
0.00003
|
NM_001148.6(ANK2):c.11509G>A (p.Glu3837Lys)
|
rs766615247
|
0.00003
|
NM_001148.6(ANK2):c.11594A>G (p.Asp3865Gly)
|
rs140606121
|
0.00003
|
NM_001148.6(ANK2):c.11695G>T (p.Val3899Phe)
|
rs878854256
|
0.00003
|
NM_001148.6(ANK2):c.1173G>A (p.Pro391=)
|
rs755621902
|
0.00003
|
NM_001148.6(ANK2):c.1189-5C>T
|
rs779990637
|
0.00003
|
NM_001148.6(ANK2):c.140T>C (p.Val47Ala)
|
rs555003393
|
0.00003
|
NM_001148.6(ANK2):c.1698C>T (p.Pro566=)
|
rs764406723
|
0.00003
|
NM_001148.6(ANK2):c.1824C>T (p.Asn608=)
|
rs778848510
|
0.00003
|
NM_001148.6(ANK2):c.1881+9C>A
|
rs200659747
|
0.00003
|
NM_001148.6(ANK2):c.2548+18T>C
|
rs200150276
|
0.00003
|
NM_001148.6(ANK2):c.2781G>C (p.Val927=)
|
rs534751969
|
0.00003
|
NM_001148.6(ANK2):c.2813A>T (p.Lys938Met)
|
rs778597568
|
0.00003
|
NM_001148.6(ANK2):c.2890A>G (p.Ile964Val)
|
rs750129234
|
0.00003
|
NM_001148.6(ANK2):c.3572G>A (p.Arg1191Gln)
|
rs780110299
|
0.00003
|
NM_001148.6(ANK2):c.3592-8T>A
|
rs771376396
|
0.00003
|
NM_001148.6(ANK2):c.3829A>T (p.Thr1277Ser)
|
rs1385787370
|
0.00003
|
NM_001148.6(ANK2):c.4206T>C (p.Ser1402=)
|
rs769675138
|
0.00003
|
NM_001148.6(ANK2):c.4260G>A (p.Thr1420=)
|
rs571896168
|
0.00003
|
NM_001148.6(ANK2):c.4371+6G>A
|
rs778112618
|
0.00003
|
NM_001148.6(ANK2):c.4782T>G (p.Ile1594Met)
|
rs775386505
|
0.00003
|
NM_001148.6(ANK2):c.4912A>G (p.Asn1638Asp)
|
rs748573794
|
0.00003
|
NM_001148.6(ANK2):c.5388C>T (p.Asp1796=)
|
rs374140329
|
0.00003
|
NM_001148.6(ANK2):c.5495C>T (p.Thr1832Ile)
|
rs144773694
|
0.00003
|
NM_001148.6(ANK2):c.5575C>A (p.Pro1859Thr)
|
rs781312863
|
0.00003
|
NM_001148.6(ANK2):c.5588C>T (p.Thr1863Met)
|
rs536962908
|
0.00003
|
NM_001148.6(ANK2):c.5741C>T (p.Pro1914Leu)
|
rs1483719390
|
0.00003
|
NM_001148.6(ANK2):c.5760G>A (p.Gly1920=)
|
rs370865498
|
0.00003
|
NM_001148.6(ANK2):c.5777C>T (p.Pro1926Leu)
|
rs764446660
|
0.00003
|
NM_001148.6(ANK2):c.5826C>T (p.Ser1942=)
|
rs368036068
|
0.00003
|
NM_001148.6(ANK2):c.6662G>A (p.Gly2221Glu)
|
rs185384934
|
0.00003
|
NM_001148.6(ANK2):c.6769C>A (p.Gln2257Lys)
|
rs747833774
|
0.00003
|
NM_001148.6(ANK2):c.693+6G>A
|
rs565218126
|
0.00003
|
NM_001148.6(ANK2):c.6977A>G (p.Asp2326Gly)
|
rs777618921
|
0.00003
|
NM_001148.6(ANK2):c.7136C>A (p.Thr2379Lys)
|
rs753351853
|
0.00003
|
NM_001148.6(ANK2):c.7221A>G (p.Gln2407=)
|
rs776036456
|
0.00003
|
NM_001148.6(ANK2):c.7245C>T (p.Ser2415=)
|
rs762603334
|
0.00003
|
NM_001148.6(ANK2):c.7500G>A (p.Thr2500=)
|
rs374941639
|
0.00003
|
NM_001148.6(ANK2):c.7569G>A (p.Glu2523=)
|
rs1053383831
|
0.00003
|
NM_001148.6(ANK2):c.7729G>A (p.Gly2577Arg)
|
rs768485016
|
0.00003
|
NM_001148.6(ANK2):c.792+4T>C
|
rs374253227
|
0.00003
|
NM_001148.6(ANK2):c.7978G>C (p.Val2660Leu)
|
rs140042254
|
0.00003
|
NM_001148.6(ANK2):c.8330G>T (p.Cys2777Phe)
|
rs769322588
|
0.00003
|
NM_001148.6(ANK2):c.8417T>C (p.Val2806Ala)
|
rs769091762
|
0.00003
|
NM_001148.6(ANK2):c.8550G>A (p.Leu2850=)
|
rs748855197
|
0.00003
|
NM_001148.6(ANK2):c.8552C>T (p.Pro2851Leu)
|
rs368569512
|
0.00003
|
NM_001148.6(ANK2):c.8698C>G (p.Gln2900Glu)
|
rs769751525
|
0.00003
|
NM_001148.6(ANK2):c.8814T>A (p.Ser2938=)
|
rs759775013
|
0.00003
|
NM_001148.6(ANK2):c.9383G>A (p.Ser3128Asn)
|
rs146504109
|
0.00003
|
NM_001148.6(ANK2):c.9474G>A (p.Pro3158=)
|
rs145111737
|
0.00003
|
NM_001148.6(ANK2):c.9939C>T (p.Thr3313=)
|
rs562895246
|
0.00003
|
NM_001276345.2(TNNT2):c.103G>A (p.Glu35Lys)
|
rs867180029
|
0.00003
|
NM_001276345.2(TNNT2):c.164-14C>T
|
rs778709814
|
0.00003
|
NM_001276345.2(TNNT2):c.294+6C>T
|
rs758051932
|
0.00003
|
NM_001276345.2(TNNT2):c.411+6T>A
|
rs761043932
|
0.00003
|
NM_001276345.2(TNNT2):c.435C>T (p.Ala145=)
|
rs375675827
|
0.00003
|
NM_001276345.2(TNNT2):c.436G>A (p.Glu146Lys)
|
rs371142225
|
0.00003
|
NM_001276345.2(TNNT2):c.460C>T (p.Arg154Trp)
|
rs483352832
|
0.00003
|
NM_001276345.2(TNNT2):c.52+12C>T
|
rs199865577
|
0.00003
|
NM_001276345.2(TNNT2):c.552G>A (p.Lys184=)
|
rs566113559
|
0.00003
|
NM_001276345.2(TNNT2):c.601-6G>A
|
rs760197357
|
0.00003
|
NM_001276345.2(TNNT2):c.609+3G>A
|
rs997358710
|
0.00003
|
NM_001276345.2(TNNT2):c.617G>A (p.Arg206Gln)
|
rs371047521
|
0.00003
|
NM_001276345.2(TNNT2):c.691A>G (p.Ile231Val)
|
rs886045828
|
0.00003
|
NM_001276345.2(TNNT2):c.721G>C (p.Glu241Gln)
|
rs1189945246
|
0.00003
|
NM_001276345.2(TNNT2):c.810+6C>T
|
rs727504260
|
0.00003
|
NM_001276345.2(TNNT2):c.883G>A (p.Gly295Arg)
|
rs147940106
|
0.00003
|
NM_001276345.2(TNNT2):c.96C>T (p.Asp32=)
|
rs751728017
|
0.00003
|
NM_001308093.3(GATA4):c.1067C>G (p.Thr356Ser)
|
rs200167770
|
0.00003
|
NM_001308093.3(GATA4):c.1087C>T (p.Arg363Cys)
|
rs145999237
|
0.00003
|
NM_001308093.3(GATA4):c.1149+6C>T
|
rs572050627
|
0.00003
|
NM_001308093.3(GATA4):c.1183C>A (p.Pro395Thr)
|
rs200319078
|
0.00003
|
NM_001308093.3(GATA4):c.1205C>T (p.Ser402Leu)
|
rs748130910
|
0.00003
|
NM_001308093.3(GATA4):c.1206G>A (p.Ser402=)
|
rs141909277
|
0.00003
|
NM_001308093.3(GATA4):c.1231T>C (p.Tyr411His)
|
rs372808540
|
0.00003
|
NM_001308093.3(GATA4):c.1276G>A (p.Asp426Asn)
|
rs56208331
|
0.00003
|
NM_001308093.3(GATA4):c.260C>A (p.Pro87Gln)
|
rs1050251819
|
0.00003
|
NM_001308093.3(GATA4):c.34G>C (p.Gly12Arg)
|
rs750597721
|
0.00003
|
NM_001308093.3(GATA4):c.599C>T (p.Ala200Val)
|
rs1313649801
|
0.00003
|
NM_001308093.3(GATA4):c.762G>A (p.Pro254=)
|
rs143454176
|
0.00003
|
NM_001308093.3(GATA4):c.787-16G>A
|
rs201533584
|
0.00003
|
NM_001308093.3(GATA4):c.930A>G (p.Ala310=)
|
rs779911000
|
0.00003
|
NM_001308093.3(GATA4):c.94G>C (p.Ala32Pro)
|
rs773545065
|
0.00003
|
NM_001386795.1(DTNA):c.1082G>A (p.Arg361Lys)
|
rs776353848
|
0.00003
|
NM_001386795.1(DTNA):c.149-15C>G
|
rs752608761
|
0.00003
|
NM_001386795.1(DTNA):c.1637G>A (p.Arg546Gln)
|
rs773504046
|
0.00003
|
NM_001386795.1(DTNA):c.1748A>G (p.Gln583Arg)
|
rs769821768
|
0.00003
|
NM_001386795.1(DTNA):c.1838C>T (p.Pro613Leu)
|
rs145425478
|
0.00003
|
NM_001386795.1(DTNA):c.1965G>A (p.Met655Ile)
|
rs749109824
|
0.00003
|
NM_001386795.1(DTNA):c.2156G>A (p.Gly719Asp)
|
rs928341511
|
0.00003
|
NM_001386795.1(DTNA):c.449-19T>G
|
rs1469662484
|
0.00003
|
NM_001386795.1(DTNA):c.497G>A (p.Arg166Gln)
|
rs376007740
|
0.00003
|
NM_001386795.1(DTNA):c.515G>A (p.Arg172Gln)
|
rs774940705
|
0.00003
|
NM_001386795.1(DTNA):c.536C>T (p.Thr179Met)
|
rs752144270
|
0.00003
|
NM_001386795.1(DTNA):c.604-13T>G
|
rs761037945
|
0.00003
|
NM_001386795.1(DTNA):c.604-7T>A
|
rs766599616
|
0.00003
|
NM_001386795.1(DTNA):c.68-7G>A
|
rs372126412
|
0.00003
|
NM_001386795.1(DTNA):c.937C>T (p.Arg313Cys)
|
rs536920784
|
0.00003
|
NM_001743.6(CALM2):c.348G>A (p.Lys116=)
|
rs546507069
|
0.00003
|
NM_001743.6(CALM2):c.4-10C>T
|
rs375578672
|
0.00003
|
NM_003098.3(SNTA1):c.114C>T (p.Asp38=)
|
rs780018849
|
0.00003
|
NM_003098.3(SNTA1):c.1238-11C>T
|
rs779500941
|
0.00003
|
NM_003098.3(SNTA1):c.1309G>A (p.Glu437Lys)
|
rs371648806
|
0.00003
|
NM_003098.3(SNTA1):c.160G>C (p.Gly54Arg)
|
rs786205848
|
0.00003
|
NM_003098.3(SNTA1):c.233C>T (p.Pro78Leu)
|
rs1241571413
|
0.00003
|
NM_003098.3(SNTA1):c.255G>C (p.Arg85=)
|
rs1335742203
|
0.00003
|
NM_003098.3(SNTA1):c.310+19G>A
|
rs554224001
|
0.00003
|
NM_003098.3(SNTA1):c.496+3A>G
|
rs768667646
|
0.00003
|
NM_003098.3(SNTA1):c.551C>T (p.Ser184Leu)
|
rs753294770
|
0.00003
|
NM_003098.3(SNTA1):c.776C>T (p.Ser259Leu)
|
rs774643587
|
0.00003
|
NM_003098.3(SNTA1):c.817C>T (p.Pro273Ser)
|
rs750459988
|
0.00003
|
NM_003413.4(ZIC3):c.1248T>G (p.Asp416Glu)
|
rs755343529
|
0.00003
|
NM_004387.4(NKX2-5):c.334+19C>T
|
rs755215586
|
0.00003
|
NM_004387.4(NKX2-5):c.356C>A (p.Ala119Glu)
|
rs369025518
|
0.00003
|
NM_004387.4(NKX2-5):c.755C>T (p.Ala252Val)
|
rs762090105
|
0.00003
|
NM_004387.4(NKX2-5):c.771G>T (p.Pro257=)
|
rs762428190
|
0.00003
|
NM_004387.4(NKX2-5):c.809G>A (p.Cys270Tyr)
|
rs587782931
|
0.00003
|
NM_004387.4(NKX2-5):c.827C>G (p.Ala276Gly)
|
rs751564052
|
0.00003
|
NM_004387.4(NKX2-5):c.939G>A (p.Ser313=)
|
rs748311298
|
0.00003
|
NM_005159.5(ACTC1):c.270C>T (p.His90=)
|
rs138812333
|
0.00003
|
NM_005159.5(ACTC1):c.300C>T (p.Pro100=)
|
rs141322728
|
0.00003
|
NM_005159.5(ACTC1):c.399C>T (p.Ala133=)
|
rs764630691
|
0.00003
|
NM_005159.5(ACTC1):c.498C>T (p.Pro166=)
|
rs370082904
|
0.00003
|
NM_005159.5(ACTC1):c.51G>A (p.Gly17=)
|
rs993704001
|
0.00003
|
NM_005159.5(ACTC1):c.616+6T>C
|
rs574862389
|
0.00003
|
NM_005159.5(ACTC1):c.941G>A (p.Arg314His)
|
rs121912673
|
0.00003
|
NM_005184.4(CALM3):c.35-13C>G
|
rs369539598
|
0.00003
|
NM_005257.6(GATA6):c.1123G>A (p.Gly375Ser)
|
rs954640705
|
0.00003
|
NM_005257.6(GATA6):c.1572T>C (p.Asp524=)
|
rs199684979
|
0.00003
|
NM_005257.6(GATA6):c.1696G>A (p.Asp566Asn)
|
rs947813106
|
0.00003
|
NM_005257.6(GATA6):c.786C>A (p.Arg262=)
|
rs1437667524
|
0.00003
|
NM_005257.6(GATA6):c.949C>A (p.Arg317=)
|
rs1249153916
|
0.00003
|
NM_005751.5(AKAP9):c.1034C>T (p.Thr345Ile)
|
rs372425259
|
0.00003
|
NM_005751.5(AKAP9):c.10486G>A (p.Ala3496Thr)
|
rs759219564
|
0.00003
|
NM_005751.5(AKAP9):c.11495G>A (p.Arg3832His)
|
rs781296769
|
0.00003
|
NM_005751.5(AKAP9):c.11578G>T (p.Gly3860Cys)
|
rs752923990
|
0.00003
|
NM_005751.5(AKAP9):c.1203C>T (p.Val401=)
|
rs748951815
|
0.00003
|
NM_005751.5(AKAP9):c.1259A>G (p.Gln420Arg)
|
rs375876545
|
0.00003
|
NM_005751.5(AKAP9):c.1269A>G (p.Glu423=)
|
rs1409141394
|
0.00003
|
NM_005751.5(AKAP9):c.1535T>C (p.Leu512Pro)
|
rs376638814
|
0.00003
|
NM_005751.5(AKAP9):c.1682C>T (p.Ala561Val)
|
rs149162273
|
0.00003
|
NM_005751.5(AKAP9):c.1685A>G (p.His562Arg)
|
rs145033147
|
0.00003
|
NM_005751.5(AKAP9):c.1890A>G (p.Leu630=)
|
rs200976922
|
0.00003
|
NM_005751.5(AKAP9):c.1981A>C (p.Ile661Leu)
|
rs961090757
|
0.00003
|
NM_005751.5(AKAP9):c.2324C>T (p.Ala775Val)
|
rs751926047
|
0.00003
|
NM_005751.5(AKAP9):c.2349A>G (p.Glu783=)
|
rs61757667
|
0.00003
|
NM_005751.5(AKAP9):c.2812A>G (p.Thr938Ala)
|
rs148584647
|
0.00003
|
NM_005751.5(AKAP9):c.3083G>A (p.Ser1028Asn)
|
rs551552300
|
0.00003
|
NM_005751.5(AKAP9):c.3447G>A (p.Glu1149=)
|
rs779022140
|
0.00003
|
NM_005751.5(AKAP9):c.3751+16C>G
|
rs769984472
|
0.00003
|
NM_005751.5(AKAP9):c.4143G>A (p.Pro1381=)
|
rs754974720
|
0.00003
|
NM_005751.5(AKAP9):c.4328A>T (p.Glu1443Val)
|
rs773257553
|
0.00003
|
NM_005751.5(AKAP9):c.4331T>C (p.Val1444Ala)
|
rs762794527
|
0.00003
|
NM_005751.5(AKAP9):c.4440G>T (p.Val1480=)
|
rs768773867
|
0.00003
|
NM_005751.5(AKAP9):c.4815G>A (p.Thr1605=)
|
rs141237587
|
0.00003
|
NM_005751.5(AKAP9):c.4872A>G (p.Glu1624=)
|
rs570384292
|
0.00003
|
NM_005751.5(AKAP9):c.5180C>T (p.Ala1727Val)
|
rs369047678
|
0.00003
|
NM_005751.5(AKAP9):c.5368+4C>T
|
rs759286117
|
0.00003
|
NM_005751.5(AKAP9):c.5369-3T>C
|
rs375778014
|
0.00003
|
NM_005751.5(AKAP9):c.5565A>G (p.Glu1855=)
|
rs141094356
|
0.00003
|
NM_005751.5(AKAP9):c.5639G>A (p.Arg1880His)
|
rs770002854
|
0.00003
|
NM_005751.5(AKAP9):c.576+18G>T
|
rs1428653311
|
0.00003
|
NM_005751.5(AKAP9):c.5928G>A (p.Leu1976=)
|
rs142251048
|
0.00003
|
NM_005751.5(AKAP9):c.6302A>C (p.Gln2101Pro)
|
rs201545032
|
0.00003
|
NM_005751.5(AKAP9):c.6330+19T>C
|
rs376744370
|
0.00003
|
NM_005751.5(AKAP9):c.6476C>T (p.Ala2159Val)
|
rs772512812
|
0.00003
|
NM_005751.5(AKAP9):c.6720T>C (p.Ser2240=)
|
rs762890144
|
0.00003
|
NM_005751.5(AKAP9):c.7026G>A (p.Lys2342=)
|
rs763275688
|
0.00003
|
NM_005751.5(AKAP9):c.7147A>C (p.Ser2383Arg)
|
rs765144371
|
0.00003
|
NM_005751.5(AKAP9):c.7281A>G (p.Thr2427=)
|
rs145915675
|
0.00003
|
NM_005751.5(AKAP9):c.752T>G (p.Leu251Arg)
|
rs748330070
|
0.00003
|
NM_005751.5(AKAP9):c.7572C>T (p.Asp2524=)
|
rs1004449825
|
0.00003
|
NM_005751.5(AKAP9):c.7775T>A (p.Leu2592Gln)
|
rs754011064
|
0.00003
|
NM_005751.5(AKAP9):c.7980A>C (p.Lys2660Asn)
|
rs371461279
|
0.00003
|
NM_005751.5(AKAP9):c.8074G>A (p.Glu2692Lys)
|
rs749538379
|
0.00003
|
NM_005751.5(AKAP9):c.8205A>G (p.Gln2735=)
|
rs780002980
|
0.00003
|
NM_005751.5(AKAP9):c.821A>G (p.Gln274Arg)
|
rs371664197
|
0.00003
|
NM_005751.5(AKAP9):c.8613G>C (p.Leu2871Phe)
|
rs780211536
|
0.00003
|
NM_005751.5(AKAP9):c.8833-3C>T
|
rs746505983
|
0.00003
|
NM_005751.5(AKAP9):c.9140C>T (p.Thr3047Met)
|
rs756203652
|
0.00003
|
NM_005751.5(AKAP9):c.9443C>T (p.Thr3148Met)
|
rs878854812
|
0.00003
|
NM_005751.5(AKAP9):c.9830T>C (p.Ile3277Thr)
|
rs144021475
|
0.00003
|
NM_005751.5(AKAP9):c.9886T>A (p.Leu3296Ile)
|
rs369263681
|
0.00003
|
NM_015335.5(MED13L):c.1124A>G (p.His375Arg)
|
rs376059806
|
0.00003
|
NM_015335.5(MED13L):c.1223A>G (p.Asn408Ser)
|
rs377207761
|
0.00003
|
NM_015335.5(MED13L):c.1390T>G (p.Ser464Ala)
|
rs769509528
|
0.00003
|
NM_015335.5(MED13L):c.1855T>G (p.Cys619Gly)
|
rs1345208839
|
0.00003
|
NM_015335.5(MED13L):c.2196A>G (p.Lys732=)
|
rs545013557
|
0.00003
|
NM_015335.5(MED13L):c.2470-13C>T
|
rs757038374
|
0.00003
|
NM_015335.5(MED13L):c.2913G>T (p.Leu971=)
|
rs201948814
|
0.00003
|
NM_015335.5(MED13L):c.3752G>A (p.Arg1251His)
|
rs142574863
|
0.00003
|
NM_015335.5(MED13L):c.3819G>A (p.Thr1273=)
|
rs542711978
|
0.00003
|
NM_015335.5(MED13L):c.4261A>G (p.Ile1421Val)
|
rs747089502
|
0.00003
|
NM_015335.5(MED13L):c.564A>G (p.Pro188=)
|
rs370983626
|
0.00003
|
NM_015335.5(MED13L):c.5850G>A (p.Leu1950=)
|
rs1482014512
|
0.00003
|
NM_015335.5(MED13L):c.626-10C>A
|
rs776407123
|
0.00003
|
NM_015335.5(MED13L):c.626-4A>G
|
rs768048151
|
0.00003
|
NM_015335.5(MED13L):c.6580G>A (p.Val2194Ile)
|
rs377611234
|
0.00003
|
NM_015335.5(MED13L):c.672A>T (p.Ala224=)
|
rs756122556
|
0.00003
|
NM_015335.5(MED13L):c.72+10C>T
|
rs779448093
|
0.00003
|
NM_021005.4(NR2F2):c.843C>T (p.Ser281=)
|
rs1006491294
|
0.00003
|
NM_022114.4(PRDM16):c.1032+15G>A
|
rs757603329
|
0.00003
|
NM_022114.4(PRDM16):c.1041G>A (p.Thr347=)
|
rs1200718124
|
0.00003
|
NM_022114.4(PRDM16):c.1080C>T (p.His360=)
|
rs761160322
|
0.00003
|
NM_022114.4(PRDM16):c.1762G>A (p.Val588Met)
|
rs768733228
|
0.00003
|
NM_022114.4(PRDM16):c.1954G>A (p.Gly652Ser)
|
rs376706452
|
0.00003
|
NM_022114.4(PRDM16):c.1962G>A (p.Ala654=)
|
rs376206605
|
0.00003
|
NM_022114.4(PRDM16):c.1984G>A (p.Val662Met)
|
rs1016599754
|
0.00003
|
NM_022114.4(PRDM16):c.2049G>A (p.Leu683=)
|
rs374601479
|
0.00003
|
NM_022114.4(PRDM16):c.204C>T (p.Tyr68=)
|
rs930898977
|
0.00003
|
NM_022114.4(PRDM16):c.2056A>G (p.Thr686Ala)
|
rs575376153
|
0.00003
|
NM_022114.4(PRDM16):c.205G>A (p.Glu69Lys)
|
rs779756897
|
0.00003
|
NM_022114.4(PRDM16):c.2209C>T (p.Leu737Phe)
|
rs764703147
|
0.00003
|
NM_022114.4(PRDM16):c.2259C>T (p.Ala753=)
|
rs548246861
|
0.00003
|
NM_022114.4(PRDM16):c.2260G>A (p.Glu754Lys)
|
rs369599647
|
0.00003
|
NM_022114.4(PRDM16):c.2458C>T (p.Arg820Trp)
|
rs748390268
|
0.00003
|
NM_022114.4(PRDM16):c.264G>T (p.Glu88Asp)
|
rs945163627
|
0.00003
|
NM_022114.4(PRDM16):c.2663G>A (p.Arg888Gln)
|
rs201119848
|
0.00003
|
NM_022114.4(PRDM16):c.2934G>A (p.Pro978=)
|
rs372850015
|
0.00003
|
NM_022114.4(PRDM16):c.306G>A (p.Arg102=)
|
rs1312935714
|
0.00003
|
NM_022114.4(PRDM16):c.3109+11C>T
|
rs757749746
|
0.00003
|
NM_022114.4(PRDM16):c.3110-5C>T
|
rs377426436
|
0.00003
|
NM_022114.4(PRDM16):c.3124G>A (p.Gly1042Arg)
|
rs768620911
|
0.00003
|
NM_022114.4(PRDM16):c.3144G>T (p.Leu1048=)
|
rs193241720
|
0.00003
|
NM_022114.4(PRDM16):c.318C>T (p.Ala106=)
|
rs749938760
|
0.00003
|
NM_022114.4(PRDM16):c.3211T>A (p.Ser1071Thr)
|
rs561896892
|
0.00003
|
NM_022114.4(PRDM16):c.3357G>C (p.Glu1119Asp)
|
rs756442796
|
0.00003
|
NM_022114.4(PRDM16):c.3385G>T (p.Asp1129Tyr)
|
rs776279865
|
0.00003
|
NM_022114.4(PRDM16):c.340G>A (p.Val114Met)
|
rs749076034
|
0.00003
|
NM_022114.4(PRDM16):c.3492C>T (p.Ser1164=)
|
rs1023870233
|
0.00003
|
NM_022114.4(PRDM16):c.353G>A (p.Arg118Gln)
|
rs538278091
|
0.00003
|
NM_022114.4(PRDM16):c.3697-5G>A
|
rs757211426
|
0.00003
|
NM_022114.4(PRDM16):c.388C>G (p.Gln130Glu)
|
rs898082337
|
0.00003
|
NM_022114.4(PRDM16):c.413C>T (p.Ser138Leu)
|
rs552668116
|
0.00003
|
NM_022114.4(PRDM16):c.439-1G>C
|
rs891879209
|
0.00003
|
NM_022114.4(PRDM16):c.625C>T (p.His209Tyr)
|
rs533353039
|
0.00003
|
NM_022114.4(PRDM16):c.640G>A (p.Val214Ile)
|
rs754256903
|
0.00003
|
NM_022114.4(PRDM16):c.687G>A (p.Thr229=)
|
rs773103874
|
0.00003
|
NM_022114.4(PRDM16):c.746A>G (p.Lys249Arg)
|
rs541077599
|
0.00003
|
NM_022114.4(PRDM16):c.756G>A (p.Thr252=)
|
rs775660693
|
0.00003
|
NM_022114.4(PRDM16):c.776C>T (p.Ala259Val)
|
rs769041652
|
0.00003
|
NM_022114.4(PRDM16):c.843C>T (p.His281=)
|
rs201199516
|
0.00003
|
NM_022114.4(PRDM16):c.872C>T (p.Pro291Leu)
|
rs397514744
|
0.00003
|
NM_022114.4(PRDM16):c.912G>A (p.Thr304=)
|
rs371323418
|
0.00003
|
NM_033337.3(CAV3):c.100G>A (p.Glu34Lys)
|
rs199476325
|
0.00003
|
NM_033337.3(CAV3):c.135C>T (p.Ile45=)
|
rs115593543
|
0.00003
|
NM_033337.3(CAV3):c.305C>T (p.Ala102Val)
|
rs868638613
|
0.00003
|
NM_033337.3(CAV3):c.376C>T (p.Arg126Cys)
|
rs776563500
|
0.00003
|
NM_033337.3(CAV3):c.433G>A (p.Val145Met)
|
rs142475018
|
0.00003
|
NM_033337.3(CAV3):c.449A>T (p.Glu150Val)
|
rs730880423
|
0.00003
|
NM_145020.5(CFAP53):c.1357A>G (p.Met453Val)
|
rs202208883
|
0.00003
|
NM_145020.5(CFAP53):c.1514G>T (p.Arg505Leu)
|
rs766960984
|
0.00003
|
NM_145054.5(CFAP52):c.531T>A (p.Ala177=)
|
rs771541433
|
0.00003
|
NM_145054.5(CFAP52):c.536+1G>T
|
rs746987839
|
0.00003
|
NM_145054.5(CFAP52):c.873C>T (p.Gly291=)
|
rs762482958
|
0.00003
|
NM_172201.2(KCNE2):c.347C>T (p.Ala116Val)
|
rs199473367
|
0.00003
|
NM_172201.2(KCNE2):c.75T>C (p.Asn25=)
|
rs372013275
|
0.00003
|
NM_174934.4(SCN4B):c.372C>T (p.Ser124=)
|
rs1208629284
|
0.00003
|
NM_174934.4(SCN4B):c.482C>G (p.Thr161Arg)
|
rs750329453
|
0.00003
|
NM_174934.4(SCN4B):c.62-13G>A
|
rs747651845
|
0.00003
|
NM_000218.3(KCNQ1):c.1128+5G>A
|
rs76735093
|
0.00002
|
NM_000218.3(KCNQ1):c.1239del (p.Lys414fs)
|
rs778786253
|
0.00002
|
NM_000218.3(KCNQ1):c.1252-15T>C
|
rs367880913
|
0.00002
|
NM_000218.3(KCNQ1):c.1252G>A (p.Val418Ile)
|
rs777347006
|
0.00002
|
NM_000218.3(KCNQ1):c.1321C>T (p.Pro441Ser)
|
rs199473475
|
0.00002
|
NM_000218.3(KCNQ1):c.1386C>T (p.Asp462=)
|
rs749631604
|
0.00002
|
NM_000218.3(KCNQ1):c.1591-4G>A
|
rs555518358
|
0.00002
|
NM_000218.3(KCNQ1):c.1621G>A (p.Val541Ile)
|
rs199472796
|
0.00002
|
NM_000218.3(KCNQ1):c.1685+8C>T
|
rs768101676
|
0.00002
|
NM_000218.3(KCNQ1):c.1725C>T (p.Ser575=)
|
rs199561157
|
0.00002
|
NM_000218.3(KCNQ1):c.1726G>A (p.Val576Ile)
|
rs750409379
|
0.00002
|
NM_000218.3(KCNQ1):c.1747C>T (p.Arg583Cys)
|
rs17221854
|
0.00002
|
NM_000218.3(KCNQ1):c.1768G>A (p.Ala590Thr)
|
rs199472813
|
0.00002
|
NM_000218.3(KCNQ1):c.1794+10C>T
|
rs558507741
|
0.00002
|
NM_000218.3(KCNQ1):c.1794+16G>A
|
rs199660137
|
0.00002
|
NM_000218.3(KCNQ1):c.1795-10G>A
|
rs780067234
|
0.00002
|
NM_000218.3(KCNQ1):c.1827C>T (p.Ile609=)
|
rs377553748
|
0.00002
|
NM_000218.3(KCNQ1):c.187C>T (p.Pro63Ser)
|
rs1280717988
|
0.00002
|
NM_000218.3(KCNQ1):c.1892C>G (p.Pro631Arg)
|
rs1432436411
|
0.00002
|
NM_000218.3(KCNQ1):c.1935C>T (p.Gly645=)
|
rs753256738
|
0.00002
|
NM_000218.3(KCNQ1):c.2020G>A (p.Glu674Lys)
|
rs762122463
|
0.00002
|
NM_000218.3(KCNQ1):c.274T>C (p.Ser92Pro)
|
rs764455359
|
0.00002
|
NM_000218.3(KCNQ1):c.345G>A (p.Glu115=)
|
rs758960211
|
0.00002
|
NM_000218.3(KCNQ1):c.386+9C>A
|
rs766453921
|
0.00002
|
NM_000218.3(KCNQ1):c.387-9G>C
|
rs751000500
|
0.00002
|
NM_000218.3(KCNQ1):c.417C>T (p.Phe139=)
|
rs149143353
|
0.00002
|
NM_000218.3(KCNQ1):c.448G>A (p.Ala150Thr)
|
rs794728577
|
0.00002
|
NM_000218.3(KCNQ1):c.507G>A (p.Thr169=)
|
rs375845797
|
0.00002
|
NM_000218.3(KCNQ1):c.525C>T (p.Leu175=)
|
rs751902200
|
0.00002
|
NM_000218.3(KCNQ1):c.553G>A (p.Val185Met)
|
rs749351255
|
0.00002
|
NM_000218.3(KCNQ1):c.569G>A (p.Arg190Gln)
|
rs120074178
|
0.00002
|
NM_000218.3(KCNQ1):c.590C>T (p.Pro197Leu)
|
rs200108320
|
0.00002
|
NM_000218.3(KCNQ1):c.604+9T>C
|
rs758164749
|
0.00002
|
NM_000218.3(KCNQ1):c.642C>T (p.Cys214=)
|
rs775479779
|
0.00002
|
NM_000218.3(KCNQ1):c.678C>G (p.Ala226=)
|
rs771489129
|
0.00002
|
NM_000218.3(KCNQ1):c.877C>T (p.Arg293Cys)
|
rs199472737
|
0.00002
|
NM_000218.3(KCNQ1):c.878G>A (p.Arg293His)
|
rs199473465
|
0.00002
|
NM_000218.3(KCNQ1):c.898G>A (p.Ala300Thr)
|
rs120074187
|
0.00002
|
NM_000218.3(KCNQ1):c.921+13C>T
|
rs576305241
|
0.00002
|
NM_000218.3(KCNQ1):c.948G>C (p.Gly316=)
|
rs727505231
|
0.00002
|
NM_000219.6(KCNE1):c.117C>T (p.Asp39=)
|
rs368465967
|
0.00002
|
NM_000219.6(KCNE1):c.142C>T (p.Leu48Phe)
|
rs75610894
|
0.00002
|
NM_000219.6(KCNE1):c.174C>G (p.Thr58=)
|
rs727503101
|
0.00002
|
NM_000219.6(KCNE1):c.220T>C (p.Ser74Pro)
|
rs199473357
|
0.00002
|
NM_000219.6(KCNE1):c.236A>G (p.Asn79Ser)
|
rs1422163809
|
0.00002
|
NM_000219.6(KCNE1):c.273C>G (p.Asp91Glu)
|
rs146614850
|
0.00002
|
NM_000219.6(KCNE1):c.298C>T (p.Leu100=)
|
rs140643047
|
0.00002
|
NM_000219.6(KCNE1):c.312G>A (p.Arg104=)
|
rs746628151
|
0.00002
|
NM_000219.6(KCNE1):c.314C>T (p.Ser105Leu)
|
rs780041404
|
0.00002
|
NM_000219.6(KCNE1):c.375G>A (p.Thr125=)
|
rs767686634
|
0.00002
|
NM_000219.6(KCNE1):c.4A>T (p.Ile2Phe)
|
rs756727116
|
0.00002
|
NM_000219.6(KCNE1):c.80T>C (p.Met27Thr)
|
rs749957298
|
0.00002
|
NM_000219.6(KCNE1):c.9G>A (p.Leu3=)
|
rs868666103
|
0.00002
|
NM_000238.4(KCNH2):c.1128+6C>T
|
rs746127862
|
0.00002
|
NM_000238.4(KCNH2):c.1149C>T (p.Asp383=)
|
rs201995634
|
0.00002
|
NM_000238.4(KCNH2):c.1158T>C (p.Pro386=)
|
rs749161732
|
0.00002
|
NM_000238.4(KCNH2):c.1189C>T (p.Arg397Cys)
|
rs1060500663
|
0.00002
|
NM_000238.4(KCNH2):c.120C>T (p.Ala40=)
|
rs146715185
|
0.00002
|
NM_000238.4(KCNH2):c.1374C>T (p.Ile458=)
|
rs764322241
|
0.00002
|
NM_000238.4(KCNH2):c.1425C>T (p.Tyr475=)
|
rs760584131
|
0.00002
|
NM_000238.4(KCNH2):c.1459G>A (p.Gly487Ser)
|
rs562875924
|
0.00002
|
NM_000238.4(KCNH2):c.1462C>T (p.Arg488Cys)
|
rs281865155
|
0.00002
|
NM_000238.4(KCNH2):c.1551T>C (p.Ser517=)
|
rs770283713
|
0.00002
|
NM_000238.4(KCNH2):c.1558-6C>T
|
rs777107971
|
0.00002
|
NM_000238.4(KCNH2):c.1572G>A (p.Leu524=)
|
rs372089646
|
0.00002
|
NM_000238.4(KCNH2):c.1602C>T (p.Arg534=)
|
rs369102529
|
0.00002
|
NM_000238.4(KCNH2):c.1742C>T (p.Ser581Leu)
|
rs794728483
|
0.00002
|
NM_000238.4(KCNH2):c.2146-14C>A
|
rs971275958
|
0.00002
|
NM_000238.4(KCNH2):c.2190G>A (p.Leu730=)
|
rs1401248493
|
0.00002
|
NM_000238.4(KCNH2):c.2193C>T (p.His731=)
|
rs755252767
|
0.00002
|
NM_000238.4(KCNH2):c.2238C>G (p.Ala746=)
|
rs765110115
|
0.00002
|
NM_000238.4(KCNH2):c.2331C>T (p.Thr777=)
|
rs41307292
|
0.00002
|
NM_000238.4(KCNH2):c.2383G>A (p.Val795Ile)
|
rs1002588450
|
0.00002
|
NM_000238.4(KCNH2):c.2475C>T (p.Leu825=)
|
rs149367419
|
0.00002
|
NM_000238.4(KCNH2):c.249G>A (p.Ala83=)
|
rs963871771
|
0.00002
|
NM_000238.4(KCNH2):c.2504G>A (p.Arg835Gln)
|
rs794728395
|
0.00002
|
NM_000238.4(KCNH2):c.2641T>A (p.Phe881Ile)
|
rs1197425750
|
0.00002
|
NM_000238.4(KCNH2):c.2648G>A (p.Arg883Gln)
|
rs748821862
|
0.00002
|
NM_000238.4(KCNH2):c.2693-6C>T
|
rs1469748213
|
0.00002
|
NM_000238.4(KCNH2):c.2751G>A (p.Pro917=)
|
rs1404614771
|
0.00002
|
NM_000238.4(KCNH2):c.2759G>A (p.Arg920Gln)
|
rs199473670
|
0.00002
|
NM_000238.4(KCNH2):c.2777C>T (p.Pro926Leu)
|
rs996063617
|
0.00002
|
NM_000238.4(KCNH2):c.2887C>A (p.Pro963Thr)
|
rs199473014
|
0.00002
|
NM_000238.4(KCNH2):c.2903C>T (p.Pro968Leu)
|
rs199473017
|
0.00002
|
NM_000238.4(KCNH2):c.2965+7C>T
|
rs754828103
|
0.00002
|
NM_000238.4(KCNH2):c.2965+8G>A
|
rs749079285
|
0.00002
|
NM_000238.4(KCNH2):c.2967C>T (p.Gly989=)
|
rs759887868
|
0.00002
|
NM_000238.4(KCNH2):c.3007G>A (p.Asp1003Asn)
|
rs794728402
|
0.00002
|
NM_000238.4(KCNH2):c.3020G>A (p.Arg1007His)
|
rs199473542
|
0.00002
|
NM_000238.4(KCNH2):c.3049G>T (p.Ala1017Ser)
|
rs950543448
|
0.00002
|
NM_000238.4(KCNH2):c.3052C>G (p.Pro1018Ala)
|
rs41313764
|
0.00002
|
NM_000238.4(KCNH2):c.306T>C (p.Asp102=)
|
rs1005025657
|
0.00002
|
NM_000238.4(KCNH2):c.3075C>T (p.Ile1025=)
|
rs76547432
|
0.00002
|
NM_000238.4(KCNH2):c.3098G>A (p.Arg1033Gln)
|
rs750858069
|
0.00002
|
NM_000238.4(KCNH2):c.3103C>T (p.Arg1035Trp)
|
rs199473543
|
0.00002
|
NM_000238.4(KCNH2):c.3104G>A (p.Arg1035Gln)
|
rs761933920
|
0.00002
|
NM_000238.4(KCNH2):c.3139C>T (p.Arg1047Cys)
|
rs377095107
|
0.00002
|
NM_000238.4(KCNH2):c.3153-10C>A
|
rs781609392
|
0.00002
|
NM_000238.4(KCNH2):c.3153-6C>T
|
rs970093127
|
0.00002
|
NM_000238.4(KCNH2):c.3233A>G (p.Tyr1078Cys)
|
rs199473029
|
0.00002
|
NM_000238.4(KCNH2):c.3252G>A (p.Pro1084=)
|
rs753375396
|
0.00002
|
NM_000238.4(KCNH2):c.3255G>T (p.Gly1085=)
|
rs1005325992
|
0.00002
|
NM_000238.4(KCNH2):c.3289G>A (p.Val1097Ile)
|
rs199473030
|
0.00002
|
NM_000238.4(KCNH2):c.3457C>T (p.His1153Tyr)
|
rs199473035
|
0.00002
|
NM_000238.4(KCNH2):c.3464C>T (p.Ser1155Leu)
|
rs867402580
|
0.00002
|
NM_000238.4(KCNH2):c.351C>T (p.Asn117=)
|
rs757132095
|
0.00002
|
NM_000238.4(KCNH2):c.398T>C (p.Met133Thr)
|
rs794728353
|
0.00002
|
NM_000238.4(KCNH2):c.39C>T (p.Thr13=)
|
rs776189512
|
0.00002
|
NM_000238.4(KCNH2):c.447C>T (p.Gly149=)
|
rs1004321690
|
0.00002
|
NM_000238.4(KCNH2):c.524C>A (p.Ala175Asp)
|
rs776541110
|
0.00002
|
NM_000238.4(KCNH2):c.580G>A (p.Val194Met)
|
rs1293129095
|
0.00002
|
NM_000238.4(KCNH2):c.656A>T (p.Asp219Val)
|
rs587777907
|
0.00002
|
NM_000238.4(KCNH2):c.729C>G (p.Ser243Arg)
|
rs863224337
|
0.00002
|
NM_000238.4(KCNH2):c.755G>A (p.Arg252Gln)
|
rs730880117
|
0.00002
|
NM_000238.4(KCNH2):c.76+18C>T
|
rs749396597
|
0.00002
|
NM_000238.4(KCNH2):c.817C>A (p.Arg273=)
|
rs552583527
|
0.00002
|
NM_000238.4(KCNH2):c.875G>A (p.Arg292His)
|
rs1355952300
|
0.00002
|
NM_000238.4(KCNH2):c.917-8C>G
|
rs41313086
|
0.00002
|
NM_000238.4(KCNH2):c.939C>T (p.Ser313=)
|
rs778439539
|
0.00002
|
NM_000238.4(KCNH2):c.967G>A (p.Asp323Asn)
|
rs199472887
|
0.00002
|
NM_000238.4(KCNH2):c.983G>A (p.Arg328His)
|
rs747437736
|
0.00002
|
NM_000719.7(CACNA1C):c.1053C>T (p.Phe351=)
|
rs182805644
|
0.00002
|
NM_000719.7(CACNA1C):c.1125C>T (p.Ala375=)
|
rs1131652
|
0.00002
|
NM_000719.7(CACNA1C):c.1126G>A (p.Val376Ile)
|
rs1131653
|
0.00002
|
NM_000719.7(CACNA1C):c.123G>A (p.Glu41=)
|
rs981806518
|
0.00002
|
NM_000719.7(CACNA1C):c.1342G>A (p.Asp448Asn)
|
rs786205746
|
0.00002
|
NM_000719.7(CACNA1C):c.1558G>A (p.Ala520Thr)
|
rs755167125
|
0.00002
|
NM_000719.7(CACNA1C):c.1669+7G>A
|
rs772951246
|
0.00002
|
NM_000719.7(CACNA1C):c.1689G>C (p.Leu563=)
|
rs372908090
|
0.00002
|
NM_000719.7(CACNA1C):c.1723A>T (p.Met575Leu)
|
rs1157777158
|
0.00002
|
NM_000719.7(CACNA1C):c.1729A>G (p.Ser577Gly)
|
rs772171893
|
0.00002
|
NM_000719.7(CACNA1C):c.1785C>T (p.Val595=)
|
rs755436625
|
0.00002
|
NM_000719.7(CACNA1C):c.1895+20A>G
|
rs757376156
|
0.00002
|
NM_000719.7(CACNA1C):c.1968T>A (p.Leu656=)
|
rs375950982
|
0.00002
|
NM_000719.7(CACNA1C):c.2224+20C>A
|
rs777194958
|
0.00002
|
NM_000719.7(CACNA1C):c.2225-15A>G
|
rs774706225
|
0.00002
|
NM_000719.7(CACNA1C):c.2325A>G (p.Arg775=)
|
rs1280678164
|
0.00002
|
NM_000719.7(CACNA1C):c.2339+20C>A
|
rs201164691
|
0.00002
|
NM_000719.7(CACNA1C):c.2382G>A (p.Pro794=)
|
rs371978680
|
0.00002
|
NM_000719.7(CACNA1C):c.2437G>A (p.Gly813Arg)
|
rs545511851
|
0.00002
|
NM_000719.7(CACNA1C):c.2438G>A (p.Gly813Glu)
|
rs1568590011
|
0.00002
|
NM_000719.7(CACNA1C):c.2550G>C (p.Glu850Asp)
|
rs767204844
|
0.00002
|
NM_000719.7(CACNA1C):c.2634C>T (p.Ser878=)
|
rs752800134
|
0.00002
|
NM_000719.7(CACNA1C):c.2664G>A (p.Arg888=)
|
rs754046062
|
0.00002
|
NM_000719.7(CACNA1C):c.2795T>C (p.Ile932Thr)
|
rs786205756
|
0.00002
|
NM_000719.7(CACNA1C):c.2824A>G (p.Thr942Ala)
|
rs369884505
|
0.00002
|
NM_000719.7(CACNA1C):c.2853+11C>T
|
rs1319241844
|
0.00002
|
NM_000719.7(CACNA1C):c.2853+9C>G
|
rs774649223
|
0.00002
|
NM_000719.7(CACNA1C):c.3072C>T (p.Val1024=)
|
rs566310000
|
0.00002
|
NM_000719.7(CACNA1C):c.3138C>T (p.Ile1046=)
|
rs373517122
|
0.00002
|
NM_000719.7(CACNA1C):c.3156+6G>C
|
rs398123520
|
0.00002
|
NM_000719.7(CACNA1C):c.3237G>A (p.Gly1079=)
|
rs534453109
|
0.00002
|
NM_000719.7(CACNA1C):c.3285G>A (p.Lys1095=)
|
rs900491834
|
0.00002
|
NM_000719.7(CACNA1C):c.3367C>T (p.Arg1123Cys)
|
rs1057518445
|
0.00002
|
NM_000719.7(CACNA1C):c.3424A>C (p.Ile1142Leu)
|
rs752247655
|
0.00002
|
NM_000719.7(CACNA1C):c.3483C>T (p.Phe1161=)
|
rs367790910
|
0.00002
|
NM_000719.7(CACNA1C):c.3654C>T (p.Ser1218=)
|
rs776884902
|
0.00002
|
NM_000719.7(CACNA1C):c.372-9C>G
|
rs367763190
|
0.00002
|
NM_000719.7(CACNA1C):c.3732C>T (p.Ser1244=)
|
rs760173547
|
0.00002
|
NM_000719.7(CACNA1C):c.3748G>A (p.Ala1250Thr)
|
rs373930708
|
0.00002
|
NM_000719.7(CACNA1C):c.3789C>A (p.Thr1263=)
|
rs765393806
|
0.00002
|
NM_000719.7(CACNA1C):c.3912+14G>A
|
rs372728453
|
0.00002
|
NM_000719.7(CACNA1C):c.3912C>T (p.Asn1304=)
|
rs1221384071
|
0.00002
|
NM_000719.7(CACNA1C):c.3930A>G (p.Gln1310=)
|
rs369262825
|
0.00002
|
NM_000719.7(CACNA1C):c.4074+19C>T
|
rs779341594
|
0.00002
|
NM_000719.7(CACNA1C):c.408C>T (p.Ala136=)
|
rs769295096
|
0.00002
|
NM_000719.7(CACNA1C):c.4242C>T (p.Thr1414=)
|
rs773062528
|
0.00002
|
NM_000719.7(CACNA1C):c.4578G>A (p.Pro1526=)
|
rs376555924
|
0.00002
|
NM_000719.7(CACNA1C):c.460G>A (p.Ala154Thr)
|
rs1064796583
|
0.00002
|
NM_000719.7(CACNA1C):c.4726+3A>G
|
rs982682310
|
0.00002
|
NM_000719.7(CACNA1C):c.4956+5G>C
|
rs758948589
|
0.00002
|
NM_000719.7(CACNA1C):c.5065G>A (p.Ala1689Thr)
|
rs368700869
|
0.00002
|
NM_000719.7(CACNA1C):c.512C>T (p.Thr171Met)
|
rs199586997
|
0.00002
|
NM_000719.7(CACNA1C):c.513G>A (p.Thr171=)
|
rs769915094
|
0.00002
|
NM_000719.7(CACNA1C):c.5148C>T (p.Ser1716=)
|
rs371262001
|
0.00002
|
NM_000719.7(CACNA1C):c.5198C>T (p.Ala1733Val)
|
rs201049603
|
0.00002
|
NM_000719.7(CACNA1C):c.5215G>A (p.Asp1739Asn)
|
rs769917254
|
0.00002
|
NM_000719.7(CACNA1C):c.5217C>T (p.Asp1739=)
|
rs864622139
|
0.00002
|
NM_000719.7(CACNA1C):c.5236G>A (p.Glu1746Lys)
|
rs759468937
|
0.00002
|
NM_000719.7(CACNA1C):c.5283C>T (p.Thr1761=)
|
rs747358417
|
0.00002
|
NM_000719.7(CACNA1C):c.5329C>T (p.Arg1777Cys)
|
rs775251529
|
0.00002
|
NM_000719.7(CACNA1C):c.5331C>T (p.Arg1777=)
|
rs587780880
|
0.00002
|
NM_000719.7(CACNA1C):c.5398C>T (p.Pro1800Ser)
|
rs921032597
|
0.00002
|
NM_000719.7(CACNA1C):c.5404A>G (p.Ile1802Val)
|
rs370471203
|
0.00002
|
NM_000719.7(CACNA1C):c.5445-17dup
|
rs752372266
|
0.00002
|
NM_000719.7(CACNA1C):c.5456G>A (p.Arg1819Gln)
|
rs764212214
|
0.00002
|
NM_000719.7(CACNA1C):c.5460G>C (p.Glu1820Asp)
|
rs776928313
|
0.00002
|
NM_000719.7(CACNA1C):c.54C>T (p.Ser18=)
|
rs2083379050
|
0.00002
|
NM_000719.7(CACNA1C):c.5557C>G (p.Leu1853Val)
|
rs879206313
|
0.00002
|
NM_000719.7(CACNA1C):c.5576T>C (p.Leu1859Pro)
|
rs566778414
|
0.00002
|
NM_000719.7(CACNA1C):c.5684G>A (p.Arg1895Gln)
|
rs753954220
|
0.00002
|
NM_000719.7(CACNA1C):c.5688G>A (p.Arg1896=)
|
rs757426840
|
0.00002
|
NM_000719.7(CACNA1C):c.5693C>T (p.Ser1898Phe)
|
rs1312835338
|
0.00002
|
NM_000719.7(CACNA1C):c.580G>A (p.Gly194Ser)
|
rs753418562
|
0.00002
|
NM_000719.7(CACNA1C):c.5906T>C (p.Val1969Ala)
|
rs1298514198
|
0.00002
|
NM_000719.7(CACNA1C):c.5920C>T (p.Leu1974Phe)
|
rs767660098
|
0.00002
|
NM_000719.7(CACNA1C):c.594A>G (p.Leu198=)
|
rs778711543
|
0.00002
|
NM_000719.7(CACNA1C):c.5957G>A (p.Ser1986Asn)
|
rs755280013
|
0.00002
|
NM_000719.7(CACNA1C):c.5996C>T (p.Thr1999Ile)
|
rs532551057
|
0.00002
|
NM_000719.7(CACNA1C):c.6111G>A (p.Val2037=)
|
rs758922114
|
0.00002
|
NM_000719.7(CACNA1C):c.6234C>T (p.Ala2078=)
|
rs774966357
|
0.00002
|
NM_000719.7(CACNA1C):c.6282C>G (p.Leu2094=)
|
rs1337662531
|
0.00002
|
NM_000719.7(CACNA1C):c.666C>T (p.Asn222=)
|
rs527741368
|
0.00002
|
NM_000719.7(CACNA1C):c.705G>A (p.Ala235=)
|
rs775314673
|
0.00002
|
NM_000719.7(CACNA1C):c.70C>T (p.Arg24Cys)
|
rs773211348
|
0.00002
|
NM_000719.7(CACNA1C):c.71G>A (p.Arg24His)
|
rs200941579
|
0.00002
|
NM_000719.7(CACNA1C):c.758-7C>T
|
rs892807484
|
0.00002
|
NM_000719.7(CACNA1C):c.810C>T (p.His270=)
|
rs780247399
|
0.00002
|
NM_000719.7(CACNA1C):c.813C>T (p.Ile271=)
|
rs747169285
|
0.00002
|
NM_000719.7(CACNA1C):c.864G>A (p.Glu288=)
|
rs749309131
|
0.00002
|
NM_000719.7(CACNA1C):c.92A>G (p.Asn31Ser)
|
rs1367895262
|
0.00002
|
NM_000719.7(CACNA1C):c.989C>T (p.Thr330Met)
|
rs377345545
|
0.00002
|
NM_000890.5(KCNJ5):c.10G>A (p.Asp4Asn)
|
rs529755922
|
0.00002
|
NM_000890.5(KCNJ5):c.1190A>G (p.Glu397Gly)
|
rs780934792
|
0.00002
|
NM_000890.5(KCNJ5):c.1220A>G (p.Lys407Arg)
|
rs745968243
|
0.00002
|
NM_000890.5(KCNJ5):c.148C>T (p.Arg50Cys)
|
rs781011854
|
0.00002
|
NM_000890.5(KCNJ5):c.155G>A (p.Arg52His)
|
rs144062083
|
0.00002
|
NM_000890.5(KCNJ5):c.260G>A (p.Arg87His)
|
rs747951700
|
0.00002
|
NM_000890.5(KCNJ5):c.274G>A (p.Val92Ile)
|
rs749202931
|
0.00002
|
NM_000890.5(KCNJ5):c.430A>G (p.Ile144Val)
|
rs369703183
|
0.00002
|
NM_000890.5(KCNJ5):c.447C>T (p.Thr149=)
|
rs140491115
|
0.00002
|
NM_000890.5(KCNJ5):c.449T>C (p.Ile150Thr)
|
rs1232257803
|
0.00002
|
NM_000890.5(KCNJ5):c.475G>T (p.Glu159Ter)
|
rs763940447
|
0.00002
|
NM_000890.5(KCNJ5):c.492G>T (p.Gly164=)
|
rs540291475
|
0.00002
|
NM_000890.5(KCNJ5):c.497T>C (p.Ile166Thr)
|
rs908209122
|
0.00002
|
NM_000890.5(KCNJ5):c.687C>T (p.Ile229=)
|
rs149327599
|
0.00002
|
NM_000891.3(KCNJ2):c.1002G>A (p.Lys334=)
|
rs372264881
|
0.00002
|
NM_000891.3(KCNJ2):c.1165G>A (p.Asp389Asn)
|
rs140053197
|
0.00002
|
NM_000891.3(KCNJ2):c.128G>A (p.Cys43Tyr)
|
rs774424161
|
0.00002
|
NM_000891.3(KCNJ2):c.236T>C (p.Ile79Thr)
|
rs786205813
|
0.00002
|
NM_000891.3(KCNJ2):c.282G>A (p.Leu94=)
|
rs776798798
|
0.00002
|
NM_000891.3(KCNJ2):c.411T>C (p.Ile137=)
|
rs775567368
|
0.00002
|
NM_000891.3(KCNJ2):c.531C>T (p.Gly177=)
|
rs544384907
|
0.00002
|
NM_000891.3(KCNJ2):c.858C>T (p.Asp286=)
|
rs142750807
|
0.00002
|
NM_000891.3(KCNJ2):c.882C>T (p.Ile294=)
|
rs751279819
|
0.00002
|
NM_001148.6(ANK2):c.10097C>A (p.Thr3366Asn)
|
rs560594488
|
0.00002
|
NM_001148.6(ANK2):c.10118C>T (p.Ala3373Val)
|
rs371358639
|
0.00002
|
NM_001148.6(ANK2):c.1020C>T (p.Ala340=)
|
rs757576841
|
0.00002
|
NM_001148.6(ANK2):c.10231A>T (p.Thr3411Ser)
|
rs1192955452
|
0.00002
|
NM_001148.6(ANK2):c.1043T>C (p.Val348Ala)
|
rs758931317
|
0.00002
|
NM_001148.6(ANK2):c.10525A>G (p.Ser3509Gly)
|
rs776473130
|
0.00002
|
NM_001148.6(ANK2):c.10646G>A (p.Arg3549His)
|
rs768351547
|
0.00002
|
NM_001148.6(ANK2):c.10882G>T (p.Ala3628Ser)
|
rs765610365
|
0.00002
|
NM_001148.6(ANK2):c.10900G>A (p.Val3634Ile)
|
rs143228029
|
0.00002
|
NM_001148.6(ANK2):c.11039C>T (p.Ser3680Leu)
|
rs761223564
|
0.00002
|
NM_001148.6(ANK2):c.11134G>A (p.Val3712Ile)
|
rs146476345
|
0.00002
|
NM_001148.6(ANK2):c.11182G>A (p.Val3728Ile)
|
rs773907372
|
0.00002
|
NM_001148.6(ANK2):c.11225C>T (p.Pro3742Leu)
|
rs753748906
|
0.00002
|
NM_001148.6(ANK2):c.11326A>G (p.Thr3776Ala)
|
rs746620876
|
0.00002
|
NM_001148.6(ANK2):c.11573C>T (p.Thr3858Ile)
|
rs151338825
|
0.00002
|
NM_001148.6(ANK2):c.11652A>G (p.Glu3884=)
|
rs752145926
|
0.00002
|
NM_001148.6(ANK2):c.11685G>A (p.Val3895=)
|
rs747044770
|
0.00002
|
NM_001148.6(ANK2):c.11717G>A (p.Arg3906Gln)
|
rs770001324
|
0.00002
|
NM_001148.6(ANK2):c.11825G>A (p.Arg3942His)
|
rs542400709
|
0.00002
|
NM_001148.6(ANK2):c.11862C>T (p.Asp3954=)
|
rs755240882
|
0.00002
|
NM_001148.6(ANK2):c.1387-8C>T
|
rs748602773
|
0.00002
|
NM_001148.6(ANK2):c.1485+19A>G
|
rs3025731
|
0.00002
|
NM_001148.6(ANK2):c.1564C>T (p.His522Tyr)
|
rs765190989
|
0.00002
|
NM_001148.6(ANK2):c.1579A>G (p.Thr527Ala)
|
rs374707634
|
0.00002
|
NM_001148.6(ANK2):c.157G>T (p.Gly53Trp)
|
rs1328490060
|
0.00002
|
NM_001148.6(ANK2):c.1627G>A (p.Val543Met)
|
rs749734339
|
0.00002
|
NM_001148.6(ANK2):c.1667A>G (p.His556Arg)
|
rs749342854
|
0.00002
|
NM_001148.6(ANK2):c.1680C>T (p.Thr560=)
|
rs752903781
|
0.00002
|
NM_001148.6(ANK2):c.1710A>G (p.Ala570=)
|
rs757515084
|
0.00002
|
NM_001148.6(ANK2):c.1837C>A (p.Leu613Met)
|
rs780091077
|
0.00002
|
NM_001148.6(ANK2):c.2044C>G (p.Leu682Val)
|
rs749503484
|
0.00002
|
NM_001148.6(ANK2):c.2074A>G (p.Thr692Ala)
|
rs761413864
|
0.00002
|
NM_001148.6(ANK2):c.2160T>A (p.Asp720Glu)
|
rs748835902
|
0.00002
|
NM_001148.6(ANK2):c.2266G>A (p.Ala756Thr)
|
rs368809372
|
0.00002
|
NM_001148.6(ANK2):c.2384A>C (p.Asn795Thr)
|
rs769106499
|
0.00002
|
NM_001148.6(ANK2):c.2430C>T (p.Val810=)
|
rs766919590
|
0.00002
|
NM_001148.6(ANK2):c.2479A>G (p.Ile827Val)
|
rs750428090
|
0.00002
|
NM_001148.6(ANK2):c.2549-11A>G
|
rs1481767332
|
0.00002
|
NM_001148.6(ANK2):c.2557A>C (p.Thr853Pro)
|
rs1178600130
|
0.00002
|
NM_001148.6(ANK2):c.2643G>A (p.Leu881=)
|
rs936820651
|
0.00002
|
NM_001148.6(ANK2):c.2713G>A (p.Asp905Asn)
|
rs759275920
|
0.00002
|
NM_001148.6(ANK2):c.2735A>G (p.His912Arg)
|
rs139259028
|
0.00002
|
NM_001148.6(ANK2):c.2761G>A (p.Val921Met)
|
rs777302517
|
0.00002
|
NM_001148.6(ANK2):c.286-18T>C
|
rs760621803
|
0.00002
|
NM_001148.6(ANK2):c.2869G>A (p.Val957Met)
|
rs756861229
|
0.00002
|
NM_001148.6(ANK2):c.2901-13T>C
|
rs45604840
|
0.00002
|
NM_001148.6(ANK2):c.2945G>A (p.Arg982Gln)
|
rs769214999
|
0.00002
|
NM_001148.6(ANK2):c.2969G>A (p.Arg990Gln)
|
rs373261456
|
0.00002
|
NM_001148.6(ANK2):c.297C>T (p.Thr99=)
|
rs587780851
|
0.00002
|
NM_001148.6(ANK2):c.2980C>A (p.Pro994Thr)
|
rs928622061
|
0.00002
|
NM_001148.6(ANK2):c.3067G>A (p.Gly1023Arg)
|
rs151127289
|
0.00002
|
NM_001148.6(ANK2):c.3085C>T (p.Arg1029Cys)
|
rs773701459
|
0.00002
|
NM_001148.6(ANK2):c.312A>G (p.Ala104=)
|
rs140254310
|
0.00002
|
NM_001148.6(ANK2):c.3373G>C (p.Asp1125His)
|
rs1043468981
|
0.00002
|
NM_001148.6(ANK2):c.3577C>T (p.Arg1193Cys)
|
rs148287474
|
0.00002
|
NM_001148.6(ANK2):c.3578G>A (p.Arg1193His)
|
rs761941047
|
0.00002
|
NM_001148.6(ANK2):c.3652C>T (p.Pro1218Ser)
|
rs754740031
|
0.00002
|
NM_001148.6(ANK2):c.3701C>G (p.Thr1234Ser)
|
rs777976430
|
0.00002
|
NM_001148.6(ANK2):c.3927A>G (p.Glu1309=)
|
rs567570285
|
0.00002
|
NM_001148.6(ANK2):c.3949G>A (p.Val1317Ile)
|
rs146261470
|
0.00002
|
NM_001148.6(ANK2):c.4074T>C (p.Leu1358=)
|
rs759582929
|
0.00002
|
NM_001148.6(ANK2):c.4252C>T (p.Arg1418Cys)
|
rs749093363
|
0.00002
|
NM_001148.6(ANK2):c.435T>C (p.Val145=)
|
rs1402032181
|
0.00002
|
NM_001148.6(ANK2):c.4618G>C (p.Ala1540Pro)
|
rs767390750
|
0.00002
|
NM_001148.6(ANK2):c.4777G>T (p.Val1593Phe)
|
rs771802296
|
0.00002
|
NM_001148.6(ANK2):c.4791T>C (p.Asp1597=)
|
rs760330010
|
0.00002
|
NM_001148.6(ANK2):c.4974T>G (p.Val1658=)
|
rs746886469
|
0.00002
|
NM_001148.6(ANK2):c.5249C>T (p.Thr1750Ile)
|
rs1468122749
|
0.00002
|
NM_001148.6(ANK2):c.533C>T (p.Ala178Val)
|
rs901601971
|
0.00002
|
NM_001148.6(ANK2):c.5426C>T (p.Ala1809Val)
|
rs531261130
|
0.00002
|
NM_001148.6(ANK2):c.5515A>C (p.Thr1839Pro)
|
rs763795429
|
0.00002
|
NM_001148.6(ANK2):c.5715G>A (p.Ser1905=)
|
rs143404578
|
0.00002
|
NM_001148.6(ANK2):c.5737C>T (p.Arg1913Cys)
|
rs147547363
|
0.00002
|
NM_001148.6(ANK2):c.5786C>T (p.Ser1929Leu)
|
rs779278730
|
0.00002
|
NM_001148.6(ANK2):c.6100G>A (p.Gly2034Arg)
|
rs764677814
|
0.00002
|
NM_001148.6(ANK2):c.6104C>T (p.Pro2035Leu)
|
rs151268188
|
0.00002
|
NM_001148.6(ANK2):c.6119G>C (p.Arg2040Thr)
|
rs140462708
|
0.00002
|
NM_001148.6(ANK2):c.615C>T (p.Thr205=)
|
rs587780852
|
0.00002
|
NM_001148.6(ANK2):c.6217A>G (p.Ile2073Val)
|
rs749398563
|
0.00002
|
NM_001148.6(ANK2):c.6461G>A (p.Arg2154His)
|
rs752318984
|
0.00002
|
NM_001148.6(ANK2):c.6632C>T (p.Ala2211Val)
|
rs567825537
|
0.00002
|
NM_001148.6(ANK2):c.6747C>A (p.Phe2249Leu)
|
rs2095685965
|
0.00002
|
NM_001148.6(ANK2):c.6797A>G (p.Lys2266Arg)
|
rs768786898
|
0.00002
|
NM_001148.6(ANK2):c.6895G>C (p.Asp2299His)
|
rs537233629
|
0.00002
|
NM_001148.6(ANK2):c.6896A>T (p.Asp2299Val)
|
rs769627306
|
0.00002
|
NM_001148.6(ANK2):c.7060C>T (p.Arg2354Cys)
|
rs752092273
|
0.00002
|
NM_001148.6(ANK2):c.7142C>A (p.Ala2381Asp)
|
rs764841248
|
0.00002
|
NM_001148.6(ANK2):c.7216C>A (p.Pro2406Thr)
|
rs1430842551
|
0.00002
|
NM_001148.6(ANK2):c.7244G>A (p.Ser2415Asn)
|
rs749832637
|
0.00002
|
NM_001148.6(ANK2):c.7283C>T (p.Ser2428Leu)
|
rs772544901
|
0.00002
|
NM_001148.6(ANK2):c.7517G>A (p.Arg2506Gln)
|
rs780131495
|
0.00002
|
NM_001148.6(ANK2):c.7529T>G (p.Leu2510Arg)
|
rs557294831
|
0.00002
|
NM_001148.6(ANK2):c.7575A>G (p.Thr2525=)
|
rs750595595
|
0.00002
|
NM_001148.6(ANK2):c.7577C>T (p.Ser2526Leu)
|
rs762909298
|
0.00002
|
NM_001148.6(ANK2):c.764G>A (p.Arg255Gln)
|
rs764008198
|
0.00002
|
NM_001148.6(ANK2):c.7728C>T (p.Asn2576=)
|
rs374771370
|
0.00002
|
NM_001148.6(ANK2):c.7785C>A (p.Ile2595=)
|
rs780285975
|
0.00002
|
NM_001148.6(ANK2):c.7965G>A (p.Ser2655=)
|
rs745838946
|
0.00002
|
NM_001148.6(ANK2):c.8105A>G (p.Asn2702Ser)
|
rs748404965
|
0.00002
|
NM_001148.6(ANK2):c.8139C>T (p.Val2713=)
|
rs564510599
|
0.00002
|
NM_001148.6(ANK2):c.8182G>A (p.Glu2728Lys)
|
rs756424757
|
0.00002
|
NM_001148.6(ANK2):c.8255C>G (p.Thr2752Ser)
|
rs751253688
|
0.00002
|
NM_001148.6(ANK2):c.84+11G>A
|
rs759736399
|
0.00002
|
NM_001148.6(ANK2):c.8423A>G (p.Tyr2808Cys)
|
rs545512501
|
0.00002
|
NM_001148.6(ANK2):c.8551C>T (p.Pro2851Ser)
|
rs137856530
|
0.00002
|
NM_001148.6(ANK2):c.8595A>C (p.Ile2865=)
|
rs760511790
|
0.00002
|
NM_001148.6(ANK2):c.8643A>G (p.Glu2881=)
|
rs1157740411
|
0.00002
|
NM_001148.6(ANK2):c.8911G>A (p.Val2971Ile)
|
rs752493662
|
0.00002
|
NM_001148.6(ANK2):c.8927C>G (p.Ser2976Cys)
|
rs371343942
|
0.00002
|
NM_001148.6(ANK2):c.8989T>C (p.Ser2997Pro)
|
rs1213001504
|
0.00002
|
NM_001148.6(ANK2):c.9136A>T (p.Ser3046Cys)
|
rs1554567603
|
0.00002
|
NM_001148.6(ANK2):c.9222A>G (p.Gln3074=)
|
rs747032627
|
0.00002
|
NM_001148.6(ANK2):c.9681C>T (p.Thr3227=)
|
rs144466117
|
0.00002
|
NM_001148.6(ANK2):c.9703C>T (p.Pro3235Ser)
|
rs202098889
|
0.00002
|
NM_001148.6(ANK2):c.9842A>G (p.Gln3281Arg)
|
rs1306812632
|
0.00002
|
NM_001148.6(ANK2):c.991-11T>C
|
rs199730008
|
0.00002
|
NM_001148.6(ANK2):c.9990A>C (p.Leu3330=)
|
rs777870973
|
0.00002
|
NM_001167623.2(CACNA1C):c.1203C>T (p.Leu401=)
|
rs766208314
|
0.00002
|
NM_001276345.2(TNNT2):c.110C>G (p.Ala37Gly)
|
rs776406819
|
0.00002
|
NM_001276345.2(TNNT2):c.260C>T (p.Pro87Leu)
|
rs144900708
|
0.00002
|
NM_001276345.2(TNNT2):c.282A>G (p.Arg94=)
|
rs397516453
|
0.00002
|
NM_001276345.2(TNNT2):c.295-13G>A
|
rs764804961
|
0.00002
|
NM_001276345.2(TNNT2):c.341C>T (p.Ala114Val)
|
rs727504245
|
0.00002
|
NM_001276345.2(TNNT2):c.34G>A (p.Glu12Lys)
|
rs760247765
|
0.00002
|
NM_001276345.2(TNNT2):c.391G>A (p.Val131Ile)
|
rs537067344
|
0.00002
|
NM_001276345.2(TNNT2):c.40G>A (p.Glu14Lys)
|
rs772890125
|
0.00002
|
NM_001276345.2(TNNT2):c.519G>A (p.Glu173=)
|
rs928898709
|
0.00002
|
NM_001276345.2(TNNT2):c.544G>T (p.Ala182Ser)
|
rs730881097
|
0.00002
|
NM_001276345.2(TNNT2):c.56C>G (p.Ala19Gly)
|
rs753645200
|
0.00002
|
NM_001276345.2(TNNT2):c.610-15T>A
|
rs950076691
|
0.00002
|
NM_001276345.2(TNNT2):c.63T>G (p.Val21=)
|
rs397516477
|
0.00002
|
NM_001276345.2(TNNT2):c.67+9C>T
|
rs201839711
|
0.00002
|
NM_001276345.2(TNNT2):c.720-6G>A
|
rs113471285
|
0.00002
|
NM_001276345.2(TNNT2):c.84A>G (p.Arg28=)
|
rs370895664
|
0.00002
|
NM_001276345.2(TNNT2):c.98-14C>T
|
rs918945214
|
0.00002
|
NM_001308093.3(GATA4):c.1070G>T (p.Ser357Ile)
|
rs1014543362
|
0.00002
|
NM_001308093.3(GATA4):c.1078G>A (p.Glu360Lys)
|
rs368489876
|
0.00002
|
NM_001308093.3(GATA4):c.1099A>T (p.Thr367Ser)
|
rs771120775
|
0.00002
|
NM_001308093.3(GATA4):c.1136G>T (p.Ser379Ile)
|
rs878854481
|
0.00002
|
NM_001308093.3(GATA4):c.1181G>A (p.Gly394Glu)
|
rs1000341752
|
0.00002
|
NM_001308093.3(GATA4):c.124C>A (p.Pro42Thr)
|
rs980252090
|
0.00002
|
NM_001308093.3(GATA4):c.1262C>A (p.Thr421Asn)
|
rs114839964
|
0.00002
|
NM_001308093.3(GATA4):c.1295T>G (p.Val432Gly)
|
rs114944893
|
0.00002
|
NM_001308093.3(GATA4):c.179G>A (p.Gly60Asp)
|
rs1451316561
|
0.00002
|
NM_001308093.3(GATA4):c.195C>T (p.Gly65=)
|
rs752600136
|
0.00002
|
NM_001308093.3(GATA4):c.298A>G (p.Thr100Ala)
|
rs891667879
|
0.00002
|
NM_001308093.3(GATA4):c.425G>T (p.Gly142Val)
|
rs1188215516
|
0.00002
|
NM_001308093.3(GATA4):c.459C>T (p.Gly153=)
|
rs1178980770
|
0.00002
|
NM_001308093.3(GATA4):c.486C>T (p.Tyr162=)
|
rs1253695712
|
0.00002
|
NM_001308093.3(GATA4):c.488C>G (p.Pro163Arg)
|
rs540578824
|
0.00002
|
NM_001308093.3(GATA4):c.557G>C (p.Ser186Thr)
|
rs763895652
|
0.00002
|
NM_001308093.3(GATA4):c.786+15C>T
|
rs374933423
|
0.00002
|
NM_001308093.3(GATA4):c.861G>A (p.Ala287=)
|
rs757208344
|
0.00002
|
NM_001308093.3(GATA4):c.909C>T (p.His303=)
|
rs201516339
|
0.00002
|
NM_001308093.3(GATA4):c.912+15C>T
|
rs375658877
|
0.00002
|
NM_001308093.3(GATA4):c.912+5G>A
|
rs371005520
|
0.00002
|
NM_001308093.3(GATA4):c.943G>A (p.Gly315Arg)
|
rs377222076
|
0.00002
|
NM_001386795.1(DTNA):c.1002-2338C>T
|
rs201631418
|
0.00002
|
NM_001386795.1(DTNA):c.1291G>A (p.Asp431Asn)
|
rs777304620
|
0.00002
|
NM_001386795.1(DTNA):c.154C>G (p.Leu52Val)
|
rs780815924
|
0.00002
|
NM_001386795.1(DTNA):c.1603G>T (p.Ala535Ser)
|
rs746736894
|
0.00002
|
NM_001386795.1(DTNA):c.172G>T (p.Val58Phe)
|
rs769176953
|
0.00002
|
NM_001386795.1(DTNA):c.1776C>T (p.Pro592=)
|
rs113072494
|
0.00002
|
NM_001386795.1(DTNA):c.177A>G (p.Ile59Met)
|
rs1057518968
|
0.00002
|
NM_001386795.1(DTNA):c.182C>G (p.Ala61Gly)
|
rs767620520
|
0.00002
|
NM_001386795.1(DTNA):c.1851G>A (p.Pro617=)
|
rs756382217
|
0.00002
|
NM_001386795.1(DTNA):c.188G>A (p.Arg63Gln)
|
rs766420415
|
0.00002
|
NM_001386795.1(DTNA):c.1993+11G>T
|
rs540652495
|
0.00002
|
NM_001386795.1(DTNA):c.1993+9C>T
|
rs573243965
|
0.00002
|
NM_001386795.1(DTNA):c.1994-18T>A
|
rs772589214
|
0.00002
|
NM_001386795.1(DTNA):c.2094G>A (p.Ala698=)
|
rs369914309
|
0.00002
|
NM_001386795.1(DTNA):c.2181T>A (p.Asp727Glu)
|
rs564742185
|
0.00002
|
NM_001386795.1(DTNA):c.2227C>T (p.Arg743Trp)
|
rs774768713
|
0.00002
|
NM_001386795.1(DTNA):c.2276T>C (p.Leu759Pro)
|
rs766539608
|
0.00002
|
NM_001386795.1(DTNA):c.298C>T (p.His100Tyr)
|
rs959010180
|
0.00002
|
NM_001386795.1(DTNA):c.354G>A (p.Ala118=)
|
rs748607011
|
0.00002
|
NM_001386795.1(DTNA):c.362+18G>A
|
rs771172339
|
0.00002
|
NM_001386795.1(DTNA):c.362+9C>T
|
rs778158771
|
0.00002
|
NM_001386795.1(DTNA):c.362C>T (p.Pro121Leu)
|
rs104894654
|
0.00002
|
NM_001386795.1(DTNA):c.642G>A (p.Met214Ile)
|
rs745752400
|
0.00002
|
NM_001386795.1(DTNA):c.85C>T (p.Arg29Cys)
|
rs781374642
|
0.00002
|
NM_001386795.1(DTNA):c.869C>T (p.Thr290Met)
|
rs747834756
|
0.00002
|
NM_001743.6(CALM2):c.336C>T (p.Asn112=)
|
rs751334551
|
0.00002
|
NM_001743.6(CALM2):c.420A>G (p.Glu140=)
|
rs201444040
|
0.00002
|
NM_003098.3(SNTA1):c.1106G>A (p.Arg369His)
|
rs1012069434
|
0.00002
|
NM_003098.3(SNTA1):c.1204C>T (p.Arg402Trp)
|
rs373387978
|
0.00002
|
NM_003098.3(SNTA1):c.1205G>A (p.Arg402Gln)
|
rs771369802
|
0.00002
|
NM_003098.3(SNTA1):c.1209C>T (p.Ala403=)
|
rs144821472
|
0.00002
|
NM_003098.3(SNTA1):c.1212C>T (p.Ala404=)
|
rs754521867
|
0.00002
|
NM_003098.3(SNTA1):c.1300T>C (p.Trp434Arg)
|
rs772600822
|
0.00002
|
NM_003098.3(SNTA1):c.1388T>G (p.Leu463Arg)
|
rs188835994
|
0.00002
|
NM_003098.3(SNTA1):c.1440C>T (p.His480=)
|
rs201485963
|
0.00002
|
NM_003098.3(SNTA1):c.1479C>T (p.Phe493=)
|
rs559827815
|
0.00002
|
NM_003098.3(SNTA1):c.25C>T (p.Arg9Cys)
|
rs886039012
|
0.00002
|
NM_003098.3(SNTA1):c.522G>A (p.Pro174=)
|
rs780808390
|
0.00002
|
NM_003098.3(SNTA1):c.620G>A (p.Arg207Gln)
|
rs771180054
|
0.00002
|
NM_003098.3(SNTA1):c.702-7C>G
|
rs780688953
|
0.00002
|
NM_003098.3(SNTA1):c.70G>A (p.Gly24Ser)
|
rs786205847
|
0.00002
|
NM_003098.3(SNTA1):c.905A>G (p.Glu302Gly)
|
rs763371307
|
0.00002
|
NM_003413.4(ZIC3):c.251C>G (p.Ala84Gly)
|
rs960337313
|
0.00002
|
NM_003413.4(ZIC3):c.420C>T (p.Phe140=)
|
rs761546254
|
0.00002
|
NM_003413.4(ZIC3):c.630C>T (p.Tyr210=)
|
rs779878257
|
0.00002
|
NM_004387.4(NKX2-5):c.13C>T (p.Pro5Ser)
|
rs769233111
|
0.00002
|
NM_004387.4(NKX2-5):c.257T>C (p.Phe86Ser)
|
rs373807012
|
0.00002
|
NM_004387.4(NKX2-5):c.381G>A (p.Ala127=)
|
rs957139658
|
0.00002
|
NM_004387.4(NKX2-5):c.510G>C (p.Gln170His)
|
rs1489743522
|
0.00002
|
NM_004387.4(NKX2-5):c.534G>A (p.Thr178=)
|
rs1315138203
|
0.00002
|
NM_004387.4(NKX2-5):c.605T>C (p.Leu202Pro)
|
rs768499098
|
0.00002
|
NM_004387.4(NKX2-5):c.650G>A (p.Arg217Lys)
|
rs751684900
|
0.00002
|
NM_004387.4(NKX2-5):c.887G>A (p.Gly296Asp)
|
rs373421818
|
0.00002
|
NM_004387.4(NKX2-5):c.898T>C (p.Leu300=)
|
rs761208569
|
0.00002
|
NM_004387.4(NKX2-5):c.915C>T (p.Ser305=)
|
rs760182745
|
0.00002
|
NM_004387.4(NKX2-5):c.943G>T (p.Val315Leu)
|
rs201249977
|
0.00002
|
NM_004821.3(HAND1):c.128A>G (p.Gln43Arg)
|
rs768965463
|
0.00002
|
NM_004821.3(HAND1):c.174G>C (p.Ala58=)
|
rs761768832
|
0.00002
|
NM_005159.5(ACTC1):c.180C>T (p.Ala60=)
|
rs370322510
|
0.00002
|
NM_005159.5(ACTC1):c.19A>T (p.Thr7Ser)
|
rs746748461
|
0.00002
|
NM_005159.5(ACTC1):c.217A>G (p.Ile73Val)
|
rs750951965
|
0.00002
|
NM_005159.5(ACTC1):c.294G>A (p.Val98=)
|
rs397517058
|
0.00002
|
NM_005159.5(ACTC1):c.333G>A (p.Pro111=)
|
rs774767260
|
0.00002
|
NM_005159.5(ACTC1):c.405C>T (p.Tyr135=)
|
rs181479041
|
0.00002
|
NM_005159.5(ACTC1):c.455-18G>A
|
rs925035661
|
0.00002
|
NM_005159.5(ACTC1):c.456C>T (p.Gly152=)
|
rs771310484
|
0.00002
|
NM_005159.5(ACTC1):c.617-10A>G
|
rs751985418
|
0.00002
|
NM_005159.5(ACTC1):c.809-11C>A
|
rs1175630739
|
0.00002
|
NM_005159.5(ACTC1):c.809-8G>A
|
rs767180775
|
0.00002
|
NM_005159.5(ACTC1):c.903A>G (p.Leu301=)
|
rs138347995
|
0.00002
|
NM_005159.5(ACTC1):c.991-13T>C
|
rs1375741970
|
0.00002
|
NM_005184.4(CALM3):c.178+17G>A
|
rs764944151
|
0.00002
|
NM_005184.4(CALM3):c.249G>A (p.Glu83=)
|
rs755348000
|
0.00002
|
NM_005184.4(CALM3):c.35-10C>T
|
rs748438358
|
0.00002
|
NM_005184.4(CALM3):c.354C>T (p.Thr118=)
|
rs750712140
|
0.00002
|
NM_005257.6(GATA6):c.1125T>A (p.Gly375=)
|
rs1203711555
|
0.00002
|
NM_005257.6(GATA6):c.1173G>A (p.Val391=)
|
rs1399740472
|
0.00002
|
NM_005257.6(GATA6):c.1223A>G (p.His408Arg)
|
rs1205923643
|
0.00002
|
NM_005257.6(GATA6):c.1377C>T (p.Ala459=)
|
rs765639422
|
0.00002
|
NM_005257.6(GATA6):c.277G>C (p.Gly93Arg)
|
rs529881815
|
0.00002
|
NM_005257.6(GATA6):c.314A>G (p.Asn105Ser)
|
rs1185679421
|
0.00002
|
NM_005257.6(GATA6):c.367A>G (p.Thr123Ala)
|
rs1194141406
|
0.00002
|
NM_005257.6(GATA6):c.502G>A (p.Gly168Ser)
|
rs774639835
|
0.00002
|
NM_005257.6(GATA6):c.534A>G (p.Ala178=)
|
rs1166249324
|
0.00002
|
NM_005257.6(GATA6):c.555C>T (p.Ser185=)
|
rs1337642807
|
0.00002
|
NM_005257.6(GATA6):c.589A>C (p.Met197Leu)
|
rs1245355073
|
0.00002
|
NM_005257.6(GATA6):c.857G>A (p.Gly286Asp)
|
rs1024878588
|
0.00002
|
NM_005257.6(GATA6):c.94C>A (p.Pro32Thr)
|
rs1166309522
|
0.00002
|
NM_005751.5(AKAP9):c.10007G>A (p.Arg3336Gln)
|
rs572101398
|
0.00002
|
NM_005751.5(AKAP9):c.10107T>C (p.Tyr3369=)
|
rs376961682
|
0.00002
|
NM_005751.5(AKAP9):c.10313G>A (p.Gly3438Glu)
|
rs758637158
|
0.00002
|
NM_005751.5(AKAP9):c.10378C>T (p.Leu3460=)
|
rs370129982
|
0.00002
|
NM_005751.5(AKAP9):c.10713+18T>C
|
rs945350718
|
0.00002
|
NM_005751.5(AKAP9):c.10713+20del
|
rs1348883488
|
0.00002
|
NM_005751.5(AKAP9):c.10887T>C (p.Gly3629=)
|
rs761734539
|
0.00002
|
NM_005751.5(AKAP9):c.1103A>G (p.Gln368Arg)
|
rs901965564
|
0.00002
|
NM_005751.5(AKAP9):c.11183G>C (p.Gly3728Ala)
|
rs1363239151
|
0.00002
|
NM_005751.5(AKAP9):c.11189A>C (p.Gln3730Pro)
|
rs372297197
|
0.00002
|
NM_005751.5(AKAP9):c.11307C>T (p.Val3769=)
|
rs955404695
|
0.00002
|
NM_005751.5(AKAP9):c.11330+15G>A
|
rs749274837
|
0.00002
|
NM_005751.5(AKAP9):c.11687-2A>G
|
rs1176473354
|
0.00002
|
NM_005751.5(AKAP9):c.1276A>G (p.Thr426Ala)
|
rs199780481
|
0.00002
|
NM_005751.5(AKAP9):c.1365A>G (p.Gln455=)
|
rs902008678
|
0.00002
|
NM_005751.5(AKAP9):c.1534C>G (p.Leu512Val)
|
rs767454911
|
0.00002
|
NM_005751.5(AKAP9):c.1623G>A (p.Arg541=)
|
rs746045284
|
0.00002
|
NM_005751.5(AKAP9):c.1828G>A (p.Val610Met)
|
rs768686908
|
0.00002
|
NM_005751.5(AKAP9):c.1851A>C (p.Ser617=)
|
rs1228322452
|
0.00002
|
NM_005751.5(AKAP9):c.211C>G (p.Gln71Glu)
|
rs61757668
|
0.00002
|
NM_005751.5(AKAP9):c.2407T>C (p.Leu803=)
|
rs759926255
|
0.00002
|
NM_005751.5(AKAP9):c.2604T>C (p.Tyr868=)
|
rs770476104
|
0.00002
|
NM_005751.5(AKAP9):c.2704T>G (p.Leu902Val)
|
rs893173151
|
0.00002
|
NM_005751.5(AKAP9):c.2743T>A (p.Ser915Thr)
|
rs371599265
|
0.00002
|
NM_005751.5(AKAP9):c.3099A>G (p.Gly1033=)
|
rs948846648
|
0.00002
|
NM_005751.5(AKAP9):c.3346C>T (p.Gln1116Ter)
|
rs757225520
|
0.00002
|
NM_005751.5(AKAP9):c.3394C>T (p.Arg1132Cys)
|
rs768107825
|
0.00002
|
NM_005751.5(AKAP9):c.339C>T (p.Asp113=)
|
rs1384886142
|
0.00002
|
NM_005751.5(AKAP9):c.3640T>C (p.Tyr1214His)
|
rs769011685
|
0.00002
|
NM_005751.5(AKAP9):c.3644C>T (p.Thr1215Ile)
|
rs762026625
|
0.00002
|
NM_005751.5(AKAP9):c.3715G>T (p.Asp1239Tyr)
|
rs758832151
|
0.00002
|
NM_005751.5(AKAP9):c.3736A>G (p.Arg1246Gly)
|
rs779232513
|
0.00002
|
NM_005751.5(AKAP9):c.3838-4A>G
|
rs565812419
|
0.00002
|
NM_005751.5(AKAP9):c.3953-3T>C
|
rs730880045
|
0.00002
|
NM_005751.5(AKAP9):c.4023A>T (p.Gln1341His)
|
rs765475242
|
0.00002
|
NM_005751.5(AKAP9):c.431C>G (p.Ser144Cys)
|
rs755140795
|
0.00002
|
NM_005751.5(AKAP9):c.4457A>G (p.His1486Arg)
|
rs755931396
|
0.00002
|
NM_005751.5(AKAP9):c.48+11C>T
|
rs1206811077
|
0.00002
|
NM_005751.5(AKAP9):c.48+5G>A
|
rs377559019
|
0.00002
|
NM_005751.5(AKAP9):c.5223A>G (p.Thr1741=)
|
rs760761631
|
0.00002
|
NM_005751.5(AKAP9):c.5301C>T (p.Ala1767=)
|
rs1060504956
|
0.00002
|
NM_005751.5(AKAP9):c.547G>A (p.Val183Ile)
|
rs750921440
|
0.00002
|
NM_005751.5(AKAP9):c.5554G>A (p.Ala1852Thr)
|
rs1221445886
|
0.00002
|
NM_005751.5(AKAP9):c.6029G>A (p.Cys2010Tyr)
|
rs755029879
|
0.00002
|
NM_005751.5(AKAP9):c.6046C>T (p.Arg2016Cys)
|
rs376950905
|
0.00002
|
NM_005751.5(AKAP9):c.604C>G (p.Gln202Glu)
|
rs147876926
|
0.00002
|
NM_005751.5(AKAP9):c.6296G>A (p.Arg2099Gln)
|
rs1240091785
|
0.00002
|
NM_005751.5(AKAP9):c.6727C>T (p.Arg2243Cys)
|
rs140457022
|
0.00002
|
NM_005751.5(AKAP9):c.6906G>A (p.Thr2302=)
|
rs746485312
|
0.00002
|
NM_005751.5(AKAP9):c.6931A>G (p.Thr2311Ala)
|
rs142509451
|
0.00002
|
NM_005751.5(AKAP9):c.7084G>A (p.Glu2362Lys)
|
rs374724127
|
0.00002
|
NM_005751.5(AKAP9):c.7096A>G (p.Ile2366Val)
|
rs368823780
|
0.00002
|
NM_005751.5(AKAP9):c.7114A>G (p.Met2372Val)
|
rs773105182
|
0.00002
|
NM_005751.5(AKAP9):c.723A>G (p.Gln241=)
|
rs748229690
|
0.00002
|
NM_005751.5(AKAP9):c.7309C>T (p.Arg2437Cys)
|
rs772366481
|
0.00002
|
NM_005751.5(AKAP9):c.7363A>G (p.Ile2455Val)
|
rs905116504
|
0.00002
|
NM_005751.5(AKAP9):c.8112A>C (p.Glu2704Asp)
|
rs761783446
|
0.00002
|
NM_005751.5(AKAP9):c.8181A>T (p.Thr2727=)
|
rs367793038
|
0.00002
|
NM_005751.5(AKAP9):c.8646+7G>T
|
rs776864125
|
0.00002
|
NM_005751.5(AKAP9):c.8659C>A (p.Pro2887Thr)
|
rs146689921
|
0.00002
|
NM_005751.5(AKAP9):c.8783G>A (p.Arg2928Gln)
|
rs141103974
|
0.00002
|
NM_005751.5(AKAP9):c.9000G>T (p.Lys3000Asn)
|
rs749082483
|
0.00002
|
NM_005751.5(AKAP9):c.9022G>A (p.Glu3008Lys)
|
rs190695638
|
0.00002
|
NM_005751.5(AKAP9):c.909G>A (p.Glu303=)
|
rs770983849
|
0.00002
|
NM_005751.5(AKAP9):c.9112C>T (p.Arg3038Cys)
|
rs753467156
|
0.00002
|
NM_005751.5(AKAP9):c.9182T>C (p.Leu3061Pro)
|
rs761435123
|
0.00002
|
NM_005751.5(AKAP9):c.9425G>T (p.Ser3142Ile)
|
rs148442799
|
0.00002
|
NM_005751.5(AKAP9):c.9683A>G (p.Lys3228Arg)
|
rs368263036
|
0.00002
|
NM_005751.5(AKAP9):c.9709C>T (p.Arg3237Trp)
|
rs749167841
|
0.00002
|
NM_005751.5(AKAP9):c.9730-16G>A
|
rs758993863
|
0.00002
|
NM_005751.5(AKAP9):c.9813C>T (p.Asn3271=)
|
rs749572064
|
0.00002
|
NM_006888.6(CALM1):c.285+17A>G
|
rs757946033
|
0.00002
|
NM_015335.5(MED13L):c.1765C>T (p.Leu589Phe)
|
rs372595490
|
0.00002
|
NM_015335.5(MED13L):c.2351G>A (p.Arg784Gln)
|
rs749407155
|
0.00002
|
NM_015335.5(MED13L):c.3069G>A (p.Thr1023=)
|
rs780149328
|
0.00002
|
NM_015335.5(MED13L):c.4269G>T (p.Val1423=)
|
rs997965874
|
0.00002
|
NM_015335.5(MED13L):c.4788T>A (p.Ile1596=)
|
rs757338321
|
0.00002
|
NM_015335.5(MED13L):c.479+18T>C
|
rs200912170
|
0.00002
|
NM_015335.5(MED13L):c.5058G>A (p.Thr1686=)
|
rs74757206
|
0.00002
|
NM_015335.5(MED13L):c.5162C>T (p.Ser1721Phe)
|
rs755513948
|
0.00002
|
NM_015335.5(MED13L):c.5471A>G (p.Asn1824Ser)
|
rs763491465
|
0.00002
|
NM_015335.5(MED13L):c.6486G>A (p.Thr2162=)
|
rs763493523
|
0.00002
|
NM_015335.5(MED13L):c.6549G>A (p.Pro2183=)
|
rs768288594
|
0.00002
|
NM_021005.4(NR2F2):c.443-5C>T
|
rs374487006
|
0.00002
|
NM_021005.4(NR2F2):c.4G>T (p.Ala2Ser)
|
rs1236325542
|
0.00002
|
NM_022114.4(PRDM16):c.108C>T (p.Asp36=)
|
rs770557050
|
0.00002
|
NM_022114.4(PRDM16):c.1098C>T (p.His366=)
|
rs764582197
|
0.00002
|
NM_022114.4(PRDM16):c.1116G>A (p.Gly372=)
|
rs757093442
|
0.00002
|
NM_022114.4(PRDM16):c.1152C>T (p.His384=)
|
rs1014743652
|
0.00002
|
NM_022114.4(PRDM16):c.1170G>A (p.Thr390=)
|
rs374263452
|
0.00002
|
NM_022114.4(PRDM16):c.1393C>G (p.Pro465Ala)
|
rs763015619
|
0.00002
|
NM_022114.4(PRDM16):c.1399C>T (p.Pro467Ser)
|
rs370407029
|
0.00002
|
NM_022114.4(PRDM16):c.1441G>A (p.Ala481Thr)
|
rs377240759
|
0.00002
|
NM_022114.4(PRDM16):c.1446C>T (p.Ser482=)
|
rs776196845
|
0.00002
|
NM_022114.4(PRDM16):c.1506G>A (p.Thr502=)
|
rs375543158
|
0.00002
|
NM_022114.4(PRDM16):c.1563C>G (p.Ser521=)
|
rs1355664737
|
0.00002
|
NM_022114.4(PRDM16):c.1577C>T (p.Pro526Leu)
|
rs1212640513
|
0.00002
|
NM_022114.4(PRDM16):c.1665C>A (p.Ala555=)
|
rs768209040
|
0.00002
|
NM_022114.4(PRDM16):c.1715C>A (p.Ala572Asp)
|
rs750914621
|
0.00002
|
NM_022114.4(PRDM16):c.1737C>T (p.Phe579=)
|
rs35579804
|
0.00002
|
NM_022114.4(PRDM16):c.1745G>A (p.Arg582His)
|
rs529401311
|
0.00002
|
NM_022114.4(PRDM16):c.1801G>A (p.Gly601Ser)
|
rs773915002
|
0.00002
|
NM_022114.4(PRDM16):c.1820T>C (p.Val607Ala)
|
rs866882253
|
0.00002
|
NM_022114.4(PRDM16):c.1850C>T (p.Thr617Met)
|
rs767242607
|
0.00002
|
NM_022114.4(PRDM16):c.2018C>T (p.Ser673Leu)
|
rs1270179748
|
0.00002
|
NM_022114.4(PRDM16):c.2088C>T (p.Ile696=)
|
rs755442577
|
0.00002
|
NM_022114.4(PRDM16):c.2265A>G (p.Pro755=)
|
rs374005215
|
0.00002
|
NM_022114.4(PRDM16):c.2307C>T (p.Ala769=)
|
rs746000528
|
0.00002
|
NM_022114.4(PRDM16):c.2392G>A (p.Gly798Ser)
|
rs371920642
|
0.00002
|
NM_022114.4(PRDM16):c.2435G>A (p.Arg812His)
|
rs764936593
|
0.00002
|
NM_022114.4(PRDM16):c.2444A>G (p.Gln815Arg)
|
rs1369390354
|
0.00002
|
NM_022114.4(PRDM16):c.2451C>T (p.Gly817=)
|
rs757162475
|
0.00002
|
NM_022114.4(PRDM16):c.2493C>A (p.Arg831=)
|
rs1185762574
|
0.00002
|
NM_022114.4(PRDM16):c.2667G>A (p.Pro889=)
|
rs774537766
|
0.00002
|
NM_022114.4(PRDM16):c.2754G>A (p.Ser918=)
|
rs1319181975
|
0.00002
|
NM_022114.4(PRDM16):c.2779C>A (p.His927Asn)
|
rs1043747428
|
0.00002
|
NM_022114.4(PRDM16):c.2916G>A (p.Thr972=)
|
rs537121344
|
0.00002
|
NM_022114.4(PRDM16):c.2940-5T>G
|
rs1471478685
|
0.00002
|
NM_022114.4(PRDM16):c.3139C>A (p.His1047Asn)
|
rs766964168
|
0.00002
|
NM_022114.4(PRDM16):c.3177G>A (p.Ser1059=)
|
rs576168703
|
0.00002
|
NM_022114.4(PRDM16):c.3284+14C>T
|
rs201774450
|
0.00002
|
NM_022114.4(PRDM16):c.3351C>T (p.Asp1117=)
|
rs936932210
|
0.00002
|
NM_022114.4(PRDM16):c.3363G>C (p.Glu1121Asp)
|
rs749724757
|
0.00002
|
NM_022114.4(PRDM16):c.3370G>A (p.Asp1124Asn)
|
rs771432997
|
0.00002
|
NM_022114.4(PRDM16):c.3387C>T (p.Asp1129=)
|
rs1435855185
|
0.00002
|
NM_022114.4(PRDM16):c.3595C>T (p.Arg1199Cys)
|
rs376762015
|
0.00002
|
NM_022114.4(PRDM16):c.360G>A (p.Ala120=)
|
rs775922979
|
0.00002
|
NM_022114.4(PRDM16):c.3670A>G (p.Thr1224Ala)
|
rs751991022
|
0.00002
|
NM_022114.4(PRDM16):c.3820A>G (p.Asn1274Asp)
|
rs1379723348
|
0.00002
|
NM_022114.4(PRDM16):c.489G>A (p.Ala163=)
|
rs746338723
|
0.00002
|
NM_022114.4(PRDM16):c.524C>T (p.Ala175Val)
|
rs371532027
|
0.00002
|
NM_022114.4(PRDM16):c.801G>A (p.Glu267=)
|
rs369972213
|
0.00002
|
NM_022114.4(PRDM16):c.811G>A (p.Glu271Lys)
|
rs200052869
|
0.00002
|
NM_022114.4(PRDM16):c.884+8_884+38del
|
rs1643499408
|
0.00002
|
NM_033337.3(CAV3):c.147G>A (p.Val49=)
|
rs777363173
|
0.00002
|
NM_033337.3(CAV3):c.243C>T (p.Gly81=)
|
rs564597663
|
0.00002
|
NM_033337.3(CAV3):c.267C>T (p.Gly89=)
|
rs765234409
|
0.00002
|
NM_033337.3(CAV3):c.30G>A (p.Glu10=)
|
rs587780883
|
0.00002
|
NM_033337.3(CAV3):c.401C>T (p.Ala134Val)
|
rs201267913
|
0.00002
|
NM_033337.3(CAV3):c.438G>A (p.Val146=)
|
rs1575478070
|
0.00002
|
NM_033337.3(CAV3):c.442C>T (p.Arg148Trp)
|
rs730880422
|
0.00002
|
NM_033337.3(CAV3):c.55T>C (p.Cys19Arg)
|
rs760170984
|
0.00002
|
NM_145020.5(CFAP53):c.1213+4A>G
|
rs745472916
|
0.00002
|
NM_145020.5(CFAP53):c.498T>A (p.Val166=)
|
rs576840719
|
0.00002
|
NM_145020.5(CFAP53):c.69+9A>G
|
rs1226448723
|
0.00002
|
NM_145020.5(CFAP53):c.804T>C (p.His268=)
|
rs763736108
|
0.00002
|
NM_145054.5(CFAP52):c.1027G>A (p.Gly343Ser)
|
rs920396220
|
0.00002
|
NM_145054.5(CFAP52):c.121T>C (p.Tyr41His)
|
rs371902741
|
0.00002
|
NM_145054.5(CFAP52):c.1257C>T (p.Gly419=)
|
rs768830852
|
0.00002
|
NM_145054.5(CFAP52):c.751T>C (p.Leu251=)
|
rs371814923
|
0.00002
|
NM_172201.2(KCNE2):c.204G>A (p.Leu68=)
|
rs200403369
|
0.00002
|
NM_172201.2(KCNE2):c.238T>C (p.Ser80Pro)
|
rs893883306
|
0.00002
|
NM_172201.2(KCNE2):c.281A>G (p.Glu94Gly)
|
rs74424227
|
0.00002
|
NM_172201.2(KCNE2):c.348G>A (p.Ala116=)
|
rs16991657
|
0.00002
|
NM_174934.4(SCN4B):c.239T>C (p.Ile80Thr)
|
rs546190140
|
0.00002
|
NM_174934.4(SCN4B):c.34G>A (p.Ala12Thr)
|
rs752598271
|
0.00002
|
NM_174934.4(SCN4B):c.373G>A (p.Asp125Asn)
|
rs1353607051
|
0.00002
|
NM_174934.4(SCN4B):c.463C>T (p.Leu155=)
|
rs761173704
|
0.00002
|
NM_174934.4(SCN4B):c.464-11G>A
|
rs773494545
|
0.00002
|
NM_174934.4(SCN4B):c.568A>C (p.Ile190Leu)
|
rs757147726
|
0.00002
|
NM_174934.4(SCN4B):c.593+10T>C
|
rs751802844
|
0.00002
|
NM_174934.4(SCN4B):c.594-2A>G
|
rs375535030
|
0.00002
|
NM_174934.4(SCN4B):c.627C>T (p.Asp209=)
|
rs371872353
|
0.00002
|
NM_174934.4(SCN4B):c.658G>A (p.Ala220Thr)
|
rs1235880227
|
0.00002
|
NC_000018.10:g.22169190A>T
|
rs916466917
|
0.00001
|
NM_000218.3(KCNQ1):c.1008C>T (p.Ala336=)
|
rs201009813
|
0.00001
|
NM_000218.3(KCNQ1):c.1011C>T (p.Ile337=)
|
rs794728521
|
0.00001
|
NM_000218.3(KCNQ1):c.1023G>A (p.Ala341=)
|
rs772363276
|
0.00001
|
NM_000218.3(KCNQ1):c.1031C>T (p.Ala344Val)
|
rs199472763
|
0.00001
|
NM_000218.3(KCNQ1):c.1032+1G>A
|
rs397508070
|
0.00001
|
NM_000218.3(KCNQ1):c.1032G>A (p.Ala344=)
|
rs1800171
|
0.00001
|
NM_000218.3(KCNQ1):c.1034G>A (p.Gly345Glu)
|
rs120074183
|
0.00001
|
NM_000218.3(KCNQ1):c.1035G>A (p.Gly345=)
|
rs534906627
|
0.00001
|
NM_000218.3(KCNQ1):c.1047G>A (p.Ser349=)
|
rs199630316
|
0.00001
|
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg)
|
rs12720458
|
0.00001
|
NM_000218.3(KCNQ1):c.1096C>A (p.Arg366=)
|
rs199473411
|
0.00001
|
NM_000218.3(KCNQ1):c.1109C>T (p.Ala370Val)
|
rs775362401
|
0.00001
|
NM_000218.3(KCNQ1):c.1128+13C>A
|
rs1218132232
|
0.00001
|
NM_000218.3(KCNQ1):c.1128+3G>A
|
rs539607508
|
0.00001
|
NM_000218.3(KCNQ1):c.1131C>T (p.Thr377=)
|
rs763723387
|
0.00001
|
NM_000218.3(KCNQ1):c.1132G>A (p.Ala378Thr)
|
rs756571615
|
0.00001
|
NM_000218.3(KCNQ1):c.1140G>A (p.Arg380=)
|
rs199472771
|
0.00001
|
NM_000218.3(KCNQ1):c.1142G>A (p.Cys381Tyr)
|
rs368507376
|
0.00001
|
NM_000218.3(KCNQ1):c.114G>C (p.Leu38=)
|
rs1386513213
|
0.00001
|
NM_000218.3(KCNQ1):c.1153G>A (p.Glu385Lys)
|
rs199473473
|
0.00001
|
NM_000218.3(KCNQ1):c.1161C>T (p.Pro387=)
|
rs772078282
|
0.00001
|
NM_000218.3(KCNQ1):c.1164C>T (p.Asp388=)
|
rs555968887
|
0.00001
|
NM_000218.3(KCNQ1):c.1185C>T (p.Tyr395=)
|
rs764870839
|
0.00001
|
NM_000218.3(KCNQ1):c.1190G>A (p.Arg397Gln)
|
rs374090960
|
0.00001
|
NM_000218.3(KCNQ1):c.1198C>G (p.Pro400Ala)
|
rs1489132337
|
0.00001
|
NM_000218.3(KCNQ1):c.1202G>A (p.Arg401Gln)
|
rs542628042
|
0.00001
|
NM_000218.3(KCNQ1):c.123G>A (p.Ala41=)
|
rs1450451878
|
0.00001
|
NM_000218.3(KCNQ1):c.1251+9C>A
|
rs373467697
|
0.00001
|
NM_000218.3(KCNQ1):c.1252-11G>T
|
rs773848861
|
0.00001
|
NM_000218.3(KCNQ1):c.1252-1G>C
|
rs1848628661
|
0.00001
|
NM_000218.3(KCNQ1):c.1257G>A (p.Lys419=)
|
rs759955554
|
0.00001
|
NM_000218.3(KCNQ1):c.1263A>G (p.Lys421=)
|
rs765645573
|
0.00001
|
NM_000218.3(KCNQ1):c.1281A>G (p.Lys427=)
|
rs763197403
|
0.00001
|
NM_000218.3(KCNQ1):c.1285A>G (p.Asn429Asp)
|
rs778979075
|
0.00001
|
NM_000218.3(KCNQ1):c.1286A>G (p.Asn429Ser)
|
rs1464968488
|
0.00001
|
NM_000218.3(KCNQ1):c.129C>T (p.Gly43=)
|
rs1057520400
|
0.00001
|
NM_000218.3(KCNQ1):c.1335C>T (p.Cys445=)
|
rs890238618
|
0.00001
|
NM_000218.3(KCNQ1):c.1336G>A (p.Asp446Asn)
|
rs149089817
|
0.00001
|
NM_000218.3(KCNQ1):c.1348G>A (p.Glu450Lys)
|
rs148266527
|
0.00001
|
NM_000218.3(KCNQ1):c.1351C>T (p.Arg451Trp)
|
rs199472782
|
0.00001
|
NM_000218.3(KCNQ1):c.1356G>T (p.Arg452=)
|
rs753619991
|
0.00001
|
NM_000218.3(KCNQ1):c.1377C>T (p.Asp459=)
|
rs200418488
|
0.00001
|
NM_000218.3(KCNQ1):c.137C>A (p.Ala46Glu)
|
rs1194125121
|
0.00001
|
NM_000218.3(KCNQ1):c.1384G>A (p.Asp462Asn)
|
rs776205380
|
0.00001
|
NM_000218.3(KCNQ1):c.1394-18C>G
|
rs543054197
|
0.00001
|
NM_000218.3(KCNQ1):c.1415T>C (p.Leu472Pro)
|
rs544402388
|
0.00001
|
NM_000218.3(KCNQ1):c.1425C>T (p.Ser475=)
|
rs562579708
|
0.00001
|
NM_000218.3(KCNQ1):c.1446C>T (p.Thr482=)
|
rs1060503982
|
0.00001
|
NM_000218.3(KCNQ1):c.1464C>A (p.Asp488Glu)
|
rs778041701
|
0.00001
|
NM_000218.3(KCNQ1):c.1498A>G (p.Ile500Val)
|
rs189794855
|
0.00001
|
NM_000218.3(KCNQ1):c.1501A>G (p.Thr501Ala)
|
rs749196110
|
0.00001
|
NM_000218.3(KCNQ1):c.1514+9C>T
|
rs770840921
|
0.00001
|
NM_000218.3(KCNQ1):c.1520G>A (p.Arg507Gln)
|
rs369571296
|
0.00001
|
NM_000218.3(KCNQ1):c.1532G>A (p.Arg511Gln)
|
rs753962384
|
0.00001
|
NM_000218.3(KCNQ1):c.1556G>A (p.Arg519His)
|
rs199472788
|
0.00001
|
NM_000218.3(KCNQ1):c.1563G>A (p.Gln521=)
|
rs1468372406
|
0.00001
|
NM_000218.3(KCNQ1):c.1576A>G (p.Lys526Glu)
|
rs199472792
|
0.00001
|
NM_000218.3(KCNQ1):c.1588C>T (p.Gln530Ter)
|
rs397508097
|
0.00001
|
NM_000218.3(KCNQ1):c.1590+1G>A
|
rs767921776
|
0.00001
|
NM_000218.3(KCNQ1):c.1591-5C>T
|
rs1311166904
|
0.00001
|
NM_000218.3(KCNQ1):c.1597C>T (p.Arg533Trp)
|
rs199472793
|
0.00001
|
NM_000218.3(KCNQ1):c.1598G>A (p.Arg533Gln)
|
rs574321120
|
0.00001
|
NM_000218.3(KCNQ1):c.1608C>T (p.Tyr536=)
|
rs138551008
|
0.00001
|
NM_000218.3(KCNQ1):c.1615C>T (p.Arg539Trp)
|
rs199472795
|
0.00001
|
NM_000218.3(KCNQ1):c.165G>T (p.Ala55=)
|
rs921646979
|
0.00001
|
NM_000218.3(KCNQ1):c.1664G>A (p.Arg555His)
|
rs199472800
|
0.00001
|
NM_000218.3(KCNQ1):c.1685+18G>T
|
rs1192048960
|
0.00001
|
NM_000218.3(KCNQ1):c.1685+9G>A
|
rs545535640
|
0.00001
|
NM_000218.3(KCNQ1):c.1686-18C>G
|
rs1846715620
|
0.00001
|
NM_000218.3(KCNQ1):c.1716G>A (p.Leu572=)
|
rs886039093
|
0.00001
|
NM_000218.3(KCNQ1):c.1719C>T (p.Phe573=)
|
rs199472810
|
0.00001
|
NM_000218.3(KCNQ1):c.1728C>T (p.Val576=)
|
rs144363041
|
0.00001
|
NM_000218.3(KCNQ1):c.1764C>T (p.Ile588=)
|
rs377206449
|
0.00001
|
NM_000218.3(KCNQ1):c.1765G>A (p.Gly589Ser)
|
rs780676796
|
0.00001
|
NM_000218.3(KCNQ1):c.177A>G (p.Pro59=)
|
rs1403467559
|
0.00001
|
NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln)
|
rs199472815
|
0.00001
|
NM_000218.3(KCNQ1):c.1785A>G (p.Val595=)
|
rs1027750390
|
0.00001
|
NM_000218.3(KCNQ1):c.1794+15C>T
|
rs759410280
|
0.00001
|
NM_000218.3(KCNQ1):c.1794+6C>T
|
rs1481251308
|
0.00001
|
NM_000218.3(KCNQ1):c.1795-5C>T
|
rs727503104
|
0.00001
|
NM_000218.3(KCNQ1):c.1795-6C>T
|
rs1412279664
|
0.00001
|
NM_000218.3(KCNQ1):c.1806G>A (p.Leu602=)
|
rs991680454
|
0.00001
|
NM_000218.3(KCNQ1):c.1830C>T (p.Thr610=)
|
rs774101297
|
0.00001
|
NM_000218.3(KCNQ1):c.1851C>T (p.Leu617=)
|
rs962199389
|
0.00001
|
NM_000218.3(KCNQ1):c.1864G>A (p.Gly622Ser)
|
rs1225780996
|
0.00001
|
NM_000218.3(KCNQ1):c.1876G>A (p.Gly626Ser)
|
rs199472821
|
0.00001
|
NM_000218.3(KCNQ1):c.1884C>T (p.Gly628=)
|
rs769848998
|
0.00001
|
NM_000218.3(KCNQ1):c.189C>G (p.Pro63=)
|
rs1398693672
|
0.00001
|
NM_000218.3(KCNQ1):c.1904G>A (p.Gly635Glu)
|
rs939431028
|
0.00001
|
NM_000218.3(KCNQ1):c.1925G>T (p.Cys642Phe)
|
rs1456989889
|
0.00001
|
NM_000218.3(KCNQ1):c.192T>C (p.Pro64=)
|
rs1360376744
|
0.00001
|
NM_000218.3(KCNQ1):c.1941C>T (p.Ser647=)
|
rs1386852977
|
0.00001
|
NM_000218.3(KCNQ1):c.1978C>T (p.Pro660Ser)
|
rs867880610
|
0.00001
|
NM_000218.3(KCNQ1):c.1998C>T (p.Thr666=)
|
rs775497150
|
0.00001
|
NM_000218.3(KCNQ1):c.1999G>A (p.Val667Met)
|
rs776119582
|
0.00001
|
NM_000218.3(KCNQ1):c.2009G>A (p.Arg670Lys)
|
rs763389576
|
0.00001
|
NM_000218.3(KCNQ1):c.222A>G (p.Pro74=)
|
rs1380003005
|
0.00001
|
NM_000218.3(KCNQ1):c.232G>C (p.Asp78His)
|
rs1846020954
|
0.00001
|
NM_000218.3(KCNQ1):c.255G>A (p.Val85=)
|
rs766078716
|
0.00001
|
NM_000218.3(KCNQ1):c.267G>A (p.Pro89=)
|
rs907132030
|
0.00001
|
NM_000218.3(KCNQ1):c.287C>G (p.Thr96Arg)
|
rs1337409061
|
0.00001
|
NM_000218.3(KCNQ1):c.297G>C (p.Pro99=)
|
rs778702162
|
0.00001
|
NM_000218.3(KCNQ1):c.301T>C (p.Leu101=)
|
rs1186850886
|
0.00001
|
NM_000218.3(KCNQ1):c.324C>T (p.Gly108=)
|
rs372757312
|
0.00001
|
NM_000218.3(KCNQ1):c.332A>G (p.Tyr111Cys)
|
rs199472678
|
0.00001
|
NM_000218.3(KCNQ1):c.343G>A (p.Glu115Lys)
|
rs794728553
|
0.00001
|
NM_000218.3(KCNQ1):c.38A>G (p.Lys13Arg)
|
rs1060500622
|
0.00001
|
NM_000218.3(KCNQ1):c.394A>C (p.Ile132Leu)
|
rs199472684
|
0.00001
|
NM_000218.3(KCNQ1):c.411C>T (p.Leu137=)
|
rs1035435122
|
0.00001
|
NM_000218.3(KCNQ1):c.420C>T (p.Ser140=)
|
rs377520734
|
0.00001
|
NM_000218.3(KCNQ1):c.437A>G (p.Glu146Gly)
|
rs914460959
|
0.00001
|
NM_000218.3(KCNQ1):c.462G>A (p.Gly154=)
|
rs759593218
|
0.00001
|
NM_000218.3(KCNQ1):c.475A>T (p.Met159Leu)
|
rs1589931165
|
0.00001
|
NM_000218.3(KCNQ1):c.477+1G>A
|
rs762814879
|
0.00001
|
NM_000218.3(KCNQ1):c.477+4C>T
|
rs763599970
|
0.00001
|
NM_000218.3(KCNQ1):c.477+5G>A
|
rs397508111
|
0.00001
|
NM_000218.3(KCNQ1):c.478-7C>G
|
rs372906106
|
0.00001
|
NM_000218.3(KCNQ1):c.502G>A (p.Gly168Arg)
|
rs179489
|
0.00001
|
NM_000218.3(KCNQ1):c.506C>T (p.Thr169Met)
|
rs199472693
|
0.00001
|
NM_000218.3(KCNQ1):c.514G>A (p.Val172Met)
|
rs199472694
|
0.00001
|
NM_000218.3(KCNQ1):c.520C>T (p.Arg174Cys)
|
rs199472696
|
0.00001
|
NM_000218.3(KCNQ1):c.521G>A (p.Arg174His)
|
rs199472697
|
0.00001
|
NM_000218.3(KCNQ1):c.535G>A (p.Gly179Ser)
|
rs199473394
|
0.00001
|
NM_000218.3(KCNQ1):c.541C>T (p.Arg181Cys)
|
rs199473395
|
0.00001
|
NM_000218.3(KCNQ1):c.552C>T (p.Tyr184=)
|
rs780231722
|
0.00001
|
NM_000218.3(KCNQ1):c.560T>C (p.Leu187Pro)
|
rs199473399
|
0.00001
|
NM_000218.3(KCNQ1):c.574C>T (p.Arg192Cys)
|
rs775059928
|
0.00001
|
NM_000218.3(KCNQ1):c.575G>A (p.Arg192His)
|
rs199472698
|
0.00001
|
NM_000218.3(KCNQ1):c.576C>T (p.Arg192=)
|
rs762267954
|
0.00001
|
NM_000218.3(KCNQ1):c.592A>G (p.Ile198Val)
|
rs199472700
|
0.00001
|
NM_000218.3(KCNQ1):c.604+12C>T
|
rs370821907
|
0.00001
|
NM_000218.3(KCNQ1):c.604+16C>T
|
rs746807746
|
0.00001
|
NM_000218.3(KCNQ1):c.604+19G>A
|
rs780717196
|
0.00001
|
NM_000218.3(KCNQ1):c.604G>A (p.Asp202Asn)
|
rs199472702
|
0.00001
|
NM_000218.3(KCNQ1):c.605-10C>T
|
rs1301374663
|
0.00001
|
NM_000218.3(KCNQ1):c.605A>G (p.Asp202Gly)
|
rs794728569
|
0.00001
|
NM_000218.3(KCNQ1):c.612C>T (p.Ile204=)
|
rs199473455
|
0.00001
|
NM_000218.3(KCNQ1):c.62C>T (p.Pro21Leu)
|
rs1589884196
|
0.00001
|
NM_000218.3(KCNQ1):c.643G>A (p.Val215Met)
|
rs17215479
|
0.00001
|
NM_000218.3(KCNQ1):c.644T>G (p.Val215Gly)
|
rs368011737
|
0.00001
|
NM_000218.3(KCNQ1):c.64G>C (p.Gly22Arg)
|
rs794728545
|
0.00001
|
NM_000218.3(KCNQ1):c.672G>A (p.Thr224=)
|
rs550887954
|
0.00001
|
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu)
|
rs199473456
|
0.00001
|
NM_000218.3(KCNQ1):c.683+5G>A
|
rs397508122
|
0.00001
|
NM_000218.3(KCNQ1):c.684-15C>T
|
rs752087023
|
0.00001
|
NM_000218.3(KCNQ1):c.684-17C>T
|
rs1399659408
|
0.00001
|
NM_000218.3(KCNQ1):c.684-5C>T
|
rs1212611138
|
0.00001
|
NM_000218.3(KCNQ1):c.691C>T (p.Arg231Cys)
|
rs199473457
|
0.00001
|
NM_000218.3(KCNQ1):c.698T>C (p.Leu233Pro)
|
rs780236727
|
0.00001
|
NM_000218.3(KCNQ1):c.70C>T (p.Arg24Trp)
|
rs990778345
|
0.00001
|
NM_000218.3(KCNQ1):c.721G>A (p.Val241Ile)
|
rs199956744
|
0.00001
|
NM_000218.3(KCNQ1):c.727C>T (p.Arg243Cys)
|
rs199472713
|
0.00001
|
NM_000218.3(KCNQ1):c.728G>A (p.Arg243His)
|
rs120074196
|
0.00001
|
NM_000218.3(KCNQ1):c.729C>T (p.Arg243=)
|
rs755104170
|
0.00001
|
NM_000218.3(KCNQ1):c.776G>A (p.Arg259His)
|
rs199472720
|
0.00001
|
NM_000218.3(KCNQ1):c.802A>G (p.Ile268Val)
|
rs757421492
|
0.00001
|
NM_000218.3(KCNQ1):c.806G>A (p.Gly269Asp)
|
rs120074194
|
0.00001
|
NM_000218.3(KCNQ1):c.815G>A (p.Gly272Asp)
|
rs199472726
|
0.00001
|
NM_000218.3(KCNQ1):c.830C>T (p.Ser277Leu)
|
rs199472730
|
0.00001
|
NM_000218.3(KCNQ1):c.844C>T (p.Leu282=)
|
rs979241598
|
0.00001
|
NM_000218.3(KCNQ1):c.861G>A (p.Ala287=)
|
rs764403483
|
0.00001
|
NM_000218.3(KCNQ1):c.867C>T (p.Asn289=)
|
rs1262523905
|
0.00001
|
NM_000218.3(KCNQ1):c.870G>A (p.Glu290=)
|
rs1438599984
|
0.00001
|
NM_000218.3(KCNQ1):c.880G>A (p.Val294Met)
|
rs749073770
|
0.00001
|
NM_000218.3(KCNQ1):c.888C>T (p.Phe296=)
|
rs768506433
|
0.00001
|
NM_000218.3(KCNQ1):c.897C>T (p.Tyr299=)
|
rs373183513
|
0.00001
|
NM_000218.3(KCNQ1):c.905C>T (p.Ala302Val)
|
rs193922365
|
0.00001
|
NM_000218.3(KCNQ1):c.914G>A (p.Trp305Ter)
|
rs120074186
|
0.00001
|
NM_000218.3(KCNQ1):c.921+17C>T
|
rs370226856
|
0.00001
|
NM_000218.3(KCNQ1):c.939C>T (p.Ile313=)
|
rs199472747
|
0.00001
|
NM_000218.3(KCNQ1):c.944A>T (p.Tyr315Phe)
|
rs74462309
|
0.00001
|
NM_000218.3(KCNQ1):c.981C>T (p.Thr327=)
|
rs1848536339
|
0.00001
|
NM_000218.3(KCNQ1):c.985G>A (p.Ala329Thr)
|
rs543428644
|
0.00001
|
NM_000218.3(KCNQ1):c.999T>G (p.Ser333=)
|
rs769230282
|
0.00001
|
NM_000219.6(KCNE1):c.179G>A (p.Gly60Asp)
|
rs758961135
|
0.00001
|
NM_000219.6(KCNE1):c.218A>G (p.His73Arg)
|
rs1276203367
|
0.00001
|
NM_000219.6(KCNE1):c.221C>T (p.Ser74Leu)
|
rs74315446
|
0.00001
|
NM_000219.6(KCNE1):c.237C>T (p.Asn79=)
|
rs746345034
|
0.00001
|
NM_000219.6(KCNE1):c.242A>G (p.Tyr81Cys)
|
rs199473359
|
0.00001
|
NM_000219.6(KCNE1):c.246C>T (p.Ile82=)
|
rs555086287
|
0.00001
|
NM_000219.6(KCNE1):c.264A>G (p.Gln88=)
|
rs1478444473
|
0.00001
|
NM_000219.6(KCNE1):c.277G>A (p.Ala93Thr)
|
rs1310229049
|
0.00001
|
NM_000219.6(KCNE1):c.54G>A (p.Gln18=)
|
rs149875299
|
0.00001
|
NM_000219.6(KCNE1):c.78C>T (p.Asn26=)
|
rs201604169
|
0.00001
|
NM_000219.6(KCNE1):c.94C>T (p.Arg32Cys)
|
rs200963514
|
0.00001
|
NM_000238.4(KCNH2):c.1010C>G (p.Thr337Ser)
|
rs41311018
|
0.00001
|
NM_000238.4(KCNH2):c.1035C>T (p.Gly345=)
|
rs576125279
|
0.00001
|
NM_000238.4(KCNH2):c.1052C>T (p.Ser351Leu)
|
rs759134380
|
0.00001
|
NM_000238.4(KCNH2):c.1066C>T (p.Arg356Cys)
|
rs772689518
|
0.00001
|
NM_000238.4(KCNH2):c.1099A>T (p.Thr367Ser)
|
rs199472890
|
0.00001
|
NM_000238.4(KCNH2):c.1107T>C (p.Asn369=)
|
rs372231104
|
0.00001
|
NM_000238.4(KCNH2):c.1128+1792C>T
|
rs1060500667
|
0.00001
|
NM_000238.4(KCNH2):c.1128+1810C>T
|
rs972201049
|
0.00001
|
NM_000238.4(KCNH2):c.1128+1849G>A
|
rs1167016668
|
0.00001
|
NM_000238.4(KCNH2):c.1128+1854G>A
|
rs995080056
|
0.00001
|
NM_000238.4(KCNH2):c.1128+1860C>T
|
rs767264288
|
0.00001
|
NM_000238.4(KCNH2):c.1128+1868G>C
|
rs990053814
|
0.00001
|
NM_000238.4(KCNH2):c.1128+1870G>A
|
rs1219643674
|
0.00001
|
NM_000238.4(KCNH2):c.1143C>T (p.Gly381=)
|
rs1452623581
|
0.00001
|
NM_000238.4(KCNH2):c.1146C>T (p.Ala382=)
|
rs202147325
|
0.00001
|
NM_000238.4(KCNH2):c.1178C>T (p.Pro393Leu)
|
rs769814960
|
0.00001
|
NM_000238.4(KCNH2):c.1190G>A (p.Arg397His)
|
rs368817970
|
0.00001
|
NM_000238.4(KCNH2):c.1224C>T (p.Ala408=)
|
rs372318358
|
0.00001
|
NM_000238.4(KCNH2):c.1263G>A (p.Thr421=)
|
rs368109121
|
0.00001
|
NM_000238.4(KCNH2):c.1266T>C (p.Ala422=)
|
rs375112881
|
0.00001
|
NM_000238.4(KCNH2):c.1283C>T (p.Ser428Leu)
|
rs199472899
|
0.00001
|
NM_000238.4(KCNH2):c.1319C>T (p.Pro440Leu)
|
rs199473509
|
0.00001
|
NM_000238.4(KCNH2):c.1329C>T (p.Thr443=)
|
rs754215143
|
0.00001
|
NM_000238.4(KCNH2):c.132C>T (p.Cys44=)
|
rs199472838
|
0.00001
|
NM_000238.4(KCNH2):c.1330G>A (p.Glu444Lys)
|
rs201268831
|
0.00001
|
NM_000238.4(KCNH2):c.1352C>T (p.Pro451Leu)
|
rs199472902
|
0.00001
|
NM_000238.4(KCNH2):c.136G>A (p.Asp46Asn)
|
rs794728408
|
0.00001
|
NM_000238.4(KCNH2):c.138C>G (p.Asp46Glu)
|
rs752503743
|
0.00001
|
NM_000238.4(KCNH2):c.1402C>T (p.Leu468Phe)
|
rs267601414
|
0.00001
|
NM_000238.4(KCNH2):c.1404C>T (p.Leu468=)
|
rs1448964607
|
0.00001
|
NM_000238.4(KCNH2):c.1407C>A (p.Ile469=)
|
rs759310358
|
0.00001
|
NM_000238.4(KCNH2):c.1426G>A (p.Val476Ile)
|
rs199472908
|
0.00001
|
NM_000238.4(KCNH2):c.1447G>A (p.Val483Ile)
|
rs755834128
|
0.00001
|
NM_000238.4(KCNH2):c.1470C>T (p.Ala490=)
|
rs1228965902
|
0.00001
|
NM_000238.4(KCNH2):c.1474C>T (p.His492Tyr)
|
rs199472910
|
0.00001
|
NM_000238.4(KCNH2):c.1476C>T (p.His492=)
|
rs1801213900
|
0.00001
|
NM_000238.4(KCNH2):c.1497C>T (p.Leu499=)
|
rs926503173
|
0.00001
|
NM_000238.4(KCNH2):c.150G>T (p.Glu50Asp)
|
rs199472841
|
0.00001
|
NM_000238.4(KCNH2):c.1516A>G (p.Ile506Val)
|
rs773139548
|
0.00001
|
NM_000238.4(KCNH2):c.1557+6G>A
|
rs746174154
|
0.00001
|
NM_000238.4(KCNH2):c.1558-20G>A
|
rs769553994
|
0.00001
|
NM_000238.4(KCNH2):c.1558-8T>A
|
rs1032007159
|
0.00001
|
NM_000238.4(KCNH2):c.156C>T (p.Cys52=)
|
rs754921704
|
0.00001
|
NM_000238.4(KCNH2):c.1582C>T (p.Arg528Trp)
|
rs864622403
|
0.00001
|
NM_000238.4(KCNH2):c.1621C>T (p.Arg541Cys)
|
rs764666519
|
0.00001
|
NM_000238.4(KCNH2):c.1639G>A (p.Ala547Thr)
|
rs376021230
|
0.00001
|
NM_000238.4(KCNH2):c.1640C>T (p.Ala547Val)
|
rs1473812774
|
0.00001
|
NM_000238.4(KCNH2):c.1668C>T (p.Thr556=)
|
rs748266308
|
0.00001
|
NM_000238.4(KCNH2):c.169G>A (p.Ala57Thr)
|
rs199472846
|
0.00001
|
NM_000238.4(KCNH2):c.1707C>T (p.Tyr569=)
|
rs777831008
|
0.00001
|
NM_000238.4(KCNH2):c.1713C>T (p.Ile571=)
|
rs768652751
|
0.00001
|
NM_000238.4(KCNH2):c.1725G>A (p.Glu575=)
|
rs764865502
|
0.00001
|
NM_000238.4(KCNH2):c.1731A>T (p.Pro577=)
|
rs1438092503
|
0.00001
|
NM_000238.4(KCNH2):c.1745G>A (p.Arg582His)
|
rs199473426
|
0.00001
|
NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser)
|
rs199473428
|
0.00001
|
NM_000238.4(KCNH2):c.1770C>T (p.Gly590=)
|
rs369187892
|
0.00001
|
NM_000238.4(KCNH2):c.177G>A (p.Val59=)
|
rs753837732
|
0.00001
|
NM_000238.4(KCNH2):c.1781G>A (p.Gly594Asp)
|
rs199472931
|
0.00001
|
NM_000238.4(KCNH2):c.1815C>G (p.Pro605=)
|
rs1184158072
|
0.00001
|
NM_000238.4(KCNH2):c.1842G>A (p.Ala614=)
|
rs746863761
|
0.00001
|
NM_000238.4(KCNH2):c.1845C>G (p.Leu615=)
|
rs946076506
|
0.00001
|
NM_000238.4(KCNH2):c.185G>A (p.Arg62Gln)
|
rs199473664
|
0.00001
|
NM_000238.4(KCNH2):c.186A>T (p.Arg62=)
|
rs1313067678
|
0.00001
|
NM_000238.4(KCNH2):c.188C>A (p.Pro63His)
|
rs766379103
|
0.00001
|
NM_000238.4(KCNH2):c.1929C>T (p.Cys643=)
|
rs755698372
|
0.00001
|
NM_000238.4(KCNH2):c.1930G>A (p.Val644Ile)
|
rs199472972
|
0.00001
|
NM_000238.4(KCNH2):c.1946-16G>A
|
rs376848355
|
0.00001
|
NM_000238.4(KCNH2):c.1946-17C>T
|
rs763430080
|
0.00001
|
NM_000238.4(KCNH2):c.1946-4C>G
|
rs1169211344
|
0.00001
|
NM_000238.4(KCNH2):c.1946-7C>T
|
rs1415460379
|
0.00001
|
NM_000238.4(KCNH2):c.1946-8G>A
|
rs1384850938
|
0.00001
|
NM_000238.4(KCNH2):c.1968C>T (p.Phe656=)
|
rs1238904019
|
0.00001
|
NM_000238.4(KCNH2):c.1979C>T (p.Ser660Leu)
|
rs199472979
|
0.00001
|
NM_000238.4(KCNH2):c.1980G>A (p.Ser660=)
|
rs774258761
|
0.00001
|
NM_000238.4(KCNH2):c.2014C>T (p.Arg672Cys)
|
rs769197005
|
0.00001
|
NM_000238.4(KCNH2):c.2030T>C (p.Met677Thr)
|
rs756870695
|
0.00001
|
NM_000238.4(KCNH2):c.2053C>T (p.Arg685Cys)
|
rs778135438
|
0.00001
|
NM_000238.4(KCNH2):c.2054G>A (p.Arg685His)
|
rs758751607
|
0.00001
|
NM_000238.4(KCNH2):c.2080C>T (p.Arg694Cys)
|
rs765717858
|
0.00001
|
NM_000238.4(KCNH2):c.2081G>A (p.Arg694His)
|
rs794728383
|
0.00001
|
NM_000238.4(KCNH2):c.2091C>T (p.Leu697=)
|
rs968886132
|
0.00001
|
NM_000238.4(KCNH2):c.2092G>A (p.Glu698Lys)
|
rs753966347
|
0.00001
|
NM_000238.4(KCNH2):c.2097G>T (p.Glu699Asp)
|
rs550680502
|
0.00001
|
NM_000238.4(KCNH2):c.2109C>T (p.His703=)
|
rs202214833
|
0.00001
|
NM_000238.4(KCNH2):c.2121C>T (p.Tyr707=)
|
rs1307528282
|
0.00001
|
NM_000238.4(KCNH2):c.2122A>G (p.Thr708Ala)
|
rs1554425463
|
0.00001
|
NM_000238.4(KCNH2):c.2133C>T (p.Ile711=)
|
rs562349092
|
0.00001
|
NM_000238.4(KCNH2):c.2145+17G>A
|
rs201021019
|
0.00001
|
NM_000238.4(KCNH2):c.2146-18C>T
|
rs770433324
|
0.00001
|
NM_000238.4(KCNH2):c.2166G>A (p.Glu722=)
|
rs1201327312
|
0.00001
|
NM_000238.4(KCNH2):c.2200C>T (p.Arg734Cys)
|
rs143072395
|
0.00001
|
NM_000238.4(KCNH2):c.2208G>A (p.Leu736=)
|
rs1302068958
|
0.00001
|
NM_000238.4(KCNH2):c.2222A>G (p.Lys741Arg)
|
rs538224282
|
0.00001
|
NM_000238.4(KCNH2):c.222G>A (p.Thr74=)
|
rs1243986727
|
0.00001
|
NM_000238.4(KCNH2):c.2231G>A (p.Arg744Gln)
|
rs1264176305
|
0.00001
|
NM_000238.4(KCNH2):c.2245G>T (p.Gly749Cys)
|
rs1060500668
|
0.00001
|
NM_000238.4(KCNH2):c.2254C>T (p.Arg752Trp)
|
rs199472990
|
0.00001
|
NM_000238.4(KCNH2):c.2255G>A (p.Arg752Gln)
|
rs121912512
|
0.00001
|
NM_000238.4(KCNH2):c.2265C>T (p.Ala755=)
|
rs144308070
|
0.00001
|
NM_000238.4(KCNH2):c.2266A>G (p.Met756Val)
|
rs199473534
|
0.00001
|
NM_000238.4(KCNH2):c.2276A>G (p.Lys759Arg)
|
rs1225877255
|
0.00001
|
NM_000238.4(KCNH2):c.2291C>T (p.Pro764Leu)
|
rs878853773
|
0.00001
|
NM_000238.4(KCNH2):c.2292G>A (p.Pro764=)
|
rs766291953
|
0.00001
|
NM_000238.4(KCNH2):c.2316T>C (p.Ala772=)
|
rs1013660810
|
0.00001
|
NM_000238.4(KCNH2):c.2325G>C (p.Leu775=)
|
rs772751748
|
0.00001
|
NM_000238.4(KCNH2):c.2332G>A (p.Ala778Thr)
|
rs769076001
|
0.00001
|
NM_000238.4(KCNH2):c.2350C>T (p.Arg784Trp)
|
rs12720441
|
0.00001
|
NM_000238.4(KCNH2):c.2372G>A (p.Arg791Gln)
|
rs770393669
|
0.00001
|
NM_000238.4(KCNH2):c.2377G>A (p.Asp793Asn)
|
rs781352799
|
0.00001
|
NM_000238.4(KCNH2):c.2379C>T (p.Asp793=)
|
rs147507005
|
0.00001
|
NM_000238.4(KCNH2):c.237C>T (p.Ala79=)
|
rs1060503994
|
0.00001
|
NM_000238.4(KCNH2):c.2380G>A (p.Val794Ile)
|
rs565006344
|
0.00001
|
NM_000238.4(KCNH2):c.2382C>T (p.Val794=)
|
rs777801910
|
0.00001
|
NM_000238.4(KCNH2):c.2385C>T (p.Val795=)
|
rs1161547614
|
0.00001
|
NM_000238.4(KCNH2):c.2399-3C>T
|
rs760014551
|
0.00001
|
NM_000238.4(KCNH2):c.2409C>T (p.Asp803=)
|
rs776830887
|
0.00001
|
NM_000238.4(KCNH2):c.2445T>C (p.Pro815=)
|
rs375147598
|
0.00001
|
NM_000238.4(KCNH2):c.2458G>A (p.Gly820Arg)
|
rs199473001
|
0.00001
|
NM_000238.4(KCNH2):c.2467C>T (p.Arg823Trp)
|
rs199473538
|
0.00001
|
NM_000238.4(KCNH2):c.2486A>C (p.Asp829Ala)
|
rs1210175432
|
0.00001
|
NM_000238.4(KCNH2):c.2530A>G (p.Met844Val)
|
rs754565340
|
0.00001
|
NM_000238.4(KCNH2):c.2547C>T (p.Ser849=)
|
rs543184784
|
0.00001
|
NM_000238.4(KCNH2):c.2565C>G (p.Ser855Arg)
|
rs1229440071
|
0.00001
|
NM_000238.4(KCNH2):c.2588G>A (p.Arg863Gln)
|
rs939435672
|
0.00001
|
NM_000238.4(KCNH2):c.2593-16C>A
|
rs750751517
|
0.00001
|
NM_000238.4(KCNH2):c.2604C>T (p.Ile868=)
|
rs764083249
|
0.00001
|
NM_000238.4(KCNH2):c.2606C>T (p.Pro869Leu)
|
rs763031434
|
0.00001
|
NM_000238.4(KCNH2):c.2612C>T (p.Ser871Phe)
|
rs1177213407
|
0.00001
|
NM_000238.4(KCNH2):c.2660G>A (p.Arg887His)
|
rs199473432
|
0.00001
|
NM_000238.4(KCNH2):c.2673C>T (p.Phe891=)
|
rs776954605
|
0.00001
|
NM_000238.4(KCNH2):c.2680C>T (p.Arg894Cys)
|
rs199473433
|
0.00001
|
NM_000238.4(KCNH2):c.2685G>T (p.Thr895=)
|
rs376008424
|
0.00001
|
NM_000238.4(KCNH2):c.2692+10G>A
|
rs1309224856
|
0.00001
|
NM_000238.4(KCNH2):c.2692+14G>A
|
rs774170513
|
0.00001
|
NM_000238.4(KCNH2):c.2693-5C>T
|
rs1060503992
|
0.00001
|
NM_000238.4(KCNH2):c.26C>T (p.Ala9Val)
|
rs775317201
|
0.00001
|
NM_000238.4(KCNH2):c.2734C>T (p.Arg912Trp)
|
rs577847157
|
0.00001
|
NM_000238.4(KCNH2):c.2764C>T (p.Arg922Trp)
|
rs199473440
|
0.00001
|
NM_000238.4(KCNH2):c.2765G>A (p.Arg922Gln)
|
rs199473439
|
0.00001
|
NM_000238.4(KCNH2):c.276C>T (p.Arg92=)
|
rs753629014
|
0.00001
|
NM_000238.4(KCNH2):c.2778G>A (p.Pro926=)
|
rs898987242
|
0.00001
|
NM_000238.4(KCNH2):c.2783G>A (p.Gly928Glu)
|
rs1339223823
|
0.00001
|
NM_000238.4(KCNH2):c.2788A>C (p.Ser930Arg)
|
rs794728400
|
0.00001
|
NM_000238.4(KCNH2):c.2794T>C (p.Ser932Pro)
|
rs1800966532
|
0.00001
|
NM_000238.4(KCNH2):c.27G>T (p.Ala9=)
|
rs863224336
|
0.00001
|
NM_000238.4(KCNH2):c.2823T>C (p.Ser941=)
|
rs1449358173
|
0.00001
|
NM_000238.4(KCNH2):c.2832G>T (p.Glu944Asp)
|
rs1232364499
|
0.00001
|
NM_000238.4(KCNH2):c.2842C>T (p.Arg948Cys)
|
rs121912514
|
0.00001
|
NM_000238.4(KCNH2):c.2854C>T (p.Pro952Ser)
|
rs753735368
|
0.00001
|
NM_000238.4(KCNH2):c.2861G>A (p.Arg954His)
|
rs772977598
|
0.00001
|
NM_000238.4(KCNH2):c.2893G>A (p.Gly965Arg)
|
rs199473015
|
0.00001
|
NM_000238.4(KCNH2):c.2896G>A (p.Glu966Lys)
|
rs781516287
|
0.00001
|
NM_000238.4(KCNH2):c.2930G>T (p.Cys977Phe)
|
rs767252448
|
0.00001
|
NM_000238.4(KCNH2):c.2954A>G (p.Asn985Ser)
|
rs199473541
|
0.00001
|
NM_000238.4(KCNH2):c.2956C>A (p.Pro986Thr)
|
rs1261949255
|
0.00001
|
NM_000238.4(KCNH2):c.2965+11C>T
|
rs770052290
|
0.00001
|
NM_000238.4(KCNH2):c.2965+12G>A
|
rs755987120
|
0.00001
|
NM_000238.4(KCNH2):c.2965+19_2965+20insA
|
rs1428146449
|
0.00001
|
NM_000238.4(KCNH2):c.2968G>A (p.Ala990Thr)
|
rs754362735
|
0.00001
|
NM_000238.4(KCNH2):c.3003G>C (p.Trp1001Cys)
|
rs121912509
|
0.00001
|
NM_000238.4(KCNH2):c.3013C>T (p.Arg1005Trp)
|
rs1016101226
|
0.00001
|
NM_000238.4(KCNH2):c.3014G>A (p.Arg1005Gln)
|
rs199473019
|
0.00001
|
NM_000238.4(KCNH2):c.3019C>T (p.Arg1007Cys)
|
rs1224504959
|
0.00001
|
NM_000238.4(KCNH2):c.3021C>T (p.Arg1007=)
|
rs781317328
|
0.00001
|
NM_000238.4(KCNH2):c.3040C>T (p.Arg1014Ter)
|
rs794728403
|
0.00001
|
NM_000238.4(KCNH2):c.3044G>A (p.Cys1015Tyr)
|
rs1290300549
|
0.00001
|
NM_000238.4(KCNH2):c.3053C>T (p.Pro1018Leu)
|
rs866657878
|
0.00001
|
NM_000238.4(KCNH2):c.307+14G>A
|
rs763393992
|
0.00001
|
NM_000238.4(KCNH2):c.307+6A>G
|
rs201872229
|
0.00001
|
NM_000238.4(KCNH2):c.3079C>A (p.Leu1027Ile)
|
rs794728346
|
0.00001
|
NM_000238.4(KCNH2):c.3081C>T (p.Leu1027=)
|
rs1438907234
|
0.00001
|
NM_000238.4(KCNH2):c.3095G>A (p.Arg1032Gln)
|
rs199473020
|
0.00001
|
NM_000238.4(KCNH2):c.3118A>G (p.Ser1040Gly)
|
rs199473024
|
0.00001
|
NM_000238.4(KCNH2):c.3170G>A (p.Ser1057Asn)
|
rs765524161
|
0.00001
|
NM_000238.4(KCNH2):c.3171T>G (p.Ser1057Arg)
|
rs1363636593
|
0.00001
|
NM_000238.4(KCNH2):c.3172G>A (p.Ala1058Thr)
|
rs555269990
|
0.00001
|
NM_000238.4(KCNH2):c.3211A>G (p.Met1071Val)
|
rs555797304
|
0.00001
|
NM_000238.4(KCNH2):c.3215C>T (p.Thr1072Met)
|
rs781624566
|
0.00001
|
NM_000238.4(KCNH2):c.3251C>T (p.Pro1084Leu)
|
rs762510312
|
0.00001
|
NM_000238.4(KCNH2):c.3266C>T (p.Thr1089Ile)
|
rs1009829215
|
0.00001
|
NM_000238.4(KCNH2):c.3276C>T (p.Ser1092=)
|
rs776100082
|
0.00001
|
NM_000238.4(KCNH2):c.3288C>T (p.Pro1096=)
|
rs748606749
|
0.00001
|
NM_000238.4(KCNH2):c.3294C>G (p.Ser1098Arg)
|
rs1203403811
|
0.00001
|
NM_000238.4(KCNH2):c.3296C>T (p.Pro1099Leu)
|
rs1339742380
|
0.00001
|
NM_000238.4(KCNH2):c.3314T>C (p.Leu1105Ser)
|
rs757147615
|
0.00001
|
NM_000238.4(KCNH2):c.3320C>T (p.Ser1107Leu)
|
rs1303580599
|
0.00001
|
NM_000238.4(KCNH2):c.3331-20A>G
|
rs1471394428
|
0.00001
|
NM_000238.4(KCNH2):c.3343A>G (p.Met1115Val)
|
rs199473546
|
0.00001
|
NM_000238.4(KCNH2):c.3355G>C (p.Glu1119Gln)
|
rs199473033
|
0.00001
|
NM_000238.4(KCNH2):c.3373C>G (p.Pro1125Ala)
|
rs1159352279
|
0.00001
|
NM_000238.4(KCNH2):c.3392G>T (p.Gly1131Val)
|
rs370558996
|
0.00001
|
NM_000238.4(KCNH2):c.3394C>G (p.Pro1132Ala)
|
rs786205422
|
0.00001
|
NM_000238.4(KCNH2):c.3399A>G (p.Thr1133=)
|
rs746102465
|
0.00001
|
NM_000238.4(KCNH2):c.3400C>T (p.Arg1134Ter)
|
rs965259777
|
0.00001
|
NM_000238.4(KCNH2):c.3403C>T (p.Arg1135Cys)
|
rs781369850
|
0.00001
|
NM_000238.4(KCNH2):c.3404G>A (p.Arg1135His)
|
rs199473547
|
0.00001
|
NM_000238.4(KCNH2):c.3414A>T (p.Leu1138=)
|
rs1457023483
|
0.00001
|
NM_000238.4(KCNH2):c.3416C>T (p.Pro1139Leu)
|
rs886062086
|
0.00001
|
NM_000238.4(KCNH2):c.343G>A (p.Val115Met)
|
rs150988911
|
0.00001
|
NM_000238.4(KCNH2):c.3448C>A (p.Leu1150Met)
|
rs754883792
|
0.00001
|
NM_000238.4(KCNH2):c.3453C>A (p.His1151Gln)
|
rs531426751
|
0.00001
|
NM_000238.4(KCNH2):c.3469C>T (p.Pro1157Ser)
|
rs1449906095
|
0.00001
|
NM_000238.4(KCNH2):c.3471G>A (p.Pro1157=)
|
rs562609392
|
0.00001
|
NM_000238.4(KCNH2):c.3471G>C (p.Pro1157=)
|
rs562609392
|
0.00001
|
NM_000238.4(KCNH2):c.352G>A (p.Glu118Lys)
|
rs746600107
|
0.00001
|
NM_000238.4(KCNH2):c.362C>T (p.Ala121Val)
|
rs1339973416
|
0.00001
|
NM_000238.4(KCNH2):c.36C>T (p.Asn12=)
|
rs372029645
|
0.00001
|
NM_000238.4(KCNH2):c.387C>T (p.Phe129=)
|
rs764831888
|
0.00001
|
NM_000238.4(KCNH2):c.38C>A (p.Thr13Asn)
|
rs758978727
|
0.00001
|
NM_000238.4(KCNH2):c.416G>C (p.Gly139Ala)
|
rs1451114925
|
0.00001
|
NM_000238.4(KCNH2):c.421C>T (p.Pro141Ser)
|
rs1563172835
|
0.00001
|
NM_000238.4(KCNH2):c.423G>A (p.Pro141=)
|
rs148483769
|
0.00001
|
NM_000238.4(KCNH2):c.424G>A (p.Ala142Thr)
|
rs767514448
|
0.00001
|
NM_000238.4(KCNH2):c.449C>T (p.Pro150Leu)
|
rs866485757
|
0.00001
|
NM_000238.4(KCNH2):c.453C>G (p.Pro151=)
|
rs1408538509
|
0.00001
|
NM_000238.4(KCNH2):c.455C>G (p.Thr152Ser)
|
rs794728354
|
0.00001
|
NM_000238.4(KCNH2):c.473-15T>G
|
rs1461571667
|
0.00001
|
NM_000238.4(KCNH2):c.473-5C>T
|
rs1181633993
|
0.00001
|
NM_000238.4(KCNH2):c.473-6C>T
|
rs751673669
|
0.00001
|
NM_000238.4(KCNH2):c.476G>A (p.Arg159His)
|
rs1016201425
|
0.00001
|
NM_000238.4(KCNH2):c.477C>T (p.Arg159=)
|
rs1271822540
|
0.00001
|
NM_000238.4(KCNH2):c.478G>T (p.Ala160Ser)
|
rs1210130846
|
0.00001
|
NM_000238.4(KCNH2):c.486C>T (p.Thr162=)
|
rs1563171221
|
0.00001
|
NM_000238.4(KCNH2):c.517C>T (p.Leu173=)
|
rs1031238925
|
0.00001
|
NM_000238.4(KCNH2):c.527G>A (p.Arg176Gln)
|
rs1164359840
|
0.00001
|
NM_000238.4(KCNH2):c.549C>T (p.Gly183=)
|
rs1178361948
|
0.00001
|
NM_000238.4(KCNH2):c.563C>T (p.Ala188Val)
|
rs794728356
|
0.00001
|
NM_000238.4(KCNH2):c.564G>A (p.Ala188=)
|
rs1339115530
|
0.00001
|
NM_000238.4(KCNH2):c.578C>T (p.Ala193Val)
|
rs908821172
|
0.00001
|
NM_000238.4(KCNH2):c.579C>T (p.Ala193=)
|
rs778362419
|
0.00001
|
NM_000238.4(KCNH2):c.589G>A (p.Asp197Asn)
|
rs1396987764
|
0.00001
|
NM_000238.4(KCNH2):c.613C>T (p.Pro205Ser)
|
rs939574819
|
0.00001
|
NM_000238.4(KCNH2):c.640G>A (p.Glu214Lys)
|
rs764251922
|
0.00001
|
NM_000238.4(KCNH2):c.652A>G (p.Met218Val)
|
rs199472869
|
0.00001
|
NM_000238.4(KCNH2):c.675C>T (p.Leu225=)
|
rs760401552
|
0.00001
|
NM_000238.4(KCNH2):c.683C>T (p.Ala228Val)
|
rs1184559298
|
0.00001
|
NM_000238.4(KCNH2):c.692G>A (p.Arg231Gln)
|
rs1383803455
|
0.00001
|
NM_000238.4(KCNH2):c.695G>C (p.Arg232Pro)
|
rs886039160
|
0.00001
|
NM_000238.4(KCNH2):c.699G>A (p.Ala233=)
|
rs1242612823
|
0.00001
|
NM_000238.4(KCNH2):c.712G>A (p.Gly238Ser)
|
rs199473501
|
0.00001
|
NM_000238.4(KCNH2):c.719C>T (p.Pro240Leu)
|
rs794728359
|
0.00001
|
NM_000238.4(KCNH2):c.735C>A (p.Pro245=)
|
rs1361757645
|
0.00001
|
NM_000238.4(KCNH2):c.736G>T (p.Gly246Cys)
|
rs1057520689
|
0.00001
|
NM_000238.4(KCNH2):c.740A>G (p.Gln247Arg)
|
rs1271246335
|
0.00001
|
NM_000238.4(KCNH2):c.769A>C (p.Asn257His)
|
rs199472875
|
0.00001
|
NM_000238.4(KCNH2):c.77-13C>T
|
rs771793839
|
0.00001
|
NM_000238.4(KCNH2):c.773C>T (p.Pro258Leu)
|
rs1367019959
|
0.00001
|
NM_000238.4(KCNH2):c.774C>G (p.Pro258=)
|
rs1554427740
|
0.00001
|
NM_000238.4(KCNH2):c.775G>A (p.Asp259Asn)
|
rs199472876
|
0.00001
|
NM_000238.4(KCNH2):c.778G>C (p.Ala260Pro)
|
rs1220897906
|
0.00001
|
NM_000238.4(KCNH2):c.779C>T (p.Ala260Val)
|
rs1228602666
|
0.00001
|
NM_000238.4(KCNH2):c.797G>T (p.Ser266Ile)
|
rs1417121762
|
0.00001
|
NM_000238.4(KCNH2):c.803C>A (p.Ala268Asp)
|
rs1241943196
|
0.00001
|
NM_000238.4(KCNH2):c.810G>A (p.Thr270=)
|
rs1801443154
|
0.00001
|
NM_000238.4(KCNH2):c.819A>T (p.Arg273=)
|
rs1398180335
|
0.00001
|
NM_000238.4(KCNH2):c.830C>A (p.Ala277Asp)
|
rs199472878
|
0.00001
|
NM_000238.4(KCNH2):c.853G>A (p.Ala285Thr)
|
rs864622366
|
0.00001
|
NM_000238.4(KCNH2):c.858C>T (p.Asp286=)
|
rs1250999461
|
0.00001
|
NM_000238.4(KCNH2):c.867G>A (p.Glu289=)
|
rs1247786599
|
0.00001
|
NM_000238.4(KCNH2):c.877G>A (p.Ala293Thr)
|
rs794728362
|
0.00001
|
NM_000238.4(KCNH2):c.879C>T (p.Ala293=)
|
rs987421968
|
0.00001
|
NM_000238.4(KCNH2):c.916+16G>C
|
rs1329078306
|
0.00001
|
NM_000238.4(KCNH2):c.917-18C>T
|
rs1057520866
|
0.00001
|
NM_000238.4(KCNH2):c.925C>T (p.His309Tyr)
|
rs1241849013
|
0.00001
|
NM_000238.4(KCNH2):c.927C>G (p.His309Gln)
|
rs775056804
|
0.00001
|
NM_000238.4(KCNH2):c.930A>G (p.Pro310=)
|
rs745496986
|
0.00001
|
NM_000238.4(KCNH2):c.935G>A (p.Arg312His)
|
rs747313232
|
0.00001
|
NM_000238.4(KCNH2):c.950A>G (p.Asn317Ser)
|
rs779027664
|
0.00001
|
NM_000238.4(KCNH2):c.957C>T (p.Thr319=)
|
rs759130424
|
0.00001
|
NM_000238.4(KCNH2):c.961G>T (p.Asp321Tyr)
|
rs886062089
|
0.00001
|
NM_000238.4(KCNH2):c.966C>T (p.Ser322=)
|
rs200290864
|
0.00001
|
NM_000238.4(KCNH2):c.969C>T (p.Asp323=)
|
rs762912817
|
0.00001
|
NM_000238.4(KCNH2):c.972C>T (p.Leu324=)
|
rs146297032
|
0.00001
|
NM_000238.4(KCNH2):c.976C>T (p.Arg326Cys)
|
rs759079349
|
0.00001
|
NM_000238.4(KCNH2):c.977G>A (p.Arg326His)
|
rs1187921286
|
0.00001
|
NM_000238.4(KCNH2):c.987C>G (p.Thr329=)
|
rs544461554
|
0.00001
|
NM_000238.4(KCNH2):c.990T>C (p.Ile330=)
|
rs748711437
|
0.00001
|
NM_000719.7(CACNA1C):c.1023C>T (p.His341=)
|
rs375785714
|
0.00001
|
NM_000719.7(CACNA1C):c.1026C>T (p.Gly342=)
|
rs752842357
|
0.00001
|
NM_000719.7(CACNA1C):c.1032C>G (p.Thr344=)
|
rs760916463
|
0.00001
|
NM_000719.7(CACNA1C):c.108G>A (p.Ala36=)
|
rs781395450
|
0.00001
|
NM_000719.7(CACNA1C):c.1097C>T (p.Thr366Met)
|
rs1429990170
|
0.00001
|
NM_000719.7(CACNA1C):c.1098G>A (p.Thr366=)
|
rs372622798
|
0.00001
|
NM_000719.7(CACNA1C):c.1101C>T (p.Asp367=)
|
rs746525111
|
0.00001
|
NM_000719.7(CACNA1C):c.1107G>A (p.Leu369=)
|
rs1021674676
|
0.00001
|
NM_000719.7(CACNA1C):c.1113+4C>T
|
rs747800763
|
0.00001
|
NM_000719.7(CACNA1C):c.1114-294A>G
|
rs368509650
|
0.00001
|
NM_000719.7(CACNA1C):c.1114-417C>T
|
rs746270394
|
0.00001
|
NM_000719.7(CACNA1C):c.114G>A (p.Leu38=)
|
rs1261325615
|
0.00001
|
NM_000719.7(CACNA1C):c.1215C>T (p.Ser405=)
|
rs780409021
|
0.00001
|
NM_000719.7(CACNA1C):c.1217+10A>C
|
rs751874167
|
0.00001
|
NM_000719.7(CACNA1C):c.1218-20C>T
|
rs1463763114
|
0.00001
|
NM_000719.7(CACNA1C):c.1218-8C>G
|
rs1306278750
|
0.00001
|
NM_000719.7(CACNA1C):c.1227C>T (p.Ser409=)
|
rs753412341
|
0.00001
|
NM_000719.7(CACNA1C):c.122A>T (p.Glu41Val)
|
rs1451260431
|
0.00001
|
NM_000719.7(CACNA1C):c.1242G>A (p.Lys414=)
|
rs764828828
|
0.00001
|
NM_000719.7(CACNA1C):c.1251C>T (p.Ala417=)
|
rs751902029
|
0.00001
|
NM_000719.7(CACNA1C):c.130C>G (p.Pro44Ala)
|
rs1057518456
|
0.00001
|
NM_000719.7(CACNA1C):c.132C>T (p.Pro44=)
|
rs770183452
|
0.00001
|
NM_000719.7(CACNA1C):c.1333G>A (p.Glu445Lys)
|
rs1238581042
|
0.00001
|
NM_000719.7(CACNA1C):c.1356G>A (p.Glu452=)
|
rs1257737700
|
0.00001
|
NM_000719.7(CACNA1C):c.1360G>A (p.Glu454Lys)
|
rs775414849
|
0.00001
|
NM_000719.7(CACNA1C):c.137C>T (p.Pro46Leu)
|
rs770830796
|
0.00001
|
NM_000719.7(CACNA1C):c.1383C>T (p.Pro461=)
|
rs2099788030
|
0.00001
|
NM_000719.7(CACNA1C):c.1384C>G (p.Arg462Gly)
|
rs761430418
|
0.00001
|
NM_000719.7(CACNA1C):c.138G>A (p.Pro46=)
|
rs774165120
|
0.00001
|
NM_000719.7(CACNA1C):c.1390+13C>G
|
rs1445102448
|
0.00001
|
NM_000719.7(CACNA1C):c.1390+19C>T
|
rs1408914166
|
0.00001
|
NM_000719.7(CACNA1C):c.1397T>C (p.Met466Thr)
|
rs769782016
|
0.00001
|
NM_000719.7(CACNA1C):c.1413C>T (p.Thr471=)
|
rs748856976
|
0.00001
|
NM_000719.7(CACNA1C):c.1414G>A (p.Glu472Lys)
|
rs770480382
|
0.00001
|
NM_000719.7(CACNA1C):c.1420G>A (p.Val474Ile)
|
rs765581751
|
0.00001
|
NM_000719.7(CACNA1C):c.1428C>T (p.Thr476=)
|
rs750843602
|
0.00001
|
NM_000719.7(CACNA1C):c.1429G>A (p.Glu477Lys)
|
rs762162937
|
0.00001
|
NM_000719.7(CACNA1C):c.1435G>A (p.Val479Met)
|
rs752677964
|
0.00001
|
NM_000719.7(CACNA1C):c.1441G>A (p.Gly481Arg)
|
rs552477608
|
0.00001
|
NM_000719.7(CACNA1C):c.1452C>T (p.Ile484=)
|
rs1432858631
|
0.00001
|
NM_000719.7(CACNA1C):c.1453G>A (p.Glu485Lys)
|
rs763065970
|
0.00001
|
NM_000719.7(CACNA1C):c.1481+13G>A
|
rs375265901
|
0.00001
|
NM_000719.7(CACNA1C):c.1481C>T (p.Ala494Val)
|
rs762879256
|
0.00001
|
NM_000719.7(CACNA1C):c.1508+16G>A
|
rs1358258790
|
0.00001
|
NM_000719.7(CACNA1C):c.1510C>T (p.Arg504Cys)
|
rs370634418
|
0.00001
|
NM_000719.7(CACNA1C):c.1516T>G (p.Trp506Gly)
|
rs975289385
|
0.00001
|
NM_000719.7(CACNA1C):c.1522C>T (p.Arg508Trp)
|
rs776805699
|
0.00001
|
NM_000719.7(CACNA1C):c.153G>A (p.Ser51=)
|
rs563315606
|
0.00001
|
NM_000719.7(CACNA1C):c.1553G>A (p.Arg518His)
|
rs1057517711
|
0.00001
|
NM_000719.7(CACNA1C):c.1578C>T (p.Phe526=)
|
rs752386939
|
0.00001
|
NM_000719.7(CACNA1C):c.1599G>A (p.Leu533=)
|
rs376618291
|
0.00001
|
NM_000719.7(CACNA1C):c.1614G>A (p.Thr538=)
|
rs747593586
|
0.00001
|
NM_000719.7(CACNA1C):c.162G>A (p.Ala54=)
|
rs760297846
|
0.00001
|
NM_000719.7(CACNA1C):c.1669+9C>T
|
rs1275252257
|
0.00001
|
NM_000719.7(CACNA1C):c.1670-14C>T
|
rs1184132854
|
0.00001
|
NM_000719.7(CACNA1C):c.1670-15T>C
|
rs1479929744
|
0.00001
|
NM_000719.7(CACNA1C):c.168C>T (p.Ile56=)
|
rs763760402
|
0.00001
|
NM_000719.7(CACNA1C):c.169G>A (p.Asp57Asn)
|
rs773528195
|
0.00001
|
NM_000719.7(CACNA1C):c.1703C>T (p.Thr568Met)
|
rs749561588
|
0.00001
|
NM_000719.7(CACNA1C):c.1704G>A (p.Thr568=)
|
rs770625734
|
0.00001
|
NM_000719.7(CACNA1C):c.1716C>T (p.Leu572=)
|
rs745728974
|
0.00001
|
NM_000719.7(CACNA1C):c.1749C>T (p.Tyr583=)
|
rs375155518
|
0.00001
|
NM_000719.7(CACNA1C):c.1752C>T (p.Phe584=)
|
rs886043677
|
0.00001
|
NM_000719.7(CACNA1C):c.1768C>T (p.Arg590Cys)
|
rs776145143
|
0.00001
|
NM_000719.7(CACNA1C):c.1786G>A (p.Val596Met)
|
rs768034509
|
0.00001
|
NM_000719.7(CACNA1C):c.1800C>T (p.Ile600=)
|
rs1057523219
|
0.00001
|
NM_000719.7(CACNA1C):c.1806G>A (p.Glu602=)
|
rs775181288
|
0.00001
|
NM_000719.7(CACNA1C):c.1864G>A (p.Val622Ile)
|
rs768270021
|
0.00001
|
NM_000719.7(CACNA1C):c.1893G>A (p.Thr631=)
|
rs1252210096
|
0.00001
|
NM_000719.7(CACNA1C):c.1905C>T (p.Asn635=)
|
rs768640848
|
0.00001
|
NM_000719.7(CACNA1C):c.1946G>A (p.Arg649His)
|
rs786205777
|
0.00001
|
NM_000719.7(CACNA1C):c.1989C>T (p.Ile663=)
|
rs1453566638
|
0.00001
|
NM_000719.7(CACNA1C):c.2045T>C (p.Met682Thr)
|
rs1429541061
|
0.00001
|
NM_000719.7(CACNA1C):c.2068G>A (p.Asp690Asn)
|
rs369638898
|
0.00001
|
NM_000719.7(CACNA1C):c.2073C>T (p.Asn691=)
|
rs794727117
|
0.00001
|
NM_000719.7(CACNA1C):c.209A>G (p.Asn70Ser)
|
rs1265762175
|
0.00001
|
NM_000719.7(CACNA1C):c.2103+20G>A
|
rs543434844
|
0.00001
|
NM_000719.7(CACNA1C):c.2103+8C>T
|
rs574529871
|
0.00001
|
NM_000719.7(CACNA1C):c.2112C>T (p.Thr704=)
|
rs766729384
|
0.00001
|
NM_000719.7(CACNA1C):c.2208C>T (p.Leu736=)
|
rs756015892
|
0.00001
|
NM_000719.7(CACNA1C):c.2220A>G (p.Gly740=)
|
rs940854113
|
0.00001
|
NM_000719.7(CACNA1C):c.2224+18C>A
|
rs1179653920
|
0.00001
|
NM_000719.7(CACNA1C):c.225A>C (p.Thr75=)
|
rs756361032
|
0.00001
|
NM_000719.7(CACNA1C):c.2277T>C (p.Ala759=)
|
rs756036003
|
0.00001
|
NM_000719.7(CACNA1C):c.2314G>A (p.Glu772Lys)
|
rs1361366772
|
0.00001
|
NM_000719.7(CACNA1C):c.2339+6C>T
|
rs1030265969
|
0.00001
|
NM_000719.7(CACNA1C):c.2368T>C (p.Leu790=)
|
rs1184185290
|
0.00001
|
NM_000719.7(CACNA1C):c.236C>T (p.Thr79Met)
|
rs749031775
|
0.00001
|
NM_000719.7(CACNA1C):c.2381C>T (p.Pro794Leu)
|
rs771393283
|
0.00001
|
NM_000719.7(CACNA1C):c.2387T>G (p.Val796Gly)
|
rs1277492029
|
0.00001
|
NM_000719.7(CACNA1C):c.2390G>C (p.Gly797Ala)
|
rs1200916501
|
0.00001
|
NM_000719.7(CACNA1C):c.2395T>A (p.Ser799Thr)
|
rs749753740
|
0.00001
|
NM_000719.7(CACNA1C):c.2398A>C (p.Lys800Gln)
|
rs779009338
|
0.00001
|
NM_000719.7(CACNA1C):c.2403G>A (p.Glu801=)
|
rs1393294693
|
0.00001
|
NM_000719.7(CACNA1C):c.2427C>T (p.Ile809=)
|
rs886038904
|
0.00001
|
NM_000719.7(CACNA1C):c.2430G>A (p.Thr810=)
|
rs775571017
|
0.00001
|
NM_000719.7(CACNA1C):c.2451C>T (p.Pro817=)
|
rs1257316721
|
0.00001
|
NM_000719.7(CACNA1C):c.2452G>A (p.Ala818Thr)
