NM_001267550.2(TTN):c.9359G>A (p.Arg3120Gln)
|
rs72647894
|
0.00404
|
NM_006393.3(NEBL):c.180G>C (p.Lys60Asn)
|
rs41277374
|
0.00382
|
NM_006393.3(NEBL):c.480+3A>G
|
rs71578983
|
0.00336
|
NM_001267550.2(TTN):c.34864G>A (p.Val11622Ile)
|
rs202014478
|
0.00288
|
NM_001365276.2(TNXB):c.1047C>G (p.Gly349=)
|
rs369785145
|
0.00184
|
NM_022437.3(ABCG8):c.1201A>T (p.Thr401Ser)
|
rs144200355
|
0.00179
|
NM_001365276.2(TNXB):c.2030A>G (p.Asp677Gly)
|
rs141190850
|
0.00158
|
NM_000040.3(APOC3):c.55+1G>A
|
rs138326449
|
0.00153
|
NM_001365276.2(TNXB):c.2945C>T (p.Thr982Ile)
|
rs199569974
|
0.00146
|
NM_000235.4(LIPA):c.754A>T (p.Ile252Leu)
|
rs147493628
|
0.00140
|
NM_145046.5(CALR3):c.848C>T (p.Thr283Ile)
|
rs75099211
|
0.00138
|
NM_000483.5(APOC2):c.8C>T (p.Thr3Ile)
|
rs148343756
|
0.00134
|
NM_001267550.2(TTN):c.1137A>G (p.Arg379=)
|
rs55972547
|
0.00129
|
NM_001365276.2(TNXB):c.5833T>C (p.Tyr1945His)
|
rs201412413
|
0.00126
|
NM_001267550.2(TTN):c.32186C>T (p.Thr10729Met)
|
rs115119858
|
0.00125
|
NM_001365276.2(TNXB):c.2170C>T (p.Arg724Cys)
|
rs138771398
|
0.00114
|
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp)
|
rs201043950
|
0.00110
|
NM_022436.3(ABCG5):c.593G>A (p.Arg198Gln)
|
rs141828689
|
0.00109
|
NM_014908.4(DOLK):c.700A>G (p.Met234Val)
|
rs139787271
|
0.00102
|
NM_000152.5(GAA):c.726G>A (p.Ala242=)
|
rs148578399
|
0.00101
|
NM_022437.3(ABCG8):c.712G>A (p.Glu238Lys)
|
rs34754243
|
0.00100
|
NM_021167.5(GATAD1):c.96T>G (p.His32Gln)
|
rs532003876
|
0.00099
|
NM_001267550.2(TTN):c.104251G>C (p.Ala34751Pro)
|
rs185683410
|
0.00096
|
NM_001365276.2(TNXB):c.1355G>A (p.Cys452Tyr)
|
rs375984855
|
0.00096
|
NM_001365276.2(TNXB):c.7750C>T (p.Arg2584Cys)
|
rs201690494
|
0.00096
|
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr)
|
rs72677243
|
0.00094
|
NM_001267550.2(TTN):c.33053G>A (p.Arg11018Gln)
|
rs72650034
|
0.00093
|
NM_000384.3(APOB):c.3712C>A (p.Leu1238Ile)
|
rs72653078
|
0.00091
|
NM_001267550.2(TTN):c.96098G>A (p.Arg32033His)
|
rs200648462
|
0.00090
|
NM_001365276.2(TNXB):c.5488A>C (p.Ser1830Arg)
|
rs200519530
|
0.00088
|
NM_001365276.2(TNXB):c.9523A>T (p.Thr3175Ser)
|
rs202109631
|
0.00085
|
NM_001267550.2(TTN):c.23302G>A (p.Asp7768Asn)
|
rs72648973
|
0.00082
|
NM_001367624.2(ZNF469):c.9676C>A (p.His3226Asn)
|
rs867530230
|
0.00081
|
NM_001232.4(CASQ2):c.730C>T (p.His244Tyr)
|
rs142036299
|
0.00076
|
NM_001365276.2(TNXB):c.2633G>A (p.Gly878Asp)
|
rs201647307
|
0.00076
|
NM_000719.7(CACNA1C):c.6272A>G (p.Asn2091Ser)
|
rs201090446
|
0.00074
|
NM_014908.4(DOLK):c.671A>T (p.Asp224Val)
|
rs17485436
|
0.00074
|
NM_000384.3(APOB):c.4178C>T (p.Ala1393Val)
|
rs143282164
|
0.00073
|
NM_000483.5(APOC2):c.122A>C (p.Lys41Thr)
|
rs120074114
|
0.00071
|
NM_024301.5(FKRP):c.904G>A (p.Gly302Ser)
|
rs762283381
|
0.00071
|
NM_001365276.2(TNXB):c.3488G>A (p.Gly1163Glu)
|
rs185207099
|
0.00067
|
NM_020778.5(ALPK3):c.1015C>T (p.Arg339Cys)
|
rs141449225
|
0.00067
|
NM_017636.4(TRPM4):c.2531G>A (p.Gly844Asp)
|
rs200038418
|
0.00064
|
NM_001267550.2(TTN):c.54710T>C (p.Leu18237Pro)
|
rs201412693
|
0.00063
|
NM_001367624.2(ZNF469):c.11697A>C (p.Arg3899Ser)
|
rs561879014
|
0.00063
|
NM_000235.4(LIPA):c.889A>G (p.Ser297Gly)
|
rs147426329
|
0.00061
|
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp)
|
rs36210422
|
0.00061
|
NM_001365276.2(TNXB):c.10111G>A (p.Val3371Met)
|
rs201155046
|
0.00061
|
NM_001010874.5(TECRL):c.454A>G (p.Thr152Ala)
|
rs143746083
|
0.00058
|
NM_014908.4(DOLK):c.1114T>A (p.Phe372Ile)
|
rs146395561
|
0.00058
|
NM_001365276.2(TNXB):c.10151C>G (p.Ser3384Cys)
|
rs200580526
|
0.00057
|
NM_020778.5(ALPK3):c.2965G>A (p.Gly989Arg)
|
rs115074675
|
0.00056
|
NM_001267550.2(TTN):c.83171T>G (p.Val27724Gly)
|
rs201896662
|
0.00054
|
NM_001365276.2(TNXB):c.1965C>G (p.Asp655Glu)
|
rs372621686
|
0.00054
|
NM_001365276.2(TNXB):c.6367G>A (p.Asp2123Asn)
|
rs201764050
|
0.00054
|
NM_001365276.2(TNXB):c.7802C>T (p.Pro2601Leu)
|
rs575866552
|
0.00053
|
NM_001079802.2(FKTN):c.1159G>A (p.Gly387Arg)
|
rs148975262
|
0.00051
|
NM_001267550.2(TTN):c.93005G>T (p.Ser31002Ile)
|
rs180975448
|
0.00051
|
NM_001367624.2(ZNF469):c.8344C>T (p.His2782Tyr)
|
rs553227769
|
0.00051
|
NM_001365276.2(TNXB):c.9421T>A (p.Ser3141Thr)
|
rs200416489
|
0.00050
|
NM_001267550.2(TTN):c.39466C>A (p.Pro13156Thr)
|
rs72650064
|
0.00049
|
NM_001365276.2(TNXB):c.1927A>G (p.Thr643Ala)
|
rs201703963
|
0.00049
|
NM_001365276.2(TNXB):c.2783C>A (p.Ser928Tyr)
|
rs756778483
|
0.00049
|
NM_002317.7(LOX):c.388T>C (p.Ser130Pro)
|
rs139035462
|
0.00049
|
NM_001105206.3(LAMA4):c.*1C>T
|
rs148811960
|
0.00048
|
NM_003480.4(MFAP5):c.236A>T (p.Asn79Ile)
|
rs139330366
|
0.00048
|
NM_007078.3(LDB3):c.1312A>G (p.Thr438Ala)
|
rs111941389
|
0.00048
|
NM_021167.5(GATAD1):c.604G>A (p.Ala202Thr)
|
rs564747350
|
0.00048
|
NM_001267550.2(TTN):c.55925T>A (p.Leu18642Gln)
|
rs140714512
|
0.00047
|
NM_022436.3(ABCG5):c.235G>A (p.Gly79Arg)
|
rs142125966
|
0.00047
|
NM_001267550.2(TTN):c.18550G>A (p.Ala6184Thr)
|
rs72648947
|
0.00046
|
NM_001267550.2(TTN):c.47767G>A (p.Gly15923Arg)
|
rs371943746
|
0.00046
|
NM_001365276.2(TNXB):c.6428G>A (p.Gly2143Asp)
|
rs369288131
|
0.00046
|
NM_003242.6(TGFBR2):c.649G>C (p.Ala217Pro)
|
rs149141477
|
0.00046
|
NM_005751.5(AKAP9):c.674T>C (p.Met225Thr)
|
rs143717354
|
0.00046
|
NM_020778.5(ALPK3):c.1982T>A (p.Met661Lys)
|
rs150227073
|
0.00046
|
NM_001267550.2(TTN):c.41488G>A (p.Val13830Ile)
|
rs149059189
|
0.00045
|
NM_004100.5(EYA4):c.1035G>C (p.Arg345Ser)
|
rs140170914
|
0.00045
|
NM_022437.3(ABCG8):c.1225A>G (p.Asn409Asp)
|
rs140373311
|
0.00044
|
NM_001267550.2(TTN):c.41521G>A (p.Asp13841Asn)
|
rs201257644
|
0.00043
|
NM_022437.3(ABCG8):c.97G>A (p.Asp33Asn)
|
rs148456883
|
0.00043
|
NM_001010874.5(TECRL):c.739A>G (p.Asn247Asp)
|
rs143329328
|
0.00042
|
NM_001267550.2(TTN):c.49413G>T (p.Trp16471Cys)
|
rs202094100
|
0.00042
|
NM_001267550.2(TTN):c.83516G>A (p.Arg27839Gln)
|
rs376820301
|
0.00042
|
NM_006440.5(TXNRD2):c.656G>C (p.Gly219Ala)
|
rs199510610
|
0.00042
|
NM_000088.4(COL1A1):c.1882G>A (p.Ala628Thr)
|
rs113950465
|
0.00041
|
NM_000214.3(JAG1):c.814G>A (p.Val272Ile)
|
rs148990028
|
0.00041
|
NM_001005242.3(PKP2):c.184C>A (p.Gln62Lys)
|
rs199601548
|
0.00041
|
NM_001365276.2(TNXB):c.8990G>A (p.Arg2997His)
|
rs41270454
|
0.00041
|
NM_002471.4(MYH6):c.4193G>A (p.Arg1398Gln)
|
rs150815925
|
0.00041
|
NM_016938.5(EFEMP2):c.728-3C>T
|
rs377139656
|
0.00041
|
NM_000169.3(GLA):c.352C>T (p.Arg118Cys)
|
rs148158093
|
0.00040
|
NM_001114753.3(ENG):c.-9G>A
|
rs368423516
|
0.00040
|
NM_000169.3(GLA):c.427G>A (p.Ala143Thr)
|
rs104894845
|
0.00039
|
NM_005751.5(AKAP9):c.1936A>G (p.Ile646Val)
|
rs144918888
|
0.00039
|
NM_020433.5(JPH2):c.692G>A (p.Arg231Gln)
|
rs761591158
|
0.00039
|
NM_000432.4(MYL2):c.141C>A (p.Asn47Lys)
|
rs199474808
|
0.00038
|
NM_000784.4(CYP27A1):c.958C>T (p.Leu320Phe)
|
rs367855115
|
0.00038
|
NM_001267550.2(TTN):c.32557C>T (p.Pro10853Ser)
|
rs201738153
|
0.00038
|
NM_020433.5(JPH2):c.1204G>A (p.Glu402Lys)
|
rs147407445
|
0.00038
|
NM_020778.5(ALPK3):c.938G>A (p.Gly313Glu)
|
rs148547083
|
0.00038
|
NM_001365276.2(TNXB):c.2947G>A (p.Ala983Thr)
|
rs138850364
|
0.00037
|
NM_001367624.2(ZNF469):c.19C>T (p.Arg7Ter)
|
rs1004428835
|
0.00037
|
NM_014391.3(ANKRD1):c.313C>T (p.Pro105Ser)
|
rs148189486
|
0.00037
|
NM_016938.5(EFEMP2):c.259G>A (p.Val87Ile)
|
rs149525720
|
0.00037
|
NM_004444.5(EPHB4):c.1384G>A (p.Gly462Arg)
|
rs146674844
|
0.00036
|
NM_005477.3(HCN4):c.2420G>A (p.Arg807His)
|
rs200395062
|
0.00036
|
NM_022437.3(ABCG8):c.1160C>T (p.Pro387Leu)
|
rs150654176
|
0.00036
|
NM_022437.3(ABCG8):c.1436A>G (p.Tyr479Cys)
|
rs150890296
|
0.00036
|
NM_001267550.2(TTN):c.57212T>C (p.Ile19071Thr)
|
rs200001206
|
0.00035
|
NM_001365276.2(TNXB):c.2927G>A (p.Arg976His)
|
rs200771983
|
0.00035
|
NM_001365276.2(TNXB):c.619G>A (p.Gly207Ser)
|
rs139154852
|
0.00035
|
NM_001365276.2(TNXB):c.6598A>G (p.Met2200Val)
|
rs373648872
|
0.00035
|
NM_001365276.2(TNXB):c.8300C>T (p.Thr2767Ile)
|
rs201649053
|
0.00035
|
NM_001365276.2(TNXB):c.8740G>A (p.Gly2914Ser)
|
rs200708257
|
0.00035
|
NM_001267550.2(TTN):c.82684T>C (p.Tyr27562His)
|
rs376616067
|
0.00034
|
NM_001365276.2(TNXB):c.3149-3C>T
|
rs372556970
|
0.00034
|
NM_001378969.1(KCND3):c.641A>G (p.Lys214Arg)
|
rs142744204
|
0.00034
|
NM_006073.4(TRDN):c.71T>A (p.Val24Glu)
|
rs201097255
|
0.00034
|
NM_020778.5(ALPK3):c.4939A>T (p.Arg1647Trp)
|
rs115364627
|
0.00034
|
NM_174936.4(PCSK9):c.1445A>G (p.Glu482Gly)
|
rs141995194
|
0.00034
|
NM_001232.4(CASQ2):c.874G>T (p.Ala292Ser)
|
rs200643387
|
0.00033
|
NM_001367624.2(ZNF469):c.943G>A (p.Glu315Lys)
|
rs530720576
|
0.00033
|
NM_002471.4(MYH6):c.5627A>G (p.Lys1876Arg)
|
rs201919534
|
0.00033
|
NM_000041.4(APOE):c.805C>G (p.Arg269Gly)
|
rs267606661
|
0.00032
|
NM_000089.4(COL1A2):c.2425C>T (p.Pro809Ser)
|
rs145355907
|
0.00032
|
NM_001079802.2(FKTN):c.25G>T (p.Val9Phe)
|
rs145387221
|
0.00032
|
NM_001365276.2(TNXB):c.8392C>T (p.Arg2798Cys)
|
rs190411129
|
0.00032
|
NM_015627.3(LDLRAP1):c.451C>T (p.Arg151Trp)
|
rs148916767
|
0.00032
|
NM_020778.5(ALPK3):c.5114G>A (p.Arg1705Gln)
|
rs116585466
|
0.00032
|
NM_022436.3(ABCG5):c.431T>C (p.Val144Ala)
|
rs376797531
|
0.00032
|
NM_001267550.2(TTN):c.1297G>A (p.Val433Ile)
|
rs146000949
|
0.00031
|
NM_001267550.2(TTN):c.53159T>C (p.Ile17720Thr)
|
rs201358641
|
0.00031
|
NM_001267550.2(TTN):c.84640A>G (p.Met28214Val)
|
rs72648221
|
0.00031
|
NM_001365276.2(TNXB):c.211G>T (p.Val71Leu)
|
rs201922477
|
0.00031
|
NM_001458.5(FLNC):c.5954C>T (p.Ser1985Leu)
|
rs200415625
|
0.00031
|
NM_024301.5(FKRP):c.1306C>T (p.Arg436Trp)
|
rs144236975
|
0.00031
|
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu)
|
rs12720452
|
0.00030
|
NM_001267550.2(TTN):c.70906C>T (p.Arg23636Cys)
|
rs189208539
|
0.00030
|
NM_001267550.2(TTN):c.97099C>T (p.Arg32367Cys)
|
rs202064385
|
0.00030
|
NM_002471.4(MYH6):c.292G>A (p.Glu98Lys)
|
rs140596256
|
0.00030
|
NM_014391.3(ANKRD1):c.368C>T (p.Thr123Met)
|
rs145387010
|
0.00030
|
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala)
|
rs143139258
|
0.00029
|
NM_001134363.3(RBM20):c.567G>T (p.Gln189His)
|
rs377623370
|
0.00029
|
NM_001267550.2(TTN):c.102190G>A (p.Ala34064Thr)
|
rs200237973
|
0.00029
|
NM_001267550.2(TTN):c.30485C>T (p.Thr10162Met)
|
rs200593368
|
0.00029
|
NM_001267550.2(TTN):c.74602A>G (p.Ile24868Val)
|
rs72646898
|
0.00029
|
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp)
|
rs138060032
|
0.00029
|
NM_001267550.2(TTN):c.88720C>T (p.Arg29574Cys)
|
rs200513274
|
0.00029
|
NM_001308093.3(GATA4):c.802G>A (p.Val268Met)
|
rs116781972
|
0.00029
|
NM_001365276.2(TNXB):c.5084C>T (p.Thr1695Met)
|
rs201973085
|
0.00029
|
NM_001458.5(FLNC):c.1474A>G (p.Lys492Glu)
|
rs118056738
|
0.00029
|
NM_012186.3(FOXE3):c.619G>A (p.Gly207Arg)
|
rs560327746
|
0.00029
|
NM_020297.4(ABCC9):c.305T>C (p.Leu102Pro)
|
rs374659816
|
0.00029
|
NM_020778.5(ALPK3):c.3302G>A (p.Gly1101Asp)
|
rs201049076
|
0.00029
|
NM_144573.4(NEXN):c.1788T>G (p.Ser596Arg)
|
rs199738750
|
0.00029
|
NM_201596.3(CACNB2):c.967G>A (p.Ala323Thr)
|
rs561197163
|
0.00029
|
NM_001105206.3(LAMA4):c.2614C>G (p.Pro872Ala)
|
rs180931319
|
0.00028
|
NM_001134363.3(RBM20):c.3115C>T (p.Pro1039Ser)
|
rs727503392
|
0.00028
|
NM_001267550.2(TTN):c.28507G>A (p.Val9503Ile)
|
rs202160275
|
0.00028
|
NM_001365276.2(TNXB):c.3277G>A (p.Val1093Met)
|
rs200432719
|
0.00028
|
NM_001367624.2(ZNF469):c.3326C>T (p.Pro1109Leu)
|
rs562264117
|
0.00028
|
NM_006073.4(TRDN):c.1811C>T (p.Thr604Ile)
|
rs763939252
|
0.00028
|
NM_017636.4(TRPM4):c.127G>A (p.Ala43Thr)
|
rs112149155
|
0.00028
|
NM_020778.5(ALPK3):c.4808T>C (p.Leu1603Pro)
|
rs145058237
|
0.00028
|
NM_144573.4(NEXN):c.242A>T (p.Asp81Val)
|
rs367871780
|
0.00028
|
NM_001267550.2(TTN):c.82402A>C (p.Lys27468Gln)
|
rs201958805
|
0.00027
|
NM_022436.3(ABCG5):c.1171C>T (p.Leu391Phe)
|
rs148997255
|
0.00027
|
NM_000238.4(KCNH2):c.2371C>T (p.Arg791Trp)
|
rs138498207
|
0.00026
|
NM_000384.3(APOB):c.925G>A (p.Ala309Thr)
|
rs141888564
|
0.00026
|
NM_001010874.5(TECRL):c.722C>T (p.Thr241Ile)
|
rs148333637
|
0.00026
|
NM_001367624.2(ZNF469):c.3109A>T (p.Arg1037Trp)
|
rs753720576
|
0.00026
|
NM_001367624.2(ZNF469):c.7981G>A (p.Gly2661Ser)
|
rs138259179
|
0.00026
|
NM_001378454.1(ALMS1):c.11626A>G (p.Asn3876Asp)
|
rs377130177
|
0.00026
|
NM_001378454.1(ALMS1):c.9589T>A (p.Ser3197Thr)
|
rs369682692
|
0.00026
|
NM_001458.5(FLNC):c.4097A>G (p.Asn1366Ser)
|
rs185746835
|
0.00026
|
NM_001458.5(FLNC):c.5311C>G (p.Pro1771Ala)
|
rs200001272
|
0.00026
|
NM_004444.5(EPHB4):c.1079G>A (p.Arg360His)
|
rs202006098
|
0.00026
|
NM_005751.5(AKAP9):c.9697C>T (p.Arg3233Cys)
|
rs61757674
|
0.00026
|
NM_006073.4(TRDN):c.2187G>T (p.Gln729His)
|
rs373439044
|
0.00026
|
NM_007078.3(LDB3):c.2092G>A (p.Ala698Thr)
|
rs45577134
|
0.00026
|
NM_020778.5(ALPK3):c.4387A>G (p.Arg1463Gly)
|
rs147450988
|
0.00026
|
NM_024301.5(FKRP):c.1003G>A (p.Ala335Thr)
|
rs776947530
|
0.00026
|
NM_000256.3(MYBPC3):c.2873C>T (p.Thr958Ile)
|
rs376504548
|
0.00025
|
NM_000890.5(KCNJ5):c.122G>A (p.Arg41His)
|
rs139073333
|
0.00025
|
NM_001103.4(ACTN2):c.1235C>T (p.Thr412Met)
|
rs139515659
|
0.00025
|
NM_001267550.2(TTN):c.105482C>A (p.Thr35161Asn)
|
rs372263729
|
0.00025
|
NM_001267550.2(TTN):c.84923A>C (p.Gln28308Pro)
|
rs201674674
|
0.00025
|
NM_001458.5(FLNC):c.1757T>C (p.Val586Ala)
|
rs374132023
|
0.00025
|
NM_001458.5(FLNC):c.2068T>C (p.Phe690Leu)
|
rs200943714
|
0.00025
|
NM_002471.4(MYH6):c.1048G>A (p.Val350Ile)
|
rs200260629
|
0.00025
|
NM_002474.3(MYH11):c.5393G>A (p.Arg1798Gln)
|
rs148938946
|
0.00025
|
NM_005751.5(AKAP9):c.464C>A (p.Thr155Asn)
|
rs142632541
|
0.00025
|
NM_005751.5(AKAP9):c.8677G>C (p.Asp2893His)
|
rs142573103
|
0.00025
|
NM_014000.3(VCL):c.1294C>G (p.Leu432Val)
|
rs144146254
|
0.00025
|
NM_022436.3(ABCG5):c.1528C>A (p.His510Asn)
|
rs199984328
|
0.00025
|
NM_022773.4(LMF1):c.1138G>A (p.Val380Met)
|
rs201734228
|
0.00025
|
NM_170707.4(LMNA):c.1634G>A (p.Arg545His)
|
rs142191737
|
0.00025
|
NM_172201.2(KCNE2):c.80G>A (p.Arg27His)
|
rs148968498
|
0.00025
|
NM_181486.4(TBX5):c.100G>T (p.Ala34Ser)
|
rs368311885
|
0.00025
|
NM_000089.4(COL1A2):c.3283C>T (p.Pro1095Ser)
|
rs370608825
|
0.00024
|
NM_000152.5(GAA):c.922C>T (p.His308Tyr)
|
rs112025212
|
0.00024
|
NM_000218.3(KCNQ1):c.1861G>A (p.Gly621Ser)
|
rs199472820
|
0.00024
|
NM_000237.3(LPL):c.998G>A (p.Arg333His)
|
rs144466625
|
0.00024
|
NM_000256.3(MYBPC3):c.1468G>A (p.Gly490Arg)
|
rs200625851
|
0.00024
|
NM_000256.3(MYBPC3):c.184A>C (p.Thr62Pro)
|
rs377225516
|
0.00024
|
NM_000784.4(CYP27A1):c.1564G>A (p.Val522Met)
|
rs151117761
|
0.00024
|
NM_001035.3(RYR2):c.892C>T (p.Arg298Cys)
|
rs551099887
|
0.00024
|
NM_001232.4(CASQ2):c.985C>T (p.Pro329Ser)
|
rs28730713
|
0.00024
|
NM_001267550.2(TTN):c.91173A>C (p.Glu30391Asp)
|
rs199505541
|
0.00024
|
NM_001365276.2(TNXB):c.6211G>A (p.Gly2071Arg)
|
rs200319996
|
0.00024
|
NM_001365276.2(TNXB):c.7351C>T (p.Arg2451Trp)
|
rs201990072
|
0.00024
|
NM_001365276.2(TNXB):c.7946C>T (p.Thr2649Met)
|
rs367661800
|
0.00024
|
NM_001458.5(FLNC):c.5221G>A (p.Glu1741Lys)
|
rs200792813
|
0.00024
|
NM_007078.3(LDB3):c.1606G>A (p.Val536Ile)
|
rs113817827
|
0.00024
|
NM_016599.5(MYOZ2):c.146A>G (p.His49Arg)
|
rs148908208
|
0.00024
|
NM_017636.4(TRPM4):c.566C>T (p.Ala189Val)
|
rs145501662
|
0.00024
|
NM_020778.5(ALPK3):c.1412C>T (p.Thr471Ile)
|
rs143709902
|
0.00024
|
NM_020778.5(ALPK3):c.4156A>G (p.Met1386Val)
|
rs149627415
|
0.00024
|
NM_032578.4(MYPN):c.2321C>A (p.Ser774Tyr)
|
rs140933016
|
0.00024
|
NM_000088.4(COL1A1):c.1042G>A (p.Ala348Thr)
|
rs139955975
|
0.00023
|
NM_000088.4(COL1A1):c.3849C>A (p.Asn1283Lys)
|
rs199911681
|
0.00023
|
NM_000335.5(SCN5A):c.5182G>A (p.Asp1728Asn)
|
rs763880032
|
0.00023
|
NM_001105206.3(LAMA4):c.503G>A (p.Arg168Lys)
|
rs200368819
|
0.00023
|
NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln)
|
rs199632397
|
0.00023
|
NM_001267550.2(TTN):c.6584A>G (p.Glu2195Gly)
|
rs202032875
|
0.00023
|
NM_001365276.2(TNXB):c.6358G>A (p.Gly2120Ser)
|
rs777574450
|
0.00023
|
NM_001378454.1(ALMS1):c.11070C>T (p.Gly3690=)
|
rs371329585
|
0.00023
|
NM_006440.5(TXNRD2):c.77T>G (p.Val26Gly)
|
rs925920723
|
0.00023
|
NM_020778.5(ALPK3):c.832G>A (p.Gly278Arg)
|
rs573106150
|
0.00023
|
NM_001005242.3(PKP2):c.302G>A (p.Arg101His)
|
rs149542398
|
0.00022
|
NM_001105206.3(LAMA4):c.4645A>T (p.Asn1549Tyr)
|
rs141261442
|
0.00022
|
NM_001105206.3(LAMA4):c.578C>T (p.Ser193Leu)
|
rs147870828
|
0.00022
|
NM_001267550.2(TTN):c.104519G>A (p.Arg34840Gln)
|
rs199710082
|
0.00022
|
NM_001267550.2(TTN):c.70817T>C (p.Met23606Thr)
|
rs371030086
|
0.00022
|
NM_001267550.2(TTN):c.87448A>T (p.Ile29150Leu)
|
rs189030321
|
0.00022
|
NM_001365276.2(TNXB):c.2623G>A (p.Val875Ile)
|
rs377480086
|
0.00022
|
NM_001378454.1(ALMS1):c.12044G>A (p.Gly4015Asp)
|
rs200462734
|
0.00022
|
NM_001378454.1(ALMS1):c.3689G>A (p.Gly1230Glu)
|
rs372619046
|
0.00022
|
NM_001378454.1(ALMS1):c.4228G>C (p.Ala1410Pro)
|
rs201517720
|
0.00022
|
NM_001378454.1(ALMS1):c.5918C>A (p.Pro1973Gln)
|
rs199615641
|
0.00022
|
NM_002471.4(MYH6):c.5201C>T (p.Ser1734Leu)
|
rs151324358
|
0.00022
|
NM_004444.5(EPHB4):c.40G>A (p.Ala14Thr)
|
rs139513482
|
0.00022
|
NM_007078.3(LDB3):c.1049C>T (p.Thr350Ile)
|
rs200796750
|
0.00022
|
NM_017636.4(TRPM4):c.2820G>T (p.Trp940Cys)
|
rs199905308
|
0.00022
|
NM_020778.5(ALPK3):c.3026G>A (p.Arg1009Gln)
|
rs138597569
|
0.00022
|
NM_024422.6(DSC2):c.854T>C (p.Ile285Thr)
|
rs199918720
|
0.00022
|
NM_000088.4(COL1A1):c.1691G>A (p.Arg564His)
|
rs1800211
|
0.00021
|
NM_000152.5(GAA):c.2323C>A (p.Leu775Met)
|
rs147290429
|
0.00021
|
NM_000237.3(LPL):c.1342G>A (p.Glu448Lys)
|
rs149089920
|
0.00021
|
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met)
|
rs199473603
|
0.00021
|
NM_000384.3(APOB):c.10476T>A (p.Ile3492=)
|
rs139929439
|
0.00021
|
NM_000384.3(APOB):c.10708C>T (p.His3570Tyr)
|
rs201736972
|
0.00021
|
NM_001035.3(RYR2):c.2389G>A (p.Gly797Arg)
|
rs200121281
|
0.00021
|
NM_001035.3(RYR2):c.2613+4C>G
|
rs371880082
|
0.00021
|
NM_001103.4(ACTN2):c.1106C>T (p.Ser369Leu)
|
rs747400815
|
0.00021
|
NM_001267550.2(TTN):c.50850C>A (p.Asp16950Glu)
|
rs200700386
|
0.00021
|
NM_001267550.2(TTN):c.55306G>A (p.Glu18436Lys)
|
rs201510986
|
0.00021
|
NM_001267550.2(TTN):c.55852T>C (p.Cys18618Arg)
|
rs369260968
|
0.00021
|
NM_001267550.2(TTN):c.58363G>A (p.Gly19455Ser)
|
rs191927501
|
0.00021
|
NM_001267550.2(TTN):c.69140T>C (p.Val23047Ala)
|
rs368697152
|
0.00021
|
NM_001267550.2(TTN):c.88984G>A (p.Gly29662Ser)
|
rs187460377
|
0.00021
|
NM_001267550.2(TTN):c.93803A>C (p.Lys31268Thr)
|
rs200766837
|
0.00021
|
NM_001365276.2(TNXB):c.2366G>A (p.Gly789Glu)
|
rs367834992
|
0.00021
|
NM_001367624.2(ZNF469):c.5915G>T (p.Gly1972Val)
|
rs573931575
|
0.00021
|
NM_001378454.1(ALMS1):c.3278C>T (p.Pro1093Leu)
|
rs766187468
|
0.00021
|
NM_001458.5(FLNC):c.2635C>T (p.Arg879Cys)
|
rs374983276
|
0.00021
|
NM_001458.5(FLNC):c.7499G>A (p.Ser2500Asn)
|
rs371244800
|
0.00021
|
NM_001927.4(DES):c.166G>C (p.Val56Leu)
|
rs578066781
|
0.00021
|
NM_002474.3(MYH11):c.217A>C (p.Lys73Gln)
|
rs147447269
|
0.00021
|
NM_003480.4(MFAP5):c.341G>A (p.Arg114Gln)
|
rs774489509
|
0.00021
|
NM_004100.5(EYA4):c.987G>T (p.Met329Ile)
|
rs146144708
|
0.00021
|
NM_004415.4(DSP):c.5035C>T (p.His1679Tyr)
|
rs762561997
|
0.00021
|
NM_006393.3(NEBL):c.82-4A>G
|
rs368268112
|
0.00021
|
NM_016203.4(PRKAG2):c.521C>T (p.Thr174Met)
|
rs148056866
|
0.00021
|
NM_020778.5(ALPK3):c.1589G>A (p.Arg530Gln)
|
rs150733634
|
0.00021
|
NM_020778.5(ALPK3):c.3596G>A (p.Ser1199Asn)
|
rs372009130
|
0.00021
|
NM_020778.5(ALPK3):c.80G>A (p.Gly27Asp)
|
rs931782668
|
0.00021
|
NM_024422.6(DSC2):c.2546A>C (p.His849Pro)
|
rs184487763
|
0.00021
|
NM_174934.4(SCN4B):c.18C>A (p.Asp6Glu)
|
rs149979176
|
0.00021
|
NM_000384.3(APOB):c.12959T>C (p.Met4320Thr)
|
rs377127458
|
0.00020
|
NM_000384.3(APOB):c.3724T>A (p.Ser1242Thr)
|
rs200261177
|
0.00020
|
NM_001035.3(RYR2):c.13303A>G (p.Thr4435Ala)
|
rs374019555
|
0.00020
|
NM_001035.3(RYR2):c.1939C>T (p.Arg647Cys)
|
rs202040519
|
0.00020
|
NM_001267550.2(TTN):c.104516G>A (p.Arg34839Gln)
|
rs371628882
|
0.00020
|
NM_001267550.2(TTN):c.48460+5G>A
|
rs374413644
|
0.00020
|
NM_001267550.2(TTN):c.63352C>T (p.Arg21118Trp)
|
rs200726948
|
0.00020
|
NM_001267550.2(TTN):c.87623A>T (p.Tyr29208Phe)
|
rs201831707
|
0.00020
|
NM_001289808.2(CRYAB):c.116C>T (p.Pro39Leu)
|
rs149787233
|
0.00020
|
NM_001367624.2(ZNF469):c.4907A>G (p.His1636Arg)
|
rs557636016
|
0.00020
|
NM_001378454.1(ALMS1):c.8240T>G (p.Val2747Gly)
|
rs188857186
|
0.00020
|
NM_174936.4(PCSK9):c.499C>T (p.Arg167Trp)
|
rs137878146
|
0.00020
|
NM_000071.3(CBS):c.397G>A (p.Asp133Asn)
|
rs539326697
|
0.00019
|
NM_000088.4(COL1A1):c.2932C>T (p.Pro978Ser)
|
rs193922153
|
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_000256.3(MYBPC3):c.2980C>T (p.Leu994Phe)
|
rs375776406
|
0.00019
|
NM_000335.5(SCN5A):c.1943C>T (p.Pro648Leu)
|
rs45609733
|
0.00019
|
NM_000371.4(TTR):c.190T>C (p.Phe64Leu)
|
rs138065384
|
0.00019
|
NM_000371.4(TTR):c.368G>A (p.Arg123His)
|
rs148538950
|
0.00019
|
NM_001105206.3(LAMA4):c.668G>A (p.Arg223His)
|
rs200017155
|
0.00019
|
NM_001134363.3(RBM20):c.925G>A (p.Gly309Arg)
|
rs397516625
|
0.00019
|
NM_001267550.2(TTN):c.100447G>C (p.Glu33483Gln)
|
rs368321767
|
0.00019
|
NM_001267550.2(TTN):c.101281C>T (p.Arg33761Trp)
|
rs201421156
|
0.00019
|
NM_001267550.2(TTN):c.104690C>T (p.Ser34897Leu)
|
rs373446383
|
0.00019
|
NM_001267550.2(TTN):c.3170T>C (p.Val1057Ala)
|
rs145940356
|
0.00019
|
NM_001267550.2(TTN):c.52826A>T (p.Gln17609Leu)
|
rs368820294
|
0.00019
|
NM_001267550.2(TTN):c.68437G>A (p.Glu22813Lys)
|
rs200797552
|
0.00019
|
NM_001267550.2(TTN):c.78064G>A (p.Val26022Ile)
|
rs374764110
|
0.00019
|
NM_001378454.1(ALMS1):c.3379C>T (p.Pro1127Ser)
|
rs182127619
|
0.00019
|
NM_001378454.1(ALMS1):c.4049A>G (p.His1350Arg)
|
rs373366352
|
0.00019
|
NM_001378454.1(ALMS1):c.7288A>C (p.Ser2430Arg)
|
rs539112266
|
0.00019
|
NM_001378454.1(ALMS1):c.8416T>G (p.Phe2806Val)
|
rs763332859
|
0.00019
|
NM_001378454.1(ALMS1):c.8644C>T (p.Leu2882Phe)
|
rs373944325
|
0.00019
|
NM_001458.5(FLNC):c.1924G>A (p.Val642Ile)
|
rs369387744
|
0.00019
|
NM_001458.5(FLNC):c.2296C>T (p.Arg766Trp)
|
rs200215340
|
0.00019
|
NM_001458.5(FLNC):c.3938G>A (p.Arg1313Gln)
|
rs199804244
|
0.00019
|
NM_001927.4(DES):c.635G>A (p.Arg212Gln)
|
rs144261171
|
0.00019
|
NM_002471.4(MYH6):c.3598G>C (p.Asp1200His)
|
rs372794975
|
0.00019
|
NM_002471.4(MYH6):c.4328C>A (p.Ala1443Asp)
|
rs727503234
|
0.00019
|
NM_003098.3(SNTA1):c.1157C>T (p.Pro386Leu)
|
rs200865199
|
0.00019
|
NM_003480.4(MFAP5):c.442C>T (p.Pro148Ser)
|
rs148770543
|
0.00019
|
NM_004415.4(DSP):c.6010G>T (p.Val2004Phe)
|
rs764692193
|
0.00019
|
NM_004415.4(DSP):c.6247C>T (p.Arg2083Cys)
|
rs370093129
|
0.00019
|
NM_004415.4(DSP):c.961G>C (p.Val321Leu)
|
rs143994626
|
0.00019
|
NM_004982.4(KCNJ8):c.263C>G (p.Ala88Gly)
|
rs117808169
|
0.00019
|
NM_006073.4(TRDN):c.1537+1G>A
|
rs189125299
|
0.00019
|
NM_006440.5(TXNRD2):c.221C>G (p.Ser74Cys)
|
rs200942544
|
0.00019
|
NM_006440.5(TXNRD2):c.662C>T (p.Thr221Met)
|
rs188258380
|
0.00019
|
NM_014000.3(VCL):c.2969C>T (p.Ala990Val)
|
rs150595117
|
0.00019
|
NM_016938.5(EFEMP2):c.977G>A (p.Arg326His)
|
rs141868759
|
0.00019
|
NM_017636.4(TRPM4):c.1409A>G (p.Asn470Ser)
|
rs746075675
|
0.00019
|
NM_017636.4(TRPM4):c.2774A>C (p.Lys925Thr)
|
rs752778561
|
0.00019
|
NM_022437.3(ABCG8):c.1629G>T (p.Arg543Ser)
|
rs201690654
|
0.00019
|
NM_022437.3(ABCG8):c.1753A>T (p.Thr585Ser)
|
rs371166792
|
0.00019
|
NM_030777.4(SLC2A10):c.781G>A (p.Val261Ile)
|
rs372561968
|
0.00019
|
NM_174934.4(SCN4B):c.520A>G (p.Ile174Val)
|
rs377730779
|
0.00019
|
NM_201596.3(CACNB2):c.1055C>T (p.Ala352Val)
|
rs144367884
|
0.00019
|
NM_201596.3(CACNB2):c.634G>C (p.Val212Leu)
|
rs149167651
|
0.00019
|
NM_000256.3(MYBPC3):c.407-5C>T
|
rs371312567
|
0.00018
|
NM_001035.3(RYR2):c.5294C>G (p.Ser1765Cys)
|
rs564806219
|
0.00018
|
NM_001134363.3(RBM20):c.1816G>A (p.Val606Met)
|
rs727505067
|
0.00018
|
NM_001148.6(ANK2):c.10702C>T (p.Arg3568Trp)
|
rs72556376
|
0.00018
|
NM_001267550.2(TTN):c.100432T>G (p.Trp33478Gly)
|
rs372304158
|
0.00018
|
NM_001267550.2(TTN):c.58072C>T (p.Arg19358Cys)
|
rs371973579
|
0.00018
|
NM_001267550.2(TTN):c.58397G>C (p.Gly19466Ala)
|
rs201922910
|
0.00018
|
NM_001267550.2(TTN):c.58971A>C (p.Glu19657Asp)
|
rs200728232
|
0.00018
|
NM_001267550.2(TTN):c.96928A>C (p.Thr32310Pro)
|
rs542208825
|
0.00018
|
NM_001365276.2(TNXB):c.8371G>A (p.Val2791Met)
|
rs369350764
|
0.00018
|
NM_001365276.2(TNXB):c.9460A>G (p.Thr3154Ala)
|
rs777498453
|
0.00018
|
NM_001367624.2(ZNF469):c.7523C>T (p.Ala2508Val)
|
rs570690992
|
0.00018
|
NM_001378454.1(ALMS1):c.2893T>C (p.Tyr965His)
|
rs201180147
|
0.00018
|
NM_001378454.1(ALMS1):c.649A>G (p.Ile217Val)
|
rs200944504
|
0.00018
|
NM_001458.5(FLNC):c.7108G>A (p.Gly2370Ser)
|
rs201917318
|
0.00018
|
NM_004006.3(DMD):c.94-3C>T
|
rs373907950
|
0.00018
|
NM_004982.4(KCNJ8):c.332A>G (p.Glu111Gly)
|
rs138391404
|
0.00018
|
NM_005477.3(HCN4):c.302C>T (p.Ala101Val)
|
rs781730381
|
0.00018
|
NM_007078.3(LDB3):c.1910C>T (p.Ala637Val)
|
rs141569007
|
0.00018
|
NM_015141.4(GPD1L):c.247G>A (p.Glu83Lys)
|
rs72552292
|
0.00018
|
NM_017636.4(TRPM4):c.1783C>G (p.Leu595Val)
|
rs144812913
|
0.00018
|
NM_022773.4(LMF1):c.688C>T (p.Arg230Trp)
|
rs376563644
|
0.00018
|
NM_001005242.3(PKP2):c.928G>A (p.Val310Met)
|
rs768396351
|
0.00017
|
NM_001267550.2(TTN):c.12844A>C (p.Ile4282Leu)
|
rs56244420
|
0.00017
|
NM_001267550.2(TTN):c.51683C>T (p.Ala17228Val)
|
rs370644359
|
0.00017
|
NM_001267550.2(TTN):c.61556G>A (p.Arg20519Gln)
|
rs727504191
|
0.00017
|
NM_001267550.2(TTN):c.81892G>A (p.Asp27298Asn)
|
rs200697681
|
0.00017
|
NM_001365276.2(TNXB):c.9580G>A (p.Asp3194Asn)
|
rs200036158
|
0.00017
|
NM_001367624.2(ZNF469):c.5144G>A (p.Arg1715Lys)
|
rs281865149
|
0.00017
|
NM_001367624.2(ZNF469):c.7312C>G (p.Pro2438Ala)
|
rs546332627
|
0.00017
|
NM_001378454.1(ALMS1):c.3812C>A (p.Pro1271Gln)
|
rs372563916
|
0.00017
|
NM_003673.4(TCAP):c.187C>T (p.Arg63Cys)
|
rs758048577
|
0.00017
|
NM_005633.4(SOS1):c.3347-1G>A
|
rs141565234
|
0.00017
|
NM_005751.5(AKAP9):c.9113G>A (p.Arg3038His)
|
rs756856124
|
0.00017
|
NM_006073.4(TRDN):c.419A>G (p.Lys140Arg)
|
rs200953683
|
0.00017
|
NM_014391.3(ANKRD1):c.347C>T (p.Thr116Met)
|
rs142354133
|
0.00017
|
NM_020297.4(ABCC9):c.4512+690C>T
|
rs397517191
|
0.00017
|
NM_020433.5(JPH2):c.1852A>G (p.Thr618Ala)
|
rs376612687
|
0.00017
|
NM_020778.5(ALPK3):c.2146G>A (p.Ala716Thr)
|
rs201330184
|
0.00017
|
NM_020778.5(ALPK3):c.653C>T (p.Pro218Leu)
|
rs373555781
|
0.00017
|
NM_022773.4(LMF1):c.441C>G (p.Asn147Lys)
|
rs182685983
|
0.00017
|
NM_000089.4(COL1A2):c.2168A>G (p.Asn723Ser)
|
rs189374343
|
0.00016
|
NM_000219.6(KCNE1):c.238G>A (p.Val80Ile)
|
rs769368494
|
0.00016
|
NM_000238.4(KCNH2):c.431A>T (p.Asp144Val)
|
rs146284716
|
0.00016
|
NM_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys)
|
rs193922377
|
0.00016
|
NM_000335.5(SCN5A):c.3157G>A (p.Glu1053Lys)
|
rs137854617
|
0.00016
|
NM_000335.5(SCN5A):c.5474G>A (p.Arg1825His)
|
rs137854610
|
0.00016
|
NM_000384.3(APOB):c.6969T>A (p.Asn2323Lys)
|
rs138118085
|
0.00016
|
NM_000384.3(APOB):c.8882A>G (p.Asn2961Ser)
|
rs142756262
|
0.00016
|
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser)
|
rs72658865
|
0.00016
|
NM_000722.4(CACNA2D1):c.532A>G (p.Ile178Val)
|
rs80063198
|
0.00016
|
NM_001005242.3(PKP2):c.1888G>A (p.Val630Met)
|
rs143038626
|
0.00016
|
NM_001005242.3(PKP2):c.1951C>T (p.Arg651Cys)
|
rs199583774
|
0.00016
|
NM_001005242.3(PKP2):c.307C>A (p.Pro103Thr)
|
rs139215336
|
0.00016
|
NM_001035.3(RYR2):c.10962A>C (p.Glu3654Asp)
|
rs547005691
|
0.00016
|
NM_001035.3(RYR2):c.8145G>T (p.Glu2715Asp)
|
rs200420897
|
0.00016
|
NM_001040151.2(SCN3B):c.583G>A (p.Ala195Thr)
|
rs375755770
|
0.00016
|
NM_001134363.3(RBM20):c.2042A>G (p.Tyr681Cys)
|
rs372048968
|
0.00016
|
NM_001134363.3(RBM20):c.2547T>A (p.Asn849Lys)
|
rs562882648
|
0.00016
|
NM_001134363.3(RBM20):c.2551G>A (p.Ala851Thr)
|
rs376071070
|
0.00016
|
NM_001134363.3(RBM20):c.3004C>G (p.Leu1002Val)
|
rs375355193
|
0.00016
|
NM_001134363.3(RBM20):c.761C>T (p.Ser254Leu)
|
rs766868824
|
0.00016
|
NM_001148.6(ANK2):c.11674G>A (p.Gly3892Arg)
|
rs778797451
|
0.00016
|
NM_001232.4(CASQ2):c.1087G>A (p.Glu363Lys)
|
rs1193520667
|
0.00016
|
NM_001267550.2(TTN):c.12011A>G (p.Glu4004Gly)
|
rs376000381
|
0.00016
|
NM_001267550.2(TTN):c.12332C>G (p.Ala4111Gly)
|
rs140289517
|
0.00016
|
NM_001267550.2(TTN):c.42891C>T (p.Gly14297=)
|
rs550471556
|
0.00016
|
NM_001267550.2(TTN):c.4291C>T (p.Arg1431Trp)
|
rs139636676
|
0.00016
|
NM_001267550.2(TTN):c.43315C>T (p.Arg14439Cys)
|
rs200914097
|
0.00016
|
NM_001267550.2(TTN):c.54104C>T (p.Ala18035Val)
|
rs182445366
|
0.00016
|
NM_001267550.2(TTN):c.54490T>C (p.Tyr18164His)
|
rs370135374
|
0.00016
|
NM_001267550.2(TTN):c.56456A>G (p.Asn18819Ser)
|
rs201337786
|
0.00016
|
NM_001267550.2(TTN):c.60734G>A (p.Arg20245Gln)
|
rs575837567
|
0.00016
|
NM_001267550.2(TTN):c.64898G>A (p.Arg21633Gln)
|
rs141965360
|
0.00016
|
NM_001267550.2(TTN):c.66491A>T (p.Lys22164Ile)
|
rs371081043
|
0.00016
|
NM_001267550.2(TTN):c.79546G>A (p.Gly26516Ser)
|
rs776256093
|
0.00016
|
NM_001267550.2(TTN):c.79883G>C (p.Arg26628Pro)
|
rs201091376
|
0.00016
|
NM_001267550.2(TTN):c.81673G>A (p.Val27225Ile)
|
rs375211424
|
0.00016
|
NM_001267550.2(TTN):c.87367A>C (p.Ser29123Arg)
|
rs375198596
|
0.00016
|
NM_001267550.2(TTN):c.97055G>A (p.Arg32352His)
|
rs575939045
|
0.00016
|
NM_001367624.2(ZNF469):c.3931C>T (p.Pro1311Ser)
|
rs187453092
|
0.00016
|
NM_001458.5(FLNC):c.1081C>T (p.Arg361Cys)
|
rs200206944
|
0.00016
|
NM_001458.5(FLNC):c.1108A>G (p.Met370Val)
|
rs370406338
|
0.00016
|
NM_001458.5(FLNC):c.2163C>A (p.Asn721Lys)
|
rs370539335
|
0.00016
|
NM_001458.5(FLNC):c.2747G>A (p.Arg916Gln)
|
rs143720860
|
0.00016
|
NM_001458.5(FLNC):c.4763C>G (p.Ala1588Gly)
|
rs148545460
|
0.00016
|
NM_001927.4(DES):c.643G>A (p.Val215Met)
|
rs144908941
|
0.00016
|
NM_001943.5(DSG2):c.2434G>A (p.Gly812Ser)
|
rs121913010
|
0.00016
|
NM_002317.7(LOX):c.235G>A (p.Ala79Thr)
|
rs752839330
|
0.00016
|
NM_002471.4(MYH6):c.5293G>A (p.Ala1765Thr)
|
rs397516775
|
0.00016
|
NM_002474.3(MYH11):c.3291C>T (p.Ala1097=)
|
rs147605116
|
0.00016
|
NM_003476.5(CSRP3):c.175A>G (p.Lys59Glu)
|
rs769003538
|
0.00016
|
NM_004006.3(DMD):c.8212T>C (p.Trp2738Arg)
|
rs372600090
|
0.00016
|
NM_004415.4(DSP):c.3706A>G (p.Arg1236Gly)
|
rs377098318
|
0.00016
|
NM_004415.4(DSP):c.6479G>A (p.Arg2160Gln)
|
rs146642551
|
0.00016
|
NM_004415.4(DSP):c.8482G>A (p.Gly2828Ser)
|
rs369682599
|
0.00016
|
NM_004415.4(DSP):c.943C>T (p.Arg315Cys)
|
rs200476515
|
0.00016
|
NM_005633.4(SOS1):c.2966G>A (p.Arg989Lys)
|
rs202043599
|
0.00016
|
NM_006073.4(TRDN):c.1282C>T (p.Arg428Ter)
|
rs202219343
|
0.00016
|
NM_006073.4(TRDN):c.85G>A (p.Gly29Arg)
|
rs763469367
|
0.00016
|
NM_006440.5(TXNRD2):c.2T>C (p.Met1Thr)
|
rs749057584
|
0.00016
|
NM_006440.5(TXNRD2):c.591+1G>C
|
rs200610775
|
0.00016
|
NM_007078.3(LDB3):c.690-4621A>G
|
rs370053163
|
0.00016
|
NM_007078.3(LDB3):c.769G>C (p.Glu257Gln)
|
rs143996848
|
0.00016
|
NM_014391.3(ANKRD1):c.234A>T (p.Arg78Ser)
|
rs141376679
|
0.00016
|
NM_014476.6(PDLIM3):c.896G>A (p.Ser299Asn)
|
rs143812960
|
0.00016
|
NM_014908.4(DOLK):c.1257C>G (p.Ile419Met)
|
rs138962748
|
0.00016
|
NM_017636.4(TRPM4):c.3224T>C (p.Leu1075Pro)
|
rs144421653
|
0.00016
|
NM_018699.4(PRDM5):c.1339T>A (p.Leu447Ile)
|
rs193201534
|
0.00016
|
NM_020778.5(ALPK3):c.4081C>T (p.Leu1361Phe)
|
rs780101092
|
0.00016
|
NM_020778.5(ALPK3):c.4765C>T (p.Leu1589Phe)
|
rs1012634268
|
0.00016
|
NM_022437.3(ABCG8):c.1486A>G (p.Lys496Glu)
|
rs762225826
|
0.00016
|
NM_024301.5(FKRP):c.1136G>A (p.Arg379Gln)
|
rs140217866
|
0.00016
|
NM_000214.3(JAG1):c.2497G>A (p.Ala833Thr)
|
rs574205422
|
0.00015
|
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_000384.3(APOB):c.4970C>T (p.Thr1657Met)
|
rs144239254
|
0.00015
|
NM_000384.3(APOB):c.7577T>C (p.Met2526Thr)
|
rs373272476
|
0.00015
|
NM_001035.3(RYR2):c.6022+5G>A
|
rs376389213
|
0.00015
|
NM_001077653.2(TBX20):c.1309C>T (p.Arg437Cys)
|
rs200704561
|
0.00015
|
NM_001105206.3(LAMA4):c.4792G>T (p.Ala1598Ser)
|
rs202176359
|
0.00015
|
NM_001267550.2(TTN):c.45014T>C (p.Leu15005Pro)
|
rs369992659
|
0.00015
|
NM_001267550.2(TTN):c.49871G>A (p.Arg16624Gln)
|
rs367566671
|
0.00015
|
NM_001267550.2(TTN):c.56255C>T (p.Pro18752Leu)
|
rs200132226
|
0.00015
|
NM_001365276.2(TNXB):c.1480A>T (p.Thr494Ser)
|
rs770149701
|
0.00015
|
NM_001365276.2(TNXB):c.209A>G (p.Gln70Arg)
|
rs199581373
|
0.00015
|
NM_001365276.2(TNXB):c.5155G>A (p.Val1719Met)
|
rs200125936
|
0.00015
|
NM_001367624.2(ZNF469):c.5341G>A (p.Gly1781Ser)
|
rs555047442
|
0.00015
|
NM_001368067.1(LDB3):c.511G>A (p.Ala171Thr)
|
rs373632943
|
0.00015
|
NM_001378454.1(ALMS1):c.5276A>G (p.Tyr1759Cys)
|
rs200293447
|
0.00015
|
NM_001378454.1(ALMS1):c.6812A>G (p.Asn2271Ser)
|
rs111659663
|
0.00015
|
NM_001378454.1(ALMS1):c.9145A>G (p.Ile3049Val)
|
rs202228570
|
0.00015
|
NM_001458.5(FLNC):c.3304C>T (p.Pro1102Ser)
|
rs199707920
|
0.00015
|
NM_001458.5(FLNC):c.5296T>C (p.Trp1766Arg)
|
rs751650734
|
0.00015
|
NM_001458.5(FLNC):c.970-4A>G
|
rs532143625
|
0.00015
|
NM_002294.3(LAMP2):c.73C>T (p.Arg25Trp)
|
rs730880478
|
0.00015
|
NM_002317.7(LOX):c.308G>C (p.Arg103Pro)
|
rs200513395
|
0.00015
|
NM_002474.3(MYH11):c.1749+4C>G
|
rs776271431
|
0.00015
|
NM_002474.3(MYH11):c.3766A>C (p.Lys1256Gln)
|
rs149241435
|
0.00015
|
NM_004100.5(EYA4):c.415T>A (p.Ser139Thr)
|
rs146999911
|
0.00015
|
NM_007078.3(LDB3):c.826C>T (p.Arg276Cys)
|
rs397517226
|
0.00015
|
NM_014908.4(DOLK):c.1324G>A (p.Ala442Thr)
|
rs143641133
|
0.00015
|
NM_016203.4(PRKAG2):c.698C>G (p.Ala233Gly)
|
rs201240745
|
0.00015
|
NM_017636.4(TRPM4):c.857C>T (p.Thr286Met)
|
rs775793134
|
0.00015
|
NM_020433.5(JPH2):c.1465G>A (p.Gly489Arg)
|
rs1446439010
|
0.00015
|
NM_020778.4(ALPK3):c.154C>T (p.Pro52Ser)
|
rs373853510
|
0.00015
|
NM_020778.4(ALPK3):c.374C>T (p.Ala125Val)
|
rs539539451
|
0.00015
|
NM_020778.5(ALPK3):c.2831G>A (p.Gly944Glu)
|
rs558514709
|
0.00015
|
NM_022437.3(ABCG8):c.1845G>C (p.Met615Ile)
|
rs371711306
|
0.00015
|
NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys)
|
rs61094188
|
0.00015
|
NM_181486.4(TBX5):c.1381G>A (p.Val461Met)
|
rs201152128
|
0.00015
|
NM_000088.4(COL1A1):c.2944C>A (p.Pro982Thr)
|
rs141117382
|
0.00014
|
NM_000088.4(COL1A1):c.3061G>C (p.Glu1021Gln)
|
rs139593707
|
0.00014
|
NM_000235.4(LIPA):c.662A>G (p.Asp221Gly)
|
rs145163592
|
0.00014
|
NM_000335.5(SCN5A):c.1425A>C (p.Arg475Ser)
|
rs199473116
|
0.00014
|
NM_000384.3(APOB):c.2914G>A (p.Gly972Ser)
|
rs199893862
|
0.00014
|
NM_000384.3(APOB):c.6941T>C (p.Leu2314Pro)
|
rs372035579
|
0.00014
|
NM_000719.7(CACNA1C):c.4075-4C>A
|
rs369044605
|
0.00014
|
NM_001035.3(RYR2):c.10523T>C (p.Ile3508Thr)
|
rs115622575
|
0.00014
|
NM_001035.3(RYR2):c.1476+4C>T
|
rs369442980
|
0.00014
|
NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg)
|
rs200450676
|
0.00014
|
NM_001035.3(RYR2):c.8378G>A (p.Arg2793Gln)
|
rs559773178
|
0.00014
|
NM_001077653.2(TBX20):c.1310G>A (p.Arg437His)
|
rs375484585
|
0.00014
|
NM_001079802.2(FKTN):c.383G>A (p.Arg128Gln)
|
rs146049441
|
0.00014
|
NM_001103.4(ACTN2):c.1930G>A (p.Ala644Thr)
|
rs146164600
|
0.00014
|
NM_001103.4(ACTN2):c.2367+5G>A
|
rs200469353
|
0.00014
|
NM_001105206.3(LAMA4):c.1541G>A (p.Arg514Gln)
|
rs146358872
|
0.00014
|
NM_001105206.3(LAMA4):c.4493G>A (p.Arg1498His)
|
rs147556641
|
0.00014
|
NM_001105206.3(LAMA4):c.910G>A (p.Gly304Arg)
|
rs191391557
|
0.00014
|
NM_001134363.3(RBM20):c.1633G>A (p.Val545Ile)
|
rs397516596
|
0.00014
|
NM_001134363.3(RBM20):c.2393C>T (p.Pro798Leu)
|
rs730880184
|
0.00014
|
NM_001134363.3(RBM20):c.3512C>T (p.Thr1171Met)
|
rs371181124
|
0.00014
|
NM_001232.4(CASQ2):c.338G>A (p.Ser113Asn)
|
rs199750975
|
0.00014
|
NM_001267550.2(TTN):c.103434C>A (p.Asp34478Glu)
|
rs376371272
|
0.00014
|
NM_001267550.2(TTN):c.103585_103599del (p.Glu34529_Glu34533del)
|
rs772286988
|
0.00014
|
NM_001267550.2(TTN):c.14639C>T (p.Ala4880Val)
|
rs373683445
|
0.00014
|
NM_001267550.2(TTN):c.23029G>A (p.Gly7677Arg)
|
rs367826445
|
0.00014
|
NM_001267550.2(TTN):c.2731G>A (p.Val911Ile)
|
rs141961878
|
0.00014
|
NM_001267550.2(TTN):c.66590G>A (p.Arg22197Gln)
|
rs374656017
|
0.00014
|
NM_001267550.2(TTN):c.75490G>A (p.Asp25164Asn)
|
rs192468365
|
0.00014
|
NM_001267550.2(TTN):c.80666A>G (p.Tyr26889Cys)
|
rs571328201
|
0.00014
|
NM_001267550.2(TTN):c.81517C>G (p.Pro27173Ala)
|
rs754325718
|
0.00014
|
NM_001267550.2(TTN):c.83870G>C (p.Arg27957Thr)
|
rs148067743
|
0.00014
|
NM_001267550.2(TTN):c.84977G>A (p.Arg28326Gln)
|
rs200843338
|
0.00014
|
NM_001267550.2(TTN):c.86002A>G (p.Ile28668Val)
|
rs72648225
|
0.00014
|
NM_001267550.2(TTN):c.96173G>A (p.Arg32058Gln)
|
rs374063064
|
0.00014
|
NM_001267550.2(TTN):c.9795A>C (p.Arg3265Ser)
|
rs141708467
|
0.00014
|
NM_001378454.1(ALMS1):c.10533G>T (p.Trp3511Cys)
|
rs761712682
|
0.00014
|
NM_001378454.1(ALMS1):c.5466T>A (p.His1822Gln)
|
rs201677365
|
0.00014
|
NM_001458.5(FLNC):c.1259G>A (p.Arg420Gln)
|
rs371410741
|
0.00014
|
NM_001458.5(FLNC):c.3242C>T (p.Ala1081Val)
|
rs200169573
|