|
rs765111782
|
0.00001
|
NM_000719.7(CACNA1C):c.2457C>G (p.Thr819=)
|
rs1458943435
|
0.00001
|
NM_000719.7(CACNA1C):c.247C>T (p.Arg83Trp)
|
rs886039214
|
0.00001
|
NM_000719.7(CACNA1C):c.2493T>C (p.Asn831=)
|
rs571245393
|
0.00001
|
NM_000719.7(CACNA1C):c.2506C>T (p.Pro836Ser)
|
rs1042919299
|
0.00001
|
NM_000719.7(CACNA1C):c.2517C>A (p.Asn839Lys)
|
rs774002530
|
0.00001
|
NM_000719.7(CACNA1C):c.2531-7C>T
|
rs1382973630
|
0.00001
|
NM_000719.7(CACNA1C):c.2545G>A (p.Glu849Lys)
|
rs370446470
|
0.00001
|
NM_000719.7(CACNA1C):c.2547G>A (p.Glu849=)
|
rs759093479
|
0.00001
|
NM_000719.7(CACNA1C):c.2563G>A (p.Val855Ile)
|
rs543555345
|
0.00001
|
NM_000719.7(CACNA1C):c.2565C>T (p.Val855=)
|
rs760390307
|
0.00001
|
NM_000719.7(CACNA1C):c.2572C>T (p.Arg858Cys)
|
rs1409860214
|
0.00001
|
NM_000719.7(CACNA1C):c.2579G>A (p.Arg860Gln)
|
rs730880056
|
0.00001
|
NM_000719.7(CACNA1C):c.257A>G (p.Tyr86Cys)
|
rs768230910
|
0.00001
|
NM_000719.7(CACNA1C):c.2606A>G (p.Glu869Gly)
|
rs755043734
|
0.00001
|
NM_000719.7(CACNA1C):c.2610G>A (p.Lys870=)
|
rs1030242284
|
0.00001
|
NM_000719.7(CACNA1C):c.2619C>T (p.Pro873=)
|
rs374481837
|
0.00001
|
NM_000719.7(CACNA1C):c.2664-11C>G
|
rs767514995
|
0.00001
|
NM_000719.7(CACNA1C):c.2670C>T (p.Arg890=)
|
rs778866775
|
0.00001
|
NM_000719.7(CACNA1C):c.2700G>A (p.Thr900=)
|
rs200717140
|
0.00001
|
NM_000719.7(CACNA1C):c.2757T>C (p.Ala919=)
|
rs1474150842
|
0.00001
|
NM_000719.7(CACNA1C):c.275A>C (p.Gln92Pro)
|
rs766650940
|
0.00001
|
NM_000719.7(CACNA1C):c.2760G>A (p.Glu920=)
|
rs1156871556
|
0.00001
|
NM_000719.7(CACNA1C):c.2792A>G (p.His931Arg)
|
rs1170410162
|
0.00001
|
NM_000719.7(CACNA1C):c.2793+10G>A
|
rs587780877
|
0.00001
|
NM_000719.7(CACNA1C):c.2837T>C (p.Ile946Thr)
|
rs747728381
|
0.00001
|
NM_000719.7(CACNA1C):c.2853+8C>A
|
rs769463930
|
0.00001
|
NM_000719.7(CACNA1C):c.2854-10C>G
|
rs767334396
|
0.00001
|
NM_000719.7(CACNA1C):c.287C>T (p.Thr96Met)
|
rs1177984976
|
0.00001
|
NM_000719.7(CACNA1C):c.299C>T (p.Pro100Leu)
|
rs1398341239
|
0.00001
|
NM_000719.7(CACNA1C):c.2T>C (p.Met1Thr)
|
rs761378545
|
0.00001
|
NM_000719.7(CACNA1C):c.3048+19T>C
|
rs368017840
|
0.00001
|
NM_000719.7(CACNA1C):c.3048G>A (p.Lys1016=)
|
rs777948170
|
0.00001
|
NM_000719.7(CACNA1C):c.3049-18C>T
|
rs764862438
|
0.00001
|
NM_000719.7(CACNA1C):c.3060G>A (p.Gln1020=)
|
rs115017320
|
0.00001
|
NM_000719.7(CACNA1C):c.3075C>T (p.Ala1025=)
|
rs375813950
|
0.00001
|
NM_000719.7(CACNA1C):c.3087C>T (p.Ile1029=)
|
rs151211423
|
0.00001
|
NM_000719.7(CACNA1C):c.3093C>T (p.Asn1031=)
|
rs775739185
|
0.00001
|
NM_000719.7(CACNA1C):c.3096C>T (p.Ile1032=)
|
rs917266570
|
0.00001
|
NM_000719.7(CACNA1C):c.313C>T (p.Leu105Phe)
|
rs778550818
|
0.00001
|
NM_000719.7(CACNA1C):c.3156+20G>C
|
rs751966602
|
0.00001
|
NM_000719.7(CACNA1C):c.3157-16G>C
|
rs770629047
|
0.00001
|
NM_000719.7(CACNA1C):c.3161A>G (p.Lys1054Arg)
|
rs1305965146
|
0.00001
|
NM_000719.7(CACNA1C):c.3168C>T (p.Tyr1056=)
|
rs1344307413
|
0.00001
|
NM_000719.7(CACNA1C):c.3210-15C>T
|
rs1160881733
|
0.00001
|
NM_000719.7(CACNA1C):c.3210-3C>T
|
rs750874261
|
0.00001
|
NM_000719.7(CACNA1C):c.3210-5C>A
|
rs373331407
|
0.00001
|
NM_000719.7(CACNA1C):c.3220A>G (p.Ile1074Val)
|
rs786205779
|
0.00001
|
NM_000719.7(CACNA1C):c.3225G>A (p.Thr1075=)
|
rs1229921966
|
0.00001
|
NM_000719.7(CACNA1C):c.3235G>A (p.Gly1079Arg)
|
rs781440831
|
0.00001
|
NM_000719.7(CACNA1C):c.3246C>T (p.Asp1082=)
|
rs370662635
|
0.00001
|
NM_000719.7(CACNA1C):c.3258C>T (p.Ile1086=)
|
rs757290350
|
0.00001
|
NM_000719.7(CACNA1C):c.3294T>C (p.Phe1098=)
|
rs745340145
|
0.00001
|
NM_000719.7(CACNA1C):c.3303T>C (p.Val1101=)
|
rs760313875
|
0.00001
|
NM_000719.7(CACNA1C):c.3331G>A (p.Val1111Ile)
|
rs766023530
|
0.00001
|
NM_000719.7(CACNA1C):c.3342C>T (p.Phe1114=)
|
rs1238999546
|
0.00001
|
NM_000719.7(CACNA1C):c.3356+10C>T
|
rs2075722266
|
0.00001
|
NM_000719.7(CACNA1C):c.3357-3C>T
|
rs757159281
|
0.00001
|
NM_000719.7(CACNA1C):c.3357-9C>T
|
rs2076295735
|
0.00001
|
NM_000719.7(CACNA1C):c.3363G>A (p.Leu1121=)
|
rs778991232
|
0.00001
|
NM_000719.7(CACNA1C):c.3372C>T (p.Ser1124=)
|
rs757869704
|
0.00001
|
NM_000719.7(CACNA1C):c.3375C>T (p.Ile1125=)
|
rs398123521
|
0.00001
|
NM_000719.7(CACNA1C):c.3391G>A (p.Asp1131Asn)
|
rs776318939
|
0.00001
|
NM_000719.7(CACNA1C):c.3416G>A (p.Arg1139His)
|
rs1373685560
|
0.00001
|
NM_000719.7(CACNA1C):c.3459C>T (p.Ile1153=)
|
rs374850501
|
0.00001
|
NM_000719.7(CACNA1C):c.3489C>G (p.Gly1163=)
|
rs1057522786
|
0.00001
|
NM_000719.7(CACNA1C):c.3498C>T (p.Ile1166=)
|
rs201147949
|
0.00001
|
NM_000719.7(CACNA1C):c.3556C>G (p.Gln1186Glu)
|
rs890686445
|
0.00001
|
NM_000719.7(CACNA1C):c.3558+10dup
|
rs1555884916
|
0.00001
|
NM_000719.7(CACNA1C):c.3560G>A (p.Arg1187Gln)
|
rs368861681
|
0.00001
|
NM_000719.7(CACNA1C):c.3568G>T (p.Val1190Leu)
|
rs1048241141
|
0.00001
|
NM_000719.7(CACNA1C):c.356G>A (p.Ser119Asn)
|
rs1220725707
|
0.00001
|
NM_000719.7(CACNA1C):c.3570G>T (p.Val1190=)
|
rs1182990232
|
0.00001
|
NM_000719.7(CACNA1C):c.3576C>T (p.Tyr1192=)
|
rs376481211
|
0.00001
|
NM_000719.7(CACNA1C):c.3590G>A (p.Arg1197Gln)
|
rs1474032393
|
0.00001
|
NM_000719.7(CACNA1C):c.3599G>A (p.Arg1200Gln)
|
rs369686855
|
0.00001
|
NM_000719.7(CACNA1C):c.363C>T (p.Val121=)
|
rs886042281
|
0.00001
|
NM_000719.7(CACNA1C):c.3663C>T (p.Phe1221=)
|
rs369646222
|
0.00001
|
NM_000719.7(CACNA1C):c.366A>G (p.Glu122=)
|
rs1350789310
|
0.00001
|
NM_000719.7(CACNA1C):c.3681C>T (p.Val1227=)
|
rs886049204
|
0.00001
|
NM_000719.7(CACNA1C):c.3717+4A>G
|
rs1184709095
|
0.00001
|
NM_000719.7(CACNA1C):c.3718-10C>A
|
rs2078011532
|
0.00001
|
NM_000719.7(CACNA1C):c.3718-3C>T
|
rs1267424726
|
0.00001
|
NM_000719.7(CACNA1C):c.3723C>T (p.Tyr1241=)
|
rs377686760
|
0.00001
|
NM_000719.7(CACNA1C):c.3762C>T (p.Leu1254=)
|
rs781762504
|
0.00001
|
NM_000719.7(CACNA1C):c.3764A>G (p.Asn1255Ser)
|
rs2078031779
|
0.00001
|
NM_000719.7(CACNA1C):c.3790G>A (p.Val1264Met)
|
rs760543068
|
0.00001
|
NM_000719.7(CACNA1C):c.3828+6C>T
|
rs1060503449
|
0.00001
|
NM_000719.7(CACNA1C):c.3829-16G>T
|
rs374295746
|
0.00001
|
NM_000719.7(CACNA1C):c.3829-18C>T
|
rs541705112
|
0.00001
|
NM_000719.7(CACNA1C):c.3829-428C>T
|
rs1470846177
|
0.00001
|
NM_000719.7(CACNA1C):c.3874G>T (p.Val1292Leu)
|
rs777138966
|
0.00001
|
NM_000719.7(CACNA1C):c.3949G>A (p.Ala1317Thr)
|
rs749588699
|
0.00001
|
NM_000719.7(CACNA1C):c.3978C>T (p.Thr1326=)
|
rs1022346720
|
0.00001
|
NM_000719.7(CACNA1C):c.4017G>A (p.Leu1339=)
|
rs772214847
|
0.00001
|
NM_000719.7(CACNA1C):c.4040G>A (p.Arg1347Gln)
|
rs777058699
|
0.00001
|
NM_000719.7(CACNA1C):c.4074+6C>T
|
rs762974366
|
0.00001
|
NM_000719.7(CACNA1C):c.4074+7G>A
|
rs765822946
|
0.00001
|
NM_000719.7(CACNA1C):c.4078C>T (p.Leu1360=)
|
rs752125137
|
0.00001
|
NM_000719.7(CACNA1C):c.410A>G (p.Asn137Ser)
|
rs1242329478
|
0.00001
|
NM_000719.7(CACNA1C):c.4117A>G (p.Ile1373Val)
|
rs1272308907
|
0.00001
|
NM_000719.7(CACNA1C):c.4131C>T (p.Ile1377=)
|
rs770774627
|
0.00001
|
NM_000719.7(CACNA1C):c.4141-4C>T
|
rs745757052
|
0.00001
|
NM_000719.7(CACNA1C):c.4215C>T (p.Ala1405=)
|
rs768068080
|
0.00001
|
NM_000719.7(CACNA1C):c.4224C>T (p.Leu1408=)
|
rs1476420888
|
0.00001
|
NM_000719.7(CACNA1C):c.4232+16C>A
|
rs757493608
|
0.00001
|
NM_000719.7(CACNA1C):c.4232+18T>C
|
rs779157902
|
0.00001
|
NM_000719.7(CACNA1C):c.4232+4G>A
|
rs550612732
|
0.00001
|
NM_000719.7(CACNA1C):c.42C>T (p.Asn14=)
|
rs778173570
|
0.00001
|
NM_000719.7(CACNA1C):c.4305C>T (p.Ser1435=)
|
rs756717724
|
0.00001
|
NM_000719.7(CACNA1C):c.4323G>A (p.Thr1441=)
|
rs753892795
|
0.00001
|
NM_000719.7(CACNA1C):c.4369A>G (p.Ile1457Val)
|
rs781315664
|
0.00001
|
NM_000719.7(CACNA1C):c.4380C>T (p.Tyr1460=)
|
rs747654175
|
0.00001
|
NM_000719.7(CACNA1C):c.4381A>G (p.Met1461Val)
|
rs200206894
|
0.00001
|
NM_000719.7(CACNA1C):c.4398+18T>G
|
rs370864993
|
0.00001
|
NM_000719.7(CACNA1C):c.4399-16G>T
|
rs1327545993
|
0.00001
|
NM_000719.7(CACNA1C):c.4399-20C>T
|
rs763105882
|
0.00001
|
NM_000719.7(CACNA1C):c.4440C>T (p.Asp1480=)
|
rs1355078427
|
0.00001
|
NM_000719.7(CACNA1C):c.4527-6T>A
|
rs1239248123
|
0.00001
|
NM_000719.7(CACNA1C):c.4558C>G (p.Leu1520Val)
|
rs1032623545
|
0.00001
|
NM_000719.7(CACNA1C):c.4577C>T (p.Pro1526Leu)
|
rs2096135811
|
0.00001
|
NM_000719.7(CACNA1C):c.4656C>T (p.Ser1552=)
|
rs372600490
|
0.00001
|
NM_000719.7(CACNA1C):c.4704G>A (p.Thr1568=)
|
rs377050884
|
0.00001
|
NM_000719.7(CACNA1C):c.4726+8C>T
|
rs748503663
|
0.00001
|
NM_000719.7(CACNA1C):c.4727-8C>T
|
rs1569189265
|
0.00001
|
NM_000719.7(CACNA1C):c.4757G>A (p.Arg1586Gln)
|
rs375656252
|
0.00001
|
NM_000719.7(CACNA1C):c.478-12T>C
|
rs747409082
|
0.00001
|
NM_000719.7(CACNA1C):c.4782G>A (p.Lys1594=)
|
rs1336965329
|
0.00001
|
NM_000719.7(CACNA1C):c.4819C>T (p.Pro1607Ser)
|
rs745938574
|
0.00001
|
NM_000719.7(CACNA1C):c.482G>A (p.Arg161Gln)
|
rs777210376
|
0.00001
|
NM_000719.7(CACNA1C):c.4837G>A (p.Val1613Ile)
|
rs757629968
|
0.00001
|
NM_000719.7(CACNA1C):c.484G>A (p.Val162Met)
|
rs1243482248
|
0.00001
|
NM_000719.7(CACNA1C):c.4857C>T (p.Tyr1619=)
|
rs758486779
|
0.00001
|
NM_000719.7(CACNA1C):c.4881C>T (p.Tyr1627=)
|
rs1331189773
|
0.00001
|
NM_000719.7(CACNA1C):c.4890G>A (p.Lys1630=)
|
rs781335488
|
0.00001
|
NM_000719.7(CACNA1C):c.4901G>A (p.Arg1634His)
|
rs747957522
|
0.00001
|
NM_000719.7(CACNA1C):c.4927C>T (p.Pro1643Ser)
|
rs786205764
|
0.00001
|
NM_000719.7(CACNA1C):c.4943C>T (p.Ala1648Val)
|
rs767199033
|
0.00001
|
NM_000719.7(CACNA1C):c.4947G>A (p.Leu1649=)
|
rs765704747
|
0.00001
|
NM_000719.7(CACNA1C):c.4956+8C>T
|
rs1318299880
|
0.00001
|
NM_000719.7(CACNA1C):c.4971A>G (p.Thr1657=)
|
rs755018705
|
0.00001
|
NM_000719.7(CACNA1C):c.4983C>T (p.Ile1661=)
|
rs756309007
|
0.00001
|
NM_000719.7(CACNA1C):c.4986G>T (p.Gly1662=)
|
rs1181211424
|
0.00001
|
NM_000719.7(CACNA1C):c.4997G>A (p.Arg1666Gln)
|
rs2096898935
|
0.00001
|
NM_000719.7(CACNA1C):c.4999C>T (p.Arg1667Trp)
|
rs917884780
|
0.00001
|
NM_000719.7(CACNA1C):c.50-18T>C
|
rs750923289
|
0.00001
|
NM_000719.7(CACNA1C):c.5023G>A (p.Ala1675Thr)
|
rs773930851
|
0.00001
|
NM_000719.7(CACNA1C):c.5044G>A (p.Ala1682Thr)
|
rs746554838
|
0.00001
|
NM_000719.7(CACNA1C):c.5047A>G (p.Met1683Val)
|
rs1337057545
|
0.00001
|
NM_000719.7(CACNA1C):c.5109C>T (p.Phe1703=)
|
rs767569416
|
0.00001
|
NM_000719.7(CACNA1C):c.5110G>A (p.Gly1704Ser)
|
rs758268349
|
0.00001
|
NM_000719.7(CACNA1C):c.5114A>G (p.Asn1705Ser)
|
rs1569219272
|
0.00001
|
NM_000719.7(CACNA1C):c.5126A>G (p.Tyr1709Cys)
|
rs201980843
|
0.00001
|
NM_000719.7(CACNA1C):c.5137G>A (p.Asp1713Asn)
|
rs747708938
|
0.00001
|
NM_000719.7(CACNA1C):c.5157C>G (p.Pro1719=)
|
rs534589273
|
0.00001
|
NM_000719.7(CACNA1C):c.5162C>G (p.Thr1721Ser)
|
rs554737427
|
0.00001
|
NM_000719.7(CACNA1C):c.5164T>G (p.Phe1722Val)
|
rs751493277
|
0.00001
|
NM_000719.7(CACNA1C):c.5184G>A (p.Leu1728=)
|
rs942346157
|
0.00001
|
NM_000719.7(CACNA1C):c.5188A>G (p.Ile1730Val)
|
rs758654112
|
0.00001
|
NM_000719.7(CACNA1C):c.5202C>T (p.Gly1734=)
|
rs769124319
|
0.00001
|
NM_000719.7(CACNA1C):c.5220T>G (p.Thr1740=)
|
rs1319539049
|
0.00001
|
NM_000719.7(CACNA1C):c.5225C>T (p.Ser1742Leu)
|
rs375571032
|
0.00001
|
NM_000719.7(CACNA1C):c.5250C>T (p.Asp1750=)
|
rs1231791018
|
0.00001
|
NM_000719.7(CACNA1C):c.5255C>T (p.Thr1752Ile)
|
rs752694570
|
0.00001
|
NM_000719.7(CACNA1C):c.5265G>A (p.Pro1755=)
|
rs763694744
|
0.00001
|
NM_000719.7(CACNA1C):c.5276C>T (p.Ser1759Leu)
|
rs756883184
|
0.00001
|
NM_000719.7(CACNA1C):c.5319C>T (p.Thr1773=)
|
rs897857982
|
0.00001
|
NM_000719.7(CACNA1C):c.5330G>A (p.Arg1777His)
|
rs189719120
|
0.00001
|
NM_000719.7(CACNA1C):c.5338C>T (p.Arg1780Cys)
|
rs371760034
|
0.00001
|
NM_000719.7(CACNA1C):c.5339G>A (p.Arg1780His)
|
rs756829999
|
0.00001
|
NM_000719.7(CACNA1C):c.5344G>A (p.Ala1782Thr)
|
rs750078053
|
0.00001
|
NM_000719.7(CACNA1C):c.5352C>T (p.Tyr1784=)
|
rs753051498
|
0.00001
|
NM_000719.7(CACNA1C):c.5363T>C (p.Val1788Ala)
|
rs1291945037
|
0.00001
|
NM_000719.7(CACNA1C):c.5415G>A (p.Gln1805=)
|
rs778285875
|
0.00001
|
NM_000719.7(CACNA1C):c.5419G>A (p.Val1807Met)
|
rs1474889407
|
0.00001
|
NM_000719.7(CACNA1C):c.5441A>G (p.Asn1814Ser)
|
rs780210232
|
0.00001
|
NM_000719.7(CACNA1C):c.5442C>T (p.Asn1814=)
|
rs1051978823
|
0.00001
|
NM_000719.7(CACNA1C):c.5486A>G (p.Glu1829Gly)
|
rs1350126839
|
0.00001
|
NM_000719.7(CACNA1C):c.5535G>A (p.Thr1845=)
|
rs746271719
|
0.00001
|
NM_000719.7(CACNA1C):c.5549A>C (p.Glu1850Ala)
|
rs375846068
|
0.00001
|
NM_000719.7(CACNA1C):c.5568A>G (p.Thr1856=)
|
rs113417515
|
0.00001
|
NM_000719.7(CACNA1C):c.5600G>A (p.Arg1867Gln)
|
rs535350857
|
0.00001
|
NM_000719.7(CACNA1C):c.5610G>A (p.Thr1870=)
|
rs754665233
|
0.00001
|
NM_000719.7(CACNA1C):c.5632G>A (p.Asp1878Asn)
|
rs767395651
|
0.00001
|
NM_000719.7(CACNA1C):c.5637C>A (p.Ile1879=)
|
rs569227029
|
0.00001
|
NM_000719.7(CACNA1C):c.5657G>C (p.Gly1886Ala)
|
rs748198629
|
0.00001
|
NM_000719.7(CACNA1C):c.5658T>C (p.Gly1886=)
|
rs769766334
|
0.00001
|
NM_000719.7(CACNA1C):c.5666G>A (p.Arg1889His)
|
rs574292274
|
0.00001
|
NM_000719.7(CACNA1C):c.5680+6T>C
|
rs1175926900
|
0.00001
|
NM_000719.7(CACNA1C):c.5681-20C>T
|
rs867626259
|
0.00001
|
NM_000719.7(CACNA1C):c.5714A>G (p.Lys1905Arg)
|
rs375147582
|
0.00001
|
NM_000719.7(CACNA1C):c.5733G>A (p.Gly1911=)
|
rs769215743
|
0.00001
|
NM_000719.7(CACNA1C):c.574C>T (p.Arg192Cys)
|
rs756042537
|
0.00001
|
NM_000719.7(CACNA1C):c.5763C>T (p.Pro1921=)
|
rs1470737165
|
0.00001
|
NM_000719.7(CACNA1C):c.5772G>C (p.Leu1924=)
|
rs757373786
|
0.00001
|
NM_000719.7(CACNA1C):c.5785-4G>A
|
rs763102512
|
0.00001
|
NM_000719.7(CACNA1C):c.5788T>C (p.Leu1930=)
|
rs780936636
|
0.00001
|
NM_000719.7(CACNA1C):c.579C>T (p.Asn193=)
|
rs561224137
|
0.00001
|
NM_000719.7(CACNA1C):c.5808C>G (p.Ser1936Arg)
|
rs748679771
|
0.00001
|
NM_000719.7(CACNA1C):c.5827C>T (p.His1943Tyr)
|
rs200666365
|
0.00001
|
NM_000719.7(CACNA1C):c.5841A>G (p.Ser1947=)
|
rs1056550014
|
0.00001
|
NM_000719.7(CACNA1C):c.5845C>T (p.Pro1949Ser)
|
rs770192725
|
0.00001
|
NM_000719.7(CACNA1C):c.5849G>A (p.Arg1950Lys)
|
rs773787202
|
0.00001
|
NM_000719.7(CACNA1C):c.5883C>T (p.Ser1961=)
|
rs1291974001
|
0.00001
|
NM_000719.7(CACNA1C):c.5894C>T (p.Pro1965Leu)
|
rs958489483
|
0.00001
|
NM_000719.7(CACNA1C):c.5900A>G (p.Gln1967Arg)
|
rs1178438128
|
0.00001
|
NM_000719.7(CACNA1C):c.5905G>A (p.Val1969Ile)
|
rs748408098
|
0.00001
|
NM_000719.7(CACNA1C):c.5922T>C (p.Leu1974=)
|
rs775794989
|
0.00001
|
NM_000719.7(CACNA1C):c.5926G>A (p.Gly1976Arg)
|
rs760338273
|
0.00001
|
NM_000719.7(CACNA1C):c.5928G>A (p.Gly1976=)
|
rs763979736
|
0.00001
|
NM_000719.7(CACNA1C):c.5929G>A (p.Val1977Ile)
|
rs786205741
|
0.00001
|
NM_000719.7(CACNA1C):c.5932G>A (p.Glu1978Lys)
|
rs765320988
|
0.00001
|
NM_000719.7(CACNA1C):c.5939G>A (p.Ser1980Asn)
|
rs749945590
|
0.00001
|
NM_000719.7(CACNA1C):c.5955C>T (p.Ser1985=)
|
rs2097649401
|
0.00001
|
NM_000719.7(CACNA1C):c.5976C>T (p.Cys1992=)
|
rs369690952
|
0.00001
|
NM_000719.7(CACNA1C):c.5995A>G (p.Thr1999Ala)
|
rs1309581039
|
0.00001
|
NM_000719.7(CACNA1C):c.5997C>G (p.Thr1999=)
|
rs1291561787
|
0.00001
|
NM_000719.7(CACNA1C):c.6000C>T (p.Pro2000=)
|
rs772160508
|
0.00001
|
NM_000719.7(CACNA1C):c.6007G>A (p.Gly2003Arg)
|
rs886038918
|
0.00001
|
NM_000719.7(CACNA1C):c.6019G>A (p.Ala2007Thr)
|
rs750411964
|
0.00001
|
NM_000719.7(CACNA1C):c.6021C>T (p.Ala2007=)
|
rs762515457
|
0.00001
|
NM_000719.7(CACNA1C):c.6026G>A (p.Arg2009Gln)
|
rs535291848
|
0.00001
|
NM_000719.7(CACNA1C):c.6039C>T (p.Pro2013=)
|
rs780157730
|
0.00001
|
NM_000719.7(CACNA1C):c.6050T>C (p.Met2017Thr)
|
rs786205742
|
0.00001
|
NM_000719.7(CACNA1C):c.6052G>A (p.Val2018Met)
|
rs1251544688
|
0.00001
|
NM_000719.7(CACNA1C):c.6055C>G (p.Pro2019Ala)
|
rs773185026
|
0.00001
|
NM_000719.7(CACNA1C):c.6063G>A (p.Gln2021=)
|
rs751077510
|
0.00001
|
NM_000719.7(CACNA1C):c.6090C>T (p.His2030=)
|
rs750835120
|
0.00001
|
NM_000719.7(CACNA1C):c.6091G>A (p.Gly2031Ser)
|
rs1464980383
|
0.00001
|
NM_000719.7(CACNA1C):c.6096T>C (p.Ser2032=)
|
rs530955089
|
0.00001
|
NM_000719.7(CACNA1C):c.609G>A (p.Val203=)
|
rs1417477759
|
0.00001
|
NM_000719.7(CACNA1C):c.6100A>G (p.Ser2034Gly)
|
rs1454941343
|
0.00001
|
NM_000719.7(CACNA1C):c.6119T>G (p.Val2040Gly)
|
rs1288222488
|
0.00001
|
NM_000719.7(CACNA1C):c.6154G>A (p.Asp2052Asn)
|
rs957119379
|
0.00001
|
NM_000719.7(CACNA1C):c.615G>T (p.Val205=)
|
rs747320984
|
0.00001
|
NM_000719.7(CACNA1C):c.617+11C>T
|
rs550267364
|
0.00001
|
NM_000719.7(CACNA1C):c.618-4C>G
|
rs1483190714
|
0.00001
|
NM_000719.7(CACNA1C):c.6193G>A (p.Asp2065Asn)
|
rs1060503451
|
0.00001
|
NM_000719.7(CACNA1C):c.6197C>T (p.Ala2066Val)
|
rs1216146146
|
0.00001
|
NM_000719.7(CACNA1C):c.6212T>C (p.Ile2071Thr)
|
rs756403683
|
0.00001
|
NM_000719.7(CACNA1C):c.6235G>A (p.Asp2079Asn)
|
rs759579854
|
0.00001
|
NM_000719.7(CACNA1C):c.6243C>T (p.Ile2081=)
|
rs763666740
|
0.00001
|
NM_000719.7(CACNA1C):c.6253G>A (p.Gly2085Ser)
|
rs2097780609
|
0.00001
|
NM_000719.7(CACNA1C):c.6254G>A (p.Gly2085Asp)
|
rs776275799
|
0.00001
|
NM_000719.7(CACNA1C):c.6279C>T (p.Ala2093=)
|
rs768208850
|
0.00001
|
NM_000719.7(CACNA1C):c.6287C>A (p.Pro2096His)
|
rs2097781569
|
0.00001
|
NM_000719.7(CACNA1C):c.6328G>T (p.Gly2110Cys)
|
rs778550803
|
0.00001
|
NM_000719.7(CACNA1C):c.6331G>A (p.Glu2111Lys)
|
rs1237228580
|
0.00001
|
NM_000719.7(CACNA1C):c.6338A>C (p.Asp2113Ala)
|
rs972053240
|
0.00001
|
NM_000719.7(CACNA1C):c.6354C>T (p.Arg2118=)
|
rs774577016
|
0.00001
|
NM_000719.7(CACNA1C):c.6362G>A (p.Gly2121Asp)
|
rs759953087
|
0.00001
|
NM_000719.7(CACNA1C):c.6390C>T (p.Asp2130=)
|
rs757406553
|
0.00001
|
NM_000719.7(CACNA1C):c.662C>G (p.Ala221Gly)
|
rs2099443661
|
0.00001
|
NM_000719.7(CACNA1C):c.672C>T (p.Leu224=)
|
rs868024886
|
0.00001
|
NM_000719.7(CACNA1C):c.714C>G (p.Ala238=)
|
rs561293967
|
0.00001
|
NM_000719.7(CACNA1C):c.720C>T (p.Arg240=)
|
rs527755968
|
0.00001
|
NM_000719.7(CACNA1C):c.733C>T (p.Leu245=)
|
rs2099444468
|
0.00001
|
NM_000719.7(CACNA1C):c.75C>T (p.Pro25=)
|
rs773869181
|
0.00001
|
NM_000719.7(CACNA1C):c.762C>T (p.Leu254=)
|
rs1196925256
|
0.00001
|
NM_000719.7(CACNA1C):c.792C>A (p.Ala264=)
|
rs750459136
|
0.00001
|
NM_000719.7(CACNA1C):c.82G>A (p.Ala28Thr)
|
rs373687005
|
0.00001
|
NM_000719.7(CACNA1C):c.897C>T (p.Tyr299=)
|
rs1427818356
|
0.00001
|
NM_000719.7(CACNA1C):c.901C>G (p.Gln301Glu)
|
rs538921079
|
0.00001
|
NM_000719.7(CACNA1C):c.914C>G (p.Ala305Gly)
|
rs948804634
|
0.00001
|
NM_000719.7(CACNA1C):c.917-20T>C
|
rs1228502476
|
0.00001
|
NM_000719.7(CACNA1C):c.91A>G (p.Asn31Asp)
|
rs531598856
|
0.00001
|
NM_000719.7(CACNA1C):c.941C>T (p.Ser314Phe)
|
rs907730518
|
0.00001
|
NM_000719.7(CACNA1C):c.953T>C (p.Leu318Pro)
|
rs745856938
|
0.00001
|
NM_000719.7(CACNA1C):c.960G>A (p.Thr320=)
|
rs553958501
|
0.00001
|
NM_000719.7(CACNA1C):c.969G>A (p.Gly323=)
|
rs1321784808
|
0.00001
|
NM_000719.7(CACNA1C):c.98A>G (p.Asn33Ser)
|
rs535608443
|
0.00001
|
NM_000719.7(CACNA1C):c.999G>A (p.Lys333=)
|
rs770382212
|
0.00001
|
NM_000890.5(KCNJ5):c.1133A>C (p.Gln378Pro)
|
rs544093099
|
0.00001
|
NM_000890.5(KCNJ5):c.1137C>T (p.Tyr379=)
|
rs781130958
|
0.00001
|
NM_000890.5(KCNJ5):c.1155G>T (p.Leu385=)
|
rs1202155314
|
0.00001
|
NM_000890.5(KCNJ5):c.1184A>C (p.Asp395Ala)
|
rs766058202
|
0.00001
|
NM_000890.5(KCNJ5):c.119C>T (p.Thr40Met)
|
rs185412918
|
0.00001
|
NM_000890.5(KCNJ5):c.120G>A (p.Thr40=)
|
rs370114584
|
0.00001
|
NM_000890.5(KCNJ5):c.1217C>T (p.Pro406Leu)
|
rs1467798537
|
0.00001
|
NM_000890.5(KCNJ5):c.149G>A (p.Arg50His)
|
rs748152068
|
0.00001
|
NM_000890.5(KCNJ5):c.163G>A (p.Glu55Lys)
|
rs72544301
|
0.00001
|
NM_000890.5(KCNJ5):c.183C>T (p.Asn61=)
|
rs760931417
|
0.00001
|
NM_000890.5(KCNJ5):c.198C>T (p.Asn66=)
|
rs371347693
|
0.00001
|
NM_000890.5(KCNJ5):c.214C>T (p.Arg72Trp)
|
rs757877367
|
0.00001
|
NM_000890.5(KCNJ5):c.259C>T (p.Arg87Cys)
|
rs781022847
|
0.00001
|
NM_000890.5(KCNJ5):c.295G>A (p.Val99Ile)
|
rs1390685442
|
0.00001
|
NM_000890.5(KCNJ5):c.344G>A (p.Arg115Gln)
|
rs369247802
|
0.00001
|
NM_000890.5(KCNJ5):c.367G>A (p.Asp123Asn)
|
rs752310426
|
0.00001
|
NM_000890.5(KCNJ5):c.408C>T (p.Phe136=)
|
rs780052854
|
0.00001
|
NM_000890.5(KCNJ5):c.414C>T (p.Ser138=)
|
rs149219318
|
0.00001
|
NM_000890.5(KCNJ5):c.415G>A (p.Ala139Thr)
|
rs201816501
|
0.00001
|
NM_000890.5(KCNJ5):c.473C>G (p.Thr158Arg)
|
rs145901904
|
0.00001
|
NM_000890.5(KCNJ5):c.532G>A (p.Val178Ile)
|
rs771161358
|
0.00001
|
NM_000890.5(KCNJ5):c.590C>T (p.Ala197Val)
|
rs1389181295
|
0.00001
|
NM_000890.5(KCNJ5):c.616G>A (p.Ala206Thr)
|
rs750424299
|
0.00001
|
NM_000890.5(KCNJ5):c.618A>G (p.Ala206=)
|
rs758377412
|
0.00001
|
NM_000890.5(KCNJ5):c.658C>T (p.Arg220Trp)
|
rs772551729
|
0.00001
|
NM_000890.5(KCNJ5):c.665G>A (p.Gly222Asp)
|
rs746522890
|
0.00001
|
NM_000890.5(KCNJ5):c.674G>A (p.Arg225His)
|
rs772877248
|
0.00001
|
NM_000890.5(KCNJ5):c.703C>T (p.Arg235Trp)
|
rs148462487
|
0.00001
|
NM_000890.5(KCNJ5):c.724C>T (p.Arg242Trp)
|
rs576156828
|
0.00001
|
NM_000890.5(KCNJ5):c.725G>A (p.Arg242Gln)
|
rs746240972
|
0.00001
|
NM_000890.5(KCNJ5):c.732C>T (p.Thr244=)
|
rs545729688
|
0.00001
|
NM_000890.5(KCNJ5):c.748A>T (p.Ile250Phe)
|
rs769317544
|
0.00001
|
NM_000890.5(KCNJ5):c.800G>A (p.Arg267His)
|
rs886048010
|
0.00001
|
NM_000890.5(KCNJ5):c.902T>A (p.Val301Asp)
|
rs1462481036
|
0.00001
|
NM_000890.5(KCNJ5):c.906G>T (p.Val302=)
|
rs533482437
|
0.00001
|
NM_000890.5(KCNJ5):c.937+9C>T
|
rs781582486
|
0.00001
|
NM_000890.5(KCNJ5):c.938-4C>T
|
rs753186315
|
0.00001
|
NM_000890.5(KCNJ5):c.990C>A (p.Gly330=)
|
rs1370256653
|
0.00001
|
NM_000891.3(KCNJ2):c.102G>C (p.Lys34Asn)
|
rs1476737505
|
0.00001
|
NM_000891.3(KCNJ2):c.1035C>T (p.His345=)
|
rs201747514
|
0.00001
|
NM_000891.3(KCNJ2):c.1083A>G (p.Leu361=)
|
rs767166881
|
0.00001
|
NM_000891.3(KCNJ2):c.1104C>T (p.Leu368=)
|
rs753839703
|
0.00001
|
NM_000891.3(KCNJ2):c.1115A>G (p.Asn372Ser)
|
rs1279418065
|
0.00001
|
NM_000891.3(KCNJ2):c.1207C>A (p.Pro403Thr)
|
rs752406680
|
0.00001
|
NM_000891.3(KCNJ2):c.1212T>C (p.Pro404=)
|
rs763917912
|
0.00001
|
NM_000891.3(KCNJ2):c.1268G>A (p.Arg423Gln)
|
rs745372216
|
0.00001
|
NM_000891.3(KCNJ2):c.1275G>A (p.Ser425=)
|
rs555386610
|
0.00001
|
NM_000891.3(KCNJ2):c.138C>T (p.Arg46=)
|
rs997406384
|
0.00001
|
NM_000891.3(KCNJ2):c.14G>A (p.Arg5Gln)
|
rs764311511
|
0.00001
|
NM_000891.3(KCNJ2):c.179A>G (p.Asn60Ser)
|
rs1484750176
|
0.00001
|
NM_000891.3(KCNJ2):c.219C>T (p.Phe73=)
|
rs1434901464
|
0.00001
|
NM_000891.3(KCNJ2):c.222C>T (p.Thr74=)
|
rs1053161336
|
0.00001
|
NM_000891.3(KCNJ2):c.22C>T (p.Arg8Cys)
|
rs529080615
|
0.00001
|
NM_000891.3(KCNJ2):c.24C>T (p.Arg8=)
|
rs550697411
|
0.00001
|
NM_000891.3(KCNJ2):c.261C>T (p.Ile87=)
|
rs1166497262
|
0.00001
|
NM_000891.3(KCNJ2):c.276C>T (p.Phe92=)
|
rs556248547
|
0.00001
|
NM_000891.3(KCNJ2):c.279C>T (p.Val93=)
|
rs767566718
|
0.00001
|
NM_000891.3(KCNJ2):c.302G>T (p.Cys101Phe)
|
rs750630010
|
0.00001
|
NM_000891.3(KCNJ2):c.303T>C (p.Cys101=)
|
rs376921497
|
0.00001
|
NM_000891.3(KCNJ2):c.322C>G (p.Leu108Val)
|
rs371331394
|
0.00001
|
NM_000891.3(KCNJ2):c.387C>T (p.Phe129=)
|
rs1402832714
|
0.00001
|
NM_000891.3(KCNJ2):c.389C>T (p.Thr130Met)
|
rs151168735
|
0.00001
|
NM_000891.3(KCNJ2):c.390G>A (p.Thr130=)
|
rs745672560
|
0.00001
|
NM_000891.3(KCNJ2):c.430G>A (p.Gly144Ser)
|
rs199473378
|
0.00001
|
NM_000891.3(KCNJ2):c.435T>C (p.Tyr145=)
|
rs773185250
|
0.00001
|
NM_000891.3(KCNJ2):c.453G>A (p.Thr151=)
|
rs751862699
|
0.00001
|
NM_000891.3(KCNJ2):c.465A>G (p.Pro155=)
|
rs759879267
|
0.00001
|
NM_000891.3(KCNJ2):c.466A>G (p.Ile156Val)
|
rs767934529
|
0.00001
|
NM_000891.3(KCNJ2):c.476T>C (p.Phe159Ser)
|
rs1236228202
|
0.00001
|
NM_000891.3(KCNJ2):c.498C>T (p.Ile166=)
|
rs142049682
|
0.00001
|
NM_000891.3(KCNJ2):c.499G>A (p.Val167Met)
|
rs140147979
|
0.00001
|
NM_000891.3(KCNJ2):c.532G>A (p.Ala178Thr)
|
rs771965504
|
0.00001
|
NM_000891.3(KCNJ2):c.579T>G (p.Leu193=)
|
rs773272852
|
0.00001
|
NM_000891.3(KCNJ2):c.5_6insAAGTGTGCGAACCAACCGCTA (p.Val4_Ser10dup)
|
rs2074383942
|
0.00001
|
NM_000891.3(KCNJ2):c.604G>A (p.Ala202Thr)
|
rs759793133
|
0.00001
|
NM_000891.3(KCNJ2):c.675T>C (p.Ala225=)
|
rs201850260
|
0.00001
|
NM_000891.3(KCNJ2):c.678T>C (p.His226=)
|
rs559935671
|
0.00001
|
NM_000891.3(KCNJ2):c.687A>G (p.Ala229=)
|
rs1276042254
|
0.00001
|
NM_000891.3(KCNJ2):c.694C>T (p.Leu232Phe)
|
rs779856198
|
0.00001
|
NM_000891.3(KCNJ2):c.750C>A (p.Ile250=)
|
rs886039094
|
0.00001
|
NM_000891.3(KCNJ2):c.752A>G (p.Asn251Ser)
|
rs1261477163
|
0.00001
|
NM_000891.3(KCNJ2):c.75A>C (p.Ala25=)
|
rs1217136489
|
0.00001
|
NM_000891.3(KCNJ2):c.781A>G (p.Ile261Val)
|
rs774461588
|
0.00001
|
NM_000891.3(KCNJ2):c.81A>C (p.Ala27=)
|
rs2074384649
|
0.00001
|
NM_000891.3(KCNJ2):c.845T>G (p.Leu282Trp)
|
rs758092571
|
0.00001
|
NM_000891.3(KCNJ2):c.859A>C (p.Ile287Leu)
|
rs758054840
|
0.00001
|
NM_000891.3(KCNJ2):c.868G>A (p.Ala290Thr)
|
rs895505794
|
0.00001
|
NM_000891.3(KCNJ2):c.87C>T (p.Gly29=)
|
rs1027878057
|
0.00001
|
NM_000891.3(KCNJ2):c.883G>A (p.Val295Met)
|
rs2074389817
|
0.00001
|
NM_000891.3(KCNJ2):c.924G>A (p.Thr308=)
|
rs1441547463
|
0.00001
|
NM_000891.3(KCNJ2):c.945T>C (p.Tyr315=)
|
rs2074390355
|
0.00001
|
NM_000891.3(KCNJ2):c.953A>G (p.Asn318Ser)
|
rs367560052
|
0.00001
|
NM_000891.3(KCNJ2):c.984T>C (p.Pro328=)
|
rs905657549
|
0.00001
|
NM_000891.3(KCNJ2):c.99G>A (p.Gly33=)
|
rs769513425
|
0.00001
|
NM_000891.3(KCNJ2):c.9T>C (p.Ser3=)
|
rs1598210962
|
0.00001
|
NM_001106.4(ACVR2B):c.1209A>G (p.Ala403=)
|
rs372522416
|
0.00001
|
NM_001106.4(ACVR2B):c.1445G>A (p.Arg482Gln)
|
rs747041699
|
0.00001
|
NM_001106.4(ACVR2B):c.1480G>A (p.Val494Ile)
|
rs121434438
|
0.00001
|
NM_001106.4(ACVR2B):c.1532G>A (p.Ser511Asn)
|
rs1559656538
|
0.00001
|
NM_001106.4(ACVR2B):c.260+10G>C
|
rs200401350
|
0.00001
|
NM_001106.4(ACVR2B):c.775G>C (p.Val259Leu)
|
rs540729310
|
0.00001
|
NM_001106.4(ACVR2B):c.925C>T (p.Arg309Cys)
|
rs769170500
|
0.00001
|
NM_001106.4(ACVR2B):c.926G>A (p.Arg309His)
|
rs138692827
|
0.00001
|
NM_001106.4(ACVR2B):c.960-3C>T
|
rs748795436
|
0.00001
|
NM_001106.4(ACVR2B):c.99C>T (p.Asn33=)
|
rs759328980
|
0.00001
|
NM_001136271.3(NKX2-6):c.125A>G (p.Gln42Arg)
|
rs1440787889
|
0.00001
|
NM_001136271.3(NKX2-6):c.180C>T (p.Gly60=)
|
rs1356335573
|
0.00001
|
NM_001136271.3(NKX2-6):c.181G>A (p.Gly61Ser)
|
rs774277973
|
0.00001
|
NM_001136271.3(NKX2-6):c.35C>T (p.Ser12Leu)
|
rs1254295378
|
0.00001
|
NM_001136271.3(NKX2-6):c.434T>C (p.Leu145Pro)
|
rs1369416257
|
0.00001
|
NM_001136271.3(NKX2-6):c.50T>C (p.Leu17Pro)
|
rs1197285444
|
0.00001
|
NM_001136271.3(NKX2-6):c.538T>C (p.Phe180Leu)
|
rs1165279653
|
0.00001
|
NM_001136271.3(NKX2-6):c.625G>T (p.Ala209Ser)
|
rs941121273
|
0.00001
|
NM_001148.6(ANK2):c.10020T>A (p.Asp3340Glu)
|
rs1210742834
|
0.00001
|
NM_001148.6(ANK2):c.10034A>T (p.Lys3345Met)
|
rs376912244
|
0.00001
|
NM_001148.6(ANK2):c.10060C>G (p.Leu3354Val)
|
rs1564061618
|
0.00001
|
NM_001148.6(ANK2):c.10070T>C (p.Val3357Ala)
|
rs1268005912
|
0.00001
|
NM_001148.6(ANK2):c.10080G>C (p.Gln3360His)
|
rs1214575789
|
0.00001
|
NM_001148.6(ANK2):c.10084T>A (p.Ser3362Thr)
|
rs923915013
|
0.00001
|
NM_001148.6(ANK2):c.10102G>A (p.Val3368Ile)
|
rs767395287
|
0.00001
|
NM_001148.6(ANK2):c.10126G>A (p.Gly3376Arg)
|
rs1171741008
|
0.00001
|
NM_001148.6(ANK2):c.10200G>C (p.Lys3400Asn)
|
rs942441867
|
0.00001
|
NM_001148.6(ANK2):c.10205A>C (p.Lys3402Thr)
|
rs762372282
|
0.00001
|
NM_001148.6(ANK2):c.10222C>G (p.Arg3408Gly)
|
rs773715451
|
0.00001
|
NM_001148.6(ANK2):c.10223G>A (p.Arg3408Gln)
|
rs759274800
|
0.00001
|
NM_001148.6(ANK2):c.10254A>C (p.Arg3418Ser)
|
rs200605861
|
0.00001
|
NM_001148.6(ANK2):c.10263C>T (p.Ala3421=)
|
rs745900850
|
0.00001
|
NM_001148.6(ANK2):c.10264G>A (p.Glu3422Lys)
|
rs758710640
|
0.00001
|
NM_001148.6(ANK2):c.10288G>C (p.Glu3430Gln)
|
rs1554571927
|
0.00001
|
NM_001148.6(ANK2):c.102C>T (p.Ser34=)
|
rs866875104
|
0.00001
|
NM_001148.6(ANK2):c.10331T>C (p.Val3444Ala)
|
rs1389060330
|
0.00001
|
NM_001148.6(ANK2):c.10342A>T (p.Ser3448Cys)
|
rs1385620748
|
0.00001
|
NM_001148.6(ANK2):c.10358G>C (p.Cys3453Ser)
|
rs1554572092
|
0.00001
|
NM_001148.6(ANK2):c.10363G>C (p.Gly3455Arg)
|
rs766996807
|
0.00001
|
NM_001148.6(ANK2):c.10370C>T (p.Thr3457Met)
|
rs900955620
|
0.00001
|
NM_001148.6(ANK2):c.10375C>T (p.Pro3459Ser)
|
rs761631834
|
0.00001
|
NM_001148.6(ANK2):c.10407C>T (p.Asp3469=)
|
rs1207598022
|
0.00001
|
NM_001148.6(ANK2):c.10423A>G (p.Ile3475Val)
|
rs751755180
|
0.00001
|
NM_001148.6(ANK2):c.10520G>A (p.Ser3507Asn)
|
rs760127428
|
0.00001
|
NM_001148.6(ANK2):c.10528G>T (p.Ala3510Ser)
|
rs1303634187
|
0.00001
|
NM_001148.6(ANK2):c.10547T>C (p.Ile3516Thr)
|
rs765022083
|
0.00001
|
NM_001148.6(ANK2):c.10555C>T (p.Leu3519=)
|
rs750329150
|
0.00001
|
NM_001148.6(ANK2):c.10562C>T (p.Pro3521Leu)
|
rs766421377
|
0.00001
|
NM_001148.6(ANK2):c.10573G>A (p.Glu3525Lys)
|
rs781552524
|
0.00001
|
NM_001148.6(ANK2):c.1062C>T (p.His354=)
|
rs748901491
|
0.00001
|
NM_001148.6(ANK2):c.10645C>T (p.Arg3549Cys)
|
rs1056477885
|
0.00001
|
NM_001148.6(ANK2):c.10660A>T (p.Asn3554Tyr)
|
rs758868149
|
0.00001
|
NM_001148.6(ANK2):c.10674T>C (p.His3558=)
|
rs761385520
|
0.00001
|
NM_001148.6(ANK2):c.10774G>T (p.Asp3592Tyr)
|
rs777495627
|
0.00001
|
NM_001148.6(ANK2):c.10807A>G (p.Ile3603Val)
|
rs1057521529
|
0.00001
|
NM_001148.6(ANK2):c.10848G>A (p.Leu3616=)
|
rs1060504151
|
0.00001
|
NM_001148.6(ANK2):c.10858T>A (p.Trp3620Arg)
|
rs199473346
|
0.00001
|
NM_001148.6(ANK2):c.10899C>T (p.Leu3633=)
|
rs1460849721
|
0.00001
|
NM_001148.6(ANK2):c.10999A>G (p.Ile3667Val)
|
rs1476966675
|
0.00001
|
NM_001148.6(ANK2):c.11010C>T (p.Thr3670=)
|
rs794727664
|
0.00001
|
NM_001148.6(ANK2):c.11027G>C (p.Ser3676Thr)
|
rs886059017
|
0.00001
|
NM_001148.6(ANK2):c.11059T>C (p.Cys3687Arg)
|
rs2096584172
|
0.00001
|
NM_001148.6(ANK2):c.11150T>A (p.Ile3717Asn)
|
rs747566497
|
0.00001
|
NM_001148.6(ANK2):c.11177A>T (p.Asp3726Val)
|
rs762384095
|
0.00001
|
NM_001148.6(ANK2):c.11205C>T (p.Ser3735=)
|
rs895533888
|
0.00001
|
NM_001148.6(ANK2):c.11235C>T (p.His3745=)
|
rs1031911175
|
0.00001
|
NM_001148.6(ANK2):c.11300A>T (p.Glu3767Val)
|
rs773893598
|
0.00001
|
NM_001148.6(ANK2):c.11302T>C (p.Tyr3768His)
|
rs771710685
|
0.00001
|
NM_001148.6(ANK2):c.11313A>C (p.Glu3771Asp)
|
rs1261133929
|
0.00001
|
NM_001148.6(ANK2):c.11320G>A (p.Val3774Met)
|
rs771510196
|
0.00001
|
NM_001148.6(ANK2):c.11398G>A (p.Glu3800Lys)
|
rs1057522136
|
0.00001
|
NM_001148.6(ANK2):c.1139T>C (p.Val380Ala)
|
rs1478665074
|
0.00001
|
NM_001148.6(ANK2):c.11435T>G (p.Leu3812Arg)
|
rs1554589909
|
0.00001
|
NM_001148.6(ANK2):c.11446A>G (p.Thr3816Ala)
|
rs1209317369
|
0.00001
|
NM_001148.6(ANK2):c.11453G>A (p.Ser3818Asn)
|
rs754056434
|
0.00001
|
NM_001148.6(ANK2):c.11454C>T (p.Ser3818=)
|
rs778361140
|
0.00001
|
NM_001148.6(ANK2):c.11480A>G (p.Gln3827Arg)
|
rs1554590231
|
0.00001
|
NM_001148.6(ANK2):c.11496C>G (p.Pro3832=)
|
rs1367181224
|
0.00001
|
NM_001148.6(ANK2):c.11504A>C (p.His3835Pro)
|
rs762934492
|
0.00001
|
NM_001148.6(ANK2):c.11539G>A (p.Val3847Ile)
|
rs1448123780
|
0.00001
|
NM_001148.6(ANK2):c.11555C>G (p.Ala3852Gly)
|
rs786205739
|
0.00001
|
NM_001148.6(ANK2):c.11556C>T (p.Ala3852=)
|
rs751064768
|
0.00001
|
NM_001148.6(ANK2):c.11577T>C (p.Cys3859=)
|
rs1315574689
|
0.00001
|
NM_001148.6(ANK2):c.11583A>G (p.Arg3861=)
|
rs777408433
|
0.00001
|
NM_001148.6(ANK2):c.11610+5G>A
|
rs1057524171
|
0.00001
|
NM_001148.6(ANK2):c.11617G>A (p.Asp3873Asn)
|
rs777035563
|
0.00001
|
NM_001148.6(ANK2):c.11632C>A (p.Pro3878Thr)
|
rs369756604
|
0.00001
|
NM_001148.6(ANK2):c.11632C>G (p.Pro3878Ala)
|
rs369756604
|
0.00001
|
NM_001148.6(ANK2):c.11665G>C (p.Asp3889His)
|
rs994135691
|
0.00001
|
NM_001148.6(ANK2):c.11675G>C (p.Gly3892Ala)
|
rs1311323688
|
0.00001
|
NM_001148.6(ANK2):c.11681C>G (p.Thr3894Ser)
|
rs1318639708
|
0.00001
|
NM_001148.6(ANK2):c.11682C>T (p.Thr3894=)
|
rs758235027
|
0.00001
|
NM_001148.6(ANK2):c.11728T>C (p.Ser3910Pro)
|
rs1181940613
|
0.00001
|
NM_001148.6(ANK2):c.1172C>T (p.Pro391Leu)
|
rs752016285
|
0.00001
|
NM_001148.6(ANK2):c.11735G>A (p.Gly3912Asp)
|
rs1421582181
|
0.00001
|
NM_001148.6(ANK2):c.1176C>T (p.Asn392=)
|
rs777256180
|
0.00001
|
NM_001148.6(ANK2):c.11847C>T (p.Thr3949=)
|
rs771225003
|
0.00001
|
NM_001148.6(ANK2):c.11848G>A (p.Glu3950Lys)
|
rs746413508
|
0.00001
|
NM_001148.6(ANK2):c.1226A>G (p.Asn409Ser)
|
rs2050505540
|
0.00001
|
NM_001148.6(ANK2):c.1252G>A (p.Val418Met)
|
rs760073103
|
0.00001
|
NM_001148.6(ANK2):c.1279A>G (p.Ile427Val)
|
rs750168379
|
0.00001
|
NM_001148.6(ANK2):c.1287+19T>C
|
rs754784099
|
0.00001
|
NM_001148.6(ANK2):c.1308T>C (p.His436=)
|
rs777946326
|
0.00001
|
NM_001148.6(ANK2):c.1344C>G (p.Leu448=)
|
rs1435867786
|
0.00001
|
NM_001148.6(ANK2):c.1387-20C>T
|
rs747367469
|
0.00001
|
NM_001148.6(ANK2):c.1387-6T>C
|
rs536304475
|
0.00001
|
NM_001148.6(ANK2):c.1388G>A (p.Arg463His)
|
rs1420771855
|
0.00001
|
NM_001148.6(ANK2):c.1399G>T (p.Ala467Ser)
|
rs1060501161
|
0.00001
|
NM_001148.6(ANK2):c.139G>T (p.Val47Phe)
|
rs1388701783
|
0.00001
|
NM_001148.6(ANK2):c.1427A>G (p.Gln476Arg)
|
rs1203193073
|
0.00001
|
NM_001148.6(ANK2):c.1509T>A (p.Ile503=)
|
rs775008205
|
0.00001
|
NM_001148.6(ANK2):c.1511C>T (p.Ala504Val)
|
rs1303233267
|
0.00001
|
NM_001148.6(ANK2):c.1517G>A (p.Arg506His)
|
rs760370075
|
0.00001
|
NM_001148.6(ANK2):c.1578C>G (p.Ala526=)
|
rs762958248
|
0.00001
|
NM_001148.6(ANK2):c.158G>C (p.Gly53Ala)
|
rs769893243
|
0.00001
|
NM_001148.6(ANK2):c.1602G>T (p.Leu534=)
|
rs755241369
|
0.00001
|
NM_001148.6(ANK2):c.1615C>T (p.Arg539Trp)
|
rs756495481
|
0.00001
|
NM_001148.6(ANK2):c.1616G>A (p.Arg539Gln)
|
rs927869437
|
0.00001
|
NM_001148.6(ANK2):c.162C>T (p.Gly54=)
|
rs749635039
|
0.00001
|
NM_001148.6(ANK2):c.1647A>G (p.Leu549=)
|
rs186150414
|
0.00001
|
NM_001148.6(ANK2):c.1664C>T (p.Ala555Val)
|
rs766431760
|
0.00001
|
NM_001148.6(ANK2):c.1696C>T (p.Pro566Ser)
|
rs2060790981
|
0.00001
|
NM_001148.6(ANK2):c.1726C>G (p.Leu576Val)
|
rs1278355638
|
0.00001
|
NM_001148.6(ANK2):c.1756C>T (p.Arg586Cys)
|
rs777474558
|
0.00001
|
NM_001148.6(ANK2):c.1783-19T>A
|
rs1013598144
|
0.00001
|
NM_001148.6(ANK2):c.1803T>C (p.His601=)
|
rs144016063
|
0.00001
|
NM_001148.6(ANK2):c.1818T>C (p.Tyr606=)
|
rs1416016915
|
0.00001
|
NM_001148.6(ANK2):c.186+18A>G
|
rs1057521531
|
0.00001
|
NM_001148.6(ANK2):c.187-10C>A
|
rs370724614
|
0.00001
|
NM_001148.6(ANK2):c.1882-8C>G
|
rs3025720
|
0.00001
|
NM_001148.6(ANK2):c.1919A>G (p.Asn640Ser)
|
rs759958342
|
0.00001
|
NM_001148.6(ANK2):c.1986A>G (p.Gly662=)
|
rs765012746
|
0.00001
|
NM_001148.6(ANK2):c.1994C>A (p.Pro665Gln)
|
rs779699159
|
0.00001
|
NM_001148.6(ANK2):c.2028T>A (p.Asp676Glu)
|
rs748195396
|
0.00001
|
NM_001148.6(ANK2):c.2063T>A (p.Ile688Asn)
|
rs746436835
|
0.00001
|
NM_001148.6(ANK2):c.2067C>T (p.His689=)
|
rs772480764
|
0.00001
|
NM_001148.6(ANK2):c.2073A>G (p.Ser691=)
|
rs1369823612
|
0.00001
|
NM_001148.6(ANK2):c.2079+5T>G
|
rs1304362778
|
0.00001
|
NM_001148.6(ANK2):c.2108C>T (p.Ala703Val)
|
rs756016862
|
0.00001
|
NM_001148.6(ANK2):c.2128G>A (p.Val710Ile)
|
rs779008591
|
0.00001
|
NM_001148.6(ANK2):c.2172T>C (p.His724=)
|
rs1216755738
|
0.00001
|
NM_001148.6(ANK2):c.2216G>C (p.Gly739Ala)
|
rs1450953871
|
0.00001
|
NM_001148.6(ANK2):c.2228T>C (p.Met743Thr)
|
rs147053743
|
0.00001
|
NM_001148.6(ANK2):c.2278-3C>T
|
rs2068212813
|
0.00001
|
NM_001148.6(ANK2):c.2289G>A (p.Thr763=)
|
rs753131867
|
0.00001
|
NM_001148.6(ANK2):c.228C>T (p.His76=)
|
rs1300920995
|
0.00001
|
NM_001148.6(ANK2):c.2304C>T (p.Ala768=)
|
rs1386348948
|
0.00001
|
NM_001148.6(ANK2):c.2329A>G (p.Ile777Val)
|
rs757964072
|
0.00001
|
NM_001148.6(ANK2):c.2334C>T (p.Asn778=)
|
rs779535881
|
0.00001
|
NM_001148.6(ANK2):c.2345A>G (p.Gln782Arg)
|
rs754601230
|
0.00001
|
NM_001148.6(ANK2):c.2364C>T (p.Asn788=)
|
rs769405364
|
0.00001
|
NM_001148.6(ANK2):c.2369C>T (p.Thr790Ile)
|
rs141829855
|
0.00001
|
NM_001148.6(ANK2):c.2376+20C>T
|
rs767816261
|
0.00001
|
NM_001148.6(ANK2):c.2465C>A (p.Thr822Asn)
|
rs374355225
|
0.00001
|
NM_001148.6(ANK2):c.2468C>T (p.Thr823Ile)
|
rs772263458
|
0.00001
|
NM_001148.6(ANK2):c.2580A>G (p.Glu860=)
|
rs2079827735
|
0.00001
|
NM_001148.6(ANK2):c.2650A>G (p.Met884Val)
|
rs769599000
|
0.00001
|
NM_001148.6(ANK2):c.2684G>A (p.Arg895Gln)
|
rs751513548
|
0.00001
|
NM_001148.6(ANK2):c.2734C>T (p.His912Tyr)
|
rs757479095
|
0.00001
|
NM_001148.6(ANK2):c.2755A>G (p.Ser919Gly)
|
rs1215559209
|
0.00001
|
NM_001148.6(ANK2):c.2803A>C (p.Thr935Pro)
|
rs756666052
|
0.00001
|
NM_001148.6(ANK2):c.2819C>G (p.Ala940Gly)
|
rs537484483
|
0.00001
|
NM_001148.6(ANK2):c.2837G>A (p.Arg946His)
|
rs768671380
|
0.00001
|
NM_001148.6(ANK2):c.2838C>G (p.Arg946=)
|
rs776367538
|
0.00001
|
NM_001148.6(ANK2):c.2841A>G (p.Leu947=)
|
rs1270964149
|
0.00001
|
NM_001148.6(ANK2):c.2849G>A (p.Gly950Asp)
|
rs1437372961
|
0.00001
|
NM_001148.6(ANK2):c.285+12G>A
|
rs752639381
|
0.00001
|
NM_001148.6(ANK2):c.2852C>T (p.Thr951Ile)
|
rs773635091
|
0.00001
|
NM_001148.6(ANK2):c.286-10T>G
|
rs1424126524
|
0.00001
|
NM_001148.6(ANK2):c.2897C>T (p.Ser966Leu)
|
rs200658794
|
0.00001
|
NM_001148.6(ANK2):c.2899G>C (p.Gly967Arg)
|
rs367583875
|
0.00001
|
NM_001148.6(ANK2):c.2930G>A (p.Arg977Gln)
|
rs747390978
|
0.00001
|
NM_001148.6(ANK2):c.2987G>A (p.Arg996Gln)
|
rs200124480
|
0.00001
|
NM_001148.6(ANK2):c.3082A>G (p.Ser1028Gly)
|
rs786205726
|
0.00001
|
NM_001148.6(ANK2):c.3086G>A (p.Arg1029His)
|
rs758980553
|
0.00001
|
NM_001148.6(ANK2):c.3093C>T (p.Ile1031=)
|
rs767037865
|
0.00001
|
NM_001148.6(ANK2):c.3125+6G>A
|
rs763791737
|
0.00001
|
NM_001148.6(ANK2):c.3143C>T (p.Thr1048Met)
|
rs786205735
|
0.00001
|
NM_001148.6(ANK2):c.3235G>A (p.Val1079Met)
|
rs774214850
|
0.00001
|
NM_001148.6(ANK2):c.3263G>A (p.Arg1088Gln)
|
rs1232729014
|
0.00001
|
NM_001148.6(ANK2):c.3293G>A (p.Arg1098His)
|
rs764760708
|
0.00001
|
NM_001148.6(ANK2):c.3295A>C (p.Ser1099Arg)
|
rs779625857
|
0.00001
|
NM_001148.6(ANK2):c.3337A>G (p.Thr1113Ala)
|
rs150841275
|
0.00001
|
NM_001148.6(ANK2):c.3339T>C (p.Thr1113=)
|
rs1482914715
|
0.00001
|
NM_001148.6(ANK2):c.340A>G (p.Lys114Glu)
|
rs1562826841
|
0.00001
|
NM_001148.6(ANK2):c.3413G>A (p.Arg1138Gln)
|
rs1353812954
|
0.00001
|
NM_001148.6(ANK2):c.3455C>T (p.Ala1152Val)
|
rs376536631
|
0.00001
|
NM_001148.6(ANK2):c.348T>C (p.Leu116=)
|
rs752015185
|
0.00001
|
NM_001148.6(ANK2):c.3515G>A (p.Ser1172Asn)
|
rs755716405
|
0.00001
|
NM_001148.6(ANK2):c.3526G>T (p.Val1176Leu)
|
rs777113752
|
0.00001
|
NM_001148.6(ANK2):c.3571C>T (p.Arg1191Trp)
|
rs771751897
|
0.00001
|
NM_001148.6(ANK2):c.3591+19C>A
|
rs116394434
|
0.00001
|
NM_001148.6(ANK2):c.365A>G (p.Asn122Ser)
|
rs748761434
|
0.00001
|
NM_001148.6(ANK2):c.36T>C (p.Ser12=)
|
rs2066075615
|
0.00001
|
NM_001148.6(ANK2):c.3796+10A>T
|
rs754794031
|
0.00001
|
NM_001148.6(ANK2):c.3858T>C (p.Asn1286=)
|
rs1563885033
|
0.00001
|
NM_001148.6(ANK2):c.3894-15T>C
|
rs761835615
|
0.00001
|
NM_001148.6(ANK2):c.3969C>T (p.Cys1323=)
|
rs756674393
|
0.00001
|
NM_001148.6(ANK2):c.3970G>A (p.Val1324Ile)
|
rs1261943601
|
0.00001
|
NM_001148.6(ANK2):c.3979A>G (p.Met1327Val)
|
rs778074732
|
0.00001
|
NM_001148.6(ANK2):c.397C>G (p.Pro133Ala)
|
rs1275075425
|
0.00001
|
NM_001148.6(ANK2):c.4045A>G (p.Met1349Val)
|
rs765236990
|
0.00001
|
NM_001148.6(ANK2):c.4123-13T>C
|
rs759465783
|
0.00001
|
NM_001148.6(ANK2):c.4123-13del
|
rs1371663354
|
0.00001
|
NM_001148.6(ANK2):c.4125G>A (p.Val1375=)
|
rs767793694
|
0.00001
|
NM_001148.6(ANK2):c.4239A>G (p.Leu1413=)
|
rs770858212
|
0.00001
|
NM_001148.6(ANK2):c.4248+6dup
|
rs1205810294
|
0.00001
|
NM_001148.6(ANK2):c.4248+9T>C
|
rs776783690
|
0.00001
|
NM_001148.6(ANK2):c.4249G>A (p.Val1417Ile)
|
rs201966564
|
0.00001
|
NM_001148.6(ANK2):c.4275C>T (p.Cys1425=)
|
rs776983267
|
0.00001
|
NM_001148.6(ANK2):c.4284A>G (p.Leu1428=)
|
rs963639278
|
0.00001
|
NM_001148.6(ANK2):c.4371+5C>T
|
rs891690526
|
0.00001
|
NM_001148.6(ANK2):c.4372-8G>A
|
rs771323413
|
0.00001
|
NM_001148.6(ANK2):c.4393C>A (p.Gln1465Lys)
|
rs761254386
|
0.00001
|
NM_001148.6(ANK2):c.4412T>A (p.Met1471Lys)
|
rs1588822287
|
0.00001
|
NM_001148.6(ANK2):c.441A>T (p.Lys147Asn)
|
rs776735614
|
0.00001
|
NM_001148.6(ANK2):c.4432G>A (p.Glu1478Lys)
|
rs1183478602
|
0.00001
|
NM_001148.6(ANK2):c.4435A>G (p.Thr1479Ala)
|
rs1441559995
|
0.00001
|
NM_001148.6(ANK2):c.4453T>C (p.Ser1485Pro)
|
rs1174581645
|
0.00001
|
NM_001148.6(ANK2):c.4470C>T (p.His1490=)
|
rs950761799
|
0.00001
|
NM_001148.6(ANK2):c.4502C>T (p.Pro1501Leu)
|
rs201071074
|
0.00001
|
NM_001148.6(ANK2):c.4554C>T (p.Thr1518=)
|
rs747525865
|
0.00001
|
NM_001148.6(ANK2):c.4619C>T (p.Ala1540Val)
|
rs144447291
|
0.00001
|
NM_001148.6(ANK2):c.4687A>C (p.Asn1563His)
|
rs1476737595
|
0.00001
|
NM_001148.6(ANK2):c.468G>A (p.Gln156=)
|
rs886059008
|
0.00001
|
NM_001148.6(ANK2):c.4748C>T (p.Ser1583Phe)
|
rs774190348
|
0.00001
|
NM_001148.6(ANK2):c.483+15C>T
|
rs2099316979
|
0.00001
|
NM_001148.6(ANK2):c.4845A>T (p.Pro1615=)
|
rs927533605
|
0.00001
|
NM_001148.6(ANK2):c.4930C>A (p.Leu1644Met)
|
rs373344024
|
0.00001
|
NM_001148.6(ANK2):c.4995A>G (p.Lys1665=)
|
rs769675253
|
0.00001
|
NM_001148.6(ANK2):c.5109A>G (p.Pro1703=)
|
rs1418005876
|
0.00001
|
NM_001148.6(ANK2):c.5134C>A (p.Gln1712Lys)
|
rs201219746
|
0.00001
|
NM_001148.6(ANK2):c.5141A>G (p.Gln1714Arg)
|
rs1012849066
|
0.00001
|
NM_001148.6(ANK2):c.5148G>A (p.Glu1716=)
|
rs770887625
|
0.00001
|
NM_001148.6(ANK2):c.5153G>T (p.Gly1718Val)
|
rs141790688
|
0.00001
|
NM_001148.6(ANK2):c.5210T>C (p.Leu1737Ser)
|
rs1458341997
|
0.00001
|
NM_001148.6(ANK2):c.5230G>A (p.Ala1744Thr)
|
rs924439034
|
0.00001
|
NM_001148.6(ANK2):c.5327G>A (p.Arg1776Gln)
|
rs150207892
|
0.00001
|
NM_001148.6(ANK2):c.5376A>G (p.Lys1792=)
|
rs930905135
|
0.00001
|
NM_001148.6(ANK2):c.5456C>T (p.Ala1819Val)
|
rs753589550
|
0.00001
|
NM_001148.6(ANK2):c.5463G>A (p.Gly1821=)
|
rs758361128
|
0.00001
|
NM_001148.6(ANK2):c.5470T>C (p.Ser1824Pro)
|
rs199473344
|
0.00001
|
NM_001148.6(ANK2):c.547T>C (p.Leu183=)
|
rs146891854
|
0.00001
|
NM_001148.6(ANK2):c.5507C>G (p.Ser1836Cys)
|
rs2095587012
|
0.00001
|
NM_001148.6(ANK2):c.5508C>T (p.Ser1836=)
|
rs766217545
|
0.00001
|
NM_001148.6(ANK2):c.555T>G (p.Asn185Lys)
|
rs780370907
|
0.00001
|
NM_001148.6(ANK2):c.5597A>T (p.His1866Leu)
|
rs2095596617
|
0.00001
|
NM_001148.6(ANK2):c.5599T>G (p.Ser1867Ala)
|
rs771441107
|
0.00001
|
NM_001148.6(ANK2):c.5616G>A (p.Ser1872=)
|
rs761557717
|
0.00001
|
NM_001148.6(ANK2):c.5618G>A (p.Ser1873Asn)
|
rs1227210695
|
0.00001
|
NM_001148.6(ANK2):c.5638C>T (p.Pro1880Ser)
|
rs1262224136
|
0.00001
|
NM_001148.6(ANK2):c.5641G>T (p.Val1881Leu)
|
rs762824375
|
0.00001
|
NM_001148.6(ANK2):c.5648C>A (p.Pro1883His)
|
rs1182264095
|
0.00001
|
NM_001148.6(ANK2):c.56G>A (p.Ser19Asn)
|
rs369260005
|
0.00001
|
NM_001148.6(ANK2):c.5738G>A (p.Arg1913His)
|
rs1480689138
|
0.00001
|
NM_001148.6(ANK2):c.5773C>T (p.His1925Tyr)
|
rs1554553719
|
0.00001
|
NM_001148.6(ANK2):c.5787G>A (p.Ser1929=)
|
rs145614759
|
0.00001
|
NM_001148.6(ANK2):c.579G>A (p.Leu193=)
|
rs1382509585
|
0.00001
|
NM_001148.6(ANK2):c.5833A>T (p.Thr1945Ser)
|
rs527552716
|
0.00001
|
NM_001148.6(ANK2):c.5836G>A (p.Asp1946Asn)
|
rs200333546
|
0.00001
|
NM_001148.6(ANK2):c.5847A>G (p.Gln1949=)
|
rs751984665
|
0.00001
|
NM_001148.6(ANK2):c.5860G>T (p.Ala1954Ser)
|
rs371556220
|
0.00001
|
NM_001148.6(ANK2):c.5913G>A (p.Lys1971=)
|
rs776705641
|
0.00001
|
NM_001148.6(ANK2):c.5957A>G (p.Glu1986Gly)
|
rs1455187261
|
0.00001
|
NM_001148.6(ANK2):c.5981T>G (p.Met1994Arg)
|
rs1217769701
|
0.00001
|
NM_001148.6(ANK2):c.6060G>A (p.Gln2020=)
|
rs1244990938
|
0.00001
|
NM_001148.6(ANK2):c.6105G>A (p.Pro2035=)
|
rs757880191
|
0.00001
|
NM_001148.6(ANK2):c.610G>A (p.Asp204Asn)
|
rs1323749557
|
0.00001
|
NM_001148.6(ANK2):c.6147A>T (p.Thr2049=)
|
rs372014591
|
0.00001
|
NM_001148.6(ANK2):c.6185C>G (p.Ala2062Gly)
|
rs1194235291
|
0.00001
|
NM_001148.6(ANK2):c.6285T>G (p.Pro2095=)
|
rs761106853
|
0.00001
|
NM_001148.6(ANK2):c.630T>C (p.Leu210=)
|
rs759688702
|
0.00001
|
NM_001148.6(ANK2):c.6318A>G (p.Arg2106=)
|
rs762414760
|
0.00001
|
NM_001148.6(ANK2):c.6324C>T (p.Ser2108=)
|
rs765932856
|
0.00001
|
NM_001148.6(ANK2):c.6364A>G (p.Met2122Val)
|
rs745883307
|
0.00001
|
NM_001148.6(ANK2):c.6432G>A (p.Leu2144=)
|
rs773867500
|
0.00001
|
NM_001148.6(ANK2):c.6492T>G (p.Leu2164=)
|
rs1060504152
|
0.00001
|
NM_001148.6(ANK2):c.6545A>G (p.Tyr2182Cys)
|
rs1421417952
|
0.00001
|
NM_001148.6(ANK2):c.657C>T (p.Asp219=)
|
rs761137041
|
0.00001
|
NM_001148.6(ANK2):c.6586G>A (p.Gly2196Ser)
|
rs776545207
|
0.00001
|
NM_001148.6(ANK2):c.658G>A (p.Val220Ile)
|
rs764633047
|
0.00001
|
NM_001148.6(ANK2):c.6627G>T (p.Gly2209=)
|
rs755239682
|
0.00001
|
NM_001148.6(ANK2):c.6666C>A (p.Thr2222=)
|
rs773101190
|
0.00001
|
NM_001148.6(ANK2):c.6678T>G (p.Ser2226Arg)
|
rs1345711282
|
0.00001
|
NM_001148.6(ANK2):c.667A>G (p.Lys223Glu)
|
rs2099389632
|
0.00001
|
NM_001148.6(ANK2):c.6705C>T (p.Gly2235=)
|
rs377644448
|
0.00001
|
NM_001148.6(ANK2):c.6820C>T (p.Arg2274Cys)
|
rs140258681
|
0.00001
|
NM_001148.6(ANK2):c.6842C>T (p.Thr2281Met)
|
rs757584252
|
0.00001
|
NM_001148.6(ANK2):c.684G>A (p.Arg228=)
|
rs376024223
|
0.00001
|
NM_001148.6(ANK2):c.6875G>A (p.Arg2292Gln)
|
rs1350377647
|
0.00001
|
NM_001148.6(ANK2):c.6883A>G (p.Thr2295Ala)
|
rs1276641904
|
0.00001
|
NM_001148.6(ANK2):c.693+20C>A
|
rs759313576
|
0.00001
|
NM_001148.6(ANK2):c.7025G>C (p.Gly2342Ala)
|
rs747137923
|
0.00001
|
NM_001148.6(ANK2):c.7082A>G (p.His2361Arg)
|
rs745718831
|
0.00001
|
NM_001148.6(ANK2):c.7120G>T (p.Ala2374Ser)
|
rs763277342
|
0.00001
|
NM_001148.6(ANK2):c.7169A>T (p.Lys2390Met)
|
rs769894397
|
0.00001
|
NM_001148.6(ANK2):c.7184C>A (p.Thr2395Asn)
|
rs774869878
|
0.00001
|
NM_001148.6(ANK2):c.7247G>A (p.Arg2416Gln)
|
rs766001488
|
0.00001
|
NM_001148.6(ANK2):c.7249G>C (p.Asp2417His)
|
rs372545180
|
0.00001
|
NM_001148.6(ANK2):c.7255G>A (p.Glu2419Lys)
|
rs752704424
|
0.00001
|
NM_001148.6(ANK2):c.7307C>T (p.Ser2436Phe)
|
rs761246790
|
0.00001
|
NM_001148.6(ANK2):c.7392T>C (p.Pro2464=)
|
rs1214317931
|
0.00001
|
NM_001148.6(ANK2):c.742G>A (p.Val248Met)
|
rs752395758
|
0.00001
|
NM_001148.6(ANK2):c.7452A>G (p.Pro2484=)
|
rs769272083
|
0.00001
|
NM_001148.6(ANK2):c.7518G>T (p.Arg2506=)
|
rs747440582
|
0.00001
|
NM_001148.6(ANK2):c.7523G>A (p.Arg2508Gln)
|
rs781486011
|
0.00001
|
NM_001148.6(ANK2):c.7528C>T (p.Leu2510Phe)
|
rs1293101023
|
0.00001
|
NM_001148.6(ANK2):c.7532G>A (p.Arg2511Gln)
|
rs142684331
|
0.00001
|
NM_001148.6(ANK2):c.7546A>G (p.Ser2516Gly)
|
rs771826064
|
0.00001
|
NM_001148.6(ANK2):c.7587G>A (p.Glu2529=)
|
rs936860550
|
0.00001
|
NM_001148.6(ANK2):c.7742G>A (p.Arg2581Lys)
|
rs369041815
|
0.00001
|
NM_001148.6(ANK2):c.7743G>T (p.Arg2581Ser)
|
rs544735923
|
0.00001
|
NM_001148.6(ANK2):c.7828G>T (p.Asp2610Tyr)
|
rs767768290
|
0.00001
|
NM_001148.6(ANK2):c.7848A>G (p.Lys2616=)
|
rs1334157294
|
0.00001
|
NM_001148.6(ANK2):c.7866A>G (p.Ser2622=)
|
rs1261397512
|
0.00001
|
NM_001148.6(ANK2):c.7915C>G (p.His2639Asp)
|
rs529384341
|
0.00001
|
NM_001148.6(ANK2):c.7929G>A (p.Gly2643=)
|
rs776923550
|
0.00001
|
NM_001148.6(ANK2):c.7943G>A (p.Gly2648Asp)
|
rs563254150
|
0.00001
|
NM_001148.6(ANK2):c.7969A>G (p.Ser2657Gly)
|
rs144318707
|
0.00001
|
NM_001148.6(ANK2):c.8006A>T (p.Glu2669Val)
|
rs773643165
|
0.00001
|
NM_001148.6(ANK2):c.8019T>C (p.Leu2673=)
|
rs200735587
|
0.00001
|
NM_001148.6(ANK2):c.8039G>A (p.Gly2680Asp)
|
rs753552817
|
0.00001
|
NM_001148.6(ANK2):c.8057T>C (p.Val2686Ala)
|
rs56095304
|
0.00001
|
NM_001148.6(ANK2):c.805C>T (p.Pro269Ser)
|
rs1260008727
|
0.00001
|
NM_001148.6(ANK2):c.8063G>A (p.Arg2688Gln)
|
rs142107156
|
0.00001
|
NM_001148.6(ANK2):c.8078C>T (p.Ser2693Phe)
|
rs1455581919
|
0.00001
|
NM_001148.6(ANK2):c.8088A>G (p.Pro2696=)
|
rs747137546
|
0.00001
|
NM_001148.6(ANK2):c.8137G>T (p.Val2713Phe)
|
rs774978146
|
0.00001
|
NM_001148.6(ANK2):c.8175T>C (p.Asp2725=)
|
rs754804134
|
0.00001
|
NM_001148.6(ANK2):c.8214T>C (p.Asp2738=)
|
rs180936398
|
0.00001
|
NM_001148.6(ANK2):c.8261C>T (p.Ala2754Val)
|
rs878854261
|
0.00001
|
NM_001148.6(ANK2):c.827G>A (p.Arg276Lys)
|
rs786205719
|
0.00001
|
NM_001148.6(ANK2):c.8375G>A (p.Gly2792Asp)
|
rs957787977
|
0.00001
|
NM_001148.6(ANK2):c.84+7C>T
|
rs762973067
|
0.00001
|
NM_001148.6(ANK2):c.8404G>C (p.Asp2802His)
|
rs780423161
|
0.00001
|
NM_001148.6(ANK2):c.8409A>G (p.Glu2803=)
|
rs74743698
|
0.00001
|
NM_001148.6(ANK2):c.8447G>A (p.Gly2816Asp)
|
rs199538455
|
0.00001
|
NM_001148.6(ANK2):c.84G>A (p.Lys28=)
|
rs139765650
|
0.00001
|
NM_001148.6(ANK2):c.8543C>T (p.Ser2848Phe)
|
rs1060501155
|
0.00001
|
NM_001148.6(ANK2):c.8564T>C (p.Val2855Ala)
|
rs2095842682
|
0.00001
|
NM_001148.6(ANK2):c.868G>A (p.Gly290Ser)
|
rs761620495
|
0.00001
|
NM_001148.6(ANK2):c.8759A>G (p.Tyr2920Cys)
|
rs781185140
|
0.00001
|
NM_001148.6(ANK2):c.8768A>G (p.Gln2923Arg)
|
rs551454026
|
0.00001
|
NM_001148.6(ANK2):c.882C>G (p.Ala294=)
|
rs758330357
|
0.00001
|
NM_001148.6(ANK2):c.8867C>G (p.Ser2956Cys)
|
rs754378659
|
0.00001
|
NM_001148.6(ANK2):c.8934T>G (p.Ser2978Arg)
|
rs972912523
|
0.00001
|
NM_001148.6(ANK2):c.8955A>G (p.Glu2985=)
|
rs377317854
|
0.00001
|
NM_001148.6(ANK2):c.8959A>G (p.Asn2987Asp)
|
rs745914652
|
0.00001
|
NM_001148.6(ANK2):c.9045C>T (p.Phe3015=)
|
rs1211416297
|
0.00001
|
NM_001148.6(ANK2):c.9173G>A (p.Arg3058His)
|
rs730880048
|
0.00001
|
NM_001148.6(ANK2):c.9175G>T (p.Val3059Leu)
|
rs761458371
|
0.00001
|
NM_001148.6(ANK2):c.9185A>G (p.Glu3062Gly)
|
rs1029760186
|
0.00001
|
NM_001148.6(ANK2):c.9210G>A (p.Met3070Ile)
|
rs750360259
|
0.00001
|
NM_001148.6(ANK2):c.921A>G (p.Ala307=)
|
rs1586090494
|
0.00001
|
NM_001148.6(ANK2):c.9225A>T (p.Ser3075=)
|
rs147809741
|
0.00001
|
NM_001148.6(ANK2):c.9404G>T (p.Gly3135Val)
|
rs140683986
|
0.00001
|
NM_001148.6(ANK2):c.9409G>C (p.Glu3137Gln)
|
rs779273162
|
0.00001
|
NM_001148.6(ANK2):c.9471A>G (p.Leu3157=)
|
rs1300523414
|
0.00001
|
NM_001148.6(ANK2):c.9473C>T (p.Pro3158Leu)
|
rs760298528
|
0.00001
|
NM_001148.6(ANK2):c.9495A>C (p.Ser3165=)
|
rs2095919894
|
0.00001
|
NM_001148.6(ANK2):c.9499G>A (p.Ala3167Thr)
|
rs868306842
|
0.00001
|
NM_001148.6(ANK2):c.9520A>G (p.Thr3174Ala)
|
rs560480810
|
0.00001
|
NM_001148.6(ANK2):c.9546T>C (p.Leu3182=)
|
rs762601575
|
0.00001
|
NM_001148.6(ANK2):c.9555C>T (p.Asp3185=)
|
rs371509239
|
0.00001
|
NM_001148.6(ANK2):c.9587C>T (p.Ser3196Leu)
|
rs144719173
|
0.00001
|
NM_001148.6(ANK2):c.9598C>T (p.Leu3200Phe)
|
rs750774547
|
0.00001
|
NM_001148.6(ANK2):c.9606C>T (p.Ser3202=)
|
rs370760271
|
0.00001
|
NM_001148.6(ANK2):c.9656G>T (p.Ser3219Ile)
|
rs371919804
|
0.00001
|
NM_001148.6(ANK2):c.9665C>A (p.Thr3222Asn)
|
rs2095939172
|
0.00001
|
NM_001148.6(ANK2):c.9688A>G (p.Thr3230Ala)
|
rs200594514
|
0.00001
|
NM_001148.6(ANK2):c.9689C>T (p.Thr3230Met)
|
rs752093696
|
0.00001
|
NM_001148.6(ANK2):c.9704C>T (p.Pro3235Leu)
|
rs748801701
|
0.00001
|
NM_001148.6(ANK2):c.9729C>T (p.Ser3243=)
|
rs2095947879
|
0.00001
|
NM_001148.6(ANK2):c.9735C>T (p.Pro3245=)
|
rs572502923
|
0.00001
|
NM_001148.6(ANK2):c.9823G>A (p.Asp3275Asn)
|
rs1334864660
|
0.00001
|
NM_001148.6(ANK2):c.9829T>C (p.Ser3277Pro)
|
rs753345794
|
0.00001
|
NM_001148.6(ANK2):c.9856G>A (p.Glu3286Lys)
|
rs768536932
|
0.00001
|
NM_001148.6(ANK2):c.9859A>T (p.Ile3287Phe)
|
rs781204799
|
0.00001
|
NM_001148.6(ANK2):c.9880A>C (p.Asn3294His)
|
rs763211298
|
0.00001
|
NM_001148.6(ANK2):c.9926T>C (p.Met3309Thr)
|
rs1430897546
|
0.00001
|
NM_001148.6(ANK2):c.9955G>A (p.Ala3319Thr)
|
rs754809421
|
0.00001
|
NM_001167623.2(CACNA1C):c.1122C>T (p.Asp374=)
|
rs374268470
|
0.00001
|
NM_001167623.2(CACNA1C):c.1186G>A (p.Val396Ile)
|
rs762756712
|
0.00001
|
NM_001167623.2(CACNA1C):c.1212G>A (p.Leu404=)
|
rs1334409535
|
0.00001
|
NM_001276345.2(TNNT2):c.100C>A (p.Gln34Lys)
|
rs1350800220
|
0.00001
|
NM_001276345.2(TNNT2):c.105G>T (p.Glu35Asp)
|
rs1660031053
|
0.00001
|
NM_001276345.2(TNNT2):c.135G>A (p.Glu45=)
|
rs756174289
|
0.00001
|
NM_001276345.2(TNNT2):c.136G>C (p.Ala46Pro)
|
rs397516447
|
0.00001
|
NM_001276345.2(TNNT2):c.144C>T (p.Thr48=)
|
rs746492909
|
0.00001
|
NM_001276345.2(TNNT2):c.145G>A (p.Glu49Lys)
|
rs757526942
|
0.00001
|
NM_001276345.2(TNNT2):c.153C>G (p.Thr51=)
|
rs1347127737
|
0.00001
|
NM_001276345.2(TNNT2):c.163+13T>C
|
rs527486692
|
0.00001
|
NM_001276345.2(TNNT2):c.163+1G>T
|
rs113051005
|
0.00001
|
NM_001276345.2(TNNT2):c.164-11G>A
|
rs1410150306
|
0.00001
|
NM_001276345.2(TNNT2):c.164-13G>A
|
rs369469475
|
0.00001
|
NM_001276345.2(TNNT2):c.192G>A (p.Glu64=)
|
rs1180516886
|
0.00001
|
NM_001276345.2(TNNT2):c.199+12A>G
|
rs904874768
|
0.00001
|
NM_001276345.2(TNNT2):c.200-4C>G
|
rs397516448
|
0.00001
|
NM_001276345.2(TNNT2):c.20T>C (p.Val7Ala)
|
rs970498944
|
0.00001
|
NM_001276345.2(TNNT2):c.21G>T (p.Val7=)
|
rs777128825
|
0.00001
|
NM_001276345.2(TNNT2):c.222A>G (p.Lys74=)
|
rs781024179
|
0.00001
|
NM_001276345.2(TNNT2):c.230C>T (p.Pro77Leu)
|
rs769040140
|
0.00001
|
NM_001276345.2(TNNT2):c.233+6T>C
|
rs397516449
|
0.00001
|
NM_001276345.2(TNNT2):c.254T>G (p.Val85Gly)
|
rs730881095
|
0.00001
|
NM_001276345.2(TNNT2):c.255G>A (p.Val85=)
|
rs780115529
|
0.00001
|
NM_001276345.2(TNNT2):c.265A>T (p.Ile89Phe)
|
rs746297911
|
0.00001
|
NM_001276345.2(TNNT2):c.273T>C (p.Asp91=)
|
rs763782935
|
0.00001
|
NM_001276345.2(TNNT2):c.277G>A (p.Glu93Lys)
|
rs727504244
|
0.00001
|
NM_001276345.2(TNNT2):c.281dup (p.Val95fs)
|
rs780087395
|
0.00001
|
NM_001276345.2(TNNT2):c.287A>C (p.Asp96Ala)
|
rs397516455
|
0.00001
|
NM_001276345.2(TNNT2):c.304C>T (p.Arg102Trp)
|
rs397516456
|
0.00001
|
NM_001276345.2(TNNT2):c.305G>A (p.Arg102Gln)
|
rs121964856
|
0.00001
|
NM_001276345.2(TNNT2):c.33C>T (p.Tyr11=)
|
rs148027842
|
0.00001
|
NM_001276345.2(TNNT2):c.349G>A (p.Glu117Lys)
|
rs730881099
|
0.00001
|
NM_001276345.2(TNNT2):c.360T>G (p.Phe120Leu)
|
rs727504331
|
0.00001
|
NM_001276345.2(TNNT2):c.390C>T (p.Leu130=)
|
rs758543857
|
0.00001
|
NM_001276345.2(TNNT2):c.395C>G (p.Ser132Cys)
|
rs1659426786
|
0.00001
|
NM_001276345.2(TNNT2):c.39G>A (p.Glu13=)
|
rs727503516
|
0.00001
|
NM_001276345.2(TNNT2):c.404A>T (p.Asp135Val)
|
rs759758840
|
0.00001
|
NM_001276345.2(TNNT2):c.405C>T (p.Asp135=)
|
rs1161852405
|
0.00001
|
NM_001276345.2(TNNT2):c.411+18C>T
|
rs1384231060
|
0.00001
|
NM_001276345.2(TNNT2):c.411+1G>A
|
rs766666484
|
0.00001
|
NM_001276345.2(TNNT2):c.411C>T (p.Ile137=)
|
rs727504322
|
0.00001
|
NM_001276345.2(TNNT2):c.412-14C>A
|
rs745721749
|
0.00001
|
NM_001276345.2(TNNT2):c.412-8C>T
|
rs781240506
|
0.00001
|
NM_001276345.2(TNNT2):c.412G>A (p.Glu138Lys)
|
rs730881100
|
0.00001
|
NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys)
|
rs397516463
|
0.00001
|
NM_001276345.2(TNNT2):c.419G>A (p.Arg140His)
|
rs1339922051
|
0.00001
|
NM_001276345.2(TNNT2):c.431G>A (p.Arg144Gln)
|
rs754037135
|
0.00001
|
NM_001276345.2(TNNT2):c.438G>T (p.Glu146Asp)
|
rs141754300
|
0.00001
|
NM_001276345.2(TNNT2):c.450C>T (p.Ile150=)
|
rs200604266
|
0.00001
|
NM_001276345.2(TNNT2):c.452G>A (p.Arg151Gln)
|
rs730881101
|
0.00001
|
NM_001276345.2(TNNT2):c.459G>A (p.Glu153=)
|
rs775274966
|
0.00001
|
NM_001276345.2(TNNT2):c.472C>T (p.Arg158Trp)
|
rs730881123
|
0.00001
|
NM_001276345.2(TNNT2):c.473G>A (p.Arg158Gln)
|
rs730881102
|
0.00001
|
NM_001276345.2(TNNT2):c.482G>A (p.Arg161His)
|
rs201048783
|
0.00001
|
NM_001276345.2(TNNT2):c.487G>T (p.Ala163Ser)
|
rs727505030
|
0.00001
|
NM_001276345.2(TNNT2):c.490-1G>C
|
rs111344408
|
0.00001
|
NM_001276345.2(TNNT2):c.52+16T>C
|
rs372210580
|
0.00001
|
NM_001276345.2(TNNT2):c.52+6C>T
|
rs397516472
|
0.00001
|
NM_001276345.2(TNNT2):c.522C>T (p.Asn174=)
|
rs483352833
|
0.00001
|
NM_001276345.2(TNNT2):c.557A>C (p.Lys186Thr)
|
rs1486862820
|
0.00001
|
NM_001276345.2(TNNT2):c.600+11A>G
|
rs1377139344
|
0.00001
|
NM_001276345.2(TNNT2):c.600+8G>C
|
rs1387765771
|
0.00001
|
NM_001276345.2(TNNT2):c.600+9G>C
|
rs760490476
|
0.00001
|
NM_001276345.2(TNNT2):c.601-1G>A
|
rs483352835
|
0.00001
|
NM_001276345.2(TNNT2):c.610-6C>T
|
rs45516702
|
0.00001
|
NM_001276345.2(TNNT2):c.613G>A (p.Glu205Lys)
|
rs150008205
|
0.00001
|
NM_001276345.2(TNNT2):c.642G>A (p.Glu214=)
|
rs772300998
|
0.00001
|
NM_001276345.2(TNNT2):c.659A>T (p.Lys220Met)
|
rs190805300
|
0.00001
|
NM_001276345.2(TNNT2):c.67+12A>G
|
rs138757060
|
0.00001
|
NM_001276345.2(TNNT2):c.677G>A (p.Arg226Lys)
|
rs1205564576
|
0.00001
|
NM_001276345.2(TNNT2):c.67G>A (p.Glu23Lys)
|
rs772966842
|
0.00001
|
NM_001276345.2(TNNT2):c.720-14C>A
|
rs761998371
|
0.00001
|
NM_001276345.2(TNNT2):c.720-3C>T
|
rs373092494
|
0.00001
|
NM_001276345.2(TNNT2):c.720-9C>A
|
rs763204242
|
0.00001
|
NM_001276345.2(TNNT2):c.752A>G (p.Tyr251Cys)
|
rs200500421
|
0.00001
|
NM_001276345.2(TNNT2):c.775G>A (p.Asp259Asn)
|
rs141805127
|
0.00001
|
NM_001276345.2(TNNT2):c.778C>T (p.Leu260=)
|
rs977853063
|
0.00001
|
NM_001276345.2(TNNT2):c.803A>T (p.Lys268Ile)
|
rs397516482
|
0.00001
|
NM_001276345.2(TNNT2):c.810+1G>A
|
rs113874623
|
0.00001
|
NM_001276345.2(TNNT2):c.810+8G>A
|
rs369645817
|
0.00001
|
NM_001276345.2(TNNT2):c.811-4G>A
|
rs1431082504
|
0.00001
|
NM_001276345.2(TNNT2):c.815A>G (p.Asn272Ser)
|
rs397516483
|
0.00001
|
NM_001276345.2(TNNT2):c.835A>G (p.Asn279Asp)
|
rs4523540
|
0.00001
|
NM_001276345.2(TNNT2):c.852-18G>A
|
rs778928540
|
0.00001
|
NM_001276345.2(TNNT2):c.861C>A (p.Thr287=)
|
rs754211195
|
0.00001
|
NM_001276345.2(TNNT2):c.886C>T (p.Arg296Cys)
|
rs367785431
|
0.00001
|
NM_001276345.2(TNNT2):c.890G>A (p.Trp297Ter)
|
rs727504247
|
0.00001
|
NM_001308093.3(GATA4):c.1001-13T>C
|
rs913114491
|
0.00001
|
NM_001308093.3(GATA4):c.1008A>G (p.Ser336=)
|
rs752425131
|
0.00001
|
NM_001308093.3(GATA4):c.1031C>T (p.Ala344Val)
|
rs1199535707
|
0.00001
|
NM_001308093.3(GATA4):c.1036G>A (p.Gly346Ser)
|
rs779421943
|
0.00001
|
NM_001308093.3(GATA4):c.1060G>A (p.Ala354Thr)
|
rs770938655
|
0.00001
|
NM_001308093.3(GATA4):c.1077C>T (p.Ser359=)
|
rs375407669
|
0.00001
|
NM_001308093.3(GATA4):c.1088G>A (p.Arg363His)
|
rs139893755
|
0.00001
|
NM_001308093.3(GATA4):c.1095C>A (p.Ile365=)
|
rs1554498776
|
0.00001
|
NM_001308093.3(GATA4):c.1104G>A (p.Glu368=)
|
rs769775284
|
0.00001
|
NM_001308093.3(GATA4):c.1149+8C>T
|
rs1490422997
|
0.00001
|
NM_001308093.3(GATA4):c.1149G>A (p.Gln383=)
|
rs751950851
|
0.00001
|
NM_001308093.3(GATA4):c.1150-7T>C
|
rs776340600
|
0.00001
|
NM_001308093.3(GATA4):c.1151C>T (p.Thr384Met)
|
rs759067821
|
0.00001
|
NM_001308093.3(GATA4):c.1160T>C (p.Val387Ala)
|
rs368991748
|
0.00001
|
NM_001308093.3(GATA4):c.1161C>T (p.Val387=)
|
rs372993566
|
0.00001
|
NM_001308093.3(GATA4):c.1166C>A (p.Ala389Glu)
|
rs376885265
|
0.00001
|
NM_001308093.3(GATA4):c.1200C>A (p.Val400=)
|
rs778818575
|
0.00001
|
NM_001308093.3(GATA4):c.1240C>G (p.Pro414Ala)
|
rs1217555878
|
0.00001
|
NM_001308093.3(GATA4):c.1241C>T (p.Pro414Leu)
|
rs773626580
|
0.00001
|
NM_001308093.3(GATA4):c.1242C>T (p.Pro414=)
|
rs761007335
|
0.00001
|
NM_001308093.3(GATA4):c.125C>A (p.Pro42Gln)
|
rs766590532
|
0.00001
|
NM_001308093.3(GATA4):c.1262C>G (p.Thr421Ser)
|
rs114839964
|
0.00001
|
NM_001308093.3(GATA4):c.1303G>A (p.Asp435Asn)
|
rs745543448
|
0.00001
|
NM_001308093.3(GATA4):c.1318A>G (p.Ile440Val)
|
rs772619099
|
0.00001
|
NM_001308093.3(GATA4):c.143T>G (p.Val48Gly)
|
rs1272999942
|
0.00001
|
NM_001308093.3(GATA4):c.159C>T (p.Tyr53=)
|
rs1258554563
|
0.00001
|
NM_001308093.3(GATA4):c.193G>A (p.Gly65Ser)
|
rs1399618529
|
0.00001
|
NM_001308093.3(GATA4):c.19A>G (p.Met7Val)
|
rs899023750
|
0.00001
|
NM_001308093.3(GATA4):c.206G>T (p.Gly69Val)
|
rs938776629
|
0.00001
|
NM_001308093.3(GATA4):c.214G>T (p.Gly72Cys)
|
rs1310454033
|
0.00001
|
NM_001308093.3(GATA4):c.223G>T (p.Ala75Ser)
|
rs556967140
|
0.00001
|
NM_001308093.3(GATA4):c.234G>A (p.Ala78=)
|
rs756850527
|
0.00001
|
NM_001308093.3(GATA4):c.241G>A (p.Gly81Arg)
|
rs1466334264
|
0.00001
|
NM_001308093.3(GATA4):c.263G>T (p.Gly88Val)
|
rs980402710
|
0.00001
|
NM_001308093.3(GATA4):c.269G>C (p.Ser90Thr)
|
rs925893907
|
0.00001
|
NM_001308093.3(GATA4):c.278G>C (p.Gly93Ala)
|
rs56191129
|
0.00001
|
NM_001308093.3(GATA4):c.336G>A (p.Gly112=)
|
rs748572046
|
0.00001
|
NM_001308093.3(GATA4):c.349C>G (p.Leu117Val)
|
rs1265057798
|
0.00001
|
NM_001308093.3(GATA4):c.375G>A (p.Ala125=)
|
rs1368525776
|
0.00001
|
NM_001308093.3(GATA4):c.404G>A (p.Gly135Asp)
|
rs1386927055
|
0.00001
|
NM_001308093.3(GATA4):c.418G>A (p.Gly140Ser)
|
rs1185285048
|
0.00001
|
NM_001308093.3(GATA4):c.41C>G (p.Pro14Arg)
|
rs996317979
|
0.00001
|
NM_001308093.3(GATA4):c.457G>A (p.Gly153Ser)
|
rs1554488611
|
0.00001
|
NM_001308093.3(GATA4):c.464C>T (p.Ala155Val)
|
rs1800021074
|
0.00001
|
NM_001308093.3(GATA4):c.467G>T (p.Gly156Val)
|
rs1168049106
|
0.00001
|
NM_001308093.3(GATA4):c.491C>T (p.Ala164Val)
|
rs1425061772
|
0.00001
|
NM_001308093.3(GATA4):c.510C>A (p.Gly170=)
|
rs1272768214
|
0.00001
|
NM_001308093.3(GATA4):c.55G>A (p.Glu19Lys)
|
rs1139240
|
0.00001
|
NM_001308093.3(GATA4):c.576G>T (p.Leu192=)
|
rs1189744811
|
0.00001
|
NM_001308093.3(GATA4):c.582C>T (p.Gly194=)
|
rs1467767687
|
0.00001
|
NM_001308093.3(GATA4):c.588C>T (p.Ala196=)
|
rs1060503829
|
0.00001
|
NM_001308093.3(GATA4):c.592C>T (p.Pro198Ser)
|
rs1359707472
|
0.00001
|
NM_001308093.3(GATA4):c.594G>A (p.Pro198=)
|
rs1213779475
|
0.00001
|
NM_001308093.3(GATA4):c.608C>G (p.Pro203Arg)
|
rs1049056938
|
0.00001
|
NM_001308093.3(GATA4):c.616+18G>T
|
rs1174507680
|
0.00001
|
NM_001308093.3(GATA4):c.618A>G (p.Val206=)
|
rs1405855570
|
0.00001
|
NM_001308093.3(GATA4):c.626T>C (p.Phe209Ser)
|
rs1255379844
|
0.00001
|
NM_001308093.3(GATA4):c.631G>A (p.Asp211Asn)
|
rs377673676
|
0.00001
|
NM_001308093.3(GATA4):c.640G>C (p.Glu214Gln)
|
rs370946998
|
0.00001
|
NM_001308093.3(GATA4):c.645C>T (p.Gly215=)
|
rs1411266373
|
0.00001
|
NM_001308093.3(GATA4):c.69C>T (p.Pro23=)
|
rs1411452741
|
0.00001
|
NM_001308093.3(GATA4):c.727G>A (p.Gly243Ser)
|
rs1060500082
|
0.00001
|
NM_001308093.3(GATA4):c.732C>G (p.Leu244=)
|
rs200443296
|
0.00001
|
NM_001308093.3(GATA4):c.748G>A (p.Gly250Ser)
|
rs1431297203
|
0.00001
|
NM_001308093.3(GATA4):c.768C>A (p.Ile256=)
|
rs760250504
|
0.00001
|
NM_001308093.3(GATA4):c.773C>T (p.Pro258Leu)
|
rs753457161
|
0.00001
|
NM_001308093.3(GATA4):c.782G>A (p.Arg261Gln)
|
rs1245034279
|
0.00001
|
NM_001308093.3(GATA4):c.784C>G (p.Leu262Val)
|
rs759095800
|
0.00001
|
NM_001308093.3(GATA4):c.786+11G>A
|
rs1165880305
|
0.00001
|
NM_001308093.3(GATA4):c.787-3C>T
|
rs758327243
|
0.00001
|
NM_001308093.3(GATA4):c.800G>A (p.Arg267Gln)
|
rs1305097777
|
0.00001
|
NM_001308093.3(GATA4):c.83A>G (p.His28Arg)
|
rs534250566
|
0.00001
|
NM_001308093.3(GATA4):c.855C>T (p.Arg285=)
|
rs758475308
|
0.00001
|
NM_001308093.3(GATA4):c.906C>T (p.Leu302=)
|
rs1289378857
|
0.00001
|
NM_001308093.3(GATA4):c.912+7G>T
|
rs759872773
|
0.00001
|
NM_001308093.3(GATA4):c.912G>A (p.Gly304=)
|
rs773684507
|
0.00001
|
NM_001308093.3(GATA4):c.913-5T>G
|
rs935306106
|
0.00001
|
NM_001308093.3(GATA4):c.931A>T (p.Met311Leu)
|
rs387906772
|
0.00001
|
NM_001308093.3(GATA4):c.94G>A (p.Ala32Thr)
|
rs773545065
|
0.00001
|
NM_001308093.3(GATA4):c.969C>G (p.Pro323=)
|
rs1802489642
|
0.00001
|
NM_001308093.3(GATA4):c.976C>G (p.Leu326Val)
|
rs775993607
|
0.00001
|
NM_001308093.3(GATA4):c.98C>T (p.Ala33Val)
|
rs989115054
|
0.00001
|
NM_001386795.1(DTNA):c.1002-2320T>A
|
rs1268810426
|
0.00001
|
NM_001386795.1(DTNA):c.1002-2332C>A
|
rs1212752013
|
0.00001
|
NM_001386795.1(DTNA):c.1030G>A (p.Asp344Asn)
|
rs374347283
|
0.00001
|
NM_001386795.1(DTNA):c.1251A>G (p.Lys417=)
|
rs752820082
|
0.00001
|
NM_001386795.1(DTNA):c.1259A>G (p.Gln420Arg)
|
rs754697522
|
0.00001
|
NM_001386795.1(DTNA):c.1309G>A (p.Gly437Arg)
|
rs373427602
|
0.00001
|
NM_001386795.1(DTNA):c.1324A>G (p.Met442Val)
|
rs763206573
|
0.00001
|
NM_001386795.1(DTNA):c.1345T>C (p.Cys449Arg)
|
rs377526715
|
0.00001
|
NM_001386795.1(DTNA):c.1347-1G>A
|
rs772088612
|
0.00001
|
NM_001386795.1(DTNA):c.1352T>C (p.Leu451Pro)
|
rs2096416305
|
0.00001
|
NM_001386795.1(DTNA):c.1397G>C (p.Arg466Thr)
|
rs762579551
|
0.00001
|
NM_001386795.1(DTNA):c.1435-11A>G
|
rs758607581
|
0.00001
|
NM_001386795.1(DTNA):c.1444C>G (p.Gln482Glu)
|
rs775527586
|
0.00001
|
NM_001386795.1(DTNA):c.146A>G (p.Asn49Ser)
|
rs775975702
|
0.00001
|
NM_001386795.1(DTNA):c.1484C>T (p.Ala495Val)
|
rs760288717
|
0.00001
|
NM_001386795.1(DTNA):c.1491G>A (p.Lys497=)
|
rs397517444
|
0.00001
|
NM_001386795.1(DTNA):c.1532+17G>A
|
rs777993752
|
0.00001
|
NM_001386795.1(DTNA):c.1533-6C>G
|
rs1238846335
|
0.00001
|
NM_001386795.1(DTNA):c.1562G>A (p.Arg521Gln)
|
rs530066221
|
0.00001
|
NM_001386795.1(DTNA):c.1598A>G (p.Glu533Gly)
|
rs546897344
|
0.00001
|
NM_001386795.1(DTNA):c.1636C>T (p.Arg546Trp)
|
rs371363393
|
0.00001
|
NM_001386795.1(DTNA):c.1695C>T (p.Ser565=)
|
rs774966330
|
0.00001
|
NM_001386795.1(DTNA):c.1696C>T (p.Arg566Trp)
|
rs1173408567
|
0.00001
|
NM_001386795.1(DTNA):c.174C>T (p.Val58=)
|
rs145335092
|
0.00001
|
NM_001386795.1(DTNA):c.1753G>A (p.Ala585Thr)
|
rs767501382
|
0.00001
|
NM_001386795.1(DTNA):c.1820C>T (p.Ala607Val)
|
rs773170065
|
0.00001
|
NM_001386795.1(DTNA):c.1857C>T (p.Asp619=)
|
rs1437954707
|
0.00001
|
NM_001386795.1(DTNA):c.1903+19T>C
|
rs2096804951
|
0.00001
|
NM_001386795.1(DTNA):c.2101C>T (p.His701Tyr)
|
rs772866088
|
0.00001
|
NM_001386795.1(DTNA):c.2186A>G (p.Tyr729Cys)
|
rs756932426
|
0.00001
|
NM_001386795.1(DTNA):c.2195C>T (p.Pro732Leu)
|
rs1456993704
|
0.00001
|
NM_001386795.1(DTNA):c.2200G>A (p.Asp734Asn)
|
rs769251451
|
0.00001
|
NM_001386795.1(DTNA):c.2224G>T (p.Val742Phe)
|
rs533568822
|
0.00001
|
NM_001386795.1(DTNA):c.2228G>A (p.Arg743Gln)
|
rs371303988
|
0.00001
|
NM_001386795.1(DTNA):c.2265G>A (p.Leu755=)
|
rs1603352070
|
0.00001
|
NM_001386795.1(DTNA):c.2295+10T>A
|
rs376012937
|
0.00001
|
NM_001386795.1(DTNA):c.2295+15G>A
|
rs756945985
|
0.00001
|
NM_001386795.1(DTNA):c.264T>C (p.Ile88=)
|
rs776672964
|
0.00001
|
NM_001386795.1(DTNA):c.282A>G (p.Lys94=)
|
rs751436638
|
0.00001
|
NM_001386795.1(DTNA):c.295A>G (p.Thr99Ala)
|
rs200736432
|
0.00001
|
NM_001386795.1(DTNA):c.322A>G (p.Ile108Val)
|
rs1201061306
|
0.00001
|
NM_001386795.1(DTNA):c.476G>A (p.Ser159Asn)
|
rs147115867
|
0.00001
|
NM_001386795.1(DTNA):c.481G>A (p.Val161Met)
|
rs1302999147
|
0.00001
|
NM_001386795.1(DTNA):c.506A>G (p.Gln169Arg)
|
rs201674479
|
0.00001
|
NM_001386795.1(DTNA):c.54G>A (p.Leu18=)
|
rs754265551
|
0.00001
|
NM_001386795.1(DTNA):c.603+20A>G
|
rs371565552
|
0.00001
|
NM_001386795.1(DTNA):c.615G>A (p.Thr205=)
|
rs552069190
|
0.00001
|
NM_001386795.1(DTNA):c.633C>T (p.Asp211=)
|
rs1425308391
|
0.00001
|
NM_001386795.1(DTNA):c.646G>T (p.Asp216Tyr)
|
rs769662524
|
0.00001
|
NM_001386795.1(DTNA):c.660G>T (p.Gln220His)
|
rs1031348434
|
0.00001
|
NM_001386795.1(DTNA):c.68-5A>G
|
rs1243110074
|
0.00001
|
NM_001386795.1(DTNA):c.682C>T (p.Leu228=)
|
rs2095588092
|
0.00001
|
NM_001386795.1(DTNA):c.695C>T (p.Ala232Val)
|
rs771510372
|
0.00001
|
NM_001386795.1(DTNA):c.784C>T (p.His262Tyr)
|
rs369043538
|
0.00001
|
NM_001386795.1(DTNA):c.824A>G (p.His275Arg)
|
rs373047659
|
0.00001
|
NM_001386795.1(DTNA):c.829G>A (p.Gly277Ser)
|
rs1196384917
|
0.00001
|
NM_001386795.1(DTNA):c.837T>A (p.Ser279=)
|
rs560476760
|
0.00001
|
NM_001386795.1(DTNA):c.840T>C (p.His280=)
|
rs933476610
|
0.00001
|
NM_001386795.1(DTNA):c.864G>A (p.Glu288=)
|
rs778634462
|
0.00001
|
NM_001386795.1(DTNA):c.86G>A (p.Arg29His)
|
rs1249921119
|
0.00001
|
NM_001386795.1(DTNA):c.876+16G>A
|
rs913518501
|
0.00001
|
NM_001386795.1(DTNA):c.876+9A>G
|
rs933087416
|
0.00001
|
NM_001386795.1(DTNA):c.93A>G (p.Arg31=)
|
rs778817036
|
0.00001
|
NM_001386795.1(DTNA):c.944C>G (p.Pro315Arg)
|
rs138085660
|
0.00001
|
NM_001386795.1(DTNA):c.969G>C (p.Gln323His)
|
rs201472116
|
0.00001
|
NM_001386795.1(DTNA):c.96C>G (p.Leu32=)
|
rs1162412939
|
0.00001
|
NM_001743.6(CALM2):c.104C>T (p.Thr35Ile)
|
rs757523692
|
0.00001
|
NM_001743.6(CALM2):c.165A>G (p.Glu55=)
|
rs1687190320
|
0.00001
|
NM_001743.6(CALM2):c.285+14_285+20del
|
rs1481884663
|
0.00001
|
NM_001743.6(CALM2):c.3+9A>C
|
rs749288383
|
0.00001
|
NM_001743.6(CALM2):c.33A>G (p.Ala11=)
|
rs1324754202
|
0.00001
|
NM_001743.6(CALM2):c.379A>G (p.Arg127Gly)
|
rs775065505
|
0.00001
|
NM_001743.6(CALM2):c.429A>G (p.Val143=)
|
rs1400854272
|
0.00001
|
NM_001743.6(CALM2):c.79A>T (p.Thr27Ser)
|
rs1131691669
|
0.00001
|
NM_003098.3(SNTA1):c.1006C>T (p.Arg336Trp)
|
rs747104878
|
0.00001
|
NM_003098.3(SNTA1):c.1021G>A (p.Ala341Thr)
|
rs754242619
|
0.00001
|
NM_003098.3(SNTA1):c.1065G>T (p.Lys355Asn)
|
rs1989709760
|
0.00001
|
NM_003098.3(SNTA1):c.1104G>A (p.Leu368=)
|
rs758435546
|
0.00001
|
NM_003098.3(SNTA1):c.1151A>G (p.Glu384Gly)
|
rs1365956176
|
0.00001
|
NM_003098.3(SNTA1):c.1162G>A (p.Glu388Lys)
|
rs570991600
|
0.00001
|
NM_003098.3(SNTA1):c.1169C>T (p.Ala390Val)
|
rs121434500
|
0.00001
|
NM_003098.3(SNTA1):c.1238-3C>T
|
rs1366644642
|
0.00001
|
NM_003098.3(SNTA1):c.1245G>A (p.Thr415=)
|
rs780680201
|
0.00001
|
NM_003098.3(SNTA1):c.1255C>T (p.Arg419Cys)
|
rs375515058
|
0.00001
|
NM_003098.3(SNTA1):c.1279A>G (p.Ile427Val)
|
rs151158866
|
0.00001
|
NM_003098.3(SNTA1):c.1304C>T (p.Ala435Val)
|
rs1030135305
|
0.00001
|
NM_003098.3(SNTA1):c.1325G>A (p.Arg442Gln)
|
rs746800138
|
0.00001
|
NM_003098.3(SNTA1):c.1339C>T (p.Arg447Ter)
|
rs1187536758
|
0.00001
|
NM_003098.3(SNTA1):c.1378G>A (p.Gly460Ser)
|
rs368660364
|
0.00001
|
NM_003098.3(SNTA1):c.1386T>C (p.Ser462=)
|
rs1335638175
|
0.00001
|
NM_003098.3(SNTA1):c.1484C>T (p.Ser495Leu)
|
rs144006909
|
0.00001
|
NM_003098.3(SNTA1):c.1485G>A (p.Ser495=)
|
rs374100952
|
0.00001
|
NM_003098.3(SNTA1):c.1486G>C (p.Ala496Pro)
|
rs1463586615
|
0.00001
|
NM_003098.3(SNTA1):c.1504G>A (p.Gly502Arg)
|
rs768377696
|
0.00001
|
NM_003098.3(SNTA1):c.173A>G (p.Glu58Gly)
|
rs555231776
|
0.00001
|
NM_003098.3(SNTA1):c.198C>A (p.Gly66=)
|
rs1335292078
|
0.00001
|
NM_003098.3(SNTA1):c.200C>T (p.Ala67Val)
|
rs536755693
|
0.00001
|
NM_003098.3(SNTA1):c.23C>T (p.Pro8Leu)
|
rs1216164802
|
0.00001
|
NM_003098.3(SNTA1):c.316C>T (p.Arg106Trp)
|
rs552509775
|
0.00001
|
NM_003098.3(SNTA1):c.344C>A (p.Ser115Tyr)
|
rs1359697782
|
0.00001
|
NM_003098.3(SNTA1):c.354C>T (p.Phe118=)
|
rs1178809115
|
0.00001
|
NM_003098.3(SNTA1):c.375G>C (p.Gln125His)
|
rs201421292
|
0.00001
|
NM_003098.3(SNTA1):c.403A>C (p.Ile135Leu)
|
rs756587722
|
0.00001
|
NM_003098.3(SNTA1):c.419G>C (p.Gly140Ala)
|
rs768194552
|
0.00001
|
NM_003098.3(SNTA1):c.441C>T (p.Thr147=)
|
rs1421000101
|
0.00001
|
NM_003098.3(SNTA1):c.473C>T (p.Thr158Ile)
|
rs908403821
|
0.00001
|
NM_003098.3(SNTA1):c.497-5A>G
|
rs202178576
|
0.00001
|
NM_003098.3(SNTA1):c.514G>A (p.Val172Ile)
|
rs775580363
|
0.00001
|
NM_003098.3(SNTA1):c.526T>C (p.Phe176Leu)
|
rs781703999
|
0.00001
|
NM_003098.3(SNTA1):c.544G>A (p.Gly182Arg)
|
rs201405395
|
0.00001
|
NM_003098.3(SNTA1):c.630C>T (p.Ser210=)
|
rs747390007
|
0.00001
|
NM_003098.3(SNTA1):c.719C>T (p.Ser240Leu)
|
rs35168199
|
0.00001
|
NM_003098.3(SNTA1):c.759T>A (p.Asp253Glu)
|
rs759487225
|
0.00001
|
NM_003098.3(SNTA1):c.766A>T (p.Ser256Cys)
|
rs192115867
|
0.00001
|
NM_003098.3(SNTA1):c.773G>A (p.Arg258Lys)
|
rs776064801
|
0.00001
|
NM_003098.3(SNTA1):c.816G>A (p.Thr272=)
|
rs371028127
|
0.00001
|
NM_003098.3(SNTA1):c.837G>A (p.Leu279=)
|
rs746607636
|
0.00001
|
NM_003098.3(SNTA1):c.955A>G (p.Lys319Glu)
|
rs766990229
|
0.00001
|
NM_003098.3(SNTA1):c.991C>T (p.Arg331Cys)
|
rs769528459
|
0.00001
|
NM_003413.4(ZIC3):c.366G>A (p.Gln122=)
|
rs1043815068
|
0.00001
|
NM_003413.4(ZIC3):c.668A>G (p.Asn223Ser)
|
rs1034877221
|
0.00001
|
NM_003413.4(ZIC3):c.870G>A (p.Pro290=)
|
rs757814584
|
0.00001
|
NM_004387.4(NKX2-5):c.111G>A (p.Leu37=)
|
rs746594822
|
0.00001
|
NM_004387.4(NKX2-5):c.117G>A (p.Ala39=)
|
rs1282271902
|
0.00001
|
NM_004387.4(NKX2-5):c.147C>G (p.Ala49=)
|
rs1057523798
|
0.00001
|
NM_004387.4(NKX2-5):c.168C>T (p.Tyr56=)
|
rs756377692
|
0.00001
|
NM_004387.4(NKX2-5):c.169G>T (p.Ala57Ser)
|
rs549161381
|
0.00001
|
NM_004387.4(NKX2-5):c.173G>T (p.Gly58Val)
|
rs1012750146
|
0.00001
|
NM_004387.4(NKX2-5):c.223C>G (p.Arg75Gly)
|
rs1216673146
|
0.00001
|
NM_004387.4(NKX2-5):c.236C>G (p.Pro79Arg)
|
rs777921797
|
0.00001
|
NM_004387.4(NKX2-5):c.282A>G (p.Pro94=)
|
rs1468594356
|
0.00001
|
NM_004387.4(NKX2-5):c.284G>T (p.Arg95Leu)
|
rs763729448
|
0.00001
|
NM_004387.4(NKX2-5):c.295G>T (p.Asp99Tyr)
|
rs1761431105
|
0.00001
|
NM_004387.4(NKX2-5):c.300C>A (p.Pro100=)
|
rs767243751
|
0.00001
|
NM_004387.4(NKX2-5):c.309C>T (p.Ala103=)
|
rs759221178
|
0.00001
|
NM_004387.4(NKX2-5):c.344C>T (p.Ala115Val)
|
rs529610517
|
0.00001
|
NM_004387.4(NKX2-5):c.385A>G (p.Asn129Asp)
|
rs758000160
|
0.00001
|
NM_004387.4(NKX2-5):c.387C>T (p.Asn129=)
|
rs750029908
|
0.00001
|
NM_004387.4(NKX2-5):c.395G>C (p.Arg132Pro)
|
rs754394393
|
0.00001
|
NM_004387.4(NKX2-5):c.420G>A (p.Lys140=)
|
rs1761361713
|
0.00001
|
NM_004387.4(NKX2-5):c.444G>A (p.Ala148=)
|
rs776529245
|
0.00001
|
NM_004387.4(NKX2-5):c.448G>A (p.Val150Ile)
|
rs201582515
|
0.00001
|
NM_004387.4(NKX2-5):c.450C>T (p.Val150=)
|
rs376636481
|
0.00001
|
NM_004387.4(NKX2-5):c.466C>T (p.Arg156Cys)
|
rs1310163851
|
0.00001
|
NM_004387.4(NKX2-5):c.48C>T (p.Asp16=)
|
rs1380213330
|
0.00001
|
NM_004387.4(NKX2-5):c.521T>G (p.Val174Gly)
|
rs1761356979
|
0.00001
|
NM_004387.4(NKX2-5):c.553T>C (p.Trp185Arg)
|
rs1761355968
|
0.00001
|
NM_004387.4(NKX2-5):c.558C>T (p.Phe186=)
|
rs994615466
|
0.00001
|
NM_004387.4(NKX2-5):c.561G>A (p.Gln187=)
|
rs767559311
|
0.00001
|
NM_004387.4(NKX2-5):c.639G>C (p.Pro213=)
|
rs1190579821
|
0.00001
|
NM_004387.4(NKX2-5):c.645C>T (p.Ala215=)
|
rs755052461
|
0.00001
|
NM_004387.4(NKX2-5):c.655G>A (p.Ala219Thr)
|
rs760305842
|
0.00001
|
NM_004387.4(NKX2-5):c.656C>T (p.Ala219Val)
|
rs104893902
|
0.00001
|
NM_004387.4(NKX2-5):c.705G>C (p.Ala235=)
|
rs202071628
|
0.00001
|
NM_004387.4(NKX2-5):c.706C>T (p.Pro236Ser)
|
rs770192204
|
0.00001
|
NM_004387.4(NKX2-5):c.727G>A (p.Val243Met)
|
rs781370140
|
0.00001
|
NM_004387.4(NKX2-5):c.772G>A (p.Gly258Ser)
|
rs772889193
|
0.00001
|
NM_004387.4(NKX2-5):c.826G>A (p.Ala276Thr)
|
rs1425022333
|
0.00001
|
NM_004387.4(NKX2-5):c.828C>T (p.Ala276=)
|
rs762836048
|
0.00001
|
NM_004387.4(NKX2-5):c.842C>A (p.Ala281Glu)
|
rs1206339157
|
0.00001
|
NM_004387.4(NKX2-5):c.849G>A (p.Pro283=)
|
rs769114793
|
0.00001
|
NM_004387.4(NKX2-5):c.84T>A (p.Ala28=)
|
rs1403843686
|
0.00001
|
NM_004387.4(NKX2-5):c.869A>G (p.Asn290Ser)
|
rs936204422
|
0.00001
|
NM_004387.4(NKX2-5):c.89C>A (p.Ala30Asp)
|
rs1425683417
|
0.00001
|
NM_004387.4(NKX2-5):c.907G>T (p.Val303Phe)
|
rs772495396
|
0.00001
|
NM_004387.4(NKX2-5):c.91G>A (p.Gly31Arg)
|
rs1360215151
|
0.00001
|
NM_004387.4(NKX2-5):c.956A>G (p.His319Arg)
|
rs1196710127
|
0.00001
|
NM_004387.4(NKX2-5):c.957T>C (p.His319=)
|
rs1244640427
|
0.00001
|
NM_004387.4(NKX2-5):c.96G>C (p.Glu32Asp)
|
rs776310516
|
0.00001
|
NM_004821.3(HAND1):c.135G>T (p.Trp45Cys)
|
rs772706064
|
0.00001
|
NM_004821.3(HAND1):c.152A>T (p.Asp51Val)
|
rs1365842411
|
0.00001
|
NM_004821.3(HAND1):c.183G>A (p.Pro61=)
|
rs774965575
|
0.00001
|
NM_004821.3(HAND1):c.187C>T (p.Pro63Ser)
|
rs772843786
|
0.00001
|
NM_004821.3(HAND1):c.204C>T (p.Ala68=)
|
rs746848071
|
0.00001
|
NM_004821.3(HAND1):c.215A>G (p.Tyr72Cys)
|
rs764242373
|
0.00001
|
NM_004821.3(HAND1):c.237G>A (p.Gly79=)
|
rs1415491664
|
0.00001
|
NM_004821.3(HAND1):c.245C>T (p.Pro82Leu)
|
rs772538065
|
0.00001
|
NM_004821.3(HAND1):c.257A>T (p.Glu86Val)
|
rs1177737621
|
0.00001
|
NM_004821.3(HAND1):c.345G>T (p.Ala115=)
|
rs1043638166
|
0.00001
|
NM_004821.3(HAND1):c.357G>C (p.Glu119Asp)
|
rs775093878
|
0.00001
|
NM_004821.3(HAND1):c.370G>T (p.Val124Leu)
|
rs745686103
|
0.00001
|
NM_004821.3(HAND1):c.544-18C>G
|
rs933165391
|
0.00001
|
NM_004821.3(HAND1):c.551A>T (p.His184Leu)
|
rs1246794989
|
0.00001
|
NM_005159.5(ACTC1):c.1035C>T (p.Gly345=)
|
rs1430980455
|
0.00001
|
NM_005159.5(ACTC1):c.1044G>A (p.Leu348=)
|
rs1461497941
|
0.00001
|
NM_005159.5(ACTC1):c.1085A>C (p.Gln362Pro)
|
rs375435815
|
0.00001
|
NM_005159.5(ACTC1):c.108C>T (p.Ile36=)
|
rs1457769757
|
0.00001
|
NM_005159.5(ACTC1):c.1098G>A (p.Glu366=)
|
rs758173419
|
0.00001
|
NM_005159.5(ACTC1):c.1099G>A (p.Ala367Thr)
|
rs370256882
|
0.00001
|
NM_005159.5(ACTC1):c.1131C>T (p.Phe377=)
|
rs764683976
|
0.00001
|
NM_005159.5(ACTC1):c.117C>T (p.Arg39=)
|
rs751851323
|
0.00001
|
NM_005159.5(ACTC1):c.120G>A (p.Pro40=)
|
rs766934253
|
0.00001
|
NM_005159.5(ACTC1):c.129+19_129+20insT
|
rs386134228
|
0.00001
|
NM_005159.5(ACTC1):c.129G>A (p.Gln43=)
|
rs878854753
|
0.00001
|
NM_005159.5(ACTC1):c.12C>T (p.Asp4=)
|
rs768526036
|
0.00001
|
NM_005159.5(ACTC1):c.130-4A>T
|
rs772110994
|
0.00001
|
NM_005159.5(ACTC1):c.240C>T (p.Asn80=)
|
rs1178754602
|
0.00001
|
NM_005159.5(ACTC1):c.268C>T (p.His90Tyr)
|
rs121912676
|
0.00001
|
NM_005159.5(ACTC1):c.289C>T (p.Arg97Cys)
|
rs759495229
|
0.00001
|
NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys)
|
rs193922680
|
0.00001
|
NM_005159.5(ACTC1):c.311C>T (p.Pro104Leu)
|
rs1405829098
|
0.00001
|
NM_005159.5(ACTC1):c.318G>A (p.Leu106=)
|
rs1335305223
|
0.00001
|
NM_005159.5(ACTC1):c.352C>A (p.Arg118=)
|
rs1159252460
|
0.00001
|
NM_005159.5(ACTC1):c.369G>A (p.Gln123=)
|
rs768169477
|
0.00001
|
NM_005159.5(ACTC1):c.423G>A (p.Val141=)
|
rs922191208
|
0.00001
|
NM_005159.5(ACTC1):c.432G>T (p.Leu144=)
|
rs1595761302
|
0.00001
|
NM_005159.5(ACTC1):c.441T>C (p.Ser147=)
|
rs1199593688
|
0.00001
|
NM_005159.5(ACTC1):c.447T>C (p.Arg149=)
|
rs1315206069
|
0.00001
|
NM_005159.5(ACTC1):c.454+5G>C
|
rs756249146
|
0.00001
|
NM_005159.5(ACTC1):c.455-14A>G
|
rs902599585
|
0.00001
|
NM_005159.5(ACTC1):c.455-4G>A
|
rs746508669
|
0.00001
|
NM_005159.5(ACTC1):c.455-6G>A
|
rs1359050330
|
0.00001
|
NM_005159.5(ACTC1):c.455-9C>T
|
rs1891726942
|
0.00001
|
NM_005159.5(ACTC1):c.5G>A (p.Cys2Tyr)
|
rs1469206760
|
0.00001
|
NM_005159.5(ACTC1):c.609C>T (p.Val203=)
|
rs1055408313
|
0.00001
|
NM_005159.5(ACTC1):c.617-7T>C
|
rs750536667
|
0.00001
|
NM_005159.5(ACTC1):c.622C>T (p.Arg208Cys)
|
rs727505179
|
0.00001
|
NM_005159.5(ACTC1):c.633C>T (p.Val211=)
|
rs199947846
|
0.00001
|
NM_005159.5(ACTC1):c.663C>T (p.Val221=)
|
rs766868624
|
0.00001
|
NM_005159.5(ACTC1):c.747C>T (p.Val249=)
|
rs1470571495
|
0.00001
|
NM_005159.5(ACTC1):c.756T>C (p.Ile252=)
|
rs371940910
|
0.00001
|
NM_005159.5(ACTC1):c.792C>T (p.Phe264=)
|
rs769158928
|
0.00001
|
NM_005159.5(ACTC1):c.809-9C>T
|
rs752499457
|
0.00001
|
NM_005159.5(ACTC1):c.81C>T (p.Asp27=)
|
rs753552901
|
0.00001
|
NM_005159.5(ACTC1):c.886T>C (p.Tyr296His)
|
rs730880402
|
0.00001
|
NM_005159.5(ACTC1):c.93T>C (p.Ala31=)
|
rs1341945129
|
0.00001
|
NM_005159.5(ACTC1):c.942T>C (p.Arg314=)
|
rs778914066
|
0.00001
|
NM_005159.5(ACTC1):c.967G>A (p.Ala323Thr)
|
rs771011464
|
0.00001
|
NM_005184.4(CALM3):c.138A>G (p.Glu46=)
|
rs1454292329
|
0.00001
|
NM_005184.4(CALM3):c.178+19G>A
|
rs186405375
|
0.00001
|
NM_005184.4(CALM3):c.179-18C>T
|
rs761694804
|
0.00001
|
NM_005184.4(CALM3):c.24G>A (p.Glu8=)
|
rs1001080500
|
0.00001
|
NM_005184.4(CALM3):c.286-10C>G
|
rs375255516
|
0.00001
|
NM_005184.4(CALM3):c.286-19C>G
|
rs1478765429
|
0.00001
|
NM_005184.4(CALM3):c.3+13G>A
|
rs759824845
|
0.00001
|
NM_005184.4(CALM3):c.324C>T (p.His108=)
|
rs45587137
|
0.00001
|
NM_005184.4(CALM3):c.366G>A (p.Val122=)
|
rs1261825623
|
0.00001
|
NM_005184.4(CALM3):c.4-3C>T
|
rs756875833
|
0.00001
|
NM_005184.4(CALM3):c.402T>C (p.Asp134=)
|
rs755022859
|
0.00001
|
NM_005184.4(CALM3):c.447G>A (p.Lys149=)
|
rs746647108
|
0.00001
|
NM_005257.6(GATA6):c.1021G>A (p.Val341Met)
|
rs1270889195
|
0.00001
|
NM_005257.6(GATA6):c.1030C>T (p.Pro344Ser)
|
rs1408429022
|
0.00001
|
NM_005257.6(GATA6):c.1048C>G (p.Pro350Ala)
|
rs964471147
|
0.00001
|
NM_005257.6(GATA6):c.1100G>C (p.Gly367Ala)
|
rs1293318805
|
0.00001
|
NM_005257.6(GATA6):c.1103C>T (p.Ala368Val)
|
rs1457725461
|
0.00001
|
NM_005257.6(GATA6):c.110C>T (p.Ser37Phe)
|
rs776255080
|
0.00001
|
NM_005257.6(GATA6):c.1114G>A (p.Val372Met)
|
rs1243661585
|
0.00001
|
NM_005257.6(GATA6):c.112C>A (p.Pro38Thr)
|
rs769310811
|
0.00001
|
NM_005257.6(GATA6):c.1139T>C (p.Leu380Pro)
|
rs1446505680
|
0.00001
|
NM_005257.6(GATA6):c.1212C>T (p.Asp404=)
|
rs749866394
|
0.00001
|
NM_005257.6(GATA6):c.1263C>A (p.Asn421Lys)
|
rs375015752
|
0.00001
|
NM_005257.6(GATA6):c.1290G>T (p.Pro430=)
|
rs1030890046
|
0.00001
|
NM_005257.6(GATA6):c.1303C>A (p.Pro435Thr)
|
rs1182565719
|
0.00001
|
NM_005257.6(GATA6):c.1332T>C (p.Cys444=)
|
rs2033195222
|
0.00001
|
NM_005257.6(GATA6):c.141C>T (p.Ser47=)
|
rs754073585
|
0.00001
|
NM_005257.6(GATA6):c.1513T>C (p.Ser505Pro)
|
rs746906542
|
0.00001
|
NM_005257.6(GATA6):c.1516+10C>T
|
rs201544789
|
0.00001
|
NM_005257.6(GATA6):c.155G>T (p.Arg52Leu)
|
rs541150137
|
0.00001
|
NM_005257.6(GATA6):c.156G>A (p.Arg52=)
|
rs1228736787
|
0.00001
|
NM_005257.6(GATA6):c.1624G>A (p.Gly542Ser)
|
rs1568011554
|
0.00001
|
NM_005257.6(GATA6):c.1631C>T (p.Pro544Leu)
|
rs767156756
|
0.00001
|
NM_005257.6(GATA6):c.1725C>T (p.Ala575=)
|
rs200788504
|
0.00001
|
NM_005257.6(GATA6):c.1743G>A (p.Thr581=)
|
rs1027770450
|
0.00001
|
NM_005257.6(GATA6):c.1757C>T (p.Pro586Leu)
|
rs749567667
|
0.00001
|
NM_005257.6(GATA6):c.187C>T (p.Pro63Ser)
|
rs559705145
|
0.00001
|
NM_005257.6(GATA6):c.199A>T (p.Thr67Ser)
|
rs923229630
|
0.00001
|
NM_005257.6(GATA6):c.200C>G (p.Thr67Arg)
|
rs933199729
|
0.00001
|
NM_005257.6(GATA6):c.203A>T (p.Glu68Val)
|
rs200483324
|
0.00001
|
NM_005257.6(GATA6):c.208G>A (p.Ala70Thr)
|
rs779755261
|
0.00001
|
NM_005257.6(GATA6):c.261C>T (p.Pro87=)
|
rs1293405632
|
0.00001
|
NM_005257.6(GATA6):c.269C>T (p.Ala90Val)
|
rs1341980994
|
0.00001
|
NM_005257.6(GATA6):c.307G>C (p.Gly103Arg)
|
rs749200220
|
0.00001
|
NM_005257.6(GATA6):c.337C>T (p.Leu113=)
|
rs771752366
|
0.00001
|
NM_005257.6(GATA6):c.33G>A (p.Pro11=)
|
rs773163815
|
0.00001
|
NM_005257.6(GATA6):c.364G>T (p.Ala122Ser)
|
rs1245960637
|
0.00001
|
NM_005257.6(GATA6):c.383T>C (p.Leu128Pro)
|
rs1381339538
|
0.00001
|
NM_005257.6(GATA6):c.459T>C (p.Ala153=)
|
rs752220329
|
0.00001
|
NM_005257.6(GATA6):c.472G>A (p.Gly158Ser)
|
rs2033048695
|
0.00001
|
NM_005257.6(GATA6):c.48C>A (p.Ala16=)
|
rs764776127
|
0.00001
|
NM_005257.6(GATA6):c.507C>A (p.Phe169Leu)
|
rs980861173
|
0.00001
|
NM_005257.6(GATA6):c.508G>A (p.Val170Met)
|
rs1343278963
|
0.00001
|
NM_005257.6(GATA6):c.50C>G (p.Ala17Gly)
|
rs1030316600
|
0.00001
|
NM_005257.6(GATA6):c.525G>A (p.Ala175=)
|
rs759587190
|
0.00001
|
NM_005257.6(GATA6):c.538G>A (p.Ala180Thr)
|
rs897655941
|
0.00001
|
NM_005257.6(GATA6):c.595C>T (p.Pro199Ser)
|
rs1428539753
|
0.00001
|
NM_005257.6(GATA6):c.597C>T (p.Pro199=)
|
rs1172457864
|
0.00001
|
NM_005257.6(GATA6):c.605C>A (p.Pro202Gln)
|
rs1176964829
|
0.00001
|
NM_005257.6(GATA6):c.606G>A (p.Pro202=)
|
rs1407999679
|
0.00001
|
NM_005257.6(GATA6):c.61G>T (p.Ala21Ser)
|
rs752129361
|
0.00001
|
NM_005257.6(GATA6):c.621G>C (p.Gly207=)
|
rs1288470498
|
0.00001
|
NM_005257.6(GATA6):c.631G>A (p.Gly211Arg)
|
rs1375177355
|
0.00001
|
NM_005257.6(GATA6):c.709A>G (p.Ser237Gly)
|
rs1323110205
|
0.00001
|
NM_005257.6(GATA6):c.729C>T (p.Gly243=)
|
rs1323741166
|
0.00001
|
NM_005257.6(GATA6):c.777C>T (p.Val259=)
|
rs1402116310
|
0.00001
|
NM_005257.6(GATA6):c.784C>T (p.Arg262Cys)
|
rs1409189846
|
0.00001
|
NM_005257.6(GATA6):c.789C>T (p.Phe263=)
|
rs1254802999
|
0.00001
|
NM_005257.6(GATA6):c.807G>T (p.Pro269=)
|
rs1301479852
|
0.00001
|
NM_005257.6(GATA6):c.809C>T (p.Pro270Leu)
|
rs1488181197
|
0.00001
|
NM_005257.6(GATA6):c.87G>A (p.Ala29=)
|
rs1254633924
|
0.00001
|
NM_005257.6(GATA6):c.924C>T (p.Pro308=)
|
rs1431203656
|
0.00001
|
NM_005257.6(GATA6):c.954G>C (p.Pro318=)
|
rs1313279921
|
0.00001
|
NM_005257.6(GATA6):c.961G>C (p.Gly321Arg)
|
rs1291923956
|
0.00001
|
NM_005257.6(GATA6):c.966G>A (p.Thr322=)
|
rs2033060375
|
0.00001
|
NM_005257.6(GATA6):c.995A>G (p.His332Arg)
|
rs1223505085
|
0.00001
|
NM_005751.5(AKAP9):c.10179A>G (p.Thr3393=)
|
rs1437373369
|
0.00001
|
NM_005751.5(AKAP9):c.10196C>A (p.Thr3399Asn)
|
rs758623712
|
0.00001
|
NM_005751.5(AKAP9):c.10200G>A (p.Glu3400=)
|
rs796565514
|
0.00001
|
NM_005751.5(AKAP9):c.10315A>G (p.Ile3439Val)
|
rs1040204302
|
0.00001
|
NM_005751.5(AKAP9):c.10319T>C (p.Met3440Thr)
|
rs751924200
|
0.00001
|
NM_005751.5(AKAP9):c.10332G>T (p.Gln3444His)
|
rs981017281
|
0.00001
|
NM_005751.5(AKAP9):c.10335G>A (p.Lys3445=)
|
rs755614570
|
0.00001
|
NM_005751.5(AKAP9):c.10360C>T (p.Arg3454Ter)
|
rs1471739869
|
0.00001
|
NM_005751.5(AKAP9):c.10419C>T (p.Thr3473=)
|
rs776467620
|
0.00001
|
NM_005751.5(AKAP9):c.1044A>C (p.Leu348=)
|
rs747912745
|
0.00001
|
NM_005751.5(AKAP9):c.10481A>G (p.Asn3494Ser)
|
rs1240295587
|
0.00001
|
NM_005751.5(AKAP9):c.10485C>T (p.Tyr3495=)
|
rs764654898
|
0.00001
|
NM_005751.5(AKAP9):c.10523G>A (p.Cys3508Tyr)
|
rs750007670
|
0.00001
|
NM_005751.5(AKAP9):c.10591C>G (p.Gln3531Glu)
|
rs767137372
|
0.00001
|
NM_005751.5(AKAP9):c.10641C>A (p.Phe3547Leu)
|
rs528888059
|
0.00001
|
NM_005751.5(AKAP9):c.10643T>C (p.Ile3548Thr)
|
rs146186205
|
0.00001
|
NM_005751.5(AKAP9):c.10710A>G (p.Glu3570=)
|
rs767245893
|
0.00001
|
NM_005751.5(AKAP9):c.10769G>A (p.Arg3590Lys)
|
rs970740445
|
0.00001
|
NM_005751.5(AKAP9):c.10774A>C (p.Asn3592His)
|
rs751653287
|
0.00001
|
NM_005751.5(AKAP9):c.10818G>T (p.Lys3606Asn)
|
rs1052036778
|
0.00001
|
NM_005751.5(AKAP9):c.10871G>A (p.Arg3624Gln)
|
rs377561989
|
0.00001
|
NM_005751.5(AKAP9):c.10904G>A (p.Arg3635Lys)
|
rs1475038289
|
0.00001
|
NM_005751.5(AKAP9):c.11037A>G (p.Glu3679=)
|
rs746472680
|
0.00001
|
NM_005751.5(AKAP9):c.11111A>G (p.Lys3704Arg)
|
rs777319897
|
0.00001
|
NM_005751.5(AKAP9):c.11142T>A (p.Ala3714=)
|
rs1038760302
|
0.00001
|
NM_005751.5(AKAP9):c.11157G>A (p.Lys3719=)
|
rs1060504955
|
0.00001
|
NM_005751.5(AKAP9):c.11201A>T (p.Asp3734Val)
|
rs760860769
|
0.00001
|
NM_005751.5(AKAP9):c.11249C>T (p.Thr3750Met)
|
rs1431745958
|
0.00001
|
NM_005751.5(AKAP9):c.11261T>C (p.Val3754Ala)
|
rs1245271204
|
0.00001
|
NM_005751.5(AKAP9):c.11272C>T (p.Arg3758Cys)
|
rs779901993
|
0.00001
|
NM_005751.5(AKAP9):c.11301G>A (p.Ser3767=)
|
rs764711357
|
0.00001
|
NM_005751.5(AKAP9):c.11316C>T (p.Ser3772=)
|
rs185491437
|
0.00001
|
NM_005751.5(AKAP9):c.11317A>G (p.Ile3773Val)
|
rs746874048
|
0.00001
|
NM_005751.5(AKAP9):c.11323A>G (p.Ile3775Val)
|
rs910995516
|
0.00001
|
NM_005751.5(AKAP9):c.11340T>C (p.Phe3780=)
|
rs756185133
|
0.00001
|
NM_005751.5(AKAP9):c.11342T>C (p.Leu3781Ser)
|
rs779122050
|
0.00001
|
NM_005751.5(AKAP9):c.11347C>T (p.Arg3783Ter)
|
rs376277241
|
0.00001
|
NM_005751.5(AKAP9):c.11348G>A (p.Arg3783Gln)
|
rs143967328
|
0.00001
|
NM_005751.5(AKAP9):c.1134A>G (p.Leu378=)
|
rs541883996
|
0.00001
|
NM_005751.5(AKAP9):c.11378C>G (p.Ser3793Cys)
|
rs730880044
|
0.00001
|
NM_005751.5(AKAP9):c.11518A>G (p.Ile3840Val)
|
rs1175318913
|
0.00001
|
NM_005751.5(AKAP9):c.1159G>A (p.Glu387Lys)
|
rs1274395705
|
0.00001
|
NM_005751.5(AKAP9):c.11644C>T (p.Arg3882Trp)
|
rs370539725
|
0.00001
|
NM_005751.5(AKAP9):c.11687-3dup
|
rs1189746525
|
0.00001
|
NM_005751.5(AKAP9):c.1183A>G (p.Lys395Glu)
|
rs886062467
|
0.00001
|
NM_005751.5(AKAP9):c.1268A>T (p.Glu423Val)
|
rs777495335
|
0.00001
|
NM_005751.5(AKAP9):c.1457A>T (p.Asp486Val)
|
rs748637545
|
0.00001
|
NM_005751.5(AKAP9):c.1471A>C (p.Met491Leu)
|
rs770332643
|
0.00001
|
NM_005751.5(AKAP9):c.1583G>A (p.Arg528Lys)
|
rs1252942288
|
0.00001
|
NM_005751.5(AKAP9):c.1625A>G (p.Glu542Gly)
|
rs1283390674
|
0.00001
|
NM_005751.5(AKAP9):c.1642A>G (p.Arg548Gly)
|
rs147247719
|
0.00001
|
NM_005751.5(AKAP9):c.1643G>A (p.Arg548Lys)
|
rs1299207595
|
0.00001
|
NM_005751.5(AKAP9):c.1700C>T (p.Thr567Ile)
|
rs754575296
|
0.00001
|
NM_005751.5(AKAP9):c.177A>G (p.Gln59=)
|
rs368162150
|
0.00001
|
NM_005751.5(AKAP9):c.1859C>A (p.Ala620Asp)
|
rs774013935
|
0.00001
|
NM_005751.5(AKAP9):c.1984C>T (p.His662Tyr)
|
rs749315335
|
0.00001
|
NM_005751.5(AKAP9):c.2024G>A (p.Ser675Asn)
|
rs1316989997
|
0.00001
|
NM_005751.5(AKAP9):c.2165A>G (p.Asn722Ser)
|
rs756171219
|
0.00001
|
NM_005751.5(AKAP9):c.217G>T (p.Val73Leu)
|
rs887210886
|
0.00001
|
NM_005751.5(AKAP9):c.2181A>G (p.Glu727=)
|
rs1316869578
|
0.00001
|
NM_005751.5(AKAP9):c.2328G>A (p.Glu776=)
|
rs78221443
|
0.00001
|
NM_005751.5(AKAP9):c.2363A>C (p.Glu788Ala)
|
rs372076987
|
0.00001
|
NM_005751.5(AKAP9):c.2368A>G (p.Met790Val)
|
rs776190475
|
0.00001
|
NM_005751.5(AKAP9):c.2370G>A (p.Met790Ile)
|
rs1298504605
|
0.00001
|
NM_005751.5(AKAP9):c.2520T>C (p.Asn840=)
|
rs775917820
|
0.00001
|
NM_005751.5(AKAP9):c.2554T>C (p.Phe852Leu)
|
rs372844164
|
0.00001
|
NM_005751.5(AKAP9):c.2578A>G (p.Asn860Asp)
|
rs754943177
|
0.00001
|
NM_005751.5(AKAP9):c.257C>G (p.Thr86Ser)
|
rs768859701
|
0.00001
|
NM_005751.5(AKAP9):c.2618A>G (p.Lys873Arg)
|
rs746429266
|
0.00001
|
NM_005751.5(AKAP9):c.2625A>G (p.Lys875=)
|
rs775799706
|
0.00001
|
NM_005751.5(AKAP9):c.2773G>A (p.Ala925Thr)
|
rs1280293616
|
0.00001
|
NM_005751.5(AKAP9):c.2793T>A (p.Gly931=)
|
rs756987521
|
0.00001
|
NM_005751.5(AKAP9):c.2867C>T (p.Ser956Leu)
|
rs1169980644
|
0.00001
|
NM_005751.5(AKAP9):c.2911G>A (p.Gly971Ser)
|
rs761624453
|
0.00001
|
NM_005751.5(AKAP9):c.2997C>G (p.Ile999Met)
|
rs1425297084
|
0.00001
|
NM_005751.5(AKAP9):c.3055T>G (p.Leu1019Val)
|
rs769686940
|
0.00001
|
NM_005751.5(AKAP9):c.3107C>T (p.Ser1036Phe)
|
rs1799356611
|
0.00001
|
NM_005751.5(AKAP9):c.3329G>C (p.Arg1110Thr)
|
rs146811417
|
0.00001
|
NM_005751.5(AKAP9):c.3349C>T (p.Arg1117Cys)
|
rs1277410775
|
0.00001
|
NM_005751.5(AKAP9):c.3379C>T (p.His1127Tyr)
|
rs1562978382
|
0.00001
|
NM_005751.5(AKAP9):c.3424G>A (p.Ala1142Thr)
|
rs751790095
|
0.00001
|
NM_005751.5(AKAP9):c.3448C>T (p.Leu1150Phe)
|
rs750350575
|
0.00001
|
NM_005751.5(AKAP9):c.3493C>A (p.His1165Asn)
|
rs553209225
|
0.00001
|
NM_005751.5(AKAP9):c.34G>A (p.Ala12Thr)
|
rs1431417772
|
0.00001
|
NM_005751.5(AKAP9):c.352-12G>A
|
rs761240315
|
0.00001
|
NM_005751.5(AKAP9):c.3533-17A>G
|
rs899307339
|
0.00001
|
NM_005751.5(AKAP9):c.3544A>G (p.Lys1182Glu)
|
rs1801192661
|
0.00001
|
NM_005751.5(AKAP9):c.3645T>C (p.Thr1215=)
|
rs372167195
|
0.00001
|
NM_005751.5(AKAP9):c.3672A>G (p.Ala1224=)
|
rs892241767
|
0.00001
|
NM_005751.5(AKAP9):c.3708A>T (p.Glu1236Asp)
|
rs751002727
|
0.00001
|
NM_005751.5(AKAP9):c.3741T>C (p.Tyr1247=)
|
rs1411763455
|
0.00001
|
NM_005751.5(AKAP9):c.375G>A (p.Met125Ile)
|
rs1451972452
|
0.00001
|
NM_005751.5(AKAP9):c.3838-10T>C
|
rs1426775226
|
0.00001
|
NM_005751.5(AKAP9):c.3871G>C (p.Glu1291Gln)
|
rs768083906
|
0.00001
|
NM_005751.5(AKAP9):c.389C>G (p.Pro130Arg)
|
rs200518712
|
0.00001
|
NM_005751.5(AKAP9):c.3950T>C (p.Ile1317Thr)
|
rs199773513
|
0.00001
|
NM_005751.5(AKAP9):c.3955G>A (p.Val1319Ile)
|
rs1351358009
|
0.00001
|
NM_005751.5(AKAP9):c.4017A>G (p.Gln1339=)
|
rs1802527615
|
0.00001
|
NM_005751.5(AKAP9):c.405+16C>G
|
rs1240937712
|
0.00001
|
NM_005751.5(AKAP9):c.405+19C>T
|
rs1187490453
|
0.00001
|
NM_005751.5(AKAP9):c.406-4T>A
|
rs367997608
|
0.00001
|
NM_005751.5(AKAP9):c.4070C>T (p.Thr1357Ile)
|
rs1227164653
|
0.00001
|
NM_005751.5(AKAP9):c.4098C>T (p.His1366=)
|
rs907372253
|
0.00001
|
NM_005751.5(AKAP9):c.4099T>A (p.Cys1367Ser)
|
rs762203528
|
0.00001
|
NM_005751.5(AKAP9):c.4142C>T (p.Pro1381Leu)
|
rs148726562
|
0.00001
|
NM_005751.5(AKAP9):c.4149-12A>C
|
rs768017962
|
0.00001
|
NM_005751.5(AKAP9):c.4149-4T>C
|
rs565975524
|
0.00001
|
NM_005751.5(AKAP9):c.4156G>T (p.Val1386Phe)
|
rs762293635
|
0.00001
|
NM_005751.5(AKAP9):c.4184A>C (p.Asp1395Ala)
|
rs774408420
|
0.00001
|
NM_005751.5(AKAP9):c.4274A>C (p.Glu1425Ala)
|
rs747689685
|
0.00001
|
NM_005751.5(AKAP9):c.4355G>A (p.Ser1452Asn)
|
rs1805531517
|
0.00001
|
NM_005751.5(AKAP9):c.4362A>G (p.Ala1454=)
|
rs1047659808
|
0.00001
|
NM_005751.5(AKAP9):c.438T>C (p.Ser146=)
|
rs753770347
|
0.00001
|
NM_005751.5(AKAP9):c.4394C>A (p.Ser1465Tyr)
|
rs779325943
|
0.00001
|
NM_005751.5(AKAP9):c.4396G>A (p.Gly1466Arg)
|
rs376262014
|
0.00001
|
NM_005751.5(AKAP9):c.4401A>G (p.Gly1467=)
|
rs1215615118
|
0.00001
|
NM_005751.5(AKAP9):c.4414G>A (p.Ala1472Thr)
|
rs1016368660
|
0.00001
|
NM_005751.5(AKAP9):c.4431A>G (p.Ala1477=)
|
rs780559414
|
0.00001
|
NM_005751.5(AKAP9):c.4550T>C (p.Leu1517Pro)
|
rs763681864
|
0.00001
|
NM_005751.5(AKAP9):c.4552A>G (p.Ser1518Gly)
|
rs776312514
|
0.00001
|
NM_005751.5(AKAP9):c.460C>A (p.Pro154Thr)
|
rs746612786
|
0.00001
|
NM_005751.5(AKAP9):c.4610A>T (p.Asp1537Val)
|
rs1251741261
|
0.00001
|
NM_005751.5(AKAP9):c.4672A>G (p.Thr1558Ala)
|
rs746815931
|
0.00001
|
NM_005751.5(AKAP9):c.4692+14C>G
|
rs761520797
|
0.00001
|
NM_005751.5(AKAP9):c.4709C>T (p.Ser1570Leu)
|
rs121908566
|
0.00001
|
NM_005751.5(AKAP9):c.4764A>G (p.Glu1588=)
|
rs778957233
|
0.00001
|
NM_005751.5(AKAP9):c.4814C>T (p.Thr1605Met)
|
rs777627168
|
0.00001
|
NM_005751.5(AKAP9):c.4832C>T (p.Ala1611Val)
|
rs1430748591
|
0.00001
|
NM_005751.5(AKAP9):c.4837A>G (p.Met1613Val)
|
rs193922723
|
0.00001
|
NM_005751.5(AKAP9):c.4881A>G (p.Gln1627=)
|
rs765317913
|
0.00001
|
NM_005751.5(AKAP9):c.4908A>G (p.Gln1636=)
|
rs777713030
|
0.00001
|
NM_005751.5(AKAP9):c.4945G>A (p.Val1649Ile)
|
rs756966573
|
0.00001
|
NM_005751.5(AKAP9):c.4971A>G (p.Leu1657=)
|
rs1490213211
|
0.00001
|
NM_005751.5(AKAP9):c.4994A>T (p.Gln1665Leu)
|
rs763089587
|
0.00001
|
NM_005751.5(AKAP9):c.5049G>A (p.Thr1683=)
|
rs757137701
|
0.00001
|
NM_005751.5(AKAP9):c.5056C>G (p.Gln1686Glu)
|
rs764941338
|
0.00001
|
NM_005751.5(AKAP9):c.506A>G (p.His169Arg)
|
rs1562947323
|
0.00001
|
NM_005751.5(AKAP9):c.5080G>A (p.Glu1694Lys)
|
rs776780461
|
0.00001
|
NM_005751.5(AKAP9):c.509A>T (p.Glu170Val)
|
rs539375675
|
0.00001
|
NM_005751.5(AKAP9):c.5163-8C>T
|
rs940997249
|
0.00001
|
NM_005751.5(AKAP9):c.5183A>G (p.Asn1728Ser)
|
rs1400302163
|
0.00001
|
NM_005751.5(AKAP9):c.5227G>A (p.Ala1743Thr)
|
rs769653270
|
0.00001
|
NM_005751.5(AKAP9):c.5351A>G (p.His1784Arg)
|
rs1193122767
|
0.00001
|
NM_005751.5(AKAP9):c.5358A>G (p.Glu1786=)
|
rs371133254
|
0.00001
|
NM_005751.5(AKAP9):c.5449G>A (p.Glu1817Lys)
|
rs575158854
|
0.00001
|
NM_005751.5(AKAP9):c.5456C>G (p.Thr1819Arg)
|
rs745708169
|
0.00001
|
NM_005751.5(AKAP9):c.5467C>G (p.Gln1823Glu)
|
rs1376036983
|
0.00001
|
NM_005751.5(AKAP9):c.546G>T (p.Arg182Ser)
|
rs779393285
|
0.00001
|
NM_005751.5(AKAP9):c.54C>A (p.Ala18=)
|
rs770850802
|
0.00001
|
NM_005751.5(AKAP9):c.5505A>G (p.Ile1835Met)
|
rs1057521238
|
0.00001
|
NM_005751.5(AKAP9):c.5523A>G (p.Glu1841=)
|
rs761370402
|
0.00001
|
NM_005751.5(AKAP9):c.5613G>A (p.Ala1871=)
|
rs778297562
|
0.00001
|
NM_005751.5(AKAP9):c.5636T>C (p.Met1879Thr)
|
rs776979647
|
0.00001
|
NM_005751.5(AKAP9):c.5638C>T (p.Arg1880Cys)
|
rs761946454
|
0.00001
|
NM_005751.5(AKAP9):c.5722A>G (p.Arg1908Gly)
|
rs780599681
|
0.00001
|
NM_005751.5(AKAP9):c.5765-7A>G
|
rs751012743
|
0.00001
|
NM_005751.5(AKAP9):c.5766C>T (p.Gly1922=)
|
rs781051056
|
0.00001
|
NM_005751.5(AKAP9):c.577-18C>T
|
rs1329104112
|
0.00001
|
NM_005751.5(AKAP9):c.5771T>C (p.Ile1924Thr)
|
rs1217996637
|
0.00001
|
NM_005751.5(AKAP9):c.5779T>C (p.Tyr1927His)
|
rs756486044
|
0.00001
|
NM_005751.5(AKAP9):c.5825C>A (p.Thr1942Asn)
|
rs768512576
|
0.00001
|
NM_005751.5(AKAP9):c.5840G>A (p.Arg1947His)
|
rs762609050
|
0.00001
|
NM_005751.5(AKAP9):c.5870A>G (p.Asn1957Ser)
|
rs767966419
|
0.00001
|
NM_005751.5(AKAP9):c.5933G>T (p.Arg1978Ile)
|
rs1274983523
|
0.00001
|
NM_005751.5(AKAP9):c.5977+8T>C
|
rs764652601
|
0.00001
|
NM_005751.5(AKAP9):c.6004A>G (p.Met2002Val)
|
rs1463067477
|
0.00001
|
NM_005751.5(AKAP9):c.6022G>A (p.Val2008Ile)
|
rs951438275
|
0.00001
|
NM_005751.5(AKAP9):c.6027A>G (p.Gln2009=)
|
rs556260953
|
0.00001
|
NM_005751.5(AKAP9):c.6065A>G (p.Gln2022Arg)
|
rs1376477395
|
0.00001
|
NM_005751.5(AKAP9):c.6113T>C (p.Ile2038Thr)
|
rs776217591
|
0.00001
|
NM_005751.5(AKAP9):c.6114A>G (p.Ile2038Met)
|
rs1463117870
|
0.00001
|
NM_005751.5(AKAP9):c.6125A>G (p.Gln2042Arg)
|
rs762427337
|
0.00001
|
NM_005751.5(AKAP9):c.6165C>T (p.Asn2055=)
|
rs766673963
|
0.00001
|
NM_005751.5(AKAP9):c.6170C>T (p.Ala2057Val)
|
rs975290833
|
0.00001
|
NM_005751.5(AKAP9):c.61C>T (p.Arg21Ter)
|
rs1060503553
|
0.00001
|
NM_005751.5(AKAP9):c.6200A>T (p.Lys2067Ile)
|
rs1253028052
|
0.00001
|
NM_005751.5(AKAP9):c.6210+20A>G
|
rs1810624974
|
0.00001
|
NM_005751.5(AKAP9):c.6237G>A (p.Glu2079=)
|
rs537731606
|
0.00001
|
NM_005751.5(AKAP9):c.6259A>G (p.Ile2087Val)
|
rs925619682
|
0.00001
|
NM_005751.5(AKAP9):c.6295C>T (p.Arg2099Ter)
|
rs747710944
|
0.00001
|
NM_005751.5(AKAP9):c.6343G>T (p.Ala2115Ser)
|
rs761921630
|
0.00001
|
NM_005751.5(AKAP9):c.6386T>G (p.Leu2129Trp)
|
rs759474634
|
0.00001
|
NM_005751.5(AKAP9):c.6439G>C (p.Glu2147Gln)
|
rs373725997
|
0.00001
|
NM_005751.5(AKAP9):c.6477G>A (p.Ala2159=)
|
rs780419888
|
0.00001
|
NM_005751.5(AKAP9):c.6507+6G>T
|
rs140872685
|
0.00001
|
NM_005751.5(AKAP9):c.6536T>C (p.Val2179Ala)
|
rs1060503580
|
0.00001
|
NM_005751.5(AKAP9):c.6612+8G>T
|
rs755377393
|
0.00001
|
NM_005751.5(AKAP9):c.6613-10G>A
|
rs1304799923
|
0.00001
|
NM_005751.5(AKAP9):c.6669T>C (p.Asn2223=)
|
rs551316515
|
0.00001
|
NM_005751.5(AKAP9):c.6672A>G (p.Glu2224=)
|
rs868365021
|
0.00001
|
NM_005751.5(AKAP9):c.6728G>A (p.Arg2243His)
|
rs926540370
|
0.00001
|
NM_005751.5(AKAP9):c.6756A>G (p.Lys2252=)
|
rs768123631
|
0.00001
|
NM_005751.5(AKAP9):c.6895G>C (p.Glu2299Gln)
|
rs1198428381
|
0.00001
|
NM_005751.5(AKAP9):c.6915G>A (p.Gln2305=)
|
rs776992805
|
0.00001
|
NM_005751.5(AKAP9):c.6961A>G (p.Asn2321Asp)
|
rs1290288696
|
0.00001
|
NM_005751.5(AKAP9):c.6996A>G (p.Glu2332=)
|
rs1315064294
|
0.00001
|
NM_005751.5(AKAP9):c.7034G>C (p.Arg2345Thr)
|
rs1563101732
|
0.00001
|
NM_005751.5(AKAP9):c.7054C>T (p.Leu2352Phe)
|
rs767504200
|
0.00001
|
NM_005751.5(AKAP9):c.7122T>C (p.Ala2374=)
|
rs771287562
|
0.00001
|
NM_005751.5(AKAP9):c.7213G>A (p.Ala2405Thr)
|
rs61746591
|
0.00001
|
NM_005751.5(AKAP9):c.7263T>G (p.Phe2421Leu)
|
rs772230351
|
0.00001
|
NM_005751.5(AKAP9):c.7356C>T (p.Asn2452=)
|
rs747269042
|
0.00001
|
NM_005751.5(AKAP9):c.738G>A (p.Gln246=)
|
rs1460983721
|
0.00001
|
NM_005751.5(AKAP9):c.7469G>A (p.Gly2490Asp)
|
rs760800507
|
0.00001
|
NM_005751.5(AKAP9):c.7486A>T (p.Asn2496Tyr)
|
rs886038911
|
0.00001
|
NM_005751.5(AKAP9):c.7573A>G (p.Met2525Val)
|
rs1220477751
|
0.00001
|
NM_005751.5(AKAP9):c.7575G>A (p.Met2525Ile)
|
rs149357648
|
0.00001
|
NM_005751.5(AKAP9):c.7592T>C (p.Phe2531Ser)
|
rs768443350
|
0.00001
|
NM_005751.5(AKAP9):c.7636A>G (p.Ile2546Val)
|
rs762351088
|
0.00001
|
NM_005751.5(AKAP9):c.7670G>C (p.Ser2557Thr)
|
rs754006562
|
0.00001
|
NM_005751.5(AKAP9):c.7683T>C (p.Leu2561=)
|
rs746961943
|
0.00001
|
NM_005751.5(AKAP9):c.7721A>G (p.Asn2574Ser)
|
rs748899639
|
0.00001
|
NM_005751.5(AKAP9):c.7741C>T (p.Pro2581Ser)
|
rs372955225
|
0.00001
|
NM_005751.5(AKAP9):c.7783G>T (p.Asp2595Tyr)
|
rs754949903
|
0.00001
|
NM_005751.5(AKAP9):c.7788G>A (p.Glu2596=)
|
rs777561134
|
0.00001
|
NM_005751.5(AKAP9):c.7915A>G (p.Lys2639Glu)
|
rs1426533488
|
0.00001
|
NM_005751.5(AKAP9):c.7933G>C (p.Glu2645Gln)
|
rs1407994937
|
0.00001
|
NM_005751.5(AKAP9):c.793C>G (p.Gln265Glu)
|
rs1798307146
|
0.00001
|
NM_005751.5(AKAP9):c.7997C>T (p.Pro2666Leu)
|
rs756905236
|
0.00001
|
NM_005751.5(AKAP9):c.8013T>C (p.Val2671=)
|
rs771712081
|
0.00001
|
NM_005751.5(AKAP9):c.8019+5G>C
|
rs779652992
|
0.00001
|
NM_005751.5(AKAP9):c.8020-12G>A
|
rs779767584
|
0.00001
|
NM_005751.5(AKAP9):c.8020-5T>C
|
rs375175124
|
0.00001
|
NM_005751.5(AKAP9):c.8052A>G (p.Glu2684=)
|
rs878854810
|
0.00001
|
NM_005751.5(AKAP9):c.8161-6T>A
|
rs554984079
|
0.00001
|
NM_005751.5(AKAP9):c.8174A>G (p.Asn2725Ser)
|
rs778235746
|
0.00001
|
NM_005751.5(AKAP9):c.8212G>C (p.Asp2738His)
|
rs773428761
|
0.00001
|
NM_005751.5(AKAP9):c.8404G>T (p.Ala2802Ser)
|
rs1469597087
|
0.00001
|
NM_005751.5(AKAP9):c.8431G>A (p.Glu2811Lys)
|
rs868546210
|
0.00001
|
NM_005751.5(AKAP9):c.8490G>A (p.Lys2830=)
|
rs772173332
|
0.00001
|
NM_005751.5(AKAP9):c.8585A>G (p.Gln2862Arg)
|
rs752618658
|
0.00001
|
NM_005751.5(AKAP9):c.8610C>A (p.Thr2870=)
|
rs148603859
|
0.00001
|
NM_005751.5(AKAP9):c.8648G>T (p.Gly2883Val)
|
rs1339555983
|
0.00001
|
NM_005751.5(AKAP9):c.8688G>A (p.Gln2896=)
|
rs751625334
|
0.00001
|
NM_005751.5(AKAP9):c.8710+18T>C
|
rs1814202128
|
0.00001
|
NM_005751.5(AKAP9):c.872A>T (p.Lys291Ile)
|
rs1279150801
|
0.00001
|
NM_005751.5(AKAP9):c.8798A>C (p.Glu2933Ala)
|
rs974881166
|
0.00001
|
NM_005751.5(AKAP9):c.8833-15G>A
|
rs181600318
|
0.00001
|
NM_005751.5(AKAP9):c.8843G>A (p.Arg2948Lys)
|
rs1814380468
|
0.00001
|
NM_005751.5(AKAP9):c.8892C>G (p.Pro2964=)
|
rs1172853201
|
0.00001
|
NM_005751.5(AKAP9):c.9004C>G (p.Gln3002Glu)
|
rs778864019
|
0.00001
|
NM_005751.5(AKAP9):c.9012A>G (p.Gln3004=)
|
rs1401144711
|
0.00001
|
NM_005751.5(AKAP9):c.9053G>A (p.Ser3018Asn)
|
rs1372778218
|
0.00001
|
NM_005751.5(AKAP9):c.9108A>G (p.Glu3036=)
|
rs1199129544
|
0.00001
|
NM_005751.5(AKAP9):c.9136C>T (p.Arg3046Trp)
|
rs780099038
|
0.00001
|
NM_005751.5(AKAP9):c.9137G>A (p.Arg3046Gln)
|
rs142831346
|
0.00001
|
NM_005751.5(AKAP9):c.9165A>G (p.Thr3055=)
|
rs775921193
|
0.00001
|
NM_005751.5(AKAP9):c.9173T>C (p.Val3058Ala)
|
rs1214206783
|
0.00001
|
NM_005751.5(AKAP9):c.9202A>G (p.Ile3068Val)
|
rs538801309
|
0.00001
|
NM_005751.5(AKAP9):c.9214-7G>A
|
rs772360609
|
0.00001
|
NM_005751.5(AKAP9):c.931-8T>C
|
rs1359812106
|
0.00001
|
NM_005751.5(AKAP9):c.9329G>A (p.Arg3110Lys)
|
rs769098388
|
0.00001
|
NM_005751.5(AKAP9):c.9349C>A (p.Pro3117Thr)
|
rs769119204
|
0.00001
|
NM_005751.5(AKAP9):c.9358+17G>C
|
rs76156185
|
0.00001
|
NM_005751.5(AKAP9):c.9468T>G (p.Ser3156=)
|
rs759583976
|
0.00001
|
NM_005751.5(AKAP9):c.9517T>C (p.Leu3173=)
|
rs756495468
|
0.00001
|
NM_005751.5(AKAP9):c.9678A>G (p.Lys3226=)
|
rs766928167
|
0.00001
|
NM_005751.5(AKAP9):c.9711G>T (p.Arg3237=)
|
rs747049411
|
0.00001
|
NM_005751.5(AKAP9):c.9793C>G (p.Gln3265Glu)
|
rs758717247
|
0.00001
|
NM_005751.5(AKAP9):c.9814G>A (p.Glu3272Lys)
|
rs771303714
|
0.00001
|
NM_005751.5(AKAP9):c.9851A>G (p.Tyr3284Cys)
|
rs780111217
|
0.00001
|
NM_005751.5(AKAP9):c.9857C>T (p.Ala3286Val)
|
rs891249707
|
0.00001
|
NM_005751.5(AKAP9):c.9881G>A (p.Arg3294Gln)
|
rs752685614
|
0.00001
|
NM_006888.6(CALM1):c.183T>C (p.Asn61=)
|
rs751759267
|
0.00001
|
NM_006888.6(CALM1):c.201C>T (p.Pro67=)
|
rs762047997
|
0.00001
|
NM_006888.6(CALM1):c.273A>G (p.Arg91=)
|
rs1211887414
|
0.00001
|
NM_006888.6(CALM1):c.4-9T>A
|
rs1213908678
|
0.00001
|
NM_006888.6(CALM1):c.417T>C (p.Tyr139=)
|
rs377521523
|
0.00001
|
NM_006888.6(CALM1):c.421+8_421+9del
|
rs767443947
|
0.00001
|
NM_006888.6(CALM1):c.422-16dup
|
rs776212211
|
0.00001
|
NM_006888.6(CALM1):c.422-20T>C
|
rs1232803707
|
0.00001
|
NM_006888.6(CALM1):c.426C>T (p.Phe142=)
|
rs199744595
|
0.00001
|
NM_015335.5(MED13L):c.1091G>A (p.Arg364Lys)
|
rs993003177
|
0.00001
|
NM_015335.5(MED13L):c.1175+5G>A
|
rs567368642
|
0.00001
|
NM_015335.5(MED13L):c.1309G>A (p.Gly437Arg)
|
rs1478066317
|
0.00001
|
NM_015335.5(MED13L):c.1385C>T (p.Pro462Leu)
|
rs772715909
|
0.00001
|
NM_015335.5(MED13L):c.1525G>A (p.Gly509Arg)
|
rs1427629915
|
0.00001
|
NM_015335.5(MED13L):c.1654A>G (p.Ile552Val)
|
rs371805787
|
0.00001
|
NM_015335.5(MED13L):c.1859G>A (p.Gly620Glu)
|
rs780566155
|
0.00001
|
NM_015335.5(MED13L):c.1924G>C (p.Asp642His)
|
rs375037374
|
0.00001
|
NM_015335.5(MED13L):c.2019A>T (p.Leu673Phe)
|
rs752891084
|
0.00001
|
NM_015335.5(MED13L):c.2075C>G (p.Pro692Arg)
|
rs781324695
|
0.00001
|
NM_015335.5(MED13L):c.2117G>A (p.Gly706Glu)
|
rs200257416
|
0.00001
|
NM_015335.5(MED13L):c.2211G>A (p.Thr737=)
|
rs747879843
|
0.00001
|
NM_015335.5(MED13L):c.2350C>T (p.Arg784Trp)
|
rs757359386
|
0.00001
|
NM_015335.5(MED13L):c.2468G>A (p.Gly823Glu)
|
rs1879015895
|
0.00001
|
NM_015335.5(MED13L):c.2488C>T (p.Arg830Cys)
|
rs375719087
|
0.00001
|
NM_015335.5(MED13L):c.2570-11C>G
|
rs765381458
|
0.00001
|
NM_015335.5(MED13L):c.2791-3C>T
|
rs768223325
|
0.00001
|
NM_015335.5(MED13L):c.2812G>A (p.Val938Ile)
|
rs750422287
|
0.00001
|
NM_015335.5(MED13L):c.2871G>A (p.Pro957=)
|
rs771187948
|
0.00001
|
NM_015335.5(MED13L):c.3000C>T (p.Asn1000=)
|
rs775221277
|
0.00001
|
NM_015335.5(MED13L):c.3355G>A (p.Val1119Met)
|
rs574079603
|
0.00001
|
NM_015335.5(MED13L):c.3606G>A (p.Met1202Ile)
|
rs752751372
|
0.00001
|
NM_015335.5(MED13L):c.360G>A (p.Thr120=)
|
rs534984622
|
0.00001
|
NM_015335.5(MED13L):c.3818C>T (p.Thr1273Met)
|
rs775807063
|
0.00001
|
NM_015335.5(MED13L):c.3834G>A (p.Ala1278=)
|
rs145466664
|
0.00001
|
NM_015335.5(MED13L):c.4265T>C (p.Val1422Ala)
|
rs780657499
|
0.00001
|
NM_015335.5(MED13L):c.4275A>G (p.Pro1425=)
|
rs112942800
|
0.00001
|
NM_015335.5(MED13L):c.4294G>A (p.Glu1432Lys)
|
rs758950766
|
0.00001
|
NM_015335.5(MED13L):c.4368C>T (p.Ile1456=)
|
rs1592915963
|
0.00001
|
NM_015335.5(MED13L):c.4386C>T (p.Asp1462=)
|
rs760971347
|
0.00001
|
NM_015335.5(MED13L):c.4471G>A (p.Glu1491Lys)
|
rs757111256
|
0.00001
|
NM_015335.5(MED13L):c.4508C>T (p.Ala1503Val)
|
rs775785751
|
0.00001
|
NM_015335.5(MED13L):c.451G>A (p.Glu151Lys)
|
rs773315749
|
0.00001
|
NM_015335.5(MED13L):c.4607C>T (p.Ala1536Val)
|
rs527644823
|
0.00001
|
NM_015335.5(MED13L):c.473A>G (p.Asn158Ser)
|
rs781607336
|
0.00001
|
NM_015335.5(MED13L):c.4839G>A (p.Gly1613=)
|
rs754275970
|
0.00001
|
NM_015335.5(MED13L):c.4859G>A (p.Gly1620Asp)
|
rs775899433
|
0.00001
|
NM_015335.5(MED13L):c.4880A>G (p.Gln1627Arg)
|
rs752932375
|
0.00001
|
NM_015335.5(MED13L):c.4907C>T (p.Thr1636Ile)
|
rs140287114
|
0.00001
|
NM_015335.5(MED13L):c.4956-10C>G
|
rs1060504701
|
0.00001
|
NM_015335.5(MED13L):c.4956-5T>A
|
rs771118133
|
0.00001
|
NM_015335.5(MED13L):c.4988C>T (p.Thr1663Met)
|
rs142102185
|
0.00001
|
NM_015335.5(MED13L):c.5052G>A (p.Pro1684=)
|
rs753488932
|
0.00001
|
NM_015335.5(MED13L):c.5376A>G (p.Pro1792=)
|
rs779527731
|
0.00001
|
NM_015335.5(MED13L):c.5409C>T (p.Ala1803=)
|
rs756949902
|
0.00001
|
NM_015335.5(MED13L):c.546G>A (p.Glu182=)
|
rs781132536
|
0.00001
|
NM_015335.5(MED13L):c.5615G>A (p.Arg1872His)
|
rs28940310
|
0.00001
|
NM_015335.5(MED13L):c.57C>A (p.Ser19=)
|
rs1060504702
|
0.00001
|
NM_015335.5(MED13L):c.6318T>C (p.Ala2106=)
|
rs1258835287
|
0.00001
|
NM_015335.5(MED13L):c.6347C>T (p.Ser2116Leu)
|
rs774432060
|
0.00001
|
NM_015335.5(MED13L):c.731C>T (p.Pro244Leu)
|
rs775015157
|
0.00001
|
NM_015335.5(MED13L):c.805G>A (p.Val269Ile)
|
rs1879944991
|
0.00001
|
NM_015335.5(MED13L):c.861C>A (p.Ile287=)
|
rs61756230
|
0.00001
|
NM_015335.5(MED13L):c.879G>A (p.Pro293=)
|
rs140586744
|
0.00001
|
NM_018055.5(NODAL):c.211C>A (p.Gln71Lys)
|
rs748403461
|
0.00001
|
NM_018055.5(NODAL):c.473C>T (p.Pro158Leu)
|
rs772585502
|
0.00001
|
NM_018055.5(NODAL):c.550C>T (p.Pro184Ser)
|
rs752979542
|
0.00001
|
NM_018055.5(NODAL):c.661C>T (p.Arg221Trp)
|
rs144444359
|
0.00001
|
NM_018055.5(NODAL):c.817G>A (p.Ala273Thr)
|
rs770958126
|
0.00001
|
NM_018055.5(NODAL):c.869C>T (p.Pro290Leu)
|
rs757713122
|
0.00001
|
NM_018055.5(NODAL):c.891+1G>A
|
rs878855044
|
0.00001
|
NM_018055.5(NODAL):c.959C>T (p.Pro320Leu)
|
rs147251818
|
0.00001
|
NM_021005.4(NR2F2):c.1206C>T (p.Ser402=)
|
rs757077299
|
0.00001
|
NM_021005.4(NR2F2):c.789C>T (p.Pro263=)
|
rs1174849712
|
0.00001
|
NM_021005.4(NR2F2):c.882C>T (p.Ile294=)
|
rs1163679972
|
0.00001
|
NM_021005.4(NR2F2):c.918C>T (p.His306=)
|
rs751816358
|
0.00001
|
NM_021005.4(NR2F2):c.971-11C>T
|
rs1208596248
|
0.00001
|
NM_022114.4(PRDM16):c.1000G>A (p.Gly334Ser)
|
rs1382162421
|
0.00001
|
NM_022114.4(PRDM16):c.1006C>T (p.Arg336Cys)
|
rs748880850
|
0.00001
|
NM_022114.4(PRDM16):c.1012G>A (p.Glu338Lys)
|
rs1238631051
|
0.00001
|
NM_022114.4(PRDM16):c.1032+12G>A
|
rs751952895
|
0.00001
|
NM_022114.4(PRDM16):c.1032+9C>T
|
rs752780796
|
0.00001
|
NM_022114.4(PRDM16):c.1033-14A>G
|
rs778504357
|
0.00001
|
NM_022114.4(PRDM16):c.1062G>A (p.Arg354=)
|
rs749348281
|
0.00001
|
NM_022114.4(PRDM16):c.1070G>A (p.Arg357His)
|
rs1182753304
|
0.00001
|
NM_022114.4(PRDM16):c.1072T>A (p.Ser358Thr)
|
rs1451316777
|
0.00001
|
NM_022114.4(PRDM16):c.107A>C (p.Asp36Ala)
|
rs746503102
|
0.00001
|
NM_022114.4(PRDM16):c.109G>A (p.Glu37Lys)
|
rs369539275
|
0.00001
|
NM_022114.4(PRDM16):c.1131G>A (p.Thr377=)
|
rs769778096
|
0.00001
|
NM_022114.4(PRDM16):c.1158T>C (p.His386=)
|
rs1260995619
|
0.00001
|
NM_022114.4(PRDM16):c.1187-8T>C
|
rs1183088688
|
0.00001
|
NM_022114.4(PRDM16):c.1286G>A (p.Gly429Asp)
|
rs749740251
|
0.00001
|
NM_022114.4(PRDM16):c.1325G>A (p.Arg442Gln)
|
rs760272889
|
0.00001
|
NM_022114.4(PRDM16):c.132G>A (p.Ser44=)
|
rs373546344
|
0.00001
|
NM_022114.4(PRDM16):c.1355C>T (p.Thr452Met)
|
rs781154573
|
0.00001
|
NM_022114.4(PRDM16):c.1461G>A (p.Glu487=)
|
rs374384603
|
0.00001
|
NM_022114.4(PRDM16):c.1481A>C (p.His494Pro)
|
rs754016475
|
0.00001
|
NM_022114.4(PRDM16):c.1484C>T (p.Pro495Leu)
|
rs779190595
|
0.00001
|
NM_022114.4(PRDM16):c.1508C>T (p.Ala503Val)
|
rs1012036612
|
0.00001
|
NM_022114.4(PRDM16):c.1549A>G (p.Ile517Val)
|
rs759740047
|
0.00001
|
NM_022114.4(PRDM16):c.1564T>C (p.Leu522=)
|
rs376746589
|
0.00001
|
NM_022114.4(PRDM16):c.1573C>T (p.Arg525Trp)
|
rs369644938
|
0.00001
|
NM_022114.4(PRDM16):c.1633G>A (p.Ala545Thr)
|
rs763268700
|
0.00001
|
NM_022114.4(PRDM16):c.1651C>T (p.Leu551=)
|
rs757695488
|
0.00001
|
NM_022114.4(PRDM16):c.1707G>A (p.Thr569=)
|
rs774578880
|
0.00001
|
NM_022114.4(PRDM16):c.1725C>T (p.Pro575=)
|
rs753442334
|
0.00001
|
NM_022114.4(PRDM16):c.172G>A (p.Glu58Lys)
|
rs972134115
|
0.00001
|
NM_022114.4(PRDM16):c.1780A>G (p.Arg594Gly)
|
rs371292826
|
0.00001
|
NM_022114.4(PRDM16):c.1781G>C (p.Arg594Thr)
|
rs773722995
|
0.00001
|
NM_022114.4(PRDM16):c.1788C>T (p.Ser596=)
|
rs766972389
|
0.00001
|
NM_022114.4(PRDM16):c.1789G>A (p.Asp597Asn)
|
rs753255714
|
0.00001
|
NM_022114.4(PRDM16):c.1807G>A (p.Asp603Asn)
|
rs199984813
|
0.00001
|
NM_022114.4(PRDM16):c.1818C>T (p.Asp606=)
|
rs372578303
|
0.00001
|
NM_022114.4(PRDM16):c.1868C>T (p.Ser623Leu)
|
rs758659393
|
0.00001
|
NM_022114.4(PRDM16):c.1884C>T (p.Asp628=)
|
rs762491643
|
0.00001
|
NM_022114.4(PRDM16):c.1907A>G (p.Asp636Gly)
|
rs752799586
|
0.00001
|
NM_022114.4(PRDM16):c.1929C>T (p.Ala643=)
|
rs781608108
|
0.00001
|
NM_022114.4(PRDM16):c.1972G>C (p.Ala658Pro)
|
rs760438677
|
0.00001
|
NM_022114.4(PRDM16):c.1976C>T (p.Pro659Leu)
|
rs533776622
|
0.00001
|
NM_022114.4(PRDM16):c.1977G>A (p.Pro659=)
|
rs759550479
|
0.00001
|
NM_022114.4(PRDM16):c.1981A>G (p.Ser661Gly)
|
rs1453953544
|
0.00001
|
NM_022114.4(PRDM16):c.1995G>A (p.Val665=)
|
rs370328226
|
0.00001
|
NM_022114.4(PRDM16):c.2038G>A (p.Glu680Lys)
|
rs528536647
|
0.00001
|
NM_022114.4(PRDM16):c.2057C>T (p.Thr686Met)
|
rs868332674
|
0.00001
|
NM_022114.4(PRDM16):c.2058G>A (p.Thr686=)
|
rs368426649
|
0.00001
|
NM_022114.4(PRDM16):c.2066C>G (p.Ala689Gly)
|
rs577251077
|
0.00001
|
NM_022114.4(PRDM16):c.2067C>T (p.Ala689=)
|
rs371813954
|
0.00001
|
NM_022114.4(PRDM16):c.2068G>A (p.Gly690Arg)
|
rs1408714731
|
0.00001
|
NM_022114.4(PRDM16):c.2106G>A (p.Lys702=)
|
rs776564044
|
0.00001
|
NM_022114.4(PRDM16):c.2169G>A (p.Ser723=)
|
rs775363690
|
0.00001
|
NM_022114.4(PRDM16):c.2188C>T (p.Leu730=)
|
rs998587011
|
0.00001
|
NM_022114.4(PRDM16):c.2200C>T (p.Pro734Ser)
|
rs753162594
|
0.00001
|
NM_022114.4(PRDM16):c.2264C>A (p.Pro755Gln)
|
rs969598014
|
0.00001
|
NM_022114.4(PRDM16):c.229G>C (p.Asp77His)
|
rs374449916
|
0.00001
|
NM_022114.4(PRDM16):c.2316C>T (p.Pro772=)
|
rs1643709868
|
0.00001
|
NM_022114.4(PRDM16):c.2358G>C (p.Leu786=)
|
rs539709297
|
0.00001
|
NM_022114.4(PRDM16):c.2362A>T (p.Met788Leu)
|
rs768208960
|
0.00001
|
NM_022114.4(PRDM16):c.2376C>T (p.Pro792=)
|
rs765834618
|
0.00001
|
NM_022114.4(PRDM16):c.2385C>T (p.Pro795=)
|
rs752553894
|
0.00001
|
NM_022114.4(PRDM16):c.2428C>T (p.Arg810Trp)
|
rs776055411
|
0.00001
|
NM_022114.4(PRDM16):c.2434C>T (p.Arg812Cys)
|
rs876657960
|
0.00001
|
NM_022114.4(PRDM16):c.2436T>A (p.Arg812=)
|
rs1287494453
|
0.00001
|
NM_022114.4(PRDM16):c.2447A>G (p.Asn816Ser)
|
rs397514743
|
0.00001
|
NM_022114.4(PRDM16):c.2457G>A (p.Gly819=)
|
rs779330948
|
0.00001
|
NM_022114.4(PRDM16):c.2459G>A (p.Arg820Gln)
|
rs772528427
|
0.00001
|
NM_022114.4(PRDM16):c.2491C>T (p.Arg831Cys)
|
rs1392945429
|
0.00001
|
NM_022114.4(PRDM16):c.2509G>A (p.Glu837Lys)
|
rs1343697961
|
0.00001
|
NM_022114.4(PRDM16):c.2524G>C (p.Val842Leu)
|
rs527355817
|
0.00001
|
NM_022114.4(PRDM16):c.2539A>T (p.Met847Leu)
|
rs369624816
|
0.00001
|
NM_022114.4(PRDM16):c.2556G>A (p.Pro852=)
|
rs570631594
|
0.00001
|
NM_022114.4(PRDM16):c.2565C>T (p.Tyr855=)
|
rs769253322
|
0.00001
|
NM_022114.4(PRDM16):c.2568C>T (p.Ala856=)
|
rs1028577681
|
0.00001
|
NM_022114.4(PRDM16):c.2587A>G (p.Met863Val)
|
rs1489156449
|
0.00001
|
NM_022114.4(PRDM16):c.2662C>T (p.Arg888Trp)
|
rs1208513057
|
0.00001
|
NM_022114.4(PRDM16):c.267C>T (p.Ser89=)
|
rs1375652103
|
0.00001
|
NM_022114.4(PRDM16):c.2702T>C (p.Ile901Thr)
|
rs1482371535
|
0.00001
|
NM_022114.4(PRDM16):c.2771C>G (p.Pro924Arg)
|
rs776849795
|
0.00001
|
NM_022114.4(PRDM16):c.2772C>G (p.Pro924=)
|
rs759889503
|
0.00001
|
NM_022114.4(PRDM16):c.278G>A (p.Gly93Glu)
|
rs1447130590
|
0.00001
|
NM_022114.4(PRDM16):c.2820C>T (p.Ser940=)
|
rs764764989
|
0.00001
|
NM_022114.4(PRDM16):c.2861+9C>G
|
rs1311984735
|
0.00001
|
NM_022114.4(PRDM16):c.2940-16C>T
|
rs374845861
|
0.00001
|
NM_022114.4(PRDM16):c.2976G>A (p.Ser992=)
|
rs558657594
|
0.00001
|
NM_022114.4(PRDM16):c.2991C>T (p.His997=)
|
rs1230593041
|
0.00001
|
NM_022114.4(PRDM16):c.3044G>A (p.Arg1015His)
|
rs758654133
|
0.00001
|
NM_022114.4(PRDM16):c.3090C>T (p.His1030=)
|
rs768283494
|
0.00001
|
NM_022114.4(PRDM16):c.3091G>A (p.Glu1031Lys)
|
rs373883664
|
0.00001
|
NM_022114.4(PRDM16):c.30A>G (p.Leu10=)
|
rs776122259
|
0.00001
|
NM_022114.4(PRDM16):c.3110-6C>T
|
rs1300909185
|
0.00001
|
NM_022114.4(PRDM16):c.3123C>T (p.Pro1041=)
|
rs111922473
|
0.00001
|
NM_022114.4(PRDM16):c.3129C>T (p.Val1043=)
|
rs199507891
|
0.00001
|
NM_022114.4(PRDM16):c.3131T>C (p.Leu1044Pro)
|
rs767844702
|
0.00001
|
NM_022114.4(PRDM16):c.3176C>T (p.Ser1059Leu)
|
rs774463414
|
0.00001
|
NM_022114.4(PRDM16):c.3189A>G (p.Ala1063=)
|
rs1557670065
|
0.00001
|
NM_022114.4(PRDM16):c.3194T>C (p.Leu1065Ser)
|
rs1410844593
|
0.00001
|
NM_022114.4(PRDM16):c.3210C>T (p.Asp1070=)
|
rs1408885025
|
0.00001
|
NM_022114.4(PRDM16):c.3248G>C (p.Ser1083Thr)
|
rs773415200
|
0.00001
|
NM_022114.4(PRDM16):c.3268A>G (p.Thr1090Ala)
|
rs776903233
|
0.00001
|
NM_022114.4(PRDM16):c.3281A>G (p.Lys1094Arg)
|
rs947863770
|
0.00001
|
NM_022114.4(PRDM16):c.3286G>A (p.Ala1096Thr)
|
rs374562445
|
0.00001
|
NM_022114.4(PRDM16):c.3288G>A (p.Ala1096=)
|
rs754951901
|
0.00001
|
NM_022114.4(PRDM16):c.3290A>G (p.Asp1097Gly)
|
rs777907752
|
0.00001
|
NM_022114.4(PRDM16):c.3300C>T (p.Ile1100=)
|
rs757372504
|
0.00001
|
NM_022114.4(PRDM16):c.3320G>A (p.Cys1107Tyr)
|
rs1220618976
|
0.00001
|
NM_022114.4(PRDM16):c.3427G>A (p.Val1143Met)
|
rs200515585
|
0.00001
|
NM_022114.4(PRDM16):c.3431C>A (p.Ser1144Tyr)
|
rs755257030
|
0.00001
|
NM_022114.4(PRDM16):c.3444G>A (p.Glu1148=)
|
rs370445519
|
0.00001
|
NM_022114.4(PRDM16):c.3454G>A (p.Ala1152Thr)
|
rs776229208
|
0.00001
|
NM_022114.4(PRDM16):c.3459C>T (p.Tyr1153=)
|
rs994086253
|
0.00001
|
NM_022114.4(PRDM16):c.3460G>A (p.Glu1154Lys)
|
rs999685090
|
0.00001
|
NM_022114.4(PRDM16):c.3461A>C (p.Glu1154Ala)
|
rs527844629
|
0.00001
|
NM_022114.4(PRDM16):c.3522-15C>T
|
rs768576120
|
0.00001
|
NM_022114.4(PRDM16):c.3538G>A (p.Glu1180Lys)
|
rs763267613
|
0.00001
|
NM_022114.4(PRDM16):c.3563C>T (p.Pro1188Leu)
|
rs572604983
|
0.00001
|
NM_022114.4(PRDM16):c.3564G>A (p.Pro1188=)
|
rs1439452609
|
0.00001
|
NM_022114.4(PRDM16):c.3569C>T (p.Pro1190Leu)
|
rs755588843
|
0.00001
|
NM_022114.4(PRDM16):c.3579G>A (p.Gly1193=)
|
rs1172414043
|
0.00001
|
NM_022114.4(PRDM16):c.3580A>G (p.Lys1194Glu)
|
rs748925025
|
0.00001
|
NM_022114.4(PRDM16):c.3592C>A (p.Leu1198Ile)
|
rs778899500
|
0.00001
|
NM_022114.4(PRDM16):c.3596G>A (p.Arg1199His)
|
rs772196588
|
0.00001
|
NM_022114.4(PRDM16):c.359C>T (p.Ala120Val)
|
rs770130107
|
0.00001
|
NM_022114.4(PRDM16):c.3658G>A (p.Ala1220Thr)
|
rs764414998
|
0.00001
|
NM_022114.4(PRDM16):c.3667C>T (p.His1223Tyr)
|
rs1485523092
|
0.00001
|
NM_022114.4(PRDM16):c.366G>A (p.Lys122=)
|
rs763380749
|
0.00001
|
NM_022114.4(PRDM16):c.3697-12C>T
|
rs758164093
|
0.00001
|
NM_022114.4(PRDM16):c.3697-6C>T
|
rs746937579
|
0.00001
|
NM_022114.4(PRDM16):c.3724G>A (p.Glu1242Lys)
|
rs772460000
|
0.00001
|
NM_022114.4(PRDM16):c.3729C>T (p.Asp1243=)
|
rs1198367549
|
0.00001
|
NM_022114.4(PRDM16):c.3750C>T (p.Ser1250=)
|
rs546815156
|
0.00001
|
NM_022114.4(PRDM16):c.3792G>A (p.Thr1264=)
|
rs566695262
|
0.00001
|
NM_022114.4(PRDM16):c.3795G>A (p.Ser1265=)
|
rs777228666
|
0.00001
|
NM_022114.4(PRDM16):c.379G>A (p.Gly127Arg)
|
rs552204871
|
0.00001
|
NM_022114.4(PRDM16):c.387+11G>A
|
rs748135291
|
0.00001
|
NM_022114.4(PRDM16):c.402C>T (p.Asp134=)
|
rs779682238
|
0.00001
|
NM_022114.4(PRDM16):c.410T>C (p.Val137Ala)
|
rs1161500379
|
0.00001
|
NM_022114.4(PRDM16):c.412T>C (p.Ser138Pro)
|
rs1346765382
|
0.00001
|
NM_022114.4(PRDM16):c.472G>A (p.Val158Met)
|
rs948941830
|
0.00001
|
NM_022114.4(PRDM16):c.518G>A (p.Arg173His)
|
rs768419281
|
0.00001
|
NM_022114.4(PRDM16):c.628G>A (p.Val210Met)
|
rs760972158
|
0.00001
|
NM_022114.4(PRDM16):c.658G>T (p.Val220Leu)
|
rs746597198
|
0.00001
|
NM_022114.4(PRDM16):c.666C>T (p.Pro222=)
|
rs876657565
|
0.00001
|
NM_022114.4(PRDM16):c.737G>A (p.Arg246Gln)
|
rs754853503
|
0.00001
|
NM_022114.4(PRDM16):c.755C>T (p.Thr252Met)
|
rs770148632
|
0.00001
|
NM_022114.4(PRDM16):c.823G>A (p.Gly275Ser)
|
rs752636134
|
0.00001
|
NM_022114.4(PRDM16):c.831C>T (p.Ser277=)
|
rs1278770328
|
0.00001
|
NM_022114.4(PRDM16):c.844G>A (p.Glu282Lys)
|
rs187351394
|
0.00001
|
NM_022114.4(PRDM16):c.866T>C (p.Met289Thr)
|
rs765044618
|
0.00001
|
NM_022114.4(PRDM16):c.882C>T (p.Tyr294=)
|
rs985187014
|
0.00001
|
NM_022114.4(PRDM16):c.885-13G>A
|
rs908696915
|
0.00001
|
NM_022114.4(PRDM16):c.911C>T (p.Thr304Met)
|
rs377547823
|
0.00001
|
NM_022114.4(PRDM16):c.919C>T (p.Arg307Cys)
|
rs774291082
|
0.00001
|
NM_022114.4(PRDM16):c.936C>T (p.Asp312=)
|
rs752864531
|
0.00001
|
NM_022114.4(PRDM16):c.954C>T (p.Phe318=)
|
rs758648409
|
0.00001
|
NM_022114.4(PRDM16):c.993C>T (p.His331=)
|
rs374504712
|
0.00001
|
NM_022114.4(PRDM16):c.999C>T (p.Ser333=)
|
rs779735049
|
0.00001
|
NM_033337.3(CAV3):c.114+11C>T
|
rs779911803
|
0.00001
|
NM_033337.3(CAV3):c.117G>C (p.Val39=)
|
rs753959620
|
0.00001
|
NM_033337.3(CAV3):c.143C>G (p.Pro48Arg)
|
rs1060502317
|
0.00001
|
NM_033337.3(CAV3):c.165C>T (p.Asp55=)
|
rs759446749
|
0.00001
|
NM_033337.3(CAV3):c.165del (p.Asp55fs)
|
rs780411707
|
0.00001
|
NM_033337.3(CAV3):c.169G>A (p.Val57Met)
|
rs116840795
|
0.00001
|
NM_033337.3(CAV3):c.221G>A (p.Arg74His)
|
rs201893621
|
0.00001
|
NM_033337.3(CAV3):c.236T>G (p.Leu79Arg)
|
rs121909282
|
0.00001
|
NM_033337.3(CAV3):c.247C>T (p.Pro83Ser)
|
rs137881434
|
0.00001
|
NM_033337.3(CAV3):c.260T>C (p.Leu87Pro)
|
rs28936685
|
0.00001
|
NM_033337.3(CAV3):c.273G>A (p.Leu91=)
|
rs368976665
|
0.00001
|
NM_033337.3(CAV3):c.310G>A (p.Val104Met)
|
rs944503745
|
0.00001
|
NM_033337.3(CAV3):c.310G>C (p.Val104Leu)
|
rs944503745
|
0.00001
|
NM_033337.3(CAV3):c.318C>T (p.Cys106=)
|
rs1478420018
|
0.00001
|
NM_033337.3(CAV3):c.345G>C (p.Gln115His)
|
rs758165061
|
0.00001
|
NM_033337.3(CAV3):c.370T>C (p.Cys124Arg)
|
rs1428912621
|
0.00001
|
NM_033337.3(CAV3):c.377G>A (p.Arg126His)
|
rs116840777
|
0.00001
|
NM_033337.3(CAV3):c.416T>C (p.Val139Ala)
|
rs756611208
|
0.00001
|
NM_033337.3(CAV3):c.431A>G (p.Lys144Arg)
|
rs1060502316
|
0.00001
|
NM_033337.3(CAV3):c.435G>T (p.Val145=)
|
rs758111937
|
0.00001
|
NM_033337.3(CAV3):c.56G>A (p.Cys19Tyr)
|
rs963028152
|
0.00001
|
NM_033337.3(CAV3):c.60G>A (p.Lys20=)
|
rs972788554
|
0.00001
|
NM_033337.3(CAV3):c.65T>C (p.Ile22Thr)
|
rs763666060
|
0.00001
|
NM_033337.3(CAV3):c.6_7del (p.Met2fs)
|
rs1060502318
|
0.00001
|
NM_033337.3(CAV3):c.80G>A (p.Arg27Gln)
|
rs116840778
|
0.00001
|
NM_033337.3(CAV3):c.88A>C (p.Lys30Gln)
|
rs730880425
|
0.00001
|
NM_033337.3(CAV3):c.89A>G (p.Lys30Arg)
|
rs753431407
|
0.00001
|
NM_145020.5(CFAP53):c.1059A>G (p.Glu353=)
|
rs762156930
|
0.00001
|
NM_145020.5(CFAP53):c.253G>A (p.Asp85Asn)
|
rs764782179
|
0.00001
|
NM_145020.5(CFAP53):c.740C>T (p.Ala247Val)
|
rs765953509
|
0.00001
|
NM_145020.5(CFAP53):c.772C>T (p.Leu258Phe)
|
rs756279535
|
0.00001
|
NM_145054.5(CFAP52):c.1430T>C (p.Val477Ala)
|
rs77840450
|
0.00001
|
NM_145054.5(CFAP52):c.1492A>G (p.Met498Val)
|
rs765338836
|
0.00001
|
NM_145054.5(CFAP52):c.969A>T (p.Lys323Asn)
|
rs767468275
|
0.00001
|
NM_172201.2(KCNE2):c.144dup (p.Val49fs)
|
rs751276927
|
0.00001
|
NM_172201.2(KCNE2):c.160A>G (p.Met54Val)
|
rs371724328
|
0.00001
|
NM_172201.2(KCNE2):c.171T>G (p.Ile57Met)
|
rs146053586
|
0.00001
|
NM_172201.2(KCNE2):c.242A>G (p.Asn81Ser)
|
rs1434304789
|
0.00001
|
NM_172201.2(KCNE2):c.246C>T (p.Asp82=)
|
rs774193019
|
0.00001
|
NM_172201.2(KCNE2):c.261C>T (p.Tyr87=)
|
rs587781005
|
0.00001
|
NM_172201.2(KCNE2):c.293G>A (p.Ser98Asn)
|
rs1333677285
|
0.00001
|
NM_172201.2(KCNE2):c.2T>C (p.Met1Thr)
|
rs867658122
|
0.00001
|
NM_172201.2(KCNE2):c.318G>A (p.Ser106=)
|
rs781438592
|
0.00001
|
NM_172201.2(KCNE2):c.351T>G (p.Ala117=)
|
rs1568814278
|
0.00001
|
NM_172201.2(KCNE2):c.357C>A (p.Phe119Leu)
|
rs139202426
|
0.00001
|
NM_172201.2(KCNE2):c.367C>T (p.Pro123Ser)
|
rs746625998
|
0.00001
|
NM_172201.2(KCNE2):c.372A>G (p.Ter124Trp)
|
rs1305783893
|
0.00001
|
NM_172201.2(KCNE2):c.60T>C (p.Ile20=)
|
rs1213881768
|
0.00001
|
NM_174934.4(SCN4B):c.103G>A (p.Val35Met)
|
rs1322792651
|
0.00001
|
NM_174934.4(SCN4B):c.115A>G (p.Thr39Ala)
|
rs756210130
|
0.00001
|
NM_174934.4(SCN4B):c.198C>G (p.Phe66Leu)
|
rs746892195
|
0.00001
|
NM_174934.4(SCN4B):c.21A>G (p.Gly7=)
|
rs1332884912
|
0.00001
|
NM_174934.4(SCN4B):c.234+14G>A
|
rs1300967093
|
0.00001
|
NM_174934.4(SCN4B):c.235-13C>T
|
rs757744201
|
0.00001
|
NM_174934.4(SCN4B):c.259G>A (p.Glu87Lys)
|
rs762777113
|
0.00001
|
NM_174934.4(SCN4B):c.281C>T (p.Thr94Met)
|
rs768926261
|
0.00001
|
NM_174934.4(SCN4B):c.298C>T (p.Arg100Cys)
|
rs149497652
|
0.00001
|
NM_174934.4(SCN4B):c.299G>A (p.Arg100His)
|
rs779514077
|
0.00001
|
NM_174934.4(SCN4B):c.33G>C (p.Pro11=)
|
rs755861941
|
0.00001
|
NM_174934.4(SCN4B):c.353T>C (p.Leu118Pro)
|
rs755758222
|
0.00001
|
NM_174934.4(SCN4B):c.40T>G (p.Trp14Gly)
|
rs946169910
|
0.00001
|
NM_174934.4(SCN4B):c.513C>T (p.Gly171=)
|
rs368141412
|
0.00001
|
NM_174934.4(SCN4B):c.544C>G (p.Leu182Val)
|
rs771565684
|
0.00001
|
NM_174934.4(SCN4B):c.546G>A (p.Leu182=)
|
rs1306208725
|
0.00001
|
NM_174934.4(SCN4B):c.579G>A (p.Lys193=)
|
rs202087057
|
0.00001
|
NM_174934.4(SCN4B):c.599A>G (p.Glu200Gly)
|
rs750707860
|
0.00001
|
NM_174934.4(SCN4B):c.606C>T (p.Leu202=)
|
rs1047192753
|
0.00001
|
NM_174934.4(SCN4B):c.61+1G>A
|
rs377558816
|
0.00001
|
NM_174934.4(SCN4B):c.62-16G>A
|
rs772762943
|
0.00001
|
NM_174934.4(SCN4B):c.62-1G>A
|
rs950065814
|
0.00001
|
NM_174934.4(SCN4B):c.624T>C (p.Asn208=)
|
rs770446500
|
0.00001
|
NM_174934.4(SCN4B):c.630C>T (p.Asn210=)
|
rs1418864816
|
0.00001
|
NM_174934.4(SCN4B):c.649G>T (p.Gly217Cys)
|
rs371609756
|
0.00001
|
NM_174934.4(SCN4B):c.78C>T (p.Pro26=)
|
rs1326784999
|
0.00001
|
NC_000001.10:g.(?_201327136)_(201347828_?)dup
|
|
|
NC_000001.10:g.(?_201328338)_(201342382_?)dup
|
|
|
NC_000001.10:g.(?_201334309)_(201342392_?)del
|
|
|
NC_000001.10:g.(?_2957600)_(3350385_?)dup
|
|
|
NC_000001.10:g.(?_2985804)_(2985880_?)dup
|
|
|
NC_000001.10:g.(?_2985824)_(3350375_?)dup
|
|
|
NC_000001.10:g.(?_3102669)_(3103058_?)dup
|
|
|
NC_000001.10:g.(?_3102669)_(3160721_?)dup
|
|
|
NC_000001.10:g.(?_3102669)_(3301870_?)dup
|
|
|
NC_000001.10:g.(?_3102669)_(3350375_?)dup
|
|
|
NC_000001.10:g.(?_3102679)_(3160711_?)dup
|
|
|
NC_000001.10:g.(?_3160631)_(3160721_?)dup
|
|
|
NC_000001.10:g.(?_3301696)_(3301870_?)del
|
|
|
NC_000001.10:g.(?_3301696)_(3350375_?)dup
|
|
|
NC_000001.10:g.(?_3313045)_(3313167_?)del
|
|
|
NC_000001.10:g.(?_955543)_(3350385_?)del
|
|
|
NC_000001.10:g.(?_955553)_(3350375_?)del
|
|
|
NC_000001.10:g.(?_989123)_(3160711_?)del
|
|
|
NC_000001.11:g.(?_3041036)_(3244147_?)dup
|
|
|
NC_000001.11:g.(?_3069240)_(3433831_?)del
|
|
|
NC_000001.11:g.(?_3186115)_(3186484_?)dup
|
|
|
NC_000001.11:g.(?_3186115)_(3244147_?)dup
|
|
|
NC_000001.11:g.(?_3385132)_(3433831_?)del
|
|
|
NC_000001.11:g.(?_3396481)_(3404896_?)del
|
|
|
NC_000002.11:g.(?_47387915)_(47389821_?)dup
|
|
|
NC_000002.11:g.(?_47387915)_(47397923_?)dup
|
|
|
NC_000002.11:g.(?_47387915)_(47403582_?)dup
|
|
|
NC_000002.11:g.(?_47388842)_(47403582_?)dup
|
|
|
NC_000003.11:g.(?_37034542)_(38835501_?)dup
|
|
|
NC_000003.11:g.(?_8775553)_(8787563_?)dup
|
|
|
NC_000003.11:g.(?_8775553)_(9730776_?)dup
|
|
|
NC_000003.11:g.(?_8775563)_(9986075_?)dup
|
|
|
NC_000003.12:g.(?_37452365)_(38950372_?)dup
|
|
|
NC_000003.12:g.(?_8733867)_(8745877_?)del
|
|
|
NC_000004.11:g.(?_114290660)_(114302637_?)dup
|
|
|
NC_000004.12:g.(?_113049719)_(113049822_?)dup
|
|
|
NC_000004.12:g.(?_113174406)_(113199119_?)del
|
|
|
NC_000005.10:g.(?_173232273)_(173245300_?)del
|
|
|
NC_000005.10:g.(?_173232549)_(173245300_?)del
|
|
|
NC_000005.9:g.(?_153855366)_(153857568_?)del
|
|
|
NC_000005.9:g.(?_153855366)_(153857568_?)dup
|
|
|
NC_000005.9:g.(?_172089144)_(172774583_?)del
|
|
|
NC_000005.9:g.(?_172657631)_(172661899_?)del
|
|
|
NC_000005.9:g.(?_172659552)_(172672303_?)dup
|
|
|
NC_000005.9:g.(?_172659748)_(172666091_?)del
|
|
|
NC_000007.13:g.(?_150066801)_(150759750_?)del
|
|
|
NC_000007.13:g.(?_150642433)_(150675021_?)dup
|
|
|
NC_000007.13:g.(?_150642433)_(151573725_?)del
|
|
|
NC_000007.13:g.(?_150642443)_(150645641_?)del
|
|
|
NC_000007.13:g.(?_150642443)_(151385353_?)del
|
|
|
NC_000007.13:g.(?_150642443)_(151385353_?)dup
|
|
|
NC_000007.13:g.(?_150642447)_(150656830_?)del
|
|
|
NC_000007.13:g.(?_150642453)_(150649961_?)del
|
|
|
NC_000007.13:g.(?_150642453)_(150675001_?)del
|
|
|
NC_000007.13:g.(?_150642453)_(150675001_?)dup
|
|
|
NC_000007.13:g.(?_150642453)_(152373165_?)dup
|
|
|
NC_000007.13:g.(?_150644396)_(150649961_?)dup
|
|
|
NC_000007.13:g.(?_150644406)_(150644976_?)del
|
|
|
NC_000007.13:g.(?_150653066)_(150655041_?)del
|
|
|
NC_000007.13:g.(?_150654359)_(150657201_?)del
|
|
|
NC_000007.13:g.(?_150654369)_(150656834_?)del
|
|
|
NC_000007.13:g.(?_91570394)_(92085896_?)dup
|
|
|
NC_000007.13:g.(?_91603005)_(91609667_?)del
|
|
|
NC_000007.13:g.(?_91621452)_(91625134_?)del
|
|
|
NC_000007.13:g.(?_91621452)_(91646436_?)dup
|
|
|
NC_000007.13:g.(?_91651532)_(91691820_?)del
|
|
|
NC_000007.13:g.(?_91731888)_(91732160_?)del
|
|
|
NC_000007.13:g.(?_91737798)_(91739483_?)del
|
|
|
NC_000007.14:g.(?_150944956)_(150959736_?)del
|
|
|
NC_000007.14:g.(?_150944956)_(150978314_?)del
|
|
|
NC_000007.14:g.(?_150946867)_(150947888_?)del
|
|
|
NC_000007.14:g.(?_150955988)_(150958464_?)del
|
|
|
NC_000007.14:g.(?_150957281)_(150977923_?)del
|
|
|
NC_000007.14:g.(?_150959552)_(150959756_?)del
|
|
|
NC_000007.14:g.(?_150959562)_(150959746_?)del
|
|
|
NC_000007.14:g.(?_150974691)_(150977933_?)del
|
|
|
NC_000007.14:g.(?_91994611)_(91995810_?)del
|
|
|
NC_000007.14:g.91973711_91973719del
|
rs1381647167
|
|
NC_000008.10:g.(?_11560787)_(11616004_?)dup
|
|
|
NC_000008.10:g.(?_11565822)_(11566457_?)del
|
|
|
NC_000008.10:g.(?_11565822)_(11566457_?)dup
|
|
|
NC_000008.10:g.(?_11606408)_(11615984_?)del
|
|
|
NC_000008.10:g.(?_21900440)_(23564111_?)dup
|
|
|
NC_000008.11:g.(?_11703278)_(11758495_?)del
|
|
|
NC_000008.11:g.(?_11703278)_(11759996_?)del
|
|
|
NC_000008.11:g.(?_11703278)_(11759996_?)dup
|
|
|
NC_000008.11:g.(?_11708303)_(11758594_?)dup
|
|
|
NC_000010.10:g.(?_72179670)_(72360658_?)dup
|
|
|
NC_000010.10:g.(?_72183370)_(72201347_?)del
|
|
|
NC_000011.10:g.(?_2527908)_(2528038_?)del
|
|
|
NC_000011.10:g.(?_2527918)_(2848935_?)del
|
|
|
NC_000011.10:g.(?_2570608)_(2573006_?)del
|
|
|
NC_000011.10:g.(?_2570628)_(2572986_?)del
|
|
|
NC_000011.10:g.(?_2583415)_(2588874_?)del
|
|
|
NC_000011.10:g.(?_2583425)_(2583555_?)del
|
|
|
NC_000011.10:g.(?_2583425)_(2588864_?)del
|
|
|
NC_000011.10:g.(?_2583435)_(2583545_?)del
|
|
|
NC_000011.10:g.(?_2585212)_(2587692_?)del
|
|
|
NC_000011.10:g.(?_2587560)_(2587702_?)del
|
|
|
NC_000011.10:g.(?_2775954)_(2777038_?)del
|
|
|
NC_000011.10:g.(?_2775960)_(2777032_?)del
|
|
|
NC_000011.9:g.(?_118007722)_(119170511_?)del
|
|
|
NC_000011.9:g.(?_118014528)_(118015964_?)del
|
|
|
NC_000011.9:g.(?_128781169)_(128786626_?)del
|
|
|
NC_000011.9:g.(?_128781169)_(128786626_?)dup
|
|
|
NC_000011.9:g.(?_2466329)_(2466734_?)del
|
|
|
NC_000011.9:g.(?_2466329)_(2869233_?)del
|
|
|
NC_000011.9:g.(?_2549138)_(2610104_?)dup
|
|
|
NC_000011.9:g.(?_2549148)_(2683321_?)dup
|
|
|
NC_000011.9:g.(?_2591838)_(2594236_?)dup
|
|
|
NC_000011.9:g.(?_2591838)_(2604795_?)dup
|
|
|
NC_000011.9:g.(?_2591838)_(2610104_?)del
|
|
|
NC_000011.9:g.(?_2591838)_(2610104_?)dup
|
|
|
NC_000011.9:g.(?_2591848)_(2592643_?)del
|
|
|
NC_000011.9:g.(?_2591848)_(2683321_?)del
|
|
|
NC_000011.9:g.(?_2604665)_(2610084_?)del
|
|
|
NC_000011.9:g.(?_2606422)_(2608942_?)del
|
|
|
NC_000011.9:g.(?_2629548)_(2721238_?)dup
|
|
|
NC_000011.9:g.(?_2683171)_(2683331_?)del
|
|
|
NC_000011.9:g.(?_2790054)_(2799287_?)del
|
|
|
NC_000011.9:g.(?_2790054)_(2799287_?)dup
|
|
|
NC_000011.9:g.(?_2797170)_(2798282_?)del
|
|
|
NC_000011.9:g.(?_2799186)_(2799287_?)del
|
|
|
NC_000012.11:g.(?_116418535)_(116420428_?)del
|
|
|
NC_000012.11:g.(?_116534454)_(116534577_?)del
|
|
|
NC_000012.11:g.(?_116534454)_(116549337_?)del
|
|
|
NC_000012.11:g.(?_1949885)_(2764424_?)dup
|
|
|
NC_000012.11:g.(?_2016586)_(2558301_?)dup
|
|
|
NC_000012.11:g.(?_2162709)_(2666163_?)dup
|
|
|
NC_000012.11:g.(?_2162719)_(2229606_?)dup
|
|
|
NC_000012.11:g.(?_2162719)_(2666153_?)dup
|
|
|
NC_000012.11:g.(?_2162729)_(2229616_?)del
|
|
|
NC_000012.11:g.(?_2162729)_(2800365_?)del
|
|
|
NC_000012.11:g.(?_2162729)_(2800365_?)dup
|
|
|
NC_000012.11:g.(?_2224370)_(2224731_?)dup
|
|
|
NC_000012.11:g.(?_2224380)_(2800375_?)dup
|
|
|
NC_000012.11:g.(?_2558122)_(2566892_?)dup
|
|
|
NC_000012.11:g.(?_2558122)_(2800365_?)dup
|
|
|
NC_000012.11:g.(?_2558132)_(2800365_?)dup
|
|
|
NC_000012.11:g.(?_2659099)_(2695080_?)dup
|
|
|
NC_000012.11:g.(?_2690736)_(2800365_?)dup
|
|
|
NC_000012.11:g.(?_2757621)_(2800385_?)dup
|
|
|
NC_000012.11:g.(?_2794882)_(2795455_?)dup
|
|
|
NC_000012.11:g.(?_2794882)_(2800365_?)del
|
|
|
NC_000012.11:g.(?_2794882)_(2800365_?)dup
|
|
|
NC_000012.11:g.(?_2794882)_(2800385_?)dup
|
|
|
NC_000012.11:g.(?_2795312)_(2800365_?)dup
|
|
|
NC_000012.11:g.(?_2797593)_(2800385_?)dup
|
|
|
NC_000012.11:g.(?_2800046)_(2800365_?)dup
|
|
|
NC_000012.12:g.(?_115961246)_(116096772_?)del
|
|
|
NC_000012.12:g.(?_2448975)_(2691199_?)dup
|
|
|
NC_000012.12:g.(?_2685726)_(2691209_?)dup
|
|
|
NC_000012.12:g.(?_2686156)_(2691209_?)del
|
|
|
NC_000012.12:g.(?_2690890)_(2691209_?)dup
|
|
|
NC_000014.8:g.(?_90863575)_(90871061_?)dup
|
|
|
NC_000014.8:g.(?_90870713)_(90871071_?)dup
|
|
|
NC_000015.10:g.(?_34788628)_(34794818_?)dup
|
|
|
NC_000015.9:g.(?_34526082)_(35087009_?)del
|
|
|
NC_000015.9:g.(?_35080829)_(35087019_?)del
|
|
|
NC_000015.9:g.(?_35082593)_(35087029_?)dup
|
|
|
NC_000015.9:g.(?_96875335)_(96880851_?)dup
|
|
|
NC_000017.10:g.(?_68171181)_(68172464_?)del
|
|
|
NC_000017.10:g.(?_68171181)_(68172464_?)dup
|
|
|
NC_000018.10:g.(?_22168362)_(22172289_?)del
|
|
|
NC_000018.9:g.(?_19383858)_(19780786_?)dup
|
|
|
NC_000018.9:g.(?_19780599)_(19780786_?)dup
|
|
|
NC_000018.9:g.(?_32335941)_(32464709_?)dup
|
|
|
NC_000018.9:g.(?_32391903)_(32464709_?)dup
|
|
|
NC_000019.9:g.(?_47104692)_(47260195_?)dup
|
|
|
NC_000019.9:g.(?_47109064)_(47112410_?)dup
|
|
|
NC_000020.10:g.(?_31996293)_(33338342_?)del
|
|
|
NC_000020.10:g.(?_31996293)_(33761838_?)del
|
|
|
NC_000020.10:g.(?_31996313)_(32026852_?)dup
|
|
|
NC_000020.10:g.(?_32026637)_(32031436_?)dup
|
|
|
NC_000021.8:g.(?_35736455)_(35821942_?)dup
|
|
|
NC_000021.8:g.(?_35736455)_(35821952_?)dup
|
|
|
NC_000021.8:g.(?_35742768)_(35743160_?)del
|
|
|
NC_000021.8:g.(?_35742772)_(36421202_?)del
|
|
|
NC_000021.8:g.(?_35742778)_(35821932_?)dup
|
|
|
NC_000021.8:g.(?_35821543)_(35821932_?)del
|
|
|
NC_000023.10:g.(?_135067662)_(136652229_?)del
|
|
|
NC_000023.10:g.(?_136648845)_(136652234_?)dup
|
|
|
NG_009091.1(KCNE1):g.[66853A>C;66857T>C]
|
rs281865421
|
|
NM_000218.2(KCNQ1):c.1795_1803dup (p.Gln601_Leu602insValThrGln)
|
|
|
NM_000218.3(KCNQ1):c.1000_1003del (p.Val334fs)
|
|
|
NM_000218.3(KCNQ1):c.1004T>G (p.Phe335Cys)
|
rs2133750895
|
|
NM_000218.3(KCNQ1):c.1004_1005del (p.Phe335fs)
|
rs794728581
|
|
NM_000218.3(KCNQ1):c.1009A>T (p.Ile337Phe)
|
rs794728520
|
|
NM_000218.3(KCNQ1):c.1013C>T (p.Ser338Phe)
|
rs199472758
|
|
NM_000218.3(KCNQ1):c.1014C>T (p.Ser338=)
|
|
|
NM_000218.3(KCNQ1):c.1014CTT[1] (p.Phe340del)
|
rs397508068
|
|
NM_000218.3(KCNQ1):c.1015T>C (p.Phe339Leu)
|
|
|
NM_000218.3(KCNQ1):c.1016T>A (p.Phe339Tyr)
|
rs199472759
|
|
NM_000218.3(KCNQ1):c.1016T>C (p.Phe339Ser)
|
rs199472759
|
|
NM_000218.3(KCNQ1):c.1018T>C (p.Phe340Leu)
|
rs2133750942
|
|
NM_000218.3(KCNQ1):c.1022C>A (p.Ala341Glu)
|
rs12720459
|
|
NM_000218.3(KCNQ1):c.1022C>G (p.Ala341Gly)
|
rs12720459
|
|
NM_000218.3(KCNQ1):c.1022C>T (p.Ala341Val)
|
rs12720459
|
|
NM_000218.3(KCNQ1):c.1024C>T (p.Leu342Phe)
|
rs199472760
|
|
NM_000218.3(KCNQ1):c.1025T>A (p.Leu342His)
|
rs794728522
|
|
NM_000218.3(KCNQ1):c.1026C>A (p.Leu342=)
|
rs1848537794
|
|
NM_000218.3(KCNQ1):c.1027C>T (p.Pro343Ser)
|
rs199472762
|
|
NM_000218.3(KCNQ1):c.1029_1031dup (p.Ala344_Gly345insAla)
|
rs794728559
|
|
NM_000218.3(KCNQ1):c.102C>A (p.Cys34Ter)
|
|
|
NM_000218.3(KCNQ1):c.1030G>A (p.Ala344Thr)
|
rs1554894481
|
|
NM_000218.3(KCNQ1):c.1031C>A (p.Ala344Glu)
|
rs199472763
|
|
NM_000218.3(KCNQ1):c.1031C>G (p.Ala344Gly)
|
rs199472763
|
|
NM_000218.3(KCNQ1):c.1032+12G>A
|
rs1011077828
|
|
NM_000218.3(KCNQ1):c.1032+16G>A
|
|
|
NM_000218.3(KCNQ1):c.1032+19C>T
|
|
|
NM_000218.3(KCNQ1):c.1032+1G>C
|
|
|
NM_000218.3(KCNQ1):c.1032+1G>T
|
|
|
NM_000218.3(KCNQ1):c.1032+20G>A
|
|
|
NM_000218.3(KCNQ1):c.1032+2T>C
|
rs1848538318
|
|
NM_000218.3(KCNQ1):c.1032+3A>T
|
|
|
NM_000218.3(KCNQ1):c.1032+4G>C
|
|
|
NM_000218.3(KCNQ1):c.1032+5G>T
|
rs397508071
|
|
NM_000218.3(KCNQ1):c.1032+7G>A
|
rs760839693
|
|
NM_000218.3(KCNQ1):c.1032+8C>T
|
rs2133751041
|
|
NM_000218.3(KCNQ1):c.1033-12A>C
|
rs200423553
|
|
NM_000218.3(KCNQ1):c.1033-14C>A
|
|
|
NM_000218.3(KCNQ1):c.1033-19C>T
|
|
|
NM_000218.3(KCNQ1):c.1033-1_1117dup
|
|
|
NM_000218.3(KCNQ1):c.1033-2A>C
|
rs794728523
|
|
NM_000218.3(KCNQ1):c.1033-5C>T
|
rs764094211
|
|
NM_000218.3(KCNQ1):c.1033G>A (p.Gly345Arg)
|
rs199473471
|
|
NM_000218.3(KCNQ1):c.1033G>C (p.Gly345Arg)
|
rs199473471
|
|
NM_000218.3(KCNQ1):c.1038del (p.Gly348fs)
|
|
|
NM_000218.3(KCNQ1):c.1045T>C (p.Ser349Pro)
|
rs199472764
|
|
NM_000218.3(KCNQ1):c.1046C>A (p.Ser349Ter)
|
rs199472765
|
|
NM_000218.3(KCNQ1):c.1046C>G (p.Ser349Trp)
|
rs199472765
|
|
NM_000218.3(KCNQ1):c.1047G>C (p.Ser349=)
|
|
|
NM_000218.3(KCNQ1):c.1049G>T (p.Gly350Val)
|
rs794728524
|
|
NM_000218.3(KCNQ1):c.104C>G (p.Pro35Arg)
|
|
|
NM_000218.3(KCNQ1):c.104C>T (p.Pro35Leu)
|
rs1373379406
|
|
NM_000218.3(KCNQ1):c.1051T>C (p.Phe351Leu)
|
rs779383393
|
|
NM_000218.3(KCNQ1):c.1054G>C (p.Ala352Pro)
|
|
|
NM_000218.3(KCNQ1):c.1055C>A (p.Ala352Asp)
|
|
|
NM_000218.3(KCNQ1):c.1058T>C (p.Leu353Pro)
|
rs199473403
|
|
NM_000218.3(KCNQ1):c.105C>T (p.Pro35=)
|
|
|
NM_000218.3(KCNQ1):c.1066C>T (p.Gln356Ter)
|
rs397508072
|
|
NM_000218.3(KCNQ1):c.1066_1071del (p.Gln356_Gln357del)
|
rs397508073
|
|
NM_000218.3(KCNQ1):c.1069C>G (p.Gln357Glu)
|
rs1554894743
|
|
NM_000218.3(KCNQ1):c.1069C>T (p.Gln357Ter)
|
rs1554894743
|
|
NM_000218.3(KCNQ1):c.1070A>G (p.Gln357Arg)
|
rs199473405
|
|
NM_000218.3(KCNQ1):c.1075C>T (p.Gln359Ter)
|
rs397508075
|
|
NM_000218.3(KCNQ1):c.1076A>C (p.Gln359Pro)
|
rs1085307965
|
|
NM_000218.3(KCNQ1):c.1079_1084dup (p.Gln361_Lys362insArgGln)
|
rs1848576084
|
|
NM_000218.3(KCNQ1):c.1081C>G (p.Gln361Glu)
|
rs794728571
|
|
NM_000218.3(KCNQ1):c.1081C>T (p.Gln361Ter)
|
rs794728571
|
|
NM_000218.3(KCNQ1):c.1087C>A (p.His363Asn)
|
rs199473408
|
|
NM_000218.3(KCNQ1):c.1089C>T (p.His363=)
|
rs1589967006
|
|
NM_000218.3(KCNQ1):c.1092C>T (p.Phe364=)
|
rs2133754700
|
|
NM_000218.3(KCNQ1):c.1095C>T (p.Asn365=)
|
rs1589967022
|
|
NM_000218.3(KCNQ1):c.1095_1096delinsAT (p.Asn365_Arg366delinsLysTrp)
|
|
|
NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp)
|
rs199473411
|
|
NM_000218.3(KCNQ1):c.1097G>A (p.Arg366Gln)
|
rs199473410
|
|
NM_000218.3(KCNQ1):c.1097G>C (p.Arg366Pro)
|
rs199473410
|
|
NM_000218.3(KCNQ1):c.1097G>T (p.Arg366Leu)
|
rs199473410
|
|
NM_000218.3(KCNQ1):c.1098G>A (p.Arg366=)
|
rs1848576720
|
|
NM_000218.3(KCNQ1):c.1100A>G (p.Gln367Arg)
|
rs2133754743
|
|
NM_000218.3(KCNQ1):c.1101G>A (p.Gln367=)
|
rs199473663
|
|
NM_000218.3(KCNQ1):c.1101G>T (p.Gln367His)
|
rs199473663
|
|
NM_000218.3(KCNQ1):c.1104C>A (p.Ile368=)
|
|
|
NM_000218.3(KCNQ1):c.1111G>C (p.Ala371Pro)
|
rs199473412
|
|
NM_000218.3(KCNQ1):c.1112C>A (p.Ala371Glu)
|
rs1848577150
|
|
NM_000218.3(KCNQ1):c.1113A>T (p.Ala371=)
|
rs2133754803
|
|
NM_000218.3(KCNQ1):c.1120C>T (p.Leu374Phe)
|
|
|
NM_000218.3(KCNQ1):c.1121T>A (p.Leu374His)
|
rs199472767
|
|
NM_000218.3(KCNQ1):c.1122del (p.Ile375fs)
|
|
|
NM_000218.3(KCNQ1):c.1124_1127del (p.Ile375fs)
|
rs397508077
|
|
NM_000218.3(KCNQ1):c.1126C>G (p.Gln376Glu)
|
rs1564825414
|
|
NM_000218.3(KCNQ1):c.1126C>T (p.Gln376Ter)
|
rs1564825414
|
|
NM_000218.3(KCNQ1):c.1127A>G (p.Gln376Arg)
|
rs2133754848
|
|
NM_000218.3(KCNQ1):c.1128+15A>G
|
|
|
NM_000218.3(KCNQ1):c.1128+20C>T
|
|
|
NM_000218.3(KCNQ1):c.1128+2T>A
|
rs2133754863
|
|
NM_000218.3(KCNQ1):c.1128+5G>C
|
|
|
NM_000218.3(KCNQ1):c.1128+6G>A
|
rs558595162
|
|
NM_000218.3(KCNQ1):c.1128+9C>T
|
|
|
NM_000218.3(KCNQ1):c.1129-17C>A
|
rs374941727
|
|
NM_000218.3(KCNQ1):c.1129-17C>T
|
|
|
NM_000218.3(KCNQ1):c.1129-18C>T
|
|
|
NM_000218.3(KCNQ1):c.1129-4_1151del
|
|
|
NM_000218.3(KCNQ1):c.1129-8G>A
|
rs200612600
|
|
NM_000218.3(KCNQ1):c.1129-8G>C
|
|
|
NM_000218.3(KCNQ1):c.1129-8G>T
|
rs200612600
|
|
NM_000218.3(KCNQ1):c.1132G>T (p.Ala378Ser)
|
rs756571615
|
|
NM_000218.3(KCNQ1):c.1135T>C (p.Trp379Arg)
|
rs199472768
|
|
NM_000218.3(KCNQ1):c.1138A>T (p.Arg380Trp)
|
rs199472770
|
|
NM_000218.3(KCNQ1):c.1140G>T (p.Arg380Ser)
|
rs199472771
|
|
NM_000218.3(KCNQ1):c.1143C>G (p.Cys381Trp)
|
rs1848610060
|
|
NM_000218.3(KCNQ1):c.1146T>C (p.Tyr382=)
|
rs2133758141
|
|
NM_000218.3(KCNQ1):c.1148dup (p.Ala384fs)
|
rs2133758146
|
|
NM_000218.3(KCNQ1):c.114G>A (p.Leu38=)
|
rs1386513213
|
|
NM_000218.3(KCNQ1):c.1150G>A (p.Ala384Thr)
|
rs1848610150
|
|
NM_000218.3(KCNQ1):c.1158C>A (p.Asn386Lys)
|
|
|
NM_000218.3(KCNQ1):c.1158C>T (p.Asn386=)
|
|
|
NM_000218.3(KCNQ1):c.1165T>G (p.Ser389Ala)
|
rs199472772
|
|
NM_000218.3(KCNQ1):c.1165_1166inv (p.Ser389Asp)
|
|
|
NM_000218.3(KCNQ1):c.1166C>T (p.Ser389Phe)
|
|
|
NM_000218.3(KCNQ1):c.1171A>C (p.Thr391Pro)
|
|
|
NM_000218.3(KCNQ1):c.1175G>A (p.Trp392Ter)
|
rs1060500629
|
|
NM_000218.3(KCNQ1):c.1178A>T (p.Lys393Met)
|
rs199472775
|
|
NM_000218.3(KCNQ1):c.1182del (p.Tyr395fs)
|
rs2133758295
|
|
NM_000218.3(KCNQ1):c.1188C>A (p.Ile396=)
|
rs2133758311
|
|
NM_000218.3(KCNQ1):c.1193A>G (p.Lys398Arg)
|
rs199472777
|
|
NM_000218.3(KCNQ1):c.1195G>T (p.Ala399Ser)
|
rs571899254
|
|
NM_000218.3(KCNQ1):c.1196C>G (p.Ala399Gly)
|
rs876657836
|
|
NM_000218.3(KCNQ1):c.1196C>T (p.Ala399Val)
|
rs876657836
|
|
NM_000218.3(KCNQ1):c.1197C>T (p.Ala399=)
|
|
|
NM_000218.3(KCNQ1):c.1200C>T (p.Pro400=)
|
|
|
NM_000218.3(KCNQ1):c.1201dup (p.Arg401fs)
|
rs397508082
|
|
NM_000218.3(KCNQ1):c.1202G>C (p.Arg401Pro)
|
|
|
NM_000218.3(KCNQ1):c.1205G>A (p.Ser402Asn)
|
rs878853753
|
|
NM_000218.3(KCNQ1):c.1207del (p.His403fs)
|
rs1848612978
|
|
NM_000218.3(KCNQ1):c.1210_1222del (p.Thr404fs)
|
rs2133758446
|
|
NM_000218.3(KCNQ1):c.1218G>A (p.Leu406=)
|
rs890420565
|
|
NM_000218.3(KCNQ1):c.1221A>G (p.Ser407=)
|
rs1589968626
|
|
NM_000218.3(KCNQ1):c.1223C>G (p.Pro408Arg)
|
|
|
NM_000218.3(KCNQ1):c.1224C>T (p.Pro408=)
|
rs1342663112
|
|
NM_000218.3(KCNQ1):c.1233del (p.Lys411fs)
|
rs1848613641
|
|
NM_000218.3(KCNQ1):c.1236C>G (p.Pro412=)
|
rs1060503984
|
|
NM_000218.3(KCNQ1):c.1236C>T (p.Pro412=)
|
rs1060503984
|
|
NM_000218.3(KCNQ1):c.1240A>T (p.Lys414Ter)
|
|
|
NM_000218.3(KCNQ1):c.1248G>C (p.Val416=)
|
|
|
NM_000218.3(KCNQ1):c.1251+13C>A
|
rs201364493
|
|
NM_000218.3(KCNQ1):c.1251+13C>G
|
|
|
NM_000218.3(KCNQ1):c.1251+13C>T
|
rs201364493
|
|
NM_000218.3(KCNQ1):c.1251+1G>A
|
rs1589968661
|
|
NM_000218.3(KCNQ1):c.1251+5G>A
|
rs1564826087
|
|
NM_000218.3(KCNQ1):c.1251+7A>G
|
|
|
NM_000218.3(KCNQ1):c.1251+9C>T
|
|
|
NM_000218.3(KCNQ1):c.1251G>T (p.Val417=)
|
|
|
NM_000218.3(KCNQ1):c.1252-11_1252-9del
|
|
|
NM_000218.3(KCNQ1):c.1252-18T>C
|
|
|
NM_000218.3(KCNQ1):c.1252-19G>C
|
|
|
NM_000218.3(KCNQ1):c.1252-20T>C
|
|
|
NM_000218.3(KCNQ1):c.1252-2A>C
|
rs771458482
|
|
NM_000218.3(KCNQ1):c.1252-3del
|
rs12720450
|
|
NM_000218.3(KCNQ1):c.1252-3dup
|
rs12720450
|
|
NM_000218.3(KCNQ1):c.1252-8T>C
|
rs761247239
|
|
NM_000218.3(KCNQ1):c.1257del (p.Lys422fs)
|
rs1554895166
|
|
NM_000218.3(KCNQ1):c.1260A>G (p.Lys420=)
|
|
|
NM_000218.3(KCNQ1):c.1265del (p.Lys422fs)
|
rs397508083
|
|
NM_000218.3(KCNQ1):c.1265dup (p.Phe423fs)
|
rs397508083
|
|
NM_000218.3(KCNQ1):c.1272G>A (p.Lys424=)
|
|
|
NM_000218.3(KCNQ1):c.1281dup (p.Asp428fs)
|
|
|
NM_000218.3(KCNQ1):c.1287T>C (p.Asn429=)
|
|
|
NM_000218.3(KCNQ1):c.1290G>A (p.Gly430=)
|
rs1848629909
|
|
NM_000218.3(KCNQ1):c.1290_1301del (p.Val431_Gly434del)
|
rs750178990
|
|
NM_000218.3(KCNQ1):c.1301G>A (p.Gly434Glu)
|
|
|
NM_000218.3(KCNQ1):c.130G>A (p.Gly44Ser)
|
|
|
NM_000218.3(KCNQ1):c.1317A>G (p.Thr439=)
|
|
|
NM_000218.3(KCNQ1):c.1320C>A (p.Val440=)
|
rs781151116
|
|
NM_000218.3(KCNQ1):c.1320C>G (p.Val440=)
|
rs781151116
|
|
NM_000218.3(KCNQ1):c.1323C>A (p.Pro441=)
|
|
|
NM_000218.3(KCNQ1):c.1324C>G (p.His442Asp)
|
rs72549409
|
|
NM_000218.3(KCNQ1):c.1326T>C (p.His442=)
|
|
|
NM_000218.3(KCNQ1):c.1327A>G (p.Ile443Val)
|
rs1848631038
|
|
NM_000218.3(KCNQ1):c.1331C>T (p.Thr444Met)
|
|
|
NM_000218.3(KCNQ1):c.1338C>A (p.Asp446Glu)
|
rs199472780
|
|
NM_000218.3(KCNQ1):c.1338C>G (p.Asp446Glu)
|
rs199472780
|
|
NM_000218.3(KCNQ1):c.1340C>A (p.Pro447His)
|
rs143149582
|
|
NM_000218.3(KCNQ1):c.1341C>T (p.Pro447=)
|
rs374829273
|
|
NM_000218.3(KCNQ1):c.1343C>A (p.Pro448Gln)
|
rs12720449
|
|
NM_000218.3(KCNQ1):c.1343C>G (p.Pro448Arg)
|
rs12720449
|
|
NM_000218.3(KCNQ1):c.1343C>T (p.Pro448Leu)
|
rs12720449
|
|
NM_000218.3(KCNQ1):c.1343del (p.Pro448fs)
|
rs397508087
|
|
NM_000218.3(KCNQ1):c.1343dup (p.Glu449fs)
|
rs397508087
|
|
NM_000218.3(KCNQ1):c.1344dup (p.Glu449fs)
|
rs1848631690
|
|
NM_000218.3(KCNQ1):c.1349A>G (p.Glu450Gly)
|
rs1057518902
|
|
NM_000218.3(KCNQ1):c.134C>G (p.Pro45Arg)
|
rs1173954679
|
|
NM_000218.3(KCNQ1):c.134C>T (p.Pro45Leu)
|
|
|
NM_000218.3(KCNQ1):c.1350G>A (p.Glu450=)
|
rs767449004
|
|
NM_000218.3(KCNQ1):c.1354del (p.Arg452fs)
|
rs2133760795
|
|
NM_000218.3(KCNQ1):c.1355G>T (p.Arg452Leu)
|
rs145229963
|
|
NM_000218.3(KCNQ1):c.1356G>A (p.Arg452=)
|
rs753619991
|
|
NM_000218.3(KCNQ1):c.1359G>A (p.Leu453=)
|
|
|
NM_000218.3(KCNQ1):c.135G>A (p.Pro45=)
|
|
|
NM_000218.3(KCNQ1):c.135G>C (p.Pro45=)
|
|
|
NM_000218.3(KCNQ1):c.1368C>T (p.Phe456=)
|
|
|
NM_000218.3(KCNQ1):c.136_147dup (p.Ala49_Leu50insAlaGlyGlyAla)
|
|
|
NM_000218.3(KCNQ1):c.1374C>T (p.Val458=)
|
rs778598703
|
|
NM_000218.3(KCNQ1):c.1375G>T (p.Asp459Tyr)
|
|
|
NM_000218.3(KCNQ1):c.1377C>G (p.Asp459Glu)
|
rs200418488
|
|
NM_000218.3(KCNQ1):c.1383T>A (p.Tyr461Ter)
|
rs794728527
|
|
NM_000218.3(KCNQ1):c.1393+19G>A
|
|
|
NM_000218.3(KCNQ1):c.1393+9C>T
|
rs774803201
|
|
NM_000218.3(KCNQ1):c.1394-12C>T
|
|
|
NM_000218.3(KCNQ1):c.1394-13_1394-12del
|
rs550005589
|
|
NM_000218.3(KCNQ1):c.1394-1G>C
|
rs775537394
|
|
NM_000218.3(KCNQ1):c.1394-1G>T
|
rs775537394
|
|
NM_000218.3(KCNQ1):c.1394-2A>G
|
rs2133855926
|
|
NM_000218.3(KCNQ1):c.1394-3C>T
|
rs2133855922
|
|
NM_000218.3(KCNQ1):c.1394-6C>A
|
rs759714698
|
|
NM_000218.3(KCNQ1):c.1394-6C>T
|
rs759714698
|
|
NM_000218.3(KCNQ1):c.1394-8C>A
|
rs371488379
|
|
NM_000218.3(KCNQ1):c.1394-8C>G
|
rs371488379
|
|
NM_000218.3(KCNQ1):c.1394-8C>T
|
rs371488379
|
|
NM_000218.3(KCNQ1):c.1394-9T>C
|
|
|
NM_000218.3(KCNQ1):c.1405C>T (p.Pro469Ser)
|
|
|
NM_000218.3(KCNQ1):c.1406C>T (p.Pro469Leu)
|
|
|
NM_000218.3(KCNQ1):c.1408A>G (p.Thr470Ala)
|
rs2133855949
|
|
NM_000218.3(KCNQ1):c.1429C>T (p.Pro477Ser)
|
rs1162587598
|
|
NM_000218.3(KCNQ1):c.1430C>T (p.Pro477Leu)
|
rs199472784
|
|
NM_000218.3(KCNQ1):c.1431C>G (p.Pro477=)
|
|
|
NM_000218.3(KCNQ1):c.1432C>A (p.His478Asn)
|
|
|
NM_000218.3(KCNQ1):c.1436T>A (p.Phe479Tyr)
|
rs1849965891
|
|
NM_000218.3(KCNQ1):c.1437C>A (p.Phe479Leu)
|
rs1849965957
|
|
NM_000218.3(KCNQ1):c.1437C>G (p.Phe479Leu)
|
|
|
NM_000218.3(KCNQ1):c.1439T>C (p.Met480Thr)
|
|
|
NM_000218.3(KCNQ1):c.1446del (p.Asn483fs)
|
rs794728558
|
|
NM_000218.3(KCNQ1):c.1448A>G (p.Asn483Ser)
|
rs866469017
|
|
NM_000218.3(KCNQ1):c.1449C>T (p.Asn483=)
|
rs1849966701
|
|
NM_000218.3(KCNQ1):c.144C>G (p.Gly48=)
|
rs1060503985
|
|
NM_000218.3(KCNQ1):c.1456G>C (p.Ala486Pro)
|
rs753256800
|
|
NM_000218.3(KCNQ1):c.1462G>A (p.Asp488Asn)
|
rs2133856134
|
|
NM_000218.3(KCNQ1):c.1462G>C (p.Asp488His)
|
rs2133856134
|
|
NM_000218.3(KCNQ1):c.1464CCTGGA[3] (p.Leu491_Glu492insAspLeu)
|
rs1254052516
|
|
NM_000218.3(KCNQ1):c.1467G>C (p.Leu489=)
|
rs1849967508
|
|
NM_000218.3(KCNQ1):c.1476del (p.Glu494fs)
|
|
|
NM_000218.3(KCNQ1):c.147G>T (p.Ala49=)
|
rs2133559634
|
|
NM_000218.3(KCNQ1):c.1481A>G (p.Glu494Gly)
|
|
|
NM_000218.3(KCNQ1):c.1482G>T (p.Glu494Asp)
|
|
|
NM_000218.3(KCNQ1):c.1486_1487del (p.Leu496fs)
|
rs397508090
|
|
NM_000218.3(KCNQ1):c.1487T>A (p.Leu496Gln)
|
rs1849967991
|
|
NM_000218.3(KCNQ1):c.1494A>G (p.Thr498=)
|
rs2133856204
|
|
NM_000218.3(KCNQ1):c.1499T>C (p.Ile500Thr)
|
|
|
NM_000218.3(KCNQ1):c.1505A>C (p.His502Pro)
|
|
|
NM_000218.3(KCNQ1):c.1513C>T (p.Gln505Ter)
|
rs397508091
|
|
NM_000218.3(KCNQ1):c.1514+10T>C
|
rs2133856285
|
|
NM_000218.3(KCNQ1):c.1514+17G>T
|
|
|
NM_000218.3(KCNQ1):c.1515-10T>C
|
|
|
NM_000218.3(KCNQ1):c.1515-13C>G
|
rs2133980915
|
|
NM_000218.3(KCNQ1):c.1515-16C>T
|
|
|
NM_000218.3(KCNQ1):c.1515-2_1515-1del
|
rs1564886323
|
|
NM_000218.3(KCNQ1):c.1515-7_1515-6insGC
|
rs1554919460
|
|
NM_000218.3(KCNQ1):c.1525_1544del (p.His509fs)
|
|
|
NM_000218.3(KCNQ1):c.1527C>A (p.His509Gln)
|
|
|
NM_000218.3(KCNQ1):c.152A>G (p.Tyr51Cys)
|
|
|
NM_000218.3(KCNQ1):c.1531C>T (p.Arg511Trp)
|
rs199472785
|
|
NM_000218.3(KCNQ1):c.1537A>T (p.Thr513Ser)
|
rs778975231
|
|
NM_000218.3(KCNQ1):c.153C>A (p.Tyr51Ter)
|
rs397508096
|
|
NM_000218.3(KCNQ1):c.153C>G (p.Tyr51Ter)
|
rs397508096
|
|
NM_000218.3(KCNQ1):c.1540A>G (p.Ile514Val)
|
|
|
NM_000218.3(KCNQ1):c.1545G>T (p.Lys515Asn)
|
rs794728532
|
|
NM_000218.3(KCNQ1):c.1546G>A (p.Val516Ile)
|
|
|
NM_000218.3(KCNQ1):c.1552C>G (p.Arg518Gly)
|
rs17215500
|
|
NM_000218.3(KCNQ1):c.1559T>A (p.Met520Lys)
|
|
|
NM_000218.3(KCNQ1):c.1559T>C (p.Met520Thr)
|
rs199473479
|
|
NM_000218.3(KCNQ1):c.1559T>G (p.Met520Arg)
|
rs199473479
|
|
NM_000218.3(KCNQ1):c.1559_1562del (p.Met520fs)
|
|
|
NM_000218.3(KCNQ1):c.1560G>A (p.Met520Ile)
|
rs1846543163
|
|
NM_000218.3(KCNQ1):c.1571T>G (p.Val524Gly)
|
rs199472790
|
|
NM_000218.3(KCNQ1):c.1573G>A (p.Ala525Thr)
|
rs120074188
|
|
NM_000218.3(KCNQ1):c.1574C>T (p.Ala525Val)
|
rs199472791
|
|
NM_000218.3(KCNQ1):c.1576A>C (p.Lys526Gln)
|
rs199472792
|
|
NM_000218.3(KCNQ1):c.1583_1584insTA (p.Lys528fs)
|
|
|
NM_000218.3(KCNQ1):c.1587C>A (p.Phe529Leu)
|
|
|
NM_000218.3(KCNQ1):c.1587C>T (p.Phe529=)
|
|
|
NM_000218.3(KCNQ1):c.1589A>C (p.Gln530Pro)
|
rs1057524487
|
|
NM_000218.3(KCNQ1):c.1590+10G>A
|
rs2133981173
|
|
NM_000218.3(KCNQ1):c.1590+18C>G
|
rs1415384223
|
|
NM_000218.3(KCNQ1):c.1590+18C>T
|
|
|
NM_000218.3(KCNQ1):c.1590+8C>A
|
rs2133981170
|
|
NM_000218.3(KCNQ1):c.1590+8C>T
|
|
|
NM_000218.3(KCNQ1):c.1590G>A (p.Gln530=)
|
rs1846543956
|
|
NM_000218.3(KCNQ1):c.1591-17G>A
|
|
|
NM_000218.3(KCNQ1):c.1591-1G>A
|
rs1590081328
|
|
NM_000218.3(KCNQ1):c.1591-20C>T
|
rs772628940
|
|
NM_000218.3(KCNQ1):c.1591-4G>T
|
rs555518358
|
|
NM_000218.3(KCNQ1):c.1591C>T (p.Gln531Ter)
|
rs1381293874
|
|
NM_000218.3(KCNQ1):c.1595C>T (p.Ala532Val)
|
rs867549263
|
|
NM_000218.3(KCNQ1):c.1596G>T (p.Ala532=)
|
rs558452873
|
|
NM_000218.3(KCNQ1):c.1597C>G (p.Arg533Gly)
|
|
|
NM_000218.3(KCNQ1):c.1599G>A (p.Arg533=)
|
|
|
NM_000218.3(KCNQ1):c.159C>T (p.Pro53=)
|
rs1057520456
|
|
NM_000218.3(KCNQ1):c.15C>T (p.Ser5=)
|
|
|
NM_000218.3(KCNQ1):c.1603C>A (p.Pro535Thr)
|
rs2133989242
|
|
NM_000218.3(KCNQ1):c.1608C>A (p.Tyr536Ter)
|
rs138551008
|
|
NM_000218.3(KCNQ1):c.160_168dup (p.Ile54_Pro56dup)
|
rs397515877
|
|
NM_000218.3(KCNQ1):c.160_175del (p.Ile54fs)
|
rs2133559667
|
|
NM_000218.3(KCNQ1):c.1611T>C (p.Asp537=)
|
rs1590081349
|
|
NM_000218.3(KCNQ1):c.1616G>A (p.Arg539Gln)
|
rs199472794
|
|
NM_000218.3(KCNQ1):c.1632G>A (p.Gln544=)
|
|
|
NM_000218.3(KCNQ1):c.1634A>T (p.Tyr545Phe)
|
|
|
NM_000218.3(KCNQ1):c.1637C>T (p.Ser546Leu)
|
rs199473480
|
|
NM_000218.3(KCNQ1):c.1638G>T (p.Ser546=)
|
|
|
NM_000218.3(KCNQ1):c.1640A>G (p.Gln547Arg)
|
rs199472798
|
|
NM_000218.3(KCNQ1):c.1643G>A (p.Gly548Asp)
|
rs199472799
|
|
NM_000218.3(KCNQ1):c.165_187del (p.Gly57fs)
|
rs794728563
|
|
NM_000218.3(KCNQ1):c.1660del (p.Val554fs)
|
rs794728561
|
|
NM_000218.3(KCNQ1):c.1663C>A (p.Arg555Ser)
|
rs120074185
|
|
NM_000218.3(KCNQ1):c.1663C>T (p.Arg555Cys)
|
rs120074185
|
|
NM_000218.3(KCNQ1):c.1664G>T (p.Arg555Leu)
|
rs199472800
|
|
NM_000218.3(KCNQ1):c.1665C>T (p.Arg555=)
|
rs878853755
|
|
NM_000218.3(KCNQ1):c.1669A>G (p.Lys557Glu)
|
rs199472801
|
|
NM_000218.3(KCNQ1):c.1672G>A (p.Glu558Lys)
|
|
|
NM_000218.3(KCNQ1):c.1673A>G (p.Glu558Gly)
|
|
|
NM_000218.3(KCNQ1):c.1674G>A (p.Glu558=)
|
rs2133989416
|
|
NM_000218.3(KCNQ1):c.1676T>C (p.Leu559Pro)
|
|
|
NM_000218.3(KCNQ1):c.1685+11C>A
|
|
|
NM_000218.3(KCNQ1):c.1685+15A>G
|
|
|
NM_000218.3(KCNQ1):c.1685+16C>T
|
|
|
NM_000218.3(KCNQ1):c.1685+17G>A
|
rs977469911
|
|
NM_000218.3(KCNQ1):c.1685+1G>A
|
rs794728531
|
|
NM_000218.3(KCNQ1):c.1685G>T (p.Arg562Met)
|
rs199472802
|
|
NM_000218.3(KCNQ1):c.1686-14G>A
|
|
|
NM_000218.3(KCNQ1):c.1686-2A>G
|
rs878854350
|
|
NM_000218.3(KCNQ1):c.1686G>T (p.Arg562Ser)
|
rs794728535
|
|
NM_000218.3(KCNQ1):c.1686del
|
rs794728562
|
|
NM_000218.3(KCNQ1):c.1689G>A (p.Leu563=)
|
|
|
NM_000218.3(KCNQ1):c.168C>G (p.Pro56=)
|
rs2133559703
|
|
NM_000218.3(KCNQ1):c.1690G>A (p.Asp564Asn)
|
|
|
NM_000218.3(KCNQ1):c.1691A>G (p.Asp564Gly)
|
rs1554920808
|
|
NM_000218.3(KCNQ1):c.1694A>C (p.Gln565Pro)
|
rs1846716972
|
|
NM_000218.3(KCNQ1):c.1697C>A (p.Ser566Tyr)
|
rs199472804
|
|
NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe)
|
rs199472804
|
|
NM_000218.3(KCNQ1):c.1699A>G (p.Ile567Val)
|
|
|
NM_000218.3(KCNQ1):c.1700T>C (p.Ile567Thr)
|
rs199472805
|
|
NM_000218.3(KCNQ1):c.1702G>A (p.Gly568Arg)
|
rs199472807
|
|
NM_000218.3(KCNQ1):c.1702G>C (p.Gly568Arg)
|
rs199472807
|
|
NM_000218.3(KCNQ1):c.1707G>A (p.Lys569=)
|
rs1288914203
|
|
NM_000218.3(KCNQ1):c.170G>A (p.Gly57Asp)
|
rs199473445
|
|
NM_000218.3(KCNQ1):c.1710C>T (p.Pro570=)
|
rs1322520867
|
|
NM_000218.3(KCNQ1):c.1710del (p.Ser571fs)
|
rs397508099
|
|
NM_000218.3(KCNQ1):c.1712C>T (p.Ser571Leu)
|
rs199472809
|
|
NM_000218.3(KCNQ1):c.1713A>G (p.Ser571=)
|
rs1846718527
|
|
NM_000218.3(KCNQ1):c.1714C>G (p.Leu572Val)
|
|
|
NM_000218.3(KCNQ1):c.171C>A (p.Gly57=)
|
|
|
NM_000218.3(KCNQ1):c.1720A>G (p.Ile574Val)
|
rs761947465
|
|
NM_000218.3(KCNQ1):c.1730C>G (p.Ser577Ter)
|
rs2133990821
|
|
NM_000218.3(KCNQ1):c.1732+12T>C
|
|
|
NM_000218.3(KCNQ1):c.1732+15C>T
|
rs1846720431
|
|
NM_000218.3(KCNQ1):c.1732+1G>A
|
rs1846719993
|
|
NM_000218.3(KCNQ1):c.1732+7T>C
|
|
|
NM_000218.3(KCNQ1):c.1733-10T>A
|
|
|
NM_000218.3(KCNQ1):c.1733-1G>C
|
rs878854348
|
|
NM_000218.3(KCNQ1):c.1733-2A>G
|
rs2133992122
|
|
NM_000218.3(KCNQ1):c.1733-9C>T
|
|
|
NM_000218.3(KCNQ1):c.1737G>A (p.Lys579=)
|
|
|
NM_000218.3(KCNQ1):c.1739G>A (p.Ser580Asn)
|
|
|
NM_000218.3(KCNQ1):c.1746T>C (p.Asp582=)
|
rs569971691
|
|
NM_000218.3(KCNQ1):c.1747C>A (p.Arg583Ser)
|
rs17221854
|
|
NM_000218.3(KCNQ1):c.174C>T (p.Ala58=)
|
|
|
NM_000218.3(KCNQ1):c.1754G>A (p.Ser585Asn)
|
rs751125725
|
|
NM_000218.3(KCNQ1):c.1755C>G (p.Ser585Arg)
|
rs1564889912
|
|
NM_000218.3(KCNQ1):c.1760C>G (p.Thr587Arg)
|
rs120074189
|
|
NM_000218.3(KCNQ1):c.1760C>T (p.Thr587Met)
|
rs120074189
|
|
NM_000218.3(KCNQ1):c.1762A>T (p.Ile588Phe)
|
rs794728536
|
|
NM_000218.3(KCNQ1):c.1763T>C (p.Ile588Thr)
|
rs794728576
|
|
NM_000218.3(KCNQ1):c.1770C>A (p.Ala590=)
|
rs1590082970
|
|
NM_000218.3(KCNQ1):c.1771C>T (p.Arg591Cys)
|
rs199473483
|
|
NM_000218.3(KCNQ1):c.1772G>A (p.Arg591His)
|
rs199472814
|
|
NM_000218.3(KCNQ1):c.1772G>C (p.Arg591Pro)
|
rs199472814
|
|
NM_000218.3(KCNQ1):c.1776G>A (p.Leu592=)
|
rs2133992330
|
|
NM_000218.3(KCNQ1):c.1779C>G (p.Asn593Lys)
|
rs1421636319
|
|
NM_000218.3(KCNQ1):c.1780C>A (p.Arg594=)
|
rs794728537
|
|
NM_000218.3(KCNQ1):c.1780C>T (p.Arg594Ter)
|
rs794728537
|
|
NM_000218.3(KCNQ1):c.1781G>C (p.Arg594Pro)
|
rs199472815
|
|
NM_000218.3(KCNQ1):c.1783G>A (p.Val595Ile)
|
|
|
NM_000218.3(KCNQ1):c.1783G>T (p.Val595Leu)
|
|
|
NM_000218.3(KCNQ1):c.1783del (p.Arg594_Val595insTer)
|
rs765169367
|
|
NM_000218.3(KCNQ1):c.1786G>A (p.Glu596Lys)
|
rs199472816
|
|
NM_000218.3(KCNQ1):c.1792_1793del (p.Lys598fs)
|
rs2133992401
|
|
NM_000218.3(KCNQ1):c.1794+10C>G
|
rs558507741
|
|
NM_000218.3(KCNQ1):c.1794+13G>A
|
|
|
NM_000218.3(KCNQ1):c.1794+17G>A
|
|
|
NM_000218.3(KCNQ1):c.1794+18C>T
|
|
|
NM_000218.3(KCNQ1):c.1794+2_1794+5del
|
rs1846743506
|
|
NM_000218.3(KCNQ1):c.1794+5G>A
|
|
|
NM_000218.3(KCNQ1):c.1794G>A (p.Lys598=)
|
rs794728539
|
|
NM_000218.3(KCNQ1):c.1795-14C>G
|
|
|
NM_000218.3(KCNQ1):c.1795-2A>G
|
rs867564993
|
|
NM_000218.3(KCNQ1):c.1795-3C>T
|
|
|
NM_000218.3(KCNQ1):c.1795-5C>A
|
|
|
NM_000218.3(KCNQ1):c.1795G>C (p.Val599Leu)
|
|
|
NM_000218.3(KCNQ1):c.1801C>T (p.Gln601Ter)
|
rs794728540
|
|
NM_000218.3(KCNQ1):c.1809C>A (p.Asp603Glu)
|
rs916154167
|
|
NM_000218.3(KCNQ1):c.1810dup (p.Gln604fs)
|
rs1848361555
|
|
NM_000218.3(KCNQ1):c.1811A>T (p.Gln604Leu)
|
rs794728541
|
|
NM_000218.3(KCNQ1):c.1817T>A (p.Leu606Gln)
|
|
|
NM_000218.3(KCNQ1):c.181C>T (p.Pro61Ser)
|
|
|
NM_000218.3(KCNQ1):c.1823TCA[1] (p.Ile609del)
|
rs1554932667
|
|
NM_000218.3(KCNQ1):c.1826T>A (p.Ile609Asn)
|
|
|
NM_000218.3(KCNQ1):c.1830C>G (p.Thr610=)
|
|
|
NM_000218.3(KCNQ1):c.1831G>T (p.Asp611Tyr)
|
rs147445322
|
|
NM_000218.3(KCNQ1):c.1836G>A (p.Met612Ile)
|
rs878853756
|
|
NM_000218.3(KCNQ1):c.1838T>C (p.Leu613Pro)
|
rs1848362479
|
|
NM_000218.3(KCNQ1):c.1839T>A (p.Leu613=)
|
|
|
NM_000218.3(KCNQ1):c.1844A>G (p.Gln615Arg)
|
rs1848362662
|
|
NM_000218.3(KCNQ1):c.1845G>T (p.Gln615His)
|
|
|
NM_000218.3(KCNQ1):c.1849C>T (p.Leu617Phe)
|
|
|
NM_000218.3(KCNQ1):c.1854C>T (p.Ser618=)
|
|
|
NM_000218.3(KCNQ1):c.1857G>A (p.Leu619=)
|
|
|
NM_000218.3(KCNQ1):c.1867A>G (p.Ser623Gly)
|
|
|
NM_000218.3(KCNQ1):c.186G>C (p.Ala62=)
|
|
|
NM_000218.3(KCNQ1):c.1870A>G (p.Thr624Ala)
|
rs1590130223
|
|
NM_000218.3(KCNQ1):c.1871C>T (p.Thr624Ile)
|
|
|
NM_000218.3(KCNQ1):c.1872C>T (p.Thr624=)
|
|
|
NM_000218.3(KCNQ1):c.1875C>G (p.Pro625=)
|
rs112113213
|
|
NM_000218.3(KCNQ1):c.1875C>T (p.Pro625=)
|
rs112113213
|
|
NM_000218.3(KCNQ1):c.1875dup (p.Gly626fs)
|
rs2134097007
|
|
NM_000218.3(KCNQ1):c.1876G>C (p.Gly626Arg)
|
|
|
NM_000218.3(KCNQ1):c.1877G>T (p.Gly626Val)
|
|
|
NM_000218.3(KCNQ1):c.1884C>G (p.Gly628=)
|
rs769848998
|
|
NM_000218.3(KCNQ1):c.1886G>T (p.Gly629Val)
|
rs1848364650
|
|
NM_000218.3(KCNQ1):c.1887C>T (p.Gly629=)
|
rs749068909
|
|
NM_000218.3(KCNQ1):c.1888C>A (p.Pro630Thr)
|
|
|
NM_000218.3(KCNQ1):c.1888C>G (p.Pro630Ala)
|
rs199472822
|
|
NM_000218.3(KCNQ1):c.1892_1911del (p.Pro631fs)
|
rs397508103
|
|
NM_000218.3(KCNQ1):c.1893C>A (p.Pro631=)
|
|
|
NM_000218.3(KCNQ1):c.1893del (p.Arg632fs)
|
rs397508104
|
|
NM_000218.3(KCNQ1):c.1893dup (p.Arg632fs)
|
rs397508104
|
|
NM_000218.3(KCNQ1):c.1894dup (p.Arg632fs)
|
rs397508105
|
|
NM_000218.3(KCNQ1):c.1906dup (p.Ala636fs)
|
rs1464992494
|
|
NM_000218.3(KCNQ1):c.190C>T (p.Pro64Ser)
|
rs1554958062
|
|
NM_000218.3(KCNQ1):c.190_210del (p.Pro64_Pro70del)
|
rs1233039294
|
|
NM_000218.3(KCNQ1):c.1911C>T (p.His637=)
|
rs2134097230
|
|
NM_000218.3(KCNQ1):c.1923C>T (p.Pro641=)
|
|
|
NM_000218.3(KCNQ1):c.1924T>C (p.Cys642Arg)
|
rs1410404016
|
|
NM_000218.3(KCNQ1):c.192_200dup (p.Ser66_Ala68dup)
|
rs750499842
|
|
NM_000218.3(KCNQ1):c.1936G>T (p.Gly646Cys)
|
rs763478809
|
|
NM_000218.3(KCNQ1):c.1938C>A (p.Gly646=)
|
rs184844767
|
|
NM_000218.3(KCNQ1):c.1947C>A (p.Asp649Glu)
|
|
|
NM_000218.3(KCNQ1):c.1949del (p.Pro650fs)
|
rs2134097372
|
|
NM_000218.3(KCNQ1):c.194C>T (p.Ala65Val)
|
|
|
NM_000218.3(KCNQ1):c.1952A>C (p.Glu651Ala)
|
|
|
NM_000218.3(KCNQ1):c.1956C>T (p.Leu652=)
|
|
|
NM_000218.3(KCNQ1):c.1960C>T (p.Leu654=)
|
rs1848368654
|
|
NM_000218.3(KCNQ1):c.1962G>C (p.Leu654=)
|
|
|
NM_000218.3(KCNQ1):c.1970A>G (p.Asn657Ser)
|
rs552087428
|
|
NM_000218.3(KCNQ1):c.1975C>T (p.Leu659=)
|
rs2134097500
|
|
NM_000218.3(KCNQ1):c.1977G>T (p.Leu659=)
|
rs2134097506
|
|
NM_000218.3(KCNQ1):c.197C>G (p.Ser66Cys)
|
|
|
NM_000218.3(KCNQ1):c.197C>T (p.Ser66Phe)
|
rs199473446
|
|
NM_000218.3(KCNQ1):c.197_198delinsTA (p.Ser66Leu)
|
rs2133559832
|
|
NM_000218.3(KCNQ1):c.1986C>G (p.Tyr662Ter)
|
rs11601907
|
|
NM_000218.3(KCNQ1):c.1986C>T (p.Tyr662=)
|
rs11601907
|
|
NM_000218.3(KCNQ1):c.1987G>A (p.Glu663Lys)
|
|
|
NM_000218.3(KCNQ1):c.1989G>A (p.Glu663=)
|
|
|
NM_000218.3(KCNQ1):c.1995G>T (p.Leu665=)
|
rs2134097569
|
|
NM_000218.3(KCNQ1):c.1998C>G (p.Thr666=)
|
rs775497150
|
|
NM_000218.3(KCNQ1):c.1A>T (p.Met1Leu)
|
rs199473441
|
|
NM_000218.3(KCNQ1):c.200C>G (p.Pro67Arg)
|
|
|
NM_000218.3(KCNQ1):c.200_210del (p.Pro67fs)
|
rs1435990592
|
|
NM_000218.3(KCNQ1):c.200del (p.Pro67fs)
|
rs1060500623
|
|
NM_000218.3(KCNQ1):c.2012G>A (p.Gly671Asp)
|
|
|
NM_000218.3(KCNQ1):c.2013_*7del (p.Pro672fs)
|
rs2134097591
|
|
NM_000218.3(KCNQ1):c.2013_*7dup (p.Arg669_Ter677=)
|
rs2134097591
|
|
NM_000218.3(KCNQ1):c.2014C>G (p.Pro672Ala)
|
|
|
NM_000218.3(KCNQ1):c.2021A>G (p.Glu674Gly)
|
|
|
NM_000218.3(KCNQ1):c.2021A>T (p.Glu674Val)
|
|
|
NM_000218.3(KCNQ1):c.2022G>A (p.Glu674=)
|
|
|
NM_000218.3(KCNQ1):c.2025dup (p.Ser676fs)
|
rs397508106
|
|
NM_000218.3(KCNQ1):c.202GCCGCGCCC[1] (p.68AAP[1])
|
rs397508107
|
|
NM_000218.3(KCNQ1):c.202GCCGCGCCC[3] (p.68AAP[3])
|
rs397508107
|
|
NM_000218.3(KCNQ1):c.2030G>A (p.Ter677=)
|
|
|
NM_000218.3(KCNQ1):c.207G>A (p.Ala69=)
|
rs587781009
|
|
NM_000218.3(KCNQ1):c.207G>T (p.Ala69=)
|
rs587781009
|
|
NM_000218.3(KCNQ1):c.210C>T (p.Pro70=)
|
|
|
NM_000218.3(KCNQ1):c.213C>A (p.Ala71=)
|
|
|
NM_000218.3(KCNQ1):c.214G>C (p.Ala72Pro)
|
|
|
NM_000218.3(KCNQ1):c.21G>A (p.Pro7=)
|
|
|
NM_000218.3(KCNQ1):c.21G>C (p.Pro7=)
|
|
|
NM_000218.3(KCNQ1):c.225T>G (p.Val75=)
|
rs367817352
|
|
NM_000218.3(KCNQ1):c.228C>T (p.Ala76=)
|
|
|
NM_000218.3(KCNQ1):c.235C>T (p.Leu79Phe)
|
|
|
NM_000218.3(KCNQ1):c.239G>C (p.Gly80Ala)
|
rs1846021110
|
|
NM_000218.3(KCNQ1):c.240C>T (p.Gly80=)
|
|
|
NM_000218.3(KCNQ1):c.247C>T (p.Pro83Ser)
|
rs772821418
|
|
NM_000218.3(KCNQ1):c.249G>T (p.Pro83=)
|
rs760371519
|
|
NM_000218.3(KCNQ1):c.250C>T (p.Pro84Ser)
|
rs1846021360
|
|
NM_000218.3(KCNQ1):c.251C>G (p.Pro84Arg)
|
rs794728551
|
|
NM_000218.3(KCNQ1):c.265C>A (p.Pro89Thr)
|
|
|
NM_000218.3(KCNQ1):c.268C>T (p.Arg90Cys)
|
|
|
NM_000218.3(KCNQ1):c.282C>T (p.Tyr94=)
|
rs750648908
|
|
NM_000218.3(KCNQ1):c.285C>A (p.Ser95Arg)
|
rs1589884451
|
|
NM_000218.3(KCNQ1):c.288G>T (p.Thr96=)
|
|
|
NM_000218.3(KCNQ1):c.28G>A (p.Ala10Thr)
|
|
|
NM_000218.3(KCNQ1):c.294C>A (p.Arg98=)
|
|
|
NM_000218.3(KCNQ1):c.294C>T (p.Arg98=)
|
|
|
NM_000218.3(KCNQ1):c.296C>A (p.Pro99Gln)
|
rs370435862
|
|
NM_000218.3(KCNQ1):c.296C>G (p.Pro99Arg)
|
rs370435862
|
|
NM_000218.3(KCNQ1):c.296C>T (p.Pro99Leu)
|
|
|
NM_000218.3(KCNQ1):c.302T>A (p.Leu101Ter)
|
rs2133560140
|
|
NM_000218.3(KCNQ1):c.306G>A (p.Ala102=)
|
rs761591068
|
|
NM_000218.3(KCNQ1):c.312C>T (p.Thr104=)
|
|
|
NM_000218.3(KCNQ1):c.317T>A (p.Val106Asp)
|
rs1565023268
|
|
NM_000218.3(KCNQ1):c.31G>A (p.Glu11Lys)
|
rs959449103
|
|
NM_000218.3(KCNQ1):c.329_330delinsAG (p.Val110Glu)
|
rs1846023075
|
|
NM_000218.3(KCNQ1):c.32A>G (p.Glu11Gly)
|
|
|
NM_000218.3(KCNQ1):c.332A>C (p.Tyr111Ser)
|
|
|
NM_000218.3(KCNQ1):c.339C>T (p.Phe113=)
|
rs1283105113
|
|
NM_000218.3(KCNQ1):c.341T>C (p.Leu114Pro)
|
rs199473448
|
|
NM_000218.3(KCNQ1):c.342C>A (p.Leu114=)
|
rs1442231737
|
|
NM_000218.3(KCNQ1):c.344A>G (p.Glu115Gly)
|
rs199472679
|
|
NM_000218.3(KCNQ1):c.348T>C (p.Arg116=)
|
rs1846023501
|
|
NM_000218.3(KCNQ1):c.349C>A (p.Pro117Thr)
|
rs886037906
|
|
NM_000218.3(KCNQ1):c.350C>T (p.Pro117Leu)
|
rs120074191
|
|
NM_000218.3(KCNQ1):c.352A>C (p.Thr118Pro)
|
|
|
NM_000218.3(KCNQ1):c.354C>A (p.Thr118=)
|
|
|
NM_000218.3(KCNQ1):c.354C>T (p.Thr118=)
|
|
|
NM_000218.3(KCNQ1):c.355G>A (p.Gly119Ser)
|
|
|
NM_000218.3(KCNQ1):c.355G>C (p.Gly119Arg)
|
rs1325525794
|
|
NM_000218.3(KCNQ1):c.356G>T (p.Gly119Val)
|
rs199472680
|
|
NM_000218.3(KCNQ1):c.357C>T (p.Gly119=)
|
rs8178998
|
|
NM_000218.3(KCNQ1):c.359G>A (p.Trp120Ter)
|
rs2133560305
|
|
NM_000218.3(KCNQ1):c.361_370del (p.Lys121fs)
|
rs2133560315
|
|
NM_000218.3(KCNQ1):c.364dup (p.Cys122fs)
|
rs397508109
|
|
NM_000218.3(KCNQ1):c.365G>A (p.Cys122Tyr)
|
rs199472681
|
|
NM_000218.3(KCNQ1):c.36G>A (p.Arg12=)
|
|
|
NM_000218.3(KCNQ1):c.370G>T (p.Val124Phe)
|
|
|
NM_000218.3(KCNQ1):c.377A>T (p.His126Leu)
|
rs794728579
|
|
NM_000218.3(KCNQ1):c.381C>T (p.Phe127=)
|
|
|
NM_000218.3(KCNQ1):c.382G>A (p.Ala128Thr)
|
|
|
NM_000218.3(KCNQ1):c.382G>C (p.Ala128Pro)
|
rs2133560384
|
|
NM_000218.3(KCNQ1):c.382_383dup (p.Val129fs)
|
rs1554958132
|
|
NM_000218.3(KCNQ1):c.385del (p.Val129fs)
|
rs2133560394
|
|
NM_000218.3(KCNQ1):c.386+13A>G
|
|
|
NM_000218.3(KCNQ1):c.386+15C>A
|
|
|
NM_000218.3(KCNQ1):c.386+18C>A
|
|
|
NM_000218.3(KCNQ1):c.386+19G>A
|
|
|
NM_000218.3(KCNQ1):c.386+1G>T
|
rs2133560406
|
|
NM_000218.3(KCNQ1):c.386+2T>G
|
|
|
NM_000218.3(KCNQ1):c.386+8T>G
|
|
|
NM_000218.3(KCNQ1):c.386T>C (p.Val129Ala)
|
rs1846024488
|
|
NM_000218.3(KCNQ1):c.387-12C>G
|
|
|
NM_000218.3(KCNQ1):c.387-15G>A
|
rs1023819811
|
|
NM_000218.3(KCNQ1):c.387-20G>C
|
|
|
NM_000218.3(KCNQ1):c.387-5T>A
|
rs794728549
|
|
NM_000218.3(KCNQ1):c.392T>C (p.Leu131Pro)
|
rs794728550
|
|
NM_000218.3(KCNQ1):c.396C>T (p.Ile132=)
|
rs1400426641
|
|
NM_000218.3(KCNQ1):c.397G>A (p.Val133Ile)
|
rs199473449
|
|
NM_000218.3(KCNQ1):c.401T>C (p.Leu134Pro)
|
rs199472685
|
|
NM_000218.3(KCNQ1):c.402G>C (p.Leu134=)
|
|
|
NM_000218.3(KCNQ1):c.403del (p.Val135fs)
|
rs794728565
|
|
NM_000218.3(KCNQ1):c.408C>T (p.Cys136=)
|
rs1334675056
|
|
NM_000218.3(KCNQ1):c.409C>T (p.Leu137Phe)
|
rs199473450
|
|
NM_000218.3(KCNQ1):c.421G>A (p.Val141Met)
|
rs199472687
|
|
NM_000218.3(KCNQ1):c.426G>A (p.Leu142=)
|
|
|
NM_000218.3(KCNQ1):c.428C>T (p.Ser143Phe)
|
rs786204083
|
|
NM_000218.3(KCNQ1):c.430A>G (p.Thr144Ala)
|
rs199473451
|
|
NM_000218.3(KCNQ1):c.436G>A (p.Glu146Lys)
|
rs199472688
|
|
NM_000218.3(KCNQ1):c.443del (p.Tyr148fs)
|
rs878854347
|
|
NM_000218.3(KCNQ1):c.451_452del (p.Leu151fs)
|
rs397508110
|
|
NM_000218.3(KCNQ1):c.45G>T (p.Trp15Cys)
|
rs2133559405
|
|
NM_000218.3(KCNQ1):c.468C>T (p.Leu156=)
|
|
|
NM_000218.3(KCNQ1):c.468_469del (p.Phe157fs)
|
rs1064795333
|
|
NM_000218.3(KCNQ1):c.470T>G (p.Phe157Cys)
|
rs199472690
|
|
NM_000218.3(KCNQ1):c.474G>C (p.Trp158Cys)
|
|
|
NM_000218.3(KCNQ1):c.477+16G>C
|
|
|
NM_000218.3(KCNQ1):c.477+1G>C
|
|
|
NM_000218.3(KCNQ1):c.477+2T>C
|
rs2133650175
|
|
NM_000218.3(KCNQ1):c.478-12C>G
|
|
|
NM_000218.3(KCNQ1):c.478-19T>C
|
|
|
NM_000218.3(KCNQ1):c.478-8C>A
|
|
|
NM_000218.3(KCNQ1):c.478G>A (p.Glu160Lys)
|
rs199473453
|
|
NM_000218.3(KCNQ1):c.47_48del (p.Gly16fs)
|
|
|
NM_000218.3(KCNQ1):c.483C>A (p.Ile161=)
|
rs146981549
|
|
NM_000218.3(KCNQ1):c.483C>T (p.Ile161=)
|
rs146981549
|
|
NM_000218.3(KCNQ1):c.488del (p.Leu163fs)
|
rs397508112
|
|
NM_000218.3(KCNQ1):c.490GTG[3] (p.Val165_Phe166insVal)
|
rs1554892886
|
|
NM_000218.3(KCNQ1):c.491T>C (p.Val164Ala)
|
rs1848316801
|
|
NM_000218.3(KCNQ1):c.492G>A (p.Val164=)
|
|
|
NM_000218.3(KCNQ1):c.494T>C (p.Val165Ala)
|
rs1848317004
|
|
NM_000218.3(KCNQ1):c.495G>A (p.Val165=)
|
|
|
NM_000218.3(KCNQ1):c.495_497del (p.Phe167del)
|
rs1589956533
|
|
NM_000218.3(KCNQ1):c.496T>G (p.Phe166Val)
|
rs768419064
|
|
NM_000218.3(KCNQ1):c.502G>C (p.Gly168Arg)
|
rs179489
|
|
NM_000218.3(KCNQ1):c.503G>A (p.Gly168Glu)
|
|
|
NM_000218.3(KCNQ1):c.504del (p.Thr169fs)
|
rs397508114
|
|
NM_000218.3(KCNQ1):c.509A>G (p.Glu170Gly)
|
|
|
NM_000218.3(KCNQ1):c.511T>C (p.Tyr171His)
|
rs1848317948
|
|
NM_000218.3(KCNQ1):c.513C>A (p.Tyr171Ter)
|
rs139042529
|
|
NM_000218.3(KCNQ1):c.513C>G (p.Tyr171Ter)
|
rs139042529
|
|
NM_000218.3(KCNQ1):c.513C>T (p.Tyr171=)
|
rs139042529
|
|
NM_000218.3(KCNQ1):c.514G>C (p.Val172Leu)
|
rs199472694
|
|
NM_000218.3(KCNQ1):c.51G>A (p.Trp17Ter)
|
rs1589884185
|
|
NM_000218.3(KCNQ1):c.521G>T (p.Arg174Leu)
|
rs199472697
|
|
NM_000218.3(KCNQ1):c.524T>C (p.Leu175Pro)
|
rs1589956588
|
|
NM_000218.3(KCNQ1):c.524_534del (p.Leu175fs)
|
rs763462603
|
|
NM_000218.3(KCNQ1):c.526T>C (p.Trp176Arg)
|
rs1554892900
|
|
NM_000218.3(KCNQ1):c.527G>C (p.Trp176Ser)
|
|
|
NM_000218.3(KCNQ1):c.531C>G (p.Ser177=)
|
rs757713526
|
|
NM_000218.3(KCNQ1):c.531C>T (p.Ser177=)
|
rs757713526
|
|
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr)
|
rs120074177
|
|
NM_000218.3(KCNQ1):c.534C>T (p.Ala178=)
|
rs1848319199
|
|
NM_000218.3(KCNQ1):c.550T>C (p.Tyr184His)
|
rs199473661
|
|
NM_000218.3(KCNQ1):c.551dup (p.Tyr184Ter)
|
rs794728547
|
|
NM_000218.3(KCNQ1):c.553G>C (p.Val185Leu)
|
rs749351255
|
|
NM_000218.3(KCNQ1):c.554_575del (p.Val185fs)
|
|
|
NM_000218.3(KCNQ1):c.556G>C (p.Gly186Arg)
|
rs199473398
|
|
NM_000218.3(KCNQ1):c.557G>A (p.Gly186Asp)
|
rs794728568
|
|
NM_000218.3(KCNQ1):c.560T>G (p.Leu187Arg)
|
rs199473399
|
|
NM_000218.3(KCNQ1):c.562T>C (p.Trp188Arg)
|
|
|
NM_000218.3(KCNQ1):c.563G>C (p.Trp188Ser)
|
rs1240024663
|
|
NM_000218.3(KCNQ1):c.564G>A (p.Trp188Ter)
|
rs530612385
|
|
NM_000218.3(KCNQ1):c.565G>A (p.Gly189Arg)
|
rs104894252
|
|
NM_000218.3(KCNQ1):c.566_567del (p.Gly189fs)
|
rs397508117
|
|
NM_000218.3(KCNQ1):c.567G>A (p.Gly189=)
|
|
|
NM_000218.3(KCNQ1):c.567dup (p.Arg190fs)
|
rs397508117
|
|
NM_000218.3(KCNQ1):c.568C>T (p.Arg190Trp)
|
rs199473662
|
|
NM_000218.3(KCNQ1):c.569G>C (p.Arg190Pro)
|
rs120074178
|
|
NM_000218.3(KCNQ1):c.569G>T (p.Arg190Leu)
|
rs120074178
|
|
NM_000218.3(KCNQ1):c.573G>A (p.Leu191=)
|
|
|
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs)
|
rs397508118
|
|
NM_000218.3(KCNQ1):c.575G>C (p.Arg192Pro)
|
rs199472698
|
|
NM_000218.3(KCNQ1):c.575G>T (p.Arg192Leu)
|
rs199472698
|
|
NM_000218.3(KCNQ1):c.580G>C (p.Ala194Pro)
|
rs199472699
|
|
NM_000218.3(KCNQ1):c.581C>T (p.Ala194Val)
|
rs2133727494
|
|
NM_000218.3(KCNQ1):c.583C>G (p.Arg195Gly)
|
|
|
NM_000218.3(KCNQ1):c.585del (p.Lys196fs)
|
rs397508120
|
|
NM_000218.3(KCNQ1):c.587A>C (p.Lys196Thr)
|
rs794728509
|
|
NM_000218.3(KCNQ1):c.587dup (p.Pro197fs)
|
|
|
NM_000218.3(KCNQ1):c.588G>A (p.Lys196=)
|
|
|
NM_000218.3(KCNQ1):c.590C>A (p.Pro197His)
|
rs200108320
|
|
NM_000218.3(KCNQ1):c.599T>A (p.Ile200Asn)
|
rs2133727600
|
|
NM_000218.3(KCNQ1):c.603_604+9del
|
rs794728580
|
|
NM_000218.3(KCNQ1):c.604+3_604+6dup
|
rs1848322064
|
|
NM_000218.3(KCNQ1):c.604+7C>T
|
|
|
NM_000218.3(KCNQ1):c.605-18C>A
|
rs192254843
|
|
NM_000218.3(KCNQ1):c.605-18C>G
|
rs192254843
|
|
NM_000218.3(KCNQ1):c.605-18C>T
|
|
|
NM_000218.3(KCNQ1):c.605-1G>A
|
rs1564820372
|
|
NM_000218.3(KCNQ1):c.605-1G>C
|
rs1564820372
|
|
NM_000218.3(KCNQ1):c.605-2A>G
|
rs2133728692
|
|
NM_000218.3(KCNQ1):c.605A>T (p.Asp202Val)
|
rs794728569
|
|
NM_000218.3(KCNQ1):c.606C>T (p.Asp202=)
|
|
|
NM_000218.3(KCNQ1):c.609C>T (p.Leu203=)
|
rs1060503983
|
|
NM_000218.3(KCNQ1):c.612C>G (p.Ile204Met)
|
rs199473455
|
|
NM_000218.3(KCNQ1):c.615G>A (p.Val205=)
|
|
|
NM_000218.3(KCNQ1):c.624C>T (p.Ala208=)
|
rs1057524320
|
|
NM_000218.3(KCNQ1):c.625T>C (p.Ser209Pro)
|
rs199472705
|
|
NM_000218.3(KCNQ1):c.626_627insA (p.Met210fs)
|
|
|
NM_000218.3(KCNQ1):c.630G>A (p.Met210Ile)
|
rs776811872
|
|
NM_000218.3(KCNQ1):c.636C>G (p.Val212=)
|
|
|
NM_000218.3(KCNQ1):c.636C>T (p.Val212=)
|
|
|
NM_000218.3(KCNQ1):c.642C>A (p.Cys214Ter)
|
rs775479779
|
|
NM_000218.3(KCNQ1):c.642C>G (p.Cys214Trp)
|
rs775479779
|
|
NM_000218.3(KCNQ1):c.648C>A (p.Gly216=)
|
rs146350010
|
|
NM_000218.3(KCNQ1):c.64G>T (p.Gly22Cys)
|
|
|
NM_000218.3(KCNQ1):c.652A>G (p.Lys218Glu)
|
rs36210419
|
|
NM_000218.3(KCNQ1):c.653A>G (p.Lys218Arg)
|
rs1848331549
|
|
NM_000218.3(KCNQ1):c.656G>A (p.Gly219Glu)
|
|
|
NM_000218.3(KCNQ1):c.657G>A (p.Gly219=)
|
|
|
NM_000218.3(KCNQ1):c.661G>A (p.Val221Met)
|
|
|
NM_000218.3(KCNQ1):c.663G>A (p.Val221=)
|
rs779859587
|
|
NM_000218.3(KCNQ1):c.666T>C (p.Phe222=)
|
|
|
NM_000218.3(KCNQ1):c.666del (p.Phe222fs)
|
|
|
NM_000218.3(KCNQ1):c.667G>A (p.Ala223Thr)
|
|
|
NM_000218.3(KCNQ1):c.669C>T (p.Ala223=)
|
rs371978875
|
|
NM_000218.3(KCNQ1):c.66C>A (p.Gly22=)
|
|
|
NM_000218.3(KCNQ1):c.674C>G (p.Ser225Trp)
|
rs199473456
|
|
NM_000218.3(KCNQ1):c.675G>C (p.Ser225=)
|
rs148566141
|
|
NM_000218.3(KCNQ1):c.677C>T (p.Ala226Val)
|
rs199472707
|
|
NM_000218.3(KCNQ1):c.678C>T (p.Ala226=)
|
rs771489129
|
|
NM_000218.3(KCNQ1):c.679A>G (p.Ile227Val)
|
rs794728511
|
|
NM_000218.3(KCNQ1):c.682A>T (p.Arg228Trp)
|
|
|
NM_000218.3(KCNQ1):c.683+10T>C
|
rs2133729063
|
|
NM_000218.3(KCNQ1):c.683+12C>A
|
|
|
NM_000218.3(KCNQ1):c.683+1G>A
|
rs1589957233
|
|
NM_000218.3(KCNQ1):c.683+4C>T
|
rs554698776
|
|
NM_000218.3(KCNQ1):c.683+5G>C
|
rs397508122
|
|
NM_000218.3(KCNQ1):c.683+7C>G
|
rs2133729047
|
|
NM_000218.3(KCNQ1):c.684-12T>A
|
|
|
NM_000218.3(KCNQ1):c.684-2A>C
|
rs1564820729
|
|
NM_000218.3(KCNQ1):c.684-4G>A
|
rs750965939
|
|
NM_000218.3(KCNQ1):c.684-4G>T
|
rs750965939
|
|
NM_000218.3(KCNQ1):c.686G>A (p.Gly229Asp)
|
rs199472708
|
|
NM_000218.3(KCNQ1):c.686G>T (p.Gly229Val)
|
rs199472708
|
|
NM_000218.3(KCNQ1):c.687C>T (p.Gly229=)
|
|
|
NM_000218.3(KCNQ1):c.68C>T (p.Ala23Val)
|
|
|
NM_000218.3(KCNQ1):c.692_693dup (p.Phe232fs)
|
rs1589957697
|
|
NM_000218.3(KCNQ1):c.700C>T (p.Gln234Ter)
|
rs2133730365
|
|
NM_000218.3(KCNQ1):c.701A>G (p.Gln234Arg)
|
rs794728570
|
|
NM_000218.3(KCNQ1):c.701A>T (p.Gln234Leu)
|
rs794728570
|
|
NM_000218.3(KCNQ1):c.704T>A (p.Ile235Asn)
|
rs199472710
|
|
NM_000218.3(KCNQ1):c.706del (p.Ile235_Leu236insTer)
|
rs1589957719
|
|
NM_000218.3(KCNQ1):c.707T>C (p.Leu236Pro)
|
rs794728512
|
|
NM_000218.3(KCNQ1):c.720C>A (p.His240Gln)
|
|
|
NM_000218.3(KCNQ1):c.721G>T (p.Val241Phe)
|
rs199956744
|
|
NM_000218.3(KCNQ1):c.721_726del (p.Val241_Asp242del)
|
|
|
NM_000218.3(KCNQ1):c.723C>T (p.Val241=)
|
rs1358413257
|
|
NM_000218.3(KCNQ1):c.724G>A (p.Asp242Asn)
|
rs199472712
|
|
NM_000218.3(KCNQ1):c.724G>T (p.Asp242Tyr)
|
rs199472712
|
|
NM_000218.3(KCNQ1):c.726C>A (p.Asp242Glu)
|
rs1589957756
|
|
NM_000218.3(KCNQ1):c.727C>A (p.Arg243Ser)
|
rs199472713
|
|
NM_000218.3(KCNQ1):c.728G>T (p.Arg243Leu)
|
|
|
NM_000218.3(KCNQ1):c.730C>T (p.Gln244Ter)
|
rs1554893091
|
|
NM_000218.3(KCNQ1):c.733G>A (p.Gly245Arg)
|
rs1060500628
|
|
NM_000218.3(KCNQ1):c.733G>T (p.Gly245Ter)
|
rs1060500628
|
|
NM_000218.3(KCNQ1):c.739_748del (p.Thr247fs)
|
rs1564820786
|
|
NM_000218.3(KCNQ1):c.742T>C (p.Trp248Arg)
|
rs199473459
|
|
NM_000218.3(KCNQ1):c.743G>A (p.Trp248Ter)
|
rs1848344878
|
|
NM_000218.3(KCNQ1):c.745_746dup (p.Leu250fs)
|
rs1221462654
|
|
NM_000218.3(KCNQ1):c.745_754del (p.Arg249fs)
|
rs1060500626
|
|
NM_000218.3(KCNQ1):c.749T>C (p.Leu250Pro)
|
rs199472715
|
|
NM_000218.3(KCNQ1):c.74G>C (p.Arg25Pro)
|
rs1589884210
|
|
NM_000218.3(KCNQ1):c.752T>A (p.Leu251Gln)
|
rs199472716
|
|
NM_000218.3(KCNQ1):c.752T>C (p.Leu251Pro)
|
rs199472716
|
|
NM_000218.3(KCNQ1):c.756C>T (p.Gly252=)
|
|
|
NM_000218.3(KCNQ1):c.757T>C (p.Ser253Pro)
|
rs764781840
|
|
NM_000218.3(KCNQ1):c.760G>A (p.Val254Met)
|
rs120074179
|
|
NM_000218.3(KCNQ1):c.770T>G (p.Ile257Ser)
|
rs2133730726
|
|
NM_000218.3(KCNQ1):c.770_773del (p.Ile257fs)
|
rs2133730716
|
|
NM_000218.3(KCNQ1):c.771_775dup (p.Arg259fs)
|
rs2133730742
|
|
NM_000218.3(KCNQ1):c.773A>C (p.His258Pro)
|
rs199472718
|
|
NM_000218.3(KCNQ1):c.774C>T (p.His258=)
|
rs1848345991
|
|
NM_000218.3(KCNQ1):c.775C>G (p.Arg259Gly)
|
|
|
NM_000218.3(KCNQ1):c.775C>T (p.Arg259Cys)
|
rs199472719
|
|
NM_000218.3(KCNQ1):c.776G>T (p.Arg259Leu)
|
rs199472720
|
|
NM_000218.3(KCNQ1):c.778C>T (p.Gln260Ter)
|
rs1848346228
|
|
NM_000218.3(KCNQ1):c.780+11C>G
|
|
|
NM_000218.3(KCNQ1):c.780+13G>A
|
|
|
NM_000218.3(KCNQ1):c.780+15T>C
|
|
|
NM_000218.3(KCNQ1):c.780+1G>A
|
rs1564820836
|
|
NM_000218.3(KCNQ1):c.781-19TG[2]
|
rs727503103
|
|
NM_000218.3(KCNQ1):c.781G>A (p.Glu261Lys)
|
rs199472722
|
|
NM_000218.3(KCNQ1):c.781_782delinsTT (p.Glu261Leu)
|
rs1060500621
|
|
NM_000218.3(KCNQ1):c.783G>C (p.Glu261Asp)
|
rs199472721
|
|
NM_000218.3(KCNQ1):c.785T>C (p.Leu262Pro)
|
rs1564821090
|
|
NM_000218.3(KCNQ1):c.785T>G (p.Leu262Arg)
|
rs1564821090
|
|
NM_000218.3(KCNQ1):c.787A>G (p.Ile263Val)
|
|
|
NM_000218.3(KCNQ1):c.790_791del (p.Thr264fs)
|
|
|
NM_000218.3(KCNQ1):c.791C>G (p.Thr264Ser)
|
rs566907093
|
|
NM_000218.3(KCNQ1):c.794C>A (p.Thr265Asn)
|
rs199472724
|
|
NM_000218.3(KCNQ1):c.796del (p.Leu266fs)
|
rs397508125
|
|
NM_000218.3(KCNQ1):c.797T>C (p.Leu266Pro)
|
rs199473460
|
|
NM_000218.3(KCNQ1):c.797T>G (p.Leu266Arg)
|
rs199473460
|
|
NM_000218.3(KCNQ1):c.7G>C (p.Ala3Pro)
|
|
|
NM_000218.3(KCNQ1):c.800A>T (p.Tyr267Phe)
|
rs886039033
|
|
NM_000218.3(KCNQ1):c.803T>G (p.Ile268Ser)
|
rs199472725
|
|
NM_000218.3(KCNQ1):c.804C>A (p.Ile268=)
|
rs373227792
|
|
NM_000218.3(KCNQ1):c.805G>A (p.Gly269Ser)
|
rs120074193
|
|
NM_000218.3(KCNQ1):c.813_818del (p.Gly272_Leu273del)
|
rs1848360153
|
|
NM_000218.3(KCNQ1):c.817C>G (p.Leu273Val)
|
|
|
NM_000218.3(KCNQ1):c.817C>T (p.Leu273Phe)
|
rs120074180
|
|
NM_000218.3(KCNQ1):c.818T>C (p.Leu273Pro)
|
rs199472727
|
|
NM_000218.3(KCNQ1):c.818T>G (p.Leu273Arg)
|
rs199472727
|
|
NM_000218.3(KCNQ1):c.821TCT[1] (p.Phe275del)
|
rs397508126
|
|
NM_000218.3(KCNQ1):c.825CTC[1] (p.Ser277del)
|
rs397508127
|
|
NM_000218.3(KCNQ1):c.830C>G (p.Ser277Trp)
|
rs199472730
|
|
NM_000218.3(KCNQ1):c.831G>A (p.Ser277=)
|
rs761225039
|
|
NM_000218.3(KCNQ1):c.834C>G (p.Tyr278Ter)
|
rs1554893228
|
|
NM_000218.3(KCNQ1):c.836T>G (p.Phe279Cys)
|
rs1589958473
|
|
NM_000218.3(KCNQ1):c.837dup (p.Val280fs)
|
rs2133732704
|
|
NM_000218.3(KCNQ1):c.839T>A (p.Val280Glu)
|
rs199473462
|
|
NM_000218.3(KCNQ1):c.839T>C (p.Val280Ala)
|
|
|
NM_000218.3(KCNQ1):c.83C>G (p.Ala28Gly)
|
rs767089696
|
|
NM_000218.3(KCNQ1):c.840G>T (p.Val280=)
|
rs1554893236
|
|
NM_000218.3(KCNQ1):c.845T>C (p.Leu282Pro)
|
rs199472733
|
|
NM_000218.3(KCNQ1):c.847G>C (p.Ala283Pro)
|
rs1060500627
|
|
NM_000218.3(KCNQ1):c.848C>G (p.Ala283Gly)
|
rs199473463
|
|
NM_000218.3(KCNQ1):c.850G>A (p.Glu284Lys)
|
rs199472734
|
|
NM_000218.3(KCNQ1):c.850_852del (p.Glu284del)
|
rs1064796353
|
|
NM_000218.3(KCNQ1):c.851A>G (p.Glu284Gly)
|
rs1848362105
|
|
NM_000218.3(KCNQ1):c.855G>A (p.Lys285=)
|
rs776982883
|
|
NM_000218.3(KCNQ1):c.858C>A (p.Asp286Glu)
|
rs760047145
|
|
NM_000218.3(KCNQ1):c.859G>A (p.Ala287Thr)
|
rs765665086
|
|
NM_000218.3(KCNQ1):c.859G>T (p.Ala287Ser)
|
rs765665086
|
|
NM_000218.3(KCNQ1):c.85G>A (p.Gly29Ser)
|
|
|
NM_000218.3(KCNQ1):c.860C>T (p.Ala287Val)
|
rs199472735
|
|
NM_000218.3(KCNQ1):c.862_880del (p.Val288fs)
|
rs397508129
|
|
NM_000218.3(KCNQ1):c.864G>A (p.Val288=)
|
|
|
NM_000218.3(KCNQ1):c.865A>G (p.Asn289Asp)
|
|
|
NM_000218.3(KCNQ1):c.869A>G (p.Glu290Gly)
|
|
|
NM_000218.3(KCNQ1):c.879C>A (p.Arg293=)
|
rs181106858
|
|
NM_000218.3(KCNQ1):c.879C>T (p.Arg293=)
|
rs181106858
|
|
NM_000218.3(KCNQ1):c.887T>C (p.Phe296Ser)
|
rs199472738
|
|
NM_000218.3(KCNQ1):c.889G>C (p.Gly297Arg)
|
rs34320941
|
|
NM_000218.3(KCNQ1):c.891C>A (p.Gly297=)
|
|
|
NM_000218.3(KCNQ1):c.899C>A (p.Ala300Glu)
|
rs1001293702
|
|
NM_000218.3(KCNQ1):c.89T>C (p.Leu30Pro)
|
rs1846015467
|
|
NM_000218.3(KCNQ1):c.901G>T (p.Asp301Tyr)
|
|
|
NM_000218.3(KCNQ1):c.902A>T (p.Asp301Val)
|
rs1554893260
|
|
NM_000218.3(KCNQ1):c.905C>A (p.Ala302Glu)
|
rs193922365
|
|
NM_000218.3(KCNQ1):c.906G>A (p.Ala302=)
|
rs200762150
|
|
NM_000218.3(KCNQ1):c.906G>T (p.Ala302=)
|
rs200762150
|
|
NM_000218.3(KCNQ1):c.908T>C (p.Leu303Pro)
|
rs199472740
|
|
NM_000218.3(KCNQ1):c.910T>C (p.Trp304Arg)
|
rs199473466
|
|
NM_000218.3(KCNQ1):c.911G>T (p.Trp304Leu)
|
|
|
NM_000218.3(KCNQ1):c.913T>A (p.Trp305Arg)
|
|
|
NM_000218.3(KCNQ1):c.913_916dup (p.Gly306fs)
|
rs2133733054
|
|
NM_000218.3(KCNQ1):c.914G>C (p.Trp305Ser)
|
rs120074186
|
|
NM_000218.3(KCNQ1):c.914G>T (p.Trp305Leu)
|
rs120074186
|
|
NM_000218.3(KCNQ1):c.915G>C (p.Trp305Cys)
|
|
|
NM_000218.3(KCNQ1):c.917G>A (p.Gly306Glu)
|
rs199472742
|
|
NM_000218.3(KCNQ1):c.918G>A (p.Gly306=)
|
|
|
NM_000218.3(KCNQ1):c.919G>T (p.Val307Leu)
|
rs120074195
|
|
NM_000218.3(KCNQ1):c.919del (p.Val307fs)
|
rs2133733071
|
|
NM_000218.3(KCNQ1):c.920T>A (p.Val307Glu)
|
rs1589958619
|
|
NM_000218.3(KCNQ1):c.921+12A>G
|
rs1848365236
|
|
NM_000218.3(KCNQ1):c.921+15T>C
|
|
|
NM_000218.3(KCNQ1):c.921+1G>A
|
rs397508130
|
|
NM_000218.3(KCNQ1):c.921+1G>T
|
rs397508130
|
|
NM_000218.3(KCNQ1):c.921+4A>G
|
rs2133733137
|
|
NM_000218.3(KCNQ1):c.921+8G>A
|
|
|
NM_000218.3(KCNQ1):c.921+8_921+15dup
|
|
|
NM_000218.3(KCNQ1):c.922-12C>T
|
|
|
NM_000218.3(KCNQ1):c.922-1G>C
|
rs387906290
|
|
NM_000218.3(KCNQ1):c.922-20C>T
|
|
|
NM_000218.3(KCNQ1):c.922-2A>G
|
rs397508133
|
|
NM_000218.3(KCNQ1):c.922-3C>A
|
rs794728515
|
|
NM_000218.3(KCNQ1):c.922-7C>T
|
|
|
NM_000218.3(KCNQ1):c.926C>T (p.Thr309Ile)
|
rs199472743
|
|
NM_000218.3(KCNQ1):c.928G>A (p.Val310Ile)
|
rs199472745
|
|
NM_000218.3(KCNQ1):c.932C>T (p.Thr311Ile)
|
rs199472746
|
|
NM_000218.3(KCNQ1):c.932CCA[1] (p.Thr312del)
|
rs1564824264
|
|
NM_000218.3(KCNQ1):c.934_941dup (p.Tyr315fs)
|
rs2133750610
|
|
NM_000218.3(KCNQ1):c.935C>T (p.Thr312Ile)
|
rs120074182
|
|
NM_000218.3(KCNQ1):c.936C>T (p.Thr312=)
|
rs753939458
|
|
NM_000218.3(KCNQ1):c.937A>T (p.Ile313Phe)
|
rs1589965249
|
|
NM_000218.3(KCNQ1):c.940G>A (p.Gly314Ser)
|
rs120074184
|
|
NM_000218.3(KCNQ1):c.941G>A (p.Gly314Asp)
|
rs199472748
|
|
NM_000218.3(KCNQ1):c.943T>A (p.Tyr315Asn)
|
rs1554894448
|
|
NM_000218.3(KCNQ1):c.943T>C (p.Tyr315His)
|
rs1554894448
|
|
NM_000218.3(KCNQ1):c.944A>C (p.Tyr315Ser)
|
rs74462309
|
|
NM_000218.3(KCNQ1):c.944A>G (p.Tyr315Cys)
|
rs74462309
|
|
NM_000218.3(KCNQ1):c.946G>A (p.Gly316Arg)
|
rs104894255
|
|
NM_000218.3(KCNQ1):c.946G>T (p.Gly316Trp)
|
rs104894255
|
|
NM_000218.3(KCNQ1):c.947G>C (p.Gly316Ala)
|
|
|
NM_000218.3(KCNQ1):c.948G>A (p.Gly316=)
|
rs727505231
|
|
NM_000218.3(KCNQ1):c.949G>A (p.Asp317Asn)
|
rs199472751
|
|
NM_000218.3(KCNQ1):c.94A>T (p.Lys32Ter)
|
rs1554958043
|
|
NM_000218.3(KCNQ1):c.950A>C (p.Asp317Ala)
|
rs199472750
|
|
NM_000218.3(KCNQ1):c.950A>G (p.Asp317Gly)
|
rs199472750
|
|
NM_000218.3(KCNQ1):c.954G>A (p.Lys318=)
|
|
|
NM_000218.3(KCNQ1):c.955G>A (p.Val319Met)
|
rs1310931869
|
|
NM_000218.3(KCNQ1):c.957_958delinsTT (p.Pro320Ser)
|
|
|
NM_000218.3(KCNQ1):c.958C>T (p.Pro320Ser)
|
rs199472753
|
|
NM_000218.3(KCNQ1):c.959C>A (p.Pro320His)
|
rs199473470
|
|
NM_000218.3(KCNQ1):c.959C>G (p.Pro320Arg)
|
|
|
NM_000218.3(KCNQ1):c.959C>T (p.Pro320Leu)
|
rs199473470
|
|
NM_000218.3(KCNQ1):c.961C>T (p.Gln321Ter)
|
rs794728517
|
|
NM_000218.3(KCNQ1):c.962A>C (p.Gln321Pro)
|
rs794728518
|
|
NM_000218.3(KCNQ1):c.964A>C (p.Thr322Pro)
|
rs199472754
|
|
NM_000218.3(KCNQ1):c.964A>G (p.Thr322Ala)
|
rs199472754
|
|
NM_000218.3(KCNQ1):c.965C>G (p.Thr322Arg)
|
rs199472755
|
|
NM_000218.3(KCNQ1):c.965C>T (p.Thr322Met)
|
rs199472755
|
|
NM_000218.3(KCNQ1):c.970G>A (p.Val324Ile)
|
rs1848536066
|
|
NM_000218.3(KCNQ1):c.970G>T (p.Val324Phe)
|
rs1848536066
|
|
NM_000218.3(KCNQ1):c.972C>G (p.Val324=)
|
|
|
NM_000218.3(KCNQ1):c.973G>A (p.Gly325Arg)
|
rs199472756
|
|
NM_000218.3(KCNQ1):c.973G>C (p.Gly325Arg)
|
rs199472756
|
|
NM_000218.3(KCNQ1):c.973G>T (p.Gly325Trp)
|
rs199472756
|
|
NM_000218.3(KCNQ1):c.975G>A (p.Gly325=)
|
rs2133750801
|
|
NM_000218.3(KCNQ1):c.986C>T (p.Ala329Val)
|
rs200436951
|
|
NM_000218.3(KCNQ1):c.987C>T (p.Ala329=)
|
|
|
NM_000218.3(KCNQ1):c.992G>A (p.Cys331Tyr)
|
rs1848536656
|
|
NM_000218.3(KCNQ1):c.996C>T (p.Phe332=)
|
rs1554894464
|
|
NM_000218.3(KCNQ1):c.998_999del (p.Ser333fs)
|
rs397508134
|
|
NM_000218.3(KCNQ1):c.99G>A (p.Lys33=)
|
|
|
NM_000219.6(KCNE1):c.103C>T (p.Pro35Ser)
|
|
|
NM_000219.6(KCNE1):c.104C>T (p.Pro35Leu)
|
|
|
NM_000219.6(KCNE1):c.106C>G (p.Arg36Gly)
|
rs372398235
|
|
NM_000219.6(KCNE1):c.106C>T (p.Arg36Cys)
|
rs372398235
|
|
NM_000219.6(KCNE1):c.106dup (p.Arg36fs)
|
|
|
NM_000219.6(KCNE1):c.108_109delinsGG (p.Ser37Gly)
|
rs886044294
|
|
NM_000219.6(KCNE1):c.110G>A (p.Ser37Asn)
|
rs1290531137
|
|
NM_000219.6(KCNE1):c.110G>C (p.Ser37Thr)
|
rs1290531137
|
|
NM_000219.6(KCNE1):c.111_112inv (p.Ser38Gly)
|
|
|
NM_000219.6(KCNE1):c.112_113delinsGA (p.Ser38Asp)
|
rs1064795410
|
|
NM_000219.6(KCNE1):c.120C>T (p.Gly40=)
|
rs756778741
|
|
NM_000219.6(KCNE1):c.123G>C (p.Lys41Asn)
|
rs763754260
|
|
NM_000219.6(KCNE1):c.124C>T (p.Leu42=)
|
|
|
NM_000219.6(KCNE1):c.12dup (p.Asn5Ter)
|
rs1131691762
|
|
NM_000219.6(KCNE1):c.139G>C (p.Val47Leu)
|
|
|
NM_000219.6(KCNE1):c.142C>A (p.Leu48Ile)
|
rs75610894
|
|
NM_000219.6(KCNE1):c.143T>C (p.Leu48Pro)
|
rs1217080820
|
|
NM_000219.6(KCNE1):c.146T>C (p.Met49Thr)
|
|
|
NM_000219.6(KCNE1):c.147G>A (p.Met49Ile)
|
|
|
NM_000219.6(KCNE1):c.154G>A (p.Gly52Arg)
|
rs199473354
|
|
NM_000219.6(KCNE1):c.159C>A (p.Phe53Leu)
|
rs1981011440
|
|
NM_000219.6(KCNE1):c.166_180del (p.Phe56_Gly60del)
|
rs1568836457
|
|
NM_000219.6(KCNE1):c.172A>G (p.Thr58Ala)
|
rs147187721
|
|
NM_000219.6(KCNE1):c.175C>T (p.Leu59=)
|
rs754731040
|
|
NM_000219.6(KCNE1):c.179G>T (p.Gly60Val)
|
|
|
NM_000219.6(KCNE1):c.183C>T (p.Ile61=)
|
rs2123458313
|
|
NM_000219.6(KCNE1):c.189G>T (p.Leu63=)
|
rs1057521237
|
|
NM_000219.6(KCNE1):c.191G>T (p.Ser64Ile)
|
rs1382168637
|
|
NM_000219.6(KCNE1):c.199C>A (p.Arg67Ser)
|
rs199473645
|
|
NM_000219.6(KCNE1):c.199C>G (p.Arg67Gly)
|
rs199473645
|
|
NM_000219.6(KCNE1):c.199C>T (p.Arg67Cys)
|
rs199473645
|
|
NM_000219.6(KCNE1):c.1A>T (p.Met1Leu)
|
rs2123460074
|
|
NM_000219.6(KCNE1):c.200G>T (p.Arg67Leu)
|
rs79654911
|
|
NM_000219.6(KCNE1):c.202_205del (p.Ser68fs)
|
rs1555843953
|
|
NM_000219.6(KCNE1):c.207G>A (p.Lys69=)
|
|
|
NM_000219.6(KCNE1):c.208A>C (p.Lys70Gln)
|
rs1568836235
|
|
NM_000219.6(KCNE1):c.208A>G (p.Lys70Glu)
|
rs1568836235
|
|
NM_000219.6(KCNE1):c.209A>T (p.Lys70Met)
|
rs199473646
|
|
NM_000219.6(KCNE1):c.211C>G (p.Leu71Val)
|
rs1980991765
|
|
NM_000219.6(KCNE1):c.216G>A (p.Glu72=)
|
|
|
NM_000219.6(KCNE1):c.219C>T (p.His73=)
|
|
|
NM_000219.6(KCNE1):c.221C>G (p.Ser74Trp)
|
rs74315446
|
|
NM_000219.6(KCNE1):c.223A>C (p.Asn75His)
|
|
|
NM_000219.6(KCNE1):c.227_229delinsTCTA (p.Asp76fs)
|
rs1555843898
|
|
NM_000219.6(KCNE1):c.22G>T (p.Ala8Ser)
|
|
|
NM_000219.6(KCNE1):c.230del (p.Pro77fs)
|
rs2123457833
|
|
NM_000219.6(KCNE1):c.244A>G (p.Ile82Val)
|
|
|
NM_000219.6(KCNE1):c.244A>T (p.Ile82Phe)
|
rs2123457694
|
|
NM_000219.6(KCNE1):c.246C>G (p.Ile82Met)
|
|
|
NM_000219.6(KCNE1):c.256G>A (p.Ala86Thr)
|
rs1980978031
|
|
NM_000219.6(KCNE1):c.265G>A (p.Glu89Lys)
|
|
|
NM_000219.6(KCNE1):c.268A>G (p.Lys90Glu)
|
|
|
NM_000219.6(KCNE1):c.275A>G (p.Lys92Arg)
|
|
|
NM_000219.6(KCNE1):c.283G>A (p.Val95Ile)
|
rs772405174
|
|
NM_000219.6(KCNE1):c.287A>G (p.Gln96Arg)
|
rs767972997
|
|
NM_000219.6(KCNE1):c.288G>A (p.Gln96=)
|
|
|
NM_000219.6(KCNE1):c.292C>A (p.Arg98=)
|
rs199473362
|
|
NM_000219.6(KCNE1):c.292C>G (p.Arg98Gly)
|
rs199473362
|
|
NM_000219.6(KCNE1):c.292C>T (p.Arg98Trp)
|
rs199473362
|
|
NM_000219.6(KCNE1):c.292del (p.Arg98fs)
|
rs1555843717
|
|
NM_000219.6(KCNE1):c.294G>T (p.Arg98=)
|
|
|
NM_000219.6(KCNE1):c.311G>C (p.Arg104Thr)
|
rs2123457058
|
|
NM_000219.6(KCNE1):c.315G>C (p.Ser105=)
|
|
|
NM_000219.6(KCNE1):c.31C>A (p.Pro11Thr)
|
rs775325455
|
|
NM_000219.6(KCNE1):c.327T>G (p.Val109=)
|
rs1601042810
|
|
NM_000219.6(KCNE1):c.329A>G (p.Glu110Gly)
|
rs2123456879
|
|
NM_000219.6(KCNE1):c.32C>G (p.Pro11Arg)
|
rs771981567
|
|
NM_000219.6(KCNE1):c.334_342dup (p.His112_Ala114dup)
|
rs1374867074
|
|
NM_000219.6(KCNE1):c.335A>G (p.His112Arg)
|
rs1352531511
|
|
NM_000219.6(KCNE1):c.337C>G (p.Leu113Val)
|
|
|
NM_000219.6(KCNE1):c.339G>A (p.Leu113=)
|
|
|
NM_000219.6(KCNE1):c.343A>G (p.Ile115Val)
|
|
|
NM_000219.6(KCNE1):c.349C>T (p.Gln117Ter)
|
|
|
NM_000219.6(KCNE1):c.359C>T (p.Thr120Ile)
|
rs1568835425
|
|
NM_000219.6(KCNE1):c.368C>T (p.Pro123Leu)
|
rs1980939963
|
|
NM_000219.6(KCNE1):c.370_385del (p.Glu124fs)
|
rs2123456499
|
|
NM_000219.6(KCNE1):c.371A>G (p.Glu124Gly)
|
|
|
NM_000219.6(KCNE1):c.379C>T (p.Pro127Ser)
|
|
|
NM_000219.6(KCNE1):c.380C>T (p.Pro127Leu)
|
rs1980935216
|
|
NM_000219.6(KCNE1):c.384C>A (p.Ser128=)
|
|
|
NM_000219.6(KCNE1):c.388T>C (p.Ter130Arg)
|
rs2123456481
|
|
NM_000219.6(KCNE1):c.39G>C (p.Leu13=)
|
rs976122175
|
|
NM_000219.6(KCNE1):c.43A>G (p.Lys15Glu)
|
|
|
NM_000219.6(KCNE1):c.49T>A (p.Trp17Arg)
|
|
|
NM_000219.6(KCNE1):c.49T>C (p.Trp17Arg)
|
rs1469858578
|
|
NM_000219.6(KCNE1):c.51G>A (p.Trp17Ter)
|
rs1244688796
|
|
NM_000219.6(KCNE1):c.60A>G (p.Thr20=)
|
rs2123459519
|
|
NM_000219.6(KCNE1):c.72T>C (p.Gly24=)
|
|
|
NM_000219.6(KCNE1):c.74G>T (p.Gly25Val)
|
|
|
NM_000219.6(KCNE1):c.75C>A (p.Gly25=)
|
rs753064398
|
|
NM_000219.6(KCNE1):c.79A>G (p.Met27Val)
|
rs755452452
|
|
NM_000219.6(KCNE1):c.92C>T (p.Ala31Val)
|
|
|
NM_000219.6(KCNE1):c.97A>G (p.Arg33Gly)
|
|
|
NM_000219.6(KCNE1):c.99G>T (p.Arg33Ser)
|
|
|
NM_000238.3(KCNH2):c.1498_1524del27 (p.Ile500_Phe508del)
|
rs794728438
|
|
NM_000238.3(KCNH2):c.473_501dup (p.Pro168Alafs)
|
rs863224478
|
|
NM_000238.4(KCNH2):c.1000C>T (p.Pro334Ser)
|
|
|
NM_000238.4(KCNH2):c.1001C>T (p.Pro334Leu)
|
rs199472888
|
|
NM_000238.4(KCNH2):c.1003C>T (p.Gln335Ter)
|
rs1801410644
|
|
NM_000238.4(KCNH2):c.100del (p.Ala34fs)
|
rs794728506
|
|
NM_000238.4(KCNH2):c.1017C>G (p.Asn339Lys)
|
rs1801410026
|
|
NM_000238.4(KCNH2):c.1017C>T (p.Asn339=)
|
rs1801410026
|
|
NM_000238.4(KCNH2):c.1027del (p.Leu343fs)
|
rs1801409660
|
|
NM_000238.4(KCNH2):c.1036G>A (p.Asp346Asn)
|
rs1420621400
|
|
NM_000238.4(KCNH2):c.1038C>A (p.Asp346Glu)
|
rs758083853
|
|
NM_000238.4(KCNH2):c.103C>T (p.Arg35Trp)
|
rs2117063783
|
|
NM_000238.4(KCNH2):c.1041C>G (p.Pro347=)
|
rs545444296
|
|
NM_000238.4(KCNH2):c.1041C>T (p.Pro347=)
|
|
|
NM_000238.4(KCNH2):c.1043T>A (p.Phe348Tyr)
|
rs794728363
|
|
NM_000238.4(KCNH2):c.1053G>A (p.Ser351=)
|
rs766203252
|
|
NM_000238.4(KCNH2):c.1055C>G (p.Pro352Arg)
|
rs1801408390
|
|
NM_000238.4(KCNH2):c.1056C>T (p.Pro352=)
|
rs1554427342
|
|
NM_000238.4(KCNH2):c.1057A>T (p.Thr353Ser)
|
|
|
NM_000238.4(KCNH2):c.1058C>T (p.Thr353Ile)
|
rs1801408187
|
|
NM_000238.4(KCNH2):c.1065C>G (p.Asp355Glu)
|
|
|
NM_000238.4(KCNH2):c.1066C>G (p.Arg356Gly)
|
|
|
NM_000238.4(KCNH2):c.1076T>A (p.Ile359Lys)
|
rs1554427331
|
|
NM_000238.4(KCNH2):c.1081C>T (p.Pro361Ser)
|
rs1293901043
|
|
NM_000238.4(KCNH2):c.1086G>C (p.Lys362Asn)
|
rs2116997449
|
|
NM_000238.4(KCNH2):c.1089A>T (p.Ile363=)
|
|
|
NM_000238.4(KCNH2):c.1092G>A (p.Lys364=)
|
rs2116997432
|
|
NM_000238.4(KCNH2):c.1096C>T (p.Arg366Ter)
|
rs794728364
|
|
NM_000238.4(KCNH2):c.1097G>A (p.Arg366Gln)
|
rs1372751640
|
|
NM_000238.4(KCNH2):c.1099A>G (p.Thr367Ala)
|
rs199472890
|
|
NM_000238.4(KCNH2):c.1110C>A (p.Val370=)
|
rs1460270324
|
|
NM_000238.4(KCNH2):c.1111A>G (p.Thr371Ala)
|
rs1801406186
|
|
NM_000238.4(KCNH2):c.1112_1113dup (p.Glu372fs)
|
rs1801406108
|
|
NM_000238.4(KCNH2):c.111G>A (p.Glu37=)
|
rs1584883463
|
|
NM_000238.4(KCNH2):c.1121_1122del (p.Val374fs)
|
rs1554427317
|
|
NM_000238.4(KCNH2):c.1122C>T (p.Val374=)
|
|
|
NM_000238.4(KCNH2):c.1128+10C>G
|
rs2116997072
|
|
NM_000238.4(KCNH2):c.1128+11A>G
|
|
|
NM_000238.4(KCNH2):c.1128+13C>A
|
|
|
NM_000238.4(KCNH2):c.1128+13C>G
|
|
|
NM_000238.4(KCNH2):c.1128+17C>G
|
|
|
NM_000238.4(KCNH2):c.1128+17C>T
|
|
|
NM_000238.4(KCNH2):c.1128+1822G>T
|
rs781494018
|
|
NM_000238.4(KCNH2):c.1128+1826T>C
|
rs2116987080
|
|
NM_000238.4(KCNH2):c.1128+1851C>T
|
rs1584860856
|
|
NM_000238.4(KCNH2):c.1128+1871C>T
|
rs1554426874
|
|
NM_000238.4(KCNH2):c.1128+1883C>G
|
rs199698029
|
|
NM_000238.4(KCNH2):c.1128+1883C>T
|
rs199698029
|
|
NM_000238.4(KCNH2):c.1128+1888C>T
|
rs1031478932
|
|
NM_000238.4(KCNH2):c.1128+1895G>C
|
rs1060500666
|
|
NM_000238.4(KCNH2):c.1128+1G>A
|
rs1405113457
|
|
NM_000238.4(KCNH2):c.1128G>A (p.Gln376=)
|
rs770047651
|
|
NM_000238.4(KCNH2):c.1129-18C>A
|
|
|
NM_000238.4(KCNH2):c.1129-1G>A
|
rs794728478
|
|
NM_000238.4(KCNH2):c.1129-2A>G
|
rs794728365
|
|
NM_000238.4(KCNH2):c.1129-2_1145dup
|
rs1801235489
|
|
NM_000238.4(KCNH2):c.1129-831_3109dup
|
|
|
NM_000238.4(KCNH2):c.1131C>T (p.Val377=)
|
rs1251473864
|
|
NM_000238.4(KCNH2):c.1132_1133del (p.Leu378fs)
|
rs1563161565
|
|
NM_000238.4(KCNH2):c.1144G>A (p.Ala382Thr)
|
|
|
NM_000238.4(KCNH2):c.1146C>G (p.Ala382=)
|
rs202147325
|
|
NM_000238.4(KCNH2):c.1147G>A (p.Asp383Asn)
|
rs2116973266
|
|
NM_000238.4(KCNH2):c.114C>G (p.Asn38Lys)
|
rs2117063715
|
|
NM_000238.4(KCNH2):c.1150G>A (p.Val384Met)
|
|
|
NM_000238.4(KCNH2):c.1155G>A (p.Leu385=)
|
|
|
NM_000238.4(KCNH2):c.1161G>A (p.Glu387=)
|
|
|
NM_000238.4(KCNH2):c.1167G>A (p.Lys389=)
|
rs2116973050
|
|
NM_000238.4(KCNH2):c.116G>A (p.Cys39Tyr)
|
|
|
NM_000238.4(KCNH2):c.1180C>T (p.Arg394Cys)
|
rs1325776019
|
|
NM_000238.4(KCNH2):c.1181del (p.Arg394fs)
|
|
|
NM_000238.4(KCNH2):c.1182C>T (p.Arg394=)
|
rs2116972917
|
|
NM_000238.4(KCNH2):c.1188C>T (p.His396=)
|
rs2116972876
|
|
NM_000238.4(KCNH2):c.1191C>A (p.Arg397=)
|
rs1362497464
|
|
NM_000238.4(KCNH2):c.1193G>A (p.Trp398Ter)
|
rs794728366
|
|
NM_000238.4(KCNH2):c.1195A>G (p.Thr399Ala)
|
|
|
NM_000238.4(KCNH2):c.1197del (p.Ile400fs)
|
rs1801232040
|
|
NM_000238.4(KCNH2):c.1203G>A (p.Leu401=)
|
rs2116972683
|
|
NM_000238.4(KCNH2):c.1205A>G (p.His402Arg)
|
rs199473506
|
|
NM_000238.4(KCNH2):c.1208A>G (p.Tyr403Cys)
|
|
|
NM_000238.4(KCNH2):c.1215C>G (p.Pro405=)
|
rs2116972585
|
|
NM_000238.4(KCNH2):c.1225G>A (p.Val409Met)
|
rs539146547
|
|
NM_000238.4(KCNH2):c.1227G>C (p.Val409=)
|
|
|
NM_000238.4(KCNH2):c.1231G>A (p.Asp411Asn)
|
rs1801230141
|
|
NM_000238.4(KCNH2):c.1231G>T (p.Asp411Tyr)
|
|
|
NM_000238.4(KCNH2):c.1241T>A (p.Ile414Asn)
|
|
|
NM_000238.4(KCNH2):c.1242C>T (p.Ile414=)
|
rs766849710
|
|
NM_000238.4(KCNH2):c.1243C>T (p.Leu415=)
|
rs1286044647
|
|
NM_000238.4(KCNH2):c.1245G>C (p.Leu415=)
|
rs1411817701
|
|
NM_000238.4(KCNH2):c.1251G>A (p.Leu417=)
|
rs1345291709
|
|
NM_000238.4(KCNH2):c.1251G>C (p.Leu417=)
|
rs1345291709
|
|
NM_000238.4(KCNH2):c.1259A>C (p.Tyr420Ser)
|
|
|
NM_000238.4(KCNH2):c.1259A>G (p.Tyr420Cys)
|
rs199473507
|
|
NM_000238.4(KCNH2):c.125T>C (p.Ile42Thr)
|
rs199473488
|
|
NM_000238.4(KCNH2):c.1260C>G (p.Tyr420Ter)
|
|
|
NM_000238.4(KCNH2):c.1262C>G (p.Thr421Arg)
|
|
|
NM_000238.4(KCNH2):c.1262C>T (p.Thr421Met)
|
rs199472894
|
|
NM_000238.4(KCNH2):c.1264G>A (p.Ala422Thr)
|
rs199472895
|
|
NM_000238.4(KCNH2):c.126C>T (p.Ile42=)
|
|
|
NM_000238.4(KCNH2):c.1274C>G (p.Thr425Arg)
|
|
|
NM_000238.4(KCNH2):c.1278C>G (p.Pro426=)
|
|
|
NM_000238.4(KCNH2):c.1280A>C (p.Tyr427Ser)
|
rs199472897
|
|
NM_000238.4(KCNH2):c.1285del (p.Ala429fs)
|
rs794728498
|
|
NM_000238.4(KCNH2):c.1287T>C (p.Ala429=)
|
|
|
NM_000238.4(KCNH2):c.1289C>A (p.Ala430Asp)
|
rs2116971776
|
|
NM_000238.4(KCNH2):c.128A>G (p.Tyr43Cys)
|
rs199472836
|
|
NM_000238.4(KCNH2):c.1291T>C (p.Phe431Leu)
|
rs1554426244
|
|
NM_000238.4(KCNH2):c.1293C>A (p.Phe431Leu)
|
rs199472900
|
|
NM_000238.4(KCNH2):c.1294C>T (p.Leu432=)
|
|
|
NM_000238.4(KCNH2):c.1298_1304del (p.Leu433fs)
|
rs2116971722
|
|
NM_000238.4(KCNH2):c.1304A>G (p.Glu435Gly)
|
|
|
NM_000238.4(KCNH2):c.1308G>A (p.Thr436=)
|
rs527911312
|
|
NM_000238.4(KCNH2):c.1311A>G (p.Glu437=)
|
rs2116971640
|
|
NM_000238.4(KCNH2):c.131G>A (p.Cys44Tyr)
|
rs199473489
|
|
NM_000238.4(KCNH2):c.1320G>A (p.Pro440=)
|
rs144926928
|
|
NM_000238.4(KCNH2):c.1320G>T (p.Pro440=)
|
rs144926928
|
|
NM_000238.4(KCNH2):c.1325C>T (p.Ala442Val)
|
rs1554426225
|
|
NM_000238.4(KCNH2):c.1326_1347del (p.Thr443fs)
|
|
|
NM_000238.4(KCNH2):c.1328C>A (p.Thr443Asn)
|
|
|
NM_000238.4(KCNH2):c.1328_1349dup (p.Gln450fs)
|
|
|
NM_000238.4(KCNH2):c.1329C>G (p.Thr443=)
|
|
|
NM_000238.4(KCNH2):c.1330G>T (p.Glu444Ter)
|
rs201268831
|
|
NM_000238.4(KCNH2):c.1335dup (p.Gly446fs)
|
rs1554426219
|
|
NM_000238.4(KCNH2):c.1342G>A (p.Ala448Thr)
|
rs767723985
|
|
NM_000238.4(KCNH2):c.1342G>T (p.Ala448Ser)
|
rs767723985
|
|
NM_000238.4(KCNH2):c.1348C>T (p.Gln450Ter)
|
rs1563160541
|
|
NM_000238.4(KCNH2):c.134A>C (p.Asn45Thr)
|
rs1801939758
|
|
NM_000238.4(KCNH2):c.135C>A (p.Asn45Lys)
|
rs1422251865
|
|
NM_000238.4(KCNH2):c.135C>G (p.Asn45Lys)
|
|
|
NM_000238.4(KCNH2):c.135C>T (p.Asn45=)
|
rs1422251865
|
|
NM_000238.4(KCNH2):c.1368C>T (p.Asp456=)
|
rs1292657488
|
|
NM_000238.4(KCNH2):c.1371C>G (p.Leu457=)
|
rs2116970938
|
|
NM_000238.4(KCNH2):c.1372A>G (p.Ile458Val)
|
|
|
NM_000238.4(KCNH2):c.1372A>T (p.Ile458Phe)
|
rs374303744
|
|
NM_000238.4(KCNH2):c.1379del (p.Asp460fs)
|
rs1584856544
|
|
NM_000238.4(KCNH2):c.137A>G (p.Asp46Gly)
|
rs2117063507
|
|
NM_000238.4(KCNH2):c.1383C>A (p.Ile461=)
|
rs1017150984
|
|
NM_000238.4(KCNH2):c.1384A>G (p.Met462Val)
|
rs1801220156
|
|
NM_000238.4(KCNH2):c.1393G>A (p.Val465Met)
|
rs2116970672
|
|
NM_000238.4(KCNH2):c.1397A>G (p.Asp466Gly)
|
rs1584856497
|
|
NM_000238.4(KCNH2):c.1397A>T (p.Asp466Val)
|
rs1584856497
|
|
NM_000238.4(KCNH2):c.139G>C (p.Gly47Arg)
|
|
|
NM_000238.4(KCNH2):c.13A>C (p.Arg5=)
|
|
|
NM_000238.4(KCNH2):c.1401C>T (p.Ile467=)
|
rs1584856486
|
|
NM_000238.4(KCNH2):c.1414C>T (p.Arg472Cys)
|
|
|
NM_000238.4(KCNH2):c.1415G>A (p.Arg472His)
|
|
|
NM_000238.4(KCNH2):c.1415G>C (p.Arg472Pro)
|
rs794728369
|
|
NM_000238.4(KCNH2):c.1416C>T (p.Arg472=)
|
rs770899326
|
|
NM_000238.4(KCNH2):c.1417A>C (p.Thr473Pro)
|
rs199473512
|
|
NM_000238.4(KCNH2):c.1417A>G (p.Thr473Ala)
|
|
|
NM_000238.4(KCNH2):c.1419C>A (p.Thr473=)
|
rs1057522546
|
|
NM_000238.4(KCNH2):c.141C>T (p.Gly47=)
|
|
|
NM_000238.4(KCNH2):c.1420_1472del (p.Thr474fs)
|
rs2116969765
|
|
NM_000238.4(KCNH2):c.1423T>A (p.Tyr475Asn)
|
|
|
NM_000238.4(KCNH2):c.1446G>A (p.Val482=)
|
|
|
NM_000238.4(KCNH2):c.1447G>T (p.Val483Phe)
|
rs755834128
|
|
NM_000238.4(KCNH2):c.1454_1462del (p.His485_Gly487del)
|
|
|
NM_000238.4(KCNH2):c.1455C>T (p.His485=)
|
|
|
NM_000238.4(KCNH2):c.1467C>A (p.Ile489=)
|
rs740952
|
|
NM_000238.4(KCNH2):c.1467C>T (p.Ile489=)
|
rs740952
|
|
NM_000238.4(KCNH2):c.1468G>A (p.Ala490Thr)
|
rs28928905
|
|
NM_000238.4(KCNH2):c.1469C>T (p.Ala490Val)
|
rs1801214475
|
|
NM_000238.4(KCNH2):c.146_147delinsAA (p.Cys49Ter)
|
rs1584883377
|
|
NM_000238.4(KCNH2):c.1475A>T (p.His492Leu)
|
rs1563160015
|
|
NM_000238.4(KCNH2):c.1477T>C (p.Tyr493His)
|
rs1584856217
|
|
NM_000238.4(KCNH2):c.1478A>C (p.Tyr493Ser)
|
rs199472911
|
|
NM_000238.4(KCNH2):c.1478A>G (p.Tyr493Cys)
|
rs199472911
|
|
NM_000238.4(KCNH2):c.1479C>A (p.Tyr493Ter)
|
rs878853771
|
|
NM_000238.4(KCNH2):c.1479C>T (p.Tyr493=)
|
rs878853771
|
|
NM_000238.4(KCNH2):c.147C>T (p.Cys49=)
|
rs794728410
|
|
NM_000238.4(KCNH2):c.1482C>T (p.Phe494=)
|
rs2116969628
|
|
NM_000238.4(KCNH2):c.148G>C (p.Glu50Gln)
|
rs1801938958
|
|
NM_000238.4(KCNH2):c.1496T>G (p.Leu499Arg)
|
rs794728370
|
|
NM_000238.4(KCNH2):c.1499T>A (p.Ile500Asn)
|
rs2116969573
|
|
NM_000238.4(KCNH2):c.1500C>A (p.Ile500=)
|
rs147126965
|
|
NM_000238.4(KCNH2):c.1500C>T (p.Ile500=)
|
rs147126965
|
|
NM_000238.4(KCNH2):c.1501G>A (p.Asp501Asn)
|
rs199472912
|
|
NM_000238.4(KCNH2):c.1509G>A (p.Val503=)
|
rs967889413
|
|
NM_000238.4(KCNH2):c.1512C>G (p.Ala504=)
|
rs41311003
|
|
NM_000238.4(KCNH2):c.1513del (p.Ala505fs)
|
rs1064793832
|
|
NM_000238.4(KCNH2):c.1518C>A (p.Ile506=)
|
rs1418058264
|
|
NM_000238.4(KCNH2):c.1519C>G (p.Pro507Ala)
|
rs794728371
|
|
NM_000238.4(KCNH2):c.1524C>A (p.Phe508Leu)
|
rs555601424
|
|
NM_000238.4(KCNH2):c.1525G>A (p.Asp509Asn)
|
rs370637245
|
|
NM_000238.4(KCNH2):c.152T>C (p.Leu51Pro)
|
|
|
NM_000238.4(KCNH2):c.1533C>T (p.Leu511=)
|
rs1489383422
|
|
NM_000238.4(KCNH2):c.1537T>C (p.Phe513Leu)
|
rs1563159718
|
|
NM_000238.4(KCNH2):c.154del (p.Cys52fs)
|
rs794728508
|
|
NM_000238.4(KCNH2):c.1557+11C>T
|
rs2116968709
|
|
NM_000238.4(KCNH2):c.1557+13A>G
|
|
|
NM_000238.4(KCNH2):c.1557+17G>A
|
|
|
NM_000238.4(KCNH2):c.1557+18G>A
|
|
|
NM_000238.4(KCNH2):c.1557+1G>C
|
rs886039043
|
|
NM_000238.4(KCNH2):c.1557+3G>A
|
rs1801209209
|
|
NM_000238.4(KCNH2):c.1557+5G>A
|
|
|
NM_000238.4(KCNH2):c.1557+8C>T
|
rs2116968729
|
|
NM_000238.4(KCNH2):c.1558-11C>A
|
|
|
NM_000238.4(KCNH2):c.1558-13C>T
|
|
|
NM_000238.4(KCNH2):c.1558-17C>T
|
|
|
NM_000238.4(KCNH2):c.1558-1G>C
|
rs2116964889
|
|
NM_000238.4(KCNH2):c.1558-4C>T
|
rs1801185176
|
|
NM_000238.4(KCNH2):c.1558-7C>T
|
|
|
NM_000238.4(KCNH2):c.1564G>A (p.Gly522Arg)
|
rs199473514
|
|
NM_000238.4(KCNH2):c.1566G>C (p.Gly522=)
|
rs1801184437
|
|
NM_000238.4(KCNH2):c.1567C>A (p.Leu523Met)
|
rs1060500671
|
|
NM_000238.4(KCNH2):c.1569G>A (p.Leu523=)
|
rs2116964732
|
|
NM_000238.4(KCNH2):c.156C>A (p.Cys52Ter)
|
rs754921704
|
|
NM_000238.4(KCNH2):c.156C>G (p.Cys52Trp)
|
rs754921704
|
|
NM_000238.4(KCNH2):c.1570C>T (p.Leu524=)
|
|
|
NM_000238.4(KCNH2):c.1573_1590del (p.Lys525_Leu530del)
|
|
|
NM_000238.4(KCNH2):c.1576A>G (p.Thr526Ala)
|
rs1801183927
|
|
NM_000238.4(KCNH2):c.1578T>C (p.Thr526=)
|
|
|
NM_000238.4(KCNH2):c.1578del (p.Ala527fs)
|
rs1801183828
|
|
NM_000238.4(KCNH2):c.157G>T (p.Gly53Cys)
|
rs199472842
|
|
NM_000238.4(KCNH2):c.1580C>T (p.Ala527Val)
|
|
|
NM_000238.4(KCNH2):c.1580del (p.Ala527fs)
|
|
|
NM_000238.4(KCNH2):c.1582C>A (p.Arg528=)
|
rs864622403
|
|
NM_000238.4(KCNH2):c.1583G>A (p.Arg528Gln)
|
rs199472914
|
|
NM_000238.4(KCNH2):c.1591C>T (p.Arg531Trp)
|
rs199472915
|
|
NM_000238.4(KCNH2):c.1596G>C (p.Leu532=)
|
rs2116964399
|
|
NM_000238.4(KCNH2):c.159C>G (p.Gly53=)
|
|
|
NM_000238.4(KCNH2):c.1600C>A (p.Arg534Ser)
|
rs199472916
|
|
NM_000238.4(KCNH2):c.1600C>T (p.Arg534Cys)
|
rs199472916
|
|
NM_000238.4(KCNH2):c.1601G>T (p.Arg534Leu)
|
rs199473516
|
|
NM_000238.4(KCNH2):c.1603G>A (p.Val535Met)
|
rs375872367
|