0.00014
|
NM_001458.5(FLNC):c.4367G>C (p.Gly1456Ala)
|
rs775049569
|
0.00014
|
NM_001458.5(FLNC):c.5432G>A (p.Arg1811Gln)
|
rs369759751
|
0.00014
|
NM_001927.4(DES):c.893C>T (p.Ser298Leu)
|
rs62636491
|
0.00014
|
NM_001943.5(DSG2):c.430G>A (p.Glu144Lys)
|
rs199842209
|
0.00014
|
NM_002471.4(MYH6):c.1753G>A (p.Gly585Ser)
|
rs150415679
|
0.00014
|
NM_002471.4(MYH6):c.2611C>T (p.Arg871Cys)
|
rs376682837
|
0.00014
|
NM_002471.4(MYH6):c.346-2A>G
|
rs141187241
|
0.00014
|
NM_002890.3(RASA1):c.2470A>T (p.Ser824Cys)
|
rs151119180
|
0.00014
|
NM_003673.4(TCAP):c.337C>T (p.Leu113Phe)
|
rs372312912
|
0.00014
|
NM_004006.3(DMD):c.2260G>T (p.Gly754Cys)
|
rs369017141
|
0.00014
|
NM_004006.3(DMD):c.3805C>T (p.His1269Tyr)
|
rs151150099
|
0.00014
|
NM_004281.4(BAG3):c.1634C>G (p.Pro545Arg)
|
rs759348679
|
0.00014
|
NM_004415.4(DSP):c.1534A>G (p.Ile512Val)
|
rs202025438
|
0.00014
|
NM_004415.4(DSP):c.521G>T (p.Cys174Phe)
|
rs377507763
|
0.00014
|
NM_005188.4(CBL):c.2513G>T (p.Gly838Val)
|
rs144191570
|
0.00014
|
NM_005751.5(AKAP9):c.10741T>G (p.Cys3581Gly)
|
rs149819328
|
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_006440.5(TXNRD2):c.1036C>T (p.Arg346Trp)
|
rs61736941
|
0.00014
|
NM_006440.5(TXNRD2):c.199G>A (p.Val67Met)
|
rs372803804
|
0.00014
|
NM_006440.5(TXNRD2):c.259G>A (p.Val87Ile)
|
rs201658653
|
0.00014
|
NM_014000.3(VCL):c.2828_2829del (p.Pro943fs)
|
rs781036800
|
0.00014
|
NM_014476.6(PDLIM3):c.683C>T (p.Pro228Leu)
|
rs201185673
|
0.00014
|
NM_014908.4(DOLK):c.1438A>G (p.Ile480Val)
|
rs144209926
|
0.00014
|
NM_017636.4(TRPM4):c.742C>T (p.Arg248Cys)
|
rs373749900
|
0.00014
|
NM_017636.4(TRPM4):c.754C>T (p.Arg252Cys)
|
rs771728837
|
0.00014
|
NM_020778.5(ALPK3):c.175T>C (p.Ser59Pro)
|
rs750401200
|
0.00014
|
NM_020778.5(ALPK3):c.301A>G (p.Thr101Ala)
|
rs199645892
|
0.00014
|
NM_020778.5(ALPK3):c.3662C>T (p.Ala1221Val)
|
rs557058818
|
0.00014
|
NM_020778.5(ALPK3):c.3832C>T (p.Arg1278Trp)
|
rs201413329
|
0.00014
|
NM_020778.5(ALPK3):c.712C>T (p.Pro238Ser)
|
rs138094037
|
0.00014
|
NM_022436.3(ABCG5):c.226G>A (p.Val76Met)
|
rs368811625
|
0.00014
|
NM_032578.4(MYPN):c.845A>G (p.Glu282Gly)
|
rs146336815
|
0.00014
|
NM_000088.4(COL1A1):c.3233T>C (p.Val1078Ala)
|
rs767525556
|
0.00013
|
NM_000089.4(COL1A2):c.1464G>T (p.Glu488Asp)
|
rs148802548
|
0.00013
|
NM_000152.5(GAA):c.2381G>A (p.Arg794His)
|
rs200505871
|
0.00013
|
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp)
|
rs199472776
|
0.00013
|
NM_000335.5(SCN5A):c.5857G>A (p.Glu1953Lys)
|
rs397517956
|
0.00013
|
NM_000384.3(APOB):c.2611G>A (p.Ala871Thr)
|
rs144622446
|
0.00013
|
NM_000890.5(KCNJ5):c.439G>A (p.Glu147Lys)
|
rs148355179
|
0.00013
|
NM_001079802.2(FKTN):c.1337A>G (p.Asn446Ser)
|
rs374912618
|
0.00013
|
NM_001105206.3(LAMA4):c.1277T>C (p.Met426Thr)
|
rs200112094
|
0.00013
|
NM_001105206.3(LAMA4):c.1673C>T (p.Ala558Val)
|
rs137893207
|
0.00013
|
NM_001134363.3(RBM20):c.1129G>A (p.Gly377Ser)
|
rs923358109
|
0.00013
|
NM_001267550.2(TTN):c.103912C>T (p.Arg34638Cys)
|
rs374444254
|
0.00013
|
NM_001267550.2(TTN):c.12889T>G (p.Cys4297Gly)
|
rs377063950
|
0.00013
|
NM_001267550.2(TTN):c.23675T>C (p.Ile7892Thr)
|
rs201181445
|
0.00013
|
NM_001267550.2(TTN):c.3619C>A (p.Pro1207Thr)
|
rs373753003
|
0.00013
|
NM_001267550.2(TTN):c.62681G>T (p.Cys20894Phe)
|
rs370080086
|
0.00013
|
NM_001267550.2(TTN):c.7767G>T (p.Leu2589Phe)
|
rs372080212
|
0.00013
|
NM_001267550.2(TTN):c.81794C>T (p.Thr27265Ile)
|
rs371129005
|
0.00013
|
NM_001267550.2(TTN):c.82981C>T (p.Pro27661Ser)
|
rs201422612
|
0.00013
|
NM_001267550.2(TTN):c.92170G>C (p.Gly30724Arg)
|
rs370928582
|
0.00013
|
NM_001267550.2(TTN):c.92333C>G (p.Thr30778Arg)
|
rs201019681
|
0.00013
|
NM_001267550.2(TTN):c.95245G>A (p.Glu31749Lys)
|
rs139542862
|
0.00013
|
NM_001365276.2(TNXB):c.2981G>A (p.Arg994His)
|
rs372167278
|
0.00013
|
NM_001365276.2(TNXB):c.5491G>A (p.Val1831Met)
|
rs188124424
|
0.00013
|
NM_001365276.2(TNXB):c.8761G>A (p.Val2921Met)
|
rs529485424
|
0.00013
|
NM_001367624.2(ZNF469):c.11033G>A (p.Ser3678Asn)
|
rs781084356
|
0.00013
|
NM_001367624.2(ZNF469):c.4651G>A (p.Val1551Ile)
|
rs143740518
|
0.00013
|
NM_001367624.2(ZNF469):c.941C>T (p.Pro314Leu)
|
rs777666112
|
0.00013
|
NM_001378454.1(ALMS1):c.11213G>A (p.Arg3738Gln)
|
rs200378498
|
0.00013
|
NM_001378454.1(ALMS1):c.121G>C (p.Val41Leu)
|
rs201868751
|
0.00013
|
NM_001378454.1(ALMS1):c.12251G>T (p.Arg4084Met)
|
rs375314465
|
0.00013
|
NM_001378454.1(ALMS1):c.4394C>T (p.Thr1465Met)
|
rs200980776
|
0.00013
|
NM_001378454.1(ALMS1):c.6361G>C (p.Val2121Leu)
|
rs200368564
|
0.00013
|
NM_001378454.1(ALMS1):c.9880G>C (p.Asp3294His)
|
rs200441305
|
0.00013
|
NM_001458.5(FLNC):c.2297G>A (p.Arg766Gln)
|
rs369935650
|
0.00013
|
NM_001458.5(FLNC):c.4480C>T (p.Arg1494Trp)
|
rs779079128
|
0.00013
|
NM_002471.4(MYH6):c.2383C>T (p.Arg795Trp)
|
rs202120238
|
0.00013
|
NM_002880.4(RAF1):c.94A>G (p.Ile32Val)
|
rs372738063
|
0.00013
|
NM_004006.3(DMD):c.357+5G>A
|
rs778431187
|
0.00013
|
NM_004006.3(DMD):c.8312A>C (p.Asp2771Ala)
|
rs376720228
|
0.00013
|
NM_004415.4(DSP):c.251G>A (p.Arg84Gln)
|
rs373736975
|
0.00013
|
NM_004415.4(DSP):c.2552T>A (p.Leu851Gln)
|
rs111368396
|
0.00013
|
NM_004415.4(DSP):c.3562T>C (p.Tyr1188His)
|
rs141508330
|
0.00013
|
NM_005633.4(SOS1):c.3946C>G (p.His1316Asp)
|
rs371024396
|
0.00013
|
NM_005751.5(AKAP9):c.3934A>C (p.Thr1312Pro)
|
rs139337441
|
0.00013
|
NM_006073.4(TRDN):c.591A>C (p.Glu197Asp)
|
rs751143632
|
0.00013
|
NM_007078.3(LDB3):c.1253C>G (p.Pro418Arg)
|
rs141870580
|
0.00013
|
NM_014000.3(VCL):c.1403C>T (p.Thr468Met)
|
rs147957747
|
0.00013
|
NM_016599.5(MYOZ2):c.583T>A (p.Phe195Ile)
|
rs554299359
|
0.00013
|
NM_017636.4(TRPM4):c.3034G>A (p.Val1012Ile)
|
rs182262420
|
0.00013
|
NM_017636.4(TRPM4):c.856A>G (p.Thr286Ala)
|
rs151205002
|
0.00013
|
NM_020433.5(JPH2):c.1357C>T (p.Pro453Ser)
|
rs556886570
|
0.00013
|
NM_020778.5(ALPK3):c.1226A>G (p.Gln409Arg)
|
rs765187060
|
0.00013
|
NM_020778.5(ALPK3):c.1586C>T (p.Ala529Val)
|
rs202032410
|
0.00013
|
NM_020778.5(ALPK3):c.3647C>T (p.Thr1216Met)
|
rs767667447
|
0.00013
|
NM_022437.3(ABCG8):c.275G>A (p.Ser92Asn)
|
rs372921526
|
0.00013
|
NM_130468.4(CHST14):c.796T>C (p.Tyr266His)
|
rs377155775
|
0.00013
|
NM_000088.4(COL1A1):c.4030G>A (p.Asp1344Asn)
|
rs371547661
|
0.00012
|
NM_000116.5(TAFAZZIN):c.562G>A (p.Glu188Lys)
|
rs375663114
|
0.00012
|
NM_000335.5(SCN5A):c.1984G>T (p.Ala662Ser)
|
rs371313714
|
0.00012
|
NM_000335.5(SCN5A):c.2071G>A (p.Ala691Thr)
|
rs199473146
|
0.00012
|
NM_000384.3(APOB):c.1343C>T (p.Ala448Val)
|
rs148167725
|
0.00012
|
NM_000384.3(APOB):c.2258G>A (p.Gly753Glu)
|
rs148502464
|
0.00012
|
NM_000384.3(APOB):c.8173A>C (p.Thr2725Pro)
|
rs201461940
|
0.00012
|
NM_000527.5(LDLR):c.2101G>A (p.Gly701Ser)
|
rs368838866
|
0.00012
|
NM_000719.7(CACNA1C):c.5375A>G (p.Glu1792Gly)
|
rs374177870
|
0.00012
|
NM_001005242.3(PKP2):c.1379-2005A>G
|
rs397516995
|
0.00012
|
NM_001005242.3(PKP2):c.682G>A (p.Asp228Asn)
|
rs143954425
|
0.00012
|
NM_001035.3(RYR2):c.6280G>A (p.Gly2094Ser)
|
rs777365708
|
0.00012
|
NM_001134363.3(RBM20):c.1027C>T (p.His343Tyr)
|
rs112226602
|
0.00012
|
NM_001267550.2(TTN):c.1066G>C (p.Glu356Gln)
|
rs144531477
|
0.00012
|
NM_001267550.2(TTN):c.1399-3C>T
|
rs397517486
|
0.00012
|
NM_001267550.2(TTN):c.17818T>C (p.Cys5940Arg)
|
rs374882815
|
0.00012
|
NM_001267550.2(TTN):c.40973A>G (p.Lys13658Arg)
|
rs184713215
|
0.00012
|
NM_001267550.2(TTN):c.48683G>A (p.Arg16228His)
|
rs368806005
|
0.00012
|
NM_001267550.2(TTN):c.55378A>G (p.Thr18460Ala)
|
rs727503600
|
0.00012
|
NM_001267550.2(TTN):c.59236G>A (p.Gly19746Ser)
|
rs372802352
|
0.00012
|
NM_001267550.2(TTN):c.69338G>A (p.Arg23113Gln)
|
rs370890454
|
0.00012
|
NM_001267550.2(TTN):c.71911T>C (p.Trp23971Arg)
|
rs373717147
|
0.00012
|
NM_001267550.2(TTN):c.73303C>T (p.Arg24435Cys)
|
rs200028088
|
0.00012
|
NM_001267550.2(TTN):c.80160T>G (p.Ile26720Met)
|
rs376363284
|
0.00012
|
NM_001267550.2(TTN):c.90227C>T (p.Thr30076Met)
|
rs201998913
|
0.00012
|
NM_001267550.2(TTN):c.90691C>T (p.Pro30231Ser)
|
rs373722546
|
0.00012
|
NM_001267550.2(TTN):c.91399C>T (p.Arg30467Cys)
|
rs775591945
|
0.00012
|
NM_001365276.2(TNXB):c.3038G>A (p.Arg1013His)
|
rs200322894
|
0.00012
|
NM_001365276.2(TNXB):c.9083G>A (p.Arg3028His)
|
rs189416175
|
0.00012
|
NM_001365276.2(TNXB):c.9455G>C (p.Ser3152Thr)
|
rs533227887
|
0.00012
|
NM_001367624.2(ZNF469):c.10354G>A (p.Gly3452Ser)
|
rs548646578
|
0.00012
|
NM_001367624.2(ZNF469):c.4316C>T (p.Thr1439Met)
|
rs752630858
|
0.00012
|
NM_001367624.2(ZNF469):c.4675G>A (p.Glu1559Lys)
|
rs376951144
|
0.00012
|
NM_001378454.1(ALMS1):c.11611A>T (p.Asn3871Tyr)
|
rs368957150
|
0.00012
|
NM_001378454.1(ALMS1):c.11689G>A (p.Gly3897Ser)
|
rs187887110
|
0.00012
|
NM_001458.5(FLNC):c.5426C>T (p.Thr1809Met)
|
rs369118592
|
0.00012
|
NM_001458.5(FLNC):c.6689G>A (p.Arg2230His)
|
rs376035195
|
0.00012
|
NM_001999.4(FBN2):c.6077C>T (p.Ser2026Phe)
|
rs139668142
|
0.00012
|
NM_002880.4(RAF1):c.1721A>G (p.Tyr574Cys)
|
rs370242565
|
0.00012
|
NM_002890.3(RASA1):c.412C>T (p.Pro138Ser)
|
rs775315018
|
0.00012
|
NM_004006.3(DMD):c.10643C>T (p.Thr3548Ile)
|
rs139492098
|
0.00012
|
NM_004006.3(DMD):c.9479G>A (p.Arg3160His)
|
rs771392678
|
0.00012
|
NM_004415.4(DSP):c.3600T>G (p.Asn1200Lys)
|
rs202049575
|
0.00012
|
NM_004588.5(SCN2B):c.250C>T (p.Arg84Cys)
|
rs760669515
|
0.00012
|
NM_005472.5(KCNE3):c.26C>T (p.Thr9Ile)
|
rs139040374
|
0.00012
|
NM_005477.3(HCN4):c.3220C>T (p.Leu1074Phe)
|
rs200399862
|
0.00012
|
NM_006440.5(TXNRD2):c.623G>A (p.Ser208Asn)
|
rs201531690
|
0.00012
|
NM_016203.4(PRKAG2):c.1267C>A (p.Gln423Lys)
|
rs147349145
|
0.00012
|
NM_016203.4(PRKAG2):c.1496A>G (p.Gln499Arg)
|
rs781741013
|
0.00012
|
NM_018699.4(PRDM5):c.248G>A (p.Arg83His)
|
rs201945549
|
0.00012
|
NM_020778.5(ALPK3):c.3704C>T (p.Ala1235Val)
|
rs200282192
|
0.00012
|
NM_020778.5(ALPK3):c.3818-3C>T
|
rs758948501
|
0.00012
|
NM_032578.4(MYPN):c.3913A>G (p.Met1305Val)
|
rs730880170
|
0.00012
|
NM_000020.3(ACVRL1):c.890A>G (p.His297Arg)
|
rs139380315
|
0.00011
|
NM_000088.4(COL1A1):c.144T>A (p.His48Gln)
|
rs374065372
|
0.00011
|
NM_000089.4(COL1A2):c.2687C>T (p.Pro896Leu)
|
rs202068380
|
0.00011
|
NM_000089.4(COL1A2):c.2905G>A (p.Val969Met)
|
rs765448220
|
0.00011
|
NM_000117.3(EMD):c.598T>C (p.Trp200Arg)
|
rs374981936
|
0.00011
|
NM_000214.3(JAG1):c.19C>T (p.Arg7Cys)
|
rs563232654
|
0.00011
|
NM_000214.3(JAG1):c.2666G>A (p.Arg889Gln)
|
rs149419694
|
0.00011
|
NM_000214.3(JAG1):c.3329A>C (p.Asn1110Thr)
|
rs150811951
|
0.00011
|
NM_000214.3(JAG1):c.3346C>T (p.Arg1116Trp)
|
rs377723772
|
0.00011
|
NM_000219.6(KCNE1):c.23C>T (p.Ala8Val)
|
rs199473348
|
0.00011
|
NM_000238.4(KCNH2):c.3089C>T (p.Pro1030Leu)
|
rs904066540
|
0.00011
|
NM_000256.3(MYBPC3):c.1445C>T (p.Ala482Val)
|
rs370285346
|
0.00011
|
NM_000256.3(MYBPC3):c.2011G>A (p.Val671Ile)
|
rs876657869
|
0.00011
|
NM_000256.3(MYBPC3):c.2176C>T (p.Arg726Cys)
|
rs752200396
|
0.00011
|
NM_000256.3(MYBPC3):c.3323A>C (p.Lys1108Thr)
|
rs397516015
|
0.00011
|
NM_000256.3(MYBPC3):c.598A>G (p.Ser200Gly)
|
rs370554185
|
0.00011
|
NM_000257.4(MYH7):c.3982G>A (p.Ala1328Thr)
|
rs372727092
|
0.00011
|
NM_000257.4(MYH7):c.5071G>A (p.Val1691Met)
|
rs45464193
|
0.00011
|
NM_000335.5(SCN5A):c.1019G>A (p.Arg340Gln)
|
rs191009474
|
0.00011
|
NM_000335.5(SCN5A):c.1333C>G (p.His445Asp)
|
rs199473112
|
0.00011
|
NM_000384.3(APOB):c.4111G>A (p.Ala1371Thr)
|
rs780170292
|
0.00011
|
NM_000384.3(APOB):c.574G>A (p.Val192Ile)
|
rs200662943
|
0.00011
|
NM_000719.7(CACNA1C):c.4942G>A (p.Ala1648Thr)
|
rs370432385
|
0.00011
|
NM_000722.4(CACNA2D1):c.897G>C (p.Gln299His)
|
rs141238313
|
0.00011
|
NM_001005242.3(PKP2):c.1740G>T (p.Glu580Asp)
|
rs370219248
|
0.00011
|
NM_001005242.3(PKP2):c.1930T>C (p.Ser644Pro)
|
rs144601090
|
0.00011
|
NM_001035.3(RYR2):c.10700G>A (p.Arg3567His)
|
rs577371071
|
0.00011
|
NM_001035.3(RYR2):c.4096A>G (p.Thr1366Ala)
|
rs369982130
|
0.00011
|
NM_001035.3(RYR2):c.6793-3C>T
|
rs372314209
|
0.00011
|
NM_001035.3(RYR2):c.9655G>A (p.Val3219Met)
|
rs371147744
|
0.00011
|
NM_001077653.2(TBX20):c.457G>A (p.Val153Ile)
|
rs776152314
|
0.00011
|
NM_001105206.3(LAMA4):c.3283-3C>G
|
rs374159760
|
0.00011
|
NM_001105206.3(LAMA4):c.5345G>A (p.Arg1782His)
|
rs782638314
|
0.00011
|
NM_001105206.3(LAMA4):c.952A>G (p.Ile318Val)
|
rs141372605
|
0.00011
|
NM_001134363.3(RBM20):c.3044C>T (p.Thr1015Ile)
|
rs183770014
|
0.00011
|
NM_001134363.3(RBM20):c.544C>A (p.Pro182Thr)
|
rs397516622
|
0.00011
|
NM_001148.6(ANK2):c.11641A>G (p.Thr3881Ala)
|
rs373688313
|
0.00011
|
NM_001159699.2(FHL1):c.787G>A (p.Asp263Asn)
|
rs754308516
|
0.00011
|
NM_001267550.2(TTN):c.100226G>A (p.Cys33409Tyr)
|
rs201112096
|
0.00011
|
NM_001267550.2(TTN):c.106442A>G (p.Lys35481Arg)
|
rs200716018
|
0.00011
|
NM_001267550.2(TTN):c.18379T>G (p.Cys6127Gly)
|
rs370812788
|
0.00011
|
NM_001267550.2(TTN):c.227G>C (p.Gly76Ala)
|
rs138750421
|
0.00011
|
NM_001267550.2(TTN):c.3940A>G (p.Met1314Val)
|
rs764249439
|
0.00011
|
NM_001267550.2(TTN):c.45247C>T (p.Arg15083Trp)
|
rs199834143
|
0.00011
|
NM_001267550.2(TTN):c.54685G>A (p.Val18229Met)
|
rs116142642
|
0.00011
|
NM_001267550.2(TTN):c.56693G>A (p.Arg18898His)
|
rs572453785
|
0.00011
|
NM_001267550.2(TTN):c.59489A>G (p.Lys19830Arg)
|
rs764259290
|
0.00011
|
NM_001267550.2(TTN):c.66703G>A (p.Val22235Ile)
|
rs751354601
|
0.00011
|
NM_001267550.2(TTN):c.68161G>A (p.Glu22721Lys)
|
rs374492812
|
0.00011
|
NM_001267550.2(TTN):c.7339G>A (p.Val2447Met)
|
rs779064962
|
0.00011
|
NM_001267550.2(TTN):c.7618C>T (p.Arg2540Cys)
|
rs368574470
|
0.00011
|
NM_001267550.2(TTN):c.86911G>A (p.Gly28971Arg)
|
rs368921501
|
0.00011
|
NM_001267550.2(TTN):c.88123C>T (p.Arg29375Cys)
|
rs368439674
|
0.00011
|
NM_001267550.2(TTN):c.91434A>C (p.Glu30478Asp)
|
rs373900294
|
0.00011
|
NM_001267550.2(TTN):c.93214C>T (p.Arg31072Cys)
|
rs368932767
|
0.00011
|
NM_001267550.2(TTN):c.97198C>A (p.Pro32400Thr)
|
rs373876117
|
0.00011
|
NM_001267550.2(TTN):c.9811T>G (p.Ser3271Ala)
|
rs556720151
|
0.00011
|
NM_001267550.2(TTN):c.99982G>A (p.Val33328Met)
|
rs372302484
|
0.00011
|
NM_001365276.2(TNXB):c.10457C>T (p.Thr3486Met)
|
rs368518664
|
0.00011
|
NM_001365276.2(TNXB):c.2390G>A (p.Arg797Gln)
|
rs201123945
|
0.00011
|
NM_001365276.2(TNXB):c.9779C>T (p.Pro3260Leu)
|
rs557119336
|
0.00011
|
NM_001367624.2(ZNF469):c.1909C>T (p.Pro637Ser)
|
rs997748968
|
0.00011
|
NM_001367624.2(ZNF469):c.5707C>T (p.Arg1903Cys)
|
rs757657013
|
0.00011
|
NM_001367624.2(ZNF469):c.7817A>C (p.Gln2606Pro)
|
rs529250336
|
0.00011
|
NM_001378454.1(ALMS1):c.12114+4C>T
|
rs373191489
|
0.00011
|
NM_001378454.1(ALMS1):c.12151C>T (p.Arg4051Cys)
|
rs201874056
|
0.00011
|
NM_001378454.1(ALMS1):c.1976C>T (p.Thr659Met)
|
rs199682595
|
0.00011
|
NM_001378454.1(ALMS1):c.2309C>T (p.Pro770Leu)
|
rs187132771
|
0.00011
|
NM_001378454.1(ALMS1):c.5842A>G (p.Ser1948Gly)
|
rs367728446
|
0.00011
|
NM_001378454.1(ALMS1):c.5990A>G (p.Lys1997Arg)
|
rs150331660
|
0.00011
|
NM_001378454.1(ALMS1):c.8530C>T (p.Leu2844Phe)
|
rs920714816
|
0.00011
|
NM_001378454.1(ALMS1):c.9359A>C (p.Lys3120Thr)
|
rs375038066
|
0.00011
|
NM_001378969.1(KCND3):c.1702C>T (p.Arg568Cys)
|
rs144120746
|
0.00011
|
NM_001458.5(FLNC):c.1094A>G (p.Glu365Gly)
|
rs752027721
|
0.00011
|
NM_001458.5(FLNC):c.3853G>A (p.Gly1285Ser)
|
rs200928780
|
0.00011
|
NM_001458.5(FLNC):c.5500C>T (p.His1834Tyr)
|
rs377141822
|
0.00011
|
NM_001927.4(DES):c.407T>A (p.Leu136His)
|
rs397516695
|
0.00011
|
NM_002471.4(MYH6):c.2929-3C>T
|
rs376752266
|
0.00011
|
NM_002471.4(MYH6):c.5519A>G (p.Lys1840Arg)
|
rs373629059
|
0.00011
|
NM_002471.4(MYH6):c.7G>A (p.Asp3Asn)
|
rs371667049
|
0.00011
|
NM_002890.3(RASA1):c.2725A>G (p.Ile909Val)
|
rs113316011
|
0.00011
|
NM_003476.5(CSRP3):c.544G>C (p.Gly182Arg)
|
rs111868331
|
0.00011
|
NM_003480.4(MFAP5):c.296G>A (p.Arg99Gln)
|
rs756494536
|
0.00011
|
NM_003803.4(MYOM1):c.3223G>A (p.Val1075Met)
|
rs371066861
|
0.00011
|
NM_004006.3(DMD):c.2183T>C (p.Ile728Thr)
|
rs192004962
|
0.00011
|
NM_004006.3(DMD):c.295A>G (p.Ile99Val)
|
rs149428656
|
0.00011
|
NM_004281.4(BAG3):c.1321A>G (p.Asn441Asp)
|
rs201181493
|
0.00011
|
NM_004281.4(BAG3):c.415C>T (p.Arg139Trp)
|
rs556465096
|
0.00011
|
NM_004281.4(BAG3):c.508C>T (p.Arg170Trp)
|
rs200479768
|
0.00011
|
NM_004387.4(NKX2-5):c.885C>G (p.Phe295Leu)
|
rs150581386
|
0.00011
|
NM_004415.4(DSP):c.6566G>A (p.Arg2189Gln)
|
rs766933370
|
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.6676G>A (p.Val2226Ile)
|
rs561591139
|
0.00011
|
NM_006073.4(TRDN):c.365A>G (p.Asp122Gly)
|
rs749353413
|
0.00011
|
NM_006440.5(TXNRD2):c.1177G>A (p.Asp393Asn)
|
rs369142382
|
0.00011
|
NM_007078.3(LDB3):c.404C>A (p.Thr135Asn)
|
rs1004651681
|
0.00011
|
NM_015141.4(GPD1L):c.839C>T (p.Ala280Val)
|
rs72552291
|
0.00011
|
NM_016938.5(EFEMP2):c.1065C>A (p.Ser355Arg)
|
rs377646143
|
0.00011
|
NM_017636.4(TRPM4):c.1139C>T (p.Ala380Val)
|
rs150894548
|
0.00011
|
NM_017636.4(TRPM4):c.2289C>G (p.Cys763Trp)
|
rs200760537
|
0.00011
|
NM_017636.4(TRPM4):c.338G>A (p.Arg113His)
|
rs149335121
|
0.00011
|
NM_017636.4(TRPM4):c.790G>A (p.Val264Met)
|
rs144767624
|
0.00011
|
NM_017946.4(FKBP14):c.144G>A (p.Met48Ile)
|
rs141850025
|
0.00011
|
NM_020778.5(ALPK3):c.1036A>C (p.Ile346Leu)
|
rs201336763
|
0.00011
|
NM_020778.5(ALPK3):c.183-5C>T
|
rs758923137
|
0.00011
|
NM_020778.5(ALPK3):c.2701G>A (p.Glu901Lys)
|
rs199572606
|
0.00011
|
NM_020778.5(ALPK3):c.4448A>G (p.Lys1483Arg)
|
rs367667489
|
0.00011
|
NM_020778.5(ALPK3):c.4600G>A (p.Glu1534Lys)
|
rs765401924
|
0.00011
|
NM_020778.5(ALPK3):c.62G>T (p.Gly21Val)
|
rs1415475314
|
0.00011
|
NM_021167.5(GATAD1):c.512G>A (p.Arg171Lys)
|
rs540654499
|
0.00011
|
NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu)
|
rs143031195
|
0.00011
|
NM_024301.5(FKRP):c.11C>G (p.Thr4Ser)
|
rs771333733
|
0.00011
|
NM_024301.5(FKRP):c.613C>G (p.Arg205Gly)
|
rs753297636
|
0.00011
|
NM_032578.4(MYPN):c.1012C>T (p.Arg338Cys)
|
rs140037748
|
0.00011
|
NM_032578.4(MYPN):c.3848G>A (p.Arg1283His)
|
rs372512501
|
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_144573.4(NEXN):c.1955A>G (p.Tyr652Cys)
|
rs137853197
|
0.00011
|
NM_144573.4(NEXN):c.902T>A (p.Ile301Asn)
|
rs373878384
|
0.00011
|
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu)
|
rs60890628
|
0.00011
|
NM_170707.4(LMNA):c.1978A>G (p.Asn660Asp)
|
rs374926367
|
0.00011
|
NM_181486.4(TBX5):c.1151C>T (p.Ala384Val)
|
rs530882236
|
0.00011
|
NM_000214.3(JAG1):c.1115C>T (p.Ser372Phe)
|
rs772669312
|
0.00010
|
NM_000238.4(KCNH2):c.2681G>A (p.Arg894His)
|
rs199473668
|
0.00010
|
NM_000238.4(KCNH2):c.2944G>A (p.Asp982Asn)
|
rs569452580
|
0.00010
|
NM_000256.3(MYBPC3):c.50G>A (p.Arg17Gln)
|
rs374630007
|
0.00010
|
NM_000256.3(MYBPC3):c.529C>T (p.Arg177Cys)
|
rs193922385
|
0.00010
|
NM_000257.4(MYH7):c.5786C>T (p.Thr1929Met)
|
rs730880918
|
0.00010
|
NM_000257.4(MYH7):c.976G>C (p.Ala326Pro)
|
rs372731424
|
0.00010
|
NM_000335.5(SCN5A):c.1597C>T (p.Arg533Cys)
|
rs775576991
|
0.00010
|
NM_000371.4(TTR):c.140A>G (p.Asn47Ser)
|
rs145551875
|
0.00010
|
NM_000384.3(APOB):c.1316G>A (p.Arg439Gln)
|
rs61742990
|
0.00010
|
NM_000384.3(APOB):c.434C>T (p.Pro145Leu)
|
rs181737266
|
0.00010
|
NM_000384.3(APOB):c.499C>T (p.Pro167Ser)
|
rs139842930
|
0.00010
|
NM_000384.3(APOB):c.5722G>A (p.Asp1908Asn)
|
rs751368655
|
0.00010
|
NM_000719.7(CACNA1C):c.4233-4C>T
|
rs769538757
|
0.00010
|
NM_000719.7(CACNA1C):c.865C>A (p.Leu289Ile)
|
rs770311259
|
0.00010
|
NM_000722.4(CACNA2D1):c.590G>A (p.Arg197His)
|
rs375189396
|
0.00010
|
NM_001018005.2(TPM1):c.773-3T>C
|
rs113759732
|
0.00010
|
NM_001035.3(RYR2):c.13267A>C (p.Lys4423Gln)
|
rs376908332
|
0.00010
|
NM_001035.3(RYR2):c.13957-5C>G
|
rs189772599
|
0.00010
|
NM_001035.3(RYR2):c.2357G>A (p.Gly786Asp)
|
rs182778119
|
0.00010
|
NM_001035.3(RYR2):c.3883A>G (p.Ser1295Gly)
|
rs200574919
|
0.00010
|
NM_001035.3(RYR2):c.8590+4A>G
|
rs778964264
|
0.00010
|
NM_001035.3(RYR2):c.9190G>A (p.Ala3064Thr)
|
rs375482798
|
0.00010
|
NM_001103.4(ACTN2):c.1192C>T (p.Arg398Cys)
|
rs148189507
|
0.00010
|
NM_001103.4(ACTN2):c.690T>A (p.Asp230Glu)
|
rs139489232
|
0.00010
|
NM_001105206.3(LAMA4):c.1390C>G (p.His464Asp)
|
rs151119304
|
0.00010
|
NM_001105206.3(LAMA4):c.1551+4C>T
|
rs201209516
|
0.00010
|
NM_001105206.3(LAMA4):c.3594C>A (p.Phe1198Leu)
|
rs530201164
|
0.00010
|
NM_001134363.3(RBM20):c.1418C>T (p.Ala473Val)
|
rs727503387
|
0.00010
|
NM_001134363.3(RBM20):c.304C>T (p.Arg102Trp)
|
rs794729160
|
0.00010
|
NM_001148.6(ANK2):c.961C>T (p.Arg321Trp)
|
rs753032598
|
0.00010
|
NM_001232.4(CASQ2):c.1186G>A (p.Asp396Asn)
|
rs368007942
|
0.00010
|
NM_001267550.2(TTN):c.102524G>A (p.Arg34175Gln)
|
rs201954720
|
0.00010
|
NM_001267550.2(TTN):c.104522G>A (p.Arg34841His)
|
rs373709706
|
0.00010
|
NM_001267550.2(TTN):c.14309A>G (p.Tyr4770Cys)
|
rs371552518
|
0.00010
|
NM_001267550.2(TTN):c.18295C>T (p.Leu6099Phe)
|
rs370109572
|
0.00010
|
NM_001267550.2(TTN):c.4228G>C (p.Val1410Leu)
|
rs576593161
|
0.00010
|
NM_001267550.2(TTN):c.44323G>A (p.Val14775Met)
|
rs540115992
|
0.00010
|
NM_001267550.2(TTN):c.63116A>C (p.Lys21039Thr)
|
rs886038878
|
0.00010
|
NM_001267550.2(TTN):c.65672C>T (p.Pro21891Leu)
|
rs397517662
|
0.00010
|
NM_001267550.2(TTN):c.67445G>A (p.Arg22482Gln)
|
rs200146608
|
0.00010
|
NM_001267550.2(TTN):c.67808C>T (p.Ala22603Val)
|
rs199583938
|
0.00010
|
NM_001267550.2(TTN):c.6927T>A (p.Asn2309Lys)
|
rs147580120
|
0.00010
|
NM_001267550.2(TTN):c.73783G>A (p.Ala24595Thr)
|
rs543275318
|
0.00010
|
NM_001267550.2(TTN):c.75914C>T (p.Pro25305Leu)
|
rs142453163
|
0.00010
|
NM_001267550.2(TTN):c.76738A>G (p.Thr25580Ala)
|
rs371711135
|
0.00010
|
NM_001267550.2(TTN):c.79861A>G (p.Thr26621Ala)
|
rs372537578
|
0.00010
|
NM_001267550.2(TTN):c.80983G>A (p.Glu26995Lys)
|
rs397517719
|
0.00010
|
NM_001267550.2(TTN):c.8185G>A (p.Glu2729Lys)
|
rs763702243
|
0.00010
|
NM_001267550.2(TTN):c.86471C>T (p.Thr28824Ile)
|
rs200709344
|
0.00010
|
NM_001267550.2(TTN):c.91384C>T (p.Arg30462Trp)
|
rs373623340
|
0.00010
|
NM_001365276.2(TNXB):c.10369G>T (p.Val3457Leu)
|
rs199623625
|
0.00010
|
NM_001365276.2(TNXB):c.5666T>C (p.Val1889Ala)
|
rs575571619
|
0.00010
|
NM_001365276.2(TNXB):c.961T>C (p.Cys321Arg)
|
rs370616787
|
0.00010
|
NM_001367624.2(ZNF469):c.10185G>C (p.Glu3395Asp)
|
rs149732077
|
0.00010
|
NM_001367624.2(ZNF469):c.6809C>A (p.Ser2270Tyr)
|
rs273585624
|
0.00010
|
NM_001367624.2(ZNF469):c.7931G>A (p.Arg2644Gln)
|
rs281865152
|
0.00010
|
NM_001367624.2(ZNF469):c.8654C>T (p.Pro2885Leu)
|
rs886052413
|
0.00010
|
NM_001378454.1(ALMS1):c.11033G>A (p.Arg3678Gln)
|
rs371007945
|
0.00010
|
NM_001378454.1(ALMS1):c.12086T>C (p.Leu4029Pro)
|
rs372910832
|
0.00010
|
NM_001378454.1(ALMS1):c.1433-3T>C
|
rs367710998
|
0.00010
|
NM_001378454.1(ALMS1):c.1867T>C (p.Ser623Pro)
|
rs767987501
|
0.00010
|
NM_001378454.1(ALMS1):c.2152C>T (p.His718Tyr)
|
rs199572177
|
0.00010
|
NM_001378454.1(ALMS1):c.3103C>T (p.Pro1035Ser)
|
rs531648685
|
0.00010
|
NM_001458.5(FLNC):c.1102G>A (p.Val368Met)
|
rs781718076
|
0.00010
|
NM_001458.5(FLNC):c.31G>A (p.Gly11Ser)
|
rs370512642
|
0.00010
|
NM_001458.5(FLNC):c.4921G>A (p.Val1641Ile)
|
rs575068215
|
0.00010
|
NM_001458.5(FLNC):c.7289C>T (p.Ala2430Val)
|
rs200516164
|
0.00010
|
NM_002230.4(JUP):c.1565C>T (p.Ala522Val)
|
rs1060502679
|
0.00010
|
NM_002471.4(MYH6):c.1347G>T (p.Glu449Asp)
|
rs142059069
|
0.00010
|
NM_002471.4(MYH6):c.161G>A (p.Arg54Gln)
|
rs727503239
|
0.00010
|
NM_002471.4(MYH6):c.3346C>A (p.Arg1116Ser)
|
rs372446459
|
0.00010
|
NM_002471.4(MYH6):c.4264C>T (p.Arg1422Trp)
|
rs200465713
|
0.00010
|
NM_002471.4(MYH6):c.941T>C (p.Val314Ala)
|
rs367952105
|
0.00010
|
NM_002890.3(RASA1):c.2773A>G (p.Ile925Val)
|
rs140786299
|
0.00010
|
NM_003280.3(TNNC1):c.435C>A (p.Asp145Glu)
|
rs267607124
|
0.00010
|
NM_003673.4(TCAP):c.223G>A (p.Gly75Ser)
|
rs753744791
|
0.00010
|
NM_004006.3(DMD):c.3548G>C (p.Arg1183Thr)
|
rs374993642
|
0.00010
|
NM_004415.4(DSP):c.3146C>T (p.Ser1049Leu)
|
rs751361395
|
0.00010
|
NM_004415.4(DSP):c.3616T>A (p.Leu1206Ile)
|
rs151115778
|
0.00010
|
NM_004415.4(DSP):c.3922C>T (p.Arg1308Trp)
|
rs144641271
|
0.00010
|
NM_004444.5(EPHB4):c.236C>T (p.Pro79Leu)
|
rs542089930
|
0.00010
|
NM_004982.4(KCNJ8):c.821G>A (p.Arg274His)
|
rs149127157
|
0.00010
|
NM_005472.5(KCNE3):c.158G>A (p.Arg53His)
|
rs565287436
|
0.00010
|
NM_005633.4(SOS1):c.3418T>A (p.Leu1140Ile)
|
rs375550588
|
0.00010
|
NM_005751.5(AKAP9):c.5035C>T (p.Arg1679Cys)
|
rs200044616
|
0.00010
|
NM_005751.5(AKAP9):c.9970G>A (p.Ala3324Thr)
|
rs182048899
|
0.00010
|
NM_006073.4(TRDN):c.125C>T (p.Thr42Met)
|
rs371627659
|
0.00010
|
NM_006073.4(TRDN):c.2093A>G (p.Asn698Ser)
|
rs377368177
|
0.00010
|
NM_006440.5(TXNRD2):c.236G>A (p.Arg79Gln)
|
rs373979810
|
0.00010
|
NM_014000.3(VCL):c.829C>A (p.Leu277Met)
|
rs71579353
|
0.00010
|
NM_014908.4(DOLK):c.379G>A (p.Val127Met)
|
rs752310792
|
0.00010
|
NM_014908.4(DOLK):c.898C>T (p.Leu300Phe)
|
rs371529625
|
0.00010
|
NM_017636.4(TRPM4):c.1324C>T (p.Arg442Cys)
|
rs148867331
|
0.00010
|
NM_017636.4(TRPM4):c.2953+5G>C
|
rs200998908
|
0.00010
|
NM_020433.5(JPH2):c.1732C>A (p.Pro578Thr)
|
rs746846724
|
0.00010
|
NM_020433.5(JPH2):c.1896G>C (p.Glu632Asp)
|
rs367563723
|
0.00010
|
NM_020778.4(ALPK3):c.487A>G (p.Arg163Gly)
|
rs1008637055
|
0.00010
|
NM_020778.5(ALPK3):c.221A>C (p.Glu74Ala)
|
rs533505673
|
0.00010
|
NM_024301.5(FKRP):c.731G>A (p.Arg244His)
|
rs764641619
|
0.00010
|
NM_024422.6(DSC2):c.1844C>A (p.Ser615Tyr)
|
rs756304120
|
0.00010
|
NM_032578.4(MYPN):c.251A>G (p.Asn84Ser)
|
rs768968410
|
0.00010
|
NM_032578.4(MYPN):c.259C>G (p.Pro87Ala)
|
rs376945733
|
0.00010
|
NM_170707.4(LMNA):c.1202G>A (p.Arg401His)
|
rs141490569
|
0.00010
|
NM_000039.3(APOA1):c.448C>A (p.Leu150Ile)
|
rs911528468
|
0.00009
|
NM_000214.3(JAG1):c.2350A>G (p.Asn784Asp)
|
rs760470297
|
0.00009
|
NM_000238.4(KCNH2):c.865G>A (p.Glu289Lys)
|
rs199472880
|
0.00009
|
NM_000256.3(MYBPC3):c.1565C>T (p.Ala522Val)
|
rs370362589
|
0.00009
|
NM_000256.3(MYBPC3):c.3412C>T (p.Arg1138Cys)
|
rs377171707
|
0.00009
|
NM_000256.3(MYBPC3):c.640G>A (p.Asp214Asn)
|
rs769167548
|
0.00009
|
NM_000257.4(MYH7):c.2359C>T (p.Arg787Cys)
|
rs145677314
|
0.00009
|
NM_000257.4(MYH7):c.4423C>T (p.Arg1475Cys)
|
rs139646545
|
0.00009
|
NM_000257.4(MYH7):c.5287G>A (p.Ala1763Thr)
|
rs727504355
|
0.00009
|
NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr)
|
rs200939753
|
0.00009
|
NM_000335.5(SCN5A):c.1889C>T (p.Thr630Met)
|
rs777061524
|
0.00009
|
NM_000335.5(SCN5A):c.2066G>A (p.Arg689His)
|
rs199473145
|
0.00009
|
NM_000335.5(SCN5A):c.5035G>A (p.Ala1679Thr)
|
rs199473294
|
0.00009
|
NM_000384.3(APOB):c.10295A>G (p.Gln3432Arg)
|
rs759043889
|
0.00009
|
NM_000384.3(APOB):c.10402A>G (p.Met3468Val)
|
rs149887185
|
0.00009
|
NM_000384.3(APOB):c.11233G>A (p.Val3745Ile)
|
rs147564959
|
0.00009
|
NM_000384.3(APOB):c.11816G>A (p.Gly3939Asp)
|
rs142828185
|
0.00009
|
NM_000384.3(APOB):c.12038T>C (p.Met4013Thr)
|
rs144922840
|
0.00009
|
NM_000384.3(APOB):c.3972G>T (p.Lys1324Asn)
|
rs775070656
|
0.00009
|
NM_000432.4(MYL2):c.374C>T (p.Thr125Met)
|
rs375667565
|
0.00009
|
NM_000527.5(LDLR):c.907C>T (p.Arg303Trp)
|
rs151207122
|
0.00009
|
NM_000719.7(CACNA1C):c.5138A>G (p.Asp1713Gly)
|
rs769297492
|
0.00009
|
NM_000722.4(CACNA2D1):c.1066A>G (p.Lys356Glu)
|
rs201682618
|
0.00009
|
NM_000722.4(CACNA2D1):c.1375G>C (p.Val459Leu)
|
rs765696205
|
0.00009
|
NM_000890.5(KCNJ5):c.1151C>G (p.Pro384Arg)
|
rs148307402
|
0.00009
|
NM_001005242.3(PKP2):c.2302G>A (p.Asp768Asn)
|
rs200947767
|
0.00009
|
NM_001010874.5(TECRL):c.-1A>T
|
rs144018505
|
0.00009
|
NM_001018005.2(TPM1):c.829G>A (p.Ala277Thr)
|
rs149659674
|
0.00009
|
NM_001035.3(RYR2):c.10680T>A (p.His3560Gln)
|
rs727503404
|
0.00009
|
NM_001035.3(RYR2):c.2828T>C (p.Leu943Ser)
|
rs373665895
|
0.00009
|
NM_001035.3(RYR2):c.4273A>G (p.Thr1425Ala)
|
rs776046135
|
0.00009
|
NM_001035.3(RYR2):c.7094A>G (p.Asn2365Ser)
|
rs369774984
|
0.00009
|
NM_001035.3(RYR2):c.7511C>T (p.Thr2504Met)
|
rs769219555
|
0.00009
|
NM_001037.5(SCN1B):c.457G>A (p.Asp153Asn)
|
rs72550247
|
0.00009
|
NM_001040151.2(SCN3B):c.413C>T (p.Thr138Met)
|
rs761964055
|
0.00009
|
NM_001077653.2(TBX20):c.418G>A (p.Val140Met)
|
rs766745923
|
0.00009
|
NM_001103.4(ACTN2):c.2540C>T (p.Ala847Val)
|
rs370569935
|
0.00009
|
NM_001105206.3(LAMA4):c.3817T>C (p.Phe1273Leu)
|
rs781966924
|
0.00009
|
NM_001105206.3(LAMA4):c.4742C>G (p.Pro1581Arg)
|
rs138830179
|
0.00009
|
NM_001114753.3(ENG):c.1133C>T (p.Ala378Val)
|
rs143054595
|
0.00009
|
NM_001134363.3(RBM20):c.3595G>A (p.Glu1199Lys)
|
rs777768807
|
0.00009
|
NM_001232.4(CASQ2):c.235C>T (p.Leu79Phe)
|
rs771298193
|
0.00009
|
NM_001232.4(CASQ2):c.80C>T (p.Thr27Ile)
|
rs773237428
|
0.00009
|
NM_001232.4(CASQ2):c.898G>A (p.Asp300Asn)
|
rs376147306
|
0.00009
|
NM_001267550.2(TTN):c.101378A>T (p.Asp33793Val)
|
rs200675195
|
0.00009
|
NM_001267550.2(TTN):c.102353G>A (p.Arg34118Gln)
|
rs551905996
|
0.00009
|
NM_001267550.2(TTN):c.102428T>C (p.Met34143Thr)
|
rs397517786
|
0.00009
|
NM_001267550.2(TTN):c.103993C>G (p.Leu34665Val)
|
rs370890922
|
0.00009
|
NM_001267550.2(TTN):c.105091G>A (p.Val35031Met)
|
rs552058608
|
0.00009
|
NM_001267550.2(TTN):c.14050G>A (p.Gly4684Arg)
|
rs377579941
|
0.00009
|
NM_001267550.2(TTN):c.2360T>C (p.Ile787Thr)
|
rs143444636
|
0.00009
|
NM_001267550.2(TTN):c.47705G>A (p.Gly15902Glu)
|
rs561284948
|
0.00009
|
NM_001267550.2(TTN):c.49363A>G (p.Thr16455Ala)
|
rs374543277
|
0.00009
|
NM_001267550.2(TTN):c.51668G>A (p.Arg17223Gln)
|
rs142395261
|
0.00009
|
NM_001267550.2(TTN):c.53012C>T (p.Ala17671Val)
|
rs549478203
|
0.00009
|
NM_001267550.2(TTN):c.53780T>C (p.Leu17927Pro)
|
rs369678018
|
0.00009
|
NM_001267550.2(TTN):c.54053A>T (p.Lys18018Met)
|
rs368425364
|
0.00009
|
NM_001267550.2(TTN):c.58857A>C (p.Glu19619Asp)
|
rs368026488
|
0.00009
|
NM_001267550.2(TTN):c.59849G>A (p.Arg19950Gln)
|
rs374914334
|
0.00009
|
NM_001267550.2(TTN):c.66086G>A (p.Arg22029His)
|
rs72646868
|
0.00009
|
NM_001267550.2(TTN):c.66601G>A (p.Asp22201Asn)
|
rs368924655
|
0.00009
|
NM_001267550.2(TTN):c.68225-5T>C
|
rs758273663
|
0.00009
|
NM_001267550.2(TTN):c.69638G>A (p.Arg23213His)
|
rs374883884
|
0.00009
|
NM_001267550.2(TTN):c.71104G>T (p.Gly23702Trp)
|
rs750853901
|
0.00009
|
NM_001267550.2(TTN):c.72674C>T (p.Pro24225Leu)
|
rs55992239
|
0.00009
|
NM_001267550.2(TTN):c.72826A>T (p.Thr24276Ser)
|
rs373204984
|
0.00009
|
NM_001267550.2(TTN):c.77047A>G (p.Ile25683Val)
|
rs375611562
|
0.00009
|
NM_001267550.2(TTN):c.78906A>C (p.Glu26302Asp)
|
rs534003014
|
0.00009
|
NM_001267550.2(TTN):c.81565C>G (p.Leu27189Val)
|
rs142391957
|
0.00009
|
NM_001267550.2(TTN):c.84466G>C (p.Gly28156Arg)
|
rs763560084
|
0.00009
|
NM_001267550.2(TTN):c.84965G>A (p.Arg28322His)
|
rs373532064
|
0.00009
|
NM_001267550.2(TTN):c.87280G>A (p.Glu29094Lys)
|
rs199501185
|
0.00009
|
NM_001267550.2(TTN):c.91373G>A (p.Ser30458Asn)
|
rs376634713
|
0.00009
|
NM_001267550.2(TTN):c.97247C>T (p.Ser32416Leu)
|
rs377412567
|
0.00009
|
NM_001365276.2(TNXB):c.1496G>A (p.Gly499Asp)
|
rs771249673
|
0.00009
|
NM_001365276.2(TNXB):c.2540G>A (p.Arg847Gln)
|
rs200283439
|
0.00009
|
NM_001365276.2(TNXB):c.7685G>A (p.Arg2562Gln)
|
rs200233352
|
0.00009
|
NM_001365276.2(TNXB):c.8726A>G (p.Lys2909Arg)
|
rs372398179
|
0.00009
|
NM_001367624.2(ZNF469):c.11185G>A (p.Gly3729Ser)
|
rs273585629
|
0.00009
|
NM_001367624.2(ZNF469):c.11545C>T (p.Arg3849Trp)
|
rs770109867
|
0.00009
|
NM_001367624.2(ZNF469):c.3452C>T (p.Ala1151Val)
|
rs755348435
|
0.00009
|
NM_001367624.2(ZNF469):c.4001C>T (p.Pro1334Leu)
|
rs1016116935
|
0.00009
|
NM_001367624.2(ZNF469):c.6964A>G (p.Met2322Val)
|
rs571086007
|
0.00009
|
NM_001367624.2(ZNF469):c.8548C>T (p.Pro2850Ser)
|
rs906063111
|
0.00009
|
NM_001368067.1(LDB3):c.433G>A (p.Gly145Ser)
|
rs376489385
|
0.00009
|
NM_001378454.1(ALMS1):c.1061C>T (p.Thr354Ile)
|
rs370726988
|
0.00009
|
NM_001378454.1(ALMS1):c.11017C>A (p.Leu3673Ile)
|
rs549757247
|
0.00009
|
NM_001378454.1(ALMS1):c.12119C>T (p.Ser4040Leu)
|
rs763327026
|
0.00009
|
NM_001378454.1(ALMS1):c.3395A>G (p.Gln1132Arg)
|
rs202114540
|
0.00009
|
NM_001378454.1(ALMS1):c.3892C>A (p.Gln1298Lys)
|
rs770645262
|
0.00009
|
NM_001378454.1(ALMS1):c.4068G>C (p.Glu1356Asp)
|
rs376812264
|
0.00009
|
NM_001378454.1(ALMS1):c.4199A>G (p.His1400Arg)
|
rs371101065
|
0.00009
|
NM_001378454.1(ALMS1):c.4948C>T (p.Pro1650Ser)
|
rs765233016
|
0.00009
|
NM_001378454.1(ALMS1):c.8C>T (p.Pro3Leu)
|
rs914898490
|
0.00009
|
NM_001379200.1(TBX1):c.1402G>C (p.Val468Leu)
|
rs764197422
|
0.00009
|
NM_001379200.1(TBX1):c.711C>T (p.His237=)
|
rs200021644
|
0.00009
|
NM_001458.5(FLNC):c.1205C>T (p.Thr402Ile)
|
rs374757755
|
0.00009
|
NM_001458.5(FLNC):c.1616C>T (p.Pro539Leu)
|
rs375570393
|
0.00009
|
NM_001458.5(FLNC):c.1645A>G (p.Ile549Val)
|
rs547997371
|
0.00009
|
NM_001458.5(FLNC):c.2513C>T (p.Ala838Val)
|
rs775085661
|
0.00009
|
NM_001458.5(FLNC):c.3382G>A (p.Glu1128Lys)
|
rs145724410
|
0.00009
|
NM_001458.5(FLNC):c.3623C>T (p.Ala1208Val)
|
rs202184162
|
0.00009
|
NM_001458.5(FLNC):c.5128G>A (p.Glu1710Lys)
|
rs200077114
|
0.00009
|
NM_001458.5(FLNC):c.5410A>T (p.Met1804Leu)
|
rs201949844
|
0.00009
|
NM_001458.5(FLNC):c.5888C>T (p.Thr1963Met)
|
rs772580545
|
0.00009
|
NM_001458.5(FLNC):c.643G>A (p.Val215Met)
|
rs754309921
|
0.00009
|
NM_001458.5(FLNC):c.7363T>C (p.Tyr2455His)
|
rs371262238
|
0.00009
|
NM_001458.5(FLNC):c.7450G>A (p.Gly2484Ser)
|
rs778922568
|
0.00009
|
NM_001458.5(FLNC):c.970-5A>G
|
rs199755800
|
0.00009
|
NM_001711.6(BGN):c.976G>A (p.Gly326Arg)
|
rs200072898
|
0.00009
|
NM_001927.4(DES):c.250G>A (p.Gly84Ser)
|
rs200545412
|
0.00009
|
NM_001943.5(DSG2):c.379-3C>T
|
rs376556524
|
0.00009
|
NM_002294.3(LAMP2):c.769A>G (p.Asn257Asp)
|
rs369032377
|
0.00009
|
NM_002471.4(MYH6):c.203C>T (p.Thr68Met)
|
rs751285148
|
0.00009
|
NM_002471.4(MYH6):c.2554G>A (p.Ala852Thr)
|
rs776971183
|
0.00009
|
NM_002471.4(MYH6):c.3139C>T (p.Arg1047Cys)
|
rs755565288
|
0.00009
|
NM_002471.4(MYH6):c.3612G>C (p.Glu1204Asp)
|
rs751153777
|
0.00009
|
NM_002471.4(MYH6):c.421G>A (p.Ala141Thr)
|
rs776853139
|
0.00009
|
NM_002471.4(MYH6):c.4651-3C>A
|
rs572175190
|
0.00009
|
NM_002471.4(MYH6):c.4828C>T (p.Arg1610Cys)
|
rs780726611
|
0.00009
|
NM_003098.3(SNTA1):c.101G>A (p.Ser34Asn)
|
rs963277918
|
0.00009
|
NM_003476.5(CSRP3):c.190C>T (p.Arg64Cys)
|
rs368392588
|
0.00009
|
NM_003476.5(CSRP3):c.272A>T (p.Gln91Leu)
|
rs727504436
|
0.00009
|
NM_003476.5(CSRP3):c.49G>A (p.Val17Ile)
|
rs767932680
|
0.00009
|
NM_003673.4(TCAP):c.448G>A (p.Gly150Ser)
|
rs762850913
|
0.00009
|
NM_003673.4(TCAP):c.97C>T (p.Arg33Trp)
|
rs145524909
|
0.00009
|
NM_004006.3(DMD):c.3004A>T (p.Thr1002Ser)
|
rs1244241099
|
0.00009
|
NM_004006.3(DMD):c.6409G>C (p.Glu2137Gln)
|
rs1023328955
|
0.00009
|
NM_004006.3(DMD):c.961-4del
|
rs759592382
|
0.00009
|
NM_004281.4(BAG3):c.554C>T (p.Ser185Leu)
|
rs730880054
|
0.00009
|
NM_004281.4(BAG3):c.605C>T (p.Pro202Leu)
|
rs556000090
|
0.00009
|
NM_004281.4(BAG3):c.616A>C (p.Ile206Leu)
|
rs199700646
|
0.00009
|
NM_004387.4(NKX2-5):c.839C>T (p.Pro280Leu)
|
rs761596254
|
0.00009
|
NM_004415.4(DSP):c.2799G>C (p.Leu933Phe)
|
rs372922674
|
0.00009
|
NM_004415.4(DSP):c.4175G>A (p.Arg1392Gln)
|
rs201736018
|
0.00009
|
NM_004415.4(DSP):c.424C>T (p.Leu142Phe)
|
rs373769397
|
0.00009
|
NM_004415.4(DSP):c.5513G>A (p.Arg1838His)
|
rs377715841
|
0.00009
|
NM_004415.4(DSP):c.7852C>T (p.Pro2618Ser)
|
rs376005629
|
0.00009
|
NM_004588.5(SCN2B):c.205T>C (p.Tyr69His)
|
rs369196654
|
0.00009
|
NM_004588.5(SCN2B):c.281G>A (p.Arg94Gln)
|
rs774866184
|
0.00009
|
NM_005477.3(HCN4):c.418G>A (p.Gly140Ser)
|
rs773857091
|
0.00009
|
NM_005633.4(SOS1):c.244A>G (p.Ile82Val)
|
rs397517157
|
0.00009
|
NM_005633.4(SOS1):c.3322G>A (p.Asp1108Asn)
|
rs199856844
|
0.00009
|
NM_005751.5(AKAP9):c.11360G>A (p.Arg3787Gln)
|
rs199880764
|
0.00009
|
NM_005751.5(AKAP9):c.2239G>A (p.Glu747Lys)
|
rs529180209
|
0.00009
|
NM_005751.5(AKAP9):c.6808G>A (p.Ala2270Thr)
|
rs1042630361
|
0.00009
|
NM_005751.5(AKAP9):c.8747C>A (p.Thr2916Lys)
|
rs146648044
|
0.00009
|
NM_006073.4(TRDN):c.1808G>C (p.Gly603Ala)
|
rs766406818
|
0.00009
|
NM_006073.4(TRDN):c.727A>G (p.Thr243Ala)
|
rs376208769
|
0.00009
|
NM_006073.4(TRDN):c.884C>T (p.Pro295Leu)
|
rs201899630
|
0.00009
|
NM_006440.5(TXNRD2):c.1549C>T (p.Pro517Ser)
|
rs756196216
|
0.00009
|
NM_006440.5(TXNRD2):c.745C>T (p.Arg249Cys)
|
rs557142042
|
0.00009
|
NM_006514.4(SCN10A):c.4639G>T (p.Val1547Leu)
|
rs377492327
|
0.00009
|
NM_006939.4(SOS2):c.3235A>G (p.Thr1079Ala)
|
rs61755576
|
0.00009
|
NM_007078.3(LDB3):c.1487T>C (p.Phe496Ser)
|
rs147072071
|
0.00009
|
NM_007078.3(LDB3):c.1823C>T (p.Pro608Leu)
|
rs145983824
|
0.00009
|
NM_007373.4(SHOC2):c.1477C>T (p.Leu493Phe)
|
rs1026930115
|
0.00009
|
NM_007373.4(SHOC2):c.355A>G (p.Ile119Val)
|
rs147068827
|
0.00009
|
NM_012186.3(FOXE3):c.269G>T (p.Arg90Leu)
|
rs371048362
|
0.00009
|
NM_014391.3(ANKRD1):c.806G>A (p.Arg269Gln)
|
rs367609929
|
0.00009
|
NM_016203.4(PRKAG2):c.187-4G>A
|
rs752294420
|
0.00009
|
NM_016203.4(PRKAG2):c.455G>A (p.Arg152His)
|
rs765374050
|
0.00009
|
NM_017636.4(TRPM4):c.1374G>T (p.Met458Ile)
|
rs750029092
|
0.00009
|
NM_017636.4(TRPM4):c.1756G>C (p.Val586Leu)
|
rs369462197
|
0.00009
|
NM_017636.4(TRPM4):c.2984C>T (p.Ser995Leu)
|
rs116547139
|
0.00009
|
NM_017636.4(TRPM4):c.3602C>T (p.Pro1201Leu)
|
rs773147035
|
0.00009
|
NM_017946.4(FKBP14):c.357T>G (p.Ile119Met)
|
rs202182643
|
0.00009
|
NM_020297.4(ABCC9):c.1320+1G>A
|
rs139620148
|
0.00009
|
NM_020778.5(ALPK3):c.-63G>C
|
rs990569157
|
0.00009
|
NM_020778.5(ALPK3):c.1457C>T (p.Pro486Leu)
|
rs150985765
|
0.00009
|
NM_020778.5(ALPK3):c.3683G>A (p.Arg1228Gln)
|
rs150023454
|
0.00009
|
NM_020778.5(ALPK3):c.3752T>C (p.Val1251Ala)
|
rs762986369
|
0.00009
|
NM_020778.5(ALPK3):c.400C>T (p.Arg134Cys)
|
rs779972206
|
0.00009
|
NM_022436.3(ABCG5):c.1733A>G (p.Asn578Ser)
|
rs146534033
|
0.00009
|
NM_022437.3(ABCG8):c.1763C>A (p.Ala588Glu)
|
rs377433853
|
0.00009
|
NM_022773.4(LMF1):c.295C>T (p.Gln99Ter)
|
rs752473648
|
0.00009
|
NM_024301.5(FKRP):c.1441C>G (p.Pro481Ala)
|
rs745774108
|
0.00009
|
NM_024334.3(TMEM43):c.865G>A (p.Gly289Arg)
|
rs730880226
|
0.00009
|
NM_024422.6(DSC2):c.1802A>C (p.Glu601Ala)
|
rs537381028
|
0.00009
|
NM_144573.4(NEXN):c.1435C>T (p.Leu479Phe)
|
rs181520023
|
0.00009
|
NM_170707.4(LMNA):c.1390A>G (p.Met464Val)
|
rs200262654
|
0.00009
|
NM_170707.4(LMNA):c.976T>A (p.Ser326Thr)
|
rs56851164
|
0.00009
|
NM_172201.2(KCNE2):c.346G>A (p.Ala116Thr)
|
rs150790888
|
0.00009
|
NM_000089.4(COL1A2):c.2456G>A (p.Arg819His)
|
rs773985005
|
0.00008
|
NM_000218.3(KCNQ1):c.584G>A (p.Arg195Gln)
|
rs138362632
|
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_000256.3(MYBPC3):c.2882C>T (p.Pro961Leu)
|
rs373056282
|
0.00008
|
NM_000335.5(SCN5A):c.2963G>A (p.Arg988Gln)
|
rs759584454
|
0.00008
|
NM_000335.5(SCN5A):c.3536C>T (p.Ala1179Val)
|
rs41310765
|
0.00008
|
NM_000335.5(SCN5A):c.5333C>T (p.Thr1778Met)
|
rs199473634
|
0.00008
|
NM_000384.3(APOB):c.13288T>A (p.Ser4430Thr)
|
rs72654426
|
0.00008
|
NM_000384.3(APOB):c.6656G>A (p.Arg2219His)
|
rs200106845
|
0.00008
|
NM_000527.5(LDLR):c.1085A>C (p.Asp362Ala)
|
rs138315511
|
0.00008
|
NM_000527.5(LDLR):c.1503G>A (p.Ala501=)
|
rs368889457
|
0.00008
|
NM_000722.4(CACNA2D1):c.2333C>T (p.Ser778Leu)
|
rs202108848
|
0.00008
|
NM_000890.5(KCNJ5):c.536A>G (p.Asn179Ser)
|
rs147070381
|
0.00008
|
NM_001005242.3(PKP2):c.194C>T (p.Ala65Val)
|
rs139924723
|
0.00008
|
NM_001035.3(RYR2):c.1318G>A (p.Ala440Thr)
|
rs371878264
|
0.00008
|
NM_001035.3(RYR2):c.13718G>A (p.Arg4573His)
|
rs371157286
|
0.00008
|
NM_001035.3(RYR2):c.1454G>A (p.Arg485Gln)
|
rs752144775
|
0.00008
|
NM_001035.3(RYR2):c.1561G>A (p.Glu521Lys)
|
rs759494098
|
0.00008
|
NM_001035.3(RYR2):c.629C>T (p.Thr210Ile)
|
rs371086868
|
0.00008
|
NM_001035.3(RYR2):c.6445A>G (p.Ile2149Val)
|
rs767258350
|
0.00008
|
NM_001035.3(RYR2):c.9397A>G (p.Ile3133Val)
|
rs1032783973
|
0.00008
|
NM_001035.3(RYR2):c.9518C>T (p.Thr3173Ile)
|
rs746161154
|
0.00008
|
NM_001040151.2(SCN3B):c.585-4A>G
|
rs745830643
|
0.00008
|
NM_001077653.2(TBX20):c.1001G>A (p.Arg334Gln)
|
rs767429245
|
0.00008
|
NM_001079802.2(FKTN):c.1102T>C (p.Phe368Leu)
|
rs374381691
|
0.00008
|
NM_001105206.3(LAMA4):c.1522G>A (p.Ala508Thr)
|
rs139730568
|
0.00008
|
NM_001105206.3(LAMA4):c.2189G>A (p.Arg730His)
|
rs781825990
|
0.00008
|
NM_001105206.3(LAMA4):c.221C>A (p.Thr74Asn)
|
rs782226255
|
0.00008
|
NM_001105206.3(LAMA4):c.2599C>A (p.Pro867Thr)
|
rs782162498
|
0.00008
|
NM_001105206.3(LAMA4):c.4199A>G (p.Tyr1400Cys)
|
rs782041997
|
0.00008
|
NM_001105206.3(LAMA4):c.4715T>G (p.Leu1572Arg)
|
rs782367093
|
0.00008
|
NM_001134363.3(RBM20):c.1858G>A (p.Asp620Asn)
|
rs541330074
|
0.00008
|
NM_001134363.3(RBM20):c.2239C>T (p.His747Tyr)
|
rs535221986
|
0.00008
|
NM_001134363.3(RBM20):c.2264G>A (p.Arg755His)
|
rs986602724
|
0.00008
|
NM_001134363.3(RBM20):c.3616G>A (p.Glu1206Lys)
|
rs757389650
|
0.00008
|
NM_001232.4(CASQ2):c.1015-3C>T
|
rs375320117
|
0.00008
|
NM_001232.4(CASQ2):c.860T>A (p.Ile287Asn)
|
rs368165922
|
0.00008
|
NM_001267550.2(TTN):c.105757G>A (p.Val35253Met)
|
rs373655492
|
0.00008
|
NM_001267550.2(TTN):c.106511G>C (p.Ser35504Thr)
|
rs575070622
|
0.00008
|
NM_001267550.2(TTN):c.107105C>T (p.Pro35702Leu)
|
rs772957495
|
0.00008
|
NM_001267550.2(TTN):c.12181G>A (p.Ala4061Thr)
|
rs397517829
|
0.00008
|
NM_001267550.2(TTN):c.2767G>A (p.Glu923Lys)
|
rs369195237
|
0.00008
|
NM_001267550.2(TTN):c.34216C>A (p.Pro11406Thr)
|
rs532102837
|
0.00008
|
NM_001267550.2(TTN):c.47860G>A (p.Ala15954Thr)
|
rs377037421
|
0.00008
|
NM_001267550.2(TTN):c.54631C>A (p.Pro18211Thr)
|
rs727504192
|
0.00008
|
NM_001267550.2(TTN):c.57559G>A (p.Val19187Ile)
|
rs764203267
|
0.00008
|
NM_001267550.2(TTN):c.65416C>T (p.Arg21806Trp)
|
rs778703530
|
0.00008
|
NM_001267550.2(TTN):c.65515G>A (p.Ala21839Thr)
|
rs56378177
|
0.00008
|
NM_001267550.2(TTN):c.6959G>A (p.Arg2320His)
|
rs374615369
|
0.00008
|
NM_001267550.2(TTN):c.71944A>G (p.Asn23982Asp)
|
rs199755820
|
0.00008
|
NM_001267550.2(TTN):c.82864C>A (p.Pro27622Thr)
|
rs769189431
|
0.00008
|
NM_001267550.2(TTN):c.83080C>T (p.Arg27694Cys)
|
rs192360370
|
0.00008
|
NM_001267550.2(TTN):c.85472G>A (p.Arg28491His)
|
rs373129706
|
0.00008
|
NM_001267550.2(TTN):c.88183T>C (p.Phe29395Leu)
|
rs55940667
|
0.00008
|
NM_001267550.2(TTN):c.90727A>T (p.Ile30243Phe)
|
rs925184690
|
0.00008
|
NM_001267550.2(TTN):c.92710A>G (p.Lys30904Glu)
|
rs370265204
|
0.00008
|
NM_001267550.2(TTN):c.94629A>G (p.Ile31543Met)
|
rs397517759
|
0.00008
|
NM_001267550.2(TTN):c.98431C>T (p.Arg32811Cys)
|
rs371807358
|
0.00008
|
NM_001308093.3(GATA4):c.623T>C (p.Met208Thr)
|
rs140892695
|
0.00008
|
NM_001365276.2(TNXB):c.9467C>T (p.Pro3156Leu)
|
rs200111122
|
0.00008
|
NM_001367624.2(ZNF469):c.11503G>A (p.Gly3835Arg)
|
rs574550673
|
0.00008
|
NM_001367624.2(ZNF469):c.1430C>T (p.Pro477Leu)
|
rs1336355924
|
0.00008
|
NM_001367624.2(ZNF469):c.4972T>A (p.Trp1658Arg)
|
rs554985503
|
0.00008
|
NM_001367624.2(ZNF469):c.7195C>T (p.Pro2399Ser)
|
rs759032227
|
0.00008
|
NM_001367624.2(ZNF469):c.8387C>G (p.Pro2796Arg)
|
rs886052412
|
0.00008
|
NM_001367624.2(ZNF469):c.8801T>A (p.Leu2934Gln)
|
rs764531239
|
0.00008
|
NM_001367624.2(ZNF469):c.8931C>G (p.His2977Gln)
|
rs758398877
|
0.00008
|
NM_001367624.2(ZNF469):c.959C>T (p.Thr320Met)
|
rs765028361
|
0.00008
|
NM_001378454.1(ALMS1):c.8357C>G (p.Thr2786Ser)
|
rs565373304
|
0.00008
|
NM_001378454.1(ALMS1):c.9496G>A (p.Glu3166Lys)
|
rs201208516
|
0.00008
|
NM_001379200.1(TBX1):c.1252G>C (p.Glu418Gln)
|
rs776268518
|
0.00008
|
NM_001458.5(FLNC):c.1513G>A (p.Gly505Ser)
|
rs200935123
|
0.00008
|
NM_001458.5(FLNC):c.2602A>G (p.Ser868Gly)
|
rs201002262
|
0.00008
|
NM_001458.5(FLNC):c.4651G>A (p.Ala1551Thr)
|
rs565918031
|
0.00008
|
NM_001458.5(FLNC):c.5216C>T (p.Pro1739Leu)
|
rs745650222
|
0.00008
|
NM_001458.5(FLNC):c.6817G>A (p.Ala2273Thr)
|
rs372251350
|
0.00008
|
NM_001711.6(BGN):c.515G>A (p.Arg172His)
|
rs782239175
|
0.00008
|
NM_001711.6(BGN):c.988G>C (p.Ala330Pro)
|
rs1181844672
|
0.00008
|
NM_001927.4(DES):c.216C>A (p.Ser72Arg)
|
rs375719734
|
0.00008
|
NM_002317.7(LOX):c.104C>A (p.Pro35Gln)
|
rs757946184
|
0.00008
|
NM_002471.4(MYH6):c.1002T>A (p.Asp334Glu)
|
rs371859345
|
0.00008
|
NM_002471.4(MYH6):c.2591C>T (p.Thr864Met)
|
rs200153625
|
0.00008
|
NM_002471.4(MYH6):c.3178G>A (p.Asp1060Asn)
|
rs775560235
|
0.00008
|
NM_002471.4(MYH6):c.3274C>G (p.Gln1092Glu)
|
rs567433969
|
0.00008
|
NM_002471.4(MYH6):c.3604G>A (p.Val1202Met)
|
rs368451573
|
0.00008
|
NM_002471.4(MYH6):c.3867G>T (p.Leu1289Phe)
|
rs138127105
|
0.00008
|
NM_002471.4(MYH6):c.4016G>A (p.Arg1339Gln)
|
rs766238876
|
0.00008
|
NM_002471.4(MYH6):c.4727G>A (p.Arg1576Gln)
|
rs771898553
|
0.00008
|
NM_003480.4(MFAP5):c.89G>A (p.Arg30Gln)
|
rs145592970
|
0.00008
|
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro)
|
rs370644567
|
0.00008
|
NM_004006.3(DMD):c.5548A>G (p.Lys1850Glu)
|
rs141261536
|
0.00008
|
NM_004006.3(DMD):c.6847A>G (p.Ile2283Val)
|
rs751145927
|
0.00008
|
NM_004006.3(DMD):c.733A>G (p.Ile245Val)
|
rs140510985
|
0.00008
|
NM_004006.3(DMD):c.7919C>G (p.Ala2640Gly)
|
rs146020545
|
0.00008
|
NM_004387.4(NKX2-5):c.769C>A (p.Pro257Thr)
|
rs387906776
|
0.00008
|
NM_004415.4(DSP):c.107G>C (p.Gly36Ala)
|
rs778506459
|
0.00008
|
NM_004415.4(DSP):c.2125C>T (p.Leu709Phe)
|
rs1431507005
|
0.00008
|
NM_004415.4(DSP):c.7552G>A (p.Val2518Ile)
|
rs757394666
|
0.00008
|
NM_005477.3(HCN4):c.1087A>G (p.Ile363Val)
|
rs144168042
|
0.00008
|
NM_005477.3(HCN4):c.2669C>T (p.Pro890Leu)
|
rs758929649
|
0.00008
|
NM_005477.3(HCN4):c.2695G>A (p.Val899Ile)
|
rs370669201
|
0.00008
|
NM_005477.3(HCN4):c.466G>A (p.Gly156Ser)
|
rs924203370
|
0.00008
|
NM_005477.3(HCN4):c.481C>A (p.Pro161Thr)
|
rs1490522995
|
0.00008
|
NM_005477.3(HCN4):c.724C>T (p.Arg242Cys)
|
rs745880598
|
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.7034_7036del (p.Arg2345_Glu2346delinsLys)
|
rs786205709
|
0.00008
|
NM_005751.5(AKAP9):c.8468A>G (p.Gln2823Arg)
|
rs376528503
|
0.00008
|
NM_005911.6(MAT2A):c.721A>G (p.Ile241Val)
|
rs578215416
|
0.00008
|
NM_006073.4(TRDN):c.1137T>G (p.Asp379Glu)
|
rs200706450
|
0.00008
|
NM_006440.5(TXNRD2):c.1030G>T (p.Asp344Tyr)
|
rs373839226
|
0.00008
|
NM_006514.4(SCN10A):c.3704C>T (p.Ala1235Val)
|
rs765984332
|
0.00008
|
NM_007078.3(LDB3):c.1075G>A (p.Asp359Asn)
|
rs557956141
|
0.00008
|
NM_007078.3(LDB3):c.1675C>T (p.Arg559Trp)
|
rs142947567
|
0.00008
|
NM_007078.3(LDB3):c.1676G>A (p.Arg559Gln)
|
rs763908636
|
0.00008
|
NM_007078.3(LDB3):c.581A>T (p.Gln194Leu)
|
rs769852198
|
0.00008
|
NM_007078.3(LDB3):c.715G>A (p.Val239Ile)
|
rs201417512
|
0.00008
|
NM_007078.3(LDB3):c.887G>A (p.Arg296Gln)
|
rs201689564
|
0.00008
|
NM_007373.4(SHOC2):c.74A>G (p.Glu25Gly)
|
rs730881019
|
0.00008
|
NM_012186.3(FOXE3):c.127G>A (p.Glu43Lys)
|
rs1030716081
|
0.00008
|
NM_012186.3(FOXE3):c.604C>T (p.Pro202Ser)
|
rs1213749118
|
0.00008
|
NM_014000.3(VCL):c.1490T>C (p.Ile497Thr)
|
rs572757800
|
0.00008
|
NM_014000.3(VCL):c.1621C>G (p.Leu541Val)
|
rs370229150
|
0.00008
|
NM_014000.3(VCL):c.2444A>G (p.Lys815Arg)
|
rs373010557
|
0.00008
|
NM_014391.3(ANKRD1):c.27+4T>A
|
rs376540175
|
0.00008
|
NM_014391.3(ANKRD1):c.751-4C>A
|
rs780419708
|
0.00008
|
NM_016203.4(PRKAG2):c.1304A>G (p.Asn435Ser)
|
rs200589374
|
0.00008
|
NM_016599.5(MYOZ2):c.479C>T (p.Pro160Leu)
|
rs200791464
|
0.00008
|
NM_017636.4(TRPM4):c.2638G>A (p.Gly880Ser)
|
rs762428211
|
0.00008
|
NM_020433.5(JPH2):c.829G>T (p.Ala277Ser)
|
rs368516996
|
0.00008
|
NM_020778.5(ALPK3):c.2653A>G (p.Ser885Gly)
|
rs770595600
|
0.00008
|
NM_020778.5(ALPK3):c.3038G>A (p.Arg1013His)
|
rs201993684
|
0.00008
|
NM_020778.5(ALPK3):c.4024G>A (p.Gly1342Ser)
|
rs373062858
|
0.00008
|
NM_020778.5(ALPK3):c.5003G>A (p.Arg1668Gln)
|
rs370296349
|
0.00008
|
NM_020778.5(ALPK3):c.983G>A (p.Arg328Gln)
|
rs1343260515
|
0.00008
|
NM_022436.3(ABCG5):c.1348G>A (p.Asp450Asn)
|
rs530616214
|
0.00008
|
NM_022437.3(ABCG8):c.694+5G>C
|
rs557890655
|
0.00008
|
NM_024422.6(DSC2):c.596G>A (p.Arg199His)
|
rs374707462
|
0.00008
|
NM_032578.4(MYPN):c.3793+4A>G
|
rs145946587
|
0.00008
|
NM_032578.4(MYPN):c.757G>C (p.Gly253Arg)
|
rs201983087
|
0.00008
|
NM_170707.4(LMNA):c.1381-5G>A
|
rs730880133
|
0.00008
|
NM_170707.4(LMNA):c.1862C>T (p.Thr621Met)
|
rs765594825
|
0.00008
|
NM_174936.4(PCSK9):c.479G>A (p.Arg160Gln)
|
rs367620267
|
0.00008
|
NM_174936.4(PCSK9):c.493C>T (p.Arg165Trp)
|
rs141593516
|
0.00008
|
NM_174936.4(PCSK9):c.520C>T (p.Pro174Ser)
|
rs533273863
|
0.00008
|
NM_000039.3(APOA1):c.158A>G (p.Tyr53Cys)
|
rs750185173
|
0.00007
|
NM_000039.3(APOA1):c.80C>A (p.Pro27His)
|
rs121912720
|
0.00007
|
NM_000089.4(COL1A2):c.1564C>T (p.Pro522Ser)
|
rs199732595
|
0.00007
|
NM_000089.4(COL1A2):c.2309C>T (p.Pro770Leu)
|
rs149858889
|
0.00007
|
NM_000152.5(GAA):c.658G>T (p.Val220Leu)
|
rs530478036
|
0.00007
|
NM_000214.3(JAG1):c.2828C>T (p.Pro943Leu)
|
rs767826365
|
0.00007
|
NM_000214.3(JAG1):c.3154G>A (p.Val1052Ile)
|
rs375200637
|
0.00007
|
NM_000214.3(JAG1):c.3260C>T (p.Thr1087Met)
|
rs763164530
|
0.00007
|
NM_000214.3(JAG1):c.3652G>A (p.Val1218Ile)
|
rs150295026
|
0.00007
|
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_000237.3(LPL):c.1196T>C (p.Ile399Thr)
|
rs139282874
|
0.00007
|
NM_000256.3(MYBPC3):c.1786G>A (p.Gly596Arg)
|
rs199728019
|
0.00007
|
NM_000256.3(MYBPC3):c.2672G>A (p.Arg891Gln)
|
rs727504378
|
0.00007
|
NM_000256.3(MYBPC3):c.2765G>A (p.Gly922Glu)
|
rs751224775
|
0.00007
|
NM_000256.3(MYBPC3):c.3049G>A (p.Glu1017Lys)
|
rs368180702
|
0.00007
|
NM_000256.3(MYBPC3):c.3107G>A (p.Arg1036His)
|
rs374255381
|
0.00007
|
NM_000256.3(MYBPC3):c.844C>T (p.Arg282Trp)
|
rs727504234
|
0.00007
|
NM_000257.4(MYH7):c.114C>T (p.Phe38=)
|
rs146210693
|
0.00007
|
NM_000335.5(SCN5A):c.1750G>C (p.Gly584Arg)
|
rs763240431
|
0.00007
|
NM_000335.5(SCN5A):c.4067C>T (p.Ala1356Val)
|
rs370588133
|
0.00007
|
NM_000335.5(SCN5A):c.4975A>G (p.Ile1659Val)
|
rs199473625
|
0.00007
|
NM_000371.4(TTR):c.280G>C (p.Asp94His)
|
rs730881164
|
0.00007
|
NM_000384.3(APOB):c.11443G>A (p.Val3815Met)
|
rs551178628
|
0.00007
|
NM_000384.3(APOB):c.12736T>G (p.Phe4246Val)
|
rs200260789
|
0.00007
|
NM_000384.3(APOB):c.2312C>T (p.Pro771Leu)
|
rs200524554
|
0.00007
|
NM_000384.3(APOB):c.2938G>A (p.Ala980Thr)
|
rs369310292
|
0.00007
|
NM_000384.3(APOB):c.5600G>A (p.Arg1867Gln)
|
rs371337253
|
0.00007
|
NM_000384.3(APOB):c.6655C>T (p.Arg2219Cys)
|
rs141641980
|
0.00007
|
NM_000719.7(CACNA1C):c.2566G>A (p.Gly856Ser)
|
rs145549773
|
0.00007
|
NM_000719.7(CACNA1C):c.5671G>C (p.Ala1891Pro)
|
rs542914369
|
0.00007
|
NM_000784.4(CYP27A1):c.1114G>A (p.Gly372Arg)
|
rs369969903
|
0.00007
|
NM_000784.4(CYP27A1):c.593C>T (p.Ser198Leu)
|
rs563736306
|
0.00007
|
NM_001035.3(RYR2):c.1144G>A (p.Val382Met)
|
rs370057029
|
0.00007
|
NM_001035.3(RYR2):c.1396C>G (p.Pro466Ala)
|
rs376612295
|
0.00007
|
NM_001035.3(RYR2):c.5822G>A (p.Arg1941His)
|
rs373600053
|
0.00007
|
NM_001035.3(RYR2):c.7495G>A (p.Ala2499Thr)
|
rs191850147
|
0.00007
|
NM_001103.4(ACTN2):c.331G>A (p.Gly111Arg)
|
rs148628141
|
0.00007
|
NM_001103.4(ACTN2):c.899C>T (p.Thr300Met)
|
rs144025957
|
0.00007
|
NM_001103.4(ACTN2):c.926C>T (p.Pro309Leu)
|
rs146568303
|
0.00007
|
NM_001105206.3(LAMA4):c.163G>T (p.Val55Leu)
|
rs377370824
|
0.00007
|
NM_001105206.3(LAMA4):c.1858G>A (p.Ala620Thr)
|
rs374001056
|
0.00007
|
NM_001105206.3(LAMA4):c.2090G>A (p.Arg697His)
|
rs397516723
|
0.00007
|
NM_001105206.3(LAMA4):c.874G>A (p.Glu292Lys)
|
rs781838464
|
0.00007
|
NM_001105206.3(LAMA4):c.889G>A (p.Gly297Arg)
|
rs375305822
|
0.00007
|
NM_001110556.2(FLNA):c.3106C>T (p.Arg1036Cys)
|
rs781844419
|
0.00007
|
NM_001114753.3(ENG):c.121G>A (p.Glu41Lys)
|
rs199675436
|
0.00007
|
NM_001134363.3(RBM20):c.1024C>A (p.Pro342Thr)
|
rs876657971
|
0.00007
|
NM_001148.6(ANK2):c.10453G>A (p.Ala3485Thr)
|
rs754354916
|
0.00007
|
NM_001232.4(CASQ2):c.475G>A (p.Glu159Lys)
|
rs375598471
|
0.00007
|
NM_001232.4(CASQ2):c.503T>C (p.Ile168Thr)
|
rs148057999
|
0.00007
|
NM_001267550.2(TTN):c.100396C>T (p.Arg33466Cys)
|
rs371908649
|
0.00007
|
NM_001267550.2(TTN):c.13227C>T (p.Ser4409=)
|
rs571473566
|
0.00007
|
NM_001267550.2(TTN):c.13700A>G (p.Asp4567Gly)
|
rs745641339
|
0.00007
|
NM_001267550.2(TTN):c.40688C>T (p.Thr13563Ile)
|
rs780572853
|
0.00007
|
NM_001267550.2(TTN):c.44588C>T (p.Thr14863Met)
|
rs759406486
|
0.00007
|
NM_001267550.2(TTN):c.47693G>A (p.Arg15898Gln)
|
rs376278449
|
0.00007
|
NM_001267550.2(TTN):c.53807G>A (p.Arg17936His)
|
rs727503604
|
0.00007
|
NM_001267550.2(TTN):c.56947G>A (p.Ala18983Thr)
|
rs377000174
|
0.00007
|
NM_001267550.2(TTN):c.62290G>C (p.Glu20764Gln)
|
rs397517651
|
0.00007
|
NM_001267550.2(TTN):c.63065G>A (p.Arg21022His)
|
rs727503585
|
0.00007
|
NM_001267550.2(TTN):c.63578G>A (p.Arg21193His)
|
rs372267046
|
0.00007
|
NM_001267550.2(TTN):c.72226T>G (p.Leu24076Val)
|
rs202098308
|
0.00007
|
NM_001267550.2(TTN):c.78980G>A (p.Arg26327Gln)
|
rs370367786
|
0.00007
|
NM_001267550.2(TTN):c.88117G>A (p.Glu29373Lys)
|
rs762557803
|
0.00007
|
NM_001267550.2(TTN):c.9326A>G (p.Lys3109Arg)
|
rs753036867
|
0.00007
|
NM_001267550.2(TTN):c.9363G>A (p.Met3121Ile)
|
rs200413367
|
0.00007
|
NM_001267550.2(TTN):c.9571C>G (p.Gln3191Glu)
|
rs33997263
|
0.00007
|
NM_001267550.2(TTN):c.95962G>A (p.Val31988Met)
|
rs756469423
|
0.00007
|
NM_001365276.2(TNXB):c.10454A>G (p.Asp3485Gly)
|
rs371565354
|
0.00007
|
NM_001365276.2(TNXB):c.529C>T (p.Pro177Ser)
|
rs369052118
|
0.00007
|
NM_001365276.2(TNXB):c.7296C>T (p.Thr2432=)
|
rs753041189
|
0.00007
|
NM_001367624.2(ZNF469):c.1507C>T (p.Arg503Trp)
|
rs767072775
|
0.00007
|
NM_001367624.2(ZNF469):c.3919G>A (p.Gly1307Ser)
|
rs568553875
|
0.00007
|
NM_001367624.2(ZNF469):c.7006C>T (p.Arg2336Cys)
|
rs1364703200
|
0.00007
|
NM_001367624.2(ZNF469):c.9269G>A (p.Arg3090Gln)
|
rs751447615
|
0.00007
|
NM_001378454.1(ALMS1):c.12005G>A (p.Arg4002Gln)
|
rs375923289
|
0.00007
|
NM_001378454.1(ALMS1):c.12362G>A (p.Arg4121Gln)
|
rs376602261
|
0.00007
|
NM_001378454.1(ALMS1):c.1516A>T (p.Ile506Phe)
|
rs555552377
|
0.00007
|
NM_001378454.1(ALMS1):c.3965A>G (p.Gln1322Arg)
|
rs1251705223
|
0.00007
|
NM_001378454.1(ALMS1):c.9449G>A (p.Ser3150Asn)
|
rs34029285
|
0.00007
|
NM_001378454.1(ALMS1):c.974C>T (p.Ser325Leu)
|
rs376632767
|
0.00007
|
NM_001378969.1(KCND3):c.1703G>A (p.Arg568His)
|
rs200212002
|
0.00007
|
NM_001458.5(FLNC):c.1142G>A (p.Arg381His)
|
rs776469396
|
0.00007
|
NM_001458.5(FLNC):c.1886G>A (p.Arg629Gln)
|
rs765173966
|
0.00007
|
NM_001458.5(FLNC):c.205C>T (p.Arg69Trp)
|
rs758342140
|
0.00007
|
NM_001458.5(FLNC):c.2419C>T (p.Pro807Ser)
|
rs946201226
|
0.00007
|
NM_001458.5(FLNC):c.2843G>A (p.Gly948Glu)
|
rs373298499
|
0.00007
|
NM_001458.5(FLNC):c.3592G>C (p.Val1198Leu)
|
rs201912847
|
0.00007
|
NM_001458.5(FLNC):c.3872G>A (p.Arg1291His)
|
rs370042010
|
0.00007
|
NM_001458.5(FLNC):c.8020G>A (p.Gly2674Ser)
|
rs372338218
|
0.00007
|
NM_001711.6(BGN):c.167C>T (p.Thr56Ile)
|
rs199564098
|
0.00007
|
NM_001711.6(BGN):c.514C>T (p.Arg172Cys)
|
rs370978501
|
0.00007
|
NM_001943.5(DSG2):c.1397C>T (p.Thr466Ile)
|
rs769137357
|
0.00007
|
NM_002294.3(LAMP2):c.515T>C (p.Leu172Pro)
|
rs371174243
|
0.00007
|
NM_002471.4(MYH6):c.1244G>C (p.Gly415Ala)
|
rs759520932
|
0.00007
|
NM_002471.4(MYH6):c.3808C>T (p.Arg1270Cys)
|
rs371849826
|
0.00007
|
NM_002471.4(MYH6):c.4666G>A (p.Glu1556Lys)
|
rs148582147
|
0.00007
|
NM_002471.4(MYH6):c.5501G>A (p.Arg1834His)
|
rs202132499
|
0.00007
|
NM_002471.4(MYH6):c.642+4C>T
|
rs369858520
|
0.00007
|
NM_002471.4(MYH6):c.679G>A (p.Ala227Thr)
|
rs201828188
|
0.00007
|
NM_002880.4(RAF1):c.365T>C (p.Ile122Thr)
|
rs730881000
|
0.00007
|
NM_003098.3(SNTA1):c.1105C>T (p.Arg369Cys)
|
rs369968387
|
0.00007
|
NM_003098.3(SNTA1):c.1442C>T (p.Ser481Leu)
|
rs370531842
|
0.00007
|
NM_004006.3(DMD):c.4862T>C (p.Ile1621Thr)
|
rs377412251
|
0.00007
|
NM_004006.3(DMD):c.5675G>A (p.Cys1892Tyr)
|
rs137898199
|
0.00007
|
NM_004006.3(DMD):c.8053G>A (p.Glu2685Lys)
|
rs748937055
|
0.00007
|
NM_004006.3(DMD):c.938C>T (p.Thr313Ile)
|
rs201799335
|
0.00007
|
NM_004100.5(EYA4):c.148A>T (p.Ser50Cys)
|
rs932450184
|
0.00007
|
NM_004281.4(BAG3):c.827G>A (p.Arg276Gln)
|
rs372970842
|
0.00007
|
NM_004281.4(BAG3):c.892G>A (p.Val298Met)
|
rs150048651
|
0.00007
|
NM_004415.4(DSP):c.2941A>G (p.Lys981Glu)
|
rs747580402
|
0.00007
|
NM_004415.4(DSP):c.4901G>A (p.Arg1634Gln)
|
rs144106775
|
0.00007
|
NM_004415.4(DSP):c.5363A>G (p.Gln1788Arg)
|
rs139673146
|
0.00007
|
NM_004415.4(DSP):c.8172G>T (p.Gln2724His)
|
rs372569211
|
0.00007
|
NM_004588.5(SCN2B):c.82C>T (p.Arg28Trp)
|
rs17121819
|
0.00007
|
NM_005477.3(HCN4):c.3397G>C (p.Gly1133Arg)
|
rs532186403
|
0.00007
|
NM_005477.3(HCN4):c.520C>T (p.Pro174Ser)
|
rs542532555
|
0.00007
|
NM_005502.4(ABCA1):c.5690G>A (p.Arg1897Gln)
|
rs564049659
|
0.00007
|
NM_005633.4(SOS1):c.3729C>G (p.Asp1243Glu)
|
rs730881026
|
0.00007
|
NM_005751.5(AKAP9):c.11494C>T (p.Arg3832Cys)
|
rs140053176
|
0.00007
|
NM_005751.5(AKAP9):c.7454C>A (p.Ser2485Tyr)
|
rs373613868
|
0.00007
|
NM_006073.4(TRDN):c.1063G>T (p.Ala355Ser)
|
rs776657049
|
0.00007
|
NM_006073.4(TRDN):c.1187-3C>T
|
rs375421435
|
0.00007
|
NM_006073.4(TRDN):c.1801C>G (p.Pro601Ala)
|
rs376214235
|
0.00007
|
NM_006440.5(TXNRD2):c.611A>G (p.Tyr204Cys)
|
rs199765650
|
0.00007
|
NM_006514.4(SCN10A):c.2105T>G (p.Ile702Ser)
|
rs147482520
|
0.00007
|
NM_006514.4(SCN10A):c.4831G>A (p.Gly1611Arg)
|
rs777980971
|
0.00007
|
NM_006939.4(SOS2):c.2707G>A (p.Val903Met)
|
rs745788940
|
0.00007
|
NM_007078.3(LDB3):c.1289C>A (p.Thr430Asn)
|
rs746183666
|
0.00007
|
NM_007078.3(LDB3):c.422C>T (p.Thr141Ile)
|
rs141078955
|
0.00007
|
NM_014391.3(ANKRD1):c.820T>C (p.Tyr274His)
|
rs377074932
|
0.00007
|
NM_014908.4(DOLK):c.509T>G (p.Val170Gly)
|
rs745609223
|
0.00007
|
NM_016203.4(PRKAG2):c.704T>G (p.Leu235Arg)
|
rs751094298
|
0.00007
|
NM_017636.4(TRPM4):c.1010G>A (p.Arg337His)
|
rs138718906
|
0.00007
|
NM_017636.4(TRPM4):c.1069C>T (p.Arg357Trp)
|
rs764690335
|
0.00007
|
NM_017636.4(TRPM4):c.184G>A (p.Asp62Asn)
|
rs747048335
|
0.00007
|
NM_017636.4(TRPM4):c.2116C>T (p.Arg706Cys)
|
rs199552085
|
0.00007
|
NM_017636.4(TRPM4):c.250G>A (p.Gly84Ser)
|
rs151258293
|
0.00007
|
NM_017636.4(TRPM4):c.2761G>A (p.Val921Ile)
|
rs377359117
|
0.00007
|
NM_017636.4(TRPM4):c.2779-5C>T
|
rs374639233
|
0.00007
|
NM_017636.4(TRPM4):c.2840C>A (p.Ala947Asp)
|
rs368175948
|
0.00007
|
NM_017636.4(TRPM4):c.416G>A (p.Arg139His)
|
rs200360191
|
0.00007
|
NM_017946.4(FKBP14):c.350-5G>A
|
rs763069544
|
0.00007
|
NM_020433.5(JPH2):c.1565G>A (p.Arg522Gln)
|
rs980412081
|
0.00007
|
NM_020778.5(ALPK3):c.2513G>T (p.Cys838Phe)
|
rs202037221
|
0.00007
|
NM_020778.5(ALPK3):c.3137G>A (p.Arg1046His)
|
rs184951836
|
0.00007
|
NM_020778.5(ALPK3):c.3485G>C (p.Gly1162Ala)
|
rs752749949
|
0.00007
|
NM_020778.5(ALPK3):c.3950G>A (p.Gly1317Asp)
|
rs148887150
|
0.00007
|
NM_020778.5(ALPK3):c.3986C>T (p.Ala1329Val)
|
rs140665587
|
0.00007
|
NM_020778.5(ALPK3):c.5002C>T (p.Arg1668Trp)
|
rs148009523
|
0.00007
|
NM_021167.5(GATAD1):c.766A>G (p.Thr256Ala)
|
rs778560008
|
0.00007
|
NM_022436.3(ABCG5):c.116G>A (p.Gly39Asp)
|
rs371929020
|
0.00007
|
NM_022436.3(ABCG5):c.758G>A (p.Arg253His)
|
rs148186696
|
0.00007
|
NM_022437.3(ABCG8):c.586C>T (p.Arg196Trp)
|
rs200433692
|
0.00007
|
NM_032578.4(MYPN):c.140C>T (p.Pro47Leu)
|
rs777446804
|
0.00007
|
NM_032578.4(MYPN):c.185A>C (p.Asp62Ala)
|
rs370768715
|
0.00007
|
NM_144573.4(NEXN):c.1190G>A (p.Arg397Gln)
|
rs201806320
|
0.00007
|
NM_144573.4(NEXN):c.157G>A (p.Glu53Lys)
|
rs373778361
|
0.00007
|
NM_144573.4(NEXN):c.586C>T (p.Arg196Cys)
|
rs369486891
|
0.00007
|
NM_174936.4(PCSK9):c.1492G>A (p.Glu498Lys)
|
rs145468572
|
0.00007
|
NM_174936.4(PCSK9):c.317G>T (p.Gly106Val)
|
rs370751343
|
0.00007
|
NM_181486.4(TBX5):c.1162G>A (p.Glu388Lys)
|
rs139371720
|
0.00007
|
NM_000020.3(ACVRL1):c.682G>A (p.Val228Ile)
|
rs138048445
|
0.00006
|
NM_000071.3(CBS):c.1472G>A (p.Arg491His)
|
rs747419767
|
0.00006
|
NM_000088.4(COL1A1):c.2116G>A (p.Asp706Asn)
|
rs372215246
|
0.00006
|
NM_000088.4(COL1A1):c.3779G>A (p.Arg1260His)
|
rs774001209
|
0.00006
|
NM_000088.4(COL1A1):c.4005+5G>A
|
rs778417218
|
0.00006
|
NM_000089.4(COL1A2):c.2843G>A (p.Arg948His)
|
rs201168934
|
0.00006
|
NM_000089.4(COL1A2):c.3047C>A (p.Pro1016His)
|
rs377278762
|
0.00006
|
NM_000089.4(COL1A2):c.3368G>T (p.Arg1123Leu)
|
rs145541630
|
0.00006
|
NM_000089.4(COL1A2):c.3632T>C (p.Ile1211Thr)
|
rs201746779
|
0.00006
|
NM_000089.4(COL1A2):c.671G>A (p.Arg224His)
|
rs771139732
|
0.00006
|
NM_000089.4(COL1A2):c.949G>A (p.Val317Ile)
|
rs142803502
|
0.00006
|
NM_000138.5(FBN1):c.8311G>A (p.Val2771Ile)
|
rs193922244
|
0.00006
|
NM_000152.5(GAA):c.55G>A (p.Val19Met)
|
rs200343198
|
0.00006
|
NM_000169.3(GLA):c.1093T>A (p.Tyr365Asn)
|
rs367658155
|
0.00006
|
NM_000214.3(JAG1):c.1015G>T (p.Ala339Ser)
|
rs751516838
|
0.00006
|
NM_000214.3(JAG1):c.2300C>T (p.Thr767Met)
|
rs140330283
|
0.00006
|
NM_000214.3(JAG1):c.248A>G (p.Gln83Arg)
|
rs376092818
|
0.00006
|
NM_000214.3(JAG1):c.2527C>T (p.Arg843Trp)
|
rs201608372
|
0.00006
|
NM_000214.3(JAG1):c.316A>G (p.Thr106Ala)
|
rs909905245
|
0.00006
|
NM_000214.3(JAG1):c.3343G>A (p.Val1115Met)
|
rs148373907
|
0.00006
|
NM_000218.3(KCNQ1):c.1733-3T>C
|
rs372912362
|
0.00006
|
NM_000218.3(KCNQ1):c.2017G>A (p.Asp673Asn)
|
rs866169644
|
0.00006
|
NM_000218.3(KCNQ1):c.875G>A (p.Gly292Asp)
|
rs199472736
|
0.00006
|
NM_000219.6(KCNE1):c.-3del
|
rs397515878
|
0.00006
|
NM_000238.4(KCNH2):c.2659C>T (p.Arg887Cys)
|
rs140279503
|
0.00006
|
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg)
|
rs397515912
|
0.00006
|
NM_000256.3(MYBPC3):c.2197C>T (p.Arg733Cys)
|
rs397515956
|
0.00006
|
NM_000256.3(MYBPC3):c.604A>C (p.Lys202Gln)
|
rs730880623
|
0.00006
|
NM_000256.3(MYBPC3):c.752A>T (p.Asn251Ile)
|
rs368588523
|
0.00006
|
NM_000257.4(MYH7):c.1060G>A (p.Gly354Ser)
|
rs727503270
|
0.00006
|
NM_000257.4(MYH7):c.115G>A (p.Val39Met)
|
rs376160714
|
0.00006
|
NM_000257.4(MYH7):c.3116A>G (p.Glu1039Gly)
|
rs199573700
|
0.00006
|
NM_000257.4(MYH7):c.3814G>A (p.Asp1272Asn)
|
rs730880906
|
0.00006
|
NM_000257.4(MYH7):c.4210G>A (p.Val1404Met)
|
rs371552806
|
0.00006
|
NM_000257.4(MYH7):c.4283T>C (p.Leu1428Ser)
|
rs727503244
|
0.00006
|
NM_000257.4(MYH7):c.4353+5G>A
|
rs200436876
|
0.00006
|
NM_000257.4(MYH7):c.4363G>A (p.Glu1455Lys)
|
rs876661373
|
0.00006
|
NM_000257.4(MYH7):c.4709C>A (p.Ala1570Glu)
|
rs730880807
|
0.00006
|
NM_000257.4(MYH7):c.5326A>G (p.Ser1776Gly)
|
rs369437262
|
0.00006
|
NM_000257.4(MYH7):c.5779A>T (p.Ile1927Phe)
|
rs767300277
|
0.00006
|
NM_000257.4(MYH7):c.968T>C (p.Ile323Thr)
|
rs397516275
|
0.00006
|
NM_000335.5(SCN5A):c.1282G>A (p.Glu428Lys)
|
rs199473111
|
0.00006
|
NM_000335.5(SCN5A):c.3032C>T (p.Pro1011Leu)
|
rs369249772
|
0.00006
|
NM_000335.5(SCN5A):c.3343C>T (p.Arg1115Trp)
|
rs199473196
|
0.00006
|
NM_000335.5(SCN5A):c.5689C>T (p.Arg1897Cys)
|
rs373118001
|
0.00006
|
NM_000335.5(SCN5A):c.6001G>A (p.Ala2001Thr)
|
rs771018427
|
0.00006
|
NM_000363.5(TNNI3):c.356C>A (p.Thr119Asn)
|
rs184709702
|
0.00006
|
NM_000384.3(APOB):c.10267G>A (p.Val3423Met)
|
rs199689957
|
0.00006
|
NM_000384.3(APOB):c.11851C>T (p.His3951Tyr)
|
rs1328884551
|
0.00006
|
NM_000384.3(APOB):c.1258G>A (p.Glu420Lys)
|
rs192004342
|
0.00006
|
NM_000384.3(APOB):c.12731C>G (p.Ser4244Cys)
|
rs1052000878
|
0.00006
|
NM_000384.3(APOB):c.2536T>A (p.Leu846Met)
|
rs189880634
|
0.00006
|
NM_000384.3(APOB):c.318C>G (p.Asn106Lys)
|
rs371662800
|
0.00006
|
NM_000384.3(APOB):c.3246A>C (p.Glu1082Asp)
|
rs371987644
|
0.00006
|
NM_000384.3(APOB):c.508A>T (p.Thr170Ser)
|
rs370493370
|
0.00006
|
NM_000384.3(APOB):c.5387C>G (p.Thr1796Ser)
|
rs529168934
|
0.00006
|
NM_000384.3(APOB):c.5560G>A (p.Asp1854Asn)
|
rs138005301
|
0.00006
|
NM_000384.3(APOB):c.5608A>G (p.Thr1870Ala)
|
rs375985550
|
0.00006
|
NM_000384.3(APOB):c.7094C>T (p.Ala2365Val)
|
rs200034452
|
0.00006
|
NM_000384.3(APOB):c.7698G>C (p.Glu2566Asp)
|
rs149306841
|
0.00006
|
NM_000384.3(APOB):c.8047G>C (p.Glu2683Gln)
|
rs373846203
|
0.00006
|
NM_000384.3(APOB):c.8134C>T (p.Arg2712Cys)
|
rs372245645
|
0.00006
|
NM_000384.3(APOB):c.8198T>C (p.Val2733Ala)
|
rs771792572
|
0.00006
|
NM_000384.3(APOB):c.8294A>G (p.Gln2765Arg)
|
rs142796181
|
0.00006
|
NM_000384.3(APOB):c.9407G>A (p.Arg3136His)
|
rs199590149
|
0.00006
|
NM_000384.3(APOB):c.9493A>G (p.Thr3165Ala)
|
rs149166048
|
0.00006
|
NM_000527.5(LDLR):c.1026C>G (p.Asp342Glu)
|
rs780563386
|
0.00006
|
NM_000527.5(LDLR):c.1516G>A (p.Val506Met)
|
rs373848925
|
0.00006
|
NM_000527.5(LDLR):c.2098G>A (p.Asp700Asn)
|
rs375009082
|
0.00006
|
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met)
|
rs138477254
|
0.00006
|
NM_000527.5(LDLR):c.2320G>A (p.Asp774Asn)
|
rs138190838
|
0.00006
|
NM_000527.5(LDLR):c.2397C>T (p.Leu799=)
|
rs367882846
|
0.00006
|
NM_000527.5(LDLR):c.313C>T (p.Pro105Ser)
|
rs13306510
|
0.00006
|
NM_000527.5(LDLR):c.344G>A (p.Arg115His)
|
rs201102461
|
0.00006
|
NM_000527.5(LDLR):c.967G>A (p.Gly323Ser)
|
rs373869746
|
0.00006
|
NM_000719.7(CACNA1C):c.3679G>A (p.Val1227Ile)
|
rs373124557
|
0.00006
|
NM_000719.7(CACNA1C):c.5407C>T (p.Arg1803Trp)
|
rs113157354
|
0.00006
|
NM_000719.7(CACNA1C):c.5510A>G (p.Tyr1837Cys)
|
rs952990263
|
0.00006
|
NM_000722.4(CACNA2D1):c.1086G>A (p.Thr362=)
|
rs148592476
|
0.00006
|
NM_000722.4(CACNA2D1):c.3218T>C (p.Ile1073Thr)
|
rs146250893
|
0.00006
|
NM_000784.4(CYP27A1):c.536A>G (p.Asn179Ser)
|
rs145080072
|
0.00006
|
NM_001005242.3(PKP2):c.1190T>A (p.Ile397Asn)
|
rs772334698
|
0.00006
|
NM_001005242.3(PKP2):c.2332A>G (p.Ile778Val)
|
rs145324631
|
0.00006
|
NM_001005242.3(PKP2):c.985A>C (p.Ser329Arg)
|
rs779173447
|
0.00006
|
NM_001035.3(RYR2):c.10725+4A>T
|
rs116444428
|
0.00006
|
NM_001035.3(RYR2):c.10838+4G>A
|
rs776923037
|
0.00006
|
NM_001035.3(RYR2):c.11974A>C (p.Asn3992His)
|
rs781352451
|
0.00006
|
NM_001035.3(RYR2):c.12076T>G (p.Leu4026Val)
|
rs765141566
|
0.00006
|
NM_001035.3(RYR2):c.13237C>A (p.Pro4413Thr)
|
rs773441342
|
0.00006
|
NM_001035.3(RYR2):c.1511G>A (p.Arg504His)
|
rs201600087
|
0.00006
|
NM_001035.3(RYR2):c.2573C>T (p.Thr858Met)
|
rs377068202
|
0.00006
|
NM_001035.3(RYR2):c.3164G>A (p.Arg1055His)
|
rs757490010
|
0.00006
|
NM_001035.3(RYR2):c.3836G>C (p.Ser1279Thr)
|
rs751419465
|
0.00006
|
NM_001035.3(RYR2):c.6320C>T (p.Thr2107Met)
|
rs370331492
|
0.00006
|
NM_001035.3(RYR2):c.76G>A (p.Ala26Thr)
|
rs368974917
|
0.00006
|
NM_001035.3(RYR2):c.7815G>A (p.Met2605Ile)
|
rs1244019330
|
0.00006
|
NM_001035.3(RYR2):c.8416C>T (p.Arg2806Cys)
|
rs727504134
|
0.00006
|
NM_001035.3(RYR2):c.8437-3T>C
|
rs924080705
|
0.00006
|
NM_001035.3(RYR2):c.9569G>A (p.Arg3190Gln)
|
rs369276868
|
0.00006
|
NM_001077653.2(TBX20):c.10A>T (p.Thr4Ser)
|
rs147393830
|
0.00006
|
NM_001077653.2(TBX20):c.1136T>C (p.Ile379Thr)
|
rs1236811449
|
0.00006
|
NM_001077653.2(TBX20):c.599T>C (p.Met200Thr)
|
rs151183955
|
0.00006
|
NM_001079802.2(FKTN):c.869A>T (p.Lys290Ile)
|
rs755092516
|
0.00006
|
NM_001103.4(ACTN2):c.1288G>C (p.Glu430Gln)
|
rs370865082
|
0.00006
|
NM_001103.4(ACTN2):c.2678A>G (p.Asp893Gly)
|
rs199920384
|
0.00006
|
NM_001105206.3(LAMA4):c.1166A>G (p.His389Arg)
|
rs782618362
|
0.00006
|
NM_001105206.3(LAMA4):c.1318C>T (p.Arg440Trp)
|
rs140911762
|
0.00006
|
NM_001105206.3(LAMA4):c.1420G>A (p.Val474Ile)
|
rs375981026
|
0.00006
|
NM_001105206.3(LAMA4):c.1613C>T (p.Ala538Val)
|
rs782569832
|
0.00006
|
NM_001105206.3(LAMA4):c.1634G>A (p.Arg545His)
|
rs143937452
|
0.00006
|
NM_001105206.3(LAMA4):c.167C>T (p.Ala56Val)
|
rs372763422
|
0.00006
|
NM_001105206.3(LAMA4):c.1960-3T>C
|
rs373682270
|
0.00006
|
NM_001105206.3(LAMA4):c.4168C>T (p.Arg1390Trp)
|
rs200189282
|
0.00006
|
NM_001105206.3(LAMA4):c.4583G>T (p.Arg1528Leu)
|
rs782805733
|
0.00006
|
NM_001105206.3(LAMA4):c.5393T>C (p.Ile1798Thr)
|
rs377204776
|
0.00006
|
NM_001105206.3(LAMA4):c.547A>G (p.Thr183Ala)
|
rs782667094
|
0.00006
|
NM_001105206.3(LAMA4):c.631A>C (p.Asn211His)
|
rs371848733
|
0.00006
|
NM_001105206.3(LAMA4):c.928C>G (p.His310Asp)
|
rs374968791
|
0.00006
|
NM_001134363.3(RBM20):c.1138C>T (p.Arg380Trp)
|
rs540962668
|
0.00006
|
NM_001134363.3(RBM20):c.2152C>G (p.Leu718Val)
|
rs1024449251
|
0.00006
|
NM_001134363.3(RBM20):c.2359G>A (p.Glu787Lys)
|
rs886038886
|
0.00006
|
NM_001134363.3(RBM20):c.2579A>G (p.Glu860Gly)
|
rs758720475
|
0.00006
|
NM_001134363.3(RBM20):c.3245T>G (p.Leu1082Arg)
|
rs878854252
|
0.00006
|
NM_001134363.3(RBM20):c.3268A>T (p.Ile1090Phe)
|
rs371828469
|
0.00006
|
NM_001134363.3(RBM20):c.3478G>A (p.Gly1160Ser)
|
rs374611807
|
0.00006
|
NM_001148.6(ANK2):c.10948G>C (p.Glu3650Gln)
|
rs746987182
|
0.00006
|
NM_001148.6(ANK2):c.11525G>A (p.Arg3842Gln)
|
rs770954138
|
0.00006
|
NM_001148.6(ANK2):c.11813A>G (p.Lys3938Arg)
|
rs568549084
|
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.1423G>A (p.Gly475Arg)
|
rs36210415
|
0.00006
|
NM_001148.6(ANK2):c.85-5C>T
|
rs372560419
|
0.00006
|
NM_001267550.2(TTN):c.102191C>T (p.Ala34064Val)
|
rs149921607
|
0.00006
|
NM_001267550.2(TTN):c.104000T>C (p.Ile34667Thr)
|
rs727504476
|
0.00006
|
NM_001267550.2(TTN):c.104125C>T (p.Arg34709Cys)
|
rs530959653
|
0.00006
|
NM_001267550.2(TTN):c.104591C>T (p.Pro34864Leu)
|
rs72629788
|
0.00006
|
NM_001267550.2(TTN):c.106044C>A (p.Asn35348Lys)
|
rs145560044
|
0.00006
|
NM_001267550.2(TTN):c.106537A>G (p.Lys35513Glu)
|
rs551063889
|
0.00006
|
NM_001267550.2(TTN):c.107357C>T (p.Thr35786Ile)
|
rs749086389
|
0.00006
|
NM_001267550.2(TTN):c.11667G>T (p.Glu3889Asp)
|
rs377423256
|
0.00006
|
NM_001267550.2(TTN):c.1231A>C (p.Thr411Pro)
|
rs911182620
|
0.00006
|
NM_001267550.2(TTN):c.12391T>A (p.Phe4131Ile)
|
rs750186297
|
0.00006
|
NM_001267550.2(TTN):c.12821G>A (p.Ser4274Asn)
|
rs200348414
|
0.00006
|
NM_001267550.2(TTN):c.1370C>T (p.Ala457Val)
|
rs780402263
|
0.00006
|
NM_001267550.2(TTN):c.26468C>T (p.Thr8823Met)
|
rs368151971
|
0.00006
|
NM_001267550.2(TTN):c.3514C>A (p.Leu1172Ile)
|
rs375735354
|
0.00006
|
NM_001267550.2(TTN):c.41812A>G (p.Met13938Val)
|
rs201725483
|
0.00006
|
NM_001267550.2(TTN):c.42509T>C (p.Met14170Thr)
|
rs369623392
|
0.00006
|
NM_001267550.2(TTN):c.43501A>G (p.Thr14501Ala)
|
rs764500643
|
0.00006
|
NM_001267550.2(TTN):c.4462A>G (p.Thr1488Ala)
|
rs146732280
|
0.00006
|
NM_001267550.2(TTN):c.45980G>A (p.Arg15327His)
|
rs374697274
|
0.00006
|
NM_001267550.2(TTN):c.47866G>A (p.Asp15956Asn)
|
rs372881122
|
0.00006
|
NM_001267550.2(TTN):c.48296G>A (p.Arg16099Gln)
|
rs376747673
|
0.00006
|
NM_001267550.2(TTN):c.52139A>T (p.Asp17380Val)
|
rs373305248
|
0.00006
|
NM_001267550.2(TTN):c.52199A>C (p.Glu17400Ala)
|
rs773027240
|
0.00006
|
NM_001267550.2(TTN):c.52891G>A (p.Val17631Ile)
|
rs749503285
|
0.00006
|
NM_001267550.2(TTN):c.53744G>A (p.Arg17915Gln)
|
rs758896047
|
0.00006
|
NM_001267550.2(TTN):c.5665G>T (p.Val1889Phe)
|
rs141105443
|
0.00006
|
NM_001267550.2(TTN):c.56911G>A (p.Val18971Met)
|
rs373153121
|
0.00006
|
NM_001267550.2(TTN):c.57382A>G (p.Met19128Val)
|
rs138367112
|
0.00006
|
NM_001267550.2(TTN):c.57586C>G (p.Leu19196Val)
|
rs397517630
|
0.00006
|
NM_001267550.2(TTN):c.61592G>A (p.Arg20531His)
|
rs370887455
|
0.00006
|
NM_001267550.2(TTN):c.63581T>C (p.Leu21194Pro)
|
rs367838375
|
0.00006
|
NM_001267550.2(TTN):c.64673-5T>C
|
rs530496528
|
0.00006
|
NM_001267550.2(TTN):c.65093G>T (p.Arg21698Leu)
|
rs371581072
|
0.00006
|
NM_001267550.2(TTN):c.65143C>T (p.Arg21715Trp)
|
rs766522121
|
0.00006
|
NM_001267550.2(TTN):c.65915G>A (p.Arg21972His)
|
rs200217934
|
0.00006
|
NM_001267550.2(TTN):c.6608T>C (p.Val2203Ala)
|
rs746433556
|
0.00006
|
NM_001267550.2(TTN):c.67014C>A (p.Asn22338Lys)
|
rs761241302
|
0.00006
|
NM_001267550.2(TTN):c.68981C>T (p.Thr22994Ile)
|
rs183056142
|
0.00006
|
NM_001267550.2(TTN):c.69103G>A (p.Val23035Ile)
|
rs200878877
|
0.00006
|
NM_001267550.2(TTN):c.69412+4T>G
|
rs761388922
|
0.00006
|
NM_001267550.2(TTN):c.6950G>A (p.Arg2317His)
|
rs764882950
|
0.00006
|
NM_001267550.2(TTN):c.70975G>A (p.Gly23659Ser)
|
rs376256345
|
0.00006
|
NM_001267550.2(TTN):c.71149G>T (p.Asp23717Tyr)
|
rs371818894
|
0.00006
|
NM_001267550.2(TTN):c.7157G>A (p.Gly2386Asp)
|
rs142926566
|
0.00006
|
NM_001267550.2(TTN):c.7328A>G (p.Tyr2443Cys)
|
rs369407160
|
0.00006
|
NM_001267550.2(TTN):c.73391G>A (p.Arg24464Gln)
|
rs750056949
|
0.00006
|
NM_001267550.2(TTN):c.73546G>A (p.Val24516Ile)
|
rs72646897
|
0.00006
|
NM_001267550.2(TTN):c.73636G>C (p.Asp24546His)
|
rs1051495269
|
0.00006
|
NM_001267550.2(TTN):c.73847G>A (p.Arg24616Gln)
|
rs201694149
|
0.00006
|
NM_001267550.2(TTN):c.80290G>A (p.Gly26764Arg)
|
rs727505213
|
0.00006
|
NM_001267550.2(TTN):c.80733T>G (p.Ile26911Met)
|
rs371965190
|
0.00006
|
NM_001267550.2(TTN):c.81038G>A (p.Arg27013Gln)
|
rs376374751
|
0.00006
|
NM_001267550.2(TTN):c.81503G>A (p.Arg27168His)
|
rs374160272
|
0.00006
|
NM_001267550.2(TTN):c.82084A>G (p.Ile27362Val)
|
rs886039181
|
0.00006
|
NM_001267550.2(TTN):c.82405C>G (p.Pro27469Ala)
|
rs769678793
|
0.00006
|
NM_001267550.2(TTN):c.83081G>A (p.Arg27694His)
|
rs775499341
|
0.00006
|
NM_001267550.2(TTN):c.83600C>G (p.Pro27867Arg)
|
rs374119634
|
0.00006
|
NM_001267550.2(TTN):c.84436G>A (p.Val28146Ile)
|
rs371366196
|
0.00006
|
NM_001267550.2(TTN):c.84652G>A (p.Gly28218Ser)
|
rs727504693
|
0.00006
|
NM_001267550.2(TTN):c.85462G>A (p.Val28488Ile)
|
rs377264123
|
0.00006
|
NM_001267550.2(TTN):c.87758G>A (p.Ser29253Asn)
|
rs757300589
|
0.00006
|
NM_001267550.2(TTN):c.88622T>C (p.Ile29541Thr)
|
rs768292510
|
0.00006
|
NM_001267550.2(TTN):c.89375C>T (p.Thr29792Ile)
|
rs876658091
|
0.00006
|
NM_001267550.2(TTN):c.92590G>A (p.Asp30864Asn)
|
rs200621611
|
0.00006
|
NM_001267550.2(TTN):c.93031G>A (p.Val31011Met)
|
rs369206712
|
0.00006
|
NM_001267550.2(TTN):c.93442T>C (p.Tyr31148His)
|
rs373131310
|
0.00006
|
NM_001267550.2(TTN):c.9512A>G (p.Asn3171Ser)
|
rs139992576
|
0.00006
|
NM_001267550.2(TTN):c.95305G>A (p.Val31769Ile)
|
rs374445709
|
0.00006
|
NM_001267550.2(TTN):c.96227A>G (p.Asn32076Ser)
|
rs373289373
|
0.00006
|
NM_001267550.2(TTN):c.96230G>A (p.Arg32077Gln)
|
rs369835255
|
0.00006
|
NM_001267550.2(TTN):c.96389C>T (p.Thr32130Met)
|
rs368998895
|
0.00006
|
NM_001267550.2(TTN):c.96424G>A (p.Val32142Ile)
|
rs779663332
|
0.00006
|
NM_001267550.2(TTN):c.96637G>A (p.Asp32213Asn)
|
rs764561909
|
0.00006
|
NM_001267550.2(TTN):c.9674A>G (p.Asn3225Ser)
|
rs202011992
|
0.00006
|
NM_001267550.2(TTN):c.97579G>A (p.Gly32527Ser)
|
rs762160311
|
0.00006
|
NM_001267550.2(TTN):c.97678C>T (p.Arg32560Cys)
|