|
NM_000238.4(KCNH2):c.1603G>T (p.Val535Leu)
|
rs375872367
|
|
NM_000238.4(KCNH2):c.1605G>T (p.Val535=)
|
|
|
NM_000238.4(KCNH2):c.1608G>C (p.Ala536=)
|
rs144925439
|
|
NM_000238.4(KCNH2):c.1609C>T (p.Arg537Trp)
|
rs199472917
|
|
NM_000238.4(KCNH2):c.160T>C (p.Tyr54His)
|
rs199472843
|
|
NM_000238.4(KCNH2):c.1611G>A (p.Arg537=)
|
rs756962248
|
|
NM_000238.4(KCNH2):c.1611G>T (p.Arg537=)
|
rs756962248
|
|
NM_000238.4(KCNH2):c.1622G>A (p.Arg541His)
|
rs1297393452
|
|
NM_000238.4(KCNH2):c.1624T>C (p.Tyr542His)
|
|
|
NM_000238.4(KCNH2):c.1624del (p.Tyr542fs)
|
|
|
NM_000238.4(KCNH2):c.1626C>A (p.Tyr542Ter)
|
|
|
NM_000238.4(KCNH2):c.1629A>C (p.Ser543=)
|
rs762579233
|
|
NM_000238.4(KCNH2):c.1629dup (p.Glu544fs)
|
rs2116963916
|
|
NM_000238.4(KCNH2):c.1632G>A (p.Glu544=)
|
rs752253750
|
|
NM_000238.4(KCNH2):c.1638C>T (p.Gly546=)
|
rs759245832
|
|
NM_000238.4(KCNH2):c.1641G>C (p.Ala547=)
|
rs149902084
|
|
NM_000238.4(KCNH2):c.164C>A (p.Ser55Ter)
|
rs199472844
|
|
NM_000238.4(KCNH2):c.164C>G (p.Ser55Trp)
|
|
|
NM_000238.4(KCNH2):c.164C>T (p.Ser55Leu)
|
rs199472844
|
|
NM_000238.4(KCNH2):c.1650G>A (p.Leu550=)
|
rs1801178785
|
|
NM_000238.4(KCNH2):c.1650G>T (p.Leu550=)
|
|
|
NM_000238.4(KCNH2):c.1652T>C (p.Phe551Ser)
|
rs1057524535
|
|
NM_000238.4(KCNH2):c.1655T>A (p.Leu552Ter)
|
rs199472918
|
|
NM_000238.4(KCNH2):c.165G>C (p.Ser55=)
|
rs1801937336
|
|
NM_000238.4(KCNH2):c.1661T>A (p.Met554Lys)
|
|
|
NM_000238.4(KCNH2):c.1661T>C (p.Met554Thr)
|
rs1584854609
|
|
NM_000238.4(KCNH2):c.1664G>A (p.Cys555Tyr)
|
rs1057517866
|
|
NM_000238.4(KCNH2):c.166C>A (p.Arg56=)
|
rs1801937245
|
|
NM_000238.4(KCNH2):c.1673C>A (p.Ala558Glu)
|
rs199472919
|
|
NM_000238.4(KCNH2):c.1674G>A (p.Ala558=)
|
rs554855472
|
|
NM_000238.4(KCNH2):c.1674G>C (p.Ala558=)
|
rs554855472
|
|
NM_000238.4(KCNH2):c.1674G>T (p.Ala558=)
|
rs554855472
|
|
NM_000238.4(KCNH2):c.1676T>C (p.Leu559Pro)
|
rs199472920
|
|
NM_000238.4(KCNH2):c.1676_1682del (p.Leu559fs)
|
|
|
NM_000238.4(KCNH2):c.1678A>G (p.Ile560Val)
|
rs2116963315
|
|
NM_000238.4(KCNH2):c.167G>A (p.Arg56Gln)
|
rs199472845
|
|
NM_000238.4(KCNH2):c.167G>T (p.Arg56Leu)
|
rs199472845
|
|
NM_000238.4(KCNH2):c.1680C>T (p.Ile560=)
|
rs372725107
|
|
NM_000238.4(KCNH2):c.1681G>A (p.Ala561Thr)
|
rs199472921
|
|
NM_000238.4(KCNH2):c.1682C>T (p.Ala561Val)
|
rs121912504
|
|
NM_000238.4(KCNH2):c.1683G>C (p.Ala561=)
|
|
|
NM_000238.4(KCNH2):c.1684C>A (p.His562Asn)
|
rs794728481
|
|
NM_000238.4(KCNH2):c.1684C>T (p.His562Tyr)
|
rs794728481
|
|
NM_000238.4(KCNH2):c.1685A>C (p.His562Pro)
|
rs199472922
|
|
NM_000238.4(KCNH2):c.1685A>G (p.His562Arg)
|
rs199472922
|
|
NM_000238.4(KCNH2):c.1688G>A (p.Trp563Ter)
|
rs1801175648
|
|
NM_000238.4(KCNH2):c.1689G>A (p.Trp563Ter)
|
rs199473517
|
|
NM_000238.4(KCNH2):c.1691T>A (p.Leu564Gln)
|
rs199472924
|
|
NM_000238.4(KCNH2):c.1692_1693delinsGA (p.Ala565Thr)
|
rs2116962914
|
|
NM_000238.4(KCNH2):c.1695del (p.Cys566fs)
|
rs1060500661
|
|
NM_000238.4(KCNH2):c.1697G>C (p.Cys566Ser)
|
rs199472925
|
|
NM_000238.4(KCNH2):c.169G>C (p.Ala57Pro)
|
rs199472846
|
|
NM_000238.4(KCNH2):c.169G>T (p.Ala57Ser)
|
|
|
NM_000238.4(KCNH2):c.1700T>C (p.Ile567Thr)
|
rs199473519
|
|
NM_000238.4(KCNH2):c.1701C>G (p.Ile567Met)
|
|
|
NM_000238.4(KCNH2):c.1701del (p.Trp568fs)
|
rs794728440
|
|
NM_000238.4(KCNH2):c.1703G>A (p.Trp568Ter)
|
|
|
NM_000238.4(KCNH2):c.1704G>C (p.Trp568Cys)
|
rs199472926
|
|
NM_000238.4(KCNH2):c.1707_1711dup (p.Ile571fs)
|
rs2116962569
|
|
NM_000238.4(KCNH2):c.1708G>A (p.Ala570Thr)
|
rs1727086844
|
|
NM_000238.4(KCNH2):c.170C>T (p.Ala57Val)
|
rs794728493
|
|
NM_000238.4(KCNH2):c.1711A>G (p.Ile571Val)
|
rs199472928
|
|
NM_000238.4(KCNH2):c.1714G>A (p.Gly572Ser)
|
rs9333649
|
|
NM_000238.4(KCNH2):c.1715G>T (p.Gly572Val)
|
rs199473423
|
|
NM_000238.4(KCNH2):c.1719C>T (p.Asn573=)
|
|
|
NM_000238.4(KCNH2):c.171C>T (p.Ala57=)
|
|
|
NM_000238.4(KCNH2):c.1720A>G (p.Met574Val)
|
rs199473667
|
|
NM_000238.4(KCNH2):c.1720_1945+102del
|
|
|
NM_000238.4(KCNH2):c.1724_1729del (p.Glu575_Pro577delinsAla)
|
rs2116962228
|
|
NM_000238.4(KCNH2):c.1726delinsTGTTGGCGTG (p.Gln576delinsCysTrpArgGlu)
|
rs1584854227
|
|
NM_000238.4(KCNH2):c.172G>A (p.Glu58Lys)
|
rs199473413
|
|
NM_000238.4(KCNH2):c.172G>C (p.Glu58Gln)
|
|
|
NM_000238.4(KCNH2):c.172G>T (p.Glu58Ter)
|
|
|
NM_000238.4(KCNH2):c.1732C>T (p.His578Tyr)
|
|
|
NM_000238.4(KCNH2):c.1735A>G (p.Met579Val)
|
|
|
NM_000238.4(KCNH2):c.1736T>C (p.Met579Thr)
|
rs199473425
|
|
NM_000238.4(KCNH2):c.1737G>A (p.Met579Ile)
|
rs1179659979
|
|
NM_000238.4(KCNH2):c.1738G>C (p.Asp580His)
|
rs786205588
|
|
NM_000238.4(KCNH2):c.1742C>A (p.Ser581Ter)
|
rs794728483
|
|
NM_000238.4(KCNH2):c.1744C>T (p.Arg582Cys)
|
rs121912508
|
|
NM_000238.4(KCNH2):c.1745G>T (p.Arg582Leu)
|
rs199473426
|
|
NM_000238.4(KCNH2):c.1745_1746dup (p.Ile583fs)
|
rs1801170310
|
|
NM_000238.4(KCNH2):c.1746C>T (p.Arg582=)
|
rs1211087946
|
|
NM_000238.4(KCNH2):c.1747A>C (p.Ile583Leu)
|
rs199473427
|
|
NM_000238.4(KCNH2):c.1749C>G (p.Ile583Met)
|
rs765893780
|
|
NM_000238.4(KCNH2):c.1750G>T (p.Gly584Cys)
|
rs199473428
|
|
NM_000238.4(KCNH2):c.1754G>T (p.Trp585Leu)
|
rs794728484
|
|
NM_000238.4(KCNH2):c.1755G>C (p.Trp585Cys)
|
rs199473430
|
|
NM_000238.4(KCNH2):c.1762A>G (p.Asn588Asp)
|
rs199473431
|
|
NM_000238.4(KCNH2):c.1762_1765dup (p.Leu589fs)
|
|
|
NM_000238.4(KCNH2):c.1770C>A (p.Gly590=)
|
|
|
NM_000238.4(KCNH2):c.1771G>A (p.Asp591Asn)
|
rs376319070
|
|
NM_000238.4(KCNH2):c.1771G>C (p.Asp591His)
|
|
|
NM_000238.4(KCNH2):c.1778T>A (p.Ile593Lys)
|
rs28928904
|
|
NM_000238.4(KCNH2):c.1778T>G (p.Ile593Arg)
|
rs28928904
|
|
NM_000238.4(KCNH2):c.1779A>G (p.Ile593Met)
|
|
|
NM_000238.4(KCNH2):c.1780G>C (p.Gly594Arg)
|
rs1801167694
|
|
NM_000238.4(KCNH2):c.1783A>G (p.Lys595Glu)
|
rs199472932
|
|
NM_000238.4(KCNH2):c.1788C>G (p.Pro596=)
|
rs1801166919
|
|
NM_000238.4(KCNH2):c.1790A>G (p.Tyr597Cys)
|
rs199472934
|
|
NM_000238.4(KCNH2):c.1793A>G (p.Asn598Ser)
|
rs2116961300
|
|
NM_000238.4(KCNH2):c.1801G>A (p.Gly601Ser)
|
rs199472936
|
|
NM_000238.4(KCNH2):c.1805T>C (p.Leu602Pro)
|
rs876661348
|
|
NM_000238.4(KCNH2):c.1806G>A (p.Leu602=)
|
|
|
NM_000238.4(KCNH2):c.1808G>A (p.Gly603Asp)
|
rs1554425806
|
|
NM_000238.4(KCNH2):c.180G>A (p.Met60Ile)
|
|
|
NM_000238.4(KCNH2):c.1810G>A (p.Gly604Ser)
|
rs199473522
|
|
NM_000238.4(KCNH2):c.1812C>T (p.Gly604=)
|
rs1801165070
|
|
NM_000238.4(KCNH2):c.1813C>T (p.Pro605Ser)
|
rs199472939
|
|
NM_000238.4(KCNH2):c.1814C>A (p.Pro605His)
|
rs199472938
|
|
NM_000238.4(KCNH2):c.1814C>T (p.Pro605Leu)
|
rs199472938
|
|
NM_000238.4(KCNH2):c.1819A>C (p.Ile607Leu)
|
|
|
NM_000238.4(KCNH2):c.1823A>G (p.Lys608Arg)
|
rs2116960760
|
|
NM_000238.4(KCNH2):c.1824G>A (p.Lys608=)
|
rs1413887234
|
|
NM_000238.4(KCNH2):c.1825G>A (p.Asp609Asn)
|
rs199472941
|
|
NM_000238.4(KCNH2):c.1825_1830del (p.Asp609_Lys610del)
|
rs2116960605
|
|
NM_000238.4(KCNH2):c.1826A>C (p.Asp609Ala)
|
rs199472940
|
|
NM_000238.4(KCNH2):c.1826A>G (p.Asp609Gly)
|
rs199472940
|
|
NM_000238.4(KCNH2):c.1828A>G (p.Lys610Glu)
|
rs2116960647
|
|
NM_000238.4(KCNH2):c.1829A>G (p.Lys610Arg)
|
|
|
NM_000238.4(KCNH2):c.182A>G (p.Gln61Arg)
|
|
|
NM_000238.4(KCNH2):c.1832A>G (p.Tyr611Cys)
|
rs1801163462
|
|
NM_000238.4(KCNH2):c.1833T>C (p.Tyr611=)
|
rs2116960512
|
|
NM_000238.4(KCNH2):c.1834G>T (p.Val612Leu)
|
rs199472943
|
|
NM_000238.4(KCNH2):c.1836G>A (p.Val612=)
|
rs1554425781
|
|
NM_000238.4(KCNH2):c.1836G>T (p.Val612=)
|
rs1554425781
|
|
NM_000238.4(KCNH2):c.1837A>G (p.Thr613Ala)
|
|
|
NM_000238.4(KCNH2):c.1838C>T (p.Thr613Met)
|
rs199473524
|
|
NM_000238.4(KCNH2):c.1840G>A (p.Ala614Thr)
|
|
|
NM_000238.4(KCNH2):c.1840G>T (p.Ala614Ser)
|
rs2116960374
|
|
NM_000238.4(KCNH2):c.1841C>T (p.Ala614Val)
|
rs199472944
|
|
NM_000238.4(KCNH2):c.1842G>C (p.Ala614=)
|
|
|
NM_000238.4(KCNH2):c.1842G>T (p.Ala614=)
|
|
|
NM_000238.4(KCNH2):c.1843C>T (p.Leu615Phe)
|
rs199472945
|
|
NM_000238.4(KCNH2):c.1849T>C (p.Phe617Leu)
|
rs796052195
|
|
NM_000238.4(KCNH2):c.184C>A (p.Arg62=)
|
rs1218798860
|
|
NM_000238.4(KCNH2):c.1852A>G (p.Thr618Ala)
|
|
|
NM_000238.4(KCNH2):c.1853C>T (p.Thr618Ile)
|
rs199472947
|
|
NM_000238.4(KCNH2):c.1854C>T (p.Thr618=)
|
rs1801161429
|
|
NM_000238.4(KCNH2):c.1859G>A (p.Ser620Asn)
|
rs1801161235
|
|
NM_000238.4(KCNH2):c.1862G>A (p.Ser621Asn)
|
rs199472948
|
|
NM_000238.4(KCNH2):c.1864C>T (p.Leu622Phe)
|
rs199473525
|
|
NM_000238.4(KCNH2):c.1868C>T (p.Thr623Ile)
|
rs199472950
|
|
NM_000238.4(KCNH2):c.1870A>T (p.Ser624Cys)
|
rs1584853632
|
|
NM_000238.4(KCNH2):c.1871G>A (p.Ser624Asn)
|
rs777410293
|
|
NM_000238.4(KCNH2):c.1872T>C (p.Ser624=)
|
|
|
NM_000238.4(KCNH2):c.1877G>A (p.Gly626Asp)
|
rs199472952
|
|
NM_000238.4(KCNH2):c.1877G>T (p.Gly626Val)
|
rs199472952
|
|
NM_000238.4(KCNH2):c.1877del (p.Gly626fs)
|
|
|
NM_000238.4(KCNH2):c.1879T>C (p.Phe627Leu)
|
rs199472954
|
|
NM_000238.4(KCNH2):c.1881C>A (p.Phe627Leu)
|
rs199473039
|
|
NM_000238.4(KCNH2):c.1882G>A (p.Gly628Ser)
|
rs121912507
|
|
NM_000238.4(KCNH2):c.1884_1894delinsTGAAG (p.Asn629_Pro632delinsGluAla)
|
rs1563156461
|
|
NM_000238.4(KCNH2):c.1886A>C (p.Asn629Thr)
|
rs199472957
|
|
NM_000238.4(KCNH2):c.1886A>G (p.Asn629Ser)
|
rs199472957
|
|
NM_000238.4(KCNH2):c.1886A>T (p.Asn629Ile)
|
rs199472957
|
|
NM_000238.4(KCNH2):c.1887C>A (p.Asn629Lys)
|
rs41307295
|
|
NM_000238.4(KCNH2):c.1888G>C (p.Val630Leu)
|
rs199472958
|
|
NM_000238.4(KCNH2):c.188C>T (p.Pro63Leu)
|
rs766379103
|
|
NM_000238.4(KCNH2):c.1890C>G (p.Val630=)
|
|
|
NM_000238.4(KCNH2):c.1892C>T (p.Ser631Phe)
|
rs1554425720
|
|
NM_000238.4(KCNH2):c.1893T>G (p.Ser631=)
|
rs1554425717
|
|
NM_000238.4(KCNH2):c.1894C>G (p.Pro632Ala)
|
rs199473527
|
|
NM_000238.4(KCNH2):c.1897A>C (p.Asn633His)
|
rs199472960
|
|
NM_000238.4(KCNH2):c.1898A>C (p.Asn633Thr)
|
rs199472961
|
|
NM_000238.4(KCNH2):c.1898A>G (p.Asn633Ser)
|
rs199472961
|
|
NM_000238.4(KCNH2):c.189C>T (p.Pro63=)
|
rs760274672
|
|
NM_000238.4(KCNH2):c.18C>A (p.Gly6=)
|
|
|
NM_000238.4(KCNH2):c.1901C>T (p.Thr634Ile)
|
rs199472962
|
|
NM_000238.4(KCNH2):c.1902C>A (p.Thr634=)
|
|
|
NM_000238.4(KCNH2):c.1904A>C (p.Asn635Thr)
|
|
|
NM_000238.4(KCNH2):c.1904A>G (p.Asn635Ser)
|
rs199472964
|
|
NM_000238.4(KCNH2):c.1904A>T (p.Asn635Ile)
|
rs199472964
|
|
NM_000238.4(KCNH2):c.1905C>A (p.Asn635Lys)
|
|
|
NM_000238.4(KCNH2):c.1908A>G (p.Ser636=)
|
rs753387993
|
|
NM_000238.4(KCNH2):c.1909G>A (p.Glu637Lys)
|
rs199472968
|
|
NM_000238.4(KCNH2):c.1910AGA[1] (p.Lys638del)
|
rs794728442
|
|
NM_000238.4(KCNH2):c.1911G>C (p.Glu637Asp)
|
rs199472966
|
|
NM_000238.4(KCNH2):c.1912A>G (p.Lys638Glu)
|
rs199473528
|
|
NM_000238.4(KCNH2):c.1915A>T (p.Ile639Phe)
|
|
|
NM_000238.4(KCNH2):c.1916T>A (p.Ile639Asn)
|
rs794728379
|
|
NM_000238.4(KCNH2):c.1916TCT[1] (p.Phe640del)
|
|
|
NM_000238.4(KCNH2):c.1919T>C (p.Phe640Ser)
|
|
|
NM_000238.4(KCNH2):c.1919T>G (p.Phe640Cys)
|
rs1801154920
|
|
NM_000238.4(KCNH2):c.1921_1923del (p.Ser641del)
|
|
|
NM_000238.4(KCNH2):c.1922C>A (p.Ser641Tyr)
|
rs199472971
|
|
NM_000238.4(KCNH2):c.1922C>G (p.Ser641Cys)
|
|
|
NM_000238.4(KCNH2):c.1922C>T (p.Ser641Phe)
|
rs199472971
|
|
NM_000238.4(KCNH2):c.1930G>T (p.Val644Phe)
|
rs199472972
|
|
NM_000238.4(KCNH2):c.1934T>G (p.Met645Arg)
|
|
|
NM_000238.4(KCNH2):c.1938C>T (p.Leu646=)
|
|
|
NM_000238.4(KCNH2):c.1943G>A (p.Gly648Asp)
|
rs794728486
|
|
NM_000238.4(KCNH2):c.1944C>T (p.Gly648=)
|
rs2116958655
|
|
NM_000238.4(KCNH2):c.1945+10C>G
|
|
|
NM_000238.4(KCNH2):c.1945+13del
|
|
|
NM_000238.4(KCNH2):c.1945+19G>A
|
|
|
NM_000238.4(KCNH2):c.1945+20G>A
|
rs1057523089
|
|
NM_000238.4(KCNH2):c.1945+20G>T
|
rs1057523089
|
|
NM_000238.4(KCNH2):c.1945+6T>C
|
rs794728380
|
|
NM_000238.4(KCNH2):c.1946-17_1946-2dup
|
rs1554425573
|
|
NM_000238.4(KCNH2):c.1946-1G>C
|
rs794728375
|
|
NM_000238.4(KCNH2):c.1946-2A>C
|
rs794728488
|
|
NM_000238.4(KCNH2):c.1946-3C>T
|
|
|
NM_000238.4(KCNH2):c.1946-3dup
|
|
|
NM_000238.4(KCNH2):c.1946-4_1948del
|
rs1801137678
|
|
NM_000238.4(KCNH2):c.1946-5C>T
|
|
|
NM_000238.4(KCNH2):c.1946-9_1946-2dup
|
|
|
NM_000238.4(KCNH2):c.1946C>T (p.Ser649Phe)
|
rs199472976
|
|
NM_000238.4(KCNH2):c.1947C>T (p.Ser649=)
|
|
|
NM_000238.4(KCNH2):c.194C>G (p.Thr65Ser)
|
rs878853772
|
|
NM_000238.4(KCNH2):c.1954T>C (p.Tyr652His)
|
rs2116956522
|
|
NM_000238.4(KCNH2):c.1955_1960delinsT (p.Tyr652fs)
|
|
|
NM_000238.4(KCNH2):c.1956T>A (p.Tyr652Ter)
|
rs1137617
|
|
NM_000238.4(KCNH2):c.1956del (p.Met651_Tyr652insTer)
|
|
|
NM_000238.4(KCNH2):c.195_210dup (p.Gly71fs)
|
rs2117062966
|
|
NM_000238.4(KCNH2):c.1963A>G (p.Ile655Val)
|
rs1060500673
|
|
NM_000238.4(KCNH2):c.1963A>T (p.Ile655Phe)
|
rs1060500673
|
|
NM_000238.4(KCNH2):c.1965C>A (p.Ile655=)
|
rs774672362
|
|
NM_000238.4(KCNH2):c.1965C>G (p.Ile655Met)
|
rs774672362
|
|
NM_000238.4(KCNH2):c.1966_1989del (p.Phe656_Ile663del)
|
rs1801134712
|
|
NM_000238.4(KCNH2):c.1968C>A (p.Phe656Leu)
|
rs1238904019
|
|
NM_000238.4(KCNH2):c.1968_1969delinsTT (p.Gly657Cys)
|
rs1801136288
|
|
NM_000238.4(KCNH2):c.1969G>A (p.Gly657Ser)
|
rs199472978
|
|
NM_000238.4(KCNH2):c.196T>C (p.Cys66Arg)
|
rs199473416
|
|
NM_000238.4(KCNH2):c.1973A>G (p.Asn658Ser)
|
rs1057523338
|
|
NM_000238.4(KCNH2):c.1976T>G (p.Val659Gly)
|
|
|
NM_000238.4(KCNH2):c.197G>A (p.Cys66Tyr)
|
rs1554430943
|
|
NM_000238.4(KCNH2):c.1983del (p.Ile662fs)
|
rs1584852351
|
|
NM_000238.4(KCNH2):c.198C>A (p.Cys66Ter)
|
rs1801935667
|
|
NM_000238.4(KCNH2):c.1997T>C (p.Leu666Pro)
|
rs2116955926
|
|
NM_000238.4(KCNH2):c.1998G>T (p.Leu666=)
|
|
|
NM_000238.4(KCNH2):c.2000dup (p.Tyr667Ter)
|
rs1554425527
|
|
NM_000238.4(KCNH2):c.2003C>A (p.Ser668Ter)
|
rs749211387
|
|
NM_000238.4(KCNH2):c.2003C>T (p.Ser668Leu)
|
|
|
NM_000238.4(KCNH2):c.2004G>A (p.Ser668=)
|
rs1377228536
|
|
NM_000238.4(KCNH2):c.2006G>C (p.Gly669Ala)
|
rs1584852286
|
|
NM_000238.4(KCNH2):c.2009C>T (p.Thr670Ile)
|
|
|
NM_000238.4(KCNH2):c.200A>G (p.Asp67Gly)
|
rs1801935588
|
|
NM_000238.4(KCNH2):c.2012C>G (p.Ala671Gly)
|
rs779970711
|
|
NM_000238.4(KCNH2):c.2013C>T (p.Ala671=)
|
rs2116955668
|
|
NM_000238.4(KCNH2):c.2015G>A (p.Arg672His)
|
rs745370146
|
|
NM_000238.4(KCNH2):c.2017_2020del (p.Tyr673fs)
|
|
|
NM_000238.4(KCNH2):c.2022C>T (p.His674=)
|
rs2116955585
|
|
NM_000238.4(KCNH2):c.2026C>T (p.Gln676Ter)
|
rs794728381
|
|
NM_000238.4(KCNH2):c.2033T>C (p.Leu678Pro)
|
rs199472981
|
|
NM_000238.4(KCNH2):c.2037G>A (p.Arg679=)
|
rs1554425500
|
|
NM_000238.4(KCNH2):c.203T>G (p.Phe68Cys)
|
rs1801935420
|
|
NM_000238.4(KCNH2):c.2042G>A (p.Arg681Gln)
|
rs1801131066
|
|
NM_000238.4(KCNH2):c.2050A>G (p.Ile684Val)
|
rs2116955179
|
|
NM_000238.4(KCNH2):c.2052C>G (p.Ile684Met)
|
|
|
NM_000238.4(KCNH2):c.2058C>A (p.Phe686Leu)
|
rs2116955057
|
|
NM_000238.4(KCNH2):c.2062C>T (p.Gln688Ter)
|
rs1554425486
|
|
NM_000238.4(KCNH2):c.2069C>T (p.Pro690Leu)
|
|
|
NM_000238.4(KCNH2):c.2078T>C (p.Leu693Pro)
|
rs199472983
|
|
NM_000238.4(KCNH2):c.2079G>A (p.Leu693=)
|
|
|
NM_000238.4(KCNH2):c.2083C>T (p.Gln695Ter)
|
rs1064794793
|
|
NM_000238.4(KCNH2):c.2085G>A (p.Gln695=)
|
|
|
NM_000238.4(KCNH2):c.2086C>T (p.Arg696Cys)
|
rs199472984
|
|
NM_000238.4(KCNH2):c.2094G>T (p.Glu698Asp)
|
rs1801127916
|
|
NM_000238.4(KCNH2):c.2097G>A (p.Glu699=)
|
rs550680502
|
|
NM_000238.4(KCNH2):c.209A>G (p.His70Arg)
|
rs199473419
|
|
NM_000238.4(KCNH2):c.2104del (p.Gln702fs)
|
|
|
NM_000238.4(KCNH2):c.2114G>A (p.Trp705Ter)
|
rs2116954443
|
|
NM_000238.4(KCNH2):c.2115G>A (p.Trp705Ter)
|
rs2116954409
|
|
NM_000238.4(KCNH2):c.2118_2121dup (p.Thr708fs)
|
rs2116954362
|
|
NM_000238.4(KCNH2):c.211G>A (p.Gly71Arg)
|
rs199473420
|
|
NM_000238.4(KCNH2):c.211G>T (p.Gly71Trp)
|
rs199473420
|
|
NM_000238.4(KCNH2):c.2124C>G (p.Thr708=)
|
|
|
NM_000238.4(KCNH2):c.2128G>A (p.Gly710Ser)
|
rs1584851956
|
|
NM_000238.4(KCNH2):c.2129G>A (p.Gly710Asp)
|
rs2116954244
|
|
NM_000238.4(KCNH2):c.212G>A (p.Gly71Glu)
|
rs886039183
|
|
NM_000238.4(KCNH2):c.2134G>A (p.Asp712Asn)
|
|
|
NM_000238.4(KCNH2):c.2134G>T (p.Asp712Tyr)
|
|
|
NM_000238.4(KCNH2):c.2135A>G (p.Asp712Gly)
|
rs2116954162
|
|
NM_000238.4(KCNH2):c.2138T>C (p.Met713Thr)
|
|
|
NM_000238.4(KCNH2):c.2145+10C>G
|
rs746696683
|
|
NM_000238.4(KCNH2):c.2145+11C>G
|
|
|
NM_000238.4(KCNH2):c.2145+15_2145+16delinsTT
|
rs2116953868
|
|
NM_000238.4(KCNH2):c.2145+1G>A
|
rs886039385
|
|
NM_000238.4(KCNH2):c.2145+5G>C
|
rs1801125030
|
|
NM_000238.4(KCNH2):c.2145+6G>T
|
|
|
NM_000238.4(KCNH2):c.2145G>A (p.Ala715=)
|
rs794728384
|
|
NM_000238.4(KCNH2):c.2146-14C>G
|
rs971275958
|
|
NM_000238.4(KCNH2):c.2146-17C>T
|
|
|
NM_000238.4(KCNH2):c.2146-1G>C
|
|
|
NM_000238.4(KCNH2):c.2146-3_2146-1delinsAA
|
rs1554425320
|
|
NM_000238.4(KCNH2):c.2146-5C>A
|
rs2116951052
|
|
NM_000238.4(KCNH2):c.2146-8G>A
|
|
|
NM_000238.4(KCNH2):c.2146-9T>C
|
|
|
NM_000238.4(KCNH2):c.214C>T (p.Pro72Ser)
|
rs794728411
|
|
NM_000238.4(KCNH2):c.2156dup (p.Phe720fs)
|
|
|
NM_000238.4(KCNH2):c.2157C>T (p.Gly719=)
|
rs748506070
|
|
NM_000238.4(KCNH2):c.2159dup (p.Pro721_Glu722insTer)
|
|
|
NM_000238.4(KCNH2):c.215C>A (p.Pro72Gln)
|
rs199473421
|
|
NM_000238.4(KCNH2):c.215C>G (p.Pro72Arg)
|
rs199473421
|
|
NM_000238.4(KCNH2):c.215C>T (p.Pro72Leu)
|
rs199473421
|
|
NM_000238.4(KCNH2):c.2162C>T (p.Pro721Leu)
|
rs199472986
|
|
NM_000238.4(KCNH2):c.2162_2163del (p.Pro721fs)
|
|
|
NM_000238.4(KCNH2):c.2171T>C (p.Leu724Pro)
|
rs1554425307
|
|
NM_000238.4(KCNH2):c.2174A>C (p.Gln725Pro)
|
rs1401141040
|
|
NM_000238.4(KCNH2):c.2180_2317del (p.Asp727_Ala772del)
|
rs1554425226
|
|
NM_000238.4(KCNH2):c.2182A>T (p.Ile728Phe)
|
rs199473533
|
|
NM_000238.4(KCNH2):c.2192A>C (p.His731Pro)
|
rs794728385
|
|
NM_000238.4(KCNH2):c.219C>A (p.Arg73=)
|
rs761494105
|
|
NM_000238.4(KCNH2):c.21C>T (p.His7=)
|
|
|
NM_000238.4(KCNH2):c.2204C>T (p.Ser735Leu)
|
rs199472988
|
|
NM_000238.4(KCNH2):c.2206C>T (p.Leu736=)
|
rs1554425294
|
|
NM_000238.4(KCNH2):c.2207T>C (p.Leu736Pro)
|
|
|
NM_000238.4(KCNH2):c.220A>G (p.Thr74Ala)
|
rs199473666
|
|
NM_000238.4(KCNH2):c.220_233del (p.Thr74fs)
|
rs2117062748
|
|
NM_000238.4(KCNH2):c.2218dup (p.Cys740fs)
|
rs1554425284
|
|
NM_000238.4(KCNH2):c.221C>G (p.Thr74Arg)
|
rs199473422
|
|
NM_000238.4(KCNH2):c.221C>T (p.Thr74Met)
|
rs199473422
|
|
NM_000238.4(KCNH2):c.221_242del (p.Thr74fs)
|
rs1389503709
|
|
NM_000238.4(KCNH2):c.221_251del (p.Thr74fs)
|
rs1554430908
|
|
NM_000238.4(KCNH2):c.2221A>C (p.Lys741Gln)
|
rs1801092981
|
|
NM_000238.4(KCNH2):c.222G>C (p.Thr74=)
|
|
|
NM_000238.4(KCNH2):c.2230C>G (p.Arg744Gly)
|
rs189014161
|
|
NM_000238.4(KCNH2):c.2230C>T (p.Arg744Ter)
|
rs189014161
|
|
NM_000238.4(KCNH2):c.2231G>C (p.Arg744Pro)
|
rs1264176305
|
|
NM_000238.4(KCNH2):c.223C>G (p.Gln75Glu)
|
rs1801933977
|
|
NM_000238.4(KCNH2):c.2243A>G (p.Lys748Arg)
|
|
|
NM_000238.4(KCNH2):c.2244G>A (p.Lys748=)
|
|
|
NM_000238.4(KCNH2):c.2250C>T (p.Cys750=)
|
rs2116950050
|
|
NM_000238.4(KCNH2):c.2253T>A (p.Leu751=)
|
rs1436763090
|
|
NM_000238.4(KCNH2):c.2256G>C (p.Arg752=)
|
|
|
NM_000238.4(KCNH2):c.2257del (p.Ala753fs)
|
rs1584850710
|
|
NM_000238.4(KCNH2):c.225G>A (p.Gln75=)
|
|
|
NM_000238.4(KCNH2):c.2269A>G (p.Lys757Glu)
|
rs2116949798
|
|
NM_000238.4(KCNH2):c.2285_2286del (p.His762fs)
|
rs1801088980
|
|
NM_000238.4(KCNH2):c.2289_2290dup (p.Pro764fs)
|
|
|
NM_000238.4(KCNH2):c.2290C>T (p.Pro764Ser)
|
|
|
NM_000238.4(KCNH2):c.2291C>G (p.Pro764Arg)
|
rs878853773
|
|
NM_000238.4(KCNH2):c.2292G>T (p.Pro764=)
|
rs766291953
|
|
NM_000238.4(KCNH2):c.2298G>A (p.Gly766=)
|
|
|
NM_000238.4(KCNH2):c.2304A>G (p.Thr768=)
|
rs2116949473
|
|
NM_000238.4(KCNH2):c.2304_2305dup (p.Leu769fs)
|
|
|
NM_000238.4(KCNH2):c.2310G>A (p.Val770=)
|
rs1584850538
|
|
NM_000238.4(KCNH2):c.2312A>C (p.His771Pro)
|
rs1060500659
|
|
NM_000238.4(KCNH2):c.2312A>G (p.His771Arg)
|
rs1060500659
|
|
NM_000238.4(KCNH2):c.2313T>C (p.His771=)
|
rs2116949373
|
|
NM_000238.4(KCNH2):c.2320G>T (p.Asp774Tyr)
|
rs199472995
|
|
NM_000238.4(KCNH2):c.2321A>T (p.Asp774Val)
|
rs2116949301
|
|
NM_000238.4(KCNH2):c.2326C>G (p.Leu776Val)
|
|
|
NM_000238.4(KCNH2):c.2328C>T (p.Leu776=)
|
|
|
NM_000238.4(KCNH2):c.233C>T (p.Ala78Val)
|
rs1801933488
|
|
NM_000238.4(KCNH2):c.2343C>T (p.Phe781=)
|
rs886039215
|
|
NM_000238.4(KCNH2):c.2348C>A (p.Ser783Tyr)
|
|
|
NM_000238.4(KCNH2):c.234_250dup (p.Gln84fs)
|
rs1584883087
|
|
NM_000238.4(KCNH2):c.2351G>A (p.Arg784Gln)
|
|
|
NM_000238.4(KCNH2):c.2351G>C (p.Arg784Pro)
|
|
|
NM_000238.4(KCNH2):c.2351_2352inv (p.Arg784Pro)
|
|
|
NM_000238.4(KCNH2):c.2353G>A (p.Gly785Ser)
|
|
|
NM_000238.4(KCNH2):c.235G>A (p.Ala79Thr)
|
rs794728494
|
|
NM_000238.4(KCNH2):c.235G>T (p.Ala79Ser)
|
rs794728494
|
|
NM_000238.4(KCNH2):c.2360T>A (p.Ile787Asn)
|
rs794728387
|
|
NM_000238.4(KCNH2):c.2362G>A (p.Glu788Lys)
|
rs199472997
|
|
NM_000238.4(KCNH2):c.2364G>C (p.Glu788Asp)
|
rs199473535
|
|
NM_000238.4(KCNH2):c.2364_2365dup (p.Ile789fs)
|
rs1060500662
|
|
NM_000238.4(KCNH2):c.2365A>T (p.Ile789Phe)
|
|
|
NM_000238.4(KCNH2):c.2366T>C (p.Ile789Thr)
|
rs794728388
|
|
NM_000238.4(KCNH2):c.2369T>C (p.Leu790Pro)
|
rs1801084514
|
|
NM_000238.4(KCNH2):c.237C>A (p.Ala79=)
|
rs1060503994
|
|
NM_000238.4(KCNH2):c.237C>G (p.Ala79=)
|
rs1060503994
|
|
NM_000238.4(KCNH2):c.2382C>A (p.Val794=)
|
|
|
NM_000238.4(KCNH2):c.2386G>A (p.Val796Met)
|
rs143335921
|
|
NM_000238.4(KCNH2):c.2386G>C (p.Val796Leu)
|
rs143335921
|
|
NM_000238.4(KCNH2):c.2386G>T (p.Val796Leu)
|
rs143335921
|
|
NM_000238.4(KCNH2):c.2387T>G (p.Val796Gly)
|
rs1554425163
|
|
NM_000238.4(KCNH2):c.238G>T (p.Ala80Ser)
|
|
|
NM_000238.4(KCNH2):c.2397G>C (p.Leu799=)
|
|
|
NM_000238.4(KCNH2):c.2398+10G>A
|
rs750281789
|
|
NM_000238.4(KCNH2):c.2398+15G>A
|
|
|
NM_000238.4(KCNH2):c.2398+17G>A
|
rs1224163933
|
|
NM_000238.4(KCNH2):c.2398+1G>T
|
rs794728391
|
|
NM_000238.4(KCNH2):c.2398+3A>G
|
rs1554425151
|
|
NM_000238.4(KCNH2):c.2398+3_2398+4del
|
rs2116948300
|
|
NM_000238.4(KCNH2):c.2398+4T>C
|
rs1057520559
|
|
NM_000238.4(KCNH2):c.2398+4T>G
|
|
|
NM_000238.4(KCNH2):c.2398+5G>T
|
rs1554425149
|
|
NM_000238.4(KCNH2):c.2398_2398+21del
|
|
|
NM_000238.4(KCNH2):c.2399-108_2488del
|
rs2116940777
|
|
NM_000238.4(KCNH2):c.2399-11A>G
|
rs572515767
|
|
NM_000238.4(KCNH2):c.2399-15C>G
|
rs1246466836
|
|
NM_000238.4(KCNH2):c.2399-15C>T
|
|
|
NM_000238.4(KCNH2):c.2399-22_2399-12del
|
|
|
NM_000238.4(KCNH2):c.2399-28A>T
|
rs2116941690
|
|
NM_000238.4(KCNH2):c.2399-2A>G
|
|
|
NM_000238.4(KCNH2):c.2399-6C>T
|
|
|
NM_000238.4(KCNH2):c.2399-8G>A
|
rs2116941591
|
|
NM_000238.4(KCNH2):c.2399G>C (p.Gly800Ala)
|
|
|
NM_000238.4(KCNH2):c.239C>G (p.Ala80Gly)
|
|
|
NM_000238.4(KCNH2):c.2405A>G (p.Asn802Ser)
|
rs863224632
|
|
NM_000238.4(KCNH2):c.2407_2409del (p.Asp803del)
|
rs1801033638
|
|
NM_000238.4(KCNH2):c.240G>A (p.Ala80=)
|
rs1554430915
|
|
NM_000238.4(KCNH2):c.240G>T (p.Ala80=)
|
rs1554430915
|
|
NM_000238.4(KCNH2):c.2414T>G (p.Phe805Cys)
|
rs199472999
|
|
NM_000238.4(KCNH2):c.2417G>A (p.Gly806Glu)
|
rs199473000
|
|
NM_000238.4(KCNH2):c.2419G>A (p.Glu807Lys)
|
rs2116941364
|
|
NM_000238.4(KCNH2):c.241C>G (p.Gln81Glu)
|
|
|
NM_000238.4(KCNH2):c.2425C>T (p.Leu809=)
|
rs761112618
|
|
NM_000238.4(KCNH2):c.2430C>T (p.Asn810=)
|
|
|
NM_000238.4(KCNH2):c.2433G>A (p.Leu811=)
|
rs1801032409
|
|
NM_000238.4(KCNH2):c.2436T>A (p.Tyr812Ter)
|
rs1801032151
|
|
NM_000238.4(KCNH2):c.2438C>G (p.Ala813Gly)
|
|
|
NM_000238.4(KCNH2):c.243G>A (p.Gln81=)
|
rs199472849
|
|
NM_000238.4(KCNH2):c.243G>C (p.Gln81His)
|
rs199472849
|
|
NM_000238.4(KCNH2):c.2442_2451del (p.Arg814fs)
|
rs1554424849
|
|
NM_000238.4(KCNH2):c.2443C>G (p.Pro815Ala)
|
|
|
NM_000238.4(KCNH2):c.2448C>G (p.Gly816=)
|
rs41311000
|
|
NM_000238.4(KCNH2):c.244_252dup (p.Gln84_Ala85insIleAlaGln)
|
rs794728476
|
|
NM_000238.4(KCNH2):c.2453C>T (p.Ser818Leu)
|
rs121912510
|
|
NM_000238.4(KCNH2):c.2454G>C (p.Ser818=)
|
rs72549418
|
|
NM_000238.4(KCNH2):c.2457C>G (p.Asn819Lys)
|
rs768725008
|
|
NM_000238.4(KCNH2):c.2458G>C (p.Gly820Arg)
|
|
|
NM_000238.4(KCNH2):c.2458_2459insTGTATGCAAGGGCCT (p.Gly820delinsValTyrAlaArgAlaTrp)
|
rs2116941053
|
|
NM_000238.4(KCNH2):c.245T>C (p.Ile82Thr)
|
rs1563189895
|
|
NM_000238.4(KCNH2):c.2462A>T (p.Asp821Val)
|
rs2116941006
|
|
NM_000238.4(KCNH2):c.2463T>C (p.Asp821=)
|
rs1460365886
|
|
NM_000238.4(KCNH2):c.2464G>A (p.Val822Met)
|
rs121912506
|
|
NM_000238.4(KCNH2):c.2468G>A (p.Arg823Gln)
|
rs1064793147
|
|
NM_000238.4(KCNH2):c.2468G>C (p.Arg823Pro)
|
rs1064793147
|
|
NM_000238.4(KCNH2):c.2468G>T (p.Arg823Leu)
|
|
|
NM_000238.4(KCNH2):c.246C>G (p.Ile82Met)
|
|
|
NM_000238.4(KCNH2):c.246C>T (p.Ile82=)
|
rs974990528
|
|
NM_000238.4(KCNH2):c.2470del (p.Ala824fs)
|
rs1064793434
|
|
NM_000238.4(KCNH2):c.2472C>T (p.Ala824=)
|
|
|
NM_000238.4(KCNH2):c.2478C>T (p.Thr826=)
|
rs757036802
|
|
NM_000238.4(KCNH2):c.247G>T (p.Ala83Ser)
|
rs1554430909
|
|
NM_000238.4(KCNH2):c.2482T>A (p.Cys828Ser)
|
|
|
NM_000238.4(KCNH2):c.2482T>C (p.Cys828Arg)
|
rs1801029729
|
|
NM_000238.4(KCNH2):c.2488C>G (p.Leu830Val)
|
|
|
NM_000238.4(KCNH2):c.2500C>T (p.His834Tyr)
|
rs1801029078
|
|
NM_000238.4(KCNH2):c.2508C>G (p.Asp836Glu)
|
|
|
NM_000238.4(KCNH2):c.2508C>T (p.Asp836=)
|
rs139295242
|
|
NM_000238.4(KCNH2):c.2509G>A (p.Asp837Asn)
|
rs199473005
|
|
NM_000238.4(KCNH2):c.2510A>G (p.Asp837Gly)
|
rs199473004
|
|
NM_000238.4(KCNH2):c.2515C>A (p.Leu839Met)
|
rs1801028129
|
|
NM_000238.4(KCNH2):c.2517G>A (p.Leu839=)
|
|
|
NM_000238.4(KCNH2):c.2521G>T (p.Val841Leu)
|
|
|
NM_000238.4(KCNH2):c.2524C>G (p.Leu842Val)
|
rs2116940520
|
|
NM_000238.4(KCNH2):c.2525T>C (p.Leu842Pro)
|
rs1554424818
|
|
NM_000238.4(KCNH2):c.252G>A (p.Gln84=)
|
rs770232755
|
|
NM_000238.4(KCNH2):c.2531T>G (p.Met844Arg)
|
|
|
NM_000238.4(KCNH2):c.2534_2541del (p.Tyr845fs)
|
|
|
NM_000238.4(KCNH2):c.2535C>T (p.Tyr845=)
|
rs111531831
|
|
NM_000238.4(KCNH2):c.2536C>T (p.Pro846Ser)
|
rs199473006
|
|
NM_000238.4(KCNH2):c.2536_2537del (p.Tyr845_Pro846insTer)
|
rs2116940397
|
|
NM_000238.4(KCNH2):c.2537C>T (p.Pro846Leu)
|
rs1060500669
|
|
NM_000238.4(KCNH2):c.253G>A (p.Ala85Thr)
|
rs199472850
|
|
NM_000238.4(KCNH2):c.2547C>G (p.Ser849=)
|
|
|
NM_000238.4(KCNH2):c.2548G>C (p.Asp850His)
|
|
|
NM_000238.4(KCNH2):c.2555del (p.Phe852fs)
|
rs2116940243
|
|
NM_000238.4(KCNH2):c.2559G>A (p.Trp853Ter)
|
rs2116940231
|
|
NM_000238.4(KCNH2):c.255A>C (p.Ala85=)
|
|
|
NM_000238.4(KCNH2):c.2562C>T (p.Ser854=)
|
rs897540177
|
|
NM_000238.4(KCNH2):c.2564G>A (p.Ser855Asn)
|
rs2116940209
|
|
NM_000238.4(KCNH2):c.2574C>T (p.Ile858=)
|
|
|
NM_000238.4(KCNH2):c.2577C>A (p.Thr859=)
|
rs1060503993
|
|
NM_000238.4(KCNH2):c.2577C>T (p.Thr859=)
|
|
|
NM_000238.4(KCNH2):c.257T>C (p.Leu86Pro)
|
rs199472851
|
|
NM_000238.4(KCNH2):c.2582A>T (p.Asn861Ile)
|
rs121912513
|
|
NM_000238.4(KCNH2):c.2584C>T (p.Leu862=)
|
rs1554424783
|
|
NM_000238.4(KCNH2):c.2589A>G (p.Arg863=)
|
rs1036535206
|
|
NM_000238.4(KCNH2):c.258G>C (p.Leu86=)
|
rs1801931669
|
|
NM_000238.4(KCNH2):c.258G>T (p.Leu86=)
|
rs1801931669
|
|
NM_000238.4(KCNH2):c.2591A>G (p.Asp864Gly)
|
rs199473008
|
|
NM_000238.4(KCNH2):c.2592+16T>A
|
|
|
NM_000238.4(KCNH2):c.2592+17G>A
|
|
|
NM_000238.4(KCNH2):c.2592+1G>A
|
rs1554424772
|
|
NM_000238.4(KCNH2):c.2592+3G>A
|
rs906562788
|
|
NM_000238.4(KCNH2):c.2592+8G>A
|
|
|
NM_000238.4(KCNH2):c.2592+9G>A
|
|
|
NM_000238.4(KCNH2):c.2592T>C (p.Asp864=)
|
rs2116939952
|
|
NM_000238.4(KCNH2):c.2593-17A>G
|
|
|
NM_000238.4(KCNH2):c.2593-17_2593-16insAA
|
|
|
NM_000238.4(KCNH2):c.2593-1G>C
|
|
|
NM_000238.4(KCNH2):c.2593-7G>A
|
rs1217547849
|
|
NM_000238.4(KCNH2):c.2593-9del
|
|
|
NM_000238.4(KCNH2):c.2594C>T (p.Thr865Ile)
|
rs768059097
|
|
NM_000238.4(KCNH2):c.2607G>T (p.Pro869=)
|
rs199828796
|
|
NM_000238.4(KCNH2):c.2610C>G (p.Gly870=)
|
rs2116938469
|
|
NM_000238.4(KCNH2):c.2616C>A (p.Pro872=)
|
rs374296728
|
|
NM_000238.4(KCNH2):c.2616dup (p.Gly873fs)
|
rs1584847173
|
|
NM_000238.4(KCNH2):c.2617G>C (p.Gly873Arg)
|
|
|
NM_000238.4(KCNH2):c.2624C>G (p.Thr875Arg)
|
rs140743924
|
|
NM_000238.4(KCNH2):c.2626G>A (p.Glu876Lys)
|
rs1554424688
|
|
NM_000238.4(KCNH2):c.2626G>T (p.Glu876Ter)
|
rs1554424688
|
|
NM_000238.4(KCNH2):c.2628G>A (p.Glu876=)
|
|
|
NM_000238.4(KCNH2):c.2631A>G (p.Leu877=)
|
rs1182206044
|
|
NM_000238.4(KCNH2):c.2634G>A (p.Glu878=)
|
rs1463041004
|
|
NM_000238.4(KCNH2):c.2634G>T (p.Glu878Asp)
|
rs1463041004
|
|
NM_000238.4(KCNH2):c.2634_2643del (p.Gly879fs)
|
rs1801008727
|
|
NM_000238.4(KCNH2):c.2636G>A (p.Gly879Asp)
|
rs2116938251
|
|
NM_000238.4(KCNH2):c.2639G>A (p.Gly880Asp)
|
|
|
NM_000238.4(KCNH2):c.2641_2646del (p.Phe881_Ser882del)
|
|
|
NM_000238.4(KCNH2):c.2645_2656del (p.Ser882_Arg885del)
|
|
|
NM_000238.4(KCNH2):c.2647C>A (p.Arg883=)
|
rs201765446
|
|
NM_000238.4(KCNH2):c.2647C>T (p.Arg883Trp)
|
rs201765446
|
|
NM_000238.4(KCNH2):c.2648_2652dup (p.Arg885fs)
|
|
|
NM_000238.4(KCNH2):c.2653C>A (p.Arg885Ser)
|
rs143512106
|
|
NM_000238.4(KCNH2):c.2653C>T (p.Arg885Cys)
|
rs143512106
|
|
NM_000238.4(KCNH2):c.2653_2657del (p.Arg885fs)
|
rs1801007403
|
|
NM_000238.4(KCNH2):c.2654G>A (p.Arg885His)
|
rs202194495
|
|
NM_000238.4(KCNH2):c.2657dup (p.Arg887fs)
|
rs1554424671
|
|
NM_000238.4(KCNH2):c.2658_2659delinsAA (p.Arg887Ser)
|
|
|
NM_000238.4(KCNH2):c.2659C>G (p.Arg887Gly)
|
rs140279503
|
|
NM_000238.4(KCNH2):c.2661C>A (p.Arg887=)
|
|
|
NM_000238.4(KCNH2):c.2665_2691del (p.Leu889_Lys897del)
|
|
|
NM_000238.4(KCNH2):c.2669C>G (p.Ser890Cys)
|
|
|
NM_000238.4(KCNH2):c.2670C>G (p.Ser890=)
|
|
|
NM_000238.4(KCNH2):c.2674C>A (p.Arg892Ser)
|
rs201627778
|
|
NM_000238.4(KCNH2):c.2674C>G (p.Arg892Gly)
|
|
|
NM_000238.4(KCNH2):c.2675G>T (p.Arg892Leu)
|
rs774216337
|
|
NM_000238.4(KCNH2):c.2675_2679dup (p.Arg894fs)
|
rs1131692183
|
|
NM_000238.4(KCNH2):c.2676_2680dup (p.Arg894fs)
|
rs2116937619
|
|
NM_000238.4(KCNH2):c.2677A>C (p.Arg893=)
|
|
|
NM_000238.4(KCNH2):c.2677_2680dup (p.Arg894fs)
|
rs1385959174
|
|
NM_000238.4(KCNH2):c.2678G>A (p.Arg893Lys)
|
rs1801005127
|
|
NM_000238.4(KCNH2):c.2678_2683del (p.Arg893_Arg894del)
|
|
|
NM_000238.4(KCNH2):c.2679G>A (p.Arg893=)
|
rs1584846932
|
|
NM_000238.4(KCNH2):c.267C>G (p.Ala89=)
|
rs771100245
|
|
NM_000238.4(KCNH2):c.267C>T (p.Ala89=)
|
|
|
NM_000238.4(KCNH2):c.2681G>T (p.Arg894Leu)
|
rs199473668
|
|
NM_000238.4(KCNH2):c.2682C>T (p.Arg894=)
|
rs1801004397
|
|
NM_000238.4(KCNH2):c.2682_2685dup (p.Asp896fs)
|
rs2116937449
|
|
NM_000238.4(KCNH2):c.2684C>G (p.Thr895Arg)
|
rs199473434
|
|
NM_000238.4(KCNH2):c.2684del (p.Thr895fs)
|
rs2116937500
|
|
NM_000238.4(KCNH2):c.268G>C (p.Glu90Gln)
|
|
|
NM_000238.4(KCNH2):c.268G>T (p.Glu90Ter)
|
|
|
NM_000238.4(KCNH2):c.2690A>T (p.Lys897Met)
|
rs1805123
|
|
NM_000238.4(KCNH2):c.2690_2691delinsCA (p.Lys897Thr)
|
|
|
NM_000238.4(KCNH2):c.2690_2691delinsCC (p.Lys897Thr)
|
|
|
NM_000238.4(KCNH2):c.2690delinsCGACAC (p.Lys897fs)
|
rs1584846819
|
|
NM_000238.4(KCNH2):c.2692+12G>T
|
|
|
NM_000238.4(KCNH2):c.2692+17_2692+31del
|
|
|
NM_000238.4(KCNH2):c.2692+18A>G
|
rs964660781
|
|
NM_000238.4(KCNH2):c.2692+20G>T
|
|
|
NM_000238.4(KCNH2):c.2692+21_2692+47del
|
|
|
NM_000238.4(KCNH2):c.2692+2_2692+25dup
|
|
|
NM_000238.4(KCNH2):c.2692+4A>G
|
rs1359821930
|
|
NM_000238.4(KCNH2):c.2692+7C>G
|
rs372023163
|
|
NM_000238.4(KCNH2):c.2692+8G>A
|
rs200032281
|
|
NM_000238.4(KCNH2):c.2692+8G>C
|
rs200032281
|
|
NM_000238.4(KCNH2):c.2692+9G>A
|
|
|
NM_000238.4(KCNH2):c.2693-4A>C
|
rs1800976590
|
|
NM_000238.4(KCNH2):c.2695A>T (p.Thr899Ser)
|
rs1800976319
|
|
NM_000238.4(KCNH2):c.2696C>A (p.Thr899Lys)
|
rs1480554629
|
|
NM_000238.4(KCNH2):c.2696C>G (p.Thr899Arg)
|
rs1480554629
|
|
NM_000238.4(KCNH2):c.2697G>A (p.Thr899=)
|
rs1171773594
|
|
NM_000238.4(KCNH2):c.2698G>A (p.Glu900Lys)
|
|
|
NM_000238.4(KCNH2):c.2698_2748dup (p.Glu900_Gly916dup)
|
rs1800972122
|
|
NM_000238.4(KCNH2):c.2698dup (p.Glu900fs)
|
|
|
NM_000238.4(KCNH2):c.269A>G (p.Glu90Gly)
|
|
|
NM_000238.4(KCNH2):c.2702A>G (p.Gln901Arg)
|
rs1800975753
|
|
NM_000238.4(KCNH2):c.2704C>T (p.Pro902Ser)
|
|
|
NM_000238.4(KCNH2):c.2705C>T (p.Pro902Leu)
|
|
|
NM_000238.4(KCNH2):c.2707G>C (p.Gly903Arg)
|
rs199473669
|
|
NM_000238.4(KCNH2):c.270G>A (p.Glu90=)
|
rs2117062411
|
|
NM_000238.4(KCNH2):c.2711A>G (p.Glu904Gly)
|
rs794727044
|
|
NM_000238.4(KCNH2):c.2718G>A (p.Ser906=)
|
|
|
NM_000238.4(KCNH2):c.2719G>A (p.Ala907Thr)
|
rs752686806
|
|
NM_000238.4(KCNH2):c.2719G>T (p.Ala907Ser)
|
rs752686806
|
|
NM_000238.4(KCNH2):c.2721C>T (p.Ala907=)
|
rs1800974519
|
|
NM_000238.4(KCNH2):c.2724_2728dup (p.Pro910fs)
|
rs794728449
|
|
NM_000238.4(KCNH2):c.2729_2744del (p.Pro910fs)
|
|
|
NM_000238.4(KCNH2):c.272A>T (p.Glu91Val)
|
rs1299190345
|
|
NM_000238.4(KCNH2):c.2730G>C (p.Pro910=)
|
|
|
NM_000238.4(KCNH2):c.2734C>G (p.Arg912Gly)
|
|
|
NM_000238.4(KCNH2):c.2734_2738del (p.Arg912fs)
|
rs794728502
|
|
NM_000238.4(KCNH2):c.2743del (p.Ala915fs)
|
rs2116933842
|
|
NM_000238.4(KCNH2):c.2744_2773del (p.Ala915_Gly924del)
|
rs1800969436
|
|
NM_000238.4(KCNH2):c.2748G>A (p.Gly916=)
|
|
|
NM_000238.4(KCNH2):c.2748_2766del (p.Pro917fs)
|
|
|
NM_000238.4(KCNH2):c.2757C>T (p.Ser919=)
|
rs2116933746
|
|
NM_000238.4(KCNH2):c.2758C>G (p.Arg920Gly)
|
rs199473438
|
|
NM_000238.4(KCNH2):c.2758C>T (p.Arg920Trp)
|
rs199473438
|
|
NM_000238.4(KCNH2):c.275G>C (p.Arg92Pro)
|
rs794728413
|
|
NM_000238.4(KCNH2):c.2760G>C (p.Arg920=)
|
rs1800971378
|
|
NM_000238.4(KCNH2):c.2762del (p.Gly921fs)
|
rs1584845263
|
|
NM_000238.4(KCNH2):c.2762dup (p.Arg922fs)
|
|
|
NM_000238.4(KCNH2):c.2763_2772del (p.Arg922fs)
|
rs1554424390
|
|
NM_000238.4(KCNH2):c.2765G>C (p.Arg922Pro)
|
|
|
NM_000238.4(KCNH2):c.2767_2770dup (p.Gly924fs)
|
rs1800970116
|
|
NM_000238.4(KCNH2):c.2768C>A (p.Pro923Gln)
|
rs760408746
|
|
NM_000238.4(KCNH2):c.2768C>T (p.Pro923Leu)
|
rs760408746
|
|
NM_000238.4(KCNH2):c.2769G>C (p.Pro923=)
|
rs557789224
|
|
NM_000238.4(KCNH2):c.2769G>T (p.Pro923=)
|
rs557789224
|
|
NM_000238.4(KCNH2):c.2770G>A (p.Gly924Arg)
|
rs794728397
|
|
NM_000238.4(KCNH2):c.2770_2778dup (p.Pro926_Trp927insGlyGlyPro)
|
|
|
NM_000238.4(KCNH2):c.2771G>A (p.Gly924Glu)
|
rs199473009
|
|
NM_000238.4(KCNH2):c.2771G>C (p.Gly924Ala)
|
rs199473009
|
|
NM_000238.4(KCNH2):c.2771G>T (p.Gly924Val)
|
|
|
NM_000238.4(KCNH2):c.2774G>A (p.Gly925Glu)
|
rs794728398
|
|
NM_000238.4(KCNH2):c.2774G>C (p.Gly925Ala)
|
rs794728398
|
|
NM_000238.4(KCNH2):c.2774G>T (p.Gly925Val)
|
rs794728398
|
|
NM_000238.4(KCNH2):c.2774_2775delinsTT (p.Gly925Val)
|
rs2116933373
|
|
NM_000238.4(KCNH2):c.2775del (p.Pro926fs)
|
rs794728455
|
|
NM_000238.4(KCNH2):c.2775dup (p.Pro926fs)
|
rs794728455
|
|
NM_000238.4(KCNH2):c.2776C>T (p.Pro926Ser)
|
|
|
NM_000238.4(KCNH2):c.2776_2784dup (p.Pro926_Gly928dup)
|
rs1237412972
|
|
NM_000238.4(KCNH2):c.2777del (p.Pro926fs)
|
rs794728456
|
|
NM_000238.4(KCNH2):c.2778G>T (p.Pro926=)
|
rs898987242
|
|
NM_000238.4(KCNH2):c.2780G>A (p.Trp927Ter)
|
rs794728399
|
|
NM_000238.4(KCNH2):c.2781G>T (p.Trp927Cys)
|
rs866768546
|
|
NM_000238.4(KCNH2):c.2782G>C (p.Gly928Arg)
|
|
|
NM_000238.4(KCNH2):c.2782G>T (p.Gly928Trp)
|
|
|
NM_000238.4(KCNH2):c.2785del (p.Glu929fs)
|
rs794728458
|
|
NM_000238.4(KCNH2):c.2785dup (p.Glu929fs)
|
rs794728458
|
|
NM_000238.4(KCNH2):c.2789G>T (p.Ser930Ile)
|
|
|
NM_000238.4(KCNH2):c.278A>G (p.Lys93Arg)
|
rs780197027
|
|
NM_000238.4(KCNH2):c.2792C>A (p.Pro931Gln)
|
|
|
NM_000238.4(KCNH2):c.2792C>G (p.Pro931Arg)
|
rs749759697
|
|
NM_000238.4(KCNH2):c.2795C>T (p.Ser932Phe)
|
rs1800966447
|
|
NM_000238.4(KCNH2):c.2796C>T (p.Ser932=)
|
|
|
NM_000238.4(KCNH2):c.279A>G (p.Lys93=)
|
rs2117062320
|
|
NM_000238.4(KCNH2):c.27G>A (p.Ala9=)
|
|
|
NM_000238.4(KCNH2):c.27G>C (p.Ala9=)
|
rs863224336
|
|
NM_000238.4(KCNH2):c.2800G>T (p.Gly934Cys)
|
|
|
NM_000238.4(KCNH2):c.2802C>G (p.Gly934=)
|
rs780308005
|
|
NM_000238.4(KCNH2):c.2804C>A (p.Pro935His)
|
|
|
NM_000238.4(KCNH2):c.2808C>T (p.Ser936=)
|
rs1057520290
|
|
NM_000238.4(KCNH2):c.280G>A (p.Val94Met)
|
rs756115394
|
|
NM_000238.4(KCNH2):c.280G>C (p.Val94Leu)
|
rs756115394
|
|
NM_000238.4(KCNH2):c.2811C>T (p.Ser937=)
|
|
|
NM_000238.4(KCNH2):c.281T>G (p.Val94Gly)
|
rs199472852
|
|
NM_000238.4(KCNH2):c.2833G>T (p.Gly945Cys)
|
rs1202588564
|
|
NM_000238.4(KCNH2):c.2834G>A (p.Gly945Asp)
|
|
|
NM_000238.4(KCNH2):c.2837C>T (p.Pro946Leu)
|
rs1800964240
|
|
NM_000238.4(KCNH2):c.2840G>A (p.Gly947Asp)
|
|
|
NM_000238.4(KCNH2):c.2840_2852del (p.Gly947fs)
|
|
|
NM_000238.4(KCNH2):c.2846G>T (p.Ser949Ile)
|
|
|
NM_000238.4(KCNH2):c.284A>C (p.Glu95Ala)
|
rs794728414
|
|
NM_000238.4(KCNH2):c.2850C>T (p.Ser950=)
|
rs2116932647
|
|
NM_000238.4(KCNH2):c.2853C>A (p.Ser951Arg)
|
rs1443792370
|
|
NM_000238.4(KCNH2):c.2855C>G (p.Pro952Arg)
|
rs765920319
|
|
NM_000238.4(KCNH2):c.2855C>T (p.Pro952Leu)
|
rs765920319
|
|
NM_000238.4(KCNH2):c.2857del (p.Leu953fs)
|
rs794728503
|
|
NM_000238.4(KCNH2):c.2868G>A (p.Val956=)
|
|
|
NM_000238.4(KCNH2):c.2876C>G (p.Ser959Cys)
|
rs1584844763
|
|
NM_000238.4(KCNH2):c.2876C>T (p.Ser959Phe)
|
rs1584844763
|
|
NM_000238.4(KCNH2):c.2880C>T (p.Ser960=)
|
rs2116932430
|
|
NM_000238.4(KCNH2):c.2888C>T (p.Pro963Leu)
|
|
|
NM_000238.4(KCNH2):c.2889C>G (p.Pro963=)
|
rs749814759
|
|
NM_000238.4(KCNH2):c.288C>A (p.Ile96=)
|
rs2117062260
|
|
NM_000238.4(KCNH2):c.288C>T (p.Ile96=)
|
rs2117062260
|
|
NM_000238.4(KCNH2):c.2890C>G (p.Pro964Ala)
|
rs886062087
|
|
NM_000238.4(KCNH2):c.2891C>G (p.Pro964Arg)
|
rs886427965
|
|
NM_000238.4(KCNH2):c.2891C>T (p.Pro964Leu)
|
rs886427965
|
|
NM_000238.4(KCNH2):c.2892C>G (p.Pro964=)
|
rs769972412
|
|
NM_000238.4(KCNH2):c.2892dup (p.Gly965fs)
|
rs794728462
|
|
NM_000238.4(KCNH2):c.2894del (p.Gly965fs)
|
|
|
NM_000238.4(KCNH2):c.2897_2898delinsCC (p.Glu966Ala)
|
rs2116932211
|
|
NM_000238.4(KCNH2):c.2899C>T (p.Pro967Ser)
|
rs1057450060
|
|
NM_000238.4(KCNH2):c.2900dup (p.Pro968fs)
|
rs786204101
|
|
NM_000238.4(KCNH2):c.2901G>C (p.Pro967=)
|
|
|
NM_000238.4(KCNH2):c.2901G>T (p.Pro967=)
|
rs780481239
|
|
NM_000238.4(KCNH2):c.2909G>A (p.Gly970Glu)
|
|
|
NM_000238.4(KCNH2):c.2910G>A (p.Gly970=)
|
rs2116932035
|
|
NM_000238.4(KCNH2):c.2911G>A (p.Glu971Lys)
|
|
|
NM_000238.4(KCNH2):c.2913G>A (p.Glu971=)
|
|
|
NM_000238.4(KCNH2):c.2914C>A (p.Pro972Thr)
|
|
|
NM_000238.4(KCNH2):c.2916C>T (p.Pro972=)
|
rs1800959026
|
|
NM_000238.4(KCNH2):c.2918del (p.Leu973fs)
|
rs1800958758
|
|
NM_000238.4(KCNH2):c.2919G>T (p.Leu973=)
|
rs2116931940
|
|
NM_000238.4(KCNH2):c.2922GGA[1] (p.Glu975del)
|
|
|
NM_000238.4(KCNH2):c.2925G>A (p.Glu975=)
|
rs1452843656
|
|
NM_000238.4(KCNH2):c.2926G>A (p.Asp976Asn)
|
rs1800958394
|
|
NM_000238.4(KCNH2):c.292_293delinsGC (p.Phe98Ala)
|
|
|
NM_000238.4(KCNH2):c.2931C>A (p.Cys977Ter)
|
rs761585108
|
|
NM_000238.4(KCNH2):c.2931_2932insCTGGAGGCCCTTCTCCAGCCCCAGGCCCCCCGGAGAGCCGCCGGGTGGGGAGCCCCTGATGGAGGACTGC (p.Glu978fs)
|
|
|
NM_000238.4(KCNH2):c.2931_2941dup (p.Ser981fs)
|
rs2116931753
|
|
NM_000238.4(KCNH2):c.2932G>C (p.Glu978Gln)
|
rs141117135
|
|
NM_000238.4(KCNH2):c.2934G>A (p.Glu978=)
|
rs2116931812
|
|
NM_000238.4(KCNH2):c.2937G>A (p.Lys979=)
|
rs2116931783
|
|
NM_000238.4(KCNH2):c.293T>G (p.Phe98Cys)
|
rs1801930040
|
|
NM_000238.4(KCNH2):c.2952C>T (p.Cys984=)
|
|
|
NM_000238.4(KCNH2):c.2954A>T (p.Asn985Ile)
|
|
|
NM_000238.4(KCNH2):c.2955C>T (p.Asn985=)
|
rs1584844286
|
|
NM_000238.4(KCNH2):c.2958C>T (p.Pro986=)
|
rs2116931525
|
|
NM_000238.4(KCNH2):c.2959C>T (p.Leu987=)
|
rs1800955984
|
|
NM_000238.4(KCNH2):c.2959_2960del (p.Leu987fs)
|
rs748706373
|
|
NM_000238.4(KCNH2):c.2960del (p.Leu987fs)
|
rs1800955789
|
|
NM_000238.4(KCNH2):c.2962T>G (p.Ser988Ala)
|
rs747237810
|
|
NM_000238.4(KCNH2):c.2965+10G>A
|
rs1419050750
|
|
NM_000238.4(KCNH2):c.2965+11C>A
|
|
|
NM_000238.4(KCNH2):c.2965+11_2965+12insAGG
|
rs1360166698
|
|
NM_000238.4(KCNH2):c.2965+13A>G
|
rs1434583260
|
|
NM_000238.4(KCNH2):c.2965+13_2965+17dup
|
|
|
NM_000238.4(KCNH2):c.2965+14_2965+24del
|
|
|
NM_000238.4(KCNH2):c.2965+15G>A
|
rs750330550
|
|
NM_000238.4(KCNH2):c.2965+15G>T
|
|
|
NM_000238.4(KCNH2):c.2965+19G>A
|
|
|
NM_000238.4(KCNH2):c.2965+8G>T
|
rs749079285
|
|
NM_000238.4(KCNH2):c.2966-20G>A
|
|
|
NM_000238.4(KCNH2):c.2966-2_2967dup
|
rs794728464
|
|
NM_000238.4(KCNH2):c.2966-4G>A
|
rs1252745863
|
|
NM_000238.4(KCNH2):c.2966-5T>C
|
rs2116930650
|
|
NM_000238.4(KCNH2):c.2967C>A (p.Gly989=)
|
rs759887868
|
|
NM_000238.4(KCNH2):c.2973C>G (p.Phe991Leu)
|
|
|
NM_000238.4(KCNH2):c.2976A>G (p.Ser992=)
|
rs2116930515
|
|
NM_000238.4(KCNH2):c.2979A>C (p.Gly993=)
|
rs2116930477
|
|
NM_000238.4(KCNH2):c.2984C>A (p.Ser995Tyr)
|
rs2116930440
|
|
NM_000238.4(KCNH2):c.2987A>G (p.Asn996Ser)
|
rs199473018
|
|
NM_000238.4(KCNH2):c.298C>T (p.Arg100Trp)
|
rs121912515
|
|
NM_000238.4(KCNH2):c.2991T>A (p.Ile997=)
|
|
|
NM_000238.4(KCNH2):c.2992T>G (p.Phe998Val)
|
|
|
NM_000238.4(KCNH2):c.2996G>C (p.Ser999Thr)
|
|
|
NM_000238.4(KCNH2):c.299G>A (p.Arg100Gln)
|
rs199472855
|
|
NM_000238.4(KCNH2):c.299G>T (p.Arg100Leu)
|
rs199472855
|
|
NM_000238.4(KCNH2):c.29C>A (p.Pro10Gln)
|
rs1383782501
|
|
NM_000238.4(KCNH2):c.29C>T (p.Pro10Leu)
|
rs1383782501
|
|
NM_000238.4(KCNH2):c.3002G>A (p.Trp1001Ter)
|
rs794728401
|
|
NM_000238.4(KCNH2):c.3003G>A (p.Trp1001Ter)
|
rs121912509
|
|
NM_000238.4(KCNH2):c.3007del (p.Asp1003fs)
|
rs1800946921
|
|
NM_000238.4(KCNH2):c.3007dup (p.Asp1003fs)
|
rs1800946921
|
|
NM_000238.4(KCNH2):c.300G>A (p.Arg100=)
|
|
|
NM_000238.4(KCNH2):c.300G>T (p.Arg100=)
|
rs761176105
|
|
NM_000238.4(KCNH2):c.3017del (p.Gly1006fs)
|
rs794728504
|
|
NM_000238.4(KCNH2):c.3018C>T (p.Gly1006=)
|
|
|
NM_000238.4(KCNH2):c.301A>G (p.Lys101Glu)
|
rs199472856
|
|
NM_000238.4(KCNH2):c.3020G>T (p.Arg1007Leu)
|
|
|
NM_000238.4(KCNH2):c.3022C>T (p.Gln1008Ter)
|
|
|
NM_000238.4(KCNH2):c.3024G>A (p.Gln1008=)
|
|
|
NM_000238.4(KCNH2):c.3027C>G (p.Tyr1009Ter)
|
rs1057520558
|
|
NM_000238.4(KCNH2):c.3032A>G (p.Glu1011Gly)
|
rs1800945318
|
|
NM_000238.4(KCNH2):c.3038C>G (p.Pro1013Arg)
|
rs2116929940
|
|
NM_000238.4(KCNH2):c.3039del (p.Arg1014fs)
|
rs2116929916
|
|
NM_000238.4(KCNH2):c.3041G>A (p.Arg1014Gln)
|
rs932335536
|
|
NM_000238.4(KCNH2):c.3043T>C (p.Cys1015Arg)
|
rs1800944925
|
|
NM_000238.4(KCNH2):c.3045C>T (p.Cys1015=)
|
rs1800944753
|
|
NM_000238.4(KCNH2):c.3049G>A (p.Ala1017Thr)
|
|
|
NM_000238.4(KCNH2):c.3051C>A (p.Ala1017=)
|
rs75488587
|
|
NM_000238.4(KCNH2):c.3051C>T (p.Ala1017=)
|
rs75488587
|
|
NM_000238.4(KCNH2):c.3054C>A (p.Pro1018=)
|
rs1452266394
|
|
NM_000238.4(KCNH2):c.3057C>T (p.Thr1019=)
|
rs41307277
|
|
NM_000238.4(KCNH2):c.3058C>G (p.Pro1020Ala)
|
|
|
NM_000238.4(KCNH2):c.305A>C (p.Asp102Ala)
|
rs199472857
|
|
NM_000238.4(KCNH2):c.3060del (p.Ser1021fs)
|
rs864622174
|
|
NM_000238.4(KCNH2):c.3061A>G (p.Ser1021Gly)
|
rs1563146032
|
|
NM_000238.4(KCNH2):c.3064CTC[1] (p.Leu1023del)
|
rs1212065784
|
|
NM_000238.4(KCNH2):c.307+10G>A
|
|
|
NM_000238.4(KCNH2):c.307+13C>G
|
|
|
NM_000238.4(KCNH2):c.307+13C>T
|
|
|
NM_000238.4(KCNH2):c.307+1del
|
rs2117062104
|
|
NM_000238.4(KCNH2):c.307+4G>A
|
rs751253233
|
|
NM_000238.4(KCNH2):c.307+7G>T
|
|
|
NM_000238.4(KCNH2):c.3070A>T (p.Asn1024Tyr)
|
rs1800941962
|
|
NM_000238.4(KCNH2):c.3071A>G (p.Asn1024Ser)
|
|
|
NM_000238.4(KCNH2):c.3076C>T (p.Pro1026Ser)
|
|
|
NM_000238.4(KCNH2):c.307_307+1delinsTT
|
rs1554430850
|
|
NM_000238.4(KCNH2):c.308-10C>T
|
rs2117012699
|
|
NM_000238.4(KCNH2):c.308-15C>T
|
|
|
NM_000238.4(KCNH2):c.308-18T>C
|
|
|
NM_000238.4(KCNH2):c.308-19A>G
|
|
|
NM_000238.4(KCNH2):c.308-2A>G
|
rs1057520598
|
|
NM_000238.4(KCNH2):c.308-377T>A
|
rs12668582
|
|
NM_000238.4(KCNH2):c.308-377T>G
|
rs12668582
|
|
NM_000238.4(KCNH2):c.308-378_308-377delinsTG
|
|
|
NM_000238.4(KCNH2):c.3086_3087dup (p.Pro1030fs)
|
rs2116929283
|
|
NM_000238.4(KCNH2):c.3086_3099del (p.Ser1029fs)
|
rs2116928923
|
|
NM_000238.4(KCNH2):c.3087_3092del (p.Pro1030_Gly1031del)
|
rs2116929131
|
|
NM_000238.4(KCNH2):c.3087_3096delinsGC (p.Ser1029fs)
|
rs1554424085
|
|
NM_000238.4(KCNH2):c.3089C>G (p.Pro1030Arg)
|
rs904066540
|
|
NM_000238.4(KCNH2):c.3090G>C (p.Pro1030=)
|
rs778604642
|
|
NM_000238.4(KCNH2):c.3090_3093dup (p.Arg1032fs)
|
rs1554424091
|
|
NM_000238.4(KCNH2):c.3090_3102del (p.Arg1032fs)
|
rs1554424070
|
|
NM_000238.4(KCNH2):c.3091_3096dup (p.Gly1031_Arg1032dup)
|
rs1563145780
|
|
NM_000238.4(KCNH2):c.3092_3096dup (p.Arg1033fs)
|
rs1554424083
|
|
NM_000238.4(KCNH2):c.3092del (p.Gly1031fs)
|
rs1800940404
|
|
NM_000238.4(KCNH2):c.3093_3106del (p.Pro1034fs)
|
rs1554424063
|
|
NM_000238.4(KCNH2):c.3094C>A (p.Arg1032=)
|
rs373394254
|
|
NM_000238.4(KCNH2):c.3094C>G (p.Arg1032Gly)
|
rs373394254
|
|
NM_000238.4(KCNH2):c.3094_3095dup (p.Arg1033fs)
|
|
|
NM_000238.4(KCNH2):c.3094del (p.Arg1032fs)
|
rs864622309
|
|
NM_000238.4(KCNH2):c.3096G>T (p.Arg1032=)
|
|
|
NM_000238.4(KCNH2):c.3096_3097delinsAT (p.Arg1033Trp)
|
|
|
NM_000238.4(KCNH2):c.3096_3099del (p.Arg1033fs)
|
rs794728467
|
|
NM_000238.4(KCNH2):c.3096_3099dup (p.Pro1034fs)
|
rs794728467
|
|
NM_000238.4(KCNH2):c.3097C>A (p.Arg1033=)
|
rs199473021
|
|
NM_000238.4(KCNH2):c.3097_3098dup (p.Pro1034fs)
|
rs1554424079
|
|
NM_000238.4(KCNH2):c.3097_3106dup (p.Gly1036fs)
|
rs2116928723
|
|
NM_000238.4(KCNH2):c.3098G>T (p.Arg1033Leu)
|
rs750858069
|
|
NM_000238.4(KCNH2):c.3098_3101dup (p.Arg1035fs)
|
|
|
NM_000238.4(KCNH2):c.3099G>C (p.Arg1033=)
|
rs912722561
|
|
NM_000238.4(KCNH2):c.3099_3109del (p.Pro1034fs)
|
rs794728466
|
|
NM_000238.4(KCNH2):c.3099_3109dup (p.Asp1037fs)
|
rs794728466
|
|
NM_000238.4(KCNH2):c.3099_3112del (p.Pro1034fs)
|
rs1554424044
|
|
NM_000238.4(KCNH2):c.3099del (p.Arg1035fs)
|
rs1057517743
|
|
NM_000238.4(KCNH2):c.3099dup (p.Pro1034fs)
|
|
|
NM_000238.4(KCNH2):c.30G>C (p.Pro10=)
|
|
|
NM_000238.4(KCNH2):c.3100_3103dup (p.Arg1035fs)
|
|
|
NM_000238.4(KCNH2):c.3100_3106dup (p.Gly1036fs)
|
rs1554424062
|
|
NM_000238.4(KCNH2):c.3101_3108del (p.Pro1034fs)
|
rs2116928626
|
|
NM_000238.4(KCNH2):c.3103del (p.Arg1035fs)
|
rs794728468
|
|
NM_000238.4(KCNH2):c.3103dup (p.Arg1035fs)
|
rs794728468
|
|
NM_000238.4(KCNH2):c.3105G>A (p.Arg1035=)
|
|
|
NM_000238.4(KCNH2):c.3105_3107dup (p.Gly1036dup)
|
rs794728469
|
|
NM_000238.4(KCNH2):c.3105_3109dup (p.Asp1037fs)
|
rs2116928557
|
|
NM_000238.4(KCNH2):c.3105_3112dup (p.Val1038fs)
|
rs794728470
|
|
NM_000238.4(KCNH2):c.3106G>A (p.Gly1036Ser)
|
|
|
NM_000238.4(KCNH2):c.3106_3107dup (p.Asp1037fs)
|
rs794728469
|
|
NM_000238.4(KCNH2):c.3107_3112dup (p.Gly1036_Asp1037dup)
|
rs1554424038
|
|
NM_000238.4(KCNH2):c.3107_3127del (p.Gly1036_Leu1042del)
|
rs1064792917
|
|
NM_000238.4(KCNH2):c.3107del (p.Gly1036fs)
|
rs794728469
|
|
NM_000238.4(KCNH2):c.3107dup (p.Asp1037fs)
|
rs794728469
|
|
NM_000238.4(KCNH2):c.3108_3112dup (p.Val1038fs)
|
rs1800936242
|
|
NM_000238.4(KCNH2):c.3108dup (p.Asp1037fs)
|
rs1584843033
|
|
NM_000238.4(KCNH2):c.3111C>A (p.Asp1037Glu)
|
|
|
NM_000238.4(KCNH2):c.3112G>T (p.Val1038Leu)
|
rs199473544
|
|
NM_000238.4(KCNH2):c.3119G>A (p.Ser1040Asn)
|
rs794728404
|
|
NM_000238.4(KCNH2):c.3122G>A (p.Arg1041Lys)
|
rs2116928345
|
|
NM_000238.4(KCNH2):c.3126G>A (p.Leu1042=)
|
|
|
NM_000238.4(KCNH2):c.3129T>C (p.Asp1043=)
|
rs2116928259
|
|
NM_000238.4(KCNH2):c.312C>G (p.Ser104Arg)
|
rs1554428245
|
|
NM_000238.4(KCNH2):c.3131C>T (p.Ala1044Val)
|
|
|
NM_000238.4(KCNH2):c.3132C>T (p.Ala1044=)
|
|
|
NM_000238.4(KCNH2):c.3133C>A (p.Leu1045Ile)
|
|
|
NM_000238.4(KCNH2):c.3134T>G (p.Leu1045Arg)
|
rs1800934753
|
|
NM_000238.4(KCNH2):c.3137A>G (p.Gln1046Arg)
|
rs1800934521
|
|
NM_000238.4(KCNH2):c.3140G>A (p.Arg1047His)
|
rs36210421
|
|
NM_000238.4(KCNH2):c.3140G>T (p.Arg1047Leu)
|
rs36210421
|
|
NM_000238.4(KCNH2):c.3152+10T>C
|
rs1427022039
|
|
NM_000238.4(KCNH2):c.3152+11G>A
|
rs1451056969
|
|
NM_000238.4(KCNH2):c.3152+1G>T
|
rs1057518151
|
|
NM_000238.4(KCNH2):c.3152+20G>T
|
rs2116927915
|
|
NM_000238.4(KCNH2):c.3153-14A>G
|
|
|
NM_000238.4(KCNH2):c.3153-15C>A
|
|
|
NM_000238.4(KCNH2):c.3153-16C>G
|
rs779662956
|
|
NM_000238.4(KCNH2):c.3153-18C>A
|
|
|
NM_000238.4(KCNH2):c.3153-1G>C
|
|
|
NM_000238.4(KCNH2):c.3153-4C>G
|
|
|
NM_000238.4(KCNH2):c.3153-5C>T
|
|
|
NM_000238.4(KCNH2):c.3153-9C>T
|
rs1057520425
|
|
NM_000238.4(KCNH2):c.3153G>T (p.Arg1051Ser)
|
rs1800920453
|
|
NM_000238.4(KCNH2):c.315C>T (p.Cys105=)
|
rs772377097
|
|
NM_000238.4(KCNH2):c.3161C>T (p.Thr1054Ile)
|
rs1554423904
|
|
NM_000238.4(KCNH2):c.3162C>T (p.Thr1054=)
|
|
|
NM_000238.4(KCNH2):c.3163C>A (p.Arg1055=)
|
|
|
NM_000238.4(KCNH2):c.3163C>G (p.Arg1055Gly)
|
|
|
NM_000238.4(KCNH2):c.3163C>T (p.Arg1055Trp)
|
rs541259035
|
|
NM_000238.4(KCNH2):c.3166C>A (p.Leu1056Met)
|
|
|
NM_000238.4(KCNH2):c.3167dup (p.Ser1057fs)
|
rs1584842021
|
|
NM_000238.4(KCNH2):c.3170G>T (p.Ser1057Ile)
|
|
|
NM_000238.4(KCNH2):c.3172dup (p.Ala1058fs)
|
|
|
NM_000238.4(KCNH2):c.3178A>G (p.Met1060Val)
|
rs767156792
|
|
NM_000238.4(KCNH2):c.3185C>T (p.Thr1062Ile)
|
rs761811244
|
|
NM_000238.4(KCNH2):c.3186T>C (p.Thr1062=)
|
rs774112063
|
|
NM_000238.4(KCNH2):c.3191T>G (p.Leu1064Arg)
|
rs1800917926
|
|
NM_000238.4(KCNH2):c.3193C>T (p.Gln1065Ter)
|
rs1554423871
|
|
NM_000238.4(KCNH2):c.3194A>G (p.Gln1065Arg)
|
|
|
NM_000238.4(KCNH2):c.3194_3330+68del
|
|
|
NM_000238.4(KCNH2):c.3196C>G (p.Leu1066Val)
|
rs199473027
|
|
NM_000238.4(KCNH2):c.3196C>T (p.Leu1066=)
|
|
|
NM_000238.4(KCNH2):c.31C>T (p.Gln11Ter)
|
rs794728416
|
|
NM_000238.4(KCNH2):c.3205A>T (p.Arg1069Trp)
|
rs2116926123
|
|
NM_000238.4(KCNH2):c.3206G>A (p.Arg1069Lys)
|
rs2116926112
|
|
NM_000238.4(KCNH2):c.3207G>A (p.Arg1069=)
|
|
|
NM_000238.4(KCNH2):c.3208C>T (p.Gln1070Ter)
|
|
|
NM_000238.4(KCNH2):c.3209A>T (p.Gln1070Leu)
|
rs1386424341
|
|
NM_000238.4(KCNH2):c.3219G>A (p.Leu1073=)
|
|
|
NM_000238.4(KCNH2):c.3222C>T (p.Val1074=)
|
rs2116925925
|
|
NM_000238.4(KCNH2):c.3225_3231del (p.Pro1076fs)
|
rs1584841841
|
|
NM_000238.4(KCNH2):c.3228C>A (p.Pro1076=)
|
|
|
NM_000238.4(KCNH2):c.322T>C (p.Cys108Arg)
|
rs199472859
|
|
NM_000238.4(KCNH2):c.3236G>A (p.Ser1079Asn)
|
|
|
NM_000238.4(KCNH2):c.323G>A (p.Cys108Tyr)
|
rs2117012538
|
|
NM_000238.4(KCNH2):c.3245_3251dup (p.Gly1085fs)
|
|
|
NM_000238.4(KCNH2):c.3246C>A (p.Thr1082=)
|
rs2116925686
|
|
NM_000238.4(KCNH2):c.3248C>T (p.Thr1083Ile)
|
|
|
NM_000238.4(KCNH2):c.3251C>G (p.Pro1084Arg)
|
rs762510312
|
|
NM_000238.4(KCNH2):c.3251dup (p.Pro1086fs)
|
rs794728473
|
|
NM_000238.4(KCNH2):c.3253G>C (p.Gly1085Arg)
|
|
|
NM_000238.4(KCNH2):c.3255G>A (p.Gly1085=)
|
rs1005325992
|
|
NM_000238.4(KCNH2):c.3255G>C (p.Gly1085=)
|
|
|
NM_000238.4(KCNH2):c.3255dup (p.Pro1086fs)
|
rs1064795855
|
|
NM_000238.4(KCNH2):c.3258T>G (p.Pro1086=)
|
|
|
NM_000238.4(KCNH2):c.3261C>T (p.Gly1087=)
|
rs1584841732
|
|
NM_000238.4(KCNH2):c.3262C>A (p.Pro1088Thr)
|
|
|
NM_000238.4(KCNH2):c.3263C>G (p.Pro1088Arg)
|
rs1800912992
|
|
NM_000238.4(KCNH2):c.3263C>T (p.Pro1088Leu)
|
|
|
NM_000238.4(KCNH2):c.3264C>A (p.Pro1088=)
|
|
|
NM_000238.4(KCNH2):c.3264C>G (p.Pro1088=)
|
rs1554423761
|
|
NM_000238.4(KCNH2):c.3273_3288dup (p.Val1097fs)
|
|
|
NM_000238.4(KCNH2):c.3279G>A (p.Pro1093=)
|
rs202198564
|
|
NM_000238.4(KCNH2):c.3279_3280delinsAA (p.Leu1094Met)
|
rs1800911944
|
|
NM_000238.4(KCNH2):c.3279_3303del (p.Leu1094fs)
|
rs1554423720
|
|
NM_000238.4(KCNH2):c.3280C>T (p.Leu1094=)
|
|
|
NM_000238.4(KCNH2):c.3281dup (p.Leu1095fs)
|
|
|
NM_000238.4(KCNH2):c.3282G>C (p.Leu1094=)
|
rs2116925281
|
|
NM_000238.4(KCNH2):c.3286C>A (p.Pro1096Thr)
|
rs1554423737
|
|
NM_000238.4(KCNH2):c.328G>A (p.Val110Met)
|
|
|
NM_000238.4(KCNH2):c.3291C>A (p.Val1097=)
|
|
|
NM_000238.4(KCNH2):c.3292A>C (p.Ser1098Arg)
|
rs1800911203
|
|
NM_000238.4(KCNH2):c.32A>G (p.Gln11Arg)
|
rs1156510876
|
|
NM_000238.4(KCNH2):c.3301C>T (p.Pro1101Ser)
|
rs1347039291
|
|
NM_000238.4(KCNH2):c.3302C>T (p.Pro1101Leu)
|
rs199473041
|
|
NM_000238.4(KCNH2):c.3305C>T (p.Thr1102Ile)
|
rs794728405
|
|
NM_000238.4(KCNH2):c.3312C>T (p.Thr1104=)
|
|
|
NM_000238.4(KCNH2):c.3321G>C (p.Ser1107=)
|
rs189457419
|
|
NM_000238.4(KCNH2):c.3322C>G (p.Leu1108Val)
|
rs199473031
|
|
NM_000238.4(KCNH2):c.3330+10A>G
|
|
|
NM_000238.4(KCNH2):c.3330+11G>C
|
|
|
NM_000238.4(KCNH2):c.3330+12C>T
|
|
|
NM_000238.4(KCNH2):c.3330+15T>G
|
|
|
NM_000238.4(KCNH2):c.3330+17C>T
|
|
|
NM_000238.4(KCNH2):c.3330+8C>T
|
|
|
NM_000238.4(KCNH2):c.3331-10T>C
|
|
|
NM_000238.4(KCNH2):c.3331-13GT[2]
|
rs41313749
|
|
NM_000238.4(KCNH2):c.3331-15_3331-14del
|
|
|
NM_000238.4(KCNH2):c.3331-18G>T
|
|
|
NM_000238.4(KCNH2):c.3331-9G>A
|
rs754582515
|
|
NM_000238.4(KCNH2):c.3333T>C (p.Val1111=)
|
rs2116918156
|
|
NM_000238.4(KCNH2):c.3342C>G (p.Phe1114Leu)
|
|
|
NM_000238.4(KCNH2):c.3348G>T (p.Ala1116=)
|
|
|
NM_000238.4(KCNH2):c.3350G>T (p.Cys1117Phe)
|
rs730880119
|
|
NM_000238.4(KCNH2):c.3351T>C (p.Cys1117=)
|
|
|
NM_000238.4(KCNH2):c.3352G>A (p.Glu1118Lys)
|
rs1800858264
|
|
NM_000238.4(KCNH2):c.3357G>A (p.Glu1119=)
|
rs1389024546
|
|
NM_000238.4(KCNH2):c.3357G>C (p.Glu1119Asp)
|
|
|
NM_000238.4(KCNH2):c.3358C>G (p.Leu1120Val)
|
rs1584839287
|
|
NM_000238.4(KCNH2):c.3361C>T (p.Pro1121Ser)
|
rs1800857722
|
|
NM_000238.4(KCNH2):c.3365dup (p.Ala1124fs)
|
rs1800857447
|
|
NM_000238.4(KCNH2):c.3366G>C (p.Pro1122=)
|
rs371473271
|
|
NM_000238.4(KCNH2):c.3370dup (p.Ala1124fs)
|
|
|
NM_000238.4(KCNH2):c.3376G>C (p.Glu1126Gln)
|
|
|
NM_000238.4(KCNH2):c.3379C>T (p.Leu1127Phe)
|
rs1800856518
|
|
NM_000238.4(KCNH2):c.3380T>C (p.Leu1127Pro)
|
|
|
NM_000238.4(KCNH2):c.3384C>G (p.Pro1128=)
|
|
|
NM_000238.4(KCNH2):c.3384C>T (p.Pro1128=)
|
rs2116917718
|
|
NM_000238.4(KCNH2):c.3385C>G (p.Gln1129Glu)
|
|
|
NM_000238.4(KCNH2):c.3387A>G (p.Gln1129=)
|
|
|
NM_000238.4(KCNH2):c.33G>A (p.Gln11=)
|
rs1473417269
|
|
NM_000238.4(KCNH2):c.3406C>T (p.Leu1136Phe)
|
rs1344656004
|
|
NM_000238.4(KCNH2):c.340C>T (p.Pro114Ser)
|
rs199472861
|
|
NM_000238.4(KCNH2):c.3410C>A (p.Ser1137Tyr)
|
rs1413026629
|
|
NM_000238.4(KCNH2):c.3417G>A (p.Pro1139=)
|
|
|
NM_000238.4(KCNH2):c.3419del (p.Gly1140fs)
|
|
|
NM_000238.4(KCNH2):c.3429G>T (p.Gly1143=)
|
rs747931464
|
|
NM_000238.4(KCNH2):c.3432C>T (p.Ala1144=)
|
rs2116917441
|
|
NM_000238.4(KCNH2):c.3433C>G (p.Leu1145Val)
|
|
|
NM_000238.4(KCNH2):c.3456A>G (p.Arg1152=)
|
rs1173999193
|
|
NM_000238.4(KCNH2):c.3458dup (p.His1153fs)
|
rs2116917246
|
|
NM_000238.4(KCNH2):c.345GAA[1] (p.Lys116del)
|
rs864622157
|
|
NM_000238.4(KCNH2):c.3460G>A (p.Gly1154Ser)
|
rs199473548
|
|
NM_000238.4(KCNH2):c.3460G>T (p.Gly1154Cys)
|
|
|
NM_000238.4(KCNH2):c.3466G>C (p.Asp1156His)
|
rs2116917171
|
|
NM_000238.4(KCNH2):c.3466G>T (p.Asp1156Tyr)
|
|
|
NM_000238.4(KCNH2):c.346A>C (p.Lys116Gln)
|
|
|
NM_000238.4(KCNH2):c.3473G>C (p.Gly1158Ala)
|
rs1800852263
|
|
NM_000238.4(KCNH2):c.34A>C (p.Asn12His)
|
rs1412463792
|
|
NM_000238.4(KCNH2):c.34A>G (p.Asn12Asp)
|
rs1412463792
|
|
NM_000238.4(KCNH2):c.34A>T (p.Asn12Tyr)
|
rs1412463792
|
|
NM_000238.4(KCNH2):c.352G>C (p.Glu118Gln)
|
rs746600107
|
|
NM_000238.4(KCNH2):c.354G>C (p.Glu118Asp)
|
|
|
NM_000238.4(KCNH2):c.360G>A (p.Gly120=)
|
|
|
NM_000238.4(KCNH2):c.371T>G (p.Met124Arg)
|
rs199472862
|
|
NM_000238.4(KCNH2):c.373T>C (p.Phe125Leu)
|
rs1801500008
|
|
NM_000238.4(KCNH2):c.373_374insGTGG (p.Phe125fs)
|
rs794728489
|
|
NM_000238.4(KCNH2):c.374T>G (p.Phe125Cys)
|
rs199473499
|
|
NM_000238.4(KCNH2):c.376A>T (p.Ile126Phe)
|
|
|
NM_000238.4(KCNH2):c.377T>A (p.Ile126Asn)
|
rs1801499760
|
|
NM_000238.4(KCNH2):c.383A>C (p.Asn128Thr)
|
rs200343670
|
|
NM_000238.4(KCNH2):c.387C>G (p.Phe129Leu)
|
rs764831888
|
|
NM_000238.4(KCNH2):c.388G>A (p.Glu130Lys)
|
rs199472863
|
|
NM_000238.4(KCNH2):c.38C>T (p.Thr13Ile)
|
|
|
NM_000238.4(KCNH2):c.392T>C (p.Val131Ala)
|
|
|
NM_000238.4(KCNH2):c.393G>A (p.Val131=)
|
rs754093210
|
|
NM_000238.4(KCNH2):c.396G>T (p.Val132=)
|
|
|
NM_000238.4(KCNH2):c.3G>A (p.Met1Ile)
|
rs2117072816
|
|
NM_000238.4(KCNH2):c.401A>G (p.Glu134Gly)
|
rs2117011932
|
|
NM_000238.4(KCNH2):c.402del (p.Lys135fs)
|
rs1060500670
|
|
NM_000238.4(KCNH2):c.403_405del (p.Lys135del)
|
|
|
NM_000238.4(KCNH2):c.406G>T (p.Asp136Tyr)
|
rs2117011882
|
|
NM_000238.4(KCNH2):c.413T>C (p.Val138Ala)
|
|
|
NM_000238.4(KCNH2):c.419C>A (p.Ser140Tyr)
|
|
|
NM_000238.4(KCNH2):c.41T>A (p.Phe14Tyr)
|
|
|
NM_000238.4(KCNH2):c.420C>T (p.Ser140=)
|
|
|
NM_000238.4(KCNH2):c.422dup (p.Ala142fs)
|
rs2117011733
|
|
NM_000238.4(KCNH2):c.426T>C (p.Ala142=)
|
rs2117011686
|
|
NM_000238.4(KCNH2):c.42C>T (p.Phe14=)
|
|
|
NM_000238.4(KCNH2):c.434C>T (p.Thr145Ile)
|
rs1801497068
|
|
NM_000238.4(KCNH2):c.435C>T (p.Thr145=)
|
rs1008362369
|
|
NM_000238.4(KCNH2):c.439C>T (p.His147Tyr)
|
|
|
NM_000238.4(KCNH2):c.43C>G (p.Leu15Val)
|
|
|
NM_000238.4(KCNH2):c.442C>A (p.Arg148=)
|
rs139544114
|
|
NM_000238.4(KCNH2):c.445G>C (p.Gly149Arg)
|
rs2117011494
|
|
NM_000238.4(KCNH2):c.446G>A (p.Gly149Asp)
|
rs199472865
|
|
NM_000238.4(KCNH2):c.446G>C (p.Gly149Ala)
|
rs199472865
|
|
NM_000238.4(KCNH2):c.446G>T (p.Gly149Val)
|
|
|
NM_000238.4(KCNH2):c.44T>G (p.Leu15Arg)
|
rs794728418
|
|
NM_000238.4(KCNH2):c.451C>G (p.Pro151Ala)
|
rs1060500674
|
|
NM_000238.4(KCNH2):c.451C>T (p.Pro151Ser)
|
rs1060500674
|
|
NM_000238.4(KCNH2):c.453C>T (p.Pro151=)
|
|
|
NM_000238.4(KCNH2):c.453del (p.Thr152fs)
|
rs761863251
|
|
NM_000238.4(KCNH2):c.453dup (p.Thr152fs)
|
rs761863251
|
|
NM_000238.4(KCNH2):c.455C>T (p.Thr152Ile)
|
rs794728354
|
|
NM_000238.4(KCNH2):c.461G>A (p.Trp154Ter)
|
rs1554428173
|
|
NM_000238.4(KCNH2):c.462G>A (p.Trp154Ter)
|
|
|
NM_000238.4(KCNH2):c.464del (p.Leu155fs)
|
rs2117011246
|
|
NM_000238.4(KCNH2):c.468C>A (p.Ala156=)
|
|
|
NM_000238.4(KCNH2):c.46del (p.Asp16fs)
|
rs1584885912
|
|
NM_000238.4(KCNH2):c.470C>T (p.Pro157Leu)
|
|
|
NM_000238.4(KCNH2):c.470del (p.Pro157fs)
|
rs1554428170
|
|
NM_000238.4(KCNH2):c.472+17T>C
|
|
|
NM_000238.4(KCNH2):c.472+19G>A
|
rs1350531891
|
|
NM_000238.4(KCNH2):c.472+1G>A
|
rs794728477
|
|
NM_000238.4(KCNH2):c.472+7G>A
|
rs896402461
|
|
NM_000238.4(KCNH2):c.473-20G>A
|
rs1362273954
|
|
NM_000238.4(KCNH2):c.473-2A>G
|
rs2117007319
|
|
NM_000238.4(KCNH2):c.473-4G>A
|
rs1472016275
|
|
NM_000238.4(KCNH2):c.473-4G>T
|
rs1472016275
|
|
NM_000238.4(KCNH2):c.473-8T>A
|
rs1801464787
|
|
NM_000238.4(KCNH2):c.473G>A (p.Gly158Asp)
|
rs2117007305
|
|
NM_000238.4(KCNH2):c.47A>G (p.Asp16Gly)
|
|
|
NM_000238.4(KCNH2):c.485C>G (p.Thr162Ser)
|
rs2117007200
|
|
NM_000238.4(KCNH2):c.486del (p.Phe163fs)
|
|
|
NM_000238.4(KCNH2):c.488T>G (p.Phe163Cys)
|
|
|
NM_000238.4(KCNH2):c.489C>G (p.Phe163Leu)
|
|
|
NM_000238.4(KCNH2):c.48C>A (p.Asp16Glu)
|
|
|
NM_000238.4(KCNH2):c.493C>T (p.Leu165=)
|
rs763058928
|
|
NM_000238.4(KCNH2):c.494T>A (p.Leu165Gln)
|
|
|
NM_000238.4(KCNH2):c.497A>T (p.Lys166Met)
|
|
|
NM_000238.4(KCNH2):c.498G>C (p.Lys166Asn)
|
|
|
NM_000238.4(KCNH2):c.504C>A (p.Pro168=)
|
rs547228640
|
|
NM_000238.4(KCNH2):c.504C>T (p.Pro168=)
|
rs547228640
|
|
NM_000238.4(KCNH2):c.507dup (p.Leu170fs)
|
rs1801462423
|
|
NM_000238.4(KCNH2):c.508CTG[4] (p.Leu171_Ala172insLeuLeu)
|
rs1801462189
|
|
NM_000238.4(KCNH2):c.50C>T (p.Thr17Ile)
|
rs2117072638
|
|
NM_000238.4(KCNH2):c.510G>T (p.Leu170=)
|
|
|
NM_000238.4(KCNH2):c.512_536del (p.Leu171fs)
|
rs1554427943
|
|
NM_000238.4(KCNH2):c.514G>T (p.Ala172Ser)
|
|
|
NM_000238.4(KCNH2):c.519G>A (p.Leu173=)
|
|
|
NM_000238.4(KCNH2):c.51C>A (p.Thr17=)
|
rs144338227
|
|
NM_000238.4(KCNH2):c.521C>T (p.Thr174Met)
|
|
|
NM_000238.4(KCNH2):c.522G>A (p.Thr174=)
|
|
|
NM_000238.4(KCNH2):c.522G>C (p.Thr174=)
|
|
|
NM_000238.4(KCNH2):c.522G>T (p.Thr174=)
|
|
|
NM_000238.4(KCNH2):c.523G>A (p.Ala175Thr)
|
rs1296505812
|
|
NM_000238.4(KCNH2):c.529G>T (p.Glu177Ter)
|
|
|
NM_000238.4(KCNH2):c.530A>C (p.Glu177Ala)
|
rs1801461414
|
|
NM_000238.4(KCNH2):c.532T>C (p.Ser178Pro)
|
|
|
NM_000238.4(KCNH2):c.535T>G (p.Ser179Ala)
|
rs2117006847
|
|
NM_000238.4(KCNH2):c.536C>T (p.Ser179Leu)
|
rs1420527867
|
|
NM_000238.4(KCNH2):c.537G>A (p.Ser179=)
|
|
|
NM_000238.4(KCNH2):c.540G>A (p.Val180=)
|
|
|
NM_000238.4(KCNH2):c.542G>C (p.Arg181Pro)
|
|
|
NM_000238.4(KCNH2):c.543G>A (p.Arg181=)
|
rs2117006753
|
|
NM_000238.4(KCNH2):c.544_551dup (p.Ala185fs)
|
rs1554427931
|
|
NM_000238.4(KCNH2):c.544_556del (p.Ser182fs)
|
rs2117006599
|
|
NM_000238.4(KCNH2):c.545C>A (p.Ser182Ter)
|
rs1057517742
|
|
NM_000238.4(KCNH2):c.545C>G (p.Ser182Trp)
|
rs1057517742
|
|
NM_000238.4(KCNH2):c.545C>T (p.Ser182Leu)
|
|
|
NM_000238.4(KCNH2):c.546G>T (p.Ser182=)
|
|
|
NM_000238.4(KCNH2):c.548_560del (p.Gly183fs)
|
|
|
NM_000238.4(KCNH2):c.550G>A (p.Gly184Ser)
|
|
|
NM_000238.4(KCNH2):c.551GCGCGGGCG[1] (p.184GAG[1])
|
rs551056698
|
|
NM_000238.4(KCNH2):c.551GCGCGGGCG[3] (p.Gly189_Ala190insGlyAlaGly)
|
rs551056698
|
|
NM_000238.4(KCNH2):c.551GCGCGGGCG[4] (p.Gly189_Ala190insGlyAlaGlyGlyAlaGly)
|
rs551056698
|
|
NM_000238.4(KCNH2):c.552C>T (p.Gly184=)
|
rs1480710402
|
|
NM_000238.4(KCNH2):c.553G>A (p.Ala185Thr)
|
rs2117006639
|
|
NM_000238.4(KCNH2):c.553_560del (p.Ala185fs)
|
|
|
NM_000238.4(KCNH2):c.555G>T (p.Ala185=)
|
|
|
NM_000238.4(KCNH2):c.555_569del (p.Gly186_Ala190del)
|
rs1554427907
|
|
NM_000238.4(KCNH2):c.559G>T (p.Gly187Cys)
|
|
|
NM_000238.4(KCNH2):c.55A>T (p.Ile19Phe)
|
rs1554431444
|
|
NM_000238.4(KCNH2):c.562G>A (p.Ala188Thr)
|
rs1273532552
|
|
NM_000238.4(KCNH2):c.562_570del (p.Ala188_Ala190del)
|
|
|
NM_000238.4(KCNH2):c.562_570dup (p.Ala190_Pro191insAlaGlyAla)
|
rs1309145286
|
|
NM_000238.4(KCNH2):c.565_568del (p.Gly189fs)
|
rs794728420
|
|
NM_000238.4(KCNH2):c.566G>T (p.Gly189Val)
|
rs1584866229
|
|
NM_000238.4(KCNH2):c.567C>G (p.Gly189=)
|
rs2117006470
|
|
NM_000238.4(KCNH2):c.567C>T (p.Gly189=)
|
|
|
NM_000238.4(KCNH2):c.567_575dup (p.Ala193_Val194insProGlyAla)
|
rs1370496092
|
|
NM_000238.4(KCNH2):c.568G>T (p.Ala190Ser)
|
|
|
NM_000238.4(KCNH2):c.569C>T (p.Ala190Val)
|
|
|
NM_000238.4(KCNH2):c.56T>G (p.Ile19Ser)
|
rs1802016246
|
|
NM_000238.4(KCNH2):c.571_579dup (p.Ala193_Val194insProGlyAla)
|
rs1801457419
|
|
NM_000238.4(KCNH2):c.572C>T (p.Pro191Leu)
|
rs1345107784
|
|
NM_000238.4(KCNH2):c.572del (p.Pro191fs)
|
rs794728423
|
|
NM_000238.4(KCNH2):c.573G>A (p.Pro191=)
|
|
|
NM_000238.4(KCNH2):c.576G>A (p.Gly192=)
|
rs2117006246
|
|
NM_000238.4(KCNH2):c.580G>T (p.Val194Leu)
|
|
|
NM_000238.4(KCNH2):c.585G>A (p.Val195=)
|
rs2117006136
|
|
NM_000238.4(KCNH2):c.58C>G (p.Arg20Gly)
|
rs199473486
|
|
NM_000238.4(KCNH2):c.598C>G (p.Leu200Val)
|
rs1057523402
|
|
NM_000238.4(KCNH2):c.598C>T (p.Leu200=)
|
rs1057523402
|
|
NM_000238.4(KCNH2):c.59G>C (p.Arg20Pro)
|
|
|
NM_000238.4(KCNH2):c.5C>T (p.Pro2Leu)
|
|
|
NM_000238.4(KCNH2):c.600G>A (p.Leu200=)
|
rs2117006027
|
|
NM_000238.4(KCNH2):c.602C>A (p.Thr201Lys)
|
|
|
NM_000238.4(KCNH2):c.602C>T (p.Thr201Met)
|
rs794728357
|
|
NM_000238.4(KCNH2):c.603G>A (p.Thr201=)
|
rs756435622
|
|
NM_000238.4(KCNH2):c.603G>T (p.Thr201=)
|
rs756435622
|
|
NM_000238.4(KCNH2):c.606C>T (p.Pro202=)
|
rs1188978264
|
|
NM_000238.4(KCNH2):c.607G>A (p.Ala203Thr)
|
rs199472868
|
|
NM_000238.4(KCNH2):c.60C>A (p.Arg20=)
|
rs748478702
|
|
NM_000238.4(KCNH2):c.60C>G (p.Arg20=)
|
rs748478702
|
|
NM_000238.4(KCNH2):c.60C>T (p.Arg20=)
|
|
|
NM_000238.4(KCNH2):c.613C>A (p.Pro205Thr)
|
rs939574819
|
|
NM_000238.4(KCNH2):c.617_618delinsTT (p.Ser206Ile)
|
rs1060500660
|
|
NM_000238.4(KCNH2):c.622G>A (p.Glu208Lys)
|
rs1300618190
|
|
NM_000238.4(KCNH2):c.624G>A (p.Glu208=)
|
|
|
NM_000238.4(KCNH2):c.627G>T (p.Ser209=)
|
|
|
NM_000238.4(KCNH2):c.629T>A (p.Leu210Gln)
|
|
|
NM_000238.4(KCNH2):c.629T>C (p.Leu210Pro)
|
rs1243787663
|
|
NM_000238.4(KCNH2):c.632C>T (p.Ala211Val)
|
|
|
NM_000238.4(KCNH2):c.638A>G (p.Asp213Gly)
|
rs531677961
|
|
NM_000238.4(KCNH2):c.639C>T (p.Asp213=)
|
|
|
NM_000238.4(KCNH2):c.63G>A (p.Lys21=)
|
|
|
NM_000238.4(KCNH2):c.647C>T (p.Thr216Ile)
|
rs1563170569
|
|
NM_000238.4(KCNH2):c.64T>G (p.Phe22Val)
|
rs2117072572
|
|
NM_000238.4(KCNH2):c.650C>A (p.Ala217Asp)
|
|
|
NM_000238.4(KCNH2):c.655G>A (p.Asp219Asn)
|
rs1584865954
|
|
NM_000238.4(KCNH2):c.657C>T (p.Asp219=)
|
rs1187595181
|
|
NM_000238.4(KCNH2):c.659del (p.Asn220fs)
|
|
|
NM_000238.4(KCNH2):c.662A>G (p.His221Arg)
|
|
|
NM_000238.4(KCNH2):c.663C>A (p.His221Gln)
|
|
|
NM_000238.4(KCNH2):c.663C>G (p.His221Gln)
|
rs752896394
|
|
NM_000238.4(KCNH2):c.664G>A (p.Val222Met)
|
rs1263535997
|
|
NM_000238.4(KCNH2):c.665T>C (p.Val222Ala)
|
rs2117005357
|
|
NM_000238.4(KCNH2):c.668_671del (p.Ala223fs)
|
|
|
NM_000238.4(KCNH2):c.669del (p.Leu225fs)
|
rs2117005326
|
|
NM_000238.4(KCNH2):c.66dup (p.Glu23Ter)
|
rs1554431441
|
|
NM_000238.4(KCNH2):c.672G>T (p.Gly224=)
|
|
|
NM_000238.4(KCNH2):c.676G>C (p.Gly226Arg)
|
|
|
NM_000238.4(KCNH2):c.678del (p.Ala228fs)
|
rs794728496
|
|
NM_000238.4(KCNH2):c.680C>A (p.Pro227His)
|
|
|
NM_000238.4(KCNH2):c.680C>G (p.Pro227Arg)
|
|
|
NM_000238.4(KCNH2):c.681C>A (p.Pro227=)
|
rs1554427841
|
|
NM_000238.4(KCNH2):c.681C>G (p.Pro227=)
|
rs1554427841
|
|
NM_000238.4(KCNH2):c.682G>C (p.Ala228Pro)
|
rs989191027
|
|
NM_000238.4(KCNH2):c.684G>A (p.Ala228=)
|
rs1350217087
|
|
NM_000238.4(KCNH2):c.684G>C (p.Ala228=)
|
rs1350217087
|
|
NM_000238.4(KCNH2):c.685G>A (p.Glu229Lys)
|
rs730880116
|
|
NM_000238.4(KCNH2):c.685G>T (p.Glu229Ter)
|
rs730880116
|
|
NM_000238.4(KCNH2):c.688G>T (p.Glu230Ter)
|
|
|
NM_000238.4(KCNH2):c.690_691delinsTT (p.Glu230_Arg231delinsAspTrp)
|
rs1801450645
|
|
NM_000238.4(KCNH2):c.695G>T (p.Arg232Leu)
|
rs886039160
|
|
NM_000238.4(KCNH2):c.695_700del (p.Arg232_Ala233del)
|
rs2117004912
|
|
NM_000238.4(KCNH2):c.697G>A (p.Ala233Thr)
|
rs772037564
|
|
NM_000238.4(KCNH2):c.699G>T (p.Ala233=)
|
|
|
NM_000238.4(KCNH2):c.69G>A (p.Glu23=)
|
|
|
NM_000238.4(KCNH2):c.700C>T (p.Leu234=)
|
|
|
NM_000238.4(KCNH2):c.707G>A (p.Gly236Asp)
|
rs199472870
|
|
NM_000238.4(KCNH2):c.707_708del (p.Gly236fs)
|
rs1801449253
|
|
NM_000238.4(KCNH2):c.710C>A (p.Pro237His)
|
rs1554427821
|
|
NM_000238.4(KCNH2):c.711C>G (p.Pro237=)
|
rs774222426
|
|
NM_000238.4(KCNH2):c.711C>T (p.Pro237=)
|
|
|
NM_000238.4(KCNH2):c.712G>T (p.Gly238Cys)
|
rs199473501
|
|
NM_000238.4(KCNH2):c.718C>G (p.Pro240Ala)
|
|
|
NM_000238.4(KCNH2):c.720G>C (p.Pro240=)
|
rs899939755
|
|
NM_000238.4(KCNH2):c.721C>T (p.Pro241Ser)
|
|
|
NM_000238.4(KCNH2):c.724C>G (p.Arg242Gly)
|
rs199472872
|
|
NM_000238.4(KCNH2):c.725_726delinsAA (p.Arg242Gln)
|
rs1554427803
|
|
NM_000238.4(KCNH2):c.726C>T (p.Arg242=)
|
|
|
NM_000238.4(KCNH2):c.729C>A (p.Ser243Arg)
|
|
|
NM_000238.4(KCNH2):c.729C>T (p.Ser243=)
|
rs863224337
|
|
NM_000238.4(KCNH2):c.72C>G (p.Gly24=)
|
rs1436486897
|
|
NM_000238.4(KCNH2):c.730G>A (p.Ala244Thr)
|
|
|
NM_000238.4(KCNH2):c.731C>A (p.Ala244Glu)
|
rs748762712
|
|
NM_000238.4(KCNH2):c.731C>G (p.Ala244Gly)
|
rs748762712
|
|
NM_000238.4(KCNH2):c.731C>T (p.Ala244Val)
|
rs748762712
|
|
NM_000238.4(KCNH2):c.732G>T (p.Ala244=)
|
rs1255299868
|
|
NM_000238.4(KCNH2):c.734C>A (p.Pro245His)
|
|
|
NM_000238.4(KCNH2):c.735C>T (p.Pro245=)
|
rs1361757645
|
|
NM_000238.4(KCNH2):c.735_754dup (p.Arg252fs)
|
rs794728425
|
|
NM_000238.4(KCNH2):c.738C>T (p.Gly246=)
|
|
|
NM_000238.4(KCNH2):c.742C>G (p.Leu248Val)
|
|
|
NM_000238.4(KCNH2):c.744C>G (p.Leu248=)
|
rs1584865603
|
|
NM_000238.4(KCNH2):c.747A>G (p.Pro249=)
|
rs2117004364
|
|
NM_000238.4(KCNH2):c.748T>A (p.Ser250Thr)
|
rs2117004339
|
|
NM_000238.4(KCNH2):c.750G>A (p.Ser250=)
|
|
|
NM_000238.4(KCNH2):c.750_751delinsCT (p.Pro251Ser)
|
rs2117004283
|
|
NM_000238.4(KCNH2):c.751C>T (p.Pro251Ser)
|
rs199472873
|
|
NM_000238.4(KCNH2):c.752C>T (p.Pro251Leu)
|
rs1801446130
|
|
NM_000238.4(KCNH2):c.754C>A (p.Arg252=)
|
rs199472874
|
|
NM_000238.4(KCNH2):c.754C>G (p.Arg252Gly)
|
rs199472874
|
|
NM_000238.4(KCNH2):c.754C>T (p.Arg252Trp)
|
rs199472874
|
|
NM_000238.4(KCNH2):c.756G>A (p.Arg252=)
|
rs2117004166
|
|
NM_000238.4(KCNH2):c.757dup (p.Ala253fs)
|
|
|
NM_000238.4(KCNH2):c.759G>A (p.Ala253=)
|
|
|
NM_000238.4(KCNH2):c.75G>C (p.Gln25His)
|
|
|
NM_000238.4(KCNH2):c.76+10G>A
|
rs1584885840
|
|
NM_000238.4(KCNH2):c.76+11G>A
|
|
|
NM_000238.4(KCNH2):c.76+15G>A
|
|
|
NM_000238.4(KCNH2):c.76+16G>T
|
|
|
NM_000238.4(KCNH2):c.76+17del
|
|
|
NM_000238.4(KCNH2):c.76+19T>C
|
|
|
NM_000238.4(KCNH2):c.76+1G>A
|
rs2117072529
|
|
NM_000238.4(KCNH2):c.76+20_76+35del
|
|
|
NM_000238.4(KCNH2):c.76+2T>A
|
rs794728419
|
|
NM_000238.4(KCNH2):c.76+5G>A
|
rs1802015561
|
|
NM_000238.4(KCNH2):c.76+5G>C
|
|
|
NM_000238.4(KCNH2):c.76+6T>C
|
|
|
NM_000238.4(KCNH2):c.76+8G>A
|
rs755499118
|
|
NM_000238.4(KCNH2):c.76+9G>A
|
|
|
NM_000238.4(KCNH2):c.765C>A (p.Ser255Arg)
|
|
|
NM_000238.4(KCNH2):c.765C>T (p.Ser255=)
|
rs2117004097
|
|
NM_000238.4(KCNH2):c.767T>C (p.Leu256Pro)
|
|
|
NM_000238.4(KCNH2):c.767dup (p.Asn257fs)
|
|
|
NM_000238.4(KCNH2):c.769_854delinsGAGCCCGAGGCGT (p.Asn257fs)
|
|
|
NM_000238.4(KCNH2):c.76A>G (p.Ser26Gly)
|
rs1802015752
|
|
NM_000238.4(KCNH2):c.76_76+1del
|
rs1563193513
|
|
NM_000238.4(KCNH2):c.77-10del
|
rs2117064069
|
|
NM_000238.4(KCNH2):c.77-16C>T
|
|
|
NM_000238.4(KCNH2):c.77-18T>C
|
|
|
NM_000238.4(KCNH2):c.77-19C>G
|
rs2117064110
|
|
NM_000238.4(KCNH2):c.77-1G>A
|
rs794728406
|
|
NM_000238.4(KCNH2):c.77-3_77-2dup
|
rs1554431003
|
|
NM_000238.4(KCNH2):c.77-3del
|
|
|
NM_000238.4(KCNH2):c.77-4C>T
|
rs1584883545
|
|
NM_000238.4(KCNH2):c.77-5C>A
|
rs72549419
|
|
NM_000238.4(KCNH2):c.77-5C>G
|
rs72549419
|
|
NM_000238.4(KCNH2):c.77-5C>T
|
rs72549419
|
|
NM_000238.4(KCNH2):c.77-6C>G
|
rs1474982625
|
|
NM_000238.4(KCNH2):c.77-6C>T
|
rs1474982625
|
|
NM_000238.4(KCNH2):c.77-7C>A
|
|
|
NM_000238.4(KCNH2):c.77-9C>T
|
rs1311500123
|
|
NM_000238.4(KCNH2):c.772C>T (p.Pro258Ser)
|
rs773928705
|
|
NM_000238.4(KCNH2):c.774_780del (p.Asp259fs)
|
rs1801444435
|
|
NM_000238.4(KCNH2):c.778G>A (p.Ala260Thr)
|
|
|
NM_000238.4(KCNH2):c.786C>A (p.Gly262=)
|
|
|
NM_000238.4(KCNH2):c.786C>T (p.Gly262=)
|
|
|
NM_000238.4(KCNH2):c.790A>C (p.Ser264Arg)
|
|
|
NM_000238.4(KCNH2):c.798C>T (p.Ser266=)
|
rs939487237
|
|
NM_000238.4(KCNH2):c.803C>G (p.Ala268Gly)
|
rs1241943196
|
|
NM_000238.4(KCNH2):c.803C>T (p.Ala268Val)
|
rs1241943196
|
|
NM_000238.4(KCNH2):c.805del (p.Arg269fs)
|
rs2117003707
|
|
NM_000238.4(KCNH2):c.807G>A (p.Arg269=)
|
|
|
NM_000238.4(KCNH2):c.809C>T (p.Thr270Met)
|
|
|
NM_000238.4(KCNH2):c.809_821del (p.Thr270fs)
|
rs2117003430
|
|
NM_000238.4(KCNH2):c.80G>A (p.Arg27His)
|
rs199472828
|
|
NM_000238.4(KCNH2):c.812G>A (p.Arg271His)
|
rs794728361
|
|
NM_000238.4(KCNH2):c.812_813del (p.Arg271fs)
|
rs1801442718
|
|
NM_000238.4(KCNH2):c.813C>T (p.Arg271=)
|
rs13230253
|
|
NM_000238.4(KCNH2):c.816C>G (p.Ser272=)
|
rs1457478171
|
|
NM_000238.4(KCNH2):c.817C>G (p.Arg273Gly)
|
rs552583527
|
|
NM_000238.4(KCNH2):c.817C>T (p.Arg273Ter)
|
rs552583527
|
|
NM_000238.4(KCNH2):c.819A>G (p.Arg273=)
|
|
|
NM_000238.4(KCNH2):c.81dup (p.Lys28Ter)
|
rs794728475
|
|
NM_000238.4(KCNH2):c.821A>G (p.Glu274Gly)
|
|
|
NM_000238.4(KCNH2):c.826del (p.Cys276fs)
|
rs794728422
|
|
NM_000238.4(KCNH2):c.829G>T (p.Ala277Ser)
|
rs1801441796
|
|
NM_000238.4(KCNH2):c.832A>T (p.Ser278Cys)
|
rs1801441560
|
|
NM_000238.4(KCNH2):c.834C>T (p.Ser278=)
|
rs1801441486
|
|
NM_000238.4(KCNH2):c.835G>A (p.Val279Met)
|
rs199472879
|
|
NM_000238.4(KCNH2):c.835del (p.Val279fs)
|
|
|
NM_000238.4(KCNH2):c.836T>G (p.Val279Gly)
|
|
|
NM_000238.4(KCNH2):c.838C>T (p.Arg280Cys)
|
rs781669869
|
|
NM_000238.4(KCNH2):c.842G>A (p.Arg281His)
|
|
|
NM_000238.4(KCNH2):c.844G>C (p.Ala282Pro)
|
rs1045234210
|
|
NM_000238.4(KCNH2):c.845C>T (p.Ala282Val)
|
|
|
NM_000238.4(KCNH2):c.848C>T (p.Ser283Leu)
|
|
|
NM_000238.4(KCNH2):c.849G>C (p.Ser283=)
|
rs1801440759
|
|
NM_000238.4(KCNH2):c.84del (p.Lys28fs)
|
rs1584883517
|
|
NM_000238.4(KCNH2):c.850_868del (p.Ser284fs)
|
rs794728427
|
|
NM_000238.4(KCNH2):c.854C>T (p.Ala285Val)
|
rs947793868
|
|
NM_000238.4(KCNH2):c.855C>G (p.Ala285=)
|
rs1475464155
|
|
NM_000238.4(KCNH2):c.855C>T (p.Ala285=)
|
|
|
NM_000238.4(KCNH2):c.856GAC[3] (p.Asp287_Ile288insAsp)
|
rs2117002971
|
|
NM_000238.4(KCNH2):c.860A>G (p.Asp287Gly)
|
|
|
NM_000238.4(KCNH2):c.865G>C (p.Glu289Gln)
|
|
|
NM_000238.4(KCNH2):c.866A>G (p.Glu289Gly)
|
|
|
NM_000238.4(KCNH2):c.868G>C (p.Ala290Pro)
|
rs532891158
|
|
NM_000238.4(KCNH2):c.870C>A (p.Ala290=)
|
|
|
NM_000238.4(KCNH2):c.872T>C (p.Met291Thr)
|
rs199472881
|
|
NM_000238.4(KCNH2):c.872T>G (p.Met291Arg)
|
rs199472881
|
|
NM_000238.4(KCNH2):c.876C>T (p.Arg292=)
|
|
|
NM_000238.4(KCNH2):c.877_878delinsTT (p.Ala293Phe)
|
rs1801438942
|
|
NM_000238.4(KCNH2):c.879C>A (p.Ala293=)
|
|
|
NM_000238.4(KCNH2):c.87C>A (p.Phe29Leu)
|
rs199472830
|
|
NM_000238.4(KCNH2):c.87C>T (p.Phe29=)
|
rs199472830
|
|
NM_000238.4(KCNH2):c.880G>A (p.Gly294Arg)
|
rs1801438642
|
|
NM_000238.4(KCNH2):c.881G>T (p.Gly294Val)
|
rs199473549
|
|
NM_000238.4(KCNH2):c.885del (p.Leu296fs)
|
rs794728429
|
|
NM_000238.4(KCNH2):c.888G>C (p.Leu296=)
|
rs1157638570
|
|
NM_000238.4(KCNH2):c.88ATC[1] (p.Ile31del)
|
rs2117063892
|
|
NM_000238.4(KCNH2):c.890C>G (p.Pro297Arg)
|
rs2117002630
|
|
NM_000238.4(KCNH2):c.893C>T (p.Pro298Leu)
|
|
|
NM_000238.4(KCNH2):c.893del (p.Pro298fs)
|
rs1563169382
|
|
NM_000238.4(KCNH2):c.896C>T (p.Pro299Leu)
|
rs1584865137
|
|
NM_000238.4(KCNH2):c.897A>C (p.Pro299=)
|
|
|
NM_000238.4(KCNH2):c.899C>T (p.Pro300Leu)
|
rs1801437545
|
|
NM_000238.4(KCNH2):c.89T>C (p.Ile30Thr)
|
rs199472832
|
|
NM_000238.4(KCNH2):c.901C>A (p.Arg301Ser)
|
|
|
NM_000238.4(KCNH2):c.902G>T (p.Arg301Leu)
|
rs199472883
|
|
NM_000238.4(KCNH2):c.902_903delinsAT (p.Arg301His)
|
rs2117002522
|
|
NM_000238.4(KCNH2):c.904del (p.His302fs)
|
rs1801437299
|
|
NM_000238.4(KCNH2):c.906C>T (p.His302=)
|
|
|
NM_000238.4(KCNH2):c.906_910dup (p.Ser304fs)
|
rs1554427596
|
|
NM_000238.4(KCNH2):c.908C>G (p.Ala303Gly)
|
rs1165306519
|
|
NM_000238.4(KCNH2):c.909C>G (p.Ala303=)
|
|
|
NM_000238.4(KCNH2):c.910_915del (p.Ser304_Thr305del)
|
|
|
NM_000238.4(KCNH2):c.910_916+11del
|
rs1563169296
|
|
NM_000238.4(KCNH2):c.911G>A (p.Ser304Asn)
|
|
|
NM_000238.4(KCNH2):c.912C>A (p.Ser304Arg)
|
rs1801436652
|
|
NM_000238.4(KCNH2):c.912C>T (p.Ser304=)
|
rs1801436652
|
|
NM_000238.4(KCNH2):c.915C>T (p.Thr305=)
|
|
|
NM_000238.4(KCNH2):c.916+14_916+15delinsTA
|
rs2117002143
|
|
NM_000238.4(KCNH2):c.916+5G>A
|
rs1801436332
|
|
NM_000238.4(KCNH2):c.916+8C>T
|
|
|
NM_000238.4(KCNH2):c.916+9G>A
|
rs1801436106
|
|
NM_000238.4(KCNH2):c.916G>A (p.Gly306Arg)
|
|
|
NM_000238.4(KCNH2):c.916G>C (p.Gly306Arg)
|
rs199472884
|
|
NM_000238.4(KCNH2):c.916G>T (p.Gly306Trp)
|
rs199472884
|
|
NM_000238.4(KCNH2):c.917-10C>T
|
rs767322698
|
|
NM_000238.4(KCNH2):c.917-13C>T
|
|
|
NM_000238.4(KCNH2):c.917-16C>G
|
|
|
NM_000238.4(KCNH2):c.917-17G>A
|
rs1315999663
|
|
NM_000238.4(KCNH2):c.917-17G>T
|
|
|
NM_000238.4(KCNH2):c.917-2A>G
|
rs2116999316
|
|
NM_000238.4(KCNH2):c.917-5C>T
|
rs1563168459
|
|
NM_000238.4(KCNH2):c.922A>G (p.Met308Val)
|
|
|
NM_000238.4(KCNH2):c.923T>G (p.Met308Arg)
|
rs372559632
|
|
NM_000238.4(KCNH2):c.927C>T (p.His309=)
|
rs775056804
|
|
NM_000238.4(KCNH2):c.929C>A (p.Pro310Gln)
|
|
|
NM_000238.4(KCNH2):c.933G>A (p.Leu311=)
|
rs1801415043
|
|
NM_000238.4(KCNH2):c.935G>C (p.Arg312Pro)
|
|
|
NM_000238.4(KCNH2):c.935G>T (p.Arg312Leu)
|
|
|
NM_000238.4(KCNH2):c.936C>T (p.Arg312=)
|
|
|
NM_000238.4(KCNH2):c.93C>A (p.Ile31=)
|
rs745885744
|
|
NM_000238.4(KCNH2):c.93C>G (p.Ile31Met)
|
rs745885744
|
|
NM_000238.4(KCNH2):c.93C>T (p.Ile31=)
|
rs745885744
|
|
NM_000238.4(KCNH2):c.942C>T (p.Gly314=)
|
|
|
NM_000238.4(KCNH2):c.947T>A (p.Leu316His)
|
rs1801414094
|
|
NM_000238.4(KCNH2):c.94G>A (p.Ala32Thr)
|
rs199472834
|
|
NM_000238.4(KCNH2):c.954C>T (p.Ser318=)
|
|
|
NM_000238.4(KCNH2):c.955_956del (p.Thr319fs)
|
rs2116998812
|
|
NM_000238.4(KCNH2):c.959C>G (p.Ser320Trp)
|
rs199472886
|
|
NM_000238.4(KCNH2):c.959C>T (p.Ser320Leu)
|
rs199472886
|
|
NM_000238.4(KCNH2):c.960G>A (p.Ser320=)
|
rs757055211
|
|
NM_000238.4(KCNH2):c.960G>C (p.Ser320=)
|
|
|
NM_000238.4(KCNH2):c.961G>C (p.Asp321His)
|
rs886062089
|
|
NM_000238.4(KCNH2):c.967G>C (p.Asp323His)
|
|
|
NM_000238.4(KCNH2):c.96C>T (p.Ala32=)
|
|
|
NM_000238.4(KCNH2):c.972C>G (p.Leu324=)
|
|
|
NM_000238.4(KCNH2):c.973G>A (p.Val325Met)
|
rs149381387
|
|
NM_000238.4(KCNH2):c.973G>C (p.Val325Leu)
|
rs149381387
|
|
NM_000238.4(KCNH2):c.978C>T (p.Arg326=)
|
rs1346776296
|
|
NM_000238.4(KCNH2):c.978del (p.Tyr327fs)
|
|
|
NM_000238.4(KCNH2):c.979T>C (p.Tyr327His)
|
rs776431167
|
|
NM_000238.4(KCNH2):c.985A>G (p.Thr329Ala)
|
rs946110595
|
|
NM_000238.4(KCNH2):c.988A>G (p.Ile330Val)
|
rs1216093762
|
|
NM_000238.4(KCNH2):c.98A>C (p.Asn33Thr)
|
rs199473487
|
|
NM_000238.4(KCNH2):c.98A>G (p.Asn33Ser)
|
rs199473487
|
|
NM_000238.4(KCNH2):c.990T>G (p.Ile330Met)
|
|
|
NM_000238.4(KCNH2):c.991del (p.Ser331fs)
|
|
|
NM_000238.4(KCNH2):c.995A>G (p.Lys332Arg)
|
rs1801410888
|
|
NM_000238.4(KCNH2):c.99C>A (p.Asn33Lys)
|
|
|
NM_000238.4(KCNH2):c.9G>A (p.Val3=)
|
rs762691171
|
|
NM_000719.7(CACNA1C):c.1000C>T (p.Pro334Ser)
|
|
|
NM_000719.7(CACNA1C):c.1010A>T (p.Asp337Val)
|
|
|
NM_000719.7(CACNA1C):c.101C>A (p.Ala34Glu)
|
rs551396698
|
|
NM_000719.7(CACNA1C):c.1024G>A (p.Gly342Ser)
|
rs1597985542
|
|
NM_000719.7(CACNA1C):c.1031C>T (p.Thr344Ile)
|
rs200935321
|
|
NM_000719.7(CACNA1C):c.1035C>T (p.Asn345=)
|
rs1254050843
|
|
NM_000719.7(CACNA1C):c.1044C>T (p.Asn348=)
|
rs764411892
|
|
NM_000719.7(CACNA1C):c.1056C>T (p.Ala352=)
|
rs2154571843
|
|
NM_000719.7(CACNA1C):c.1057A>G (p.Met353Val)
|
rs2154571844
|
|
NM_000719.7(CACNA1C):c.105A>G (p.Ala35=)
|
rs2154136895
|
|
NM_000719.7(CACNA1C):c.1062C>T (p.Leu354=)
|
|
|
NM_000719.7(CACNA1C):c.1068G>A (p.Val356=)
|
rs778614316
|
|
NM_000719.7(CACNA1C):c.1098G>C (p.Thr366=)
|
|
|
NM_000719.7(CACNA1C):c.1099G>A (p.Asp367Asn)
|
rs1010239242
|
|
NM_000719.7(CACNA1C):c.1102G>A (p.Val368Met)
|
|
|
NM_000719.7(CACNA1C):c.1107G>C (p.Leu369=)
|
rs1021674676
|
|
NM_000719.7(CACNA1C):c.1113+11T>C
|
|
|
NM_000719.7(CACNA1C):c.1113+17G>A
|
|
|
NM_000719.7(CACNA1C):c.1113+6T>G
|
|
|
NM_000719.7(CACNA1C):c.1113+7A>C
|
|
|
NM_000719.7(CACNA1C):c.1113+9C>T
|
|
|
NM_000719.7(CACNA1C):c.1114-16C>G
|
|
|
NM_000719.7(CACNA1C):c.1114-18A>G
|
rs763200806
|
|
NM_000719.7(CACNA1C):c.1114-285A>G
|
|
|
NM_000719.7(CACNA1C):c.1114-295G>A
|
|
|
NM_000719.7(CACNA1C):c.1114-410C>A
|
rs1843666783
|
|
NM_000719.7(CACNA1C):c.1114-421C>A
|
rs755776209
|
|
NM_000719.7(CACNA1C):c.1114-421C>T
|
|
|
NM_000719.7(CACNA1C):c.1114-422T>C
|
rs780604576
|
|
NM_000719.7(CACNA1C):c.1114-422T>G
|
|
|
NM_000719.7(CACNA1C):c.1114-423T>C
|
rs2099767230
|
|
NM_000719.7(CACNA1C):c.1116C>A (p.Val372=)
|
rs2154577554
|
|
NM_000719.7(CACNA1C):c.112C>A (p.Leu38Met)
|
|
|
NM_000719.7(CACNA1C):c.1130G>C (p.Gly377Ala)
|
rs1555689622
|
|
NM_000719.7(CACNA1C):c.1141C>A (p.Pro381Thr)
|
rs786205775
|
|
NM_000719.7(CACNA1C):c.1143C>G (p.Pro381=)
|
|
|
NM_000719.7(CACNA1C):c.1151A>C (p.Tyr384Ser)
|
|
|
NM_000719.7(CACNA1C):c.1151A>G (p.Tyr384Cys)
|
|
|
NM_000719.7(CACNA1C):c.1161A>G (p.Thr387=)
|
|
|
NM_000719.7(CACNA1C):c.1167C>T (p.Ile389=)
|
rs2154577572
|
|
NM_000719.7(CACNA1C):c.1171A>C (p.Ile391Leu)
|
rs1051356
|
|
NM_000719.7(CACNA1C):c.1175G>T (p.Gly392Val)
|
rs760243734
|
|
NM_000719.7(CACNA1C):c.1179A>G (p.Ser393=)
|
rs1051361
|
|
NM_000719.7(CACNA1C):c.117C>G (p.Ala39=)
|
rs2154136907
|
|
NM_000719.7(CACNA1C):c.1185dup (p.Val396fs)
|
|
|
NM_000719.7(CACNA1C):c.118C>A (p.Pro40Thr)
|
|
|
NM_000719.7(CACNA1C):c.118C>T (p.Pro40Ser)
|
|
|
NM_000719.7(CACNA1C):c.1194C>T (p.Asn398=)
|
|
|
NM_000719.7(CACNA1C):c.1203C>T (p.Leu401=)
|
rs2099768275
|
|
NM_000719.7(CACNA1C):c.1204G>A (p.Gly402Ser)
|
rs80315385
|
|
NM_000719.7(CACNA1C):c.1216G>A (p.Gly406Arg)
|
rs79891110
|
|
NM_000719.7(CACNA1C):c.1217+12C>G
|
rs755471406
|
|
NM_000719.7(CACNA1C):c.1217+18A>T
|
|
|
NM_000719.7(CACNA1C):c.1217+9G>A
|
|
|
NM_000719.7(CACNA1C):c.1218-11_1218-8del
|
|
|
NM_000719.7(CACNA1C):c.1218-14C>T
|
|
|
NM_000719.7(CACNA1C):c.1218-16C>G
|
|
|
NM_000719.7(CACNA1C):c.1218-18T>C
|
|
|
NM_000719.7(CACNA1C):c.1218-6C>G
|
|
|
NM_000719.7(CACNA1C):c.1218-6C>T
|
rs727503833
|
|
NM_000719.7(CACNA1C):c.1229A>G (p.Lys410Arg)
|
rs2154579664
|
|
NM_000719.7(CACNA1C):c.1244C>T (p.Ala415Val)
|
rs2099787855
|
|
NM_000719.7(CACNA1C):c.1252C>A (p.Arg418=)
|
|
|
NM_000719.7(CACNA1C):c.1252C>T (p.Arg418Trp)
|
|
|
NM_000719.7(CACNA1C):c.1255G>A (p.Gly419Arg)
|
rs786205776
|
|
NM_000719.7(CACNA1C):c.125A>G (p.His42Arg)
|
rs2154136915
|
|
NM_000719.7(CACNA1C):c.1275G>A (p.Arg425=)
|
rs887707998
|
|
NM_000719.7(CACNA1C):c.1282C>G (p.Gln428Glu)
|
|
|
NM_000719.7(CACNA1C):c.1291G>C (p.Glu431Gln)
|
|
|
NM_000719.7(CACNA1C):c.129C>T (p.Ile43=)
|
rs2154136926
|
|
NM_000719.7(CACNA1C):c.12G>C (p.Glu4Asp)
|
|
|
NM_000719.7(CACNA1C):c.1302C>G (p.Leu434=)
|
rs777768545
|
|
NM_000719.7(CACNA1C):c.1307G>C (p.Gly436Ala)
|
|
|
NM_000719.7(CACNA1C):c.1332C>G (p.Ala444=)
|
|
|
NM_000719.7(CACNA1C):c.1333G>C (p.Glu445Gln)
|
rs1238581042
|
|
NM_000719.7(CACNA1C):c.1335A>C (p.Glu445Asp)
|
|
|
NM_000719.7(CACNA1C):c.1337A>G (p.Asp446Gly)
|
rs1060503452
|
|
NM_000719.7(CACNA1C):c.1338C>T (p.Asp446=)
|
rs2154579676
|
|
NM_000719.7(CACNA1C):c.1342G>T (p.Asp448Tyr)
|
rs786205746
|
|
NM_000719.7(CACNA1C):c.1342_1343delinsCT (p.Asp448Leu)
|
|
|
NM_000719.7(CACNA1C):c.1343A>C (p.Asp448Ala)
|
rs2099787973
|
|
NM_000719.7(CACNA1C):c.1345_1371dup (p.Pro449_Asp457dup)
|
rs2154579678
|
|
NM_000719.7(CACNA1C):c.1348G>C (p.Glu450Gln)
|
rs369680588
|
|
NM_000719.7(CACNA1C):c.135C>T (p.Thr45=)
|
rs749123185
|
|
NM_000719.7(CACNA1C):c.1365C>T (p.Gly455=)
|
|
|
NM_000719.7(CACNA1C):c.1366A>C (p.Met456Leu)
|
rs746887726
|
|
NM_000719.7(CACNA1C):c.1367T>G (p.Met456Arg)
|
rs2099788010
|
|
NM_000719.7(CACNA1C):c.1372GAG[1] (p.Glu459del)
|
|
|
NM_000719.7(CACNA1C):c.1374G>A (p.Glu458=)
|
|
|
NM_000719.7(CACNA1C):c.1381C>A (p.Pro461Thr)
|
rs776242172
|
|
NM_000719.7(CACNA1C):c.1383C>A (p.Pro461=)
|
|
|
NM_000719.7(CACNA1C):c.1384C>T (p.Arg462Ter)
|
rs761430418
|
|
NM_000719.7(CACNA1C):c.1385G>A (p.Arg462Gln)
|
rs794727961
|
|
NM_000719.7(CACNA1C):c.1390+10C>T
|
|
|
NM_000719.7(CACNA1C):c.1390+12TCT[2]
|
|
|
NM_000719.7(CACNA1C):c.1390+236G>A
|
rs2239099
|
|
NM_000719.7(CACNA1C):c.1390A>G (p.Met464Val)
|
rs764849976
|
|
NM_000719.7(CACNA1C):c.1391-3C>G
|
|
|
NM_000719.7(CACNA1C):c.1391-4G>A
|
|
|
NM_000719.7(CACNA1C):c.1396A>G (p.Met466Val)
|
rs1599718305
|
|
NM_000719.7(CACNA1C):c.13A>C (p.Asn5His)
|
rs886049150
|
|
NM_000719.7(CACNA1C):c.1410G>T (p.Glu470Asp)
|
rs1555774889
|
|
NM_000719.7(CACNA1C):c.1420G>T (p.Val474Phe)
|
rs765581751
|
|
NM_000719.7(CACNA1C):c.142G>C (p.Ala48Pro)
|
|
|
NM_000719.7(CACNA1C):c.142dup (p.Ala48fs)
|
rs2083404928
|
|
NM_000719.7(CACNA1C):c.144T>C (p.Ala48=)
|
rs2083406685
|
|
NM_000719.7(CACNA1C):c.1455G>A (p.Glu485=)
|
|
|
NM_000719.7(CACNA1C):c.1455G>C (p.Glu485Asp)
|
|
|
NM_000719.7(CACNA1C):c.1456G>A (p.Gly486Arg)
|
|
|
NM_000719.7(CACNA1C):c.1460A>C (p.Glu487Ala)
|
|
|
NM_000719.7(CACNA1C):c.1470G>A (p.Gly490=)
|
rs1337579827
|
|
NM_000719.7(CACNA1C):c.1476G>A (p.Arg492=)
|
rs1447946742
|
|
NM_000719.7(CACNA1C):c.1479G>A (p.Leu493=)
|
rs1555775201
|
|
NM_000719.7(CACNA1C):c.1481+10C>A
|
|
|
NM_000719.7(CACNA1C):c.1481+9G>A
|
|
|
NM_000719.7(CACNA1C):c.1482-10del
|
rs748091873
|
|
NM_000719.7(CACNA1C):c.1482-15C>T
|
rs1057521702
|
|
NM_000719.7(CACNA1C):c.1482-8T>A
|
rs2044651283
|
|
NM_000719.7(CACNA1C):c.1484A>G (p.His495Arg)
|
|
|
NM_000719.7(CACNA1C):c.148C>A (p.Leu50Met)
|
|
|
NM_000719.7(CACNA1C):c.1491C>T (p.Ile497=)
|
rs750329281
|
|
NM_000719.7(CACNA1C):c.1496A>T (p.Lys499Met)
|
|
|
NM_000719.7(CACNA1C):c.14A>G (p.Asn5Ser)
|
rs1555075958
|
|
NM_000719.7(CACNA1C):c.1500A>G (p.Ser500=)
|
|
|
NM_000719.7(CACNA1C):c.1501A>G (p.Lys501Glu)
|
rs1555785224
|
|
NM_000719.7(CACNA1C):c.1508+14dup
|
rs1428591728
|
|
NM_000719.7(CACNA1C):c.1508+19G>T
|
|
|
NM_000719.7(CACNA1C):c.1508+20C>T
|
rs1471165180
|
|
NM_000719.7(CACNA1C):c.1508+7G>T
|
|
|
NM_000719.7(CACNA1C):c.1508+9G>A
|
|
|
NM_000719.7(CACNA1C):c.1509-17C>A
|
|
|
NM_000719.7(CACNA1C):c.1509-17C>T
|
|
|
NM_000719.7(CACNA1C):c.1509-1G>A
|
rs2154593325
|
|
NM_000719.7(CACNA1C):c.1509-9C>G
|
|
|
NM_000719.7(CACNA1C):c.150G>A (p.Leu50=)
|
rs1383351740
|
|
NM_000719.7(CACNA1C):c.1519C>T (p.Arg507Cys)
|
|
|
NM_000719.7(CACNA1C):c.1523G>A (p.Arg508Gln)
|
rs762091177
|
|
NM_000719.7(CACNA1C):c.1528A>G (p.Asn510Asp)
|
|
|
NM_000719.7(CACNA1C):c.152C>T (p.Ser51Leu)
|
|
|
NM_000719.7(CACNA1C):c.1531C>T (p.Arg511Trp)
|
|
|
NM_000719.7(CACNA1C):c.1532G>A (p.Arg511Gln)
|
rs786205747
|
|
NM_000719.7(CACNA1C):c.1539C>T (p.Cys513=)
|
|
|
NM_000719.7(CACNA1C):c.153G>T (p.Ser51=)
|
rs563315606
|
|
NM_000719.7(CACNA1C):c.1549T>A (p.Cys517Ser)
|
|
|
NM_000719.7(CACNA1C):c.1552C>T (p.Arg518Cys)
|
rs786205748
|
|
NM_000719.7(CACNA1C):c.1557C>A (p.Ala519=)
|
rs186720824
|
|
NM_000719.7(CACNA1C):c.1557C>T (p.Ala519=)
|
rs186720824
|
|
NM_000719.7(CACNA1C):c.1559C>T (p.Ala520Val)
|
|
|
NM_000719.7(CACNA1C):c.1561G>A (p.Val521Ile)
|
|
|
NM_000719.7(CACNA1C):c.1569T>C (p.Ser523=)
|
rs2154593335
|
|
NM_000719.7(CACNA1C):c.1570A>G (p.Asn524Asp)
|
|
|
NM_000719.7(CACNA1C):c.1571A>G (p.Asn524Ser)
|
|
|
NM_000719.7(CACNA1C):c.1575C>T (p.Val525=)
|
rs1395286439
|
|
NM_000719.7(CACNA1C):c.1597C>T (p.Leu533=)
|
rs2050976205
|
|
NM_000719.7(CACNA1C):c.15_16del (p.Thr6fs)
|
rs786205782
|
|
NM_000719.7(CACNA1C):c.1605C>T (p.Phe535=)
|
rs1600338231
|
|
NM_000719.7(CACNA1C):c.1608C>T (p.Leu536=)
|
|
|
NM_000719.7(CACNA1C):c.1611C>T (p.Asn537=)
|
rs1193363186
|
|
NM_000719.7(CACNA1C):c.1615C>T (p.Leu539Phe)
|
|
|
NM_000719.7(CACNA1C):c.161C>T (p.Ala54Val)
|
rs775019372
|
|
NM_000719.7(CACNA1C):c.1624G>T (p.Ala542Ser)
|
rs2154593339
|
|
NM_000719.7(CACNA1C):c.162G>C (p.Ala54=)
|
rs760297846
|
|
NM_000719.7(CACNA1C):c.1635C>T (p.His545=)
|
rs1171966123
|
|
NM_000719.7(CACNA1C):c.163G>A (p.Ala55Thr)
|
rs1238098699
|
|
NM_000719.7(CACNA1C):c.1640A>C (p.Asn547Thr)
|
|
|
NM_000719.7(CACNA1C):c.1640A>G (p.Asn547Ser)
|
|
|
NM_000719.7(CACNA1C):c.1647C>T (p.Pro549=)
|
rs2154593340
|
|
NM_000719.7(CACNA1C):c.164C>A (p.Ala55Asp)
|
rs2154137004
|
|
NM_000719.7(CACNA1C):c.1659A>C (p.Thr553=)
|
|
|
NM_000719.7(CACNA1C):c.1663G>T (p.Val555Phe)
|
|
|
NM_000719.7(CACNA1C):c.1668A>C (p.Gln556His)
|
|
|
NM_000719.7(CACNA1C):c.1669+17G>T
|
|
|
NM_000719.7(CACNA1C):c.1669+7G>T
|
rs772951246
|
|
NM_000719.7(CACNA1C):c.1670-13C>T
|
|
|
NM_000719.7(CACNA1C):c.1670-19C>T
|
|
|
NM_000719.7(CACNA1C):c.1670-8C>A
|
|
|
NM_000719.7(CACNA1C):c.1670-9G>T
|
rs2154593413
|
|
NM_000719.7(CACNA1C):c.1672A>G (p.Thr558Ala)
|
rs2154593415
|
|
NM_000719.7(CACNA1C):c.1683G>A (p.Lys561=)
|
rs1203726409
|
|
NM_000719.7(CACNA1C):c.1686C>G (p.Ala562=)
|
rs748256548
|
|
NM_000719.7(CACNA1C):c.168C>G (p.Ile56Met)
|
rs763760402
|
|
NM_000719.7(CACNA1C):c.1693G>T (p.Ala565Ser)
|
|
|
NM_000719.7(CACNA1C):c.1706C>T (p.Ala569Val)
|
|
|
NM_000719.7(CACNA1C):c.1709A>G (p.Glu570Gly)
|
|
|
NM_000719.7(CACNA1C):c.1717C>T (p.Leu573=)
|
rs2154593421
|
|
NM_000719.7(CACNA1C):c.1722G>T (p.Lys574Asn)
|
rs1568469515
|
|
NM_000719.7(CACNA1C):c.1724T>C (p.Met575Thr)
|
|
|
NM_000719.7(CACNA1C):c.1730G>A (p.Ser577Asn)
|
|
|
NM_000719.7(CACNA1C):c.1732C>T (p.Leu578=)
|
rs2154593424
|
|
NM_000719.7(CACNA1C):c.1734G>C (p.Leu578=)
|
rs150692845
|
|
NM_000719.7(CACNA1C):c.1740G>A (p.Leu580=)
|
rs1373658871
|
|
NM_000719.7(CACNA1C):c.1754T>C (p.Val585Ala)
|
|
|
NM_000719.7(CACNA1C):c.1758C>G (p.Ser586=)
|
rs2154593428
|
|
NM_000719.7(CACNA1C):c.1769G>A (p.Arg590His)
|
rs761586376
|
|
NM_000719.7(CACNA1C):c.1770C>T (p.Arg590=)
|
|
|
NM_000719.7(CACNA1C):c.1776C>T (p.Asp592=)
|
|
|
NM_000719.7(CACNA1C):c.1785C>G (p.Val595=)
|
|
|
NM_000719.7(CACNA1C):c.179G>C (p.Arg60Pro)
|
rs1460962311
|
|
NM_000719.7(CACNA1C):c.17C>G (p.Thr6Arg)
|
|
|
NM_000719.7(CACNA1C):c.1818G>A (p.Val606=)
|
rs2154593435
|
|
NM_000719.7(CACNA1C):c.1824C>A (p.Thr608=)
|
rs762503774
|
|
NM_000719.7(CACNA1C):c.1828A>G (p.Ile610Val)
|
|
|
NM_000719.7(CACNA1C):c.182A>C (p.Gln61Pro)
|
rs2083416747
|
|
NM_000719.7(CACNA1C):c.182A>G (p.Gln61Arg)
|
|
|
NM_000719.7(CACNA1C):c.1839A>C (p.Pro613=)
|
rs1060504922
|
|
NM_000719.7(CACNA1C):c.1840C>T (p.Leu614=)
|
|
|
NM_000719.7(CACNA1C):c.1842G>C (p.Leu614=)
|
rs1600388690
|
|
NM_000719.7(CACNA1C):c.1851C>T (p.Ser617=)
|
rs371654949
|
|
NM_000719.7(CACNA1C):c.1852G>A (p.Val618Met)
|
rs775536781
|
|
NM_000719.7(CACNA1C):c.187A>G (p.Lys63Glu)
|
rs1555192866
|
|
NM_000719.7(CACNA1C):c.1888A>G (p.Ile630Val)
|
rs1555800433
|
|
NM_000719.7(CACNA1C):c.1892C>T (p.Thr631Met)
|
|
|
NM_000719.7(CACNA1C):c.1895+13C>T
|
|
|
NM_000719.7(CACNA1C):c.1895+14C>T
|
|
|
NM_000719.7(CACNA1C):c.1895+15del
|
|
|
NM_000719.7(CACNA1C):c.1895+19C>G
|
|
|
NM_000719.7(CACNA1C):c.1895+7G>A
|
rs767905628
|
|
NM_000719.7(CACNA1C):c.1895+7G>C
|
rs767905628
|
|
NM_000719.7(CACNA1C):c.1895+8dup
|
|
|
NM_000719.7(CACNA1C):c.1896-15_1896-13del
|
|
|
NM_000719.7(CACNA1C):c.1896-17C>G
|
rs746887798
|
|
NM_000719.7(CACNA1C):c.1896-18C>T
|
|
|
NM_000719.7(CACNA1C):c.1896-20T>C
|
|
|
NM_000719.7(CACNA1C):c.1896-3C>T
|
|
|
NM_000719.7(CACNA1C):c.1896-8G>A
|
|
|
NM_000719.7(CACNA1C):c.1896G>A (p.Arg632=)
|
rs2060521243
|
|
NM_000719.7(CACNA1C):c.18G>A (p.Thr6=)
|
|
|
NM_000719.7(CACNA1C):c.1917C>A (p.Asn639Lys)
|
rs1057524804
|
|
NM_000719.7(CACNA1C):c.1917C>G (p.Asn639Lys)
|
rs1057524804
|
|
NM_000719.7(CACNA1C):c.1917C>T (p.Asn639=)
|
rs1057524804
|
|
NM_000719.7(CACNA1C):c.1937A>C (p.Asn646Thr)
|
rs1600964368
|
|
NM_000719.7(CACNA1C):c.1938C>T (p.Asn646=)
|
rs1163407170
|
|
NM_000719.7(CACNA1C):c.1951A>G (p.Ile651Val)
|
rs1555825315
|
|
NM_000719.7(CACNA1C):c.1952T>A (p.Ile651Asn)
|
rs1060503443
|
|
NM_000719.7(CACNA1C):c.1956C>T (p.Ala652=)
|
|
|
NM_000719.7(CACNA1C):c.1962G>A (p.Leu654=)
|
|
|
NM_000719.7(CACNA1C):c.1965C>G (p.Leu655=)
|
rs775843731
|
|
NM_000719.7(CACNA1C):c.1965C>T (p.Leu655=)
|
rs775843731
|
|
NM_000719.7(CACNA1C):c.1983C>T (p.Phe661=)
|
rs1555825459
|
|
NM_000719.7(CACNA1C):c.1987A>G (p.Ile663Val)
|
|
|
NM_000719.7(CACNA1C):c.198C>G (p.Gly66=)
|
rs1060504919
|
|
NM_000719.7(CACNA1C):c.198C>T (p.Gly66=)
|
rs1060504919
|
|
NM_000719.7(CACNA1C):c.2002C>T (p.Leu668=)
|
|
|
NM_000719.7(CACNA1C):c.200G>A (p.Ser67Asn)
|
rs2083420296
|
|
NM_000719.7(CACNA1C):c.2035T>C (p.Phe679Leu)
|
|
|
NM_000719.7(CACNA1C):c.203C>T (p.Ala68Val)
|
|
|
NM_000719.7(CACNA1C):c.2047C>G (p.Gln683Glu)
|
|
|
NM_000719.7(CACNA1C):c.204T>A (p.Ala68=)
|
rs1364792147
|
|
NM_000719.7(CACNA1C):c.2055G>A (p.Arg685=)
|
rs2153223873
|
|
NM_000719.7(CACNA1C):c.2058G>A (p.Arg686=)
|
rs2153223874
|
|
NM_000719.7(CACNA1C):c.2069A>G (p.Asp690Gly)
|
rs2153223882
|
|
NM_000719.7(CACNA1C):c.206G>A (p.Gly69Asp)
|
|
|
NM_000719.7(CACNA1C):c.2090T>A (p.Leu697His)
|
|
|
NM_000719.7(CACNA1C):c.2091C>T (p.Leu697=)
|
|
|
NM_000719.7(CACNA1C):c.20G>C (p.Arg7Thr)
|
|
|
NM_000719.7(CACNA1C):c.2103+5G>A
|
rs2060554007
|
|
NM_000719.7(CACNA1C):c.2104-3C>T
|
|
|
NM_000719.7(CACNA1C):c.2115G>T (p.Gly705=)
|
|
|
NM_000719.7(CACNA1C):c.2124G>A (p.Trp708Ter)
|
rs1555828602
|
|
NM_000719.7(CACNA1C):c.215C>T (p.Thr72Ile)
|
|
|
NM_000719.7(CACNA1C):c.2178G>A (p.Gly726=)
|
rs1601019645
|
|
NM_000719.7(CACNA1C):c.217A>G (p.Ile73Val)
|
rs752877107
|
|
NM_000719.7(CACNA1C):c.2188T>A (p.Cys730Ser)
|
|
|
NM_000719.7(CACNA1C):c.21G>T (p.Arg7Ser)
|
|
|
NM_000719.7(CACNA1C):c.2224+16G>A
|
|
|
NM_000719.7(CACNA1C):c.2224+19C>T
|
|
|
NM_000719.7(CACNA1C):c.2224+22del
|
rs2153225497
|
|
NM_000719.7(CACNA1C):c.2224+78T>G
|
rs3751254
|
|
NM_000719.7(CACNA1C):c.2224+9dup
|
rs2061040966
|
|
NM_000719.7(CACNA1C):c.2225-11G>T
|
|
|
NM_000719.7(CACNA1C):c.2225-12G>T
|
|
|
NM_000719.7(CACNA1C):c.2225-8A>C
|
|
|
NM_000719.7(CACNA1C):c.2229C>T (p.Ile743=)
|
rs759734767
|
|
NM_000719.7(CACNA1C):c.2238T>C (p.Asn746=)
|
rs2153229430
|
|
NM_000719.7(CACNA1C):c.2248G>A (p.Ala750Thr)
|
|
|
NM_000719.7(CACNA1C):c.2254G>A (p.Ala752Thr)
|
|
|
NM_000719.7(CACNA1C):c.2265C>T (p.Asn755=)
|
|
|
NM_000719.7(CACNA1C):c.2268G>T (p.Leu756=)
|
rs2061708057
|
|
NM_000719.7(CACNA1C):c.2273A>T (p.Asp758Val)
|
|
|
NM_000719.7(CACNA1C):c.2278G>A (p.Glu760Lys)
|
rs1555832882
|
|
NM_000719.7(CACNA1C):c.2286_2288del (p.Thr763del)
|
rs1060503445
|
|
NM_000719.7(CACNA1C):c.2289A>T (p.Thr763=)
|
rs2061711741
|
|
NM_000719.7(CACNA1C):c.2296C>A (p.Gln766Lys)
|
|
|
NM_000719.7(CACNA1C):c.2304G>C (p.Glu768Asp)
|
|
|
NM_000719.7(CACNA1C):c.2305_2322del (p.Glu769_Glu774del)
|
|
|
NM_000719.7(CACNA1C):c.2311GAG[1] (p.Glu772del)
|
rs786205770
|
|
NM_000719.7(CACNA1C):c.2312AGGAGA[3] (p.Glu774_Arg775insLysGlu)
|
|
|
NM_000719.7(CACNA1C):c.2316G>T (p.Glu772Asp)
|
rs1219744448
|
|
NM_000719.7(CACNA1C):c.2317_2319del (p.Lys773del)
|
rs786205771
|
|
NM_000719.7(CACNA1C):c.2319G>A (p.Lys773=)
|
|
|
NM_000719.7(CACNA1C):c.2323A>C (p.Arg775=)
|
|
|
NM_000719.7(CACNA1C):c.2328G>T (p.Lys776Asn)
|
|
|
NM_000719.7(CACNA1C):c.232T>A (p.Ser78Thr)
|
rs1555193020
|
|
NM_000719.7(CACNA1C):c.2330A>G (p.Lys777Arg)
|
|
|
NM_000719.7(CACNA1C):c.2333T>C (p.Leu778Pro)
|
rs1060503447
|
|
NM_000719.7(CACNA1C):c.2337C>A (p.Ala779=)
|
rs1291124140
|
|
NM_000719.7(CACNA1C):c.2339+10T>G
|
rs1240969473
|
|
NM_000719.7(CACNA1C):c.2339+11A>C
|
|
|
NM_000719.7(CACNA1C):c.2339+16T>C
|
rs540949447
|
|
NM_000719.7(CACNA1C):c.2339+19C>G
|
rs952576649
|
|
NM_000719.7(CACNA1C):c.2339+5C>A
|
rs554086967
|
|
NM_000719.7(CACNA1C):c.2339+7C>G
|
rs748481639
|
|
NM_000719.7(CACNA1C):c.2339+7C>T
|
rs748481639
|
|
NM_000719.7(CACNA1C):c.2339+9C>G
|
rs2153229578
|
|
NM_000719.7(CACNA1C):c.2340-12C>G
|
|
|
NM_000719.7(CACNA1C):c.2340-4C>G
|
rs1157833396
|
|
NM_000719.7(CACNA1C):c.2340-6G>C
|
|
|
NM_000719.7(CACNA1C):c.2346C>T (p.Ala782=)
|
|
|
NM_000719.7(CACNA1C):c.2348G>T (p.Ser783Ile)
|
|
|
NM_000719.7(CACNA1C):c.234C>T (p.Ser78=)
|
rs1060504924
|
|
NM_000719.7(CACNA1C):c.2356A>G (p.Lys786Glu)
|
|
|
NM_000719.7(CACNA1C):c.2363A>C (p.Gln788Pro)
|
|
|
NM_000719.7(CACNA1C):c.2370G>A (p.Leu790=)
|
|
|
NM_000719.7(CACNA1C):c.2376G>A (p.Glu792=)
|
rs2153231554
|
|
NM_000719.7(CACNA1C):c.2376G>T (p.Glu792Asp)
|
rs2153231554
|
|
NM_000719.7(CACNA1C):c.237G>A (p.Thr79=)
|
rs374468402
|
|
NM_000719.7(CACNA1C):c.2380C>T (p.Pro794Ser)
|
rs2153231566
|
|
NM_000719.7(CACNA1C):c.2384C>T (p.Ala795Val)
|
|
|
NM_000719.7(CACNA1C):c.2386G>C (p.Val796Leu)
|
|
|
NM_000719.7(CACNA1C):c.2389G>A (p.Gly797Arg)
|
rs2062048841
|
|
NM_000719.7(CACNA1C):c.2392G>A (p.Glu798Lys)
|
rs1175417421
|
|
NM_000719.7(CACNA1C):c.2394A>G (p.Glu798=)
|
rs1187672149
|
|
NM_000719.7(CACNA1C):c.2397C>T (p.Ser799=)
|
rs1440491763
|
|
NM_000719.7(CACNA1C):c.2399A>C (p.Lys800Thr)
|
|
|
NM_000719.7(CACNA1C):c.2401GAG[1] (p.Glu802del)
|
rs771014370
|
|
NM_000719.7(CACNA1C):c.2405A>G (p.Glu802Gly)
|
|
|
NM_000719.7(CACNA1C):c.2407A>G (p.Lys803Glu)
|
|
|
NM_000719.7(CACNA1C):c.2408A>C (p.Lys803Thr)
|
rs2153231657
|
|
NM_000719.7(CACNA1C):c.2411T>C (p.Ile804Thr)
|
|
|
NM_000719.7(CACNA1C):c.2417T>C (p.Leu806Pro)
|
rs2062057793
|
|
NM_000719.7(CACNA1C):c.241C>T (p.Arg81Trp)
|
rs745759667
|
|
NM_000719.7(CACNA1C):c.242G>A (p.Arg81Gln)
|
rs786205767
|
|
NM_000719.7(CACNA1C):c.2430G>T (p.Thr810=)
|
|
|
NM_000719.7(CACNA1C):c.2440G>T (p.Glu814Ter)
|
rs1555835190
|
|
NM_000719.7(CACNA1C):c.2446C>T (p.Pro816Ser)
|
rs1380611135
|
|
NM_000719.7(CACNA1C):c.2455A>C (p.Thr819Pro)
|
|
|
NM_000719.7(CACNA1C):c.2455A>G (p.Thr819Ala)
|
rs1453935757
|
|
NM_000719.7(CACNA1C):c.2456C>T (p.Thr819Ile)
|
|
|
NM_000719.7(CACNA1C):c.2460+10T>C
|
rs1601147859
|
|
NM_000719.7(CACNA1C):c.2460+11G>A
|
|
|
NM_000719.7(CACNA1C):c.2460+1G>A
|
rs2153231763
|
|
NM_000719.7(CACNA1C):c.2460+5G>A
|
rs2062073653
|
|
NM_000719.7(CACNA1C):c.2460+5G>C
|
rs2062073653
|
|
NM_000719.7(CACNA1C):c.2460+8G>A
|
|
|
NM_000719.7(CACNA1C):c.2461-10G>C
|
|
|
NM_000719.7(CACNA1C):c.2461-8C>T
|
|
|
NM_000719.7(CACNA1C):c.246G>A (p.Lys82=)
|
|
|
NM_000719.7(CACNA1C):c.2470G>A (p.Asp824Asn)
|
|
|
NM_000719.7(CACNA1C):c.2481G>A (p.Gln827=)
|
rs2153232494
|
|
NM_000719.7(CACNA1C):c.2481G>C (p.Gln827His)
|
|
|
NM_000719.7(CACNA1C):c.2484C>T (p.Pro828=)
|
|
|
NM_000719.7(CACNA1C):c.2486A>T (p.Asn829Ile)
|
|
|
NM_000719.7(CACNA1C):c.248G>A (p.Arg83Gln)
|
rs774931483
|
|
NM_000719.7(CACNA1C):c.2496G>A (p.Glu832=)
|
|
|
NM_000719.7(CACNA1C):c.2512C>T (p.Pro838Ser)
|
|
|
NM_000719.7(CACNA1C):c.2530+10C>T
|
rs1601164807
|
|
NM_000719.7(CACNA1C):c.2530+5C>T
|
rs1215984072
|
|
NM_000719.7(CACNA1C):c.2531-13G>A
|
|
|
NM_000719.7(CACNA1C):c.2536G>A (p.Glu846Lys)
|
rs1295351612
|
|
NM_000719.7(CACNA1C):c.2542GAG[2] (p.Glu850del)
|
rs575583988
|
|
NM_000719.7(CACNA1C):c.2553A>G (p.Pro851=)
|
rs775270597
|
|
NM_000719.7(CACNA1C):c.2555A>C (p.Glu852Ala)
|
|
|
NM_000719.7(CACNA1C):c.2557A>G (p.Met853Val)
|
rs2066332475
|
|
NM_000719.7(CACNA1C):c.2558T>C (p.Met853Thr)
|
|
|
NM_000719.7(CACNA1C):c.2559G>A (p.Met853Ile)
|
rs2066333241
|
|
NM_000719.7(CACNA1C):c.256T>C (p.Tyr86His)
|
|
|
NM_000719.7(CACNA1C):c.2570C>G (p.Pro857Arg)
|
rs750835733
|
|
NM_000719.7(CACNA1C):c.2570C>T (p.Pro857Leu)
|
rs750835733
|
|
NM_000719.7(CACNA1C):c.2571T>C (p.Pro857=)
|
rs2153339232
|
|
NM_000719.7(CACNA1C):c.2572C>A (p.Arg858Ser)
|
rs1409860214
|
|
NM_000719.7(CACNA1C):c.2573G>A (p.Arg858His)
|
rs786205753
|
|
NM_000719.7(CACNA1C):c.2573G>T (p.Arg858Leu)
|
|
|
NM_000719.7(CACNA1C):c.2574_2579del (p.858RP[1])
|
|
|
NM_000719.7(CACNA1C):c.2579G>C (p.Arg860Pro)
|
rs730880056
|
|
NM_000719.7(CACNA1C):c.2582C>A (p.Pro861Gln)
|
|
|
NM_000719.7(CACNA1C):c.2583A>G (p.Pro861=)
|
|
|
NM_000719.7(CACNA1C):c.2585T>C (p.Leu862Pro)
|
|
|
NM_000719.7(CACNA1C):c.2586C>G (p.Leu862=)
|
rs2066343746
|
|
NM_000719.7(CACNA1C):c.2586C>T (p.Leu862=)
|
|
|
NM_000719.7(CACNA1C):c.2592G>A (p.Glu864=)
|
|
|
NM_000719.7(CACNA1C):c.2593C>G (p.Leu865Val)
|
rs752104120
|
|
NM_000719.7(CACNA1C):c.2633G>C (p.Ser878Thr)
|
rs1060503446
|
|
NM_000719.7(CACNA1C):c.2633G>T (p.Ser878Ile)
|
rs1060503446
|
|
NM_000719.7(CACNA1C):c.2635G>A (p.Ala879Thr)
|
rs1568641351
|
|
NM_000719.7(CACNA1C):c.2644A>G (p.Ile882Val)
|
|
|
NM_000719.7(CACNA1C):c.2646C>A (p.Ile882=)
|
|
|
NM_000719.7(CACNA1C):c.2649C>T (p.Phe883=)
|
|
|
NM_000719.7(CACNA1C):c.265C>G (p.Pro89Ala)
|
|
|
NM_000719.7(CACNA1C):c.2663+15T>A
|
|
|
NM_000719.7(CACNA1C):c.2663+18G>A
|
|
|
NM_000719.7(CACNA1C):c.2663+3G>A
|
|
|
NM_000719.7(CACNA1C):c.2663+4T>G
|
rs190437147
|
|
NM_000719.7(CACNA1C):c.2663+9C>T
|
rs1601458995
|
|
NM_000719.7(CACNA1C):c.2664-12T>C
|
rs2153363359
|
|
NM_000719.7(CACNA1C):c.2664-18G>A
|
|
|
NM_000719.7(CACNA1C):c.2664-20C>T
|
|
|
NM_000719.7(CACNA1C):c.2664-3C>T
|
|
|
NM_000719.7(CACNA1C):c.2664-6G>T
|
|
|
NM_000719.7(CACNA1C):c.2664G>C (p.Arg888Ser)
|
rs754046062
|
|
NM_000719.7(CACNA1C):c.2664G>T (p.Arg888Ser)
|
|
|
NM_000719.7(CACNA1C):c.266C>T (p.Pro89Leu)
|
|
|
NM_000719.7(CACNA1C):c.2674C>G (p.Gln892Glu)
|
rs1555857966
|
|
NM_000719.7(CACNA1C):c.2684G>A (p.Arg895His)
|
rs786205755
|
|
NM_000719.7(CACNA1C):c.268A>C (p.Lys90Gln)
|
rs1555193186
|
|
NM_000719.7(CACNA1C):c.2690T>A (p.Val897Asp)
|
rs2067954202
|
|
NM_000719.7(CACNA1C):c.2693A>G (p.Asn898Ser)
|
rs2067955691
|
|
NM_000719.7(CACNA1C):c.2694T>C (p.Asn898=)
|
rs2153363748
|
|
NM_000719.7(CACNA1C):c.2697C>T (p.Asp899=)
|
rs2153363781
|
|
NM_000719.7(CACNA1C):c.2699C>T (p.Thr900Met)
|
|
|
NM_000719.7(CACNA1C):c.2700G>T (p.Thr900=)
|
|
|
NM_000719.7(CACNA1C):c.2713C>T (p.Leu905=)
|
rs2153363888
|
|
NM_000719.7(CACNA1C):c.2715G>T (p.Leu905=)
|
rs573906794
|
|
NM_000719.7(CACNA1C):c.2723T>C (p.Phe908Ser)
|
|
|
NM_000719.7(CACNA1C):c.2733G>C (p.Leu911=)
|
|
|
NM_000719.7(CACNA1C):c.2751G>T (p.Leu917=)
|
|
|
NM_000719.7(CACNA1C):c.2763C>T (p.Asp921=)
|
|
|
NM_000719.7(CACNA1C):c.2764C>G (p.Pro922Ala)
|
rs1568658701
|
|
NM_000719.7(CACNA1C):c.2771A>G (p.Gln924Arg)
|
|
|
NM_000719.7(CACNA1C):c.2793T>G (p.His931Gln)
|
rs759991679