rs760762257
|
0.00006
|
NM_001289808.2(CRYAB):c.37C>A (p.Pro13Thr)
|
rs1349139935
|
0.00006
|
NM_001365276.2(TNXB):c.1205G>A (p.Arg402His)
|
rs760374196
|
0.00006
|
NM_001365276.2(TNXB):c.2326G>A (p.Val776Met)
|
rs527606803
|
0.00006
|
NM_001365276.2(TNXB):c.3427G>A (p.Val1143Met)
|
rs965570472
|
0.00006
|
NM_001365276.2(TNXB):c.3814G>A (p.Val1272Met)
|
rs749925578
|
0.00006
|
NM_001365276.2(TNXB):c.551C>T (p.Ser184Leu)
|
rs375853200
|
0.00006
|
NM_001365276.2(TNXB):c.6177C>G (p.His2059Gln)
|
rs551447544
|
0.00006
|
NM_001365276.2(TNXB):c.6508C>T (p.Arg2170Trp)
|
rs184875282
|
0.00006
|
NM_001365276.2(TNXB):c.7205G>T (p.Ser2402Ile)
|
rs377384792
|
0.00006
|
NM_001365276.2(TNXB):c.7784A>T (p.Glu2595Val)
|
rs1053418415
|
0.00006
|
NM_001365276.2(TNXB):c.8482G>A (p.Ala2828Thr)
|
rs777104401
|
0.00006
|
NM_001367624.2(ZNF469):c.11060C>T (p.Ser3687Phe)
|
rs745344513
|
0.00006
|
NM_001367624.2(ZNF469):c.11317C>T (p.Arg3773Trp)
|
rs976249492
|
0.00006
|
NM_001367624.2(ZNF469):c.11464G>A (p.Val3822Ile)
|
rs950210847
|
0.00006
|
NM_001367624.2(ZNF469):c.11546G>A (p.Arg3849Gln)
|
rs775672255
|
0.00006
|
NM_001367624.2(ZNF469):c.1781C>T (p.Pro594Leu)
|
rs757534069
|
0.00006
|
NM_001367624.2(ZNF469):c.4012G>A (p.Ala1338Thr)
|
rs891391047
|
0.00006
|
NM_001367624.2(ZNF469):c.4574G>C (p.Ser1525Thr)
|
rs545662898
|
0.00006
|
NM_001367624.2(ZNF469):c.4771G>T (p.Ala1591Ser)
|
rs755066385
|
0.00006
|
NM_001367624.2(ZNF469):c.4919C>T (p.Ala1640Val)
|
rs867915419
|
0.00006
|
NM_001367624.2(ZNF469):c.5014C>T (p.Leu1672Phe)
|
rs754238957
|
0.00006
|
NM_001367624.2(ZNF469):c.5347G>A (p.Ala1783Thr)
|
rs754873241
|
0.00006
|
NM_001367624.2(ZNF469):c.5779C>T (p.Pro1927Ser)
|
rs537085488
|
0.00006
|
NM_001367624.2(ZNF469):c.6340G>A (p.Ala2114Thr)
|
rs1243898549
|
0.00006
|
NM_001367624.2(ZNF469):c.7373C>T (p.Thr2458Ile)
|
rs765397845
|
0.00006
|
NM_001367624.2(ZNF469):c.7574C>T (p.Pro2525Leu)
|
rs756003807
|
0.00006
|
NM_001367624.2(ZNF469):c.8458G>A (p.Gly2820Ser)
|
rs761603858
|
0.00006
|
NM_001367624.2(ZNF469):c.8806G>A (p.Glu2936Lys)
|
rs762301873
|
0.00006
|
NM_001367624.2(ZNF469):c.9008C>T (p.Pro3003Leu)
|
rs774968087
|
0.00006
|
NM_001367624.2(ZNF469):c.9593C>T (p.Ala3198Val)
|
rs1029446515
|
0.00006
|
NM_001368067.1(LDB3):c.415G>A (p.Glu139Lys)
|
rs374613600
|
0.00006
|
NM_001378454.1(ALMS1):c.10354A>G (p.Asn3452Asp)
|
rs573748379
|
0.00006
|
NM_001378454.1(ALMS1):c.11414G>A (p.Arg3805Gln)
|
rs201646938
|
0.00006
|
NM_001378454.1(ALMS1):c.11968C>G (p.Pro3990Ala)
|
rs189851617
|
0.00006
|
NM_001378454.1(ALMS1):c.11971A>G (p.Ile3991Val)
|
rs368146962
|
0.00006
|
NM_001378454.1(ALMS1):c.12330C>G (p.Ile4110Met)
|
rs375524122
|
0.00006
|
NM_001378454.1(ALMS1):c.12389A>G (p.Gln4130Arg)
|
rs371587051
|
0.00006
|
NM_001378454.1(ALMS1):c.1834A>C (p.Thr612Pro)
|
rs775286973
|
0.00006
|
NM_001378454.1(ALMS1):c.2570C>T (p.Ser857Phe)
|
rs538743256
|
0.00006
|
NM_001378454.1(ALMS1):c.3255G>C (p.Gln1085His)
|
rs181507134
|
0.00006
|
NM_001378454.1(ALMS1):c.3568A>G (p.Thr1190Ala)
|
rs772287164
|
0.00006
|
NM_001378454.1(ALMS1):c.4405C>A (p.Pro1469Thr)
|
rs373638043
|
0.00006
|
NM_001378454.1(ALMS1):c.5827C>T (p.Arg1943Cys)
|
rs370398704
|
0.00006
|
NM_001378454.1(ALMS1):c.7359G>T (p.Lys2453Asn)
|
rs1400122858
|
0.00006
|
NM_001378454.1(ALMS1):c.7367T>C (p.Ile2456Thr)
|
rs894421376
|
0.00006
|
NM_001378454.1(ALMS1):c.757C>T (p.Pro253Ser)
|
rs368153355
|
0.00006
|
NM_001378454.1(ALMS1):c.7846C>T (p.Arg2616Trp)
|
rs145383239
|
0.00006
|
NM_001378454.1(ALMS1):c.8168C>A (p.Ser2723Tyr)
|
rs368409205
|
0.00006
|
NM_001378969.1(KCND3):c.1348C>T (p.Leu450Phe)
|
rs150401343
|
0.00006
|
NM_001378969.1(KCND3):c.1889G>A (p.Arg630Gln)
|
rs774713377
|
0.00006
|
NM_001379200.1(TBX1):c.1352G>C (p.Arg451Pro)
|
rs755937050
|
0.00006
|
NM_001458.5(FLNC):c.2596G>A (p.Asp866Asn)
|
rs201006462
|
0.00006
|
NM_001458.5(FLNC):c.3458T>G (p.Phe1153Cys)
|
rs138663492
|
0.00006
|
NM_001458.5(FLNC):c.3772C>T (p.Pro1258Ser)
|
rs374764212
|
0.00006
|
NM_001458.5(FLNC):c.3887C>T (p.Ser1296Leu)
|
rs747587140
|
0.00006
|
NM_001458.5(FLNC):c.469C>T (p.Arg157Cys)
|
rs759739899
|
0.00006
|
NM_001458.5(FLNC):c.4991C>T (p.Thr1664Met)
|
rs780829334
|
0.00006
|
NM_001458.5(FLNC):c.5071G>A (p.Asp1691Asn)
|
rs777061037
|
0.00006
|
NM_001458.5(FLNC):c.5264C>G (p.Ala1755Gly)
|
rs1286156977
|
0.00006
|
NM_001458.5(FLNC):c.5468C>T (p.Thr1823Met)
|
rs140857707
|
0.00006
|
NM_001458.5(FLNC):c.5791C>T (p.Arg1931Cys)
|
rs562155863
|
0.00006
|
NM_001458.5(FLNC):c.6134G>A (p.Arg2045Gln)
|
rs747196571
|
0.00006
|
NM_001458.5(FLNC):c.7090C>T (p.Arg2364Cys)
|
rs374973240
|
0.00006
|
NM_001458.5(FLNC):c.7366G>A (p.Val2456Ile)
|
rs770796119
|
0.00006
|
NM_001927.4(DES):c.299A>C (p.Glu100Ala)
|
rs762738069
|
0.00006
|
NM_001943.5(DSG2):c.1949C>T (p.Thr650Ile)
|
rs373512167
|
0.00006
|
NM_001943.5(DSG2):c.2033G>C (p.Gly678Ala)
|
rs372494397
|
0.00006
|
NM_001943.5(DSG2):c.98A>G (p.Asn33Ser)
|
rs727505205
|
0.00006
|
NM_001999.4(FBN2):c.7963G>A (p.Glu2655Lys)
|
rs753526426
|
0.00006
|
NM_002230.4(JUP):c.109G>A (p.Val37Ile)
|
rs150769772
|
0.00006
|
NM_002230.4(JUP):c.1520A>G (p.Asn507Ser)
|
rs1555599849
|
0.00006
|
NM_002294.3(LAMP2):c.443A>G (p.Asn148Ser)
|
rs766491800
|
0.00006
|
NM_002317.7(LOX):c.460C>T (p.Leu154Phe)
|
rs767855588
|
0.00006
|
NM_002317.7(LOX):c.463A>G (p.Ser155Gly)
|
rs775070523
|
0.00006
|
NM_002317.7(LOX):c.741T>G (p.Ser247Arg)
|
rs768419742
|
0.00006
|
NM_002471.4(MYH6):c.100C>T (p.Arg34Cys)
|
rs765792077
|
0.00006
|
NM_002471.4(MYH6):c.1327C>T (p.Arg443Cys)
|
rs182373896
|
0.00006
|
NM_002471.4(MYH6):c.1328G>A (p.Arg443His)
|
rs202096001
|
0.00006
|
NM_002471.4(MYH6):c.1628A>G (p.Lys543Arg)
|
rs367663906
|
0.00006
|
NM_002471.4(MYH6):c.1702C>T (p.Arg568Cys)
|
rs149650190
|
0.00006
|
NM_002471.4(MYH6):c.2258T>C (p.Ile753Thr)
|
rs369729808
|
0.00006
|
NM_002471.4(MYH6):c.226G>A (p.Val76Met)
|
rs977234074
|
0.00006
|
NM_002471.4(MYH6):c.2306C>T (p.Ala769Val)
|
rs139182991
|
0.00006
|
NM_002471.4(MYH6):c.2600A>G (p.Lys867Arg)
|
rs143284278
|
0.00006
|
NM_002471.4(MYH6):c.2685G>A (p.Ala895=)
|
rs752345245
|
0.00006
|
NM_002471.4(MYH6):c.2716C>T (p.Arg906Cys)
|
rs143928061
|
0.00006
|
NM_002471.4(MYH6):c.2738A>G (p.Asn913Ser)
|
rs138213182
|
0.00006
|
NM_002471.4(MYH6):c.3073T>A (p.Ser1025Thr)
|
rs371209775
|
0.00006
|
NM_002471.4(MYH6):c.3427C>T (p.Arg1143Trp)
|
rs755209382
|
0.00006
|
NM_002471.4(MYH6):c.3619G>A (p.Glu1207Lys)
|
rs397516762
|
0.00006
|
NM_002471.4(MYH6):c.3923T>G (p.Leu1308Arg)
|
rs776486154
|
0.00006
|
NM_002471.4(MYH6):c.4216G>A (p.Val1406Met)
|
rs201566738
|
0.00006
|
NM_002471.4(MYH6):c.4573G>A (p.Val1525Met)
|
rs900579440
|
0.00006
|
NM_002471.4(MYH6):c.4723G>A (p.Glu1575Lys)
|
rs371067114
|
0.00006
|
NM_002471.4(MYH6):c.4747G>A (p.Glu1583Lys)
|
rs397516771
|
0.00006
|
NM_002471.4(MYH6):c.5095C>T (p.Arg1699Trp)
|
rs766345714
|
0.00006
|
NM_002471.4(MYH6):c.5102G>A (p.Arg1701Gln)
|
rs762103586
|
0.00006
|
NM_002471.4(MYH6):c.5141G>C (p.Arg1714Pro)
|
rs777682189
|
0.00006
|
NM_002471.4(MYH6):c.5257G>C (p.Ala1753Pro)
|
rs142437308
|
0.00006
|
NM_002471.4(MYH6):c.5458C>T (p.Arg1820Trp)
|
rs111473291
|
0.00006
|
NM_002471.4(MYH6):c.5656G>A (p.Glu1886Lys)
|
rs138864419
|
0.00006
|
NM_002709.3(PPP1CB):c.968C>T (p.Pro323Leu)
|
rs202171795
|
0.00006
|
NM_002755.4(MAP2K1):c.277G>A (p.Val93Ile)
|
rs151207265
|
0.00006
|
NM_002880.4(RAF1):c.1814C>T (p.Ser605Phe)
|
rs730881004
|
0.00006
|
NM_003098.3(SNTA1):c.1147G>A (p.Val383Met)
|
rs767361112
|
0.00006
|
NM_003280.3(TNNC1):c.195C>T (p.Asp65=)
|
rs370426309
|
0.00006
|
NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro)
|
rs104894205
|
0.00006
|
NM_003673.4(TCAP):c.226C>T (p.Arg76Cys)
|
rs572836774
|
0.00006
|
NM_003673.4(TCAP):c.480G>A (p.Met160Ile)
|
rs755395354
|
0.00006
|
NM_003803.4(MYOM1):c.2717A>C (p.Glu906Ala)
|
rs760763098
|
0.00006
|
NM_004006.3(DMD):c.11041A>T (p.Arg3681Ter)
|
rs1477369230
|
0.00006
|
NM_004006.3(DMD):c.2209C>T (p.Arg737Cys)
|
rs762960280
|
0.00006
|
NM_004006.3(DMD):c.3082C>T (p.Arg1028Cys)
|
rs146384458
|
0.00006
|
NM_004006.3(DMD):c.43G>C (p.Asp15His)
|
rs876657780
|
0.00006
|
NM_004006.3(DMD):c.5599C>G (p.Gln1867Glu)
|
rs144718274
|
0.00006
|
NM_004006.3(DMD):c.6863A>G (p.Gln2288Arg)
|
rs762708936
|
0.00006
|
NM_004006.3(DMD):c.7187C>T (p.Thr2396Ile)
|
rs1057519106
|
0.00006
|
NM_004006.3(DMD):c.8219A>G (p.Asp2740Gly)
|
rs771051897
|
0.00006
|
NM_004006.3(DMD):c.8399T>C (p.Leu2800Ser)
|
rs398124071
|
0.00006
|
NM_004100.5(EYA4):c.252T>A (p.Ser84Arg)
|
rs758076073
|
0.00006
|
NM_004281.4(BAG3):c.-4C>T
|
rs727502894
|
0.00006
|
NM_004281.4(BAG3):c.1214C>T (p.Ala405Val)
|
rs11199064
|
0.00006
|
NM_004281.4(BAG3):c.1523A>G (p.Tyr508Cys)
|
rs747583925
|
0.00006
|
NM_004281.4(BAG3):c.167C>G (p.Ser56Cys)
|
rs777100532
|
0.00006
|
NM_004281.4(BAG3):c.487C>T (p.Pro163Ser)
|
rs746956979
|
0.00006
|
NM_004281.4(BAG3):c.574G>A (p.Gly192Ser)
|
rs201487919
|
0.00006
|
NM_004281.4(BAG3):c.785C>T (p.Ala262Val)
|
rs397516883
|
0.00006
|
NM_004387.4(NKX2-5):c.65A>G (p.Gln22Arg)
|
rs201442000
|
0.00006
|
NM_004415.4(DSP):c.2122G>A (p.Glu708Lys)
|
rs773113261
|
0.00006
|
NM_004415.4(DSP):c.3294C>G (p.Asp1098Glu)
|
rs535762713
|
0.00006
|
NM_004415.4(DSP):c.3304G>A (p.Gly1102Ser)
|
rs2491079
|
0.00006
|
NM_004415.4(DSP):c.3836C>T (p.Ala1279Val)
|
rs753270443
|
0.00006
|
NM_004415.4(DSP):c.4022G>A (p.Arg1341His)
|
rs112242645
|
0.00006
|
NM_004415.4(DSP):c.4117A>G (p.Thr1373Ala)
|
rs200745877
|
0.00006
|
NM_004415.4(DSP):c.4793T>A (p.Leu1598Gln)
|
rs369449858
|
0.00006
|
NM_004415.4(DSP):c.5417C>G (p.Thr1806Ser)
|
rs149773722
|
0.00006
|
NM_004415.4(DSP):c.6188G>A (p.Arg2063Gln)
|
rs142927608
|
0.00006
|
NM_004415.4(DSP):c.6511A>G (p.Asn2171Asp)
|
rs149827779
|
0.00006
|
NM_004444.5(EPHB4):c.1300C>T (p.Pro434Ser)
|
rs764213009
|
0.00006
|
NM_004588.5(SCN2B):c.478G>A (p.Val160Met)
|
rs774317271
|
0.00006
|
NM_004588.5(SCN2B):c.629C>T (p.Pro210Leu)
|
rs144248214
|
0.00006
|
NM_005472.5(KCNE3):c.120C>G (p.Asp40Glu)
|
rs141880803
|
0.00006
|
NM_005477.3(HCN4):c.1636G>A (p.Asp546Asn)
|
rs370884239
|
0.00006
|
NM_005477.3(HCN4):c.2605G>A (p.Ala869Thr)
|
rs775134377
|
0.00006
|
NM_005477.3(HCN4):c.2917G>A (p.Gly973Arg)
|
rs200495478
|
0.00006
|
NM_005477.3(HCN4):c.3461G>A (p.Arg1154Gln)
|
rs145862018
|
0.00006
|
NM_005477.3(HCN4):c.434C>T (p.Pro145Leu)
|
rs768272301
|
0.00006
|
NM_005477.3(HCN4):c.597G>T (p.Gln199His)
|
rs768734319
|
0.00006
|
NM_005477.3(HCN4):c.995G>A (p.Arg332Gln)
|
rs368164073
|
0.00006
|
NM_005502.4(ABCA1):c.5492C>T (p.Ala1831Val)
|
rs753324965
|
0.00006
|
NM_005502.4(ABCA1):c.6557C>T (p.Ser2186Phe)
|
rs372207376
|
0.00006
|
NM_005633.4(SOS1):c.2225T>C (p.Ile742Thr)
|
rs767494615
|
0.00006
|
NM_005633.4(SOS1):c.3515T>C (p.Met1172Thr)
|
rs537874171
|
0.00006
|
NM_005633.4(SOS1):c.3769A>G (p.Thr1257Ala)
|
rs553805862
|
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.1396C>T (p.Arg466Trp)
|
rs373876340
|
0.00006
|
NM_005751.5(AKAP9):c.3350G>A (p.Arg1117His)
|
rs546600149
|
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.5468A>T (p.Gln1823Leu)
|
rs147772200
|
0.00006
|
NM_005751.5(AKAP9):c.5705G>A (p.Arg1902His)
|
rs369082700
|
0.00006
|
NM_005751.5(AKAP9):c.7314A>T (p.Glu2438Asp)
|
rs138468216
|
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_006073.4(TRDN):c.1105G>A (p.Ala369Thr)
|
rs369198088
|
0.00006
|
NM_006073.4(TRDN):c.2084A>T (p.Asp695Val)
|
rs202040879
|
0.00006
|
NM_006073.4(TRDN):c.550G>T (p.Ala184Ser)
|
rs576028226
|
0.00006
|
NM_006440.5(TXNRD2):c.1091G>A (p.Arg364Gln)
|
rs199734322
|
0.00006
|
NM_006440.5(TXNRD2):c.1126A>G (p.Arg376Gly)
|
rs371547623
|
0.00006
|
NM_006440.5(TXNRD2):c.1157C>A (p.Ser386Tyr)
|
rs377598025
|
0.00006
|
NM_006440.5(TXNRD2):c.1559C>G (p.Thr520Arg)
|
rs774708598
|
0.00006
|
NM_006440.5(TXNRD2):c.820C>T (p.Arg274Trp)
|
rs571571452
|
0.00006
|
NM_006514.4(SCN10A):c.3439C>T (p.Arg1147Cys)
|
rs373470651
|
0.00006
|
NM_006939.4(SOS2):c.3868C>G (p.Pro1290Ala)
|
rs761580972
|
0.00006
|
NM_006939.4(SOS2):c.674G>A (p.Arg225Gln)
|
rs780580623
|
0.00006
|
NM_007078.3(LDB3):c.533G>A (p.Arg178Gln)
|
rs143311349
|
0.00006
|
NM_007078.3(LDB3):c.676G>A (p.Gly226Arg)
|
rs771099131
|
0.00006
|
NM_007078.3(LDB3):c.713C>A (p.Ala238Asp)
|
rs369398522
|
0.00006
|
NM_012186.3(FOXE3):c.457G>C (p.Asp153His)
|
rs367943249
|
0.00006
|
NM_014000.3(VCL):c.1195A>C (p.Asn399His)
|
rs377228795
|
0.00006
|
NM_014000.3(VCL):c.2467C>T (p.Arg823Trp)
|
rs779047174
|
0.00006
|
NM_014000.3(VCL):c.2468G>A (p.Arg823Gln)
|
rs759202535
|
0.00006
|
NM_014000.3(VCL):c.2531C>T (p.Pro844Leu)
|
rs145393322
|
0.00006
|
NM_014391.3(ANKRD1):c.544C>T (p.Arg182Cys)
|
rs754717867
|
0.00006
|
NM_014908.4(DOLK):c.1139G>A (p.Arg380His)
|
rs553112177
|
0.00006
|
NM_014908.4(DOLK):c.323A>G (p.Glu108Gly)
|
rs779008975
|
0.00006
|
NM_014908.4(DOLK):c.914C>G (p.Ser305Cys)
|
rs766759178
|
0.00006
|
NM_015141.4(GPD1L):c.1004G>A (p.Arg335Lys)
|
rs369439723
|
0.00006
|
NM_015141.4(GPD1L):c.658C>T (p.Arg220Cys)
|
rs72546647
|
0.00006
|
NM_016203.4(PRKAG2):c.206C>T (p.Pro69Leu)
|
rs182750960
|
0.00006
|
NM_016203.4(PRKAG2):c.514C>G (p.Gln172Glu)
|
rs730880972
|
0.00006
|
NM_016599.5(MYOZ2):c.745A>G (p.Thr249Ala)
|
rs762234986
|
0.00006
|
NM_016938.5(EFEMP2):c.1234G>T (p.Val412Leu)
|
rs146879673
|
0.00006
|
NM_016938.5(EFEMP2):c.290C>T (p.Pro97Leu)
|
rs779247685
|
0.00006
|
NM_016938.5(EFEMP2):c.506G>A (p.Arg169His)
|
rs141310608
|
0.00006
|
NM_016938.5(EFEMP2):c.628G>A (p.Gly210Arg)
|
rs546162289
|
0.00006
|
NM_017636.4(TRPM4):c.1817C>G (p.Ala606Gly)
|
rs771088249
|
0.00006
|
NM_017636.4(TRPM4):c.1826C>G (p.Ala609Gly)
|
rs547541099
|
0.00006
|
NM_017636.4(TRPM4):c.2732C>T (p.Thr911Met)
|
rs148006852
|
0.00006
|
NM_017636.4(TRPM4):c.3304T>G (p.Ser1102Ala)
|
rs759574423
|
0.00006
|
NM_020297.4(ABCC9):c.1979G>A (p.Arg660Gln)
|
rs150255709
|
0.00006
|
NM_020297.4(ABCC9):c.2784C>G (p.Asp928Glu)
|
rs139472403
|
0.00006
|
NM_020433.5(JPH2):c.1433C>T (p.Pro478Leu)
|
rs970525996
|
0.00006
|
NM_020433.5(JPH2):c.1486C>T (p.Arg496Trp)
|
rs863224775
|
0.00006
|
NM_020433.5(JPH2):c.349G>A (p.Gly117Ser)
|
rs1414551155
|
0.00006
|
NM_020778.4(ALPK3):c.301G>A (p.Gly101Arg)
|
rs868375261
|
0.00006
|
NM_020778.5(ALPK3):c.1616C>T (p.Thr539Met)
|
rs750057517
|
0.00006
|
NM_020778.5(ALPK3):c.256C>T (p.Arg86Trp)
|
rs201202701
|
0.00006
|
NM_020778.5(ALPK3):c.2753C>T (p.Thr918Ile)
|
rs202161551
|
0.00006
|
NM_020778.5(ALPK3):c.3113G>A (p.Arg1038His)
|
rs146371614
|
0.00006
|
NM_020778.5(ALPK3):c.3319C>G (p.Gln1107Glu)
|
rs767926913
|
0.00006
|
NM_020778.5(ALPK3):c.3736G>A (p.Gly1246Ser)
|
rs765178304
|
0.00006
|
NM_020778.5(ALPK3):c.4309G>A (p.Glu1437Lys)
|
rs747233148
|
0.00006
|
NM_020778.5(ALPK3):c.4726G>A (p.Val1576Ile)
|
rs769823625
|
0.00006
|
NM_021167.5(GATAD1):c.-3A>G
|
rs776854919
|
0.00006
|
NM_021167.5(GATAD1):c.770C>T (p.Pro257Leu)
|
rs145306938
|
0.00006
|
NM_022436.3(ABCG5):c.1856G>C (p.Arg619Thr)
|
rs374012053
|
0.00006
|
NM_022436.3(ABCG5):c.78G>T (p.Glu26Asp)
|
rs144622073
|
0.00006
|
NM_022436.3(ABCG5):c.98C>G (p.Pro33Arg)
|
rs778605187
|
0.00006
|
NM_022437.3(ABCG8):c.1715T>C (p.Leu572Pro)
|
rs769576789
|
0.00006
|
NM_022437.3(ABCG8):c.1752G>C (p.Trp584Cys)
|
rs754182905
|
0.00006
|
NM_022437.3(ABCG8):c.1754C>T (p.Thr585Ile)
|
rs1186922426
|
0.00006
|
NM_022437.3(ABCG8):c.611G>A (p.Arg204His)
|
rs144730815
|
0.00006
|
NM_024301.5(FKRP):c.541C>A (p.Arg181Ser)
|
rs777245868
|
0.00006
|
NM_024301.5(FKRP):c.562G>A (p.Ala188Thr)
|
rs746905689
|
0.00006
|
NM_024301.5(FKRP):c.563C>T (p.Ala188Val)
|
rs768762059
|
0.00006
|
NM_024334.3(TMEM43):c.214G>A (p.Val72Met)
|
rs368603914
|
0.00006
|
NM_024334.3(TMEM43):c.578C>T (p.Ser193Leu)
|
rs140380494
|
0.00006
|
NM_024422.6(DSC2):c.2162C>T (p.Thr721Met)
|
rs759513934
|
0.00006
|
NM_024422.6(DSC2):c.2245A>C (p.Lys749Gln)
|
rs765067237
|
0.00006
|
NM_024422.6(DSC2):c.2603C>T (p.Ser868Phe)
|
rs141873745
|
0.00006
|
NM_024422.6(DSC2):c.266C>T (p.Ser89Leu)
|
rs141379407
|
0.00006
|
NM_030777.4(SLC2A10):c.610G>A (p.Gly204Ser)
|
rs755339268
|
0.00006
|
NM_032578.4(MYPN):c.1103G>A (p.Gly368Asp)
|
rs555527385
|
0.00006
|
NM_032578.4(MYPN):c.1130+3A>C
|
rs770005365
|
0.00006
|
NM_032578.4(MYPN):c.1466G>A (p.Arg489Gln)
|
rs141031460
|
0.00006
|
NM_032578.4(MYPN):c.1757A>G (p.Asn586Ser)
|
rs550455783
|
0.00006
|
NM_032578.4(MYPN):c.2507C>T (p.Ser836Phe)
|
rs376141715
|
0.00006
|
NM_032578.4(MYPN):c.2974T>G (p.Cys992Gly)
|
rs367955895
|
0.00006
|
NM_032578.4(MYPN):c.3440T>A (p.Ile1147Asn)
|
rs201600440
|
0.00006
|
NM_032578.4(MYPN):c.3763G>A (p.Val1255Met)
|
rs750655311
|
0.00006
|
NM_032578.4(MYPN):c.782A>G (p.Tyr261Cys)
|
rs148034353
|
0.00006
|
NM_130468.4(CHST14):c.1118C>T (p.Ala373Val)
|
rs756985970
|
0.00006
|
NM_144573.4(NEXN):c.1189C>T (p.Arg397Trp)
|
rs754281087
|
0.00006
|
NM_144573.4(NEXN):c.1957A>G (p.Met653Val)
|
rs765745920
|
0.00006
|
NM_144573.4(NEXN):c.2012T>C (p.Ile671Thr)
|
rs747781785
|
0.00006
|
NM_144573.4(NEXN):c.250G>A (p.Glu84Lys)
|
rs547319928
|
0.00006
|
NM_144573.4(NEXN):c.447+5C>T
|
rs727503343
|
0.00006
|
NM_144573.4(NEXN):c.687+4A>T
|
rs754061340
|
0.00006
|
NM_152594.3(SPRED1):c.1283G>A (p.Arg428His)
|
rs369492789
|
0.00006
|
NM_152594.3(SPRED1):c.640C>T (p.Arg214Trp)
|
rs376699107
|
0.00006
|
NM_170707.4(LMNA):c.1004G>A (p.Arg335Gln)
|
rs138592977
|
0.00006
|
NM_170707.4(LMNA):c.1567G>A (p.Gly523Arg)
|
rs201583907
|
0.00006
|
NM_174934.4(SCN4B):c.469G>C (p.Glu157Gln)
|
rs746647997
|
0.00006
|
NM_174936.4(PCSK9):c.166C>T (p.Pro56Ser)
|
rs775521571
|
0.00006
|
NM_174936.4(PCSK9):c.1976G>T (p.Arg659Leu)
|
rs780214893
|
0.00006
|
NM_174936.4(PCSK9):c.310C>T (p.Arg104Cys)
|
rs369067856
|
0.00006
|
NM_178172.6(GPIHBP1):c.31C>T (p.Leu11Phe)
|
rs370545732
|
0.00006
|
NM_181486.4(TBX5):c.1396G>A (p.Val466Met)
|
rs765443283
|
0.00006
|
NM_201596.3(CACNB2):c.1178T>C (p.Ile393Thr)
|
rs139749312
|
0.00006
|
NM_201596.3(CACNB2):c.1180G>A (p.Val394Ile)
|
rs149793143
|
0.00006
|
NM_201596.3(CACNB2):c.1303-4G>A
|
rs765944934
|
0.00006
|
NM_201596.3(CACNB2):c.1681G>A (p.Glu561Lys)
|
rs199714857
|
0.00006
|
NM_201596.3(CACNB2):c.1708C>G (p.Pro570Ala)
|
rs151274272
|
0.00006
|
NM_201596.3(CACNB2):c.1822C>T (p.Arg608Cys)
|
rs994878062
|
0.00006
|
NM_000039.3(APOA1):c.526G>A (p.Ala176Thr)
|
rs146623682
|
0.00005
|
NM_000088.4(COL1A1):c.1200+5G>A
|
rs374322003
|
0.00005
|
NM_000089.4(COL1A2):c.1268G>A (p.Arg423His)
|
rs764780528
|
0.00005
|
NM_000089.4(COL1A2):c.1880T>C (p.Val627Ala)
|
rs760732696
|
0.00005
|
NM_000089.4(COL1A2):c.701G>A (p.Arg234His)
|
rs376341785
|
0.00005
|
NM_000117.3(EMD):c.166G>A (p.Ala56Thr)
|
rs1057520579
|
0.00005
|
NM_000117.3(EMD):c.215A>T (p.Asp72Val)
|
rs794729021
|
0.00005
|
NM_000152.5(GAA):c.2408A>G (p.Gln803Arg)
|
rs142487534
|
0.00005
|
NM_000169.3(GLA):c.619T>C (p.Tyr207His)
|
rs372416832
|
0.00005
|
NM_000169.3(GLA):c.755G>C (p.Arg252Thr)
|
rs147026639
|
0.00005
|
NM_000214.3(JAG1):c.1195G>A (p.Val399Met)
|
rs181970528
|
0.00005
|
NM_000214.3(JAG1):c.2287G>A (p.Gly763Ser)
|
rs746939887
|
0.00005
|
NM_000214.3(JAG1):c.2927C>T (p.Thr976Met)
|
rs751809412
|
0.00005
|
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.1885G>A (p.Gly629Ser)
|
rs775608046
|
0.00005
|
NM_000218.3(KCNQ1):c.197C>A (p.Ser66Tyr)
|
rs199473446
|
0.00005
|
NM_000218.3(KCNQ1):c.860C>A (p.Ala287Glu)
|
rs199472735
|
0.00005
|
NM_000238.4(KCNH2):c.2696C>T (p.Thr899Met)
|
rs1480554629
|
0.00005
|
NM_000238.4(KCNH2):c.491G>A (p.Arg164His)
|
rs199472866
|
0.00005
|
NM_000256.3(MYBPC3):c.1372C>T (p.Arg458Cys)
|
rs377577698
|
0.00005
|
NM_000256.3(MYBPC3):c.1672G>A (p.Ala558Thr)
|
rs727503198
|
0.00005
|
NM_000256.3(MYBPC3):c.1789C>T (p.Arg597Trp)
|
rs201596087
|
0.00005
|
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys)
|
rs730880555
|
0.00005
|
NM_000256.3(MYBPC3):c.187C>T (p.Arg63Trp)
|
rs373315466
|
0.00005
|
NM_000256.3(MYBPC3):c.3123C>T (p.Gly1041=)
|
rs374626656
|
0.00005
|
NM_000256.3(MYBPC3):c.3190+4C>T
|
rs571457875
|
0.00005
|
NM_000256.3(MYBPC3):c.3569G>A (p.Arg1190His)
|
rs117354682
|
0.00005
|
NM_000256.3(MYBPC3):c.3799C>T (p.Arg1267Cys)
|
rs765825263
|
0.00005
|
NM_000256.3(MYBPC3):c.836G>C (p.Gly279Ala)
|
rs375774648
|
0.00005
|
NM_000257.4(MYH7):c.4294G>A (p.Val1432Ile)
|
rs144200285
|
0.00005
|
NM_000257.4(MYH7):c.4840G>A (p.Val1614Met)
|
rs1200299259
|
0.00005
|
NM_000257.4(MYH7):c.5243G>A (p.Cys1748Tyr)
|
rs200303340
|
0.00005
|
NM_000257.4(MYH7):c.5559+4C>T
|
rs727504319
|
0.00005
|
NM_000335.5(SCN5A):c.1654G>T (p.Gly552Trp)
|
rs3918389
|
0.00005
|
NM_000335.5(SCN5A):c.2077C>T (p.Arg693Cys)
|
rs375306544
|
0.00005
|
NM_000335.5(SCN5A):c.3232T>A (p.Ser1078Thr)
|
rs376183542
|
0.00005
|
NM_000335.5(SCN5A):c.3521G>A (p.Arg1174His)
|
rs374314562
|
0.00005
|
NM_000335.5(SCN5A):c.4811-5C>T
|
rs765962519
|
0.00005
|
NM_000371.4(TTR):c.13C>T (p.Arg5Cys)
|
rs144792001
|
0.00005
|
NM_000371.4(TTR):c.385G>A (p.Ala129Thr)
|
rs267607159
|
0.00005
|
NM_000384.3(APOB):c.11018A>G (p.Lys3673Arg)
|
rs374411400
|
0.00005
|
NM_000384.3(APOB):c.12614C>T (p.Pro4205Leu)
|
rs375471570
|
0.00005
|
NM_000384.3(APOB):c.2657A>G (p.Asn886Ser)
|
rs183398286
|
0.00005
|
NM_000384.3(APOB):c.6125T>C (p.Met2042Thr)
|
rs371224295
|
0.00005
|
NM_000384.3(APOB):c.7057C>A (p.Gln2353Lys)
|
rs758067709
|
0.00005
|
NM_000384.3(APOB):c.7655A>G (p.Asp2552Gly)
|
rs779100523
|
0.00005
|
NM_000432.4(MYL2):c.433G>A (p.Asp145Asn)
|
rs199567559
|
0.00005
|
NM_000432.4(MYL2):c.469C>T (p.His157Tyr)
|
rs777223055
|
0.00005
|
NM_000719.7(CACNA1C):c.107C>T (p.Ala36Val)
|
rs755028000
|
0.00005
|
NM_000719.7(CACNA1C):c.5144G>A (p.Arg1715Gln)
|
rs376706496
|
0.00005
|
NM_000719.7(CACNA1C):c.76G>A (p.Ala26Thr)
|
rs369483452
|
0.00005
|
NM_000722.4(CACNA2D1):c.2791C>G (p.Gln931Glu)
|
rs145110338
|
0.00005
|
NM_000722.4(CACNA2D1):c.2861C>T (p.Thr954Met)
|
rs111888027
|
0.00005
|
NM_000722.4(CACNA2D1):c.2914G>A (p.Asp972Asn)
|
rs776720930
|
0.00005
|
NM_000891.3(KCNJ2):c.208G>T (p.Ala70Ser)
|
rs375605948
|
0.00005
|
NM_001005242.3(PKP2):c.1451C>T (p.Thr484Met)
|
rs774942476
|
0.00005
|
NM_001005242.3(PKP2):c.1809T>G (p.Cys603Trp)
|
rs767935208
|
0.00005
|
NM_001005242.3(PKP2):c.895C>T (p.Arg299Cys)
|
rs564987195
|
0.00005
|
NM_001005242.3(PKP2):c.974C>T (p.Ala325Val)
|
rs201803918
|
0.00005
|
NM_001035.3(RYR2):c.11206G>A (p.Ala3736Thr)
|
rs375095599
|
0.00005
|
NM_001035.3(RYR2):c.13600C>T (p.Pro4534Ser)
|
rs199624074
|
0.00005
|
NM_001035.3(RYR2):c.1973A>G (p.Asn658Ser)
|
rs2009813
|
0.00005
|
NM_001035.3(RYR2):c.2039A>G (p.Asp680Gly)
|
rs758835308
|
0.00005
|
NM_001035.3(RYR2):c.8147A>T (p.Lys2716Ile)
|
rs749618476
|
0.00005
|
NM_001035.3(RYR2):c.815G>T (p.Arg272Leu)
|
rs377368967
|
0.00005
|
NM_001035.3(RYR2):c.9251G>A (p.Arg3084Gln)
|
rs747605864
|
0.00005
|
NM_001077653.2(TBX20):c.86C>G (p.Ser29Cys)
|
rs13237089
|
0.00005
|
NM_001079802.2(FKTN):c.437G>A (p.Arg146Gln)
|
rs143748939
|
0.00005
|
NM_001103.4(ACTN2):c.127-3C>A
|
rs368775036
|
0.00005
|
NM_001103.4(ACTN2):c.1324C>T (p.Arg442Trp)
|
rs769073315
|
0.00005
|
NM_001103.4(ACTN2):c.2497G>A (p.Ala833Thr)
|
rs200854335
|
0.00005
|
NM_001103.4(ACTN2):c.278G>A (p.Arg93Gln)
|
rs777124854
|
0.00005
|
NM_001105206.3(LAMA4):c.1837A>G (p.Met613Val)
|
rs371083384
|
0.00005
|
NM_001105206.3(LAMA4):c.2214C>T (p.Thr738=)
|
rs782058486
|
0.00005
|
NM_001105206.3(LAMA4):c.2626G>A (p.Glu876Lys)
|
rs147206383
|
0.00005
|
NM_001105206.3(LAMA4):c.3406T>C (p.Tyr1136His)
|
rs148462898
|
0.00005
|
NM_001105206.3(LAMA4):c.4572G>C (p.Leu1524Phe)
|
rs145315273
|
0.00005
|
NM_001134363.3(RBM20):c.3217G>A (p.Glu1073Lys)
|
rs770328474
|
0.00005
|
NM_001134363.3(RBM20):c.523A>G (p.Ser175Gly)
|
rs553309602
|
0.00005
|
NM_001148.6(ANK2):c.11557G>A (p.Asp3853Asn)
|
rs754642933
|
0.00005
|
NM_001148.6(ANK2):c.229G>A (p.Val77Met)
|
rs776254819
|
0.00005
|
NM_001159699.2(FHL1):c.53C>T (p.Ala18Val)
|
rs146125558
|
0.00005
|
NM_001159699.2(FHL1):c.817G>A (p.Val273Met)
|
rs190006104
|
0.00005
|
NM_001232.4(CASQ2):c.158G>T (p.Cys53Phe)
|
rs151168851
|
0.00005
|
NM_001232.4(CASQ2):c.173A>T (p.Glu58Val)
|
rs764732977
|
0.00005
|
NM_001267550.2(TTN):c.101251A>C (p.Asn33751His)
|
rs753658469
|
0.00005
|
NM_001267550.2(TTN):c.102173G>A (p.Arg34058Lys)
|
rs886039007
|
0.00005
|
NM_001267550.2(TTN):c.102451G>C (p.Gly34151Arg)
|
rs191522469
|
0.00005
|
NM_001267550.2(TTN):c.104581C>T (p.Arg34861Cys)
|
rs398124463
|
0.00005
|
NM_001267550.2(TTN):c.105521G>A (p.Arg35174His)
|
rs756575734
|
0.00005
|
NM_001267550.2(TTN):c.106388G>C (p.Gly35463Ala)
|
rs373369136
|
0.00005
|
NM_001267550.2(TTN):c.2274C>T (p.His758=)
|
rs772664968
|
0.00005
|
NM_001267550.2(TTN):c.2506G>A (p.Gly836Ser)
|
rs751157908
|
0.00005
|
NM_001267550.2(TTN):c.2734C>T (p.Arg912Cys)
|
rs371156190
|
0.00005
|
NM_001267550.2(TTN):c.3035G>A (p.Arg1012Gln)
|
rs368885310
|
0.00005
|
NM_001267550.2(TTN):c.3148A>G (p.Thr1050Ala)
|
rs940553223
|
0.00005
|
NM_001267550.2(TTN):c.4153G>A (p.Ala1385Thr)
|
rs140760859
|
0.00005
|
NM_001267550.2(TTN):c.415C>T (p.Arg139Trp)
|
rs752970602
|
0.00005
|
NM_001267550.2(TTN):c.4321C>T (p.Arg1441Cys)
|
rs146241078
|
0.00005
|
NM_001267550.2(TTN):c.47942C>T (p.Thr15981Met)
|
rs150364979
|
0.00005
|
NM_001267550.2(TTN):c.4945G>A (p.Val1649Ile)
|
rs138931943
|
0.00005
|
NM_001267550.2(TTN):c.54178G>A (p.Val18060Ile)
|
rs190574498
|
0.00005
|
NM_001267550.2(TTN):c.54999A>T (p.Glu18333Asp)
|
rs764950995
|
0.00005
|
NM_001267550.2(TTN):c.58017G>C (p.Leu19339Phe)
|
rs368025965
|
0.00005
|
NM_001267550.2(TTN):c.61289G>A (p.Cys20430Tyr)
|
rs527704660
|
0.00005
|
NM_001267550.2(TTN):c.61992C>G (p.Asn20664Lys)
|
rs376455983
|
0.00005
|
NM_001267550.2(TTN):c.66527C>T (p.Ser22176Phe)
|
rs779303152
|
0.00005
|
NM_001267550.2(TTN):c.70102A>G (p.Ile23368Val)
|
rs367914610
|
0.00005
|
NM_001267550.2(TTN):c.71699G>A (p.Arg23900Gln)
|
rs369292052
|
0.00005
|
NM_001267550.2(TTN):c.82220T>C (p.Ile27407Thr)
|
rs376037252
|
0.00005
|
NM_001267550.2(TTN):c.8312T>C (p.Ile2771Thr)
|
rs780465670
|
0.00005
|
NM_001267550.2(TTN):c.84072A>C (p.Glu28024Asp)
|
rs377540780
|
0.00005
|
NM_001267550.2(TTN):c.84362C>A (p.Thr28121Lys)
|
rs397517726
|
0.00005
|
NM_001267550.2(TTN):c.84848A>G (p.Lys28283Arg)
|
rs545841306
|
0.00005
|
NM_001267550.2(TTN):c.87010G>A (p.Gly29004Ser)
|
rs761251825
|
0.00005
|
NM_001267550.2(TTN):c.89711G>A (p.Arg29904His)
|
rs397517744
|
0.00005
|
NM_001267550.2(TTN):c.92451G>T (p.Glu30817Asp)
|
rs397517755
|
0.00005
|
NM_001267550.2(TTN):c.93130G>A (p.Gly31044Ser)
|
rs750213547
|
0.00005
|
NM_001267550.2(TTN):c.94700A>G (p.Asn31567Ser)
|
rs886042885
|
0.00005
|
NM_001267550.2(TTN):c.97378A>G (p.Lys32460Glu)
|
rs965156924
|
0.00005
|
NM_001267550.2(TTN):c.97472T>C (p.Ile32491Thr)
|
rs781572378
|
0.00005
|
NM_001267550.2(TTN):c.97480C>T (p.Arg32494Cys)
|
rs727503539
|
0.00005
|
NM_001267550.2(TTN):c.99922G>A (p.Ala33308Thr)
|
rs201226974
|
0.00005
|
NM_001276345.2(TNNT2):c.863G>A (p.Arg288His)
|
rs397516484
|
0.00005
|
NM_001276345.2(TNNT2):c.887G>A (p.Arg296His)
|
rs141121678
|
0.00005
|
NM_001289808.2(CRYAB):c.470G>A (p.Arg157His)
|
rs141638421
|
0.00005
|
NM_001365276.2(TNXB):c.2224G>A (p.Gly742Ser)
|
rs372262597
|
0.00005
|
NM_001365276.2(TNXB):c.3140G>T (p.Gly1047Val)
|
rs753232337
|
0.00005
|
NM_001365276.2(TNXB):c.4916G>A (p.Arg1639His)
|
rs756221645
|
0.00005
|
NM_001365276.2(TNXB):c.6469C>T (p.Arg2157Cys)
|
rs369153948
|
0.00005
|
NM_001365276.2(TNXB):c.6976C>A (p.Pro2326Thr)
|
rs757980679
|
0.00005
|
NM_001365276.2(TNXB):c.7459C>T (p.Arg2487Cys)
|
rs747880757
|
0.00005
|
NM_001365276.2(TNXB):c.8141C>T (p.Thr2714Met)
|
rs1192872355
|
0.00005
|
NM_001365276.2(TNXB):c.8273T>C (p.Ile2758Thr)
|
rs780826246
|
0.00005
|
NM_001365276.2(TNXB):c.8393G>A (p.Arg2798His)
|
rs372230994
|
0.00005
|
NM_001365276.2(TNXB):c.9212C>T (p.Ala3071Val)
|
rs753102887
|
0.00005
|
NM_001365276.2(TNXB):c.9488C>G (p.Ala3163Gly)
|
rs561810058
|
0.00005
|
NM_001367624.2(ZNF469):c.186G>T (p.Glu62Asp)
|
rs770775791
|
0.00005
|
NM_001367624.2(ZNF469):c.3890G>A (p.Gly1297Asp)
|
rs750571274
|
0.00005
|
NM_001367624.2(ZNF469):c.7130C>T (p.Pro2377Leu)
|
rs768036751
|
0.00005
|
NM_001367624.2(ZNF469):c.9050G>A (p.Ser3017Asn)
|
rs1383712865
|
0.00005
|
NM_001367624.2(ZNF469):c.9100G>A (p.Gly3034Arg)
|
rs930113352
|
0.00005
|
NM_001367624.2(ZNF469):c.9419C>T (p.Ala3140Val)
|
rs892510413
|
0.00005
|
NM_001378454.1(ALMS1):c.11548-3T>C
|
rs555547573
|
0.00005
|
NM_001378454.1(ALMS1):c.11792A>G (p.Glu3931Gly)
|
rs776808559
|
0.00005
|
NM_001378454.1(ALMS1):c.12310A>G (p.Ile4104Val)
|
rs780286947
|
0.00005
|
NM_001378454.1(ALMS1):c.2629A>G (p.Asn877Asp)
|
rs776351580
|
0.00005
|
NM_001378454.1(ALMS1):c.3860C>T (p.Ser1287Leu)
|
rs375231416
|
0.00005
|
NM_001378454.1(ALMS1):c.4173C>A (p.Phe1391Leu)
|
rs370406004
|
0.00005
|
NM_001378454.1(ALMS1):c.4483C>G (p.Leu1495Val)
|
rs373213201
|
0.00005
|
NM_001378454.1(ALMS1):c.4987A>G (p.Thr1663Ala)
|
rs770424780
|
0.00005
|
NM_001378454.1(ALMS1):c.6143A>G (p.Tyr2048Cys)
|
rs201162418
|
0.00005
|
NM_001378454.1(ALMS1):c.6299A>T (p.Lys2100Ile)
|
rs373286582
|
0.00005
|
NM_001378454.1(ALMS1):c.6706C>A (p.Pro2236Thr)
|
rs200724860
|
0.00005
|
NM_001378454.1(ALMS1):c.9769C>T (p.Arg3257Cys)
|
rs373998843
|
0.00005
|
NM_001378454.1(ALMS1):c.9937C>G (p.Pro3313Ala)
|
rs762967276
|
0.00005
|
NM_001379200.1(TBX1):c.1374C>G (p.His458Gln)
|
rs747623105
|
0.00005
|
NM_001379200.1(TBX1):c.1474G>A (p.Gly492Arg)
|
rs541198585
|
0.00005
|
NM_001458.5(FLNC):c.15C>A (p.Ser5Arg)
|
rs759632330
|
0.00005
|
NM_001458.5(FLNC):c.2272G>A (p.Val758Met)
|
rs371418145
|
0.00005
|
NM_001458.5(FLNC):c.2425G>A (p.Val809Met)
|
rs775770671
|
0.00005
|
NM_001458.5(FLNC):c.2888C>T (p.Pro963Leu)
|
rs963838554
|
0.00005
|
NM_001458.5(FLNC):c.3209C>T (p.Pro1070Leu)
|
rs370391049
|
0.00005
|
NM_001458.5(FLNC):c.3502G>A (p.Gly1168Ser)
|
rs199814952
|
0.00005
|
NM_001458.5(FLNC):c.4054C>T (p.Arg1352Cys)
|
rs367931139
|
0.00005
|
NM_001458.5(FLNC):c.4092G>C (p.Leu1364Phe)
|
rs768635501
|
0.00005
|
NM_001458.5(FLNC):c.4222G>A (p.Glu1408Lys)
|
rs965589915
|
0.00005
|
NM_001458.5(FLNC):c.4627C>T (p.Arg1543Trp)
|
rs745648230
|
0.00005
|
NM_001458.5(FLNC):c.517G>T (p.Val173Leu)
|
rs376235207
|
0.00005
|
NM_001458.5(FLNC):c.5285G>A (p.Arg1762His)
|
rs779856224
|
0.00005
|
NM_001458.5(FLNC):c.5431C>T (p.Arg1811Trp)
|
rs374794518
|
0.00005
|
NM_001458.5(FLNC):c.6052C>T (p.Arg2018Cys)
|
rs1335627502
|
0.00005
|
NM_001458.5(FLNC):c.64C>T (p.Pro22Ser)
|
rs368812043
|
0.00005
|
NM_001458.5(FLNC):c.7111G>A (p.Val2371Ile)
|
rs552252122
|
0.00005
|
NM_001927.4(DES):c.1009G>A (p.Ala337Thr)
|
rs59962885
|
0.00005
|
NM_001927.4(DES):c.1123C>T (p.Arg375Trp)
|
rs375218723
|
0.00005
|
NM_001927.4(DES):c.1371+1G>A
|
rs748323823
|
0.00005
|
NM_001943.5(DSG2):c.2275G>A (p.Gly759Arg)
|
rs765793636
|
0.00005
|
NM_001943.5(DSG2):c.2341G>T (p.Ala781Ser)
|
rs760402926
|
0.00005
|
NM_001943.5(DSG2):c.862G>A (p.Val288Ile)
|
rs780374242
|
0.00005
|
NM_001943.5(DSG2):c.961T>A (p.Phe321Ile)
|
rs201040643
|
0.00005
|
NM_002230.4(JUP):c.998G>A (p.Arg333His)
|
rs727503099
|
0.00005
|
NM_002294.3(LAMP2):c.32G>T (p.Gly11Val)
|
rs3180515
|
0.00005
|
NM_002317.7(LOX):c.1190G>A (p.Arg397His)
|
rs749796906
|
0.00005
|
NM_002317.7(LOX):c.263G>A (p.Arg88His)
|
rs369178929
|
0.00005
|
NM_002471.4(MYH6):c.1177T>G (p.Ser393Ala)
|
rs199877580
|
0.00005
|
NM_002471.4(MYH6):c.1703G>A (p.Arg568His)
|
rs376291577
|
0.00005
|
NM_002471.4(MYH6):c.190G>A (p.Glu64Lys)
|
rs750818212
|
0.00005
|
NM_002471.4(MYH6):c.2354G>A (p.Arg785His)
|
rs769341738
|
0.00005
|
NM_002471.4(MYH6):c.3347G>A (p.Arg1116His)
|
rs369247906
|
0.00005
|
NM_002471.4(MYH6):c.3785G>A (p.Arg1262His)
|
rs544358806
|
0.00005
|
NM_002471.4(MYH6):c.5642A>G (p.Lys1881Arg)
|
rs750886219
|
0.00005
|
NM_002471.4(MYH6):c.5690A>G (p.Lys1897Arg)
|
rs765849175
|
0.00005
|
NM_002471.4(MYH6):c.611G>A (p.Arg204His)
|
rs200623022
|
0.00005
|
NM_003098.3(SNTA1):c.1015C>T (p.Arg339Cys)
|
rs138164106
|
0.00005
|
NM_003098.3(SNTA1):c.782C>T (p.Ala261Val)
|
rs139467962
|
0.00005
|
NM_003476.5(CSRP3):c.136A>C (p.Ser46Arg)
|
rs137852765
|
0.00005
|
NM_003476.5(CSRP3):c.535A>G (p.Thr179Ala)
|
rs397516859
|
0.00005
|
NM_003673.4(TCAP):c.113G>T (p.Cys38Phe)
|
rs375310569
|
0.00005
|
NM_004006.3(DMD):c.10228G>A (p.Val3410Ile)
|
rs751030250
|
0.00005
|
NM_004006.3(DMD):c.10594G>A (p.Glu3532Lys)
|
rs766716563
|
0.00005
|
NM_004006.3(DMD):c.146G>A (p.Arg49His)
|
rs765584669
|
0.00005
|
NM_004006.3(DMD):c.2110C>T (p.Pro704Ser)
|
rs1060502638
|
0.00005
|
NM_004006.3(DMD):c.2296A>G (p.Ile766Val)
|
rs372490563
|
0.00005
|
NM_004006.3(DMD):c.2362G>T (p.Val788Leu)
|
rs756267575
|
0.00005
|
NM_004006.3(DMD):c.244C>T (p.Arg82Trp)
|
rs772546251
|
0.00005
|
NM_004006.3(DMD):c.3191T>C (p.Met1064Thr)
|
rs140106769
|
0.00005
|
NM_004006.3(DMD):c.3936G>C (p.Leu1312Phe)
|
rs377156960
|
0.00005
|
NM_004006.3(DMD):c.434G>A (p.Arg145Gln)
|
rs398123952
|
0.00005
|
NM_004006.3(DMD):c.4845+4A>T
|
rs368357171
|
0.00005
|
NM_004006.3(DMD):c.5270T>C (p.Ile1757Thr)
|
rs201516290
|
0.00005
|
NM_004006.3(DMD):c.6101A>T (p.Gln2034Leu)
|
rs144754029
|
0.00005
|
NM_004006.3(DMD):c.6452G>A (p.Gly2151Asp)
|
rs727503815
|
0.00005
|
NM_004006.3(DMD):c.6799C>A (p.Leu2267Ile)
|
rs758654750
|
0.00005
|
NM_004006.3(DMD):c.7555G>A (p.Asp2519Asn)
|
rs771877780
|
0.00005
|
NM_004006.3(DMD):c.7712G>T (p.Arg2571Leu)
|
rs371588290
|
0.00005
|
NM_004006.3(DMD):c.8135C>G (p.Ala2712Gly)
|
rs751599201
|
0.00005
|
NM_004006.3(DMD):c.8426G>A (p.Arg2809His)
|
rs778331600
|
0.00005
|
NM_004006.3(DMD):c.8609G>A (p.Arg2870Gln)
|
rs373481995
|
0.00005
|
NM_004006.3(DMD):c.8851C>T (p.Arg2951Cys)
|
rs760516307
|
0.00005
|
NM_004006.3(DMD):c.923C>A (p.Thr308Asn)
|
rs145064612
|
0.00005
|
NM_004006.3(DMD):c.9504G>C (p.Leu3168Phe)
|
rs185247491
|
0.00005
|
NM_004006.3(DMD):c.9716A>G (p.His3239Arg)
|
rs765865134
|
0.00005
|
NM_004281.4(BAG3):c.133C>T (p.Arg45Cys)
|
rs747820097
|
0.00005
|
NM_004415.4(DSP):c.3971A>T (p.Asn1324Ile)
|
rs749820299
|
0.00005
|
NM_004415.4(DSP):c.5221G>A (p.Ala1741Thr)
|
rs777773801
|
0.00005
|
NM_004415.4(DSP):c.5285G>A (p.Arg1762Gln)
|
rs751849031
|
0.00005
|
NM_004415.4(DSP):c.6452G>A (p.Arg2151Gln)
|
rs367759510
|
0.00005
|
NM_004415.4(DSP):c.6718C>G (p.Gln2240Glu)
|
rs374262024
|
0.00005
|
NM_004415.4(DSP):c.8255G>A (p.Arg2752Gln)
|
rs769706539
|
0.00005
|
NM_004415.4(DSP):c.8281G>A (p.Ala2761Thr)
|
rs376751288
|
0.00005
|
NM_004415.4(DSP):c.916G>A (p.Ala306Thr)
|
rs368193211
|
0.00005
|
NM_005343.4(HRAS):c.397C>T (p.Leu133Phe)
|
rs776888712
|
0.00005
|
NM_005472.5(KCNE3):c.241C>T (p.Arg81Cys)
|
rs542842233
|
0.00005
|
NM_005477.3(HCN4):c.1924G>A (p.Val642Met)
|
rs779402752
|
0.00005
|
NM_005477.3(HCN4):c.2458G>A (p.Gly820Arg)
|
rs761337460
|
0.00005
|
NM_005477.3(HCN4):c.2537C>T (p.Pro846Leu)
|
rs747467877
|
0.00005
|
NM_005477.3(HCN4):c.3101C>G (p.Pro1034Arg)
|
rs928266429
|
0.00005
|
NM_005477.3(HCN4):c.3134C>T (p.Ala1045Val)
|
rs980750316
|
0.00005
|
NM_005477.3(HCN4):c.3305G>A (p.Arg1102His)
|
rs548130184
|
0.00005
|
NM_005477.3(HCN4):c.3460C>T (p.Arg1154Trp)
|
rs200896834
|
0.00005
|
NM_005633.4(SOS1):c.2312T>C (p.Ile771Thr)
|
rs557328600
|
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.289C>G (p.Gln97Glu)
|
rs786205712
|
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.6035C>G (p.Ala2012Gly)
|
rs777752444
|
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.6376A>C (p.Ser2126Arg)
|
rs775673048
|
0.00005
|
NM_005751.5(AKAP9):c.970A>G (p.Ile324Val)
|
rs906395966
|
0.00005
|
NM_006073.4(TRDN):c.1276A>C (p.Thr426Pro)
|
rs1040336692
|
0.00005
|
NM_006073.4(TRDN):c.1361T>C (p.Val454Ala)
|
rs745960330
|
0.00005
|
NM_006073.4(TRDN):c.1471+5T>C
|
rs374426512
|
0.00005
|
NM_006073.4(TRDN):c.224A>T (p.Asn75Ile)
|
rs368939536
|
0.00005
|
NM_006073.4(TRDN):c.52G>C (p.Asp18His)
|
rs372554839
|
0.00005
|
NM_006440.5(TXNRD2):c.1348-2A>G
|
rs768600057
|
0.00005
|
NM_006440.5(TXNRD2):c.235C>T (p.Arg79Trp)
|
rs762060966
|
0.00005
|
NM_006440.5(TXNRD2):c.850G>C (p.Val284Leu)
|
rs201177571
|
0.00005
|
NM_006514.4(SCN10A):c.1267G>A (p.Glu423Lys)
|
rs748821446
|
0.00005
|
NM_006514.4(SCN10A):c.14T>C (p.Ile5Thr)
|
rs557317287
|
0.00005
|
NM_006514.4(SCN10A):c.1890G>A (p.Lys630=)
|
rs764191883
|
0.00005
|
NM_006514.4(SCN10A):c.2341G>A (p.Gly781Arg)
|
rs148851890
|
0.00005
|
NM_006514.4(SCN10A):c.2936G>T (p.Gly979Val)
|
rs559166014
|
0.00005
|
NM_006514.4(SCN10A):c.3556C>A (p.Leu1186Met)
|
rs192493052
|
0.00005
|
NM_006514.4(SCN10A):c.3909C>T (p.Phe1303=)
|
rs928284057
|
0.00005
|
NM_006514.4(SCN10A):c.4655C>T (p.Ala1552Val)
|
rs756133876
|
0.00005
|
NM_006514.4(SCN10A):c.4777A>T (p.Ile1593Phe)
|
rs762600386
|
0.00005
|
NM_006939.4(SOS2):c.244A>G (p.Ile82Val)
|
rs545263131
|
0.00005
|
NM_007078.3(LDB3):c.1339C>G (p.Pro447Ala)
|
rs397517211
|
0.00005
|
NM_007078.3(LDB3):c.1547G>A (p.Arg516Gln)
|
rs762985970
|
0.00005
|
NM_007078.3(LDB3):c.1654G>A (p.Gly552Ser)
|
rs771007816
|
0.00005
|
NM_007078.3(LDB3):c.610G>A (p.Ala204Thr)
|
rs774976112
|
0.00005
|
NM_007078.3(LDB3):c.668C>T (p.Ser223Leu)
|
rs375306400
|
0.00005
|
NM_014000.3(VCL):c.1205C>T (p.Pro402Leu)
|
rs766393966
|
0.00005
|
NM_014000.3(VCL):c.1287T>A (p.Asp429Glu)
|
rs139371702
|
0.00005
|
NM_014000.3(VCL):c.1583G>A (p.Arg528His)
|
rs746095066
|
0.00005
|
NM_014000.3(VCL):c.2273G>A (p.Arg758His)
|
rs371970354
|
0.00005
|
NM_014391.3(ANKRD1):c.180G>A (p.Trp60Ter)
|
rs760365338
|
0.00005
|
NM_014391.3(ANKRD1):c.187G>A (p.Glu63Lys)
|
rs143588078
|
0.00005
|
NM_014391.3(ANKRD1):c.736A>G (p.Asn246Asp)
|
rs368343038
|
0.00005
|
NM_014908.4(DOLK):c.1067G>A (p.Arg356Gln)
|
rs199535796
|
0.00005
|
NM_014908.4(DOLK):c.1166G>A (p.Arg389Gln)
|
rs201984428
|
0.00005
|
NM_014908.4(DOLK):c.1431G>A (p.Met477Ile)
|
rs754150966
|
0.00005
|
NM_014908.4(DOLK):c.1558A>G (p.Thr520Ala)
|
rs374860681
|
0.00005
|
NM_014908.4(DOLK):c.434G>C (p.Gly145Ala)
|
rs377064301
|
0.00005
|
NM_014908.4(DOLK):c.876C>G (p.Phe292Leu)
|
rs147342916
|
0.00005
|
NM_016203.4(PRKAG2):c.1114G>A (p.Asp372Asn)
|
rs760826751
|
0.00005
|
NM_016203.4(PRKAG2):c.1679-3C>T
|
rs371543989
|
0.00005
|
NM_016203.4(PRKAG2):c.593C>T (p.Pro198Leu)
|
rs41317142
|
0.00005
|
NM_017636.4(TRPM4):c.3256C>G (p.Arg1086Gly)
|
rs200167232
|
0.00005
|
NM_020297.4(ABCC9):c.215G>A (p.Arg72Lys)
|
rs369409311
|
0.00005
|
NM_020297.4(ABCC9):c.4512+784A>G
|
rs148547035
|
0.00005
|
NM_020433.5(JPH2):c.1420G>A (p.Glu474Lys)
|
rs1033476644
|
0.00005
|
NM_020433.5(JPH2):c.1894G>A (p.Glu632Lys)
|
rs200149713
|
0.00005
|
NM_020778.4(ALPK3):c.226G>A (p.Gly76Ser)
|
rs758170095
|
0.00005
|
NM_020778.5(ALPK3):c.2477C>T (p.Pro826Leu)
|
rs775305251
|
0.00005
|
NM_020778.5(ALPK3):c.3124G>A (p.Gly1042Ser)
|
rs561031407
|
0.00005
|
NM_020778.5(ALPK3):c.3521C>A (p.Ala1174Glu)
|
rs541005940
|
0.00005
|
NM_020778.5(ALPK3):c.4033C>T (p.Arg1345Trp)
|
rs748989211
|
0.00005
|
NM_020778.5(ALPK3):c.4575G>T (p.Lys1525Asn)
|
rs116112514
|
0.00005
|
NM_020778.5(ALPK3):c.4883C>T (p.Pro1628Leu)
|
rs371706327
|
0.00005
|
NM_020778.5(ALPK3):c.5027C>G (p.Ala1676Gly)
|
rs150250443
|
0.00005
|
NM_020778.5(ALPK3):c.791G>T (p.Gly264Val)
|
rs747849453
|
0.00005
|
NM_021167.5(GATAD1):c.578C>G (p.Ser193Cys)
|
rs780188711
|
0.00005
|
NM_021167.5(GATAD1):c.721C>T (p.Pro241Ser)
|
rs779832718
|
0.00005
|
NM_024301.5(FKRP):c.1270A>C (p.Asn424His)
|
rs769568971
|
0.00005
|
NM_024301.5(FKRP):c.1427G>A (p.Gly476Glu)
|
rs375326964
|
0.00005
|
NM_024301.5(FKRP):c.295G>A (p.Val99Met)
|
rs776733780
|
0.00005
|
NM_024422.6(DSC2):c.1069C>T (p.Arg357Cys)
|
rs879255385
|
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_144573.4(NEXN):c.1088C>G (p.Thr363Arg)
|
rs748351352
|
0.00005
|
NM_152594.3(SPRED1):c.1006G>A (p.Val336Ile)
|
rs373477920
|
0.00005
|
NM_170707.4(LMNA):c.1488G>A (p.Thr496=)
|
rs375516745
|
0.00005
|
NM_170707.4(LMNA):c.497G>A (p.Arg166Gln)
|
rs267607570
|
0.00005
|
NM_174936.4(PCSK9):c.1930G>A (p.Val644Ile)
|
rs143291739
|
0.00005
|
NM_174936.4(PCSK9):c.314G>A (p.Arg105Gln)
|
rs754143671
|
0.00005
|
NM_181486.4(TBX5):c.1273C>A (p.His425Asn)
|
rs755152246
|
0.00005
|
NM_181486.4(TBX5):c.848C>A (p.Thr283Asn)
|
rs147077037
|
0.00005
|
NM_000020.3(ACVRL1):c.82C>T (p.Arg28Trp)
|
rs761650726
|
0.00004
|
NM_000088.4(COL1A1):c.1109G>A (p.Arg370His)
|
rs750756697
|
0.00004
|
NM_000088.4(COL1A1):c.1930-5T>C
|
rs762377921
|
0.00004
|
NM_000088.4(COL1A1):c.3247G>A (p.Ala1083Thr)
|
rs372029024
|
0.00004
|
NM_000088.4(COL1A1):c.3755G>A (p.Arg1252His)
|
rs371904584
|
0.00004
|
NM_000088.4(COL1A1):c.4168C>T (p.Leu1390Phe)
|
rs768808806
|
0.00004
|
NM_000088.4(COL1A1):c.4196G>A (p.Arg1399His)
|
rs146035171
|
0.00004
|
NM_000088.4(COL1A1):c.428C>G (p.Pro143Arg)
|
rs941273260
|
0.00004
|
NM_000089.4(COL1A2):c.1148C>A (p.Pro383His)
|
rs193922159
|
0.00004
|
NM_000089.4(COL1A2):c.286A>G (p.Met96Val)
|
rs763509640
|
0.00004
|
NM_000089.4(COL1A2):c.3100A>G (p.Ile1034Val)
|
rs746794922
|
0.00004
|
NM_000089.4(COL1A2):c.3337G>A (p.Asp1113Asn)
|
rs760490617
|
0.00004
|
NM_000090.4(COL3A1):c.1424C>T (p.Ala475Val)
|
rs770168441
|
0.00004
|
NM_000152.5(GAA):c.1198G>A (p.Val400Ile)
|
rs758334520
|
0.00004
|
NM_000169.3(GLA):c.1261A>G (p.Met421Val)
|
rs144060196
|
0.00004
|
NM_000214.3(JAG1):c.1439C>T (p.Ala480Val)
|
rs149366993
|
0.00004
|
NM_000214.3(JAG1):c.1609G>A (p.Gly537Ser)
|
rs756787187
|
0.00004
|
NM_000214.3(JAG1):c.1756G>A (p.Asp586Asn)
|
rs762348061
|
0.00004
|
NM_000214.3(JAG1):c.1865C>T (p.Thr622Met)
|
rs764089304
|
0.00004
|
NM_000214.3(JAG1):c.2701C>A (p.Pro901Thr)
|
rs372904306
|
0.00004
|
NM_000218.3(KCNQ1):c.1033-5C>G
|
rs764094211
|
0.00004
|
NM_000218.3(KCNQ1):c.1345G>A (p.Glu449Lys)
|
rs372583676
|
0.00004
|
NM_000218.3(KCNQ1):c.1748G>A (p.Arg583His)
|
rs199473482
|
0.00004
|
NM_000218.3(KCNQ1):c.242C>T (p.Pro81Leu)
|
rs771921468
|
0.00004
|
NM_000218.3(KCNQ1):c.41G>T (p.Arg14Leu)
|
rs1424013094
|
0.00004
|
NM_000218.3(KCNQ1):c.583C>T (p.Arg195Trp)
|
rs150172393
|
0.00004
|
NM_000229.2(LCAT):c.1192G>A (p.Gly398Arg)
|
rs772313264
|
0.00004
|
NM_000235.4(LIPA):c.807G>C (p.Glu269Asp)
|
rs746973509
|
0.00004
|
NM_000237.3(LPL):c.958G>T (p.Val320Phe)
|
rs767970819
|
0.00004
|
NM_000238.4(KCNH2):c.115T>C (p.Cys39Arg)
|
rs757491162
|
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.2717C>T (p.Ser906Leu)
|
rs199473435
|
0.00004
|
NM_000238.4(KCNH2):c.2793G>A (p.Pro931=)
|
rs200976506
|
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.3109G>A (p.Asp1037Asn)
|
rs199473023
|
0.00004
|
NM_000238.4(KCNH2):c.3229G>A (p.Ala1077Thr)
|
rs201382073
|
0.00004
|
NM_000238.4(KCNH2):c.823A>C (p.Ser275Arg)
|
rs1268162009
|
0.00004
|
NM_000256.3(MYBPC3):c.107C>A (p.Ala36Glu)
|
rs376646845
|
0.00004
|
NM_000256.3(MYBPC3):c.118G>A (p.Val40Met)
|
rs780085131
|
0.00004
|
NM_000256.3(MYBPC3):c.1256G>A (p.Arg419His)
|
rs770030288
|
0.00004
|
NM_000256.3(MYBPC3):c.131G>A (p.Arg44His)
|
rs369205562
|
0.00004
|
NM_000256.3(MYBPC3):c.1604T>C (p.Leu535Pro)
|
rs730880548
|
0.00004
|
NM_000256.3(MYBPC3):c.2056G>C (p.Ala686Pro)
|
rs367992212
|
0.00004
|
NM_000256.3(MYBPC3):c.2179G>A (p.Val727Met)
|
rs564378953
|
0.00004
|
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met)
|
rs371488302
|
0.00004
|
NM_000256.3(MYBPC3):c.2380C>A (p.Pro794Thr)
|
rs1164995671
|
0.00004
|
NM_000256.3(MYBPC3):c.2552C>T (p.Ala851Val)
|
rs774172488
|
0.00004
|
NM_000256.3(MYBPC3):c.2560A>G (p.Met854Val)
|
rs373171036
|
0.00004
|
NM_000256.3(MYBPC3):c.2783C>T (p.Ser928Leu)
|
rs773819168
|
0.00004
|
NM_000256.3(MYBPC3):c.2807C>T (p.Thr936Met)
|
rs374946555
|
0.00004
|
NM_000256.3(MYBPC3):c.3005G>A (p.Arg1002Gln)
|
rs727504235
|
0.00004
|
NM_000256.3(MYBPC3):c.3052G>C (p.Glu1018Gln)
|
rs372003333
|
0.00004
|
NM_000256.3(MYBPC3):c.3065G>C (p.Arg1022Pro)
|
rs397516000
|
0.00004
|
NM_000256.3(MYBPC3):c.3218G>A (p.Arg1073Gln)
|
rs376598916
|
0.00004
|
NM_000256.3(MYBPC3):c.3373G>A (p.Val1125Met)
|
rs121909378
|
0.00004
|
NM_000256.3(MYBPC3):c.3452C>T (p.Ala1151Val)
|
rs779884363
|
0.00004
|
NM_000256.3(MYBPC3):c.3614G>A (p.Arg1205Gln)
|
rs730880596
|
0.00004
|
NM_000256.3(MYBPC3):c.3676C>T (p.Arg1226Cys)
|
rs397516033
|
0.00004
|
NM_000256.3(MYBPC3):c.3800G>A (p.Arg1267His)
|
rs730880142
|
0.00004
|
NM_000256.3(MYBPC3):c.479G>A (p.Arg160Gln)
|
rs730880617
|
0.00004
|
NM_000256.3(MYBPC3):c.557C>T (p.Pro186Leu)
|
rs727503216
|
0.00004
|
NM_000256.3(MYBPC3):c.787G>A (p.Gly263Arg)
|
rs373730381
|
0.00004
|
NM_000256.3(MYBPC3):c.799C>G (p.Leu267Val)
|
rs370941975
|
0.00004
|
NM_000256.3(MYBPC3):c.842G>A (p.Arg281Gln)
|
rs11570060
|
0.00004
|
NM_000256.3(MYBPC3):c.956A>C (p.Glu319Ala)
|
rs545675333
|
0.00004
|
NM_000257.4(MYH7):c.1405G>A (p.Asp469Asn)
|
rs397516106
|
0.00004
|
NM_000257.4(MYH7):c.211G>A (p.Val71Met)
|
rs730880830
|
0.00004
|
NM_000257.4(MYH7):c.3125A>G (p.Lys1042Arg)
|
rs991485633
|
0.00004
|
NM_000257.4(MYH7):c.3168G>C (p.Glu1056Asp)
|
rs747198710
|
0.00004
|
NM_000257.4(MYH7):c.4097C>T (p.Ser1366Leu)
|
rs767000995
|
0.00004
|
NM_000257.4(MYH7):c.4348G>A (p.Asp1450Asn)
|
rs397516211
|
0.00004
|
NM_000257.4(MYH7):c.4721G>A (p.Arg1574Gln)
|
rs779715863
|
0.00004
|
NM_000257.4(MYH7):c.4772T>A (p.Leu1591Gln)
|
rs730880808
|
0.00004
|
NM_000257.4(MYH7):c.4904T>C (p.Met1635Thr)
|
rs145822086
|
0.00004
|
NM_000257.4(MYH7):c.4954G>T (p.Asp1652Tyr)
|
rs397516233
|
0.00004
|
NM_000257.4(MYH7):c.503-5C>T
|
rs397516236
|
0.00004
|
NM_000257.4(MYH7):c.5495G>A (p.Arg1832His)
|
rs730880820
|
0.00004
|
NM_000257.4(MYH7):c.5507C>T (p.Ser1836Leu)
|
rs727503242
|
0.00004
|
NM_000258.3(MYL3):c.460C>T (p.Arg154Cys)
|
rs143852164
|
0.00004
|
NM_000258.3(MYL3):c.466G>A (p.Val156Met)
|
rs199474707
|
0.00004
|
NM_000258.3(MYL3):c.476C>T (p.Thr159Met)
|
rs748832105
|
0.00004
|
NM_000258.3(MYL3):c.481+5G>A
|
rs1005891266
|
0.00004
|
NM_000335.5(SCN5A):c.1153G>A (p.Ala385Thr)
|
rs771588294
|
0.00004
|
NM_000335.5(SCN5A):c.1442G>A (p.Arg481Gln)
|
rs142804667
|
0.00004
|
NM_000335.5(SCN5A):c.1652C>T (p.Ala551Val)
|
rs201641342
|
0.00004
|
NM_000335.5(SCN5A):c.1976G>A (p.Arg659Gln)
|
rs374908012
|
0.00004
|
NM_000335.5(SCN5A):c.2002G>A (p.Val668Ile)
|
rs768055977
|
0.00004
|
NM_000335.5(SCN5A):c.2597C>T (p.Ser866Leu)
|
rs755194086
|
0.00004
|
NM_000335.5(SCN5A):c.2956C>T (p.Arg986Trp)
|
rs561547165
|
0.00004
|
NM_000335.5(SCN5A):c.3080G>A (p.Arg1027Gln)
|
rs763891399
|
0.00004
|
NM_000335.5(SCN5A):c.3204C>T (p.Gly1068=)
|
rs1464663200
|
0.00004
|
NM_000335.5(SCN5A):c.355C>T (p.Pro119Ser)
|
rs368058564
|
0.00004
|
NM_000335.5(SCN5A):c.4475A>G (p.Lys1492Arg)
|
rs199473260
|
0.00004
|
NM_000335.5(SCN5A):c.569G>A (p.Arg190Gln)
|
rs199473069
|
0.00004
|
NM_000335.5(SCN5A):c.5827C>T (p.Arg1943Ter)
|
rs794728940
|
0.00004
|
NM_000335.5(SCN5A):c.5869C>T (p.Arg1957Ter)
|
rs757532106
|
0.00004
|
NM_000335.5(SCN5A):c.5969G>A (p.Arg1990Gln)
|
rs199473336
|
0.00004
|
NM_000335.5(SCN5A):c.6004G>A (p.Asp2002Asn)
|
rs376697724
|
0.00004
|
NM_000335.5(SCN5A):c.6043G>A (p.Val2015Met)
|
rs762981322
|
0.00004
|
NM_000363.5(TNNI3):c.282+5C>G
|
rs770260866
|
0.00004
|
NM_000363.5(TNNI3):c.292C>T (p.Arg98Ter)
|
rs730881068
|
0.00004
|
NM_000363.5(TNNI3):c.293G>A (p.Arg98Gln)
|
rs747522089
|
0.00004
|
NM_000363.5(TNNI3):c.308G>A (p.Arg103His)
|
rs371000425
|
0.00004
|
NM_000371.4(TTR):c.361G>A (p.Gly121Ser)
|
rs755337715
|
0.00004
|
NM_000371.4(TTR):c.386C>T (p.Ala129Val)
|
rs121918092
|
0.00004
|
NM_000384.3(APOB):c.1033G>A (p.Ala345Thr)
|
rs777330578
|
0.00004
|
NM_000384.3(APOB):c.1061A>G (p.Glu354Gly)
|
rs149227065
|
0.00004
|
NM_000384.3(APOB):c.10982T>C (p.Ile3661Thr)
|
rs377425803
|
0.00004
|
NM_000384.3(APOB):c.11509G>T (p.Ala3837Ser)
|
rs1389480980
|
0.00004
|
NM_000384.3(APOB):c.11840G>A (p.Gly3947Glu)
|
rs770531319
|
0.00004
|
NM_000384.3(APOB):c.12280G>A (p.Gly4094Arg)
|
rs372357954
|
0.00004
|
NM_000384.3(APOB):c.12443C>A (p.Ala4148Asp)
|
rs756476242
|
0.00004
|
NM_000384.3(APOB):c.12536C>T (p.Thr4179Ile)
|
rs370180297
|
0.00004
|
NM_000384.3(APOB):c.1400C>G (p.Ala467Gly)
|
rs376602710
|
0.00004
|
NM_000384.3(APOB):c.1472T>C (p.Val491Ala)
|
rs996700659
|
0.00004
|
NM_000384.3(APOB):c.166T>C (p.Tyr56His)
|
rs150496608
|
0.00004
|
NM_000384.3(APOB):c.1753C>A (p.Gln585Lys)
|
rs140101603
|
0.00004
|
NM_000384.3(APOB):c.1910A>G (p.Tyr637Cys)
|
rs766573431
|
0.00004
|
NM_000384.3(APOB):c.3220G>A (p.Gly1074Arg)
|
rs72653074
|
0.00004
|
NM_000384.3(APOB):c.3656C>T (p.Thr1219Ile)
|
rs768005049
|
0.00004
|
NM_000384.3(APOB):c.3904T>C (p.Phe1302Leu)
|
rs201926213
|
0.00004
|
NM_000384.3(APOB):c.4250C>T (p.Thr1417Met)
|
rs200321839
|
0.00004
|
NM_000384.3(APOB):c.4298C>T (p.Ser1433Leu)
|
rs200708197
|
0.00004
|
NM_000384.3(APOB):c.4311C>G (p.Phe1437Leu)
|
rs1801697
|
0.00004
|
NM_000384.3(APOB):c.5990A>G (p.Asp1997Gly)
|
rs752203499
|
0.00004
|
NM_000384.3(APOB):c.6868G>A (p.Glu2290Lys)
|
rs139857448
|
0.00004
|
NM_000384.3(APOB):c.6875T>C (p.Ile2292Thr)
|
rs145977507
|
0.00004
|
NM_000384.3(APOB):c.721A>T (p.Ser241Cys)
|
rs758838678
|
0.00004
|
NM_000384.3(APOB):c.7355G>C (p.Gly2452Ala)
|
rs532531549
|
0.00004
|
NM_000384.3(APOB):c.8720G>A (p.Arg2907His)
|
rs751437976
|
0.00004
|
NM_000384.3(APOB):c.9803C>T (p.Ser3268Leu)
|
rs755753053
|
0.00004
|
NM_000432.4(MYL2):c.403-1G>C
|
rs199474813
|
0.00004
|
NM_000432.4(MYL2):c.459G>C (p.Lys153Asn)
|
rs149078011
|
0.00004
|
NM_000432.4(MYL2):c.97T>C (p.Phe33Leu)
|
rs730880945
|
0.00004
|
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser)
|
rs544453230
|
0.00004
|
NM_000527.5(LDLR):c.1078G>C (p.Asp360His)
|
rs777926251
|
0.00004
|
NM_000527.5(LDLR):c.1402G>A (p.Val468Ile)
|
rs5932
|
0.00004
|
NM_000527.5(LDLR):c.1868T>C (p.Ile623Thr)
|
rs141155833
|
0.00004
|
NM_000527.5(LDLR):c.232C>T (p.Arg78Cys)
|
rs370860696
|
0.00004
|
NM_000527.5(LDLR):c.2575G>A (p.Val859Met)
|
rs202049029
|
0.00004
|
NM_000527.5(LDLR):c.73G>A (p.Asp25Asn)
|
rs562712652
|
0.00004
|
NM_000527.5(LDLR):c.940G>A (p.Gly314Arg)
|
rs72658858
|
0.00004
|
NM_000719.7(CACNA1C):c.1487G>A (p.Arg496Gln)
|
rs369255950
|
0.00004
|
NM_000719.7(CACNA1C):c.1555G>A (p.Ala519Thr)
|
rs371702432
|
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.2816T>C (p.Val939Ala)
|
rs754495060
|
0.00004
|
NM_000719.7(CACNA1C):c.5120T>C (p.Val1707Ala)
|
rs531161884
|
0.00004
|
NM_000719.7(CACNA1C):c.5320G>A (p.Ala1774Thr)
|
rs767425352
|
0.00004
|
NM_000719.7(CACNA1C):c.5737G>A (p.Asp1913Asn)
|
rs181502604
|
0.00004
|
NM_000719.7(CACNA1C):c.6022G>A (p.Ala2008Thr)
|
rs765885227
|
0.00004
|
NM_000722.4(CACNA2D1):c.1141A>G (p.Lys381Glu)
|
rs756707031
|
0.00004
|
NM_000722.4(CACNA2D1):c.1178A>G (p.Asn393Ser)
|
rs149828018
|
0.00004
|
NM_000722.4(CACNA2D1):c.2324C>A (p.Ala775Asp)
|
rs768768419
|
0.00004
|
NM_000722.4(CACNA2D1):c.2717C>T (p.Ser906Leu)
|
rs1015793463
|
0.00004
|
NM_000722.4(CACNA2D1):c.3060A>G (p.Ile1020Met)
|
rs748581194
|
0.00004
|
NM_000722.4(CACNA2D1):c.741A>T (p.Gly247=)
|
rs372164615
|
0.00004
|
NM_000784.4(CYP27A1):c.1025A>G (p.Asn342Ser)
|
rs778458082
|
0.00004
|
NM_000890.5(KCNJ5):c.554G>T (p.Cys185Phe)
|
rs760375676
|
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_001005242.3(PKP2):c.1010G>A (p.Ser337Asn)
|
rs144401285
|
0.00004
|
NM_001005242.3(PKP2):c.1064G>A (p.Arg355Gln)
|
rs370868564
|
0.00004
|
NM_001005242.3(PKP2):c.1379-2020G>A
|
rs1415117420
|
0.00004
|
NM_001005242.3(PKP2):c.1537A>G (p.Asn513Asp)
|
rs200343561
|
0.00004
|
NM_001005242.3(PKP2):c.1576G>A (p.Ala526Thr)
|
rs558637427
|
0.00004
|
NM_001005242.3(PKP2):c.1825A>G (p.Arg609Gly)
|
rs775103879
|
0.00004
|
NM_001005242.3(PKP2):c.1874G>C (p.Ser625Thr)
|
rs779926314
|
0.00004
|
NM_001005242.3(PKP2):c.2090G>T (p.Gly697Val)
|
rs143503798
|
0.00004
|
NM_001005242.3(PKP2):c.2141G>A (p.Arg714Gln)
|
rs397517020
|
0.00004
|
NM_001005242.3(PKP2):c.464G>C (p.Ser155Thr)
|
rs141438322
|
0.00004
|
NM_001005242.3(PKP2):c.548G>A (p.Ser183Asn)
|
rs373222905
|
0.00004
|
NM_001005242.3(PKP2):c.634C>T (p.Arg212Cys)
|
rs766379716
|
0.00004
|
NM_001005242.3(PKP2):c.950C>T (p.Ala317Val)
|
rs775318947
|
0.00004
|
NM_001035.3(RYR2):c.10640C>T (p.Thr3547Met)
|
rs552050895
|
0.00004
|
NM_001035.3(RYR2):c.11132T>A (p.Val3711Glu)
|
rs1036775644
|
0.00004
|
NM_001035.3(RYR2):c.1249C>G (p.Arg417Gly)
|
rs564822776
|
0.00004
|
NM_001035.3(RYR2):c.12541G>A (p.Gly4181Arg)
|
rs775477470
|
0.00004
|
NM_001035.3(RYR2):c.12837G>A (p.Met4279Ile)
|
rs750117613
|
0.00004
|
NM_001035.3(RYR2):c.12859T>C (p.Tyr4287His)
|
rs190009333
|
0.00004
|
NM_001035.3(RYR2):c.12944G>A (p.Gly4315Glu)
|
rs766109950
|
0.00004
|
NM_001035.3(RYR2):c.13249G>C (p.Glu4417Gln)
|
rs903232857
|
0.00004
|
NM_001035.3(RYR2):c.147G>C (p.Leu49Phe)
|
rs727504508
|
0.00004
|
NM_001035.3(RYR2):c.14875C>T (p.Arg4959Trp)
|
rs755308070
|
0.00004
|
NM_001035.3(RYR2):c.1574C>G (p.Ser525Cys)
|
rs776188922
|
0.00004
|
NM_001035.3(RYR2):c.1838T>C (p.Val613Ala)
|
rs1057512489
|
0.00004
|
NM_001035.3(RYR2):c.2521A>G (p.Lys841Glu)
|
rs563091152
|
0.00004
|
NM_001035.3(RYR2):c.2545G>A (p.Asp849Asn)
|
rs372569289
|
0.00004
|
NM_001035.3(RYR2):c.2629C>T (p.His877Tyr)
|
rs372575878
|
0.00004
|
NM_001035.3(RYR2):c.3025C>T (p.Arg1009Trp)
|
rs368040638
|
0.00004
|
NM_001035.3(RYR2):c.309G>A (p.Lys103=)
|
rs532274202
|
0.00004
|
NM_001035.3(RYR2):c.3397C>T (p.Arg1133Cys)
|
rs748085424
|
0.00004
|
NM_001035.3(RYR2):c.3481G>C (p.Val1161Leu)
|
rs372761438
|
0.00004
|
NM_001035.3(RYR2):c.3896T>C (p.Ile1299Thr)
|
rs772551383
|
0.00004
|
NM_001035.3(RYR2):c.3971G>C (p.Gly1324Ala)
|
rs773678614
|
0.00004
|
NM_001035.3(RYR2):c.4076T>C (p.Val1359Ala)
|
rs1005458283
|
0.00004
|
NM_001035.3(RYR2):c.5588C>T (p.Thr1863Met)
|
rs770863319
|
0.00004
|
NM_001035.3(RYR2):c.5593G>A (p.Glu1865Lys)
|
rs553819263
|
0.00004
|
NM_001035.3(RYR2):c.5662C>T (p.Arg1888Trp)
|
rs1006109370
|
0.00004
|
NM_001035.3(RYR2):c.5923A>G (p.Met1975Val)
|
rs200318013
|
0.00004
|
NM_001035.3(RYR2):c.6299G>A (p.Arg2100Gln)
|
rs796202631
|
0.00004
|
NM_001035.3(RYR2):c.7201C>T (p.Arg2401Cys)
|
rs1321283106
|
0.00004
|
NM_001035.3(RYR2):c.7428T>C (p.Tyr2476=)
|
rs770823825
|
0.00004
|
NM_001035.3(RYR2):c.7459C>A (p.Leu2487Ile)
|
rs748581317
|
0.00004
|
NM_001035.3(RYR2):c.950T>C (p.Met317Thr)
|
rs367601258
|
0.00004
|
NM_001035.3(RYR2):c.9736A>G (p.Met3246Val)
|
rs745839689
|
0.00004
|
NM_001035.3(RYR2):c.982G>A (p.Ala328Thr)
|
rs201669522
|
0.00004
|
NM_001037.5(SCN1B):c.265C>T (p.Arg89Cys)
|
rs766910280
|
0.00004
|
NM_001037.5(SCN1B):c.268G>A (p.Val90Met)
|
rs778461222
|
0.00004
|
NM_001040151.2(SCN3B):c.161T>G (p.Val54Gly)
|
rs587777555
|
0.00004
|
NM_001040151.2(SCN3B):c.416G>A (p.Arg139Gln)
|
rs770801747
|
0.00004
|
NM_001040151.2(SCN3B):c.98C>T (p.Thr33Met)
|
rs140041927
|
0.00004
|
NM_001077653.2(TBX20):c.1112G>A (p.Ser371Asn)
|
rs370394425
|
0.00004
|
NM_001077653.2(TBX20):c.350G>T (p.Gly117Val)
|
rs138597530
|
0.00004
|
NM_001079802.2(FKTN):c.877G>C (p.Val293Leu)
|
rs146900302
|
0.00004
|
NM_001103.4(ACTN2):c.1646A>T (p.Glu549Val)
|
rs149794430
|
0.00004
|
NM_001103.4(ACTN2):c.1862G>A (p.Arg621His)
|
rs368040932
|
0.00004
|
NM_001103.4(ACTN2):c.1899T>G (p.His633Gln)
|
rs727505112
|
0.00004
|
NM_001103.4(ACTN2):c.2069A>G (p.Asn690Ser)
|
rs552938924
|
0.00004
|
NM_001103.4(ACTN2):c.2552G>A (p.Arg851His)
|
rs201335965
|
0.00004
|
NM_001103.4(ACTN2):c.2602G>A (p.Ala868Thr)
|
rs143150260
|
0.00004
|
NM_001105206.3(LAMA4):c.1385G>A (p.Arg462Gln)
|
rs781977997
|
0.00004
|
NM_001105206.3(LAMA4):c.1503T>A (p.Asp501Glu)
|
rs370194991
|
0.00004
|
NM_001105206.3(LAMA4):c.1843G>A (p.Gly615Arg)
|
rs377499201
|
0.00004
|
NM_001105206.3(LAMA4):c.2143G>T (p.Ala715Ser)
|
rs140710429
|
0.00004
|
NM_001105206.3(LAMA4):c.2402C>T (p.Thr801Met)
|
rs782325644
|
0.00004
|
NM_001105206.3(LAMA4):c.3518T>C (p.Ile1173Thr)
|
rs373416378
|
0.00004
|
NM_001105206.3(LAMA4):c.3563T>G (p.Leu1188Arg)
|
rs782291756
|
0.00004
|
NM_001105206.3(LAMA4):c.3921C>A (p.Tyr1307Ter)
|
rs782630776
|
0.00004
|
NM_001105206.3(LAMA4):c.412C>T (p.His138Tyr)
|
rs727503113
|
0.00004
|
NM_001105206.3(LAMA4):c.4287+4A>G
|
rs782528136
|
0.00004
|
NM_001105206.3(LAMA4):c.5005A>G (p.Lys1669Glu)
|
rs782716382
|
0.00004
|
NM_001105206.3(LAMA4):c.667C>T (p.Arg223Cys)
|
rs372074151
|
0.00004
|
NM_001105206.3(LAMA4):c.838C>A (p.Leu280Met)
|
rs369332778
|
0.00004
|
NM_001134363.3(RBM20):c.1186G>T (p.Ala396Ser)
|
rs1160693970
|
0.00004
|
NM_001134363.3(RBM20):c.1244G>A (p.Ser415Asn)
|
rs748133931
|
0.00004
|
NM_001134363.3(RBM20):c.1553G>A (p.Arg518His)
|
rs762725902
|
0.00004
|
NM_001134363.3(RBM20):c.1814C>T (p.Ala605Val)
|
rs754805893
|
0.00004
|
NM_001134363.3(RBM20):c.224C>T (p.Ser75Leu)
|
rs191342808
|
0.00004
|
NM_001134363.3(RBM20):c.2357A>G (p.Asp786Gly)
|
rs561904103
|
0.00004
|
NM_001134363.3(RBM20):c.247C>A (p.Leu83Ile)
|
rs536357058
|
0.00004
|
NM_001134363.3(RBM20):c.2518G>A (p.Asp840Asn)
|
rs1029261119
|
0.00004
|
NM_001134363.3(RBM20):c.2688G>T (p.Glu896Asp)
|
rs950962230
|
0.00004
|
NM_001134363.3(RBM20):c.305G>A (p.Arg102Gln)
|
rs886046699
|
0.00004
|
NM_001134363.3(RBM20):c.3344C>T (p.Ser1115Phe)
|
rs769531546
|
0.00004
|
NM_001134363.3(RBM20):c.3544C>T (p.Arg1182Cys)
|
rs1171816793
|
0.00004
|
NM_001134363.3(RBM20):c.3649G>A (p.Gly1217Arg)
|
rs867232627
|
0.00004
|
NM_001134363.3(RBM20):c.42C>G (p.Ser14Arg)
|
rs541043583
|
0.00004
|
NM_001134363.3(RBM20):c.613C>A (p.Gln205Lys)
|
rs779777625
|
0.00004
|
NM_001148.6(ANK2):c.11399A>C (p.Glu3800Ala)
|
rs773222006
|
0.00004
|
NM_001148.6(ANK2):c.3623A>C (p.Lys1208Thr)
|
rs375594801
|
0.00004
|
NM_001148.6(ANK2):c.4369A>G (p.Lys1457Glu)
|
rs369038140
|
0.00004
|
NM_001148.6(ANK2):c.80A>C (p.Lys27Thr)
|
rs769843073
|
0.00004
|
NM_001232.4(CASQ2):c.376G>C (p.Asp126His)
|
rs727502908
|
0.00004
|
NM_001232.4(CASQ2):c.751C>T (p.Arg251Cys)
|
rs781113955
|
0.00004
|
NM_001267550.2(TTN):c.100163G>A (p.Ser33388Asn)
|
rs745406517
|
0.00004
|
NM_001267550.2(TTN):c.101236C>T (p.Arg33746Cys)
|
rs199594729
|
0.00004
|
NM_001267550.2(TTN):c.102275G>A (p.Arg34092His)
|
rs757918924
|
0.00004
|
NM_001267550.2(TTN):c.103430T>C (p.Ile34477Thr)
|
rs751914956
|
0.00004
|
NM_001267550.2(TTN):c.103580T>C (p.Ile34527Thr)
|
rs370618537
|
0.00004
|
NM_001267550.2(TTN):c.103658T>C (p.Ile34553Thr)
|
rs727505196
|
0.00004
|
NM_001267550.2(TTN):c.104204C>T (p.Thr34735Met)
|
rs755986938
|
0.00004
|
NM_001267550.2(TTN):c.106876T>G (p.Leu35626Val)
|
rs373152640
|
0.00004
|
NM_001267550.2(TTN):c.11615G>T (p.Gly3872Val)
|
rs751755895
|
0.00004
|
NM_001267550.2(TTN):c.13618G>A (p.Val4540Met)
|
rs201046911
|
0.00004
|
NM_001267550.2(TTN):c.13696C>T (p.Gln4566Ter)
|
rs775072385
|
0.00004
|
NM_001267550.2(TTN):c.14119G>A (p.Glu4707Lys)
|
rs749584249
|
0.00004
|
NM_001267550.2(TTN):c.14213G>A (p.Arg4738Gln)
|
rs553541436
|
0.00004
|
NM_001267550.2(TTN):c.1421C>T (p.Thr474Ile)
|
rs370824987
|
0.00004
|
NM_001267550.2(TTN):c.1447G>A (p.Ala483Thr)
|
rs34337578
|
0.00004
|
NM_001267550.2(TTN):c.1616T>A (p.Ile539Asn)
|
rs774503024
|
0.00004
|
NM_001267550.2(TTN):c.2084T>C (p.Val695Ala)
|
rs727503702
|
0.00004
|
NM_001267550.2(TTN):c.24454G>A (p.Val8152Ile)
|
rs397517507
|
0.00004
|
NM_001267550.2(TTN):c.2494G>T (p.Ala832Ser)
|
rs376133574
|
0.00004
|
NM_001267550.2(TTN):c.2854G>C (p.Val952Leu)
|
rs373848402
|
0.00004
|
NM_001267550.2(TTN):c.3103T>G (p.Ser1035Ala)
|
rs762133521
|
0.00004
|
NM_001267550.2(TTN):c.40558+1G>A
|
rs368219776
|
0.00004
|
NM_001267550.2(TTN):c.41920G>A (p.Val13974Ile)
|
rs373881831
|
0.00004
|
NM_001267550.2(TTN):c.42434T>C (p.Met14145Thr)
|
rs794729427
|
0.00004
|
NM_001267550.2(TTN):c.42848G>A (p.Arg14283His)
|
rs767899169
|
0.00004
|
NM_001267550.2(TTN):c.43045G>A (p.Gly14349Ser)
|
rs781452930
|
0.00004
|
NM_001267550.2(TTN):c.44020G>A (p.Glu14674Lys)
|
rs794729432
|
0.00004
|
NM_001267550.2(TTN):c.44113G>A (p.Ala14705Thr)
|
rs751017081
|
0.00004
|
NM_001267550.2(TTN):c.45128G>A (p.Ser15043Asn)
|
rs376144178
|
0.00004
|
NM_001267550.2(TTN):c.46037G>A (p.Arg15346His)
|
rs367996763
|
0.00004
|
NM_001267550.2(TTN):c.46363G>A (p.Asp15455Asn)
|
rs370813526
|
0.00004
|
NM_001267550.2(TTN):c.46591G>A (p.Gly15531Arg)
|
rs761815745
|
0.00004
|
NM_001267550.2(TTN):c.47089C>T (p.Arg15697Cys)
|
rs780334981
|
0.00004
|
NM_001267550.2(TTN):c.47278G>A (p.Gly15760Ser)
|
rs372404266
|
0.00004
|
NM_001267550.2(TTN):c.48395G>A (p.Arg16132His)
|
rs397517593
|
0.00004
|
NM_001267550.2(TTN):c.48571A>G (p.Ile16191Val)
|
rs747433688
|
0.00004
|
NM_001267550.2(TTN):c.51841T>C (p.Trp17281Arg)
|
rs368846015
|
0.00004
|
NM_001267550.2(TTN):c.5255G>A (p.Arg1752His)
|
rs150737838
|
0.00004
|
NM_001267550.2(TTN):c.53060G>T (p.Gly17687Val)
|
rs780672348
|
0.00004
|
NM_001267550.2(TTN):c.54115G>A (p.Asp18039Asn)
|
rs765148928
|
0.00004
|
NM_001267550.2(TTN):c.54649A>G (p.Ser18217Gly)
|
rs201001270
|
0.00004
|
NM_001267550.2(TTN):c.5582G>A (p.Arg1861His)
|
rs140914855
|
0.00004
|
NM_001267550.2(TTN):c.55915G>A (p.Val18639Met)
|
rs727503596
|
0.00004
|
NM_001267550.2(TTN):c.56581G>A (p.Ala18861Thr)
|
rs368419410
|
0.00004
|
NM_001267550.2(TTN):c.56686G>A (p.Val18896Met)
|
rs370629962
|
0.00004
|
NM_001267550.2(TTN):c.57956A>G (p.Tyr19319Cys)
|
rs369082749
|
0.00004
|
NM_001267550.2(TTN):c.58470T>A (p.Asp19490Glu)
|
rs374118468
|
0.00004
|
NM_001267550.2(TTN):c.58939G>A (p.Gly19647Arg)
|
rs201430346
|
0.00004
|
NM_001267550.2(TTN):c.59033T>C (p.Ile19678Thr)
|
rs746014701
|
0.00004
|
NM_001267550.2(TTN):c.61276C>T (p.Leu20426Phe)
|
rs377529060
|
0.00004
|
NM_001267550.2(TTN):c.61588C>A (p.Pro20530Thr)
|
rs755700079
|
0.00004
|
NM_001267550.2(TTN):c.62780G>A (p.Arg20927His)
|
rs397517652
|
0.00004
|
NM_001267550.2(TTN):c.62816G>A (p.Arg20939His)
|
rs777095470
|
0.00004
|
NM_001267550.2(TTN):c.63463C>T (p.Arg21155Cys)
|
rs374727686
|
0.00004
|
NM_001267550.2(TTN):c.63994C>A (p.Pro21332Thr)
|
rs879031561
|
0.00004
|
NM_001267550.2(TTN):c.64681G>A (p.Gly21561Ser)
|
rs200355808
|
0.00004
|
NM_001267550.2(TTN):c.65047C>A (p.Pro21683Thr)
|
rs528707403
|
0.00004
|
NM_001267550.2(TTN):c.65590G>C (p.Asp21864His)
|
rs375149365
|
0.00004
|
NM_001267550.2(TTN):c.65782C>T (p.Arg21928Trp)
|
rs371856109
|
0.00004
|
NM_001267550.2(TTN):c.66568G>C (p.Gly22190Arg)
|
rs757537780
|
0.00004
|
NM_001267550.2(TTN):c.67147G>A (p.Gly22383Arg)
|
rs372388682
|
0.00004
|
NM_001267550.2(TTN):c.67882G>A (p.Val22628Ile)
|
rs775731759
|
0.00004
|
NM_001267550.2(TTN):c.68599T>C (p.Tyr22867His)
|
rs368484355
|
0.00004
|
NM_001267550.2(TTN):c.68887A>C (p.Thr22963Pro)
|
rs771761816
|
0.00004
|
NM_001267550.2(TTN):c.70039G>C (p.Asp23347His)
|
rs371752797
|
0.00004
|
NM_001267550.2(TTN):c.70831G>A (p.Ala23611Thr)
|
rs373765469
|
0.00004
|
NM_001267550.2(TTN):c.71341G>A (p.Val23781Ile)
|
rs146483596
|
0.00004
|
NM_001267550.2(TTN):c.71399G>A (p.Arg23800His)
|
rs537705563
|
0.00004
|
NM_001267550.2(TTN):c.71774T>A (p.Ile23925Asn)
|
rs374887185
|
0.00004
|
NM_001267550.2(TTN):c.7331-3C>T
|
rs772008843
|
0.00004
|
NM_001267550.2(TTN):c.74225G>A (p.Arg24742His)
|
rs761823581
|
0.00004
|
NM_001267550.2(TTN):c.74513G>C (p.Gly24838Ala)
|
rs200723435
|
0.00004
|
NM_001267550.2(TTN):c.74582C>T (p.Ala24861Val)
|
rs149232991
|
0.00004
|
NM_001267550.2(TTN):c.75668C>T (p.Thr25223Ile)
|
rs370070176
|
0.00004
|
NM_001267550.2(TTN):c.75954G>T (p.Lys25318Asn)
|
rs1001852514
|
0.00004
|
NM_001267550.2(TTN):c.75997G>A (p.Gly25333Ser)
|
rs757343393
|
0.00004
|
NM_001267550.2(TTN):c.76051T>C (p.Trp25351Arg)
|
rs201839118
|
0.00004
|
NM_001267550.2(TTN):c.7619G>A (p.Arg2540His)
|
rs397517725
|
0.00004
|
NM_001267550.2(TTN):c.78383G>A (p.Arg26128His)
|
rs757957389
|
0.00004
|
NM_001267550.2(TTN):c.79969G>T (p.Asp26657Tyr)
|
rs781076407
|
0.00004
|
NM_001267550.2(TTN):c.80942G>A (p.Arg26981Gln)
|
rs768308408
|
0.00004
|
NM_001267550.2(TTN):c.82474C>T (p.Arg27492Cys)
|
rs767221784
|
0.00004
|
NM_001267550.2(TTN):c.83572G>A (p.Val27858Ile)
|
rs778221988
|
0.00004
|
NM_001267550.2(TTN):c.86873G>A (p.Ser28958Asn)
|
rs199639729
|
0.00004
|
NM_001267550.2(TTN):c.88513C>T (p.Arg29505Cys)
|
rs372360369
|
0.00004
|
NM_001267550.2(TTN):c.89309T>C (p.Val29770Ala)
|
rs755018367
|
0.00004
|
NM_001267550.2(TTN):c.89491A>G (p.Lys29831Glu)
|
rs774632104
|
0.00004
|
NM_001267550.2(TTN):c.89906T>C (p.Val29969Ala)
|
rs201220828
|
0.00004
|
NM_001267550.2(TTN):c.90748G>A (p.Glu30250Lys)
|
rs200651247
|
0.00004
|
NM_001267550.2(TTN):c.91307G>A (p.Arg30436Gln)
|
rs770081431
|
0.00004
|
NM_001267550.2(TTN):c.91883G>A (p.Arg30628Lys)
|
rs780476250
|
0.00004
|
NM_001267550.2(TTN):c.93724C>T (p.Arg31242Cys)
|
rs563887822
|
0.00004
|
NM_001267550.2(TTN):c.93968C>T (p.Ala31323Val)
|
rs200345129
|
0.00004
|
NM_001267550.2(TTN):c.94507G>A (p.Ala31503Thr)
|
rs375657115
|
0.00004
|
NM_001267550.2(TTN):c.9650A>C (p.Glu3217Ala)
|
rs1014216424
|
0.00004
|
NM_001267550.2(TTN):c.97973G>A (p.Arg32658Gln)
|
rs769581585
|
0.00004
|
NM_001267550.2(TTN):c.9827A>G (p.Glu3276Gly)
|
rs377049518
|
0.00004
|
NM_001267550.2(TTN):c.98750C>T (p.Ser32917Phe)
|
rs561932256
|
0.00004
|
NM_001267550.2(TTN):c.98759G>A (p.Arg32920Gln)
|
rs752015224
|
0.00004
|
NM_001267550.2(TTN):c.99295G>C (p.Glu33099Gln)
|
rs754827854
|
0.00004
|
NM_001267550.2(TTN):c.99521T>C (p.Ile33174Thr)
|
rs879116103
|
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.461G>A (p.Arg154Gln)
|
rs745632066
|
0.00004
|
NM_001276345.2(TNNT2):c.706G>A (p.Glu236Lys)
|
rs730881107
|
0.00004
|
NM_001276345.2(TNNT2):c.779T>C (p.Leu260Pro)
|
rs376037051
|
0.00004
|
NM_001308093.3(GATA4):c.30C>A (p.Asn10Lys)
|
rs1274085631
|
0.00004
|
NM_001308093.3(GATA4):c.994C>T (p.Pro332Ser)
|
rs768967856
|
0.00004
|
NM_001365276.2(TNXB):c.10258A>G (p.Arg3420Gly)
|
rs199563047
|
0.00004
|
NM_001365276.2(TNXB):c.1871A>C (p.Asn624Thr)
|
rs1042697787
|
0.00004
|
NM_001365276.2(TNXB):c.2980C>T (p.Arg994Cys)
|
rs201292165
|
0.00004
|
NM_001365276.2(TNXB):c.5330G>A (p.Arg1777His)
|
rs767799073
|
0.00004
|
NM_001365276.2(TNXB):c.5440G>A (p.Asp1814Asn)
|
rs748731285
|
0.00004
|
NM_001365276.2(TNXB):c.6730G>A (p.Glu2244Lys)
|
rs377071098
|
0.00004
|
NM_001365276.2(TNXB):c.7253C>T (p.Thr2418Ile)
|
rs769498174
|
0.00004
|
NM_001365276.2(TNXB):c.7813G>A (p.Val2605Met)
|
rs746237539
|
0.00004
|
NM_001365276.2(TNXB):c.788G>A (p.Arg263His)
|
rs371229076
|
0.00004
|
NM_001365276.2(TNXB):c.9176T>A (p.Ile3059Asn)
|
rs1376678138
|
0.00004
|
NM_001365276.2(TNXB):c.9725G>A (p.Arg3242His)
|
rs374187712
|
0.00004
|
NM_001365276.2(TNXB):c.9727G>A (p.Val3243Met)
|
rs770130227
|
0.00004
|
NM_001367624.2(ZNF469):c.11126G>A (p.Gly3709Glu)
|
rs1024312183
|
0.00004
|
NM_001367624.2(ZNF469):c.11530C>T (p.Pro3844Ser)
|
rs866162306
|
0.00004
|
NM_001367624.2(ZNF469):c.11566C>T (p.Arg3856Cys)
|
rs762894872
|
0.00004
|
NM_001367624.2(ZNF469):c.1654G>A (p.Gly552Arg)
|
rs769955501
|
0.00004
|
NM_001367624.2(ZNF469):c.2500A>G (p.Met834Val)
|
rs1038974205
|
0.00004
|
NM_001367624.2(ZNF469):c.2534C>T (p.Thr845Ile)
|
rs954465163
|
0.00004
|
NM_001367624.2(ZNF469):c.290C>T (p.Pro97Leu)
|
rs273585617
|
0.00004
|
NM_001367624.2(ZNF469):c.3332T>C (p.Phe1111Ser)
|
rs765069829
|
0.00004
|
NM_001367624.2(ZNF469):c.3672G>C (p.Glu1224Asp)
|
rs757366332
|
0.00004
|
NM_001367624.2(ZNF469):c.4276G>A (p.Glu1426Lys)
|
rs868174994
|
0.00004
|
NM_001367624.2(ZNF469):c.491C>T (p.Pro164Leu)
|
rs755989926
|
0.00004
|
NM_001367624.2(ZNF469):c.536G>C (p.Gly179Ala)
|
rs760014906
|
0.00004
|
NM_001367624.2(ZNF469):c.5825G>T (p.Gly1942Val)
|
rs977906765
|
0.00004
|
NM_001367624.2(ZNF469):c.8179G>A (p.Asp2727Asn)
|
rs1023194931
|
0.00004
|
NM_001367624.2(ZNF469):c.9960G>T (p.Glu3320Asp)
|
rs958260291
|
0.00004
|
NM_001368067.1(LDB3):c.802C>T (p.Arg268Cys)
|
rs121908335
|
0.00004
|
NM_001378454.1(ALMS1):c.10823G>A (p.Arg3608Gln)
|
rs752052259
|
0.00004
|
NM_001378454.1(ALMS1):c.11032C>T (p.Arg3678Trp)
|
rs766771102
|
0.00004
|
NM_001378454.1(ALMS1):c.11293A>G (p.Ile3765Val)
|
rs758062371
|
0.00004
|
NM_001378454.1(ALMS1):c.11567C>T (p.Ser3856Phe)
|
rs1414717577
|
0.00004
|
NM_001378454.1(ALMS1):c.11863T>G (p.Ser3955Ala)
|
rs45528134
|
0.00004
|
NM_001378454.1(ALMS1):c.11888T>C (p.Val3963Ala)
|
rs201777220
|
0.00004
|
NM_001378454.1(ALMS1):c.11893G>T (p.Val3965Leu)
|
rs199683521
|
0.00004
|
NM_001378454.1(ALMS1):c.12173G>A (p.Arg4058His)
|
rs61743400
|
0.00004
|
NM_001378454.1(ALMS1):c.12284C>T (p.Pro4095Leu)
|
rs750502331
|
0.00004
|
NM_001378454.1(ALMS1):c.1339C>G (p.Pro447Ala)
|
rs377283762
|
0.00004
|
NM_001378454.1(ALMS1):c.1400C>T (p.Thr467Ile)
|
rs201990757
|
0.00004
|
NM_001378454.1(ALMS1):c.1420C>A (p.His474Asn)
|
rs200454461
|
0.00004
|
NM_001378454.1(ALMS1):c.1886G>A (p.Gly629Asp)
|
rs531859344
|
0.00004
|
NM_001378454.1(ALMS1):c.1971G>T (p.Gln657His)
|
rs753296810
|
0.00004
|
NM_001378454.1(ALMS1):c.2269C>T (p.Pro757Ser)
|
rs200827630
|
0.00004
|
NM_001378454.1(ALMS1):c.3319T>C (p.Tyr1107His)
|
rs746162373
|
0.00004
|
NM_001378454.1(ALMS1):c.3464A>C (p.His1155Pro)
|
rs553406974
|
0.00004
|
NM_001378454.1(ALMS1):c.4324G>T (p.Val1442Phe)
|
rs375842278
|
0.00004
|
NM_001378454.1(ALMS1):c.4448T>C (p.Ile1483Thr)
|
rs370271775
|
0.00004
|
NM_001378454.1(ALMS1):c.536C>T (p.Thr179Met)
|
rs768531502
|
0.00004
|
NM_001378454.1(ALMS1):c.5444C>T (p.Ser1815Phe)
|
rs528863432
|
0.00004
|
NM_001378454.1(ALMS1):c.6815T>C (p.Met2272Thr)
|
rs1330734793
|
0.00004
|
NM_001378454.1(ALMS1):c.6853C>T (p.Arg2285Cys)
|
rs375458331
|
0.00004
|
NM_001378454.1(ALMS1):c.6926C>T (p.Thr2309Met)
|
rs147001219
|
0.00004
|
NM_001378454.1(ALMS1):c.7276T>G (p.Cys2426Gly)
|
rs549778430
|
0.00004
|
NM_001378454.1(ALMS1):c.7441G>A (p.Ala2481Thr)
|
rs760068474
|
0.00004
|
NM_001378454.1(ALMS1):c.7445A>G (p.His2482Arg)
|
rs199698329
|
0.00004
|
NM_001378454.1(ALMS1):c.7525C>T (p.Arg2509Trp)
|
rs34183407
|
0.00004
|
NM_001378454.1(ALMS1):c.7577G>A (p.Gly2526Glu)
|
rs201654702
|
0.00004
|
NM_001378454.1(ALMS1):c.7812C>G (p.Phe2604Leu)
|
rs201739856
|
0.00004
|
NM_001378454.1(ALMS1):c.7816T>C (p.Ser2606Pro)
|
rs532551687
|
0.00004
|
NM_001378454.1(ALMS1):c.8035T>G (p.Trp2679Gly)
|
rs1403694361
|
0.00004
|
NM_001378454.1(ALMS1):c.8711A>C (p.His2904Pro)
|
rs370508584
|
0.00004
|
NM_001378454.1(ALMS1):c.8780G>A (p.Arg2927Gln)
|
rs778162209
|
0.00004
|
NM_001378454.1(ALMS1):c.9173A>G (p.Lys3058Arg)
|
rs149329669
|
0.00004
|
NM_001378454.1(ALMS1):c.9263A>G (p.His3088Arg)
|
rs376083621
|
0.00004
|
NM_001378454.1(ALMS1):c.9386A>C (p.Gln3129Pro)
|
rs372015288
|
0.00004
|
NM_001378454.1(ALMS1):c.955A>G (p.Asn319Asp)
|
rs376892136
|
0.00004
|
NM_001378454.1(ALMS1):c.9713G>A (p.Arg3238His)
|
rs1176919572
|
0.00004
|
NM_001378454.1(ALMS1):c.9866C>T (p.Pro3289Leu)
|
rs369660958
|
0.00004
|
NM_001378969.1(KCND3):c.626C>T (p.Thr209Met)
|
rs771878661
|
0.00004
|
NM_001379200.1(TBX1):c.1127G>A (p.Arg376Gln)
|
rs548714133
|
0.00004
|
NM_001458.5(FLNC):c.1082G>A (p.Arg361His)
|
rs752888774
|
0.00004
|
NM_001458.5(FLNC):c.1225G>A (p.Asp409Asn)
|
rs371913931
|
0.00004
|
NM_001458.5(FLNC):c.1228G>C (p.Val410Leu)
|
rs993836469
|
0.00004
|
NM_001458.5(FLNC):c.1243G>A (p.Val415Met)
|
rs369182765
|
0.00004
|
NM_001458.5(FLNC):c.1261C>T (p.Arg421Trp)
|
rs759075520
|
0.00004
|
NM_001458.5(FLNC):c.140A>G (p.Asn47Ser)
|
rs770861991
|
0.00004
|
NM_001458.5(FLNC):c.1802T>C (p.Val601Ala)
|
rs763590899
|
0.00004
|
NM_001458.5(FLNC):c.2075T>C (p.Ile692Thr)
|
rs538863259
|
0.00004
|
NM_001458.5(FLNC):c.2164G>A (p.Gly722Ser)
|
rs762248114
|
0.00004
|
NM_001458.5(FLNC):c.2737G>A (p.Glu913Lys)
|
rs774707336
|
0.00004
|
NM_001458.5(FLNC):c.2842G>A (p.Gly948Arg)
|
rs768103657
|
0.00004
|
NM_001458.5(FLNC):c.3004C>T (p.Arg1002Trp)
|
rs555764780
|
0.00004
|
NM_001458.5(FLNC):c.3133C>A (p.His1045Asn)
|
rs201863231
|
0.00004
|
NM_001458.5(FLNC):c.318C>G (p.Phe106Leu)
|
rs886037829
|
0.00004
|
NM_001458.5(FLNC):c.3680C>T (p.Thr1227Ile)
|
rs373573447
|
0.00004
|
NM_001458.5(FLNC):c.3722G>A (p.Arg1241His)
|
rs370520806
|
0.00004
|
NM_001458.5(FLNC):c.3949A>G (p.Thr1317Ala)
|
rs377555574
|
0.00004
|
NM_001458.5(FLNC):c.4003G>A (p.Val1335Met)
|
rs368220468
|
0.00004
|
NM_001458.5(FLNC):c.4556A>G (p.Tyr1519Cys)
|
rs1012086057
|
0.00004
|
NM_001458.5(FLNC):c.4660A>C (p.Ile1554Leu)
|
rs754224673
|
0.00004
|
NM_001458.5(FLNC):c.4771C>T (p.Arg1591Trp)
|
rs576453637
|
0.00004
|
NM_001458.5(FLNC):c.4880G>A (p.Arg1627His)
|
rs751592993
|
0.00004
|
NM_001458.5(FLNC):c.5477A>G (p.Tyr1826Cys)
|
rs756197388
|
0.00004
|
NM_001458.5(FLNC):c.6048C>T (p.Ser2016=)
|
rs369991887
|
0.00004
|
NM_001458.5(FLNC):c.6977G>A (p.Arg2326Gln)
|
rs201028676
|
0.00004
|
NM_001458.5(FLNC):c.7229G>A (p.Arg2410His)
|
rs558239439
|
0.00004
|
NM_001458.5(FLNC):c.7618G>C (p.Val2540Leu)
|
rs746349463
|
0.00004
|
NM_001458.5(FLNC):c.81C>A (p.Asp27Glu)
|
rs1318316375
|
0.00004
|
NM_001458.5(FLNC):c.925G>A (p.Glu309Lys)
|
rs781212262
|
0.00004
|
NM_001711.6(BGN):c.181G>A (p.Ala61Thr)
|
rs782672273
|
0.00004
|
NM_001743.6(CALM2):c.285+5G>A
|
rs760654198
|
0.00004
|
NM_001927.4(DES):c.109C>T (p.Arg37Trp)
|
rs537881554
|
0.00004
|
NM_001927.4(DES):c.1158C>T (p.Arg386=)
|
rs774323736
|
0.00004
|
NM_001927.4(DES):c.1243C>T (p.Arg415Trp)
|
rs751942358
|
0.00004
|
NM_001927.4(DES):c.268G>C (p.Asp90His)
|
rs1267102255
|
0.00004
|
NM_001927.4(DES):c.662C>T (p.Ala221Val)
|
rs746814065
|
0.00004
|
NM_001927.4(DES):c.937G>A (p.Ala313Thr)
|
rs766252091
|
0.00004
|
NM_001943.5(DSG2):c.-1G>C
|
rs1012160082
|
0.00004
|
NM_001943.5(DSG2):c.1885C>T (p.Pro629Ser)
|
rs200804638
|
0.00004
|
NM_001943.5(DSG2):c.1903T>C (p.Cys635Arg)
|
rs940804506
|
0.00004
|
NM_001943.5(DSG2):c.208A>G (p.Ile70Val)
|
rs769713919
|
0.00004
|
NM_001943.5(DSG2):c.2328C>A (p.Phe776Leu)
|
rs771104668
|
0.00004
|
NM_001943.5(DSG2):c.2405A>G (p.Glu802Gly)
|
rs763315024
|
0.00004
|
NM_001943.5(DSG2):c.2702A>G (p.Lys901Arg)
|
rs886039190
|
0.00004
|
NM_001943.5(DSG2):c.3129T>G (p.Asn1043Lys)
|
rs727502992
|
0.00004
|
NM_001943.5(DSG2):c.3167C>T (p.Thr1056Ile)
|
rs767538450
|
0.00004
|
NM_001943.5(DSG2):c.3293C>G (p.Ser1098Cys)
|
rs2848673
|
0.00004
|
NM_001943.5(DSG2):c.593A>G (p.Tyr198Cys)
|
rs786204291
|
0.00004
|
NM_002230.4(JUP):c.1219G>A (p.Val407Ile)
|
rs370913228
|
0.00004
|
NM_002230.4(JUP):c.1486C>A (p.Pro496Thr)
|
rs1220042864
|
0.00004
|
NM_002230.4(JUP):c.161C>T (p.Thr54Met)
|
rs782529328
|
0.00004
|
NM_002230.4(JUP):c.2104C>T (p.Arg702Cys)
|
rs545547083
|
0.00004
|
NM_002230.4(JUP):c.2105G>A (p.Arg702His)
|
rs200690479
|
0.00004
|
NM_002230.4(JUP):c.329C>T (p.Ala110Val)
|
rs782770278
|
0.00004
|
NM_002230.4(JUP):c.746C>T (p.Thr249Met)
|
rs377612199
|
0.00004
|
NM_002294.3(LAMP2):c.1091C>T (p.Thr364Ile)
|
rs183781327
|
0.00004
|