|
|
NM_000719.7(CACNA1C):c.2794-10T>G
|
rs2068755022
|
|
NM_000719.7(CACNA1C):c.2794-15C>A
|
|
|
NM_000719.7(CACNA1C):c.2794-3C>T
|
|
|
NM_000719.7(CACNA1C):c.2794-5T>C
|
rs1568666242
|
|
NM_000719.7(CACNA1C):c.2794-5del
|
rs1555860850
|
|
NM_000719.7(CACNA1C):c.2797_2798del (p.Leu933fs)
|
rs2153372148
|
|
NM_000719.7(CACNA1C):c.27C>T (p.Tyr9=)
|
rs2154502663
|
|
NM_000719.7(CACNA1C):c.2804del (p.Tyr935fs)
|
rs2068769628
|
|
NM_000719.7(CACNA1C):c.2807T>G (p.Phe936Cys)
|
rs762624889
|
|
NM_000719.7(CACNA1C):c.282C>T (p.Ser94=)
|
rs774821611
|
|
NM_000719.7(CACNA1C):c.2845G>T (p.Ala949Ser)
|
|
|
NM_000719.7(CACNA1C):c.2847T>A (p.Ala949=)
|
|
|
NM_000719.7(CACNA1C):c.284C>A (p.Thr95Asn)
|
rs759941975
|
|
NM_000719.7(CACNA1C):c.2850G>A (p.Leu950=)
|
|
|
NM_000719.7(CACNA1C):c.2853+148A>G
|
rs2068901363
|
|
NM_000719.7(CACNA1C):c.2853+158A>G
|
rs1477159760
|
|
NM_000719.7(CACNA1C):c.2853+186T>C
|
|
|
NM_000719.7(CACNA1C):c.2853+202C>T
|
|
|
NM_000719.7(CACNA1C):c.2853+216A>G
|
rs2153374222
|
|
NM_000719.7(CACNA1C):c.2853+217C>A
|
|
|
NM_000719.7(CACNA1C):c.2853+217C>T
|
rs749006268
|
|
NM_000719.7(CACNA1C):c.2853+8C>T
|
rs769463930
|
|
NM_000719.7(CACNA1C):c.2854-14G>T
|
rs751337744
|
|
NM_000719.7(CACNA1C):c.2854-18C>A
|
|
|
NM_000719.7(CACNA1C):c.2854-5T>G
|
rs2072537795
|
|
NM_000719.7(CACNA1C):c.2854-7C>T
|
rs2153406205
|
|
NM_000719.7(CACNA1C):c.2854-8C>T
|
|
|
NM_000719.7(CACNA1C):c.2885G>A (p.Gly962Asp)
|
rs2153406309
|
|
NM_000719.7(CACNA1C):c.2913C>T (p.Ile971=)
|
|
|
NM_000719.7(CACNA1C):c.2934C>T (p.Ser978=)
|
|
|
NM_000719.7(CACNA1C):c.2935G>A (p.Val979Met)
|
rs1555874590
|
|
NM_000719.7(CACNA1C):c.2937G>T (p.Val979=)
|
rs1016238751
|
|
NM_000719.7(CACNA1C):c.2940C>T (p.Ser980=)
|
|
|
NM_000719.7(CACNA1C):c.2947T>A (p.Ser983Thr)
|
rs2153406416
|
|
NM_000719.7(CACNA1C):c.2949C>T (p.Ser983=)
|
rs2153406422
|
|
NM_000719.7(CACNA1C):c.2954G>T (p.Gly985Val)
|
rs2072557832
|
|
NM_000719.7(CACNA1C):c.2958C>T (p.Ile986=)
|
rs886049203
|
|
NM_000719.7(CACNA1C):c.2960+18A>G
|
|
|
NM_000719.7(CACNA1C):c.2960+20C>G
|
|
|
NM_000719.7(CACNA1C):c.2960+4A>G
|
|
|
NM_000719.7(CACNA1C):c.2961-19G>C
|
|
|
NM_000719.7(CACNA1C):c.2961-19G>T
|
|
|
NM_000719.7(CACNA1C):c.2961-3C>T
|
|
|
NM_000719.7(CACNA1C):c.2965A>G (p.Ser989Gly)
|
rs1555878849
|
|
NM_000719.7(CACNA1C):c.2970A>G (p.Ala990=)
|
|
|
NM_000719.7(CACNA1C):c.2979C>T (p.Val993=)
|
rs1025481136
|
|
NM_000719.7(CACNA1C):c.2988C>T (p.Ile996=)
|
rs886039065
|
|
NM_000719.7(CACNA1C):c.2993G>A (p.Arg998Gln)
|
rs755609118
|
|
NM_000719.7(CACNA1C):c.3002G>A (p.Arg1001Gln)
|
rs1353433133
|
|
NM_000719.7(CACNA1C):c.300G>T (p.Pro100=)
|
|
|
NM_000719.7(CACNA1C):c.3018G>A (p.Leu1006=)
|
|
|
NM_000719.7(CACNA1C):c.3048+20A>C
|
|
|
NM_000719.7(CACNA1C):c.3048+3G>A
|
rs779548719
|
|
NM_000719.7(CACNA1C):c.3048+5G>A
|
|
|
NM_000719.7(CACNA1C):c.3049-13C>T
|
rs749065737
|
|
NM_000719.7(CACNA1C):c.3049-14C>G
|
|
|
NM_000719.7(CACNA1C):c.3049-17G>A
|
|
|
NM_000719.7(CACNA1C):c.3049-17G>T
|
|
|
NM_000719.7(CACNA1C):c.3049-18C>G
|
|
|
NM_000719.7(CACNA1C):c.3049-4G>A
|
|
|
NM_000719.7(CACNA1C):c.3049-7A>C
|
|
|
NM_000719.7(CACNA1C):c.304C>T (p.Arg102Ter)
|
|
|
NM_000719.7(CACNA1C):c.3061T>C (p.Cys1021Arg)
|
rs1057518301
|
|
NM_000719.7(CACNA1C):c.3080G>A (p.Arg1027Gln)
|
rs2153427022
|
|
NM_000719.7(CACNA1C):c.3088G>A (p.Gly1030Arg)
|
rs1427052106
|
|
NM_000719.7(CACNA1C):c.3096C>A (p.Ile1032=)
|
|
|
NM_000719.7(CACNA1C):c.3097G>A (p.Val1033Met)
|
rs2075018681
|
|
NM_000719.7(CACNA1C):c.309C>T (p.Ala103=)
|
rs757538469
|
|
NM_000719.7(CACNA1C):c.30T>C (p.Ile10=)
|
rs1383697367
|
|
NM_000719.7(CACNA1C):c.3106A>G (p.Thr1036Ala)
|
rs2153427070
|
|
NM_000719.7(CACNA1C):c.3107C>G (p.Thr1036Ser)
|
rs2075019291
|
|
NM_000719.7(CACNA1C):c.3110C>G (p.Thr1037Ser)
|
|
|
NM_000719.7(CACNA1C):c.3117G>A (p.Leu1039=)
|
|
|
NM_000719.7(CACNA1C):c.3129T>C (p.Phe1043=)
|
|
|
NM_000719.7(CACNA1C):c.3132C>T (p.Ala1044=)
|
|
|
NM_000719.7(CACNA1C):c.3139G>A (p.Gly1047Arg)
|
rs2075024622
|
|
NM_000719.7(CACNA1C):c.3140G>C (p.Gly1047Ala)
|
rs2153427151
|
|
NM_000719.7(CACNA1C):c.3150C>T (p.Leu1050=)
|
|
|
NM_000719.7(CACNA1C):c.3156+10G>T
|
|
|
NM_000719.7(CACNA1C):c.3156+12G>T
|
|
|
NM_000719.7(CACNA1C):c.3156+16C>T
|
|
|
NM_000719.7(CACNA1C):c.3156+5A>G
|
|
|
NM_000719.7(CACNA1C):c.3157-10T>C
|
rs1337865643
|
|
NM_000719.7(CACNA1C):c.3157-11C>T
|
|
|
NM_000719.7(CACNA1C):c.3157-328G>T
|
rs215991
|
|
NM_000719.7(CACNA1C):c.3157-8C>A
|
|
|
NM_000719.7(CACNA1C):c.3159A>G (p.Gly1053=)
|
rs764298283
|
|
NM_000719.7(CACNA1C):c.3180C>T (p.Asp1060=)
|
rs2153431200
|
|
NM_000719.7(CACNA1C):c.3181A>G (p.Ser1061Gly)
|
|
|
NM_000719.7(CACNA1C):c.318C>T (p.Cys106=)
|
|
|
NM_000719.7(CACNA1C):c.3201G>C (p.Ala1067=)
|
rs758461435
|
|
NM_000719.7(CACNA1C):c.3209+15G>C
|
|
|
NM_000719.7(CACNA1C):c.3209+19G>T
|
|
|
NM_000719.7(CACNA1C):c.3209+7A>G
|
|
|
NM_000719.7(CACNA1C):c.3210-12C>T
|
|
|
NM_000719.7(CACNA1C):c.3210-16_3210-14del
|
|
|
NM_000719.7(CACNA1C):c.3210-19C>A
|
rs775045125
|
|
NM_000719.7(CACNA1C):c.3210-19_3210-17del
|
|
|
NM_000719.7(CACNA1C):c.3216C>A (p.Asn1072Lys)
|
rs1555882391
|
|
NM_000719.7(CACNA1C):c.3225G>T (p.Thr1075=)
|
rs1229921966
|
|
NM_000719.7(CACNA1C):c.3234C>A (p.Asp1078Glu)
|
rs111606207
|
|
NM_000719.7(CACNA1C):c.3240G>A (p.Glu1080=)
|
rs1555882488
|
|
NM_000719.7(CACNA1C):c.3244G>A (p.Asp1082Asn)
|
|
|
NM_000719.7(CACNA1C):c.3248A>G (p.His1083Arg)
|
|
|
NM_000719.7(CACNA1C):c.324C>T (p.Thr108=)
|
|
|
NM_000719.7(CACNA1C):c.3252C>G (p.Pro1084=)
|
|
|
NM_000719.7(CACNA1C):c.3261A>G (p.Gln1087=)
|
|
|
NM_000719.7(CACNA1C):c.3262C>A (p.Pro1088Thr)
|
|
|
NM_000719.7(CACNA1C):c.3262C>G (p.Pro1088Ala)
|
rs1384280348
|
|
NM_000719.7(CACNA1C):c.3263C>A (p.Pro1088His)
|
|
|
NM_000719.7(CACNA1C):c.3265C>T (p.Arg1089Cys)
|
rs2075701336
|
|
NM_000719.7(CACNA1C):c.3274G>A (p.Glu1092Lys)
|
|
|
NM_000719.7(CACNA1C):c.3281G>A (p.Ser1094Asn)
|
rs1165009288
|
|
NM_000719.7(CACNA1C):c.3311C>G (p.Ala1104Gly)
|
rs987119986
|
|
NM_000719.7(CACNA1C):c.3311C>T (p.Ala1104Val)
|
rs987119986
|
|
NM_000719.7(CACNA1C):c.3324C>A (p.Leu1108=)
|
rs2153433279
|
|
NM_000719.7(CACNA1C):c.3327C>T (p.Phe1109=)
|
rs2075712869
|
|
NM_000719.7(CACNA1C):c.3343G>A (p.Glu1115Lys)
|
rs199473391
|
|
NM_000719.7(CACNA1C):c.3344A>G (p.Glu1115Gly)
|
rs1555882813
|
|
NM_000719.7(CACNA1C):c.3347G>C (p.Gly1116Ala)
|
rs878854141
|
|
NM_000719.7(CACNA1C):c.3356+15C>A
|
rs1330501233
|
|
NM_000719.7(CACNA1C):c.3356+20C>T
|
|
|
NM_000719.7(CACNA1C):c.3356+561C>A
|
rs113442303
|
|
NM_000719.7(CACNA1C):c.3356+8T>C
|
rs2153433417
|
|
NM_000719.7(CACNA1C):c.3357-16C>G
|
rs201876309
|
|
NM_000719.7(CACNA1C):c.3357-19G>A
|
|
|
NM_000719.7(CACNA1C):c.3357-20G>A
|
rs769877763
|
|
NM_000719.7(CACNA1C):c.3357-4G>A
|
|
|
NM_000719.7(CACNA1C):c.3357-6C>T
|
|
|
NM_000719.7(CACNA1C):c.3357-7_3357-5del
|
rs748106344
|
|
NM_000719.7(CACNA1C):c.3368G>A (p.Arg1123His)
|
rs745853358
|
|
NM_000719.7(CACNA1C):c.3370T>A (p.Ser1124Thr)
|
|
|
NM_000719.7(CACNA1C):c.3373A>G (p.Ile1125Val)
|
rs727503834
|
|
NM_000719.7(CACNA1C):c.3376G>A (p.Asp1126Asn)
|
|
|
NM_000719.7(CACNA1C):c.3393C>T (p.Asp1131=)
|
rs1180370037
|
|
NM_000719.7(CACNA1C):c.3398G>A (p.Gly1133Asp)
|
rs1555884489
|
|
NM_000719.7(CACNA1C):c.3399C>T (p.Gly1133=)
|
rs749617983
|
|
NM_000719.7(CACNA1C):c.33A>G (p.Pro11=)
|
|
|
NM_000719.7(CACNA1C):c.3405C>A (p.Ile1135=)
|
rs1324768943
|
|
NM_000719.7(CACNA1C):c.3405C>G (p.Ile1135Met)
|
rs1324768943
|
|
NM_000719.7(CACNA1C):c.340C>A (p.Arg114=)
|
rs758229132
|
|
NM_000719.7(CACNA1C):c.3410A>G (p.Asn1137Ser)
|
|
|
NM_000719.7(CACNA1C):c.3420G>A (p.Val1140=)
|
rs1555884613
|
|
NM_000719.7(CACNA1C):c.3434T>C (p.Phe1145Ser)
|
|
|
NM_000719.7(CACNA1C):c.3441C>T (p.Ile1147=)
|
rs899600937
|
|
NM_000719.7(CACNA1C):c.3448ATC[3] (p.Ile1153del)
|
rs1601930701
|
|
NM_000719.7(CACNA1C):c.3454A>T (p.Ile1152Phe)
|
rs767564907
|
|
NM_000719.7(CACNA1C):c.345G>A (p.Arg115=)
|
|
|
NM_000719.7(CACNA1C):c.3460G>A (p.Ala1154Thr)
|
rs1601930985
|
|
NM_000719.7(CACNA1C):c.3460G>T (p.Ala1154Ser)
|
rs1601930985
|
|
NM_000719.7(CACNA1C):c.3473T>A (p.Met1158Lys)
|
rs2076323856
|
|
NM_000719.7(CACNA1C):c.3484G>A (p.Val1162Met)
|
|
|
NM_000719.7(CACNA1C):c.3489C>T (p.Gly1163=)
|
rs1057522786
|
|
NM_000719.7(CACNA1C):c.3495C>G (p.Val1165=)
|
rs1428160387
|
|
NM_000719.7(CACNA1C):c.3499G>A (p.Val1167Ile)
|
rs2076328331
|
|
NM_000719.7(CACNA1C):c.3500T>C (p.Val1167Ala)
|
rs2153440081
|
|
NM_000719.7(CACNA1C):c.3522G>A (p.Glu1174=)
|
rs779571274
|
|
NM_000719.7(CACNA1C):c.352A>G (p.Ile118Val)
|
|
|
NM_000719.7(CACNA1C):c.3534G>T (p.Lys1178Asn)
|
rs868413395
|
|
NM_000719.7(CACNA1C):c.3539G>A (p.Cys1180Tyr)
|
|
|
NM_000719.7(CACNA1C):c.3552G>T (p.Lys1184Asn)
|
rs2076336777
|
|
NM_000719.7(CACNA1C):c.3558+13G>A
|
|
|
NM_000719.7(CACNA1C):c.3558+17G>A
|
|
|
NM_000719.7(CACNA1C):c.3558+20C>A
|
rs747852949
|
|
NM_000719.7(CACNA1C):c.3558+20C>T
|
|
|
NM_000719.7(CACNA1C):c.3558+4G>A
|
|
|
NM_000719.7(CACNA1C):c.3559-12C>T
|
rs2153449709
|
|
NM_000719.7(CACNA1C):c.3559-14C>T
|
|
|
NM_000719.7(CACNA1C):c.3559-15C>T
|
|
|
NM_000719.7(CACNA1C):c.3559-17C>T
|
rs897046930
|
|
NM_000719.7(CACNA1C):c.3559-5C>T
|
|
|
NM_000719.7(CACNA1C):c.3589C>A (p.Arg1197=)
|
|
|
NM_000719.7(CACNA1C):c.3597G>A (p.Leu1199=)
|
|
|
NM_000719.7(CACNA1C):c.360T>C (p.Ile120=)
|
rs2154137225
|
|
NM_000719.7(CACNA1C):c.3621G>A (p.Gln1207=)
|
|
|
NM_000719.7(CACNA1C):c.3627G>T (p.Gln1209His)
|
|
|
NM_000719.7(CACNA1C):c.363C>G (p.Val121=)
|
|
|
NM_000719.7(CACNA1C):c.3643G>A (p.Val1215Met)
|
rs747533547
|
|
NM_000719.7(CACNA1C):c.3646G>A (p.Val1216Ile)
|
|
|
NM_000719.7(CACNA1C):c.3648C>T (p.Val1216=)
|
rs1057521327
|
|
NM_000719.7(CACNA1C):c.3659A>G (p.Tyr1220Cys)
|
|
|
NM_000719.7(CACNA1C):c.3660C>T (p.Tyr1220=)
|
rs1602005148
|
|
NM_000719.7(CACNA1C):c.3663C>G (p.Phe1221Leu)
|
rs369646222
|
|
NM_000719.7(CACNA1C):c.3669C>T (p.Tyr1223=)
|
|
|
NM_000719.7(CACNA1C):c.3678C>G (p.Phe1226Leu)
|
rs775309900
|
|
NM_000719.7(CACNA1C):c.3678C>T (p.Phe1226=)
|
rs775309900
|
|
NM_000719.7(CACNA1C):c.3687C>A (p.Ile1229=)
|
rs1602005761
|
|
NM_000719.7(CACNA1C):c.3696C>T (p.Asn1232=)
|
|
|
NM_000719.7(CACNA1C):c.3702C>T (p.Ile1234=)
|
rs1602006284
|
|
NM_000719.7(CACNA1C):c.3705C>T (p.Cys1235=)
|
|
|
NM_000719.7(CACNA1C):c.3706C>T (p.Leu1236=)
|
rs1032468475
|
|
NM_000719.7(CACNA1C):c.371+13C>T
|
|
|
NM_000719.7(CACNA1C):c.371+16C>G
|
|
|
NM_000719.7(CACNA1C):c.371+20C>T
|
|
|
NM_000719.7(CACNA1C):c.3717+14G>A
|
|
|
NM_000719.7(CACNA1C):c.3717+15G>C
|
rs969140430
|
|
NM_000719.7(CACNA1C):c.3717+16A>G
|
|
|
NM_000719.7(CACNA1C):c.3717+7C>A
|
|
|
NM_000719.7(CACNA1C):c.3718-14C>G
|
rs1555888662
|
|
NM_000719.7(CACNA1C):c.3718-14C>T
|
|
|
NM_000719.7(CACNA1C):c.3718-16C>T
|
|
|
NM_000719.7(CACNA1C):c.3718-17C>G
|
|
|
NM_000719.7(CACNA1C):c.3718-4G>A
|
|
|
NM_000719.7(CACNA1C):c.372-10C>G
|
|
|
NM_000719.7(CACNA1C):c.372-17T>C
|
|
|
NM_000719.7(CACNA1C):c.372-18C>T
|
|
|
NM_000719.7(CACNA1C):c.372-64T>C
|
rs1596372167
|
|
NM_000719.7(CACNA1C):c.3724G>A (p.Gly1242Ser)
|
rs1131691881
|
|
NM_000719.7(CACNA1C):c.3748G>T (p.Ala1250Ser)
|
rs373930708
|
|
NM_000719.7(CACNA1C):c.3749C>T (p.Ala1250Val)
|
|
|
NM_000719.7(CACNA1C):c.3766A>T (p.Met1256Leu)
|
|
|
NM_000719.7(CACNA1C):c.3789C>T (p.Thr1263=)
|
rs765393806
|
|
NM_000719.7(CACNA1C):c.3802C>T (p.Leu1268=)
|
|
|
NM_000719.7(CACNA1C):c.3810C>T (p.Leu1270=)
|
|
|
NM_000719.7(CACNA1C):c.3812T>C (p.Ile1271Thr)
|
rs2078042038
|
|
NM_000719.7(CACNA1C):c.3819C>G (p.Phe1273Leu)
|
|
|
NM_000719.7(CACNA1C):c.3824C>T (p.Pro1275Leu)
|
rs1568791833
|
|
NM_000719.7(CACNA1C):c.3828+177G>A
|
rs114441162
|
|
NM_000719.7(CACNA1C):c.3828+17G>A
|
|
|
NM_000719.7(CACNA1C):c.3828+19C>A
|
|
|
NM_000719.7(CACNA1C):c.3828+5G>A
|
|
|
NM_000719.7(CACNA1C):c.3828+5G>T
|
rs2078046814
|
|
NM_000719.7(CACNA1C):c.3829-152A>C
|
rs1603006225
|
|
NM_000719.7(CACNA1C):c.3829-6A>G
|
|
|
NM_000719.7(CACNA1C):c.3829-85C>A
|
rs1206288485
|
|
NM_000719.7(CACNA1C):c.3834T>C (p.Tyr1278=)
|
|
|
NM_000719.7(CACNA1C):c.3837C>T (p.Phe1279=)
|
|
|
NM_000719.7(CACNA1C):c.3839G>T (p.Cys1280Phe)
|
|
|
NM_000719.7(CACNA1C):c.3846A>C (p.Ala1282=)
|
rs1367812313
|
|
NM_000719.7(CACNA1C):c.3852T>C (p.Asn1284=)
|
rs1603021612
|
|
NM_000719.7(CACNA1C):c.3861C>T (p.Asp1287=)
|
|
|
NM_000719.7(CACNA1C):c.3862G>A (p.Ala1288Thr)
|
rs367895193
|
|
NM_000719.7(CACNA1C):c.3862G>T (p.Ala1288Ser)
|
|
|
NM_000719.7(CACNA1C):c.3873T>C (p.Val1291=)
|
|
|
NM_000719.7(CACNA1C):c.3876G>A (p.Val1292=)
|
|
|
NM_000719.7(CACNA1C):c.3894A>T (p.Ile1298=)
|
rs2153572525
|
|
NM_000719.7(CACNA1C):c.3898A>G (p.Ile1300Val)
|
rs1603022300
|
|
NM_000719.7(CACNA1C):c.3903C>G (p.Thr1301=)
|
rs1489840314
|
|
NM_000719.7(CACNA1C):c.3904G>A (p.Glu1302Lys)
|
rs886038890
|
|
NM_000719.7(CACNA1C):c.3906G>C (p.Glu1302Asp)
|
|
|
NM_000719.7(CACNA1C):c.3912+13C>T
|
|
|
NM_000719.7(CACNA1C):c.3912+9A>C
|
rs1380438006
|
|
NM_000719.7(CACNA1C):c.3913-18A>G
|
|
|
NM_000719.7(CACNA1C):c.3913C>A (p.Pro1305Thr)
|
|
|
NM_000719.7(CACNA1C):c.3926C>G (p.Thr1309Ser)
|
rs2094568640
|
|
NM_000719.7(CACNA1C):c.3932G>A (p.Cys1311Tyr)
|
|
|
NM_000719.7(CACNA1C):c.3934T>C (p.Ser1312Pro)
|
rs749298267
|
|
NM_000719.7(CACNA1C):c.3945+10A>T
|
rs2153638149
|
|
NM_000719.7(CACNA1C):c.3945+17C>A
|
|
|
NM_000719.7(CACNA1C):c.3945+17C>T
|
rs375789498
|
|
NM_000719.7(CACNA1C):c.3945+17del
|
|
|
NM_000719.7(CACNA1C):c.3945+19A>C
|
|
|
NM_000719.7(CACNA1C):c.3945+7C>G
|
|
|
NM_000719.7(CACNA1C):c.3946-10C>G
|
rs370630496
|
|
NM_000719.7(CACNA1C):c.3946-13C>G
|
|
|
NM_000719.7(CACNA1C):c.3946-13C>T
|
rs757785634
|
|
NM_000719.7(CACNA1C):c.3946-15G>C
|
|
|
NM_000719.7(CACNA1C):c.3946-7G>A
|
rs1060504923
|
|
NM_000719.7(CACNA1C):c.3946-8G>T
|
|
|
NM_000719.7(CACNA1C):c.3951A>G (p.Ala1317=)
|
rs1444937156
|
|
NM_000719.7(CACNA1C):c.3965G>T (p.Arg1322Leu)
|
|
|
NM_000719.7(CACNA1C):c.3976A>G (p.Thr1326Ala)
|
rs1164784884
|
|
NM_000719.7(CACNA1C):c.3981C>T (p.Phe1327=)
|
|
|
NM_000719.7(CACNA1C):c.3990G>A (p.Leu1330=)
|
|
|
NM_000719.7(CACNA1C):c.3995G>A (p.Arg1332Gln)
|
rs2153655235
|
|
NM_000719.7(CACNA1C):c.3996G>A (p.Arg1332=)
|
|
|
NM_000719.7(CACNA1C):c.3G>T (p.Met1Ile)
|
|
|
NM_000719.7(CACNA1C):c.4015C>T (p.Leu1339=)
|
|
|
NM_000719.7(CACNA1C):c.4020G>C (p.Leu1340=)
|
rs775743198
|
|
NM_000719.7(CACNA1C):c.4024C>T (p.Arg1342Cys)
|
rs2094999086
|
|
NM_000719.7(CACNA1C):c.4025G>A (p.Arg1342His)
|
rs1365999989
|
|
NM_000719.7(CACNA1C):c.4028G>A (p.Gly1343Glu)
|
|
|
NM_000719.7(CACNA1C):c.4029G>A (p.Gly1343=)
|
rs1437448208
|
|
NM_000719.7(CACNA1C):c.4032G>A (p.Glu1344=)
|
rs2153655310
|
|
NM_000719.7(CACNA1C):c.4048C>T (p.Leu1350=)
|
|
|
NM_000719.7(CACNA1C):c.4056C>T (p.Thr1352=)
|
|
|
NM_000719.7(CACNA1C):c.4068C>A (p.Ser1356=)
|
rs765091519
|
|
NM_000719.7(CACNA1C):c.4071C>T (p.Phe1357=)
|
|
|
NM_000719.7(CACNA1C):c.4074+10C>T
|
rs564029809
|
|
NM_000719.7(CACNA1C):c.4075-7del
|
rs951281182
|
|
NM_000719.7(CACNA1C):c.4080G>A (p.Leu1360=)
|
rs2153664259
|
|
NM_000719.7(CACNA1C):c.4083C>T (p.Pro1361=)
|
rs529645023
|
|
NM_000719.7(CACNA1C):c.4101C>T (p.Ile1367=)
|
|
|
NM_000719.7(CACNA1C):c.4102G>A (p.Val1368Met)
|
|
|
NM_000719.7(CACNA1C):c.4102G>T (p.Val1368Leu)
|
rs1234874360
|
|
NM_000719.7(CACNA1C):c.4108C>T (p.Leu1370=)
|
|
|
NM_000719.7(CACNA1C):c.4110G>A (p.Leu1370=)
|
|
|
NM_000719.7(CACNA1C):c.4123G>A (p.Ala1375Thr)
|
|
|
NM_000719.7(CACNA1C):c.4125G>A (p.Ala1375=)
|
|
|
NM_000719.7(CACNA1C):c.4135A>G (p.Met1379Val)
|
rs2095262521
|
|
NM_000719.7(CACNA1C):c.4140+12C>T
|
|
|
NM_000719.7(CACNA1C):c.4140+20G>A
|
|
|
NM_000719.7(CACNA1C):c.4140+20G>C
|
rs377631971
|
|
NM_000719.7(CACNA1C):c.4140+77G>T
|
rs114714957
|
|
NM_000719.7(CACNA1C):c.4141-11C>A
|
rs2153668732
|
|
NM_000719.7(CACNA1C):c.4141-18C>G
|
|
|
NM_000719.7(CACNA1C):c.4141-20C>T
|
|
|
NM_000719.7(CACNA1C):c.4141-5C>T
|
rs1603374438
|
|
NM_000719.7(CACNA1C):c.4164T>C (p.Asn1388=)
|
|
|
NM_000719.7(CACNA1C):c.4165G>T (p.Asp1389Tyr)
|
rs768062636
|
|
NM_000719.7(CACNA1C):c.4176G>A (p.Glu1392=)
|
rs1603374773
|
|
NM_000719.7(CACNA1C):c.4176G>C (p.Glu1392Asp)
|
rs1603374773
|
|
NM_000719.7(CACNA1C):c.4185G>A (p.Arg1395=)
|
rs2153668917
|
|
NM_000719.7(CACNA1C):c.4188C>T (p.Asn1396=)
|
rs2153668929
|
|
NM_000719.7(CACNA1C):c.4193A>G (p.Asn1398Ser)
|
|
|
NM_000719.7(CACNA1C):c.4202C>G (p.Thr1401Ser)
|
rs2153668947
|
|
NM_000719.7(CACNA1C):c.4210C>G (p.Gln1404Glu)
|
|
|
NM_000719.7(CACNA1C):c.4213del (p.Ala1405fs)
|
rs2095348902
|
|
NM_000719.7(CACNA1C):c.4215C>G (p.Ala1405=)
|
|
|
NM_000719.7(CACNA1C):c.4216G>A (p.Val1406Met)
|
rs753204879
|
|
NM_000719.7(CACNA1C):c.4219C>T (p.Leu1407=)
|
|
|
NM_000719.7(CACNA1C):c.4232+11G>A
|
rs2153669098
|
|
NM_000719.7(CACNA1C):c.4232+18T>G
|
rs779157902
|
|
NM_000719.7(CACNA1C):c.4232+9C>G
|
|
|
NM_000719.7(CACNA1C):c.4233-12C>G
|
|
|
NM_000719.7(CACNA1C):c.4233-16T>C
|
|
|
NM_000719.7(CACNA1C):c.4233-5T>G
|
rs1407708004
|
|
NM_000719.7(CACNA1C):c.4233-6C>A
|
rs1377204108
|
|
NM_000719.7(CACNA1C):c.4233-9C>G
|
|
|
NM_000719.7(CACNA1C):c.423A>T (p.Leu141Phe)
|
|
|
NM_000719.7(CACNA1C):c.425C>T (p.Ala142Val)
|
|
|
NM_000719.7(CACNA1C):c.4279C>G (p.Pro1427Ala)
|
rs2153706726
|
|
NM_000719.7(CACNA1C):c.4290G>A (p.Lys1430=)
|
|
|
NM_000719.7(CACNA1C):c.4290G>C (p.Lys1430Asn)
|
rs767790076
|
|
NM_000719.7(CACNA1C):c.4302G>A (p.Glu1434=)
|
rs2153706773
|
|
NM_000719.7(CACNA1C):c.4305dup (p.Glu1436fs)
|
|
|
NM_000719.7(CACNA1C):c.4312A>G (p.Ser1438Gly)
|
|
|
NM_000719.7(CACNA1C):c.4313G>C (p.Ser1438Thr)
|
|
|
NM_000719.7(CACNA1C):c.4317C>A (p.Asn1439Lys)
|
|
|
NM_000719.7(CACNA1C):c.4329T>C (p.Gly1443=)
|
|
|
NM_000719.7(CACNA1C):c.4334C>T (p.Thr1445Ile)
|
rs1555994788
|
|
NM_000719.7(CACNA1C):c.4336C>A (p.Pro1446Thr)
|
rs758143691
|
|
NM_000719.7(CACNA1C):c.4336C>G (p.Pro1446Ala)
|
rs758143691
|
|
NM_000719.7(CACNA1C):c.4349G>A (p.Ser1450Asn)
|
rs1009822245
|
|
NM_000719.7(CACNA1C):c.4357G>A (p.Val1453Ile)
|
rs1275537466
|
|
NM_000719.7(CACNA1C):c.4369A>T (p.Ile1457Phe)
|
rs781315664
|
|
NM_000719.7(CACNA1C):c.4370T>C (p.Ile1457Thr)
|
|
|
NM_000719.7(CACNA1C):c.4389T>C (p.Cys1463=)
|
rs1060504918
|
|
NM_000719.7(CACNA1C):c.4398+12G>A
|
|
|
NM_000719.7(CACNA1C):c.4398+17C>T
|
|
|
NM_000719.7(CACNA1C):c.4399-8C>T
|
|
|
NM_000719.7(CACNA1C):c.4410C>G (p.Leu1470=)
|
rs2153709475
|
|
NM_000719.7(CACNA1C):c.4416A>G (p.Val1472=)
|
|
|
NM_000719.7(CACNA1C):c.4432A>C (p.Asn1478His)
|
rs2096050552
|
|
NM_000719.7(CACNA1C):c.4446G>C (p.Leu1482=)
|
rs2153709538
|
|
NM_000719.7(CACNA1C):c.444A>G (p.Pro148=)
|
|
|
NM_000719.7(CACNA1C):c.4458G>C (p.Trp1486Cys)
|
|
|
NM_000719.7(CACNA1C):c.4479C>T (p.His1493=)
|
|
|
NM_000719.7(CACNA1C):c.447A>G (p.Glu149=)
|
rs1297869395
|
|
NM_000719.7(CACNA1C):c.4488G>A (p.Glu1496=)
|
rs2153709581
|
|
NM_000719.7(CACNA1C):c.450T>C (p.Asp150=)
|
rs2086035884
|
|
NM_000719.7(CACNA1C):c.4511A>G (p.Tyr1504Cys)
|
rs2153709630
|
|
NM_000719.7(CACNA1C):c.4515C>T (p.Asp1505=)
|
|
|
NM_000719.7(CACNA1C):c.4519G>A (p.Glu1507Lys)
|
|
|
NM_000719.7(CACNA1C):c.4522G>A (p.Ala1508Thr)
|
|
|
NM_000719.7(CACNA1C):c.4526+6T>C
|
|
|
NM_000719.7(CACNA1C):c.4526+9C>G
|
rs1473029850
|
|
NM_000719.7(CACNA1C):c.4527-14C>T
|
rs769815718
|
|
NM_000719.7(CACNA1C):c.4527-6T>C
|
rs1239248123
|
|
NM_000719.7(CACNA1C):c.4527-7C>T
|
rs1057522340
|
|
NM_000719.7(CACNA1C):c.4527-9C>G
|
|
|
NM_000719.7(CACNA1C):c.4527G>A (p.Lys1509=)
|
|
|
NM_000719.7(CACNA1C):c.4531C>T (p.Arg1511Cys)
|
rs2096134235
|
|
NM_000719.7(CACNA1C):c.4533T>A (p.Arg1511=)
|
|
|
NM_000719.7(CACNA1C):c.4533T>C (p.Arg1511=)
|
rs1060504920
|
|
NM_000719.7(CACNA1C):c.4565G>A (p.Arg1522Gln)
|
rs1420232852
|
|
NM_000719.7(CACNA1C):c.4567C>T (p.Arg1523Trp)
|
|
|
NM_000719.7(CACNA1C):c.456C>T (p.Ser152=)
|
rs776532518
|
|
NM_000719.7(CACNA1C):c.4574A>C (p.Gln1525Pro)
|
rs2153713256
|
|
NM_000719.7(CACNA1C):c.4577del (p.Pro1526fs)
|
|
|
NM_000719.7(CACNA1C):c.457A>G (p.Asn153Asp)
|
|
|
NM_000719.7(CACNA1C):c.4582C>T (p.Leu1528=)
|
rs2153713290
|
|
NM_000719.7(CACNA1C):c.4609C>T (p.Arg1537Cys)
|
|
|
NM_000719.7(CACNA1C):c.4623+12C>T
|
|
|
NM_000719.7(CACNA1C):c.4623+16G>A
|
|
|
NM_000719.7(CACNA1C):c.4623+16G>T
|
|
|
NM_000719.7(CACNA1C):c.4623+20A>G
|
rs1440822075
|
|
NM_000719.7(CACNA1C):c.4623+20A>T
|
|
|
NM_000719.7(CACNA1C):c.4623+4A>G
|
|
|
NM_000719.7(CACNA1C):c.4623+9T>C
|
|
|
NM_000719.7(CACNA1C):c.4623+9_4623+10del
|
rs1415722013
|
|
NM_000719.7(CACNA1C):c.4624-19T>C
|
|
|
NM_000719.7(CACNA1C):c.4624-4G>A
|
rs886049205
|
|
NM_000719.7(CACNA1C):c.4624-6del
|
rs2153728993
|
|
NM_000719.7(CACNA1C):c.4624-8G>T
|
rs529345041
|
|
NM_000719.7(CACNA1C):c.4625G>A (p.Arg1542His)
|
rs771053661
|
|
NM_000719.7(CACNA1C):c.4625G>T (p.Arg1542Leu)
|
rs771053661
|
|
NM_000719.7(CACNA1C):c.4632C>T (p.Val1544=)
|
|
|
NM_000719.7(CACNA1C):c.4637T>C (p.Met1546Thr)
|
rs2096394299
|
|
NM_000719.7(CACNA1C):c.4653C>G (p.Asn1551Lys)
|
rs2096394447
|
|
NM_000719.7(CACNA1C):c.4653C>T (p.Asn1551=)
|
|
|
NM_000719.7(CACNA1C):c.4666_4669dup (p.Met1557fs)
|
rs2096394881
|
|
NM_000719.7(CACNA1C):c.4668C>T (p.Val1556=)
|
|
|
NM_000719.7(CACNA1C):c.467A>G (p.Asn156Ser)
|
|
|
NM_000719.7(CACNA1C):c.4683C>T (p.Thr1561=)
|
rs1603435300
|
|
NM_000719.7(CACNA1C):c.4686G>A (p.Leu1562=)
|
|
|
NM_000719.7(CACNA1C):c.468T>C (p.Asn156=)
|
|
|
NM_000719.7(CACNA1C):c.4692C>A (p.Ala1564=)
|
|
|
NM_000719.7(CACNA1C):c.4692C>T (p.Ala1564=)
|
rs2153729290
|
|
NM_000719.7(CACNA1C):c.4703C>T (p.Thr1568Met)
|
|
|
NM_000719.7(CACNA1C):c.4705G>A (p.Ala1569Thr)
|
rs1603435357
|
|
NM_000719.7(CACNA1C):c.4708C>T (p.Leu1570=)
|
|
|
NM_000719.7(CACNA1C):c.4723G>A (p.Glu1575Lys)
|
|
|
NM_000719.7(CACNA1C):c.4726+12C>G
|
rs531900229
|
|
NM_000719.7(CACNA1C):c.4726+13G>A
|
rs561365937
|
|
NM_000719.7(CACNA1C):c.4726+13G>T
|
|
|
NM_000719.7(CACNA1C):c.4726+15G>A
|
|
|
NM_000719.7(CACNA1C):c.4726+19A>G
|
|
|
NM_000719.7(CACNA1C):c.4726+6G>T
|
|
|
NM_000719.7(CACNA1C):c.4726+73dup
|
rs3834937
|
|
NM_000719.7(CACNA1C):c.4727-45C>T
|
|
|
NM_000719.7(CACNA1C):c.4727-6C>T
|
rs886042224
|
|
NM_000719.7(CACNA1C):c.4737A>G (p.Glu1579=)
|
|
|
NM_000719.7(CACNA1C):c.4743C>G (p.Ala1581=)
|
rs1053126937
|
|
NM_000719.7(CACNA1C):c.474C>T (p.Asn158=)
|
|
|
NM_000719.7(CACNA1C):c.4753C>G (p.Leu1585Val)
|
|
|
NM_000719.7(CACNA1C):c.4755G>A (p.Leu1585=)
|
|
|
NM_000719.7(CACNA1C):c.475C>T (p.Leu159=)
|
|
|
NM_000719.7(CACNA1C):c.4760C>A (p.Ala1587Glu)
|
|
|
NM_000719.7(CACNA1C):c.4760C>T (p.Ala1587Val)
|
rs751224055
|
|
NM_000719.7(CACNA1C):c.4761G>A (p.Ala1587=)
|
rs756364065
|
|
NM_000719.7(CACNA1C):c.4761G>T (p.Ala1587=)
|
rs756364065
|
|
NM_000719.7(CACNA1C):c.477+116797C>T
|
rs2159100
|
|
NM_000719.7(CACNA1C):c.477+11C>T
|
|
|
NM_000719.7(CACNA1C):c.477+15C>G
|
|
|
NM_000719.7(CACNA1C):c.477+17C>G
|
|
|
NM_000719.7(CACNA1C):c.477+17C>T
|
rs1418690794
|
|
NM_000719.7(CACNA1C):c.477+8C>T
|
rs763228787
|
|
NM_000719.7(CACNA1C):c.4773G>T (p.Lys1591Asn)
|
rs786205763
|
|
NM_000719.7(CACNA1C):c.4776C>A (p.Ile1592=)
|
|
|
NM_000719.7(CACNA1C):c.478-10T>C
|
rs1414468096
|
|
NM_000719.7(CACNA1C):c.478-11_478-10del
|
rs750093371
|
|
NM_000719.7(CACNA1C):c.478-17C>T
|
|
|
NM_000719.7(CACNA1C):c.478-3T>C
|
rs2154562852
|
|
NM_000719.7(CACNA1C):c.478-6T>G
|
rs769218160
|
|
NM_000719.7(CACNA1C):c.478-8T>C
|
|
|
NM_000719.7(CACNA1C):c.478-9G>A
|
rs1339837769
|
|
NM_000719.7(CACNA1C):c.4783C>T (p.Arg1595Trp)
|
|
|
NM_000719.7(CACNA1C):c.4784G>A (p.Arg1595Gln)
|
rs1313283709
|
|
NM_000719.7(CACNA1C):c.4793T>C (p.Met1598Thr)
|
rs2153756848
|
|
NM_000719.7(CACNA1C):c.4796A>G (p.Lys1599Arg)
|
|
|
NM_000719.7(CACNA1C):c.4797G>A (p.Lys1599=)
|
rs2153756922
|
|
NM_000719.7(CACNA1C):c.4804G>A (p.Asp1602Asn)
|
rs2096712046
|
|
NM_000719.7(CACNA1C):c.481C>A (p.Arg161=)
|
|
|
NM_000719.7(CACNA1C):c.4821T>C (p.Pro1607=)
|
rs2096712361
|
|
NM_000719.7(CACNA1C):c.4828+16A>T
|
|
|
NM_000719.7(CACNA1C):c.4828+19C>G
|
|
|
NM_000719.7(CACNA1C):c.4828+1G>A
|
rs2153757423
|
|
NM_000719.7(CACNA1C):c.4829-14_4829-8del
|
rs2153787106
|
|
NM_000719.7(CACNA1C):c.4829-17C>G
|
|
|
NM_000719.7(CACNA1C):c.4829-17C>T
|
|
|
NM_000719.7(CACNA1C):c.4830T>G (p.Asp1610Glu)
|
rs2153787228
|
|
NM_000719.7(CACNA1C):c.4837G>T (p.Val1613Phe)
|
rs757629968
|
|
NM_000719.7(CACNA1C):c.4839C>A (p.Val1613=)
|
|
|
NM_000719.7(CACNA1C):c.483A>G (p.Arg161=)
|
|
|
NM_000719.7(CACNA1C):c.4842C>T (p.Thr1614=)
|
rs779550437
|
|
NM_000719.7(CACNA1C):c.4843G>A (p.Val1615Ile)
|
|
|
NM_000719.7(CACNA1C):c.4858G>A (p.Ala1620Thr)
|
rs2096864308
|
|
NM_000719.7(CACNA1C):c.4869G>T (p.Leu1623=)
|
|
|
NM_000719.7(CACNA1C):c.486G>A (p.Val162=)
|
rs1555599597
|
|
NM_000719.7(CACNA1C):c.4878G>A (p.Glu1626=)
|
rs2153787347
|
|
NM_000719.7(CACNA1C):c.4879T>A (p.Tyr1627Asn)
|
rs2096864586
|
|
NM_000719.7(CACNA1C):c.4887G>A (p.Arg1629=)
|
rs768891783
|
|
NM_000719.7(CACNA1C):c.4893C>T (p.Phe1631=)
|
rs1388985790
|
|
NM_000719.7(CACNA1C):c.49+20C>T
|
|
|
NM_000719.7(CACNA1C):c.49+255G>A
|
rs11062092
|
|
NM_000719.7(CACNA1C):c.49+6G>A
|
|
|
NM_000719.7(CACNA1C):c.4908G>A (p.Glu1636=)
|
|
|
NM_000719.7(CACNA1C):c.4910A>G (p.Gln1637Arg)
|
|
|
NM_000719.7(CACNA1C):c.4911G>C (p.Gln1637His)
|
|
|
NM_000719.7(CACNA1C):c.4912G>A (p.Gly1638Ser)
|
|
|
NM_000719.7(CACNA1C):c.4914C>T (p.Gly1638=)
|
rs2096865452
|
|
NM_000719.7(CACNA1C):c.4917T>C (p.Leu1639=)
|
rs886049206
|
|
NM_000719.7(CACNA1C):c.4918G>A (p.Val1640Met)
|
rs2096865558
|
|
NM_000719.7(CACNA1C):c.4923C>A (p.Gly1641=)
|
|
|
NM_000719.7(CACNA1C):c.4941C>G (p.Asn1647Lys)
|
rs773832706
|
|
NM_000719.7(CACNA1C):c.4942G>C (p.Ala1648Pro)
|
|
|
NM_000719.7(CACNA1C):c.4949C>G (p.Ser1650Cys)
|
rs2153787618
|
|
NM_000719.7(CACNA1C):c.4956+10T>G
|
rs1603448949
|
|
NM_000719.7(CACNA1C):c.4956+11G>C
|
|
|
NM_000719.7(CACNA1C):c.4956+12G>A
|
|
|
NM_000719.7(CACNA1C):c.4956+15G>A
|
|
|
NM_000719.7(CACNA1C):c.4956+18G>T
|
|
|
NM_000719.7(CACNA1C):c.4956+7G>A
|
|
|
NM_000719.7(CACNA1C):c.4957-20A>G
|
rs2153790979
|
|
NM_000719.7(CACNA1C):c.4957-222G>C
|
rs2302730
|
|
NM_000719.7(CACNA1C):c.4958C>T (p.Ala1653Val)
|
|
|
NM_000719.7(CACNA1C):c.4966C>A (p.Arg1656Ser)
|
rs752021213
|
|
NM_000719.7(CACNA1C):c.4966C>T (p.Arg1656Cys)
|
rs752021213
|
|
NM_000719.7(CACNA1C):c.4967G>A (p.Arg1656His)
|
rs2096898275
|
|
NM_000719.7(CACNA1C):c.4970C>A (p.Thr1657Lys)
|
rs2153791120
|
|
NM_000719.7(CACNA1C):c.4984G>A (p.Gly1662Arg)
|
rs778011390
|
|
NM_000719.7(CACNA1C):c.4984G>C (p.Gly1662Arg)
|
|
|
NM_000719.7(CACNA1C):c.50-10T>G
|
rs2083369755
|
|
NM_000719.7(CACNA1C):c.50-14C>A
|
rs1195250797
|
|
NM_000719.7(CACNA1C):c.50-14C>G
|
|
|
NM_000719.7(CACNA1C):c.50-1G>C
|
|
|
NM_000719.7(CACNA1C):c.50-6C>T
|
|
|
NM_000719.7(CACNA1C):c.5000G>A (p.Arg1667Gln)
|
|
|
NM_000719.7(CACNA1C):c.5026GAG[2] (p.Glu1678del)
|
rs786205773
|
|
NM_000719.7(CACNA1C):c.5033A>G (p.Glu1678Gly)
|
rs786205781
|
|
NM_000719.7(CACNA1C):c.5034G>A (p.Glu1678=)
|
rs863224373
|
|
NM_000719.7(CACNA1C):c.5038G>A (p.Asp1680Asn)
|
rs2153791339
|
|
NM_000719.7(CACNA1C):c.5039A>G (p.Asp1680Gly)
|
rs1556050949
|
|
NM_000719.7(CACNA1C):c.5040C>T (p.Asp1680=)
|
|
|
NM_000719.7(CACNA1C):c.5043G>A (p.Lys1681=)
|
|
|
NM_000719.7(CACNA1C):c.5047A>C (p.Met1683Leu)
|
|
|
NM_000719.7(CACNA1C):c.5048T>C (p.Met1683Thr)
|
rs1231959976
|
|
NM_000719.7(CACNA1C):c.5048T>G (p.Met1683Arg)
|
rs1231959976
|
|
NM_000719.7(CACNA1C):c.5060T>A (p.Val1687Glu)
|
|
|
NM_000719.7(CACNA1C):c.5065GCT[1] (p.Ala1690del)
|
rs1569209887
|
|
NM_000719.7(CACNA1C):c.5077G>A (p.Asp1693Asn)
|
rs2096900883
|
|
NM_000719.7(CACNA1C):c.5083A>G (p.Ile1695Val)
|
|
|
NM_000719.7(CACNA1C):c.5084T>C (p.Ile1695Thr)
|
rs1479799949
|
|
NM_000719.7(CACNA1C):c.5088C>T (p.Phe1696=)
|
|
|
NM_000719.7(CACNA1C):c.5091+12C>T
|
|
|
NM_000719.7(CACNA1C):c.5091+14T>C
|
rs2153791607
|
|
NM_000719.7(CACNA1C):c.5091+18G>C
|
|
|
NM_000719.7(CACNA1C):c.5091+4G>C
|
rs2096901252
|
|
NM_000719.7(CACNA1C):c.5092-15_5092-14dup
|
|
|
NM_000719.7(CACNA1C):c.5092-19C>A
|
|
|
NM_000719.7(CACNA1C):c.5092-19C>T
|
rs2097014318
|
|
NM_000719.7(CACNA1C):c.5092-4A>G
|
rs764167894
|
|
NM_000719.7(CACNA1C):c.5092-4A>T
|
|
|
NM_000719.7(CACNA1C):c.5092-8G>T
|
|
|
NM_000719.7(CACNA1C):c.5098G>C (p.Gly1700Arg)
|
rs761966966
|
|
NM_000719.7(CACNA1C):c.50G>A (p.Gly17Asp)
|
rs747083495
|
|
NM_000719.7(CACNA1C):c.50G>C (p.Gly17Ala)
|
rs747083495
|
|
NM_000719.7(CACNA1C):c.5109C>G (p.Phe1703Leu)
|
rs767569416
|
|
NM_000719.7(CACNA1C):c.5116C>G (p.His1706Asp)
|
rs949737894
|
|
NM_000719.7(CACNA1C):c.5118C>G (p.His1706Gln)
|
|
|
NM_000719.7(CACNA1C):c.5125T>C (p.Tyr1709His)
|
|
|
NM_000719.7(CACNA1C):c.5128T>A (p.Tyr1710Asn)
|
|
|
NM_000719.7(CACNA1C):c.5133A>G (p.Gln1711=)
|
|
|
NM_000719.7(CACNA1C):c.5139C>A (p.Asp1713Glu)
|
rs115216455
|
|
NM_000719.7(CACNA1C):c.5141G>T (p.Gly1714Val)
|
|
|
NM_000719.7(CACNA1C):c.5143C>T (p.Arg1715Trp)
|
rs373996684
|
|
NM_000719.7(CACNA1C):c.5145G>C (p.Arg1715=)
|
rs761205516
|
|
NM_000719.7(CACNA1C):c.5150C>T (p.Ala1717Val)
|
rs201492706
|
|
NM_000719.7(CACNA1C):c.5151C>G (p.Ala1717=)
|
rs1292968645
|
|
NM_000719.7(CACNA1C):c.5158C>G (p.Gln1720Glu)
|
rs1008863902
|
|
NM_000719.7(CACNA1C):c.5162C>T (p.Thr1721Ile)
|
|
|
NM_000719.7(CACNA1C):c.5172T>C (p.Thr1724=)
|
|
|
NM_000719.7(CACNA1C):c.5174A>C (p.Gln1725Pro)
|
rs1440200184
|
|
NM_000719.7(CACNA1C):c.5176C>T (p.Arg1726Cys)
|
|
|
NM_000719.7(CACNA1C):c.5178C>T (p.Arg1726=)
|
rs2097020052
|
|
NM_000719.7(CACNA1C):c.5180C>T (p.Pro1727Leu)
|
rs2153803252
|
|
NM_000719.7(CACNA1C):c.5182C>T (p.Leu1728=)
|
rs1603450747
|
|
NM_000719.7(CACNA1C):c.5190CAA[1] (p.Asn1731del)
|
|
|
NM_000719.7(CACNA1C):c.5191A>G (p.Asn1731Asp)
|
|
|
NM_000719.7(CACNA1C):c.5202C>G (p.Gly1734=)
|
rs769124319
|
|
NM_000719.7(CACNA1C):c.520G>C (p.Ala174Pro)
|
rs2154562867
|
|
NM_000719.7(CACNA1C):c.5213G>A (p.Gly1738Asp)
|
|
|
NM_000719.7(CACNA1C):c.5214C>A (p.Gly1738=)
|
rs199538058
|
|
NM_000719.7(CACNA1C):c.5214C>T (p.Gly1738=)
|
rs199538058
|
|
NM_000719.7(CACNA1C):c.521C>G (p.Ala174Gly)
|
|
|
NM_000719.7(CACNA1C):c.521C>T (p.Ala174Val)
|
|
|
NM_000719.7(CACNA1C):c.5223G>A (p.Glu1741=)
|
rs1372760091
|
|
NM_000719.7(CACNA1C):c.5245G>A (p.Val1749Met)
|
rs1556109769
|
|
NM_000719.7(CACNA1C):c.5247G>A (p.Val1749=)
|
rs2153803500
|
|
NM_000719.7(CACNA1C):c.5252C>G (p.Ser1751Cys)
|
rs2153803516
|
|
NM_000719.7(CACNA1C):c.5254A>G (p.Thr1752Ala)
|
rs1603450773
|
|
NM_000719.7(CACNA1C):c.5264C>T (p.Pro1755Leu)
|
rs755513147
|
|
NM_000719.7(CACNA1C):c.5270G>A (p.Ser1757Asn)
|
rs753388569
|
|
NM_000719.7(CACNA1C):c.5271C>T (p.Ser1757=)
|
|
|
NM_000719.7(CACNA1C):c.5284G>A (p.Gly1762Ser)
|
|
|
NM_000719.7(CACNA1C):c.5286C>G (p.Gly1762=)
|
rs748717675
|
|
NM_000719.7(CACNA1C):c.5294C>A (p.Ala1765Asp)
|
rs2097024221
|
|
NM_000719.7(CACNA1C):c.5295C>T (p.Ala1765=)
|
|
|
NM_000719.7(CACNA1C):c.5299A>G (p.Ile1767Val)
|
rs2153803721
|
|
NM_000719.7(CACNA1C):c.5300_5314del (p.Ile1767_Asn1771del)
|
rs765818401
|
|
NM_000719.7(CACNA1C):c.5300_5314dup (p.Asn1771_Asn1772insIleAsnAsnAlaAsn)
|
|
|
NM_000719.7(CACNA1C):c.5304C>T (p.Asn1768=)
|
|
|
NM_000719.7(CACNA1C):c.5308G>A (p.Ala1770Thr)
|
rs912150219
|
|
NM_000719.7(CACNA1C):c.5315A>C (p.Asn1772Thr)
|
|
|
NM_000719.7(CACNA1C):c.531A>G (p.Lys177=)
|
|
|
NM_000719.7(CACNA1C):c.5320G>T (p.Ala1774Ser)
|
|
|
NM_000719.7(CACNA1C):c.5321C>T (p.Ala1774Val)
|
|
|
NM_000719.7(CACNA1C):c.5322C>G (p.Ala1774=)
|
rs2097025327
|
|
NM_000719.7(CACNA1C):c.5323C>T (p.Leu1775=)
|
rs1603450804
|
|
NM_000719.7(CACNA1C):c.5325G>A (p.Leu1775=)
|
rs1049183237
|
|
NM_000719.7(CACNA1C):c.5334C>A (p.Leu1778=)
|
|
|
NM_000719.7(CACNA1C):c.5339G>T (p.Arg1780Leu)
|
rs756829999
|
|
NM_000719.7(CACNA1C):c.5344G>C (p.Ala1782Pro)
|
rs750078053
|
|
NM_000719.7(CACNA1C):c.5346C>G (p.Ala1782=)
|
rs369254461
|
|
NM_000719.7(CACNA1C):c.5346C>T (p.Ala1782=)
|
rs369254461
|
|
NM_000719.7(CACNA1C):c.5347G>A (p.Gly1783Ser)
|
|
|
NM_000719.7(CACNA1C):c.5347G>T (p.Gly1783Cys)
|
rs781633980
|
|
NM_000719.7(CACNA1C):c.5353C>A (p.Pro1785Thr)
|
|
|
NM_000719.7(CACNA1C):c.5355C>T (p.Pro1785=)
|
|
|
NM_000719.7(CACNA1C):c.5371G>A (p.Val1791Met)
|
|
|
NM_000719.7(CACNA1C):c.537C>A (p.Ile179=)
|
|
|
NM_000719.7(CACNA1C):c.5380C>T (p.His1794Tyr)
|
rs2153804093
|
|
NM_000719.7(CACNA1C):c.5382C>A (p.His1794Gln)
|
rs377680168
|
|
NM_000719.7(CACNA1C):c.5385G>T (p.Gly1795=)
|
rs1569224830
|
|
NM_000719.7(CACNA1C):c.5386C>A (p.Pro1796Thr)
|
rs760430207
|
|
NM_000719.7(CACNA1C):c.5407C>A (p.Arg1803=)
|
|
|
NM_000719.7(CACNA1C):c.5408G>C (p.Arg1803Pro)
|
rs201918158
|
|
NM_000719.7(CACNA1C):c.5410G>T (p.Val1804Leu)
|
|
|
NM_000719.7(CACNA1C):c.5413C>G (p.Gln1805Glu)
|
rs2153804286
|
|
NM_000719.7(CACNA1C):c.5416G>A (p.Glu1806Lys)
|
|
|
NM_000719.7(CACNA1C):c.5417A>G (p.Glu1806Gly)
|
rs757371746
|
|
NM_000719.7(CACNA1C):c.5418G>A (p.Glu1806=)
|
|
|
NM_000719.7(CACNA1C):c.541T>C (p.Tyr181His)
|
rs2099328222
|
|
NM_000719.7(CACNA1C):c.5423C>G (p.Ala1808Gly)
|
rs745997744
|
|
NM_000719.7(CACNA1C):c.5436C>T (p.Ser1812=)
|
|
|
NM_000719.7(CACNA1C):c.543T>C (p.Tyr181=)
|
|
|
NM_000719.7(CACNA1C):c.5444+13C>A
|
|
|
NM_000719.7(CACNA1C):c.5444+13C>T
|
|
|
NM_000719.7(CACNA1C):c.5444+20C>T
|
rs1233609944
|
|
NM_000719.7(CACNA1C):c.5445-3T>C
|
|
|
NM_000719.7(CACNA1C):c.5445-4G>A
|
|
|
NM_000719.7(CACNA1C):c.5468C>G (p.Ala1823Gly)
|
|
|
NM_000719.7(CACNA1C):c.5474T>C (p.Met1825Thr)
|
|
|
NM_000719.7(CACNA1C):c.5480G>A (p.Gly1827Asp)
|
rs1374608352
|
|
NM_000719.7(CACNA1C):c.5485GAG[1] (p.Glu1830del)
|
rs1603457578
|
|
NM_000719.7(CACNA1C):c.5500G>A (p.Asp1834Asn)
|
|
|
NM_000719.7(CACNA1C):c.5502T>G (p.Asp1834Glu)
|
rs754547434
|
|
NM_000719.7(CACNA1C):c.5503G>A (p.Glu1835Lys)
|
rs1060503442
|
|
NM_000719.7(CACNA1C):c.5511T>C (p.Tyr1837=)
|
|
|
NM_000719.7(CACNA1C):c.5514A>G (p.Glu1838=)
|
|
|
NM_000719.7(CACNA1C):c.5520G>A (p.Lys1840=)
|
|
|
NM_000719.7(CACNA1C):c.5522T>A (p.Met1841Lys)
|
|
|
NM_000719.7(CACNA1C):c.5525A>C (p.Asn1842Thr)
|
rs886049207
|
|
NM_000719.7(CACNA1C):c.5525A>G (p.Asn1842Ser)
|
rs886049207
|
|
NM_000719.7(CACNA1C):c.5529T>G (p.His1843Gln)
|
rs371831239
|
|
NM_000719.7(CACNA1C):c.5532C>T (p.Asp1844=)
|
rs1196232443
|
|
NM_000719.7(CACNA1C):c.5534C>T (p.Thr1845Met)
|
rs779315017
|
|
NM_000719.7(CACNA1C):c.5535G>T (p.Thr1845=)
|
rs746271719
|
|
NM_000719.7(CACNA1C):c.5538G>A (p.Glu1846=)
|
rs1603457634
|
|
NM_000719.7(CACNA1C):c.5547T>C (p.Ser1849=)
|
|
|
NM_000719.7(CACNA1C):c.5561T>C (p.Leu1854Pro)
|
rs1556205510
|
|
NM_000719.7(CACNA1C):c.5567C>G (p.Thr1856Arg)
|
rs976958765
|
|
NM_000719.7(CACNA1C):c.5569G>A (p.Glu1857Lys)
|
rs1330775539
|
|
NM_000719.7(CACNA1C):c.5570A>G (p.Glu1857Gly)
|
|
|
NM_000719.7(CACNA1C):c.5573+12T>C
|
rs2153818170
|
|
NM_000719.7(CACNA1C):c.5573+16C>T
|
|
|
NM_000719.7(CACNA1C):c.5573+6C>T
|
|
|
NM_000719.7(CACNA1C):c.5573+8C>T
|
rs2153818145
|
|
NM_000719.7(CACNA1C):c.5574-16G>A
|
|
|
NM_000719.7(CACNA1C):c.5574-18A>G
|
|
|
NM_000719.7(CACNA1C):c.5577C>T (p.Leu1859=)
|
rs1193794181
|
|
NM_000719.7(CACNA1C):c.5580C>A (p.Ser1860=)
|
|
|
NM_000719.7(CACNA1C):c.5585A>G (p.Gln1862Arg)
|
|
|
NM_000719.7(CACNA1C):c.558C>T (p.His186=)
|
rs1596540994
|
|
NM_000719.7(CACNA1C):c.5590G>A (p.Asp1864Asn)
|
|
|
NM_000719.7(CACNA1C):c.5592C>T (p.Asp1864=)
|
rs748240245
|
|
NM_000719.7(CACNA1C):c.5598T>C (p.Asn1866=)
|
rs1202853506
|
|
NM_000719.7(CACNA1C):c.5612T>G (p.Leu1871Arg)
|
rs2153834664
|
|
NM_000719.7(CACNA1C):c.5619G>C (p.Glu1873Asp)
|
|
|
NM_000719.7(CACNA1C):c.5619GGA[1] (p.Glu1874del)
|
rs757172314
|
|
NM_000719.7(CACNA1C):c.5620G>A (p.Glu1874Lys)
|
|
|
NM_000719.7(CACNA1C):c.5623G>C (p.Asp1875His)
|
|
|
NM_000719.7(CACNA1C):c.5636T>C (p.Ile1879Thr)
|
|
|
NM_000719.7(CACNA1C):c.5636T>G (p.Ile1879Ser)
|
rs2097428184
|
|
NM_000719.7(CACNA1C):c.563A>G (p.Asn188Ser)
|
|
|
NM_000719.7(CACNA1C):c.5668T>C (p.Ser1890Pro)
|
|
|
NM_000719.7(CACNA1C):c.5676A>G (p.Ser1892=)
|
|
|
NM_000719.7(CACNA1C):c.5680+11C>T
|
rs66611965
|
|
NM_000719.7(CACNA1C):c.5680+12G>A
|
rs761437891
|
|
NM_000719.7(CACNA1C):c.5680+12G>C
|
|
|
NM_000719.7(CACNA1C):c.5680+12G>T
|
|
|
NM_000719.7(CACNA1C):c.5680+15C>G
|
|
|
NM_000719.7(CACNA1C):c.5680+16G>A
|
rs755308153
|
|
NM_000719.7(CACNA1C):c.5680G>A (p.Gly1894Ser)
|
rs2097429400
|
|
NM_000719.7(CACNA1C):c.5681-15T>C
|
|
|
NM_000719.7(CACNA1C):c.5681G>A (p.Gly1894Asp)
|
rs370682334
|
|
NM_000719.7(CACNA1C):c.5687G>A (p.Arg1896Lys)
|
rs2153836170
|
|
NM_000719.7(CACNA1C):c.5692T>C (p.Ser1898Pro)
|
rs2097473904
|
|
NM_000719.7(CACNA1C):c.5701C>T (p.Leu1901=)
|
|
|
NM_000719.7(CACNA1C):c.5706A>G (p.Glu1902=)
|
rs537002656
|
|
NM_000719.7(CACNA1C):c.5716C>A (p.Arg1906=)
|
|
|
NM_000719.7(CACNA1C):c.5716C>T (p.Arg1906Ter)
|
rs78593627
|
|
NM_000719.7(CACNA1C):c.5717G>T (p.Arg1906Leu)
|
|
|
NM_000719.7(CACNA1C):c.5728C>G (p.Arg1910Gly)
|
rs1556291640
|
|
NM_000719.7(CACNA1C):c.5731G>A (p.Gly1911Arg)
|
rs374528680
|
|
NM_000719.7(CACNA1C):c.5735G>A (p.Gly1912Glu)
|
rs2097476034
|
|
NM_000719.7(CACNA1C):c.5739C>A (p.Asp1913Glu)
|
rs1391330801
|
|
NM_000719.7(CACNA1C):c.5739C>T (p.Asp1913=)
|
rs1391330801
|
|
NM_000719.7(CACNA1C):c.5741T>A (p.Ile1914Asn)
|
|
|
NM_000719.7(CACNA1C):c.5741T>G (p.Ile1914Ser)
|
rs1603462676
|
|
NM_000719.7(CACNA1C):c.5751G>A (p.Lys1917=)
|
|
|
NM_000719.7(CACNA1C):c.5757C>T (p.Val1919=)
|
rs2153836239
|
|
NM_000719.7(CACNA1C):c.575G>A (p.Arg192His)
|
|
|
NM_000719.7(CACNA1C):c.5769T>C (p.His1923=)
|
|
|
NM_000719.7(CACNA1C):c.5771T>C (p.Leu1924Pro)
|
rs2097477596
|
|
NM_000719.7(CACNA1C):c.5779C>A (p.His1927Asn)
|
rs750568562
|
|
NM_000719.7(CACNA1C):c.5779C>G (p.His1927Asp)
|
rs750568562
|
|
NM_000719.7(CACNA1C):c.5784+10A>T
|
|
|
NM_000719.7(CACNA1C):c.5784+4G>T
|
rs2097478141
|
|
NM_000719.7(CACNA1C):c.5784+8A>C
|
rs1603462720
|
|
NM_000719.7(CACNA1C):c.5785-10G>A
|
rs762376206
|
|
NM_000719.7(CACNA1C):c.5785-12G>A
|
|
|
NM_000719.7(CACNA1C):c.5785-19A>G
|
rs1603466626
|
|
NM_000719.7(CACNA1C):c.5785-20C>T
|
|
|
NM_000719.7(CACNA1C):c.5785-8G>A
|
rs2153864107
|
|
NM_000719.7(CACNA1C):c.5785-9T>C
|
rs2153864076
|
|
NM_000719.7(CACNA1C):c.5787A>C (p.Ala1929=)
|
rs2153864360
|
|
NM_000719.7(CACNA1C):c.5789T>C (p.Leu1930Ser)
|
|
|
NM_000719.7(CACNA1C):c.5813TCC[1] (p.Leu1939del)
|
rs758451142
|
|
NM_000719.7(CACNA1C):c.5815C>G (p.Leu1939Val)
|
|
|
NM_000719.7(CACNA1C):c.5844C>T (p.Phe1948=)
|
|
|
NM_000719.7(CACNA1C):c.5851C>G (p.Pro1951Ala)
|
|
|
NM_000719.7(CACNA1C):c.5852C>G (p.Pro1951Arg)
|
rs762896810
|
|
NM_000719.7(CACNA1C):c.5858C>T (p.Ala1953Val)
|
rs759733868
|
|
NM_000719.7(CACNA1C):c.585G>A (p.Trp195Ter)
|
|
|
NM_000719.7(CACNA1C):c.5862C>G (p.Thr1954=)
|
rs945227847
|
|
NM_000719.7(CACNA1C):c.5862C>T (p.Thr1954=)
|
rs945227847
|
|
NM_000719.7(CACNA1C):c.5862_5873del (p.Pro1956_Pro1959del)
|
rs781559449
|
|
NM_000719.7(CACNA1C):c.5867C>A (p.Pro1956Gln)
|
|
|
NM_000719.7(CACNA1C):c.5869G>C (p.Ala1957Pro)
|
rs1603466869
|
|
NM_000719.7(CACNA1C):c.5872del (p.Thr1958fs)
|
|
|
NM_000719.7(CACNA1C):c.5875C>T (p.Pro1959Ser)
|
rs755941724
|
|
NM_000719.7(CACNA1C):c.5884C>A (p.Arg1962=)
|
|
|
NM_000719.7(CACNA1C):c.5889C>T (p.Gly1963=)
|
rs2153865176
|
|
NM_000719.7(CACNA1C):c.5890T>A (p.Trp1964Arg)
|
|
|
NM_000719.7(CACNA1C):c.5893C>T (p.Pro1965Ser)
|
rs745417641
|
|
NM_000719.7(CACNA1C):c.5899C>G (p.Gln1967Glu)
|
|
|
NM_000719.7(CACNA1C):c.5903C>A (p.Pro1968His)
|
rs2153865329
|
|
NM_000719.7(CACNA1C):c.5909C>T (p.Pro1970Leu)
|
|
|
NM_000719.7(CACNA1C):c.5914C>T (p.Leu1972=)
|
|
|
NM_000719.7(CACNA1C):c.5917C>A (p.Arg1973=)
|
rs774402582
|
|
NM_000719.7(CACNA1C):c.5917C>G (p.Arg1973Gly)
|
rs774402582
|
|
NM_000719.7(CACNA1C):c.5917C>T (p.Arg1973Trp)
|
rs774402582
|
|
NM_000719.7(CACNA1C):c.5924A>C (p.Glu1975Ala)
|
rs1556308664
|
|
NM_000719.7(CACNA1C):c.5927G>A (p.Gly1976Glu)
|
rs2097648681
|
|
NM_000719.7(CACNA1C):c.5928G>C (p.Gly1976=)
|
rs763979736
|
|
NM_000719.7(CACNA1C):c.5929G>C (p.Val1977Leu)
|
rs786205741
|
|
NM_000719.7(CACNA1C):c.592C>T (p.Leu198=)
|
|
|
NM_000719.7(CACNA1C):c.5933A>G (p.Glu1978Gly)
|
rs2097648970
|
|
NM_000719.7(CACNA1C):c.5938A>G (p.Ser1980Gly)
|
|
|
NM_000719.7(CACNA1C):c.5947C>G (p.Leu1983Val)
|
|
|
NM_000719.7(CACNA1C):c.5949C>T (p.Leu1983=)
|
|
|
NM_000719.7(CACNA1C):c.5976C>G (p.Cys1992Trp)
|
|
|
NM_000719.7(CACNA1C):c.5977G>A (p.Gly1993Ser)
|
|
|
NM_000719.7(CACNA1C):c.5978_5992del (p.Gly1993_Thr1998delinsAla)
|
rs2153866305
|
|
NM_000719.7(CACNA1C):c.5979C>T (p.Gly1993=)
|
|
|
NM_000719.7(CACNA1C):c.5989G>T (p.Glu1997Ter)
|
rs1556309883
|
|
NM_000719.7(CACNA1C):c.5991G>A (p.Glu1997=)
|
|
|
NM_000719.7(CACNA1C):c.5992A>G (p.Thr1998Ala)
|
rs1338604193
|
|
NM_000719.7(CACNA1C):c.5994C>G (p.Thr1998=)
|
rs1296936169
|
|
NM_000719.7(CACNA1C):c.5997C>T (p.Thr1999=)
|
rs1291561787
|
|
NM_000719.7(CACNA1C):c.5998_6006del (p.Pro2000_Gly2002del)
|
|
|
NM_000719.7(CACNA1C):c.59A>G (p.Tyr20Cys)
|
|
|
NM_000719.7(CACNA1C):c.6009G>A (p.Gly2003=)
|
rs1211444440
|
|
NM_000719.7(CACNA1C):c.6012C>T (p.Gly2004=)
|
|
|
NM_000719.7(CACNA1C):c.6013A>G (p.Ser2005Gly)
|
rs2153866835
|
|
NM_000719.7(CACNA1C):c.6018C>A (p.Ser2006Arg)
|
rs368817423
|
|
NM_000719.7(CACNA1C):c.6019GCC[3] (p.Ala2008_Arg2009insAla)
|
|
|
NM_000719.7(CACNA1C):c.6022G>C (p.Ala2008Pro)
|
|
|
NM_000719.7(CACNA1C):c.6025C>A (p.Arg2009=)
|
|
|
NM_000719.7(CACNA1C):c.6025C>T (p.Arg2009Trp)
|
rs1358638533
|
|
NM_000719.7(CACNA1C):c.6029G>T (p.Arg2010Ile)
|
|
|
NM_000719.7(CACNA1C):c.6031G>A (p.Val2011Ile)
|
rs193922615
|
|
NM_000719.7(CACNA1C):c.6034C>A (p.Arg2012=)
|
rs553500083
|
|
NM_000719.7(CACNA1C):c.6035G>A (p.Arg2012Gln)
|
rs772606843
|
|
NM_000719.7(CACNA1C):c.6039C>G (p.Pro2013=)
|
|
|
NM_000719.7(CACNA1C):c.603A>C (p.Ile201=)
|
rs2154562882
|
|
NM_000719.7(CACNA1C):c.6040G>T (p.Val2014Phe)
|
rs199473660
|
|
NM_000719.7(CACNA1C):c.6041T>C (p.Val2014Ala)
|
|
|
NM_000719.7(CACNA1C):c.6042C>T (p.Val2014=)
|
|
|
NM_000719.7(CACNA1C):c.6049A>C (p.Met2017Leu)
|
|
|
NM_000719.7(CACNA1C):c.6057C>T (p.Pro2019=)
|
rs1556311718
|
|
NM_000719.7(CACNA1C):c.6068G>A (p.Gly2023Glu)
|
rs377312264
|
|
NM_000719.7(CACNA1C):c.6072C>A (p.Ala2024=)
|
|
|
NM_000719.7(CACNA1C):c.6081G>A (p.Arg2027=)
|
|
|
NM_000719.7(CACNA1C):c.6084G>T (p.Gln2028His)
|
rs767141738
|
|
NM_000719.7(CACNA1C):c.6087C>G (p.Phe2029Leu)
|
rs779215492
|
|
NM_000719.7(CACNA1C):c.6087C>T (p.Phe2029=)
|
rs779215492
|
|
NM_000719.7(CACNA1C):c.60T>C (p.Tyr20=)
|
rs781275687
|
|
NM_000719.7(CACNA1C):c.6100A>T (p.Ser2034Cys)
|
rs1454941343
|
|
NM_000719.7(CACNA1C):c.6102C>A (p.Ser2034Arg)
|
rs2153867804
|
|
NM_000719.7(CACNA1C):c.6104G>A (p.Ser2035Asn)
|
rs2097653623
|
|
NM_000719.7(CACNA1C):c.6105C>T (p.Ser2035=)
|
rs2153867848
|
|
NM_000719.7(CACNA1C):c.6114A>C (p.Glu2038Asp)
|
|
|
NM_000719.7(CACNA1C):c.6117+13C>T
|
|
|
NM_000719.7(CACNA1C):c.6117+15G>A
|
rs1434693338
|
|
NM_000719.7(CACNA1C):c.6117+3A>G
|
|
|
NM_000719.7(CACNA1C):c.6117+5G>C
|
rs1603467251
|
|
NM_000719.7(CACNA1C):c.6117G>A (p.Ala2039=)
|
|
|
NM_000719.7(CACNA1C):c.6118-104_6118-10delinsC
|
|
|
NM_000719.7(CACNA1C):c.6118-10G>T
|
rs1307865315
|
|
NM_000719.7(CACNA1C):c.6118-11C>G
|
|
|
NM_000719.7(CACNA1C):c.6118-11C>T
|
rs551289807
|
|
NM_000719.7(CACNA1C):c.6118-14C>T
|
rs2153890795
|
|
NM_000719.7(CACNA1C):c.6118-15_6118-11dup
|
|
|
NM_000719.7(CACNA1C):c.6118-9C>A
|
rs1205417714
|
|
NM_000719.7(CACNA1C):c.6118G>A (p.Val2040Ile)
|
|
|
NM_000719.7(CACNA1C):c.612T>G (p.Val204=)
|
|
|
NM_000719.7(CACNA1C):c.6140G>A (p.Gly2047Glu)
|
rs1166663389
|
|
NM_000719.7(CACNA1C):c.6142C>G (p.Gln2048Glu)
|
|
|
NM_000719.7(CACNA1C):c.6154G>C (p.Asp2052His)
|
|
|
NM_000719.7(CACNA1C):c.6156T>G (p.Asp2052Glu)
|
|
|
NM_000719.7(CACNA1C):c.6158C>T (p.Pro2053Leu)
|
rs2097778560
|
|
NM_000719.7(CACNA1C):c.615G>A (p.Val205=)
|
rs747320984
|
|
NM_000719.7(CACNA1C):c.6161A>C (p.Lys2054Thr)
|
|
|
NM_000719.7(CACNA1C):c.6168C>T (p.Ile2056=)
|
|
|
NM_000719.7(CACNA1C):c.6169G>A (p.Glu2057Lys)
|
rs755553231
|
|
NM_000719.7(CACNA1C):c.617+15C>T
|
|
|
NM_000719.7(CACNA1C):c.617+15_617+18del
|
|
|
NM_000719.7(CACNA1C):c.617+194G>A
|
rs4765933
|
|
NM_000719.7(CACNA1C):c.617+4A>C
|
|
|
NM_000719.7(CACNA1C):c.6172G>C (p.Val2058Leu)
|
|
|
NM_000719.7(CACNA1C):c.618-12C>A
|
|
|
NM_000719.7(CACNA1C):c.618-6T>G
|
rs2154564923
|
|
NM_000719.7(CACNA1C):c.618-7C>A
|
rs2154564922
|
|
NM_000719.7(CACNA1C):c.6185A>T (p.Glu2062Val)
|
rs2097779002
|
|
NM_000719.7(CACNA1C):c.6187C>T (p.Leu2063=)
|
rs1603473212
|
|
NM_000719.7(CACNA1C):c.6200G>A (p.Cys2067Tyr)
|
|
|
NM_000719.7(CACNA1C):c.6201C>T (p.Cys2067=)
|
|
|
NM_000719.7(CACNA1C):c.6202G>A (p.Asp2068Asn)
|
|
|
NM_000719.7(CACNA1C):c.6204C>A (p.Asp2068Glu)
|
|
|
NM_000719.7(CACNA1C):c.6204C>T (p.Asp2068=)
|
|
|
NM_000719.7(CACNA1C):c.6209C>T (p.Thr2070Ile)
|
rs1292503025
|
|
NM_000719.7(CACNA1C):c.6210del (p.Thr2070_Ile2071insTer)
|
|
|
NM_000719.7(CACNA1C):c.6213A>G (p.Ile2071Met)
|
|
|
NM_000719.7(CACNA1C):c.6219G>C (p.Glu2073Asp)
|
|
|
NM_000719.7(CACNA1C):c.621T>C (p.Leu207=)
|
rs2099443384
|
|
NM_000719.7(CACNA1C):c.6228C>A (p.Ser2076Arg)
|
|
|
NM_000719.7(CACNA1C):c.6231G>A (p.Ala2077=)
|
rs772093926
|
|
NM_000719.7(CACNA1C):c.6236A>G (p.Asp2079Gly)
|
|
|
NM_000719.7(CACNA1C):c.6243C>G (p.Ile2081Met)
|
|
|
NM_000719.7(CACNA1C):c.6244C>T (p.Leu2082Phe)
|
|
|
NM_000719.7(CACNA1C):c.6249C>T (p.Ser2083=)
|
|
|
NM_000719.7(CACNA1C):c.624T>C (p.Phe208=)
|
|
|
NM_000719.7(CACNA1C):c.6250G>A (p.Gly2084Arg)
|
rs1060503444
|
|
NM_000719.7(CACNA1C):c.6251G>A (p.Gly2084Glu)
|
rs1381771539
|
|
NM_000719.7(CACNA1C):c.6252G>A (p.Gly2084=)
|
|
|
NM_000719.7(CACNA1C):c.6255C>T (p.Gly2085=)
|
|
|
NM_000719.7(CACNA1C):c.6256G>A (p.Ala2086Thr)
|
rs763324710
|
|
NM_000719.7(CACNA1C):c.6257C>G (p.Ala2086Gly)
|
|
|
NM_000719.7(CACNA1C):c.6258C>A (p.Ala2086=)
|
|
|
NM_000719.7(CACNA1C):c.6260_6280del (p.Pro2087_Ala2093del)
|
rs1556333500
|
|
NM_000719.7(CACNA1C):c.6260dup (p.Gln2088fs)
|
|
|
NM_000719.7(CACNA1C):c.6262C>G (p.Gln2088Glu)
|
|
|
NM_000719.7(CACNA1C):c.6267C>T (p.Ser2089=)
|
rs766626036
|
|
NM_000719.7(CACNA1C):c.6269C>A (p.Pro2090His)
|
|
|
NM_000719.7(CACNA1C):c.6270C>A (p.Pro2090=)
|
rs1060504921
|
|
NM_000719.7(CACNA1C):c.6275G>A (p.Gly2092Asp)
|
rs755430543
|
|
NM_000719.7(CACNA1C):c.6275G>C (p.Gly2092Ala)
|
rs755430543
|
|
NM_000719.7(CACNA1C):c.6276C>A (p.Gly2092=)
|
rs1556333950
|
|
NM_000719.7(CACNA1C):c.6278C>G (p.Ala2093Gly)
|
rs2097781354
|
|
NM_000719.7(CACNA1C):c.6279C>G (p.Ala2093=)
|
|
|
NM_000719.7(CACNA1C):c.6280C>T (p.Leu2094Phe)
|
|
|
NM_000719.7(CACNA1C):c.6280del (p.Leu2094fs)
|
|
|
NM_000719.7(CACNA1C):c.6282C>T (p.Leu2094=)
|
|
|
NM_000719.7(CACNA1C):c.6294G>T (p.Val2098=)
|
|
|
NM_000719.7(CACNA1C):c.62G>C (p.Gly21Ala)
|
rs868443106
|
|
NM_000719.7(CACNA1C):c.6307G>T (p.Ala2103Ser)
|
rs193922616
|
|
NM_000719.7(CACNA1C):c.6308C>T (p.Ala2103Val)
|
rs1402303798
|
|
NM_000719.7(CACNA1C):c.630A>G (p.Ala210=)
|
|
|
NM_000719.7(CACNA1C):c.6312_6344del (p.Gln2105_Gly2115del)
|
rs2153891914
|
|
NM_000719.7(CACNA1C):c.6315G>A (p.Gln2105=)
|
rs1051555434
|
|
NM_000719.7(CACNA1C):c.6319C>T (p.Arg2107Ter)
|
|
|
NM_000719.7(CACNA1C):c.6320G>T (p.Arg2107Leu)
|
rs552013761
|
|
NM_000719.7(CACNA1C):c.6323C>T (p.Ala2108Val)
|
rs1453140106
|
|
NM_000719.7(CACNA1C):c.6324C>G (p.Ala2108=)
|
rs757538773
|
|
NM_000719.7(CACNA1C):c.6325G>A (p.Gly2109Arg)
|
|
|
NM_000719.7(CACNA1C):c.6326G>A (p.Gly2109Glu)
|
|
|
NM_000719.7(CACNA1C):c.6328G>A (p.Gly2110Ser)
|
|
|
NM_000719.7(CACNA1C):c.6329G>C (p.Gly2110Ala)
|
|
|
NM_000719.7(CACNA1C):c.6329dup (p.Glu2111fs)
|
rs771708175
|
|
NM_000719.7(CACNA1C):c.6332_6333del (p.Glu2111fs)
|
rs2153892110
|
|
NM_000719.7(CACNA1C):c.6334G>C (p.Glu2112Gln)
|
rs1279028766
|
|
NM_000719.7(CACNA1C):c.6336G>C (p.Glu2112Asp)
|
rs1188477095
|
|
NM_000719.7(CACNA1C):c.6337G>A (p.Asp2113Asn)
|
|
|
NM_000719.7(CACNA1C):c.6338A>T (p.Asp2113Val)
|
|
|
NM_000719.7(CACNA1C):c.6341C>A (p.Ala2114Glu)
|
|
|
NM_000719.7(CACNA1C):c.6344G>A (p.Gly2115Asp)
|
rs199694744
|
|
NM_000719.7(CACNA1C):c.6345C>T (p.Gly2115=)
|
|
|
NM_000719.7(CACNA1C):c.6351G>A (p.Val2117=)
|
rs761353690
|
|
NM_000719.7(CACNA1C):c.6352C>T (p.Arg2118Cys)
|
|
|
NM_000719.7(CACNA1C):c.6353G>A (p.Arg2118His)
|
|
|
NM_000719.7(CACNA1C):c.6354C>A (p.Arg2118=)
|
rs774577016
|
|
NM_000719.7(CACNA1C):c.6355G>A (p.Ala2119Thr)
|
rs1470889027
|
|
NM_000719.7(CACNA1C):c.6356C>A (p.Ala2119Glu)
|
rs1174127261
|
|
NM_000719.7(CACNA1C):c.6359G>C (p.Arg2120Pro)
|
|
|
NM_000719.7(CACNA1C):c.6361G>A (p.Gly2121Ser)
|
rs2097783379
|
|
NM_000719.7(CACNA1C):c.6364_6372del (p.Arg2122_Ser2124del)
|
rs760320817
|
|
NM_000719.7(CACNA1C):c.6369G>T (p.Pro2123=)
|
|
|
NM_000719.7(CACNA1C):c.6371G>A (p.Ser2124Asn)
|
rs886049210
|
|
NM_000719.7(CACNA1C):c.6373G>A (p.Glu2125Lys)
|
|
|
NM_000719.7(CACNA1C):c.6373G>C (p.Glu2125Gln)
|
|
|
NM_000719.7(CACNA1C):c.6382C>A (p.Leu2128Ile)
|
rs2097784040
|
|
NM_000719.7(CACNA1C):c.6382C>T (p.Leu2128Phe)
|
|
|
NM_000719.7(CACNA1C):c.6384C>G (p.Leu2128=)
|
|
|
NM_000719.7(CACNA1C):c.6391A>G (p.Ser2131Gly)
|
|
|
NM_000719.7(CACNA1C):c.6394A>C (p.Arg2132=)
|
|
|
NM_000719.7(CACNA1C):c.6394A>G (p.Arg2132Gly)
|
rs766262489
|
|
NM_000719.7(CACNA1C):c.6397G>T (p.Val2133Phe)
|
rs2097784466
|
|
NM_000719.7(CACNA1C):c.6399C>G (p.Val2133=)
|
rs2153892722
|
|
NM_000719.7(CACNA1C):c.6403G>A (p.Val2135Ile)
|
rs758199539
|
|
NM_000719.7(CACNA1C):c.6403G>T (p.Val2135Phe)
|
rs758199539
|
|
NM_000719.7(CACNA1C):c.6405C>T (p.Val2135=)
|
rs2153892738
|
|
NM_000719.7(CACNA1C):c.6407G>A (p.Ser2136Asn)
|
rs1556337119
|
|
NM_000719.7(CACNA1C):c.645A>C (p.Ala215=)
|
rs2154564926
|
|
NM_000719.7(CACNA1C):c.645A>G (p.Ala215=)
|
|
|
NM_000719.7(CACNA1C):c.65G>A (p.Ser22Asn)
|
|
|
NM_000719.7(CACNA1C):c.661G>A (p.Ala221Thr)
|
|
|
NM_000719.7(CACNA1C):c.664A>G (p.Asn222Asp)
|
rs373085638
|
|
NM_000719.7(CACNA1C):c.667G>A (p.Ala223Thr)
|
|
|
NM_000719.7(CACNA1C):c.669T>C (p.Ala223=)
|
rs1596886599
|
|
NM_000719.7(CACNA1C):c.672C>A (p.Leu224=)
|
rs868024886
|
|
NM_000719.7(CACNA1C):c.673G>A (p.Gly225Arg)
|
|
|
NM_000719.7(CACNA1C):c.688G>A (p.Gly230Arg)
|
|
|
NM_000719.7(CACNA1C):c.699del (p.Lys234fs)
|
rs2099444197
|
|
NM_000719.7(CACNA1C):c.69A>C (p.Pro23=)
|
rs2154136816
|
|
NM_000719.7(CACNA1C):c.69A>G (p.Pro23=)
|
rs2154136816
|
|
NM_000719.7(CACNA1C):c.714C>A (p.Ala238=)
|
|
|
NM_000719.7(CACNA1C):c.726G>T (p.Leu242=)
|
|
|
NM_000719.7(CACNA1C):c.728G>T (p.Arg243Leu)
|
|
|
NM_000719.7(CACNA1C):c.732C>A (p.Pro244=)
|
|
|
NM_000719.7(CACNA1C):c.741G>C (p.Leu247=)
|
rs2154564935
|
|
NM_000719.7(CACNA1C):c.747C>T (p.Ser249=)
|
rs761910114
|
|
NM_000719.7(CACNA1C):c.756A>G (p.Pro252=)
|
rs2099444592
|
|
NM_000719.7(CACNA1C):c.757+11C>T
|
rs762620118
|
|
NM_000719.7(CACNA1C):c.757+14G>A
|
rs753042094
|
|
NM_000719.7(CACNA1C):c.757+17C>A
|
|
|
NM_000719.7(CACNA1C):c.758-16G>A
|
|
|
NM_000719.7(CACNA1C):c.758-259A>C
|
rs887001
|
|
NM_000719.7(CACNA1C):c.758-4G>A
|
|
|
NM_000719.7(CACNA1C):c.758-5C>T
|
|
|
NM_000719.7(CACNA1C):c.758-6C>T
|
|
|
NM_000719.7(CACNA1C):c.758-7C>G
|
|
|
NM_000719.7(CACNA1C):c.758-8C>T
|
rs1597759154
|
|
NM_000719.7(CACNA1C):c.777T>C (p.Asn259=)
|
rs1433280046
|
|
NM_000719.7(CACNA1C):c.77C>T (p.Ala26Val)
|
rs1555192348
|
|
NM_000719.7(CACNA1C):c.786C>T (p.Ile262=)
|
|
|
NM_000719.7(CACNA1C):c.798C>A (p.Val266=)
|
|
|
NM_000719.7(CACNA1C):c.817C>T (p.Leu273=)
|
|
|
NM_000719.7(CACNA1C):c.835A>G (p.Ile279Val)
|
rs1447529441
|
|
NM_000719.7(CACNA1C):c.847G>T (p.Ala283Ser)
|
|
|
NM_000719.7(CACNA1C):c.852C>T (p.Ile284=)
|
rs2154570577
|
|
NM_000719.7(CACNA1C):c.857G>C (p.Gly286Ala)
|
|
|
NM_000719.7(CACNA1C):c.876G>A (p.Gly292=)
|
rs2154570585
|
|
NM_000719.7(CACNA1C):c.885C>T (p.His295=)
|
|
|
NM_000719.7(CACNA1C):c.88A>G (p.Met30Val)
|
rs1367916633
|
|
NM_000719.7(CACNA1C):c.910A>G (p.Ile304Val)
|
rs1597763675
|
|
NM_000719.7(CACNA1C):c.916+10G>A
|
|
|
NM_000719.7(CACNA1C):c.916+8G>A
|
rs2154570594
|
|
NM_000719.7(CACNA1C):c.916+9G>A
|
|
|
NM_000719.7(CACNA1C):c.917-15T>C
|
|
|
NM_000719.7(CACNA1C):c.917-16C>T
|
rs2154571822
|
|
NM_000719.7(CACNA1C):c.917-1G>A
|
|
|
NM_000719.7(CACNA1C):c.917-8C>T
|
|
|
NM_000719.7(CACNA1C):c.919G>A (p.Val307Ile)
|
|
|
NM_000719.7(CACNA1C):c.930A>G (p.Glu310=)
|
|
|
NM_000719.7(CACNA1C):c.950C>A (p.Ala317Glu)
|
|
|
NM_000719.7(CACNA1C):c.951G>A (p.Ala317=)
|
rs373875149
|
|
NM_000719.7(CACNA1C):c.95C>G (p.Ala32Gly)
|
|
|
NM_000719.7(CACNA1C):c.95C>T (p.Ala32Val)
|
|
|
NM_000719.7(CACNA1C):c.962G>A (p.Gly321Asp)
|
|
|
NM_000719.7(CACNA1C):c.971G>A (p.Arg324Gln)
|
rs2099740070
|
|
NM_000719.7(CACNA1C):c.973C>A (p.Gln325Lys)
|
rs1597984777
|
|
NM_000719.7(CACNA1C):c.974A>G (p.Gln325Arg)
|
|
|
NM_000719.7(CACNA1C):c.975del (p.Gln325fs)
|
|
|
NM_000719.7(CACNA1C):c.985G>A (p.Gly329Ser)
|
rs786205744
|
|
NM_000719.7(CACNA1C):c.98A>C (p.Asn33Thr)
|
|
|
NM_000719.7(CACNA1C):c.991G>A (p.Val331Met)
|
rs2154571838
|
|
NM_000890.5(KCNJ5):c.1026C>T (p.Gly342=)
|
|
|
NM_000890.5(KCNJ5):c.1030T>C (p.Tyr344His)
|
|
|
NM_000890.5(KCNJ5):c.1036G>A (p.Val346Met)
|
rs2136003912
|
|
NM_000890.5(KCNJ5):c.1071C>T (p.Thr357=)
|
rs1159900612
|
|
NM_000890.5(KCNJ5):c.1074C>A (p.Asn358Lys)
|
rs2136003967
|
|
NM_000890.5(KCNJ5):c.1098G>A (p.Glu366=)
|
|
|
NM_000890.5(KCNJ5):c.112G>A (p.Asp38Asn)
|
rs2135998525
|
|
NM_000890.5(KCNJ5):c.1133A>G (p.Gln378Arg)
|
|
|
NM_000890.5(KCNJ5):c.1148C>T (p.Pro383Leu)
|
|
|
NM_000890.5(KCNJ5):c.1151C>A (p.Pro384Gln)
|
rs148307402
|
|
NM_000890.5(KCNJ5):c.1151del (p.Pro384fs)
|
|
|
NM_000890.5(KCNJ5):c.1151dup (p.Leu385fs)
|
|
|
NM_000890.5(KCNJ5):c.1153dup (p.Leu385fs)
|
rs2136004085
|
|
NM_000890.5(KCNJ5):c.1161G>C (p.Gly387=)
|
rs2136004112
|
|
NM_000890.5(KCNJ5):c.1162G>A (p.Gly388Ser)
|
|
|
NM_000890.5(KCNJ5):c.116G>A (p.Arg39His)
|
|
|
NM_000890.5(KCNJ5):c.1180C>A (p.Leu394Met)
|
|
|
NM_000890.5(KCNJ5):c.1185T>G (p.Asp395Glu)
|
|
|
NM_000890.5(KCNJ5):c.1194T>C (p.Ala398=)
|
|
|
NM_000890.5(KCNJ5):c.1198C>A (p.Gln400Lys)
|
|
|
NM_000890.5(KCNJ5):c.1200G>A (p.Gln400=)
|
|
|
NM_000890.5(KCNJ5):c.1210G>C (p.Asp404His)
|
rs1265998559
|
|
NM_000890.5(KCNJ5):c.1227G>C (p.Leu409=)
|
|
|
NM_000890.5(KCNJ5):c.1231G>A (p.Gly411Arg)
|
|
|
NM_000890.5(KCNJ5):c.1237A>C (p.Arg413=)
|
|
|
NM_000890.5(KCNJ5):c.123C>T (p.Arg41=)
|
|
|
NM_000890.5(KCNJ5):c.1245C>G (p.Ala415=)
|
rs919890581
|
|
NM_000890.5(KCNJ5):c.1248G>A (p.Arg416=)
|
|
|
NM_000890.5(KCNJ5):c.1253C>T (p.Ser418Leu)
|
|
|
NM_000890.5(KCNJ5):c.132C>T (p.Ala44=)
|
rs757867512
|
|
NM_000890.5(KCNJ5):c.133G>C (p.Glu45Gln)
|
rs372447456
|
|
NM_000890.5(KCNJ5):c.141G>C (p.Lys47Asn)
|
rs1298630101
|
|
NM_000890.5(KCNJ5):c.144G>A (p.Lys48=)
|
|
|
NM_000890.5(KCNJ5):c.149G>C (p.Arg50Pro)
|
rs748152068
|
|
NM_000890.5(KCNJ5):c.171_172inv (p.Gly58Ser)
|
|
|
NM_000890.5(KCNJ5):c.184G>A (p.Val62Met)
|
rs1389808024
|
|
NM_000890.5(KCNJ5):c.193G>A (p.Gly65Ser)
|
|
|
NM_000890.5(KCNJ5):c.204G>A (p.Gln68=)
|
rs1735429450
|
|
NM_000890.5(KCNJ5):c.246G>A (p.Val82=)
|
|
|
NM_000890.5(KCNJ5):c.276C>G (p.Val92=)
|
rs1944499040
|
|
NM_000890.5(KCNJ5):c.297C>T (p.Val99=)
|
|
|
NM_000890.5(KCNJ5):c.299C>A (p.Thr100Asn)
|
|
|
NM_000890.5(KCNJ5):c.313G>A (p.Gly105Ser)
|
|
|
NM_000890.5(KCNJ5):c.314G>C (p.Gly105Ala)
|
rs776932193
|
|
NM_000890.5(KCNJ5):c.316T>C (p.Phe106Leu)
|
rs1944499851
|
|
NM_000890.5(KCNJ5):c.328C>T (p.Leu110Phe)
|
|
|
NM_000890.5(KCNJ5):c.330C>T (p.Leu110=)
|
rs762272154
|
|
NM_000890.5(KCNJ5):c.343C>T (p.Arg115Trp)
|
|
|
NM_000890.5(KCNJ5):c.352C>A (p.Leu118Met)
|
|
|
NM_000890.5(KCNJ5):c.361G>A (p.Val121Ile)
|
|
|
NM_000890.5(KCNJ5):c.397C>T (p.Leu133Phe)
|
rs1555144961
|
|
NM_000890.5(KCNJ5):c.409G>A (p.Val137Met)
|
|
|
NM_000890.5(KCNJ5):c.411G>A (p.Val137=)
|
|
|
NM_000890.5(KCNJ5):c.41A>T (p.Glu14Val)
|
rs1555144849
|
|
NM_000890.5(KCNJ5):c.439G>C (p.Glu147Gln)
|
rs148355179
|
|
NM_000890.5(KCNJ5):c.445A>G (p.Thr149Ala)
|
|
|
NM_000890.5(KCNJ5):c.449T>G (p.Ile150Ser)
|
|
|
NM_000890.5(KCNJ5):c.451G>A (p.Gly151Arg)
|
rs386352319
|
|
NM_000890.5(KCNJ5):c.452G>A (p.Gly151Glu)
|
rs587777437
|
|
NM_000890.5(KCNJ5):c.466G>A (p.Val156Ile)
|
|
|
NM_000890.5(KCNJ5):c.50T>A (p.Val17Asp)
|
|
|
NM_000890.5(KCNJ5):c.519C>G (p.Ile173Met)
|
|
|
NM_000890.5(KCNJ5):c.520C>A (p.Leu174Met)
|
rs1944506012
|
|
NM_000890.5(KCNJ5):c.546G>T (p.Met182Ile)
|
rs774980501
|
|
NM_000890.5(KCNJ5):c.554G>C (p.Cys185Ser)
|
|
|
NM_000890.5(KCNJ5):c.592G>A (p.Glu198Lys)
|
|
|
NM_000890.5(KCNJ5):c.597C>T (p.Thr199=)
|
rs2135999272
|
|
NM_000890.5(KCNJ5):c.60_61del (p.Trp20_Asp21delinsTer)
|
rs1177055098
|
|
NM_000890.5(KCNJ5):c.61G>C (p.Asp21His)
|
|
|
NM_000890.5(KCNJ5):c.622A>G (p.Ile208Val)
|
rs1555145038
|
|
NM_000890.5(KCNJ5):c.628A>T (p.Met210Leu)
|
|
|
NM_000890.5(KCNJ5):c.634G>A (p.Asp212Asn)
|
rs786205823
|
|
NM_000890.5(KCNJ5):c.636C>T (p.Asp212=)
|
|
|
NM_000890.5(KCNJ5):c.637G>A (p.Glu213Lys)
|
|
|
NM_000890.5(KCNJ5):c.659G>A (p.Arg220Gln)
|
|
|
NM_000890.5(KCNJ5):c.663G>A (p.Val221=)
|
rs1944509320
|
|
NM_000890.5(KCNJ5):c.666C>A (p.Gly222=)
|
|
|
NM_000890.5(KCNJ5):c.666C>T (p.Gly222=)
|
rs200933370
|
|
NM_000890.5(KCNJ5):c.667G>A (p.Asp223Asn)
|
rs761349623
|
|
NM_000890.5(KCNJ5):c.670C>T (p.Leu224Phe)
|
rs2135999392
|
|
NM_000890.5(KCNJ5):c.673C>T (p.Arg225Cys)
|
|
|
NM_000890.5(KCNJ5):c.687C>G (p.Ile229Met)
|
rs149327599
|
|
NM_000890.5(KCNJ5):c.691G>A (p.Glu231Lys)
|
|
|
NM_000890.5(KCNJ5):c.701T>C (p.Ile234Thr)
|
|
|
NM_000890.5(KCNJ5):c.737_738del (p.Glu246fs)
|
|
|
NM_000890.5(KCNJ5):c.73A>T (p.Ile25Phe)
|
rs2135998470
|
|
NM_000890.5(KCNJ5):c.741G>A (p.Gly247=)
|
|
|
NM_000890.5(KCNJ5):c.741G>C (p.Gly247=)
|
|
|
NM_000890.5(KCNJ5):c.751C>T (p.Pro251Ser)
|
|
|
NM_000890.5(KCNJ5):c.774C>T (p.Asn258=)
|
|
|
NM_000890.5(KCNJ5):c.789G>A (p.Thr263=)
|
|
|
NM_000890.5(KCNJ5):c.796G>A (p.Asp266Asn)
|
|
|
NM_000890.5(KCNJ5):c.810T>A (p.Leu270=)
|
|
|
NM_000890.5(KCNJ5):c.810T>C (p.Leu270=)
|
rs7118824
|
|
NM_000890.5(KCNJ5):c.810_811delinsGA (p.Val271Met)
|
rs1591450867
|
|
NM_000890.5(KCNJ5):c.813G>T (p.Val271=)
|
|
|
NM_000890.5(KCNJ5):c.828C>A (p.Ile276=)
|
|
|
NM_000890.5(KCNJ5):c.829T>G (p.Ser277Ala)
|
|
|
NM_000890.5(KCNJ5):c.830C>T (p.Ser277Phe)
|
|
|
NM_000890.5(KCNJ5):c.834T>A (p.His278Gln)
|
rs7118833
|
|
NM_000890.5(KCNJ5):c.834_835inv (p.Glu279Lys)
|
|
|
NM_000890.5(KCNJ5):c.843_844delinsTG (p.Gln282Glu)
|
rs1060503834
|
|
NM_000890.5(KCNJ5):c.849G>A (p.Lys283=)
|
|
|
NM_000890.5(KCNJ5):c.857T>C (p.Phe286Ser)
|
|
|
NM_000890.5(KCNJ5):c.866T>C (p.Met289Thr)
|
rs936797038
|
|
NM_000890.5(KCNJ5):c.86C>A (p.Ala29Asp)
|
rs863224689
|
|
NM_000890.5(KCNJ5):c.880C>T (p.Leu294=)
|
rs2135999678
|
|
NM_000890.5(KCNJ5):c.89G>A (p.Arg30His)
|
|
|
NM_000890.5(KCNJ5):c.925G>A (p.Val309Met)
|
|
|
NM_000890.5(KCNJ5):c.937+4del
|
|
|
NM_000890.5(KCNJ5):c.937G>A (p.Gly313Ser)
|
|
|
NM_000890.5(KCNJ5):c.938-11_938-10delinsTA
|
rs2136003778
|
|
NM_000890.5(KCNJ5):c.938-13T>G
|
rs2136003773
|
|
NM_000890.5(KCNJ5):c.938-20T>C
|
|
|
NM_000890.5(KCNJ5):c.966C>T (p.Tyr322=)
|
|
|
NM_000890.5(KCNJ5):c.968T>C (p.Met323Thr)
|
rs886048011
|
|
NM_000890.5(KCNJ5):c.96T>A (p.Tyr32Ter)
|
|
|
NM_000890.5(KCNJ5):c.96T>C (p.Tyr32=)
|
rs767651199
|
|
NM_000890.5(KCNJ5):c.9C>T (p.Gly3=)
|
|
|
NM_000891.3(KCNJ2):c.-217+1029_422del
|
|
|
NM_000891.3(KCNJ2):c.1005C>T (p.His335=)
|
rs2144377784
|
|
NM_000891.3(KCNJ2):c.1007A>G (p.Tyr336Cys)
|
|
|
NM_000891.3(KCNJ2):c.1010A>G (p.Tyr337Cys)
|
|
|
NM_000891.3(KCNJ2):c.1015G>C (p.Val339Leu)
|
|
|
NM_000891.3(KCNJ2):c.101A>G (p.Lys34Arg)
|
rs772815957
|
|
NM_000891.3(KCNJ2):c.102G>A (p.Lys34=)
|
rs1476737505
|
|
NM_000891.3(KCNJ2):c.1043A>G (p.Tyr348Cys)
|
rs2144377812
|
|
NM_000891.3(KCNJ2):c.1053C>T (p.Pro351=)
|
rs2144377840
|
|
NM_000891.3(KCNJ2):c.1056C>T (p.Asn352=)
|
rs1473243559
|
|
NM_000891.3(KCNJ2):c.1063C>T (p.Leu355Phe)
|
rs1411366891
|
|
NM_000891.3(KCNJ2):c.1067G>T (p.Cys356Phe)
|
rs368406938
|
|
NM_000891.3(KCNJ2):c.106A>G (p.Lys36Glu)
|
|
|
NM_000891.3(KCNJ2):c.1085C>A (p.Ala362Glu)
|
|
|
NM_000891.3(KCNJ2):c.1086A>G (p.Ala362=)
|
|
|
NM_000891.3(KCNJ2):c.1088A>T (p.Glu363Val)
|
rs2074391294
|
|
NM_000891.3(KCNJ2):c.1091A>G (p.Lys364Arg)
|
rs1060500054
|
|
NM_000891.3(KCNJ2):c.1096T>A (p.Tyr366Asn)
|
rs2144377919
|
|
NM_000891.3(KCNJ2):c.1102del (p.Leu368fs)
|
rs1567823248
|
|
NM_000891.3(KCNJ2):c.1103T>A (p.Leu368His)
|
rs2144377937
|
|
NM_000891.3(KCNJ2):c.1109A>G (p.Asn370Ser)
|
rs2144377959
|
|
NM_000891.3(KCNJ2):c.1112C>A (p.Ala371Glu)
|
rs780233256
|
|
NM_000891.3(KCNJ2):c.1116T>G (p.Asn372Lys)
|
rs2144377969
|
|
NM_000891.3(KCNJ2):c.1148C>G (p.Thr383Arg)
|
|
|
NM_000891.3(KCNJ2):c.1151G>A (p.Ser384Asn)
|
|
|
NM_000891.3(KCNJ2):c.1169G>T (p.Ser390Ile)
|
|
|
NM_000891.3(KCNJ2):c.1179A>G (p.Gly393=)
|
|
|
NM_000891.3(KCNJ2):c.1181T>C (p.Val394Ala)
|
|
|
NM_000891.3(KCNJ2):c.118C>T (p.Arg40Ter)
|
rs786205811
|
|
NM_000891.3(KCNJ2):c.1190G>A (p.Ser397Asn)
|
rs1567823283
|
|
NM_000891.3(KCNJ2):c.1193C>A (p.Thr398Asn)
|
|
|
NM_000891.3(KCNJ2):c.1196G>A (p.Ser399Asn)
|
rs1598211624
|
|
NM_000891.3(KCNJ2):c.1196G>C (p.Ser399Thr)
|
rs1598211624
|
|
NM_000891.3(KCNJ2):c.1198A>G (p.Thr400Ala)
|
|
|
NM_000891.3(KCNJ2):c.119G>C (p.Arg40Pro)
|
rs766143485
|
|
NM_000891.3(KCNJ2):c.119G>T (p.Arg40Leu)
|
|
|
NM_000891.3(KCNJ2):c.1202A>G (p.Asp401Gly)
|
|
|
NM_000891.3(KCNJ2):c.1206G>T (p.Thr402=)
|
rs1279223538
|
|
NM_000891.3(KCNJ2):c.1212del (p.Asp405fs)
|
rs2074392185
|
|
NM_000891.3(KCNJ2):c.1215C>A (p.Asp405Glu)
|
rs863224374
|
|
NM_000891.3(KCNJ2):c.1215C>T (p.Asp405=)
|
rs863224374
|
|
NM_000891.3(KCNJ2):c.1222C>T (p.Leu408Phe)
|
rs753757610
|
|
NM_000891.3(KCNJ2):c.1235C>T (p.Ala412Val)
|
|
|
NM_000891.3(KCNJ2):c.1237A>T (p.Ser413Cys)
|
rs910587867
|
|
NM_000891.3(KCNJ2):c.1238G>T (p.Ser413Ile)
|
rs779960704
|
|
NM_000891.3(KCNJ2):c.1244C>A (p.Pro415His)
|
|
|
NM_000891.3(KCNJ2):c.1248A>G (p.Leu416=)
|
|
|
NM_000891.3(KCNJ2):c.1254C>A (p.Pro418=)
|
|
|
NM_000891.3(KCNJ2):c.1254C>G (p.Pro418=)
|
rs748445140
|
|
NM_000891.3(KCNJ2):c.1260C>G (p.Pro420=)
|
rs1257779655
|
|
NM_000891.3(KCNJ2):c.1264C>T (p.Arg422Trp)
|
rs1478741381
|
|
NM_000891.3(KCNJ2):c.1265G>A (p.Arg422Gln)
|
|
|
NM_000891.3(KCNJ2):c.1265G>T (p.Arg422Leu)
|
rs199473390
|
|
NM_000891.3(KCNJ2):c.126G>A (p.Gln42=)
|
rs2144376459
|
|
NM_000891.3(KCNJ2):c.1284A>G (p.Ter428Trp)
|
|
|
NM_000891.3(KCNJ2):c.131G>A (p.Arg44Lys)
|
rs2144376473
|
|
NM_000891.3(KCNJ2):c.136C>G (p.Arg46Gly)
|
rs2074385043
|
|
NM_000891.3(KCNJ2):c.136C>T (p.Arg46Cys)
|
rs2074385043
|
|
NM_000891.3(KCNJ2):c.13C>G (p.Arg5Gly)
|
|
|
NM_000891.3(KCNJ2):c.13C>T (p.Arg5Ter)
|
rs1042485
|
|
NM_000891.3(KCNJ2):c.142G>A (p.Val48Met)
|
|
|
NM_000891.3(KCNJ2):c.149A>G (p.Lys50Arg)
|
rs2144376499
|
|
NM_000891.3(KCNJ2):c.158A>G (p.His53Arg)
|
rs1598211051
|
|
NM_000891.3(KCNJ2):c.160T>G (p.Cys54Gly)
|
rs2144376507
|
|
NM_000891.3(KCNJ2):c.186T>C (p.Gly62=)
|
rs2144376552
|
|
NM_000891.3(KCNJ2):c.18C>A (p.Thr6=)
|
rs2144376313
|
|
NM_000891.3(KCNJ2):c.191A>G (p.Lys64Arg)
|
rs2144376559
|
|
NM_000891.3(KCNJ2):c.199C>T (p.Arg67Trp)
|
rs104894580
|
|
NM_000891.3(KCNJ2):c.200G>A (p.Arg67Gln)
|
rs199473368
|
|
NM_000891.3(KCNJ2):c.205C>T (p.Leu69Phe)
|
|
|
NM_000891.3(KCNJ2):c.207C>G (p.Leu69=)
|
rs1007358932
|
|
NM_000891.3(KCNJ2):c.207C>T (p.Leu69=)
|
|
|
NM_000891.3(KCNJ2):c.208G>A (p.Ala70Thr)
|
rs375605948
|
|
NM_000891.3(KCNJ2):c.211G>C (p.Asp71His)
|
rs199473369
|
|
NM_000891.3(KCNJ2):c.212A>T (p.Asp71Val)
|
rs104894575
|
|
NM_000891.3(KCNJ2):c.214A>G (p.Ile72Val)
|
|
|
NM_000891.3(KCNJ2):c.224C>A (p.Thr75Lys)
|
|
|
NM_000891.3(KCNJ2):c.224C>G (p.Thr75Arg)
|
rs104894585
|
|
NM_000891.3(KCNJ2):c.224C>T (p.Thr75Met)
|
rs104894585
|
|
NM_000891.3(KCNJ2):c.225G>T (p.Thr75=)
|
|
|
NM_000891.3(KCNJ2):c.226T>G (p.Cys76Gly)
|
rs786205812
|
|
NM_000891.3(KCNJ2):c.232G>A (p.Asp78Asn)
|
|
|
NM_000891.3(KCNJ2):c.232G>C (p.Asp78His)
|
rs199473372
|
|
NM_000891.3(KCNJ2):c.232G>T (p.Asp78Tyr)
|
rs199473372
|
|
NM_000891.3(KCNJ2):c.234C>T (p.Asp78=)
|
|
|
NM_000891.3(KCNJ2):c.238C>T (p.Arg80Cys)
|
rs2074385891
|
|
NM_000891.3(KCNJ2):c.239G>A (p.Arg80His)
|
rs2144376668
|
|
NM_000891.3(KCNJ2):c.244C>A (p.Arg82=)
|
|
|
NM_000891.3(KCNJ2):c.244C>T (p.Arg82Trp)
|
rs199473373
|
|
NM_000891.3(KCNJ2):c.245G>A (p.Arg82Gln)
|
rs199473653
|
|
NM_000891.3(KCNJ2):c.246G>A (p.Arg82=)
|
|
|
NM_000891.3(KCNJ2):c.251T>C (p.Met84Thr)
|
|
|
NM_000891.3(KCNJ2):c.252G>A (p.Met84Ile)
|
|
|
NM_000891.3(KCNJ2):c.259A>G (p.Ile87Val)
|
rs748958117
|
|
NM_000891.3(KCNJ2):c.261C>G (p.Ile87Met)
|
|
|
NM_000891.3(KCNJ2):c.265T>C (p.Cys89Arg)
|
|
|
NM_000891.3(KCNJ2):c.271G>A (p.Ala91Thr)
|
rs2144376712
|
|
NM_000891.3(KCNJ2):c.272C>T (p.Ala91Val)
|
|
|
NM_000891.3(KCNJ2):c.285A>T (p.Ser95=)
|
rs1388829981
|
|
NM_000891.3(KCNJ2):c.290T>C (p.Leu97Pro)
|
rs2144376751
|
|
NM_000891.3(KCNJ2):c.291_293del (p.Phe99del)
|
rs2074386225
|
|
NM_000891.3(KCNJ2):c.297T>C (p.Phe99=)
|
|
|
NM_000891.3(KCNJ2):c.299G>T (p.Gly100Val)
|
rs1598211153
|
|
NM_000891.3(KCNJ2):c.306G>C (p.Val102=)
|
rs2144376790
|
|
NM_000891.3(KCNJ2):c.317T>C (p.Ile106Thr)
|
|
|
NM_000891.3(KCNJ2):c.31A>G (p.Ile11Val)
|
|
|
NM_000891.3(KCNJ2):c.321T>C (p.Ala107=)
|
rs2074386434
|
|
NM_000891.3(KCNJ2):c.322C>T (p.Leu108=)
|
rs371331394
|
|
NM_000891.3(KCNJ2):c.324G>A (p.Leu108=)
|
rs900684102
|
|
NM_000891.3(KCNJ2):c.326T>A (p.Leu109His)
|
|
|
NM_000891.3(KCNJ2):c.326T>C (p.Leu109Pro)
|
rs1567822991
|
|
NM_000891.3(KCNJ2):c.333G>A (p.Gly111=)
|
rs2144376829
|
|
NM_000891.3(KCNJ2):c.341A>G (p.Asp114Gly)
|
rs2074386589
|
|
NM_000891.3(KCNJ2):c.371C>G (p.Ser124Cys)
|
rs2144376873
|
|
NM_000891.3(KCNJ2):c.373G>A (p.Glu125Lys)
|
rs2074386756
|
|
NM_000891.3(KCNJ2):c.394G>A (p.Ala132Thr)
|
rs2074386902
|
|
NM_000891.3(KCNJ2):c.402C>T (p.Leu134=)
|
|
|
NM_000891.3(KCNJ2):c.407_409delinsTTT (p.Ser136_Ile137delinsPhePhe)
|
rs864622292
|
|
NM_000891.3(KCNJ2):c.410T>A (p.Ile137Asn)
|
rs772055408
|
|
NM_000891.3(KCNJ2):c.410T>C (p.Ile137Thr)
|
|
|
NM_000891.3(KCNJ2):c.416C>T (p.Thr139Ile)
|
rs1060500052
|
|
NM_000891.3(KCNJ2):c.417C>A (p.Thr139=)
|
|
|
NM_000891.3(KCNJ2):c.417C>T (p.Thr139=)
|
|
|
NM_000891.3(KCNJ2):c.426C>G (p.Thr142=)
|
|
|
NM_000891.3(KCNJ2):c.42A>G (p.Ser14=)
|
rs2144376348
|
|
NM_000891.3(KCNJ2):c.431G>A (p.Gly144Asp)
|
rs199473377
|
|
NM_000891.3(KCNJ2):c.431G>C (p.Gly144Ala)
|
rs199473377
|
|
NM_000891.3(KCNJ2):c.431G>T (p.Gly144Val)
|
|
|
NM_000891.3(KCNJ2):c.434A>G (p.Tyr145Cys)
|
rs2074387117
|
|
NM_000891.3(KCNJ2):c.436G>A (p.Gly146Ser)
|
rs199473654
|
|
NM_000891.3(KCNJ2):c.437G>A (p.Gly146Asp)
|
rs199473379
|
|
NM_000891.3(KCNJ2):c.452C>T (p.Thr151Met)
|
|
|
NM_000891.3(KCNJ2):c.453G>C (p.Thr151=)
|
|
|
NM_000891.3(KCNJ2):c.459A>C (p.Glu153Asp)
|
|
|
NM_000891.3(KCNJ2):c.460T>G (p.Cys154Gly)
|
rs2144376982
|
|
NM_000891.3(KCNJ2):c.461G>A (p.Cys154Tyr)
|
rs199473380
|
|
NM_000891.3(KCNJ2):c.478A>G (p.Met160Val)
|
|
|
NM_000891.3(KCNJ2):c.481G>A (p.Val161Met)
|
rs2074387480
|
|
NM_000891.3(KCNJ2):c.489C>T (p.Phe163=)
|
|
|
NM_000891.3(KCNJ2):c.48A>G (p.Glu16=)
|
rs1470684052
|
|
NM_000891.3(KCNJ2):c.499G>T (p.Val167Leu)
|
rs140147979
|
|
NM_000891.3(KCNJ2):c.4G>C (p.Gly2Arg)
|
|
|
NM_000891.3(KCNJ2):c.500_514dup (p.Val167_Ile171dup)
|
rs2144377032
|
|
NM_000891.3(KCNJ2):c.510C>T (p.Ile170=)
|
|
|
NM_000891.3(KCNJ2):c.514G>A (p.Asp172Asn)
|
rs104894584
|
|
NM_000891.3(KCNJ2):c.517G>T (p.Ala173Ser)
|
rs778699148
|
|
NM_000891.3(KCNJ2):c.523A>C (p.Ile175Leu)
|
rs761209037
|
|
NM_000891.3(KCNJ2):c.52G>A (p.Gly18Ser)
|
rs947488726
|
|
NM_000891.3(KCNJ2):c.52G>C (p.Gly18Arg)
|
|
|
NM_000891.3(KCNJ2):c.531C>A (p.Gly177=)
|
|
|
NM_000891.3(KCNJ2):c.553A>G (p.Lys185Glu)
|
|
|
NM_000891.3(KCNJ2):c.557C>A (p.Pro186Gln)
|
rs104894581
|
|
NM_000891.3(KCNJ2):c.564G>A (p.Lys188=)
|
|
|
NM_000891.3(KCNJ2):c.566G>A (p.Arg189Lys)
|
rs199473381
|
|
NM_000891.3(KCNJ2):c.566G>C (p.Arg189Thr)
|
rs199473381
|
|
NM_000891.3(KCNJ2):c.569A>T (p.Asn190Ile)
|
rs1598211282
|
|
NM_000891.3(KCNJ2):c.575C>T (p.Thr192Ile)
|
rs199473655
|
|
NM_000891.3(KCNJ2):c.578T>A (p.Leu193His)
|
rs1555603955
|
|
NM_000891.3(KCNJ2):c.578T>G (p.Leu193Arg)
|
|
|
NM_000891.3(KCNJ2):c.580G>T (p.Val194Phe)
|
|
|
NM_000891.3(KCNJ2):c.585C>T (p.Phe195=)
|
|
|
NM_000891.3(KCNJ2):c.586A>C (p.Ser196Arg)
|
|
|
NM_000891.3(KCNJ2):c.591C>T (p.His197=)
|
|
|
NM_000891.3(KCNJ2):c.615C>T (p.Asp205=)
|
rs767844416
|
|
NM_000891.3(KCNJ2):c.617G>A (p.Gly206Asp)
|
|
|
NM_000891.3(KCNJ2):c.633G>A (p.Met211Ile)
|
|
|
NM_000891.3(KCNJ2):c.636G>A (p.Trp212Ter)
|
rs2144377213
|
|
NM_000891.3(KCNJ2):c.638G>A (p.Arg213Gln)
|
|
|
NM_000891.3(KCNJ2):c.643G>T (p.Gly215Cys)
|
|
|
NM_000891.3(KCNJ2):c.644G>A (p.Gly215Asp)
|
rs199473383
|
|
NM_000891.3(KCNJ2):c.646A>T (p.Asn216Tyr)
|
rs104894583
|
|
NM_000891.3(KCNJ2):c.647A>T (p.Asn216Ile)
|
rs2074388429
|
|
NM_000891.3(KCNJ2):c.652C>T (p.Arg218Trp)
|
rs104894578
|
|
NM_000891.3(KCNJ2):c.653G>A (p.Arg218Gln)
|
rs199473384
|
|
NM_000891.3(KCNJ2):c.653G>C (p.Arg218Pro)
|
rs199473384
|
|
NM_000891.3(KCNJ2):c.653G>T (p.Arg218Leu)
|
rs199473384
|
|
NM_000891.3(KCNJ2):c.659G>A (p.Ser220Asn)
|
rs2074388522
|
|
NM_000891.3(KCNJ2):c.668T>G (p.Val223Gly)
|
rs1555603969
|
|
NM_000891.3(KCNJ2):c.682C>T (p.Arg228Ter)
|
rs1060500053
|
|
NM_000891.3(KCNJ2):c.683G>A (p.Arg228Gln)
|
rs1234083049
|
|
NM_000891.3(KCNJ2):c.684A>C (p.Arg228=)
|
rs758144475
|
|
NM_000891.3(KCNJ2):c.690G>A (p.Gln230=)
|
rs2074388781
|
|
NM_000891.3(KCNJ2):c.696C>T (p.Leu232=)
|
|
|
NM_000891.3(KCNJ2):c.699A>G (p.Lys233=)
|
|
|
NM_000891.3(KCNJ2):c.6C>T (p.Gly2=)
|
|
|
NM_000891.3(KCNJ2):c.706A>C (p.Ile236Leu)
|
|
|
NM_000891.3(KCNJ2):c.70A>G (p.Met24Val)
|
|
|
NM_000891.3(KCNJ2):c.715G>T (p.Glu239Ter)
|
rs1555603974
|
|
NM_000891.3(KCNJ2):c.721G>A (p.Glu241Lys)
|
|
|
NM_000891.3(KCNJ2):c.721del (p.Glu241fs)
|
rs2074388917
|
|
NM_000891.3(KCNJ2):c.723G>A (p.Glu241=)
|
|
|
NM_000891.3(KCNJ2):c.743T>C (p.Ile248Thr)
|
|
|
NM_000891.3(KCNJ2):c.744A>G (p.Ile248Met)
|
|
|
NM_000891.3(KCNJ2):c.762T>C (p.Phe254=)
|
|
|
NM_000891.3(KCNJ2):c.763G>C (p.Asp255His)
|
|
|
NM_000891.3(KCNJ2):c.774C>T (p.Ile258=)
|
rs1057524125
|
|
NM_000891.3(KCNJ2):c.779G>A (p.Arg260His)
|
rs199473385
|
|
NM_000891.3(KCNJ2):c.784T>G (p.Phe262Val)
|
rs2074389312
|
|
NM_000891.3(KCNJ2):c.789G>C (p.Leu263=)
|
|
|
NM_000891.3(KCNJ2):c.792G>A (p.Val264=)
|
rs2144377441
|
|
NM_000891.3(KCNJ2):c.795C>T (p.Ser265=)
|
rs1381202025
|
|
NM_000891.3(KCNJ2):c.810C>T (p.Val270=)
|
rs1049263340
|
|
NM_000891.3(KCNJ2):c.828C>T (p.Asp276=)
|
|
|
NM_000891.3(KCNJ2):c.849T>C (p.Ser283=)
|
rs2074389639
|
|
NM_000891.3(KCNJ2):c.864C>T (p.Asp288=)
|
rs2144377560
|
|
NM_000891.3(KCNJ2):c.877G>C (p.Glu293Gln)
|
rs2144377579
|
|
NM_000891.3(KCNJ2):c.87C>A (p.Gly29=)
|
rs1027878057
|
|
NM_000891.3(KCNJ2):c.885G>A (p.Val295=)
|
|
|
NM_000891.3(KCNJ2):c.899G>A (p.Gly300Asp)
|
rs104894579
|
|
NM_000891.3(KCNJ2):c.899G>T (p.Gly300Val)
|
rs104894579
|
|
NM_000891.3(KCNJ2):c.89T>C (p.Phe30Ser)
|
|
|
NM_000891.3(KCNJ2):c.901A>C (p.Met301Leu)
|
rs786205818
|
|
NM_000891.3(KCNJ2):c.901A>G (p.Met301Val)
|
rs786205818
|
|
NM_000891.3(KCNJ2):c.913A>G (p.Thr305Ala)
|
rs199473387
|
|
NM_000891.3(KCNJ2):c.919A>G (p.Met307Val)
|
rs1555603994
|
|
NM_000891.3(KCNJ2):c.922A>T (p.Thr308Ser)
|
rs2144377666
|
|
NM_000891.3(KCNJ2):c.923C>T (p.Thr308Met)
|
|
|
NM_000891.3(KCNJ2):c.926C>T (p.Thr309Ile)
|
rs199473388
|
|
NM_000891.3(KCNJ2):c.929A>G (p.Gln310Arg)
|
rs1598211487
|
|
NM_000891.3(KCNJ2):c.934C>T (p.Arg312Cys)
|
rs199473389
|
|
NM_000891.3(KCNJ2):c.935G>A (p.Arg312His)
|
rs786205820
|
|
NM_000891.3(KCNJ2):c.939_944del (p.Ser314_Tyr315del)
|
rs2074390325
|
|
NM_000891.3(KCNJ2):c.93G>A (p.Gly31=)
|
|
|
NM_000891.3(KCNJ2):c.954T>G (p.Asn318Lys)
|
|
|
NM_000891.3(KCNJ2):c.96C>G (p.Asn32Lys)
|
|
|
NM_000891.3(KCNJ2):c.979G>A (p.Glu327Lys)
|
|
|
NM_000891.3(KCNJ2):c.97G>C (p.Gly33Arg)
|
rs375727662
|
|
NM_000891.3(KCNJ2):c.993T>C (p.Phe331=)
|
|
|
NM_000891.3(KCNJ2):c.999G>A (p.Glu333=)
|
rs2144377764
|
|
NM_001106.4(ACVR2B):c.100G>A (p.Ala34Thr)
|
|
|
NM_001106.4(ACVR2B):c.1075-19C>T
|
|
|
NM_001106.4(ACVR2B):c.1080C>T (p.Gly360=)
|
|
|
NM_001106.4(ACVR2B):c.10C>T (p.Pro4Ser)
|
rs2125710304
|
|
NM_001106.4(ACVR2B):c.1147C>T (p.Arg383Cys)
|
rs1559655653
|
|
NM_001106.4(ACVR2B):c.1148G>A (p.Arg383His)
|
rs1710030273
|
|
NM_001106.4(ACVR2B):c.1151T>C (p.Ile384Thr)
|
|
|
NM_001106.4(ACVR2B):c.1156A>C (p.Met386Leu)
|
rs1346683151
|
|
NM_001106.4(ACVR2B):c.1179G>T (p.Leu393=)
|
rs1710030723
|
|
NM_001106.4(ACVR2B):c.1186C>G (p.Leu396Val)
|
|
|
NM_001106.4(ACVR2B):c.1195C>G (p.Arg399Gly)
|
rs1575589844
|
|
NM_001106.4(ACVR2B):c.1213G>A (p.Gly405Arg)
|
|
|
NM_001106.4(ACVR2B):c.1219G>A (p.Val407Met)
|
rs750062087
|
|
NM_001106.4(ACVR2B):c.1252A>C (p.Ile418Leu)
|
|
|
NM_001106.4(ACVR2B):c.1287G>A (p.Glu429=)
|
|
|
NM_001106.4(ACVR2B):c.1451C>T (p.Ser484Leu)
|
|
|
NM_001106.4(ACVR2B):c.1489G>A (p.Val497Met)
|
|
|
NM_001106.4(ACVR2B):c.1530A>G (p.Ser510=)
|
|
|
NM_001106.4(ACVR2B):c.1534A>G (p.Ile512Val)
|
|
|
NM_001106.4(ACVR2B):c.1536C>T (p.Ile512=)
|
|
|
NM_001106.4(ACVR2B):c.1A>G (p.Met1Val)
|
rs1559642966
|
|
NM_001106.4(ACVR2B):c.20C>T (p.Ala7Val)
|
rs1709503298
|
|
NM_001106.4(ACVR2B):c.22C>T (p.Leu8Phe)
|
|
|
NM_001106.4(ACVR2B):c.260+12C>T
|
|
|
NM_001106.4(ACVR2B):c.260+1G>C
|
|
|
NM_001106.4(ACVR2B):c.261-8G>A
|
rs971663776
|
|
NM_001106.4(ACVR2B):c.343C>T (p.His115Tyr)
|
rs2125722719
|
|
NM_001106.4(ACVR2B):c.351A>G (p.Pro117=)
|
rs1709941256
|
|
NM_001106.4(ACVR2B):c.370+14G>A
|
rs377585519
|
|
NM_001106.4(ACVR2B):c.371-9G>C
|
rs374269276
|
|
NM_001106.4(ACVR2B):c.406C>T (p.Leu136Phe)
|
rs2125722964
|
|
NM_001106.4(ACVR2B):c.420C>T (p.Ala140=)
|
|
|
NM_001106.4(ACVR2B):c.481C>T (p.Arg161Trp)
|
rs375094633
|
|
NM_001106.4(ACVR2B):c.488G>A (p.Arg163His)
|
|
|
NM_001106.4(ACVR2B):c.507T>C (p.His169=)
|
|
|
NM_001106.4(ACVR2B):c.510G>C (p.Val170=)
|
|
|
NM_001106.4(ACVR2B):c.52+8C>T
|
rs1353190405
|
|
NM_001106.4(ACVR2B):c.542C>T (p.Pro181Leu)
|
|
|
NM_001106.4(ACVR2B):c.553G>C (p.Val185Leu)
|
rs1279855513
|
|
NM_001106.4(ACVR2B):c.553G>T (p.Val185Leu)
|
|
|
NM_001106.4(ACVR2B):c.578T>G (p.Leu193Arg)
|
|
|
NM_001106.4(ACVR2B):c.614G>A (p.Trp205Ter)
|
|
|
NM_001106.4(ACVR2B):c.652A>T (p.Ile218Phe)
|
|
|
NM_001106.4(ACVR2B):c.666+2T>C
|
|
|
NM_001106.4(ACVR2B):c.702C>T (p.Phe234=)
|
|
|
NM_001106.4(ACVR2B):c.738G>C (p.Gln246His)
|
|
|
NM_001106.4(ACVR2B):c.772G>A (p.Glu258Lys)
|
|
|
NM_001106.4(ACVR2B):c.930C>T (p.Gly310=)
|
|
|
NM_001106.4(ACVR2B):c.979G>A (p.Val327Ile)
|
rs774784440
|
|
NM_001106.4(ACVR2B):c.981A>G (p.Val327=)
|
|
|
NM_001106.4(ACVR2B):c.9G>A (p.Ala3=)
|
|
|
NM_001136271.3(NKX2-6):c.142G>T (p.Ala48Ser)
|
|
|
NM_001136271.3(NKX2-6):c.156G>T (p.Gly52=)
|
|
|
NM_001136271.3(NKX2-6):c.168C>A (p.His56Gln)
|
rs1801092012
|
|
NM_001136271.3(NKX2-6):c.196A>C (p.Lys66Gln)
|
rs545394251
|
|
NM_001136271.3(NKX2-6):c.226C>T (p.Pro76Ser)
|
|
|
NM_001136271.3(NKX2-6):c.281G>T (p.Gly94Val)
|
rs1801035668
|
|
NM_001136271.3(NKX2-6):c.291G>A (p.Ala97=)
|
|
|
NM_001136271.3(NKX2-6):c.298C>A (p.Pro100Thr)
|
|
|
NM_001136271.3(NKX2-6):c.29C>G (p.Pro10Arg)
|
rs747477274
|
|
NM_001136271.3(NKX2-6):c.314C>G (p.Thr105Ser)
|
|
|
NM_001136271.3(NKX2-6):c.315del (p.Arg106fs)
|
|
|
NM_001136271.3(NKX2-6):c.340A>C (p.Asn114His)
|
|
|
NM_001136271.3(NKX2-6):c.340_348dup (p.Asn114_Gly116dup)
|
rs780012501
|
|
NM_001136271.3(NKX2-6):c.359G>C (p.Arg120Pro)
|
rs61743032
|
|
NM_001136271.3(NKX2-6):c.364G>T (p.Gly122Cys)
|
rs772831506
|
|
NM_001136271.3(NKX2-6):c.367C>G (p.Arg123Gly)
|
rs1451266541
|
|
NM_001136271.3(NKX2-6):c.368G>A (p.Arg123His)
|
rs568127693
|
|
NM_001136271.3(NKX2-6):c.381C>G (p.Pro127=)
|
|
|
NM_001136271.3(NKX2-6):c.415T>C (p.Phe139Leu)
|
|
|
NM_001136271.3(NKX2-6):c.446G>A (p.Arg149Gln)
|
|
|
NM_001136271.3(NKX2-6):c.464G>C (p.Arg155Pro)
|
rs534202593
|
|
NM_001136271.3(NKX2-6):c.478C>T (p.Pro160Ser)
|
rs1461236642
|
|
NM_001136271.3(NKX2-6):c.516G>A (p.Thr172=)
|
rs2117594368
|
|
NM_001136271.3(NKX2-6):c.521C>T (p.Thr174Met)
|
|
|
NM_001136271.3(NKX2-6):c.543G>C (p.Gln181His)
|
rs1801027083
|
|
NM_001136271.3(NKX2-6):c.572G>T (p.Arg191Leu)
|
|
|
NM_001136271.3(NKX2-6):c.614C>T (p.Pro205Leu)
|
|
|
NM_001136271.3(NKX2-6):c.632C>G (p.Pro211Arg)
|
|
|
NM_001136271.3(NKX2-6):c.67C>A (p.Arg23=)
|
|
|
NM_001136271.3(NKX2-6):c.686C>T (p.Ala229Val)
|
rs1563303655
|
|
NM_001136271.3(NKX2-6):c.698C>A (p.Pro233His)
|
|
|
NM_001136271.3(NKX2-6):c.745G>A (p.Gly249Arg)
|
rs752427485
|
|
NM_001136271.3(NKX2-6):c.771C>G (p.Gly257=)
|
rs773766949
|
|
NM_001136271.3(NKX2-6):c.771C>T (p.Gly257=)
|
|
|
NM_001136271.3(NKX2-6):c.780C>T (p.Tyr260=)
|
|
|
NM_001136271.3(NKX2-6):c.801T>C (p.Pro267=)
|
|
|
NM_001136271.3(NKX2-6):c.867C>T (p.Gly289=)
|
rs1554510734
|
|
NM_001136271.3(NKX2-6):c.86_87insT (p.Pro30fs)
|
|
|
NM_001148.6(ANK2):c.10023A>G (p.Glu3341=)
|
rs2154030257
|
|
NM_001148.6(ANK2):c.10026A>C (p.Ala3342=)
|
|
|
NM_001148.6(ANK2):c.10050C>T (p.Val3350=)
|
|
|
NM_001148.6(ANK2):c.10064A>G (p.Gln3355Arg)
|
|
|
NM_001148.6(ANK2):c.10080G>A (p.Gln3360=)
|
rs1214575789
|
|
NM_001148.6(ANK2):c.10085C>T (p.Ser3362Leu)
|
rs751293026
|
|
NM_001148.6(ANK2):c.10090C>G (p.Leu3364Val)
|
|
|
NM_001148.6(ANK2):c.10093G>T (p.Asp3365Tyr)
|
|
|
NM_001148.6(ANK2):c.10106A>G (p.Gln3369Arg)
|
|
|
NM_001148.6(ANK2):c.10107_10112dup (p.Thr3371_Val3372insLysThr)
|
|
|
NM_001148.6(ANK2):c.10138G>A (p.Ala3380Thr)
|
|
|
NM_001148.6(ANK2):c.10157A>G (p.Asn3386Ser)
|
rs1564063003
|
|
NM_001148.6(ANK2):c.10180G>T (p.Ala3394Ser)
|
rs777285562
|
|
NM_001148.6(ANK2):c.10183A>G (p.Ser3395Gly)
|
|
|
NM_001148.6(ANK2):c.10190T>C (p.Leu3397Ser)
|
|
|
NM_001148.6(ANK2):c.10194T>G (p.Asp3398Glu)
|
|
|
NM_001148.6(ANK2):c.10206A>C (p.Lys3402Asn)
|
rs1442066284
|
|
NM_001148.6(ANK2):c.10223G>T (p.Arg3408Leu)
|
|
|
NM_001148.6(ANK2):c.10225A>G (p.Ser3409Gly)
|
|
|
NM_001148.6(ANK2):c.10229A>G (p.Tyr3410Cys)
|
|
|
NM_001148.6(ANK2):c.10253G>A (p.Arg3418Lys)
|
|
|
NM_001148.6(ANK2):c.10260G>A (p.Arg3420=)
|
|
|
NM_001148.6(ANK2):c.10294G>T (p.Ala3432Ser)
|
rs1564065329
|
|
NM_001148.6(ANK2):c.10295C>A (p.Ala3432Asp)
|
rs147245875
|
|
NM_001148.6(ANK2):c.10296C>G (p.Ala3432=)
|
rs2154030868
|
|
NM_001148.6(ANK2):c.10309A>T (p.Ile3437Leu)
|
|
|
NM_001148.6(ANK2):c.10336A>G (p.Ser3446Gly)
|
rs1589057836
|
|
NM_001148.6(ANK2):c.10348A>G (p.Thr3450Ala)
|
rs2096014347
|
|
NM_001148.6(ANK2):c.10352C>G (p.Ser3451Cys)
|
rs1219397825
|
|
NM_001148.6(ANK2):c.10354T>G (p.Ser3452Ala)
|
|
|
NM_001148.6(ANK2):c.10362G>C (p.Arg3454Ser)
|
rs55726422
|
|
NM_001148.6(ANK2):c.10362G>T (p.Arg3454Ser)
|
rs55726422
|
|
NM_001148.6(ANK2):c.10364G>T (p.Gly3455Val)
|
rs533201814
|
|
NM_001148.6(ANK2):c.10366G>A (p.Gly3456Ser)
|
|
|
NM_001148.6(ANK2):c.10366G>C (p.Gly3456Arg)
|
rs1477856046
|
|
NM_001148.6(ANK2):c.10383A>G (p.Lys3461=)
|
|
|
NM_001148.6(ANK2):c.10397A>C (p.His3466Pro)
|
rs1589060809
|
|
NM_001148.6(ANK2):c.1045A>G (p.Lys349Glu)
|
|
|
NM_001148.6(ANK2):c.10470T>G (p.Asp3490Glu)
|
rs2154031241
|
|
NM_001148.6(ANK2):c.10476G>A (p.Leu3492=)
|
|
|
NM_001148.6(ANK2):c.10480_10481dup (p.Gln3494fs)
|
rs2154031263
|
|
NM_001148.6(ANK2):c.10483_10486del (p.Ser3495fs)
|
rs1564067737
|
|
NM_001148.6(ANK2):c.10507T>G (p.Ser3503Ala)
|
|
|
NM_001148.6(ANK2):c.10512C>T (p.Asp3504=)
|
|
|
NM_001148.6(ANK2):c.10523G>A (p.Ser3508Asn)
|
rs1260089933
|
|
NM_001148.6(ANK2):c.10556T>C (p.Leu3519Pro)
|
|
|
NM_001148.6(ANK2):c.1056A>G (p.Leu352=)
|
|
|
NM_001148.6(ANK2):c.10595T>A (p.Ile3532Asn)
|
rs2154031469
|
|
NM_001148.6(ANK2):c.10608G>A (p.Arg3536=)
|
rs919212543
|
|
NM_001148.6(ANK2):c.10612A>G (p.Ile3538Val)
|
rs2154031500
|
|
NM_001148.6(ANK2):c.10632G>A (p.Glu3544=)
|
rs114891456
|
|
NM_001148.6(ANK2):c.10669G>A (p.Asp3557Asn)
|
|
|
NM_001148.6(ANK2):c.10672C>T (p.His3558Tyr)
|
rs1280167255
|
|
NM_001148.6(ANK2):c.10681+16C>T
|
|
|
NM_001148.6(ANK2):c.10682-20C>T
|
|
|
NM_001148.6(ANK2):c.10682-8T>C
|
rs2154036877
|
|
NM_001148.6(ANK2):c.10685C>T (p.Pro3562Leu)
|
rs779374859
|
|
NM_001148.6(ANK2):c.10689G>C (p.Gln3563His)
|
rs1589099894
|
|
NM_001148.6(ANK2):c.106C>T (p.Leu36Phe)
|
|
|
NM_001148.6(ANK2):c.10702C>A (p.Arg3568=)
|
rs72556376
|
|
NM_001148.6(ANK2):c.10707C>A (p.Ile3569=)
|
rs539298479
|
|
NM_001148.6(ANK2):c.1070C>A (p.Pro357His)
|
|
|
NM_001148.6(ANK2):c.10714A>G (p.Arg3572Gly)
|
|
|
NM_001148.6(ANK2):c.10726A>G (p.Ile3576Val)
|
|
|
NM_001148.6(ANK2):c.10737C>T (p.His3579=)
|
rs2096173164
|
|
NM_001148.6(ANK2):c.10744T>G (p.Phe3582Val)
|
rs2154037371
|
|
NM_001148.6(ANK2):c.10749C>A (p.Ser3583Arg)
|
rs1589100801
|
|
NM_001148.6(ANK2):c.10753A>T (p.Thr3585Ser)
|
rs955760988
|
|
NM_001148.6(ANK2):c.10757-6T>G
|
rs1554578788
|
|
NM_001148.6(ANK2):c.10779C>T (p.Phe3593=)
|
|
|
NM_001148.6(ANK2):c.10791A>G (p.Gln3597=)
|
|
|
NM_001148.6(ANK2):c.10800A>G (p.Gln3600=)
|
rs770882355
|
|
NM_001148.6(ANK2):c.10820A>G (p.Asn3607Ser)
|
rs367788127
|
|
NM_001148.6(ANK2):c.10823C>G (p.Ser3608Cys)
|
|
|
NM_001148.6(ANK2):c.10831G>A (p.Asp3611Asn)
|
rs369777545
|
|
NM_001148.6(ANK2):c.10863A>G (p.Leu3621=)
|
rs2154047631
|
|
NM_001148.6(ANK2):c.10870G>A (p.Asp3624Asn)
|
rs2154047653
|
|
NM_001148.6(ANK2):c.10877A>C (p.Lys3626Thr)
|
|
|
NM_001148.6(ANK2):c.10888+17A>G
|
rs2154047844
|
|
NM_001148.6(ANK2):c.10888+9G>A
|
|
|
NM_001148.6(ANK2):c.10889-12C>T
|
|
|
NM_001148.6(ANK2):c.10889-20C>G
|
|
|
NM_001148.6(ANK2):c.10889-6T>C
|
|
|
NM_001148.6(ANK2):c.10889-7G>A
|
rs2154052597
|
|
NM_001148.6(ANK2):c.10889-8T>A
|
rs770001257
|
|
NM_001148.6(ANK2):c.108C>T (p.Leu36=)
|
|
|
NM_001148.6(ANK2):c.10920C>G (p.Ile3640Met)
|
|
|
NM_001148.6(ANK2):c.10925G>A (p.Arg3642Gln)
|
|
|
NM_001148.6(ANK2):c.1093T>A (p.Tyr365Asn)
|
rs2049012279
|
|
NM_001148.6(ANK2):c.10947G>A (p.Met3649Ile)
|
rs1057522614
|
|
NM_001148.6(ANK2):c.10959A>G (p.Thr3653=)
|
|
|
NM_001148.6(ANK2):c.1095C>T (p.Tyr365=)
|
rs1057521408
|
|
NM_001148.6(ANK2):c.10963C>T (p.Pro3655Ser)
|
|
|
NM_001148.6(ANK2):c.10972G>A (p.Glu3658Lys)
|
|
|
NM_001148.6(ANK2):c.10976G>A (p.Arg3659His)
|
rs556640912
|
|
NM_001148.6(ANK2):c.10976G>T (p.Arg3659Leu)
|
rs556640912
|
|
NM_001148.6(ANK2):c.11004A>G (p.Glu3668=)
|
rs771352067
|
|
NM_001148.6(ANK2):c.11015C>T (p.Thr3672Ile)
|
|
|
NM_001148.6(ANK2):c.11032+19_11032+20del
|
rs775672634
|
|
NM_001148.6(ANK2):c.11032+19_11032+22del
|
rs772253914
|
|
NM_001148.6(ANK2):c.11032+19_11032+24del
|
rs746130839
|
|
NM_001148.6(ANK2):c.11032+19_11032+28del
|
|
|
NM_001148.6(ANK2):c.11032+20TG[10]
|
rs34201791
|
|
NM_001148.6(ANK2):c.11032+20TG[11]
|
rs34201791
|
|
NM_001148.6(ANK2):c.11032+20TG[12]
|
rs34201791
|
|
NM_001148.6(ANK2):c.11032+20TG[13]
|
rs34201791
|
|
NM_001148.6(ANK2):c.11032+20TG[14]
|
rs34201791
|
|
NM_001148.6(ANK2):c.11032+20TG[16]
|
rs34201791
|
|
NM_001148.6(ANK2):c.11032+20TG[17]
|
rs34201791
|
|
NM_001148.6(ANK2):c.11032+20TG[18]
|
rs34201791
|
|
NM_001148.6(ANK2):c.11032+20TG[19]
|
rs34201791
|
|
NM_001148.6(ANK2):c.11032+20TG[20]
|
rs34201791
|
|
NM_001148.6(ANK2):c.11032+20TG[21]
|
rs34201791
|
|
NM_001148.6(ANK2):c.11032+20TG[22]
|
|
|
NM_001148.6(ANK2):c.11032+20TG[7]
|
rs34201791
|
|
NM_001148.6(ANK2):c.11032+20TG[9]
|
rs34201791
|
|
NM_001148.6(ANK2):c.11032+4_11032+7dup
|
|
|
NM_001148.6(ANK2):c.11032+8TG[4]
|
rs749676836
|
|
NM_001148.6(ANK2):c.11047C>A (p.Gln3683Lys)
|
|
|
NM_001148.6(ANK2):c.11063C>G (p.Thr3688Ser)
|
rs2096584434
|
|
NM_001148.6(ANK2):c.11064T>C (p.Thr3688=)
|
|
|
NM_001148.6(ANK2):c.11088G>A (p.Glu3696=)
|
rs2154060249
|
|
NM_001148.6(ANK2):c.11105A>G (p.Glu3702Gly)
|
|
|
NM_001148.6(ANK2):c.11110G>A (p.Glu3704Lys)
|
|
|
NM_001148.6(ANK2):c.11117G>A (p.Cys3706Tyr)
|
|
|
NM_001148.6(ANK2):c.11126C>T (p.Pro3709Leu)
|
rs1057522339
|
|
NM_001148.6(ANK2):c.11128C>T (p.Pro3710Ser)
|
|
|
NM_001148.6(ANK2):c.11129C>T (p.Pro3710Leu)
|
|
|
NM_001148.6(ANK2):c.11131A>G (p.Ile3711Val)
|
|
|
NM_001148.6(ANK2):c.11143G>C (p.Glu3715Gln)
|
|
|
NM_001148.6(ANK2):c.11151T>A (p.Ile3717=)
|
rs1216705074
|
|
NM_001148.6(ANK2):c.11186C>T (p.Pro3729Leu)
|
rs2154060505
|
|
NM_001148.6(ANK2):c.11196G>A (p.Glu3732=)
|
|
|
NM_001148.6(ANK2):c.11200G>T (p.Asp3734Tyr)
|
rs767353282
|
|
NM_001148.6(ANK2):c.11211A>G (p.Ala3737=)
|
|
|
NM_001148.6(ANK2):c.1121A>G (p.His374Arg)
|
rs2153626751
|
|
NM_001148.6(ANK2):c.11227C>G (p.Gln3743Glu)
|
|
|
NM_001148.6(ANK2):c.11229A>T (p.Gln3743His)
|
rs786205738
|
|
NM_001148.6(ANK2):c.11271G>A (p.Met3757Ile)
|
|
|
NM_001148.6(ANK2):c.11280G>A (p.Leu3760=)
|
rs769085254
|
|
NM_001148.6(ANK2):c.11318+12A>G
|
|
|
NM_001148.6(ANK2):c.11318+15A>C
|
|
|
NM_001148.6(ANK2):c.11318+18G>T
|
|
|
NM_001148.6(ANK2):c.11319-16G>T
|
rs2154065644
|
|
NM_001148.6(ANK2):c.11319-20A>G
|
|
|
NM_001148.6(ANK2):c.11327C>G (p.Thr3776Ser)
|
|
|
NM_001148.6(ANK2):c.11333G>A (p.Gly3778Glu)
|
|
|
NM_001148.6(ANK2):c.11349G>C (p.Glu3783Asp)
|
|
|
NM_001148.6(ANK2):c.1136G>A (p.Arg379His)
|
rs186264035
|
|
NM_001148.6(ANK2):c.11373C>T (p.Pro3791=)
|
rs1252658200
|
|
NM_001148.6(ANK2):c.11380C>T (p.Pro3794Ser)
|
rs1057521510
|
|
NM_001148.6(ANK2):c.11383A>T (p.Ser3795Cys)
|
|
|
NM_001148.6(ANK2):c.11384G>A (p.Ser3795Asn)
|
|
|
NM_001148.6(ANK2):c.11385C>G (p.Ser3795Arg)
|
|
|
NM_001148.6(ANK2):c.11390C>T (p.Thr3797Ile)
|
|
|
NM_001148.6(ANK2):c.11408C>T (p.Thr3803Ile)
|
|
|
NM_001148.6(ANK2):c.11436C>G (p.Leu3812=)
|
rs1057524537
|
|
NM_001148.6(ANK2):c.11442C>T (p.Thr3814=)
|
rs767815065
|
|
NM_001148.6(ANK2):c.11443C>A (p.Pro3815Thr)
|
|
|
NM_001148.6(ANK2):c.11455G>C (p.Glu3819Gln)
|
rs1203748896
|
|
NM_001148.6(ANK2):c.11462G>T (p.Gly3821Val)
|
|
|
NM_001148.6(ANK2):c.11468C>G (p.Ser3823Cys)
|
rs776355038
|
|
NM_001148.6(ANK2):c.11488G>A (p.Glu3830Lys)
|
rs1406909211
|
|
NM_001148.6(ANK2):c.11500G>A (p.Glu3834Lys)
|
|
|
NM_001148.6(ANK2):c.1150C>T (p.Leu384Phe)
|
|
|
NM_001148.6(ANK2):c.11522C>T (p.Pro3841Leu)
|
rs767769233
|
|
NM_001148.6(ANK2):c.11548G>A (p.Glu3850Lys)
|
rs143985655
|
|
NM_001148.6(ANK2):c.11551T>C (p.Ser3851Pro)
|
|
|
NM_001148.6(ANK2):c.11552C>T (p.Ser3851Phe)
|
|
|
NM_001148.6(ANK2):c.11567C>A (p.Pro3856His)
|
rs1290892227
|
|
NM_001148.6(ANK2):c.11586C>G (p.Leu3862=)
|
|
|
NM_001148.6(ANK2):c.11587G>A (p.Asp3863Asn)
|
rs886039041
|
|
NM_001148.6(ANK2):c.11587G>T (p.Asp3863Tyr)
|
rs886039041
|
|
NM_001148.6(ANK2):c.115G>T (p.Ala39Ser)
|
rs1463855073
|
|
NM_001148.6(ANK2):c.11611-3T>A
|
rs2096797360
|
|
NM_001148.6(ANK2):c.11611-5T>A
|
rs1589326607
|
|
NM_001148.6(ANK2):c.11611-6G>C
|
|
|
NM_001148.6(ANK2):c.11611G>A (p.Gly3871Arg)
|
rs786205729
|
|
NM_001148.6(ANK2):c.1163G>A (p.Arg388Lys)
|
rs200799668
|
|
NM_001148.6(ANK2):c.11650GAA[2] (p.Glu3886del)
|
rs776600674
|
|
NM_001148.6(ANK2):c.11655A>C (p.Glu3885Asp)
|
rs1198488694
|
|
NM_001148.6(ANK2):c.11661C>T (p.Tyr3887=)
|
rs1476306807
|
|
NM_001148.6(ANK2):c.11662A>T (p.Ile3888Phe)
|
|
|
NM_001148.6(ANK2):c.11663T>C (p.Ile3888Thr)
|
|
|
NM_001148.6(ANK2):c.11667T>A (p.Asp3889Glu)
|
|
|
NM_001148.6(ANK2):c.11673_11674inv (p.Gly3892Arg)
|
|
|
NM_001148.6(ANK2):c.11680A>G (p.Thr3894Ala)
|
|
|
NM_001148.6(ANK2):c.11688A>G (p.Val3896=)
|
rs2096800806
|
|
NM_001148.6(ANK2):c.11694+11G>T
|
|
|
NM_001148.6(ANK2):c.11694+1G>T
|
|
|
NM_001148.6(ANK2):c.11694+3A>G
|
rs1554597170
|
|
NM_001148.6(ANK2):c.11695-4dup
|
|
|
NM_001148.6(ANK2):c.11695-7A>G
|
|
|
NM_001148.6(ANK2):c.11714G>C (p.Arg3905Thr)
|
|
|
NM_001148.6(ANK2):c.11724A>G (p.Val3908=)
|
|
|
NM_001148.6(ANK2):c.11736C>T (p.Gly3912=)
|
|
|
NM_001148.6(ANK2):c.1173G>T (p.Pro391=)
|
rs755621902
|
|
NM_001148.6(ANK2):c.1174A>T (p.Asn392Tyr)
|
|
|
NM_001148.6(ANK2):c.11757G>C (p.Met3919Ile)
|
rs774756538
|
|
NM_001148.6(ANK2):c.1177G>T (p.Ala393Ser)
|
rs147458476
|
|
NM_001148.6(ANK2):c.11807A>G (p.Tyr3936Cys)
|
rs377555678
|
|
NM_001148.6(ANK2):c.11824C>T (p.Arg3942Cys)
|
rs1344245343
|
|
NM_001148.6(ANK2):c.11843A>G (p.Asp3948Gly)
|
rs1180995288
|
|
NM_001148.6(ANK2):c.11844C>T (p.Asp3948=)
|
|
|
NM_001148.6(ANK2):c.11847C>G (p.Thr3949=)
|
rs771225003
|
|
NM_001148.6(ANK2):c.11859+10C>A
|
|
|
NM_001148.6(ANK2):c.11859+10C>T
|
rs769280185
|
|
NM_001148.6(ANK2):c.11859+11C>G
|
rs2154075333
|
|
NM_001148.6(ANK2):c.11859+19C>G
|
|
|
NM_001148.6(ANK2):c.11859+2T>G
|
|
|
NM_001148.6(ANK2):c.11860-11C>T
|
|
|
NM_001148.6(ANK2):c.11860G>C (p.Asp3954His)
|
rs1319198451
|
|
NM_001148.6(ANK2):c.11863A>G (p.Asn3955Asp)
|
rs1060501165
|
|
NM_001148.6(ANK2):c.11866A>G (p.Asn3956Asp)
|
|
|
NM_001148.6(ANK2):c.11869G>A (p.Glu3957Lys)
|
rs756817921
|
|
NM_001148.6(ANK2):c.1188+14A>T
|
rs2153626902
|
|
NM_001148.6(ANK2):c.1188+18C>T
|
rs2049052876
|
|
NM_001148.6(ANK2):c.1188+8T>G
|
|
|
NM_001148.6(ANK2):c.1189-17G>A
|
rs756680317
|
|
NM_001148.6(ANK2):c.1189-3C>T
|
|
|
NM_001148.6(ANK2):c.118_186+175delinsGAGCTAATGTTGCTGAAAAATTAGCTCC
|
|
|
NM_001148.6(ANK2):c.1203A>G (p.Pro401=)
|
|
|
NM_001148.6(ANK2):c.1207C>T (p.His403Tyr)
|
rs2050499312
|
|
NM_001148.6(ANK2):c.1229G>A (p.Arg410His)
|
|
|
NM_001148.6(ANK2):c.1241T>C (p.Met414Thr)
|
|
|
NM_001148.6(ANK2):c.127A>G (p.Asn43Asp)
|
rs2153225129
|
|
NM_001148.6(ANK2):c.1293C>A (p.Gly431=)
|
rs369287939
|
|
NM_001148.6(ANK2):c.1294C>T (p.Leu432Phe)
|
rs144113099
|
|
NM_001148.6(ANK2):c.1307A>G (p.His436Arg)
|
rs2050662885
|
|
NM_001148.6(ANK2):c.1345C>T (p.Leu449Phe)
|
rs2050679496
|
|
NM_001148.6(ANK2):c.1364C>A (p.Ala455Asp)
|
rs1305931806
|
|
NM_001148.6(ANK2):c.1373A>G (p.Asp458Gly)
|
rs2153635253
|
|
NM_001148.6(ANK2):c.1375G>A (p.Val459Ile)
|
|
|
NM_001148.6(ANK2):c.1378A>C (p.Thr460Pro)
|
rs368129159
|
|
NM_001148.6(ANK2):c.1378A>G (p.Thr460Ala)
|
rs368129159
|
|
NM_001148.6(ANK2):c.1386+18C>T
|
|
|
NM_001148.6(ANK2):c.1387-19G>A
|
|
|
NM_001148.6(ANK2):c.1387-19G>T
|
|
|
NM_001148.6(ANK2):c.1387-4G>A
|
|
|
NM_001148.6(ANK2):c.1389T>C (p.Arg463=)
|
rs945947703
|
|
NM_001148.6(ANK2):c.1398G>A (p.Thr466=)
|
|
|
NM_001148.6(ANK2):c.1417C>A (p.Arg473=)
|
rs864622760
|
|
NM_001148.6(ANK2):c.1418G>A (p.Arg473Gln)
|
|
|
NM_001148.6(ANK2):c.1441C>A (p.Arg481=)
|
|
|
NM_001148.6(ANK2):c.1442G>A (p.Arg481Gln)
|
rs2055114546
|
|
NM_001148.6(ANK2):c.1445G>C (p.Cys482Ser)
|
|
|
NM_001148.6(ANK2):c.1450C>T (p.Leu484=)
|
|
|
NM_001148.6(ANK2):c.1474G>A (p.Ala492Thr)
|
rs2153658293
|
|
NM_001148.6(ANK2):c.1485G>T (p.Arg495Ser)
|
rs868445887
|
|
NM_001148.6(ANK2):c.148T>A (p.Tyr50Asn)
|
|
|
NM_001148.6(ANK2):c.1539C>T (p.Val513=)
|
rs1193723935
|
|
NM_001148.6(ANK2):c.155A>G (p.Lys52Arg)
|
|
|
NM_001148.6(ANK2):c.1574C>T (p.Ala525Val)
|
rs1198719430
|
|
NM_001148.6(ANK2):c.157G>A (p.Gly53Arg)
|
|
|
NM_001148.6(ANK2):c.157G>C (p.Gly53Arg)
|
rs1328490060
|
|
NM_001148.6(ANK2):c.1580C>T (p.Thr527Ile)
|
|
|
NM_001148.6(ANK2):c.1583C>T (p.Thr528Ile)
|
|
|
NM_001148.6(ANK2):c.1584A>C (p.Thr528=)
|
|
|
NM_001148.6(ANK2):c.1608C>A (p.Ile536=)
|
|
|
NM_001148.6(ANK2):c.1614C>T (p.Ala538=)
|
rs2153688749
|
|
NM_001148.6(ANK2):c.161G>A (p.Gly54Asp)
|
|
|
NM_001148.6(ANK2):c.1620G>A (p.Glu540=)
|
|
|
NM_001148.6(ANK2):c.1623C>T (p.Gly541=)
|
|
|
NM_001148.6(ANK2):c.1635G>A (p.Val545=)
|
rs200115563
|
|
NM_001148.6(ANK2):c.1641A>G (p.Ser547=)
|
|
|
NM_001148.6(ANK2):c.1645C>T (p.Leu549=)
|
|
|
NM_001148.6(ANK2):c.1645_1646delinsAC (p.Leu549Thr)
|
|
|
NM_001148.6(ANK2):c.1671C>T (p.Ser557=)
|
rs2059592026
|
|
NM_001148.6(ANK2):c.1682A>G (p.Lys561Arg)
|
|
|
NM_001148.6(ANK2):c.1683+16T>C
|
|
|
NM_001148.6(ANK2):c.1683+17C>A
|
|
|
NM_001148.6(ANK2):c.1684-8A>G
|
|
|
NM_001148.6(ANK2):c.1711G>T (p.Ala571Ser)
|
rs1400057725
|
|
NM_001148.6(ANK2):c.1723A>G (p.Ser575Gly)
|
|
|
NM_001148.6(ANK2):c.1724G>T (p.Ser575Ile)
|
|
|
NM_001148.6(ANK2):c.172A>G (p.Asn58Asp)
|
rs2153225176
|
|
NM_001148.6(ANK2):c.1733T>C (p.Val578Ala)
|
|
|
NM_001148.6(ANK2):c.1757G>A (p.Arg586His)
|
|
|
NM_001148.6(ANK2):c.1757G>T (p.Arg586Leu)
|
|
|
NM_001148.6(ANK2):c.1761T>A (p.Ala587=)
|
|
|
NM_001148.6(ANK2):c.1762G>C (p.Ala588Pro)
|
|
|
NM_001148.6(ANK2):c.1765G>A (p.Ala589Thr)
|
rs1288246947
|
|
NM_001148.6(ANK2):c.176C>T (p.Thr59Ile)
|
rs786205718
|
|
NM_001148.6(ANK2):c.1776A>G (p.Ala592=)
|
|
|
NM_001148.6(ANK2):c.1782+17C>T
|
|
|
NM_001148.6(ANK2):c.1782+18G>A
|
rs974888693
|
|
NM_001148.6(ANK2):c.1793C>T (p.Thr598Ile)
|
|
|
NM_001148.6(ANK2):c.1813C>T (p.His605Tyr)
|
rs898855441
|
|
NM_001148.6(ANK2):c.1814A>G (p.His605Arg)
|
rs2061066852
|
|
NM_001148.6(ANK2):c.186+16C>G
|
|
|
NM_001148.6(ANK2):c.186+3A>G
|
|
|
NM_001148.6(ANK2):c.186+8C>T
|
rs1263399987
|
|
NM_001148.6(ANK2):c.1860T>C (p.Ala620=)
|
rs2061079301
|
|
NM_001148.6(ANK2):c.1863C>T (p.Ser621=)
|
|
|
NM_001148.6(ANK2):c.1864C>G (p.Pro622Ala)
|
rs1554403792
|
|
NM_001148.6(ANK2):c.187-15T>C
|
|
|
NM_001148.6(ANK2):c.187-8TC[2]
|
rs1060501160
|
|
NM_001148.6(ANK2):c.1874C>A (p.Thr625Asn)
|
|
|
NM_001148.6(ANK2):c.1881+10A>G
|
|
|
NM_001148.6(ANK2):c.1895C>T (p.Pro632Leu)
|
rs929567243
|
|
NM_001148.6(ANK2):c.1905T>C (p.Ile635=)
|
rs1060504154
|
|
NM_001148.6(ANK2):c.1920T>A (p.Asn640Lys)
|
rs2153713584
|
|
NM_001148.6(ANK2):c.1941A>G (p.Thr647=)
|
rs2153713621
|
|
NM_001148.6(ANK2):c.1941A>T (p.Thr647=)
|
rs2153713621
|
|
NM_001148.6(ANK2):c.1949A>C (p.Asn650Thr)
|
rs191468663
|
|
NM_001148.6(ANK2):c.1968C>G (p.Asn656Lys)
|
|
|
NM_001148.6(ANK2):c.1969A>G (p.Ile657Val)
|
|
|
NM_001148.6(ANK2):c.198C>A (p.Asn66Lys)
|
|
|
NM_001148.6(ANK2):c.2002C>A (p.Leu668Met)
|
|
|
NM_001148.6(ANK2):c.2011C>A (p.Gln671Lys)
|
rs1346440015
|
|
NM_001148.6(ANK2):c.2013G>A (p.Gln671=)
|
|
|
NM_001148.6(ANK2):c.2018G>T (p.Gly673Val)
|
rs947398548
|
|
NM_001148.6(ANK2):c.2025A>G (p.Thr675=)
|
|
|
NM_001148.6(ANK2):c.2054G>C (p.Gly685Ala)
|
rs1200160910
|
|
NM_001148.6(ANK2):c.2054G>T (p.Gly685Val)
|
rs1200160910
|
|
NM_001148.6(ANK2):c.2079+14T>C
|
|
|
NM_001148.6(ANK2):c.2080-5T>C
|
|
|
NM_001148.6(ANK2):c.2117A>G (p.Asp706Gly)
|
|
|
NM_001148.6(ANK2):c.2144C>A (p.Thr715Asn)
|
|
|
NM_001148.6(ANK2):c.2158G>A (p.Asp720Asn)
|
rs1554422359
|
|
NM_001148.6(ANK2):c.2165A>G (p.Asp722Gly)
|
|
|
NM_001148.6(ANK2):c.2178+9A>G
|
|
|
NM_001148.6(ANK2):c.2178G>A (p.Lys726=)
|
rs2065381346
|
|
NM_001148.6(ANK2):c.2187C>T (p.Tyr729=)
|
|
|
NM_001148.6(ANK2):c.2189C>A (p.Thr730Lys)
|
|
|
NM_001148.6(ANK2):c.2191C>A (p.Pro731Thr)
|
rs942680150
|
|
NM_001148.6(ANK2):c.2204C>T (p.Ala735Val)
|
rs868661838
|
|
NM_001148.6(ANK2):c.2247G>A (p.Lys749=)
|
rs2153731993
|
|
NM_001148.6(ANK2):c.2277+17C>G
|
rs2153732081
|
|
NM_001148.6(ANK2):c.2278-20G>A
|
|
|
NM_001148.6(ANK2):c.2278-20G>T
|
rs1323464610
|
|
NM_001148.6(ANK2):c.2278-7T>C
|
rs1345888282
|
|
NM_001148.6(ANK2):c.2278-7T>G
|
|
|
NM_001148.6(ANK2):c.2280C>G (p.Asn760Lys)
|
rs1060501162
|
|
NM_001148.6(ANK2):c.2280C>T (p.Asn760=)
|
rs1060501162
|
|
NM_001148.6(ANK2):c.2288C>G (p.Thr763Arg)
|
rs1279672563
|
|
NM_001148.6(ANK2):c.231G>T (p.Val77=)
|
rs149699185
|
|
NM_001148.6(ANK2):c.2326A>G (p.Ile776Val)
|
rs947769072
|
|
NM_001148.6(ANK2):c.2359C>G (p.Pro787Ala)
|
|
|
NM_001148.6(ANK2):c.2366C>A (p.Ala789Asp)
|
rs1474018346
|
|
NM_001148.6(ANK2):c.2373T>C (p.Thr791=)
|
|
|
NM_001148.6(ANK2):c.2376+12G>C
|
|
|
NM_001148.6(ANK2):c.2377-17_2377-14del
|
|
|
NM_001148.6(ANK2):c.2397G>T (p.Ala799=)
|
rs2069014217
|
|
NM_001148.6(ANK2):c.2421C>T (p.Ile807=)
|
|
|
NM_001148.6(ANK2):c.2426T>C (p.Val809Ala)
|
|
|
NM_001148.6(ANK2):c.2427G>C (p.Val809=)
|
rs759057278
|
|
NM_001148.6(ANK2):c.2433C>T (p.Asp811=)
|
rs2153746997
|
|
NM_001148.6(ANK2):c.2460CAC[4] (p.Thr826del)
|
rs770530257
|
|
NM_001148.6(ANK2):c.2460CAC[6] (p.Thr826dup)
|
rs770530257
|
|
NM_001148.6(ANK2):c.2476-10G>T
|
rs878854257
|
|
NM_001148.6(ANK2):c.2476-6T>C
|
rs2153793959
|
|
NM_001148.6(ANK2):c.2481T>C (p.Ile827=)
|
rs1057522599
|
|
NM_001148.6(ANK2):c.249G>A (p.Leu83=)
|
rs772876832
|
|
NM_001148.6(ANK2):c.250C>A (p.Leu84Met)
|
rs2153389915
|
|
NM_001148.6(ANK2):c.2514G>A (p.Thr838=)
|
|
|
NM_001148.6(ANK2):c.2514G>C (p.Thr838=)
|
rs895618053
|
|
NM_001148.6(ANK2):c.2527C>A (p.Leu843Ile)
|
rs2153794168
|
|
NM_001148.6(ANK2):c.2532T>A (p.Asp844Glu)
|
|
|
NM_001148.6(ANK2):c.2548+19del
|
|
|
NM_001148.6(ANK2):c.254G>A (p.Gly85Glu)
|
rs2098748989
|
|
NM_001148.6(ANK2):c.2579A>C (p.Glu860Ala)
|
rs2079826770
|
|
NM_001148.6(ANK2):c.2583C>T (p.Tyr861=)
|
rs529426179
|
|
NM_001148.6(ANK2):c.2588G>C (p.Arg863Thr)
|
rs1400444798
|
|
NM_001148.6(ANK2):c.2591C>T (p.Pro864Leu)
|
|
|
NM_001148.6(ANK2):c.2598C>G (p.Asp866Glu)
|
rs878854258
|
|
NM_001148.6(ANK2):c.2598C>T (p.Asp866=)
|
rs878854258
|
|
NM_001148.6(ANK2):c.2633G>A (p.Ser878Asn)
|
rs2079844190
|
|
NM_001148.6(ANK2):c.2637G>C (p.Gln879His)
|
rs1431478981
|
|
NM_001148.6(ANK2):c.2646T>C (p.Asp882=)
|
rs1203137650
|
|
NM_001148.6(ANK2):c.2663G>A (p.Arg888Gln)
|
|
|
NM_001148.6(ANK2):c.266C>A (p.Ser89Tyr)
|
|
|
NM_001148.6(ANK2):c.2694-16C>T
|
|
|
NM_001148.6(ANK2):c.271G>A (p.Asp91Asn)
|
|
|
NM_001148.6(ANK2):c.2724C>T (p.His908=)
|
rs576844483
|
|
NM_001148.6(ANK2):c.2739C>T (p.Ala913=)
|
|
|
NM_001148.6(ANK2):c.2754C>T (p.Asp918=)
|
rs1445606491
|
|
NM_001148.6(ANK2):c.2756G>T (p.Ser919Ile)
|
rs928589458
|
|
NM_001148.6(ANK2):c.2763G>C (p.Val921=)
|
|
|
NM_001148.6(ANK2):c.2768A>T (p.Asp923Val)
|
rs2083706279
|
|
NM_001148.6(ANK2):c.2770G>T (p.Asp924Tyr)
|
|
|
NM_001148.6(ANK2):c.277G>A (p.Ala93Thr)
|
rs2153390107
|
|
NM_001148.6(ANK2):c.2796+13T>C
|
rs2153836583
|
|
NM_001148.6(ANK2):c.2797-6G>T
|
|
|
NM_001148.6(ANK2):c.2804C>G (p.Thr935Ser)
|
rs2153837127
|
|
NM_001148.6(ANK2):c.2810C>T (p.Ala937Val)
|
rs2153837134
|
|
NM_001148.6(ANK2):c.2820A>G (p.Ala940=)
|
|
|
NM_001148.6(ANK2):c.2826G>T (p.Arg942Ser)
|
rs771898745
|
|
NM_001148.6(ANK2):c.2839C>T (p.Leu947=)
|
|
|
NM_001148.6(ANK2):c.2843G>A (p.Ser948Asn)
|
|
|
NM_001148.6(ANK2):c.285+15G>T
|
|
|
NM_001148.6(ANK2):c.2851A>G (p.Thr951Ala)
|
|
|
NM_001148.6(ANK2):c.286-15G>C
|
|
|
NM_001148.6(ANK2):c.2864A>G (p.Asp955Gly)
|
rs1290824364
|
|
NM_001148.6(ANK2):c.2901-11T>C
|
|
|
NM_001148.6(ANK2):c.2901-3del
|
rs762939884
|
|
NM_001148.6(ANK2):c.2901-7T>C
|
|
|
NM_001148.6(ANK2):c.2926G>A (p.Ala976Thr)
|
rs977347770
|
|
NM_001148.6(ANK2):c.2937T>C (p.Gly979=)
|
rs768997753
|
|
NM_001148.6(ANK2):c.2959A>G (p.Asn987Asp)
|
|
|
NM_001148.6(ANK2):c.2961T>C (p.Asn987=)
|
|
|
NM_001148.6(ANK2):c.2992T>G (p.Cys998Gly)
|
rs2092053203
|
|
NM_001148.6(ANK2):c.3005C>T (p.Thr1002Met)
|
|
|
NM_001148.6(ANK2):c.3031C>T (p.Arg1011Cys)
|
|
|
NM_001148.6(ANK2):c.3057A>G (p.Pro1019=)
|
|
|
NM_001148.6(ANK2):c.3058A>G (p.Met1020Val)
|
|
|
NM_001148.6(ANK2):c.3068G>A (p.Gly1023Glu)
|
rs1563809304
|
|
NM_001148.6(ANK2):c.3074G>T (p.Gly1025Val)
|
rs773532854
|
|
NM_001148.6(ANK2):c.3087C>T (p.Arg1029=)
|
|
|
NM_001148.6(ANK2):c.3090G>A (p.Leu1030=)
|
rs1487758535
|
|
NM_001148.6(ANK2):c.3097G>A (p.Val1033Ile)
|
rs2092088890
|
|
NM_001148.6(ANK2):c.3126-4T>A
|
|
|
NM_001148.6(ANK2):c.3147T>G (p.Ala1049=)
|
|
|
NM_001148.6(ANK2):c.3154C>T (p.Pro1052Ser)
|
|
|
NM_001148.6(ANK2):c.3155C>A (p.Pro1052Gln)
|
rs768427721
|
|
NM_001148.6(ANK2):c.3155C>G (p.Pro1052Arg)
|
rs768427721
|
|
NM_001148.6(ANK2):c.3158T>A (p.Leu1053His)
|
rs1486672262
|
|
NM_001148.6(ANK2):c.3178G>A (p.Val1060Ile)
|
|
|
NM_001148.6(ANK2):c.3182G>A (p.Ser1061Asn)
|
|
|
NM_001148.6(ANK2):c.3213C>G (p.Thr1071=)
|
rs1395480636
|
|
NM_001148.6(ANK2):c.3224+17del
|
rs1563823565
|
|
NM_001148.6(ANK2):c.3232A>G (p.Ile1078Val)
|
|
|
NM_001148.6(ANK2):c.3234C>A (p.Ile1078=)
|
rs776320443
|
|
NM_001148.6(ANK2):c.3238G>A (p.Glu1080Lys)