NM_002294.3(LAMP2):c.1137A>G (p.Ile379Met)
|
rs730880126
|
0.00004
|
NM_002294.3(LAMP2):c.29C>T (p.Pro10Leu)
|
rs769378984
|
0.00004
|
NM_002317.7(LOX):c.1222T>C (p.Tyr408His)
|
rs765126342
|
0.00004
|
NM_002317.7(LOX):c.493G>C (p.Gly165Arg)
|
rs749364042
|
0.00004
|
NM_002471.4(MYH6):c.1639A>G (p.Met547Val)
|
rs760722098
|
0.00004
|
NM_002471.4(MYH6):c.2353C>T (p.Arg785Cys)
|
rs543524943
|
0.00004
|
NM_002471.4(MYH6):c.2384G>A (p.Arg795Gln)
|
rs267606907
|
0.00004
|
NM_002471.4(MYH6):c.2612G>A (p.Arg871His)
|
rs869025473
|
0.00004
|
NM_002471.4(MYH6):c.268A>G (p.Met90Val)
|
rs778199745
|
0.00004
|
NM_002471.4(MYH6):c.2929G>C (p.Val977Leu)
|
rs141079114
|
0.00004
|
NM_002471.4(MYH6):c.2965G>A (p.Glu989Lys)
|
rs369774403
|
0.00004
|
NM_002471.4(MYH6):c.3124C>A (p.Gln1042Lys)
|
rs756244326
|
0.00004
|
NM_002471.4(MYH6):c.3287T>C (p.Ile1096Thr)
|
rs762901493
|
0.00004
|
NM_002471.4(MYH6):c.3413G>A (p.Arg1138His)
|
rs745801044
|
0.00004
|
NM_002471.4(MYH6):c.3476C>T (p.Thr1159Met)
|
rs780305056
|
0.00004
|
NM_002471.4(MYH6):c.3569C>T (p.Thr1190Ile)
|
rs759117852
|
0.00004
|
NM_002471.4(MYH6):c.3618C>T (p.Gly1206=)
|
rs765103086
|
0.00004
|
NM_002471.4(MYH6):c.4082G>A (p.Arg1361His)
|
rs533942127
|
0.00004
|
NM_002471.4(MYH6):c.4684C>T (p.Arg1562Trp)
|
rs756237624
|
0.00004
|
NM_002471.4(MYH6):c.4822C>T (p.Arg1608Cys)
|
rs201683868
|
0.00004
|
NM_002471.4(MYH6):c.4993G>A (p.Ala1665Thr)
|
rs374271404
|
0.00004
|
NM_002471.4(MYH6):c.5196G>A (p.Met1732Ile)
|
rs1028831815
|
0.00004
|
NM_002471.4(MYH6):c.5513C>T (p.Ser1838Leu)
|
rs747673552
|
0.00004
|
NM_002471.4(MYH6):c.5594G>A (p.Arg1865Gln)
|
rs138720701
|
0.00004
|
NM_002471.4(MYH6):c.5735C>T (p.Ala1912Val)
|
rs373076710
|
0.00004
|
NM_002471.4(MYH6):c.928G>A (p.Asp310Asn)
|
rs374692396
|
0.00004
|
NM_002471.4(MYH6):c.982G>A (p.Glu328Lys)
|
rs144422878
|
0.00004
|
NM_002667.5(PLN):c.145G>A (p.Val49Met)
|
rs749962743
|
0.00004
|
NM_002834.5(PTPN11):c.173A>G (p.Asn58Ser)
|
rs751437780
|
0.00004
|
NM_002880.4(RAF1):c.1663G>C (p.Asp555His)
|
rs371704292
|
0.00004
|
NM_002880.4(RAF1):c.1913C>T (p.Thr638Met)
|
rs730881007
|
0.00004
|
NM_002890.3(RASA1):c.1373A>C (p.Glu458Ala)
|
rs772447424
|
0.00004
|
NM_002890.3(RASA1):c.370C>T (p.Leu124Phe)
|
rs200883284
|
0.00004
|
NM_003098.3(SNTA1):c.1180C>T (p.Arg394Cys)
|
rs567451585
|
0.00004
|
NM_003098.3(SNTA1):c.388T>C (p.Phe130Leu)
|
rs199964677
|
0.00004
|
NM_003098.3(SNTA1):c.452C>T (p.Ala151Val)
|
rs772936861
|
0.00004
|
NM_003098.3(SNTA1):c.556G>A (p.Gly186Ser)
|
rs200755101
|
0.00004
|
NM_003098.3(SNTA1):c.992G>A (p.Arg331His)
|
rs575431717
|
0.00004
|
NM_003476.5(CSRP3):c.230C>G (p.Ala77Gly)
|
rs772138289
|
0.00004
|
NM_003476.5(CSRP3):c.298C>T (p.Arg100Cys)
|
rs201214593
|
0.00004
|
NM_003476.5(CSRP3):c.365G>A (p.Arg122Gln)
|
rs193922667
|
0.00004
|
NM_003476.5(CSRP3):c.436C>T (p.Arg146Cys)
|
rs376198883
|
0.00004
|
NM_003476.5(CSRP3):c.536C>T (p.Thr179Met)
|
rs142019584
|
0.00004
|
NM_003673.4(TCAP):c.460C>T (p.Arg154Cys)
|
rs755539784
|
0.00004
|
NM_003803.4(MYOM1):c.3244G>A (p.Ala1082Thr)
|
rs968079688
|
0.00004
|
NM_004006.3(DMD):c.10592A>G (p.His3531Arg)
|
rs886043324
|
0.00004
|
NM_004006.3(DMD):c.1159A>G (p.Met387Val)
|
rs770202940
|
0.00004
|
NM_004006.3(DMD):c.1309G>C (p.Ala437Pro)
|
rs748964279
|
0.00004
|
NM_004006.3(DMD):c.1518G>T (p.Arg506Ser)
|
rs755456119
|
0.00004
|
NM_004006.3(DMD):c.1924G>A (p.Ala642Thr)
|
rs779138399
|
0.00004
|
NM_004006.3(DMD):c.2117C>A (p.Pro706Gln)
|
rs781015830
|
0.00004
|
NM_004006.3(DMD):c.2346A>T (p.Arg782Ser)
|
rs150692967
|
0.00004
|
NM_004006.3(DMD):c.4397A>G (p.Asn1466Ser)
|
rs910214749
|
0.00004
|
NM_004006.3(DMD):c.4467A>C (p.Glu1489Asp)
|
rs373162382
|
0.00004
|
NM_004006.3(DMD):c.6049C>A (p.Leu2017Ile)
|
rs201532491
|
0.00004
|
NM_004006.3(DMD):c.8926G>A (p.Glu2976Lys)
|
rs142128738
|
0.00004
|
NM_004006.3(DMD):c.9094G>A (p.Glu3032Lys)
|
rs72466562
|
0.00004
|
NM_004100.5(EYA4):c.1223G>A (p.Arg408His)
|
rs760787542
|
0.00004
|
NM_004100.5(EYA4):c.263C>G (p.Pro88Arg)
|
rs727503050
|
0.00004
|
NM_004100.5(EYA4):c.529G>A (p.Val177Ile)
|
rs776409783
|
0.00004
|
NM_004281.4(BAG3):c.1157C>A (p.Ser386Tyr)
|
rs756178548
|
0.00004
|
NM_004281.4(BAG3):c.1291A>G (p.Lys431Glu)
|
rs1374652846
|
0.00004
|
NM_004281.4(BAG3):c.1625C>T (p.Ala542Val)
|
rs770920565
|
0.00004
|
NM_004281.4(BAG3):c.191C>T (p.Ser64Phe)
|
rs780615753
|
0.00004
|
NM_004281.4(BAG3):c.316C>T (p.Arg106Trp)
|
rs767341152
|
0.00004
|
NM_004281.4(BAG3):c.652C>T (p.Arg218Trp)
|
rs397514506
|
0.00004
|
NM_004281.4(BAG3):c.679C>G (p.Gln227Glu)
|
rs149517238
|
0.00004
|
NM_004281.4(BAG3):c.743A>G (p.His248Arg)
|
rs369947845
|
0.00004
|
NM_004281.4(BAG3):c.968G>A (p.Ser323Asn)
|
rs754387872
|
0.00004
|
NM_004387.4(NKX2-5):c.188C>T (p.Ala63Val)
|
rs530270916
|
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.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_004415.4(DSP):c.1222A>C (p.Asn408His)
|
rs142129767
|
0.00004
|
NM_004415.4(DSP):c.137G>A (p.Gly46Asp)
|
rs140403872
|
0.00004
|
NM_004415.4(DSP):c.1469G>A (p.Arg490His)
|
rs747815091
|
0.00004
|
NM_004415.4(DSP):c.2308G>A (p.Val770Ile)
|
rs1225927424
|
0.00004
|
NM_004415.4(DSP):c.2622C>G (p.Ile874Met)
|
rs751067479
|
0.00004
|
NM_004415.4(DSP):c.2631-5C>T
|
rs773772683
|
0.00004
|
NM_004415.4(DSP):c.2866A>T (p.Asn956Tyr)
|
rs397516928
|
0.00004
|
NM_004415.4(DSP):c.3904C>T (p.Arg1302Cys)
|
rs775594375
|
0.00004
|
NM_004415.4(DSP):c.4199G>A (p.Arg1400Gln)
|
rs748109826
|
0.00004
|
NM_004415.4(DSP):c.4490G>A (p.Arg1497Gln)
|
rs727505037
|
0.00004
|
NM_004415.4(DSP):c.4696C>G (p.Leu1566Val)
|
rs201785897
|
0.00004
|
NM_004415.4(DSP):c.4915G>A (p.Val1639Met)
|
rs539587517
|
0.00004
|
NM_004415.4(DSP):c.4996C>T (p.Arg1666Trp)
|
rs758312365
|
0.00004
|
NM_004415.4(DSP):c.4997G>A (p.Arg1666Gln)
|
rs768577891
|
0.00004
|
NM_004415.4(DSP):c.5194G>A (p.Asp1732Asn)
|
rs780224658
|
0.00004
|
NM_004415.4(DSP):c.5668A>G (p.Arg1890Gly)
|
rs762079110
|
0.00004
|
NM_004415.4(DSP):c.5795G>A (p.Arg1932His)
|
rs770522444
|
0.00004
|
NM_004415.4(DSP):c.5839T>C (p.Tyr1947His)
|
rs767259019
|
0.00004
|
NM_004415.4(DSP):c.596G>A (p.Arg199Lys)
|
rs143648545
|
0.00004
|
NM_004415.4(DSP):c.6442G>A (p.Ala2148Thr)
|
rs144539278
|
0.00004
|
NM_004415.4(DSP):c.6595C>T (p.Leu2199Phe)
|
rs549451471
|
0.00004
|
NM_004415.4(DSP):c.7738G>T (p.Asp2580Tyr)
|
rs371129517
|
0.00004
|
NM_004415.4(DSP):c.7970C>T (p.Thr2657Ile)
|
rs1478775642
|
0.00004
|
NM_004415.4(DSP):c.8084T>A (p.Phe2695Tyr)
|
rs764994940
|
0.00004
|
NM_004415.4(DSP):c.8117A>T (p.Lys2706Met)
|
rs537588390
|
0.00004
|
NM_004415.4(DSP):c.8209G>C (p.Val2737Leu)
|
rs149123428
|
0.00004
|
NM_004415.4(DSP):c.8500C>T (p.Arg2834Cys)
|
rs753033333
|
0.00004
|
NM_004415.4(DSP):c.8590T>C (p.Phe2864Leu)
|
rs764514210
|
0.00004
|
NM_004415.4(DSP):c.939C>T (p.Ser313=)
|
rs766580649
|
0.00004
|
NM_004517.4(ILK):c.503T>G (p.Phe168Cys)
|
rs747974626
|
0.00004
|
NM_004517.4(ILK):c.521G>A (p.Arg174His)
|
rs192233749
|
0.00004
|
NM_004588.5(SCN2B):c.461G>A (p.Arg154Gln)
|
rs753389706
|
0.00004
|
NM_005159.5(ACTC1):c.28C>A (p.Leu10Met)
|
rs397517057
|
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_005188.4(CBL):c.195+3G>A
|
rs762062705
|
0.00004
|
NM_005188.4(CBL):c.2083G>A (p.Glu695Lys)
|
rs143975631
|
0.00004
|
NM_005188.4(CBL):c.2614C>A (p.Gln872Lys)
|
rs746795014
|
0.00004
|
NM_005472.5(KCNE3):c.2T>C (p.Met1Thr)
|
rs765329541
|
0.00004
|
NM_005477.3(HCN4):c.2196C>T (p.Gly732=)
|
rs780923169
|
0.00004
|
NM_005477.3(HCN4):c.2197G>A (p.Val733Ile)
|
rs376631391
|
0.00004
|
NM_005477.3(HCN4):c.2266G>A (p.Ala756Thr)
|
rs143339036
|
0.00004
|
NM_005477.3(HCN4):c.2383C>T (p.Leu795Phe)
|
rs1435000428
|
0.00004
|
NM_005477.3(HCN4):c.2398C>T (p.Arg800Cys)
|
rs181894662
|
0.00004
|
NM_005477.3(HCN4):c.2845C>T (p.Arg949Trp)
|
rs755614529
|
0.00004
|
NM_005477.3(HCN4):c.2938G>A (p.Gly980Arg)
|
rs780719805
|
0.00004
|
NM_005477.3(HCN4):c.2995C>T (p.Arg999Trp)
|
rs538668505
|
0.00004
|
NM_005477.3(HCN4):c.3202C>T (p.Arg1068Cys)
|
rs759356193
|
0.00004
|
NM_005477.3(HCN4):c.3209G>A (p.Gly1070Asp)
|
rs772839442
|
0.00004
|
NM_005477.3(HCN4):c.3263C>T (p.Ala1088Val)
|
rs758484576
|
0.00004
|
NM_005477.3(HCN4):c.3409C>T (p.Pro1137Ser)
|
rs773914774
|
0.00004
|
NM_005477.3(HCN4):c.3414del (p.Arg1140fs)
|
rs746402732
|
0.00004
|
NM_005477.3(HCN4):c.3596T>A (p.Leu1199Gln)
|
rs146751122
|
0.00004
|
NM_005477.3(HCN4):c.394A>C (p.Ile132Leu)
|
rs772764704
|
0.00004
|
NM_005477.3(HCN4):c.497C>T (p.Pro166Leu)
|
rs771442346
|
0.00004
|
NM_005502.4(ABCA1):c.4249C>T (p.Arg1417Cys)
|
rs749089795
|
0.00004
|
NM_005633.4(SOS1):c.1490G>A (p.Arg497Gln)
|
rs371314838
|
0.00004
|
NM_005633.4(SOS1):c.1720G>A (p.Val574Ile)
|
rs727504641
|
0.00004
|
NM_005633.4(SOS1):c.1859-3T>C
|
rs199727062
|
0.00004
|
NM_005633.4(SOS1):c.2953T>G (p.Ser985Ala)
|
rs754676663
|
0.00004
|
NM_005633.4(SOS1):c.3392G>A (p.Arg1131Lys)
|
rs768113420
|
0.00004
|
NM_005633.4(SOS1):c.3737A>G (p.Asn1246Ser)
|
rs374110460
|
0.00004
|
NM_005633.4(SOS1):c.382G>A (p.Val128Ile)
|
rs752402979
|
0.00004
|
NM_005633.4(SOS1):c.3857C>T (p.Ser1286Phe)
|
rs374341202
|
0.00004
|
NM_005633.4(SOS1):c.3859A>G (p.Ile1287Val)
|
rs760917490
|
0.00004
|
NM_005751.5(AKAP9):c.10027G>A (p.Asp3343Asn)
|
rs757454990
|
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.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.1538A>G (p.Lys513Arg)
|
rs786205713
|
0.00004
|
NM_005751.5(AKAP9):c.2113T>G (p.Leu705Val)
|
rs750905383
|
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.4136C>T (p.Thr1379Met)
|
rs767728528
|
0.00004
|
NM_005751.5(AKAP9):c.4195A>G (p.Thr1399Ala)
|
rs757261572
|
0.00004
|
NM_005751.5(AKAP9):c.4282A>G (p.Ile1428Val)
|
rs368183690
|
0.00004
|
NM_005751.5(AKAP9):c.5684G>A (p.Cys1895Tyr)
|
rs376670169
|
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.7675A>C (p.Ile2559Leu)
|
rs757278868
|
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.9446A>G (p.Glu3149Gly)
|
rs150579291
|
0.00004
|
NM_005751.5(AKAP9):c.9664T>G (p.Trp3222Gly)
|
rs765533928
|
0.00004
|
NM_005911.6(MAT2A):c.1027A>G (p.Arg343Gly)
|
rs750105786
|
0.00004
|
NM_005911.6(MAT2A):c.988A>G (p.Ile330Val)
|
rs753175779
|
0.00004
|
NM_006073.4(TRDN):c.1156C>A (p.Pro386Thr)
|
rs555383967
|
0.00004
|
NM_006073.4(TRDN):c.1568-4T>A
|
rs764779610
|
0.00004
|
NM_006073.4(TRDN):c.1589C>G (p.Ala530Gly)
|
rs367716594
|
0.00004
|
NM_006073.4(TRDN):c.1967G>A (p.Arg656Lys)
|
rs1028703114
|
0.00004
|
NM_006073.4(TRDN):c.2131C>T (p.Arg711Cys)
|
rs373408498
|
0.00004
|
NM_006073.4(TRDN):c.2132G>A (p.Arg711His)
|
rs763375903
|
0.00004
|
NM_006073.4(TRDN):c.2135C>T (p.Pro712Leu)
|
rs761888858
|
0.00004
|
NM_006073.4(TRDN):c.2138G>A (p.Gly713Glu)
|
rs536487170
|
0.00004
|
NM_006073.4(TRDN):c.2179C>T (p.Gln727Ter)
|
rs201041981
|
0.00004
|
NM_006073.4(TRDN):c.352G>T (p.Asp118Tyr)
|
rs762075230
|
0.00004
|
NM_006073.4(TRDN):c.376G>A (p.Glu126Lys)
|
rs539743603
|
0.00004
|
NM_006440.5(TXNRD2):c.1001C>T (p.Thr334Ile)
|
rs780014083
|
0.00004
|
NM_006440.5(TXNRD2):c.1054C>A (p.Pro352Thr)
|
rs1388529732
|
0.00004
|
NM_006440.5(TXNRD2):c.1376T>C (p.Leu459Pro)
|
rs776104767
|
0.00004
|
NM_006440.5(TXNRD2):c.139G>A (p.Gly47Arg)
|
rs759298418
|
0.00004
|
NM_006440.5(TXNRD2):c.1406A>G (p.Asn469Ser)
|
rs757704344
|
0.00004
|
NM_006440.5(TXNRD2):c.1436T>C (p.Leu479Pro)
|
rs756559860
|
0.00004
|
NM_006440.5(TXNRD2):c.1514T>A (p.Val505Asp)
|
rs759613137
|
0.00004
|
NM_006440.5(TXNRD2):c.40C>T (p.Arg14Cys)
|
rs1259706318
|
0.00004
|
NM_006440.5(TXNRD2):c.449+4C>T
|
rs755751835
|
0.00004
|
NM_006440.5(TXNRD2):c.461A>T (p.Tyr154Phe)
|
rs886509891
|
0.00004
|
NM_006440.5(TXNRD2):c.581A>G (p.Tyr194Cys)
|
rs1219814151
|
0.00004
|
NM_006440.5(TXNRD2):c.595G>A (p.Glu199Lys)
|
rs763888077
|
0.00004
|
NM_006514.4(SCN10A):c.1051C>T (p.Arg351Cys)
|
rs370603046
|
0.00004
|
NM_006514.4(SCN10A):c.1093-3C>A
|
rs373289770
|
0.00004
|
NM_006514.4(SCN10A):c.1747G>A (p.Asp583Asn)
|
rs910976049
|
0.00004
|
NM_006514.4(SCN10A):c.2156T>C (p.Phe719Ser)
|
rs758843257
|
0.00004
|
NM_006514.4(SCN10A):c.2414G>T (p.Gly805Val)
|
rs779733116
|
0.00004
|
NM_006514.4(SCN10A):c.2427del (p.Glu811fs)
|
rs751810656
|
0.00004
|
NM_006514.4(SCN10A):c.2530C>T (p.Arg844Cys)
|
rs140158387
|
0.00004
|
NM_006514.4(SCN10A):c.3178T>G (p.Ser1060Ala)
|
rs750655728
|
0.00004
|
NM_006514.4(SCN10A):c.4069T>A (p.Tyr1357Asn)
|
rs199703203
|
0.00004
|
NM_006514.4(SCN10A):c.4444A>G (p.Ile1482Val)
|
rs771215180
|
0.00004
|
NM_006514.4(SCN10A):c.4585G>A (p.Ala1529Thr)
|
rs757916036
|
0.00004
|
NM_006514.4(SCN10A):c.4726C>T (p.Arg1576Cys)
|
rs764476034
|
0.00004
|
NM_006514.4(SCN10A):c.4780C>T (p.Arg1594Cys)
|
rs373347787
|
0.00004
|
NM_006514.4(SCN10A):c.5294C>T (p.Ser1765Leu)
|
rs369137515
|
0.00004
|
NM_006514.4(SCN10A):c.5539C>T (p.Arg1847Ter)
|
rs199503439
|
0.00004
|
NM_006514.4(SCN10A):c.626G>A (p.Arg209His)
|
rs779184623
|
0.00004
|
NM_006514.4(SCN10A):c.688C>G (p.Pro230Ala)
|
rs147844607
|
0.00004
|
NM_006912.6(RIT1):c.341T>A (p.Phe114Tyr)
|
rs745807905
|
0.00004
|
NM_006912.6(RIT1):c.635G>A (p.Arg212Gln)
|
rs764347644
|
0.00004
|
NM_006939.4(SOS2):c.1976T>C (p.Leu659Ser)
|
rs1391029692
|
0.00004
|
NM_006939.4(SOS2):c.257C>T (p.Ala86Val)
|
rs146272145
|
0.00004
|
NM_006939.4(SOS2):c.2969A>G (p.Glu990Gly)
|
rs761320331
|
0.00004
|
NM_006939.4(SOS2):c.3076C>T (p.Pro1026Ser)
|
rs201874067
|
0.00004
|
NM_006939.4(SOS2):c.3335G>A (p.Cys1112Tyr)
|
rs756103351
|
0.00004
|
NM_006939.4(SOS2):c.3520G>A (p.Ala1174Thr)
|
rs935249167
|
0.00004
|
NM_006939.4(SOS2):c.3902A>G (p.His1301Arg)
|
rs759124324
|
0.00004
|
NM_006939.4(SOS2):c.532C>G (p.Gln178Glu)
|
rs770603835
|
0.00004
|
NM_007078.3(LDB3):c.1225C>A (p.Gln409Lys)
|
rs139104492
|
0.00004
|
NM_007078.3(LDB3):c.1667A>G (p.Asn556Ser)
|
rs372583830
|
0.00004
|
NM_007078.3(LDB3):c.1972G>A (p.Glu658Lys)
|
rs760563152
|
0.00004
|
NM_007078.3(LDB3):c.2174T>A (p.Ile725Asn)
|
rs748399477
|
0.00004
|
NM_007078.3(LDB3):c.451G>A (p.Ala151Thr)
|
rs780578350
|
0.00004
|
NM_007078.3(LDB3):c.764A>G (p.Lys255Arg)
|
rs199739130
|
0.00004
|
NM_007078.3(LDB3):c.784G>A (p.Glu262Lys)
|
rs374168618
|
0.00004
|
NM_007078.3(LDB3):c.944C>T (p.Pro315Leu)
|
rs371649487
|
0.00004
|
NM_007373.4(SHOC2):c.1318C>A (p.Leu440Ile)
|
rs759910472
|
0.00004
|
NM_012186.3(FOXE3):c.287C>G (p.Ala96Gly)
|
rs768651099
|
0.00004
|
NM_012186.3(FOXE3):c.334C>T (p.Pro112Ser)
|
rs745571457
|
0.00004
|
NM_012186.3(FOXE3):c.404A>G (p.Glu135Gly)
|
rs372281087
|
0.00004
|
NM_012186.3(FOXE3):c.61G>A (p.Ala21Thr)
|
rs886379083
|
0.00004
|
NM_012186.3(FOXE3):c.703C>T (p.Pro235Ser)
|
rs112802909
|
0.00004
|
NM_012186.3(FOXE3):c.736G>A (p.Ala246Thr)
|
rs921860618
|
0.00004
|
NM_014000.3(VCL):c.1176+4G>C
|
rs1286302808
|
0.00004
|
NM_014000.3(VCL):c.1192C>T (p.Pro398Ser)
|
rs201528612
|
0.00004
|
NM_014000.3(VCL):c.1390A>G (p.Lys464Glu)
|
rs200710859
|
0.00004
|
NM_014000.3(VCL):c.1505G>A (p.Arg502Gln)
|
rs201808867
|
0.00004
|
NM_014000.3(VCL):c.1511T>C (p.Ile504Thr)
|
rs745343813
|
0.00004
|
NM_014000.3(VCL):c.1534C>T (p.Arg512Cys)
|
rs781079975
|
0.00004
|
NM_014000.3(VCL):c.185T>C (p.Val62Ala)
|
rs769799445
|
0.00004
|
NM_014000.3(VCL):c.1928C>T (p.Thr643Met)
|
rs150643310
|
0.00004
|
NM_014000.3(VCL):c.2046A>T (p.Leu682Phe)
|
rs565398652
|
0.00004
|
NM_014000.3(VCL):c.2399A>T (p.Asp800Val)
|
rs919509789
|
0.00004
|
NM_014000.3(VCL):c.2887A>G (p.Asn963Asp)
|
rs777702397
|
0.00004
|
NM_014000.3(VCL):c.32G>A (p.Ser11Asn)
|
rs777811020
|
0.00004
|
NM_014000.3(VCL):c.3373C>T (p.Arg1125Cys)
|
rs373317423
|
0.00004
|
NM_014000.3(VCL):c.788C>G (p.Thr263Ser)
|
rs150443513
|
0.00004
|
NM_014391.3(ANKRD1):c.364C>G (p.Pro122Ala)
|
rs756392442
|
0.00004
|
NM_014391.3(ANKRD1):c.821A>G (p.Tyr274Cys)
|
rs374486076
|
0.00004
|
NM_014391.3(ANKRD1):c.881A>G (p.His294Arg)
|
rs754657888
|
0.00004
|
NM_014908.4(DOLK):c.1165C>T (p.Arg389Trp)
|
rs758129067
|
0.00004
|
NM_014908.4(DOLK):c.1283A>C (p.Gln428Pro)
|
rs189623590
|
0.00004
|
NM_014908.4(DOLK):c.1568T>C (p.Ile523Thr)
|
rs774524497
|
0.00004
|
NM_015627.3(LDLRAP1):c.113C>T (p.Thr38Met)
|
rs142139501
|
0.00004
|
NM_015627.3(LDLRAP1):c.452G>A (p.Arg151Gln)
|
rs764804901
|
0.00004
|
NM_016203.4(PRKAG2):c.1703C>T (p.Thr568Met)
|
rs540525001
|
0.00004
|
NM_016203.4(PRKAG2):c.488C>T (p.Pro163Leu)
|
rs876657963
|
0.00004
|
NM_016203.4(PRKAG2):c.581C>T (p.Ser194Leu)
|
rs145669999
|
0.00004
|
NM_016203.4(PRKAG2):c.590C>T (p.Pro197Leu)
|
rs368637364
|
0.00004
|
NM_016599.5(MYOZ2):c.403C>A (p.Pro135Thr)
|
rs144720577
|
0.00004
|
NM_016599.5(MYOZ2):c.674C>T (p.Pro225Leu)
|
rs200428820
|
0.00004
|
NM_016938.5(EFEMP2):c.1279C>T (p.Arg427Trp)
|
rs1056545955
|
0.00004
|
NM_016938.5(EFEMP2):c.280G>A (p.Glu94Lys)
|
rs370848091
|
0.00004
|
NM_017636.4(TRPM4):c.1150+1G>A
|
rs200132598
|
0.00004
|
NM_017636.4(TRPM4):c.1263+1G>A
|
rs1321828986
|
0.00004
|
NM_017636.4(TRPM4):c.1308C>A (p.Asp436Glu)
|
rs200262546
|
0.00004
|
NM_017636.4(TRPM4):c.1603G>A (p.Glu535Lys)
|
rs748187859
|
0.00004
|
NM_017636.4(TRPM4):c.1775C>T (p.Ala592Val)
|
rs777586166
|
0.00004
|
NM_017636.4(TRPM4):c.2086G>A (p.Ala696Thr)
|
rs371404627
|
0.00004
|
NM_017636.4(TRPM4):c.3184C>G (p.Arg1062Gly)
|
rs375523320
|
0.00004
|
NM_017636.4(TRPM4):c.323G>A (p.Arg108His)
|
rs371414435
|
0.00004
|
NM_017636.4(TRPM4):c.3367A>C (p.Thr1123Pro)
|
rs144912849
|
0.00004
|
NM_017636.4(TRPM4):c.491G>A (p.Arg164Gln)
|
rs774677078
|
0.00004
|
NM_017636.4(TRPM4):c.721G>A (p.Gly241Ser)
|
rs886054577
|
0.00004
|
NM_017636.4(TRPM4):c.965G>A (p.Gly322Glu)
|
rs865856899
|
0.00004
|
NM_018699.4(PRDM5):c.1043A>G (p.Tyr348Cys)
|
rs750825490
|
0.00004
|
NM_018699.4(PRDM5):c.154A>G (p.Met52Val)
|
rs766857802
|
0.00004
|
NM_020297.4(ABCC9):c.1849G>A (p.Asp617Asn)
|
rs757681761
|
0.00004
|
NM_020297.4(ABCC9):c.2500T>C (p.Phe834Leu)
|
rs367776754
|
0.00004
|
NM_020297.4(ABCC9):c.256G>C (p.Glu86Gln)
|
rs774026262
|
0.00004
|
NM_020297.4(ABCC9):c.287G>A (p.Arg96Gln)
|
rs202103893
|
0.00004
|
NM_020297.4(ABCC9):c.3061G>A (p.Glu1021Lys)
|
rs749668601
|
0.00004
|
NM_020297.4(ABCC9):c.3589C>T (p.Arg1197Cys)
|
rs778849288
|
0.00004
|
NM_020297.4(ABCC9):c.4205C>G (p.Ser1402Cys)
|
rs369587958
|
0.00004
|
NM_020297.4(ABCC9):c.970C>T (p.Arg324Cys)
|
rs779720018
|
0.00004
|
NM_020433.5(JPH2):c.1149G>T (p.Lys383Asn)
|
rs754243118
|
0.00004
|
NM_020433.5(JPH2):c.1202C>T (p.Ala401Val)
|
rs774001072
|
0.00004
|
NM_020433.5(JPH2):c.1282C>T (p.Gln428Ter)
|
rs199896820
|
0.00004
|
NM_020433.5(JPH2):c.1658C>T (p.Ala553Val)
|
rs200422043
|
0.00004
|
NM_020433.5(JPH2):c.2062G>A (p.Ala688Thr)
|
rs540933939
|
0.00004
|
NM_020433.5(JPH2):c.299C>T (p.Ser100Leu)
|
rs145401873
|
0.00004
|
NM_020778.4(ALPK3):c.302G>A (p.Gly101Glu)
|
rs774834870
|
0.00004
|
NM_020778.5(ALPK3):c.1000A>G (p.Lys334Glu)
|
rs1273788350
|
0.00004
|
NM_020778.5(ALPK3):c.1304A>G (p.Gln435Arg)
|
rs754238381
|
0.00004
|
NM_020778.5(ALPK3):c.1393C>A (p.Gln465Lys)
|
rs771343949
|
0.00004
|
NM_020778.5(ALPK3):c.1588C>T (p.Arg530Trp)
|
rs748152747
|
0.00004
|
NM_020778.5(ALPK3):c.1591C>T (p.Arg531Trp)
|
rs747180813
|
0.00004
|
NM_020778.5(ALPK3):c.2444G>A (p.Gly815Glu)
|
rs199907297
|
0.00004
|
NM_020778.5(ALPK3):c.245C>T (p.Thr82Met)
|
rs369383271
|
0.00004
|
NM_020778.5(ALPK3):c.2642C>T (p.Ala881Val)
|
rs375943296
|
0.00004
|
NM_020778.5(ALPK3):c.2849G>A (p.Arg950Gln)
|
rs772259344
|
0.00004
|
NM_020778.5(ALPK3):c.3032C>T (p.Ser1011Leu)
|
rs374420068
|
0.00004
|
NM_020778.5(ALPK3):c.3116G>A (p.Arg1039His)
|
rs375717780
|
0.00004
|
NM_020778.5(ALPK3):c.322G>A (p.Val108Met)
|
rs151295172
|
0.00004
|
NM_020778.5(ALPK3):c.344C>T (p.Thr115Met)
|
rs140571556
|
0.00004
|
NM_020778.5(ALPK3):c.3632A>G (p.Glu1211Gly)
|
rs565962039
|
0.00004
|
NM_020778.5(ALPK3):c.3701C>T (p.Ala1234Val)
|
rs1009090950
|
0.00004
|
NM_020778.5(ALPK3):c.3892T>C (p.Phe1298Leu)
|
rs200756406
|
0.00004
|
NM_020778.5(ALPK3):c.3899A>G (p.Asn1300Ser)
|
rs115510864
|
0.00004
|
NM_020778.5(ALPK3):c.3952G>A (p.Glu1318Lys)
|
rs142686791
|
0.00004
|
NM_020778.5(ALPK3):c.3983C>T (p.Pro1328Leu)
|
rs371508067
|
0.00004
|
NM_020778.5(ALPK3):c.4040C>T (p.Thr1347Ile)
|
rs772261260
|
0.00004
|
NM_020778.5(ALPK3):c.4061C>T (p.Ser1354Leu)
|
rs377340628
|
0.00004
|
NM_020778.5(ALPK3):c.4092G>C (p.Glu1364Asp)
|
rs778715401
|
0.00004
|
NM_020778.5(ALPK3):c.40G>T (p.Gly14Cys)
|
rs1053607919
|
0.00004
|
NM_020778.5(ALPK3):c.4200C>G (p.Asp1400Glu)
|
rs372818428
|
0.00004
|
NM_020778.5(ALPK3):c.4319G>A (p.Arg1440His)
|
rs182140062
|
0.00004
|
NM_020778.5(ALPK3):c.4489G>A (p.Glu1497Lys)
|
rs201240006
|
0.00004
|
NM_020778.5(ALPK3):c.4499+2dup
|
rs753084997
|
0.00004
|
NM_020778.5(ALPK3):c.4913A>G (p.Lys1638Arg)
|
rs749212010
|
0.00004
|
NM_020778.5(ALPK3):c.595A>G (p.Ser199Gly)
|
rs780267653
|
0.00004
|
NM_020778.5(ALPK3):c.655G>A (p.Asp219Asn)
|
rs148244525
|
0.00004
|
NM_021167.5(GATAD1):c.646A>T (p.Met216Leu)
|
rs778197140
|
0.00004
|
NM_022436.3(ABCG5):c.39G>T (p.Met13Ile)
|
rs572875739
|
0.00004
|
NM_022436.3(ABCG5):c.658A>G (p.Thr220Ala)
|
rs781732933
|
0.00004
|
NM_022437.3(ABCG8):c.1106A>T (p.Asp369Val)
|
rs148185316
|
0.00004
|
NM_022437.3(ABCG8):c.786C>A (p.Asn262Lys)
|
rs199737442
|
0.00004
|
NM_022773.4(LMF1):c.820G>A (p.Glu274Lys)
|
rs531415593
|
0.00004
|
NM_024301.5(FKRP):c.1376C>T (p.Ala459Val)
|
rs749109905
|
0.00004
|
NM_024301.5(FKRP):c.328C>T (p.Arg110Trp)
|
rs758759348
|
0.00004
|
NM_024301.5(FKRP):c.569G>A (p.Arg190His)
|
rs917645867
|
0.00004
|
NM_024334.3(TMEM43):c.231C>G (p.Ile77Met)
|
rs899266809
|
0.00004
|
NM_024334.3(TMEM43):c.447dup (p.Glu150Ter)
|
rs1423539317
|
0.00004
|
NM_024334.3(TMEM43):c.487C>T (p.Arg163Ter)
|
rs147336367
|
0.00004
|
NM_024334.3(TMEM43):c.742C>A (p.Leu248Met)
|
rs780389237
|
0.00004
|
NM_024422.6(DSC2):c.1034T>C (p.Ile345Thr)
|
rs777688726
|
0.00004
|
NM_024422.6(DSC2):c.2366G>A (p.Gly789Glu)
|
rs766828422
|
0.00004
|
NM_024422.6(DSC2):c.239A>G (p.Tyr80Cys)
|
rs369761766
|
0.00004
|
NM_024422.6(DSC2):c.2576A>G (p.Tyr859Cys)
|
rs758950880
|
0.00004
|
NM_024422.6(DSC2):c.286A>G (p.Ile96Val)
|
rs772447450
|
0.00004
|
NM_024422.6(DSC2):c.490G>A (p.Ala164Thr)
|
rs978623916
|
0.00004
|
NM_030662.4(MAP2K2):c.274A>G (p.Arg92Gly)
|
rs759061964
|
0.00004
|
NM_030662.4(MAP2K2):c.841C>T (p.Arg281Trp)
|
rs759998177
|
0.00004
|
NM_030662.4(MAP2K2):c.938G>A (p.Arg313Gln)
|
rs151133017
|
0.00004
|
NM_032578.4(MYPN):c.1518T>G (p.Phe506Leu)
|
rs780297988
|
0.00004
|
NM_032578.4(MYPN):c.1789C>T (p.Arg597Cys)
|
rs367570424
|
0.00004
|
NM_032578.4(MYPN):c.1936G>A (p.Val646Met)
|
rs772535532
|
0.00004
|
NM_032578.4(MYPN):c.2105C>T (p.Ala702Val)
|
rs144822514
|
0.00004
|
NM_032578.4(MYPN):c.3272G>A (p.Arg1091Gln)
|
rs768452699
|
0.00004
|
NM_032578.4(MYPN):c.3305C>T (p.Pro1102Leu)
|
rs201693405
|
0.00004
|
NM_032578.4(MYPN):c.3416G>A (p.Arg1139His)
|
rs531222847
|
0.00004
|
NM_130468.4(CHST14):c.400C>T (p.Arg134Trp)
|
rs368203130
|
0.00004
|
NM_130468.4(CHST14):c.869C>T (p.Ala290Val)
|
rs763074027
|
0.00004
|
NM_130468.4(CHST14):c.933G>C (p.Glu311Asp)
|
rs927457735
|
0.00004
|
NM_144573.4(NEXN):c.1010T>C (p.Ile337Thr)
|
rs749553777
|
0.00004
|
NM_144573.4(NEXN):c.1174C>T (p.Arg392Ter)
|
rs750076188
|
0.00004
|
NM_144573.4(NEXN):c.1471G>C (p.Glu491Gln)
|
rs373057251
|
0.00004
|
NM_144573.4(NEXN):c.1529A>G (p.Lys510Arg)
|
rs759726867
|
0.00004
|
NM_144573.4(NEXN):c.1595T>C (p.Ile532Thr)
|
rs754656961
|
0.00004
|
NM_144573.4(NEXN):c.175G>A (p.Glu59Lys)
|
rs761888910
|
0.00004
|
NM_144573.4(NEXN):c.1892T>C (p.Ile631Thr)
|
rs775292649
|
0.00004
|
NM_144573.4(NEXN):c.370G>A (p.Glu124Lys)
|
rs372745590
|
0.00004
|
NM_144573.4(NEXN):c.818G>A (p.Arg273His)
|
rs765385072
|
0.00004
|
NM_144573.4(NEXN):c.836G>A (p.Arg279His)
|
rs750349053
|
0.00004
|
NM_144573.4(NEXN):c.967G>A (p.Glu323Lys)
|
rs1196365963
|
0.00004
|
NM_152594.3(SPRED1):c.634G>A (p.Val212Ile)
|
rs769630742
|
0.00004
|
NM_170707.4(LMNA):c.1189C>T (p.Arg397Cys)
|
rs374726751
|
0.00004
|
NM_170707.4(LMNA):c.1196G>A (p.Arg399His)
|
rs267607563
|
0.00004
|
NM_170707.4(LMNA):c.1376A>G (p.Asn459Ser)
|
rs372011095
|
0.00004
|
NM_170707.4(LMNA):c.1556C>T (p.Thr519Ile)
|
rs753988867
|
0.00004
|
NM_170707.4(LMNA):c.1580G>A (p.Arg527His)
|
rs57520892
|
0.00004
|
NM_170707.4(LMNA):c.1931G>A (p.Arg644His)
|
rs368386019
|
0.00004
|
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg)
|
rs397517901
|
0.00004
|
NM_170707.4(LMNA):c.467G>A (p.Arg156His)
|
rs764475194
|
0.00004
|
NM_170707.4(LMNA):c.692A>G (p.Asn231Ser)
|
rs760388350
|
0.00004
|
NM_170707.4(LMNA):c.848A>G (p.Asn283Ser)
|
rs765241364
|
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.347T>C (p.Ile116Thr)
|
rs769406938
|
0.00004
|
NM_174934.4(SCN4B):c.463+3A>T
|
rs751139039
|
0.00004
|
NM_174936.4(PCSK9):c.1287C>A (p.Phe429Leu)
|
rs111427099
|
0.00004
|
NM_174936.4(PCSK9):c.1399C>G (p.Pro467Ala)
|
rs772677312
|
0.00004
|
NM_174936.4(PCSK9):c.2002A>G (p.Ser668Gly)
|
rs775077080
|
0.00004
|
NM_174936.4(PCSK9):c.2044C>T (p.Arg682Trp)
|
rs753308448
|
0.00004
|
NM_174936.4(PCSK9):c.2050C>G (p.Leu684Val)
|
rs201557607
|
0.00004
|
NM_174936.4(PCSK9):c.286C>T (p.Arg96Cys)
|
rs185392267
|
0.00004
|
NM_174936.4(PCSK9):c.742C>T (p.Arg248Cys)
|
rs779824389
|
0.00004
|
NM_174936.4(PCSK9):c.829G>C (p.Val277Leu)
|
rs562011178
|
0.00004
|
NM_181486.4(TBX5):c.1477G>A (p.Val493Met)
|
rs556197042
|
0.00004
|
NM_201596.3(CACNB2):c.1433G>A (p.Arg478His)
|
rs781646326
|
0.00004
|
NM_201596.3(CACNB2):c.1517G>A (p.Arg506His)
|
rs532262049
|
0.00004
|
NM_201596.3(CACNB2):c.1532G>A (p.Arg511His)
|
rs1039406883
|
0.00004
|
NM_201596.3(CACNB2):c.1642G>A (p.Gly548Ser)
|
rs730880059
|
0.00004
|
NM_201596.3(CACNB2):c.1687C>G (p.Arg563Gly)
|
rs760811952
|
0.00004
|
NM_201596.3(CACNB2):c.1736T>G (p.Val579Gly)
|
rs370475450
|
0.00004
|
NM_201596.3(CACNB2):c.1739A>G (p.Asp580Gly)
|
rs762715765
|
0.00004
|
NM_201596.3(CACNB2):c.1814C>G (p.Ser605Cys)
|
rs548428286
|
0.00004
|
NM_201596.3(CACNB2):c.1898G>A (p.Arg633His)
|
rs780045364
|
0.00004
|
NM_201596.3(CACNB2):c.718C>G (p.Pro240Ala)
|
rs750627674
|
0.00004
|
NM_000020.3(ACVRL1):c.518T>C (p.Met173Thr)
|
rs754813319
|
0.00003
|
NM_000039.3(APOA1):c.28G>A (p.Val10Met)
|
rs750125257
|
0.00003
|
NM_000071.3(CBS):c.1009A>G (p.Met337Val)
|
rs372822486
|
0.00003
|
NM_000088.4(COL1A1):c.3000G>C (p.Met1000Ile)
|
rs769158560
|
0.00003
|
NM_000088.4(COL1A1):c.3769C>T (p.Arg1257Cys)
|
rs368295399
|
0.00003
|
NM_000088.4(COL1A1):c.4321G>A (p.Asp1441Asn)
|
rs72656351
|
0.00003
|
NM_000089.4(COL1A2):c.1536T>G (p.His512Gln)
|
rs200231086
|
0.00003
|
NM_000089.4(COL1A2):c.3014G>A (p.Arg1005His)
|
rs200357942
|
0.00003
|
NM_000089.4(COL1A2):c.700C>T (p.Arg234Cys)
|
rs1206388800
|
0.00003
|
NM_000116.5(TAFAZZIN):c.27C>G (p.Phe9Leu)
|
rs1223065368
|
0.00003
|
NM_000116.5(TAFAZZIN):c.674C>T (p.Pro225Leu)
|
rs375151766
|
0.00003
|
NM_000117.3(EMD):c.110A>T (p.Lys37Met)
|
rs1085307681
|
0.00003
|
NM_000117.3(EMD):c.173C>T (p.Ser58Phe)
|
rs781797234
|
0.00003
|
NM_000117.3(EMD):c.449+5G>A
|
rs370840449
|
0.00003
|
NM_000117.3(EMD):c.502C>T (p.Arg168Cys)
|
rs886044839
|
0.00003
|
NM_000117.3(EMD):c.677G>C (p.Trp226Ser)
|
rs141732118
|
0.00003
|
NM_000152.5(GAA):c.1849G>A (p.Val617Met)
|
rs767977395
|
0.00003
|
NM_000152.5(GAA):c.2365C>G (p.Pro789Ala)
|
rs201485261
|
0.00003
|
NM_000152.5(GAA):c.2455C>T (p.Arg819Trp)
|
rs61736895
|
0.00003
|
NM_000169.3(GLA):c.1067G>A (p.Arg356Gln)
|
rs869312163
|
0.00003
|
NM_000169.3(GLA):c.419A>C (p.Lys140Thr)
|
rs150228150
|
0.00003
|
NM_000169.3(GLA):c.566T>G (p.Leu189Trp)
|
rs1555985577
|
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.1514+3G>A
|
rs374767819
|
0.00003
|
NM_000218.3(KCNQ1):c.1555C>T (p.Arg519Cys)
|
rs199472787
|
0.00003
|
NM_000218.3(KCNQ1):c.1936G>A (p.Gly646Ser)
|
rs763478809
|
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.683+3G>A
|
rs1025802726
|
0.00003
|
NM_000219.6(KCNE1):c.137A>G (p.Tyr46Cys)
|
rs1402178514
|
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_000237.3(LPL):c.112G>A (p.Glu38Lys)
|
rs557015233
|
0.00003
|
NM_000238.4(KCNH2):c.1067G>A (p.Arg356His)
|
rs730880118
|
0.00003
|
NM_000238.4(KCNH2):c.1888G>A (p.Val630Ile)
|
rs199472958
|
0.00003
|
NM_000238.4(KCNH2):c.2144C>T (p.Ala715Val)
|
rs780656919
|
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.2902C>G (p.Pro968Ala)
|
rs753788508
|
0.00003
|
NM_000238.4(KCNH2):c.3072C>T (p.Asn1024=)
|
rs781274793
|
0.00003
|
NM_000238.4(KCNH2):c.3224C>T (p.Pro1075Leu)
|
rs199473028
|
0.00003
|
NM_000238.4(KCNH2):c.3247A>G (p.Thr1083Ala)
|
rs751559990
|
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.383A>G (p.Asn128Ser)
|
rs200343670
|
0.00003
|
NM_000238.4(KCNH2):c.694C>T (p.Arg232Cys)
|
rs956828658
|
0.00003
|
NM_000256.3(MYBPC3):c.1021G>A (p.Gly341Ser)
|
rs397515881
|
0.00003
|
NM_000256.3(MYBPC3):c.103C>T (p.Arg35Trp)
|
rs727504249
|
0.00003
|
NM_000256.3(MYBPC3):c.1072G>A (p.Asp358Asn)
|
rs746267533
|
0.00003
|
NM_000256.3(MYBPC3):c.1243A>C (p.Ile415Leu)
|
rs1269517446
|
0.00003
|
NM_000256.3(MYBPC3):c.1601C>T (p.Ala534Val)
|
rs374349666
|
0.00003
|
NM_000256.3(MYBPC3):c.1816G>A (p.Val606Ile)
|
rs368482358
|
0.00003
|
NM_000256.3(MYBPC3):c.1828G>C (p.Asp610His)
|
rs371564200
|
0.00003
|
NM_000256.3(MYBPC3):c.2063C>A (p.Thr688Lys)
|
rs3729946
|
0.00003
|
NM_000256.3(MYBPC3):c.2125G>A (p.Asp709Asn)
|
rs886039029
|
0.00003
|
NM_000256.3(MYBPC3):c.2161A>T (p.Thr721Ser)
|
rs768993308
|
0.00003
|
NM_000256.3(MYBPC3):c.2198G>A (p.Arg733His)
|
rs534345197
|
0.00003
|
NM_000256.3(MYBPC3):c.2249C>T (p.Thr750Met)
|
rs727503189
|
0.00003
|
NM_000256.3(MYBPC3):c.2562G>A (p.Met854Ile)
|
rs730880572
|
0.00003
|
NM_000256.3(MYBPC3):c.2599A>G (p.Ile867Val)
|
rs768339148
|
0.00003
|
NM_000256.3(MYBPC3):c.2624A>T (p.His875Leu)
|
rs774889182
|
0.00003
|
NM_000256.3(MYBPC3):c.263T>A (p.Val88Asp)
|
rs730880583
|
0.00003
|
NM_000256.3(MYBPC3):c.2683C>T (p.Arg895Cys)
|
rs374976635
|
0.00003
|
NM_000256.3(MYBPC3):c.2828G>A (p.Arg943Gln)
|
rs397515986
|
0.00003
|
NM_000256.3(MYBPC3):c.2908C>T (p.Arg970Trp)
|
rs730880138
|
0.00003
|
NM_000256.3(MYBPC3):c.2909G>A (p.Arg970Gln)
|
rs727504346
|
0.00003
|
NM_000256.3(MYBPC3):c.305C>T (p.Pro102Leu)
|
rs730880610
|
0.00003
|
NM_000256.3(MYBPC3):c.3154A>G (p.Met1052Val)
|
rs730880589
|
0.00003
|
NM_000256.3(MYBPC3):c.3229G>T (p.Ala1077Ser)
|
rs397516009
|
0.00003
|
NM_000256.3(MYBPC3):c.3343G>A (p.Val1115Ile)
|
rs531189495
|
0.00003
|
NM_000256.3(MYBPC3):c.3463A>G (p.Lys1155Glu)
|
rs377352427
|
0.00003
|
NM_000256.3(MYBPC3):c.3470C>T (p.Pro1157Leu)
|
rs373304680
|
0.00003
|
NM_000256.3(MYBPC3):c.3472G>A (p.Val1158Ile)
|
rs542350927
|
0.00003
|
NM_000257.4(MYH7):c.1325G>A (p.Arg442His)
|
rs730880870
|
0.00003
|
NM_000257.4(MYH7):c.1625A>G (p.Lys542Arg)
|
rs863224645
|
0.00003
|
NM_000257.4(MYH7):c.2599G>A (p.Glu867Lys)
|
rs558673680
|
0.00003
|
NM_000257.4(MYH7):c.3100-2A>C
|
rs759013925
|
0.00003
|
NM_000257.4(MYH7):c.3134G>A (p.Arg1045His)
|
rs397516178
|
0.00003
|
NM_000257.4(MYH7):c.3779G>A (p.Arg1260Gln)
|
rs747308839
|
0.00003
|
NM_000257.4(MYH7):c.4894G>A (p.Ala1632Thr)
|
rs565663412
|
0.00003
|
NM_000257.4(MYH7):c.5471A>G (p.Asn1824Ser)
|
rs760218400
|
0.00003
|
NM_000257.4(MYH7):c.5689C>T (p.Arg1897Cys)
|
rs756655803
|
0.00003
|
NM_000258.3(MYL3):c.245C>T (p.Ala82Val)
|
rs752549068
|
0.00003
|
NM_000258.3(MYL3):c.91C>T (p.Arg31Cys)
|
rs377026344
|
0.00003
|
NM_000335.5(SCN5A):c.1366G>A (p.Val456Met)
|
rs760016062
|
0.00003
|
NM_000335.5(SCN5A):c.1663G>A (p.Glu555Lys)
|
rs199473123
|
0.00003
|
NM_000335.5(SCN5A):c.1706G>A (p.Arg569Gln)
|
rs769292594
|
0.00003
|
NM_000335.5(SCN5A):c.1880C>T (p.Pro627Leu)
|
rs778522112
|
0.00003
|
NM_000335.5(SCN5A):c.1901C>T (p.Ser634Leu)
|
rs568517614
|
0.00003
|
NM_000335.5(SCN5A):c.25G>A (p.Gly9Ser)
|
rs756805318
|
0.00003
|
NM_000335.5(SCN5A):c.275C>T (p.Thr92Ile)
|
rs765675330
|
0.00003
|
NM_000335.5(SCN5A):c.2924G>A (p.Arg975Gln)
|
rs753149586
|
0.00003
|
NM_000335.5(SCN5A):c.2948G>A (p.Gly983Asp)
|
rs766096031
|
0.00003
|
NM_000335.5(SCN5A):c.3093C>T (p.Gly1031=)
|
rs755980331
|
0.00003
|
NM_000335.5(SCN5A):c.3388-3T>C
|
rs949932623
|
0.00003
|
NM_000335.5(SCN5A):c.3389C>T (p.Thr1130Ile)
|
rs199473197
|
0.00003
|
NM_000335.5(SCN5A):c.3401G>T (p.Ser1134Ile)
|
rs557957405
|
0.00003
|
NM_000335.5(SCN5A):c.3460C>T (p.Pro1154Ser)
|
rs781103369
|
0.00003
|
NM_000335.5(SCN5A):c.3539T>C (p.Val1180Ala)
|
rs376965389
|
0.00003
|
NM_000335.5(SCN5A):c.3914G>A (p.Arg1305His)
|
rs730880207
|
0.00003
|
NM_000335.5(SCN5A):c.4277C>A (p.Ala1426Glu)
|
rs1335890539
|
0.00003
|
NM_000335.5(SCN5A):c.4339A>C (p.Ile1447Leu)
|
rs199473250
|
0.00003
|
NM_000335.5(SCN5A):c.44G>C (p.Arg15Thr)
|
rs373410109
|
0.00003
|
NM_000335.5(SCN5A):c.4532G>A (p.Arg1511Gln)
|
rs368219299
|
0.00003
|
NM_000335.5(SCN5A):c.476A>G (p.Tyr159Cys)
|
rs767116750
|
0.00003
|
NM_000335.5(SCN5A):c.5464G>A (p.Glu1822Lys)
|
rs760837591
|
0.00003
|
NM_000335.5(SCN5A):c.5479G>A (p.Ala1827Thr)
|
rs774593360
|
0.00003
|
NM_000335.5(SCN5A):c.5665G>A (p.Glu1889Lys)
|
rs766875593
|
0.00003
|
NM_000335.5(SCN5A):c.5747T>C (p.Leu1916Pro)
|
rs765713843
|
0.00003
|
NM_000335.5(SCN5A):c.5752C>T (p.Arg1918Cys)
|
rs199473328
|
0.00003
|
NM_000335.5(SCN5A):c.718G>A (p.Val240Met)
|
rs199473076
|
0.00003
|
NM_000363.5(TNNI3):c.304G>A (p.Ala102Thr)
|
rs374618872
|
0.00003
|
NM_000371.4(TTR):c.-15C>T
|
rs746692906
|
0.00003
|
NM_000371.4(TTR):c.370C>T (p.Arg124Cys)
|
rs745834030
|
0.00003
|
NM_000371.4(TTR):c.431A>G (p.Asn144Ser)
|
rs144965179
|
0.00003
|
NM_000384.3(APOB):c.10417G>A (p.Ala3473Thr)
|
rs150790543
|
0.00003
|
NM_000384.3(APOB):c.10541C>T (p.Ala3514Val)
|
rs1450324476
|
0.00003
|
NM_000384.3(APOB):c.12148G>A (p.Glu4050Lys)
|
rs201448956
|
0.00003
|
NM_000384.3(APOB):c.13448C>T (p.Ala4483Val)
|
rs147416761
|
0.00003
|
NM_000384.3(APOB):c.13586A>G (p.His4529Arg)
|
rs958014928
|
0.00003
|
NM_000384.3(APOB):c.218C>A (p.Ala73Asp)
|
rs377171241
|
0.00003
|
NM_000384.3(APOB):c.2675C>T (p.Pro892Leu)
|
rs780537483
|
0.00003
|
NM_000384.3(APOB):c.4954A>C (p.Ile1652Leu)
|
rs776008744
|
0.00003
|
NM_000384.3(APOB):c.5164G>A (p.Asp1722Asn)
|
rs757793421
|
0.00003
|
NM_000384.3(APOB):c.538-3T>C
|
rs771285740
|
0.00003
|
NM_000384.3(APOB):c.571A>G (p.Thr191Ala)
|
rs1318040190
|
0.00003
|
NM_000384.3(APOB):c.598G>A (p.Ala200Thr)
|
rs763878189
|
0.00003
|
NM_000384.3(APOB):c.6659T>C (p.Val2220Ala)
|
rs374736992
|
0.00003
|
NM_000384.3(APOB):c.7585C>A (p.Gln2529Lys)
|
rs747140161
|
0.00003
|
NM_000384.3(APOB):c.7823A>C (p.Gln2608Pro)
|
rs767180578
|
0.00003
|
NM_000384.3(APOB):c.7931G>T (p.Arg2644Met)
|
rs777825152
|
0.00003
|
NM_000384.3(APOB):c.7939A>C (p.Thr2647Pro)
|
rs748143305
|
0.00003
|
NM_000384.3(APOB):c.8258C>G (p.Pro2753Arg)
|
rs765290152
|
0.00003
|
NM_000384.3(APOB):c.8299C>T (p.Pro2767Ser)
|
rs138465008
|
0.00003
|
NM_000384.3(APOB):c.8693T>C (p.Leu2898Pro)
|
rs376974746
|
0.00003
|
NM_000384.3(APOB):c.889C>T (p.Arg297Cys)
|
rs766376456
|
0.00003
|
NM_000384.3(APOB):c.9077A>T (p.Asn3026Ile)
|
rs770981667
|
0.00003
|
NM_000384.3(APOB):c.9550C>T (p.His3184Tyr)
|
rs746911939
|
0.00003
|
NM_000384.3(APOB):c.9574G>T (p.Val3192Leu)
|
rs367631875
|
0.00003
|
NM_000384.3(APOB):c.9641A>G (p.Asn3214Ser)
|
rs763030591
|
0.00003
|
NM_000384.3(APOB):c.9738T>G (p.Phe3246Leu)
|
rs368703055
|
0.00003
|
NM_000432.4(MYL2):c.49G>A (p.Val17Met)
|
rs730880943
|
0.00003
|
NM_000527.5(LDLR):c.2375T>C (p.Ile792Thr)
|
rs764493597
|
0.00003
|
NM_000527.5(LDLR):c.343C>T (p.Arg115Cys)
|
rs774723292
|
0.00003
|
NM_000527.5(LDLR):c.731C>G (p.Ser244Cys)
|
rs1208667598
|
0.00003
|
NM_000719.7(CACNA1C):c.1823C>T (p.Thr608Ile)
|
rs757507674
|
0.00003
|
NM_000719.7(CACNA1C):c.2961-5C>T
|
rs781703710
|
0.00003
|
NM_000719.7(CACNA1C):c.3386C>T (p.Thr1129Met)
|
rs374549078
|
0.00003
|
NM_000719.7(CACNA1C):c.3943A>G (p.Met1315Val)
|
rs756734279
|
0.00003
|
NM_000719.7(CACNA1C):c.50-3C>T
|
rs780161540
|
0.00003
|
NM_000719.7(CACNA1C):c.5098G>A (p.Gly1700Ser)
|
rs761966966
|
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.5731G>C (p.Gly1911Arg)
|
rs374528680
|
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_000722.4(CACNA2D1):c.1076T>C (p.Met359Thr)
|
rs1348576976
|
0.00003
|
NM_000784.4(CYP27A1):c.1556A>G (p.Asn519Ser)
|
rs371510438
|
0.00003
|
NM_000784.4(CYP27A1):c.20C>T (p.Ala7Val)
|
rs1364383591
|
0.00003
|
NM_000784.4(CYP27A1):c.241C>A (p.Leu81Met)
|
rs370498798
|
0.00003
|
NM_000784.4(CYP27A1):c.373C>G (p.Pro125Ala)
|
rs1046723537
|
0.00003
|
NM_000890.5(KCNJ5):c.224G>A (p.Ser75Asn)
|
rs892317617
|
0.00003
|
NM_000890.5(KCNJ5):c.631C>T (p.Arg211Trp)
|
rs143790141
|
0.00003
|
NM_000891.3(KCNJ2):c.1205C>T (p.Thr402Met)
|
rs759070406
|
0.00003
|
NM_000891.3(KCNJ2):c.1259C>T (p.Pro420Leu)
|
rs749707062
|
0.00003
|
NM_001005242.3(PKP2):c.1404T>A (p.Asn468Lys)
|
rs1208347768
|
0.00003
|
NM_001005242.3(PKP2):c.146A>G (p.Gln49Arg)
|
rs763492084
|
0.00003
|
NM_001005242.3(PKP2):c.1519G>A (p.Asp507Asn)
|
rs763427502
|
0.00003
|
NM_001005242.3(PKP2):c.1528A>G (p.Ile510Val)
|
rs397517002
|
0.00003
|
NM_001005242.3(PKP2):c.1679C>T (p.Thr560Met)
|
rs373360192
|
0.00003
|
NM_001005242.3(PKP2):c.1796A>G (p.Lys599Arg)
|
rs533659697
|
0.00003
|
NM_001005242.3(PKP2):c.1945A>G (p.Ser649Gly)
|
rs375295635
|
0.00003
|
NM_001005242.3(PKP2):c.1968A>T (p.Glu656Asp)
|
rs879210282
|
0.00003
|
NM_001005242.3(PKP2):c.2081T>G (p.Leu694Arg)
|
rs794729115
|
0.00003
|
NM_001005242.3(PKP2):c.236G>A (p.Arg79Gln)
|
rs766802880
|
0.00003
|
NM_001005242.3(PKP2):c.2372A>G (p.Lys791Arg)
|
rs372729739
|
0.00003
|
NM_001005242.3(PKP2):c.259G>C (p.Val87Leu)
|
rs750028032
|
0.00003
|
NM_001035.3(RYR2):c.1024G>A (p.Val342Met)
|
rs371898166
|
0.00003
|
NM_001035.3(RYR2):c.10709G>A (p.Arg3570Gln)
|
rs751520590
|
0.00003
|
NM_001035.3(RYR2):c.1092A>C (p.Gln364His)
|
rs763183698
|
0.00003
|
NM_001035.3(RYR2):c.1154G>C (p.Gly385Ala)
|
rs373148638
|
0.00003
|
NM_001035.3(RYR2):c.1172C>G (p.Ala391Gly)
|
rs374306538
|
0.00003
|
NM_001035.3(RYR2):c.12241G>A (p.Glu4081Lys)
|
rs763004638
|
0.00003
|
NM_001035.3(RYR2):c.12658G>A (p.Glu4220Lys)
|
rs753433827
|
0.00003
|
NM_001035.3(RYR2):c.13175A>G (p.Lys4392Arg)
|
rs753733164
|
0.00003
|
NM_001035.3(RYR2):c.1324G>T (p.Ala442Ser)
|
rs747344666
|
0.00003
|
NM_001035.3(RYR2):c.13666G>A (p.Ala4556Thr)
|
rs189345192
|
0.00003
|
NM_001035.3(RYR2):c.14167G>A (p.Ala4723Thr)
|
rs397516514
|
0.00003
|
NM_001035.3(RYR2):c.294+3A>G
|
rs1321804058
|
0.00003
|
NM_001035.3(RYR2):c.2951G>A (p.Ser984Asn)
|
rs730880188
|
0.00003
|
NM_001035.3(RYR2):c.295A>C (p.Lys99Gln)
|
rs1172697175
|
0.00003
|
NM_001035.3(RYR2):c.3361G>C (p.Gly1121Arg)
|
rs199682282
|
0.00003
|
NM_001035.3(RYR2):c.3660T>A (p.Asp1220Glu)
|
rs1019112544
|
0.00003
|
NM_001035.3(RYR2):c.4829G>A (p.Arg1610Gln)
|
rs764687833
|
0.00003
|
NM_001035.3(RYR2):c.5011C>T (p.Arg1671Trp)
|
rs747404408
|
0.00003
|
NM_001035.3(RYR2):c.5021A>G (p.His1674Arg)
|
rs771414167
|
0.00003
|
NM_001035.3(RYR2):c.5066T>C (p.Ile1689Thr)
|
rs763907583
|
0.00003
|
NM_001035.3(RYR2):c.5371A>G (p.Thr1791Ala)
|
rs1025023837
|
0.00003
|
NM_001035.3(RYR2):c.5570C>T (p.Pro1857Leu)
|
rs568198475
|
0.00003
|
NM_001035.3(RYR2):c.5761C>T (p.Arg1921Trp)
|
rs760010432
|
0.00003
|
NM_001035.3(RYR2):c.5774T>C (p.Ile1925Thr)
|
rs761505396
|
0.00003
|
NM_001035.3(RYR2):c.6158A>G (p.Lys2053Arg)
|
rs771590345
|
0.00003
|
NM_001035.3(RYR2):c.6232C>T (p.Pro2078Ser)
|
rs780993255
|
0.00003
|
NM_001035.3(RYR2):c.6772C>T (p.Arg2258Cys)
|
rs757350594
|
0.00003
|
NM_001035.3(RYR2):c.7342+4A>T
|
rs771358777
|
0.00003
|
NM_001035.3(RYR2):c.7354G>A (p.Val2452Met)
|
rs377136047
|
0.00003
|
NM_001035.3(RYR2):c.7493C>T (p.Ala2498Val)
|
rs374191985
|
0.00003
|
NM_001035.3(RYR2):c.8209-4T>C
|
rs371966353
|
0.00003
|
NM_001035.3(RYR2):c.8262G>C (p.Gln2754His)
|
rs773748242
|
0.00003
|
NM_001035.3(RYR2):c.9755A>G (p.His3252Arg)
|
rs760379293
|
0.00003
|
NM_001037.5(SCN1B):c.134G>A (p.Arg45His)
|
rs180943300
|
0.00003
|
NM_001037.5(SCN1B):c.23T>C (p.Val8Ala)
|
rs786205833
|
0.00003
|
NM_001037.5(SCN1B):c.627G>C (p.Glu209Asp)
|
rs745580499
|
0.00003
|
NM_001037.5(SCN1B):c.82A>G (p.Thr28Ala)
|
rs786205838
|
0.00003
|
NM_001040151.2(SCN3B):c.14A>G (p.Asn5Ser)
|
rs369522500
|
0.00003
|
NM_001040151.2(SCN3B):c.415C>T (p.Arg139Trp)
|
rs368054375
|
0.00003
|
NM_001077653.2(TBX20):c.785C>T (p.Thr262Met)
|
rs747369702
|
0.00003
|
NM_001077653.2(TBX20):c.895A>G (p.Ser299Gly)
|
rs879081798
|
0.00003
|
NM_001077653.2(TBX20):c.994C>T (p.Pro332Ser)
|
rs201431768
|
0.00003
|
NM_001079802.2(FKTN):c.1249G>A (p.Glu417Lys)
|
rs765934383
|
0.00003
|
NM_001079802.2(FKTN):c.1357G>A (p.Glu453Lys)
|
rs759936979
|
0.00003
|
NM_001079802.2(FKTN):c.140G>A (p.Arg47Gln)
|
rs753641411
|
0.00003
|
NM_001079802.2(FKTN):c.247A>G (p.Ile83Val)
|
rs757798867
|
0.00003
|
NM_001103.4(ACTN2):c.1107G>A (p.Ser369=)
|
rs369218950
|
0.00003
|
NM_001103.4(ACTN2):c.1295C>T (p.Ala432Val)
|
rs767291633
|
0.00003
|
NM_001103.4(ACTN2):c.1445G>A (p.Arg482Gln)
|
rs778023612
|
0.00003
|
NM_001103.4(ACTN2):c.1658G>C (p.Ser553Thr)
|
rs778767257
|
0.00003
|
NM_001103.4(ACTN2):c.1919G>A (p.Arg640His)
|
rs772909106
|
0.00003
|
NM_001103.4(ACTN2):c.1972G>C (p.Glu658Gln)
|
rs374135486
|
0.00003
|
NM_001103.4(ACTN2):c.1984C>T (p.Arg662Trp)
|
rs150021739
|
0.00003
|
NM_001103.4(ACTN2):c.2063A>G (p.Tyr688Cys)
|
rs145248415
|
0.00003
|
NM_001103.4(ACTN2):c.2162G>A (p.Arg721His)
|
rs546431200
|
0.00003
|
NM_001103.4(ACTN2):c.2194G>A (p.Ala732Thr)
|
rs777744290
|
0.00003
|
NM_001103.4(ACTN2):c.2551C>T (p.Arg851Cys)
|
rs141563497
|
0.00003
|
NM_001103.4(ACTN2):c.2555G>A (p.Arg852Gln)
|
rs727502888
|
0.00003
|
NM_001103.4(ACTN2):c.2567C>T (p.Pro856Leu)
|
rs375588211
|
0.00003
|
NM_001103.4(ACTN2):c.2668G>A (p.Gly890Arg)
|
rs536297856
|
0.00003
|
NM_001103.4(ACTN2):c.401T>C (p.Ile134Thr)
|
rs770368711
|
0.00003
|
NM_001103.4(ACTN2):c.541A>G (p.Lys181Glu)
|
rs779350391
|
0.00003
|
NM_001103.4(ACTN2):c.556C>T (p.Leu186Phe)
|
rs371930065
|
0.00003
|
NM_001103.4(ACTN2):c.983G>A (p.Arg328Gln)
|
rs774046373
|
0.00003
|
NM_001105206.3(LAMA4):c.1057G>A (p.Val353Ile)
|
rs781919461
|
0.00003
|
NM_001105206.3(LAMA4):c.107T>C (p.Ile36Thr)
|
rs70940809
|
0.00003
|
NM_001105206.3(LAMA4):c.1275G>T (p.Lys425Asn)
|
rs782618132
|
0.00003
|
NM_001105206.3(LAMA4):c.1411T>C (p.Phe471Leu)
|
rs782067046
|
0.00003
|
NM_001105206.3(LAMA4):c.1444A>G (p.Asn482Asp)
|
rs782319667
|
0.00003
|
NM_001105206.3(LAMA4):c.2096G>A (p.Gly699Asp)
|
rs782786459
|
0.00003
|
NM_001105206.3(LAMA4):c.2912C>T (p.Ser971Phe)
|
rs781856644
|
0.00003
|
NM_001105206.3(LAMA4):c.3585T>A (p.Asp1195Glu)
|
rs786205410
|
0.00003
|
NM_001105206.3(LAMA4):c.3697-3C>T
|
rs536295629
|
0.00003
|
NM_001105206.3(LAMA4):c.40T>C (p.Trp14Arg)
|
rs782293373
|
0.00003
|
NM_001105206.3(LAMA4):c.4235T>C (p.Leu1412Pro)
|
rs376369192
|
0.00003
|
NM_001105206.3(LAMA4):c.4409A>T (p.Tyr1470Phe)
|
rs1554326304
|
0.00003
|
NM_001105206.3(LAMA4):c.5254A>G (p.Asn1752Asp)
|
rs371370857
|
0.00003
|
NM_001105206.3(LAMA4):c.652G>A (p.Gly218Arg)
|
rs781829741
|
0.00003
|
NM_001105206.3(LAMA4):c.964A>C (p.Lys322Gln)
|
rs1375382054
|
0.00003
|
NM_001105206.3(LAMA4):c.997G>A (p.Ala333Thr)
|
rs576711704
|
0.00003
|
NM_001134363.3(RBM20):c.1066A>C (p.Thr356Pro)
|
rs1021465138
|
0.00003
|
NM_001134363.3(RBM20):c.1603G>A (p.Val535Ile)
|
rs183007628
|
0.00003
|
NM_001134363.3(RBM20):c.2173G>A (p.Glu725Lys)
|
rs190416018
|
0.00003
|
NM_001134363.3(RBM20):c.3023G>C (p.Arg1008Pro)
|
rs886038858
|
0.00003
|
NM_001134363.3(RBM20):c.3169C>T (p.Arg1057Trp)
|
rs199830512
|
0.00003
|
NM_001134363.3(RBM20):c.3226G>T (p.Ala1076Ser)
|
rs780673583
|
0.00003
|
NM_001134363.3(RBM20):c.3271G>A (p.Glu1091Lys)
|
rs565524160
|
0.00003
|
NM_001134363.3(RBM20):c.3314C>T (p.Pro1105Leu)
|
rs1241224023
|
0.00003
|
NM_001148.6(ANK2):c.10099T>A (p.Ser3367Thr)
|
rs878854255
|
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.11695G>T (p.Val3899Phe)
|
rs878854256
|
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.3829A>T (p.Thr1277Ser)
|
rs1385787370
|
0.00003
|
NM_001148.6(ANK2):c.4122+4C>A
|
rs756374268
|
0.00003
|
NM_001148.6(ANK2):c.4883A>G (p.Lys1628Arg)
|
rs886038910
|
0.00003
|
NM_001148.6(ANK2):c.5575C>A (p.Pro1859Thr)
|
rs781312863
|
0.00003
|
NM_001148.6(ANK2):c.6977A>G (p.Asp2326Gly)
|
rs777618921
|
0.00003
|
NM_001148.6(ANK2):c.792+4T>C
|
rs374253227
|
0.00003
|
NM_001159699.2(FHL1):c.248G>A (p.Arg83His)
|
rs745544703
|
0.00003
|
NM_001159699.2(FHL1):c.253G>A (p.Ala85Thr)
|
rs139625615
|
0.00003
|
NM_001159699.2(FHL1):c.340T>A (p.Ser114Thr)
|
rs756434530
|
0.00003
|
NM_001159699.2(FHL1):c.379+4C>T
|
rs769453769
|
0.00003
|
NM_001232.4(CASQ2):c.175C>T (p.Pro59Ser)
|
rs866858282
|
0.00003
|
NM_001232.4(CASQ2):c.491A>G (p.Tyr164Cys)
|
rs72554062
|
0.00003
|
NM_001232.4(CASQ2):c.650A>G (p.Tyr217Cys)
|
rs373227317
|
0.00003
|
NM_001232.4(CASQ2):c.752G>A (p.Arg251His)
|
rs200265771
|
0.00003
|
NM_001232.4(CASQ2):c.757C>A (p.Arg253Ser)
|
rs727504510
|
0.00003
|
NM_001232.4(CASQ2):c.878G>A (p.Arg293Gln)
|
rs377691566
|
0.00003
|
NM_001232.4(CASQ2):c.943G>A (p.Val315Ile)
|
rs771188512
|
0.00003
|
NM_001232.4(CASQ2):c.979T>C (p.Phe327Leu)
|
rs976749091
|
0.00003
|
NM_001267550.2(TTN):c.10046C>T (p.Thr3349Ile)
|
rs727503678
|
0.00003
|
NM_001267550.2(TTN):c.100829G>A (p.Gly33610Asp)
|
rs373754986
|
0.00003
|
NM_001267550.2(TTN):c.101040G>T (p.Lys33680Asn)
|
rs776913696
|
0.00003
|
NM_001267550.2(TTN):c.101479C>T (p.Arg33827Cys)
|
rs372067498
|
0.00003
|
NM_001267550.2(TTN):c.10162C>T (p.Arg3388Trp)
|
rs758680640
|
0.00003
|
NM_001267550.2(TTN):c.102094_102096dup (p.Tyr34032dup)
|
rs763311506
|
0.00003
|
NM_001267550.2(TTN):c.103486A>G (p.Thr34496Ala)
|
rs183912990
|
0.00003
|
NM_001267550.2(TTN):c.103610G>A (p.Arg34537Gln)
|
rs369028576
|
0.00003
|
NM_001267550.2(TTN):c.103847G>C (p.Arg34616Thr)
|
rs573782418
|
0.00003
|
NM_001267550.2(TTN):c.103906C>T (p.Arg34636Cys)
|
rs768575577
|
0.00003
|
NM_001267550.2(TTN):c.105182C>T (p.Ala35061Val)
|
rs762136167
|
0.00003
|
NM_001267550.2(TTN):c.106054T>C (p.Ser35352Pro)
|
rs370094513
|
0.00003
|
NM_001267550.2(TTN):c.107009G>C (p.Arg35670Thr)
|
rs534961012
|
0.00003
|
NM_001267550.2(TTN):c.11614G>A (p.Gly3872Ser)
|
rs754936734
|
0.00003
|
NM_001267550.2(TTN):c.12103A>G (p.Met4035Val)
|
rs727503659
|
0.00003
|
NM_001267550.2(TTN):c.1232C>G (p.Thr411Ser)
|
rs886042193
|
0.00003
|
NM_001267550.2(TTN):c.1245+3A>G
|
rs757221300
|
0.00003
|
NM_001267550.2(TTN):c.1288G>A (p.Val430Ile)
|
rs371639583
|
0.00003
|
NM_001267550.2(TTN):c.13228G>A (p.Glu4410Lys)
|
rs374312091
|
0.00003
|
NM_001267550.2(TTN):c.14005G>A (p.Glu4669Lys)
|
rs368543748
|
0.00003
|
NM_001267550.2(TTN):c.14152A>G (p.Lys4718Glu)
|
rs757119133
|
0.00003
|
NM_001267550.2(TTN):c.14272G>A (p.Glu4758Lys)
|
rs928709551
|
0.00003
|
NM_001267550.2(TTN):c.14305G>A (p.Glu4769Lys)
|
rs566108422
|
0.00003
|
NM_001267550.2(TTN):c.15562C>A (p.Gln5188Lys)
|
rs886038908
|
0.00003
|
NM_001267550.2(TTN):c.2138G>A (p.Arg713Gln)
|
rs761383124
|
0.00003
|
NM_001267550.2(TTN):c.2998C>T (p.Leu1000Phe)
|
rs140953779
|
0.00003
|
NM_001267550.2(TTN):c.3847A>G (p.Ile1283Val)
|
rs1391955404
|
0.00003
|
NM_001267550.2(TTN):c.3913G>T (p.Gly1305Trp)
|
rs199889888
|
0.00003
|
NM_001267550.2(TTN):c.40723+1G>T
|
rs371770198
|
0.00003
|
NM_001267550.2(TTN):c.43316G>A (p.Arg14439His)
|
rs764117439
|
0.00003
|
NM_001267550.2(TTN):c.43681G>T (p.Asp14561Tyr)
|
rs745655055
|
0.00003
|
NM_001267550.2(TTN):c.44366A>G (p.Tyr14789Cys)
|
rs397517577
|
0.00003
|
NM_001267550.2(TTN):c.44987G>A (p.Arg14996His)
|
rs762128685
|
0.00003
|
NM_001267550.2(TTN):c.46984C>T (p.Arg15662Cys)
|
rs762723635
|
0.00003
|
NM_001267550.2(TTN):c.47090G>A (p.Arg15697His)
|
rs757663389
|
0.00003
|
NM_001267550.2(TTN):c.48023G>A (p.Arg16008Gln)
|
rs771224957
|
0.00003
|
NM_001267550.2(TTN):c.48164G>A (p.Arg16055His)
|
rs72677238
|
0.00003
|
NM_001267550.2(TTN):c.48827T>C (p.Ile16276Thr)
|
rs759916327
|
0.00003
|
NM_001267550.2(TTN):c.49207T>C (p.Ser16403Pro)
|
rs746009199
|
0.00003
|
NM_001267550.2(TTN):c.50077G>A (p.Val16693Ile)
|
rs377141765
|
0.00003
|
NM_001267550.2(TTN):c.50812G>C (p.Glu16938Gln)
|
rs72677250
|
0.00003
|
NM_001267550.2(TTN):c.51943G>A (p.Val17315Ile)
|
rs778099881
|
0.00003
|
NM_001267550.2(TTN):c.52505T>C (p.Leu17502Ser)
|
rs368013299
|
0.00003
|
NM_001267550.2(TTN):c.52589A>G (p.Asn17530Ser)
|
rs762214300
|
0.00003
|
NM_001267550.2(TTN):c.52831G>A (p.Val17611Ile)
|
rs748265704
|
0.00003
|
NM_001267550.2(TTN):c.53881+4C>T
|
rs187632918
|
0.00003
|
NM_001267550.2(TTN):c.54140C>T (p.Ala18047Val)
|
rs373815064
|
0.00003
|
NM_001267550.2(TTN):c.55988A>G (p.Asn18663Ser)
|
rs368350844
|
0.00003
|
NM_001267550.2(TTN):c.56171A>G (p.Lys18724Arg)
|
rs201091423
|
0.00003
|
NM_001267550.2(TTN):c.56822C>T (p.Ala18941Val)
|
rs754264431
|
0.00003
|
NM_001267550.2(TTN):c.56960T>C (p.Ile18987Thr)
|
rs373351577
|
0.00003
|
NM_001267550.2(TTN):c.57300T>G (p.Asp19100Glu)
|
rs876658069
|
0.00003
|
NM_001267550.2(TTN):c.57332G>A (p.Arg19111Gln)
|
rs375808207
|
0.00003
|
NM_001267550.2(TTN):c.57848-4G>A
|
rs369462016
|
0.00003
|
NM_001267550.2(TTN):c.57859C>T (p.Arg19287Cys)
|
rs372710684
|
0.00003
|
NM_001267550.2(TTN):c.5797G>A (p.Glu1933Lys)
|
rs769734824
|
0.00003
|
NM_001267550.2(TTN):c.58019T>A (p.Leu19340His)
|
rs777213118
|
0.00003
|
NM_001267550.2(TTN):c.583+4C>T
|
rs764670848
|
0.00003
|
NM_001267550.2(TTN):c.59966T>C (p.Val19989Ala)
|
rs778982581
|
0.00003
|
NM_001267550.2(TTN):c.60008G>A (p.Arg20003His)
|
rs756091180
|
0.00003
|
NM_001267550.2(TTN):c.61447C>T (p.Arg20483Cys)
|
rs770139489
|
0.00003
|
NM_001267550.2(TTN):c.62611C>G (p.Leu20871Val)
|
rs767670018
|
0.00003
|
NM_001267550.2(TTN):c.63185T>G (p.Ile21062Arg)
|
rs575313522
|
0.00003
|
NM_001267550.2(TTN):c.63665T>C (p.Val21222Ala)
|
rs183595734
|
0.00003
|
NM_001267550.2(TTN):c.64715T>C (p.Ile21572Thr)
|
rs765749707
|
0.00003
|
NM_001267550.2(TTN):c.64916G>A (p.Arg21639Gln)
|
rs373282633
|
0.00003
|
NM_001267550.2(TTN):c.65410T>C (p.Trp21804Arg)
|
rs745626132
|
0.00003
|
NM_001267550.2(TTN):c.65987G>A (p.Arg21996His)
|
rs374489349
|
0.00003
|
NM_001267550.2(TTN):c.659G>A (p.Arg220Gln)
|
rs794729621
|
0.00003
|
NM_001267550.2(TTN):c.66650T>G (p.Phe22217Cys)
|
rs764330098
|
0.00003
|
NM_001267550.2(TTN):c.6668A>T (p.His2223Leu)
|
rs372979075
|
0.00003
|
NM_001267550.2(TTN):c.66863G>A (p.Arg22288His)
|
rs537871205
|
0.00003
|
NM_001267550.2(TTN):c.69044C>T (p.Ala23015Val)
|
rs771710562
|
0.00003
|
NM_001267550.2(TTN):c.69517G>A (p.Gly23173Arg)
|
rs773592810
|
0.00003
|
NM_001267550.2(TTN):c.69749C>T (p.Thr23250Ile)
|
rs771327436
|
0.00003
|
NM_001267550.2(TTN):c.73213G>A (p.Glu24405Lys)
|
rs764485436
|
0.00003
|
NM_001267550.2(TTN):c.73637A>T (p.Asp24546Val)
|
rs769744030
|
0.00003
|
NM_001267550.2(TTN):c.73975G>A (p.Gly24659Ser)
|
rs776423108
|
0.00003
|
NM_001267550.2(TTN):c.74615G>A (p.Arg24872Lys)
|
rs923165795
|
0.00003
|
NM_001267550.2(TTN):c.74814T>A (p.Ser24938Arg)
|
rs747593205
|
0.00003
|
NM_001267550.2(TTN):c.75526C>T (p.Arg25176Cys)
|
rs368339903
|
0.00003
|
NM_001267550.2(TTN):c.77093T>G (p.Val25698Gly)
|
rs759278736
|
0.00003
|
NM_001267550.2(TTN):c.78244T>A (p.Cys26082Ser)
|
rs794727452
|
0.00003
|
NM_001267550.2(TTN):c.78401G>A (p.Arg26134His)
|
rs377668457
|
0.00003
|
NM_001267550.2(TTN):c.78413C>A (p.Ala26138Asp)
|
rs373587432
|
0.00003
|
NM_001267550.2(TTN):c.78493G>A (p.Ala26165Thr)
|
rs886039080
|
0.00003
|
NM_001267550.2(TTN):c.79481C>T (p.Ala26494Val)
|
rs368484949
|
0.00003
|
NM_001267550.2(TTN):c.79685G>A (p.Arg26562Gln)
|
rs538960023
|
0.00003
|
NM_001267550.2(TTN):c.80882C>T (p.Ala26961Val)
|
rs749194310
|
0.00003
|
NM_001267550.2(TTN):c.81178G>T (p.Asp27060Tyr)
|
rs372875889
|
0.00003
|
NM_001267550.2(TTN):c.82424C>A (p.Thr27475Lys)
|
rs377169807
|
0.00003
|
NM_001267550.2(TTN):c.84353G>T (p.Arg28118Leu)
|
rs72648220
|
0.00003
|
NM_001267550.2(TTN):c.84976C>T (p.Arg28326Trp)
|
rs749633038
|
0.00003
|
NM_001267550.2(TTN):c.85450G>A (p.Asp28484Asn)
|
rs56330345
|
0.00003
|
NM_001267550.2(TTN):c.86120G>A (p.Gly28707Glu)
|
rs754207859
|
0.00003
|
NM_001267550.2(TTN):c.86654G>A (p.Arg28885His)
|
rs371539720
|
0.00003
|
NM_001267550.2(TTN):c.86974T>C (p.Cys28992Arg)
|
rs769162510
|
0.00003
|
NM_001267550.2(TTN):c.87754G>A (p.Glu29252Lys)
|
rs1164269030
|
0.00003
|
NM_001267550.2(TTN):c.88309G>A (p.Gly29437Ser)
|
rs199916082
|
0.00003
|
NM_001267550.2(TTN):c.88787C>G (p.Thr29596Ser)
|
rs786205371
|
0.00003
|
NM_001267550.2(TTN):c.8902+1G>A
|
rs770392096
|
0.00003
|
NM_001267550.2(TTN):c.89984T>C (p.Ile29995Thr)
|
rs754676727
|
0.00003
|
NM_001267550.2(TTN):c.90332T>C (p.Leu30111Pro)
|
rs368516973
|
0.00003
|
NM_001267550.2(TTN):c.90845C>T (p.Thr30282Met)
|
rs756769026
|
0.00003
|
NM_001267550.2(TTN):c.91520C>T (p.Pro30507Leu)
|
rs774107448
|
0.00003
|
NM_001267550.2(TTN):c.9163+5G>C
|
rs775448783
|
0.00003
|
NM_001267550.2(TTN):c.93107T>C (p.Met31036Thr)
|
rs376942948
|
0.00003
|
NM_001267550.2(TTN):c.9337C>T (p.Arg3113Cys)
|
rs751998418
|
0.00003
|
NM_001267550.2(TTN):c.93388G>A (p.Ala31130Thr)
|
rs759107930
|
0.00003
|
NM_001267550.2(TTN):c.94075G>A (p.Val31359Ile)
|
rs780436747
|
0.00003
|
NM_001267550.2(TTN):c.94093C>T (p.Arg31365Cys)
|
rs372593328
|
0.00003
|
NM_001267550.2(TTN):c.94591G>A (p.Ala31531Thr)
|
rs765066425
|
0.00003
|
NM_001267550.2(TTN):c.94826A>G (p.Tyr31609Cys)
|
rs368515116
|
0.00003
|
NM_001267550.2(TTN):c.94910C>T (p.Ala31637Val)
|
rs1384723170
|
0.00003
|
NM_001267550.2(TTN):c.95068G>A (p.Val31690Met)
|
rs727503543
|
0.00003
|
NM_001267550.2(TTN):c.95149G>A (p.Val31717Ile)
|
rs150930737
|
0.00003
|
NM_001267550.2(TTN):c.95566C>T (p.Arg31856Cys)
|
rs72648261
|
0.00003
|
NM_001267550.2(TTN):c.96934C>T (p.Pro32312Ser)
|
rs1024823449
|
0.00003
|
NM_001267550.2(TTN):c.96997C>T (p.Arg32333Cys)
|
rs368918455
|
0.00003
|
NM_001267550.2(TTN):c.98591T>C (p.Val32864Ala)
|
rs201257063
|
0.00003
|
NM_001267550.2(TTN):c.99752A>G (p.Tyr33251Cys)
|
rs377456237
|
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.883G>A (p.Gly295Arg)
|
rs147940106
|
0.00003
|
NM_001289808.2(CRYAB):c.115C>G (p.Pro39Ala)
|
rs145768025
|
0.00003
|
NM_001289808.2(CRYAB):c.277G>T (p.Val93Leu)
|
rs547282752
|
0.00003
|
NM_001289808.2(CRYAB):c.368G>A (p.Arg123Gln)
|
rs782206421
|
0.00003
|
NM_001308093.3(GATA4):c.62G>T (p.Gly21Val)
|
rs202213149
|
0.00003
|
NM_001365276.2(TNXB):c.1808G>A (p.Gly603Asp)
|
rs753344187
|
0.00003
|
NM_001365276.2(TNXB):c.1854C>G (p.Ile618Met)
|
rs370432702
|
0.00003
|
NM_001365276.2(TNXB):c.2296C>T (p.Arg766Trp)
|
rs1232589427
|
0.00003
|
NM_001365276.2(TNXB):c.4297G>A (p.Gly1433Arg)
|
rs755953436
|
0.00003
|
NM_001365276.2(TNXB):c.4492G>A (p.Glu1498Lys)
|
rs374750804
|
0.00003
|
NM_001365276.2(TNXB):c.7546G>A (p.Ala2516Thr)
|
rs1478498254
|
0.00003
|
NM_001365276.2(TNXB):c.7793G>A (p.Arg2598His)
|
rs771647661
|
0.00003
|
NM_001365276.2(TNXB):c.9679G>A (p.Gly3227Arg)
|
rs752152483
|
0.00003
|
NM_001365276.2(TNXB):c.9899A>G (p.Gln3300Arg)
|
rs776725505
|
0.00003
|
NM_001367624.2(ZNF469):c.-2C>T
|
rs1048563743
|
0.00003
|
NM_001367624.2(ZNF469):c.10196C>T (p.Thr3399Met)
|
rs1009705513
|
0.00003
|
NM_001367624.2(ZNF469):c.10394C>A (p.Ala3465Asp)
|
rs1003677220
|
0.00003
|
NM_001367624.2(ZNF469):c.10420C>T (p.Arg3474Trp)
|
rs1394199246
|
0.00003
|
NM_001367624.2(ZNF469):c.10480C>T (p.Arg3494Trp)
|
rs921811959
|
0.00003
|
NM_001367624.2(ZNF469):c.11444C>T (p.Thr3815Met)
|
rs1057518368
|
0.00003
|
NM_001367624.2(ZNF469):c.11809G>A (p.Gly3937Arg)
|
rs886052421
|
0.00003
|
NM_001367624.2(ZNF469):c.1882C>A (p.Pro628Thr)
|
rs886052393
|
0.00003
|
NM_001367624.2(ZNF469):c.2783C>A (p.Ser928Tyr)
|
rs1342047498
|
0.00003
|
NM_001367624.2(ZNF469):c.4609G>A (p.Gly1537Ser)
|
rs528560466
|
0.00003
|
NM_001367624.2(ZNF469):c.4615G>A (p.Ala1539Thr)
|
rs559565235
|
0.00003
|
NM_001367624.2(ZNF469):c.4636G>A (p.Gly1546Arg)
|
rs947954409
|
0.00003
|
NM_001367624.2(ZNF469):c.523G>A (p.Ala175Thr)
|
rs1085307628
|
0.00003
|
NM_001367624.2(ZNF469):c.6190G>A (p.Glu2064Lys)
|
rs1195523623
|
0.00003
|
NM_001367624.2(ZNF469):c.6941C>T (p.Pro2314Leu)
|
rs764584228
|
0.00003
|
NM_001367624.2(ZNF469):c.7300C>G (p.Pro2434Ala)
|
rs1326987889
|
0.00003
|
NM_001367624.2(ZNF469):c.8438C>G (p.Thr2813Ser)
|
rs985304000
|
0.00003
|
NM_001367624.2(ZNF469):c.8762G>A (p.Cys2921Tyr)
|
rs1029645463
|
0.00003
|
NM_001367624.2(ZNF469):c.8944G>C (p.Asp2982His)
|
rs1006857833
|
0.00003
|
NM_001367624.2(ZNF469):c.9124C>T (p.Arg3042Cys)
|
rs546845105
|
0.00003
|
NM_001367624.2(ZNF469):c.9803G>A (p.Gly3268Asp)
|
rs749570458
|
0.00003
|
NM_001378454.1(ALMS1):c.10985A>G (p.Glu3662Gly)
|
rs377418428
|
0.00003
|
NM_001378454.1(ALMS1):c.11365C>T (p.Arg3789Trp)
|
rs752623561
|
0.00003
|
NM_001378454.1(ALMS1):c.11441A>C (p.Asn3814Thr)
|
rs763907736
|
0.00003
|
NM_001378454.1(ALMS1):c.11798G>A (p.Arg3933His)
|
rs45576434
|
0.00003
|
NM_001378454.1(ALMS1):c.11854A>G (p.Lys3952Glu)
|
rs771282076
|
0.00003
|
NM_001378454.1(ALMS1):c.11994G>C (p.Arg3998Ser)
|
rs28730862
|
0.00003
|
NM_001378454.1(ALMS1):c.12076A>G (p.Arg4026Gly)
|
rs754439156
|
0.00003
|
NM_001378454.1(ALMS1):c.12152G>A (p.Arg4051His)
|
rs750598025
|
0.00003
|
NM_001378454.1(ALMS1):c.12257G>A (p.Arg4086Gln)
|
rs917280846
|
0.00003
|
NM_001378454.1(ALMS1):c.12275G>A (p.Arg4092His)
|
rs748624161
|
0.00003
|
NM_001378454.1(ALMS1):c.12350A>G (p.Gln4117Arg)
|
rs200038446
|
0.00003
|
NM_001378454.1(ALMS1):c.1432+4C>T
|
rs200933935
|
0.00003
|
NM_001378454.1(ALMS1):c.1607C>G (p.Thr536Ser)
|
rs766105909
|
0.00003
|
NM_001378454.1(ALMS1):c.1856C>T (p.Ser619Phe)
|
rs377341653
|
0.00003
|
NM_001378454.1(ALMS1):c.2107G>C (p.Asp703His)
|
rs756176783
|
0.00003
|
NM_001378454.1(ALMS1):c.2122A>G (p.Thr708Ala)
|
rs571389435
|
0.00003
|
NM_001378454.1(ALMS1):c.2134C>G (p.Leu712Val)
|
rs371524359
|
0.00003
|
NM_001378454.1(ALMS1):c.2285G>C (p.Ser762Thr)
|
rs768930001
|
0.00003
|
NM_001378454.1(ALMS1):c.245C>T (p.Ala82Val)
|
rs747750620
|
0.00003
|
NM_001378454.1(ALMS1):c.2486A>G (p.His829Arg)
|
rs370830603
|
0.00003
|
NM_001378454.1(ALMS1):c.2494G>A (p.Glu832Lys)
|
rs373979607
|
0.00003
|
NM_001378454.1(ALMS1):c.2515G>A (p.Ala839Thr)
|
rs1356972872
|
0.00003
|
NM_001378454.1(ALMS1):c.2714C>G (p.Ser905Cys)
|
rs748479099
|
0.00003
|
NM_001378454.1(ALMS1):c.3076G>C (p.Ala1026Pro)
|
rs201451396
|
0.00003
|
NM_001378454.1(ALMS1):c.3412A>G (p.Thr1138Ala)
|
rs201884768
|
0.00003
|
NM_001378454.1(ALMS1):c.3484A>G (p.Thr1162Ala)
|
rs763680884
|
0.00003
|
NM_001378454.1(ALMS1):c.3959C>G (p.Ala1320Gly)
|
rs1399638135
|
0.00003
|
NM_001378454.1(ALMS1):c.451-4C>G
|
rs761589577
|
0.00003
|
NM_001378454.1(ALMS1):c.4795A>G (p.Ile1599Val)
|
rs377671796
|
0.00003
|
NM_001378454.1(ALMS1):c.4883A>G (p.Tyr1628Cys)
|
rs375939859
|
0.00003
|
NM_001378454.1(ALMS1):c.5724G>C (p.Gln1908His)
|
rs779739318
|
0.00003
|
NM_001378454.1(ALMS1):c.587C>T (p.Thr196Met)
|
rs562345472
|
0.00003
|
NM_001378454.1(ALMS1):c.5909T>C (p.Val1970Ala)
|
rs765405386
|
0.00003
|
NM_001378454.1(ALMS1):c.6379C>T (p.Pro2127Ser)
|
rs771800459
|
0.00003
|
NM_001378454.1(ALMS1):c.651A>G (p.Ile217Met)
|
rs774831792
|
0.00003
|
NM_001378454.1(ALMS1):c.6707C>T (p.Pro2236Leu)
|
rs201737248
|
0.00003
|
NM_001378454.1(ALMS1):c.6937A>G (p.Asn2313Asp)
|
rs766346478
|
0.00003
|
NM_001378454.1(ALMS1):c.7013C>T (p.Thr2338Ile)
|
rs373004988
|
0.00003
|
NM_001378454.1(ALMS1):c.7040G>T (p.Gly2347Val)
|
rs752336806
|
0.00003
|
NM_001378454.1(ALMS1):c.7199G>A (p.Gly2400Glu)
|
rs373985919
|
0.00003
|
NM_001378454.1(ALMS1):c.7402A>G (p.Ser2468Gly)
|
rs1007457582
|
0.00003
|
NM_001378454.1(ALMS1):c.7892C>T (p.Ala2631Val)
|
rs1027248513
|
0.00003
|
NM_001378454.1(ALMS1):c.8074A>G (p.Lys2692Glu)
|
rs201025991
|
0.00003
|
NM_001378454.1(ALMS1):c.8122A>C (p.Met2708Leu)
|
rs371904071
|
0.00003
|
NM_001378454.1(ALMS1):c.8203G>A (p.Gly2735Ser)
|
rs761136859
|
0.00003
|
NM_001378454.1(ALMS1):c.820A>C (p.Ser274Arg)
|
rs761800808
|
0.00003
|
NM_001378454.1(ALMS1):c.8257C>A (p.His2753Asn)
|
rs200718841
|
0.00003
|
NM_001378454.1(ALMS1):c.8489G>A (p.Cys2830Tyr)
|
rs369720907
|
0.00003
|
NM_001378454.1(ALMS1):c.8729A>G (p.His2910Arg)
|
rs781370939
|
0.00003
|
NM_001378454.1(ALMS1):c.8890A>G (p.Ile2964Val)
|
rs529506570
|
0.00003
|
NM_001378454.1(ALMS1):c.9565C>T (p.Leu3189Phe)
|
rs376367125
|
0.00003
|
NM_001378969.1(KCND3):c.1960G>A (p.Ala654Thr)
|
rs774711788
|
0.00003
|
NM_001378969.1(KCND3):c.430G>A (p.Ala144Thr)
|
rs143933558
|
0.00003
|
NM_001379200.1(TBX1):c.617C>T (p.Pro206Leu)
|
rs766608075
|
0.00003
|
NM_001458.5(FLNC):c.1471G>A (p.Val491Met)
|
rs770264114
|
0.00003
|
NM_001458.5(FLNC):c.1528A>C (p.Lys510Gln)
|
rs955475416
|
0.00003
|
NM_001458.5(FLNC):c.19T>G (p.Tyr7Asp)
|
rs896068048
|
0.00003
|
NM_001458.5(FLNC):c.2239G>A (p.Val747Ile)
|
rs764876916
|
0.00003
|
NM_001458.5(FLNC):c.2491G>A (p.Val831Ile)
|
rs746478952
|
0.00003
|
NM_001458.5(FLNC):c.2500A>G (p.Thr834Ala)
|
rs781169622
|
0.00003
|
NM_001458.5(FLNC):c.2845G>C (p.Asp949His)
|
rs761905908
|
0.00003
|
NM_001458.5(FLNC):c.2930-5C>T
|
rs371599113
|
0.00003
|
NM_001458.5(FLNC):c.3241G>A (p.Ala1081Thr)
|
rs781760817
|
0.00003
|
NM_001458.5(FLNC):c.3260C>G (p.Thr1087Ser)
|
rs372205719
|
0.00003
|
NM_001458.5(FLNC):c.3353C>T (p.Ala1118Val)
|
rs780461379
|
0.00003
|
NM_001458.5(FLNC):c.3376C>G (p.Pro1126Ala)
|
rs748785077
|
0.00003
|
NM_001458.5(FLNC):c.3622G>A (p.Ala1208Thr)
|
rs528279616
|
0.00003
|
NM_001458.5(FLNC):c.3800G>A (p.Arg1267Gln)
|
rs768767784
|
0.00003
|
NM_001458.5(FLNC):c.3866C>T (p.Thr1289Met)
|
rs755896234
|
0.00003
|
NM_001458.5(FLNC):c.4413A>T (p.Gln1471His)
|
rs765435961
|
0.00003
|
NM_001458.5(FLNC):c.4420C>T (p.Arg1474Trp)
|
rs372454458
|
0.00003
|
NM_001458.5(FLNC):c.4871C>T (p.Ser1624Leu)
|
rs879255639
|
0.00003
|
NM_001458.5(FLNC):c.4970G>A (p.Arg1657Gln)
|
rs374294752
|
0.00003
|
NM_001458.5(FLNC):c.5000C>T (p.Thr1667Met)
|
rs753945728
|
0.00003
|
NM_001458.5(FLNC):c.5165G>C (p.Gly1722Ala)
|
rs775405275
|
0.00003
|
NM_001458.5(FLNC):c.5273G>A (p.Arg1758Gln)
|
rs573984029
|
0.00003
|
NM_001458.5(FLNC):c.5377G>A (p.Val1793Met)
|
rs587780337
|
0.00003
|
NM_001458.5(FLNC):c.550G>A (p.Asp184Asn)
|
rs1215344798
|
0.00003
|
NM_001458.5(FLNC):c.5984G>A (p.Arg1995His)
|
rs371508414
|
0.00003
|
NM_001458.5(FLNC):c.6040G>A (p.Val2014Met)
|
rs772477251
|
0.00003
|
NM_001458.5(FLNC):c.6538C>T (p.Arg2180Cys)
|
rs779029827
|
0.00003
|
NM_001458.5(FLNC):c.6569G>A (p.Arg2190His)
|
rs762680314
|
0.00003
|
NM_001458.5(FLNC):c.6595G>A (p.Gly2199Arg)
|
rs368977589
|
0.00003
|
NM_001458.5(FLNC):c.6642C>T (p.Gly2214=)
|
rs546247674
|
0.00003
|
NM_001458.5(FLNC):c.6715C>T (p.Arg2239Trp)
|
rs367820987
|
0.00003
|
NM_001458.5(FLNC):c.6779A>G (p.Lys2260Arg)
|
rs751019991
|
0.00003
|
NM_001458.5(FLNC):c.7123G>A (p.Val2375Ile)
|
rs768941858
|
0.00003
|
NM_001458.5(FLNC):c.7291G>A (p.Val2431Met)
|
rs572952653
|
0.00003
|
NM_001458.5(FLNC):c.7309C>T (p.Arg2437Trp)
|
rs756353876
|
0.00003
|
NM_001458.5(FLNC):c.7400G>A (p.Arg2467His)
|
rs775910704
|
0.00003
|
NM_001458.5(FLNC):c.7484G>A (p.Arg2495His)
|
rs757219498
|
0.00003
|
NM_001458.5(FLNC):c.7564G>A (p.Val2522Met)
|
rs780917403
|
0.00003
|
NM_001458.5(FLNC):c.7823C>T (p.Thr2608Met)
|
rs1175931652
|
0.00003
|
NM_001458.5(FLNC):c.7948G>A (p.Val2650Met)
|
rs372172779
|
0.00003
|
NM_001458.5(FLNC):c.898G>A (p.Val300Met)
|
rs765885585
|
0.00003
|
NM_001458.5(FLNC):c.919G>A (p.Val307Met)
|
rs763968152
|
0.00003
|
NM_001927.4(DES):c.391C>A (p.Gln131Lys)
|
rs771499260
|
0.00003
|
NM_001927.4(DES):c.637G>A (p.Ala213Thr)
|
rs918962036
|
0.00003
|
NM_001943.5(DSG2):c.122A>T (p.His41Leu)
|
rs777373864
|
0.00003
|
NM_001943.5(DSG2):c.1555G>T (p.Asp519Tyr)
|
rs778119035
|
0.00003
|
NM_001943.5(DSG2):c.1642C>T (p.Arg548Cys)
|
rs550400909
|
0.00003
|
NM_001943.5(DSG2):c.1792G>A (p.Gly598Ser)
|
rs773666300
|
0.00003
|
NM_001943.5(DSG2):c.2079A>C (p.Glu693Asp)
|
rs375595872
|
0.00003
|
NM_001943.5(DSG2):c.216+3A>C
|
rs774208829
|
0.00003
|
NM_001943.5(DSG2):c.2468A>G (p.Asp823Gly)
|
rs777642924
|
0.00003
|
NM_001943.5(DSG2):c.2510C>A (p.Ala837Asp)
|
rs756338201
|
0.00003
|
NM_001943.5(DSG2):c.3039C>A (p.Tyr1013Ter)
|
rs539821357
|
0.00003
|
NM_001943.5(DSG2):c.3040G>A (p.Val1014Ile)
|
rs200830807
|
0.00003
|
NM_001943.5(DSG2):c.721G>A (p.Ala241Thr)
|
rs371918777
|
0.00003
|
NM_001999.4(FBN2):c.4495A>C (p.Asn1499His)
|
rs771260299
|
0.00003
|
NM_002230.4(JUP):c.1439A>G (p.Tyr480Cys)
|
rs782756834
|
0.00003
|
NM_002230.4(JUP):c.1729C>T (p.Arg577Cys)
|
rs782354654
|
0.00003
|
NM_002230.4(JUP):c.2021A>G (p.Lys674Arg)
|
rs1914011596
|
0.00003
|
NM_002230.4(JUP):c.467C>T (p.Pro156Leu)
|
rs782052422
|
0.00003
|
NM_002294.3(LAMP2):c.1000G>C (p.Glu334Gln)
|
rs766962315
|
0.00003
|
NM_002294.3(LAMP2):c.204C>G (p.Asp68Glu)
|
rs376215728
|
0.00003
|
NM_002294.3(LAMP2):c.320C>G (p.Ser107Cys)
|
rs730880497
|
0.00003
|
NM_002294.3(LAMP2):c.398-3T>C
|
rs1045629648
|
0.00003
|
NM_002294.3(LAMP2):c.640C>A (p.Pro214Thr)
|
rs776101722
|
0.00003
|
NM_002294.3(LAMP2):c.999A>C (p.Lys333Asn)
|
rs1341268966
|
0.00003
|
NM_002471.4(MYH6):c.1088T>C (p.Met363Thr)
|
rs150272218
|
0.00003
|
NM_002471.4(MYH6):c.1885G>A (p.Asp629Asn)
|
rs180904654
|
0.00003
|
NM_002471.4(MYH6):c.1960C>T (p.Arg654Trp)
|
rs369938365
|
0.00003
|
NM_002471.4(MYH6):c.2039G>A (p.Arg680Gln)
|
rs551746815
|
0.00003
|
NM_002471.4(MYH6):c.2065C>A (p.Pro689Thr)
|
rs748016197
|
0.00003
|
NM_002471.4(MYH6):c.2141G>A (p.Arg714His)
|
rs776602843
|
0.00003
|
NM_002471.4(MYH6):c.233A>G (p.Gln78Arg)
|
rs772216708
|
0.00003
|
NM_002471.4(MYH6):c.2399G>A (p.Arg800His)
|
rs535438755
|
0.00003
|
NM_002471.4(MYH6):c.2540C>T (p.Thr847Met)
|
rs759408374
|
0.00003
|
NM_002471.4(MYH6):c.2615G>A (p.Arg872His)
|
rs773162706
|
0.00003
|
NM_002471.4(MYH6):c.2722G>A (p.Asp908Asn)
|
rs758061689
|
0.00003
|
NM_002471.4(MYH6):c.2827C>T (p.Arg943Cys)
|
rs368912844
|
0.00003
|
NM_002471.4(MYH6):c.2984C>G (p.Thr995Ser)
|
rs753891816
|
0.00003
|
NM_002471.4(MYH6):c.3077A>C (p.Lys1026Thr)
|
rs746844081
|
0.00003
|
NM_002471.4(MYH6):c.3142A>G (p.Met1048Val)
|
rs1184334975
|
0.00003
|
NM_002471.4(MYH6):c.329C>T (p.Ala110Val)
|
rs149454728
|
0.00003
|
NM_002471.4(MYH6):c.3448G>A (p.Glu1150Lys)
|
rs760399050
|
0.00003
|
NM_002471.4(MYH6):c.3500A>C (p.Lys1167Thr)
|
rs775248044
|
0.00003
|
NM_002471.4(MYH6):c.3583C>T (p.Arg1195Cys)
|
rs769756450
|
0.00003
|
NM_002471.4(MYH6):c.3872G>A (p.Arg1291Gln)
|
rs780178869
|
0.00003
|
NM_002471.4(MYH6):c.4141G>A (p.Ala1381Thr)
|
rs753774406
|
0.00003
|
NM_002471.4(MYH6):c.4168G>A (p.Glu1390Lys)
|
rs1475985417
|
0.00003
|
NM_002471.4(MYH6):c.4286A>T (p.Asp1429Val)
|
rs755434984
|
0.00003
|
NM_002471.4(MYH6):c.467C>G (p.Ser156Cys)
|
rs372298082
|
0.00003
|
NM_002471.4(MYH6):c.4704C>A (p.Asn1568Lys)
|
rs149771264
|
0.00003
|
NM_002471.4(MYH6):c.4721T>A (p.Ile1574Asn)
|
rs199627411
|
0.00003
|
NM_002471.4(MYH6):c.4750G>A (p.Glu1584Lys)
|
rs1280321639
|
0.00003
|
NM_002471.4(MYH6):c.4768C>A (p.Arg1590Ser)
|
rs544624250
|
0.00003
|
NM_002471.4(MYH6):c.4829G>A (p.Arg1610His)
|
rs758792342
|
0.00003
|
NM_002471.4(MYH6):c.4985C>T (p.Ala1662Val)
|
rs773445582
|
0.00003
|
NM_002471.4(MYH6):c.502+5G>A
|
rs764301017
|
0.00003
|
NM_002471.4(MYH6):c.5101C>T (p.Arg1701Trp)
|
rs765737102
|
0.00003
|
NM_002471.4(MYH6):c.5137G>A (p.Glu1713Lys)
|
rs369275573
|
0.00003
|
NM_002471.4(MYH6):c.5267A>G (p.Lys1756Arg)
|
rs746064687
|
0.00003
|
NM_002471.4(MYH6):c.5348G>A (p.Arg1783His)
|
rs745473249
|
0.00003
|
NM_002471.4(MYH6):c.5524A>G (p.Met1842Val)
|
rs754070802
|
0.00003
|
NM_002471.4(MYH6):c.5593C>T (p.Arg1865Trp)
|
rs759499155
|
0.00003
|
NM_002471.4(MYH6):c.5780G>T (p.Arg1927Leu)
|
rs730880152
|
0.00003
|
NM_002471.4(MYH6):c.635C>T (p.Ala212Val)
|
rs780456381
|
0.00003
|
NM_002474.3(MYH11):c.3824G>T (p.Arg1275Leu)
|
rs267606901
|
0.00003
|
NM_002474.3(MYH11):c.4372G>A (p.Ala1458Thr)
|
rs775154820
|
0.00003
|
NM_002474.3(MYH11):c.5596G>A (p.Glu1866Lys)
|
rs148743922
|
0.00003
|
NM_002667.5(PLN):c.26G>A (p.Arg9His)
|
rs754782171
|
0.00003
|
NM_002667.5(PLN):c.41G>T (p.Arg14Ile)
|
rs151112761
|
0.00003
|
NM_002667.5(PLN):c.53T>C (p.Ile18Thr)
|
rs1029766634
|
0.00003
|
NM_002834.5(PTPN11):c.1327C>T (p.His443Tyr)
|
rs779236638
|
0.00003
|
NM_002834.5(PTPN11):c.1642T>C (p.Ser548Pro)
|
rs1057517907
|
0.00003
|
NM_002834.5(PTPN11):c.794G>T (p.Arg265Leu)
|
rs376607329
|
0.00003
|
NM_002834.5(PTPN11):c.824A>C (p.Asn275Thr)
|
rs397507528
|
0.00003
|
NM_002880.4(RAF1):c.1879C>T (p.Arg627Trp)
|
rs730881005
|
0.00003
|
NM_002880.4(RAF1):c.428G>A (p.Arg143Gln)
|
rs750697353
|
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_003476.5(CSRP3):c.-3A>C
|
rs760384315
|
0.00003
|
NM_003476.5(CSRP3):c.140C>T (p.Thr47Met)
|
rs397516851
|
0.00003
|
NM_003476.5(CSRP3):c.214G>A (p.Gly72Arg)
|
rs45552933
|
0.00003
|
NM_003476.5(CSRP3):c.256G>A (p.Glu86Lys)
|
rs780917755
|
0.00003
|
NM_003476.5(CSRP3):c.287C>T (p.Pro96Leu)
|
rs766783066
|
0.00003
|
NM_003476.5(CSRP3):c.352G>A (p.Glu118Lys)
|
rs763096875
|
0.00003
|
NM_003476.5(CSRP3):c.568G>T (p.Val190Leu)
|
rs145073736
|
0.00003
|
NM_003480.4(MFAP5):c.157G>A (p.Ala53Thr)
|
rs576618912
|
0.00003
|
NM_003480.4(MFAP5):c.251G>A (p.Cys84Tyr)
|
rs747879550
|
0.00003
|
NM_003673.4(TCAP):c.208C>T (p.Arg70Trp)
|
rs775636212
|
0.00003
|
NM_003673.4(TCAP):c.70G>C (p.Glu24Gln)
|
rs993261985
|
0.00003
|
NM_003803.4(MYOM1):c.1067A>G (p.Asn356Ser)
|
rs773694035
|
0.00003
|
NM_003803.4(MYOM1):c.158C>T (p.Ala53Val)
|
rs747035411
|
0.00003
|
NM_003803.4(MYOM1):c.3038C>T (p.Ala1013Val)
|
rs557671408
|
0.00003
|
NM_004006.3(DMD):c.10951G>A (p.Asp3651Asn)
|
rs766599250
|
0.00003
|
NM_004006.3(DMD):c.10955C>G (p.Thr3652Arg)
|
rs1131691998
|
0.00003
|
NM_004006.3(DMD):c.1220T>C (p.Ile407Thr)
|
rs200637510
|
0.00003
|
NM_004006.3(DMD):c.1462C>T (p.Arg488Cys)
|
rs758932385
|
0.00003
|
NM_004006.3(DMD):c.1586T>C (p.Leu529Ser)
|
rs889238270
|
0.00003
|
NM_004006.3(DMD):c.1988C>T (p.Ala663Val)
|
rs41309715
|
0.00003
|
NM_004006.3(DMD):c.2249T>C (p.Phe750Ser)
|
rs377539940
|
0.00003
|
NM_004006.3(DMD):c.2323A>G (p.Arg775Gly)
|
rs886038905
|
0.00003
|
NM_004006.3(DMD):c.2518C>G (p.Gln840Glu)
|
rs398123892
|
0.00003
|
NM_004006.3(DMD):c.3028G>C (p.Ala1010Pro)
|
rs766325631
|
0.00003
|
NM_004006.3(DMD):c.3175A>G (p.Thr1059Ala)
|
rs763548540
|
0.00003
|
NM_004006.3(DMD):c.4046C>G (p.Ser1349Cys)
|
rs763514033
|
0.00003
|
NM_004006.3(DMD):c.4049G>A (p.Arg1350His)
|
rs750981128
|
0.00003
|
NM_004006.3(DMD):c.404A>G (p.Asn135Ser)
|
rs764808552
|
0.00003
|
NM_004006.3(DMD):c.4283A>G (p.Lys1428Arg)
|
rs371585389
|
0.00003
|
NM_004006.3(DMD):c.4483C>G (p.Gln1495Glu)
|
rs748769566
|
0.00003
|
NM_004006.3(DMD):c.4563G>A (p.Met1521Ile)
|
rs138984555
|
0.00003
|
NM_004006.3(DMD):c.5405A>G (p.Gln1802Arg)
|
rs893536407
|
0.00003
|
NM_004006.3(DMD):c.5740-5A>G
|
rs202014758
|
0.00003
|
NM_004006.3(DMD):c.6212G>A (p.Arg2071Lys)
|
rs774825173
|
0.00003
|
NM_004006.3(DMD):c.6323G>A (p.Arg2108His)
|
rs1291065884
|
0.00003
|
NM_004006.3(DMD):c.732C>T (p.Ser244=)
|
rs756282849
|
0.00003
|
NM_004006.3(DMD):c.7722G>C (p.Gln2574His)
|
rs368164231
|
0.00003
|
NM_004006.3(DMD):c.8234T>C (p.Ile2745Thr)
|
rs367735348
|
0.00003
|
NM_004006.3(DMD):c.8677C>T (p.Pro2893Ser)
|
rs756160145
|
0.00003
|
NM_004006.3(DMD):c.8828C>T (p.Thr2943Met)
|
rs751810893
|
0.00003
|
NM_004006.3(DMD):c.8895T>A (p.Asp2965Glu)
|
rs781748062
|
0.00003
|
NM_004100.5(EYA4):c.1523G>C (p.Arg508Thr)
|
rs543789215
|
0.00003
|
NM_004100.5(EYA4):c.16G>A (p.Asp6Asn)
|
rs1253239225
|
0.00003
|
NM_004100.5(EYA4):c.824C>G (p.Ala275Gly)
|
rs748654006
|
0.00003
|
NM_004100.5(EYA4):c.848A>G (p.Gln283Arg)
|
rs376151731
|
0.00003
|
NM_004100.5(EYA4):c.860C>T (p.Ala287Val)
|
rs374522988
|
0.00003
|
NM_004100.5(EYA4):c.973G>A (p.Glu325Lys)
|
rs1003638503
|
0.00003
|
NM_004281.4(BAG3):c.1028G>C (p.Arg343Pro)
|
rs774085746
|
0.00003
|
NM_004281.4(BAG3):c.1264G>A (p.Val422Met)
|
rs371476147
|
0.00003
|
NM_004281.4(BAG3):c.509G>A (p.Arg170Gln)
|
rs140904592
|
0.00003
|
NM_004281.4(BAG3):c.781C>T (p.Arg261Trp)
|
rs548032105
|
0.00003
|
NM_004281.4(BAG3):c.854C>T (p.Thr285Met)
|
rs375650805
|
0.00003
|
NM_004281.4(BAG3):c.961C>T (p.Pro321Ser)
|
rs376832654
|
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.809G>A (p.Cys270Tyr)
|
rs587782931
|
0.00003
|
NM_004387.4(NKX2-5):c.827C>G (p.Ala276Gly)
|
rs751564052
|
0.00003
|
NM_004415.4(DSP):c.1103T>C (p.Ile368Thr)
|
rs141163578
|
0.00003
|
NM_004415.4(DSP):c.2038G>A (p.Glu680Lys)
|
rs1186943530
|
0.00003
|
NM_004415.4(DSP):c.2047G>A (p.Glu683Lys)
|
rs775181391
|
0.00003
|
NM_004415.4(DSP):c.2546A>G (p.Tyr849Cys)
|
rs778636665
|
0.00003
|
NM_004415.4(DSP):c.344A>G (p.Asn115Ser)
|
rs28763958
|
0.00003
|
NM_004415.4(DSP):c.3551G>A (p.Arg1184Gln)
|
rs147909031
|
0.00003
|
NM_004415.4(DSP):c.3760G>A (p.Val1254Ile)
|
rs778448699
|
0.00003
|
NM_004415.4(DSP):c.4105G>A (p.Glu1369Lys)
|
rs141805096
|
0.00003
|
NM_004415.4(DSP):c.4387G>A (p.Val1463Ile)
|
rs948230523
|
0.00003
|
NM_004415.4(DSP):c.4573A>G (p.Ile1525Val)
|
rs145796901
|
0.00003
|
NM_004415.4(DSP):c.484C>T (p.Arg162Cys)
|
rs760711308
|
0.00003
|
NM_004415.4(DSP):c.5066T>C (p.Ile1689Thr)
|
rs869025394
|
0.00003
|
NM_004415.4(DSP):c.55C>A (p.Arg19Ser)
|
rs777340009
|
0.00003
|
NM_004415.4(DSP):c.578G>T (p.Gly193Val)
|
rs750350474
|
0.00003
|
NM_004415.4(DSP):c.5827A>G (p.Arg1943Gly)
|
rs140663822
|
0.00003
|
NM_004415.4(DSP):c.6062C>G (p.Ala2021Gly)
|
rs760673242
|
0.00003
|
NM_004415.4(DSP):c.6187C>G (p.Arg2063Gly)
|
rs374090050
|
0.00003
|
NM_004415.4(DSP):c.6248G>A (p.Arg2083His)
|
rs574637009
|
0.00003
|
NM_004415.4(DSP):c.665G>A (p.Arg222Gln)
|
rs377749481
|
0.00003
|
NM_004415.4(DSP):c.8401C>G (p.Arg2801Gly)
|
rs760215987
|
0.00003
|
NM_004415.4(DSP):c.997A>G (p.Ser333Gly)
|
rs773685575
|
0.00003
|
NM_004588.5(SCN2B):c.118G>A (p.Val40Ile)
|
rs200761835
|
0.00003
|
NM_004588.5(SCN2B):c.410G>A (p.Arg137His)
|
rs878854712
|
0.00003
|
NM_005120.3(MED12):c.6326A>C (p.Gln2109Pro)
|
rs755793630
|
0.00003
|
NM_005188.4(CBL):c.1703C>T (p.Thr568Ile)
|
rs762016318
|
0.00003
|
NM_005188.4(CBL):c.2666A>G (p.Lys889Arg)
|
rs1369884955
|
0.00003
|
NM_005343.4(HRAS):c.505C>T (p.Arg169Trp)
|
rs151229168
|
0.00003
|
NM_005472.5(KCNE3):c.304A>G (p.Met102Val)
|
rs556647231
|
0.00003
|
NM_005472.5(KCNE3):c.95G>A (p.Arg32Gln)
|
rs745645715
|
0.00003
|
NM_005477.3(HCN4):c.1005G>A (p.Met335Ile)
|
rs758797709
|
0.00003
|
NM_005477.3(HCN4):c.1915G>A (p.Val639Met)
|
rs563194186
|
0.00003