|
|
|
NM_001148.6(ANK2):c.324A>G (p.Gly108=)
|
|
|
NM_001148.6(ANK2):c.3255G>A (p.Ala1085=)
|
rs56173868
|
|
NM_001148.6(ANK2):c.3287T>C (p.Val1096Ala)
|
|
|
NM_001148.6(ANK2):c.3294C>T (p.Arg1098=)
|
rs1554513891
|
|
NM_001148.6(ANK2):c.3296G>A (p.Ser1099Asn)
|
|
|
NM_001148.6(ANK2):c.3371T>A (p.Met1124Lys)
|
rs2092851085
|
|
NM_001148.6(ANK2):c.3376G>A (p.Glu1126Lys)
|
|
|
NM_001148.6(ANK2):c.3379+18G>A
|
|
|
NM_001148.6(ANK2):c.3379+4C>A
|
rs752152002
|
|
NM_001148.6(ANK2):c.3380-8T>C
|
rs755517362
|
|
NM_001148.6(ANK2):c.3382C>G (p.Leu1128Val)
|
rs1163043823
|
|
NM_001148.6(ANK2):c.3393A>G (p.Pro1131=)
|
|
|
NM_001148.6(ANK2):c.341A>G (p.Lys114Arg)
|
rs1554262276
|
|
NM_001148.6(ANK2):c.3434G>A (p.Arg1145Gln)
|
rs2093465785
|
|
NM_001148.6(ANK2):c.3446A>G (p.Gln1149Arg)
|
rs1226848625
|
|
NM_001148.6(ANK2):c.3448T>C (p.Tyr1150His)
|
|
|
NM_001148.6(ANK2):c.3460G>C (p.Val1154Leu)
|
|
|
NM_001148.6(ANK2):c.3485A>G (p.Asn1162Ser)
|
|
|
NM_001148.6(ANK2):c.3506G>A (p.Gly1169Asp)
|
rs2153958712
|
|
NM_001148.6(ANK2):c.351T>G (p.Val117=)
|
rs2153405491
|
|
NM_001148.6(ANK2):c.3567C>G (p.Thr1189=)
|
rs1588489652
|
|
NM_001148.6(ANK2):c.3570G>A (p.Lys1190=)
|
rs2153959444
|
|
NM_001148.6(ANK2):c.3588G>A (p.Leu1196=)
|
|
|
NM_001148.6(ANK2):c.3591+13T>G
|
|
|
NM_001148.6(ANK2):c.3591+18G>A
|
|
|
NM_001148.6(ANK2):c.3592-12T>C
|
|
|
NM_001148.6(ANK2):c.3594T>C (p.Ala1198=)
|
|
|
NM_001148.6(ANK2):c.3604C>T (p.His1202Tyr)
|
|
|
NM_001148.6(ANK2):c.3628C>A (p.Leu1210Ile)
|
|
|
NM_001148.6(ANK2):c.3630A>G (p.Leu1210=)
|
rs997757383
|
|
NM_001148.6(ANK2):c.3636C>A (p.Asn1212Lys)
|
rs1488446208
|
|
NM_001148.6(ANK2):c.3640G>A (p.Ala1214Thr)
|
rs766019055
|
|
NM_001148.6(ANK2):c.3652C>G (p.Pro1218Ala)
|
rs754740031
|
|
NM_001148.6(ANK2):c.3655A>G (p.Ile1219Val)
|
|
|
NM_001148.6(ANK2):c.3707C>G (p.Thr1236Ser)
|
rs2093587081
|
|
NM_001148.6(ANK2):c.3721A>G (p.Lys1241Glu)
|
|
|
NM_001148.6(ANK2):c.3767C>A (p.Pro1256Gln)
|
rs764537997
|
|
NM_001148.6(ANK2):c.3770C>A (p.Thr1257Asn)
|
rs1412760053
|
|
NM_001148.6(ANK2):c.377A>C (p.Gln126Pro)
|
rs770384149
|
|
NM_001148.6(ANK2):c.3786C>T (p.Cys1262=)
|
rs1245737444
|
|
NM_001148.6(ANK2):c.3788G>C (p.Ser1263Thr)
|
|
|
NM_001148.6(ANK2):c.378G>C (p.Gln126His)
|
rs2098792890
|
|
NM_001148.6(ANK2):c.3797-10A>G
|
rs1379499964
|
|
NM_001148.6(ANK2):c.3797-7A>G
|
|
|
NM_001148.6(ANK2):c.379T>A (p.Ser127Thr)
|
rs778452771
|
|
NM_001148.6(ANK2):c.3825T>C (p.Asp1275=)
|
|
|
NM_001148.6(ANK2):c.3840G>C (p.Thr1280=)
|
rs369917208
|
|
NM_001148.6(ANK2):c.3848C>T (p.Thr1283Ile)
|
rs2093970685
|
|
NM_001148.6(ANK2):c.3858T>A (p.Asn1286Lys)
|
rs1563885033
|
|
NM_001148.6(ANK2):c.3863G>A (p.Cys1288Tyr)
|
|
|
NM_001148.6(ANK2):c.3893+18A>G
|
rs2153971958
|
|
NM_001148.6(ANK2):c.3894-16_3894-15del
|
rs781478156
|
|
NM_001148.6(ANK2):c.3894-3T>C
|
rs2094323232
|
|
NM_001148.6(ANK2):c.390C>T (p.Gly130=)
|
rs1585494394
|
|
NM_001148.6(ANK2):c.3914G>A (p.Arg1305Gln)
|
rs750510790
|
|
NM_001148.6(ANK2):c.3937T>C (p.Phe1313Leu)
|
|
|
NM_001148.6(ANK2):c.397C>T (p.Pro133Ser)
|
rs1275075425
|
|
NM_001148.6(ANK2):c.3982G>T (p.Ala1328Ser)
|
rs868750741
|
|
NM_001148.6(ANK2):c.399T>A (p.Pro133=)
|
rs2153534620
|
|
NM_001148.6(ANK2):c.4011T>A (p.His1337Gln)
|
rs1386325913
|
|
NM_001148.6(ANK2):c.4014C>T (p.Asp1338=)
|
rs2153979162
|
|
NM_001148.6(ANK2):c.4018A>G (p.Ile1340Val)
|
rs2094332851
|
|
NM_001148.6(ANK2):c.4055A>G (p.Asp1352Gly)
|
rs2153979257
|
|
NM_001148.6(ANK2):c.4056T>A (p.Asp1352Glu)
|
|
|
NM_001148.6(ANK2):c.4064A>G (p.Asp1355Gly)
|
rs2094335593
|
|
NM_001148.6(ANK2):c.4090T>G (p.Phe1364Val)
|
|
|
NM_001148.6(ANK2):c.4122+15dup
|
|
|
NM_001148.6(ANK2):c.4122+16T>C
|
|
|
NM_001148.6(ANK2):c.4122+17A>G
|
|
|
NM_001148.6(ANK2):c.4122+3A>G
|
|
|
NM_001148.6(ANK2):c.4143C>A (p.Ile1381=)
|
rs1197148822
|
|
NM_001148.6(ANK2):c.4147G>A (p.Val1383Ile)
|
rs764532145
|
|
NM_001148.6(ANK2):c.4147G>C (p.Val1383Leu)
|
rs764532145
|
|
NM_001148.6(ANK2):c.4156T>C (p.Phe1386Leu)
|
|
|
NM_001148.6(ANK2):c.4158C>T (p.Phe1386=)
|
rs567608851
|
|
NM_001148.6(ANK2):c.4181A>C (p.Lys1394Thr)
|
rs1588650941
|
|
NM_001148.6(ANK2):c.4213G>A (p.Ala1405Thr)
|
|
|
NM_001148.6(ANK2):c.4218C>T (p.Phe1406=)
|
rs777564125
|
|
NM_001148.6(ANK2):c.422A>G (p.Asn141Ser)
|
rs2153534680
|
|
NM_001148.6(ANK2):c.4230A>G (p.Arg1410=)
|
rs2153983651
|
|
NM_001148.6(ANK2):c.4231C>T (p.Leu1411Phe)
|
|
|
NM_001148.6(ANK2):c.4237C>T (p.Leu1413=)
|
rs878854259
|
|
NM_001148.6(ANK2):c.4239A>C (p.Leu1413=)
|
rs770858212
|
|
NM_001148.6(ANK2):c.4249-12T>G
|
|
|
NM_001148.6(ANK2):c.4249-7G>T
|
|
|
NM_001148.6(ANK2):c.4253G>A (p.Arg1418His)
|
|
|
NM_001148.6(ANK2):c.4260G>T (p.Thr1420=)
|
rs571896168
|
|
NM_001148.6(ANK2):c.4287A>C (p.Ser1429=)
|
rs72556369
|
|
NM_001148.6(ANK2):c.4295A>G (p.Lys1432Arg)
|
rs2094800597
|
|
NM_001148.6(ANK2):c.4299G>T (p.Glu1433Asp)
|
rs755562417
|
|
NM_001148.6(ANK2):c.42G>T (p.Glu14Asp)
|
|
|
NM_001148.6(ANK2):c.4316G>T (p.Gly1439Val)
|
rs758274171
|
|
NM_001148.6(ANK2):c.4323G>A (p.Val1441=)
|
|
|
NM_001148.6(ANK2):c.4329A>G (p.Gln1443=)
|
rs1588704832
|
|
NM_001148.6(ANK2):c.4335T>C (p.Ile1445=)
|
|
|
NM_001148.6(ANK2):c.4371+18A>G
|
|
|
NM_001148.6(ANK2):c.4371+5C>A
|
rs891690526
|
|
NM_001148.6(ANK2):c.4372-12T>C
|
|
|
NM_001148.6(ANK2):c.4372-18G>A
|
|
|
NM_001148.6(ANK2):c.4372-6G>T
|
rs760014047
|
|
NM_001148.6(ANK2):c.4386T>C (p.Asp1462=)
|
|
|
NM_001148.6(ANK2):c.438A>G (p.Val146=)
|
|
|
NM_001148.6(ANK2):c.4404+15G>A
|
|
|
NM_001148.6(ANK2):c.4413G>A (p.Met1471Ile)
|
|
|
NM_001148.6(ANK2):c.4426+15A>G
|
rs2095318118
|
|
NM_001148.6(ANK2):c.4427-13A>G
|
|
|
NM_001148.6(ANK2):c.4427-8C>T
|
|
|
NM_001148.6(ANK2):c.4428T>A (p.Asn1476Lys)
|
|
|
NM_001148.6(ANK2):c.4428T>C (p.Asn1476=)
|
|
|
NM_001148.6(ANK2):c.4436C>G (p.Thr1479Arg)
|
rs762685310
|
|
NM_001148.6(ANK2):c.4444A>C (p.Thr1482Pro)
|
rs1060501157
|
|
NM_001148.6(ANK2):c.4476T>A (p.Val1492=)
|
|
|
NM_001148.6(ANK2):c.4503G>A (p.Pro1501=)
|
|
|
NM_001148.6(ANK2):c.4519G>A (p.Val1507Ile)
|
|
|
NM_001148.6(ANK2):c.4538A>G (p.Asp1513Gly)
|
rs1588889129
|
|
NM_001148.6(ANK2):c.4541T>G (p.Leu1514Trp)
|
rs1197349405
|
|
NM_001148.6(ANK2):c.4555G>T (p.Ala1519Ser)
|
rs200920714
|
|
NM_001148.6(ANK2):c.4566C>A (p.Thr1522=)
|
|
|
NM_001148.6(ANK2):c.4573G>A (p.Val1525Met)
|
|
|
NM_001148.6(ANK2):c.4588G>C (p.Gly1530Arg)
|
rs1463969796
|
|
NM_001148.6(ANK2):c.4595T>G (p.Ile1532Ser)
|
|
|
NM_001148.6(ANK2):c.4618G>T (p.Ala1540Ser)
|
rs767390750
|
|
NM_001148.6(ANK2):c.4633C>A (p.Pro1545Thr)
|
rs760684730
|
|
NM_001148.6(ANK2):c.4648G>C (p.Glu1550Gln)
|
rs2154016099
|
|
NM_001148.6(ANK2):c.464A>C (p.Asn155Thr)
|
rs377660236
|
|
NM_001148.6(ANK2):c.4651A>G (p.Ile1551Val)
|
|
|
NM_001148.6(ANK2):c.4658A>G (p.Glu1553Gly)
|
|
|
NM_001148.6(ANK2):c.4662A>C (p.Arg1554Ser)
|
|
|
NM_001148.6(ANK2):c.4673A>G (p.Asp1558Gly)
|
rs1554550305
|
|
NM_001148.6(ANK2):c.4704T>G (p.Ser1568Arg)
|
|
|
NM_001148.6(ANK2):c.4709C>T (p.Thr1570Ile)
|
rs2154016319
|
|
NM_001148.6(ANK2):c.4716A>C (p.Thr1572=)
|
rs199658305
|
|
NM_001148.6(ANK2):c.471C>T (p.Ser157=)
|
rs1278047767
|
|
NM_001148.6(ANK2):c.4729A>G (p.Ser1577Gly)
|
rs1554550403
|
|
NM_001148.6(ANK2):c.4732G>A (p.Val1578Met)
|
rs1554550420
|
|
NM_001148.6(ANK2):c.4744C>A (p.Arg1582=)
|
rs35249198
|
|
NM_001148.6(ANK2):c.4763T>G (p.Val1588Gly)
|
|
|
NM_001148.6(ANK2):c.4769A>C (p.Glu1590Ala)
|
|
|
NM_001148.6(ANK2):c.4773A>G (p.Glu1591=)
|
rs2154016902
|
|
NM_001148.6(ANK2):c.4782T>A (p.Ile1594=)
|
|
|
NM_001148.6(ANK2):c.4799T>C (p.Ile1600Thr)
|
|
|
NM_001148.6(ANK2):c.4811G>A (p.Arg1604Lys)
|
rs776426910
|
|
NM_001148.6(ANK2):c.4820C>T (p.Ala1607Val)
|
rs761919137
|
|
NM_001148.6(ANK2):c.483+16C>T
|
|
|
NM_001148.6(ANK2):c.483+1G>A
|
|
|
NM_001148.6(ANK2):c.484-4C>T
|
|
|
NM_001148.6(ANK2):c.4840T>A (p.Tyr1614Asn)
|
rs1380399876
|
|
NM_001148.6(ANK2):c.4890G>T (p.Glu1630Asp)
|
rs1588896415
|
|
NM_001148.6(ANK2):c.48C>T (p.Phe16=)
|
|
|
NM_001148.6(ANK2):c.4900A>G (p.Thr1634Ala)
|
|
|
NM_001148.6(ANK2):c.4919T>C (p.Leu1640Pro)
|
|
|
NM_001148.6(ANK2):c.4927G>T (p.Asp1643Tyr)
|
rs1481921543
|
|
NM_001148.6(ANK2):c.4941T>C (p.Cys1647=)
|
rs1588897925
|
|
NM_001148.6(ANK2):c.4952C>T (p.Pro1651Leu)
|
|
|
NM_001148.6(ANK2):c.4958A>T (p.Glu1653Val)
|
|
|
NM_001148.6(ANK2):c.4959G>C (p.Glu1653Asp)
|
rs1268423479
|
|
NM_001148.6(ANK2):c.4981A>G (p.Lys1661Glu)
|
rs776676676
|
|
NM_001148.6(ANK2):c.4983G>T (p.Lys1661Asn)
|
rs908995394
|
|
NM_001148.6(ANK2):c.4984G>A (p.Ala1662Thr)
|
rs1230654392
|
|
NM_001148.6(ANK2):c.4988G>A (p.Gly1663Glu)
|
rs1060501158
|
|
NM_001148.6(ANK2):c.4989G>T (p.Gly1663=)
|
|
|
NM_001148.6(ANK2):c.4997G>A (p.Cys1666Tyr)
|
|
|
NM_001148.6(ANK2):c.4998T>C (p.Cys1666=)
|
|
|
NM_001148.6(ANK2):c.5001G>A (p.Glu1667=)
|
rs1166567955
|
|
NM_001148.6(ANK2):c.5008G>A (p.Ala1670Thr)
|
|
|
NM_001148.6(ANK2):c.5017A>G (p.Arg1673Gly)
|
rs886038862
|
|
NM_001148.6(ANK2):c.5020A>G (p.Ser1674Gly)
|
rs2095555189
|
|
NM_001148.6(ANK2):c.5021G>A (p.Ser1674Asn)
|
|
|
NM_001148.6(ANK2):c.5031G>T (p.Lys1677Asn)
|
|
|
NM_001148.6(ANK2):c.5047C>A (p.Pro1683Thr)
|
rs756720499
|
|
NM_001148.6(ANK2):c.5060C>A (p.Thr1687Lys)
|
rs900402464
|
|
NM_001148.6(ANK2):c.5064G>A (p.Gln1688=)
|
|
|
NM_001148.6(ANK2):c.5077C>A (p.Gln1693Lys)
|
|
|
NM_001148.6(ANK2):c.5092T>A (p.Leu1698Met)
|
rs1588902519
|
|
NM_001148.6(ANK2):c.5094G>A (p.Leu1698=)
|
|
|
NM_001148.6(ANK2):c.5095G>A (p.Gly1699Arg)
|
rs2154018839
|
|
NM_001148.6(ANK2):c.5136G>C (p.Gln1712His)
|
rs773125026
|
|
NM_001148.6(ANK2):c.5173A>G (p.Lys1725Glu)
|
|
|
NM_001148.6(ANK2):c.5182C>T (p.Leu1728Phe)
|
|
|
NM_001148.6(ANK2):c.519A>G (p.Gln173=)
|
|
|
NM_001148.6(ANK2):c.5201A>G (p.Glu1734Gly)
|
rs2095565316
|
|
NM_001148.6(ANK2):c.5205G>A (p.Glu1735=)
|
|
|
NM_001148.6(ANK2):c.5213_5215del (p.Gly1738del)
|
rs2095566161
|
|
NM_001148.6(ANK2):c.5227T>G (p.Leu1743Val)
|
|
|
NM_001148.6(ANK2):c.5231C>A (p.Ala1744Asp)
|
rs147706514
|
|
NM_001148.6(ANK2):c.5234C>G (p.Pro1745Arg)
|
rs751038588
|
|
NM_001148.6(ANK2):c.5235T>C (p.Pro1745=)
|
rs754587486
|
|
NM_001148.6(ANK2):c.5283T>C (p.Thr1761=)
|
|
|
NM_001148.6(ANK2):c.5305A>G (p.Lys1769Glu)
|
rs1352494306
|
|
NM_001148.6(ANK2):c.534G>A (p.Ala178=)
|
|
|
NM_001148.6(ANK2):c.534G>T (p.Ala178=)
|
|
|
NM_001148.6(ANK2):c.5351G>A (p.Arg1784Gln)
|
rs777085522
|
|
NM_001148.6(ANK2):c.5351G>C (p.Arg1784Pro)
|
rs777085522
|
|
NM_001148.6(ANK2):c.5365A>C (p.Ile1789Leu)
|
rs527462024
|
|
NM_001148.6(ANK2):c.5382G>C (p.Lys1794Asn)
|
|
|
NM_001148.6(ANK2):c.5390T>C (p.Val1797Ala)
|
rs2095576901
|
|
NM_001148.6(ANK2):c.5391G>A (p.Val1797=)
|
rs2154019571
|
|
NM_001148.6(ANK2):c.5406C>T (p.Thr1802=)
|
|
|
NM_001148.6(ANK2):c.541A>G (p.Ile181Val)
|
rs758739035
|
|
NM_001148.6(ANK2):c.5424T>A (p.Ala1808=)
|
|
|
NM_001148.6(ANK2):c.5431C>A (p.Pro1811Thr)
|
rs200645469
|
|
NM_001148.6(ANK2):c.5431C>T (p.Pro1811Ser)
|
rs200645469
|
|
NM_001148.6(ANK2):c.5454T>G (p.His1818Gln)
|
rs2154019711
|
|
NM_001148.6(ANK2):c.5461G>A (p.Gly1821Arg)
|
rs2095583147
|
|
NM_001148.6(ANK2):c.5473C>T (p.Pro1825Ser)
|
|
|
NM_001148.6(ANK2):c.5484A>G (p.Glu1828=)
|
|
|
NM_001148.6(ANK2):c.5490C>T (p.His1830=)
|
|
|
NM_001148.6(ANK2):c.5497C>G (p.Leu1833Val)
|
rs1194139877
|
|
NM_001148.6(ANK2):c.5497C>T (p.Leu1833Phe)
|
rs1194139877
|
|
NM_001148.6(ANK2):c.5517T>A (p.Thr1839=)
|
|
|
NM_001148.6(ANK2):c.552G>T (p.Glu184Asp)
|
|
|
NM_001148.6(ANK2):c.5541A>G (p.Pro1847=)
|
rs1300939911
|
|
NM_001148.6(ANK2):c.5542T>G (p.Ser1848Ala)
|
rs2095590693
|
|
NM_001148.6(ANK2):c.5552C>T (p.Thr1851Ile)
|
|
|
NM_001148.6(ANK2):c.5571_5642del (p.Ala1861_Ser1884del)
|
rs2095591008
|
|
NM_001148.6(ANK2):c.5581G>A (p.Ala1861Thr)
|
rs2095594880
|
|
NM_001148.6(ANK2):c.5582C>T (p.Ala1861Val)
|
rs1588916046
|
|
NM_001148.6(ANK2):c.5603C>G (p.Pro1868Arg)
|
|
|
NM_001148.6(ANK2):c.5604T>G (p.Pro1868=)
|
|
|
NM_001148.6(ANK2):c.5606C>T (p.Ala1869Val)
|
|
|
NM_001148.6(ANK2):c.5609C>T (p.Ser1870Leu)
|
rs869025360
|
|
NM_001148.6(ANK2):c.5610ATC[1] (p.Ser1873del)
|
|
|
NM_001148.6(ANK2):c.5613A>G (p.Ser1871=)
|
rs908056052
|
|
NM_001148.6(ANK2):c.5620A>G (p.Lys1874Glu)
|
rs2154020296
|
|
NM_001148.6(ANK2):c.5626G>A (p.Glu1876Lys)
|
rs1554553071
|
|
NM_001148.6(ANK2):c.5628G>A (p.Glu1876=)
|
|
|
NM_001148.6(ANK2):c.5631A>G (p.Lys1877=)
|
|
|
NM_001148.6(ANK2):c.5662G>A (p.Glu1888Lys)
|
|
|
NM_001148.6(ANK2):c.5666G>A (p.Arg1889Lys)
|
|
|
NM_001148.6(ANK2):c.5669A>C (p.His1890Pro)
|
|
|
NM_001148.6(ANK2):c.5677G>T (p.Val1893Leu)
|
rs2095603402
|
|
NM_001148.6(ANK2):c.5723G>A (p.Gly1908Asp)
|
|
|
NM_001148.6(ANK2):c.5726A>G (p.Lys1909Arg)
|
|
|
NM_001148.6(ANK2):c.573G>A (p.Val191=)
|
|
|
NM_001148.6(ANK2):c.5744C>T (p.Pro1915Leu)
|
|
|
NM_001148.6(ANK2):c.5748A>G (p.Val1916=)
|
rs1554553562
|
|
NM_001148.6(ANK2):c.5777C>A (p.Pro1926Gln)
|
|
|
NM_001148.6(ANK2):c.5791G>A (p.Gly1931Arg)
|
|
|
NM_001148.6(ANK2):c.5807G>A (p.Arg1936His)
|
|
|
NM_001148.6(ANK2):c.5807G>T (p.Arg1936Leu)
|
|
|
NM_001148.6(ANK2):c.5815G>C (p.Val1939Leu)
|
rs759195568
|
|
NM_001148.6(ANK2):c.5830A>C (p.Arg1944=)
|
|
|
NM_001148.6(ANK2):c.5834C>T (p.Thr1945Met)
|
|
|
NM_001148.6(ANK2):c.5835G>A (p.Thr1945=)
|
|
|
NM_001148.6(ANK2):c.5844C>T (p.His1948=)
|
rs780648194
|
|
NM_001148.6(ANK2):c.5850T>C (p.Pro1950=)
|
|
|
NM_001148.6(ANK2):c.5858C>T (p.Thr1953Ile)
|
rs2154020988
|
|
NM_001148.6(ANK2):c.5887G>T (p.Val1963Leu)
|
|
|
NM_001148.6(ANK2):c.5893C>T (p.Pro1965Ser)
|
rs2095620859
|
|
NM_001148.6(ANK2):c.5906C>T (p.Thr1969Ile)
|
|
|
NM_001148.6(ANK2):c.5920C>A (p.Pro1974Thr)
|
rs1320080856
|
|
NM_001148.6(ANK2):c.5925A>G (p.Val1975=)
|
|
|
NM_001148.6(ANK2):c.5928C>T (p.Ser1976=)
|
rs2154021134
|
|
NM_001148.6(ANK2):c.5943A>G (p.Thr1981=)
|
rs1588929237
|
|
NM_001148.6(ANK2):c.5962A>C (p.Met1988Leu)
|
|
|
NM_001148.6(ANK2):c.5971C>T (p.Arg1991Trp)
|
rs1442984107
|
|
NM_001148.6(ANK2):c.5972G>A (p.Arg1991Gln)
|
rs755548985
|
|
NM_001148.6(ANK2):c.5972G>C (p.Arg1991Pro)
|
rs755548985
|
|
NM_001148.6(ANK2):c.5972G>T (p.Arg1991Leu)
|
rs755548985
|
|
NM_001148.6(ANK2):c.5984A>G (p.Lys1995Arg)
|
|
|
NM_001148.6(ANK2):c.598G>A (p.Ala200Thr)
|
|
|
NM_001148.6(ANK2):c.6011C>G (p.Ser2004Cys)
|
|
|
NM_001148.6(ANK2):c.6015A>G (p.Lys2005=)
|
|
|
NM_001148.6(ANK2):c.6016C>T (p.His2006Tyr)
|
|
|
NM_001148.6(ANK2):c.6041A>C (p.Lys2014Thr)
|
|
|
NM_001148.6(ANK2):c.6047C>T (p.Ala2016Val)
|
rs769840245
|
|
NM_001148.6(ANK2):c.6062C>T (p.Pro2021Leu)
|
|
|
NM_001148.6(ANK2):c.6083G>A (p.Arg2028Gln)
|
|
|
NM_001148.6(ANK2):c.6083G>T (p.Arg2028Leu)
|
|
|
NM_001148.6(ANK2):c.6084G>T (p.Arg2028=)
|
|
|
NM_001148.6(ANK2):c.6085G>C (p.Val2029Leu)
|
rs1403186964
|
|
NM_001148.6(ANK2):c.6087A>G (p.Val2029=)
|
rs1588934579
|
|
NM_001148.6(ANK2):c.6088G>A (p.Glu2030Lys)
|
rs1226590997
|
|
NM_001148.6(ANK2):c.6134C>T (p.Thr2045Ile)
|
rs1014242925
|
|
NM_001148.6(ANK2):c.6141T>G (p.Asn2047Lys)
|
|
|
NM_001148.6(ANK2):c.6142C>G (p.Gln2048Glu)
|
|
|
NM_001148.6(ANK2):c.6148A>G (p.Ile2050Val)
|
|
|
NM_001148.6(ANK2):c.614C>A (p.Thr205Asn)
|
rs1060501163
|
|
NM_001148.6(ANK2):c.6158G>C (p.Gly2053Ala)
|
rs2154021788
|
|
NM_001148.6(ANK2):c.6171G>A (p.Pro2057=)
|
|
|
NM_001148.6(ANK2):c.6177G>C (p.Thr2059=)
|
rs891749744
|
|
NM_001148.6(ANK2):c.6182C>T (p.Thr2061Ile)
|
|
|
NM_001148.6(ANK2):c.618A>G (p.Lys206=)
|
rs957048917
|
|
NM_001148.6(ANK2):c.6213C>G (p.Ser2071=)
|
rs777757295
|
|
NM_001148.6(ANK2):c.6213C>T (p.Ser2071=)
|
|
|
NM_001148.6(ANK2):c.624C>T (p.Ala208=)
|
|
|
NM_001148.6(ANK2):c.625G>T (p.Ala209Ser)
|
rs1060501154
|
|
NM_001148.6(ANK2):c.6264C>T (p.Leu2088=)
|
rs201663032
|
|
NM_001148.6(ANK2):c.6267C>A (p.Ser2089Arg)
|
rs2095651333
|
|
NM_001148.6(ANK2):c.6273A>G (p.Lys2091=)
|
rs2154022097
|
|
NM_001148.6(ANK2):c.6286G>A (p.Val2096Ile)
|
rs781709192
|
|
NM_001148.6(ANK2):c.6304G>A (p.Glu2102Lys)
|
|
|
NM_001148.6(ANK2):c.6311G>A (p.Ser2104Asn)
|
|
|
NM_001148.6(ANK2):c.6316A>G (p.Arg2106Gly)
|
rs1004588860
|
|
NM_001148.6(ANK2):c.6320A>G (p.Glu2107Gly)
|
rs2095653777
|
|
NM_001148.6(ANK2):c.6331C>T (p.Pro2111Ser)
|
|
|
NM_001148.6(ANK2):c.6352G>A (p.Glu2118Lys)
|
|
|
NM_001148.6(ANK2):c.6371T>C (p.Leu2124Pro)
|
rs2154022300
|
|
NM_001148.6(ANK2):c.6372A>G (p.Leu2124=)
|
|
|
NM_001148.6(ANK2):c.6374A>C (p.Gln2125Pro)
|
rs780418271
|
|
NM_001148.6(ANK2):c.6377T>A (p.Ile2126Asn)
|
|
|
NM_001148.6(ANK2):c.6399C>T (p.Ser2133=)
|
rs2154022373
|
|
NM_001148.6(ANK2):c.639G>T (p.Gln213His)
|
|
|
NM_001148.6(ANK2):c.63G>A (p.Gln21=)
|
rs1060504155
|
|
NM_001148.6(ANK2):c.6402T>C (p.Thr2134=)
|
|
|
NM_001148.6(ANK2):c.6442G>T (p.Asp2148Tyr)
|
rs1301230685
|
|
NM_001148.6(ANK2):c.6450C>T (p.Tyr2150=)
|
|
|
NM_001148.6(ANK2):c.6453A>G (p.Gln2151=)
|
|
|
NM_001148.6(ANK2):c.6469G>A (p.Glu2157Lys)
|
rs763973483
|
|
NM_001148.6(ANK2):c.6504A>G (p.Gln2168=)
|
rs2154022589
|
|
NM_001148.6(ANK2):c.6516T>G (p.Ser2172Arg)
|
rs1588946738
|
|
NM_001148.6(ANK2):c.6526ACA[1] (p.Thr2177del)
|
rs749429192
|
|
NM_001148.6(ANK2):c.6531A>G (p.Thr2177=)
|
rs747273242
|
|
NM_001148.6(ANK2):c.6547A>G (p.Met2183Val)
|
rs773708100
|
|
NM_001148.6(ANK2):c.6553G>A (p.Asp2185Asn)
|
rs2154022736
|
|
NM_001148.6(ANK2):c.6554A>G (p.Asp2185Gly)
|
|
|
NM_001148.6(ANK2):c.6567A>G (p.Pro2189=)
|
rs916751004
|
|
NM_001148.6(ANK2):c.6595G>C (p.Asp2199His)
|
|
|
NM_001148.6(ANK2):c.6626G>A (p.Gly2209Glu)
|
rs1564011730
|
|
NM_001148.6(ANK2):c.6626G>T (p.Gly2209Val)
|
rs1564011730
|
|
NM_001148.6(ANK2):c.6628G>A (p.Val2210Ile)
|
|
|
NM_001148.6(ANK2):c.6655A>T (p.Met2219Leu)
|
|
|
NM_001148.6(ANK2):c.6663G>A (p.Gly2221=)
|
|
|
NM_001148.6(ANK2):c.6668C>T (p.Pro2223Leu)
|
|
|
NM_001148.6(ANK2):c.669+11C>A
|
|
|
NM_001148.6(ANK2):c.669+16C>G
|
rs1264807527
|
|
NM_001148.6(ANK2):c.669+18_669+19del
|
|
|
NM_001148.6(ANK2):c.669+19A>G
|
|
|
NM_001148.6(ANK2):c.6693T>C (p.Tyr2231=)
|
rs2154023129
|
|
NM_001148.6(ANK2):c.670-12_670-10del
|
|
|
NM_001148.6(ANK2):c.670-7G>A
|
rs2153558579
|
|
NM_001148.6(ANK2):c.6704G>C (p.Gly2235Ala)
|
|
|
NM_001148.6(ANK2):c.6709G>C (p.Ala2237Pro)
|
rs2154023155
|
|
NM_001148.6(ANK2):c.670A>C (p.Met224Leu)
|
rs1261818090
|
|
NM_001148.6(ANK2):c.6711A>G (p.Ala2237=)
|
rs1040262969
|
|
NM_001148.6(ANK2):c.6718C>A (p.Pro2240Thr)
|
rs752841046
|
|
NM_001148.6(ANK2):c.6719C>G (p.Pro2240Arg)
|
rs2095683457
|
|
NM_001148.6(ANK2):c.6730C>A (p.Pro2244Thr)
|
|
|
NM_001148.6(ANK2):c.6744T>C (p.Ser2248=)
|
rs529758377
|
|
NM_001148.6(ANK2):c.6751C>G (p.Pro2251Ala)
|
|
|
NM_001148.6(ANK2):c.6792C>T (p.Ser2264=)
|
|
|
NM_001148.6(ANK2):c.6812C>T (p.Thr2271Ile)
|
|
|
NM_001148.6(ANK2):c.6824C>T (p.Ser2275Leu)
|
|
|
NM_001148.6(ANK2):c.6887T>A (p.Val2296Asp)
|
|
|
NM_001148.6(ANK2):c.6895G>A (p.Asp2299Asn)
|
rs537233629
|
|
NM_001148.6(ANK2):c.6902A>T (p.Glu2301Val)
|
|
|
NM_001148.6(ANK2):c.693+4C>T
|
rs2099393751
|
|
NM_001148.6(ANK2):c.6970C>G (p.Gln2324Glu)
|
rs758842014
|
|
NM_001148.6(ANK2):c.6974A>G (p.Asp2325Gly)
|
|
|
NM_001148.6(ANK2):c.6988A>G (p.Ser2330Gly)
|
rs2154023748
|
|
NM_001148.6(ANK2):c.6989G>A (p.Ser2330Asn)
|
rs1060501159
|
|
NM_001148.6(ANK2):c.6996T>A (p.Ser2332Arg)
|
rs2154023756
|
|
NM_001148.6(ANK2):c.6996T>C (p.Ser2332=)
|
rs2154023756
|
|
NM_001148.6(ANK2):c.6G>A (p.Met2Ile)
|
|
|
NM_001148.6(ANK2):c.7002A>G (p.Ala2334=)
|
|
|
NM_001148.6(ANK2):c.7014G>A (p.Glu2338=)
|
rs771964590
|
|
NM_001148.6(ANK2):c.7029G>C (p.Leu2343=)
|
rs777427207
|
|
NM_001148.6(ANK2):c.7039G>A (p.Ala2347Thr)
|
|
|
NM_001148.6(ANK2):c.7042G>A (p.Ala2348Thr)
|
rs1466354397
|
|
NM_001148.6(ANK2):c.7054_7059del (p.Gly2352_Gln2353del)
|
rs774514148
|
|
NM_001148.6(ANK2):c.705C>G (p.Thr235=)
|
|
|
NM_001148.6(ANK2):c.7100G>A (p.Ser2367Asn)
|
|
|
NM_001148.6(ANK2):c.7102G>A (p.Glu2368Lys)
|
rs2095714626
|
|
NM_001148.6(ANK2):c.7103A>G (p.Glu2368Gly)
|
rs2154024009
|
|
NM_001148.6(ANK2):c.7104G>A (p.Glu2368=)
|
rs2095714803
|
|
NM_001148.6(ANK2):c.7106T>G (p.Val2369Gly)
|
rs28377576
|
|
NM_001148.6(ANK2):c.7109A>G (p.Gln2370Arg)
|
|
|
NM_001148.6(ANK2):c.7111G>A (p.Glu2371Lys)
|
rs1033059668
|
|
NM_001148.6(ANK2):c.7148C>G (p.Pro2383Arg)
|
rs35960628
|
|
NM_001148.6(ANK2):c.7159G>T (p.Ala2387Ser)
|
rs781642042
|
|
NM_001148.6(ANK2):c.7165G>A (p.Val2389Ile)
|
rs1401163801
|
|
NM_001148.6(ANK2):c.7172C>G (p.Thr2391Arg)
|
|
|
NM_001148.6(ANK2):c.7181G>T (p.Gly2394Val)
|
rs1564019461
|
|
NM_001148.6(ANK2):c.7182A>G (p.Gly2394=)
|
|
|
NM_001148.6(ANK2):c.7195C>T (p.Pro2399Ser)
|
|
|
NM_001148.6(ANK2):c.7216C>T (p.Pro2406Ser)
|
rs1430842551
|
|
NM_001148.6(ANK2):c.7217C>T (p.Pro2406Leu)
|
|
|
NM_001148.6(ANK2):c.7221A>C (p.Gln2407His)
|
rs776036456
|
|
NM_001148.6(ANK2):c.7228G>C (p.Glu2410Gln)
|
|
|
NM_001148.6(ANK2):c.7236A>T (p.Ala2412=)
|
rs1394535709
|
|
NM_001148.6(ANK2):c.7246C>G (p.Arg2416Gly)
|
rs1309568447
|
|
NM_001148.6(ANK2):c.7284A>C (p.Ser2428=)
|
|
|
NM_001148.6(ANK2):c.7289C>T (p.Ala2430Val)
|
|
|
NM_001148.6(ANK2):c.7303G>A (p.Asp2435Asn)
|
rs2095735927
|
|
NM_001148.6(ANK2):c.730G>A (p.Gly244Arg)
|
|
|
NM_001148.6(ANK2):c.7311G>C (p.Leu2437=)
|
rs2095736787
|
|
NM_001148.6(ANK2):c.7334A>G (p.Asp2445Gly)
|
rs766060431
|
|
NM_001148.6(ANK2):c.7336A>G (p.Asn2446Asp)
|
|
|
NM_001148.6(ANK2):c.7344A>G (p.Ser2448=)
|
|
|
NM_001148.6(ANK2):c.7346A>G (p.His2449Arg)
|
rs2095739184
|
|
NM_001148.6(ANK2):c.7347C>G (p.His2449Gln)
|
|
|
NM_001148.6(ANK2):c.7388C>T (p.Ser2463Phe)
|
rs2095742714
|
|
NM_001148.6(ANK2):c.7405C>T (p.Leu2469=)
|
rs2154024675
|
|
NM_001148.6(ANK2):c.7472C>A (p.Ala2491Glu)
|
|
|
NM_001148.6(ANK2):c.7546A>C (p.Ser2516Arg)
|
rs771826064
|
|
NM_001148.6(ANK2):c.7553A>G (p.Glu2518Gly)
|
rs926379811
|
|
NM_001148.6(ANK2):c.7559A>T (p.Asp2520Val)
|
rs768362982
|
|
NM_001148.6(ANK2):c.7563T>C (p.Ser2521=)
|
|
|
NM_001148.6(ANK2):c.7581C>T (p.Leu2527=)
|
rs376323883
|
|
NM_001148.6(ANK2):c.7582A>G (p.Met2528Val)
|
|
|
NM_001148.6(ANK2):c.7589G>A (p.Ser2530Asn)
|
|
|
NM_001148.6(ANK2):c.7604C>T (p.Pro2535Leu)
|
rs2095761353
|
|
NM_001148.6(ANK2):c.7605C>T (p.Pro2535=)
|
|
|
NM_001148.6(ANK2):c.7616A>G (p.Asp2539Gly)
|
|
|
NM_001148.6(ANK2):c.7616A>T (p.Asp2539Val)
|
|
|
NM_001148.6(ANK2):c.7617C>T (p.Asp2539=)
|
|
|
NM_001148.6(ANK2):c.7648G>A (p.Val2550Ile)
|
|
|
NM_001148.6(ANK2):c.7650T>G (p.Val2550=)
|
rs1060504156
|
|
NM_001148.6(ANK2):c.7669G>A (p.Val2557Ile)
|
|
|
NM_001148.6(ANK2):c.7679C>G (p.Pro2560Arg)
|
rs766400799
|
|
NM_001148.6(ANK2):c.7681A>G (p.Lys2561Glu)
|
|
|
NM_001148.6(ANK2):c.7685C>T (p.Pro2562Leu)
|
rs886039184
|
|
NM_001148.6(ANK2):c.7703G>A (p.Cys2568Tyr)
|
|
|
NM_001148.6(ANK2):c.7706_7707inv (p.Ala2569Val)
|
|
|
NM_001148.6(ANK2):c.7714G>A (p.Asp2572Asn)
|
rs1198252206
|
|
NM_001148.6(ANK2):c.7802_7807del (p.Leu2601_Glu2602del)
|
|
|
NM_001148.6(ANK2):c.7805A>G (p.Glu2602Gly)
|
|
|
NM_001148.6(ANK2):c.7807C>G (p.Gln2603Glu)
|
|
|
NM_001148.6(ANK2):c.7809A>C (p.Gln2603His)
|
rs1554561571
|
|
NM_001148.6(ANK2):c.781T>C (p.Phe261Leu)
|
rs1563105054
|
|
NM_001148.6(ANK2):c.7823A>G (p.Lys2608Arg)
|
rs2095781039
|
|
NM_001148.6(ANK2):c.7828G>A (p.Asp2610Asn)
|
rs767768290
|
|
NM_001148.6(ANK2):c.7828G>C (p.Asp2610His)
|
rs767768290
|
|
NM_001148.6(ANK2):c.7836A>G (p.Lys2612=)
|
rs1060504153
|
|
NM_001148.6(ANK2):c.7850A>T (p.Gln2617Leu)
|
|
|
NM_001148.6(ANK2):c.7854A>G (p.Glu2618=)
|
|
|
NM_001148.6(ANK2):c.7860TTC[1] (p.Ser2624del)
|
rs772341643
|
|
NM_001148.6(ANK2):c.7899T>C (p.Asp2633=)
|
rs1159096479
|
|
NM_001148.6(ANK2):c.7900G>A (p.Val2634Met)
|
|
|
NM_001148.6(ANK2):c.7902G>T (p.Val2634=)
|
rs150878494
|
|
NM_001148.6(ANK2):c.792+10G>A
|
rs878854260
|
|
NM_001148.6(ANK2):c.792+6G>A
|
rs900693189
|
|
NM_001148.6(ANK2):c.792+7A>T
|
rs2039228785
|
|
NM_001148.6(ANK2):c.793-13T>G
|
|
|
NM_001148.6(ANK2):c.793-17G>A
|
|
|
NM_001148.6(ANK2):c.7932G>T (p.Glu2644Asp)
|
rs201645638
|
|
NM_001148.6(ANK2):c.7935T>A (p.Asp2645Glu)
|
|
|
NM_001148.6(ANK2):c.7947C>T (p.Val2649=)
|
|
|
NM_001148.6(ANK2):c.7961C>T (p.Thr2654Ile)
|
rs2154025865
|
|
NM_001148.6(ANK2):c.7971C>G (p.Ser2657Arg)
|
rs146085234
|
|
NM_001148.6(ANK2):c.8020A>G (p.Lys2674Glu)
|
|
|
NM_001148.6(ANK2):c.8027G>A (p.Gly2676Asp)
|
rs752323136
|
|
NM_001148.6(ANK2):c.8031T>A (p.Ala2677=)
|
|
|
NM_001148.6(ANK2):c.8040C>A (p.Gly2680=)
|
|
|
NM_001148.6(ANK2):c.8047C>A (p.Pro2683Thr)
|
|
|
NM_001148.6(ANK2):c.8057T>A (p.Val2686Glu)
|
rs56095304
|
|
NM_001148.6(ANK2):c.8060T>C (p.Ile2687Thr)
|
|
|
NM_001148.6(ANK2):c.8082A>G (p.Pro2694=)
|
rs1369104507
|
|
NM_001148.6(ANK2):c.8094C>G (p.Ser2698Arg)
|
rs768800173
|
|
NM_001148.6(ANK2):c.8098G>A (p.Asp2700Asn)
|
rs1275616940
|
|
NM_001148.6(ANK2):c.8105A>T (p.Asn2702Ile)
|
rs748404965
|
|
NM_001148.6(ANK2):c.8127A>G (p.Gln2709=)
|
|
|
NM_001148.6(ANK2):c.8133G>A (p.Gln2711=)
|
|
|
NM_001148.6(ANK2):c.8140G>A (p.Val2714Ile)
|
rs753223319
|
|
NM_001148.6(ANK2):c.8140G>C (p.Val2714Leu)
|
|
|
NM_001148.6(ANK2):c.8150A>T (p.Gln2717Leu)
|
|
|
NM_001148.6(ANK2):c.8165T>A (p.Met2722Lys)
|
|
|
NM_001148.6(ANK2):c.8195A>T (p.Lys2732Ile)
|
|
|
NM_001148.6(ANK2):c.8247T>C (p.Ala2749=)
|
rs772870512
|
|
NM_001148.6(ANK2):c.8254A>G (p.Thr2752Ala)
|
rs558793790
|
|
NM_001148.6(ANK2):c.8263G>A (p.Glu2755Lys)
|
rs2095817122
|
|
NM_001148.6(ANK2):c.8266G>T (p.Asp2756Tyr)
|
|
|
NM_001148.6(ANK2):c.8277T>C (p.Tyr2759=)
|
rs2154026618
|
|
NM_001148.6(ANK2):c.828A>G (p.Arg276=)
|
rs2153573581
|
|
NM_001148.6(ANK2):c.8298T>C (p.Thr2766=)
|
rs1272772997
|
|
NM_001148.6(ANK2):c.8326_8327delinsTT (p.Gly2776Leu)
|
|
|
NM_001148.6(ANK2):c.8362C>T (p.Pro2788Ser)
|
rs1195125634
|
|
NM_001148.6(ANK2):c.8365G>A (p.Val2789Ile)
|
rs2095826054
|
|
NM_001148.6(ANK2):c.8377C>A (p.Leu2793Ile)
|
rs774268252
|
|
NM_001148.6(ANK2):c.8378T>C (p.Leu2793Pro)
|
rs1019663457
|
|
NM_001148.6(ANK2):c.8381A>G (p.Gln2794Arg)
|
rs528909081
|
|
NM_001148.6(ANK2):c.8397T>C (p.Asp2799=)
|
rs779002619
|
|
NM_001148.6(ANK2):c.84+10C>T
|
|
|
NM_001148.6(ANK2):c.84+8G>A
|
rs766430801
|
|
NM_001148.6(ANK2):c.8403T>G (p.Val2801=)
|
|
|
NM_001148.6(ANK2):c.8406T>C (p.Asp2802=)
|
|
|
NM_001148.6(ANK2):c.8430A>T (p.Glu2810Asp)
|
rs2095832685
|
|
NM_001148.6(ANK2):c.8439T>C (p.Ala2813=)
|
|
|
NM_001148.6(ANK2):c.8469G>A (p.Glu2823=)
|
|
|
NM_001148.6(ANK2):c.8470G>A (p.Gly2824Arg)
|
|
|
NM_001148.6(ANK2):c.8478G>T (p.Glu2826Asp)
|
|
|
NM_001148.6(ANK2):c.85-19T>C
|
|
|
NM_001148.6(ANK2):c.85-20G>A
|
|
|
NM_001148.6(ANK2):c.8501C>A (p.Ser2834Tyr)
|
|
|
NM_001148.6(ANK2):c.8515T>G (p.Cys2839Gly)
|
|
|
NM_001148.6(ANK2):c.8518C>A (p.Pro2840Thr)
|
rs2095839037
|
|
NM_001148.6(ANK2):c.8519C>T (p.Pro2840Leu)
|
rs2095839218
|
|
NM_001148.6(ANK2):c.8562G>T (p.Leu2854Phe)
|
rs2095842493
|
|
NM_001148.6(ANK2):c.8565A>T (p.Val2855=)
|
|
|
NM_001148.6(ANK2):c.8577A>C (p.Lys2859Asn)
|
|
|
NM_001148.6(ANK2):c.8592C>T (p.Asp2864=)
|
rs2154027276
|
|
NM_001148.6(ANK2):c.8608T>C (p.Ser2870Pro)
|
|
|
NM_001148.6(ANK2):c.8611A>G (p.Ile2871Val)
|
rs1199276950
|
|
NM_001148.6(ANK2):c.8614C>A (p.Gln2872Lys)
|
rs2095846712
|
|
NM_001148.6(ANK2):c.8621C>A (p.Thr2874Lys)
|
|
|
NM_001148.6(ANK2):c.8626G>A (p.Val2876Ile)
|
rs369274672
|
|
NM_001148.6(ANK2):c.8630C>T (p.Thr2877Ile)
|
rs763136492
|
|
NM_001148.6(ANK2):c.8641G>A (p.Glu2881Lys)
|
rs2154027405
|
|
NM_001148.6(ANK2):c.8645C>T (p.Thr2882Ile)
|
rs56222626
|
|
NM_001148.6(ANK2):c.8651A>G (p.Glu2884Gly)
|
rs1060501164
|
|
NM_001148.6(ANK2):c.8673C>G (p.Pro2891=)
|
|
|
NM_001148.6(ANK2):c.8681A>T (p.Asp2894Val)
|
rs1589012300
|
|
NM_001148.6(ANK2):c.8706T>C (p.Asp2902=)
|
rs2154027556
|
|
NM_001148.6(ANK2):c.8709A>G (p.Arg2903=)
|
rs773207797
|
|
NM_001148.6(ANK2):c.8728G>A (p.Val2910Met)
|
rs748400535
|
|
NM_001148.6(ANK2):c.8728G>T (p.Val2910Leu)
|
rs748400535
|
|
NM_001148.6(ANK2):c.8733T>A (p.Ser2911=)
|
|
|
NM_001148.6(ANK2):c.8738T>C (p.Leu2913Pro)
|
rs1564041926
|
|
NM_001148.6(ANK2):c.8763T>A (p.Asp2921Glu)
|
rs2154027682
|
|
NM_001148.6(ANK2):c.8772C>A (p.Ile2924=)
|
rs773189867
|
|
NM_001148.6(ANK2):c.8777G>T (p.Ser2926Ile)
|
rs2095861720
|
|
NM_001148.6(ANK2):c.8790T>C (p.Asn2930=)
|
rs777722099
|
|
NM_001148.6(ANK2):c.8804C>T (p.Ser2935Phe)
|
|
|
NM_001148.6(ANK2):c.8812T>C (p.Ser2938Pro)
|
rs745764335
|
|
NM_001148.6(ANK2):c.8814T>G (p.Ser2938=)
|
rs759775013
|
|
NM_001148.6(ANK2):c.8818G>A (p.Glu2940Lys)
|
|
|
NM_001148.6(ANK2):c.8825G>A (p.Ser2942Asn)
|
rs1554565808
|
|
NM_001148.6(ANK2):c.8829A>G (p.Lys2943=)
|
rs1589016672
|
|
NM_001148.6(ANK2):c.8851A>G (p.Thr2951Ala)
|
|
|
NM_001148.6(ANK2):c.8875G>A (p.Val2959Met)
|
rs1188089924
|
|
NM_001148.6(ANK2):c.8891T>C (p.Ile2964Thr)
|
|
|
NM_001148.6(ANK2):c.8892C>T (p.Ile2964=)
|
rs62313245
|
|
NM_001148.6(ANK2):c.8900C>T (p.Pro2967Leu)
|
|
|
NM_001148.6(ANK2):c.8916A>G (p.Val2972=)
|
rs897280623
|
|
NM_001148.6(ANK2):c.8918T>C (p.Val2973Ala)
|
rs142302291
|
|
NM_001148.6(ANK2):c.892-12T>C
|
|
|
NM_001148.6(ANK2):c.892-18C>A
|
|
|
NM_001148.6(ANK2):c.8920G>T (p.Ala2974Ser)
|
rs2154027979
|
|
NM_001148.6(ANK2):c.8942T>C (p.Val2981Ala)
|
rs2095873512
|
|
NM_001148.6(ANK2):c.8950A>G (p.Lys2984Glu)
|
|
|
NM_001148.6(ANK2):c.8958T>C (p.Ser2986=)
|
rs779012328
|
|
NM_001148.6(ANK2):c.896G>C (p.Gly299Ala)
|
|
|
NM_001148.6(ANK2):c.8983A>G (p.Met2995Val)
|
rs879249653
|
|
NM_001148.6(ANK2):c.8997G>A (p.Gln2999=)
|
|
|
NM_001148.6(ANK2):c.9009G>A (p.Leu3003=)
|
|
|
NM_001148.6(ANK2):c.9009G>T (p.Leu3003Phe)
|
rs930979563
|
|
NM_001148.6(ANK2):c.9028A>C (p.Ser3010Arg)
|
|
|
NM_001148.6(ANK2):c.9039A>C (p.Ser3013=)
|
|
|
NM_001148.6(ANK2):c.903A>G (p.Thr301=)
|
rs2153601389
|
|
NM_001148.6(ANK2):c.9061G>C (p.Ala3021Pro)
|
|
|
NM_001148.6(ANK2):c.9064ACA[2] (p.Thr3024del)
|
|
|
NM_001148.6(ANK2):c.9091A>G (p.Ser3031Gly)
|
rs2154028339
|
|
NM_001148.6(ANK2):c.9109A>G (p.Lys3037Glu)
|
rs768741443
|
|
NM_001148.6(ANK2):c.9133T>G (p.Trp3045Gly)
|
rs1345598685
|
|
NM_001148.6(ANK2):c.9141A>C (p.Glu3047Asp)
|
rs1273694931
|
|
NM_001148.6(ANK2):c.9141A>G (p.Glu3047=)
|
rs1273694931
|
|
NM_001148.6(ANK2):c.9146G>A (p.Arg3049Gln)
|
rs1717042447
|
|
NM_001148.6(ANK2):c.9161C>G (p.Ala3054Gly)
|
rs139007578
|
|
NM_001148.6(ANK2):c.9161C>T (p.Ala3054Val)
|
rs139007578
|
|
NM_001148.6(ANK2):c.9162del (p.Phe3055fs)
|
|
|
NM_001148.6(ANK2):c.916G>C (p.Ala306Pro)
|
rs2153601483
|
|
NM_001148.6(ANK2):c.9188A>C (p.Glu3063Ala)
|
|
|
NM_001148.6(ANK2):c.9192A>G (p.Gln3064=)
|
rs1554567994
|
|
NM_001148.6(ANK2):c.9205T>G (p.Leu3069Val)
|
|
|
NM_001148.6(ANK2):c.9208A>G (p.Met3070Val)
|
rs2095893623
|
|
NM_001148.6(ANK2):c.9228G>A (p.Gln3076=)
|
rs1223201780
|
|
NM_001148.6(ANK2):c.9260C>T (p.Thr3087Ile)
|
rs2154028671
|
|
NM_001148.6(ANK2):c.9281CAA[1] (p.Thr3095del)
|
rs2095900155
|
|
NM_001148.6(ANK2):c.9306G>A (p.Leu3102=)
|
rs1589029903
|
|
NM_001148.6(ANK2):c.9322T>C (p.Leu3108=)
|
rs1234637379
|
|
NM_001148.6(ANK2):c.9365G>C (p.Arg3122Thr)
|
|
|
NM_001148.6(ANK2):c.9371A>C (p.Tyr3124Ser)
|
rs2095905515
|
|
NM_001148.6(ANK2):c.9374C>T (p.Ala3125Val)
|
|
|
NM_001148.6(ANK2):c.9400A>G (p.Ile3134Val)
|
|
|
NM_001148.6(ANK2):c.9439G>A (p.Val3147Met)
|
|
|
NM_001148.6(ANK2):c.9451G>A (p.Ala3151Thr)
|
|
|
NM_001148.6(ANK2):c.9461C>T (p.Ala3154Val)
|
rs1054381464
|
|
NM_001148.6(ANK2):c.9465T>C (p.Asp3155=)
|
|
|
NM_001148.6(ANK2):c.946G>C (p.Glu316Gln)
|
|
|
NM_001148.6(ANK2):c.9474G>T (p.Pro3158=)
|
rs145111737
|
|
NM_001148.6(ANK2):c.9475C>T (p.Leu3159=)
|
|
|
NM_001148.6(ANK2):c.9478G>T (p.Glu3160Ter)
|
rs2095919119
|
|
NM_001148.6(ANK2):c.9487G>A (p.Ala3163Thr)
|
rs2095919636
|
|
NM_001148.6(ANK2):c.9510A>C (p.Glu3170Asp)
|
rs1197969705
|
|
NM_001148.6(ANK2):c.9511T>G (p.Ser3171Ala)
|
rs1554569481
|
|
NM_001148.6(ANK2):c.9529G>C (p.Asp3177His)
|
|
|
NM_001148.6(ANK2):c.9588G>A (p.Ser3196=)
|
|
|
NM_001148.6(ANK2):c.9599T>A (p.Leu3200His)
|
rs2154029356
|
|
NM_001148.6(ANK2):c.9606C>A (p.Ser3202=)
|
rs370760271
|
|
NM_001148.6(ANK2):c.9618T>A (p.Ile3206=)
|
|
|
NM_001148.6(ANK2):c.9627C>T (p.Ser3209=)
|
|
|
NM_001148.6(ANK2):c.963G>C (p.Arg321=)
|
rs749639153
|
|
NM_001148.6(ANK2):c.9658G>A (p.Val3220Ile)
|
|
|
NM_001148.6(ANK2):c.9673C>A (p.Leu3225Ile)
|
|
|
NM_001148.6(ANK2):c.9702T>A (p.Pro3234=)
|
|
|
NM_001148.6(ANK2):c.9706C>T (p.Leu3236Phe)
|
|
|
NM_001148.6(ANK2):c.9712G>T (p.Gly3238Cys)
|
|
|
NM_001148.6(ANK2):c.9715G>A (p.Val3239Ile)
|
|
|
NM_001148.6(ANK2):c.9722A>G (p.Gln3241Arg)
|
|
|
NM_001148.6(ANK2):c.9724A>C (p.Ile3242Leu)
|
rs2154029621
|
|
NM_001148.6(ANK2):c.9727T>A (p.Ser3243Thr)
|
rs2095947595
|
|
NM_001148.6(ANK2):c.9760G>A (p.Val3254Ile)
|
rs2154029715
|
|
NM_001148.6(ANK2):c.9764A>G (p.Gln3255Arg)
|
rs2154029721
|
|
NM_001148.6(ANK2):c.9785C>T (p.Thr3262Ile)
|
rs2095954523
|
|
NM_001148.6(ANK2):c.9789G>T (p.Arg3263Ser)
|
|
|
NM_001148.6(ANK2):c.9800C>T (p.Ser3267Leu)
|
rs1060501156
|
|
NM_001148.6(ANK2):c.9807G>A (p.Arg3269=)
|
|
|
NM_001148.6(ANK2):c.9808G>T (p.Gly3270Cys)
|
|
|
NM_001148.6(ANK2):c.9817del (p.Ser3273fs)
|
|
|
NM_001148.6(ANK2):c.9830C>T (p.Ser3277Phe)
|
|
|
NM_001148.6(ANK2):c.9832C>T (p.Pro3278Ser)
|
|
|
NM_001148.6(ANK2):c.9833C>T (p.Pro3278Leu)
|
rs1374406921
|
|
NM_001148.6(ANK2):c.9855C>T (p.Ile3285=)
|
|
|
NM_001148.6(ANK2):c.9864T>C (p.Pro3288=)
|
|
|
NM_001148.6(ANK2):c.9875T>C (p.Met3292Thr)
|
rs1439525696
|
|
NM_001148.6(ANK2):c.9883G>T (p.Val3295Leu)
|
rs2095967063
|
|
NM_001148.6(ANK2):c.9886C>T (p.Pro3296Ser)
|
rs771113677
|
|
NM_001148.6(ANK2):c.9887C>G (p.Pro3296Arg)
|
rs774765910
|
|
NM_001148.6(ANK2):c.9887C>T (p.Pro3296Leu)
|
|
|
NM_001148.6(ANK2):c.9888T>C (p.Pro3296=)
|
|
|
NM_001148.6(ANK2):c.990+14A>C
|
|
|
NM_001148.6(ANK2):c.990+20A>G
|
|
|
NM_001148.6(ANK2):c.990+7C>T
|
rs2153602020
|
|
NM_001148.6(ANK2):c.991-4G>A
|
rs2048979255
|
|
NM_001148.6(ANK2):c.9913C>G (p.Pro3305Ala)
|
rs749246876
|
|
NM_001148.6(ANK2):c.9916G>C (p.Val3306Leu)
|
|
|
NM_001148.6(ANK2):c.9916G>T (p.Val3306Leu)
|
|
|
NM_001148.6(ANK2):c.9928C>T (p.Pro3310Ser)
|
rs2154030076
|
|
NM_001148.6(ANK2):c.993T>A (p.Asn331Lys)
|
rs2048981037
|
|
NM_001148.6(ANK2):c.9962A>G (p.Tyr3321Cys)
|
|
|
NM_001148.6(ANK2):c.9980A>T (p.Glu3327Val)
|
|
|
NM_001148.6(ANK2):c.9984T>C (p.Asp3328=)
|
rs1554570983
|
|
NM_001148.6(ANK2):c.9985T>C (p.Phe3329Leu)
|
|
|
NM_001148.6(ANK2):c.9991T>C (p.Ser3331Pro)
|
|
|
NM_001167623.2(CACNA1C):c.1136A>C (p.Glu379Ala)
|
|
|
NM_001167623.2(CACNA1C):c.1147G>T (p.Val383Leu)
|
|
|
NM_001167623.2(CACNA1C):c.1185C>T (p.Phe395=)
|
|
|
NM_001167623.2(CACNA1C):c.1204G>A (p.Gly402Ser)
|
rs587782933
|
|
NM_001167623.2(CACNA1C):c.1215C>T (p.Ser405=)
|
rs751480224
|
|
NM_001167623.2(CACNA1C):c.1216G>A (p.Gly406Arg)
|
rs786205745
|
|
NM_001276345.2(TNNT2):c.104A>T (p.Glu35Val)
|
|
|
NM_001276345.2(TNNT2):c.10A>G (p.Ile4Val)
|
rs139705141
|
|
NM_001276345.2(TNNT2):c.112G>A (p.Ala38Thr)
|
|
|
NM_001276345.2(TNNT2):c.114G>T (p.Ala38=)
|
|
|
NM_001276345.2(TNNT2):c.118G>A (p.Glu40Lys)
|
rs2102283637
|
|
NM_001276345.2(TNNT2):c.121G>A (p.Asp41Asn)
|
rs748078123
|
|
NM_001276345.2(TNNT2):c.124G>A (p.Ala42Thr)
|
rs1571649102
|
|
NM_001276345.2(TNNT2):c.124G>T (p.Ala42Ser)
|
|
|
NM_001276345.2(TNNT2):c.131C>T (p.Ala44Val)
|
|
|
NM_001276345.2(TNNT2):c.134A>G (p.Glu45Gly)
|
|
|
NM_001276345.2(TNNT2):c.142A>G (p.Thr48Ala)
|
|
|
NM_001276345.2(TNNT2):c.146A>T (p.Glu49Val)
|
|
|
NM_001276345.2(TNNT2):c.147G>A (p.Glu49=)
|
|
|
NM_001276345.2(TNNT2):c.149A>G (p.Glu50Gly)
|
|
|
NM_001276345.2(TNNT2):c.159del (p.Glu54fs)
|
|
|
NM_001276345.2(TNNT2):c.161A>T (p.Glu54Val)
|
|
|
NM_001276345.2(TNNT2):c.163+12G>T
|
rs45580032
|
|
NM_001276345.2(TNNT2):c.163+17G>A
|
|
|
NM_001276345.2(TNNT2):c.163+2T>C
|
|
|
NM_001276345.2(TNNT2):c.163+5G>A
|
rs727504254
|
|
NM_001276345.2(TNNT2):c.163+8T>C
|
|
|
NM_001276345.2(TNNT2):c.163G>A (p.Glu55Lys)
|
rs730881120
|
|
NM_001276345.2(TNNT2):c.163G>T (p.Glu55Ter)
|
rs730881120
|
|
NM_001276345.2(TNNT2):c.164-14C>A
|
|
|
NM_001276345.2(TNNT2):c.164-15T>C
|
|
|
NM_001276345.2(TNNT2):c.164-5T>C
|
|
|
NM_001276345.2(TNNT2):c.171AGA[2] (p.Glu61del)
|
rs781616719
|
|
NM_001276345.2(TNNT2):c.175G>A (p.Glu59Lys)
|
rs568628521
|
|
NM_001276345.2(TNNT2):c.180G>C (p.Glu60Asp)
|
|
|
NM_001276345.2(TNNT2):c.184G>A (p.Ala62Thr)
|
|
|
NM_001276345.2(TNNT2):c.199+13G>A
|
|
|
NM_001276345.2(TNNT2):c.199+4A>G
|
|
|
NM_001276345.2(TNNT2):c.199+5G>A
|
|
|
NM_001276345.2(TNNT2):c.199+9A>T
|
rs749187235
|
|
NM_001276345.2(TNNT2):c.1A>G (p.Met1Val)
|
rs1228403814
|
|
NM_001276345.2(TNNT2):c.200-11A>T
|
|
|
NM_001276345.2(TNNT2):c.200-15T>G
|
|
|
NM_001276345.2(TNNT2):c.200-16C>G
|
|
|
NM_001276345.2(TNNT2):c.200-1G>A
|
rs2102274124
|
|
NM_001276345.2(TNNT2):c.200-6C>T
|
rs1659750096
|
|
NM_001276345.2(TNNT2):c.200-8T>C
|
|
|
NM_001276345.2(TNNT2):c.207A>G (p.Pro69=)
|
rs531954320
|
|
NM_001276345.2(TNNT2):c.212A>C (p.Glu71Ala)
|
rs2102274024
|
|
NM_001276345.2(TNNT2):c.213G>A (p.Glu71=)
|
|
|
NM_001276345.2(TNNT2):c.218C>A (p.Ser73Tyr)
|
|
|
NM_001276345.2(TNNT2):c.224C>A (p.Pro75Gln)
|
|
|
NM_001276345.2(TNNT2):c.225A>G (p.Pro75=)
|
rs2102273890
|
|
NM_001276345.2(TNNT2):c.226A>C (p.Lys76Gln)
|
rs2102273869
|
|
NM_001276345.2(TNNT2):c.228G>A (p.Lys76=)
|
rs727504869
|
|
NM_001276345.2(TNNT2):c.233+10G>A
|
rs543193858
|
|
NM_001276345.2(TNNT2):c.233+3G>A
|
|
|
NM_001276345.2(TNNT2):c.233+9G>A
|
rs1553283445
|
|
NM_001276345.2(TNNT2):c.233+9G>T
|
rs1553283445
|
|
NM_001276345.2(TNNT2):c.234-10T>C
|
rs1342160801
|
|
NM_001276345.2(TNNT2):c.234-13C>A
|
|
|
NM_001276345.2(TNNT2):c.234-13C>T
|
|
|
NM_001276345.2(TNNT2):c.234-2A>G
|
rs1659534628
|
|
NM_001276345.2(TNNT2):c.234-6C>T
|
|
|
NM_001276345.2(TNNT2):c.234-9C>G
|
rs1571631213
|
|
NM_001276345.2(TNNT2):c.234G>A (p.Arg78=)
|
|
|
NM_001276345.2(TNNT2):c.235T>A (p.Ser79Thr)
|
|
|
NM_001276345.2(TNNT2):c.236C>T (p.Ser79Leu)
|
rs761953142
|
|
NM_001276345.2(TNNT2):c.237G>T (p.Ser79=)
|
rs3729845
|
|
NM_001276345.2(TNNT2):c.238T>C (p.Phe80Leu)
|
rs886039053
|
|
NM_001276345.2(TNNT2):c.243G>A (p.Met81Ile)
|
rs2102265521
|
|
NM_001276345.2(TNNT2):c.247A>G (p.Asn83Asp)
|
rs1060500235
|
|
NM_001276345.2(TNNT2):c.248A>C (p.Asn83Thr)
|
|
|
NM_001276345.2(TNNT2):c.251T>G (p.Leu84Trp)
|
|
|
NM_001276345.2(TNNT2):c.255G>T (p.Val85=)
|
rs780115529
|
|
NM_001276345.2(TNNT2):c.259C>A (p.Pro87Thr)
|
rs730881096
|
|
NM_001276345.2(TNNT2):c.262A>G (p.Lys88Glu)
|
rs1659525886
|
|
NM_001276345.2(TNNT2):c.264G>C (p.Lys88Asn)
|
|
|
NM_001276345.2(TNNT2):c.266T>A (p.Ile89Asn)
|
rs121964855
|
|
NM_001276345.2(TNNT2):c.268C>A (p.Pro90Thr)
|
rs397516451
|
|
NM_001276345.2(TNNT2):c.268C>T (p.Pro90Ser)
|
rs397516451
|
|
NM_001276345.2(TNNT2):c.270C>G (p.Pro90=)
|
rs140245123
|
|
NM_001276345.2(TNNT2):c.270C>T (p.Pro90=)
|
rs140245123
|
|
NM_001276345.2(TNNT2):c.271G>A (p.Asp91Asn)
|
rs1571630555
|
|
NM_001276345.2(TNNT2):c.272_274del (p.Asp91del)
|
|
|
NM_001276345.2(TNNT2):c.279G>A (p.Glu93=)
|
|
|
NM_001276345.2(TNNT2):c.281G>C (p.Arg94Thr)
|
rs397516452
|
|
NM_001276345.2(TNNT2):c.281G>T (p.Arg94Ile)
|
|
|
NM_001276345.2(TNNT2):c.282_285dup (p.Asp96fs)
|
|
|
NM_001276345.2(TNNT2):c.283G>A (p.Val95Met)
|
rs1659515084
|
|
NM_001276345.2(TNNT2):c.284T>C (p.Val95Ala)
|
rs2102264743
|
|
NM_001276345.2(TNNT2):c.285G>A (p.Val95=)
|
rs1060503885
|
|
NM_001276345.2(TNNT2):c.286G>A (p.Asp96Asn)
|
rs1553282768
|
|
NM_001276345.2(TNNT2):c.290T>A (p.Phe97Tyr)
|
|
|
NM_001276345.2(TNNT2):c.290T>G (p.Phe97Cys)
|
|
|
NM_001276345.2(TNNT2):c.290_293delinsCTCTCCATCCCCGATGGAGAGAGAG (p.Phe97_Asp98delinsSerLeuHisProArgTrpArgGluSer)
|
|
|
NM_001276345.2(TNNT2):c.294+11G>A
|
|
|
NM_001276345.2(TNNT2):c.294+2T>A
|
rs1659512591
|
|
NM_001276345.2(TNNT2):c.294+8G>C
|
rs374092436
|
|
NM_001276345.2(TNNT2):c.295-11T>A
|
|
|
NM_001276345.2(TNNT2):c.295-11T>G
|
|
|
NM_001276345.2(TNNT2):c.295-17C>T
|
|
|
NM_001276345.2(TNNT2):c.295-18G>A
|
|
|
NM_001276345.2(TNNT2):c.295-1G>A
|
rs113876817
|
|
NM_001276345.2(TNNT2):c.295G>C (p.Asp99His)
|
|
|
NM_001276345.2(TNNT2):c.300C>T (p.Ile100=)
|
rs1230932782
|
|
NM_001276345.2(TNNT2):c.302A>T (p.His101Leu)
|
rs1553282617
|
|
NM_001276345.2(TNNT2):c.304C>G (p.Arg102Gly)
|
|
|
NM_001276345.2(TNNT2):c.309G>T (p.Lys103Asn)
|
rs778426227
|
|
NM_001276345.2(TNNT2):c.310C>T (p.Arg104Cys)
|
rs727503513
|
|
NM_001276345.2(TNNT2):c.311G>A (p.Arg104His)
|
rs397516457
|
|
NM_001276345.2(TNNT2):c.311G>T (p.Arg104Leu)
|
rs397516457
|
|
NM_001276345.2(TNNT2):c.313A>G (p.Met105Val)
|
rs397516458
|
|
NM_001276345.2(TNNT2):c.314T>A (p.Met105Lys)
|
|
|
NM_001276345.2(TNNT2):c.314T>C (p.Met105Thr)
|
|
|
NM_001276345.2(TNNT2):c.316G>A (p.Glu106Lys)
|
rs869312881
|
|
NM_001276345.2(TNNT2):c.319A>G (p.Lys107Glu)
|
rs1659444898
|
|
NM_001276345.2(TNNT2):c.321G>A (p.Lys107=)
|
rs397516459
|
|
NM_001276345.2(TNNT2):c.321G>C (p.Lys107Asn)
|
|
|
NM_001276345.2(TNNT2):c.321G>T (p.Lys107Asn)
|
rs397516459
|
|
NM_001276345.2(TNNT2):c.322G>C (p.Asp108His)
|
|
|
NM_001276345.2(TNNT2):c.323A>T (p.Asp108Val)
|
|
|
NM_001276345.2(TNNT2):c.324C>A (p.Asp108Glu)
|
rs1553282545
|
|
NM_001276345.2(TNNT2):c.325C>T (p.Leu109=)
|
rs779857935
|
|
NM_001276345.2(TNNT2):c.327G>A (p.Leu109=)
|
rs2102261737
|
|
NM_001276345.2(TNNT2):c.332A>G (p.Glu111Gly)
|
|
|
NM_001276345.2(TNNT2):c.333G>C (p.Glu111Asp)
|
rs1659441464
|
|
NM_001276345.2(TNNT2):c.337C>G (p.Gln113Glu)
|
rs2102261570
|
|
NM_001276345.2(TNNT2):c.340G>A (p.Ala114Thr)
|
rs1553282527
|
|
NM_001276345.2(TNNT2):c.340G>C (p.Ala114Pro)
|
rs1553282527
|
|
NM_001276345.2(TNNT2):c.341C>A (p.Ala114Glu)
|
rs727504245
|
|
NM_001276345.2(TNNT2):c.342G>A (p.Ala114=)
|
rs918054429
|
|
NM_001276345.2(TNNT2):c.344T>C (p.Leu115Pro)
|
rs1659438954
|
|
NM_001276345.2(TNNT2):c.347_348delinsCT (p.Ile116Thr)
|
rs1553282523
|
|
NM_001276345.2(TNNT2):c.34G>C (p.Glu12Gln)
|
rs760247765
|
|
NM_001276345.2(TNNT2):c.351G>A (p.Glu117=)
|
rs1659436211
|
|
NM_001276345.2(TNNT2):c.352G>A (p.Ala118Thr)
|
|
|
NM_001276345.2(TNNT2):c.357C>T (p.His119=)
|
|
|
NM_001276345.2(TNNT2):c.362A>G (p.Glu121Gly)
|
rs2102261165
|
|
NM_001276345.2(TNNT2):c.363G>A (p.Glu121=)
|
rs2102261144
|
|
NM_001276345.2(TNNT2):c.364A>G (p.Asn122Asp)
|
rs1553282484
|
|
NM_001276345.2(TNNT2):c.366C>T (p.Asn122=)
|
rs979006197
|
|
NM_001276345.2(TNNT2):c.369G>C (p.Arg123Ser)
|
rs1558230929
|
|
NM_001276345.2(TNNT2):c.375del (p.Glu126fs)
|
rs560019679
|
|
NM_001276345.2(TNNT2):c.377_378del (p.Glu126fs)
|
rs1246597926
|
|
NM_001276345.2(TNNT2):c.378G>A (p.Glu126=)
|
|
|
NM_001276345.2(TNNT2):c.388C>G (p.Leu130Val)
|
|
|
NM_001276345.2(TNNT2):c.391G>C (p.Val131Leu)
|
rs537067344
|
|
NM_001276345.2(TNNT2):c.395C>A (p.Ser132Tyr)
|
rs1659426786
|
|
NM_001276345.2(TNNT2):c.397C>T (p.Leu133Phe)
|
|
|
NM_001276345.2(TNNT2):c.398T>G (p.Leu133Arg)
|
rs2102260711
|
|
NM_001276345.2(TNNT2):c.3G>A (p.Met1Ile)
|
rs1289914935
|
|
NM_001276345.2(TNNT2):c.400A>G (p.Lys134Glu)
|
|
|
NM_001276345.2(TNNT2):c.407G>T (p.Arg136Met)
|
|
|
NM_001276345.2(TNNT2):c.40G>T (p.Glu14Ter)
|
|
|
NM_001276345.2(TNNT2):c.41+14G>A
|
|
|
NM_001276345.2(TNNT2):c.41+16A>T
|
rs370729174
|
|
NM_001276345.2(TNNT2):c.41+6dup
|
rs1479180367
|
|
NM_001276345.2(TNNT2):c.412-4T>G
|
rs757304775
|
|
NM_001276345.2(TNNT2):c.412-6_412-4del
|
rs397516462
|
|
NM_001276345.2(TNNT2):c.42-11G>C
|
|
|
NM_001276345.2(TNNT2):c.42-12T>C
|
|
|
NM_001276345.2(TNNT2):c.42-18_42-17del
|
|
|
NM_001276345.2(TNNT2):c.42-5C>G
|
|
|
NM_001276345.2(TNNT2):c.42-6T>C
|
rs1660720268
|
|
NM_001276345.2(TNNT2):c.42-8G>A
|
|
|
NM_001276345.2(TNNT2):c.420T>C (p.Arg140=)
|
|
|
NM_001276345.2(TNNT2):c.421C>T (p.Arg141Trp)
|
rs74315380
|
|
NM_001276345.2(TNNT2):c.422G>A (p.Arg141Gln)
|
rs397516464
|
|
NM_001276345.2(TNNT2):c.422G>C (p.Arg141Pro)
|
rs397516464
|
|
NM_001276345.2(TNNT2):c.425C>T (p.Ala142Val)
|
|
|
NM_001276345.2(TNNT2):c.430C>G (p.Arg144Gly)
|
rs45525839
|
|
NM_001276345.2(TNNT2):c.430C>T (p.Arg144Trp)
|
rs45525839
|
|
NM_001276345.2(TNNT2):c.441G>A (p.Gln147=)
|
rs1044313920
|
|
NM_001276345.2(TNNT2):c.444G>A (p.Gln148=)
|
rs2102253556
|
|
NM_001276345.2(TNNT2):c.445C>G (p.Arg149Gly)
|
|
|
NM_001276345.2(TNNT2):c.445C>T (p.Arg149Cys)
|
rs397516465
|
|
NM_001276345.2(TNNT2):c.446G>A (p.Arg149His)
|
rs397516466
|
|
NM_001276345.2(TNNT2):c.447C>T (p.Arg149=)
|
rs1257601230
|
|
NM_001276345.2(TNNT2):c.448A>G (p.Ile150Val)
|
|
|
NM_001276345.2(TNNT2):c.451C>A (p.Arg151=)
|
rs74315379
|
|
NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp)
|
rs74315379
|
|
NM_001276345.2(TNNT2):c.451del (p.Arg151fs)
|
rs730881115
|
|
NM_001276345.2(TNNT2):c.453G>C (p.Arg151=)
|
rs786204406
|
|
NM_001276345.2(TNNT2):c.463G>A (p.Glu155Lys)
|
rs984218824
|
|
NM_001276345.2(TNNT2):c.465G>A (p.Glu155=)
|
rs1416632771
|
|
NM_001276345.2(TNNT2):c.470A>G (p.Glu157Gly)
|
|
|
NM_001276345.2(TNNT2):c.473_474delinsAC (p.Arg158His)
|
rs1659257189
|
|
NM_001276345.2(TNNT2):c.476A>C (p.Gln159Pro)
|
|
|
NM_001276345.2(TNNT2):c.476A>T (p.Gln159Leu)
|
rs1659255484
|
|
NM_001276345.2(TNNT2):c.481C>T (p.Arg161Cys)
|
rs45608937
|
|
NM_001276345.2(TNNT2):c.487G>A (p.Ala163Thr)
|
rs727505030
|
|
NM_001276345.2(TNNT2):c.489+16C>A
|
rs1220628508
|
|
NM_001276345.2(TNNT2):c.489+18del
|
|
|
NM_001276345.2(TNNT2):c.489+7G>T
|
rs2102252517
|
|
NM_001276345.2(TNNT2):c.489+9C>A
|
rs1060503884
|
|
NM_001276345.2(TNNT2):c.490-10T>C
|
rs1659073969
|
|
NM_001276345.2(TNNT2):c.490-11C>A
|
|
|
NM_001276345.2(TNNT2):c.490-14C>G
|
|
|
NM_001276345.2(TNNT2):c.490-69C>T
|
rs483352834
|
|
NM_001276345.2(TNNT2):c.493G>T (p.Glu165Ter)
|
rs1558225837
|
|
NM_001276345.2(TNNT2):c.497G>A (p.Arg166Lys)
|
|
|
NM_001276345.2(TNNT2):c.498G>A (p.Arg166=)
|
rs750399630
|
|
NM_001276345.2(TNNT2):c.4T>C (p.Ser2Pro)
|
rs765584396
|
|
NM_001276345.2(TNNT2):c.500C>G (p.Ala167Gly)
|
|
|
NM_001276345.2(TNNT2):c.502C>G (p.Arg168Gly)
|
rs730881103
|
|
NM_001276345.2(TNNT2):c.502C>T (p.Arg168Ter)
|
|
|
NM_001276345.2(TNNT2):c.503G>A (p.Arg168Gln)
|
rs397516468
|
|
NM_001276345.2(TNNT2):c.503G>C (p.Arg168Pro)
|
rs397516468
|
|
NM_001276345.2(TNNT2):c.505C>G (p.Arg169Gly)
|
|
|
NM_001276345.2(TNNT2):c.506G>A (p.Arg169Gln)
|
rs45501500
|
|
NM_001276345.2(TNNT2):c.507A>G (p.Arg169=)
|
|
|
NM_001276345.2(TNNT2):c.508GAG[3] (p.Glu173del)
|
rs397516470
|
|
NM_001276345.2(TNNT2):c.508GAG[5] (p.Glu173dup)
|
rs397516470
|
|
NM_001276345.2(TNNT2):c.513G>A (p.Glu171=)
|
rs1378883954
|
|
NM_001276345.2(TNNT2):c.516_517delinsTT (p.Glu172_Glu173delinsAspTer)
|
rs730881118
|
|
NM_001276345.2(TNNT2):c.517G>A (p.Glu173Lys)
|
rs1558225569
|
|
NM_001276345.2(TNNT2):c.518A>G (p.Glu173Gly)
|
rs780067626
|
|
NM_001276345.2(TNNT2):c.52+13_52+17dup
|
|
|
NM_001276345.2(TNNT2):c.52+18T>C
|
|
|
NM_001276345.2(TNNT2):c.528G>A (p.Arg176=)
|
|
|
NM_001276345.2(TNNT2):c.529A>G (p.Lys177Glu)
|
rs2102245349
|
|
NM_001276345.2(TNNT2):c.52G>T (p.Glu18Ter)
|
|
|
NM_001276345.2(TNNT2):c.53-11C>T
|
|
|
NM_001276345.2(TNNT2):c.53-11_53-7del
|
rs45533739
|
|
NM_001276345.2(TNNT2):c.53-19G>A
|
rs2102308860
|
|
NM_001276345.2(TNNT2):c.53-4G>A
|
rs2102308667
|
|
NM_001276345.2(TNNT2):c.53-6G>A
|
rs764862951
|
|
NM_001276345.2(TNNT2):c.547C>A (p.Arg183=)
|
|
|
NM_001276345.2(TNNT2):c.547C>G (p.Arg183Gly)
|
rs727503512
|
|
NM_001276345.2(TNNT2):c.547C>T (p.Arg183Trp)
|
rs727503512
|
|
NM_001276345.2(TNNT2):c.548G>A (p.Arg183Gln)
|
rs397516471
|
|
NM_001276345.2(TNNT2):c.549G>A (p.Arg183=)
|
|
|
NM_001276345.2(TNNT2):c.550A>C (p.Lys184Gln)
|
|
|
NM_001276345.2(TNNT2):c.557A>T (p.Lys186Met)
|
rs1486862820
|
|
NM_001276345.2(TNNT2):c.558G>A (p.Lys186=)
|
|
|
NM_001276345.2(TNNT2):c.55G>T (p.Ala19Ser)
|
|
|
NM_001276345.2(TNNT2):c.564G>C (p.Leu188Phe)
|
rs201270895
|
|
NM_001276345.2(TNNT2):c.565T>G (p.Ser189Ala)
|
rs377157235
|
|
NM_001276345.2(TNNT2):c.566C>T (p.Ser189Phe)
|
rs727504246
|
|
NM_001276345.2(TNNT2):c.570C>T (p.Asn190=)
|
rs764636823
|
|
NM_001276345.2(TNNT2):c.571A>T (p.Met191Leu)
|
|
|
NM_001276345.2(TNNT2):c.572T>C (p.Met191Thr)
|
rs869025538
|
|
NM_001276345.2(TNNT2):c.573G>A (p.Met191Ile)
|
rs876658028
|
|
NM_001276345.2(TNNT2):c.574A>T (p.Met192Leu)
|
rs1553281184
|
|
NM_001276345.2(TNNT2):c.576G>A (p.Met192Ile)
|
|
|
NM_001276345.2(TNNT2):c.577C>T (p.His193Tyr)
|
rs753292088
|
|
NM_001276345.2(TNNT2):c.578A>G (p.His193Arg)
|
rs2102244668
|
|
NM_001276345.2(TNNT2):c.57A>T (p.Ala19=)
|
rs1571673874
|
|
NM_001276345.2(TNNT2):c.584G>T (p.Gly195Val)
|
rs1558224822
|
|
NM_001276345.2(TNNT2):c.58G>T (p.Ala20Ser)
|
|
|
NM_001276345.2(TNNT2):c.590A>G (p.Tyr197Cys)
|
rs1659042676
|
|
NM_001276345.2(TNNT2):c.593T>A (p.Ile198Asn)
|
rs878854148
|
|
NM_001276345.2(TNNT2):c.593T>C (p.Ile198Thr)
|
rs878854148
|
|
NM_001276345.2(TNNT2):c.59C>A (p.Ala20Asp)
|
|
|
NM_001276345.2(TNNT2):c.600+13C>T
|
|
|
NM_001276345.2(TNNT2):c.600+13CAG[3]
|
|
|
NM_001276345.2(TNNT2):c.600+14A>G
|
|
|
NM_001276345.2(TNNT2):c.600+14A>T
|
|
|
NM_001276345.2(TNNT2):c.600+20G>T
|
|
|
NM_001276345.2(TNNT2):c.600+4G>C
|
rs372988386
|
|
NM_001276345.2(TNNT2):c.600+5G>A
|
rs1571614401
|
|
NM_001276345.2(TNNT2):c.600G>A (p.Lys200=)
|
|
|
NM_001276345.2(TNNT2):c.601-7G>T
|
|
|
NM_001276345.2(TNNT2):c.601-8C>A
|
rs397516475
|
|
NM_001276345.2(TNNT2):c.609+18C>T
|
|
|
NM_001276345.2(TNNT2):c.609+1G>A
|
|
|
NM_001276345.2(TNNT2):c.609+1G>T
|
|
|
NM_001276345.2(TNNT2):c.610-10C>T
|
rs375547142
|
|
NM_001276345.2(TNNT2):c.610-12C>T
|
|
|
NM_001276345.2(TNNT2):c.610-4C>A
|
|
|
NM_001276345.2(TNNT2):c.610-9A>C
|
|
|
NM_001276345.2(TNNT2):c.611C>T (p.Thr204Ile)
|
rs2102235172
|
|
NM_001276345.2(TNNT2):c.613G>C (p.Glu205Gln)
|
|
|
NM_001276345.2(TNNT2):c.614A>G (p.Glu205Gly)
|
rs1658740460
|
|
NM_001276345.2(TNNT2):c.614_615del (p.Glu205fs)
|
rs760664767
|
|
NM_001276345.2(TNNT2):c.616C>T (p.Arg206Trp)
|
rs730881106
|
|
NM_001276345.2(TNNT2):c.617G>T (p.Arg206Leu)
|
|
|
NM_001276345.2(TNNT2):c.619A>G (p.Lys207Glu)
|
rs1658737079
|
|
NM_001276345.2(TNNT2):c.61G>A (p.Val21Ile)
|
|
|
NM_001276345.2(TNNT2):c.620A>G (p.Lys207Arg)
|
|
|
NM_001276345.2(TNNT2):c.624T>G (p.Ser208Arg)
|
|
|
NM_001276345.2(TNNT2):c.632G>C (p.Arg211Thr)
|
|
|
NM_001276345.2(TNNT2):c.638C>A (p.Thr213Asn)
|
rs397516476
|
|
NM_001276345.2(TNNT2):c.638C>G (p.Thr213Ser)
|
rs397516476
|
|
NM_001276345.2(TNNT2):c.63dup (p.Glu22Ter)
|
|
|
NM_001276345.2(TNNT2):c.643C>T (p.Arg215Trp)
|
rs45586240
|
|
NM_001276345.2(TNNT2):c.644G>A (p.Arg215Gln)
|
rs121964860
|
|
NM_001276345.2(TNNT2):c.645G>C (p.Arg215=)
|
rs1571605548
|
|
NM_001276345.2(TNNT2):c.650AGA[2] (p.Lys219_Lys220del)
|
|
|
NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del)
|
rs45578238
|
|
NM_001276345.2(TNNT2):c.655A>T (p.Lys219Ter)
|
rs1658729126
|
|
NM_001276345.2(TNNT2):c.659A>C (p.Lys220Thr)
|
|
|
NM_001276345.2(TNNT2):c.668C>T (p.Ala223Val)
|
|
|
NM_001276345.2(TNNT2):c.67+18G>C
|
|
|
NM_001276345.2(TNNT2):c.67+20G>A
|
|
|
NM_001276345.2(TNNT2):c.67+5G>A
|
|
|
NM_001276345.2(TNNT2):c.67+7G>T
|
rs1312770200
|
|
NM_001276345.2(TNNT2):c.676A>G (p.Arg226Gly)
|
rs1658724713
|
|
NM_001276345.2(TNNT2):c.676A>T (p.Arg226Trp)
|
rs1658724713
|
|
NM_001276345.2(TNNT2):c.68-6C>A
|
rs941842854
|
|
NM_001276345.2(TNNT2):c.681G>A (p.Lys227=)
|
rs2102234206
|
|
NM_001276345.2(TNNT2):c.682G>C (p.Val228Leu)
|
rs397516479
|
|
NM_001276345.2(TNNT2):c.694G>T (p.Asp232Tyr)
|
rs1658720414
|
|
NM_001276345.2(TNNT2):c.696C>T (p.Asp232=)
|
rs2102234025
|
|
NM_001276345.2(TNNT2):c.709G>A (p.Asp237Asn)
|
|
|
NM_001276345.2(TNNT2):c.712C>G (p.Gln238Glu)
|
rs730881108
|
|
NM_001276345.2(TNNT2):c.714G>A (p.Gln238=)
|
|
|
NM_001276345.2(TNNT2):c.715C>T (p.Leu239=)
|
|
|
NM_001276345.2(TNNT2):c.719+13A>C
|
rs563883763
|
|
NM_001276345.2(TNNT2):c.719+13A>G
|
rs563883763
|
|
NM_001276345.2(TNNT2):c.719+17A>G
|
|
|
NM_001276345.2(TNNT2):c.719+18T>C
|
|
|
NM_001276345.2(TNNT2):c.719+1G>C
|
rs1169197265
|
|
NM_001276345.2(TNNT2):c.720-10G>A
|
rs2102229886
|
|
NM_001276345.2(TNNT2):c.720-14C>G
|
|
|
NM_001276345.2(TNNT2):c.720-32_720-14dup
|
|
|
NM_001276345.2(TNNT2):c.720-6G>T
|
rs113471285
|
|
NM_001276345.2(TNNT2):c.732G>A (p.Lys244=)
|
|
|
NM_001276345.2(TNNT2):c.734A>G (p.Glu245Gly)
|
rs1658593284
|
|
NM_001276345.2(TNNT2):c.736C>T (p.Leu246=)
|
rs786204407
|
|
NM_001276345.2(TNNT2):c.739T>C (p.Trp247Arg)
|
|
|
NM_001276345.2(TNNT2):c.750C>T (p.Ile250=)
|
rs2102229287
|
|
NM_001276345.2(TNNT2):c.753T>C (p.Tyr251=)
|
|
|
NM_001276345.2(TNNT2):c.764C>T (p.Ala255Val)
|
rs369181536
|
|
NM_001276345.2(TNNT2):c.768G>C (p.Glu256Asp)
|
|
|
NM_001276345.2(TNNT2):c.770A>C (p.Lys257Thr)
|
|
|
NM_001276345.2(TNNT2):c.771G>C (p.Lys257Asn)
|
|
|
NM_001276345.2(TNNT2):c.772T>C (p.Phe258Leu)
|
rs730881110
|
|
NM_001276345.2(TNNT2):c.776A>G (p.Asp259Gly)
|
rs1658581767
|
|
NM_001276345.2(TNNT2):c.779T>A (p.Leu260Gln)
|
rs376037051
|
|
NM_001276345.2(TNNT2):c.780G>A (p.Leu260=)
|
rs1658580183
|
|
NM_001276345.2(TNNT2):c.782A>G (p.Gln261Arg)
|
rs2102228802
|
|
NM_001276345.2(TNNT2):c.789_798delinsCTTGGGT (p.Lys263_Gln266delinsAsnLeuGly)
|
rs1658576787
|
|
NM_001276345.2(TNNT2):c.805T>C (p.Tyr269His)
|
rs730881112
|
|
NM_001276345.2(TNNT2):c.806A>G (p.Tyr269Cys)
|
rs1553280112
|
|
NM_001276345.2(TNNT2):c.807T>C (p.Tyr269=)
|
|
|
NM_001276345.2(TNNT2):c.808G>A (p.Glu270Lys)
|
rs1131691898
|
|
NM_001276345.2(TNNT2):c.810+15T>C
|
rs2102228364
|
|
NM_001276345.2(TNNT2):c.810+18C>T
|
|
|
NM_001276345.2(TNNT2):c.810+7C>T
|
rs373069229
|
|
NM_001276345.2(TNNT2):c.810G>T (p.Glu270Asp)
|
rs1658572329
|
|
NM_001276345.2(TNNT2):c.811-11T>G
|
|
|
NM_001276345.2(TNNT2):c.811-17T>C
|
|
|
NM_001276345.2(TNNT2):c.811-18T>C
|
|
|
NM_001276345.2(TNNT2):c.811-5T>G
|
|
|
NM_001276345.2(TNNT2):c.811-7C>T
|
|
|
NM_001276345.2(TNNT2):c.811-8del
|
|
|
NM_001276345.2(TNNT2):c.817G>A (p.Val273Ile)
|
rs1571590208
|
|
NM_001276345.2(TNNT2):c.818T>C (p.Val273Ala)
|
rs1553279354
|
|
NM_001276345.2(TNNT2):c.818_819insACTCCGAAACAGGATCAACGT (p.Asn279_Asp280insValLeuArgAsnArgIleAsn)
|
|
|
NM_001276345.2(TNNT2):c.823C>A (p.Arg275=)
|
rs748970759
|
|
NM_001276345.2(TNNT2):c.824G>A (p.Arg275Gln)
|
rs730881125
|
|
NM_001276345.2(TNNT2):c.828C>T (p.Asn276=)
|
rs1553279337
|
|
NM_001276345.2(TNNT2):c.834C>T (p.Ile278=)
|
rs1278830616
|
|
NM_001276345.2(TNNT2):c.836A>G (p.Asn279Ser)
|
rs2102217035
|
|
NM_001276345.2(TNNT2):c.838G>A (p.Asp280Asn)
|
rs121964861
|
|
NM_001276345.2(TNNT2):c.838G>T (p.Asp280Tyr)
|
rs121964861
|
|
NM_001276345.2(TNNT2):c.840T>C (p.Asp280=)
|
|
|
NM_001276345.2(TNNT2):c.841A>T (p.Asn281Tyr)
|
rs2102216937
|
|
NM_001276345.2(TNNT2):c.842A>G (p.Asn281Ser)
|
rs863225119
|
|
NM_001276345.2(TNNT2):c.842A>T (p.Asn281Ile)
|
rs863225119
|
|
NM_001276345.2(TNNT2):c.844C>T (p.Gln282Ter)
|
rs796925245
|
|
NM_001276345.2(TNNT2):c.849A>G (p.Lys283=)
|
rs2102216749
|
|
NM_001276345.2(TNNT2):c.851+11G>A
|
|
|
NM_001276345.2(TNNT2):c.851+1G>A
|
rs111377893
|
|
NM_001276345.2(TNNT2):c.851+1G>C
|
rs111377893
|
|
NM_001276345.2(TNNT2):c.851+1G>T
|
rs111377893
|
|
NM_001276345.2(TNNT2):c.851+2dup
|
rs2102216666
|
|
NM_001276345.2(TNNT2):c.851+5G>A
|
rs193922620
|
|
NM_001276345.2(TNNT2):c.851+6T>A
|
|
|
NM_001276345.2(TNNT2):c.851+8T>C
|
|
|
NM_001276345.2(TNNT2):c.851T>C (p.Val284Ala)
|
|
|
NM_001276345.2(TNNT2):c.852-1G>T
|
rs730881114
|
|
NM_001276345.2(TNNT2):c.852-2A>C
|
rs111692981
|
|
NM_001276345.2(TNNT2):c.852-2A>G
|
rs111692981
|
|
NM_001276345.2(TNNT2):c.852-3C>G
|
rs749454768
|
|
NM_001276345.2(TNNT2):c.852-3C>T
|
rs749454768
|
|
NM_001276345.2(TNNT2):c.852-7C>T
|
rs1233814100
|
|
NM_001276345.2(TNNT2):c.852-9C>T
|
|
|
NM_001276345.2(TNNT2):c.861C>G (p.Thr287=)
|
rs754211195
|
|
NM_001276345.2(TNNT2):c.861C>T (p.Thr287=)
|
|
|
NM_001276345.2(TNNT2):c.863G>C (p.Arg288Pro)
|
rs397516484
|
|
NM_001276345.2(TNNT2):c.864C>A (p.Arg288=)
|
|
|
NM_001276345.2(TNNT2):c.865G>A (p.Gly289Arg)
|
rs757664792
|
|
NM_001276345.2(TNNT2):c.865G>C (p.Gly289Arg)
|
rs757664792
|
|
NM_001276345.2(TNNT2):c.866G>A (p.Gly289Glu)
|
rs727505233
|
|
NM_001276345.2(TNNT2):c.868A>G (p.Lys290Glu)
|
|
|
NM_001276345.2(TNNT2):c.870G>A (p.Lys290=)
|
|
|
NM_001276345.2(TNNT2):c.874A>G (p.Lys292Glu)
|
rs1553279043
|
|
NM_001276345.2(TNNT2):c.879C>T (p.Val293=)
|
|
|
NM_001276345.2(TNNT2):c.883G>C (p.Gly295Arg)
|
rs147940106
|
|
NM_001276345.2(TNNT2):c.885G>A (p.Gly295=)
|
rs2102212901
|
|
NM_001276345.2(TNNT2):c.886C>A (p.Arg296Ser)
|
rs367785431
|
|
NM_001276345.2(TNNT2):c.891G>A (p.Trp297Ter)
|
rs730881116
|
|
NM_001276345.2(TNNT2):c.891G>C (p.Trp297Cys)
|
|
|
NM_001276345.2(TNNT2):c.893A>C (p.Lys298Thr)
|
rs770794082
|
|
NM_001276345.2(TNNT2):c.897G>A (p.Ter299=)
|
rs1311267989
|
|
NM_001276345.2(TNNT2):c.97G>A (p.Glu33Lys)
|
rs377474357
|
|
NM_001276345.2(TNNT2):c.98-13T>C
|
|
|
NM_001276345.2(TNNT2):c.98-19G>A
|
|
|
NM_001276345.2(TNNT2):c.98-4C>G
|
rs775895925
|
|
NM_001276345.2(TNNT2):c.98-6C>T
|
rs1335680363
|
|
NM_001276345.2(TNNT2):c.98-9C>A
|
|
|
NM_001308093.3(GATA4):c.*1521C>G
|
rs3203358
|
|
NM_001308093.3(GATA4):c.-2_5del (p.Met1fs)
|
|
|
NM_001308093.3(GATA4):c.1000+12A>G
|
|
|
NM_001308093.3(GATA4):c.1000+17_1000+18del
|
|
|
NM_001308093.3(GATA4):c.1000+19A>G
|
rs2130338672
|
|
NM_001308093.3(GATA4):c.1000+5G>A
|
|
|
NM_001308093.3(GATA4):c.1001-20C>G
|
|
|
NM_001308093.3(GATA4):c.1001-3C>T
|
|
|
NM_001308093.3(GATA4):c.1003C>T (p.Pro335Ser)
|
rs1188397343
|
|
NM_001308093.3(GATA4):c.1014del (p.Ser338fs)
|
rs2130347583
|
|
NM_001308093.3(GATA4):c.1017G>A (p.Glu339=)
|
|
|
NM_001308093.3(GATA4):c.1027C>T (p.Pro343Ser)
|
|
|
NM_001308093.3(GATA4):c.1035C>T (p.Ser345=)
|
rs755482369
|
|
NM_001308093.3(GATA4):c.1042TCCAGCAAC[1] (p.348SSN[1])
|
|
|
NM_001308093.3(GATA4):c.1053C>T (p.Ser351=)
|
|
|
NM_001308093.3(GATA4):c.1065C>T (p.Thr355=)
|
|
|
NM_001308093.3(GATA4):c.1068C>A (p.Thr356=)
|
rs775324602
|
|
NM_001308093.3(GATA4):c.1069A>G (p.Ser357Gly)
|
rs1165825689
|
|
NM_001308093.3(GATA4):c.1069A>T (p.Ser357Cys)
|
rs1165825689
|
|
NM_001308093.3(GATA4):c.106C>T (p.Pro36Ser)
|
|
|
NM_001308093.3(GATA4):c.1076G>C (p.Ser359Thr)
|
rs536598649
|
|
NM_001308093.3(GATA4):c.1077C>G (p.Ser359Arg)
|
|
|
NM_001308093.3(GATA4):c.1078G>T (p.Glu360Ter)
|
rs368489876
|
|
NM_001308093.3(GATA4):c.1081G>C (p.Glu361Gln)
|
rs141808522
|
|
NM_001308093.3(GATA4):c.1089T>A (p.Arg363=)
|
rs143385784
|
|
NM_001308093.3(GATA4):c.1089T>C (p.Arg363=)
|
rs143385784
|
|
NM_001308093.3(GATA4):c.1100C>G (p.Thr367Arg)
|
|
|
NM_001308093.3(GATA4):c.1101G>A (p.Thr367=)
|
rs771381966
|
|
NM_001308093.3(GATA4):c.1101G>C (p.Thr367=)
|
rs771381966
|
|
NM_001308093.3(GATA4):c.1109G>T (p.Gly370Val)
|
rs146685461
|
|
NM_001308093.3(GATA4):c.1112T>G (p.Leu371Arg)
|
|
|
NM_001308093.3(GATA4):c.1116A>T (p.Ser372=)
|
rs112435835
|
|
NM_001308093.3(GATA4):c.111C>A (p.Val37=)
|
rs1585595173
|
|
NM_001308093.3(GATA4):c.1120C>T (p.His374Tyr)
|
|
|
NM_001308093.3(GATA4):c.1123_1125del (p.Tyr375del)
|
rs1585703515
|
|
NM_001308093.3(GATA4):c.1126G>T (p.Gly376Trp)
|
rs149872786
|
|
NM_001308093.3(GATA4):c.1128G>A (p.Gly376=)
|
rs781488882
|
|
NM_001308093.3(GATA4):c.1131C>G (p.His377Gln)
|
rs116414842
|
|
NM_001308093.3(GATA4):c.1136G>A (p.Ser379Asn)
|
|
|
NM_001308093.3(GATA4):c.1147C>G (p.Gln383Glu)
|
|
|
NM_001308093.3(GATA4):c.1149+15T>G
|
|
|
NM_001308093.3(GATA4):c.1149+20C>T
|
|
|
NM_001308093.3(GATA4):c.1149+7G>A
|
rs781457045
|
|
NM_001308093.3(GATA4):c.1149+7G>T
|
rs781457045
|
|
NM_001308093.3(GATA4):c.1149G>C (p.Gln383His)
|
|
|
NM_001308093.3(GATA4):c.1150-14T>C
|
|
|
NM_001308093.3(GATA4):c.1150-18G>A
|
|
|
NM_001308093.3(GATA4):c.1150-18G>C
|
rs751207561
|
|
NM_001308093.3(GATA4):c.1150-20del
|
|
|
NM_001308093.3(GATA4):c.1150-3C>G
|
|
|
NM_001308093.3(GATA4):c.1150-8C>T
|
|
|
NM_001308093.3(GATA4):c.1155C>G (p.Phe385Leu)
|
rs957671450
|
|
NM_001308093.3(GATA4):c.1166C>T (p.Ala389Val)
|
|
|
NM_001308093.3(GATA4):c.1175G>C (p.Gly392Ala)
|
|
|
NM_001308093.3(GATA4):c.1175G>T (p.Gly392Val)
|
rs147093296
|
|
NM_001308093.3(GATA4):c.1178A>C (p.His393Pro)
|
|
|
NM_001308093.3(GATA4):c.1178A>G (p.His393Arg)
|
rs766572598
|
|
NM_001308093.3(GATA4):c.1178A>T (p.His393Leu)
|
|
|
NM_001308093.3(GATA4):c.1188C>A (p.Ser396=)
|
|
|
NM_001308093.3(GATA4):c.1188C>T (p.Ser396=)
|
|
|
NM_001308093.3(GATA4):c.1198G>C (p.Val400Leu)
|
|
|
NM_001308093.3(GATA4):c.1198G>T (p.Val400Phe)
|
|
|
NM_001308093.3(GATA4):c.1199T>C (p.Val400Ala)
|
rs2130355308
|
|
NM_001308093.3(GATA4):c.11G>A (p.Ser4Asn)
|
|
|
NM_001308093.3(GATA4):c.1201C>G (p.Leu401Val)
|
|
|
NM_001308093.3(GATA4):c.1208C>A (p.Ala403Asp)
|
rs1563234610
|
|
NM_001308093.3(GATA4):c.1209C>T (p.Ala403=)
|
rs2130355423
|
|
NM_001308093.3(GATA4):c.1210C>A (p.Leu404Met)
|
|
|
NM_001308093.3(GATA4):c.1218C>T (p.Leu406=)
|
|
|
NM_001308093.3(GATA4):c.1221C>G (p.Ser407=)
|
rs2130355480
|
|
NM_001308093.3(GATA4):c.1222C>G (p.Pro408Ala)
|
rs1585706968
|
|
NM_001308093.3(GATA4):c.1223C>G (p.Pro408Arg)
|
rs115099192
|
|
NM_001308093.3(GATA4):c.1224A>G (p.Pro408=)
|
|
|
NM_001308093.3(GATA4):c.1225C>T (p.Gln409Ter)
|
rs1802712072
|
|
NM_001308093.3(GATA4):c.1232A>G (p.Tyr411Cys)
|
|
|
NM_001308093.3(GATA4):c.1232A>T (p.Tyr411Phe)
|
rs909187176
|
|
NM_001308093.3(GATA4):c.1241C>G (p.Pro414Arg)
|
|
|
NM_001308093.3(GATA4):c.1243G>C (p.Val415Leu)
|
|
|
NM_001308093.3(GATA4):c.1254T>C (p.Ser418=)
|
rs1060503828
|
|
NM_001308093.3(GATA4):c.125C>G (p.Pro42Arg)
|
rs766590532
|
|
NM_001308093.3(GATA4):c.125C>T (p.Pro42Leu)
|
|
|
NM_001308093.3(GATA4):c.1268C>G (p.Ser423Cys)
|
rs1343825404
|
|
NM_001308093.3(GATA4):c.1285A>C (p.Asn429His)
|
rs1286668690
|
|
NM_001308093.3(GATA4):c.1286A>G (p.Asn429Ser)
|
rs76332456
|
|
NM_001308093.3(GATA4):c.1289G>A (p.Ser430Asn)
|
|
|
NM_001308093.3(GATA4):c.1296C>G (p.Val432=)
|
|
|
NM_001308093.3(GATA4):c.129G>A (p.Arg43=)
|
rs1563199849
|
|
NM_001308093.3(GATA4):c.129G>T (p.Arg43=)
|
rs1563199849
|
|
NM_001308093.3(GATA4):c.12C>A (p.Ser4Arg)
|
|
|
NM_001308093.3(GATA4):c.12C>T (p.Ser4=)
|
|
|
NM_001308093.3(GATA4):c.1302C>T (p.Ala434=)
|
|
|
NM_001308093.3(GATA4):c.1308T>A (p.Ser436Arg)
|
|
|
NM_001308093.3(GATA4):c.1311C>G (p.His437Gln)
|
rs779684582
|
|
NM_001308093.3(GATA4):c.1312G>A (p.Gly438Arg)
|
rs748737164
|
|
NM_001308093.3(GATA4):c.1314G>A (p.Gly438=)
|
|
|
NM_001308093.3(GATA4):c.1315G>C (p.Asp439His)
|
rs149351193
|
|
NM_001308093.3(GATA4):c.1318A>T (p.Ile440Leu)
|
rs772619099
|
|
NM_001308093.3(GATA4):c.1321A>G (p.Ile441Val)
|
rs2130356211
|
|
NM_001308093.3(GATA4):c.1328C>G (p.Ala443Gly)
|
rs146017816
|
|
NM_001308093.3(GATA4):c.1328C>T (p.Ala443Val)
|
rs146017816
|
|
NM_001308093.3(GATA4):c.135C>G (p.Pro45=)
|
rs1297614525
|
|
NM_001308093.3(GATA4):c.143T>C (p.Val48Ala)
|
rs1272999942
|
|
NM_001308093.3(GATA4):c.148G>C (p.Gly50Arg)
|
|
|
NM_001308093.3(GATA4):c.149G>C (p.Gly50Ala)
|
rs570058215
|
|
NM_001308093.3(GATA4):c.151C>T (p.Leu51=)
|
|
|
NM_001308093.3(GATA4):c.174C>A (p.Gly58=)
|
|
|
NM_001308093.3(GATA4):c.174C>T (p.Gly58=)
|
|
|
NM_001308093.3(GATA4):c.175G>A (p.Ala59Thr)
|
|
|
NM_001308093.3(GATA4):c.177G>A (p.Ala59=)
|
|
|
NM_001308093.3(GATA4):c.179G>C (p.Gly60Ala)
|
|
|
NM_001308093.3(GATA4):c.182C>T (p.Ser61Phe)
|
|
|
NM_001308093.3(GATA4):c.183T>C (p.Ser61=)
|
|
|
NM_001308093.3(GATA4):c.186G>A (p.Ala62=)
|
rs1466381420
|
|
NM_001308093.3(GATA4):c.191G>A (p.Gly64Glu)
|
|
|
NM_001308093.3(GATA4):c.191G>T (p.Gly64Val)
|
|
|
NM_001308093.3(GATA4):c.195C>A (p.Gly65=)
|
|
|
NM_001308093.3(GATA4):c.200C>T (p.Ser67Leu)
|
|
|
NM_001308093.3(GATA4):c.204C>A (p.Gly68=)
|
rs1800003368
|
|
NM_001308093.3(GATA4):c.205G>A (p.Gly69Ser)
|
|
|
NM_001308093.3(GATA4):c.205G>T (p.Gly69Cys)
|
|
|
NM_001308093.3(GATA4):c.218G>T (p.Gly73Val)
|
|
|
NM_001308093.3(GATA4):c.219G>C (p.Gly73=)
|
rs1057052962
|
|
NM_001308093.3(GATA4):c.219G>T (p.Gly73=)
|
|
|
NM_001308093.3(GATA4):c.221C>A (p.Ala74Asp)
|
|
|
NM_001308093.3(GATA4):c.222C>A (p.Ala74=)
|
|
|
NM_001308093.3(GATA4):c.222C>G (p.Ala74=)
|
|
|
NM_001308093.3(GATA4):c.22G>T (p.Ala8Ser)
|
rs1386678141
|
|
NM_001308093.3(GATA4):c.230G>T (p.Gly77Val)
|
|
|
NM_001308093.3(GATA4):c.232G>T (p.Ala78Ser)
|
|
|
NM_001308093.3(GATA4):c.236G>C (p.Gly79Ala)
|
|
|
NM_001308093.3(GATA4):c.236G>T (p.Gly79Val)
|
|
|
NM_001308093.3(GATA4):c.243G>C (p.Gly81=)
|
|
|
NM_001308093.3(GATA4):c.246C>G (p.Thr82=)
|
rs1037655842
|
|
NM_001308093.3(GATA4):c.248A>C (p.Gln83Pro)
|
|
|
NM_001308093.3(GATA4):c.24C>G (p.Ala8=)
|
|
|
NM_001308093.3(GATA4):c.24C>T (p.Ala8=)
|
|
|
NM_001308093.3(GATA4):c.251A>G (p.Gln84Arg)
|
rs899093640
|
|
NM_001308093.3(GATA4):c.253G>T (p.Gly85Cys)
|
|
|
NM_001308093.3(GATA4):c.259C>G (p.Pro87Ala)
|
|
|
NM_001308093.3(GATA4):c.266G>A (p.Trp89Ter)
|
rs2130068999
|
|
NM_001308093.3(GATA4):c.270C>T (p.Ser90=)
|
|
|
NM_001308093.3(GATA4):c.270_271delinsTA (p.Gln91Lys)
|
rs2130069025
|
|
NM_001308093.3(GATA4):c.273G>A (p.Gln91=)
|
rs1585595804
|
|
NM_001308093.3(GATA4):c.274G>A (p.Ala92Thr)
|
|
|
NM_001308093.3(GATA4):c.275C>A (p.Ala92Glu)
|
|
|
NM_001308093.3(GATA4):c.276G>A (p.Ala92=)
|
|
|
NM_001308093.3(GATA4):c.286G>A (p.Gly96Arg)
|
rs2130069132
|
|
NM_001308093.3(GATA4):c.290C>T (p.Ala97Val)
|
|
|
NM_001308093.3(GATA4):c.292G>A (p.Ala98Thr)
|
|
|
NM_001308093.3(GATA4):c.300C>A (p.Thr100=)
|
rs1585595889
|
|
NM_001308093.3(GATA4):c.302C>T (p.Pro101Leu)
|
rs1800009411
|
|
NM_001308093.3(GATA4):c.303G>A (p.Pro101=)
|
rs1585595911
|
|
NM_001308093.3(GATA4):c.306G>T (p.Pro102=)
|
rs1336667597
|
|
NM_001308093.3(GATA4):c.307C>G (p.Pro103Ala)
|
|
|
NM_001308093.3(GATA4):c.308C>G (p.Pro103Arg)
|
rs2130069373
|
|
NM_001308093.3(GATA4):c.309G>T (p.Pro103=)
|
|
|
NM_001308093.3(GATA4):c.310G>C (p.Val104Leu)
|
|
|
NM_001308093.3(GATA4):c.315G>A (p.Ser105=)
|
rs1329688744
|
|
NM_001308093.3(GATA4):c.316C>G (p.Pro106Ala)
|
rs2130069427
|
|
NM_001308093.3(GATA4):c.317C>A (p.Pro106Gln)
|
|
|
NM_001308093.3(GATA4):c.317C>G (p.Pro106Arg)
|
|
|
NM_001308093.3(GATA4):c.31C>A (p.His11Asn)
|
rs1350855665
|
|
NM_001308093.3(GATA4):c.321C>G (p.Arg107=)
|
|
|
NM_001308093.3(GATA4):c.326C>G (p.Ser109Cys)
|
rs1554488532
|
|
NM_001308093.3(GATA4):c.32A>C (p.His11Pro)
|
|
|
NM_001308093.3(GATA4):c.330C>A (p.Phe110Leu)
|
rs779273192
|
|
NM_001308093.3(GATA4):c.333G>A (p.Pro111=)
|
rs1331416104
|
|
NM_001308093.3(GATA4):c.335G>C (p.Gly112Ala)
|
|
|
NM_001308093.3(GATA4):c.342C>T (p.Thr114=)
|
|
|
NM_001308093.3(GATA4):c.343G>T (p.Gly115Trp)
|
rs1488801698
|
|
NM_001308093.3(GATA4):c.347C>T (p.Ser116Phe)
|
|
|
NM_001308093.3(GATA4):c.34G>T (p.Gly12Trp)
|
|
|
NM_001308093.3(GATA4):c.357C>G (p.Ala119=)
|
rs2130069809
|
|
NM_001308093.3(GATA4):c.357CGC[2] (p.Ala125_Ala126del)
|
rs1182566703
|
|
NM_001308093.3(GATA4):c.357CGC[5] (p.Ala126dup)
|
rs1182566703
|
|
NM_001308093.3(GATA4):c.358_393dup (p.Ala120_Ala131dup)
|
rs1800012863
|
|
NM_001308093.3(GATA4):c.360_374dup (p.Ala126_Arg127insAlaAlaAlaAlaAla)
|
|
|
NM_001308093.3(GATA4):c.366C>A (p.Ala122=)
|
|
|
NM_001308093.3(GATA4):c.366C>T (p.Ala122=)
|
rs1471365872
|
|
NM_001308093.3(GATA4):c.367G>C (p.Ala123Pro)
|
|
|
NM_001308093.3(GATA4):c.368C>G (p.Ala123Gly)
|
|
|
NM_001308093.3(GATA4):c.369T>C (p.Ala123=)
|
|
|
NM_001308093.3(GATA4):c.369T>G (p.Ala123=)
|
|
|
NM_001308093.3(GATA4):c.369_374dup (p.Ala125_Ala126dup)
|
rs1462657175
|
|
NM_001308093.3(GATA4):c.36G>A (p.Gly12=)
|
|
|
NM_001308093.3(GATA4):c.378C>T (p.Ala126=)
|
|
|
NM_001308093.3(GATA4):c.385G>A (p.Ala129Thr)
|
|
|
NM_001308093.3(GATA4):c.387T>A (p.Ala129=)
|
|
|
NM_001308093.3(GATA4):c.390G>A (p.Ala130=)
|
rs2130070163
|
|
NM_001308093.3(GATA4):c.395A>G (p.Tyr132Cys)
|
|
|
NM_001308093.3(GATA4):c.399C>A (p.Ser133Arg)
|
rs1362379796
|
|
NM_001308093.3(GATA4):c.400A>G (p.Ser134Gly)
|
|
|
NM_001308093.3(GATA4):c.400A>T (p.Ser134Cys)
|
rs1295769704
|
|
NM_001308093.3(GATA4):c.404G>T (p.Gly135Val)
|
|
|
NM_001308093.3(GATA4):c.406G>C (p.Gly136Arg)
|
rs1161266023
|
|
NM_001308093.3(GATA4):c.409G>T (p.Gly137Ter)
|
|
|
NM_001308093.3(GATA4):c.413C>A (p.Ala138Glu)
|
|
|
NM_001308093.3(GATA4):c.413C>T (p.Ala138Val)
|
|
|
NM_001308093.3(GATA4):c.416C>T (p.Ala139Val)
|
|
|
NM_001308093.3(GATA4):c.419G>T (p.Gly140Val)
|
|
|
NM_001308093.3(GATA4):c.423G>A (p.Ala141=)
|
rs1404734578
|
|
NM_001308093.3(GATA4):c.424G>A (p.Gly142Ser)
|
rs1585596441
|
|
NM_001308093.3(GATA4):c.427C>T (p.Leu143=)
|
rs2130070594
|
|
NM_001308093.3(GATA4):c.428_436dup (p.Leu143_Gly145dup)
|
rs2130070508
|
|
NM_001308093.3(GATA4):c.429G>C (p.Leu143=)
|
|
|
NM_001308093.3(GATA4):c.430G>A (p.Ala144Thr)
|
|
|
NM_001308093.3(GATA4):c.432G>T (p.Ala144=)
|
rs1356013644
|
|
NM_001308093.3(GATA4):c.438C>G (p.Arg146=)
|
|
|
NM_001308093.3(GATA4):c.439G>A (p.Glu147Lys)
|
rs1800019519
|
|
NM_001308093.3(GATA4):c.43C>T (p.Pro15Ser)
|
rs1799990782
|
|
NM_001308093.3(GATA4):c.441G>A (p.Glu147=)
|
rs1800019637
|
|
NM_001308093.3(GATA4):c.443A>C (p.Gln148Pro)
|
rs1800019742
|
|
NM_001308093.3(GATA4):c.443A>T (p.Gln148Leu)
|
rs1800019742
|
|
NM_001308093.3(GATA4):c.444G>A (p.Gln148=)
|
rs1352635163
|
|
NM_001308093.3(GATA4):c.448G>A (p.Gly150Arg)
|
|
|
NM_001308093.3(GATA4):c.448G>C (p.Gly150Arg)
|
|
|
NM_001308093.3(GATA4):c.451C>A (p.Arg151Ser)
|
|
|
NM_001308093.3(GATA4):c.454_455delinsTT (p.Ala152Phe)
|
rs1800020370
|
|
NM_001308093.3(GATA4):c.456C>T (p.Ala152=)
|
|
|
NM_001308093.3(GATA4):c.465G>A (p.Ala155=)
|
|
|
NM_001308093.3(GATA4):c.474C>T (p.Tyr158=)
|
|
|
NM_001308093.3(GATA4):c.476C>A (p.Ser159Tyr)
|
|
|
NM_001308093.3(GATA4):c.480C>T (p.Ser160=)
|
rs2130071100
|
|
NM_001308093.3(GATA4):c.48_71del (p.Tyr18_Ala25del)
|
rs1453901762
|
|
NM_001308093.3(GATA4):c.495C>T (p.Tyr165=)
|
|
|
NM_001308093.3(GATA4):c.496A>G (p.Met166Val)
|
|
|
NM_001308093.3(GATA4):c.499G>A (p.Ala167Thr)
|
|
|
NM_001308093.3(GATA4):c.500C>T (p.Ala167Val)
|
|
|
NM_001308093.3(GATA4):c.501C>G (p.Ala167=)
|
|
|
NM_001308093.3(GATA4):c.508G>C (p.Gly170Arg)
|
rs1800024355
|
|
NM_001308093.3(GATA4):c.512C>G (p.Ala171Gly)
|
|
|
NM_001308093.3(GATA4):c.516C>T (p.Ser172=)
|
|
|
NM_001308093.3(GATA4):c.525A>T (p.Ala175=)
|
|
|
NM_001308093.3(GATA4):c.525_530dup (p.Ala178_Ala179dup)
|
rs1554488651
|
|
NM_001308093.3(GATA4):c.525_533dup (p.Ala177_Ala179dup)
|
rs1372778585
|
|
NM_001308093.3(GATA4):c.526GCC[1] (p.Ala177_Ala179del)
|
rs766802125
|
|
NM_001308093.3(GATA4):c.526GCC[5] (p.Ala179_Ser180insAla)
|
|
|
NM_001308093.3(GATA4):c.526GCC[7] (p.Ala177_Ala179dup)
|
rs766802125
|
|
NM_001308093.3(GATA4):c.529G>A (p.Ala177Thr)
|
|
|
NM_001308093.3(GATA4):c.532G>A (p.Ala178Thr)
|
|
|
NM_001308093.3(GATA4):c.532G>T (p.Ala178Ser)
|
rs1800026498
|
|
NM_001308093.3(GATA4):c.533C>T (p.Ala178Val)
|
rs1229035049
|
|
NM_001308093.3(GATA4):c.538_543dup (p.Ser180_Ala181dup)
|
rs1800026723
|
|
NM_001308093.3(GATA4):c.542C>T (p.Ala181Val)
|
rs1800027233
|
|
NM_001308093.3(GATA4):c.543C>A (p.Ala181=)
|
rs544097659
|
|
NM_001308093.3(GATA4):c.543C>G (p.Ala181=)
|
rs544097659
|
|
NM_001308093.3(GATA4):c.543C>T (p.Ala181=)
|
rs544097659
|
|
NM_001308093.3(GATA4):c.545G>A (p.Gly182Asp)
|
rs1800027591
|
|
NM_001308093.3(GATA4):c.546C>T (p.Gly182=)
|
rs2130071849
|
|
NM_001308093.3(GATA4):c.548C>T (p.Pro183Leu)
|
|
|
NM_001308093.3(GATA4):c.54C>A (p.Tyr18Ter)
|
rs1799991762
|
|
NM_001308093.3(GATA4):c.54C>G (p.Tyr18Ter)
|
rs1799991762
|
|
NM_001308093.3(GATA4):c.552C>T (p.Phe184=)
|
|
|
NM_001308093.3(GATA4):c.560C>G (p.Pro187Arg)
|
|
|
NM_001308093.3(GATA4):c.560C>T (p.Pro187Leu)
|
rs1800028058
|
|
NM_001308093.3(GATA4):c.561G>A (p.Pro187=)
|
|
|
NM_001308093.3(GATA4):c.561G>T (p.Pro187=)
|
|
|
NM_001308093.3(GATA4):c.567G>A (p.Leu189=)
|
rs1554488672
|
|
NM_001308093.3(GATA4):c.577C>T (p.Pro193Ser)
|
rs1392529691
|
|
NM_001308093.3(GATA4):c.584G>C (p.Arg195Pro)
|
rs1334859780
|
|
NM_001308093.3(GATA4):c.586G>C (p.Ala196Pro)
|
|
|
NM_001308093.3(GATA4):c.590A>T (p.Asn197Ile)
|
rs1050253618
|
|
NM_001308093.3(GATA4):c.594G>T (p.Pro198=)
|
rs1213779475
|
|
NM_001308093.3(GATA4):c.597C>G (p.Ala199=)
|
|
|
NM_001308093.3(GATA4):c.601C>A (p.Arg201=)
|
|
|
NM_001308093.3(GATA4):c.603A>G (p.Arg201=)
|
|
|
NM_001308093.3(GATA4):c.607C>T (p.Pro203Ser)
|
|
|
NM_001308093.3(GATA4):c.615C>T (p.Leu205=)
|
|
|
NM_001308093.3(GATA4):c.616+10A>C
|
|
|
NM_001308093.3(GATA4):c.616+15G>C
|
rs767068839
|
|
NM_001308093.3(GATA4):c.616+17G>C
|
|
|
NM_001308093.3(GATA4):c.616+3G>A
|
rs1800033657
|
|
NM_001308093.3(GATA4):c.617-12C>A
|
rs763950464
|
|
NM_001308093.3(GATA4):c.617-13C>T
|
|
|
NM_001308093.3(GATA4):c.623T>A (p.Met208Lys)
|
rs140892695
|
|
NM_001308093.3(GATA4):c.629A>T (p.Asp210Val)
|
|
|
NM_001308093.3(GATA4):c.631G>T (p.Asp211Tyr)
|
rs377673676
|
|
NM_001308093.3(GATA4):c.635_637del (p.Phe212del)
|
|
|
NM_001308093.3(GATA4):c.638C>T (p.Ser213Leu)
|
|
|
NM_001308093.3(GATA4):c.639A>C (p.Ser213=)
|
|
|
NM_001308093.3(GATA4):c.63C>G (p.Gly21=)
|
|
|
NM_001308093.3(GATA4):c.64G>T (p.Gly22Cys)
|
|
|
NM_001308093.3(GATA4):c.655_656del (p.Val219fs)
|
|
|
NM_001308093.3(GATA4):c.657C>T (p.Val219=)
|
|
|
NM_001308093.3(GATA4):c.65G>T (p.Gly22Val)
|
|
|
NM_001308093.3(GATA4):c.667G>A (p.Ala223Thr)
|
rs1585684709
|
|
NM_001308093.3(GATA4):c.678C>A (p.Thr226=)
|
|
|
NM_001308093.3(GATA4):c.67C>T (p.Pro23Ser)
|
|
|
NM_001308093.3(GATA4):c.680C>T (p.Pro227Leu)
|
rs2130306950
|
|
NM_001308093.3(GATA4):c.681G>A (p.Pro227=)
|
|
|
NM_001308093.3(GATA4):c.684C>G (p.Leu228=)
|
rs1563227410
|
|
NM_001308093.3(GATA4):c.692G>A (p.Arg231Gln)
|
|
|
NM_001308093.3(GATA4):c.699G>C (p.Gly233=)
|
rs2130307080
|
|
NM_001308093.3(GATA4):c.702G>A (p.Thr234=)
|
rs55788387
|
|
NM_001308093.3(GATA4):c.702G>C (p.Thr234=)
|
rs55788387
|
|
NM_001308093.3(GATA4):c.70G>A (p.Gly24Ser)
|
|
|
NM_001308093.3(GATA4):c.716G>T (p.Cys239Phe)
|
|
|
NM_001308093.3(GATA4):c.72C>T (p.Gly24=)
|
|
|
NM_001308093.3(GATA4):c.730C>G (p.Leu244Val)
|
|
|
NM_001308093.3(GATA4):c.743T>C (p.Met248Thr)
|
rs1131691325
|
|
NM_001308093.3(GATA4):c.747C>A (p.Asn249Lys)
|
rs140212153
|
|
NM_001308093.3(GATA4):c.748G>T (p.Gly250Cys)
|
rs1431297203
|
|
NM_001308093.3(GATA4):c.761C>T (p.Pro254Leu)
|
rs771792843
|
|
NM_001308093.3(GATA4):c.765C>T (p.Leu255=)
|
|
|
NM_001308093.3(GATA4):c.766A>G (p.Ile256Val)
|
rs914253048
|
|
NM_001308093.3(GATA4):c.773C>G (p.Pro258Arg)
|
|
|
NM_001308093.3(GATA4):c.778C>G (p.Arg260Gly)
|
rs1437389442
|
|
NM_001308093.3(GATA4):c.778C>T (p.Arg260Cys)
|
rs1437389442
|
|
NM_001308093.3(GATA4):c.779G>A (p.Arg260His)
|
rs1188422407
|
|
NM_001308093.3(GATA4):c.781C>T (p.Arg261Trp)
|
|
|
NM_001308093.3(GATA4):c.786+10T>G
|
|
|
NM_001308093.3(GATA4):c.786+17C>T
|
|
|
NM_001308093.3(GATA4):c.786+9G>A
|
|
|
NM_001308093.3(GATA4):c.786+9G>T
|
rs752147603
|
|
NM_001308093.3(GATA4):c.787-11C>T
|
rs1802226812
|
|
NM_001308093.3(GATA4):c.787-20A>G
|
rs2130312704
|
|
NM_001308093.3(GATA4):c.790G>T (p.Ala264Ser)
|
rs201520087
|
|
NM_001308093.3(GATA4):c.794C>G (p.Ser265Cys)
|
rs1563228364
|
|
NM_001308093.3(GATA4):c.797G>A (p.Arg266His)
|
|
|
NM_001308093.3(GATA4):c.802G>C (p.Val268Leu)
|
rs116781972
|
|
NM_001308093.3(GATA4):c.82C>T (p.His28Tyr)
|
|
|
NM_001308093.3(GATA4):c.830C>G (p.Thr277Ser)
|
|
|
NM_001308093.3(GATA4):c.832A>G (p.Thr278Ala)
|
|
|
NM_001308093.3(GATA4):c.840C>T (p.Thr280=)
|
rs141114164
|
|
NM_001308093.3(GATA4):c.842C>T (p.Thr281Met)
|
rs387906771
|
|
NM_001308093.3(GATA4):c.846G>C (p.Leu282=)
|
|
|
NM_001308093.3(GATA4):c.84C>T (p.His28=)
|
|
|
NM_001308093.3(GATA4):c.851G>A (p.Arg284His)
|
rs180765750
|
|
NM_001308093.3(GATA4):c.852C>G (p.Arg284=)
|
|
|
NM_001308093.3(GATA4):c.853C>T (p.Arg285Cys)
|
|
|
NM_001308093.3(GATA4):c.854G>A (p.Arg285His)
|
rs2130313276
|
|
NM_001308093.3(GATA4):c.858T>C (p.Asn286=)
|
|
|
NM_001308093.3(GATA4):c.868G>A (p.Glu290Lys)
|
|
|
NM_001308093.3(GATA4):c.879C>G (p.Cys293Trp)
|
rs2130313407
|
|
NM_001308093.3(GATA4):c.879C>T (p.Cys293=)
|
rs2130313407
|
|
NM_001308093.3(GATA4):c.887G>C (p.Cys296Ser)
|
|
|
NM_001308093.3(GATA4):c.89C>T (p.Ala30Val)
|
|
|
NM_001308093.3(GATA4):c.903G>A (p.Lys301=)
|
rs1585687961
|
|
NM_001308093.3(GATA4):c.912+11C>T
|
|
|
NM_001308093.3(GATA4):c.912+17C>T
|
|
|
NM_001308093.3(GATA4):c.912+19C>G
|
|
|
NM_001308093.3(GATA4):c.912+19C>T
|
|
|
NM_001308093.3(GATA4):c.912+4C>A
|
|
|
NM_001308093.3(GATA4):c.912+4C>T
|
rs374161282
|
|
NM_001308093.3(GATA4):c.912+5G>T
|
rs371005520
|
|
NM_001308093.3(GATA4):c.912+7G>C
|
|
|
NM_001308093.3(GATA4):c.912+9G>A
|
|
|
NM_001308093.3(GATA4):c.913-14T>C
|
|
|
NM_001308093.3(GATA4):c.913-16A>C
|
|
|
NM_001308093.3(GATA4):c.913-16A>G
|
rs1802484971
|
|
NM_001308093.3(GATA4):c.913-18T>G
|
|
|
NM_001308093.3(GATA4):c.913-19T>A
|
|
|
NM_001308093.3(GATA4):c.913-3C>T
|
|
|
NM_001308093.3(GATA4):c.913-4C>T
|
rs947982256
|
|
NM_001308093.3(GATA4):c.913-8C>A
|
|
|
NM_001308093.3(GATA4):c.920G>A (p.Arg307Lys)
|
rs1554498327
|
|
NM_001308093.3(GATA4):c.921G>A (p.Arg307=)
|
|
|
NM_001308093.3(GATA4):c.923C>G (p.Pro308Arg)
|
|
|
NM_001308093.3(GATA4):c.923C>T (p.Pro308Leu)
|
|
|
NM_001308093.3(GATA4):c.931A>C (p.Met311Leu)
|
rs387906772
|
|
NM_001308093.3(GATA4):c.934C>A (p.Arg312=)
|
rs138404762
|
|
NM_001308093.3(GATA4):c.934C>T (p.Arg312Trp)
|
rs138404762
|
|
NM_001308093.3(GATA4):c.935G>A (p.Arg312Gln)
|
rs1585698628
|
|
NM_001308093.3(GATA4):c.93C>A (p.Gly31=)
|
|
|
NM_001308093.3(GATA4):c.949C>G (p.Gln317Glu)
|
rs56298569
|
|
NM_001308093.3(GATA4):c.956G>A (p.Arg319Lys)
|
rs1554498346
|
|
NM_001308093.3(GATA4):c.961C>T (p.Arg321Trp)
|
rs1282433424
|
|
NM_001308093.3(GATA4):c.962G>A (p.Arg321Gln)
|
rs2130338262
|
|
NM_001308093.3(GATA4):c.963G>A (p.Arg321=)
|
rs2130338269
|
|
NM_001308093.3(GATA4):c.966G>A (p.Lys322=)
|
rs995668697
|
|
NM_001308093.3(GATA4):c.973A>G (p.Asn325Asp)
|
rs2130338330
|
|
NM_001308093.3(GATA4):c.978G>T (p.Leu326=)
|
rs939153862
|
|
NM_001308093.3(GATA4):c.990G>C (p.Lys330Asn)
|
|
|
NM_001308093.3(GATA4):c.991A>T (p.Thr331Ser)
|
|
|
NM_001308093.3(GATA4):c.992C>G (p.Thr331Arg)
|
rs1563231799
|
|
NM_001308093.3(GATA4):c.999A>C (p.Ala333=)
|
rs1554498361
|
|
NM_001386795.1(DTNA):c.1001+10C>A
|
rs2095698605
|
|
NM_001386795.1(DTNA):c.1001+12T>C
|
|
|
NM_001386795.1(DTNA):c.1001+7A>G
|
rs2149448019
|
|
NM_001386795.1(DTNA):c.1002-19A>G
|
|
|
NM_001386795.1(DTNA):c.1002-2312T>C
|
|
|
NM_001386795.1(DTNA):c.1002-2319T>C
|
|
|
NM_001386795.1(DTNA):c.1002-2337G>A
|
|
|
NM_001386795.1(DTNA):c.1002-2340T>G
|
|
|
NM_001386795.1(DTNA):c.1002-7_1002-3del
|
|
|
NM_001386795.1(DTNA):c.1011A>C (p.Arg337Ser)
|
rs2095889742
|
|
NM_001386795.1(DTNA):c.1028A>G (p.Asn343Ser)
|
rs774372435
|
|
NM_001386795.1(DTNA):c.1028A>T (p.Asn343Ile)
|
rs774372435
|
|
NM_001386795.1(DTNA):c.102C>T (p.Thr34=)
|
|
|
NM_001386795.1(DTNA):c.104A>G (p.Tyr35Cys)
|
|
|
NM_001386795.1(DTNA):c.1051G>A (p.Val351Ile)
|
|
|
NM_001386795.1(DTNA):c.1085+11A>G
|
rs2149544048
|
|
NM_001386795.1(DTNA):c.1085+19A>T
|
|
|
NM_001386795.1(DTNA):c.114A>T (p.Ala38=)
|
rs1005316955
|
|
NM_001386795.1(DTNA):c.1176-10T>C
|
rs2149710302
|
|
NM_001386795.1(DTNA):c.1176-12C>T
|
|
|
NM_001386795.1(DTNA):c.1176-2A>G
|
|
|
NM_001386795.1(DTNA):c.1178C>G (p.Ser393Cys)
|
|
|
NM_001386795.1(DTNA):c.1179T>G (p.Ser393=)
|
|
|
NM_001386795.1(DTNA):c.117C>A (p.Cys39Ter)
|
|
|
NM_001386795.1(DTNA):c.1209C>T (p.Asn403=)
|
rs1603062913
|
|
NM_001386795.1(DTNA):c.1231C>G (p.Pro411Ala)
|
|
|
NM_001386795.1(DTNA):c.1248C>T (p.Gly416=)
|
|
|
NM_001386795.1(DTNA):c.1249A>G (p.Lys417Glu)
|
rs2149711494
|
|
NM_001386795.1(DTNA):c.1253+18_1253+19delinsGT
|
|
|
NM_001386795.1(DTNA):c.1253+9C>T
|
|
|
NM_001386795.1(DTNA):c.1254-9C>T
|
|
|
NM_001386795.1(DTNA):c.1254-9_1254-8del
|
rs1568718398
|
|
NM_001386795.1(DTNA):c.1260G>T (p.Gln420His)
|
rs1603075327
|
|
NM_001386795.1(DTNA):c.1289C>T (p.Ala430Val)
|
rs375890182
|
|
NM_001386795.1(DTNA):c.1317T>C (p.Tyr439=)
|
|
|
NM_001386795.1(DTNA):c.1331G>A (p.Arg444Gln)
|
|
|
NM_001386795.1(DTNA):c.1343C>A (p.Ser448Ter)
|
rs2096209809
|
|
NM_001386795.1(DTNA):c.1343C>T (p.Ser448Leu)
|
|
|
NM_001386795.1(DTNA):c.1344A>C (p.Ser448=)
|
|
|
NM_001386795.1(DTNA):c.1347-19_1347-17del
|
|
|
NM_001386795.1(DTNA):c.1347-2A>T
|
rs2149869841
|
|
NM_001386795.1(DTNA):c.1347-6T>C
|
|
|
NM_001386795.1(DTNA):c.1347C>T (p.Cys449=)
|
|
|
NM_001386795.1(DTNA):c.1349T>C (p.Met450Thr)
|
rs956944215
|
|
NM_001386795.1(DTNA):c.1355A>G (p.Glu452Gly)
|
|
|
NM_001386795.1(DTNA):c.1414G>A (p.Ala472Thr)
|
rs2096417016
|
|
NM_001386795.1(DTNA):c.1428T>C (p.Ser476=)
|
rs2149870918
|
|
NM_001386795.1(DTNA):c.1435-3C>T
|
|
|
NM_001386795.1(DTNA):c.1442C>A (p.Pro481His)
|
rs1354941224
|
|
NM_001386795.1(DTNA):c.148+1G>A
|
|
|
NM_001386795.1(DTNA):c.1483G>A (p.Ala495Thr)
|
|
|
NM_001386795.1(DTNA):c.148T>G (p.Leu50Val)
|
rs1555778803
|
|
NM_001386795.1(DTNA):c.1498A>T (p.Arg500Trp)
|
|
|
NM_001386795.1(DTNA):c.1529A>G (p.Asn510Ser)
|
rs1270254305
|
|
NM_001386795.1(DTNA):c.1532+18T>A
|
|
|
NM_001386795.1(DTNA):c.1532+18T>C
|
rs115712655
|
|
NM_001386795.1(DTNA):c.1532+1G>T
|
|
|
NM_001386795.1(DTNA):c.1532+7C>T
|
|
|
NM_001386795.1(DTNA):c.153C>T (p.His51=)
|
rs756884885
|
|
NM_001386795.1(DTNA):c.1560T>C (p.Leu520=)
|
|
|
NM_001386795.1(DTNA):c.1566A>G (p.Leu522=)
|
|
|
NM_001386795.1(DTNA):c.1572T>C (p.His524=)
|
|
|
NM_001386795.1(DTNA):c.1589C>A (p.Pro530His)
|
|
|
NM_001386795.1(DTNA):c.15T>A (p.Ser5Arg)
|
|
|
NM_001386795.1(DTNA):c.15T>C (p.Ser5=)
|
rs964404879
|
|
NM_001386795.1(DTNA):c.1619C>T (p.Thr540Ile)
|
|
|
NM_001386795.1(DTNA):c.1637G>T (p.Arg546Leu)
|
rs773504046
|
|
NM_001386795.1(DTNA):c.163A>G (p.Ile55Val)
|
rs1487690122
|
|
NM_001386795.1(DTNA):c.1646+11G>C
|
|
|
NM_001386795.1(DTNA):c.1646+13A>G
|
|
|
NM_001386795.1(DTNA):c.1646+17A>T
|
rs376948940
|
|
NM_001386795.1(DTNA):c.1646+18T>C
|
|
|
NM_001386795.1(DTNA):c.1647-16G>T
|
rs2150150416
|
|
NM_001386795.1(DTNA):c.1651C>T (p.Arg551Cys)
|
rs2150150752
|
|
NM_001386795.1(DTNA):c.1671G>A (p.Gln557=)
|
|
|
NM_001386795.1(DTNA):c.1671G>C (p.Gln557His)
|
|
|
NM_001386795.1(DTNA):c.1676T>C (p.Met559Thr)
|
|
|
NM_001386795.1(DTNA):c.16G>C (p.Gly6Arg)
|
|
|
NM_001386795.1(DTNA):c.1708A>G (p.Met570Val)
|
rs1250288261
|
|
NM_001386795.1(DTNA):c.1729A>G (p.Met577Val)
|
rs370629863
|
|
NM_001386795.1(DTNA):c.1740A>G (p.Leu580=)
|
|
|
NM_001386795.1(DTNA):c.1743+14_1743+15delinsAT
|
rs2150151636
|
|
NM_001386795.1(DTNA):c.1743+17A>G
|
|
|
NM_001386795.1(DTNA):c.1743G>A (p.Lys581=)
|
|
|
NM_001386795.1(DTNA):c.1744-10G>A
|
rs192561043
|
|
NM_001386795.1(DTNA):c.1744-10G>T
|
rs192561043
|
|
NM_001386795.1(DTNA):c.1744-11T>C
|
|
|
NM_001386795.1(DTNA):c.1744-19A>G
|
|
|
NM_001386795.1(DTNA):c.1746T>C (p.Thr582=)
|
|
|
NM_001386795.1(DTNA):c.1756G>A (p.Gly586Ser)
|
rs2150323740
|
|
NM_001386795.1(DTNA):c.1760C>G (p.Ser587Cys)
|
rs766127967
|
|
NM_001386795.1(DTNA):c.1766G>A (p.Arg589His)
|
rs200246467
|
|
NM_001386795.1(DTNA):c.1770C>A (p.Ser590=)
|
rs570093404
|
|
NM_001386795.1(DTNA):c.1770C>T (p.Ser590=)
|
|
|
NM_001386795.1(DTNA):c.1776C>A (p.Pro592=)
|
|
|
NM_001386795.1(DTNA):c.1776C>G (p.Pro592=)
|
|
|
NM_001386795.1(DTNA):c.1784C>T (p.Thr595Ile)
|
|
|
NM_001386795.1(DTNA):c.1786A>G (p.Ile596Val)
|
|
|
NM_001386795.1(DTNA):c.1792A>G (p.Arg598Gly)
|
|
|
NM_001386795.1(DTNA):c.1801C>A (p.Pro601Thr)
|
|
|
NM_001386795.1(DTNA):c.1810A>G (p.Ile604Val)
|
|
|
NM_001386795.1(DTNA):c.1814G>A (p.Arg605Gln)
|
|
|
NM_001386795.1(DTNA):c.1821G>C (p.Ala607=)
|
rs9959365
|
|
NM_001386795.1(DTNA):c.1821G>T (p.Ala607=)
|
rs9959365
|
|
NM_001386795.1(DTNA):c.1836C>T (p.Thr612=)
|
|
|
NM_001386795.1(DTNA):c.1853A>G (p.Gln618Arg)
|
rs2096804507
|
|
NM_001386795.1(DTNA):c.1873G>A (p.Gly625Arg)
|
rs2150324967
|
|
NM_001386795.1(DTNA):c.187C>A (p.Arg63=)
|
rs773407468
|
|
NM_001386795.1(DTNA):c.187C>G (p.Arg63Gly)
|
rs773407468
|
|
NM_001386795.1(DTNA):c.1886A>G (p.Gln629Arg)
|
|
|
NM_001386795.1(DTNA):c.1894T>A (p.Phe632Ile)
|
|
|
NM_001386795.1(DTNA):c.1896T>A (p.Phe632Leu)
|
|
|
NM_001386795.1(DTNA):c.1904-17T>C
|
|
|
NM_001386795.1(DTNA):c.1904-8C>G
|
|
|
NM_001386795.1(DTNA):c.1968C>T (p.Ser656=)
|
|
|
NM_001386795.1(DTNA):c.196G>T (p.Ala66Ser)
|
|
|
NM_001386795.1(DTNA):c.1971T>A (p.Ser657=)
|
|
|
NM_001386795.1(DTNA):c.1993+5G>A
|
|
|
NM_001386795.1(DTNA):c.1994-5G>A
|
|
|
NM_001386795.1(DTNA):c.1995G>A (p.Glu665=)
|
|
|
NM_001386795.1(DTNA):c.2001G>A (p.Gly667=)
|
|
|
NM_001386795.1(DTNA):c.2020G>A (p.Val674Met)
|
|
|
NM_001386795.1(DTNA):c.204del (p.Asn68fs)
|
|
|
NM_001386795.1(DTNA):c.2068C>T (p.Pro690Ser)
|
|
|
NM_001386795.1(DTNA):c.206A>C (p.Asn69Thr)
|
|
|
NM_001386795.1(DTNA):c.2086_2088dup (p.Phe696_Leu697insPhe)
|
|
|
NM_001386795.1(DTNA):c.2093C>T (p.Ala698Val)
|
rs747872788
|
|
NM_001386795.1(DTNA):c.209T>C (p.Leu70Pro)
|
rs1060503523
|
|
NM_001386795.1(DTNA):c.2114C>G (p.Pro705Arg)
|
|
|
NM_001386795.1(DTNA):c.2115del (p.Tyr707fs)
|
|
|
NM_001386795.1(DTNA):c.2118G>A (p.Gly706=)
|
rs2150373256
|
|
NM_001386795.1(DTNA):c.2130T>A (p.Ser710Arg)
|
|
|
NM_001386795.1(DTNA):c.2131G>A (p.Gly711Arg)
|
rs1320504182
|
|
NM_001386795.1(DTNA):c.2140A>G (p.Thr714Ala)
|
|
|
NM_001386795.1(DTNA):c.2150T>C (p.Met717Thr)
|
|
|
NM_001386795.1(DTNA):c.2152C>T (p.Arg718Cys)
|
|
|
NM_001386795.1(DTNA):c.2153G>T (p.Arg718Leu)
|
|
|
NM_001386795.1(DTNA):c.2158G>A (p.Asp720Asn)
|
|
|
NM_001386795.1(DTNA):c.2163-17C>T
|
rs2150404797
|
|
NM_001386795.1(DTNA):c.2172G>C (p.Glu724Asp)
|
rs1297383915
|
|
NM_001386795.1(DTNA):c.2173G>A (p.Asp725Asn)
|
|
|
NM_001386795.1(DTNA):c.2191C>T (p.Gln731Ter)
|
|
|
NM_001386795.1(DTNA):c.2194C>G (p.Pro732Ala)
|
|
|
NM_001386795.1(DTNA):c.2207A>G (p.Asn736Ser)
|
|
|
NM_001386795.1(DTNA):c.220A>G (p.Thr74Ala)
|
|
|
NM_001386795.1(DTNA):c.2251A>T (p.Met751Leu)
|
|
|
NM_001386795.1(DTNA):c.2262C>T (p.Tyr754=)
|
|
|
NM_001386795.1(DTNA):c.2280A>G (p.Gln760=)
|
|
|
NM_001386795.1(DTNA):c.2295+10T>C
|
rs376012937
|
|
NM_001386795.1(DTNA):c.2310T>C (p.Gly770=)
|
|
|
NM_001386795.1(DTNA):c.231C>T (p.Asn77=)
|
rs147759402
|
|
NM_001386795.1(DTNA):c.232G>A (p.Val78Met)
|
rs1175132407
|
|
NM_001386795.1(DTNA):c.236C>T (p.Ser79Phe)
|
rs779579352
|
|
NM_001386795.1(DTNA):c.238C>T (p.Arg80Cys)
|
|
|
NM_001386795.1(DTNA):c.255C>A (p.Leu85=)
|
|
|
NM_001386795.1(DTNA):c.25G>C (p.Gly9Arg)
|
|
|
NM_001386795.1(DTNA):c.261T>C (p.Thr87=)
|
|
|
NM_001386795.1(DTNA):c.262A>G (p.Ile88Val)
|
|
|
NM_001386795.1(DTNA):c.267T>C (p.Phe89=)
|
rs2149041135
|
|
NM_001386795.1(DTNA):c.271C>G (p.Gln91Glu)
|
|
|
NM_001386795.1(DTNA):c.284G>A (p.Arg95Gln)
|
rs2094870463
|
|
NM_001386795.1(DTNA):c.293C>T (p.Thr98Ile)
|
|
|
NM_001386795.1(DTNA):c.317A>T (p.Gln106Leu)
|
|
|
NM_001386795.1(DTNA):c.31A>G (p.Thr11Ala)
|
|
|
NM_001386795.1(DTNA):c.320C>A (p.Ser107Tyr)
|
|
|
NM_001386795.1(DTNA):c.333C>T (p.Leu111=)
|
rs2149041765
|
|
NM_001386795.1(DTNA):c.353C>T (p.Ala118Val)
|
|
|
NM_001386795.1(DTNA):c.362+14del
|
rs2149042288
|
|
NM_001386795.1(DTNA):c.362+7A>G
|
|
|
NM_001386795.1(DTNA):c.363-12_363-8del
|
rs2149252560
|
|
NM_001386795.1(DTNA):c.363-17C>A
|
rs578249361
|
|
NM_001386795.1(DTNA):c.363-9A>G
|
rs886053771
|
|
NM_001386795.1(DTNA):c.364G>A (p.Glu122Lys)
|
|
|
NM_001386795.1(DTNA):c.368G>A (p.Gly123Asp)
|
rs1435037181
|
|
NM_001386795.1(DTNA):c.372T>C (p.His124=)
|
|
|
NM_001386795.1(DTNA):c.381T>A (p.Ile127=)
|
rs958850248
|
|
NM_001386795.1(DTNA):c.381T>G (p.Ile127Met)
|
rs958850248
|
|
NM_001386795.1(DTNA):c.403G>T (p.Ala135Ser)
|
rs2149253090
|
|
NM_001386795.1(DTNA):c.433A>T (p.Met145Leu)
|
rs982526159
|
|
NM_001386795.1(DTNA):c.436G>C (p.Asp146His)
|
|
|
NM_001386795.1(DTNA):c.443T>C (p.Leu148Ser)
|
|
|
NM_001386795.1(DTNA):c.448+17del
|
rs754687179
|
|
NM_001386795.1(DTNA):c.472T>G (p.Ser158Ala)
|
rs2149331739
|
|
NM_001386795.1(DTNA):c.48A>G (p.Arg16=)
|
rs2148227417
|
|
NM_001386795.1(DTNA):c.4A>G (p.Ile2Val)
|
|
|
NM_001386795.1(DTNA):c.4A>T (p.Ile2Phe)
|
rs984784834
|
|
NM_001386795.1(DTNA):c.504C>T (p.Asp168=)
|
rs1602476332
|
|
NM_001386795.1(DTNA):c.507A>G (p.Gln169=)
|
|
|
NM_001386795.1(DTNA):c.514C>T (p.Arg172Trp)
|
|
|
NM_001386795.1(DTNA):c.529C>T (p.Leu177=)
|
|
|
NM_001386795.1(DTNA):c.535A>G (p.Thr179Ala)
|
|
|
NM_001386795.1(DTNA):c.537G>A (p.Thr179=)
|
rs11877640
|
|
NM_001386795.1(DTNA):c.552T>G (p.Gly184=)
|
|
|
NM_001386795.1(DTNA):c.558A>T (p.Ser186=)
|
|
|
NM_001386795.1(DTNA):c.560T>G (p.Phe187Cys)
|
|
|
NM_001386795.1(DTNA):c.603+3A>G
|
rs2095496828
|
|
NM_001386795.1(DTNA):c.603+3dup
|
|
|
NM_001386795.1(DTNA):c.603+7G>C
|
rs1602477433
|
|
NM_001386795.1(DTNA):c.604-16G>A
|
|
|
NM_001386795.1(DTNA):c.605A>G (p.Lys202Arg)
|
|
|
NM_001386795.1(DTNA):c.647A>T (p.Asp216Val)
|
|
|
NM_001386795.1(DTNA):c.654C>A (p.Pro218=)
|
rs1478981280
|
|
NM_001386795.1(DTNA):c.667G>T (p.Val223Phe)
|
|
|
NM_001386795.1(DTNA):c.67+7A>G
|
|
|
NM_001386795.1(DTNA):c.67+8T>C
|
rs979990151
|
|
NM_001386795.1(DTNA):c.675G>C (p.Leu225Phe)
|
rs376519672
|
|
NM_001386795.1(DTNA):c.68-10C>T
|
|
|
NM_001386795.1(DTNA):c.68-6C>T
|
|
|
NM_001386795.1(DTNA):c.684G>T (p.Leu228=)
|
|
|
NM_001386795.1(DTNA):c.709+20C>T
|
|
|
NM_001386795.1(DTNA):c.709+8G>C
|
|
|
NM_001386795.1(DTNA):c.710-11T>G
|
|
|
NM_001386795.1(DTNA):c.710-4T>G
|
rs2149411883
|
|
NM_001386795.1(DTNA):c.710-5dup
|
|
|
NM_001386795.1(DTNA):c.750T>C (p.Ser250=)
|
rs758308153
|
|
NM_001386795.1(DTNA):c.754A>G (p.Met252Val)
|
|
|
NM_001386795.1(DTNA):c.754A>T (p.Met252Leu)
|
|
|
NM_001386795.1(DTNA):c.770G>A (p.Arg257Gln)
|
|
|
NM_001386795.1(DTNA):c.780G>A (p.Gln260=)
|
|
|
NM_001386795.1(DTNA):c.78T>C (p.Asp26=)
|
|
|
NM_001386795.1(DTNA):c.79C>T (p.Leu27=)
|
|
|
NM_001386795.1(DTNA):c.813C>T (p.Phe271=)
|
|
|
NM_001386795.1(DTNA):c.821G>A (p.Gly274Glu)
|
|
|
NM_001386795.1(DTNA):c.823C>T (p.His275Tyr)
|
rs1555826918
|
|
NM_001386795.1(DTNA):c.828C>T (p.Ala276=)
|
rs756146461
|
|
NM_001386795.1(DTNA):c.842G>A (p.Ser281Asn)
|
rs2095638594
|
|
NM_001386795.1(DTNA):c.872_875dup (p.Trp292fs)
|
rs2095638924
|
|
NM_001386795.1(DTNA):c.877-16T>G
|
rs2095695411
|
|
NM_001386795.1(DTNA):c.877-6T>C
|
rs1555830507
|
|
NM_001386795.1(DTNA):c.879A>G (p.Lys293=)
|
rs2095695910
|
|
NM_001386795.1(DTNA):c.88A>T (p.Ile30Phe)
|
rs1480526218
|
|
NM_001386795.1(DTNA):c.894G>T (p.Lys298Asn)
|
rs2095696064
|
|
NM_001386795.1(DTNA):c.906A>C (p.Ala302=)
|
rs1060504938
|
|
NM_001386795.1(DTNA):c.921G>A (p.Leu307=)
|
|
|
NM_001386795.1(DTNA):c.961C>G (p.Pro321Ala)
|
|
|
NM_001386795.1(DTNA):c.977A>G (p.Lys326Arg)
|
|
|
NM_001386795.1(DTNA):c.98C>T (p.Ser33Phe)
|
|
|
NM_001386795.1(DTNA):c.991G>A (p.Ala331Thr)
|
|
|
NM_001386795.1(DTNA):c.998T>G (p.Ile333Ser)
|
|
|
NM_001386795.1(DTNA):c.9A>T (p.Glu3Asp)
|
|
|
NM_001406838.1(KCNQ1):c.478-12807_478-12805del
|
rs2133726899
|
|
NM_001492.6(GDF1):c.1044CTT[1] (p.Phe350del)
|
rs1232905914
|
|
NM_001492.6(GDF1):c.456GGC[6] (p.Ala158dup)
|
rs571387097
|
|
NM_001492.6(GDF1):c.523_586dup (p.Ala196fs)
|
rs1601143502
|
|
NM_001743.6(CALM2):c.105T>C (p.Thr35=)
|
|
|
NM_001743.6(CALM2):c.123G>A (p.Gly41=)
|
rs369374910
|
|
NM_001743.6(CALM2):c.123G>C (p.Gly41=)
|
|
|
NM_001743.6(CALM2):c.157A>G (p.Ile53Val)
|
rs1553431807
|
|
NM_001743.6(CALM2):c.16A>T (p.Thr6Ser)
|
|
|
NM_001743.6(CALM2):c.178+10C>T
|
|
|
NM_001743.6(CALM2):c.178+10del
|
rs2103825559
|
|
NM_001743.6(CALM2):c.178+17G>A
|
|
|
NM_001743.6(CALM2):c.178+4A>T
|
|
|
NM_001743.6(CALM2):c.178+7C>G
|
|
|
NM_001743.6(CALM2):c.178+9T>A
|
|
|
NM_001743.6(CALM2):c.179-15A>G
|
|
|
NM_001743.6(CALM2):c.179-15A>T
|
rs747307571
|
|
NM_001743.6(CALM2):c.179-29_179-10del
|
rs1558694867
|
|
NM_001743.6(CALM2):c.179-8C>G
|
rs1553431791
|
|
NM_001743.6(CALM2):c.179-9C>T
|
rs778197988
|
|
NM_001743.6(CALM2):c.182A>G (p.Asn61Ser)
|
rs2103825319
|
|
NM_001743.6(CALM2):c.186C>A (p.Gly62=)
|
rs1573215311
|
|
NM_001743.6(CALM2):c.203A>C (p.Glu68Ala)
|
rs1687186092
|
|
NM_001743.6(CALM2):c.247G>A (p.Glu83Lys)
|
rs1687185703
|
|
NM_001743.6(CALM2):c.249A>G (p.Glu83=)
|
|
|
NM_001743.6(CALM2):c.261A>G (p.Arg87=)
|
rs765564888
|
|
NM_001743.6(CALM2):c.268T>C (p.Phe90Leu)
|
|
|
NM_001743.6(CALM2):c.285+16G>C
|
rs3729963
|
|
NM_001743.6(CALM2):c.285+16G>T
|
rs3729963
|
|
NM_001743.6(CALM2):c.285+17A>T
|
|
|
NM_001743.6(CALM2):c.285+3A>G
|
|
|
NM_001743.6(CALM2):c.285+9A>G
|
|
|
NM_001743.6(CALM2):c.286-10T>A
|
rs1558694452
|
|
NM_001743.6(CALM2):c.286-13A>C
|
|
|
NM_001743.6(CALM2):c.286-14A>G
|
|
|
NM_001743.6(CALM2):c.286-14A>T
|
|
|
NM_001743.6(CALM2):c.286-18_286-17del
|
rs112882205
|
|
NM_001743.6(CALM2):c.286-19A>G
|
|
|
NM_001743.6(CALM2):c.286-6del
|
|
|
NM_001743.6(CALM2):c.286G>T (p.Asp96Tyr)
|
rs1573214371
|
|
NM_001743.6(CALM2):c.287A>T (p.Asp96Val)
|
rs730882254
|
|
NM_001743.6(CALM2):c.291C>T (p.Gly97=)
|
|
|
NM_001743.6(CALM2):c.293A>G (p.Asn98Ser)
|
rs398124647
|
|
NM_001743.6(CALM2):c.293A>T (p.Asn98Ile)
|
rs398124647
|
|
NM_001743.6(CALM2):c.299A>G (p.Tyr100Cys)
|
rs1573214341
|
|
NM_001743.6(CALM2):c.3+12G>A
|
|
|
NM_001743.6(CALM2):c.3+13C>T
|
|
|
NM_001743.6(CALM2):c.3+17G>C
|
|
|
NM_001743.6(CALM2):c.3+18C>G
|
|
|
NM_001743.6(CALM2):c.3+20G>T
|
|
|
NM_001743.6(CALM2):c.3+9_3+18del
|
|
|
NM_001743.6(CALM2):c.307G>A (p.Ala103Thr)
|
|
|
NM_001743.6(CALM2):c.308C>T (p.Ala103Val)
|
|
|
NM_001743.6(CALM2):c.310G>A (p.Ala104Thr)
|
|
|
NM_001743.6(CALM2):c.319C>T (p.Arg107Cys)
|
rs1312868284
|
|
NM_001743.6(CALM2):c.328A>T (p.Met110Leu)
|
rs1553431711
|
|
NM_001743.6(CALM2):c.34+12_34+13delinsCT
|
rs2103844524
|
|
NM_001743.6(CALM2):c.34+17T>C
|
rs2103844496
|
|
NM_001743.6(CALM2):c.34+19G>T
|
|
|
NM_001743.6(CALM2):c.34+5G>C
|
|
|
NM_001743.6(CALM2):c.342A>C (p.Gly114=)
|
|
|
NM_001743.6(CALM2):c.35-10_35-7del
|
rs757274055
|
|
NM_001743.6(CALM2):c.35-12T>C
|
|
|
NM_001743.6(CALM2):c.35-14T>C
|
|
|
NM_001743.6(CALM2):c.35-15C>G
|
rs2103825832
|
|
NM_001743.6(CALM2):c.359AAG[1] (p.Glu121del)
|
|
|
NM_001743.6(CALM2):c.388G>A (p.Asp130Asn)
|
rs2103823638
|
|
NM_001743.6(CALM2):c.389A>G (p.Asp130Gly)
|
rs1573214163
|
|
NM_001743.6(CALM2):c.394G>T (p.Asp132Tyr)
|
rs2103823612
|
|
NM_001743.6(CALM2):c.395A>G (p.Asp132Gly)
|
rs1687164164
|
|
NM_001743.6(CALM2):c.397G>A (p.Gly133Ser)
|
rs2103823599
|
|
NM_001743.6(CALM2):c.4-15T>C
|
|
|
NM_001743.6(CALM2):c.4-17C>G
|
|
|
NM_001743.6(CALM2):c.4-19C>A
|
|
|
NM_001743.6(CALM2):c.4-5T>C
|
|
|
NM_001743.6(CALM2):c.4-8dup
|
rs2103844591
|
|
NM_001743.6(CALM2):c.400G>A (p.Asp134Asn)
|
rs398124650
|
|
NM_001743.6(CALM2):c.411A>G (p.Val137=)
|
|
|
NM_001743.6(CALM2):c.413_416dup (p.Tyr139Ter)
|
rs1687163296
|
|
NM_001743.6(CALM2):c.414C>A (p.Asn138Lys)
|
rs1553431702
|
|
NM_001743.6(CALM2):c.417T>C (p.Tyr139=)
|
rs2103823534
|
|
NM_001743.6(CALM2):c.421+11C>T
|
|
|
NM_001743.6(CALM2):c.421+13G>A
|
|
|
NM_001743.6(CALM2):c.421+19C>T
|
|
|
NM_001743.6(CALM2):c.421+4A>C
|
|
|
NM_001743.6(CALM2):c.421+8T>C
|
|
|
NM_001743.6(CALM2):c.422-12C>T
|
|
|
NM_001743.6(CALM2):c.422-12dup
|
|
|
NM_001743.6(CALM2):c.422-13del
|
rs2103821563
|
|
NM_001743.6(CALM2):c.422-15C>T
|
|
|
NM_001743.6(CALM2):c.422-15CTT[2]
|
rs775247848
|
|
NM_001743.6(CALM2):c.422-9C>T
|
|
|
NM_001743.6(CALM2):c.423G>C (p.Glu141Asp)
|
rs2103821507
|
|
NM_001743.6(CALM2):c.434T>G (p.Met145Arg)
|
rs1558693760
|
|
NM_001743.6(CALM2):c.441_*4del (p.Ala148fs)
|
|
|
NM_001743.6(CALM2):c.54A>C (p.Ser18=)
|
|
|
NM_001743.6(CALM2):c.57A>G (p.Leu19=)
|
rs754538204
|
|
NM_001743.6(CALM2):c.63C>T (p.Asp21=)
|
rs2103825750
|
|
NM_003098.3(SNTA1):c.1003_1021dup (p.Ala341fs)
|
rs775891730
|
|
NM_003098.3(SNTA1):c.1004G>A (p.Ser335Asn)
|
rs1425754256
|
|
NM_003098.3(SNTA1):c.1016G>A (p.Arg339His)
|
|
|
NM_003098.3(SNTA1):c.1038C>T (p.Thr346=)
|
rs763466091
|
|
NM_003098.3(SNTA1):c.1040+11G>A
|
|
|
NM_003098.3(SNTA1):c.1041-11C>G
|
|
|
NM_003098.3(SNTA1):c.1047G>A (p.Val349=)
|
rs954667824
|
|
NM_003098.3(SNTA1):c.1047G>C (p.Val349=)
|
|
|
NM_003098.3(SNTA1):c.1053A>G (p.Ser351=)
|
rs1555816772
|
|
NM_003098.3(SNTA1):c.1055G>A (p.Gly352Asp)
|
rs2146757905
|
|
NM_003098.3(SNTA1):c.1061C>A (p.Ser354Tyr)
|
rs1200381592
|
|
NM_003098.3(SNTA1):c.1087G>A (p.Glu363Lys)
|
rs749476668
|
|
NM_003098.3(SNTA1):c.10G>T (p.Gly4Cys)
|
rs1160832849
|
|
NM_003098.3(SNTA1):c.1100C>G (p.Ala367Gly)
|
rs2146757757
|
|
NM_003098.3(SNTA1):c.1103T>C (p.Leu368Pro)
|
rs1060503675
|
|
NM_003098.3(SNTA1):c.1109C>A (p.Thr370Lys)
|
|
|
NM_003098.3(SNTA1):c.1117C>T (p.Arg373Cys)
|
|
|
NM_003098.3(SNTA1):c.1122C>T (p.His374=)
|
|
|
NM_003098.3(SNTA1):c.1123G>A (p.Gly375Ser)
|
|
|
NM_003098.3(SNTA1):c.1127T>C (p.Val376Ala)
|
rs1283111325
|
|
NM_003098.3(SNTA1):c.1133C>T (p.Thr378Ile)
|
|
|
NM_003098.3(SNTA1):c.114C>A (p.Asp38Glu)
|
rs780018849
|
|
NM_003098.3(SNTA1):c.1158G>T (p.Pro386=)
|
rs774320273
|
|
NM_003098.3(SNTA1):c.115G>A (p.Val39Met)
|
rs755986911
|
|
NM_003098.3(SNTA1):c.1164G>A (p.Glu388=)
|
|
|
NM_003098.3(SNTA1):c.1168G>C (p.Ala390Pro)
|
rs1568746798
|
|
NM_003098.3(SNTA1):c.1181G>T (p.Arg394Leu)
|
rs750278583
|
|
NM_003098.3(SNTA1):c.1191G>C (p.Val397=)
|
rs1555816721
|
|
NM_003098.3(SNTA1):c.1197C>T (p.Gly399=)
|
|
|
NM_003098.3(SNTA1):c.1237+20G>A
|
rs1989701964
|
|
NM_003098.3(SNTA1):c.1237G>A (p.Ala413Thr)
|
rs1989702879
|
|
NM_003098.3(SNTA1):c.1238-13G>C
|
rs748801869
|
|
NM_003098.3(SNTA1):c.1238-9dup
|
|
|
NM_003098.3(SNTA1):c.123C>T (p.Thr41=)
|
rs1476277698
|
|
NM_003098.3(SNTA1):c.1244C>T (p.Thr415Met)
|
rs533902889
|
|
NM_003098.3(SNTA1):c.124G>T (p.Val42Leu)
|
|
|
NM_003098.3(SNTA1):c.1269G>A (p.Leu423=)
|
|
|
NM_003098.3(SNTA1):c.1281C>G (p.Ile427Met)
|
|
|
NM_003098.3(SNTA1):c.1283A>G (p.Asp428Gly)
|
rs1390997295
|
|
NM_003098.3(SNTA1):c.1287G>C (p.Lys429Asn)
|
rs955414123
|
|
NM_003098.3(SNTA1):c.1300_1301del (p.Trp434fs)
|
rs1273480938
|
|
NM_003098.3(SNTA1):c.130C>T (p.Pro44Ser)
|
rs1990633233
|
|
NM_003098.3(SNTA1):c.1330G>A (p.Val444Met)
|
rs201571071
|
|
NM_003098.3(SNTA1):c.1338G>A (p.Leu446=)
|
|
|
NM_003098.3(SNTA1):c.1345C>T (p.Pro449Ser)
|
|
|
NM_003098.3(SNTA1):c.1361A>G (p.Gln454Arg)
|
|
|
NM_003098.3(SNTA1):c.1382C>T (p.Ala461Val)
|
|
|
NM_003098.3(SNTA1):c.1419C>T (p.Gly473=)
|
|
|
NM_003098.3(SNTA1):c.1425+15G>A
|
|
|
NM_003098.3(SNTA1):c.1425+1G>T
|
rs113809208
|
|
NM_003098.3(SNTA1):c.1428G>A (p.Gln476=)
|
rs1060504991
|
|
NM_003098.3(SNTA1):c.1436T>C (p.Leu479Pro)
|
rs978530002
|
|
NM_003098.3(SNTA1):c.1443G>A (p.Ser481=)
|
|
|
NM_003098.3(SNTA1):c.1471C>T (p.His491Tyr)
|
|
|
NM_003098.3(SNTA1):c.1480C>T (p.Leu494=)
|
rs763351253
|
|
NM_003098.3(SNTA1):c.1482G>T (p.Leu494=)
|
|
|
NM_003098.3(SNTA1):c.1484C>A (p.Ser495Ter)
|
|
|
NM_003098.3(SNTA1):c.1498C>T (p.Arg500Cys)
|
rs786205426
|
|
NM_003098.3(SNTA1):c.1505G>C (p.Gly502Ala)
|
rs1989651824
|
|
NM_003098.3(SNTA1):c.150T>G (p.Gly50=)
|
|
|
NM_003098.3(SNTA1):c.1518G>T (p.Ter506Tyr)
|
rs1568745550
|
|
NM_003098.3(SNTA1):c.157C>G (p.Pro53Ala)
|
|
|
NM_003098.3(SNTA1):c.157C>T (p.Pro53Ser)
|
|
|
NM_003098.3(SNTA1):c.168G>T (p.Pro56=)
|
|
|
NM_003098.3(SNTA1):c.180G>A (p.Glu60=)
|
|
|
NM_003098.3(SNTA1):c.185C>A (p.Ala62Glu)
|
rs1990630503
|
|
NM_003098.3(SNTA1):c.201C>G (p.Ala67=)
|
|
|
NM_003098.3(SNTA1):c.203_204delinsTA (p.Ala68Val)
|
rs1990629807
|
|
NM_003098.3(SNTA1):c.20C>T (p.Ala7Val)
|
|
|
NM_003098.3(SNTA1):c.210G>T (p.Pro70=)
|
rs751651742
|
|
NM_003098.3(SNTA1):c.213C>G (p.Gly71=)
|
rs1374381593
|
|
NM_003098.3(SNTA1):c.220C>T (p.Pro74Ser)
|
|
|
NM_003098.3(SNTA1):c.222C>G (p.Pro74=)
|
rs752864338
|
|
NM_003098.3(SNTA1):c.225G>A (p.Pro75=)
|
rs2146814729
|
|
NM_003098.3(SNTA1):c.240G>A (p.Ala80=)
|
rs765352601
|
|
NM_003098.3(SNTA1):c.240G>T (p.Ala80=)
|
rs765352601
|
|
NM_003098.3(SNTA1):c.242T>C (p.Leu81Pro)
|
rs2146814680
|
|
NM_003098.3(SNTA1):c.250C>T (p.Gln84Ter)
|
rs786205842
|
|
NM_003098.3(SNTA1):c.272G>T (p.Arg91Leu)
|
|
|
NM_003098.3(SNTA1):c.273dup (p.Lys92fs)
|
|
|
NM_003098.3(SNTA1):c.275A>G (p.Lys92Arg)
|
|
|
NM_003098.3(SNTA1):c.279C>A (p.Ala93=)
|
rs1178951223
|
|
NM_003098.3(SNTA1):c.280G>C (p.Asp94His)
|
rs786205844
|
|
NM_003098.3(SNTA1):c.292C>T (p.Leu98=)
|
rs2146814454
|
|
NM_003098.3(SNTA1):c.304dup (p.Ile102fs)
|
|
|
NM_003098.3(SNTA1):c.310+10G>C
|
|
|
NM_003098.3(SNTA1):c.310+12_310+27del
|
rs1441274981
|
|
NM_003098.3(SNTA1):c.310+17G>A
|
|
|
NM_003098.3(SNTA1):c.311-16T>G
|
rs998028927
|
|
NM_003098.3(SNTA1):c.311-3C>T
|
rs773906766
|
|
NM_003098.3(SNTA1):c.311-6G>A
|
rs139532210
|
|
NM_003098.3(SNTA1):c.312C>T (p.Gly104=)
|
rs533476140
|
|
NM_003098.3(SNTA1):c.313G>A (p.Gly105Ser)
|
|
|
NM_003098.3(SNTA1):c.317G>C (p.Arg106Pro)
|
rs75025585
|
|
NM_003098.3(SNTA1):c.32G>T (p.Gly11Val)
|
|
|
NM_003098.3(SNTA1):c.346A>G (p.Lys116Glu)
|
|
|
NM_003098.3(SNTA1):c.349A>G (p.Ile117Val)
|
rs2146808266
|
|
NM_003098.3(SNTA1):c.34C>T (p.Leu12=)
|
rs2146815323
|
|
NM_003098.3(SNTA1):c.370G>A (p.Asp124Asn)
|
rs1430826527
|
|
NM_003098.3(SNTA1):c.390T>C (p.Phe130=)
|
rs2146808171
|
|
NM_003098.3(SNTA1):c.414G>T (p.Val138=)
|
|
|
NM_003098.3(SNTA1):c.42G>A (p.Glu14=)
|
|
|
NM_003098.3(SNTA1):c.440C>T (p.Thr147Ile)
|
|
|
NM_003098.3(SNTA1):c.47G>C (p.Arg16Pro)
|
|
|
NM_003098.3(SNTA1):c.496+12C>T
|
|
|
NM_003098.3(SNTA1):c.496+13G>A
|
|
|
NM_003098.3(SNTA1):c.496+7A>G
|
|
|
NM_003098.3(SNTA1):c.497-14TC[4]
|
rs752630265
|
|
NM_003098.3(SNTA1):c.49G>A (p.Ala17Thr)
|
rs1362176861
|
|
NM_003098.3(SNTA1):c.502T>C (p.Tyr168His)
|
|
|
NM_003098.3(SNTA1):c.506T>G (p.Met169Arg)
|
rs2146773187
|
|
NM_003098.3(SNTA1):c.51C>T (p.Ala17=)
|
rs1221002090
|
|
NM_003098.3(SNTA1):c.562G>T (p.Asp188Tyr)
|
rs750125166
|
|
NM_003098.3(SNTA1):c.567A>T (p.Ser189=)
|
rs552315106
|
|
NM_003098.3(SNTA1):c.571C>T (p.Pro191Ser)
|
|
|
NM_003098.3(SNTA1):c.57G>T (p.Ala19=)
|
rs1288013630
|
|
NM_003098.3(SNTA1):c.582C>T (p.Pro194=)
|
|
|
NM_003098.3(SNTA1):c.602C>T (p.Ser201Phe)
|
|
|
NM_003098.3(SNTA1):c.60C>T (p.Gly20=)
|
rs1990635539
|
|
NM_003098.3(SNTA1):c.616C>T (p.Pro206Ser)
|
|
|
NM_003098.3(SNTA1):c.649T>C (p.Leu217=)
|
rs1555818113
|
|
NM_003098.3(SNTA1):c.659C>T (p.Ala220Val)
|
rs1989910947
|
|
NM_003098.3(SNTA1):c.669G>A (p.Ser223=)
|
rs199762207
|
|
NM_003098.3(SNTA1):c.684C>T (p.Pro228=)
|
|
|
NM_003098.3(SNTA1):c.699C>T (p.Pro233=)
|
|
|
NM_003098.3(SNTA1):c.701+10G>C
|
|
|
NM_003098.3(SNTA1):c.702-13T>A
|
|
|
NM_003098.3(SNTA1):c.702-13T>C
|
|
|
NM_003098.3(SNTA1):c.702-1G>A
|
rs2146763231
|
|
NM_003098.3(SNTA1):c.702-3C>T
|
|
|
NM_003098.3(SNTA1):c.702-7C>A
|
rs780688953
|
|
NM_003098.3(SNTA1):c.702-8G>A
|
|
|
NM_003098.3(SNTA1):c.725A>G (p.Asp242Gly)
|
|
|
NM_003098.3(SNTA1):c.750G>A (p.Arg250=)
|
rs1014697667
|
|
NM_003098.3(SNTA1):c.756G>A (p.Lys252=)
|
|
|
NM_003098.3(SNTA1):c.75C>T (p.Gly25=)
|
|
|
NM_003098.3(SNTA1):c.761A>G (p.Glu254Gly)
|
|
|
NM_003098.3(SNTA1):c.763G>C (p.Ala255Pro)
|
rs1057524281
|
|
NM_003098.3(SNTA1):c.775T>G (p.Ser259Ala)
|
|
|
NM_003098.3(SNTA1):c.776C>A (p.Ser259Ter)
|
|
|
NM_003098.3(SNTA1):c.77A>C (p.Glu26Ala)
|
rs1234604785
|
|
NM_003098.3(SNTA1):c.77A>G (p.Glu26Gly)
|
|
|
NM_003098.3(SNTA1):c.781G>A (p.Ala261Thr)
|
|
|
NM_003098.3(SNTA1):c.783G>A (p.Ala261=)
|
|
|
NM_003098.3(SNTA1):c.794A>G (p.Gln265Arg)
|
|
|
NM_003098.3(SNTA1):c.798C>T (p.Ala266=)
|
|
|
NM_003098.3(SNTA1):c.808A>G (p.Thr270Ala)
|
|
|
NM_003098.3(SNTA1):c.809C>T (p.Thr270Ile)
|
|
|
NM_003098.3(SNTA1):c.822G>A (p.Arg274=)
|
|
|
NM_003098.3(SNTA1):c.826A>C (p.Lys276Gln)
|
rs1489981173
|
|
NM_003098.3(SNTA1):c.840G>A (p.Gln280=)
|
|
|
NM_003098.3(SNTA1):c.860G>A (p.Ser287Asn)
|
rs780098159
|
|
NM_003098.3(SNTA1):c.869G>A (p.Gly290Glu)
|
|
|
NM_003098.3(SNTA1):c.890T>C (p.Ile297Thr)
|
rs2146762566
|
|
NM_003098.3(SNTA1):c.89G>A (p.Arg30Gln)
|
|
|
NM_003098.3(SNTA1):c.910-3C>T
|
rs1989763108
|
|
NM_003098.3(SNTA1):c.910-9del
|
|
|
NM_003098.3(SNTA1):c.920G>C (p.Gly307Ala)
|
|
|
NM_003098.3(SNTA1):c.923G>A (p.Gly308Asp)
|
|
|
NM_003098.3(SNTA1):c.939G>T (p.Leu313=)
|
rs1181358730
|
|
NM_003098.3(SNTA1):c.94C>A (p.Leu32Met)
|
|
|
NM_003098.3(SNTA1):c.969C>T (p.Leu323=)
|
|
|
NM_003098.3(SNTA1):c.975G>A (p.Leu325=)
|
|
|
NM_003098.3(SNTA1):c.979C>G (p.Leu327Val)
|
|
|
NM_003098.3(SNTA1):c.979C>T (p.Leu327Phe)
|
rs1989760531
|
|
NM_003098.3(SNTA1):c.981C>T (p.Leu327=)
|
|
|
NM_003098.3(SNTA1):c.984C>G (p.Pro328=)
|
rs138863915
|
|
NM_003098.3(SNTA1):c.989C>T (p.Thr330Ile)
|
|
|
NM_003098.3(SNTA1):c.994G>A (p.Glu332Lys)
|
|
|
NM_003413.3(ZIC3):c.(?_-1)_(*1_?)del
|
|
|
NM_003413.3(ZIC3):c.-505-?_*2030+?dup
|
|
|
NM_003413.4(ZIC3):c.1050G>C (p.Arg350Ser)
|
rs1569345912
|
|
NM_003413.4(ZIC3):c.1060+13A>T
|
|
|
NM_003413.4(ZIC3):c.1069C>A (p.Pro357Thr)
|
rs1556030199
|
|
NM_003413.4(ZIC3):c.109_112del (p.Leu37fs)
|
|
|
NM_003413.4(ZIC3):c.1103del (p.Arg368fs)
|
rs2124185586
|
|
NM_003413.4(ZIC3):c.1161del (p.Tyr388fs)
|
rs1931397833
|
|
NM_003413.4(ZIC3):c.1184_1192del (p.Lys395_Tyr397del)
|
rs1931398545
|
|
NM_003413.4(ZIC3):c.1211G>T (p.Arg404Leu)
|
rs1931398768
|
|
NM_003413.4(ZIC3):c.1217A>T (p.His406Leu)
|
|
|
NM_003413.4(ZIC3):c.128C>G (p.Ser43Ter)
|
rs1569345504
|
|
NM_003413.4(ZIC3):c.135CGC[10] (p.Ala55dup)
|
rs748325646
|
|
NM_003413.4(ZIC3):c.135CGC[11] (p.Ala54_Ala55dup)
|
rs748325646
|
|
NM_003413.4(ZIC3):c.135CGC[6] (p.Ala53_Ala55del)
|
rs748325646
|
|
NM_003413.4(ZIC3):c.135CGC[7] (p.Ala54_Ala55del)
|
rs748325646
|
|
NM_003413.4(ZIC3):c.135CGC[8] (p.Ala55del)
|
rs748325646
|
|
NM_003413.4(ZIC3):c.141C>T (p.Ala47=)
|
rs771406033
|
|
NM_003413.4(ZIC3):c.18C>T (p.Asp6=)
|
rs1602742253
|
|
NM_003413.4(ZIC3):c.19G>C (p.Gly7Arg)
|
rs763534805
|
|
NM_003413.4(ZIC3):c.268C>T (p.His90Tyr)
|
|
|
NM_003413.4(ZIC3):c.312C>T (p.Tyr104=)
|
|
|
NM_003413.4(ZIC3):c.36T>C (p.Pro12=)
|
|
|
NM_003413.4(ZIC3):c.429G>C (p.Ser143=)
|
rs755825923
|
|
NM_003413.4(ZIC3):c.435C>G (p.Ser145Arg)
|
|
|
NM_003413.4(ZIC3):c.463G>T (p.Glu155Ter)
|
|
|
NM_003413.4(ZIC3):c.476_479del (p.Tyr159fs)
|
rs1556029841
|
|
NM_003413.4(ZIC3):c.508_514del (p.Ala170fs)
|
rs1931360759
|
|
NM_003413.4(ZIC3):c.535dup (p.Val179fs)
|
rs1569345723
|
|
NM_003413.4(ZIC3):c.54C>T (p.Ser18=)
|
|
|
NM_003413.4(ZIC3):c.571del (p.Glu191fs)
|
rs1602742808
|
|
NM_003413.4(ZIC3):c.667A>G (p.Asn223Asp)
|
|
|
NM_003413.4(ZIC3):c.667AACATG[3] (p.223NM[3])
|
rs779610526
|
|
NM_003413.4(ZIC3):c.676A>C (p.Met226Leu)
|
|
|
NM_003413.4(ZIC3):c.727_740del (p.Met243fs)
|
|
|
NM_003413.4(ZIC3):c.755C>A (p.Ser252Ter)
|
rs1203069392
|
|
NM_003413.4(ZIC3):c.810del (p.Thr271fs)
|
rs2124184171
|
|
NM_003413.4(ZIC3):c.860_864del (p.Val287fs)
|
rs2124184204
|
|
NM_003413.4(ZIC3):c.876G>C (p.Gln292His)
|
|
|
NM_003413.4(ZIC3):c.882C>G (p.Asn294Lys)
|
rs1298851009
|
|
NM_003413.4(ZIC3):c.900G>A (p.Glu300=)
|
|
|
NM_003413.4(ZIC3):c.92A>T (p.Glu31Val)
|
rs752686913
|
|
NM_003413.4(ZIC3):c.968C>T (p.Thr323Met)
|
rs122462165
|
|
NM_003413.4(ZIC3):c.976A>T (p.Lys326Ter)
|
|
|
NM_003413.4(ZIC3):c.984C>G (p.Phe328Leu)
|
rs1266364318
|
|
NM_004387.3(NKX2-5):c.-229_*465del
|
|
|
NM_004387.3(NKX2-5):c.-229_334del
|
rs1581111034
|
|
NM_004387.4(NKX2-5):c.107G>A (p.Arg36His)
|
|
|
NM_004387.4(NKX2-5):c.10A>G (p.Ser4Gly)
|
|
|
NM_004387.4(NKX2-5):c.116C>G (p.Ala39Gly)
|
rs1234717083
|
|
NM_004387.4(NKX2-5):c.124G>A (p.Ala42Thr)
|
|
|
NM_004387.4(NKX2-5):c.125C>T (p.Ala42Val)
|
rs1761439619
|
|
NM_004387.4(NKX2-5):c.132C>G (p.Ser44=)
|
|
|
NM_004387.4(NKX2-5):c.133T>C (p.Ser45Pro)
|
|
|
NM_004387.4(NKX2-5):c.143T>C (p.Leu48Pro)
|
|
|
NM_004387.4(NKX2-5):c.147_163delinsGCCTCCT (p.Ala50fs)
|
rs1561621507
|
|
NM_004387.4(NKX2-5):c.14C>G (p.Pro5Arg)
|
|
|
NM_004387.4(NKX2-5):c.156G>T (p.Lys52Asn)
|
|
|
NM_004387.4(NKX2-5):c.159A>T (p.Pro53=)
|
rs1581111412
|
|
NM_004387.4(NKX2-5):c.15T>C (p.Pro5=)
|
rs747865362
|
|
NM_004387.4(NKX2-5):c.160_161insCTGGCCCG (p.Glu54fs)
|
rs1761438700
|
|
NM_004387.4(NKX2-5):c.167A>G (p.Tyr56Cys)
|
rs1360861650
|
|
NM_004387.4(NKX2-5):c.167_186dup (p.Ala63fs)
|
rs2113906336
|
|
NM_004387.4(NKX2-5):c.168C>G (p.Tyr56Ter)
|
|
|
NM_004387.4(NKX2-5):c.169G>C (p.Ala57Pro)
|
|
|
NM_004387.4(NKX2-5):c.177C>A (p.Pro59=)
|
|
|
NM_004387.4(NKX2-5):c.178G>A (p.Glu60Lys)
|
|
|
NM_004387.4(NKX2-5):c.178G>C (p.Glu60Gln)
|
rs766199339
|
|
NM_004387.4(NKX2-5):c.182C>T (p.Ala61Val)
|
|
|
NM_004387.4(NKX2-5):c.189G>A (p.Ala63=)
|
rs760954359
|
|
NM_004387.4(NKX2-5):c.192G>A (p.Pro64=)
|
rs1242630173
|
|
NM_004387.4(NKX2-5):c.192G>C (p.Pro64=)
|
|
|
NM_004387.4(NKX2-5):c.200C>T (p.Pro67Leu)
|
rs2113906300
|
|
NM_004387.4(NKX2-5):c.206T>G (p.Leu69Arg)
|
rs1032793565
|
|
NM_004387.4(NKX2-5):c.207G>A (p.Leu69=)
|
|
|
NM_004387.4(NKX2-5):c.211G>C (p.Ala71Pro)
|
|
|
NM_004387.4(NKX2-5):c.212del (p.Ala71fs)
|
rs2113906234
|
|
NM_004387.4(NKX2-5):c.224G>T (p.Arg75Leu)
|
rs1363174603
|
|
NM_004387.4(NKX2-5):c.227C>A (p.Ala76Glu)
|
|
|
NM_004387.4(NKX2-5):c.229C>T (p.Pro77Ser)
|
rs771593440
|
|
NM_004387.4(NKX2-5):c.230del (p.Pro77fs)
|
rs2113906167
|
|
NM_004387.4(NKX2-5):c.234A>T (p.Ser78=)
|
rs2113906146
|
|
NM_004387.4(NKX2-5):c.236C>A (p.Pro79Gln)
|
|
|
NM_004387.4(NKX2-5):c.237G>A (p.Pro79=)
|
rs72554029
|
|
NM_004387.4(NKX2-5):c.237G>T (p.Pro79=)
|
rs72554029
|
|
NM_004387.4(NKX2-5):c.23C>G (p.Thr8Arg)
|
|
|
NM_004387.4(NKX2-5):c.241A>G (p.Lys81Glu)
|
rs904474688
|
|
NM_004387.4(NKX2-5):c.246T>C (p.Cys82=)
|
|
|
NM_004387.4(NKX2-5):c.246dup (p.Ala83fs)
|
rs1761434175
|
|
NM_004387.4(NKX2-5):c.248C>G (p.Ala83Gly)
|
rs1182777346
|
|
NM_004387.4(NKX2-5):c.249G>T (p.Ala83=)
|
rs1442654880
|
|
NM_004387.4(NKX2-5):c.252T>C (p.Ser84=)
|
|
|
NM_004387.4(NKX2-5):c.253_256dup (p.Phe86fs)
|
rs2113906022
|
|
NM_004387.4(NKX2-5):c.259C>T (p.Pro87Ser)
|
|
|
NM_004387.4(NKX2-5):c.261C>T (p.Pro87=)
|
|
|
NM_004387.4(NKX2-5):c.265G>C (p.Ala89Pro)
|
rs1761432750
|
|
NM_004387.4(NKX2-5):c.266C>A (p.Ala89Asp)
|
rs2113905976
|
|
NM_004387.4(NKX2-5):c.270del (p.Ala91fs)
|
rs2113905948
|
|
NM_004387.4(NKX2-5):c.270dup (p.Ala91fs)
|
rs2113905948
|
|
NM_004387.4(NKX2-5):c.274T>G (p.Phe92Val)
|
|
|
NM_004387.4(NKX2-5):c.279T>A (p.Tyr93Ter)
|
|
|
NM_004387.4(NKX2-5):c.280C>T (p.Pro94Ser)
|
rs1009994744
|
|
NM_004387.4(NKX2-5):c.281del (p.Pro94fs)
|
rs2113905914
|
|
NM_004387.4(NKX2-5):c.283C>G (p.Arg95Gly)
|
|
|
NM_004387.4(NKX2-5):c.287C>T (p.Ala96Val)
|
rs760088847
|
|
NM_004387.4(NKX2-5):c.291C>A (p.Tyr97Ter)
|
|
|
NM_004387.4(NKX2-5):c.298C>A (p.Pro100Thr)
|
rs550046293
|
|
NM_004387.4(NKX2-5):c.298C>G (p.Pro100Ala)
|
rs550046293
|
|
NM_004387.4(NKX2-5):c.299C>T (p.Pro100Leu)
|
|
|
NM_004387.4(NKX2-5):c.300C>G (p.Pro100=)
|
|
|
NM_004387.4(NKX2-5):c.302A>G (p.Asp101Gly)
|
|
|
NM_004387.4(NKX2-5):c.302A>T (p.Asp101Val)
|
|
|
NM_004387.4(NKX2-5):c.310A>T (p.Lys104Ter)
|
rs1761430125
|
|
NM_004387.4(NKX2-5):c.314_321del (p.Asp105fs)
|
|
|
NM_004387.4(NKX2-5):c.315C>T (p.Asp105=)
|
|
|
NM_004387.4(NKX2-5):c.322G>A (p.Ala108Thr)
|
|
|
NM_004387.4(NKX2-5):c.323C>T (p.Ala108Val)
|
rs1581111049
|
|
NM_004387.4(NKX2-5):c.325G>A (p.Glu109Lys)
|
|
|
NM_004387.4(NKX2-5):c.328A>T (p.Lys110Ter)
|
|
|
NM_004387.4(NKX2-5):c.334+9G>A
|
rs534308328
|
|
NM_004387.4(NKX2-5):c.334+9G>T
|
rs534308328
|
|
NM_004387.4(NKX2-5):c.335-16C>T
|
|
|
NM_004387.4(NKX2-5):c.335-18C>T
|
|
|
NM_004387.4(NKX2-5):c.335-3C>T
|
|
|
NM_004387.4(NKX2-5):c.335-5C>T
|
rs2113902342
|
|
NM_004387.4(NKX2-5):c.335-5dup
|
rs1316920712
|
|
NM_004387.4(NKX2-5):c.335-6C>T
|
|
|
NM_004387.4(NKX2-5):c.335-7C>G
|
rs937339110
|
|
NM_004387.4(NKX2-5):c.340T>G (p.Cys114Gly)
|
|
|
NM_004387.4(NKX2-5):c.340_341del (p.Cys114fs)
|
rs2113902320
|
|
NM_004387.4(NKX2-5):c.340_341dup (p.Leu116fs)
|
rs2113902320
|
|
NM_004387.4(NKX2-5):c.342C>A (p.Cys114Ter)
|
|
|
NM_004387.4(NKX2-5):c.342C>G (p.Cys114Trp)
|
rs760723447
|
|
NM_004387.4(NKX2-5):c.343G>C (p.Ala115Pro)
|
|
|
NM_004387.4(NKX2-5):c.356C>T (p.Ala119Val)
|
rs369025518
|
|
NM_004387.4(NKX2-5):c.357G>C (p.Ala119=)
|
rs769566306
|
|
NM_004387.4(NKX2-5):c.357G>T (p.Ala119=)
|
rs769566306
|
|
NM_004387.4(NKX2-5):c.367G>A (p.Glu123Lys)
|
|
|
NM_004387.4(NKX2-5):c.369G>A (p.Glu123=)
|
|
|
NM_004387.4(NKX2-5):c.375dup (p.Glu126fs)
|
rs1561619801
|
|
NM_004387.4(NKX2-5):c.377A>C (p.Glu126Ala)
|
rs1320947604
|
|
NM_004387.4(NKX2-5):c.377_378del (p.Glu126fs)
|
rs2113902216
|
|
NM_004387.4(NKX2-5):c.380C>G (p.Ala127Gly)
|
|
|
NM_004387.4(NKX2-5):c.381G>T (p.Ala127=)
|
|
|
NM_004387.4(NKX2-5):c.385A>T (p.Asn129Tyr)
|
|
|
NM_004387.4(NKX2-5):c.387C>A (p.Asn129Lys)
|
rs750029908
|
|
NM_004387.4(NKX2-5):c.400C>G (p.Arg134Gly)
|
|
|
NM_004387.4(NKX2-5):c.400C>T (p.Arg134Trp)
|
rs1248623506
|
|
NM_004387.4(NKX2-5):c.401G>A (p.Arg134Gln)
|
|
|
NM_004387.4(NKX2-5):c.406C>A (p.Arg136=)
|
|
|
NM_004387.4(NKX2-5):c.409C>A (p.Arg137=)
|
rs1260214548
|
|
NM_004387.4(NKX2-5):c.410G>A (p.Arg137Gln)
|
|
|
NM_004387.4(NKX2-5):c.416G>A (p.Arg139Lys)
|
|
|
NM_004387.4(NKX2-5):c.417del (p.Lys140fs)
|
|
|
NM_004387.4(NKX2-5):c.421C>G (p.Pro141Ala)
|
rs774627537
|
|
NM_004387.4(NKX2-5):c.423G>A (p.Pro141=)
|
|
|
NM_004387.4(NKX2-5):c.423dup (p.Arg142fs)
|
rs2113902012
|
|
NM_004387.4(NKX2-5):c.425G>A (p.Arg142His)
|
rs2113902000
|
|
NM_004387.4(NKX2-5):c.429G>A (p.Val143=)
|
|
|
NM_004387.4(NKX2-5):c.430C>T (p.Leu144Phe)
|
rs1431464297
|
|
NM_004387.4(NKX2-5):c.431T>C (p.Leu144Pro)
|
rs747932354
|
|
NM_004387.4(NKX2-5):c.432C>T (p.Leu144=)
|
rs1182838417
|
|
NM_004387.4(NKX2-5):c.433T>C (p.Phe145Leu)
|
rs2113901956
|
|
NM_004387.4(NKX2-5):c.434dup (p.Ser146fs)
|
rs2113901953
|
|
NM_004387.4(NKX2-5):c.437C>A (p.Ser146Ter)
|
rs397516909
|
|
NM_004387.4(NKX2-5):c.447G>C (p.Gln149His)
|
rs1230869762
|
|
NM_004387.4(NKX2-5):c.457C>G (p.Leu153Val)
|
|
|
NM_004387.4(NKX2-5):c.458T>C (p.Leu153Pro)
|
rs2113901873
|
|
NM_004387.4(NKX2-5):c.462del (p.Glu154fs)
|
rs2113901862
|
|
NM_004387.4(NKX2-5):c.464G>C (p.Arg155Pro)
|
rs1018993104
|
|
NM_004387.4(NKX2-5):c.465G>A (p.Arg155=)
|
|
|
NM_004387.4(NKX2-5):c.467G>A (p.Arg156His)
|
rs2113901836
|
|
NM_004387.4(NKX2-5):c.46G>A (p.Asp16Asn)
|
rs750904275
|
|
NM_004387.4(NKX2-5):c.473A>G (p.Lys158Arg)
|
rs1761358755
|
|
NM_004387.4(NKX2-5):c.475C>G (p.Gln159Glu)
|
|
|
NM_004387.4(NKX2-5):c.477G>C (p.Gln159His)
|
|
|
NM_004387.4(NKX2-5):c.477G>T (p.Gln159His)
|
|
|
NM_004387.4(NKX2-5):c.481C>G (p.Arg161Gly)
|
rs2113901789
|
|
NM_004387.4(NKX2-5):c.484T>A (p.Tyr162Asn)
|
|
|
NM_004387.4(NKX2-5):c.486C>A (p.Tyr162Ter)
|
rs1456289029
|
|
NM_004387.4(NKX2-5):c.489G>T (p.Leu163=)
|
rs2113901761
|
|
NM_004387.4(NKX2-5):c.491C>A (p.Ser164Ter)
|
rs1554093487
|
|
NM_004387.4(NKX2-5):c.494C>A (p.Ala165Asp)
|
rs984722259
|
|
NM_004387.4(NKX2-5):c.494C>G (p.Ala165Gly)
|
|
|
NM_004387.4(NKX2-5):c.499G>A (p.Glu167Lys)
|
rs1761357696
|
|
NM_004387.4(NKX2-5):c.506A>G (p.Asp169Gly)
|
|
|
NM_004387.4(NKX2-5):c.508C>T (p.Gln170Ter)
|
rs104893901
|
|
NM_004387.4(NKX2-5):c.512T>A (p.Leu171Gln)
|
|
|
NM_004387.4(NKX2-5):c.512T>C (p.Leu171Pro)
|
rs797045791
|
|
NM_004387.4(NKX2-5):c.513G>A (p.Leu171=)
|
|
|
NM_004387.4(NKX2-5):c.514G>A (p.Ala172Thr)
|
rs878854704
|
|
NM_004387.4(NKX2-5):c.520G>A (p.Val174Met)
|
|
|
NM_004387.4(NKX2-5):c.524T>C (p.Leu175Pro)
|
rs1761356915
|
|
NM_004387.4(NKX2-5):c.533C>T (p.Thr178Met)
|
rs104893900
|
|
NM_004387.4(NKX2-5):c.542dup (p.Val182fs)
|
|
|
NM_004387.4(NKX2-5):c.548A>G (p.Lys183Arg)
|
rs2113901612
|
|
NM_004387.4(NKX2-5):c.548_556del (p.Lys183_Phe186delinsIle)
|
|
|
NM_004387.4(NKX2-5):c.549G>C (p.Lys183Asn)
|
|
|
NM_004387.4(NKX2-5):c.550A>C (p.Ile184Leu)
|
|
|
NM_004387.4(NKX2-5):c.551T>A (p.Ile184Asn)
|
|
|
NM_004387.4(NKX2-5):c.554G>A (p.Trp185Ter)
|
|
|
NM_004387.4(NKX2-5):c.559C>G (p.Gln187Glu)
|
|
|
NM_004387.4(NKX2-5):c.563A>C (p.Asn188Thr)
|
rs2113901591
|
|
NM_004387.4(NKX2-5):c.565C>A (p.Arg189=)
|
|
|
NM_004387.4(NKX2-5):c.565C>T (p.Arg189Trp)
|
rs759647212
|
|
NM_004387.4(NKX2-5):c.566G>A (p.Arg189Gln)
|
rs786205824
|
|
NM_004387.4(NKX2-5):c.566G>C (p.Arg189Pro)
|
rs786205824
|
|
NM_004387.4(NKX2-5):c.567G>A (p.Arg189=)
|
|
|
NM_004387.4(NKX2-5):c.568C>T (p.Arg190Cys)
|
rs104893906
|
|
NM_004387.4(NKX2-5):c.572A>G (p.Tyr191Cys)
|
|
|
NM_004387.4(NKX2-5):c.578G>A (p.Cys193Tyr)
|
|
|
NM_004387.4(NKX2-5):c.582G>A (p.Lys194=)
|
|
|
NM_004387.4(NKX2-5):c.583CGGCAG[1] (p.195RQ[1])
|
|
|
NM_004387.4(NKX2-5):c.584G>C (p.Arg195Pro)
|
|
|
NM_004387.4(NKX2-5):c.585del (p.Gln196fs)
|
rs2113901553
|
|
NM_004387.4(NKX2-5):c.590G>C (p.Arg197Pro)
|
rs774482632
|
|
NM_004387.4(NKX2-5):c.591G>A (p.Arg197=)
|
rs1761354689
|
|
NM_004387.4(NKX2-5):c.597C>A (p.Asp199Glu)
|
|
|
NM_004387.4(NKX2-5):c.598_599del (p.Gln200fs)
|
rs2113901504
|
|
NM_004387.4(NKX2-5):c.59T>C (p.Leu20Pro)
|
rs1471444031
|
|
NM_004387.4(NKX2-5):c.603T>G (p.Thr201=)
|
rs980492525
|
|
NM_004387.4(NKX2-5):c.605_606del (p.Leu202fs)
|
rs1554093461
|
|
NM_004387.4(NKX2-5):c.606G>A (p.Leu202=)
|
|
|
NM_004387.4(NKX2-5):c.608A>G (p.Glu203Gly)
|
rs771533553
|
|
NM_004387.4(NKX2-5):c.608_616dup (p.Glu203_Val205dup)
|
rs1302021340
|
|
NM_004387.4(NKX2-5):c.60G>C (p.Leu20=)
|
rs554604572
|
|
NM_004387.4(NKX2-5):c.612G>A (p.Leu204=)
|
rs946354549
|
|
NM_004387.4(NKX2-5):c.613G>A (p.Val205Met)
|
|
|
NM_004387.4(NKX2-5):c.615G>A (p.Val205=)
|
|
|
NM_004387.4(NKX2-5):c.622C>T (p.Pro208Ser)
|
|
|
NM_004387.4(NKX2-5):c.624_632del (p.Pro212_Pro214del)
|
rs1761352648
|
|
NM_004387.4(NKX2-5):c.625_646del (p.Pro209fs)
|
|
|
NM_004387.4(NKX2-5):c.627G>A (p.Pro209=)
|
|
|
NM_004387.4(NKX2-5):c.627GCC[3] (p.Pro213_Pro214del)
|
rs746833511
|
|
NM_004387.4(NKX2-5):c.627GCC[4] (p.Pro214del)
|
rs746833511
|
|
NM_004387.4(NKX2-5):c.627GCC[6] (p.Pro214dup)
|
rs746833511
|
|
NM_004387.4(NKX2-5):c.627GCC[7] (p.Pro213_Pro214dup)
|
rs746833511
|
|
NM_004387.4(NKX2-5):c.629C>G (p.Pro210Arg)
|
|
|
NM_004387.4(NKX2-5):c.629_648del (p.Pro210fs)
|
|
|
NM_004387.4(NKX2-5):c.635C>G (p.Pro212Arg)
|
rs372282873
|
|
NM_004387.4(NKX2-5):c.635C>T (p.Pro212Leu)
|
rs372282873
|
|
NM_004387.4(NKX2-5):c.637C>G (p.Pro213Ala)
|
rs1250491634
|
|
NM_004387.4(NKX2-5):c.641C>T (p.Pro214Leu)
|
|
|
NM_004387.4(NKX2-5):c.646del (p.Arg216fs)
|
|
|
NM_004387.4(NKX2-5):c.649A>G (p.Arg217Gly)
|
|
|
NM_004387.4(NKX2-5):c.64C>G (p.Gln22Glu)
|
|
|
NM_004387.4(NKX2-5):c.651G>A (p.Arg217=)
|
|
|
NM_004387.4(NKX2-5):c.657G>C (p.Ala219=)
|
rs990341478
|
|
NM_004387.4(NKX2-5):c.658G>A (p.Val220Met)
|
|
|
NM_004387.4(NKX2-5):c.65A>C (p.Gln22Pro)
|
rs201442000
|
|
NM_004387.4(NKX2-5):c.662C>T (p.Pro221Leu)
|
rs1554093444
|
|
NM_004387.4(NKX2-5):c.668del (p.Leu223fs)
|
rs1581108237
|
|
NM_004387.4(NKX2-5):c.671T>C (p.Val224Ala)
|
rs2113901297
|
|
NM_004387.4(NKX2-5):c.676G>A (p.Asp226Asn)
|
rs760528062
|
|
NM_004387.4(NKX2-5):c.685C>A (p.Pro229Thr)
|
|
|
NM_004387.4(NKX2-5):c.685C>G (p.Pro229Ala)
|
rs2113901265
|
|
NM_004387.4(NKX2-5):c.690C>T (p.Cys230=)
|
|
|
NM_004387.4(NKX2-5):c.693_700del (p.Asp233fs)
|
|
|
NM_004387.4(NKX2-5):c.694_710dup (p.Tyr237Ter)
|
|
|
NM_004387.4(NKX2-5):c.699C>T (p.Asp233=)
|
|
|
NM_004387.4(NKX2-5):c.701C>A (p.Ser234Ter)
|
rs773922431
|
|
NM_004387.4(NKX2-5):c.701C>G (p.Ser234Trp)
|
|
|
NM_004387.4(NKX2-5):c.701C>T (p.Ser234Leu)
|
|
|
NM_004387.4(NKX2-5):c.704C>T (p.Ala235Val)
|
|
|
NM_004387.4(NKX2-5):c.709T>C (p.Tyr237His)
|
rs1761349696
|
|
NM_004387.4(NKX2-5):c.711C>A (p.Tyr237Ter)
|
rs1554093433
|
|
NM_004387.4(NKX2-5):c.713C>T (p.Ala238Val)
|
|
|
NM_004387.4(NKX2-5):c.723C>T (p.Tyr241=)
|
rs1204175293
|
|
NM_004387.4(NKX2-5):c.724G>A (p.Gly242Ser)
|
rs867226708
|
|
NM_004387.4(NKX2-5):c.724G>C (p.Gly242Arg)
|
rs867226708
|
|
NM_004387.4(NKX2-5):c.730G>A (p.Gly244Ser)
|
|
|
NM_004387.4(NKX2-5):c.733C>G (p.Leu245Val)
|
rs1761348880
|
|
NM_004387.4(NKX2-5):c.733C>T (p.Leu245Phe)
|
|
|
NM_004387.4(NKX2-5):c.737A>G (p.Asn246Ser)
|
|
|
NM_004387.4(NKX2-5):c.739C>G (p.Pro247Ala)
|
|
|
NM_004387.4(NKX2-5):c.743A>G (p.Tyr248Cys)
|
rs1131691343
|
|
NM_004387.4(NKX2-5):c.744C>A (p.Tyr248Ter)
|
rs758539727
|
|
NM_004387.4(NKX2-5):c.747_748dup (p.Tyr250fs)
|
|
|
NM_004387.4(NKX2-5):c.751A>G (p.Asn251Asp)
|
|
|
NM_004387.4(NKX2-5):c.752A>G (p.Asn251Ser)
|
rs1327849028
|
|
NM_004387.4(NKX2-5):c.763G>A (p.Ala255Thr)
|
rs759518211
|
|
NM_004387.4(NKX2-5):c.776A>T (p.Tyr259Phe)
|
|
|
NM_004387.4(NKX2-5):c.778_784dup (p.Ala262fs)
|
rs2113901025
|
|
NM_004387.4(NKX2-5):c.783del (p.Ala262fs)
|
rs587784067
|
|
NM_004387.4(NKX2-5):c.78C>T (p.Ser26=)
|
rs2113906717
|
|
NM_004387.4(NKX2-5):c.799G>A (p.Gly267Ser)
|
rs780688010
|
|
NM_004387.4(NKX2-5):c.799G>C (p.Gly267Arg)
|
|
|
NM_004387.4(NKX2-5):c.804C>G (p.Tyr268Ter)
|
rs1761346424
|
|
NM_004387.4(NKX2-5):c.813T>A (p.Thr271=)
|
|
|
NM_004387.4(NKX2-5):c.816C>T (p.Ala272=)
|
|
|
NM_004387.4(NKX2-5):c.817G>C (p.Ala273Pro)
|
|
|
NM_004387.4(NKX2-5):c.819T>A (p.Ala273=)
|
rs2113900942
|
|
NM_004387.4(NKX2-5):c.822C>A (p.Tyr274Ter)
|
|
|
NM_004387.4(NKX2-5):c.823C>T (p.Pro275Ser)
|
rs368366482
|
|
NM_004387.4(NKX2-5):c.824C>T (p.Pro275Leu)
|
rs1060503097
|
|
NM_004387.4(NKX2-5):c.828C>G (p.Ala276=)
|
rs762836048
|
|
NM_004387.4(NKX2-5):c.829G>C (p.Gly277Arg)
|
rs772729751
|
|
NM_004387.4(NKX2-5):c.829G>T (p.Gly277Trp)
|
rs772729751
|
|
NM_004387.4(NKX2-5):c.833C>T (p.Pro278Leu)
|
rs2113900895
|
|
NM_004387.4(NKX2-5):c.837C>T (p.Ser279=)
|
rs1761345000
|
|
NM_004387.4(NKX2-5):c.841G>A (p.Ala281Thr)
|
|
|
NM_004387.4(NKX2-5):c.842C>T (p.Ala281Val)
|
|
|
NM_004387.4(NKX2-5):c.847C>G (p.Pro283Ala)
|
rs2113900851
|
|
NM_004387.4(NKX2-5):c.847_849dup (p.Pro283dup)
|
rs747608855
|
|
NM_004387.4(NKX2-5):c.848C>G (p.Pro283Arg)
|
|
|
NM_004387.4(NKX2-5):c.848C>T (p.Pro283Leu)
|
|
|
NM_004387.4(NKX2-5):c.851C>T (p.Ala284Val)
|
rs1761344289
|
|
NM_004387.4(NKX2-5):c.858C>G (p.Ala286=)
|
|
|
NM_004387.4(NKX2-5):c.858C>T (p.Ala286=)
|
|
|
NM_004387.4(NKX2-5):c.861C>A (p.Ala287=)
|
|
|
NM_004387.4(NKX2-5):c.862G>A (p.Ala288Thr)
|
|
|
NM_004387.4(NKX2-5):c.865AAC[2] (p.Asn291del)
|
rs756974215
|
|
NM_004387.4(NKX2-5):c.871A>T (p.Asn291Tyr)
|
|
|
NM_004387.4(NKX2-5):c.872A>C (p.Asn291Thr)
|
rs1318592912
|
|
NM_004387.4(NKX2-5):c.882C>T (p.Asn294=)
|
rs1554093405
|
|
NM_004387.4(NKX2-5):c.885C>A (p.Phe295Leu)
|
rs150581386
|
|
NM_004387.4(NKX2-5):c.885C>T (p.Phe295=)
|
rs150581386
|
|
NM_004387.4(NKX2-5):c.886G>A (p.Gly296Ser)
|
rs1358735679
|
|
NM_004387.4(NKX2-5):c.886G>T (p.Gly296Cys)
|
rs1358735679
|
|
NM_004387.4(NKX2-5):c.888C>A (p.Gly296=)
|
|
|
NM_004387.4(NKX2-5):c.889G>T (p.Val297Phe)
|
rs569535312
|
|
NM_004387.4(NKX2-5):c.88G>A (p.Ala30Thr)
|
rs1304644050
|
|
NM_004387.4(NKX2-5):c.891C>T (p.Val297=)
|
|
|
NM_004387.4(NKX2-5):c.894G>A (p.Gly298=)
|
rs2113900696
|
|
NM_004387.4(NKX2-5):c.897C>T (p.Asp299=)
|
rs1060504828
|
|
NM_004387.4(NKX2-5):c.906G>C (p.Ala302=)
|
rs529731562
|
|
NM_004387.4(NKX2-5):c.918C>T (p.Pro306=)
|
|
|
NM_004387.4(NKX2-5):c.921G>A (p.Gly307=)
|
|
|
NM_004387.4(NKX2-5):c.922A>G (p.Ile308Val)
|
rs2113900634
|
|
NM_004387.4(NKX2-5):c.923T>C (p.Ile308Thr)
|
|
|
NM_004387.4(NKX2-5):c.926C>T (p.Pro309Leu)
|
|
|
NM_004387.4(NKX2-5):c.931A>C (p.Ser311Arg)
|
|
|
NM_004387.4(NKX2-5):c.932G>A (p.Ser311Asn)
|
|
|
NM_004387.4(NKX2-5):c.940G>T (p.Gly314Ter)
|
rs1761340979
|
|
NM_004387.4(NKX2-5):c.941G>A (p.Gly314Glu)
|
|
|
NM_004387.4(NKX2-5):c.947C>A (p.Ser316Tyr)
|
|
|
NM_004387.4(NKX2-5):c.950C>T (p.Thr317Met)
|
rs2113900561
|
|
NM_004387.4(NKX2-5):c.952_953delinsGC (p.Leu318Ala)
|
rs1581107775
|
|
NM_004387.4(NKX2-5):c.957T>A (p.His319Gln)
|
|
|
NM_004387.4(NKX2-5):c.966A>G (p.Arg322=)
|
|
|
NM_004387.4(NKX2-5):c.968C>G (p.Ala323Gly)
|
rs1188394387
|
|
NM_004387.4(NKX2-5):c.96G>A (p.Glu32=)
|
rs776310516
|
|
NM_004387.4(NKX2-5):c.99C>G (p.Leu33=)
|
rs2113906643
|
|
NM_004821.3(HAND1):c.10G>A (p.Val4Met)
|
|
|
NM_004821.3(HAND1):c.110A>G (p.Gln37Arg)
|
|
|
NM_004821.3(HAND1):c.111G>C (p.Gln37His)
|
|
|
NM_004821.3(HAND1):c.112G>A (p.Glu38Lys)
|
|
|
NM_004821.3(HAND1):c.117G>C (p.Arg39Ser)
|
rs2113303993
|
|
NM_004821.3(HAND1):c.118C>A (p.Pro40Thr)
|
|
|
NM_004821.3(HAND1):c.126C>A (p.Phe42Leu)
|
|
|
NM_004821.3(HAND1):c.132C>G (p.Ser44Arg)
|
|
|
NM_004821.3(HAND1):c.146C>G (p.Pro49Arg)
|
|
|
NM_004821.3(HAND1):c.158C>T (p.Ala53Val)
|
|
|
NM_004821.3(HAND1):c.161C>G (p.Pro54Arg)
|
rs780969396
|
|
NM_004821.3(HAND1):c.161C>T (p.Pro54Leu)
|
|
|
NM_004821.3(HAND1):c.168C>G (p.Phe56Leu)
|
|
|
NM_004821.3(HAND1):c.173C>A (p.Ala58Glu)
|
|
|
NM_004821.3(HAND1):c.173C>T (p.Ala58Val)
|
|
|
NM_004821.3(HAND1):c.174G>A (p.Ala58=)
|
rs761768832
|
|
NM_004821.3(HAND1):c.174G>T (p.Ala58=)
|
|
|
NM_004821.3(HAND1):c.182C>A (p.Pro61Gln)
|
|
|
NM_004821.3(HAND1):c.186G>T (p.Pro62=)
|
|
|
NM_004821.3(HAND1):c.196G>A (p.Ala66Thr)
|
|
|
NM_004821.3(HAND1):c.1A>G (p.Met1Val)
|
|
|
NM_004821.3(HAND1):c.210C>A (p.Thr70=)
|
|
|
NM_004821.3(HAND1):c.225C>T (p.Asp75=)
|
rs752995620
|
|
NM_004821.3(HAND1):c.231G>T (p.Arg77Ser)
|
|
|
NM_004821.3(HAND1):c.235G>C (p.Gly79Arg)
|
|
|
NM_004821.3(HAND1):c.250C>G (p.Arg84Gly)
|
|
|
NM_004821.3(HAND1):c.261G>T (p.Ala87=)
|
rs768347498
|
|
NM_004821.3(HAND1):c.271C>A (p.Arg91Ser)
|
rs369296058
|
|
NM_004821.3(HAND1):c.271C>G (p.Arg91Gly)
|
|
|
NM_004821.3(HAND1):c.280C>A (p.Arg94=)
|
|
|
NM_004821.3(HAND1):c.289G>T (p.Gly97Cys)
|
rs878854746
|
|
NM_004821.3(HAND1):c.29ATCACCACC[1] (p.His13_His15del)
|
|
|
NM_004821.3(HAND1):c.308A>G (p.Glu103Gly)
|
|
|
NM_004821.3(HAND1):c.339A>C (p.Ala113=)
|
|
|
NM_004821.3(HAND1):c.355G>C (p.Glu119Gln)
|
|
|
NM_004821.3(HAND1):c.364C>T (p.Pro122Ser)
|
|
|
NM_004821.3(HAND1):c.36C>A (p.His12Gln)
|
|
|
NM_004821.3(HAND1):c.370G>A (p.Val124Met)
|
|
|
NM_004821.3(HAND1):c.374C>G (p.Pro125Arg)
|
|
|
NM_004821.3(HAND1):c.374C>T (p.Pro125Leu)
|
|
|
NM_004821.3(HAND1):c.379G>T (p.Asp127Tyr)
|
|
|
NM_004821.3(HAND1):c.37C>T (p.His13Tyr)
|
|
|
NM_004821.3(HAND1):c.400A>T (p.Lys134Ter)
|
rs974646425
|
|
NM_004821.3(HAND1):c.420C>T (p.Thr140=)
|
|
|
NM_004821.3(HAND1):c.422G>A (p.Ser141Asn)
|
|
|
NM_004821.3(HAND1):c.447G>A (p.Val149=)
|
|
|
NM_004821.3(HAND1):c.455A>C (p.Lys152Thr)
|
|
|
NM_004821.3(HAND1):c.468T>C (p.Ser156=)
|
rs34402828
|
|
NM_004821.3(HAND1):c.473A>T (p.Asp158Val)
|
|
|
NM_004821.3(HAND1):c.479A>G (p.Glu160Gly)
|
|
|
NM_004821.3(HAND1):c.480G>A (p.Glu160=)
|
|
|
NM_004821.3(HAND1):c.496C>T (p.Leu166Phe)
|
rs2113303062
|
|
NM_004821.3(HAND1):c.500A>G (p.Lys167Arg)
|
|
|
NM_004821.3(HAND1):c.504G>A (p.Lys168=)
|
rs2113303031
|
|
NM_004821.3(HAND1):c.512G>A (p.Gly171Asp)
|
|
|
NM_004821.3(HAND1):c.516C>A (p.Gly172=)
|
|
|
NM_004821.3(HAND1):c.51C>G (p.His17Gln)
|
|
|
NM_004821.3(HAND1):c.535A>T (p.Arg179Trp)
|
|
|
NM_004821.3(HAND1):c.543+19A>T
|
|
|
NM_004821.3(HAND1):c.544-13T>G
|
|
|
NM_004821.3(HAND1):c.55_63dup (p.Pro21_Met22insAlaHisPro)
|
|
|
NM_004821.3(HAND1):c.564T>C (p.Pro188=)
|
rs1561710559
|
|
NM_004821.3(HAND1):c.565C>T (p.Pro189Ser)
|
|
|
NM_004821.3(HAND1):c.574G>A (p.Gly192Ser)
|
rs2113300916
|
|
NM_004821.3(HAND1):c.579A>C (p.Pro193=)
|
|
|
NM_004821.3(HAND1):c.587A>G (p.Lys196Arg)
|
rs878854747
|
|
NM_004821.3(HAND1):c.600A>C (p.Gly200=)
|
rs942295767
|
|
NM_004821.3(HAND1):c.600A>G (p.Gly200=)
|
|
|
NM_004821.3(HAND1):c.604A>G (p.Thr202Ala)
|
rs2113300864
|
|
NM_004821.3(HAND1):c.606C>T (p.Thr202=)
|
|
|
NM_004821.3(HAND1):c.608G>C (p.Gly203Ala)
|
|
|
NM_004821.3(HAND1):c.609C>G (p.Gly203=)
|
|
|
NM_004821.3(HAND1):c.615G>C (p.Pro205=)
|
|
|
NM_004821.3(HAND1):c.615G>T (p.Pro205=)
|
|
|
NM_004821.3(HAND1):c.62C>T (p.Pro21Leu)
|
rs780396101
|
|
NM_004821.3(HAND1):c.640A>C (p.Asn214His)
|
|
|
NM_004821.3(HAND1):c.647G>A (p.Ter216=)
|
|
|
NM_004821.3(HAND1):c.66_73dup (p.Glu25fs)
|
rs1193545616
|
|
NM_004821.3(HAND1):c.67C>T (p.Leu23Phe)
|
rs1389429025
|
|
NM_004821.3(HAND1):c.6C>A (p.Asn2Lys)
|
|
|
NM_004821.3(HAND1):c.72C>G (p.His24Gln)
|
|
|
NM_004821.3(HAND1):c.76C>T (p.Pro26Ser)
|
|
|
NM_004821.3(HAND1):c.7C>G (p.Leu3Val)
|
|
|
NM_004821.3(HAND1):c.88G>A (p.Gly30Ser)
|
|
|
NM_004821.3(HAND1):c.96C>T (p.Ala32=)
|
|
|
NM_005159.5(ACTC1):c.1005T>C (p.Pro335=)
|
rs1179163467
|
|
NM_005159.5(ACTC1):c.101C>A (p.Pro34Gln)
|
rs1373760624
|
|
NM_005159.5(ACTC1):c.101C>G (p.Pro34Arg)
|
rs1373760624
|
|
NM_005159.5(ACTC1):c.1029del (p.Ile343fs)
|
rs2140429044
|
|
NM_005159.5(ACTC1):c.1034G>C (p.Gly345Ala)
|
|
|
NM_005159.5(ACTC1):c.1034del (p.Gly345fs)
|
rs2140429038
|
|
NM_005159.5(ACTC1):c.1038C>T (p.Ser346=)
|
rs748062476
|
|
NM_005159.5(ACTC1):c.103T>G (p.Ser35Ala)
|
rs1595761987
|
|
NM_005159.5(ACTC1):c.1050T>A (p.Ser350=)
|
rs895745627
|
|
NM_005159.5(ACTC1):c.1053G>A (p.Leu351=)
|
rs151321743
|
|
NM_005159.5(ACTC1):c.1056C>T (p.Ser352=)
|
rs1595759957
|
|
NM_005159.5(ACTC1):c.1063C>T (p.Gln355Ter)
|
|
|
NM_005159.5(ACTC1):c.1067A>G (p.Gln356Arg)
|
rs2140428997
|
|
NM_005159.5(ACTC1):c.1070T>C (p.Met357Thr)
|
|
|
NM_005159.5(ACTC1):c.1079G>A (p.Ser360Asn)
|
|
|
NM_005159.5(ACTC1):c.1081A>G (p.Lys361Glu)
|
rs1595759946
|
|
NM_005159.5(ACTC1):c.1088A>G (p.Glu363Gly)
|
rs121912674
|
|
NM_005159.5(ACTC1):c.108C>G (p.Ile36Met)
|
|
|
NM_005159.5(ACTC1):c.1090T>A (p.Tyr364Asn)
|
rs1555418631
|
|
NM_005159.5(ACTC1):c.1093G>A (p.Asp365Asn)
|
rs2140428952
|
|
NM_005159.5(ACTC1):c.1093G>T (p.Asp365Tyr)
|
rs2140428952
|
|
NM_005159.5(ACTC1):c.1095T>C (p.Asp365=)
|
|
|
NM_005159.5(ACTC1):c.10G>A (p.Asp4Asn)
|
rs730880408
|
|
NM_005159.5(ACTC1):c.10G>C (p.Asp4His)
|
rs730880408
|
|
NM_005159.5(ACTC1):c.1100C>G (p.Ala367Gly)
|
rs2140428937
|
|
NM_005159.5(ACTC1):c.1107A>G (p.Pro369=)
|
|
|
NM_005159.5(ACTC1):c.1109C>G (p.Ser370Cys)
|
|
|
NM_005159.5(ACTC1):c.1112T>C (p.Ile371Thr)
|
rs730880407
|
|
NM_005159.5(ACTC1):c.1119C>T (p.His373=)
|
rs1208061059
|
|
NM_005159.5(ACTC1):c.1128C>T (p.Cys376=)
|
rs1891679853
|
|
NM_005159.5(ACTC1):c.1129T>G (p.Phe377Val)
|
rs2140428902
|
|
NM_005159.5(ACTC1):c.1133A>T (p.Ter378Leu)
|
|
|
NM_005159.5(ACTC1):c.120G>C (p.Pro40=)
|
rs766934253
|
|
NM_005159.5(ACTC1):c.123G>A (p.Arg41=)
|
|
|
NM_005159.5(ACTC1):c.124C>T (p.His42Tyr)
|
rs2140433161
|
|
NM_005159.5(ACTC1):c.129+10C>T
|
|
|
NM_005159.5(ACTC1):c.129+11C>T
|
|
|
NM_005159.5(ACTC1):c.129+14C>G
|
|
|
NM_005159.5(ACTC1):c.129+15G>A
|
|
|
NM_005159.5(ACTC1):c.129+17G>T
|
|
|
NM_005159.5(ACTC1):c.129+3A>G
|
rs763452221
|
|
NM_005159.5(ACTC1):c.129+6C>G
|
rs564151494
|
|
NM_005159.5(ACTC1):c.129+8T>A
|
|
|
NM_005159.5(ACTC1):c.12C>A (p.Asp4Glu)
|
rs768526036
|
|
NM_005159.5(ACTC1):c.130-11dup
|
rs2140432284
|
|
NM_005159.5(ACTC1):c.130-15T>G
|
rs376417852
|
|
NM_005159.5(ACTC1):c.130-18C>A
|
|
|
NM_005159.5(ACTC1):c.132A>C (p.Gly44=)
|
|
|
NM_005159.5(ACTC1):c.134T>C (p.Val45Ala)
|
rs1555418924
|
|
NM_005159.5(ACTC1):c.148G>A (p.Gly50Ser)
|
rs1555418921
|
|
NM_005159.5(ACTC1):c.150T>C (p.Gly50=)
|
|
|
NM_005159.5(ACTC1):c.151C>T (p.Gln51Ter)
|
|
|
NM_005159.5(ACTC1):c.155A>C (p.Lys52Thr)
|
rs2140432240
|
|
NM_005159.5(ACTC1):c.157G>A (p.Asp53Asn)
|
|
|
NM_005159.5(ACTC1):c.166G>A (p.Val56Ile)
|
rs944740404
|
|
NM_005159.5(ACTC1):c.166G>C (p.Val56Leu)
|
rs944740404
|
|
NM_005159.5(ACTC1):c.177A>G (p.Glu59=)
|
rs755858258
|
|
NM_005159.5(ACTC1):c.178G>A (p.Ala60Thr)
|
rs1555418912
|
|
NM_005159.5(ACTC1):c.188A>G (p.Lys63Arg)
|
rs794727502
|
|
NM_005159.5(ACTC1):c.191G>A (p.Arg64Lys)
|
rs869025353
|
|
NM_005159.5(ACTC1):c.195C>T (p.Gly65=)
|
|
|
NM_005159.5(ACTC1):c.1A>G (p.Met1Val)
|
|
|
NM_005159.5(ACTC1):c.201G>C (p.Leu67=)
|
|
|
NM_005159.5(ACTC1):c.204C>T (p.Thr68=)
|
rs1891751214
|
|
NM_005159.5(ACTC1):c.207G>C (p.Leu69=)
|
|
|
NM_005159.5(ACTC1):c.213T>C (p.Tyr71=)
|
|
|
NM_005159.5(ACTC1):c.220G>C (p.Glu74Gln)
|
|
|
NM_005159.5(ACTC1):c.22A>G (p.Thr8Ala)
|
rs730880390
|
|
NM_005159.5(ACTC1):c.234C>T (p.Ile78=)
|
rs1393400015
|
|
NM_005159.5(ACTC1):c.244G>A (p.Asp82Asn)
|
|
|
NM_005159.5(ACTC1):c.24C>T (p.Thr8=)
|
|
|
NM_005159.5(ACTC1):c.267C>T (p.His89=)
|
|
|
NM_005159.5(ACTC1):c.27C>T (p.Ala9=)
|
rs1595762043
|
|
NM_005159.5(ACTC1):c.281A>G (p.Asn94Ser)
|
rs767734253
|
|
NM_005159.5(ACTC1):c.285G>A (p.Glu95=)
|
rs1211913373
|
|
NM_005159.5(ACTC1):c.286C>T (p.Leu96Phe)
|
|
|
NM_005159.5(ACTC1):c.290G>A (p.Arg97His)
|
|
|
NM_005159.5(ACTC1):c.293T>C (p.Val98Ala)
|
rs1555418891
|
|
NM_005159.5(ACTC1):c.294G>T (p.Val98=)
|
rs397517058
|
|
NM_005159.5(ACTC1):c.296C>T (p.Ala99Val)
|
|
|
NM_005159.5(ACTC1):c.298C>A (p.Pro100Thr)
|
|
|
NM_005159.5(ACTC1):c.2T>C (p.Met1Thr)
|
rs781220417
|
|
NM_005159.5(ACTC1):c.300C>G (p.Pro100=)
|
|
|
NM_005159.5(ACTC1):c.302A>T (p.Glu101Val)
|
rs1891748027
|
|
NM_005159.5(ACTC1):c.309C>A (p.His103Gln)
|
rs769303249
|
|
NM_005159.5(ACTC1):c.30G>A (p.Leu10=)
|
|
|
NM_005159.5(ACTC1):c.30G>C (p.Leu10=)
|
|
|
NM_005159.5(ACTC1):c.310C>T (p.Pro104Ser)
|
rs397517059
|
|
NM_005159.5(ACTC1):c.312C>G (p.Pro104=)
|
|
|
NM_005159.5(ACTC1):c.312del (p.Thr105fs)
|
rs1891747424
|
|
NM_005159.5(ACTC1):c.314C>T (p.Thr105Ile)
|
|
|
NM_005159.5(ACTC1):c.31G>C (p.Val11Leu)
|
|
|
NM_005159.5(ACTC1):c.324A>T (p.Thr108=)
|
|
|
NM_005159.5(ACTC1):c.329C>T (p.Ala110Val)
|
|
|
NM_005159.5(ACTC1):c.332del (p.Pro111fs)
|
rs1891747102
|
|
NM_005159.5(ACTC1):c.337A>C (p.Asn113His)
|
|
|
NM_005159.5(ACTC1):c.337A>T (p.Asn113Tyr)
|
|
|
NM_005159.5(ACTC1):c.342C>T (p.Pro114=)
|
rs878854754
|
|
NM_005159.5(ACTC1):c.362T>C (p.Met121Thr)
|
rs1891746619
|
|
NM_005159.5(ACTC1):c.365C>T (p.Thr122Ile)
|
|
|
NM_005159.5(ACTC1):c.372C>G (p.Ile124Met)
|
rs397517061
|
|
NM_005159.5(ACTC1):c.374T>C (p.Met125Thr)
|
rs1595761344
|
|
NM_005159.5(ACTC1):c.375G>C (p.Met125Ile)
|
rs1595761338
|
|
NM_005159.5(ACTC1):c.376T>A (p.Phe126Ile)
|
|
|
NM_005159.5(ACTC1):c.382A>G (p.Thr128Ala)
|
rs1595761333
|
|
NM_005159.5(ACTC1):c.383C>A (p.Thr128Asn)
|
rs727504308
|
|
NM_005159.5(ACTC1):c.383C>T (p.Thr128Ile)
|
rs727504308
|
|
NM_005159.5(ACTC1):c.384C>T (p.Thr128=)
|
|
|
NM_005159.5(ACTC1):c.389A>G (p.Asn130Ser)
|
rs1595761325
|
|
NM_005159.5(ACTC1):c.397G>A (p.Ala133Thr)
|
rs1566967697
|
|
NM_005159.5(ACTC1):c.397G>C (p.Ala133Pro)
|
rs1566967697
|
|
NM_005159.5(ACTC1):c.398C>T (p.Ala133Val)
|
rs1257864393
|
|
NM_005159.5(ACTC1):c.408G>C (p.Val136=)
|
|
|
NM_005159.5(ACTC1):c.409G>A (p.Ala137Thr)
|
rs1891745022
|
|
NM_005159.5(ACTC1):c.40A>G (p.Asn14Asp)
|
|
|
NM_005159.5(ACTC1):c.410C>T (p.Ala137Val)
|
rs2140431775
|
|
NM_005159.5(ACTC1):c.421G>C (p.Val141Leu)
|
|
|
NM_005159.5(ACTC1):c.424C>G (p.Leu142Val)
|
|
|
NM_005159.5(ACTC1):c.42C>T (p.Asn14=)
|
rs1257278537
|
|
NM_005159.5(ACTC1):c.438T>C (p.Ala146=)
|
|
|
NM_005159.5(ACTC1):c.43G>C (p.Gly15Arg)
|
|
|
NM_005159.5(ACTC1):c.440C>G (p.Ser147Cys)
|
|
|
NM_005159.5(ACTC1):c.441del (p.Gly148fs)
|
|
|
NM_005159.5(ACTC1):c.451A>G (p.Thr151Ala)
|
|
|
NM_005159.5(ACTC1):c.452C>T (p.Thr151Ile)
|
|
|
NM_005159.5(ACTC1):c.454+13C>A
|
|
|
NM_005159.5(ACTC1):c.454+18G>A
|
|
|
NM_005159.5(ACTC1):c.454G>A (p.Gly152Ser)
|
rs1247069535
|
|
NM_005159.5(ACTC1):c.455-10C>T
|
|
|
NM_005159.5(ACTC1):c.455-12T>C
|
|
|
NM_005159.5(ACTC1):c.455-18G>C
|
rs925035661
|
|
NM_005159.5(ACTC1):c.455-4del
|
rs1178667520
|
|
NM_005159.5(ACTC1):c.455G>T (p.Gly152Val)
|
|
|
NM_005159.5(ACTC1):c.458T>C (p.Ile153Thr)
|
rs1555418843
|
|
NM_005159.5(ACTC1):c.459T>C (p.Ile153=)
|
rs2140431034
|
|
NM_005159.5(ACTC1):c.45C>T (p.Gly15=)
|
|
|
NM_005159.5(ACTC1):c.471T>C (p.Ser157=)
|
rs2140431029
|
|
NM_005159.5(ACTC1):c.473G>A (p.Gly158Glu)
|
rs2140431025
|
|
NM_005159.5(ACTC1):c.477T>G (p.Asp159Glu)
|
rs886039144
|
|
NM_005159.5(ACTC1):c.481G>A (p.Val161Ile)
|
|
|
NM_005159.5(ACTC1):c.482T>C (p.Val161Ala)
|
rs1060502824
|
|
NM_005159.5(ACTC1):c.485C>T (p.Thr162Ile)
|
rs1379875828
|
|
NM_005159.5(ACTC1):c.489C>T (p.His163=)
|
|
|
NM_005159.5(ACTC1):c.493G>A (p.Val165Ile)
|
rs2140431000
|
|
NM_005159.5(ACTC1):c.496C>T (p.Pro166Ser)
|
rs267606628
|
|
NM_005159.5(ACTC1):c.500T>C (p.Ile167Thr)
|
rs730880409
|
|
NM_005159.5(ACTC1):c.500T>G (p.Ile167Ser)
|
rs730880409
|
|
NM_005159.5(ACTC1):c.501C>G (p.Ile167Met)
|
rs1306504752
|
|
NM_005159.5(ACTC1):c.501C>T (p.Ile167=)
|
rs1306504752
|
|
NM_005159.5(ACTC1):c.504T>C (p.Tyr168=)
|
rs2140430970
|
|
NM_005159.5(ACTC1):c.507G>A (p.Glu169=)
|
rs1555418837
|
|
NM_005159.5(ACTC1):c.516T>C (p.Ala172=)
|
rs397517064
|
|
NM_005159.5(ACTC1):c.520C>A (p.Pro174Thr)
|
|
|
NM_005159.5(ACTC1):c.522C>T (p.Pro174=)
|
|
|
NM_005159.5(ACTC1):c.523dup (p.His175fs)
|
rs730880389
|
|
NM_005159.5(ACTC1):c.524A>C (p.His175Pro)
|
rs1566967487
|
|
NM_005159.5(ACTC1):c.525T>C (p.His175=)
|
rs2140430937
|
|
NM_005159.5(ACTC1):c.527C>T (p.Ala176Val)
|
rs2140430933
|
|
NM_005159.5(ACTC1):c.529A>G (p.Ile177Val)
|
rs730880392
|
|
NM_005159.5(ACTC1):c.529A>T (p.Ile177Phe)
|
|
|
NM_005159.5(ACTC1):c.52C>A (p.Leu18Met)
|
|
|
NM_005159.5(ACTC1):c.532A>T (p.Met178Leu)
|
rs1555418829
|
|
NM_005159.5(ACTC1):c.537T>A (p.Arg179=)
|
rs750131288
|
|
NM_005159.5(ACTC1):c.541G>A (p.Asp181Asn)
|
|
|
NM_005159.5(ACTC1):c.541G>C (p.Asp181His)
|
rs730880393
|
|
NM_005159.5(ACTC1):c.544C>A (p.Leu182Met)
|
|
|
NM_005159.5(ACTC1):c.554G>A (p.Arg185Gln)
|
|
|
NM_005159.5(ACTC1):c.555G>A (p.Arg185=)
|
|
|
NM_005159.5(ACTC1):c.556del (p.Asp186fs)
|
|
|
NM_005159.5(ACTC1):c.562A>G (p.Thr188Ala)
|
rs1555418824
|
|
NM_005159.5(ACTC1):c.563C>T (p.Thr188Ile)
|
rs730880394
|
|
NM_005159.5(ACTC1):c.565G>C (p.Asp189His)
|
|
|
NM_005159.5(ACTC1):c.566A>C (p.Asp189Ala)
|
rs2140430890
|
|
NM_005159.5(ACTC1):c.570C>T (p.Tyr190=)
|
rs1595760934
|
|
NM_005159.5(ACTC1):c.574A>G (p.Met192Val)
|
rs1555418823
|
|
NM_005159.5(ACTC1):c.578A>G (p.Lys193Arg)
|
|
|
NM_005159.5(ACTC1):c.579G>A (p.Lys193=)
|
|
|
NM_005159.5(ACTC1):c.579G>T (p.Lys193Asn)
|
rs730880395
|
|
NM_005159.5(ACTC1):c.581T>A (p.Ile194Asn)
|
|
|
NM_005159.5(ACTC1):c.583C>T (p.Leu195Phe)
|
rs1891723828
|
|
NM_005159.5(ACTC1):c.597C>A (p.Gly199=)
|
rs1595760921
|
|
NM_005159.5(ACTC1):c.599_602dup (p.Phe202fs)
|
rs2140430851
|
|
NM_005159.5(ACTC1):c.601T>C (p.Ser201Pro)
|
rs2140430853
|
|
NM_005159.5(ACTC1):c.607G>A (p.Val203Ile)
|
rs1060502822
|
|
NM_005159.5(ACTC1):c.616+10T>C
|
|
|
NM_005159.5(ACTC1):c.616+3G>A
|
|
|
NM_005159.5(ACTC1):c.616+4_616+7del
|
rs1891723274
|
|
NM_005159.5(ACTC1):c.616+5GT[4]
|
rs749539033
|
|
NM_005159.5(ACTC1):c.616+5GT[6]
|
|
|
NM_005159.5(ACTC1):c.616+7G>A
|
|
|
NM_005159.5(ACTC1):c.616+7G>T
|
|
|
NM_005159.5(ACTC1):c.617-11T>C
|
rs1891721032
|
|
NM_005159.5(ACTC1):c.61G>A (p.Ala21Thr)
|
|
|
NM_005159.5(ACTC1):c.62C>T (p.Ala21Val)
|
rs1060502823
|
|
NM_005159.5(ACTC1):c.634C>T (p.Arg212Cys)
|
rs1437269590
|
|
NM_005159.5(ACTC1):c.635G>A (p.Arg212His)
|
rs397517067
|
|
NM_005159.5(ACTC1):c.636T>C (p.Arg212=)
|
rs1595760838
|
|
NM_005159.5(ACTC1):c.639C>A (p.Asp213Glu)
|
|
|
NM_005159.5(ACTC1):c.648G>A (p.Glu216=)
|
|
|
NM_005159.5(ACTC1):c.652C>A (p.Leu218Met)
|
rs760269526
|
|
NM_005159.5(ACTC1):c.659A>T (p.Tyr220Phe)
|
|
|
NM_005159.5(ACTC1):c.664G>A (p.Ala222Thr)
|
rs1555418793
|
|
NM_005159.5(ACTC1):c.66C>T (p.Gly22=)
|
rs1060504729
|
|
NM_005159.5(ACTC1):c.671A>G (p.Asp224Gly)
|
|
|
NM_005159.5(ACTC1):c.67T>C (p.Phe23Leu)
|
rs193922681
|
|
NM_005159.5(ACTC1):c.687G>A (p.Met229Ile)
|
rs1595760799
|
|
NM_005159.5(ACTC1):c.689C>T (p.Ala230Val)
|
|
|
NM_005159.5(ACTC1):c.692C>T (p.Thr231Ile)
|
rs1060502825
|
|
NM_005159.5(ACTC1):c.695C>T (p.Ala232Val)
|
rs730880396
|
|
NM_005159.5(ACTC1):c.697G>C (p.Ala233Pro)
|
rs2140430611
|
|
NM_005159.5(ACTC1):c.699C>T (p.Ala233=)
|
rs1595760786
|
|
NM_005159.5(ACTC1):c.705C>T (p.Ser235=)
|
rs2140430606
|
|
NM_005159.5(ACTC1):c.707C>T (p.Ser236Phe)
|
rs1595760777
|
|
NM_005159.5(ACTC1):c.712C>T (p.Leu238=)
|
rs1891718902
|
|
NM_005159.5(ACTC1):c.713T>C (p.Leu238Pro)
|
rs770397773
|
|
NM_005159.5(ACTC1):c.723C>A (p.Ser241Arg)
|
rs1566967406
|
|
NM_005159.5(ACTC1):c.725A>G (p.Tyr242Cys)
|
rs2140430561
|
|
NM_005159.5(ACTC1):c.727G>C (p.Glu243Gln)
|
rs1891718487
|
|
NM_005159.5(ACTC1):c.72G>A (p.Ala24=)
|
|
|
NM_005159.5(ACTC1):c.72G>C (p.Ala24=)
|
rs778572289
|
|
NM_005159.5(ACTC1):c.730C>A (p.Leu244Met)
|
rs2140430556
|
|
NM_005159.5(ACTC1):c.733C>T (p.Pro245Ser)
|
|
|
NM_005159.5(ACTC1):c.740G>A (p.Gly247Asp)
|
rs1566967399
|
|
NM_005159.5(ACTC1):c.741C>A (p.Gly247=)
|
rs1595760747
|
|
NM_005159.5(ACTC1):c.744A>G (p.Gln248=)
|
|
|
NM_005159.5(ACTC1):c.753T>G (p.Thr251=)
|
rs1595760737
|
|
NM_005159.5(ACTC1):c.755T>C (p.Ile252Thr)
|
rs730880398
|
|
NM_005159.5(ACTC1):c.756T>G (p.Ile252Met)
|
rs371940910
|
|
NM_005159.5(ACTC1):c.758G>C (p.Gly253Ala)
|
|
|
NM_005159.5(ACTC1):c.75C>A (p.Gly25=)
|
|
|
NM_005159.5(ACTC1):c.75C>T (p.Gly25=)
|
rs144819872
|
|
NM_005159.5(ACTC1):c.768C>T (p.Arg256=)
|
|
|
NM_005159.5(ACTC1):c.76G>A (p.Asp26Asn)
|
rs727504399
|
|
NM_005159.5(ACTC1):c.778C>G (p.Pro260Ala)
|
|
|
NM_005159.5(ACTC1):c.784A>T (p.Thr262Ser)
|
rs1060502821
|
|
NM_005159.5(ACTC1):c.789C>T (p.Leu263=)
|
|
|
NM_005159.5(ACTC1):c.793C>G (p.Gln265Glu)
|
rs727504323
|
|
NM_005159.5(ACTC1):c.798C>G (p.Pro266=)
|
rs397517068
|
|
NM_005159.5(ACTC1):c.798C>T (p.Pro266=)
|
rs397517068
|
|
NM_005159.5(ACTC1):c.806T>C (p.Ile269Thr)
|
rs397517071
|
|
NM_005159.5(ACTC1):c.808+18G>A
|
|
|
NM_005159.5(ACTC1):c.808+1G>C
|
rs730880400
|
|
NM_005159.5(ACTC1):c.808+20G>A
|
|
|
NM_005159.5(ACTC1):c.808+3G>A
|
rs397517070
|
|
NM_005159.5(ACTC1):c.808+8G>T
|
|
|
NM_005159.5(ACTC1):c.808+9T>C
|
|
|
NM_005159.5(ACTC1):c.809-12A>G
|
rs587780846
|
|
NM_005159.5(ACTC1):c.809-12A>T
|
rs587780846
|
|
NM_005159.5(ACTC1):c.809-12_809-11insGT
|
rs774238821
|
|
NM_005159.5(ACTC1):c.809-12_809-11insGTGG
|
rs774238821
|
|
NM_005159.5(ACTC1):c.809-18_809-17insTGTGTA
|
rs1447068308
|
|
NM_005159.5(ACTC1):c.809-20_809-19insTGTA
|
rs1194538397
|
|
NM_005159.5(ACTC1):c.809-58TG[12]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[13]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[14]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[15]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[16]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[17]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[18]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[19]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[20]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[21]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[22]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[24]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[25]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[26]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[27]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[28]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[29]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[30]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[32]
|
|
|
NM_005159.5(ACTC1):c.809-8G>T
|
rs767180775
|
|
NM_005159.5(ACTC1):c.813G>A (p.Met271Ile)
|
rs1891698673
|
|
NM_005159.5(ACTC1):c.813G>T (p.Met271Ile)
|
|
|
NM_005159.5(ACTC1):c.82G>A (p.Ala28Thr)
|
|
|
NM_005159.5(ACTC1):c.83C>T (p.Ala28Val)
|
rs397517072
|
|
NM_005159.5(ACTC1):c.848G>C (p.Ser283Thr)
|
|
|
NM_005159.5(ACTC1):c.850A>T (p.Ile284Phe)
|
rs397517073
|
|
NM_005159.5(ACTC1):c.852C>T (p.Ile284=)
|
|
|
NM_005159.5(ACTC1):c.854T>A (p.Met285Lys)
|
rs869025354
|
|
NM_005159.5(ACTC1):c.854T>G (p.Met285Arg)
|
|
|
NM_005159.5(ACTC1):c.856A>G (p.Lys286Glu)
|
|
|
NM_005159.5(ACTC1):c.861T>C (p.Cys287=)
|
|
|
NM_005159.5(ACTC1):c.883C>A (p.Leu295Met)
|
rs2140429655
|
|
NM_005159.5(ACTC1):c.884T>A (p.Leu295Gln)
|
rs1891697323
|
|
NM_005159.5(ACTC1):c.885G>C (p.Leu295=)
|
rs2140429649
|
|
NM_005159.5(ACTC1):c.886T>A (p.Tyr296Asn)
|
rs730880402
|
|
NM_005159.5(ACTC1):c.889G>T (p.Ala297Ser)
|
rs121912675
|
|
NM_005159.5(ACTC1):c.892A>G (p.Asn298Asp)
|
rs1595760259
|
|
NM_005159.5(ACTC1):c.905C>A (p.Ser302Tyr)
|
|
|
NM_005159.5(ACTC1):c.906T>C (p.Ser302=)
|
rs2140429615
|
|
NM_005159.5(ACTC1):c.908G>T (p.Gly303Val)
|
rs1057518530
|
|
NM_005159.5(ACTC1):c.90C>A (p.Arg30=)
|
|
|
NM_005159.5(ACTC1):c.90C>T (p.Arg30=)
|
rs1555419004
|
|
NM_005159.5(ACTC1):c.911G>A (p.Gly304Asp)
|
rs1891696834
|
|
NM_005159.5(ACTC1):c.914C>T (p.Thr305Ile)
|
rs1891696768
|
|
NM_005159.5(ACTC1):c.915C>T (p.Thr305=)
|
rs1049511214
|
|
NM_005159.5(ACTC1):c.922T>C (p.Tyr308His)
|
rs1566967093
|
|
NM_005159.5(ACTC1):c.92C>T (p.Ala31Val)
|
|
|
NM_005159.5(ACTC1):c.930T>C (p.Gly310=)
|
rs561081869
|
|
NM_005159.5(ACTC1):c.934_935delinsT (p.Ala312fs)
|
rs1595760229
|
|
NM_005159.5(ACTC1):c.93T>A (p.Ala31=)
|
|
|
NM_005159.5(ACTC1):c.94G>A (p.Val32Ile)
|
rs1555419003
|
|
NM_005159.5(ACTC1):c.94G>C (p.Val32Leu)
|
|
|
NM_005159.5(ACTC1):c.950A>G (p.Lys317Arg)
|
|
|
NM_005159.5(ACTC1):c.951G>T (p.Lys317Asn)
|
|
|
NM_005159.5(ACTC1):c.957_959dup (p.Thr320dup)
|
rs1595760207
|
|
NM_005159.5(ACTC1):c.959C>T (p.Thr320Ile)
|
rs1891695680
|
|
NM_005159.5(ACTC1):c.962C>T (p.Ala321Val)
|
|
|
NM_005159.5(ACTC1):c.964C>G (p.Leu322Val)
|
rs1891695577
|
|
NM_005159.5(ACTC1):c.967G>C (p.Ala323Pro)
|
rs771011464
|
|
NM_005159.5(ACTC1):c.968C>T (p.Ala323Val)
|
rs730880404
|
|
NM_005159.5(ACTC1):c.969T>C (p.Ala323=)
|
|
|
NM_005159.5(ACTC1):c.970_973del (p.Pro324fs)
|
|
|
NM_005159.5(ACTC1):c.973A>G (p.Ser325Gly)
|
rs1555418679
|
|
NM_005159.5(ACTC1):c.975C>T (p.Ser325=)
|
rs939520463
|
|
NM_005159.5(ACTC1):c.986T>C (p.Ile329Thr)
|
rs730880410
|
|
NM_005159.5(ACTC1):c.990+14_990+15insAAAGAACTTTTGGGGGGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGATTTCTGCATTTCCATCTGAGGTACCNNNNNNNNNNAAAAAAAAAAAAAAAAA
|
rs2140429486
|
|
NM_005159.5(ACTC1):c.990+15T>C
|
|
|
NM_005159.5(ACTC1):c.990+6G>A
|
rs749154513
|
|
NM_005159.5(ACTC1):c.990+6G>C
|
|
|
NM_005159.5(ACTC1):c.990G>A (p.Lys330=)
|
|
|
NM_005159.5(ACTC1):c.991-10C>T
|
rs1298992263
|
|
NM_005159.5(ACTC1):c.991-10_991-8del
|
|
|
NM_005159.5(ACTC1):c.991-18T>G
|
rs1891683495
|
|
NM_005159.5(ACTC1):c.991-2del
|
|
|
NM_005159.5(ACTC1):c.991-8T>A
|
|
|
NM_005159.5(ACTC1):c.991A>G (p.Ile331Val)
|
rs730880405
|
|
NM_005159.5(ACTC1):c.993T>C (p.Ile331=)
|
|
|
NM_005159.5(ACTC1):c.997G>C (p.Ala333Pro)
|
rs267606629
|
|
NM_005159.5(ACTC1):c.998C>T (p.Ala333Val)
|
rs730880406
|
|
NM_005159.5(ACTC1):c.999T>C (p.Ala333=)
|
rs1891683050
|
|
NM_005159.5(ACTC1):c.9C>T (p.Asp3=)
|
rs535623090
|
|
NM_005184.4(CALM3):c.108G>A (p.Val36=)
|
|
|
NM_005184.4(CALM3):c.12G>A (p.Gln4=)
|
|
|
NM_005184.4(CALM3):c.131C>T (p.Pro44Leu)
|
rs1599758674
|
|
NM_005184.4(CALM3):c.132C>T (p.Pro44=)
|
|
|
NM_005184.4(CALM3):c.144G>A (p.Glu48=)
|
rs1599758683
|
|
NM_005184.4(CALM3):c.147G>A (p.Leu49=)
|
|
|
NM_005184.4(CALM3):c.147G>T (p.Leu49=)
|
rs760657005
|
|
NM_005184.4(CALM3):c.159C>A (p.Ile53=)
|
|
|
NM_005184.4(CALM3):c.159C>T (p.Ile53=)
|
|
|
NM_005184.4(CALM3):c.165G>A (p.Glu55=)
|
|
|
NM_005184.4(CALM3):c.174A>G (p.Ala58=)
|
rs2122245693
|
|
NM_005184.4(CALM3):c.178+12A>G
|
|
|
NM_005184.4(CALM3):c.179-13C>T
|
|
|
NM_005184.4(CALM3):c.179-14del
|
rs577585466
|
|
NM_005184.4(CALM3):c.179-3del
|
rs1446437806
|
|
NM_005184.4(CALM3):c.192T>A (p.Ile64=)
|
|
|
NM_005184.4(CALM3):c.213C>T (p.Thr71=)
|
|
|
NM_005184.4(CALM3):c.24G>C (p.Glu8Asp)
|
rs1001080500
|
|
NM_005184.4(CALM3):c.259C>T (p.Arg87Ter)
|
|
|
NM_005184.4(CALM3):c.273T>A (p.Arg91=)
|
rs559783307
|
|
NM_005184.4(CALM3):c.27G>A (p.Gln9=)
|
|
|
NM_005184.4(CALM3):c.281A>C (p.Asp94Ala)
|
rs1060502608
|
|
NM_005184.4(CALM3):c.285+17A>G
|
|
|
NM_005184.4(CALM3):c.286-4C>G
|
|
|
NM_005184.4(CALM3):c.286-8dup
|
rs2122249132
|
|
NM_005184.4(CALM3):c.286G>C (p.Asp96His)
|
rs1060502607
|
|
NM_005184.4(CALM3):c.3+11C>T
|
rs2122211406
|
|
NM_005184.4(CALM3):c.3+14G>C
|
|
|
NM_005184.4(CALM3):c.3+17G>A
|
|
|
NM_005184.4(CALM3):c.3+18G>A
|
rs767873951
|
|
NM_005184.4(CALM3):c.3+18dup
|
rs761428143
|
|
NM_005184.4(CALM3):c.3+19T>G
|
|
|
NM_005184.4(CALM3):c.308C>T (p.Ala103Val)
|
rs1568666713
|
|
NM_005184.4(CALM3):c.310G>A (p.Ala104Thr)
|
|
|
NM_005184.4(CALM3):c.318G>T (p.Leu106=)
|
|
|
NM_005184.4(CALM3):c.319C>T (p.Arg107Cys)
|
rs1599759441
|
|
NM_005184.4(CALM3):c.325G>A (p.Val109Ile)
|
|
|
NM_005184.4(CALM3):c.332C>T (p.Thr111Met)
|
|
|
NM_005184.4(CALM3):c.333G>C (p.Thr111=)
|
rs1274089736
|
|
NM_005184.4(CALM3):c.339G>C (p.Leu113=)
|
|
|
NM_005184.4(CALM3):c.34+11T>C
|
|
|
NM_005184.4(CALM3):c.34+3G>A
|
rs775799940
|
|
NM_005184.4(CALM3):c.34+7C>G
|
rs2122231385
|
|
NM_005184.4(CALM3):c.342G>A (p.Gly114=)
|
|
|
NM_005184.4(CALM3):c.35-13C>A
|
|
|
NM_005184.4(CALM3):c.35-14C>A
|
|
|
NM_005184.4(CALM3):c.35-14C>G
|
rs370430097
|
|
NM_005184.4(CALM3):c.35-14C>T
|
|
|
NM_005184.4(CALM3):c.35-18T>C
|
|
|
NM_005184.4(CALM3):c.35-18T>G
|
|
|
NM_005184.4(CALM3):c.35-19C>T
|
|
|
NM_005184.4(CALM3):c.35-9T>C
|
|
|
NM_005184.4(CALM3):c.363G>A (p.Glu121=)
|
|
|
NM_005184.4(CALM3):c.367G>A (p.Asp123Asn)
|
rs2122249867
|
|
NM_005184.4(CALM3):c.370G>A (p.Glu124Lys)
|
|
|
NM_005184.4(CALM3):c.387T>C (p.Ala129=)
|
rs1271316314
|
|
NM_005184.4(CALM3):c.388G>C (p.Asp130His)
|
rs1568666846
|
|
NM_005184.4(CALM3):c.390C>G (p.Asp130Glu)
|
rs35617141
|
|
NM_005184.4(CALM3):c.393C>T (p.Ile131=)
|
|
|
NM_005184.4(CALM3):c.394G>A (p.Asp132Asn)
|
rs2122250160
|
|
NM_005184.4(CALM3):c.395A>T (p.Asp132Val)
|
rs1057523474
|
|
NM_005184.4(CALM3):c.4-17C>G
|
rs370333318
|
|
NM_005184.4(CALM3):c.4-5T>C
|
rs2122231200
|
|
NM_005184.4(CALM3):c.4-6T>C
|
|
|
NM_005184.4(CALM3):c.404G>A (p.Gly135Asp)
|
rs1471376840
|
|
NM_005184.4(CALM3):c.421+10G>T
|
|
|
NM_005184.4(CALM3):c.421+14A>G
|
|
|
NM_005184.4(CALM3):c.421+16G>A
|
|
|
NM_005184.4(CALM3):c.421+18T>C
|
|
|
NM_005184.4(CALM3):c.421+5G>A
|
|
|
NM_005184.4(CALM3):c.421+6T>G
|
|
|
NM_005184.4(CALM3):c.421G>A (p.Glu141Lys)
|
rs1599759598
|
|
NM_005184.4(CALM3):c.422-20C>G
|
|
|
NM_005184.4(CALM3):c.422-3_422-2del
|
rs1971813349
|
|
NM_005184.4(CALM3):c.422-5C>T
|
|
|
NM_005184.4(CALM3):c.422-7T>C
|
|
|
NM_005184.4(CALM3):c.422-8C>T
|
rs1317120997
|
|
NM_005184.4(CALM3):c.422A>G (p.Glu141Gly)
|
rs1555814427
|
|
NM_005184.4(CALM3):c.426T>G (p.Phe142Leu)
|
|
|
NM_005184.4(CALM3):c.429A>G (p.Val143=)
|
rs2122252253
|
|
NM_005184.4(CALM3):c.442G>A (p.Ala148Thr)
|
|
|
NM_005184.4(CALM3):c.47C>G (p.Ala16Gly)
|
rs1599758635
|
|
NM_005184.4(CALM3):c.51C>T (p.Phe17=)
|
|
|
NM_005184.4(CALM3):c.57C>A (p.Leu19=)
|
|
|
NM_005184.4(CALM3):c.66G>A (p.Lys22=)
|
rs2122245298
|
|
NM_005184.4(CALM3):c.72A>G (p.Gly24=)
|
rs2122245344
|
|
NM_005184.4(CALM3):c.75T>C (p.Asp25=)
|
|
|
NM_005184.4(CALM3):c.81T>C (p.Thr27=)
|
|
|
NM_005257.6(GATA6):c.1000C>T (p.Pro334Ser)
|
|
|
NM_005257.6(GATA6):c.1002G>A (p.Pro334=)
|
|
|
NM_005257.6(GATA6):c.1005C>T (p.Ser335=)
|
rs2143278591
|
|
NM_005257.6(GATA6):c.1015C>T (p.Pro339Ser)
|
rs2033061691
|
|
NM_005257.6(GATA6):c.1021G>T (p.Val341Leu)
|
|
|
NM_005257.6(GATA6):c.1024G>C (p.Gly342Arg)
|
rs1468414837
|
|
NM_005257.6(GATA6):c.1025G>A (p.Gly342Glu)
|
rs1433160408
|
|
NM_005257.6(GATA6):c.1031C>T (p.Pro344Leu)
|
rs1598734418
|
|
NM_005257.6(GATA6):c.1050C>T (p.Pro350=)
|
rs976781879
|
|
NM_005257.6(GATA6):c.1051G>A (p.Ala351Thr)
|
rs1462457750
|
|
NM_005257.6(GATA6):c.1053C>G (p.Ala351=)
|
|
|
NM_005257.6(GATA6):c.1053C>T (p.Ala351=)
|
rs1399574460
|
|
NM_005257.6(GATA6):c.1054G>A (p.Gly352Arg)
|
rs1369316608
|
|
NM_005257.6(GATA6):c.1066A>C (p.Thr356Pro)
|
|
|
NM_005257.6(GATA6):c.1070C>T (p.Pro357Leu)
|
|
|
NM_005257.6(GATA6):c.1086G>T (p.Leu362=)
|
|
|
NM_005257.6(GATA6):c.1089G>T (p.Gln363His)
|
rs1253142325
|
|
NM_005257.6(GATA6):c.1096G>A (p.Ala366Thr)
|
|
|
NM_005257.6(GATA6):c.1099G>A (p.Gly367Arg)
|
|
|
NM_005257.6(GATA6):c.1104C>T (p.Ala368=)
|
|
|
NM_005257.6(GATA6):c.1106C>G (p.Pro369Arg)
|
|
|
NM_005257.6(GATA6):c.1107G>A (p.Pro369=)
|
|
|
NM_005257.6(GATA6):c.1108C>T (p.Leu370Phe)
|
rs922570984
|
|
NM_005257.6(GATA6):c.1112C>G (p.Pro371Arg)
|
|
|
NM_005257.6(GATA6):c.1119_1133dup (p.Ala378_Asp379insArgGlyProSerAla)
|
|
|
NM_005257.6(GATA6):c.1135+12G>C
|
|
|
NM_005257.6(GATA6):c.1135+14dup
|
rs943255115
|
|
NM_005257.6(GATA6):c.1135+16C>T
|
|
|
NM_005257.6(GATA6):c.1135+6G>A
|
|
|
NM_005257.6(GATA6):c.1135+6G>T
|
|
|
NM_005257.6(GATA6):c.1135+9C>T
|
rs76308670
|
|
NM_005257.6(GATA6):c.1136-14C>T
|
|
|
NM_005257.6(GATA6):c.1136-19C>A
|
|
|
NM_005257.6(GATA6):c.1140G>A (p.Leu380=)
|
|
|
NM_005257.6(GATA6):c.1142T>C (p.Leu381Pro)
|
rs1389738061
|
|
NM_005257.6(GATA6):c.1152G>T (p.Leu384=)
|
rs1479772095
|
|
NM_005257.6(GATA6):c.1155C>G (p.Ser385=)
|
|
|
NM_005257.6(GATA6):c.1157A>G (p.Glu386Gly)
|
rs1567995562
|
|
NM_005257.6(GATA6):c.1161C>T (p.Ser387=)
|
rs1481597424
|
|
NM_005257.6(GATA6):c.116T>C (p.Ile39Thr)
|
|
|
NM_005257.6(GATA6):c.1170C>T (p.Cys390=)
|
rs1192312578
|
|
NM_005257.6(GATA6):c.119C>T (p.Ser40Phe)
|
rs2033036579
|
|
NM_005257.6(GATA6):c.1209G>A (p.Arg403=)
|
rs2143289871
|
|
NM_005257.6(GATA6):c.1217C>G (p.Thr406Ser)
|
|
|
NM_005257.6(GATA6):c.1236C>T (p.Asn412=)
|
|
|
NM_005257.6(GATA6):c.1245G>T (p.Gly415=)
|
rs1180175270
|
|
NM_005257.6(GATA6):c.1246C>A (p.Leu416Ile)
|
|
|
NM_005257.6(GATA6):c.1246C>T (p.Leu416Phe)
|
rs2033130661
|
|
NM_005257.6(GATA6):c.1257G>A (p.Lys419=)
|
|
|
NM_005257.6(GATA6):c.1281C>T (p.Leu427=)
|
|
|
NM_005257.6(GATA6):c.128C>A (p.Ser43Tyr)
|
|
|
NM_005257.6(GATA6):c.128C>G (p.Ser43Cys)
|
|
|
NM_005257.6(GATA6):c.128CCT[2] (p.Ser45del)
|
rs1201519482
|
|
NM_005257.6(GATA6):c.1297C>T (p.Arg433Cys)
|
rs2033131746
|
|
NM_005257.6(GATA6):c.1299C>G (p.Arg433=)
|
rs887805315
|
|
NM_005257.6(GATA6):c.1301T>C (p.Val434Ala)
|
rs2033131897
|
|
NM_005257.6(GATA6):c.1302+12C>T
|
|
|
NM_005257.6(GATA6):c.1302+14G>A
|
|
|
NM_005257.6(GATA6):c.1302+20_1302+52del
|
|
|
NM_005257.6(GATA6):c.1303-13G>T
|
|
|
NM_005257.6(GATA6):c.1303-6T>C
|
rs1555629497
|
|
NM_005257.6(GATA6):c.1303-8G>C
|
|
|
NM_005257.6(GATA6):c.130T>G (p.Ser44Ala)
|
rs2143273972
|
|
NM_005257.6(GATA6):c.1313G>A (p.Arg438Gln)
|
|
|
NM_005257.6(GATA6):c.1320T>A (p.Leu440=)
|
rs146624465
|
|
NM_005257.6(GATA6):c.1320T>C (p.Leu440=)
|
rs146624465
|
|
NM_005257.6(GATA6):c.1321G>T (p.Gly441Ter)
|
rs2143300665
|
|
NM_005257.6(GATA6):c.1329C>G (p.Ser443=)
|
rs768460903
|
|
NM_005257.6(GATA6):c.1329C>T (p.Ser443=)
|
rs768460903
|
|
NM_005257.6(GATA6):c.1336A>G (p.Asn446Asp)
|
rs2143300702
|
|
NM_005257.6(GATA6):c.1343A>C (p.His448Pro)
|
rs1380534258
|
|
NM_005257.6(GATA6):c.134C>T (p.Ser45Phe)
|
|
|
NM_005257.6(GATA6):c.1350_1358del (p.Thr451_Thr453del)
|
rs2033195426
|
|
NM_005257.6(GATA6):c.1373A>G (p.Asn458Ser)
|
rs765926114
|
|
NM_005257.6(GATA6):c.1380G>A (p.Glu460=)
|
rs2143300898
|
|
NM_005257.6(GATA6):c.1382G>T (p.Gly461Val)
|
|
|
NM_005257.6(GATA6):c.1398T>C (p.Asn466=)
|
|
|
NM_005257.6(GATA6):c.140C>G (p.Ser47Cys)
|
|
|
NM_005257.6(GATA6):c.1418_1424del (p.Lys473fs)
|
rs2143300954
|
|
NM_005257.6(GATA6):c.1428+10G>A
|
|
|
NM_005257.6(GATA6):c.1428+9T>A
|
rs751665524
|
|
NM_005257.6(GATA6):c.1429-17A>G
|
|
|
NM_005257.6(GATA6):c.1457_1458del (p.Glu486fs)
|
rs1598737972
|
|
NM_005257.6(GATA6):c.1477C>T (p.Arg493Ter)
|
rs1598737976
|
|
NM_005257.6(GATA6):c.1488G>T (p.Lys496Asn)
|
|
|
NM_005257.6(GATA6):c.148_159dup (p.Gly53_Pro54insGlyGluArgGly)
|
|
|
NM_005257.6(GATA6):c.1492A>G (p.Ile498Val)
|
|
|
NM_005257.6(GATA6):c.1506G>T (p.Lys502Asn)
|
rs1598737982
|
|
NM_005257.6(GATA6):c.1515T>G (p.Ser505=)
|
rs770405157
|
|
NM_005257.6(GATA6):c.1516+15A>G
|
rs901042088
|
|
NM_005257.6(GATA6):c.1516+20G>A
|
|
|
NM_005257.6(GATA6):c.1516+20G>C
|
|
|
NM_005257.6(GATA6):c.151G>T (p.Glu51Ter)
|
|
|
NM_005257.6(GATA6):c.1529A>G (p.Asn510Ser)
|
|
|
NM_005257.6(GATA6):c.1559C>T (p.Ser520Phe)
|
|
|
NM_005257.6(GATA6):c.155G>C (p.Arg52Pro)
|
rs541150137
|
|
NM_005257.6(GATA6):c.1575T>G (p.Asp525Glu)
|
|
|
NM_005257.6(GATA6):c.1578C>T (p.Cys526=)
|
rs2033217814
|
|
NM_005257.6(GATA6):c.157G>A (p.Gly53Ser)
|
rs1311659713
|
|
NM_005257.6(GATA6):c.1596C>A (p.Pro532=)
|
|
|
NM_005257.6(GATA6):c.1596C>G (p.Pro532=)
|
|
|
NM_005257.6(GATA6):c.160C>G (p.Pro54Ala)
|
|
|
NM_005257.6(GATA6):c.160C>T (p.Pro54Ser)
|
|
|
NM_005257.6(GATA6):c.1617A>G (p.Ser539=)
|
|
|
NM_005257.6(GATA6):c.1618G>C (p.Gly540Arg)
|
|
|
NM_005257.6(GATA6):c.1620+18A>T
|
rs2143304391
|
|
NM_005257.6(GATA6):c.1620+19T>C
|
|
|
NM_005257.6(GATA6):c.1620+7A>T
|
|
|
NM_005257.6(GATA6):c.1621-14C>T
|
|
|
NM_005257.6(GATA6):c.1621-15C>T
|
|
|
NM_005257.6(GATA6):c.1621-20G>T
|
|
|
NM_005257.6(GATA6):c.1621G>A (p.Ala541Thr)
|
rs2143345732
|
|
NM_005257.6(GATA6):c.1622C>T (p.Ala541Val)
|
|
|
NM_005257.6(GATA6):c.1631C>A (p.Pro544Gln)
|
rs767156756
|
|
NM_005257.6(GATA6):c.1634T>A (p.Val545Glu)
|
|
|
NM_005257.6(GATA6):c.1634T>G (p.Val545Gly)
|
|
|
NM_005257.6(GATA6):c.1636A>G (p.Met546Val)
|
|
|
NM_005257.6(GATA6):c.1638G>T (p.Met546Ile)
|
|
|
NM_005257.6(GATA6):c.1647G>C (p.Ala549=)
|
|
|
NM_005257.6(GATA6):c.1653G>A (p.Glu551=)
|
rs564934973
|
|
NM_005257.6(GATA6):c.1653G>C (p.Glu551Asp)
|
rs564934973
|
|
NM_005257.6(GATA6):c.1654A>G (p.Ser552Gly)
|
rs747690300
|
|
NM_005257.6(GATA6):c.1660A>C (p.Asn554His)
|
|
|
NM_005257.6(GATA6):c.1665C>T (p.Pro555=)
|
|
|
NM_005257.6(GATA6):c.1688C>G (p.Ser563Trp)
|
|
|
NM_005257.6(GATA6):c.1689G>A (p.Ser563=)
|
|
|
NM_005257.6(GATA6):c.16G>C (p.Gly6Arg)
|
rs139750927
|
|
NM_005257.6(GATA6):c.1723G>T (p.Ala575Ser)
|
|
|
NM_005257.6(GATA6):c.1728G>A (p.Ser576=)
|
|
|
NM_005257.6(GATA6):c.172A>G (p.Ser58Gly)
|
rs924843423
|
|
NM_005257.6(GATA6):c.1749C>T (p.Ser583=)
|
rs142079702
|
|
NM_005257.6(GATA6):c.1754G>A (p.Arg585Gln)
|
rs201707559
|
|
NM_005257.6(GATA6):c.1756C>G (p.Pro586Ala)
|
|
|
NM_005257.6(GATA6):c.1764C>T (p.Ser588=)
|
rs1333538423
|
|
NM_005257.6(GATA6):c.1770C>T (p.Cys590=)
|
|
|
NM_005257.6(GATA6):c.1774C>G (p.Leu592Val)
|
rs774669486
|
|
NM_005257.6(GATA6):c.1774CTGGCC[3] (p.Ala595_Ter596insLeuAla)
|
|
|
NM_005257.6(GATA6):c.1784C>T (p.Ala595Val)
|
rs2143346650
|
|
NM_005257.6(GATA6):c.1785C>G (p.Ala595=)
|
rs766211079
|
|
NM_005257.6(GATA6):c.180C>G (p.Cys60Trp)
|
rs1431278250
|
|
NM_005257.6(GATA6):c.180C>T (p.Cys60=)
|
|
|
NM_005257.6(GATA6):c.186G>A (p.Thr62=)
|
|
|
NM_005257.6(GATA6):c.18C>A (p.Gly6=)
|
rs2143273333
|
|
NM_005257.6(GATA6):c.193C>A (p.Leu65Ile)
|
rs2143274330
|
|
NM_005257.6(GATA6):c.196G>A (p.Asp66Asn)
|
|
|
NM_005257.6(GATA6):c.196G>C (p.Asp66His)
|
rs554577705
|
|
NM_005257.6(GATA6):c.199A>G (p.Thr67Ala)
|
|
|
NM_005257.6(GATA6):c.19G>A (p.Gly7Ser)
|
|
|
NM_005257.6(GATA6):c.217C>A (p.Pro73Thr)
|
|
|
NM_005257.6(GATA6):c.233T>C (p.Leu78Pro)
|
rs1253034411
|
|
NM_005257.6(GATA6):c.234G>A (p.Leu78=)
|
|
|
NM_005257.6(GATA6):c.273C>A (p.Pro91=)
|
|
|
NM_005257.6(GATA6):c.291T>C (p.Pro97=)
|
|
|
NM_005257.6(GATA6):c.296T>C (p.Val99Ala)
|
|
|
NM_005257.6(GATA6):c.297C>T (p.Val99=)
|
rs2143275034
|
|
NM_005257.6(GATA6):c.2T>A (p.Met1Lys)
|
|
|
NM_005257.6(GATA6):c.300G>T (p.Ala100=)
|
rs767279089
|
|
NM_005257.6(GATA6):c.303C>T (p.Gly101=)
|
|
|
NM_005257.6(GATA6):c.308G>A (p.Gly103Glu)
|
rs1207902692
|
|
NM_005257.6(GATA6):c.329A>G (p.Glu110Gly)
|
|
|
NM_005257.6(GATA6):c.32C>T (p.Pro11Leu)
|
rs1598733637
|
|
NM_005257.6(GATA6):c.334_335delinsCG (p.Leu112Arg)
|
|
|
NM_005257.6(GATA6):c.336G>A (p.Leu112=)
|
|
|
NM_005257.6(GATA6):c.342G>A (p.Leu114=)
|
rs2143275390
|
|
NM_005257.6(GATA6):c.351C>G (p.Asp117Glu)
|
|
|
NM_005257.6(GATA6):c.358C>T (p.Gln120Ter)
|
|
|
NM_005257.6(GATA6):c.361G>A (p.Ala121Thr)
|
rs2143275441
|
|
NM_005257.6(GATA6):c.364G>A (p.Ala122Thr)
|
rs1245960637
|
|
NM_005257.6(GATA6):c.369C>T (p.Thr123=)
|
rs747422213
|
|
NM_005257.6(GATA6):c.373A>G (p.Ser125Gly)
|
|
|
NM_005257.6(GATA6):c.399C>T (p.Gly133=)
|
|
|
NM_005257.6(GATA6):c.400G>A (p.Ala134Thr)
|
|
|
NM_005257.6(GATA6):c.401C>A (p.Ala134Asp)
|
|
|
NM_005257.6(GATA6):c.422C>G (p.Pro141Arg)
|
rs2033047742
|
|
NM_005257.6(GATA6):c.423C>G (p.Pro141=)
|
|
|
NM_005257.6(GATA6):c.425A>G (p.Glu142Gly)
|
|
|
NM_005257.6(GATA6):c.431C>G (p.Pro144Arg)
|
|
|
NM_005257.6(GATA6):c.432G>A (p.Pro144=)
|
|
|
NM_005257.6(GATA6):c.433G>A (p.Glu145Lys)
|
rs1403238515
|
|
NM_005257.6(GATA6):c.433G>C (p.Glu145Gln)
|
rs1403238515
|
|
NM_005257.6(GATA6):c.43G>A (p.Gly15Arg)
|
rs116262672
|
|
NM_005257.6(GATA6):c.454G>T (p.Ala152Ser)
|
|
|
NM_005257.6(GATA6):c.457G>T (p.Ala153Ser)
|
rs1354600110
|
|
NM_005257.6(GATA6):c.460C>G (p.Leu154Val)
|
rs2143275968
|
|
NM_005257.6(GATA6):c.465C>T (p.Ser155=)
|
|
|
NM_005257.6(GATA6):c.474T>C (p.Gly158=)
|
|
|
NM_005257.6(GATA6):c.475C>T (p.Pro159Ser)
|
|
|
NM_005257.6(GATA6):c.481G>A (p.Ala161Thr)
|
rs559922666
|
|
NM_005257.6(GATA6):c.481G>T (p.Ala161Ser)
|
rs559922666
|
|
NM_005257.6(GATA6):c.48C>G (p.Ala16=)
|
rs764776127
|
|
NM_005257.6(GATA6):c.490G>A (p.Gly164Ser)
|
|
|
NM_005257.6(GATA6):c.499G>C (p.Gly167Arg)
|
rs770251106
|
|
NM_005257.6(GATA6):c.503G>A (p.Gly168Asp)
|
rs917494899
|
|
NM_005257.6(GATA6):c.507C>T (p.Phe169=)
|
|
|
NM_005257.6(GATA6):c.524C>T (p.Ala175Val)
|
|
|
NM_005257.6(GATA6):c.525G>T (p.Ala175=)
|
rs759587190
|
|
NM_005257.6(GATA6):c.52G>C (p.Gly18Arg)
|
rs2033034160
|
|
NM_005257.6(GATA6):c.531_545del (p.Ala179_Ala183del)
|
|
|
NM_005257.6(GATA6):c.531_548del (p.Ala178_Ala183del)
|
rs1198054146
|
|
NM_005257.6(GATA6):c.540GGC[4] (p.Ala183dup)
|
rs762101807
|
|
NM_005257.6(GATA6):c.545C>G (p.Ala182Gly)
|
|
|
NM_005257.6(GATA6):c.557C>G (p.Pro186Arg)
|
rs1385341551
|
|
NM_005257.6(GATA6):c.564C>T (p.Tyr188=)
|
|
|
NM_005257.6(GATA6):c.56C>A (p.Ala19Glu)
|
|
|
NM_005257.6(GATA6):c.576C>T (p.Thr192=)
|
rs2033051987
|
|
NM_005257.6(GATA6):c.57G>A (p.Ala19=)
|
rs764489452
|
|
NM_005257.6(GATA6):c.589A>G (p.Met197Val)
|
rs1245355073
|
|
NM_005257.6(GATA6):c.592C>A (p.Leu198Met)
|
rs387906814
|
|
NM_005257.6(GATA6):c.613C>T (p.Leu205=)
|
|
|
NM_005257.6(GATA6):c.616C>T (p.Gln206Ter)
|
|
|
NM_005257.6(GATA6):c.618G>A (p.Gln206=)
|
|
|
NM_005257.6(GATA6):c.621G>A (p.Gly207=)
|
|
|
NM_005257.6(GATA6):c.622T>A (p.Ser208Thr)
|
|
|
NM_005257.6(GATA6):c.627C>G (p.Gly209=)
|
|
|
NM_005257.6(GATA6):c.629G>C (p.Ser210Thr)
|
rs2143276783
|
|
NM_005257.6(GATA6):c.631G>C (p.Gly211Arg)
|
|
|
NM_005257.6(GATA6):c.637G>A (p.Ala213Thr)
|
|
|
NM_005257.6(GATA6):c.642C>G (p.Asn214Lys)
|
rs1369843629
|
|
NM_005257.6(GATA6):c.646G>A (p.Ala216Thr)
|
|
|
NM_005257.6(GATA6):c.648G>A (p.Ala216=)
|
|
|
NM_005257.6(GATA6):c.656C>A (p.Ala219Glu)
|
rs2033054015
|
|
NM_005257.6(GATA6):c.666C>T (p.His222=)
|
|
|
NM_005257.6(GATA6):c.667C>A (p.Pro223Thr)
|
|
|
NM_005257.6(GATA6):c.668C>T (p.Pro223Leu)
|
|
|
NM_005257.6(GATA6):c.670G>A (p.Gly224Ser)
|
|
|
NM_005257.6(GATA6):c.67_68delinsTT (p.Asp23Phe)
|
|
|
NM_005257.6(GATA6):c.682G>A (p.Ala228Thr)
|
|
|
NM_005257.6(GATA6):c.686C>G (p.Ser229Trp)
|
rs1420896186
|
|
NM_005257.6(GATA6):c.686C>T (p.Ser229Leu)
|
rs1420896186
|
|
NM_005257.6(GATA6):c.687G>C (p.Ser229=)
|
rs1189580893
|
|
NM_005257.6(GATA6):c.698C>A (p.Pro233His)
|
rs2143277046
|
|
NM_005257.6(GATA6):c.702A>C (p.Pro234=)
|
|
|
NM_005257.6(GATA6):c.704A>T (p.Tyr235Phe)
|
|
|
NM_005257.6(GATA6):c.706G>A (p.Gly236Ser)
|
rs904551659
|
|
NM_005257.6(GATA6):c.706G>C (p.Gly236Arg)
|
|
|
NM_005257.6(GATA6):c.706G>T (p.Gly236Cys)
|
rs904551659
|
|
NM_005257.6(GATA6):c.721G>C (p.Ala241Pro)
|
rs2143277140
|
|
NM_005257.6(GATA6):c.730G>A (p.Gly244Ser)
|
rs1355067748
|
|
NM_005257.6(GATA6):c.734_754del (p.Gly245_Gly251del)
|
|
|
NM_005257.6(GATA6):c.734_754dup (p.Gly245_Gly251dup)
|
rs1316111445
|
|
NM_005257.6(GATA6):c.740C>G (p.Ala247Gly)
|
rs2033055492
|
|
NM_005257.6(GATA6):c.740C>T (p.Ala247Val)
|
|
|
NM_005257.6(GATA6):c.743G>A (p.Gly248Glu)
|
rs1014382084
|
|
NM_005257.6(GATA6):c.749G>T (p.Gly250Val)
|
|
|
NM_005257.6(GATA6):c.750C>A (p.Gly250=)
|
rs1024528816
|
|
NM_005257.6(GATA6):c.750C>G (p.Gly250=)
|
|
|
NM_005257.6(GATA6):c.750C>T (p.Gly250=)
|
rs1024528816
|
|
NM_005257.6(GATA6):c.759C>T (p.Gly253=)
|
|
|
NM_005257.6(GATA6):c.765C>A (p.Ala255=)
|
rs926270539
|
|
NM_005257.6(GATA6):c.765C>G (p.Ala255=)
|
rs926270539
|
|
NM_005257.6(GATA6):c.765C>T (p.Ala255=)
|
rs926270539
|
|
NM_005257.6(GATA6):c.766G>A (p.Ala256Thr)
|
rs1555628783
|
|
NM_005257.6(GATA6):c.769G>A (p.Ala257Thr)
|
|
|
NM_005257.6(GATA6):c.771G>A (p.Ala257=)
|
|
|
NM_005257.6(GATA6):c.771G>T (p.Ala257=)
|
|
|
NM_005257.6(GATA6):c.779C>T (p.Ser260Leu)
|
|
|
NM_005257.6(GATA6):c.780G>T (p.Ser260=)
|
rs1157916092
|
|
NM_005257.6(GATA6):c.782C>T (p.Ala261Val)
|
|
|
NM_005257.6(GATA6):c.794A>G (p.Tyr265Cys)
|
|
|
NM_005257.6(GATA6):c.797C>G (p.Ser266Cys)
|
rs2143277461
|
|
NM_005257.6(GATA6):c.798T>C (p.Ser266=)
|
rs2143277468
|
|
NM_005257.6(GATA6):c.803G>C (p.Ser268Thr)
|
rs2033057141
|
|
NM_005257.6(GATA6):c.806C>G (p.Pro269Arg)
|
|
|
NM_005257.6(GATA6):c.810C>T (p.Pro270=)
|
rs2033057273
|
|
NM_005257.6(GATA6):c.812T>C (p.Met271Thr)
|
|
|
NM_005257.6(GATA6):c.819C>T (p.Asn273=)
|
rs943267073
|
|
NM_005257.6(GATA6):c.820G>T (p.Gly274Cys)
|
rs2033057411
|
|
NM_005257.6(GATA6):c.822C>T (p.Gly274=)
|
rs1598734312
|
|
NM_005257.6(GATA6):c.826G>A (p.Ala276Thr)
|
rs1555628811
|
|
NM_005257.6(GATA6):c.829C>T (p.Arg277Trp)
|
rs2143277600
|
|
NM_005257.6(GATA6):c.834G>T (p.Glu278Asp)
|
rs2033057637
|
|
NM_005257.6(GATA6):c.837G>T (p.Pro279=)
|
rs1350572697
|
|
NM_005257.6(GATA6):c.838G>T (p.Gly280Ter)
|
rs2033057699
|
|
NM_005257.6(GATA6):c.842G>C (p.Gly281Ala)
|
rs2143277659
|
|
NM_005257.6(GATA6):c.847G>A (p.Ala283Thr)
|
|
|
NM_005257.6(GATA6):c.851C>A (p.Ala284Glu)
|
rs185325359
|
|
NM_005257.6(GATA6):c.862G>C (p.Gly288Arg)
|
rs1268789855
|
|
NM_005257.6(GATA6):c.863G>A (p.Gly288Glu)
|
rs2143277784
|
|
NM_005257.6(GATA6):c.866G>A (p.Gly289Asp)
|
|
|
NM_005257.6(GATA6):c.867C>T (p.Gly289=)
|
|
|
NM_005257.6(GATA6):c.868G>A (p.Ala290Thr)
|
rs2033058388
|
|
NM_005257.6(GATA6):c.868G>T (p.Ala290Ser)
|
|
|
NM_005257.6(GATA6):c.86C>A (p.Ala29Glu)
|
rs1185015412
|
|
NM_005257.6(GATA6):c.879G>A (p.Val293=)
|
rs1311556193
|
|
NM_005257.6(GATA6):c.883G>A (p.Gly295Ser)
|
|
|
NM_005257.6(GATA6):c.883GGC[4] (p.Gly297dup)
|
rs1188366255
|
|
NM_005257.6(GATA6):c.886G>T (p.Gly296Cys)
|
|
|
NM_005257.6(GATA6):c.888C>T (p.Gly296=)
|
|
|
NM_005257.6(GATA6):c.889G>A (p.Gly297Ser)
|
rs2033058660
|
|
NM_005257.6(GATA6):c.889G>C (p.Gly297Arg)
|
|
|
NM_005257.6(GATA6):c.900G>C (p.Leu300=)
|
rs1060503826
|
|
NM_005257.6(GATA6):c.902C>A (p.Ala301Glu)
|
rs2033058989
|
|
NM_005257.6(GATA6):c.913G>A (p.Gly305Ser)
|
|
|
NM_005257.6(GATA6):c.916C>T (p.Arg306Cys)
|
|
|
NM_005257.6(GATA6):c.918C>G (p.Arg306=)
|
|
|
NM_005257.6(GATA6):c.91G>A (p.Glu31Lys)
|
rs780160108
|
|
NM_005257.6(GATA6):c.91G>C (p.Glu31Gln)
|
rs780160108
|
|
NM_005257.6(GATA6):c.923C>A (p.Pro308His)
|
|
|
NM_005257.6(GATA6):c.926A>G (p.Gln309Arg)
|
|
|
NM_005257.6(GATA6):c.929A>C (p.Tyr310Ser)
|
|
|
NM_005257.6(GATA6):c.936G>T (p.Ser312=)
|
|
|
NM_005257.6(GATA6):c.945C>T (p.Ala315=)
|
|
|
NM_005257.6(GATA6):c.946G>C (p.Ala316Pro)
|
|
|
NM_005257.6(GATA6):c.95C>T (p.Pro32Leu)
|
|
|
NM_005257.6(GATA6):c.969CCA[11] (p.His333dup)
|
rs562588574
|
|
NM_005257.6(GATA6):c.969CCA[5] (p.His329_His333del)
|
|
|
NM_005257.6(GATA6):c.969CCA[6] (p.His330_His333del)
|
rs562588574
|
|
NM_005257.6(GATA6):c.969CCA[7] (p.His331_His333del)
|
rs562588574
|
|
NM_005257.6(GATA6):c.969CCA[8] (p.His332_His333del)
|
rs562588574
|
|
NM_005257.6(GATA6):c.969CCA[9] (p.His333del)
|
rs562588574
|
|
NM_005257.6(GATA6):c.98C>A (p.Ser33Tyr)
|
|
|
NM_005257.6(GATA6):c.991_992insTGG (p.His331delinsLeuAsp)
|
|
|
NM_005257.6(GATA6):c.993C>G (p.His331Gln)
|
rs2143278462
|
|
NM_005257.6(GATA6):c.998_1000del (p.His333del)
|
rs763204851
|
|
NM_005751.5(AKAP9):c.10015T>A (p.Leu3339Met)
|
rs777913621
|
|
NM_005751.5(AKAP9):c.10019C>T (p.Pro3340Leu)
|
rs1011546142
|
|
NM_005751.5(AKAP9):c.10023A>C (p.Ser3341=)
|
|
|
NM_005751.5(AKAP9):c.10024G>A (p.Glu3342Lys)
|
|
|
NM_005751.5(AKAP9):c.1002A>G (p.Leu334=)
|
rs2130662396
|
|
NM_005751.5(AKAP9):c.10033C>A (p.Leu3345Met)
|
|
|
NM_005751.5(AKAP9):c.10056A>C (p.Leu3352=)
|
|
|
NM_005751.5(AKAP9):c.10062A>G (p.Glu3354=)
|
|
|
NM_005751.5(AKAP9):c.10063A>G (p.Lys3355Glu)
|
|
|
NM_005751.5(AKAP9):c.10073G>A (p.Arg3358His)
|
|
|
NM_005751.5(AKAP9):c.10081G>A (p.Glu3361Lys)
|
|
|
NM_005751.5(AKAP9):c.10118C>G (p.Ser3373Cys)
|
rs140470576
|
|
NM_005751.5(AKAP9):c.10121T>G (p.Leu3374Trp)
|
rs1816731476
|
|
NM_005751.5(AKAP9):c.10138del (p.Met3380fs)
|
rs1816735250
|
|
NM_005751.5(AKAP9):c.10142A>G (p.Glu3381Gly)
|
|
|
NM_005751.5(AKAP9):c.10144A>G (p.Lys3382Glu)
|
rs2130901610
|
|
NM_005751.5(AKAP9):c.10151G>A (p.Arg3384Lys)
|
|
|
NM_005751.5(AKAP9):c.10154A>G (p.Gln3385Arg)
|
|
|
NM_005751.5(AKAP9):c.10203A>G (p.Gly3401=)
|
rs2130901779
|
|
NM_005751.5(AKAP9):c.10215G>C (p.Met3405Ile)
|
|
|
NM_005751.5(AKAP9):c.10229C>A (p.Ser3410Tyr)
|
|
|
NM_005751.5(AKAP9):c.10229C>G (p.Ser3410Cys)
|
|
|
NM_005751.5(AKAP9):c.1022A>T (p.Glu341Val)
|
|
|
NM_005751.5(AKAP9):c.10231A>G (p.Lys3411Glu)
|
|
|
NM_005751.5(AKAP9):c.10233A>G (p.Lys3411=)
|
|
|
NM_005751.5(AKAP9):c.10236G>A (p.Val3412=)
|
rs878854805
|
|
NM_005751.5(AKAP9):c.10245T>A (p.Leu3415=)
|
rs2130901879
|
|
NM_005751.5(AKAP9):c.10272A>G (p.Gln3424=)
|
rs1397831091
|
|
NM_005751.5(AKAP9):c.10272A>T (p.Gln3424His)
|
rs1397831091
|
|
NM_005751.5(AKAP9):c.1027A>G (p.Lys343Glu)
|
rs1799080494
|
|
NM_005751.5(AKAP9):c.10291C>T (p.Leu3431Phe)
|
rs761824694
|
|
NM_005751.5(AKAP9):c.10305A>G (p.Arg3435=)
|
rs372493917
|
|
NM_005751.5(AKAP9):c.10310A>C (p.Gln3437Pro)
|
|
|
NM_005751.5(AKAP9):c.10319T>G (p.Met3440Arg)
|
rs751924200
|
|
NM_005751.5(AKAP9):c.10349G>A (p.Arg3450Gln)
|
rs548234238
|
|
NM_005751.5(AKAP9):c.10368T>C (p.Ser3456=)
|
|
|
NM_005751.5(AKAP9):c.1036C>G (p.Leu346Val)
|
|
|
NM_005751.5(AKAP9):c.10373G>T (p.Arg3458Ile)
|
rs775340634
|
|
NM_005751.5(AKAP9):c.1037T>C (p.Leu346Pro)
|
|
|
NM_005751.5(AKAP9):c.10389C>A (p.Asn3463Lys)
|
|
|
NM_005751.5(AKAP9):c.10392T>C (p.Leu3464=)
|
rs773258039
|
|
NM_005751.5(AKAP9):c.10398+12G>T
|
|
|
NM_005751.5(AKAP9):c.10417dup (p.Thr3473fs)
|
|
|
NM_005751.5(AKAP9):c.10426A>T (p.Arg3476Ter)
|
rs1063243
|
|
NM_005751.5(AKAP9):c.10435A>G (p.Asn3479Asp)
|
rs982934060
|
|
NM_005751.5(AKAP9):c.10447C>G (p.Gln3483Glu)
|
|
|
NM_005751.5(AKAP9):c.10486G>T (p.Ala3496Ser)
|
rs759219564
|
|
NM_005751.5(AKAP9):c.1048G>T (p.Asp350Tyr)
|
rs1060503579
|
|
NM_005751.5(AKAP9):c.10494G>T (p.Leu3498Phe)
|
rs1816853027
|
|
NM_005751.5(AKAP9):c.10528C>T (p.His3510Tyr)
|
|
|
NM_005751.5(AKAP9):c.10545C>A (p.Ile3515=)
|
|
|
NM_005751.5(AKAP9):c.10568C>T (p.Ala3523Val)
|
|
|
NM_005751.5(AKAP9):c.10589C>T (p.Pro3530Leu)
|
|
|
NM_005751.5(AKAP9):c.10600del (p.Ser3534fs)
|
|
|
NM_005751.5(AKAP9):c.10607+13T>C
|
|
|
NM_005751.5(AKAP9):c.10607+18G>T
|
|
|
NM_005751.5(AKAP9):c.10607+5G>C
|
|
|
NM_005751.5(AKAP9):c.10616T>C (p.Phe3539Ser)
|
|
|
NM_005751.5(AKAP9):c.10633G>C (p.Glu3545Gln)
|
rs1816925987
|
|
NM_005751.5(AKAP9):c.10653G>C (p.Gln3551His)
|
rs2130904180
|
|
NM_005751.5(AKAP9):c.10687A>G (p.Lys3563Glu)
|
rs1297567039
|
|
NM_005751.5(AKAP9):c.10691T>C (p.Leu3564Ser)
|
rs1563142906
|
|
NM_005751.5(AKAP9):c.10706G>C (p.Gly3569Ala)
|
rs754569380
|
|
NM_005751.5(AKAP9):c.10714-19C>A
|
|
|
NM_005751.5(AKAP9):c.10724T>C (p.Val3575Ala)
|
|
|
NM_005751.5(AKAP9):c.10748C>T (p.Ser3583Leu)
|
|
|
NM_005751.5(AKAP9):c.10755T>G (p.Thr3585=)
|
|
|
NM_005751.5(AKAP9):c.10793A>G (p.His3598Arg)
|
|
|
NM_005751.5(AKAP9):c.10796T>C (p.Ile3599Thr)
|
rs1817215778
|
|
NM_005751.5(AKAP9):c.10841T>C (p.Met3614Thr)
|
|
|
NM_005751.5(AKAP9):c.10859T>C (p.Ile3620Thr)
|
rs2130907392
|
|
NM_005751.5(AKAP9):c.10868A>G (p.Tyr3623Cys)
|
|
|
NM_005751.5(AKAP9):c.10872A>G (p.Arg3624=)
|
rs774938501
|
|
NM_005751.5(AKAP9):c.10896+3A>G
|
|
|
NM_005751.5(AKAP9):c.10897-10G>T
|
|
|
NM_005751.5(AKAP9):c.10897-12T>C
|
|
|
NM_005751.5(AKAP9):c.10925C>T (p.Ala3642Val)
|
rs1554468459
|
|
NM_005751.5(AKAP9):c.10931T>C (p.Ile3644Thr)
|
rs367598698
|
|
NM_005751.5(AKAP9):c.10946C>A (p.Ala3649Asp)
|
|
|
NM_005751.5(AKAP9):c.10962A>G (p.Val3654=)
|
rs2130909473
|
|
NM_005751.5(AKAP9):c.10975A>G (p.Lys3659Glu)
|
|
|
NM_005751.5(AKAP9):c.10978T>C (p.Leu3660=)
|
|
|
NM_005751.5(AKAP9):c.10991A>C (p.Lys3664Thr)
|
|
|
NM_005751.5(AKAP9):c.10997T>G (p.Leu3666Trp)
|
|
|
NM_005751.5(AKAP9):c.10G>C (p.Glu4Gln)
|
|
|
NM_005751.5(AKAP9):c.1101G>A (p.Val367=)
|
rs878854806
|
|
NM_005751.5(AKAP9):c.11021A>G (p.Tyr3674Cys)
|
|
|
NM_005751.5(AKAP9):c.11049C>T (p.Asp3683=)
|
|
|
NM_005751.5(AKAP9):c.1104A>T (p.Gln368His)
|
|
|
NM_005751.5(AKAP9):c.11071C>A (p.Pro3691Thr)
|
rs2130909748
|
|
NM_005751.5(AKAP9):c.11097+12C>T
|
|
|
NM_005751.5(AKAP9):c.11097+17A>G
|
rs375213627
|
|
NM_005751.5(AKAP9):c.11112A>G (p.Lys3704=)
|
rs749059291
|
|
NM_005751.5(AKAP9):c.11128A>G (p.Ser3710Gly)
|
|
|
NM_005751.5(AKAP9):c.11144T>C (p.Leu3715Pro)
|
rs2130913999
|
|
NM_005751.5(AKAP9):c.11179G>C (p.Gly3727Arg)
|
rs2130914041
|
|
NM_005751.5(AKAP9):c.11189A>G (p.Gln3730Arg)
|
rs372297197
|
|
NM_005751.5(AKAP9):c.11194T>A (p.Cys3732Ser)
|
|
|
NM_005751.5(AKAP9):c.11196T>C (p.Cys3732=)
|
rs755516007
|
|
NM_005751.5(AKAP9):c.11213C>T (p.Ala3738Val)
|
rs1157417207
|
|
NM_005751.5(AKAP9):c.11218C>T (p.Leu3740Phe)
|
|
|
NM_005751.5(AKAP9):c.11226G>A (p.Arg3742=)
|
|
|
NM_005751.5(AKAP9):c.11228T>G (p.Met3743Arg)
|
|
|
NM_005751.5(AKAP9):c.11229G>A (p.Met3743Ile)
|
rs143306820
|
|
NM_005751.5(AKAP9):c.11229G>C (p.Met3743Ile)
|
rs143306820
|
|
NM_005751.5(AKAP9):c.11229G>T (p.Met3743Ile)
|
rs143306820
|
|
NM_005751.5(AKAP9):c.11230G>C (p.Gly3744Arg)
|
rs200327385
|
|
NM_005751.5(AKAP9):c.11230G>T (p.Gly3744Trp)
|
rs200327385
|
|
NM_005751.5(AKAP9):c.11231G>C (p.Gly3744Ala)
|
rs148318643
|
|
NM_005751.5(AKAP9):c.11234G>T (p.Gly3745Val)
|
rs140853603
|
|
NM_005751.5(AKAP9):c.11235del (p.Gln3746fs)
|
|
|
NM_005751.5(AKAP9):c.11256A>G (p.Leu3752=)
|
|
|
NM_005751.5(AKAP9):c.11259G>C (p.Glu3753Asp)
|
|
|
NM_005751.5(AKAP9):c.11262G>A (p.Val3754=)
|
rs1346274347
|
|
NM_005751.5(AKAP9):c.11297G>T (p.Arg3766Leu)
|
rs137892407
|
|
NM_005751.5(AKAP9):c.11298G>A (p.Arg3766=)
|
rs775989174
|
|
NM_005751.5(AKAP9):c.11309G>C (p.Arg3770Thr)
|
rs372941888
|
|
NM_005751.5(AKAP9):c.11310A>G (p.Arg3770=)
|
|
|
NM_005751.5(AKAP9):c.11311G>A (p.Val3771Ile)
|
|
|
NM_005751.5(AKAP9):c.11330+19A>G
|
|
|
NM_005751.5(AKAP9):c.11330+9T>C
|
|
|
NM_005751.5(AKAP9):c.11335A>C (p.Lys3779Gln)
|
rs886062479
|
|
NM_005751.5(AKAP9):c.11366C>T (p.Thr3789Ile)
|
rs2130921556
|
|
NM_005751.5(AKAP9):c.11367A>G (p.Thr3789=)
|
|
|
NM_005751.5(AKAP9):c.11384A>G (p.Asn3795Ser)
|
|
|
NM_005751.5(AKAP9):c.1138C>G (p.Leu380Val)
|
|
|
NM_005751.5(AKAP9):c.11396A>T (p.Asp3799Val)
|
|
|
NM_005751.5(AKAP9):c.11407C>A (p.Leu3803Met)
|
|
|
NM_005751.5(AKAP9):c.11416+23del
|
|
|
NM_005751.5(AKAP9):c.11417-10del
|
|
|
NM_005751.5(AKAP9):c.11417-19A>G
|
|
|
NM_005751.5(AKAP9):c.11419G>A (p.Ala3807Thr)
|
rs1445749676
|
|
NM_005751.5(AKAP9):c.11425A>G (p.Lys3809Glu)
|
rs758073953
|
|
NM_005751.5(AKAP9):c.11431G>A (p.Asp3811Asn)
|
|
|
NM_005751.5(AKAP9):c.11435C>T (p.Ser3812Leu)
|
|
|
NM_005751.5(AKAP9):c.11452G>T (p.Gly3818Cys)
|
rs1563161103
|
|
NM_005751.5(AKAP9):c.11457G>C (p.Gly3819=)
|
rs2130924831
|
|
NM_005751.5(AKAP9):c.1145A>G (p.Asn382Ser)
|
|
|
NM_005751.5(AKAP9):c.11464T>C (p.Leu3822=)
|
|
|
NM_005751.5(AKAP9):c.11484T>A (p.His3828Gln)
|
rs538476247
|
|
NM_005751.5(AKAP9):c.11491T>C (p.Tyr3831His)
|
rs1818679501
|
|
NM_005751.5(AKAP9):c.1149T>C (p.Ser383=)
|
|
|
NM_005751.5(AKAP9):c.11525C>T (p.Ser3842Phe)
|
rs936516286
|
|
NM_005751.5(AKAP9):c.11543A>G (p.Asn3848Ser)
|
|
|
NM_005751.5(AKAP9):c.11546+7A>G
|
rs1818689531
|
|
NM_005751.5(AKAP9):c.11547-15T>G
|
|
|
NM_005751.5(AKAP9):c.11564C>T (p.Ala3855Val)
|
|
|
NM_005751.5(AKAP9):c.1158A>G (p.Lys386=)
|
|
|
NM_005751.5(AKAP9):c.1158A>T (p.Lys386Asn)
|
rs142673316
|
|
NM_005751.5(AKAP9):c.11596C>G (p.Gln3866Glu)
|
rs1352511944
|
|
NM_005751.5(AKAP9):c.11610C>T (p.Tyr3870=)
|
|
|
NM_005751.5(AKAP9):c.11611G>A (p.Asp3871Asn)
|
|
|
NM_005751.5(AKAP9):c.11611G>T (p.Asp3871Tyr)
|
|
|
NM_005751.5(AKAP9):c.11682G>A (p.Gln3894=)
|
rs769718964
|
|
NM_005751.5(AKAP9):c.11686+6_11686+7del
|
|
|
NM_005751.5(AKAP9):c.11686+8G>A
|
|
|
NM_005751.5(AKAP9):c.11686G>T (p.Gly3896Cys)
|
rs759598006
|
|
NM_005751.5(AKAP9):c.11687-3T>C
|
|
|
NM_005751.5(AKAP9):c.11687-5C>T
|
|
|
NM_005751.5(AKAP9):c.11687-8T>C
|
|
|
NM_005751.5(AKAP9):c.1183A>C (p.Lys395Gln)
|
|
|
NM_005751.5(AKAP9):c.1191A>G (p.Leu397=)
|
|
|
NM_005751.5(AKAP9):c.1194G>A (p.Met398Ile)
|
|
|
NM_005751.5(AKAP9):c.1200A>G (p.Thr400=)
|
|
|
NM_005751.5(AKAP9):c.1201G>T (p.Val401Phe)
|
|
|
NM_005751.5(AKAP9):c.1213C>G (p.Gln405Glu)
|
rs2130663364
|
|
NM_005751.5(AKAP9):c.1215G>A (p.Gln405=)
|
rs745393946
|
|
NM_005751.5(AKAP9):c.1230A>G (p.Lys410=)
|
|
|
NM_005751.5(AKAP9):c.1233C>T (p.Asp411=)
|
|
|
NM_005751.5(AKAP9):c.1242C>G (p.Phe414Leu)
|
|
|
NM_005751.5(AKAP9):c.1242C>T (p.Phe414=)
|
rs200250245
|
|
NM_005751.5(AKAP9):c.1247C>T (p.Thr416Ile)
|
|
|
NM_005751.5(AKAP9):c.1250A>G (p.Asp417Gly)
|
rs763158801
|
|
NM_005751.5(AKAP9):c.1253T>C (p.Ile418Thr)
|
rs752626437
|
|
NM_005751.5(AKAP9):c.1253T>G (p.Ile418Arg)
|
|
|
NM_005751.5(AKAP9):c.1261C>T (p.Arg421Ter)
|
rs1048028478
|
|
NM_005751.5(AKAP9):c.1262G>A (p.Arg421Gln)
|
rs864622705
|
|
NM_005751.5(AKAP9):c.1264A>C (p.Met422Leu)
|
rs1562958328
|
|
NM_005751.5(AKAP9):c.1265T>C (p.Met422Thr)
|
|
|
NM_005751.5(AKAP9):c.1278A>G (p.Thr426=)
|
|
|
NM_005751.5(AKAP9):c.1288_1289inv (p.Leu430Lys)
|
|
|
NM_005751.5(AKAP9):c.1295A>C (p.Gln432Pro)
|
|
|
NM_005751.5(AKAP9):c.1300C>T (p.Arg434Trp)
|
|
|
NM_005751.5(AKAP9):c.1320G>A (p.Met440Ile)
|
|
|
NM_005751.5(AKAP9):c.1341A>G (p.Gln447=)
|
|
|
NM_005751.5(AKAP9):c.134G>A (p.Ser45Asn)
|
|
|
NM_005751.5(AKAP9):c.1357A>G (p.Ile453Val)
|
rs1201114363
|
|
NM_005751.5(AKAP9):c.1364A>G (p.Gln455Arg)
|
rs763247535
|
|
NM_005751.5(AKAP9):c.1378A>T (p.Met460Leu)
|
rs751654728
|
|
NM_005751.5(AKAP9):c.1394C>T (p.Thr465Ile)
|
|
|
NM_005751.5(AKAP9):c.1405G>A (p.Gly469Arg)
|
|
|
NM_005751.5(AKAP9):c.1413G>A (p.Met471Ile)
|
rs1799153881
|
|
NM_005751.5(AKAP9):c.1415A>G (p.Glu472Gly)
|
|
|
NM_005751.5(AKAP9):c.1438A>G (p.Asn480Asp)
|
|
|
NM_005751.5(AKAP9):c.1456G>C (p.Asp486His)
|
rs2130664563
|
|
NM_005751.5(AKAP9):c.1469T>C (p.Leu490Ser)
|
rs2130664621
|
|
NM_005751.5(AKAP9):c.1483A>G (p.Ile495Val)
|
|
|
NM_005751.5(AKAP9):c.1514C>T (p.Thr505Ile)
|
|
|
NM_005751.5(AKAP9):c.1536C>A (p.Leu512=)
|
|
|
NM_005751.5(AKAP9):c.1549G>C (p.Gly517Arg)
|
|
|
NM_005751.5(AKAP9):c.155_156del (p.His52fs)
|
|
|
NM_005751.5(AKAP9):c.1580A>G (p.Gln527Arg)
|
|
|
NM_005751.5(AKAP9):c.1589T>A (p.Leu530His)
|
|
|
NM_005751.5(AKAP9):c.15G>T (p.Glu5Asp)
|
|
|
NM_005751.5(AKAP9):c.1605A>G (p.Glu535=)
|
|
|
NM_005751.5(AKAP9):c.1612A>G (p.Ser538Gly)
|
|
|
NM_005751.5(AKAP9):c.1635G>A (p.Gln545=)
|
rs1471564069
|
|
NM_005751.5(AKAP9):c.1644A>G (p.Arg548=)
|
rs886062468
|
|
NM_005751.5(AKAP9):c.1647G>A (p.Gln549=)
|
rs991776167
|
|
NM_005751.5(AKAP9):c.1650A>C (p.Thr550=)
|
rs2130665345
|
|
NM_005751.5(AKAP9):c.1655C>T (p.Ala552Val)
|
rs1359715379
|
|
NM_005751.5(AKAP9):c.1659A>G (p.Glu553=)
|
|
|
NM_005751.5(AKAP9):c.166A>G (p.Asn56Asp)
|
|
|
NM_005751.5(AKAP9):c.1706A>G (p.Glu569Gly)
|
rs1440127984
|
|
NM_005751.5(AKAP9):c.1711T>A (p.Leu571Met)
|
|
|
NM_005751.5(AKAP9):c.172G>A (p.Asp58Asn)
|
|
|
NM_005751.5(AKAP9):c.1732G>A (p.Ala578Thr)
|
rs2130665727
|
|
NM_005751.5(AKAP9):c.1743C>G (p.Ser581=)
|
rs749770109
|
|
NM_005751.5(AKAP9):c.1744A>G (p.Arg582Gly)
|
|
|
NM_005751.5(AKAP9):c.1754T>A (p.Leu585Gln)
|
rs757679497
|
|
NM_005751.5(AKAP9):c.1758A>G (p.Glu586=)
|
rs1554404361
|
|
NM_005751.5(AKAP9):c.1768G>A (p.Glu590Lys)
|
rs1799204480
|
|
NM_005751.5(AKAP9):c.1772C>G (p.Ala591Gly)
|
|
|
NM_005751.5(AKAP9):c.1774G>A (p.Glu592Lys)
|
|
|
NM_005751.5(AKAP9):c.1775A>C (p.Glu592Ala)
|
|
|
NM_005751.5(AKAP9):c.1783A>G (p.Asn595Asp)
|
|
|
NM_005751.5(AKAP9):c.17G>A (p.Arg6Lys)
|
|
|
NM_005751.5(AKAP9):c.1809AGAAAA[1] (p.604EK[1])
|
rs1455029822
|
|
NM_005751.5(AKAP9):c.1811A>G (p.Glu604Gly)
|
|
|
NM_005751.5(AKAP9):c.1821G>A (p.Lys607=)
|
|
|
NM_005751.5(AKAP9):c.1826C>A (p.Ala609Asp)
|
rs140973676
|
|
NM_005751.5(AKAP9):c.183G>A (p.Gln61=)
|
|
|
NM_005751.5(AKAP9):c.1841T>C (p.Met614Thr)
|
|
|
NM_005751.5(AKAP9):c.1857A>G (p.Glu619=)
|
rs2130666228
|
|
NM_005751.5(AKAP9):c.185G>A (p.Cys62Tyr)
|
rs1433559893
|
|
NM_005751.5(AKAP9):c.185G>C (p.Cys62Ser)
|
rs1433559893
|
|
NM_005751.5(AKAP9):c.1864T>C (p.Leu622=)
|
|
|
NM_005751.5(AKAP9):c.1879A>T (p.Thr627Ser)
|
|
|
NM_005751.5(AKAP9):c.1899C>T (p.His633=)
|
|
|
NM_005751.5(AKAP9):c.1928A>T (p.Asp643Val)
|
|
|
NM_005751.5(AKAP9):c.193A>G (p.Met65Val)
|
|
|
NM_005751.5(AKAP9):c.1945C>T (p.Arg649Ter)
|
rs779398715
|
|
NM_005751.5(AKAP9):c.1946G>A (p.Arg649Gln)
|
|
|
NM_005751.5(AKAP9):c.1957G>T (p.Glu653Ter)
|
|
|
NM_005751.5(AKAP9):c.1962A>T (p.Lys654Asn)
|
|
|
NM_005751.5(AKAP9):c.198C>T (p.Tyr66=)
|
|
|
NM_005751.5(AKAP9):c.2016T>C (p.Asn672=)
|
|
|
NM_005751.5(AKAP9):c.2019_2023del (p.Met674fs)
|
|
|
NM_005751.5(AKAP9):c.2065A>G (p.Ile689Val)
|
|
|
NM_005751.5(AKAP9):c.2069_2075del (p.Thr690fs)
|
rs1584040367
|
|
NM_005751.5(AKAP9):c.2072A>C (p.Lys691Thr)
|
|
|
NM_005751.5(AKAP9):c.2083T>C (p.Leu695=)
|
|
|
NM_005751.5(AKAP9):c.2084T>C (p.Leu695Ser)
|
rs1393038162
|
|
NM_005751.5(AKAP9):c.2110G>T (p.Asp704Tyr)
|
|
|
NM_005751.5(AKAP9):c.2122T>A (p.Ser708Thr)
|
|
|
NM_005751.5(AKAP9):c.2125C>T (p.Leu709Phe)
|
|
|
NM_005751.5(AKAP9):c.2150T>C (p.Met717Thr)
|
rs2130667121
|
|
NM_005751.5(AKAP9):c.2183T>C (p.Ile728Thr)
|
|
|
NM_005751.5(AKAP9):c.2191_2194del (p.Leu731fs)
|
|
|
NM_005751.5(AKAP9):c.2227C>A (p.Gln743Lys)
|
|
|
NM_005751.5(AKAP9):c.2228A>C (p.Gln743Pro)
|
|
|
NM_005751.5(AKAP9):c.2257_2258del (p.Glu753fs)
|
|
|
NM_005751.5(AKAP9):c.2259A>G (p.Glu753=)
|
rs2130667609
|
|
NM_005751.5(AKAP9):c.2275A>G (p.Met759Val)
|
rs1584041613
|
|
NM_005751.5(AKAP9):c.2284A>G (p.Lys762Glu)
|
rs776287498
|
|
NM_005751.5(AKAP9):c.2289G>A (p.Glu763=)
|
|
|
NM_005751.5(AKAP9):c.228T>A (p.Thr76=)
|
|
|
NM_005751.5(AKAP9):c.2305A>G (p.Lys769Glu)
|
rs1799261123
|
|
NM_005751.5(AKAP9):c.231G>T (p.Val77=)
|
rs2130563280
|
|
NM_005751.5(AKAP9):c.2325A>G (p.Ala775=)
|
rs1344474912
|
|
NM_005751.5(AKAP9):c.2330A>G (p.Asn777Ser)
|
|
|
NM_005751.5(AKAP9):c.2331T>C (p.Asn777=)
|
|
|
NM_005751.5(AKAP9):c.2356A>C (p.Thr786Pro)
|
rs1799267991
|
|
NM_005751.5(AKAP9):c.235C>T (p.Pro79Ser)
|
rs768026366
|
|
NM_005751.5(AKAP9):c.2362G>A (p.Glu788Lys)
|
|
|
NM_005751.5(AKAP9):c.2389G>A (p.Val797Ile)
|
rs971851892
|
|
NM_005751.5(AKAP9):c.2389G>T (p.Val797Phe)
|
|
|
NM_005751.5(AKAP9):c.2394C>T (p.Ser798=)
|
|
|
NM_005751.5(AKAP9):c.2425A>T (p.Ile809Phe)
|
rs144615758
|
|
NM_005751.5(AKAP9):c.2433C>G (p.Ser811=)
|
|
|
NM_005751.5(AKAP9):c.2435A>T (p.Lys812Ile)
|
|
|
NM_005751.5(AKAP9):c.2454G>A (p.Trp818Ter)
|
|
|
NM_005751.5(AKAP9):c.24G>A (p.Lys8=)
|
|
|
NM_005751.5(AKAP9):c.2506T>C (p.Cys836Arg)
|
|
|
NM_005751.5(AKAP9):c.2528T>C (p.Ile843Thr)
|
|
|
NM_005751.5(AKAP9):c.2529T>C (p.Ile843=)
|
|
|
NM_005751.5(AKAP9):c.2542A>G (p.Asn848Asp)
|
|
|
NM_005751.5(AKAP9):c.2550T>G (p.Phe850Leu)
|
rs1584043537
|
|
NM_005751.5(AKAP9):c.2567A>G (p.Asn856Ser)
|
|
|
NM_005751.5(AKAP9):c.2585_2586del (p.Gln862fs)
|
rs1799296048
|
|
NM_005751.5(AKAP9):c.2605G>T (p.Ala869Ser)
|
|
|
NM_005751.5(AKAP9):c.2612T>C (p.Leu871Pro)
|
|
|
NM_005751.5(AKAP9):c.2615T>G (p.Leu872Arg)
|
rs1306567728
|
|
NM_005751.5(AKAP9):c.264T>G (p.His88Gln)
|
rs1554389115
|
|
NM_005751.5(AKAP9):c.2673T>C (p.Ser891=)
|
|
|
NM_005751.5(AKAP9):c.2677_2681del (p.Leu893fs)
|
|
|
NM_005751.5(AKAP9):c.2684C>A (p.Ala895Glu)
|
rs1426532950
|
|
NM_005751.5(AKAP9):c.2694A>C (p.Glu898Asp)
|
|
|
NM_005751.5(AKAP9):c.2728G>C (p.Val910Leu)
|
rs564064961
|
|
NM_005751.5(AKAP9):c.2754T>C (p.Asp918=)
|
|
|
NM_005751.5(AKAP9):c.2758G>T (p.Asp920Tyr)
|
rs1584044970
|
|
NM_005751.5(AKAP9):c.2759A>G (p.Asp920Gly)
|
|
|
NM_005751.5(AKAP9):c.2762A>G (p.Lys921Arg)
|
rs1584045006
|
|
NM_005751.5(AKAP9):c.2779A>G (p.Thr927Ala)
|
rs1554405190
|
|
NM_005751.5(AKAP9):c.2801T>G (p.Val934Gly)
|
rs750000254
|
|
NM_005751.5(AKAP9):c.2809G>T (p.Asp937Tyr)
|
rs147543076
|
|
NM_005751.5(AKAP9):c.281G>T (p.Ser94Ile)
|
rs571281120
|
|
NM_005751.5(AKAP9):c.2836G>C (p.Glu946Gln)
|
|
|
NM_005751.5(AKAP9):c.2844C>G (p.Thr948=)
|
|
|
NM_005751.5(AKAP9):c.2849G>A (p.Arg950Gln)
|
|
|
NM_005751.5(AKAP9):c.2851G>C (p.Glu951Gln)
|
rs1799328599
|
|
NM_005751.5(AKAP9):c.2861A>G (p.Glu954Gly)
|
|
|
NM_005751.5(AKAP9):c.286G>A (p.Glu96Lys)
|
rs2130563549
|
|
NM_005751.5(AKAP9):c.2945C>A (p.Ser982Tyr)
|
rs374340343
|
|
NM_005751.5(AKAP9):c.2948_2952del (p.Leu983fs)
|
rs1799337589
|
|
NM_005751.5(AKAP9):c.2974T>C (p.Leu992=)
|
|
|
NM_005751.5(AKAP9):c.2978G>A (p.Arg993Lys)
|
|
|
NM_005751.5(AKAP9):c.2983A>G (p.Arg995Gly)
|
|
|
NM_005751.5(AKAP9):c.2998A>G (p.Ile1000Val)
|
|
|
NM_005751.5(AKAP9):c.29T>C (p.Leu10Pro)
|
rs2130422781
|
|
NM_005751.5(AKAP9):c.3038A>T (p.Asp1013Val)
|
rs1554405449
|
|
NM_005751.5(AKAP9):c.3041_3044del (p.Thr1014fs)
|
|
|
NM_005751.5(AKAP9):c.3047_3050del (p.Val1016fs)
|
rs1799349510
|
|
NM_005751.5(AKAP9):c.306+10C>T
|
|
|
NM_005751.5(AKAP9):c.307-5T>G
|
|
|
NM_005751.5(AKAP9):c.3071T>G (p.Val1024Gly)
|
|
|
NM_005751.5(AKAP9):c.3077T>G (p.Met1026Arg)
|
|
|
NM_005751.5(AKAP9):c.3085A>G (p.Arg1029Gly)
|
|
|
NM_005751.5(AKAP9):c.30G>T (p.Leu10=)
|
|
|
NM_005751.5(AKAP9):c.3108T>G (p.Ser1036=)
|
|
|
NM_005751.5(AKAP9):c.3116A>G (p.Asn1039Ser)
|
|
|
NM_005751.5(AKAP9):c.3118A>G (p.Lys1040Glu)
|
rs1265369157
|
|
NM_005751.5(AKAP9):c.3119A>T (p.Lys1040Ile)
|
|
|
NM_005751.5(AKAP9):c.3128G>C (p.Gly1043Ala)
|
rs2130671150
|
|
NM_005751.5(AKAP9):c.3155A>G (p.Asp1052Gly)
|
rs779035246
|
|
NM_005751.5(AKAP9):c.3181_3182del (p.Val1061fs)
|
|
|
NM_005751.5(AKAP9):c.3226C>G (p.Pro1076Ala)
|
rs774196711
|
|
NM_005751.5(AKAP9):c.323C>T (p.Ser108Leu)
|
|
|
NM_005751.5(AKAP9):c.3240G>T (p.Lys1080Asn)
|
|
|
NM_005751.5(AKAP9):c.3250C>T (p.Leu1084Phe)
|
|
|
NM_005751.5(AKAP9):c.3256G>A (p.Ala1086Thr)
|
|
|
NM_005751.5(AKAP9):c.325A>G (p.Thr109Ala)
|
|
|
NM_005751.5(AKAP9):c.3265C>T (p.Pro1089Ser)
|
rs1799379984
|
|
NM_005751.5(AKAP9):c.3275A>C (p.Asn1092Thr)
|
|
|
NM_005751.5(AKAP9):c.3298A>C (p.Asn1100His)
|
|
|
NM_005751.5(AKAP9):c.32A>G (p.Glu11Gly)
|
rs2130422799
|
|
NM_005751.5(AKAP9):c.3318+14_3318+16del
|
|
|
NM_005751.5(AKAP9):c.3318+20T>C
|
|
|
NM_005751.5(AKAP9):c.3318+9_3318+12del
|
|
|
NM_005751.5(AKAP9):c.3319-7_3319-3del
|
|
|
NM_005751.5(AKAP9):c.3358C>G (p.Leu1120Val)
|
rs1300887608
|
|
NM_005751.5(AKAP9):c.3365T>A (p.Leu1122Gln)
|
|
|
NM_005751.5(AKAP9):c.3377C>A (p.Thr1126Asn)
|
rs1263526528
|
|
NM_005751.5(AKAP9):c.3379C>G (p.His1127Asp)
|
rs1562978382
|
|
NM_005751.5(AKAP9):c.3380A>C (p.His1127Pro)
|
|
|
NM_005751.5(AKAP9):c.3381T>G (p.His1127Gln)
|
rs746651292
|
|
NM_005751.5(AKAP9):c.3391G>A (p.Val1131Ile)
|
rs1800893766
|
|
NM_005751.5(AKAP9):c.3395G>A (p.Arg1132His)
|
|
|
NM_005751.5(AKAP9):c.3401A>G (p.Tyr1134Cys)
|
|
|
NM_005751.5(AKAP9):c.3418G>A (p.Asp1140Asn)
|
|
|
NM_005751.5(AKAP9):c.3426T>C (p.Ala1142=)
|
rs758236336
|
|
NM_005751.5(AKAP9):c.3427C>G (p.Leu1143Val)
|
|
|
NM_005751.5(AKAP9):c.3432C>T (p.Cys1144=)
|
|
|
NM_005751.5(AKAP9):c.3460C>A (p.Gln1154Lys)
|
|
|
NM_005751.5(AKAP9):c.3469A>G (p.Lys1157Glu)
|
|
|
NM_005751.5(AKAP9):c.3493C>T (p.His1165Tyr)
|
|
|
NM_005751.5(AKAP9):c.3495C>G (p.His1165Gln)
|
rs1800906846
|
|
NM_005751.5(AKAP9):c.3517A>G (p.Lys1173Glu)
|
rs1800909715
|
|
NM_005751.5(AKAP9):c.3538G>A (p.Glu1180Lys)
|
rs1423656714
|
|
NM_005751.5(AKAP9):c.3553C>A (p.His1185Asn)
|
|
|
NM_005751.5(AKAP9):c.3557T>G (p.Leu1186Arg)
|
rs995498018
|
|
NM_005751.5(AKAP9):c.3564T>C (p.Ile1188=)
|
|
|
NM_005751.5(AKAP9):c.3564T>G (p.Ile1188Met)
|
|
|
NM_005751.5(AKAP9):c.3581C>G (p.Ala1194Gly)
|
|
|
NM_005751.5(AKAP9):c.3613-16A>G
|
|
|
NM_005751.5(AKAP9):c.3613-4A>G
|
rs1056194624
|
|
NM_005751.5(AKAP9):c.3630T>G (p.Leu1210=)
|
|
|
NM_005751.5(AKAP9):c.3631G>T (p.Gly1211Cys)
|
rs746335356
|
|
NM_005751.5(AKAP9):c.3643_3648del (p.Thr1215_Pro1216del)
|
rs1562986062
|
|
NM_005751.5(AKAP9):c.3659G>A (p.Cys1220Tyr)
|
rs375200151
|
|
NM_005751.5(AKAP9):c.3663A>G (p.Glu1221=)
|
|
|
NM_005751.5(AKAP9):c.3685A>G (p.Asn1229Asp)
|
rs763770694
|
|
NM_005751.5(AKAP9):c.3689C>G (p.Ser1230Cys)
|
|
|
NM_005751.5(AKAP9):c.3715G>C (p.Asp1239His)
|
|
|
NM_005751.5(AKAP9):c.3729A>G (p.Gln1243=)
|
rs1801493738
|
|
NM_005751.5(AKAP9):c.3751+17A>G
|
|
|
NM_005751.5(AKAP9):c.3751+6A>T
|
|
|
NM_005751.5(AKAP9):c.3752-12T>C
|
|
|
NM_005751.5(AKAP9):c.3757C>G (p.Gln1253Glu)
|
rs1801604245
|
|
NM_005751.5(AKAP9):c.3767T>G (p.Met1256Arg)
|
|
|
NM_005751.5(AKAP9):c.3769C>T (p.His1257Tyr)
|
|
|
NM_005751.5(AKAP9):c.3778C>A (p.Leu1260Ile)
|
|
|
NM_005751.5(AKAP9):c.3796G>A (p.Glu1266Lys)
|
rs1801612687
|
|
NM_005751.5(AKAP9):c.3808C>T (p.Leu1270Phe)
|
|
|
NM_005751.5(AKAP9):c.380C>T (p.Thr127Ile)
|
|
|
NM_005751.5(AKAP9):c.3826C>T (p.Arg1276Ter)
|
|
|
NM_005751.5(AKAP9):c.3828A>G (p.Arg1276=)
|
rs143259647
|
|
NM_005751.5(AKAP9):c.3837+5G>A
|
|
|
NM_005751.5(AKAP9):c.3838-4A>T
|
rs565812419
|
|
NM_005751.5(AKAP9):c.3844G>A (p.Gly1282Arg)
|
|
|
NM_005751.5(AKAP9):c.3853A>G (p.Thr1285Ala)
|
|
|
NM_005751.5(AKAP9):c.3857A>G (p.Asp1286Gly)
|
rs1802428673
|
|
NM_005751.5(AKAP9):c.3874T>C (p.Phe1292Leu)
|
rs886062472
|
|
NM_005751.5(AKAP9):c.387G>A (p.Lys129=)
|
|
|
NM_005751.5(AKAP9):c.3881A>G (p.Glu1294Gly)
|
|
|
NM_005751.5(AKAP9):c.3886A>G (p.Asn1296Asp)
|
rs753029277
|
|
NM_005751.5(AKAP9):c.3907G>C (p.Glu1303Gln)
|
rs1802434131
|
|
NM_005751.5(AKAP9):c.3919A>G (p.Ile1307Val)
|
|
|
NM_005751.5(AKAP9):c.392C>T (p.Thr131Ile)
|
rs751675949
|
|
NM_005751.5(AKAP9):c.3931A>T (p.Met1311Leu)
|
|
|
NM_005751.5(AKAP9):c.3947A>T (p.Asp1316Val)
|
|
|
NM_005751.5(AKAP9):c.394A>C (p.Asn132His)
|
rs755049262
|
|
NM_005751.5(AKAP9):c.394A>G (p.Asn132Asp)
|
rs755049262
|
|
NM_005751.5(AKAP9):c.3952+11A>T
|
|
|
NM_005751.5(AKAP9):c.3953-15_3953-12del
|
rs780465671
|
|
NM_005751.5(AKAP9):c.3953-19G>A
|
|
|
NM_005751.5(AKAP9):c.3953-5C>T
|
rs2130731737
|
|
NM_005751.5(AKAP9):c.3959A>G (p.Asn1320Ser)
|
|
|
NM_005751.5(AKAP9):c.3961C>A (p.His1321Asn)
|
rs2130731806
|
|
NM_005751.5(AKAP9):c.3968G>A (p.Ser1323Asn)
|
|
|
NM_005751.5(AKAP9):c.3975A>G (p.Leu1325=)
|
rs773067200
|
|
NM_005751.5(AKAP9):c.3984G>T (p.Leu1328=)
|
|
|
NM_005751.5(AKAP9):c.3991C>T (p.Leu1331Phe)
|
|
|
NM_005751.5(AKAP9):c.399A>G (p.Leu133=)
|
rs2130634149
|
|
NM_005751.5(AKAP9):c.39C>T (p.Gly13=)
|
rs1376652098
|
|
NM_005751.5(AKAP9):c.4014A>C (p.Glu1338Asp)
|
|
|
NM_005751.5(AKAP9):c.4022A>G (p.Gln1341Arg)
|
|
|
NM_005751.5(AKAP9):c.4026A>T (p.Glu1342Asp)
|
rs1802529842
|
|
NM_005751.5(AKAP9):c.4034G>C (p.Ser1345Thr)
|
|
|
NM_005751.5(AKAP9):c.4039A>G (p.Ile1347Val)
|
rs756091390
|
|
NM_005751.5(AKAP9):c.4041A>C (p.Ile1347=)
|
|
|
NM_005751.5(AKAP9):c.4041A>G (p.Ile1347Met)
|
rs1562998284
|
|
NM_005751.5(AKAP9):c.4055A>T (p.Gln1352Leu)
|
rs878854807
|
|
NM_005751.5(AKAP9):c.4070C>G (p.Thr1357Ser)
|
rs1227164653
|
|
NM_005751.5(AKAP9):c.4081T>A (p.Tyr1361Asn)
|
rs1584171307
|
|
NM_005751.5(AKAP9):c.4086G>A (p.Glu1362=)
|
rs2130732323
|
|
NM_005751.5(AKAP9):c.4096C>T (p.His1366Tyr)
|
|
|
NM_005751.5(AKAP9):c.4097A>G (p.His1366Arg)
|
rs777080528
|
|
NM_005751.5(AKAP9):c.4102T>A (p.Leu1368Ile)
|
rs1562998566
|
|
NM_005751.5(AKAP9):c.4103T>C (p.Leu1368Ser)
|
|
|
NM_005751.5(AKAP9):c.4114C>T (p.Leu1372Phe)
|
|
|
NM_005751.5(AKAP9):c.4130_4138del (p.Glu1377_Thr1379del)
|
rs774423206
|
|
NM_005751.5(AKAP9):c.4143G>T (p.Pro1381=)
|
|
|
NM_005751.5(AKAP9):c.4148+15A>G
|
|
|
NM_005751.5(AKAP9):c.4149-12A>G
|
rs768017962
|
|
NM_005751.5(AKAP9):c.4151T>A (p.Leu1384Ter)
|
|
|
NM_005751.5(AKAP9):c.4175C>T (p.Thr1392Ile)
|
|
|
NM_005751.5(AKAP9):c.419G>A (p.Gly140Asp)
|
rs1447648184
|
|
NM_005751.5(AKAP9):c.4225A>G (p.Asn1409Asp)
|
rs1292299879
|
|
NM_005751.5(AKAP9):c.4240A>G (p.Ile1414Val)
|
rs1006205177
|
|
NM_005751.5(AKAP9):c.4241del (p.Ile1414fs)
|
|
|
NM_005751.5(AKAP9):c.4245+13del
|
rs779223487
|
|
NM_005751.5(AKAP9):c.4245+15A>G
|
|
|
NM_005751.5(AKAP9):c.4246-9T>C
|
|
|
NM_005751.5(AKAP9):c.4248T>C (p.Phe1416=)
|
|
|
NM_005751.5(AKAP9):c.4266G>A (p.Val1422=)
|
rs1486993423
|
|
NM_005751.5(AKAP9):c.4270G>A (p.Glu1424Lys)
|
|
|
NM_005751.5(AKAP9):c.4277del (p.Thr1426fs)
|
rs2130757330
|
|
NM_005751.5(AKAP9):c.4280A>G (p.Asn1427Ser)
|
|
|
NM_005751.5(AKAP9):c.429T>C (p.Asp143=)
|
rs2130637240
|
|
NM_005751.5(AKAP9):c.4302A>G (p.Lys1434=)
|
rs1554422424
|
|
NM_005751.5(AKAP9):c.4304A>G (p.Gln1435Arg)
|
rs1584230123
|
|
NM_005751.5(AKAP9):c.4322AAG[2] (p.Glu1443del)
|
rs1416485911
|
|
NM_005751.5(AKAP9):c.4336A>C (p.Lys1446Gln)
|
|
|
NM_005751.5(AKAP9):c.4338+11A>G
|
|
|
NM_005751.5(AKAP9):c.4338+14T>G
|
|
|
NM_005751.5(AKAP9):c.4338+20G>A
|
|
|
NM_005751.5(AKAP9):c.4338+7T>G
|
|
|
NM_005751.5(AKAP9):c.4339-6C>A
|
rs1805528445
|
|
NM_005751.5(AKAP9):c.4348T>A (p.Ser1450Thr)
|
rs767289847
|
|
NM_005751.5(AKAP9):c.4351A>G (p.Met1451Val)
|
rs1330827109
|
|
NM_005751.5(AKAP9):c.4358T>G (p.Ile1453Arg)
|
|
|
NM_005751.5(AKAP9):c.4362A>C (p.Ala1454=)
|
|
|
NM_005751.5(AKAP9):c.4374A>G (p.Gln1458=)
|
|
|
NM_005751.5(AKAP9):c.4387A>G (p.Arg1463Gly)
|
|
|
NM_005751.5(AKAP9):c.4390A>G (p.Ile1464Val)
|
|
|
NM_005751.5(AKAP9):c.439G>C (p.Glu147Gln)
|
rs1797947770
|
|
NM_005751.5(AKAP9):c.4402A>C (p.Lys1468Gln)
|
|
|
NM_005751.5(AKAP9):c.4408A>G (p.Asn1470Asp)
|
|
|
NM_005751.5(AKAP9):c.4410T>C (p.Asn1470=)
|
|
|
NM_005751.5(AKAP9):c.441A>G (p.Glu147=)
|
rs185898118
|
|
NM_005751.5(AKAP9):c.441A>T (p.Glu147Asp)
|
rs185898118
|
|
NM_005751.5(AKAP9):c.4452A>G (p.Glu1484=)
|
rs2130776645
|
|
NM_005751.5(AKAP9):c.4453C>G (p.Gln1485Glu)
|
|
|
NM_005751.5(AKAP9):c.4486G>T (p.Asp1496Tyr)
|
rs1443301693
|
|
NM_005751.5(AKAP9):c.44C>T (p.Ala15Val)
|
|
|
NM_005751.5(AKAP9):c.4513A>G (p.Thr1505Ala)
|
rs1228321833
|
|
NM_005751.5(AKAP9):c.4534GAA[1] (p.Glu1513del)
|
rs764066037
|
|
NM_005751.5(AKAP9):c.453A>G (p.Gln151=)
|
rs1312487005
|
|
NM_005751.5(AKAP9):c.4563A>G (p.Leu1521=)
|
|
|
NM_005751.5(AKAP9):c.4604C>T (p.Pro1535Leu)
|
|
|
NM_005751.5(AKAP9):c.4607A>C (p.His1536Pro)
|
|
|
NM_005751.5(AKAP9):c.4614A>G (p.Ile1538Met)
|
|
|
NM_005751.5(AKAP9):c.4615C>T (p.Pro1539Ser)
|
rs916216692
|
|
NM_005751.5(AKAP9):c.4619A>G (p.Glu1540Gly)
|
|
|
NM_005751.5(AKAP9):c.462G>A (p.Pro154=)
|
|
|
NM_005751.5(AKAP9):c.4631G>C (p.Cys1544Ser)
|
|
|
NM_005751.5(AKAP9):c.4638_4641del (p.Thr1547fs)
|
rs751121443
|
|
NM_005751.5(AKAP9):c.463A>T (p.Thr155Ser)
|
|
|
NM_005751.5(AKAP9):c.4647A>G (p.Ser1549=)
|
rs199683551
|
|
NM_005751.5(AKAP9):c.464C>T (p.Thr155Ile)
|
rs142632541
|
|
NM_005751.5(AKAP9):c.4674A>G (p.Thr1558=)
|
|
|
NM_005751.5(AKAP9):c.4686_4689del (p.Arg1562fs)
|
|
|
NM_005751.5(AKAP9):c.4692+16T>C
|
|
|
NM_005751.5(AKAP9):c.4692+16T>G
|
|
|
NM_005751.5(AKAP9):c.4692+4A>G
|
|
|
NM_005751.5(AKAP9):c.4693-20T>G
|
|
|
NM_005751.5(AKAP9):c.4693-7A>G
|
rs774789362
|
|
NM_005751.5(AKAP9):c.4695T>C (p.Ile1565=)
|
rs1805948665
|
|
NM_005751.5(AKAP9):c.4707T>G (p.Ile1569Met)
|
rs1207821150
|
|
NM_005751.5(AKAP9):c.4724A>G (p.Asp1575Gly)
|
|
|
NM_005751.5(AKAP9):c.4724A>T (p.Asp1575Val)
|
rs145763255
|
|
NM_005751.5(AKAP9):c.4726G>A (p.Ala1576Thr)
|
rs868279502
|
|
NM_005751.5(AKAP9):c.4731T>C (p.Ser1577=)
|
rs1563032741
|
|
NM_005751.5(AKAP9):c.4744T>C (p.Leu1582=)
|
|
|
NM_005751.5(AKAP9):c.4751A>C (p.Glu1584Ala)
|
rs1805959363
|
|
NM_005751.5(AKAP9):c.4758G>A (p.Gln1586=)
|
|
|
NM_005751.5(AKAP9):c.4769T>G (p.Met1590Arg)
|
rs780941891
|
|
NM_005751.5(AKAP9):c.4772G>A (p.Arg1591Lys)
|
|
|
NM_005751.5(AKAP9):c.4779A>G (p.Glu1593=)
|
|
|
NM_005751.5(AKAP9):c.4784T>C (p.Val1595Ala)
|
|
|
NM_005751.5(AKAP9):c.4787G>T (p.Arg1596Leu)
|
|
|
NM_005751.5(AKAP9):c.4788A>G (p.Arg1596=)
|
|
|
NM_005751.5(AKAP9):c.4796A>G (p.Gln1599Arg)
|
|
|
NM_005751.5(AKAP9):c.48+10C>T
|
rs1217103896
|
|
NM_005751.5(AKAP9):c.48+14A>T
|
|
|
NM_005751.5(AKAP9):c.48+20C>T
|
|
|
NM_005751.5(AKAP9):c.48+5GA[3]
|
rs1554367063
|
|
NM_005751.5(AKAP9):c.4800A>T (p.Glu1600Asp)
|
rs138765069
|
|
NM_005751.5(AKAP9):c.4824A>G (p.Leu1608=)
|
|
|
NM_005751.5(AKAP9):c.4825_4826delinsCA (p.Arg1609Gln)
|
rs786205707
|
|
NM_005751.5(AKAP9):c.483A>G (p.Glu161=)
|
|
|
NM_005751.5(AKAP9):c.4850A>G (p.Glu1617Gly)
|
rs1805979251
|
|
NM_005751.5(AKAP9):c.485G>C (p.Ser162Thr)
|
rs759783541
|
|
NM_005751.5(AKAP9):c.4882G>A (p.Glu1628Lys)
|
|
|
NM_005751.5(AKAP9):c.4893G>A (p.Lys1631=)
|
|
|
NM_005751.5(AKAP9):c.4897C>T (p.Leu1633Phe)
|
|
|
NM_005751.5(AKAP9):c.4899T>C (p.Leu1633=)
|
|
|
NM_005751.5(AKAP9):c.49-3T>C
|
|
|
NM_005751.5(AKAP9):c.4916A>G (p.Gln1639Arg)
|
rs1805992353
|
|
NM_005751.5(AKAP9):c.4917+20C>A
|
|
|
NM_005751.5(AKAP9):c.4918-10dup
|
rs755283199
|
|
NM_005751.5(AKAP9):c.4918-12T>C
|
|
|
NM_005751.5(AKAP9):c.4923C>A (p.Ser1641=)
|
rs755109971
|
|
NM_005751.5(AKAP9):c.4927A>C (p.Ile1643Leu)
|
rs141990258
|
|
NM_005751.5(AKAP9):c.4952A>G (p.Glu1651Gly)
|
rs2130784355
|
|
NM_005751.5(AKAP9):c.4962G>C (p.Arg1654Ser)
|
rs746465984
|
|
NM_005751.5(AKAP9):c.4963del (p.Val1655fs)
|
rs1266814024
|
|
NM_005751.5(AKAP9):c.4969T>C (p.Leu1657=)
|
|
|
NM_005751.5(AKAP9):c.4970T>C (p.Leu1657Ser)
|
|
|
NM_005751.5(AKAP9):c.4995G>T (p.Gln1665His)
|
|
|
NM_005751.5(AKAP9):c.4998G>A (p.Leu1666=)
|
rs2130784499
|
|
NM_005751.5(AKAP9):c.5014G>A (p.Glu1672Lys)
|
|
|
NM_005751.5(AKAP9):c.5039A>G (p.Asn1680Ser)
|
|
|
NM_005751.5(AKAP9):c.5048C>G (p.Thr1683Arg)
|
rs146305558
|
|
NM_005751.5(AKAP9):c.5058+10A>G
|
|
|
NM_005751.5(AKAP9):c.5058+17C>T
|
rs751101680
|
|
NM_005751.5(AKAP9):c.5058+18C>A
|
|
|
NM_005751.5(AKAP9):c.5058+2T>C
|
|
|
NM_005751.5(AKAP9):c.5058+9G>C
|
rs750169072
|
|
NM_005751.5(AKAP9):c.5059-16A>G
|
|
|
NM_005751.5(AKAP9):c.5073C>T (p.Asn1691=)
|
rs2130785521
|
|
NM_005751.5(AKAP9):c.5078_5080del (p.Gly1693del)
|
rs771190405
|
|
NM_005751.5(AKAP9):c.510G>A (p.Glu170=)
|
|
|
NM_005751.5(AKAP9):c.5112A>G (p.Glu1704=)
|
|
|
NM_005751.5(AKAP9):c.5131_5132delinsTT (p.Asp1711Phe)
|
rs2130785629
|
|
NM_005751.5(AKAP9):c.5134G>A (p.Val1712Met)
|
|
|
NM_005751.5(AKAP9):c.5157T>C (p.Asn1719=)
|
rs1584285458
|
|
NM_005751.5(AKAP9):c.5162+14G>T
|
|
|
NM_005751.5(AKAP9):c.5162+3A>G
|
|
|
NM_005751.5(AKAP9):c.5162+5A>G
|
|
|
NM_005751.5(AKAP9):c.5163-10A>G
|
|
|
NM_005751.5(AKAP9):c.5163-6A>G
|
|
|
NM_005751.5(AKAP9):c.5168C>T (p.Ala1723Val)
|
|
|
NM_005751.5(AKAP9):c.5176A>G (p.Lys1726Glu)
|
rs779330917
|
|
NM_005751.5(AKAP9):c.5202C>T (p.Ile1734=)
|
|
|
NM_005751.5(AKAP9):c.5203C>T (p.Leu1735Phe)
|
rs1328671206
|
|
NM_005751.5(AKAP9):c.5217A>G (p.Val1739=)
|
|
|
NM_005751.5(AKAP9):c.5233G>C (p.Val1745Leu)
|
rs1060503578
|
|
NM_005751.5(AKAP9):c.5234T>C (p.Val1745Ala)
|
rs201632145
|
|
NM_005751.5(AKAP9):c.5243C>G (p.Thr1748Arg)
|
|
|
NM_005751.5(AKAP9):c.5252G>A (p.Arg1751His)
|
|
|
NM_005751.5(AKAP9):c.5258T>C (p.Val1753Ala)
|
rs1563041499
|
|
NM_005751.5(AKAP9):c.5264G>A (p.Gly1755Glu)
|
|
|
NM_005751.5(AKAP9):c.5265G>A (p.Gly1755=)
|
|
|
NM_005751.5(AKAP9):c.5285A>G (p.Lys1762Arg)
|
|
|
NM_005751.5(AKAP9):c.5332T>A (p.Ser1778Thr)
|
rs1554430888
|
|
NM_005751.5(AKAP9):c.5356G>A (p.Glu1786Lys)
|
rs377560937
|
|
NM_005751.5(AKAP9):c.5356G>C (p.Glu1786Gln)
|
|
|
NM_005751.5(AKAP9):c.5357A>G (p.Glu1786Gly)
|
|
|
NM_005751.5(AKAP9):c.5363C>G (p.Thr1788Arg)
|
rs757844124
|
|
NM_005751.5(AKAP9):c.5369-12C>G
|
|
|
NM_005751.5(AKAP9):c.5369-12C>T
|
|
|
NM_005751.5(AKAP9):c.5369-8T>C
|
rs2130804658
|
|
NM_005751.5(AKAP9):c.5434T>C (p.Ser1812Pro)
|
rs1554435152
|
|
NM_005751.5(AKAP9):c.5461C>T (p.Leu1821=)
|
|
|
NM_005751.5(AKAP9):c.546G>C (p.Arg182Ser)
|
|
|
NM_005751.5(AKAP9):c.5475T>C (p.Leu1825=)
|
rs2130804930
|
|
NM_005751.5(AKAP9):c.5476G>A (p.Val1826Met)
|
rs1554435236
|
|
NM_005751.5(AKAP9):c.547del (p.Val183fs)
|
|
|
NM_005751.5(AKAP9):c.5486G>A (p.Gly1829Asp)
|
|
|
NM_005751.5(AKAP9):c.5492C>A (p.Ala1831Asp)
|
|
|
NM_005751.5(AKAP9):c.5496A>G (p.Gly1832=)
|
rs886062474
|
|
NM_005751.5(AKAP9):c.5528T>C (p.Met1843Thr)
|
rs538621911
|
|
NM_005751.5(AKAP9):c.5555C>G (p.Ala1852Gly)
|
|
|
NM_005751.5(AKAP9):c.555T>A (p.Tyr185Ter)
|
|
|
NM_005751.5(AKAP9):c.5568A>G (p.Lys1856=)
|
rs886039192
|
|
NM_005751.5(AKAP9):c.5593A>C (p.Ser1865Arg)
|
|
|
NM_005751.5(AKAP9):c.5593A>G (p.Ser1865Gly)
|
|
|
NM_005751.5(AKAP9):c.5601+4A>C
|
|
|
NM_005751.5(AKAP9):c.5601+6C>T
|
|
|
NM_005751.5(AKAP9):c.5602-10C>T
|
|
|
NM_005751.5(AKAP9):c.5602-10_5602-9del
|
|
|
NM_005751.5(AKAP9):c.5612C>G (p.Ala1871Gly)
|
rs748884520
|
|
NM_005751.5(AKAP9):c.5612C>T (p.Ala1871Val)
|
rs748884520
|
|
NM_005751.5(AKAP9):c.5631G>A (p.Glu1877=)
|
|
|
NM_005751.5(AKAP9):c.5653C>G (p.Gln1885Glu)
|
rs1809744474
|
|
NM_005751.5(AKAP9):c.5660AAG[1] (p.Glu1888del)
|
rs2130821380
|
|
NM_005751.5(AKAP9):c.5678_5679insAAT (p.Leu1893_Lys1894insIle)
|
|
|
NM_005751.5(AKAP9):c.567A>G (p.Gly189=)
|
rs2130637941
|
|
NM_005751.5(AKAP9):c.5682G>C (p.Lys1894Asn)
|
|
|
NM_005751.5(AKAP9):c.5698C>G (p.Arg1900Gly)
|
rs978219635
|
|
NM_005751.5(AKAP9):c.5698C>T (p.Arg1900Ter)
|
rs978219635
|
|
NM_005751.5(AKAP9):c.5699G>A (p.Arg1900Gln)
|
|
|
NM_005751.5(AKAP9):c.5704C>T (p.Arg1902Cys)
|
|
|
NM_005751.5(AKAP9):c.5752A>G (p.Ser1918Gly)
|
rs1000673132
|
|
NM_005751.5(AKAP9):c.5754T>C (p.Ser1918=)
|
|
|
NM_005751.5(AKAP9):c.576+15T>G
|
rs2130638071
|
|
NM_005751.5(AKAP9):c.576+5G>A
|
|
|
NM_005751.5(AKAP9):c.576+5G>T
|
rs376631476
|
|
NM_005751.5(AKAP9):c.5761G>C (p.Glu1921Gln)
|
rs2130821673
|
|
NM_005751.5(AKAP9):c.5764+16T>C
|
|
|
NM_005751.5(AKAP9):c.5765-14A>G
|
|
|
NM_005751.5(AKAP9):c.576G>C (p.Gln192His)
|
rs749763833
|
|
NM_005751.5(AKAP9):c.5776G>A (p.Gly1926Ser)
|
|
|
NM_005751.5(AKAP9):c.5777_5778delinsAT (p.Gly1926Asp)
|
rs2130824016
|
|
NM_005751.5(AKAP9):c.5802T>C (p.Phe1934=)
|
rs771217403
|
|
NM_005751.5(AKAP9):c.582A>G (p.Gln194=)
|
|
|
NM_005751.5(AKAP9):c.5851_5852delinsTT (p.Glu1951Leu)
|
|
|
NM_005751.5(AKAP9):c.5853GTT[1] (p.Leu1953del)
|
|
|
NM_005751.5(AKAP9):c.5907C>A (p.Ile1969=)
|
rs1554440805
|
|
NM_005751.5(AKAP9):c.5910A>G (p.Gln1970=)
|
|
|
NM_005751.5(AKAP9):c.5923T>C (p.Leu1975=)
|
rs202199870
|
|
NM_005751.5(AKAP9):c.5947A>C (p.Met1983Leu)
|
|
|
NM_005751.5(AKAP9):c.5947A>G (p.Met1983Val)
|
rs766060779
|
|
NM_005751.5(AKAP9):c.5953del (p.Ala1985fs)
|
|
|
NM_005751.5(AKAP9):c.5956G>A (p.Glu1986Lys)
|
|
|
NM_005751.5(AKAP9):c.5967A>G (p.Pro1989=)
|
|
|
NM_005751.5(AKAP9):c.5968G>T (p.Val1990Phe)
|
rs767058162
|
|
NM_005751.5(AKAP9):c.5977+20G>T
|
|
|
NM_005751.5(AKAP9):c.5977+4_5977+7del
|
|
|
NM_005751.5(AKAP9):c.5978-18T>C
|
|
|
NM_005751.5(AKAP9):c.5978-1_5978del
|
rs2130830320
|
|
NM_005751.5(AKAP9):c.5979A>G (p.Gln1993=)
|
|
|
NM_005751.5(AKAP9):c.6002T>C (p.Leu2001Ser)
|
rs1810583297
|
|
NM_005751.5(AKAP9):c.6018A>G (p.Leu2006=)
|
rs547028589
|
|
NM_005751.5(AKAP9):c.6026A>G (p.Gln2009Arg)
|
|
|
NM_005751.5(AKAP9):c.6047G>A (p.Arg2016His)
|
|
|
NM_005751.5(AKAP9):c.6067G>A (p.Val2023Met)
|
|
|
NM_005751.5(AKAP9):c.6087T>G (p.Asp2029Glu)
|
rs771793410
|
|
NM_005751.5(AKAP9):c.6088G>C (p.Val2030Leu)
|
|
|
NM_005751.5(AKAP9):c.6098A>G (p.Gln2033Arg)
|
rs1810599049
|
|
NM_005751.5(AKAP9):c.6104G>A (p.Ser2035Asn)
|
rs1810600383
|
|
NM_005751.5(AKAP9):c.6123A>G (p.Glu2041=)
|
rs2130830658
|
|
NM_005751.5(AKAP9):c.6129A>G (p.Glu2043=)
|
rs1810606397
|
|
NM_005751.5(AKAP9):c.6146T>C (p.Met2049Thr)
|
rs1810610818
|
|
NM_005751.5(AKAP9):c.6166C>T (p.Gln2056Ter)
|
|
|
NM_005751.5(AKAP9):c.6209A>T (p.Asp2070Val)
|
|
|
NM_005751.5(AKAP9):c.6210+10C>T
|
|
|
NM_005751.5(AKAP9):c.6210+18G>A
|
|
|
NM_005751.5(AKAP9):c.6210+18G>T
|
rs768368516
|
|
NM_005751.5(AKAP9):c.622A>G (p.Thr208Ala)
|
|
|
NM_005751.5(AKAP9):c.6241G>C (p.Asp2081His)
|
rs1810782045
|
|
NM_005751.5(AKAP9):c.6252A>G (p.Gln2084=)
|
|
|
NM_005751.5(AKAP9):c.6265A>G (p.Lys2089Glu)
|
|
|
NM_005751.5(AKAP9):c.6282T>G (p.Leu2094=)
|
rs2130832903
|
|
NM_005751.5(AKAP9):c.6294T>C (p.Pro2098=)
|
rs780961744
|
|
NM_005751.5(AKAP9):c.62G>A (p.Arg21Gln)
|
|
|
NM_005751.5(AKAP9):c.6300C>G (p.Phe2100Leu)
|
|
|
NM_005751.5(AKAP9):c.6302A>G (p.Gln2101Arg)
|
rs201545032
|
|
NM_005751.5(AKAP9):c.6316C>T (p.His2106Tyr)
|
rs2130833023
|
|
NM_005751.5(AKAP9):c.6330+7A>G
|
|
|
NM_005751.5(AKAP9):c.6331-10T>G
|
|
|
NM_005751.5(AKAP9):c.6331-9A>G
|
|
|
NM_005751.5(AKAP9):c.6333T>C (p.Val2111=)
|
|
|
NM_005751.5(AKAP9):c.6343G>A (p.Ala2115Thr)
|
rs761921630
|
|
NM_005751.5(AKAP9):c.6344C>A (p.Ala2115Glu)
|
|
|
NM_005751.5(AKAP9):c.6357A>G (p.Lys2119=)
|
|
|
NM_005751.5(AKAP9):c.6382C>A (p.Leu2128Ile)
|
rs878854808
|
|
NM_005751.5(AKAP9):c.6392C>G (p.Ser2131Cys)
|
|
|
NM_005751.5(AKAP9):c.6394A>G (p.Lys2132Glu)
|
|
|
NM_005751.5(AKAP9):c.6459A>G (p.Val2153=)
|
|
|
NM_005751.5(AKAP9):c.6481C>T (p.Leu2161Phe)
|
|
|
NM_005751.5(AKAP9):c.6505A>C (p.Lys2169Gln)
|
|
|
NM_005751.5(AKAP9):c.6507+6G>A
|
rs140872685
|
|
NM_005751.5(AKAP9):c.6514G>T (p.Asp2172Tyr)
|
|
|
NM_005751.5(AKAP9):c.6517C>G (p.Arg2173Gly)
|
rs773455040
|
|
NM_005751.5(AKAP9):c.654A>G (p.Arg218=)
|
rs998815963
|
|
NM_005751.5(AKAP9):c.6557C>G (p.Ser2186Cys)
|
|
|
NM_005751.5(AKAP9):c.6565G>A (p.Val2189Ile)
|
rs536744826
|
|
NM_005751.5(AKAP9):c.656_660del (p.Arg219fs)
|
rs768274954
|
|
NM_005751.5(AKAP9):c.6596A>G (p.Asp2199Gly)
|
|
|
NM_005751.5(AKAP9):c.6612+16T>C
|
|
|
NM_005751.5(AKAP9):c.6613-18A>C
|
|
|
NM_005751.5(AKAP9):c.6641A>G (p.Gln2214Arg)
|
|
|
NM_005751.5(AKAP9):c.6679C>T (p.Gln2227Ter)
|
rs2130855904
|
|
NM_005751.5(AKAP9):c.669G>A (p.Glu223=)
|
|
|
NM_005751.5(AKAP9):c.6742G>C (p.Glu2248Gln)
|
|
|
NM_005751.5(AKAP9):c.6745C>G (p.Gln2249Glu)
|
|
|
NM_005751.5(AKAP9):c.6766-18A>C
|
|
|
NM_005751.5(AKAP9):c.6766-4C>T
|
rs1584452484
|
|
NM_005751.5(AKAP9):c.6797A>G (p.Lys2266Arg)
|
|
|
NM_005751.5(AKAP9):c.67A>G (p.Arg23Gly)
|
rs974543308
|
|
NM_005751.5(AKAP9):c.6801A>G (p.Glu2267=)
|
|
|
NM_005751.5(AKAP9):c.6805G>A (p.Asp2269Asn)
|
rs1353254249
|
|
NM_005751.5(AKAP9):c.6806A>G (p.Asp2269Gly)
|
|
|
NM_005751.5(AKAP9):c.6821A>C (p.Gln2274Pro)
|
|
|
NM_005751.5(AKAP9):c.6851C>T (p.Ala2284Val)
|
|
|
NM_005751.5(AKAP9):c.687A>G (p.Leu229=)
|
|
|
NM_005751.5(AKAP9):c.6880A>G (p.Ile2294Val)
|
|
|
NM_005751.5(AKAP9):c.6882T>G (p.Ile2294Met)
|
rs2130858119
|
|
NM_005751.5(AKAP9):c.6883G>A (p.Asp2295Asn)
|
rs1554449451
|
|
NM_005751.5(AKAP9):c.6885_6888del (p.Asp2295_Gln2296insTer)
|
|
|
NM_005751.5(AKAP9):c.6893A>G (p.Asn2298Ser)
|
rs1812855960
|
|
NM_005751.5(AKAP9):c.6898C>G (p.Gln2300Glu)
|
|
|
NM_005751.5(AKAP9):c.6946-11T>C
|
|
|
NM_005751.5(AKAP9):c.6946-3_6946-1del
|
|
|
NM_005751.5(AKAP9):c.6946-5A>G
|
|
|
NM_005751.5(AKAP9):c.6946-6del
|
rs750471110
|
|
NM_005751.5(AKAP9):c.6966A>G (p.Glu2322=)
|
rs878854809
|
|
NM_005751.5(AKAP9):c.696A>C (p.Thr232=)
|
|
|
NM_005751.5(AKAP9):c.6976G>A (p.Asp2326Asn)
|
rs1473941536
|
|
NM_005751.5(AKAP9):c.6G>A (p.Glu2=)
|
|
|
NM_005751.5(AKAP9):c.7031A>G (p.Asn2344Ser)
|
rs2130860716
|
|
NM_005751.5(AKAP9):c.7048G>C (p.Glu2350Gln)
|
rs2130860788
|
|
NM_005751.5(AKAP9):c.7068T>C (p.Ile2356=)
|
rs1584459436
|
|
NM_005751.5(AKAP9):c.7074A>C (p.Lys2358Asn)
|
rs150968594
|
|
NM_005751.5(AKAP9):c.7087T>C (p.Leu2363=)
|
rs2130860874
|
|
NM_005751.5(AKAP9):c.7090G>A (p.Ala2364Thr)
|
rs1408184706
|
|
NM_005751.5(AKAP9):c.7093A>C (p.Asn2365His)
|
|
|
NM_005751.5(AKAP9):c.7115T>C (p.Met2372Thr)
|
|
|
NM_005751.5(AKAP9):c.7131C>T (p.Leu2377=)
|
|
|
NM_005751.5(AKAP9):c.7140A>C (p.Glu2380Asp)
|
rs553736782
|
|
NM_005751.5(AKAP9):c.7140A>G (p.Glu2380=)
|
rs553736782
|
|
NM_005751.5(AKAP9):c.7167T>C (p.Asp2389=)
|
|
|
NM_005751.5(AKAP9):c.7168G>A (p.Val2390Met)
|
|
|
NM_005751.5(AKAP9):c.7169T>C (p.Val2390Ala)
|
|
|
NM_005751.5(AKAP9):c.7173T>C (p.Val2391=)
|
|
|
NM_005751.5(AKAP9):c.7188G>A (p.Leu2396=)
|
rs1554450559
|
|
NM_005751.5(AKAP9):c.7190C>G (p.Ala2397Gly)
|
rs372568340
|
|
NM_005751.5(AKAP9):c.719T>C (p.Ile240Thr)
|
|
|
NM_005751.5(AKAP9):c.7229C>A (p.Thr2410Asn)
|
|
|
NM_005751.5(AKAP9):c.7271A>C (p.Asn2424Thr)
|
|
|
NM_005751.5(AKAP9):c.7291T>C (p.Phe2431Leu)
|
rs1305633544
|
|
NM_005751.5(AKAP9):c.7292T>C (p.Phe2431Ser)
|
rs2130861406
|
|
NM_005751.5(AKAP9):c.732+11C>G
|
|
|
NM_005751.5(AKAP9):c.732+4_732+7del
|
rs1488983909
|
|
NM_005751.5(AKAP9):c.733-12_733-9del
|
rs771403705
|
|
NM_005751.5(AKAP9):c.733-17T>C
|
|
|
NM_005751.5(AKAP9):c.733-19G>A
|
rs540214739
|
|
NM_005751.5(AKAP9):c.733-7T>C
|
|
|
NM_005751.5(AKAP9):c.7330C>G (p.Gln2444Glu)
|
|
|
NM_005751.5(AKAP9):c.7346A>G (p.Asn2449Ser)
|
|
|
NM_005751.5(AKAP9):c.7357G>A (p.Val2453Met)
|
|
|
NM_005751.5(AKAP9):c.7357G>C (p.Val2453Leu)
|
|
|
NM_005751.5(AKAP9):c.7365A>G (p.Ile2455Met)
|
|
|
NM_005751.5(AKAP9):c.7404C>T (p.Val2468=)
|
|
|
NM_005751.5(AKAP9):c.740C>G (p.Ala247Gly)
|
|
|
NM_005751.5(AKAP9):c.7422T>C (p.Leu2474=)
|
rs1178839853
|
|
NM_005751.5(AKAP9):c.7440G>A (p.Gln2480=)
|
|
|
NM_005751.5(AKAP9):c.7443A>G (p.Thr2481=)
|
|
|
NM_005751.5(AKAP9):c.7453T>C (p.Ser2485Pro)
|
|
|
NM_005751.5(AKAP9):c.7459G>C (p.Glu2487Gln)
|
|
|
NM_005751.5(AKAP9):c.7474G>A (p.Gly2492Ser)
|
rs769994025
|
|
NM_005751.5(AKAP9):c.7482A>G (p.Ile2494Met)
|
|
|
NM_005751.5(AKAP9):c.7486A>G (p.Asn2496Asp)
|
rs886038911
|
|
NM_005751.5(AKAP9):c.7519A>G (p.Thr2507Ala)
|
rs2130862031
|
|
NM_005751.5(AKAP9):c.7526G>A (p.Ser2509Asn)
|
|
|
NM_005751.5(AKAP9):c.7530A>C (p.Ala2510=)
|
|
|
NM_005751.5(AKAP9):c.753G>A (p.Leu251=)
|
|
|
NM_005751.5(AKAP9):c.7551G>A (p.Gln2517=)
|
|
|
NM_005751.5(AKAP9):c.7578A>G (p.Gln2526=)
|
|
|
NM_005751.5(AKAP9):c.7579G>A (p.Glu2527Lys)
|
rs1554451207
|
|
NM_005751.5(AKAP9):c.7582C>G (p.Gln2528Glu)
|
|
|
NM_005751.5(AKAP9):c.7588C>A (p.Gln2530Lys)
|
rs1813203584
|
|
NM_005751.5(AKAP9):c.7606C>T (p.Leu2536Phe)
|
rs1554451226
|
|
NM_005751.5(AKAP9):c.7616A>G (p.Lys2539Arg)
|
|
|
NM_005751.5(AKAP9):c.7618A>G (p.Ile2540Val)
|
|
|
NM_005751.5(AKAP9):c.7629A>T (p.Leu2543=)
|
|
|
NM_005751.5(AKAP9):c.7651G>A (p.Val2551Met)
|
|
|
NM_005751.5(AKAP9):c.7657G>C (p.Ala2553Pro)
|
rs201627038
|
|
NM_005751.5(AKAP9):c.7700A>T (p.Tyr2567Phe)
|
|
|
NM_005751.5(AKAP9):c.7712G>A (p.Cys2571Tyr)
|
|
|
NM_005751.5(AKAP9):c.7726A>G (p.Thr2576Ala)
|
rs2130862491
|
|
NM_005751.5(AKAP9):c.7768A>T (p.Asn2590Tyr)
|
|
|
NM_005751.5(AKAP9):c.7773A>C (p.Gln2591His)
|
rs553800160
|
|
NM_005751.5(AKAP9):c.7814C>T (p.Thr2605Ile)
|
rs2130862701
|
|
NM_005751.5(AKAP9):c.7816T>G (p.Leu2606Val)
|
rs774041291
|
|
NM_005751.5(AKAP9):c.7821A>T (p.Arg2607Ser)
|
|
|
NM_005751.5(AKAP9):c.7843del (p.Val2615fs)
|
rs1813241938
|
|
NM_005751.5(AKAP9):c.7856A>G (p.His2619Arg)
|
rs1813243568
|
|
NM_005751.5(AKAP9):c.7857T>C (p.His2619=)
|
|
|
NM_005751.5(AKAP9):c.7862G>A (p.Ser2621Asn)
|
rs1290337696
|
|
NM_005751.5(AKAP9):c.7865T>C (p.Leu2622Ser)
|
|
|
NM_005751.5(AKAP9):c.7885G>C (p.Val2629Leu)
|
rs2130862834
|
|
NM_005751.5(AKAP9):c.7890A>T (p.Glu2630Asp)
|
|
|
NM_005751.5(AKAP9):c.78G>A (p.Gln26=)
|
rs1030567089
|
|
NM_005751.5(AKAP9):c.7905T>G (p.Asn2635Lys)
|
rs1344028429
|
|
NM_005751.5(AKAP9):c.7906G>A (p.Val2636Ile)
|
rs1183671911
|
|
NM_005751.5(AKAP9):c.7919A>C (p.Glu2640Ala)
|
|
|
NM_005751.5(AKAP9):c.7921AAG[1] (p.Lys2642del)
|
rs786205262
|
|
NM_005751.5(AKAP9):c.7938A>G (p.Leu2646=)
|
|
|
NM_005751.5(AKAP9):c.7941G>A (p.Gln2647=)
|
rs2130862979
|
|
NM_005751.5(AKAP9):c.7965A>G (p.Lys2655=)
|
|
|
NM_005751.5(AKAP9):c.7973G>A (p.Arg2658Lys)
|
rs2130863054
|
|
NM_005751.5(AKAP9):c.7980A>G (p.Lys2660=)
|
|
|
NM_005751.5(AKAP9):c.7989A>G (p.Lys2663=)
|
|
|
NM_005751.5(AKAP9):c.7989AAG[1] (p.Arg2664del)
|
rs746947919
|
|
NM_005751.5(AKAP9):c.7989_7993del (p.Arg2664fs)
|
|
|
NM_005751.5(AKAP9):c.7999C>G (p.Gln2667Glu)
|
|
|
NM_005751.5(AKAP9):c.8003A>G (p.Asp2668Gly)
|
rs1813267926
|
|
NM_005751.5(AKAP9):c.8019+12A>G
|
|
|
NM_005751.5(AKAP9):c.8020-12G>T
|
rs779767584
|
|
NM_005751.5(AKAP9):c.8020-13C>T
|
|
|
NM_005751.5(AKAP9):c.8020-13del
|
|
|
NM_005751.5(AKAP9):c.8022A>G (p.Thr2674=)
|
|
|
NM_005751.5(AKAP9):c.802C>G (p.Gln268Glu)
|
|
|
NM_005751.5(AKAP9):c.8117C>G (p.Ala2706Gly)
|
|
|
NM_005751.5(AKAP9):c.8120G>A (p.Ser2707Asn)
|
|
|
NM_005751.5(AKAP9):c.8134G>A (p.Ala2712Thr)
|
|
|
NM_005751.5(AKAP9):c.813C>T (p.Leu271=)
|
rs776451600
|
|
NM_005751.5(AKAP9):c.8140A>G (p.Lys2714Glu)
|
|
|
NM_005751.5(AKAP9):c.8148AGA[1] (p.Glu2718del)
|
rs752164981
|
|
NM_005751.5(AKAP9):c.8149G>C (p.Glu2717Gln)
|
|
|
NM_005751.5(AKAP9):c.8150A>G (p.Glu2717Gly)
|
|
|
NM_005751.5(AKAP9):c.8152G>A (p.Glu2718Lys)
|
|
|
NM_005751.5(AKAP9):c.8160+15A>G
|
|
|
NM_005751.5(AKAP9):c.8160+17A>G
|
|
|
NM_005751.5(AKAP9):c.8161-13C>T
|
|
|
NM_005751.5(AKAP9):c.8161G>C (p.Val2721Leu)
|
|
|
NM_005751.5(AKAP9):c.8200A>C (p.Ser2734Arg)
|
rs1554453992
|
|
NM_005751.5(AKAP9):c.8200A>T (p.Ser2734Cys)
|
rs1554453992
|
|
NM_005751.5(AKAP9):c.8206G>A (p.Val2736Ile)
|
|
|
NM_005751.5(AKAP9):c.8221G>A (p.Ala2741Thr)
|
|
|
NM_005751.5(AKAP9):c.8222C>T (p.Ala2741Val)
|
|
|
NM_005751.5(AKAP9):c.8241G>T (p.Leu2747Phe)
|
|
|
NM_005751.5(AKAP9):c.8242T>C (p.Ser2748Pro)
|
|
|
NM_005751.5(AKAP9):c.8244C>T (p.Ser2748=)
|
|
|
NM_005751.5(AKAP9):c.8277A>G (p.Gln2759=)
|
|
|
NM_005751.5(AKAP9):c.82G>A (p.Asp28Asn)
|
|
|
NM_005751.5(AKAP9):c.8328G>A (p.Lys2776=)
|
|
|
NM_005751.5(AKAP9):c.8335G>T (p.Ala2779Ser)
|
rs1463340231
|
|
NM_005751.5(AKAP9):c.8345C>T (p.Thr2782Ile)
|
rs543634397
|
|
NM_005751.5(AKAP9):c.8358G>A (p.Leu2786=)
|
rs761088888
|
|
NM_005751.5(AKAP9):c.8363T>C (p.Ile2788Thr)
|
rs1554454234
|
|
NM_005751.5(AKAP9):c.8367T>C (p.Ser2789=)
|
|
|
NM_005751.5(AKAP9):c.8380A>T (p.Thr2794Ser)
|
|
|
NM_005751.5(AKAP9):c.8388A>G (p.Gln2796=)
|
|
|
NM_005751.5(AKAP9):c.8394T>A (p.Leu2798=)
|
|
|
NM_005751.5(AKAP9):c.8397T>A (p.Val2799=)
|
|
|
NM_005751.5(AKAP9):c.8434T>G (p.Cys2812Gly)
|
|
|
NM_005751.5(AKAP9):c.8437T>C (p.Ser2813Pro)
|
|
|
NM_005751.5(AKAP9):c.8447A>T (p.Glu2816Val)
|
|
|
NM_005751.5(AKAP9):c.845A>C (p.His282Pro)
|
|
|
NM_005751.5(AKAP9):c.845A>G (p.His282Arg)
|
rs762460761
|
|
NM_005751.5(AKAP9):c.8481A>C (p.Lys2827Asn)
|
rs1813960301
|
|
NM_005751.5(AKAP9):c.8491A>G (p.Met2831Val)
|
|
|
NM_005751.5(AKAP9):c.8499A>T (p.Glu2833Asp)
|
rs747346120
|
|
NM_005751.5(AKAP9):c.8506G>A (p.Ala2836Thr)
|
|
|
NM_005751.5(AKAP9):c.8510C>G (p.Ala2837Gly)
|
|
|
NM_005751.5(AKAP9):c.8524A>T (p.Met2842Leu)
|
rs886062477
|
|
NM_005751.5(AKAP9):c.8531C>A (p.Ser2844Tyr)
|
|
|
NM_005751.5(AKAP9):c.8575G>T (p.Val2859Phe)
|
rs864622133
|
|
NM_005751.5(AKAP9):c.8581G>A (p.Val2861Ile)
|
|
|
NM_005751.5(AKAP9):c.8589A>G (p.Leu2863=)
|
|
|
NM_005751.5(AKAP9):c.8598G>A (p.Glu2866=)
|
rs144893755
|
|
NM_005751.5(AKAP9):c.8601A>T (p.Glu2867Asp)
|
rs1263755495
|
|
NM_005751.5(AKAP9):c.8613G>A (p.Leu2871=)
|
rs780211536
|
|
NM_005751.5(AKAP9):c.8626C>A (p.Gln2876Lys)
|
rs1196999529
|
|
NM_005751.5(AKAP9):c.863A>G (p.Gln288Arg)
|
|
|
NM_005751.5(AKAP9):c.8646+16A>G
|
|
|
NM_005751.5(AKAP9):c.8646+16_8646+20del
|
|
|
NM_005751.5(AKAP9):c.8646+20T>C
|
|
|
NM_005751.5(AKAP9):c.8646+8G>A
|
rs878854811
|
|
NM_005751.5(AKAP9):c.8647-8C>T
|
rs1331786459
|
|
NM_005751.5(AKAP9):c.8652C>G (p.Ser2884=)
|
|
|
NM_005751.5(AKAP9):c.8656A>C (p.Ile2886Leu)
|
|
|
NM_005751.5(AKAP9):c.8662G>A (p.Glu2888Lys)
|
|
|
NM_005751.5(AKAP9):c.8695G>A (p.Glu2899Lys)
|
|
|
NM_005751.5(AKAP9):c.869A>C (p.Lys290Thr)
|
|
|
NM_005751.5(AKAP9):c.8710+10A>G
|
|
|
NM_005751.5(AKAP9):c.8710+13A>C
|
rs372771420
|
|
NM_005751.5(AKAP9):c.8711-11C>A
|
|
|
NM_005751.5(AKAP9):c.8711-15T>C
|
|
|
NM_005751.5(AKAP9):c.8716G>A (p.Gly2906Arg)
|
|
|
NM_005751.5(AKAP9):c.873A>G (p.Lys291=)
|
rs2130646545
|
|
NM_005751.5(AKAP9):c.873AGA[1] (p.Glu292del)
|
rs759956336
|
|
NM_005751.5(AKAP9):c.8748A>T (p.Thr2916=)
|
|
|
NM_005751.5(AKAP9):c.8755C>T (p.Gln2919Ter)
|
rs1197135606
|
|
NM_005751.5(AKAP9):c.8762T>C (p.Phe2921Ser)
|
|
|
NM_005751.5(AKAP9):c.8767A>G (p.Ile2923Val)
|
|
|
NM_005751.5(AKAP9):c.8781C>G (p.Gly2927=)
|
rs2130874169
|
|
NM_005751.5(AKAP9):c.8782C>A (p.Arg2928=)
|
|
|
NM_005751.5(AKAP9):c.8782C>T (p.Arg2928Ter)
|
rs746403215
|
|
NM_005751.5(AKAP9):c.8794A>C (p.Ser2932Arg)
|
|
|
NM_005751.5(AKAP9):c.8800A>G (p.Ser2934Gly)
|
rs1814251685
|
|
NM_005751.5(AKAP9):c.8805A>T (p.Ala2935=)
|
|
|
NM_005751.5(AKAP9):c.8807C>G (p.Thr2936Arg)
|
|
|
NM_005751.5(AKAP9):c.880T>A (p.Phe294Ile)
|
|
|
NM_005751.5(AKAP9):c.8812del (p.Ser2938fs)
|
rs1563116259
|
|
NM_005751.5(AKAP9):c.8832+16T>C
|
|
|
NM_005751.5(AKAP9):c.8832+17A>G
|
rs2130874381
|
|
NM_005751.5(AKAP9):c.8833-17del
|
rs2130875372
|
|
NM_005751.5(AKAP9):c.8846C>T (p.Ala2949Val)
|
|
|
NM_005751.5(AKAP9):c.8852A>C (p.His2951Pro)
|
|
|
NM_005751.5(AKAP9):c.8872C>T (p.Leu2958Phe)
|
|
|
NM_005751.5(AKAP9):c.8894A>G (p.Tyr2965Cys)
|
rs201958512
|
|
NM_005751.5(AKAP9):c.8925G>C (p.Gln2975His)
|
|
|
NM_005751.5(AKAP9):c.8929T>G (p.Ser2977Ala)
|
|
|
NM_005751.5(AKAP9):c.8949G>C (p.Glu2983Asp)
|
|
|
NM_005751.5(AKAP9):c.8957C>T (p.Ala2986Val)
|
rs763275190
|
|
NM_005751.5(AKAP9):c.8958T>C (p.Ala2986=)
|
|
|
NM_005751.5(AKAP9):c.8961C>T (p.Tyr2987=)
|
|
|
NM_005751.5(AKAP9):c.8965A>G (p.Asn2989Asp)
|
|
|
NM_005751.5(AKAP9):c.8966A>G (p.Asn2989Ser)
|
rs2130875812
|
|
NM_005751.5(AKAP9):c.8981T>C (p.Leu2994Pro)
|
rs2130875865
|
|
NM_005751.5(AKAP9):c.9013A>G (p.Arg3005Gly)
|
rs1584490061
|
|
NM_005751.5(AKAP9):c.9017A>C (p.Glu3006Ala)
|
rs1814426128
|
|
NM_005751.5(AKAP9):c.9020C>G (p.Ala3007Gly)
|
|
|
NM_005751.5(AKAP9):c.9021C>T (p.Ala3007=)
|
|
|
NM_005751.5(AKAP9):c.9022G>C (p.Glu3008Gln)
|
rs190695638
|
|
NM_005751.5(AKAP9):c.9024+19G>T
|
|
|
NM_005751.5(AKAP9):c.9025-16A>G
|
|
|
NM_005751.5(AKAP9):c.905A>C (p.Gln302Pro)
|
|
|
NM_005751.5(AKAP9):c.9072T>C (p.Gly3024=)
|
|
|
NM_005751.5(AKAP9):c.9072T>G (p.Gly3024=)
|
|
|
NM_005751.5(AKAP9):c.9106G>A (p.Glu3036Lys)
|
rs746297415
|
|
NM_005751.5(AKAP9):c.9109G>T (p.Glu3037Ter)
|
rs1814554085
|
|
NM_005751.5(AKAP9):c.9124C>T (p.Leu3042=)
|
rs1447756030
|
|
NM_005751.5(AKAP9):c.9125T>C (p.Leu3042Pro)
|
|
|
NM_005751.5(AKAP9):c.9129A>G (p.Ala3043=)
|
rs1584492921
|
|
NM_005751.5(AKAP9):c.9149C>G (p.Thr3050Arg)
|
|
|
NM_005751.5(AKAP9):c.9180A>G (p.Leu3060=)
|
|
|
NM_005751.5(AKAP9):c.9183A>G (p.Leu3061=)
|
|
|
NM_005751.5(AKAP9):c.919G>C (p.Val307Leu)
|
rs989895553
|
|
NM_005751.5(AKAP9):c.920T>C (p.Val307Ala)
|
rs2130646748
|
|
NM_005751.5(AKAP9):c.9214-11C>G
|
rs2130883508
|
|
NM_005751.5(AKAP9):c.9214-7G>T
|
rs772360609
|
|
NM_005751.5(AKAP9):c.9235A>G (p.Met3079Val)
|
|
|
NM_005751.5(AKAP9):c.9251A>G (p.Lys3084Arg)
|
|
|
NM_005751.5(AKAP9):c.9258T>C (p.Asp3086=)
|
|
|
NM_005751.5(AKAP9):c.9261_9263del (p.Arg3088del)
|
|
|
NM_005751.5(AKAP9):c.9267T>A (p.Ser3089Arg)
|
|
|
NM_005751.5(AKAP9):c.9268T>A (p.Leu3090Met)
|
rs1488026046
|
|
NM_005751.5(AKAP9):c.9272del (p.Leu3091fs)
|
|
|
NM_005751.5(AKAP9):c.9274T>C (p.Ser3092Pro)
|
|
|
NM_005751.5(AKAP9):c.9276T>C (p.Ser3092=)
|
|
|
NM_005751.5(AKAP9):c.9291G>A (p.Leu3097=)
|
rs2130883743
|
|
NM_005751.5(AKAP9):c.9293A>G (p.His3098Arg)
|
|
|
NM_005751.5(AKAP9):c.930+9_930+12del
|
rs1798327943
|
|
NM_005751.5(AKAP9):c.9305A>G (p.Asn3102Ser)
|
|
|
NM_005751.5(AKAP9):c.931-8dup
|
|
|
NM_005751.5(AKAP9):c.9335A>G (p.Gln3112Arg)
|
rs999822458
|
|
NM_005751.5(AKAP9):c.9352A>T (p.Ser3118Cys)
|
|
|
NM_005751.5(AKAP9):c.9358+10A>G
|
rs180926926
|
|
NM_005751.5(AKAP9):c.9358+10A>T
|
rs180926926
|
|
NM_005751.5(AKAP9):c.9359-14C>A
|
|
|
NM_005751.5(AKAP9):c.9359-16dup
|
|
|
NM_005751.5(AKAP9):c.9359-19_9359-18dup
|
|
|
NM_005751.5(AKAP9):c.9359-4G>A
|
rs983991110
|
|
NM_005751.5(AKAP9):c.9359-5T>C
|
rs2130891619
|
|
NM_005751.5(AKAP9):c.9359-6G>A
|
|
|
NM_005751.5(AKAP9):c.935A>G (p.Gln312Arg)
|
|
|
NM_005751.5(AKAP9):c.9374_9378del (p.Asn3125fs)
|
rs2130891662
|
|
NM_005751.5(AKAP9):c.9375T>C (p.Asn3125=)
|
|
|
NM_005751.5(AKAP9):c.9376A>G (p.Ile3126Val)
|
rs2130891688
|
|
NM_005751.5(AKAP9):c.9377T>C (p.Ile3126Thr)
|
|
|
NM_005751.5(AKAP9):c.9379C>T (p.Gln3127Ter)
|
rs2130891706
|
|
NM_005751.5(AKAP9):c.938A>G (p.Asp313Gly)
|
|
|
NM_005751.5(AKAP9):c.9396_9397del (p.Gln3132fs)
|
|
|
NM_005751.5(AKAP9):c.9401T>C (p.Leu3134Pro)
|
|
|
NM_005751.5(AKAP9):c.9408_9409delinsAT (p.Met3136_Gln3137delinsIleTer)
|
|
|
NM_005751.5(AKAP9):c.9409C>A (p.Gln3137Lys)
|
|
|
NM_005751.5(AKAP9):c.9409C>G (p.Gln3137Glu)
|
|
|
NM_005751.5(AKAP9):c.9423C>A (p.Ser3141Arg)
|
|
|
NM_005751.5(AKAP9):c.9452A>C (p.Gln3151Pro)
|
|
|
NM_005751.5(AKAP9):c.9462G>A (p.Leu3154=)
|
|
|
NM_005751.5(AKAP9):c.9467C>G (p.Ser3156Cys)
|
|
|
NM_005751.5(AKAP9):c.9478G>A (p.Val3160Met)
|
|
|
NM_005751.5(AKAP9):c.9481G>T (p.Val3161Phe)
|
|
|
NM_005751.5(AKAP9):c.9528A>G (p.Glu3176=)
|
|
|
NM_005751.5(AKAP9):c.9555C>A (p.His3185Gln)
|
rs1815955125
|
|
NM_005751.5(AKAP9):c.9561A>G (p.Lys3187=)
|
rs963431431
|
|
NM_005751.5(AKAP9):c.9565T>C (p.Leu3189=)
|
|
|
NM_005751.5(AKAP9):c.956C>T (p.Ser319Leu)
|
rs1046115717
|
|
NM_005751.5(AKAP9):c.9570G>A (p.Glu3190=)
|
rs2130892145
|
|
NM_005751.5(AKAP9):c.9579-5C>G
|
|
|
NM_005751.5(AKAP9):c.9579-6A>T
|
|
|
NM_005751.5(AKAP9):c.9593A>G (p.Asp3198Gly)
|
|
|
NM_005751.5(AKAP9):c.9596A>G (p.Lys3199Arg)
|
|
|
NM_005751.5(AKAP9):c.9600A>G (p.Thr3200=)
|
rs2130896403
|
|
NM_005751.5(AKAP9):c.9601G>A (p.Asp3201Asn)
|
|
|
NM_005751.5(AKAP9):c.9607G>C (p.Val3203Leu)
|
rs1370864979
|
|
NM_005751.5(AKAP9):c.9616C>T (p.Leu3206Phe)
|
|
|
NM_005751.5(AKAP9):c.963A>G (p.Lys321=)
|
rs2130662268
|
|
NM_005751.5(AKAP9):c.9652A>G (p.Arg3218Gly)
|
|
|
NM_005751.5(AKAP9):c.9656A>C (p.Glu3219Ala)
|
rs1324778336
|
|
NM_005751.5(AKAP9):c.965A>C (p.Glu322Ala)
|
rs2130662287
|
|
NM_005751.5(AKAP9):c.9673G>A (p.Glu3225Lys)
|
|
|
NM_005751.5(AKAP9):c.9698G>T (p.Arg3233Leu)
|
|
|
NM_005751.5(AKAP9):c.970A>T (p.Ile324Leu)
|
|
|
NM_005751.5(AKAP9):c.9729+13T>C
|
|
|
NM_005751.5(AKAP9):c.9729+1G>T
|
rs1359935670
|
|
NM_005751.5(AKAP9):c.9729+4C>T
|
|
|
NM_005751.5(AKAP9):c.9729G>A (p.Glu3243=)
|
|
|
NM_005751.5(AKAP9):c.9730-8C>T
|
|
|
NM_005751.5(AKAP9):c.9735G>A (p.Leu3245=)
|
|
|
NM_005751.5(AKAP9):c.9750G>C (p.Glu3250Asp)
|
rs1304374666
|
|
NM_005751.5(AKAP9):c.9789G>A (p.Leu3263=)
|
rs2130900549
|
|
NM_005751.5(AKAP9):c.9807A>G (p.Leu3269=)
|
rs773519823
|
|
NM_005751.5(AKAP9):c.9830T>G (p.Ile3277Arg)
|
|
|
NM_005751.5(AKAP9):c.9831A>G (p.Ile3277Met)
|
|
|
NM_005751.5(AKAP9):c.9843A>C (p.Arg3281Ser)
|
|
|
NM_005751.5(AKAP9):c.9844A>T (p.Met3282Leu)
|
|
|
NM_005751.5(AKAP9):c.9858C>T (p.Ala3286=)
|
|
|
NM_005751.5(AKAP9):c.9860A>G (p.Gln3287Arg)
|
|
|
NM_005751.5(AKAP9):c.9862T>G (p.Leu3288Val)
|
|
|
NM_005751.5(AKAP9):c.9868G>A (p.Glu3290Lys)
|
|
|
NM_005751.5(AKAP9):c.9873A>T (p.Glu3291Asp)
|
|
|
NM_005751.5(AKAP9):c.9880C>A (p.Arg3294=)
|
|
|
NM_005751.5(AKAP9):c.9880C>G (p.Arg3294Gly)
|
rs145355395
|
|
NM_005751.5(AKAP9):c.9880C>T (p.Arg3294Ter)
|
|
|
NM_005751.5(AKAP9):c.9910T>A (p.Ser3304Thr)
|
rs2130900919
|
|
NM_005751.5(AKAP9):c.9915G>A (p.Glu3305=)
|
rs878854813
|
|
NM_005751.5(AKAP9):c.9926T>G (p.Ile3309Ser)
|
|
|
NM_005751.5(AKAP9):c.9928C>T (p.Arg3310Trp)
|
|
|
NM_005751.5(AKAP9):c.992T>C (p.Ile331Thr)
|
|
|
NM_005751.5(AKAP9):c.9947T>A (p.Leu3316Gln)
|
|
|
NM_005751.5(AKAP9):c.9952A>G (p.Arg3318Gly)
|
|
|
NM_005751.5(AKAP9):c.9958C>T (p.Arg3320Trp)
|
rs2130901090
|
|
NM_005751.5(AKAP9):c.9959G>A (p.Arg3320Gln)
|
|
|
NM_005751.5(AKAP9):c.9969C>A (p.His3323Gln)
|
rs566937987
|
|
NM_005751.5(AKAP9):c.9980A>G (p.Gln3327Arg)
|
|
|
NM_006888.5(CALM1):c.-218C>T
|
rs12885713
|
|
NM_006888.6(CALM1):c.106G>C (p.Val36Leu)
|
rs1887015236
|
|
NM_006888.6(CALM1):c.108C>T (p.Val36=)
|
rs1476676874
|
|
NM_006888.6(CALM1):c.118C>T (p.Leu40=)
|
rs2139767906
|
|
NM_006888.6(CALM1):c.150G>A (p.Gln50=)
|
|
|
NM_006888.6(CALM1):c.157A>G (p.Ile53Val)
|
rs1555365887
|
|
NM_006888.6(CALM1):c.178+16C>A
|
|
|
NM_006888.6(CALM1):c.178+20G>T
|
|
|
NM_006888.6(CALM1):c.179-14T>C
|
|
|
NM_006888.6(CALM1):c.179-17T>G
|
|
|
NM_006888.6(CALM1):c.179-4C>T
|
|
|
NM_006888.6(CALM1):c.179-9dup
|
|
|
NM_006888.6(CALM1):c.198C>T (p.Phe66=)
|
|
|
NM_006888.6(CALM1):c.213T>C (p.Thr71=)
|
|
|
NM_006888.6(CALM1):c.225A>G (p.Arg75=)
|
rs1887098758
|
|
NM_006888.6(CALM1):c.234A>G (p.Lys78=)
|
|
|
NM_006888.6(CALM1):c.237T>C (p.Asp79=)
|
|
|
NM_006888.6(CALM1):c.264G>A (p.Glu88=)
|
|
|
NM_006888.6(CALM1):c.267A>G (p.Ala89=)
|
rs2139771046
|
|
NM_006888.6(CALM1):c.27G>A (p.Gln9=)
|
|
|
NM_006888.6(CALM1):c.280G>C (p.Asp94His)
|
rs1887099943
|
|
NM_006888.6(CALM1):c.285+12T>A
|
|
|
NM_006888.6(CALM1):c.285+15A>G
|
|
|
NM_006888.6(CALM1):c.286-9T>C
|
|
|
NM_006888.6(CALM1):c.286G>T (p.Asp96Tyr)
|
|
|
NM_006888.6(CALM1):c.293A>G (p.Asn98Ser)
|
rs267607277
|
|
NM_006888.6(CALM1):c.3+10G>C
|
|
|
NM_006888.6(CALM1):c.3+14G>T
|
|
|
NM_006888.6(CALM1):c.301A>G (p.Ile101Val)
|
rs1595102592
|
|
NM_006888.6(CALM1):c.327C>T (p.Val109=)
|
|
|
NM_006888.6(CALM1):c.328A>C (p.Met110Leu)
|
rs2139771638
|
|
NM_006888.6(CALM1):c.336C>T (p.Asn112=)
|
|
|
NM_006888.6(CALM1):c.34+12A>C
|
rs752987778
|
|
NM_006888.6(CALM1):c.34+12A>G
|
|
|
NM_006888.6(CALM1):c.34+16C>T
|
rs758632437
|
|
NM_006888.6(CALM1):c.35-13del
|
rs1555365883
|
|
NM_006888.6(CALM1):c.35-14A>G
|
|
|
NM_006888.6(CALM1):c.35-19G>A
|
|
|
NM_006888.6(CALM1):c.358G>A (p.Glu120Lys)
|
|
|
NM_006888.6(CALM1):c.390T>C (p.Asp130=)
|
rs2139771676
|
|
NM_006888.6(CALM1):c.394G>A (p.Asp132Asn)
|
rs1595102640
|
|
NM_006888.6(CALM1):c.395A>G (p.Asp132Gly)
|
rs1887113791
|
|
NM_006888.6(CALM1):c.395A>T (p.Asp132Val)
|
rs1887113791
|
|
NM_006888.6(CALM1):c.398G>A (p.Gly133Glu)
|
rs1555366045
|
|
NM_006888.6(CALM1):c.398G>C (p.Gly133Ala)
|
|
|
NM_006888.6(CALM1):c.4-3T>C
|
|
|
NM_006888.6(CALM1):c.4-6A>T
|
|
|
NM_006888.6(CALM1):c.4-7C>T
|
|
|
NM_006888.6(CALM1):c.402C>G (p.Asp134Glu)
|
|
|
NM_006888.6(CALM1):c.411C>G (p.Val137=)
|
rs749827346
|
|
NM_006888.6(CALM1):c.421+10A>G
|
|
|
NM_006888.6(CALM1):c.421+6dup
|
rs2139771726
|
|
NM_006888.6(CALM1):c.421+7_421+10del
|
rs771894805
|
|
NM_006888.6(CALM1):c.422-15T>C
|
|
|
NM_006888.6(CALM1):c.422-19A>G
|
|
|
NM_006888.6(CALM1):c.424T>C (p.Phe142Leu)
|
rs1085307479
|
|
NM_006888.6(CALM1):c.426C>A (p.Phe142Leu)
|
rs199744595
|
|
NM_006888.6(CALM1):c.70G>A (p.Gly24Ser)
|
|
|
NM_006888.6(CALM1):c.78C>T (p.Gly26=)
|
rs1555365884
|
|
NM_006888.6(CALM1):c.84C>T (p.Ile28=)
|
|
|
NM_006888.6(CALM1):c.87A>C (p.Thr29=)
|
rs2139767870
|
|
NM_006888.6(CALM1):c.90A>C (p.Thr30=)
|
rs1595100965
|
|
NM_015335.4(MED13L):c.3519_3521delinsT (p.Tyr1174fs)
|
rs1565997261
|
|
NM_015335.5(MED13L):c.1003A>G (p.Ile335Val)
|
|
|
NM_015335.5(MED13L):c.1010-12C>T
|
|
|
NM_015335.5(MED13L):c.1010-4dup
|
rs771044608
|
|
NM_015335.5(MED13L):c.1010-6T>G
|
|
|
NM_015335.5(MED13L):c.1036G>C (p.Ala346Pro)
|
|
|
NM_015335.5(MED13L):c.1064G>A (p.Gly355Glu)
|
|
|
NM_015335.5(MED13L):c.106A>G (p.Asn36Asp)
|
|
|
NM_015335.5(MED13L):c.1073C>T (p.Thr358Met)
|
|
|
NM_015335.5(MED13L):c.1076T>C (p.Met359Thr)
|
|
|
NM_015335.5(MED13L):c.107A>G (p.Asn36Ser)
|
|
|
NM_015335.5(MED13L):c.1086A>G (p.Pro362=)
|
rs2137415289
|
|
NM_015335.5(MED13L):c.1128G>A (p.Met376Ile)
|
|
|
NM_015335.5(MED13L):c.1135C>T (p.Arg379Ter)
|
|
|
NM_015335.5(MED13L):c.1136G>A (p.Arg379Gln)
|
|
|
NM_015335.5(MED13L):c.1164A>G (p.Arg388=)
|
rs1566011405
|
|
NM_015335.5(MED13L):c.1175+12C>T
|
|
|
NM_015335.5(MED13L):c.1176-1G>A
|
rs1566010195
|
|
NM_015335.5(MED13L):c.1176-3T>C
|
|
|
NM_015335.5(MED13L):c.1176-9C>A
|
|
|
NM_015335.5(MED13L):c.1192A>C (p.Thr398Pro)
|
|
|
NM_015335.5(MED13L):c.119A>G (p.His40Arg)
|
|
|
NM_015335.5(MED13L):c.124G>T (p.Asp42Tyr)
|
rs1247142719
|
|
NM_015335.5(MED13L):c.1260A>C (p.Arg420Ser)
|
rs768900677
|
|
NM_015335.5(MED13L):c.1271C>A (p.Ser424Tyr)
|
|
|
NM_015335.5(MED13L):c.1280+11A>G
|
|
|
NM_015335.5(MED13L):c.1280G>A (p.Arg427Lys)
|
|
|
NM_015335.5(MED13L):c.1281-17G>A
|
|
|
NM_015335.5(MED13L):c.1297C>T (p.Arg433Cys)
|
|
|
NM_015335.5(MED13L):c.1298G>A (p.Arg433His)
|
|
|
NM_015335.5(MED13L):c.1300_1302del (p.Cys434del)
|
|
|
NM_015335.5(MED13L):c.1319G>A (p.Arg440Gln)
|
|
|
NM_015335.5(MED13L):c.1328C>T (p.Thr443Ile)
|
|
|
NM_015335.5(MED13L):c.1344G>A (p.Gly448=)
|
|
|
NM_015335.5(MED13L):c.1349G>T (p.Ser450Ile)
|
|
|
NM_015335.5(MED13L):c.134C>G (p.Pro45Arg)
|
|
|
NM_015335.5(MED13L):c.1355G>C (p.Gly452Ala)
|
|
|
NM_015335.5(MED13L):c.1362A>G (p.Ser454=)
|
|
|
NM_015335.5(MED13L):c.1390TCT[1] (p.Ser465del)
|
|
|
NM_015335.5(MED13L):c.1394C>T (p.Ser465Phe)
|
|
|
NM_015335.5(MED13L):c.1396A>C (p.Lys466Gln)
|
|
|
NM_015335.5(MED13L):c.1405dup (p.Thr469fs)
|
rs2137386388
|
|
NM_015335.5(MED13L):c.1406C>T (p.Thr469Ile)
|
|
|
NM_015335.5(MED13L):c.1423A>G (p.Lys475Glu)
|
rs1879225158
|
|
NM_015335.5(MED13L):c.147C>A (p.Ala49=)
|
|
|
NM_015335.5(MED13L):c.1482C>T (p.Ala494=)
|
|
|
NM_015335.5(MED13L):c.1483G>A (p.Glu495Lys)
|
|
|
NM_015335.5(MED13L):c.1486G>T (p.Glu496Ter)
|
|
|
NM_015335.5(MED13L):c.1508C>T (p.Thr503Ile)
|
|
|
NM_015335.5(MED13L):c.1543T>G (p.Ser515Ala)
|
rs777986630
|
|
NM_015335.5(MED13L):c.1551A>C (p.Leu517Phe)
|
|
|
NM_015335.5(MED13L):c.1551A>T (p.Leu517Phe)
|
|
|
NM_015335.5(MED13L):c.1563C>T (p.Ser521=)
|
|
|
NM_015335.5(MED13L):c.1589C>T (p.Ala530Val)
|
|
|
NM_015335.5(MED13L):c.1617A>C (p.Gln539His)
|
|
|
NM_015335.5(MED13L):c.1617A>G (p.Gln539=)
|
|
|
NM_015335.5(MED13L):c.1629T>A (p.Asn543Lys)
|
|
|
NM_015335.5(MED13L):c.1637A>G (p.Asp546Gly)
|
|
|
NM_015335.5(MED13L):c.1649C>G (p.Ser550Cys)
|
|
|
NM_015335.5(MED13L):c.1650C>G (p.Ser550=)
|
|
|
NM_015335.5(MED13L):c.1658C>A (p.Ser553Tyr)
|
|
|
NM_015335.5(MED13L):c.166A>G (p.Ile56Val)
|
|
|
NM_015335.5(MED13L):c.1689A>T (p.Pro563=)
|
|
|
NM_015335.5(MED13L):c.1722A>G (p.Pro574=)
|
|
|
NM_015335.5(MED13L):c.1724C>T (p.Ser575Leu)
|
rs377144746
|
|
NM_015335.5(MED13L):c.1728C>T (p.Val576=)
|
|
|
NM_015335.5(MED13L):c.1758A>T (p.Gly586=)
|
|
|
NM_015335.5(MED13L):c.1773G>A (p.Gln591=)
|
rs3741768
|
|
NM_015335.5(MED13L):c.1780A>G (p.Thr594Ala)
|
|
|
NM_015335.5(MED13L):c.1784T>C (p.Leu595Pro)
|
rs750811062
|
|
NM_015335.5(MED13L):c.1785G>C (p.Leu595=)
|
rs1592942104
|
|
NM_015335.5(MED13L):c.1797T>C (p.Thr599=)
|
|
|
NM_015335.5(MED13L):c.1803C>T (p.Leu601=)
|
|
|
NM_015335.5(MED13L):c.1804G>A (p.Val602Ile)
|
|
|
NM_015335.5(MED13L):c.1814G>A (p.Arg605Lys)
|
|
|
NM_015335.5(MED13L):c.1828G>T (p.Ala610Ser)
|
|
|
NM_015335.5(MED13L):c.1839C>T (p.Ser613=)
|
|
|
NM_015335.5(MED13L):c.1840G>A (p.Glu614Lys)
|
|
|
NM_015335.5(MED13L):c.1853A>G (p.Tyr618Cys)
|
|
|
NM_015335.5(MED13L):c.1861A>G (p.Ile621Val)
|
|
|
NM_015335.5(MED13L):c.1871C>T (p.Ser624Leu)
|
|
|
NM_015335.5(MED13L):c.1884A>T (p.Ser628=)
|
|
|
NM_015335.5(MED13L):c.1897T>G (p.Trp633Gly)
|
|
|
NM_015335.5(MED13L):c.1914C>T (p.Leu638=)
|
rs1279215396
|
|
NM_015335.5(MED13L):c.1928A>G (p.Asp643Gly)
|
rs1344076513
|
|
NM_015335.5(MED13L):c.192G>C (p.Leu64=)
|
|
|
NM_015335.5(MED13L):c.1969G>A (p.Asp657Asn)
|
rs760771799
|
|
NM_015335.5(MED13L):c.1973C>T (p.Ala658Val)
|
|
|
NM_015335.5(MED13L):c.1975A>G (p.Lys659Glu)
|
|
|
NM_015335.5(MED13L):c.1999A>G (p.Thr667Ala)
|
|
|
NM_015335.5(MED13L):c.2012+10CT[2]
|
rs564143152
|
|
NM_015335.5(MED13L):c.2012+12C>G
|
|
|
NM_015335.5(MED13L):c.2013-10_2013-9insTG
|
rs1555247737
|
|
NM_015335.5(MED13L):c.2013-10_2013-9insTTG
|
|
|
NM_015335.5(MED13L):c.2013-9dup
|
|
|
NM_015335.5(MED13L):c.2014C>T (p.Leu672Phe)
|
rs753868437
|
|
NM_015335.5(MED13L):c.2022A>C (p.Ala674=)
|
|
|
NM_015335.5(MED13L):c.2036G>A (p.Arg679Gln)
|
rs1366343903
|
|
NM_015335.5(MED13L):c.2056A>G (p.Lys686Glu)
|
|
|
NM_015335.5(MED13L):c.2071C>T (p.Gln691Ter)
|
rs2137378964
|
|
NM_015335.5(MED13L):c.2081A>G (p.His694Arg)
|
|
|
NM_015335.5(MED13L):c.2097G>A (p.Leu699=)
|
|
|
NM_015335.5(MED13L):c.2109A>G (p.Gln703=)
|
|
|
NM_015335.5(MED13L):c.2110C>T (p.Gln704Ter)
|
|
|
NM_015335.5(MED13L):c.211G>A (p.Val71Ile)
|
|
|
NM_015335.5(MED13L):c.2175C>T (p.Tyr725=)
|
|
|
NM_015335.5(MED13L):c.2183C>T (p.Thr728Ile)
|
|
|
NM_015335.5(MED13L):c.2197T>A (p.Cys733Ser)
|
|
|
NM_015335.5(MED13L):c.2220T>G (p.Asp740Glu)
|
|
|
NM_015335.5(MED13L):c.2222C>G (p.Ser741Cys)
|
|
|
NM_015335.5(MED13L):c.2226G>C (p.Leu742=)
|
|
|
NM_015335.5(MED13L):c.2238+13A>T
|
|
|
NM_015335.5(MED13L):c.2238+13dup
|
|
|
NM_015335.5(MED13L):c.2239-3_2239-2del
|
|
|
NM_015335.5(MED13L):c.2240C>T (p.Ser747Leu)
|
rs368050346
|
|
NM_015335.5(MED13L):c.2260A>G (p.Lys754Glu)
|
|
|
NM_015335.5(MED13L):c.2268C>G (p.Val756=)
|
|
|
NM_015335.5(MED13L):c.2282A>G (p.His761Arg)
|
|
|
NM_015335.5(MED13L):c.2289G>T (p.Thr763=)
|
|
|
NM_015335.5(MED13L):c.230A>G (p.Lys77Arg)
|
|
|
NM_015335.5(MED13L):c.2311G>A (p.Ala771Thr)
|
|
|
NM_015335.5(MED13L):c.2316_2317del (p.Met772fs)
|
rs1566005476
|
|
NM_015335.5(MED13L):c.2320A>G (p.Ile774Val)
|
|
|
NM_015335.5(MED13L):c.2344+13A>G
|
|
|
NM_015335.5(MED13L):c.2345-8T>G
|
|
|
NM_015335.5(MED13L):c.2352G>A (p.Arg784=)
|
rs1226259653
|
|
NM_015335.5(MED13L):c.2352G>T (p.Arg784=)
|
rs1226259653
|
|
NM_015335.5(MED13L):c.2354A>T (p.Gln785Leu)
|
rs1555247342
|
|
NM_015335.5(MED13L):c.2375C>G (p.Ala792Gly)
|
|
|
NM_015335.5(MED13L):c.2465T>G (p.Leu822Arg)
|
|
|
NM_015335.5(MED13L):c.2469+11C>T
|
|
|
NM_015335.5(MED13L):c.2469+18A>G
|
|
|
NM_015335.5(MED13L):c.2470-12G>A
|
|
|
NM_015335.5(MED13L):c.2470-15A>G
|
|
|
NM_015335.5(MED13L):c.2470-20A>G
|
|
|
NM_015335.5(MED13L):c.2483C>T (p.Ala828Val)
|
|
|
NM_015335.5(MED13L):c.2485C>T (p.Leu829=)
|
|
|
NM_015335.5(MED13L):c.2489G>A (p.Arg830His)
|
|
|
NM_015335.5(MED13L):c.2509G>T (p.Val837Phe)
|
|
|
NM_015335.5(MED13L):c.2523C>T (p.Asp841=)
|
|
|
NM_015335.5(MED13L):c.2530C>T (p.Leu844Phe)
|
|
|
NM_015335.5(MED13L):c.2558C>T (p.Pro853Leu)
|
|
|
NM_015335.5(MED13L):c.2569+16T>A
|
|
|
NM_015335.5(MED13L):c.2570-14T>C
|
|
|
NM_015335.5(MED13L):c.2570-15A>T
|
|
|
NM_015335.5(MED13L):c.2570-8A>T
|
|
|
NM_015335.5(MED13L):c.2579A>G (p.Asp860Gly)
|
rs1555246154
|
|
NM_015335.5(MED13L):c.2585A>C (p.Gln862Pro)
|
|
|
NM_015335.5(MED13L):c.2604A>G (p.Pro868=)
|
rs772409015
|
|
NM_015335.5(MED13L):c.2621A>C (p.His874Pro)
|
|
|
NM_015335.5(MED13L):c.263G>A (p.Trp88Ter)
|
rs1870202051
|
|
NM_015335.5(MED13L):c.2648A>G (p.Tyr883Cys)
|
|
|
NM_015335.5(MED13L):c.2662A>G (p.Ser888Gly)
|
|
|
NM_015335.5(MED13L):c.2705T>C (p.Met902Thr)
|
|
|
NM_015335.5(MED13L):c.2713A>C (p.Met905Leu)
|
|
|
NM_015335.5(MED13L):c.2744T>C (p.Met915Thr)
|
|
|
NM_015335.5(MED13L):c.277A>G (p.Asn93Asp)
|
|
|
NM_015335.5(MED13L):c.278A>G (p.Asn93Ser)
|
|
|
NM_015335.5(MED13L):c.2790+11A>G
|
|
|
NM_015335.5(MED13L):c.2790+12T>C
|
|
|
NM_015335.5(MED13L):c.2790+18A>G
|
|
|
NM_015335.5(MED13L):c.2809A>C (p.Lys937Gln)
|
|
|
NM_015335.5(MED13L):c.2818T>C (p.Ser940Pro)
|
|
|
NM_015335.5(MED13L):c.2824C>G (p.Gln942Glu)
|
|
|
NM_015335.5(MED13L):c.2826A>G (p.Gln942=)
|
|
|
NM_015335.5(MED13L):c.2832T>A (p.Phe944Leu)
|
rs764385703
|
|
NM_015335.5(MED13L):c.2834T>C (p.Val945Ala)
|
|
|
NM_015335.5(MED13L):c.2845A>G (p.Met949Val)
|
|
|
NM_015335.5(MED13L):c.2854C>T (p.Pro952Ser)
|
|
|
NM_015335.5(MED13L):c.2868G>A (p.Leu956=)
|
|
|
NM_015335.5(MED13L):c.2886A>C (p.Leu962=)
|
|
|
NM_015335.5(MED13L):c.2911C>T (p.Leu971=)
|
rs2137328447
|
|
NM_015335.5(MED13L):c.2918G>A (p.Arg973Gln)
|
|
|
NM_015335.5(MED13L):c.2925A>G (p.Ser975=)
|
|
|
NM_015335.5(MED13L):c.2925A>T (p.Ser975=)
|
|
|
NM_015335.5(MED13L):c.2932A>G (p.Ile978Val)
|
|
|
NM_015335.5(MED13L):c.2959A>G (p.Met987Val)
|
|
|
NM_015335.5(MED13L):c.2965C>G (p.Pro989Ala)
|
|
|
NM_015335.5(MED13L):c.2996+7A>G
|
|
|
NM_015335.5(MED13L):c.2996A>G (p.Asn999Ser)
|
|
|
NM_015335.5(MED13L):c.2997-11T>G
|
|
|
NM_015335.5(MED13L):c.3015G>C (p.Gly1005=)
|
|
|
NM_015335.5(MED13L):c.3018C>T (p.Ser1006=)
|
|
|
NM_015335.5(MED13L):c.3064G>A (p.Val1022Met)
|
|
|
NM_015335.5(MED13L):c.3078C>T (p.Ser1026=)
|
|
|
NM_015335.5(MED13L):c.3095A>G (p.Asn1032Ser)
|
|
|
NM_015335.5(MED13L):c.311-10_311-4del
|
|
|
NM_015335.5(MED13L):c.311-20T>C
|
|
|
NM_015335.5(MED13L):c.311-21_311-16del
|
|
|
NM_015335.5(MED13L):c.311-4dup
|
rs150398214
|
|
NM_015335.5(MED13L):c.3114A>G (p.Leu1038=)
|
|
|
NM_015335.5(MED13L):c.3123A>C (p.Pro1041=)
|
|
|
NM_015335.5(MED13L):c.3165G>A (p.Arg1055=)
|
|
|
NM_015335.5(MED13L):c.3207A>G (p.Gln1069=)
|
|
|
NM_015335.5(MED13L):c.3213T>C (p.Ser1071=)
|
|
|
NM_015335.5(MED13L):c.3231C>T (p.Thr1077=)
|
|
|
NM_015335.5(MED13L):c.3255C>T (p.Thr1085=)
|
|
|
NM_015335.5(MED13L):c.3258C>G (p.Pro1086=)
|
|
|
NM_015335.5(MED13L):c.3265A>G (p.Thr1089Ala)
|
|
|
NM_015335.5(MED13L):c.327C>T (p.Leu109=)
|
|
|
NM_015335.5(MED13L):c.3285G>A (p.Val1095=)
|
|
|
NM_015335.5(MED13L):c.3290C>T (p.Pro1097Leu)
|
|
|
NM_015335.5(MED13L):c.3292G>A (p.Ala1098Thr)
|
|
|
NM_015335.5(MED13L):c.3295A>G (p.Thr1099Ala)
|
|
|
NM_015335.5(MED13L):c.3327C>T (p.Leu1109=)
|
|
|
NM_015335.5(MED13L):c.3336C>T (p.Thr1112=)
|
|
|
NM_015335.5(MED13L):c.3343C>A (p.Leu1115Ile)
|
|
|
NM_015335.5(MED13L):c.3347C>A (p.Ser1116Tyr)
|
rs1878063256
|
|
NM_015335.5(MED13L):c.3369T>C (p.Phe1123=)
|
|
|
NM_015335.5(MED13L):c.3381del (p.Phe1128fs)
|
|
|
NM_015335.5(MED13L):c.3396C>T (p.Cys1132=)
|
|
|
NM_015335.5(MED13L):c.3428C>T (p.Ala1143Val)
|
rs763939921
|
|
NM_015335.5(MED13L):c.3450C>A (p.Pro1150=)
|
|
|
NM_015335.5(MED13L):c.3476G>A (p.Arg1159His)
|
|
|
NM_015335.5(MED13L):c.3479G>A (p.Cys1160Tyr)
|
rs1565997289
|
|
NM_015335.5(MED13L):c.3495T>C (p.Ser1165=)
|
|
|
NM_015335.5(MED13L):c.3498G>A (p.Ala1166=)
|
rs200960898
|
|
NM_015335.5(MED13L):c.3522C>T (p.Tyr1174=)
|
|
|
NM_015335.5(MED13L):c.3578T>C (p.Ile1193Thr)
|
|
|
NM_015335.5(MED13L):c.3586G>A (p.Ala1196Thr)
|
|
|
NM_015335.5(MED13L):c.3590C>T (p.Ala1197Val)
|
|
|
NM_015335.5(MED13L):c.3595A>G (p.Arg1199Gly)
|
|
|
NM_015335.5(MED13L):c.3598C>T (p.Arg1200Cys)
|
|
|
NM_015335.5(MED13L):c.359C>T (p.Thr120Met)
|
|
|
NM_015335.5(MED13L):c.3645C>T (p.Thr1215=)
|
|
|
NM_015335.5(MED13L):c.3647A>G (p.Lys1216Arg)
|
|
|
NM_015335.5(MED13L):c.3658G>A (p.Glu1220Lys)
|
|
|
NM_015335.5(MED13L):c.3659A>G (p.Glu1220Gly)
|
|
|
NM_015335.5(MED13L):c.3667A>G (p.Ile1223Val)
|
rs1878044534
|
|
NM_015335.5(MED13L):c.3677TCC[3] (p.Leu1229del)
|
|
|
NM_015335.5(MED13L):c.3682C>T (p.Leu1228Phe)
|
|
|
NM_015335.5(MED13L):c.3694C>A (p.Gln1232Lys)
|
|
|
NM_015335.5(MED13L):c.36G>A (p.Ala12=)
|
|
|
NM_015335.5(MED13L):c.3700A>G (p.Thr1234Ala)
|
|
|
NM_015335.5(MED13L):c.3706C>A (p.Pro1236Thr)
|
|
|
NM_015335.5(MED13L):c.3726C>T (p.Phe1242=)
|
rs1422363356
|
|
NM_015335.5(MED13L):c.3734A>G (p.Tyr1245Cys)
|
rs1878039306
|
|
NM_015335.5(MED13L):c.3741C>T (p.Ser1247=)
|
|
|
NM_015335.5(MED13L):c.3743C>G (p.Ser1248Cys)
|
|
|
NM_015335.5(MED13L):c.3751C>T (p.Arg1251Cys)
|
|
|
NM_015335.5(MED13L):c.3779del (p.Ser1260fs)
|
|
|
NM_015335.5(MED13L):c.3783T>C (p.Tyr1261=)
|
|
|
NM_015335.5(MED13L):c.3787C>T (p.Arg1263Trp)
|
|
|
NM_015335.5(MED13L):c.3789G>C (p.Arg1263=)
|
|
|
NM_015335.5(MED13L):c.3801T>A (p.Asp1267Glu)
|
|
|
NM_015335.5(MED13L):c.3848G>A (p.Arg1283Gln)
|
|
|
NM_015335.5(MED13L):c.3882G>A (p.Val1294=)
|
|
|
NM_015335.5(MED13L):c.3885C>T (p.Asp1295=)
|
|
|
NM_015335.5(MED13L):c.3927C>T (p.His1309=)
|
|
|
NM_015335.5(MED13L):c.3929G>A (p.Ser1310Asn)
|
|
|
NM_015335.5(MED13L):c.3930C>T (p.Ser1310=)
|
|
|
NM_015335.5(MED13L):c.3935-1G>A
|
rs1565995146
|
|
NM_015335.5(MED13L):c.3935-9C>A
|
|
|
NM_015335.5(MED13L):c.395+8A>G
|
|
|
NM_015335.5(MED13L):c.395+9A>G
|
|
|
NM_015335.5(MED13L):c.3954C>T (p.Leu1318=)
|
|
|
NM_015335.5(MED13L):c.396-14T>C
|
|
|
NM_015335.5(MED13L):c.3960C>T (p.Ser1320=)
|
|
|
NM_015335.5(MED13L):c.4002C>G (p.Leu1334=)
|
rs772069193
|
|
NM_015335.5(MED13L):c.4004A>G (p.Gln1335Arg)
|
|
|
NM_015335.5(MED13L):c.401T>C (p.Leu134Pro)
|
rs1565875400
|
|
NM_015335.5(MED13L):c.4025G>A (p.Arg1342His)
|
|
|
NM_015335.5(MED13L):c.4065A>G (p.Gly1355=)
|
|
|
NM_015335.5(MED13L):c.4077G>A (p.Trp1359Ter)
|
rs1565995034
|
|
NM_015335.5(MED13L):c.4106G>C (p.Gly1369Ala)
|
rs1877746863
|
|
NM_015335.5(MED13L):c.4113C>T (p.Tyr1371=)
|
|
|
NM_015335.5(MED13L):c.4114+17G>A
|
|
|
NM_015335.5(MED13L):c.4114+8C>A
|
|
|
NM_015335.5(MED13L):c.4114+8C>G
|
|
|
NM_015335.5(MED13L):c.4115-18A>G
|
|
|
NM_015335.5(MED13L):c.4119G>A (p.Ser1373=)
|
|
|
NM_015335.5(MED13L):c.4137G>A (p.Pro1379=)
|
|
|
NM_015335.5(MED13L):c.4144A>G (p.Ile1382Val)
|
|
|
NM_015335.5(MED13L):c.4158G>C (p.Leu1386=)
|
rs2137287371
|
|
NM_015335.5(MED13L):c.4160T>C (p.Val1387Ala)
|
|
|
NM_015335.5(MED13L):c.4161A>G (p.Val1387=)
|
|
|
NM_015335.5(MED13L):c.4166A>G (p.Tyr1389Cys)
|
|
|
NM_015335.5(MED13L):c.4191G>A (p.Ser1397=)
|
|
|
NM_015335.5(MED13L):c.4206G>A (p.Pro1402=)
|
|
|
NM_015335.5(MED13L):c.4217G>A (p.Arg1406Lys)
|
|
|
NM_015335.5(MED13L):c.4247G>A (p.Arg1416His)
|
|
|
NM_015335.5(MED13L):c.4277A>G (p.Glu1426Gly)
|
|
|
NM_015335.5(MED13L):c.4289_4290delinsAA (p.Leu1430Ter)
|
rs1877685759
|
|
NM_015335.5(MED13L):c.4319A>G (p.Asp1440Gly)
|
|
|
NM_015335.5(MED13L):c.4328C>A (p.Ala1443Asp)
|
|
|
NM_015335.5(MED13L):c.4330G>A (p.Val1444Ile)
|
|
|
NM_015335.5(MED13L):c.4339-20G>T
|
|
|
NM_015335.5(MED13L):c.4339-9T>C
|
|
|
NM_015335.5(MED13L):c.4342T>G (p.Cys1448Gly)
|
|
|
NM_015335.5(MED13L):c.4347G>A (p.Arg1449=)
|
|
|
NM_015335.5(MED13L):c.437T>A (p.Phe146Tyr)
|
|
|
NM_015335.5(MED13L):c.4382G>A (p.Arg1461His)
|
|
|
NM_015335.5(MED13L):c.4405A>G (p.Lys1469Glu)
|
|
|
NM_015335.5(MED13L):c.4458G>A (p.Gln1486=)
|
|
|
NM_015335.5(MED13L):c.4461T>G (p.Pro1487=)
|
|
|
NM_015335.5(MED13L):c.4484A>G (p.Asn1495Ser)
|
|
|
NM_015335.5(MED13L):c.4509G>T (p.Ala1503=)
|
|
|
NM_015335.5(MED13L):c.4519C>T (p.Arg1507Cys)
|
|
|
NM_015335.5(MED13L):c.4520G>A (p.Arg1507His)
|
|
|
NM_015335.5(MED13L):c.4525C>T (p.His1509Tyr)
|
|
|
NM_015335.5(MED13L):c.4531+17T>C
|
|
|
NM_015335.5(MED13L):c.4532-20C>G
|
|
|
NM_015335.5(MED13L):c.4569A>G (p.Leu1523=)
|
|
|
NM_015335.5(MED13L):c.4576C>G (p.Pro1526Ala)
|
rs752521430
|
|
NM_015335.5(MED13L):c.4599A>G (p.Pro1533=)
|
|
|
NM_015335.5(MED13L):c.4616A>G (p.Gln1539Arg)
|
|
|
NM_015335.5(MED13L):c.4622C>T (p.Thr1541Met)
|
|
|
NM_015335.5(MED13L):c.4623G>A (p.Thr1541=)
|
|
|
NM_015335.5(MED13L):c.4625C>A (p.Pro1542Gln)
|
|
|
NM_015335.5(MED13L):c.4631A>G (p.Asn1544Ser)
|
|
|
NM_015335.5(MED13L):c.4639C>A (p.Pro1547Thr)
|
|
|
NM_015335.5(MED13L):c.4639C>T (p.Pro1547Ser)
|
|
|
NM_015335.5(MED13L):c.4641C>T (p.Pro1547=)
|
|
|
NM_015335.5(MED13L):c.4660G>A (p.Ala1554Thr)
|
|
|
NM_015335.5(MED13L):c.4698G>A (p.Ser1566=)
|
|
|
NM_015335.5(MED13L):c.4699A>G (p.Asn1567Asp)
|
|
|
NM_015335.5(MED13L):c.4715del (p.Asn1572fs)
|
|
|
NM_015335.5(MED13L):c.4720G>A (p.Ala1574Thr)
|
|
|
NM_015335.5(MED13L):c.472A>G (p.Asn158Asp)
|
|
|
NM_015335.5(MED13L):c.4733C>G (p.Ser1578Cys)
|
|
|
NM_015335.5(MED13L):c.4745C>T (p.Ser1582Phe)
|
|
|
NM_015335.5(MED13L):c.475A>T (p.Lys159Ter)
|
|
|
NM_015335.5(MED13L):c.4766C>T (p.Ser1589Leu)
|
|
|
NM_015335.5(MED13L):c.4774T>C (p.Ser1592Pro)
|
|
|
NM_015335.5(MED13L):c.4786A>G (p.Ile1596Val)
|
|
|
NM_015335.5(MED13L):c.479+16G>A
|
|
|
NM_015335.5(MED13L):c.479+8T>C
|
rs2137816605
|
|
NM_015335.5(MED13L):c.480-15T>C
|
|
|
NM_015335.5(MED13L):c.480-9C>G
|
|
|
NM_015335.5(MED13L):c.480-9C>T
|
|
|
NM_015335.5(MED13L):c.481G>A (p.Glu161Lys)
|
|
|
NM_015335.5(MED13L):c.4831G>A (p.Val1611Ile)
|
|
|
NM_015335.5(MED13L):c.4837G>A (p.Gly1613Arg)
|
|
|
NM_015335.5(MED13L):c.4854T>G (p.Thr1618=)
|
|
|
NM_015335.5(MED13L):c.4875A>G (p.Arg1625=)
|
|
|
NM_015335.5(MED13L):c.4878G>A (p.Thr1626=)
|
|
|
NM_015335.5(MED13L):c.4886A>G (p.Asn1629Ser)
|
|
|
NM_015335.5(MED13L):c.4932G>C (p.Gln1644His)
|
|
|
NM_015335.5(MED13L):c.4949A>G (p.Gln1650Arg)
|
|
|
NM_015335.5(MED13L):c.494G>A (p.Cys165Tyr)
|
|
|
NM_015335.5(MED13L):c.4953G>A (p.Glu1651=)
|
|
|
NM_015335.5(MED13L):c.4953G>T (p.Glu1651Asp)
|
|
|
NM_015335.5(MED13L):c.4955+13_4955+14insAAT
|
|
|
NM_015335.5(MED13L):c.4955+1G>A
|
|
|
NM_015335.5(MED13L):c.4956-11TC[3]
|
|
|
NM_015335.5(MED13L):c.4956-3C>T
|
|
|
NM_015335.5(MED13L):c.4957G>A (p.Val1653Ile)
|
|
|
NM_015335.5(MED13L):c.4962A>G (p.Thr1654=)
|
|
|
NM_015335.5(MED13L):c.5024C>T (p.Pro1675Leu)
|
|
|
NM_015335.5(MED13L):c.5051C>T (p.Pro1684Leu)
|
|
|
NM_015335.5(MED13L):c.5052G>C (p.Pro1684=)
|
|
|
NM_015335.5(MED13L):c.5057C>A (p.Thr1686Lys)
|
|
|
NM_015335.5(MED13L):c.5110A>G (p.Met1704Val)
|
|
|
NM_015335.5(MED13L):c.511C>T (p.Leu171=)
|
|
|
NM_015335.5(MED13L):c.5134G>A (p.Asp1712Asn)
|
rs1565992052
|
|
NM_015335.5(MED13L):c.5160T>C (p.Asn1720=)
|
rs2137270716
|
|
NM_015335.5(MED13L):c.5175+10T>G
|
|
|
NM_015335.5(MED13L):c.5175+11G>A
|
|
|
NM_015335.5(MED13L):c.5175+19A>G
|
|
|
NM_015335.5(MED13L):c.5175+1G>A
|
|
|
NM_015335.5(MED13L):c.5176-17dup
|
rs138808854
|
|
NM_015335.5(MED13L):c.5176-8G>A
|
|
|
NM_015335.5(MED13L):c.5181G>C (p.Val1727=)
|
rs2137265025
|
|
NM_015335.5(MED13L):c.5192A>G (p.Tyr1731Cys)
|
|
|
NM_015335.5(MED13L):c.5211G>A (p.Lys1737=)
|
|
|
NM_015335.5(MED13L):c.5253A>G (p.Ala1751=)
|
|
|
NM_015335.5(MED13L):c.5282C>A (p.Pro1761Gln)
|
|
|
NM_015335.5(MED13L):c.5283A>G (p.Pro1761=)
|
rs2137264574
|
|
NM_015335.5(MED13L):c.5284C>T (p.Leu1762=)
|
rs200641273
|
|
NM_015335.5(MED13L):c.5295G>A (p.Gln1765=)
|
|
|
NM_015335.5(MED13L):c.5299C>T (p.His1767Tyr)
|
rs2137264450
|
|
NM_015335.5(MED13L):c.5308T>C (p.Ser1770Pro)
|
|
|
NM_015335.5(MED13L):c.5313C>T (p.Leu1771=)
|
rs1017360857
|
|
NM_015335.5(MED13L):c.5316G>A (p.Thr1772=)
|
rs746426523
|
|
NM_015335.5(MED13L):c.5346G>A (p.Met1782Ile)
|
|
|
NM_015335.5(MED13L):c.5360C>T (p.Pro1787Leu)
|
|
|
NM_015335.5(MED13L):c.5365-15T>G
|
|
|
NM_015335.5(MED13L):c.5365-16T>C
|
|
|
NM_015335.5(MED13L):c.5365-18T>C
|
|
|
NM_015335.5(MED13L):c.5365-20G>T
|
|
|
NM_015335.5(MED13L):c.5365C>T (p.Arg1789Trp)
|
|
|
NM_015335.5(MED13L):c.53A>T (p.His18Leu)
|
|
|
NM_015335.5(MED13L):c.5413A>G (p.Ile1805Val)
|
|
|
NM_015335.5(MED13L):c.5445G>A (p.Thr1815=)
|
|
|
NM_015335.5(MED13L):c.5451T>C (p.Gly1817=)
|
|
|
NM_015335.5(MED13L):c.5457G>A (p.Ala1819=)
|
|
|
NM_015335.5(MED13L):c.5466A>G (p.Lys1822=)
|
|
|
NM_015335.5(MED13L):c.5481C>T (p.Phe1827=)
|
|
|
NM_015335.5(MED13L):c.5482G>T (p.Val1828Leu)
|
|
|
NM_015335.5(MED13L):c.5490T>C (p.Tyr1830=)
|
|
|
NM_015335.5(MED13L):c.5493T>C (p.Cys1831=)
|
|
|
NM_015335.5(MED13L):c.5502C>G (p.His1834Gln)
|
|
|
NM_015335.5(MED13L):c.5531C>G (p.Thr1844Ser)
|
|
|
NM_015335.5(MED13L):c.5540A>G (p.His1847Arg)
|
|
|
NM_015335.5(MED13L):c.5589-15T>G
|
|
|
NM_015335.5(MED13L):c.5589-17A>G
|
|
|
NM_015335.5(MED13L):c.5589-29TTCCCC[3]
|
|
|
NM_015335.5(MED13L):c.5589-9A>G
|
|
|
NM_015335.5(MED13L):c.5594G>A (p.Arg1865Gln)
|
|
|
NM_015335.5(MED13L):c.5603A>C (p.Lys1868Thr)
|
|
|
NM_015335.5(MED13L):c.5607A>T (p.Val1869=)
|
|
|
NM_015335.5(MED13L):c.5631G>T (p.Gln1877His)
|
rs1555241858
|
|
NM_015335.5(MED13L):c.5658T>A (p.Ile1886=)
|
rs1592904456
|
|
NM_015335.5(MED13L):c.5697G>A (p.Gly1899=)
|
|
|
NM_015335.5(MED13L):c.5708G>A (p.Arg1903His)
|
|
|
NM_015335.5(MED13L):c.5716C>T (p.His1906Tyr)
|
rs1876852244
|
|
NM_015335.5(MED13L):c.5766_5769del (p.Thr1923fs)
|
|
|
NM_015335.5(MED13L):c.578A>G (p.Asn193Ser)
|
|
|
NM_015335.5(MED13L):c.5797C>T (p.Arg1933Trp)
|
|
|
NM_015335.5(MED13L):c.5798G>A (p.Arg1933Gln)
|
|
|
NM_015335.5(MED13L):c.5798G>T (p.Arg1933Leu)
|
|
|
NM_015335.5(MED13L):c.5802G>A (p.Met1934Ile)
|
rs554093251
|
|
NM_015335.5(MED13L):c.5817C>T (p.Ala1939=)
|
|
|
NM_015335.5(MED13L):c.5818del (p.Ala1940fs)
|
|
|
NM_015335.5(MED13L):c.5827C>G (p.Pro1943Ala)
|
|
|
NM_015335.5(MED13L):c.5831C>T (p.Ser1944Phe)
|
|
|
NM_015335.5(MED13L):c.583G>A (p.Glu195Lys)
|
|
|
NM_015335.5(MED13L):c.585_586delinsTT (p.Glu195_His196delinsAspTyr)
|
|
|
NM_015335.5(MED13L):c.5891-12T>C
|
|
|
NM_015335.5(MED13L):c.5891-16A>C
|
|
|
NM_015335.5(MED13L):c.5891-16A>G
|
|
|
NM_015335.5(MED13L):c.5891-8C>A
|
|
|
NM_015335.5(MED13L):c.5902A>G (p.Met1968Val)
|
|
|
NM_015335.5(MED13L):c.5929G>A (p.Ala1977Thr)
|
|
|
NM_015335.5(MED13L):c.5939T>A (p.Met1980Lys)
|
rs1876523724
|
|
NM_015335.5(MED13L):c.593A>C (p.His198Pro)
|
rs764593997
|
|
NM_015335.5(MED13L):c.5943G>C (p.Gln1981His)
|
|
|
NM_015335.5(MED13L):c.5946A>G (p.Ser1982=)
|
|
|
NM_015335.5(MED13L):c.5985C>T (p.His1995=)
|
rs1366083664
|
|
NM_015335.5(MED13L):c.59A>G (p.Asn20Ser)
|
|
|
NM_015335.5(MED13L):c.601C>T (p.Gln201Ter)
|
rs1029377279
|
|
NM_015335.5(MED13L):c.6037C>G (p.Pro2013Ala)
|
rs1387712841
|
|
NM_015335.5(MED13L):c.603G>T (p.Gln201His)
|
rs1880117720
|
|
NM_015335.5(MED13L):c.6057C>T (p.Ser2019=)
|
|
|
NM_015335.5(MED13L):c.6060C>T (p.Pro2020=)
|
|
|
NM_015335.5(MED13L):c.6067+16G>A
|
|
|
NM_015335.5(MED13L):c.6067+7A>T
|
|
|
NM_015335.5(MED13L):c.6068-13C>G
|
|
|
NM_015335.5(MED13L):c.6068-17T>C
|
|
|
NM_015335.5(MED13L):c.6068-17del
|
|
|
NM_015335.5(MED13L):c.6108C>T (p.Asp2036=)
|
|
|
NM_015335.5(MED13L):c.611C>T (p.Pro204Leu)
|
|
|
NM_015335.5(MED13L):c.6138C>T (p.Asn2046=)
|
|
|
NM_015335.5(MED13L):c.6139C>G (p.Leu2047Val)
|
|
|
NM_015335.5(MED13L):c.6156C>T (p.Asn2052=)
|
|
|
NM_015335.5(MED13L):c.6189T>A (p.Ser2063=)
|
|
|
NM_015335.5(MED13L):c.6239dup (p.Leu2081fs)
|
|
|
NM_015335.5(MED13L):c.6245T>A (p.Leu2082His)
|
rs2137203239
|
|
NM_015335.5(MED13L):c.625+15T>G
|
|
|
NM_015335.5(MED13L):c.625+16C>G
|
|
|
NM_015335.5(MED13L):c.625+8T>G
|
|
|
NM_015335.5(MED13L):c.626-12T>C
|
|
|
NM_015335.5(MED13L):c.626-13C>T
|
|
|
NM_015335.5(MED13L):c.6279G>A (p.Gln2093=)
|
|
|
NM_015335.5(MED13L):c.6280C>T (p.Pro2094Ser)
|
|
|
NM_015335.5(MED13L):c.6301G>A (p.Val2101Ile)
|
|
|
NM_015335.5(MED13L):c.6303A>G (p.Val2101=)
|
|
|
NM_015335.5(MED13L):c.6311C>T (p.Ala2104Val)
|
rs1177608611
|
|
NM_015335.5(MED13L):c.6329C>T (p.Pro2110Leu)
|
|
|
NM_015335.5(MED13L):c.6387+11_6387+12insCTTAAAGGTTG
|
|
|
NM_015335.5(MED13L):c.6387+20A>G
|
|
|
NM_015335.5(MED13L):c.6387+4G>C
|
|
|
NM_015335.5(MED13L):c.6387+8del
|
|
|
NM_015335.5(MED13L):c.6388-13G>A
|
|
|
NM_015335.5(MED13L):c.6388-21CT[2]
|
|
|
NM_015335.5(MED13L):c.6388-4C>T
|
|
|
NM_015335.5(MED13L):c.6388-7dup
|
rs753004245
|
|
NM_015335.5(MED13L):c.641A>G (p.Tyr214Cys)
|
|
|
NM_015335.5(MED13L):c.6435G>T (p.Leu2145=)
|
|
|
NM_015335.5(MED13L):c.6441C>G (p.Ala2147=)
|
|
|
NM_015335.5(MED13L):c.6454C>T (p.Arg2152Trp)
|
|
|
NM_015335.5(MED13L):c.6485C>T (p.Thr2162Met)
|
rs869312707
|
|
NM_015335.5(MED13L):c.6500+18C>T
|
|
|
NM_015335.5(MED13L):c.6501-18G>C
|
|
|
NM_015335.5(MED13L):c.6501-9C>G
|
rs2137182384
|
|
NM_015335.5(MED13L):c.6540G>A (p.Thr2180=)
|
rs371240974
|
|
NM_015335.5(MED13L):c.6562C>T (p.Arg2188Cys)
|
|
|
NM_015335.5(MED13L):c.6569C>G (p.Ser2190Cys)
|
|
|
NM_015335.5(MED13L):c.6570dup (p.Cys2191fs)
|
rs1592888491
|
|
NM_015335.5(MED13L):c.6579C>T (p.Pro2193=)
|
|
|
NM_015335.5(MED13L):c.6582C>T (p.Val2194=)
|
|
|
NM_015335.5(MED13L):c.672A>G (p.Ala224=)
|
|
|
NM_015335.5(MED13L):c.681_682delinsTG (p.Met227_Ser228delinsIleAla)
|
|
|
NM_015335.5(MED13L):c.698G>T (p.Arg233Leu)
|
|
|
NM_015335.5(MED13L):c.70C>T (p.Leu24=)
|
|
|
NM_015335.5(MED13L):c.712G>T (p.Glu238Ter)
|
rs1879953298
|
|
NM_015335.5(MED13L):c.722A>G (p.Tyr241Cys)
|
rs564830776
|
|
NM_015335.5(MED13L):c.727T>C (p.Tyr243His)
|
|
|
NM_015335.5(MED13L):c.73-10_73-9dup
|
rs765651929
|
|
NM_015335.5(MED13L):c.73-19A>T
|
|
|
NM_015335.5(MED13L):c.732G>A (p.Pro244=)
|
|
|
NM_015335.5(MED13L):c.732G>C (p.Pro244=)
|
|
|
NM_015335.5(MED13L):c.752A>G (p.Glu251Gly)
|
rs28940309
|
|
NM_015335.5(MED13L):c.758C>T (p.Ser253Leu)
|
|
|
NM_015335.5(MED13L):c.780A>G (p.Gly260=)
|
|
|
NM_015335.5(MED13L):c.785A>G (p.Asp262Gly)
|
|
|
NM_015335.5(MED13L):c.789T>C (p.Asp263=)
|
|
|
NM_015335.5(MED13L):c.7G>A (p.Ala3Thr)
|
|
|
NM_015335.5(MED13L):c.813A>G (p.Val271=)
|
|
|
NM_015335.5(MED13L):c.829C>G (p.Arg277Gly)
|
|
|
NM_015335.5(MED13L):c.83C>T (p.Thr28Met)
|
|
|
NM_015335.5(MED13L):c.867G>C (p.Gln289His)
|
|
|
NM_015335.5(MED13L):c.942T>C (p.Ser314=)
|
|
|
NM_015335.5(MED13L):c.979C>T (p.Pro327Ser)
|
|
|
NM_015335.5(MED13L):c.987C>G (p.Thr329=)
|
|
|
NM_015335.5(MED13L):c.993A>G (p.Pro331=)
|
rs780190117
|
|
NM_018055.5(NODAL):c.1012G>C (p.Asp338His)
|
|
|
NM_018055.5(NODAL):c.1039C>T (p.Leu347Phe)
|
|
|
NM_018055.5(NODAL):c.107C>G (p.Ser36Trp)
|
rs1380108149
|
|
NM_018055.5(NODAL):c.130A>C (p.Met44Leu)
|
|
|
NM_018055.5(NODAL):c.152C>T (p.Pro51Leu)
|
|
|
NM_018055.5(NODAL):c.193+4G>A
|
|
|
NM_018055.5(NODAL):c.222G>A (p.Thr74=)
|
|
|
NM_018055.5(NODAL):c.254A>G (p.Gln85Arg)
|
rs1845347178
|
|
NM_018055.5(NODAL):c.272C>A (p.Ala91Asp)
|
|
|
NM_018055.5(NODAL):c.291G>T (p.Leu97=)
|
|
|
NM_018055.5(NODAL):c.347A>T (p.Gln116Leu)
|
rs1845345139
|
|
NM_018055.5(NODAL):c.361A>T (p.Thr121Ser)
|
|
|
NM_018055.5(NODAL):c.397C>T (p.Gln133Ter)
|
rs1447874899
|
|
NM_018055.5(NODAL):c.406C>T (p.Leu136=)
|
|
|
NM_018055.5(NODAL):c.419C>T (p.Thr140Ile)
|
rs2132215381
|
|
NM_018055.5(NODAL):c.446del (p.Gly149fs)
|
rs1589152470
|
|
NM_018055.5(NODAL):c.474T>A (p.Pro158=)
|
|
|
NM_018055.5(NODAL):c.53A>G (p.Gln18Arg)
|
rs1441391199
|
|
NM_018055.5(NODAL):c.555del (p.Thr186fs)
|
rs772802856
|
|
NM_018055.5(NODAL):c.661C>A (p.Arg221=)
|
rs144444359
|
|
NM_018055.5(NODAL):c.673G>A (p.Gly225Arg)
|
rs1564667208
|
|
NM_018055.5(NODAL):c.679C>G (p.Leu227Val)
|
rs1589152298
|
|
NM_018055.5(NODAL):c.68C>T (p.Thr23Met)
|
|
|
NM_018055.5(NODAL):c.759G>A (p.Gln253=)
|
rs1554850001
|
|
NM_018055.5(NODAL):c.819C>G (p.Ala273=)
|
rs749265748
|
|
NM_018055.5(NODAL):c.835G>A (p.Glu279Lys)
|
|
|
NM_018055.5(NODAL):c.870G>A (p.Pro290=)
|
|
|
NM_018055.5(NODAL):c.870G>T (p.Pro290=)
|
rs763525961
|
|
NM_018055.5(NODAL):c.891+19G>C
|
|
|
NM_018055.5(NODAL):c.891+2T>A
|
rs1564667078
|
|
NM_018055.5(NODAL):c.914C>T (p.Pro305Leu)
|
|
|
NM_018055.5(NODAL):c.93G>A (p.Thr31=)
|
|
|
NM_021005.4(NR2F2):c.1000G>C (p.Val334Leu)
|
rs1474147673
|
|
NM_021005.4(NR2F2):c.1008C>T (p.Ser336=)
|
rs767004289
|
|
NM_021005.4(NR2F2):c.1234G>T (p.Ala412Ser)
|
|
|
NM_021005.4(NR2F2):c.150C>T (p.Ser50=)
|
|
|
NM_021005.4(NR2F2):c.203G>A (p.Ser68Asn)
|
|
|
NM_021005.4(NR2F2):c.204C>G (p.Ser68Arg)
|
rs1381103214
|
|
NM_021005.4(NR2F2):c.210G>A (p.Lys70=)
|
rs1899171814
|
|
NM_021005.4(NR2F2):c.217C>T (p.Gln73Ter)
|
rs1899172049
|
|
NM_021005.4(NR2F2):c.237C>T (p.Cys79=)
|
|
|
NM_021005.4(NR2F2):c.269A>G (p.His90Arg)
|
rs2141166925
|
|
NM_021005.4(NR2F2):c.276C>T (p.Gly92=)
|
rs1332151769
|
|
NM_021005.4(NR2F2):c.309C>G (p.Phe103Leu)
|
rs1899174214
|
|
NM_021005.4(NR2F2):c.36G>A (p.Gln12=)
|
rs2141166624
|
|
NM_021005.4(NR2F2):c.414G>A (p.Lys138=)
|
rs1373249033
|
|
NM_021005.4(NR2F2):c.456C>T (p.Gly152=)
|
|
|
NM_021005.4(NR2F2):c.468G>T (p.Pro156=)
|
rs746596432
|
|
NM_021005.4(NR2F2):c.538G>A (p.Gly180Arg)
|
rs2141169030
|
|
NM_021005.4(NR2F2):c.604C>T (p.Gln202Ter)
|
rs2141169116
|
|
NM_021005.4(NR2F2):c.616A>C (p.Ile206Leu)
|
|
|
NM_021005.4(NR2F2):c.648C>A (p.Ala216=)
|
|
|
NM_021005.4(NR2F2):c.671T>A (p.Val224Asp)
|
rs1899253390
|
|
NM_021005.4(NR2F2):c.682C>T (p.Arg228Trp)
|
rs1899253743
|
|
NM_021005.4(NR2F2):c.687C>T (p.Asn229=)
|
|
|
NM_021005.4(NR2F2):c.709C>T (p.Gln237Ter)
|
rs878855066
|
|
NM_021005.4(NR2F2):c.819C>T (p.Ala273=)
|
|
|
NM_021005.4(NR2F2):c.879G>A (p.Arg293=)
|
|
|
NM_021005.4(NR2F2):c.948G>T (p.Lys316Asn)
|
rs1899261470
|
|
NM_021005.4(NR2F2):c.958C>T (p.Leu320=)
|
rs1596428579
|
|
NM_021005.4(NR2F2):c.95C>G (p.Pro32Arg)
|
|
|
NM_021005.4(NR2F2):c.970+12_970+16dup
|
rs563165104
|
|
NM_022114.4(PRDM16):c.1007G>A (p.Arg336His)
|
|
|
NM_022114.4(PRDM16):c.1011C>T (p.Phe337=)
|
|
|
NM_022114.4(PRDM16):c.101C>T (p.Ala34Val)
|
rs779535977
|
|
NM_022114.4(PRDM16):c.1023C>T (p.Asn341=)
|
|
|
NM_022114.4(PRDM16):c.1027G>A (p.Val343Met)
|
|
|
NM_022114.4(PRDM16):c.1032+10G>A
|
|
|
NM_022114.4(PRDM16):c.1032+12G>C
|
|
|
NM_022114.4(PRDM16):c.1032+13G>A
|
|
|
NM_022114.4(PRDM16):c.1032+20C>T
|
|
|
NM_022114.4(PRDM16):c.1032+21_1032+66del
|
|
|
NM_022114.4(PRDM16):c.1032+5C>T
|
|
|
NM_022114.4(PRDM16):c.1032+6C>A
|
rs760680871
|
|
NM_022114.4(PRDM16):c.1032G>C (p.Lys344Asn)
|
rs2100646305
|
|
NM_022114.4(PRDM16):c.1033-11C>T
|
|
|
NM_022114.4(PRDM16):c.1033-14A>T
|
|
|
NM_022114.4(PRDM16):c.1033-17G>A
|
|
|
NM_022114.4(PRDM16):c.1033-18C>T
|
|
|
NM_022114.4(PRDM16):c.1033-5C>G
|
|
|
NM_022114.4(PRDM16):c.1033-8C>T
|
rs1049463147
|
|
NM_022114.4(PRDM16):c.103G>A (p.Glu35Lys)
|
|
|
NM_022114.4(PRDM16):c.1047dup (p.Ser350fs)
|
rs1643547095
|
|
NM_022114.4(PRDM16):c.1056dup (p.Gln353fs)
|
rs1643547220
|
|
NM_022114.4(PRDM16):c.1061G>A (p.Arg354Gln)
|
|
|
NM_022114.4(PRDM16):c.1065C>T (p.His355=)
|
|
|
NM_022114.4(PRDM16):c.1069C>T (p.Arg357Cys)
|
|
|
NM_022114.4(PRDM16):c.1074G>A (p.Ser358=)
|
rs767835445
|
|
NM_022114.4(PRDM16):c.1074G>T (p.Ser358=)
|
rs767835445
|
|
NM_022114.4(PRDM16):c.1081G>A (p.Val361Met)
|
rs876657957
|
|
NM_022114.4(PRDM16):c.1085G>A (p.Gly362Asp)
|
|
|
NM_022114.4(PRDM16):c.1086C>T (p.Gly362=)
|
|
|
NM_022114.4(PRDM16):c.1088C>T (p.Ala363Val)
|
|
|
NM_022114.4(PRDM16):c.1108G>A (p.Asp370Asn)
|
|
|
NM_022114.4(PRDM16):c.1114G>A (p.Gly372Arg)
|
|
|
NM_022114.4(PRDM16):c.1134C>T (p.Ser378=)
|
rs200169663
|
|
NM_022114.4(PRDM16):c.1185A>G (p.Ile395Met)
|
|
|
NM_022114.4(PRDM16):c.1196G>A (p.Cys399Tyr)
|
rs2100662054
|
|
NM_022114.4(PRDM16):c.1200C>T (p.His400=)
|
rs1569727120
|
|
NM_022114.4(PRDM16):c.1232G>A (p.Arg411Gln)
|
|
|
NM_022114.4(PRDM16):c.1233G>C (p.Arg411=)
|
rs2100662097
|
|
NM_022114.4(PRDM16):c.1239G>A (p.Lys413=)
|
|
|
NM_022114.4(PRDM16):c.1242G>C (p.Arg414=)
|
rs2100662106
|
|
NM_022114.4(PRDM16):c.1242del (p.Met415fs)
|
rs1643684087
|
|
NM_022114.4(PRDM16):c.1248C>T (p.His416=)
|
|
|
NM_022114.4(PRDM16):c.1252G>A (p.Asp418Asn)
|
|
|
NM_022114.4(PRDM16):c.1253A>G (p.Asp418Gly)
|
rs2100662132
|
|
NM_022114.4(PRDM16):c.1272G>A (p.Lys424=)
|
|
|
NM_022114.4(PRDM16):c.1302T>C (p.Thr434=)
|
|
|
NM_022114.4(PRDM16):c.1326G>A (p.Arg442=)
|
rs766131529
|
|
NM_022114.4(PRDM16):c.1327C>T (p.Arg443Cys)
|
|
|
NM_022114.4(PRDM16):c.1335C>T (p.Cys445=)
|
|
|
NM_022114.4(PRDM16):c.1338G>A (p.Glu446=)
|
|
|
NM_022114.4(PRDM16):c.1348C>T (p.His450Tyr)
|
|
|
NM_022114.4(PRDM16):c.134C>A (p.Pro45His)
|
rs1644265658
|
|
NM_022114.4(PRDM16):c.1351T>C (p.Tyr451His)
|
|
|
NM_022114.4(PRDM16):c.1356G>A (p.Thr452=)
|
rs567761188
|
|
NM_022114.4(PRDM16):c.1362C>T (p.Gly454=)
|
|
|
NM_022114.4(PRDM16):c.1366A>G (p.Ile456Val)
|
rs748673433
|
|
NM_022114.4(PRDM16):c.1376C>T (p.Pro459Leu)
|
|
|
NM_022114.4(PRDM16):c.1385C>G (p.Pro462Arg)
|
|
|
NM_022114.4(PRDM16):c.1386C>G (p.Pro462=)
|
|
|
NM_022114.4(PRDM16):c.1392C>T (p.Thr464=)
|
rs2100662376
|
|
NM_022114.4(PRDM16):c.1394C>T (p.Pro465Leu)
|
|
|
NM_022114.4(PRDM16):c.1419A>C (p.Lys473Asn)
|
rs1569727906
|
|
NM_022114.4(PRDM16):c.1422C>G (p.Pro474=)
|
|
|
NM_022114.4(PRDM16):c.1434_1448del (p.Asn479_Leu483del)
|
|
|
NM_022114.4(PRDM16):c.1458C>T (p.Asn486=)
|
|
|
NM_022114.4(PRDM16):c.1476G>A (p.Arg492=)
|
|
|
NM_022114.4(PRDM16):c.1478C>G (p.Pro493Arg)
|
|
|
NM_022114.4(PRDM16):c.1478C>T (p.Pro493Leu)
|
rs368384353
|
|
NM_022114.4(PRDM16):c.1482C>G (p.His494Gln)
|
rs755193238
|
|
NM_022114.4(PRDM16):c.1482C>T (p.His494=)
|
|
|
NM_022114.4(PRDM16):c.1490G>A (p.Ser497Asn)
|
|
|
NM_022114.4(PRDM16):c.1491C>T (p.Ser497=)
|
|
|
NM_022114.4(PRDM16):c.1495C>T (p.Pro499Ser)
|
rs1553176454
|
|
NM_022114.4(PRDM16):c.1496_1497del (p.Pro499fs)
|
|
|
NM_022114.4(PRDM16):c.1506G>C (p.Thr502=)
|
rs375543158
|
|
NM_022114.4(PRDM16):c.1513C>T (p.Pro505Ser)
|
|
|
NM_022114.4(PRDM16):c.152C>T (p.Pro51Leu)
|
|
|
NM_022114.4(PRDM16):c.1530C>G (p.Leu510=)
|
rs1643690100
|
|
NM_022114.4(PRDM16):c.1541T>C (p.Phe514Ser)
|
|
|
NM_022114.4(PRDM16):c.1566G>A (p.Leu522=)
|
|
|
NM_022114.4(PRDM16):c.1597_1598delinsCT (p.Ser533Leu)
|
rs1643691703
|
|
NM_022114.4(PRDM16):c.1600C>A (p.Leu534Met)
|
|
|
NM_022114.4(PRDM16):c.1611C>T (p.Ser537=)
|
rs2100662881
|
|
NM_022114.4(PRDM16):c.1615dup (p.Leu539fs)
|
|
|
NM_022114.4(PRDM16):c.1625C>A (p.Thr542Asn)
|
rs573253046
|
|
NM_022114.4(PRDM16):c.1634C>T (p.Ala545Val)
|
|
|
NM_022114.4(PRDM16):c.1638G>A (p.Lys546=)
|
rs1569729040
|
|
NM_022114.4(PRDM16):c.1677C>A (p.Val559=)
|
|
|
NM_022114.4(PRDM16):c.1681G>A (p.Ala561Thr)
|
|
|
NM_022114.4(PRDM16):c.1683C>T (p.Ala561=)
|
rs771966209
|
|
NM_022114.4(PRDM16):c.1700A>G (p.Gln567Arg)
|
rs1643694103
|
|
NM_022114.4(PRDM16):c.1718C>T (p.Ala573Val)
|
|
|
NM_022114.4(PRDM16):c.1726GAG[1] (p.Glu577del)
|
rs779522289
|
|
NM_022114.4(PRDM16):c.1737C>A (p.Phe579Leu)
|
rs35579804
|
|
NM_022114.4(PRDM16):c.1737C>G (p.Phe579Leu)
|
rs35579804
|
|
NM_022114.4(PRDM16):c.1738G>C (p.Glu580Gln)
|
|
|
NM_022114.4(PRDM16):c.1753G>A (p.Asp585Asn)
|
rs1643695439
|
|
NM_022114.4(PRDM16):c.1755C>G (p.Asp585Glu)
|
|
|
NM_022114.4(PRDM16):c.1759T>C (p.Cys587Arg)
|
|
|
NM_022114.4(PRDM16):c.1761T>C (p.Cys587=)
|
|
|
NM_022114.4(PRDM16):c.1794G>A (p.Met598Ile)
|
|
|
NM_022114.4(PRDM16):c.1797G>C (p.Ser599=)
|
|
|
NM_022114.4(PRDM16):c.1803C>T (p.Gly601=)
|
rs1643696853
|
|
NM_022114.4(PRDM16):c.1819G>A (p.Val607Ile)
|
|
|
NM_022114.4(PRDM16):c.1819_1823delinsTTCAT (p.Val607_Asn608delinsPheIle)
|
rs1553176630
|
|
NM_022114.4(PRDM16):c.1829C>T (p.Thr610Ile)
|
rs1231085914
|
|
NM_022114.4(PRDM16):c.1833G>A (p.Thr611=)
|
|
|
NM_022114.4(PRDM16):c.1836G>A (p.Gly612=)
|
rs2100663379
|
|
NM_022114.4(PRDM16):c.1840G>A (p.Asp614Asn)
|
|
|
NM_022114.4(PRDM16):c.184C>T (p.Pro62Ser)
|
|
|
NM_022114.4(PRDM16):c.1855A>T (p.Thr619Ser)
|
rs1643698269
|
|
NM_022114.4(PRDM16):c.1857G>A (p.Thr619=)
|
|
|
NM_022114.4(PRDM16):c.185C>T (p.Pro62Leu)
|
|
|
NM_022114.4(PRDM16):c.1862C>T (p.Thr621Met)
|
|
|
NM_022114.4(PRDM16):c.1865G>A (p.Gly622Asp)
|
|
|
NM_022114.4(PRDM16):c.1866C>T (p.Gly622=)
|
|
|
NM_022114.4(PRDM16):c.1881C>T (p.Ser627=)
|
|
|
NM_022114.4(PRDM16):c.1885G>A (p.Val629Met)
|
|
|
NM_022114.4(PRDM16):c.1894G>A (p.Asp632Asn)
|
|
|
NM_022114.4(PRDM16):c.1901ACAAGG[1] (p.634DK[1])
|
rs772557308
|
|
NM_022114.4(PRDM16):c.1906G>A (p.Asp636Asn)
|
|
|
NM_022114.4(PRDM16):c.1912GGCAAG[1] (p.638GK[1])
|
|
|
NM_022114.4(PRDM16):c.192G>A (p.Glu64=)
|
|
|
NM_022114.4(PRDM16):c.1930G>C (p.Glu644Gln)
|
rs61756438
|
|
NM_022114.4(PRDM16):c.1953C>T (p.Gly651=)
|
rs780589589
|
|
NM_022114.4(PRDM16):c.1961_1970del (p.Ala654fs)
|
rs2100663690
|
|
NM_022114.4(PRDM16):c.1967C>T (p.Pro656Leu)
|
|
|
NM_022114.4(PRDM16):c.1968G>A (p.Pro656=)
|
|
|
NM_022114.4(PRDM16):c.1971G>T (p.Gly657=)
|
|
|
NM_022114.4(PRDM16):c.1983C>T (p.Ser661=)
|
rs764211215
|
|
NM_022114.4(PRDM16):c.1988C>T (p.Ala663Val)
|
|
|
NM_022114.4(PRDM16):c.198G>A (p.Ser66=)
|
|
|
NM_022114.4(PRDM16):c.1992G>A (p.Glu664=)
|
rs1222175268
|
|
NM_022114.4(PRDM16):c.1996C>G (p.Pro666Ala)
|
rs2100663792
|
|
NM_022114.4(PRDM16):c.2006A>G (p.Tyr669Cys)
|
rs1643702661
|
|
NM_022114.4(PRDM16):c.200C>T (p.Pro67Leu)
|
rs1060501005
|
|
NM_022114.4(PRDM16):c.2016C>G (p.His672Gln)
|
|
|
NM_022114.4(PRDM16):c.2021T>A (p.Phe674Tyr)
|
|
|
NM_022114.4(PRDM16):c.2027C>T (p.Pro676Leu)
|
|
|
NM_022114.4(PRDM16):c.2028G>A (p.Pro676=)
|
|
|
NM_022114.4(PRDM16):c.2035G>A (p.Asp679Asn)
|
rs772689095
|
|
NM_022114.4(PRDM16):c.2061C>T (p.Gly687=)
|
|
|
NM_022114.4(PRDM16):c.2064C>T (p.Ala688=)
|
|
|
NM_022114.4(PRDM16):c.2079C>T (p.Ile693=)
|
rs1569731370
|
|
NM_022114.4(PRDM16):c.2089G>A (p.Ala697Thr)
|
|
|
NM_022114.4(PRDM16):c.2089G>T (p.Ala697Ser)
|
rs779334537
|
|
NM_022114.4(PRDM16):c.2100C>G (p.Ala700=)
|
rs565237990
|
|
NM_022114.4(PRDM16):c.2113G>C (p.Gly705Arg)
|
|
|
NM_022114.4(PRDM16):c.2114del (p.Gly705fs)
|
rs1643705557
|
|
NM_022114.4(PRDM16):c.2119G>A (p.Gly707Ser)
|
|
|
NM_022114.4(PRDM16):c.2119G>C (p.Gly707Arg)
|
rs767432596
|
|
NM_022114.4(PRDM16):c.2132T>A (p.Met711Lys)
|
rs2100664117
|
|
NM_022114.4(PRDM16):c.2133G>A (p.Met711Ile)
|
|
|
NM_022114.4(PRDM16):c.2133G>T (p.Met711Ile)
|
rs1171883892
|
|
NM_022114.4(PRDM16):c.2134C>G (p.Gln712Glu)
|
rs2100664124
|
|
NM_022114.4(PRDM16):c.213del (p.Val72fs)
|
rs1569798933
|
|
NM_022114.4(PRDM16):c.2148G>C (p.Leu716=)
|
rs886908974
|
|
NM_022114.4(PRDM16):c.2150G>A (p.Gly717Asp)
|
|
|
NM_022114.4(PRDM16):c.2161T>A (p.Tyr721Asn)
|
rs2100664195
|
|
NM_022114.4(PRDM16):c.2167T>A (p.Ser723Thr)
|
rs1643706770
|
|
NM_022114.4(PRDM16):c.2168C>T (p.Ser723Leu)
|
rs769438373
|
|
NM_022114.4(PRDM16):c.2171C>T (p.Ala724Val)
|
|
|
NM_022114.4(PRDM16):c.2175C>A (p.Phe725Leu)
|
|
|
NM_022114.4(PRDM16):c.2175C>T (p.Phe725=)
|
rs760788835
|
|
NM_022114.4(PRDM16):c.217T>G (p.Tyr73Asp)
|
rs2100798027
|
|
NM_022114.4(PRDM16):c.2191C>T (p.Pro731Ser)
|
|
|
NM_022114.4(PRDM16):c.2196C>T (p.Asn732=)
|
rs765462018
|
|
NM_022114.4(PRDM16):c.219C>T (p.Tyr73=)
|
rs2100798029
|
|
NM_022114.4(PRDM16):c.2216C>A (p.Pro739His)
|
|
|
NM_022114.4(PRDM16):c.2225A>G (p.Asp742Gly)
|
rs1643707625
|
|
NM_022114.4(PRDM16):c.2227C>G (p.Arg743Gly)
|
rs560412765
|
|
NM_022114.4(PRDM16):c.2227C>T (p.Arg743Ter)
|
rs560412765
|
|
NM_022114.4(PRDM16):c.2228G>A (p.Arg743Gln)
|
|
|
NM_022114.4(PRDM16):c.2228_2229inv (p.Arg743Leu)
|
|
|
NM_022114.4(PRDM16):c.2235C>T (p.Leu745=)
|
|
|
NM_022114.4(PRDM16):c.2236G>A (p.Ala746Thr)
|
rs375259092
|
|
NM_022114.4(PRDM16):c.2236G>T (p.Ala746Ser)
|
|
|
NM_022114.4(PRDM16):c.2244C>G (p.Asn748Lys)
|
|
|
NM_022114.4(PRDM16):c.2247G>A (p.Leu749=)
|
rs1553176942
|
|
NM_022114.4(PRDM16):c.2247G>C (p.Leu749Phe)
|
|
|
NM_022114.4(PRDM16):c.2248C>T (p.Leu750=)
|
|
|
NM_022114.4(PRDM16):c.2253C>G (p.Val751=)
|
|
|
NM_022114.4(PRDM16):c.2259C>G (p.Ala753=)
|
rs548246861
|
|
NM_022114.4(PRDM16):c.2259_2260delinsTC (p.Glu754Gln)
|
rs2100664386
|
|
NM_022114.4(PRDM16):c.225T>G (p.Pro75=)
|
|
|
NM_022114.4(PRDM16):c.2263C>A (p.Pro755Thr)
|
|
|
NM_022114.4(PRDM16):c.2272C>T (p.Pro758Ser)
|
|
|
NM_022114.4(PRDM16):c.2280C>T (p.Asp760=)
|
rs568097564
|
|
NM_022114.4(PRDM16):c.2291T>G (p.Val764Gly)
|
|
|
NM_022114.4(PRDM16):c.2298C>T (p.Gly766=)
|
|
|
NM_022114.4(PRDM16):c.2302A>G (p.Ser768Gly)
|
rs772054022
|
|
NM_022114.4(PRDM16):c.2304T>G (p.Ser768Arg)
|
|
|
NM_022114.4(PRDM16):c.2310G>C (p.Glu770Asp)
|
rs1643709736
|
|
NM_022114.4(PRDM16):c.2331C>A (p.Thr777=)
|
rs1341380134
|
|
NM_022114.4(PRDM16):c.2334G>C (p.Lys778Asn)
|
rs1569732620
|
|
NM_022114.4(PRDM16):c.2336C>G (p.Pro779Arg)
|
|
|
NM_022114.4(PRDM16):c.2336C>T (p.Pro779Leu)
|
|
|
NM_022114.4(PRDM16):c.2339A>G (p.Lys780Arg)
|
rs1038198761
|
|
NM_022114.4(PRDM16):c.2344G>A (p.Val782Met)
|
|
|
NM_022114.4(PRDM16):c.2344G>T (p.Val782Leu)
|
rs763116381
|
|
NM_022114.4(PRDM16):c.2360C>T (p.Pro787Leu)
|
|
|
NM_022114.4(PRDM16):c.2361C>T (p.Pro787=)
|
|
|
NM_022114.4(PRDM16):c.2378C>T (p.Ser793Leu)
|
|
|
NM_022114.4(PRDM16):c.237G>A (p.Pro79=)
|
rs143467979
|
|
NM_022114.4(PRDM16):c.237G>T (p.Pro79=)
|
rs143467979
|
|
NM_022114.4(PRDM16):c.2389T>C (p.Ser797Pro)
|
rs2100664655
|
|
NM_022114.4(PRDM16):c.2391C>A (p.Ser797=)
|
rs370931714
|
|
NM_022114.4(PRDM16):c.2391C>T (p.Ser797=)
|
rs370931714
|
|
NM_022114.4(PRDM16):c.2395G>A (p.Glu799Lys)
|
|
|
NM_022114.4(PRDM16):c.2405C>T (p.Pro802Leu)
|
rs1213107052
|
|
NM_022114.4(PRDM16):c.2413C>T (p.Leu805=)
|
rs2100664712
|
|
NM_022114.4(PRDM16):c.2415G>C (p.Leu805=)
|
|
|
NM_022114.4(PRDM16):c.2428dup (p.Arg810fs)
|
|
|
NM_022114.4(PRDM16):c.2429G>A (p.Arg810Gln)
|
|
|
NM_022114.4(PRDM16):c.2443C>T (p.Gln815Ter)
|
rs1060500997
|
|
NM_022114.4(PRDM16):c.2448C>T (p.Asn816=)
|
rs372189819
|
|
NM_022114.4(PRDM16):c.2455G>C (p.Gly819Arg)
|
|
|
NM_022114.4(PRDM16):c.2456G>A (p.Gly819Glu)
|
rs2100664858
|
|
NM_022114.4(PRDM16):c.2468G>A (p.Arg823His)
|
rs371654192
|
|
NM_022114.4(PRDM16):c.2468G>C (p.Arg823Pro)
|
rs371654192
|
|
NM_022114.4(PRDM16):c.246A>G (p.Ala82=)
|
rs765564758
|
|
NM_022114.4(PRDM16):c.2472G>A (p.Lys824=)
|
rs912467063
|
|
NM_022114.4(PRDM16):c.2498T>C (p.Leu833Pro)
|
rs1569733602
|
|
NM_022114.4(PRDM16):c.2513_2524dup (p.Gly838_Gln841dup)
|
rs771093380
|
|
NM_022114.4(PRDM16):c.2519C>A (p.Pro840His)
|
|
|
NM_022114.4(PRDM16):c.2521_2526dup (p.Gln841_Val842dup)
|
rs776728016
|
|
NM_022114.4(PRDM16):c.2531C>T (p.Pro844Leu)
|
|
|
NM_022114.4(PRDM16):c.2534C>T (p.Ala845Val)
|
|
|
NM_022114.4(PRDM16):c.2535G>A (p.Ala845=)
|
rs1004240763
|
|
NM_022114.4(PRDM16):c.2535G>C (p.Ala845=)
|
rs1004240763
|
|
NM_022114.4(PRDM16):c.2537G>A (p.Arg846Gln)
|
|
|
NM_022114.4(PRDM16):c.2555C>T (p.Pro852Leu)
|
|
|
NM_022114.4(PRDM16):c.2590G>A (p.Asp864Asn)
|
rs1182769018
|
|
NM_022114.4(PRDM16):c.2593C>A (p.Pro865Thr)
|
|
|
NM_022114.4(PRDM16):c.2594C>G (p.Pro865Arg)
|
rs912508418
|
|
NM_022114.4(PRDM16):c.2596A>T (p.Ile866Phe)
|
|
|
NM_022114.4(PRDM16):c.259C>T (p.Arg87Ter)
|
|
|
NM_022114.4(PRDM16):c.2600A>G (p.Tyr867Cys)
|
rs1643715642
|
|
NM_022114.4(PRDM16):c.2604-16C>T
|
rs368705439
|
|
NM_022114.4(PRDM16):c.2604-1G>T
|
rs1468393697
|
|
NM_022114.4(PRDM16):c.2604-20C>A
|
rs1219390021
|
|
NM_022114.4(PRDM16):c.2617C>T (p.Arg873Trp)
|
|
|
NM_022114.4(PRDM16):c.2631C>A (p.Asp877Glu)
|
rs1643748009
|
|
NM_022114.4(PRDM16):c.2664G>C (p.Arg888=)
|
|
|
NM_022114.4(PRDM16):c.2667G>T (p.Pro889=)
|
rs774537766
|
|
NM_022114.4(PRDM16):c.2670C>T (p.Ser890=)
|
|
|
NM_022114.4(PRDM16):c.2686C>T (p.Pro896Ser)
|
|
|
NM_022114.4(PRDM16):c.2689C>T (p.Gln897Ter)
|
rs1643749630
|
|
NM_022114.4(PRDM16):c.2692-19C>T
|
|
|
NM_022114.4(PRDM16):c.2692-3C>T
|
|
|
NM_022114.4(PRDM16):c.2692-9T>C
|
|
|
NM_022114.4(PRDM16):c.2694G>A (p.Met898Ile)
|
rs759958364
|
|
NM_022114.4(PRDM16):c.270C>A (p.Ser90=)
|
rs1569799111
|
|
NM_022114.4(PRDM16):c.2724G>A (p.Leu908=)
|
rs757917553
|
|
NM_022114.4(PRDM16):c.2743A>C (p.Lys915Gln)
|
rs1638313904
|
|
NM_022114.4(PRDM16):c.2743A>G (p.Lys915Glu)
|
|
|
NM_022114.4(PRDM16):c.2749G>T (p.Asp917Tyr)
|
rs2100675937
|
|
NM_022114.4(PRDM16):c.2753C>T (p.Ser918Leu)
|
|
|
NM_022114.4(PRDM16):c.2755G>T (p.Gly919Cys)
|
|
|
NM_022114.4(PRDM16):c.2761T>C (p.Ser921Pro)
|
|
|
NM_022114.4(PRDM16):c.2764C>T (p.Leu922=)
|
rs576629075
|
|
NM_022114.4(PRDM16):c.2769G>T (p.Gln923His)
|
rs771212094
|
|
NM_022114.4(PRDM16):c.2778C>G (p.Pro926=)
|
|
|
NM_022114.4(PRDM16):c.2780A>C (p.His927Pro)
|
rs763577669
|
|
NM_022114.4(PRDM16):c.2798G>A (p.Arg933Gln)
|
rs572092688
|
|
NM_022114.4(PRDM16):c.2802_2804del (p.Pro937del)
|
|
|
NM_022114.4(PRDM16):c.2809C>A (p.Pro937Thr)
|
rs374972823
|
|
NM_022114.4(PRDM16):c.2809C>G (p.Pro937Ala)
|
rs374972823
|
|
NM_022114.4(PRDM16):c.2810C>T (p.Pro937Leu)
|
|
|
NM_022114.4(PRDM16):c.2815C>A (p.Leu939Ile)
|
rs150022595
|
|
NM_022114.4(PRDM16):c.2815C>G (p.Leu939Val)
|
rs150022595
|
|
NM_022114.4(PRDM16):c.2817C>T (p.Leu939=)
|
rs1638316744
|
|
NM_022114.4(PRDM16):c.2821G>A (p.Asp941Asn)
|
|
|
NM_022114.4(PRDM16):c.2826C>T (p.Pro942=)
|
|
|
NM_022114.4(PRDM16):c.2835G>T (p.Arg945Ser)
|
rs2100676273
|
|
NM_022114.4(PRDM16):c.2848C>T (p.Arg950Ter)
|
|
|
NM_022114.4(PRDM16):c.2849G>A (p.Arg950Gln)
|
rs755741214
|
|
NM_022114.4(PRDM16):c.2849G>C (p.Arg950Pro)
|
rs755741214
|
|
NM_022114.4(PRDM16):c.284G>T (p.Gly95Val)
|
|
|
NM_022114.4(PRDM16):c.2854A>C (p.Thr952Pro)
|
|
|
NM_022114.4(PRDM16):c.2855C>A (p.Thr952Lys)
|
rs749180764
|
|
NM_022114.4(PRDM16):c.2855C>T (p.Thr952Met)
|
rs749180764
|
|
NM_022114.4(PRDM16):c.2861+11C>G
|
|
|
NM_022114.4(PRDM16):c.2862-10T>A
|
rs1569751849
|
|
NM_022114.4(PRDM16):c.2862-13C>T
|
|
|
NM_022114.4(PRDM16):c.2870G>A (p.Gly957Glu)
|
|
|
NM_022114.4(PRDM16):c.2883C>T (p.Pro961=)
|
|
|
NM_022114.4(PRDM16):c.2885G>C (p.Arg962Thr)
|
|
|
NM_022114.4(PRDM16):c.288G>A (p.Leu96=)
|
rs752047886
|
|
NM_022114.4(PRDM16):c.2894A>G (p.Asn965Ser)
|
rs2100677668
|
|
NM_022114.4(PRDM16):c.28C>T (p.Leu10=)
|
rs770141414
|
|
NM_022114.4(PRDM16):c.2905C>T (p.His969Tyr)
|
rs1638341252
|
|
NM_022114.4(PRDM16):c.2922T>G (p.Thr974=)
|
|
|
NM_022114.4(PRDM16):c.2931G>A (p.Gln977=)
|
|
|
NM_022114.4(PRDM16):c.2939+11C>T
|
|
|
NM_022114.4(PRDM16):c.2939+12G>A
|
|
|
NM_022114.4(PRDM16):c.2939+14G>C
|
|
|
NM_022114.4(PRDM16):c.2940-12T>C
|
|
|
NM_022114.4(PRDM16):c.2940-13G>C
|
rs2100692247
|
|
NM_022114.4(PRDM16):c.2940-16C>A
|
rs374845861
|
|
NM_022114.4(PRDM16):c.2940-3C>T
|
|
|
NM_022114.4(PRDM16):c.2970C>T (p.Ile990=)
|
rs1638581994
|
|
NM_022114.4(PRDM16):c.2975C>T (p.Ser992Leu)
|
|
|
NM_022114.4(PRDM16):c.2976G>C (p.Ser992=)
|
|
|
NM_022114.4(PRDM16):c.2982C>T (p.Leu994=)
|
|
|
NM_022114.4(PRDM16):c.2987G>A (p.Arg996Gln)
|
|
|
NM_022114.4(PRDM16):c.2996G>A (p.Arg999Gln)
|
|
|
NM_022114.4(PRDM16):c.3012G>T (p.Lys1004Asn)
|
rs2100692336
|
|
NM_022114.4(PRDM16):c.3024C>T (p.Phe1008=)
|
rs538095343
|
|
NM_022114.4(PRDM16):c.3026A>G (p.Lys1009Arg)
|
rs755243341
|
|
NM_022114.4(PRDM16):c.3027G>A (p.Lys1009=)
|
|
|
NM_022114.4(PRDM16):c.3063C>T (p.Thr1021=)
|
rs1638583619
|
|
NM_022114.4(PRDM16):c.3068T>G (p.Leu1023Arg)
|
rs1638583779
|
|
NM_022114.4(PRDM16):c.3078C>T (p.His1026=)
|
|
|
NM_022114.4(PRDM16):c.3096C>T (p.His1032=)
|
|
|
NM_022114.4(PRDM16):c.3103G>T (p.Ala1035Ser)
|
rs765394108
|
|
NM_022114.4(PRDM16):c.3105A>G (p.Ala1035=)
|
rs2100692467
|
|
NM_022114.4(PRDM16):c.3109+12G>A
|
rs200643126
|
|
NM_022114.4(PRDM16):c.3109+12G>C
|
rs200643126
|
|
NM_022114.4(PRDM16):c.3109+15G>T
|
|
|
NM_022114.4(PRDM16):c.3109+1G>C
|
rs2100692478
|
|
NM_022114.4(PRDM16):c.310A>C (p.Met104Leu)
|
|
|
NM_022114.4(PRDM16):c.3110-12G>A
|
|
|
NM_022114.4(PRDM16):c.3110-19T>A
|
|
|
NM_022114.4(PRDM16):c.3110-7T>C
|
rs1553179293
|
|
NM_022114.4(PRDM16):c.3110T>C (p.Val1037Ala)
|
rs961514818
|
|
NM_022114.4(PRDM16):c.3126G>A (p.Gly1042=)
|
|
|
NM_022114.4(PRDM16):c.3137A>G (p.Asn1046Ser)
|
rs976929581
|
|
NM_022114.4(PRDM16):c.3138C>T (p.Asn1046=)
|
rs2100693217
|
|
NM_022114.4(PRDM16):c.3141C>A (p.His1047Gln)
|
|
|
NM_022114.4(PRDM16):c.3141C>T (p.His1047=)
|
rs754311746
|
|
NM_022114.4(PRDM16):c.3143T>C (p.Leu1048Pro)
|
rs1347443850
|
|
NM_022114.4(PRDM16):c.3150C>G (p.Thr1050=)
|
|
|
NM_022114.4(PRDM16):c.3201G>C (p.Glu1067Asp)
|
|
|
NM_022114.4(PRDM16):c.3212C>A (p.Ser1071Tyr)
|
rs751178142
|
|
NM_022114.4(PRDM16):c.3222G>A (p.Ser1074=)
|
rs541306513
|
|
NM_022114.4(PRDM16):c.3240T>C (p.Ile1080=)
|
|
|
NM_022114.4(PRDM16):c.3245A>G (p.Asn1082Ser)
|
|
|
NM_022114.4(PRDM16):c.3253A>G (p.Met1085Val)
|
|
|
NM_022114.4(PRDM16):c.3266C>T (p.Ser1089Leu)
|
rs2100693452
|
|
NM_022114.4(PRDM16):c.3280A>G (p.Lys1094Glu)
|
|
|
NM_022114.4(PRDM16):c.3284+15G>A
|
|
|
NM_022114.4(PRDM16):c.3284+17G>C
|
rs376268478
|
|
NM_022114.4(PRDM16):c.3285-15_3285-13del
|
|
|
NM_022114.4(PRDM16):c.3285-20C>A
|
|
|
NM_022114.4(PRDM16):c.3293T>C (p.Met1098Thr)
|
rs1319675512
|
|
NM_022114.4(PRDM16):c.3313G>A (p.Ala1105Thr)
|
|
|
NM_022114.4(PRDM16):c.3326G>A (p.Gly1109Asp)
|
|
|
NM_022114.4(PRDM16):c.3348G>C (p.Glu1116Asp)
|
|
|
NM_022114.4(PRDM16):c.3354GGA[3] (p.Glu1121del)
|
rs779426991
|
|
NM_022114.4(PRDM16):c.3354GGA[5] (p.Glu1121_Asp1122insGlu)
|
|
|
NM_022114.4(PRDM16):c.3361G>A (p.Glu1121Lys)
|
|
|
NM_022114.4(PRDM16):c.3363G>A (p.Glu1121=)
|
rs749724757
|
|
NM_022114.4(PRDM16):c.3363_3386del (p.Glu1121_Glu1128del)
|
|
|
NM_022114.4(PRDM16):c.3365A>G (p.Asp1122Gly)
|
rs1197356969
|
|
NM_022114.4(PRDM16):c.3366C>G (p.Asp1122Glu)
|
rs370195954
|
|
NM_022114.4(PRDM16):c.3366CGA[3] (p.Asp1125dup)
|
rs758774731
|
|
NM_022114.4(PRDM16):c.3369_3389del (p.Asp1124_Asp1130del)
|
rs753254261
|
|
NM_022114.4(PRDM16):c.3375_3392del (p.Asp1125_Asp1130del)
|
rs1553180122
|
|
NM_022114.4(PRDM16):c.3379G>A (p.Glu1127Lys)
|
rs746661891
|
|
NM_022114.4(PRDM16):c.3393G>A (p.Glu1131=)
|
rs2100702079
|
|
NM_022114.4(PRDM16):c.339C>T (p.Cys113=)
|
|
|
NM_022114.4(PRDM16):c.3413C>T (p.Ser1138Leu)
|
|
|
NM_022114.4(PRDM16):c.3414G>A (p.Ser1138=)
|
rs762994553
|
|
NM_022114.4(PRDM16):c.3424A>G (p.Thr1142Ala)
|
rs1553180139
|
|
NM_022114.4(PRDM16):c.3426C>T (p.Thr1142=)
|
|
|
NM_022114.4(PRDM16):c.3435C>T (p.Pro1145=)
|
|
|
NM_022114.4(PRDM16):c.3441C>T (p.Pro1147=)
|
|
|
NM_022114.4(PRDM16):c.3471G>A (p.Glu1157=)
|
rs1638752992
|
|
NM_022114.4(PRDM16):c.3475GAG[1] (p.Glu1160del)
|
rs747338094
|
|
NM_022114.4(PRDM16):c.3486C>T (p.Ala1162=)
|
|
|
NM_022114.4(PRDM16):c.3487G>A (p.Ala1163Thr)
|
rs747460948
|
|
NM_022114.4(PRDM16):c.3491C>T (p.Ser1164Phe)
|
rs2100702296
|
|
NM_022114.4(PRDM16):c.3501G>A (p.Val1167=)
|
|
|
NM_022114.4(PRDM16):c.3518G>A (p.Arg1173Gln)
|
|
|
NM_022114.4(PRDM16):c.3521+13G>A
|
|
|
NM_022114.4(PRDM16):c.3522-14G>A
|
|
|
NM_022114.4(PRDM16):c.3522-20C>G
|
|
|
NM_022114.4(PRDM16):c.3522-5T>C
|
|
|
NM_022114.4(PRDM16):c.3522G>A (p.Arg1174=)
|
|
|
NM_022114.4(PRDM16):c.3524G>A (p.Cys1175Tyr)
|
|
|
NM_022114.4(PRDM16):c.352C>T (p.Arg118Trp)
|
|
|
NM_022114.4(PRDM16):c.3534C>T (p.Asp1178=)
|
|
|
NM_022114.4(PRDM16):c.3536A>G (p.His1179Arg)
|
|
|
NM_022114.4(PRDM16):c.3542G>T (p.Gly1181Val)
|
rs1638781354
|
|
NM_022114.4(PRDM16):c.3563C>A (p.Pro1188Gln)
|
rs572604983
|
|
NM_022114.4(PRDM16):c.3578G>A (p.Gly1193Glu)
|
rs1638782306
|
|
NM_022114.4(PRDM16):c.3590A>G (p.Asp1197Gly)
|
rs1426727129
|
|
NM_022114.4(PRDM16):c.3616T>C (p.Phe1206Leu)
|
|
|
NM_022114.4(PRDM16):c.3622G>T (p.Val1208Phe)
|
|
|
NM_022114.4(PRDM16):c.3623T>C (p.Val1208Ala)
|
|
|
NM_022114.4(PRDM16):c.3627_3629del (p.Lys1209_Asp1210delinsAsn)
|
rs1290106818
|
|
NM_022114.4(PRDM16):c.3659C>G (p.Ala1220Gly)
|
|
|
NM_022114.4(PRDM16):c.3676T>C (p.Cys1226Arg)
|
|
|
NM_022114.4(PRDM16):c.3680G>A (p.Arg1227Lys)
|
|
|
NM_022114.4(PRDM16):c.3696+16A>T
|
|
|
NM_022114.4(PRDM16):c.3696+3A>G
|
|
|
NM_022114.4(PRDM16):c.3696+7A>G
|
rs746946590
|
|
NM_022114.4(PRDM16):c.3697-17C>T
|
rs752429526
|
|
NM_022114.4(PRDM16):c.3697-2A>G
|
|
|
NM_022114.4(PRDM16):c.3697-5G>C
|
|
|
NM_022114.4(PRDM16):c.3699A>G (p.Ala1233=)
|
|
|
NM_022114.4(PRDM16):c.37+23_37+55del
|
|
|
NM_022114.4(PRDM16):c.3703G>A (p.Ala1235Thr)
|
|
|
NM_022114.4(PRDM16):c.3714G>A (p.Leu1238=)
|
rs1427967709
|
|
NM_022114.4(PRDM16):c.3743C>A (p.Thr1248Asn)
|
rs759077270
|
|
NM_022114.4(PRDM16):c.3746C>G (p.Pro1249Arg)
|
rs764863295
|
|
NM_022114.4(PRDM16):c.3748T>A (p.Ser1250Thr)
|
rs1553180663
|
|
NM_022114.4(PRDM16):c.3766G>T (p.Ala1256Ser)
|
rs750388478
|
|
NM_022114.4(PRDM16):c.3789C>G (p.Ala1263=)
|
|
|
NM_022114.4(PRDM16):c.3791C>T (p.Thr1264Met)
|
|
|
NM_022114.4(PRDM16):c.38-19G>A
|
|
|
NM_022114.4(PRDM16):c.38-20C>A
|
rs190568539
|
|
NM_022114.4(PRDM16):c.38-20C>T
|
rs190568539
|
|
NM_022114.4(PRDM16):c.3812A>G (p.His1271Arg)
|
rs1638837669
|
|
NM_022114.4(PRDM16):c.387+10C>T
|
rs190880470
|
|
NM_022114.4(PRDM16):c.387+13G>A
|
|
|
NM_022114.4(PRDM16):c.387+3G>A
|
rs2100798319
|
|
NM_022114.4(PRDM16):c.387+6C>A
|
rs369010644
|
|
NM_022114.4(PRDM16):c.387+7G>A
|
|
|
NM_022114.4(PRDM16):c.388-18C>T
|
|
|
NM_022114.4(PRDM16):c.388-20C>T
|
rs1287323909
|
|
NM_022114.4(PRDM16):c.388-2A>G
|
|
|
NM_022114.4(PRDM16):c.388-8T>C
|
rs2100913261
|
|
NM_022114.4(PRDM16):c.390A>G (p.Gln130=)
|
rs1191137350
|
|
NM_022114.4(PRDM16):c.395T>C (p.Leu132Pro)
|
rs1639733506
|
|
NM_022114.4(PRDM16):c.39T>C (p.Ser13=)
|
rs1373869540
|
|
NM_022114.4(PRDM16):c.409G>A (p.Val137Met)
|
|
|
NM_022114.4(PRDM16):c.410T>A (p.Val137Glu)
|
rs1161500379
|
|
NM_022114.4(PRDM16):c.414G>A (p.Ser138=)
|
|
|
NM_022114.4(PRDM16):c.416C>A (p.Pro139His)
|
|
|
NM_022114.4(PRDM16):c.431T>A (p.Ile144Asn)
|
rs757284038
|
|
NM_022114.4(PRDM16):c.438+12C>T
|
|
|
NM_022114.4(PRDM16):c.438+13G>A
|
rs749399829
|
|
NM_022114.4(PRDM16):c.438+16C>T
|
|
|
NM_022114.4(PRDM16):c.438+19C>G
|
rs369171650
|
|
NM_022114.4(PRDM16):c.438+19C>T
|
rs369171650
|
|
NM_022114.4(PRDM16):c.438+20G>A
|
|
|
NM_022114.4(PRDM16):c.438+7G>T
|
rs1198596075
|
|
NM_022114.4(PRDM16):c.439-4G>T
|
rs1060504136
|
|
NM_022114.4(PRDM16):c.449A>G (p.Asp150Gly)
|
rs2100606154
|
|
NM_022114.4(PRDM16):c.460G>A (p.Glu154Lys)
|
rs2100606163
|
|
NM_022114.4(PRDM16):c.469T>A (p.Cys157Ser)
|
rs2100606178
|
|
NM_022114.4(PRDM16):c.470G>C (p.Cys157Ser)
|
rs1306661340
|
|
NM_022114.4(PRDM16):c.481A>C (p.Asn161His)
|
|
|
NM_022114.4(PRDM16):c.481A>T (p.Asn161Tyr)
|
rs374664141
|
|
NM_022114.4(PRDM16):c.48C>T (p.Asp16=)
|
rs755458264
|
|
NM_022114.4(PRDM16):c.493G>T (p.Ala165Ser)
|
rs561382082
|
|
NM_022114.4(PRDM16):c.497G>A (p.Gly166Asp)
|
|
|
NM_022114.4(PRDM16):c.49G>T (p.Val17Phe)
|
rs183153140
|
|
NM_022114.4(PRDM16):c.516C>G (p.Ile172Met)
|
|
|
NM_022114.4(PRDM16):c.51_53del (p.Val18del)
|
rs752491979
|
|
NM_022114.4(PRDM16):c.523G>A (p.Ala175Thr)
|
|
|
NM_022114.4(PRDM16):c.525G>A (p.Ala175=)
|
rs761677255
|
|
NM_022114.4(PRDM16):c.525G>C (p.Ala175=)
|
rs761677255
|
|
NM_022114.4(PRDM16):c.532T>C (p.Cys178Arg)
|
|
|
NM_022114.4(PRDM16):c.535G>A (p.Asp179Asn)
|
rs929298724
|
|
NM_022114.4(PRDM16):c.538G>T (p.Asp180Tyr)
|
|
|
NM_022114.4(PRDM16):c.573+10G>A
|
|
|
NM_022114.4(PRDM16):c.573+11G>A
|
|
|
NM_022114.4(PRDM16):c.573+12C>G
|
|
|
NM_022114.4(PRDM16):c.574-20C>G
|
|
|
NM_022114.4(PRDM16):c.574-20_574-17del
|
rs565661633
|
|
NM_022114.4(PRDM16):c.579C>G (p.Tyr193Ter)
|
rs2100630391
|
|
NM_022114.4(PRDM16):c.583A>G (p.Lys195Glu)
|
|
|
NM_022114.4(PRDM16):c.590T>G (p.Ile197Ser)
|
rs2100630398
|
|
NM_022114.4(PRDM16):c.595G>A (p.Asp199Asn)
|
|
|
NM_022114.4(PRDM16):c.5G>A (p.Arg2Gln)
|
rs2100451649
|
|
NM_022114.4(PRDM16):c.639C>T (p.Gly213=)
|
|
|
NM_022114.4(PRDM16):c.646C>T (p.Pro216Ser)
|
|
|
NM_022114.4(PRDM16):c.648C>T (p.Pro216=)
|
|
|
NM_022114.4(PRDM16):c.649dup (p.Leu217fs)
|
rs1643389176
|
|
NM_022114.4(PRDM16):c.658G>A (p.Val220Met)
|
rs746597198
|
|
NM_022114.4(PRDM16):c.663G>A (p.Pro221=)
|
rs780898226
|
|
NM_022114.4(PRDM16):c.663G>T (p.Pro221=)
|
rs780898226
|
|
NM_022114.4(PRDM16):c.676+16C>A
|
|
|
NM_022114.4(PRDM16):c.677-16_677-11dup
|
rs138423019
|
|
NM_022114.4(PRDM16):c.677-17C>T
|
|
|
NM_022114.4(PRDM16):c.677-9C>G
|
|
|
NM_022114.4(PRDM16):c.677-9C>T
|
rs755951322
|
|
NM_022114.4(PRDM16):c.682C>G (p.Pro228Ala)
|
rs1182820916
|
|
NM_022114.4(PRDM16):c.692G>A (p.Arg231His)
|
|
|
NM_022114.4(PRDM16):c.699C>T (p.Asp233=)
|
|
|
NM_022114.4(PRDM16):c.700G>T (p.Glu234Ter)
|
|
|
NM_022114.4(PRDM16):c.707A>T (p.Asp236Val)
|
|
|
NM_022114.4(PRDM16):c.708C>T (p.Asp236=)
|
|
|
NM_022114.4(PRDM16):c.709G>A (p.Glu237Lys)
|
rs764674939
|
|
NM_022114.4(PRDM16):c.720G>T (p.Gln240His)
|
|
|
NM_022114.4(PRDM16):c.72C>T (p.Pro24=)
|
|
|
NM_022114.4(PRDM16):c.753C>T (p.Tyr251=)
|
|
|
NM_022114.4(PRDM16):c.769G>C (p.Gly257Arg)
|
|
|
NM_022114.4(PRDM16):c.771G>A (p.Gly257=)
|
|
|
NM_022114.4(PRDM16):c.778C>T (p.Leu260Phe)
|
rs762328436
|
|
NM_022114.4(PRDM16):c.784G>A (p.Glu262Lys)
|
|
|
NM_022114.4(PRDM16):c.793G>T (p.Ala265Ser)
|
rs1553174330
|
|
NM_022114.4(PRDM16):c.794C>T (p.Ala265Val)
|
rs2100642494
|
|
NM_022114.4(PRDM16):c.810C>G (p.Pro270=)
|
rs753567065
|
|
NM_022114.4(PRDM16):c.811_841del (p.Glu271fs)
|
rs2100642510
|
|
NM_022114.4(PRDM16):c.816C>T (p.Gly272=)
|
rs2100642536
|
|
NM_022114.4(PRDM16):c.817C>T (p.Leu273Phe)
|
|
|
NM_022114.4(PRDM16):c.833G>T (p.Gly278Val)
|
|
|
NM_022114.4(PRDM16):c.843C>G (p.His281Gln)
|
rs201199516
|
|
NM_022114.4(PRDM16):c.863G>C (p.Arg288Pro)
|
rs141374404
|
|
NM_022114.4(PRDM16):c.876C>T (p.Asn292=)
|
rs1553174363
|
|
NM_022114.4(PRDM16):c.880T>C (p.Tyr294His)
|
rs2100642694
|
|
NM_022114.4(PRDM16):c.884+15T>C
|
rs2100642752
|
|
NM_022114.4(PRDM16):c.884+16_884+17del
|
|
|
NM_022114.4(PRDM16):c.884+33_884+94del
|
rs1557654935
|
|
NM_022114.4(PRDM16):c.884+33_884+94dup
|
|
|
NM_022114.4(PRDM16):c.884G>A (p.Ser295Asn)
|
|
|
NM_022114.4(PRDM16):c.885-14C>T
|
|
|
NM_022114.4(PRDM16):c.885-15T>C
|
rs2100646015
|
|
NM_022114.4(PRDM16):c.885-8C>T
|
|
|
NM_022114.4(PRDM16):c.885C>T (p.Ser295=)
|
|
|
NM_022114.4(PRDM16):c.904A>G (p.Ile302Val)
|
rs1553174650
|
|
NM_022114.4(PRDM16):c.912G>C (p.Thr304=)
|
|
|
NM_022114.4(PRDM16):c.91A>G (p.Ser31Gly)
|
rs1569798407
|
|
NM_022114.4(PRDM16):c.920G>A (p.Arg307His)
|
|
|
NM_022114.4(PRDM16):c.921C>T (p.Arg307=)
|
rs767412035
|
|
NM_022114.4(PRDM16):c.922G>A (p.Glu308Lys)
|
rs1643531752
|
|
NM_022114.4(PRDM16):c.930A>G (p.Lys310=)
|
|
|
NM_022114.4(PRDM16):c.931T>C (p.Cys311Arg)
|
|
|
NM_022114.4(PRDM16):c.934G>T (p.Asp312Tyr)
|
rs191798831
|
|
NM_022114.4(PRDM16):c.93C>G (p.Ser31Arg)
|
rs750535149
|
|
NM_022114.4(PRDM16):c.966del (p.Asn323fs)
|
|
|
NM_022114.4(PRDM16):c.994G>T (p.Asp332Tyr)
|
rs372445366
|
|
NM_022114.4(PRDM16):c.997A>G (p.Ser333Gly)
|
|
|
NM_022114.4(PRDM16):c.99C>T (p.Ser33=)
|
|
|
NM_033337.3(CAV3):c.103G>C (p.Asp35His)
|
|
|
NM_033337.3(CAV3):c.10_17del (p.Glu4fs)
|
rs778914298
|
|
NM_033337.3(CAV3):c.110T>C (p.Val37Ala)
|
rs886039060
|
|
NM_033337.3(CAV3):c.114+16C>T
|
|
|
NM_033337.3(CAV3):c.114+2T>C
|
rs116840787
|
|
NM_033337.3(CAV3):c.114+3A>G
|
|
|
NM_033337.3(CAV3):c.114+5G>C
|
rs1354029651
|
|
NM_033337.3(CAV3):c.114+8C>G
|
rs987275270
|
|
NM_033337.3(CAV3):c.115-17C>T
|
rs2124988175
|
|
NM_033337.3(CAV3):c.115-2A>T
|
rs143346209
|
|
NM_033337.3(CAV3):c.115-4G>C
|
|
|
NM_033337.3(CAV3):c.115-6C>T
|
rs1575477387
|
|
NM_033337.3(CAV3):c.115-8C>T
|
rs1473004678
|
|
NM_033337.3(CAV3):c.123_124inv (p.Glu42Lys)
|
|
|
NM_033337.3(CAV3):c.128A>T (p.Asp43Val)
|
rs1559654264
|
|
NM_033337.3(CAV3):c.130G>A (p.Val44Met)
|
rs1341523879
|
|
NM_033337.3(CAV3):c.131T>C (p.Val44Ala)
|
rs116840788
|
|
NM_033337.3(CAV3):c.132G>A (p.Val44=)
|
rs372754279
|
|
NM_033337.3(CAV3):c.133A>G (p.Ile45Val)
|
rs1708128320
|
|
NM_033337.3(CAV3):c.135C>A (p.Ile45=)
|
|
|
NM_033337.3(CAV3):c.136G>A (p.Ala46Thr)
|
rs116840789
|
|
NM_033337.3(CAV3):c.140A>G (p.Glu47Gly)
|
|
|
NM_033337.3(CAV3):c.146T>C (p.Val49Ala)
|
|
|
NM_033337.3(CAV3):c.152C>T (p.Thr51Ile)
|
rs1708129603
|
|
NM_033337.3(CAV3):c.157A>C (p.Ser53Arg)
|
|
|
NM_033337.3(CAV3):c.159C>G (p.Ser53Arg)
|
rs1708129927
|
|
NM_033337.3(CAV3):c.160T>G (p.Phe54Val)
|
rs730880419
|
|
NM_033337.3(CAV3):c.163G>A (p.Asp55Asn)
|
|
|
NM_033337.3(CAV3):c.165C>A (p.Asp55Glu)
|
rs759446749
|
|
NM_033337.3(CAV3):c.165C>G (p.Asp55Glu)
|
rs759446749
|
|
NM_033337.3(CAV3):c.168C>A (p.Gly56=)
|
rs116840774
|
|
NM_033337.3(CAV3):c.172T>G (p.Trp58Gly)
|
rs199476330
|
|
NM_033337.3(CAV3):c.177G>A (p.Lys59=)
|
rs1708131659
|
|
NM_033337.3(CAV3):c.177G>C (p.Lys59Asn)
|
rs1708131659
|
|
NM_033337.3(CAV3):c.17A>T (p.His6Leu)
|
rs1233979640
|
|
NM_033337.3(CAV3):c.182G>A (p.Ser61Asn)
|
rs1060502315
|
|
NM_033337.3(CAV3):c.183C>T (p.Ser61=)
|
rs116840796
|
|
NM_033337.3(CAV3):c.184T>C (p.Tyr62His)
|
rs2124988355
|
|
NM_033337.3(CAV3):c.188C>T (p.Thr63Ile)
|
rs116840799
|
|
NM_033337.3(CAV3):c.191C>A (p.Thr64Asn)
|
|
|
NM_033337.3(CAV3):c.192C>A (p.Thr64=)
|
rs1060504548
|
|
NM_033337.3(CAV3):c.194T>C (p.Phe65Ser)
|
rs1708132892
|
|
NM_033337.3(CAV3):c.196_197insTT (p.Thr66fs)
|
|
|
NM_033337.3(CAV3):c.199G>A (p.Val67Ile)
|
rs2124988383
|
|
NM_033337.3(CAV3):c.19A>G (p.Thr7Ala)
|
|
|
NM_033337.3(CAV3):c.201C>T (p.Val67=)
|
rs201593267
|
|
NM_033337.3(CAV3):c.215G>A (p.Cys72Tyr)
|
|
|
NM_033337.3(CAV3):c.220C>G (p.Arg74Gly)
|
rs780407324
|
|
NM_033337.3(CAV3):c.226T>C (p.Leu76=)
|
|
|
NM_033337.3(CAV3):c.230C>T (p.Ser77Phe)
|
rs1575477670
|
|
NM_033337.3(CAV3):c.231C>G (p.Ser77=)
|
rs1256028341
|
|
NM_033337.3(CAV3):c.231C>T (p.Ser77=)
|
rs1256028341
|
|
NM_033337.3(CAV3):c.246C>G (p.Val82=)
|
|
|
NM_033337.3(CAV3):c.250C>G (p.Leu84Val)
|
|
|
NM_033337.3(CAV3):c.254C>A (p.Ala85Asp)
|
rs1553614440
|
|
NM_033337.3(CAV3):c.254C>T (p.Ala85Val)
|
rs1553614440
|
|
NM_033337.3(CAV3):c.257T>A (p.Leu86Gln)
|
rs116840801
|
|
NM_033337.3(CAV3):c.263G>A (p.Trp88Ter)
|
|
|
NM_033337.3(CAV3):c.266G>A (p.Gly89Asp)
|
rs1575477762
|
|
NM_033337.3(CAV3):c.266G>T (p.Gly89Val)
|
rs1575477762
|
|
NM_033337.3(CAV3):c.272T>C (p.Leu91Pro)
|
rs1708137672
|
|
NM_033337.3(CAV3):c.277G>A (p.Ala93Thr)
|
rs28936686
|
|
NM_033337.3(CAV3):c.277G>T (p.Ala93Ser)
|
rs28936686
|
|
NM_033337.3(CAV3):c.279C>T (p.Ala93=)
|
rs2124988568
|
|
NM_033337.3(CAV3):c.27C>G (p.Leu9=)
|
rs1974763
|
|
NM_033337.3(CAV3):c.281G>C (p.Cys94Ser)
|
rs1708138255
|
|
NM_033337.3(CAV3):c.294C>A (p.Cys98Ter)
|
rs200202503
|
|
NM_033337.3(CAV3):c.297C>T (p.His99=)
|
rs377495315
|
|
NM_033337.3(CAV3):c.301T>C (p.Trp101Arg)
|
rs199476337
|
|
NM_033337.3(CAV3):c.303G>C (p.Trp101Cys)
|
rs886039325
|
|
NM_033337.3(CAV3):c.312G>A (p.Val104=)
|
rs794727305
|
|
NM_033337.3(CAV3):c.315del (p.Cys106fs)
|
rs1708140090
|
|
NM_033337.3(CAV3):c.320T>C (p.Ile107Thr)
|
|
|
NM_033337.3(CAV3):c.32C>T (p.Ala11Val)
|
rs867194464
|
|
NM_033337.3(CAV3):c.330C>A (p.Tyr110Ter)
|
rs2124988641
|
|
NM_033337.3(CAV3):c.335T>C (p.Ile112Thr)
|
rs2124988654
|
|
NM_033337.3(CAV3):c.337G>A (p.Glu113Lys)
|
rs921802744
|
|
NM_033337.3(CAV3):c.337_345dup (p.Glu113_Gln115dup)
|
rs1553614446
|
|
NM_033337.3(CAV3):c.339G>A (p.Glu113=)
|
rs2124988662
|
|
NM_033337.3(CAV3):c.342C>T (p.Ile114=)
|
|
|
NM_033337.3(CAV3):c.357C>T (p.His119=)
|
|
|
NM_033337.3(CAV3):c.35A>G (p.Gln12Arg)
|
rs1707652057
|
|
NM_033337.3(CAV3):c.368T>C (p.Leu123Pro)
|
|
|
NM_033337.3(CAV3):c.36G>T (p.Gln12His)
|
rs1553613127
|
|
NM_033337.3(CAV3):c.372C>T (p.Cys124=)
|
rs894963662
|
|
NM_033337.3(CAV3):c.380C>A (p.Thr127Asn)
|
rs878854385
|
|
NM_033337.3(CAV3):c.380C>T (p.Thr127Ile)
|
rs878854385
|
|
NM_033337.3(CAV3):c.396C>G (p.Leu132=)
|
|
|
NM_033337.3(CAV3):c.396C>T (p.Leu132=)
|
|
|
NM_033337.3(CAV3):c.399C>G (p.Phe133Leu)
|
|
|
NM_033337.3(CAV3):c.399C>T (p.Phe133=)
|
rs769859957
|
|
NM_033337.3(CAV3):c.400G>A (p.Ala134Thr)
|
rs773309037
|
|
NM_033337.3(CAV3):c.401C>A (p.Ala134Glu)
|
|
|
NM_033337.3(CAV3):c.402G>A (p.Ala134=)
|
rs559206877
|
|
NM_033337.3(CAV3):c.402G>C (p.Ala134=)
|
rs559206877
|
|
NM_033337.3(CAV3):c.402G>T (p.Ala134=)
|
|
|
NM_033337.3(CAV3):c.406C>T (p.Leu136=)
|
rs2124988765
|
|
NM_033337.3(CAV3):c.408G>A (p.Leu136=)
|
|
|
NM_033337.3(CAV3):c.418T>G (p.Cys140Gly)
|
|
|
NM_033337.3(CAV3):c.419G>A (p.Cys140Tyr)
|
|
|
NM_033337.3(CAV3):c.423C>T (p.Ser141=)
|
rs104893713
|
|
NM_033337.3(CAV3):c.424A>G (p.Ser142Gly)
|
rs1708143412
|
|
NM_033337.3(CAV3):c.427A>T (p.Ile143Phe)
|
|
|
NM_033337.3(CAV3):c.429C>A (p.Ile143=)
|
rs750004840
|
|
NM_033337.3(CAV3):c.454del (p.Ter152LysextTer?)
|
rs1575478107
|
|
NM_033337.3(CAV3):c.455A>G (p.Ter152=)
|
rs748075760
|
|
NM_033337.3(CAV3):c.46G>A (p.Asp16Asn)
|
rs1707652520
|
|
NM_033337.3(CAV3):c.50T>C (p.Ile17Thr)
|
|
|
NM_033337.3(CAV3):c.53A>G (p.His18Arg)
|
rs730880424
|
|
NM_033337.3(CAV3):c.54C>T (p.His18=)
|
rs775054657
|
|
NM_033337.3(CAV3):c.57C>A (p.Cys19Ter)
|
rs1182984115
|
|
NM_033337.3(CAV3):c.58A>C (p.Lys20Gln)
|
|
|
NM_033337.3(CAV3):c.58A>G (p.Lys20Glu)
|
rs1707653132
|
|
NM_033337.3(CAV3):c.5T>C (p.Met2Thr)
|
rs375301072
|
|
NM_033337.3(CAV3):c.63G>A (p.Glu21=)
|
rs1417709772
|
|
NM_033337.3(CAV3):c.71T>C (p.Leu24Pro)
|
rs1707653769
|
|
NM_033337.3(CAV3):c.79C>G (p.Arg27Gly)
|
rs199476324
|
|
NM_033337.3(CAV3):c.79C>T (p.Arg27Ter)
|
rs199476324
|
|
NM_033337.3(CAV3):c.7G>A (p.Ala3Thr)
|
rs1291499448
|
|
NM_033337.3(CAV3):c.80G>C (p.Arg27Pro)
|
rs116840778
|
|
NM_033337.3(CAV3):c.85C>T (p.Pro29Ser)
|
rs116840785
|
|
NM_033337.3(CAV3):c.86C>A (p.Pro29His)
|
rs116840786
|
|
NM_033337.3(CAV3):c.86C>T (p.Pro29Leu)
|
rs116840786
|
|
NM_033337.3(CAV3):c.99C>A (p.Asn33Lys)
|
rs1008642
|
|
NM_033337.3(CAV3):c.99C>G (p.Asn33Lys)
|
rs1008642
|
|
NM_033337.3(CAV3):c.99_102delinsT (p.Glu34del)
|
rs1559640153
|
|
NM_033337.3(CAV3):c.9A>G (p.Ala3=)
|
rs2124977096
|
|
NM_145020.5(CFAP53):c.1004_1008del (p.Met335fs)
|
|
|
NM_145020.5(CFAP53):c.1024T>C (p.Tyr342His)
|
|
|
NM_145020.5(CFAP53):c.1033T>C (p.Tyr345His)
|
rs2033707564
|
|
NM_145020.5(CFAP53):c.111A>T (p.Leu37=)
|
|
|
NM_145020.5(CFAP53):c.117A>G (p.Arg39=)
|
|
|
NM_145020.5(CFAP53):c.1183T>G (p.Cys395Gly)
|
rs771723710
|
|
NM_145020.5(CFAP53):c.1213+17C>A
|
|
|
NM_145020.5(CFAP53):c.121C>G (p.Arg41Gly)
|
rs375801610
|
|
NM_145020.5(CFAP53):c.1316+20A>G
|
|
|
NM_145020.5(CFAP53):c.146C>T (p.Ala49Val)
|
|
|
NM_145020.5(CFAP53):c.1513C>A (p.Arg505Ser)
|
|
|
NM_145020.5(CFAP53):c.1513C>T (p.Arg505Cys)
|
rs192619553
|
|
NM_145020.5(CFAP53):c.1514G>A (p.Arg505His)
|
rs766960984
|
|
NM_145020.5(CFAP53):c.1521A>G (p.Ala507=)
|
|
|
NM_145020.5(CFAP53):c.1541C>A (p.Pro514Gln)
|
rs199779499
|
|
NM_145020.5(CFAP53):c.20G>T (p.Gly7Val)
|
|
|
NM_145020.5(CFAP53):c.235G>C (p.Val79Leu)
|
|
|
NM_145020.5(CFAP53):c.300-4T>A
|
rs2144435745
|
|
NM_145020.5(CFAP53):c.413A>C (p.Lys138Thr)
|
rs2144435422
|
|
NM_145020.5(CFAP53):c.474-6T>C
|
|
|
NM_145020.5(CFAP53):c.698G>A (p.Gly233Glu)
|
|
|
NM_145020.5(CFAP53):c.781A>G (p.Ser261Gly)
|
rs2033793556
|
|
NM_145020.5(CFAP53):c.843G>A (p.Lys281=)
|
|
|
NM_145020.5(CFAP53):c.915C>T (p.Asp305=)
|
|
|
NM_145020.5(CFAP53):c.957A>G (p.Gln319=)
|
|
|
NM_145020.5(CFAP53):c.993A>G (p.Lys331=)
|
|
|
NM_145054.5(CFAP52):c.1025+19C>A
|
|
|
NM_145054.5(CFAP52):c.1155C>T (p.Asp385=)
|
|
|
NM_145054.5(CFAP52):c.1404G>T (p.Arg468Ser)
|
rs775063335
|
|
NM_145054.5(CFAP52):c.1419C>T (p.Asn473=)
|
|
|
NM_145054.5(CFAP52):c.1442C>G (p.Thr481Ser)
|
rs142289033
|
|
NM_145054.5(CFAP52):c.1625G>A (p.Gly542Asp)
|
rs552119987
|
|
NM_145054.5(CFAP52):c.1752G>A (p.Val584=)
|
rs1555545305
|
|
NM_145054.5(CFAP52):c.189delinsAGCA (p.His63delinsGlnAla)
|
rs1597763121
|
|
NM_145054.5(CFAP52):c.482C>A (p.Ala161Asp)
|
rs147354190
|
|
NM_145054.5(CFAP52):c.537-7del
|
rs57409272
|
|
NM_145054.5(CFAP52):c.537-7dup
|
|
|
NM_145054.5(CFAP52):c.636+12_636+16del
|
|
|
NM_145054.5(CFAP52):c.771G>T (p.Arg257Ser)
|
rs1389914976
|
|
NM_145054.5(CFAP52):c.854+10G>T
|
|
|
NM_172057.2(KCNH2):c.2078_2080dup (p.Arg693_Pro694insArg)
|
rs1060499872
|
|
NM_172201.2(KCNE2):c.*11A>C
|
rs558860396
|
|
NM_172201.2(KCNE2):c.116C>G (p.Ala39Gly)
|
|
|
NM_172201.2(KCNE2):c.119A>C (p.Lys40Thr)
|
|
|
NM_172201.2(KCNE2):c.122T>C (p.Val41Ala)
|
rs1273269997
|
|
NM_172201.2(KCNE2):c.13T>C (p.Ser5Pro)
|
rs2123423458
|
|
NM_172201.2(KCNE2):c.141C>T (p.Tyr47=)
|
|
|
NM_172201.2(KCNE2):c.163_165dup (p.Val55_Met56insVal)
|
|
|
NM_172201.2(KCNE2):c.183T>G (p.Ser61=)
|
|
|
NM_172201.2(KCNE2):c.190A>G (p.Ile64Val)
|
rs1555837082
|
|
NM_172201.2(KCNE2):c.193G>A (p.Val65Met)
|
rs199473364
|
|
NM_172201.2(KCNE2):c.193G>C (p.Val65Leu)
|
rs199473364
|
|
NM_172201.2(KCNE2):c.195G>T (p.Val65=)
|
|
|
NM_172201.2(KCNE2):c.197C>T (p.Ala66Val)
|
rs16991656
|
|
NM_172201.2(KCNE2):c.221C>A (p.Ser74Tyr)
|
rs1979545359
|
|
NM_172201.2(KCNE2):c.236A>G (p.His79Arg)
|
|
|
NM_172201.2(KCNE2):c.243T>A (p.Asn81Lys)
|
|
|
NM_172201.2(KCNE2):c.250T>C (p.Tyr84His)
|
rs1011448773
|
|
NM_172201.2(KCNE2):c.26A>T (p.Gln9Leu)
|
|
|
NM_172201.2(KCNE2):c.294C>G (p.Ser98Arg)
|
rs1196937368
|
|
NM_172201.2(KCNE2):c.298A>C (p.Ile100Leu)
|
|
|
NM_172201.2(KCNE2):c.301T>C (p.Leu101=)
|
|
|
NM_172201.2(KCNE2):c.30G>A (p.Thr10=)
|
rs751014874
|
|
NM_172201.2(KCNE2):c.31C>G (p.Leu11Val)
|
|
|
NM_172201.2(KCNE2):c.330C>A (p.Ile110=)
|
|
|
NM_172201.2(KCNE2):c.339C>T (p.Asn113=)
|
rs756380802
|
|
NM_172201.2(KCNE2):c.344G>T (p.Gly115Val)
|
rs1349032678
|
|
NM_172201.2(KCNE2):c.345_346dup (p.Ala116fs)
|
rs2123424300
|
|
NM_172201.2(KCNE2):c.354G>C (p.Gly118=)
|
|
|
NM_172201.2(KCNE2):c.365C>T (p.Ser122Phe)
|
rs1979560748
|
|
NM_172201.2(KCNE2):c.369C>T (p.Pro123=)
|
rs2123424404
|
|
NM_172201.2(KCNE2):c.369dup (p.Ter124LeuextTer?)
|
|
|
NM_172201.2(KCNE2):c.42C>A (p.Val14=)
|
rs2123423554
|
|
NM_172201.2(KCNE2):c.79C>A (p.Arg27Ser)
|
rs74315449
|
|
NM_172201.2(KCNE2):c.86A>T (p.Asn29Ile)
|
|
|
NM_172201.2(KCNE2):c.87C>T (p.Asn29=)
|
rs1427987437
|
|
NM_172201.2(KCNE2):c.89C>T (p.Thr30Ile)
|
rs772975913
|
|
NM_174934.4(SCN4B):c.100T>C (p.Ser34Pro)
|
rs1948155711
|
|
NM_174934.4(SCN4B):c.104T>C (p.Val35Ala)
|
|
|
NM_174934.4(SCN4B):c.112G>A (p.Ala38Thr)
|
rs777894412
|
|
NM_174934.4(SCN4B):c.112G>C (p.Ala38Pro)
|
rs777894412
|
|
NM_174934.4(SCN4B):c.127G>A (p.Ala43Thr)
|
rs886047732
|
|
NM_174934.4(SCN4B):c.133A>C (p.Asn45His)
|
|
|
NM_174934.4(SCN4B):c.156C>G (p.Pro52=)
|
rs1263610504
|
|
NM_174934.4(SCN4B):c.160A>C (p.Thr54Pro)
|
|
|
NM_174934.4(SCN4B):c.171C>A (p.Ser57Arg)
|
rs2135505183
|
|
NM_174934.4(SCN4B):c.200G>A (p.Arg67Gln)
|
|
|
NM_174934.4(SCN4B):c.200G>T (p.Arg67Leu)
|
rs147332112
|
|
NM_174934.4(SCN4B):c.233T>G (p.Ile78Ser)
|
rs1276703232
|
|
NM_174934.4(SCN4B):c.234+1G>A
|
rs1341627207
|
|
NM_174934.4(SCN4B):c.235-20C>T
|
|
|
NM_174934.4(SCN4B):c.241_242delinsTT (p.Glu81Leu)
|
|
|
NM_174934.4(SCN4B):c.264G>T (p.Lys88Asn)
|
|
|
NM_174934.4(SCN4B):c.266C>G (p.Ser89Cys)
|
rs1948135887
|
|
NM_174934.4(SCN4B):c.270C>T (p.Asp90=)
|
|
|
NM_174934.4(SCN4B):c.272C>A (p.Pro91His)
|
rs2135504067
|
|
NM_174934.4(SCN4B):c.282G>A (p.Thr94=)
|
|
|
NM_174934.4(SCN4B):c.286A>G (p.Lys96Glu)
|
rs1246344139
|
|
NM_174934.4(SCN4B):c.291C>T (p.Asp97=)
|
|
|
NM_174934.4(SCN4B):c.294T>C (p.Asp98=)
|
rs2135504024
|
|
NM_174934.4(SCN4B):c.298C>A (p.Arg100Ser)
|
|
|
NM_174934.4(SCN4B):c.299G>C (p.Arg100Pro)
|
rs779514077
|
|
NM_174934.4(SCN4B):c.305C>A (p.Thr102Asn)
|
|
|
NM_174934.4(SCN4B):c.331A>T (p.Met111Leu)
|
|
|
NM_174934.4(SCN4B):c.33G>A (p.Pro11=)
|
rs755861941
|
|
NM_174934.4(SCN4B):c.345C>T (p.Ser115=)
|
|
|
NM_174934.4(SCN4B):c.346del (p.Ile116fs)
|
rs2135503938
|
|
NM_174934.4(SCN4B):c.359A>G (p.Asp120Gly)
|
rs1948133901
|
|
NM_174934.4(SCN4B):c.376A>G (p.Thr126Ala)
|
rs1555097541
|
|
NM_174934.4(SCN4B):c.396T>C (p.His132=)
|
|
|
NM_174934.4(SCN4B):c.397G>A (p.Val133Met)
|
rs772935082
|
|
NM_174934.4(SCN4B):c.411G>A (p.Lys137=)
|
|
|
NM_174934.4(SCN4B):c.42G>T (p.Trp14Cys)
|
|
|
NM_174934.4(SCN4B):c.463+1G>A
|
|
|
NM_174934.4(SCN4B):c.464-14C>T
|
|
|
NM_174934.4(SCN4B):c.475G>C (p.Asp159His)
|
rs1565455142
|
|
NM_174934.4(SCN4B):c.501G>A (p.Leu167=)
|
|
|
NM_174934.4(SCN4B):c.505G>A (p.Val169Ile)
|
|
|
NM_174934.4(SCN4B):c.508G>A (p.Val170Met)
|
|
|
NM_174934.4(SCN4B):c.531CATCCT[1] (p.178IL[1])
|
rs1447414158
|
|
NM_174934.4(SCN4B):c.554A>G (p.Lys185Arg)
|
|
|
NM_174934.4(SCN4B):c.555A>G (p.Lys185=)
|
rs2135501534
|
|
NM_174934.4(SCN4B):c.570C>A (p.Ile190=)
|
|
|
NM_174934.4(SCN4B):c.583C>T (p.Arg195Trp)
|
rs945490950
|
|
NM_174934.4(SCN4B):c.584G>A (p.Arg195Gln)
|
|
|
NM_174934.4(SCN4B):c.589A>G (p.Lys197Glu)
|
rs1230446349
|
|
NM_174934.4(SCN4B):c.594-15T>C
|
|
|
NM_174934.4(SCN4B):c.594-17TC[2]
|
rs745759292
|
|
NM_174934.4(SCN4B):c.594-7T>A
|
|
|
NM_174934.4(SCN4B):c.596A>G (p.Lys199Arg)
|
rs758628437
|
|
NM_174934.4(SCN4B):c.597G>A (p.Lys199=)
|
rs372596382
|
|
NM_174934.4(SCN4B):c.61+14A>G
|
|
|
NM_174934.4(SCN4B):c.61+15G>C
|
|
|
NM_174934.4(SCN4B):c.613T>C (p.Ser205Pro)
|
rs761183228
|
|
NM_174934.4(SCN4B):c.62-15G>C
|
|
|
NM_174934.4(SCN4B):c.62-19G>T
|
|
|
NM_174934.4(SCN4B):c.62-5C>T
|
rs2135505353
|
|
NM_174934.4(SCN4B):c.62-7T>C
|
|
|
NM_174934.4(SCN4B):c.620G>T (p.Gly207Val)
|
|
|
NM_174934.4(SCN4B):c.632C>G (p.Thr211Arg)
|
rs201454653
|
|
NM_174934.4(SCN4B):c.632C>T (p.Thr211Met)
|
rs201454653
|
|
NM_174934.4(SCN4B):c.636_637dup (p.Asn213fs)
|
|
|
NM_174934.4(SCN4B):c.641G>T (p.Gly214Val)
|
|
|
NM_174934.4(SCN4B):c.647C>G (p.Pro216Arg)
|
|
|
NM_174934.4(SCN4B):c.652T>G (p.Ser218Ala)
|
|
|
NM_174934.4(SCN4B):c.661G>C (p.Glu221Gln)
|
|
|
NM_174934.4(SCN4B):c.676del (p.Ser226fs)
|
|
|
NM_174934.4(SCN4B):c.75C>T (p.Leu25=)
|
rs1277058252
|
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NM_174934.4(SCN4B):c.89_94delinsAGCGACACCCTGT (p.Ser30_Glu32delinsTer)
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rs1948156091
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