|
NM_005477.3(HCN4):c.2028C>A (p.Asp676Glu)
|
rs1060500102
|
0.00003
|
NM_005477.3(HCN4):c.2801G>A (p.Arg934His)
|
rs369485237
|
0.00003
|
NM_005477.3(HCN4):c.2830G>A (p.Ala944Thr)
|
rs777648103
|
0.00003
|
NM_005477.3(HCN4):c.2839G>A (p.Gly947Arg)
|
rs753524680
|
0.00003
|
NM_005477.3(HCN4):c.2990C>A (p.Pro997His)
|
rs375788137
|
0.00003
|
NM_005477.3(HCN4):c.3229G>A (p.Gly1077Ser)
|
rs746291340
|
0.00003
|
NM_005477.3(HCN4):c.3293C>T (p.Ala1098Val)
|
rs1064797200
|
0.00003
|
NM_005477.3(HCN4):c.3371G>A (p.Gly1124Asp)
|
rs981056449
|
0.00003
|
NM_005477.3(HCN4):c.3379G>A (p.Gly1127Arg)
|
rs748279911
|
0.00003
|
NM_005633.4(SOS1):c.1558G>A (p.Asp520Asn)
|
rs754115060
|
0.00003
|
NM_005633.4(SOS1):c.1672A>G (p.Met558Val)
|
rs371295853
|
0.00003
|
NM_005633.4(SOS1):c.1988T>C (p.Ile663Thr)
|
rs1048869073
|
0.00003
|
NM_005633.4(SOS1):c.3703C>T (p.Pro1235Ser)
|
rs397517168
|
0.00003
|
NM_005633.4(SOS1):c.3802G>A (p.Gly1268Ser)
|
rs730881051
|
0.00003
|
NM_005633.4(SOS1):c.3806C>G (p.Thr1269Arg)
|
rs370528448
|
0.00003
|
NM_005633.4(SOS1):c.599C>G (p.Thr200Ser)
|
rs143007609
|
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.1682C>T (p.Ala561Val)
|
rs149162273
|
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.3083G>A (p.Ser1028Asn)
|
rs551552300
|
0.00003
|
NM_005751.5(AKAP9):c.3932T>A (p.Met1311Lys)
|
rs776582090
|
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.4927A>G (p.Ile1643Val)
|
rs141990258
|
0.00003
|
NM_005751.5(AKAP9):c.5368+4C>T
|
rs759286117
|
0.00003
|
NM_005751.5(AKAP9):c.5639G>A (p.Arg1880His)
|
rs770002854
|
0.00003
|
NM_005751.5(AKAP9):c.752T>G (p.Leu251Arg)
|
rs748330070
|
0.00003
|
NM_005751.5(AKAP9):c.7775T>A (p.Leu2592Gln)
|
rs754011064
|
0.00003
|
NM_005751.5(AKAP9):c.8074G>A (p.Glu2692Lys)
|
rs749538379
|
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.9830T>C (p.Ile3277Thr)
|
rs144021475
|
0.00003
|
NM_005751.5(AKAP9):c.9886T>A (p.Leu3296Ile)
|
rs369263681
|
0.00003
|
NM_006073.4(TRDN):c.1019A>G (p.Glu340Gly)
|
rs745751151
|
0.00003
|
NM_006073.4(TRDN):c.1420+1G>T
|
rs1375657667
|
0.00003
|
NM_006073.4(TRDN):c.1601T>G (p.Ile534Arg)
|
rs926868398
|
0.00003
|
NM_006073.4(TRDN):c.1651A>G (p.Thr551Ala)
|
rs1304157111
|
0.00003
|
NM_006073.4(TRDN):c.1708A>G (p.Ile570Val)
|
rs915231524
|
0.00003
|
NM_006073.4(TRDN):c.1733C>A (p.Pro578Gln)
|
rs761240477
|
0.00003
|
NM_006073.4(TRDN):c.1783G>A (p.Asp595Asn)
|
rs771170294
|
0.00003
|
NM_006073.4(TRDN):c.196G>T (p.Val66Phe)
|
rs372169818
|
0.00003
|
NM_006073.4(TRDN):c.2143A>G (p.Ser715Gly)
|
rs768748530
|
0.00003
|
NM_006073.4(TRDN):c.32C>T (p.Ser11Phe)
|
rs760549842
|
0.00003
|
NM_006073.4(TRDN):c.46G>C (p.Val16Leu)
|
rs974343553
|
0.00003
|
NM_006440.5(TXNRD2):c.1446G>T (p.Lys482Asn)
|
rs371797598
|
0.00003
|
NM_006440.5(TXNRD2):c.1474C>T (p.Arg492Trp)
|
rs146133764
|
0.00003
|
NM_006440.5(TXNRD2):c.1535G>A (p.Arg512His)
|
rs375708279
|
0.00003
|
NM_006440.5(TXNRD2):c.544G>A (p.Asp182Asn)
|
rs752857898
|
0.00003
|
NM_006440.5(TXNRD2):c.758T>C (p.Leu253Pro)
|
rs773449032
|
0.00003
|
NM_006514.4(SCN10A):c.1196C>T (p.Ala399Val)
|
rs371834396
|
0.00003
|
NM_006514.4(SCN10A):c.1454G>A (p.Arg485His)
|
rs746690639
|
0.00003
|
NM_006514.4(SCN10A):c.1486A>G (p.Lys496Glu)
|
rs755100226
|
0.00003
|
NM_006514.4(SCN10A):c.1534C>T (p.Arg512Ter)
|
rs200714519
|
0.00003
|
NM_006514.4(SCN10A):c.1788G>T (p.Leu596Phe)
|
rs764965507
|
0.00003
|
NM_006514.4(SCN10A):c.2282T>C (p.Leu761Pro)
|
rs139988577
|
0.00003
|
NM_006514.4(SCN10A):c.2367C>A (p.Asn789Lys)
|
rs770046573
|
0.00003
|
NM_006514.4(SCN10A):c.2465C>T (p.Ala822Val)
|
rs747839312
|
0.00003
|
NM_006514.4(SCN10A):c.2485C>T (p.Arg829Cys)
|
rs755974168
|
0.00003
|
NM_006514.4(SCN10A):c.2615C>T (p.Thr872Met)
|
rs757355631
|
0.00003
|
NM_006514.4(SCN10A):c.2747G>A (p.Arg916Gln)
|
rs267599804
|
0.00003
|
NM_006514.4(SCN10A):c.3061C>T (p.Gln1021Ter)
|
rs751252167
|
0.00003
|
NM_006514.4(SCN10A):c.323G>A (p.Arg108Gln)
|
rs141278729
|
0.00003
|
NM_006514.4(SCN10A):c.3778G>T (p.Ala1260Ser)
|
rs779316495
|
0.00003
|
NM_006514.4(SCN10A):c.4112A>G (p.Asp1371Gly)
|
rs376193439
|
0.00003
|
NM_006514.4(SCN10A):c.4164G>A (p.Trp1388Ter)
|
rs756253735
|
0.00003
|
NM_006514.4(SCN10A):c.4294G>A (p.Asp1432Asn)
|
rs760268052
|
0.00003
|
NM_006514.4(SCN10A):c.4573A>G (p.Met1525Val)
|
rs373085099
|
0.00003
|
NM_006514.4(SCN10A):c.4857C>A (p.Phe1619Leu)
|
rs767025015
|
0.00003
|
NM_006514.4(SCN10A):c.4915G>A (p.Asp1639Asn)
|
rs368582725
|
0.00003
|
NM_006514.4(SCN10A):c.4976C>T (p.Thr1659Met)
|
rs200761212
|
0.00003
|
NM_006514.4(SCN10A):c.5093G>T (p.Gly1698Val)
|
rs201985536
|
0.00003
|
NM_006514.4(SCN10A):c.621T>A (p.Asp207Glu)
|
rs377716847
|
0.00003
|
NM_006514.4(SCN10A):c.955T>A (p.Cys319Ser)
|
rs199715855
|
0.00003
|
NM_006939.4(SOS2):c.1264G>A (p.Glu422Lys)
|
rs375244948
|
0.00003
|
NM_006939.4(SOS2):c.260T>C (p.Ile87Thr)
|
rs747274422
|
0.00003
|
NM_006939.4(SOS2):c.2978A>T (p.Asn993Ile)
|
rs776000121
|
0.00003
|
NM_006939.4(SOS2):c.3814C>T (p.Arg1272Cys)
|
rs1005498417
|
0.00003
|
NM_007078.3(LDB3):c.1165G>A (p.Ala389Thr)
|
rs924634578
|
0.00003
|
NM_007078.3(LDB3):c.1453G>T (p.Ala485Ser)
|
rs397517214
|
0.00003
|
NM_007078.3(LDB3):c.160G>A (p.Gly54Ser)
|
rs201786090
|
0.00003
|
NM_007078.3(LDB3):c.2050G>A (p.Glu684Lys)
|
rs754552434
|
0.00003
|
NM_007078.3(LDB3):c.398C>T (p.Pro133Leu)
|
rs200239096
|
0.00003
|
NM_007078.3(LDB3):c.428G>A (p.Ser143Asn)
|
rs201773873
|
0.00003
|
NM_007078.3(LDB3):c.724G>A (p.Ala242Thr)
|
rs759790522
|
0.00003
|
NM_007078.3(LDB3):c.905T>C (p.Ile302Thr)
|
rs777489502
|
0.00003
|
NM_007373.4(SHOC2):c.-1C>T
|
rs398124252
|
0.00003
|
NM_007373.4(SHOC2):c.170C>T (p.Ser57Phe)
|
rs536611911
|
0.00003
|
NM_012186.3(FOXE3):c.625G>C (p.Gly209Arg)
|
rs1226906213
|
0.00003
|
NM_012186.3(FOXE3):c.629C>G (p.Pro210Arg)
|
rs780276474
|
0.00003
|
NM_014000.3(VCL):c.1015C>T (p.Arg339Cys)
|
rs759961842
|
0.00003
|
NM_014000.3(VCL):c.1039C>T (p.Pro347Ser)
|
rs566961713
|
0.00003
|
NM_014000.3(VCL):c.1040C>T (p.Pro347Leu)
|
rs148619523
|
0.00003
|
NM_014000.3(VCL):c.1247G>A (p.Arg416Gln)
|
rs758811315
|
0.00003
|
NM_014000.3(VCL):c.1352+5G>A
|
rs374522164
|
0.00003
|
NM_014000.3(VCL):c.1917G>T (p.Lys639Asn)
|
rs915381122
|
0.00003
|
NM_014000.3(VCL):c.1940C>T (p.Ala647Val)
|
rs534449109
|
0.00003
|
NM_014000.3(VCL):c.2006G>A (p.Arg669Gln)
|
rs759771302
|
0.00003
|
NM_014000.3(VCL):c.2875A>C (p.Asn959His)
|
rs758969419
|
0.00003
|
NM_014000.3(VCL):c.3267G>C (p.Glu1089Asp)
|
rs149300310
|
0.00003
|
NM_014391.3(ANKRD1):c.131A>G (p.Asp44Gly)
|
rs749040843
|
0.00003
|
NM_014391.3(ANKRD1):c.154C>G (p.Pro52Ala)
|
rs397517248
|
0.00003
|
NM_014391.3(ANKRD1):c.27+1G>T
|
rs779910001
|
0.00003
|
NM_014391.3(ANKRD1):c.328C>T (p.Pro110Ser)
|
rs200061926
|
0.00003
|
NM_014391.3(ANKRD1):c.388G>T (p.Glu130Ter)
|
rs1048316962
|
0.00003
|
NM_014391.3(ANKRD1):c.776C>T (p.Ala259Val)
|
rs866604612
|
0.00003
|
NM_014391.3(ANKRD1):c.905T>C (p.Ile302Thr)
|
rs765966193
|
0.00003
|
NM_014391.3(ANKRD1):c.944G>C (p.Arg315Pro)
|
rs746392266
|
0.00003
|
NM_014908.4(DOLK):c.1000A>T (p.Thr334Ser)
|
rs762835635
|
0.00003
|
NM_014908.4(DOLK):c.1262T>C (p.Leu421Pro)
|
rs145125254
|
0.00003
|
NM_014908.4(DOLK):c.412A>G (p.Thr138Ala)
|
rs933514904
|
0.00003
|
NM_015141.4(GPD1L):c.11C>T (p.Ala4Val)
|
rs201152084
|
0.00003
|
NM_015141.4(GPD1L):c.547C>G (p.Leu183Val)
|
rs1376727184
|
0.00003
|
NM_015141.4(GPD1L):c.775G>A (p.Gly259Arg)
|
rs146477959
|
0.00003
|
NM_015627.3(LDLRAP1):c.811G>A (p.Val271Ile)
|
rs367832795
|
0.00003
|
NM_016599.5(MYOZ2):c.19A>G (p.Met7Val)
|
rs746027670
|
0.00003
|
NM_016938.5(EFEMP2):c.1010G>A (p.Arg337Gln)
|
rs755197148
|
0.00003
|
NM_016938.5(EFEMP2):c.1306G>A (p.Val436Ile)
|
rs774228818
|
0.00003
|
NM_016938.5(EFEMP2):c.433G>A (p.Gly145Ser)
|
rs369601362
|
0.00003
|
NM_016938.5(EFEMP2):c.565G>A (p.Glu189Lys)
|
rs148940436
|
0.00003
|
NM_017617.5(NOTCH1):c.6130G>A (p.Ala2044Thr)
|
rs544856644
|
0.00003
|
NM_017636.4(TRPM4):c.121C>T (p.Arg41Trp)
|
rs1028746202
|
0.00003
|
NM_017636.4(TRPM4):c.1412C>T (p.Ser471Leu)
|
rs772271815
|
0.00003
|
NM_017636.4(TRPM4):c.2129T>G (p.Phe710Cys)
|
rs1177273600
|
0.00003
|
NM_017636.4(TRPM4):c.2778+1G>A
|
rs756554490
|
0.00003
|
NM_017636.4(TRPM4):c.3386A>T (p.Lys1129Met)
|
rs765449931
|
0.00003
|
NM_017636.4(TRPM4):c.3434C>G (p.Ser1145Cys)
|
rs375682523
|
0.00003
|
NM_017636.4(TRPM4):c.3443T>C (p.Leu1148Pro)
|
rs748665739
|
0.00003
|
NM_017636.4(TRPM4):c.3512G>A (p.Arg1171His)
|
rs762615860
|
0.00003
|
NM_017636.4(TRPM4):c.3563G>T (p.Trp1188Leu)
|
rs1064796865
|
0.00003
|
NM_017946.4(FKBP14):c.92T>C (p.Val31Ala)
|
rs372805238
|
0.00003
|
NM_020297.4(ABCC9):c.1329G>A (p.Met443Ile)
|
rs151197166
|
0.00003
|
NM_020297.4(ABCC9):c.2312C>T (p.Thr771Ile)
|
rs180739851
|
0.00003
|
NM_020297.4(ABCC9):c.2857G>A (p.Glu953Lys)
|
rs143685061
|
0.00003
|
NM_020297.4(ABCC9):c.2932C>A (p.Pro978Thr)
|
rs376874273
|
0.00003
|
NM_020297.4(ABCC9):c.2983A>G (p.Ile995Val)
|
rs374500043
|
0.00003
|
NM_020297.4(ABCC9):c.4512+693G>A
|
rs876657737
|
0.00003
|
NM_020433.5(JPH2):c.1180G>A (p.Ala394Thr)
|
rs372515066
|
0.00003
|
NM_020433.5(JPH2):c.1363C>T (p.Arg455Trp)
|
rs767514641
|
0.00003
|
NM_020433.5(JPH2):c.1577C>T (p.Pro526Leu)
|
rs756327822
|
0.00003
|
NM_020433.5(JPH2):c.1640C>T (p.Ala547Val)
|
rs772283505
|
0.00003
|
NM_020433.5(JPH2):c.1720A>G (p.Thr574Ala)
|
rs773306912
|
0.00003
|
NM_020433.5(JPH2):c.1858G>A (p.Ala620Thr)
|
rs769284597
|
0.00003
|
NM_020433.5(JPH2):c.1867G>C (p.Glu623Gln)
|
rs750828996
|
0.00003
|
NM_020433.5(JPH2):c.457G>A (p.Val153Met)
|
rs747722861
|
0.00003
|
NM_020433.5(JPH2):c.77A>G (p.His26Arg)
|
rs141664528
|
0.00003
|
NM_020433.5(JPH2):c.8G>A (p.Gly3Glu)
|
rs746138065
|
0.00003
|
NM_020433.5(JPH2):c.943G>A (p.Glu315Lys)
|
rs768672949
|
0.00003
|
NM_020778.4(ALPK3):c.314C>T (p.Thr105Met)
|
rs1280728775
|
0.00003
|
NM_020778.5(ALPK3):c.1279A>T (p.Arg427Trp)
|
rs771706498
|
0.00003
|
NM_020778.5(ALPK3):c.1709A>T (p.Asp570Val)
|
rs200724501
|
0.00003
|
NM_020778.5(ALPK3):c.1828G>A (p.Val610Met)
|
rs374911318
|
0.00003
|
NM_020778.5(ALPK3):c.2498A>G (p.Asp833Gly)
|
rs761421251
|
0.00003
|
NM_020778.5(ALPK3):c.2615G>C (p.Gly872Ala)
|
rs779766656
|
0.00003
|
NM_020778.5(ALPK3):c.298G>A (p.Val100Ile)
|
rs535488179
|
0.00003
|
NM_020778.5(ALPK3):c.3104G>A (p.Cys1035Tyr)
|
rs758388457
|
0.00003
|
NM_020778.5(ALPK3):c.3169G>A (p.Ala1057Thr)
|
rs769870094
|
0.00003
|
NM_020778.5(ALPK3):c.3400G>A (p.Ala1134Thr)
|
rs761129046
|
0.00003
|
NM_020778.5(ALPK3):c.3454C>G (p.Pro1152Ala)
|
rs780056277
|
0.00003
|
NM_020778.5(ALPK3):c.3455C>T (p.Pro1152Leu)
|
rs772625009
|
0.00003
|
NM_020778.5(ALPK3):c.3488C>T (p.Ala1163Val)
|
rs755941827
|
0.00003
|
NM_020778.5(ALPK3):c.4224C>T (p.Ser1408=)
|
rs773522765
|
0.00003
|
NM_020778.5(ALPK3):c.4436G>A (p.Arg1479Gln)
|
rs759101150
|
0.00003
|
NM_020778.5(ALPK3):c.4723+5G>A
|
rs771461497
|
0.00003
|
NM_020778.5(ALPK3):c.4910C>G (p.Ala1637Gly)
|
rs769409719
|
0.00003
|
NM_020778.5(ALPK3):c.4920dup (p.Lys1641Ter)
|
rs1338612539
|
0.00003
|
NM_020778.5(ALPK3):c.716C>T (p.Thr239Ile)
|
rs559342068
|
0.00003
|
NM_020778.5(ALPK3):c.806T>C (p.Phe269Ser)
|
rs975857797
|
0.00003
|
NM_020778.5(ALPK3):c.895G>A (p.Ala299Thr)
|
rs115195927
|
0.00003
|
NM_021167.5(GATAD1):c.524A>G (p.Gln175Arg)
|
rs145592666
|
0.00003
|
NM_021167.5(GATAD1):c.539A>T (p.Glu180Val)
|
rs764831879
|
0.00003
|
NM_022436.3(ABCG5):c.1258G>A (p.Val420Ile)
|
rs747481748
|
0.00003
|
NM_022437.3(ABCG8):c.1852G>A (p.Gly618Arg)
|
rs200005264
|
0.00003
|
NM_022437.3(ABCG8):c.215A>T (p.Lys72Met)
|
rs766529813
|
0.00003
|
NM_022437.3(ABCG8):c.863C>T (p.Ser288Phe)
|
rs373586893
|
0.00003
|
NM_024301.5(FKRP):c.1439A>T (p.Asn480Ile)
|
rs369666163
|
0.00003
|
NM_024301.5(FKRP):c.323T>C (p.Leu108Pro)
|
rs936866997
|
0.00003
|
NM_024301.5(FKRP):c.43A>C (p.Thr15Pro)
|
rs886042998
|
0.00003
|
NM_024301.5(FKRP):c.446G>A (p.Arg149His)
|
rs1449983261
|
0.00003
|
NM_024301.5(FKRP):c.524T>C (p.Leu175Pro)
|
rs1318966349
|
0.00003
|
NM_024301.5(FKRP):c.68A>G (p.Tyr23Cys)
|
rs201951207
|
0.00003
|
NM_024301.5(FKRP):c.757G>T (p.Ala253Ser)
|
rs959679901
|
0.00003
|
NM_024334.3(TMEM43):c.1112A>G (p.Tyr371Cys)
|
rs752269639
|
0.00003
|
NM_024334.3(TMEM43):c.1114C>T (p.Arg372Ter)
|
rs773224617
|
0.00003
|
NM_024334.3(TMEM43):c.644A>C (p.His215Pro)
|
rs730880225
|
0.00003
|
NM_024334.3(TMEM43):c.748G>A (p.Gly250Ser)
|
rs371797765
|
0.00003
|
NM_024334.3(TMEM43):c.83G>A (p.Arg28Gln)
|
rs757651177
|
0.00003
|
NM_024334.3(TMEM43):c.980C>G (p.Thr327Arg)
|
rs368111230
|
0.00003
|
NM_024422.6(DSC2):c.1019C>A (p.Thr340Asn)
|
rs757065157
|
0.00003
|
NM_024422.6(DSC2):c.1537G>T (p.Asp513Tyr)
|
rs373324195
|
0.00003
|
NM_024422.6(DSC2):c.2036A>G (p.His679Arg)
|
rs145710244
|
0.00003
|
NM_024422.6(DSC2):c.321G>T (p.Lys107Asn)
|
rs140856220
|
0.00003
|
NM_024422.6(DSC2):c.395G>A (p.Arg132His)
|
rs375410133
|
0.00003
|
NM_024422.6(DSC2):c.595C>T (p.Arg199Cys)
|
rs769787593
|
0.00003
|
NM_024422.6(DSC2):c.818C>T (p.Pro273Leu)
|
rs864622708
|
0.00003
|
NM_024422.6(DSC2):c.841A>G (p.Lys281Glu)
|
rs373697870
|
0.00003
|
NM_030662.4(MAP2K2):c.217G>A (p.Glu73Lys)
|
rs187018595
|
0.00003
|
NM_030662.4(MAP2K2):c.527C>T (p.Ala176Val)
|
rs775661458
|
0.00003
|
NM_032578.4(MYPN):c.1013G>A (p.Arg338His)
|
rs149852773
|
0.00003
|
NM_032578.4(MYPN):c.1564G>A (p.Gly522Ser)
|
rs951303629
|
0.00003
|
NM_032578.4(MYPN):c.1724A>G (p.Lys575Arg)
|
rs1346961662
|
0.00003
|
NM_032578.4(MYPN):c.194C>T (p.Ala65Val)
|
rs147553723
|
0.00003
|
NM_032578.4(MYPN):c.2150C>T (p.Thr717Met)
|
rs141276802
|
0.00003
|
NM_032578.4(MYPN):c.2164C>T (p.Arg722Trp)
|
rs749716608
|
0.00003
|
NM_032578.4(MYPN):c.2644G>A (p.Ala882Thr)
|
rs199476411
|
0.00003
|
NM_032578.4(MYPN):c.2654G>A (p.Arg885Gln)
|
rs370657396
|
0.00003
|
NM_032578.4(MYPN):c.2881C>G (p.Pro961Ala)
|
rs139996402
|
0.00003
|
NM_032578.4(MYPN):c.2972A>G (p.His991Arg)
|
rs181021602
|
0.00003
|
NM_032578.4(MYPN):c.3125G>A (p.Arg1042His)
|
rs140439935
|
0.00003
|
NM_032578.4(MYPN):c.3653G>A (p.Arg1218Lys)
|
rs768630077
|
0.00003
|
NM_032578.4(MYPN):c.3837C>T (p.Pro1279=)
|
rs774279751
|
0.00003
|
NM_032578.4(MYPN):c.3935G>A (p.Arg1312Gln)
|
rs761812034
|
0.00003
|
NM_032578.4(MYPN):c.410G>C (p.Arg137Thr)
|
rs765931465
|
0.00003
|
NM_032578.4(MYPN):c.890C>T (p.Pro297Leu)
|
rs138187845
|
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_130468.4(CHST14):c.239G>A (p.Gly80Asp)
|
rs371189136
|
0.00003
|
NM_144573.4(NEXN):c.1662A>G (p.Lys554=)
|
rs752270974
|
0.00003
|
NM_144573.4(NEXN):c.1733G>C (p.Arg578Thr)
|
rs374878979
|
0.00003
|
NM_144573.4(NEXN):c.1894G>C (p.Glu632Gln)
|
rs370965740
|
0.00003
|
NM_144573.4(NEXN):c.379C>T (p.Arg127Cys)
|
rs771113424
|
0.00003
|
NM_144573.4(NEXN):c.422G>A (p.Arg141His)
|
rs761451693
|
0.00003
|
NM_144573.4(NEXN):c.634T>A (p.Tyr212Asn)
|
rs769549962
|
0.00003
|
NM_144573.4(NEXN):c.817C>T (p.Arg273Cys)
|
rs757571525
|
0.00003
|
NM_144573.4(NEXN):c.914A>G (p.Tyr305Cys)
|
rs541547470
|
0.00003
|
NM_152594.3(SPRED1):c.-2A>T
|
rs773950720
|
0.00003
|
NM_170707.4(LMNA):c.1001G>A (p.Ser334Asn)
|
rs370656306
|
0.00003
|
NM_170707.4(LMNA):c.1007G>A (p.Arg336Gln)
|
rs58105277
|
0.00003
|
NM_170707.4(LMNA):c.1256G>A (p.Arg419His)
|
rs777648901
|
0.00003
|
NM_170707.4(LMNA):c.1324G>A (p.Val442Met)
|
rs368542816
|
0.00003
|
NM_170707.4(LMNA):c.1517A>C (p.His506Pro)
|
rs878855233
|
0.00003
|
NM_170707.4(LMNA):c.1756G>A (p.Val586Met)
|
rs758048062
|
0.00003
|
NM_174934.4(SCN4B):c.199C>T (p.Arg67Trp)
|
rs775614261
|
0.00003
|
NM_174936.4(PCSK9):c.1756A>G (p.Asn586Asp)
|
rs146035580
|
0.00003
|
NM_174936.4(PCSK9):c.278G>A (p.Arg93His)
|
rs763855534
|
0.00003
|
NM_181486.4(TBX5):c.1064G>A (p.Arg355His)
|
rs145784562
|
0.00003
|
NM_181486.4(TBX5):c.293C>T (p.Thr98Met)
|
rs772844823
|
0.00003
|
NM_201596.3(CACNB2):c.1580A>C (p.Lys527Thr)
|
rs771565696
|
0.00003
|
NM_201596.3(CACNB2):c.1841G>A (p.Arg614Gln)
|
rs367619172
|
0.00003
|
NM_201596.3(CACNB2):c.544A>G (p.Met182Val)
|
rs775466397
|
0.00003
|
NM_000020.3(ACVRL1):c.208G>A (p.Gly70Arg)
|
rs1439294840
|
0.00002
|
NM_000039.3(APOA1):c.127G>A (p.Val43Met)
|
rs373545875
|
0.00002
|
NM_000039.3(APOA1):c.236C>T (p.Ser79Phe)
|
rs1490305966
|
0.00002
|
NM_000039.3(APOA1):c.41C>T (p.Thr14Met)
|
rs778560581
|
0.00002
|
NM_000088.4(COL1A1):c.1793G>A (p.Arg598Gln)
|
rs757147791
|
0.00002
|
NM_000088.4(COL1A1):c.3680G>A (p.Arg1227His)
|
rs543809032
|
0.00002
|
NM_000089.4(COL1A2):c.1404+4A>C
|
rs369907691
|
0.00002
|
NM_000089.4(COL1A2):c.2330G>A (p.Arg777His)
|
rs746187799
|
0.00002
|
NM_000089.4(COL1A2):c.2753A>G (p.Asn918Ser)
|
rs201052196
|
0.00002
|
NM_000089.4(COL1A2):c.2959G>A (p.Val987Ile)
|
rs752207083
|
0.00002
|
NM_000090.4(COL3A1):c.4073G>A (p.Arg1358Gln)
|
rs745656610
|
0.00002
|
NM_000116.5(TAFAZZIN):c.13G>T (p.Val5Leu)
|
rs397515737
|
0.00002
|
NM_000116.5(TAFAZZIN):c.331C>T (p.His111Tyr)
|
rs200405157
|
0.00002
|
NM_000116.5(TAFAZZIN):c.468C>T (p.Gly156=)
|
rs990648341
|
0.00002
|
NM_000116.5(TAFAZZIN):c.469G>A (p.Val157Ile)
|
rs782173851
|
0.00002
|
NM_000116.5(TAFAZZIN):c.779T>G (p.Val260Gly)
|
rs782746355
|
0.00002
|
NM_000117.3(EMD):c.148C>T (p.Pro50Ser)
|
rs781936763
|
0.00002
|
NM_000117.3(EMD):c.572T>C (p.Met191Thr)
|
rs782244432
|
0.00002
|
NM_000117.3(EMD):c.611G>A (p.Arg204His)
|
rs782642152
|
0.00002
|
NM_000138.5(FBN1):c.467A>G (p.Asn156Ser)
|
rs779490973
|
0.00002
|
NM_000152.5(GAA):c.1831G>A (p.Gly611Ser)
|
rs1278340100
|
0.00002
|
NM_000152.5(GAA):c.2164A>T (p.Thr722Ser)
|
rs774307734
|
0.00002
|
NM_000169.3(GLA):c.1181T>C (p.Leu394Pro)
|
rs886044779
|
0.00002
|
NM_000169.3(GLA):c.122C>G (p.Thr41Ser)
|
rs782362194
|
0.00002
|
NM_000169.3(GLA):c.192C>T (p.Ile64=)
|
rs1555987080
|
0.00002
|
NM_000169.3(GLA):c.196G>C (p.Glu66Gln)
|
rs104894833
|
0.00002
|
NM_000169.3(GLA):c.481G>A (p.Asp161Asn)
|
rs1386622522
|
0.00002
|
NM_000169.3(GLA):c.593T>C (p.Ile198Thr)
|
rs727503950
|
0.00002
|
NM_000169.3(GLA):c.991C>T (p.Leu331Phe)
|
rs730880437
|
0.00002
|
NM_000214.3(JAG1):c.1321G>A (p.Gly441Ser)
|
rs1327002160
|
0.00002
|
NM_000214.3(JAG1):c.1835A>G (p.Lys612Arg)
|
rs750855317
|
0.00002
|
NM_000214.3(JAG1):c.2042C>T (p.Thr681Met)
|
rs772675011
|
0.00002
|
NM_000214.3(JAG1):c.2087G>A (p.Gly696Glu)
|
rs780243244
|
0.00002
|
NM_000214.3(JAG1):c.2498C>T (p.Ala833Val)
|
rs141292792
|
0.00002
|
NM_000214.3(JAG1):c.34C>T (p.Arg12Cys)
|
rs1452242699
|
0.00002
|
NM_000214.3(JAG1):c.3542G>A (p.Arg1181Lys)
|
rs758788135
|
0.00002
|
NM_000218.3(KCNQ1):c.1252G>A (p.Val418Ile)
|
rs777347006
|
0.00002
|
NM_000218.3(KCNQ1):c.1621G>A (p.Val541Ile)
|
rs199472796
|
0.00002
|
NM_000218.3(KCNQ1):c.1726G>A (p.Val576Ile)
|
rs750409379
|
0.00002
|
NM_000218.3(KCNQ1):c.187C>T (p.Pro63Ser)
|
rs1280717988
|
0.00002
|
NM_000218.3(KCNQ1):c.1882G>A (p.Gly628Ser)
|
rs745990205
|
0.00002
|
NM_000218.3(KCNQ1):c.1892C>G (p.Pro631Arg)
|
rs1432436411
|
0.00002
|
NM_000218.3(KCNQ1):c.590C>T (p.Pro197Leu)
|
rs200108320
|
0.00002
|
NM_000218.3(KCNQ1):c.877C>T (p.Arg293Cys)
|
rs199472737
|
0.00002
|
NM_000218.3(KCNQ1):c.898G>A (p.Ala300Thr)
|
rs120074187
|
0.00002
|
NM_000219.6(KCNE1):c.142C>T (p.Leu48Phe)
|
rs75610894
|
0.00002
|
NM_000219.6(KCNE1):c.273C>G (p.Asp91Glu)
|
rs146614850
|
0.00002
|
NM_000219.6(KCNE1):c.314C>T (p.Ser105Leu)
|
rs780041404
|
0.00002
|
NM_000237.3(LPL):c.248C>T (p.Thr83Met)
|
rs372267210
|
0.00002
|
NM_000238.4(KCNH2):c.1189C>T (p.Arg397Cys)
|
rs1060500663
|
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.1742C>T (p.Ser581Leu)
|
rs794728483
|
0.00002
|
NM_000238.4(KCNH2):c.2383G>A (p.Val795Ile)
|
rs1002588450
|
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.3007G>A (p.Asp1003Asn)
|
rs794728402
|
0.00002
|
NM_000238.4(KCNH2):c.3049G>T (p.Ala1017Ser)
|
rs950543448
|
0.00002
|
NM_000238.4(KCNH2):c.3104G>A (p.Arg1035Gln)
|
rs761933920
|
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.398T>C (p.Met133Thr)
|
rs794728353
|
0.00002
|
NM_000238.4(KCNH2):c.580G>A (p.Val194Met)
|
rs1293129095
|
0.00002
|
NM_000238.4(KCNH2):c.983G>A (p.Arg328His)
|
rs747437736
|
0.00002
|
NM_000256.3(MYBPC3):c.1123G>A (p.Val375Met)
|
rs727503208
|
0.00002
|
NM_000256.3(MYBPC3):c.133G>A (p.Gly45Arg)
|
rs775837337
|
0.00002
|
NM_000256.3(MYBPC3):c.1351+4G>A
|
rs777487971
|
0.00002
|
NM_000256.3(MYBPC3):c.1454A>G (p.Lys485Arg)
|
rs1185871136
|
0.00002
|
NM_000256.3(MYBPC3):c.1616T>C (p.Ile539Thr)
|
rs1158024707
|
0.00002
|
NM_000256.3(MYBPC3):c.2003G>A (p.Arg668His)
|
rs727503191
|
0.00002
|
NM_000256.3(MYBPC3):c.2148+3G>A
|
rs368887584
|
0.00002
|
NM_000256.3(MYBPC3):c.2275G>A (p.Glu759Lys)
|
rs750810342
|
0.00002
|
NM_000256.3(MYBPC3):c.2500C>T (p.Arg834Trp)
|
rs752007810
|
0.00002
|
NM_000256.3(MYBPC3):c.2534G>A (p.Arg845His)
|
rs730880568
|
0.00002
|
NM_000256.3(MYBPC3):c.3064C>T (p.Arg1022Cys)
|
rs397515999
|
0.00002
|
NM_000256.3(MYBPC3):c.3103G>A (p.Ala1035Thr)
|
rs552505566
|
0.00002
|
NM_000256.3(MYBPC3):c.3170C>T (p.Thr1057Met)
|
rs754115924
|
0.00002
|
NM_000256.3(MYBPC3):c.3331G>A (p.Glu1111Lys)
|
rs1331702727
|
0.00002
|
NM_000256.3(MYBPC3):c.3361C>T (p.Arg1121Cys)
|
rs747738308
|
0.00002
|
NM_000256.3(MYBPC3):c.3683G>A (p.Arg1228His)
|
rs528940575
|
0.00002
|
NM_000256.3(MYBPC3):c.49C>T (p.Arg17Trp)
|
rs747857800
|
0.00002
|
NM_000256.3(MYBPC3):c.505G>A (p.Gly169Ser)
|
rs886039212
|
0.00002
|
NM_000256.3(MYBPC3):c.596T>C (p.Leu199Pro)
|
rs878853835
|
0.00002
|
NM_000256.3(MYBPC3):c.682G>A (p.Asp228Asn)
|
rs369300885
|
0.00002
|
NM_000256.3(MYBPC3):c.712C>T (p.Arg238Cys)
|
rs771143409
|
0.00002
|
NM_000256.3(MYBPC3):c.818G>A (p.Arg273His)
|
rs376461745
|
0.00002
|
NM_000257.4(MYH7):c.1046T>C (p.Met349Thr)
|
rs121913640
|
0.00002
|
NM_000257.4(MYH7):c.1334C>T (p.Ala445Val)
|
rs752349938
|
0.00002
|
NM_000257.4(MYH7):c.17T>C (p.Met6Thr)
|
rs779276614
|
0.00002
|
NM_000257.4(MYH7):c.2420G>A (p.Arg807His)
|
rs141414377
|
0.00002
|
NM_000257.4(MYH7):c.2916G>C (p.Glu972Asp)
|
rs141191984
|
0.00002
|
NM_000257.4(MYH7):c.3035C>A (p.Ala1012Asp)
|
rs779973529
|
0.00002
|
NM_000257.4(MYH7):c.3301G>A (p.Gly1101Ser)
|
rs367546859
|
0.00002
|
NM_000257.4(MYH7):c.3475G>A (p.Val1159Met)
|
rs730880776
|
0.00002
|
NM_000257.4(MYH7):c.3997C>G (p.Leu1333Val)
|
rs940589674
|
0.00002
|
NM_000257.4(MYH7):c.4031G>A (p.Arg1344Gln)
|
rs797045097
|
0.00002
|
NM_000257.4(MYH7):c.4076G>A (p.Arg1359His)
|
rs750836033
|
0.00002
|
NM_000257.4(MYH7):c.4170-5G>A
|
rs755468667
|
0.00002
|
NM_000257.4(MYH7):c.4499G>A (p.Arg1500Gln)
|
rs121913647
|
0.00002
|
NM_000257.4(MYH7):c.4831G>T (p.Ala1611Ser)
|
rs730880913
|
0.00002
|
NM_000257.4(MYH7):c.4996G>A (p.Asp1666Asn)
|
rs747993770
|
0.00002
|
NM_000257.4(MYH7):c.5013C>G (p.Ile1671Met)
|
rs779978846
|
0.00002
|
NM_000257.4(MYH7):c.5342G>A (p.Arg1781His)
|
rs397516246
|
0.00002
|
NM_000257.4(MYH7):c.5422G>A (p.Gly1808Ser)
|
rs369940645
|
0.00002
|
NM_000257.4(MYH7):c.5537G>A (p.Arg1846His)
|
rs757803046
|
0.00002
|
NM_000257.4(MYH7):c.5561C>T (p.Thr1854Met)
|
rs372381770
|
0.00002
|
NM_000257.4(MYH7):c.5704G>C (p.Glu1902Gln)
|
rs187073962
|
0.00002
|
NM_000257.4(MYH7):c.632C>T (p.Pro211Leu)
|
rs727503277
|
0.00002
|
NM_000257.4(MYH7):c.706G>A (p.Val236Ile)
|
rs397516261
|
0.00002
|
NM_000257.4(MYH7):c.733-3C>T
|
rs765068619
|
0.00002
|
NM_000257.4(MYH7):c.910A>T (p.Thr304Ser)
|
rs730880858
|
0.00002
|
NM_000258.3(MYL3):c.136T>C (p.Phe46Leu)
|
rs730880953
|
0.00002
|
NM_000258.3(MYL3):c.140C>T (p.Thr47Ile)
|
rs778515428
|
0.00002
|
NM_000258.3(MYL3):c.187C>T (p.Arg63Cys)
|
rs565312070
|
0.00002
|
NM_000258.3(MYL3):c.280C>T (p.Arg94Cys)
|
rs730880961
|
0.00002
|
NM_000258.3(MYL3):c.461G>A (p.Arg154His)
|
rs104893749
|
0.00002
|
NM_000258.3(MYL3):c.530A>G (p.Glu177Gly)
|
rs193922391
|
0.00002
|
NM_000258.3(MYL3):c.61C>T (p.Pro21Ser)
|
rs779557153
|
0.00002
|
NM_000335.5(SCN5A):c.1035C>T (p.Gly345=)
|
rs764026969
|
0.00002
|
NM_000335.5(SCN5A):c.1579G>A (p.Gly527Arg)
|
rs763550164
|
0.00002
|
NM_000335.5(SCN5A):c.157C>T (p.Arg53Trp)
|
rs878859550
|
0.00002
|
NM_000335.5(SCN5A):c.158G>A (p.Arg53Gln)
|
rs199473049
|
0.00002
|
NM_000335.5(SCN5A):c.1702C>T (p.Arg568Cys)
|
rs45600438
|
0.00002
|
NM_000335.5(SCN5A):c.1975C>T (p.Arg659Trp)
|
rs730880205
|
0.00002
|
NM_000335.5(SCN5A):c.2141T>C (p.Val714Ala)
|
rs759036311
|
0.00002
|
NM_000335.5(SCN5A):c.2182G>A (p.Val728Ile)
|
rs958480279
|
0.00002
|
NM_000335.5(SCN5A):c.2365G>A (p.Val789Ile)
|
rs199473159
|
0.00002
|
NM_000335.5(SCN5A):c.23G>A (p.Arg8Gln)
|
rs564261427
|
0.00002
|
NM_000335.5(SCN5A):c.280A>G (p.Ile94Val)
|
rs202114798
|
0.00002
|
NM_000335.5(SCN5A):c.3067C>T (p.Arg1023Cys)
|
rs745435760
|
0.00002
|
NM_000335.5(SCN5A):c.3121G>A (p.Asp1041Asn)
|
rs45491996
|
0.00002
|
NM_000335.5(SCN5A):c.328G>A (p.Ala110Thr)
|
rs730880202
|
0.00002
|
NM_000335.5(SCN5A):c.4168G>A (p.Gly1390Arg)
|
rs780405533
|
0.00002
|
NM_000335.5(SCN5A):c.41G>A (p.Arg14His)
|
rs1223977399
|
0.00002
|
NM_000335.5(SCN5A):c.4498C>G (p.Leu1500Val)
|
rs199473266
|
0.00002
|
NM_000335.5(SCN5A):c.4625T>C (p.Val1542Ala)
|
rs551383710
|
0.00002
|
NM_000335.5(SCN5A):c.5213G>A (p.Arg1738Gln)
|
rs200217157
|
0.00002
|
NM_000335.5(SCN5A):c.5326G>A (p.Val1776Met)
|
rs199473314
|
0.00002
|
NM_000335.5(SCN5A):c.5735G>A (p.Arg1912His)
|
rs199473327
|
0.00002
|
NM_000335.5(SCN5A):c.5783G>A (p.Arg1928His)
|
rs727504822
|
0.00002
|
NM_000335.5(SCN5A):c.6031C>T (p.Arg2011Cys)
|
rs199473640
|
0.00002
|
NM_000335.5(SCN5A):c.655C>T (p.Arg219Cys)
|
rs762012668
|
0.00002
|
NM_000363.5(TNNI3):c.143A>C (p.Gln48Pro)
|
rs200720341
|
0.00002
|
NM_000363.5(TNNI3):c.92C>T (p.Thr31Met)
|
rs201928445
|
0.00002
|
NM_000371.4(TTR):c.-1G>C
|
rs769343676
|
0.00002
|
NM_000371.4(TTR):c.-3A>G
|
rs745422404
|
0.00002
|
NM_000371.4(TTR):c.209G>A (p.Ser70Asn)
|
rs121918080
|
0.00002
|
NM_000371.4(TTR):c.439G>T (p.Glu147Ter)
|
rs730881162
|
0.00002
|
NM_000384.3(APOB):c.10475T>C (p.Ile3492Thr)
|
rs779283285
|
0.00002
|
NM_000384.3(APOB):c.1075A>G (p.Ser359Gly)
|
rs757383498
|
0.00002
|
NM_000384.3(APOB):c.11087T>C (p.Ile3696Thr)
|
rs370096275
|
0.00002
|
NM_000384.3(APOB):c.11243C>T (p.Thr3748Met)
|
rs774799606
|
0.00002
|
NM_000384.3(APOB):c.11441C>A (p.Thr3814Asn)
|
rs768822240
|
0.00002
|
NM_000384.3(APOB):c.1208C>T (p.Ala403Val)
|
rs753112806
|
0.00002
|
NM_000384.3(APOB):c.12779A>G (p.His4260Arg)
|
rs781061676
|
0.00002
|
NM_000384.3(APOB):c.12890G>A (p.Arg4297His)
|
rs375701380
|
0.00002
|
NM_000384.3(APOB):c.13130T>C (p.Ile4377Thr)
|
rs778174655
|
0.00002
|
NM_000384.3(APOB):c.1325T>G (p.Leu442Trp)
|
rs1377752682
|
0.00002
|
NM_000384.3(APOB):c.13463T>C (p.Ile4488Thr)
|
rs374389311
|
0.00002
|
NM_000384.3(APOB):c.13489T>C (p.Tyr4497His)
|
rs751629013
|
0.00002
|
NM_000384.3(APOB):c.1595G>A (p.Arg532Gln)
|
rs753831464
|
0.00002
|
NM_000384.3(APOB):c.2115T>G (p.Phe705Leu)
|
rs747520197
|
0.00002
|
NM_000384.3(APOB):c.2585T>C (p.Val862Ala)
|
rs145142090
|
0.00002
|
NM_000384.3(APOB):c.2593G>A (p.Glu865Lys)
|
rs150005693
|
0.00002
|
NM_000384.3(APOB):c.3271A>G (p.Arg1091Gly)
|
rs368122382
|
0.00002
|
NM_000384.3(APOB):c.3443T>A (p.Leu1148His)
|
rs531341535
|
0.00002
|
NM_000384.3(APOB):c.3590T>C (p.Leu1197Pro)
|
rs745670004
|
0.00002
|
NM_000384.3(APOB):c.4024A>G (p.Ile1342Val)
|
rs780328279
|
0.00002
|
NM_000384.3(APOB):c.4850G>A (p.Gly1617Glu)
|
rs146341569
|
0.00002
|
NM_000384.3(APOB):c.5189A>C (p.Lys1730Thr)
|
rs764322440
|
0.00002
|
NM_000384.3(APOB):c.538G>T (p.Asp180Tyr)
|
rs143959032
|
0.00002
|
NM_000384.3(APOB):c.544G>A (p.Val182Met)
|
rs769838164
|
0.00002
|
NM_000384.3(APOB):c.5580G>T (p.Gln1860His)
|
rs199585500
|
0.00002
|
NM_000384.3(APOB):c.5684T>C (p.Val1895Ala)
|
rs149162499
|
0.00002
|
NM_000384.3(APOB):c.5882G>A (p.Ser1961Asn)
|
rs974524838
|
0.00002
|
NM_000384.3(APOB):c.6001A>G (p.Thr2001Ala)
|
rs140327327
|
0.00002
|
NM_000384.3(APOB):c.6070A>G (p.Ile2024Val)
|
rs564588440
|
0.00002
|
NM_000384.3(APOB):c.6080C>A (p.Pro2027Gln)
|
rs892830346
|
0.00002
|
NM_000384.3(APOB):c.698G>A (p.Arg233His)
|
rs766724697
|
0.00002
|
NM_000384.3(APOB):c.7559G>A (p.Arg2520Gln)
|
rs199852015
|
0.00002
|
NM_000384.3(APOB):c.8368G>A (p.Ala2790Thr)
|
rs970988407
|
0.00002
|
NM_000384.3(APOB):c.8470C>G (p.Leu2824Val)
|
rs757424322
|
0.00002
|
NM_000432.4(MYL2):c.163G>T (p.Ala55Ser)
|
rs727504425
|
0.00002
|
NM_000432.4(MYL2):c.256T>C (p.Phe86Leu)
|
rs765287559
|
0.00002
|
NM_000432.4(MYL2):c.366G>T (p.Met122Ile)
|
rs374439285
|
0.00002
|
NM_000432.4(MYL2):c.380C>T (p.Ala127Val)
|
rs141878747
|
0.00002
|
NM_000432.4(MYL2):c.436G>A (p.Val146Met)
|
rs370075755
|
0.00002
|
NM_000527.5(LDLR):c.1066G>A (p.Asp356Asn)
|
rs767767730
|
0.00002
|
NM_000527.5(LDLR):c.1166C>T (p.Thr389Met)
|
rs149227308
|
0.00002
|
NM_000527.5(LDLR):c.1529C>T (p.Thr510Met)
|
rs755154048
|
0.00002
|
NM_000527.5(LDLR):c.1588T>G (p.Phe530Val)
|
rs875989924
|
0.00002
|
NM_000527.5(LDLR):c.1733T>C (p.Val578Ala)
|
rs72658864
|
0.00002
|
NM_000527.5(LDLR):c.1765G>A (p.Asp589Asn)
|
rs201971888
|
0.00002
|
NM_000527.5(LDLR):c.2301G>A (p.Met767Ile)
|
rs149237737
|
0.00002
|
NM_000527.5(LDLR):c.2552A>G (p.Gln851Arg)
|
rs372328061
|
0.00002
|
NM_000719.7(CACNA1C):c.1342G>A (p.Asp448Asn)
|
rs786205746
|
0.00002
|
NM_000719.7(CACNA1C):c.1723A>T (p.Met575Leu)
|
rs1157777158
|
0.00002
|
NM_000719.7(CACNA1C):c.2795T>C (p.Ile932Thr)
|
rs786205756
|
0.00002
|
NM_000719.7(CACNA1C):c.3424A>C (p.Ile1142Leu)
|
rs752247655
|
0.00002
|
NM_000719.7(CACNA1C):c.408C>T (p.Ala136=)
|
rs769295096
|
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.5065G>A (p.Ala1689Thr)
|
rs368700869
|
0.00002
|
NM_000719.7(CACNA1C):c.512C>T (p.Thr171Met)
|
rs199586997
|
0.00002
|
NM_000719.7(CACNA1C):c.5398C>T (p.Pro1800Ser)
|
rs921032597
|
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.5906T>C (p.Val1969Ala)
|
rs1298514198
|
0.00002
|
NM_000719.7(CACNA1C):c.5996C>T (p.Thr1999Ile)
|
rs532551057
|
0.00002
|
NM_000719.7(CACNA1C):c.70C>T (p.Arg24Cys)
|
rs773211348
|
0.00002
|
NM_000719.7(CACNA1C):c.989C>T (p.Thr330Met)
|
rs377345545
|
0.00002
|
NM_000722.4(CACNA2D1):c.688C>T (p.Pro230Ser)
|
rs1461155317
|
0.00002
|
NM_000784.4(CYP27A1):c.1494G>C (p.Lys498Asn)
|
rs377290147
|
0.00002
|
NM_000784.4(CYP27A1):c.563G>A (p.Arg188Gln)
|
rs754310499
|
0.00002
|
NM_000890.5(KCNJ5):c.1186G>A (p.Ala396Thr)
|
rs754816201
|
0.00002
|
NM_000890.5(KCNJ5):c.1190A>G (p.Glu397Gly)
|
rs780934792
|
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.449T>C (p.Ile150Thr)
|
rs1232257803
|
0.00002
|
NM_000891.3(KCNJ2):c.1165G>A (p.Asp389Asn)
|
rs140053197
|
0.00002
|
NM_001005242.3(PKP2):c.1127T>C (p.Phe376Ser)
|
rs56869013
|
0.00002
|
NM_001005242.3(PKP2):c.1183C>T (p.Arg395Cys)
|
rs761238380
|
0.00002
|
NM_001005242.3(PKP2):c.1322G>A (p.Arg441Gln)
|
rs753912985
|
0.00002
|
NM_001005242.3(PKP2):c.1379-1972G>A
|
rs779392697
|
0.00002
|
NM_001005242.3(PKP2):c.1610G>A (p.Gly537Glu)
|
rs866789949
|
0.00002
|
NM_001005242.3(PKP2):c.1820G>A (p.Arg607Gln)
|
rs763648594
|
0.00002
|
NM_001005242.3(PKP2):c.193G>T (p.Ala65Ser)
|
rs143323961
|
0.00002
|
NM_001005242.3(PKP2):c.1943A>G (p.Lys648Arg)
|
rs776915959
|
0.00002
|
NM_001005242.3(PKP2):c.1952G>A (p.Arg651His)
|
rs758813231
|
0.00002
|
NM_001005242.3(PKP2):c.2234T>C (p.Ile745Thr)
|
rs543233804
|
0.00002
|
NM_001005242.3(PKP2):c.2420C>T (p.Thr807Met)
|
rs146118033
|
0.00002
|
NM_001005242.3(PKP2):c.382G>A (p.Ala128Thr)
|
rs1193697338
|
0.00002
|
NM_001005242.3(PKP2):c.418T>A (p.Ser140Thr)
|
rs727503373
|
0.00002
|
NM_001005242.3(PKP2):c.587G>A (p.Arg196His)
|
rs146566525
|
0.00002
|
NM_001005242.3(PKP2):c.68G>A (p.Gly23Glu)
|
rs746530389
|
0.00002
|
NM_001005242.3(PKP2):c.976G>A (p.Ala326Thr)
|
rs148480056
|
0.00002
|
NM_001018005.2(TPM1):c.564-5A>G
|
rs550286836
|
0.00002
|
NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu)
|
rs730881151
|
0.00002
|
NM_001035.3(RYR2):c.10360C>T (p.Arg3454Cys)
|
rs773252606
|
0.00002
|
NM_001035.3(RYR2):c.10517G>A (p.Arg3506Gln)
|
rs748805290
|
0.00002
|
NM_001035.3(RYR2):c.10708C>T (p.Arg3570Trp)
|
rs765835441
|
0.00002
|
NM_001035.3(RYR2):c.1166G>A (p.Arg389His)
|
rs200685968
|
0.00002
|
NM_001035.3(RYR2):c.12091A>G (p.Thr4031Ala)
|
rs755148895
|
0.00002
|
NM_001035.3(RYR2):c.12160A>G (p.Ser4054Gly)
|
rs376781046
|
0.00002
|
NM_001035.3(RYR2):c.13195A>G (p.Asn4399Asp)
|
rs764884250
|
0.00002
|
NM_001035.3(RYR2):c.13563+4C>T
|
rs926460699
|
0.00002
|
NM_001035.3(RYR2):c.13712C>T (p.Thr4571Met)
|
rs200803276
|
0.00002
|
NM_001035.3(RYR2):c.1476+3C>T
|
rs1387762631
|
0.00002
|
NM_001035.3(RYR2):c.1675A>G (p.Ile559Val)
|
rs773609522
|
0.00002
|
NM_001035.3(RYR2):c.2506C>A (p.His836Asn)
|
rs760544949
|
0.00002
|
NM_001035.3(RYR2):c.2615T>C (p.Ile872Thr)
|
rs749607906
|
0.00002
|
NM_001035.3(RYR2):c.3163C>T (p.Arg1055Cys)
|
rs754181384
|
0.00002
|
NM_001035.3(RYR2):c.322G>A (p.Gly108Ser)
|
rs1431073529
|
0.00002
|
NM_001035.3(RYR2):c.3484G>A (p.Val1162Met)
|
rs377030538
|
0.00002
|
NM_001035.3(RYR2):c.36G>C (p.Gln12His)
|
rs746811389
|
0.00002
|
NM_001035.3(RYR2):c.4148G>A (p.Arg1383His)
|
rs752124839
|
0.00002
|
NM_001035.3(RYR2):c.4161-5T>C
|
rs1416816823
|
0.00002
|
NM_001035.3(RYR2):c.4489G>A (p.Gly1497Arg)
|
rs748678280
|
0.00002
|
NM_001035.3(RYR2):c.458C>T (p.Thr153Ile)
|
rs766802574
|
0.00002
|
NM_001035.3(RYR2):c.4603C>T (p.Pro1535Ser)
|
rs1376021262
|
0.00002
|
NM_001035.3(RYR2):c.4733C>G (p.Pro1578Arg)
|
rs765351308
|
0.00002
|
NM_001035.3(RYR2):c.5096G>A (p.Arg1699His)
|
rs779464111
|
0.00002
|
NM_001035.3(RYR2):c.5509G>A (p.Glu1837Lys)
|
rs749184443
|
0.00002
|
NM_001035.3(RYR2):c.556G>A (p.Val186Met)
|
rs201211033
|
0.00002
|
NM_001035.3(RYR2):c.5917A>G (p.Ile1973Val)
|
rs780681855
|
0.00002
|
NM_001035.3(RYR2):c.6013A>G (p.Thr2005Ala)
|
rs373235823
|
0.00002
|
NM_001035.3(RYR2):c.6284T>C (p.Ile2095Thr)
|
rs142498105
|
0.00002
|
NM_001035.3(RYR2):c.7063G>A (p.Glu2355Lys)
|
rs754990305
|
0.00002
|
NM_001035.3(RYR2):c.7315G>A (p.Ala2439Thr)
|
rs367818536
|
0.00002
|
NM_001035.3(RYR2):c.7458T>G (p.His2486Gln)
|
rs377763795
|
0.00002
|
NM_001035.3(RYR2):c.782A>G (p.His261Arg)
|
rs577416427
|
0.00002
|
NM_001035.3(RYR2):c.8130T>G (p.Asn2710Lys)
|
rs876661388
|
0.00002
|
NM_001035.3(RYR2):c.8205C>A (p.Asp2735Glu)
|
rs794728823
|
0.00002
|
NM_001035.3(RYR2):c.8357G>C (p.Gly2786Ala)
|
rs1060500149
|
0.00002
|
NM_001035.3(RYR2):c.8398C>G (p.Leu2800Val)
|
rs1060500143
|
0.00002
|
NM_001035.3(RYR2):c.8407C>T (p.Arg2803Trp)
|
rs754674622
|
0.00002
|
NM_001035.3(RYR2):c.8449G>A (p.Ala2817Thr)
|
rs527576067
|
0.00002
|
NM_001035.3(RYR2):c.8749A>G (p.Ile2917Val)
|
rs981753891
|
0.00002
|
NM_001035.3(RYR2):c.9085A>G (p.Ile3029Val)
|
rs370141970
|
0.00002
|
NM_001035.3(RYR2):c.9094T>G (p.Cys3032Gly)
|
rs193007458
|
0.00002
|
NM_001035.3(RYR2):c.9442G>A (p.Val3148Met)
|
rs876657994
|
0.00002
|
NM_001035.3(RYR2):c.9561G>C (p.Lys3187Asn)
|
rs1060500168
|
0.00002
|
NM_001035.3(RYR2):c.9673G>A (p.Gly3225Ser)
|
rs780484631
|
0.00002
|
NM_001037.5(SCN1B):c.472G>C (p.Val158Leu)
|
rs138450474
|
0.00002
|
NM_001037.5(SCN1B):c.590C>T (p.Ala197Val)
|
rs554201948
|
0.00002
|
NM_001037.5(SCN1B):c.623A>T (p.Lys208Ile)
|
rs780958012
|
0.00002
|
NM_001037.5(SCN1B):c.638G>A (p.Gly213Asp)
|
rs201209882
|
0.00002
|
NM_001040151.2(SCN3B):c.232C>T (p.Arg78Trp)
|
rs764587765
|
0.00002
|
NM_001040151.2(SCN3B):c.233G>A (p.Arg78Gln)
|
rs375545539
|
0.00002
|
NM_001040151.2(SCN3B):c.394C>T (p.Arg132Trp)
|
rs371558196
|
0.00002
|
NM_001040151.2(SCN3B):c.55+3A>G
|
rs767074394
|
0.00002
|
NM_001040151.2(SCN3B):c.59G>A (p.Ser20Asn)
|
rs779277447
|
0.00002
|
NM_001040151.2(SCN3B):c.614A>G (p.Asn205Ser)
|
rs781244975
|
0.00002
|
NM_001077653.2(TBX20):c.971T>C (p.Leu324Ser)
|
rs1434256200
|
0.00002
|
NM_001079802.2(FKTN):c.1046T>C (p.Val349Ala)
|
rs539089647
|
0.00002
|
NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys)
|
rs119464998
|
0.00002
|
NM_001079802.2(FKTN):c.188T>C (p.Met63Thr)
|
rs772840681
|
0.00002
|
NM_001103.4(ACTN2):c.1046A>T (p.Gln349Leu)
|
rs376335356
|
0.00002
|
NM_001103.4(ACTN2):c.1081A>G (p.Met361Val)
|
rs368409665
|
0.00002
|
NM_001103.4(ACTN2):c.1108-3C>T
|
rs372488913
|
0.00002
|
NM_001103.4(ACTN2):c.1172A>G (p.Asn391Ser)
|
rs547711260
|
0.00002
|
NM_001103.4(ACTN2):c.1594A>T (p.Met532Leu)
|
rs200969588
|
0.00002
|
NM_001103.4(ACTN2):c.1708G>A (p.Gly570Arg)
|
rs373132971
|
0.00002
|
NM_001103.4(ACTN2):c.1822C>T (p.Arg608Trp)
|
rs397516571
|
0.00002
|
NM_001103.4(ACTN2):c.1918C>T (p.Arg640Cys)
|
rs769453411
|
0.00002
|
NM_001103.4(ACTN2):c.2108A>T (p.Gln703Leu)
|
rs370862426
|
0.00002
|
NM_001103.4(ACTN2):c.2138C>T (p.Thr713Met)
|
rs764538888
|
0.00002
|
NM_001103.4(ACTN2):c.2154+4C>T
|
rs1342624709
|
0.00002
|
NM_001103.4(ACTN2):c.2154+5G>A
|
rs767655336
|
0.00002
|
NM_001103.4(ACTN2):c.2231C>T (p.Thr744Met)
|
rs765747662
|
0.00002
|
NM_001103.4(ACTN2):c.2377G>A (p.Glu793Lys)
|
rs145450474
|
0.00002
|
NM_001103.4(ACTN2):c.265C>T (p.Arg89Trp)
|
rs369629689
|
0.00002
|
NM_001103.4(ACTN2):c.419G>A (p.Arg140His)
|
rs370689695
|
0.00002
|
NM_001103.4(ACTN2):c.59T>C (p.Met20Thr)
|
rs776456711
|
0.00002
|
NM_001103.4(ACTN2):c.646A>G (p.Met216Val)
|
rs749019847
|
0.00002
|
NM_001103.4(ACTN2):c.703G>A (p.Val235Met)
|
rs754929573
|
0.00002
|
NM_001103.4(ACTN2):c.745G>A (p.Val249Ile)
|
rs771260546
|
0.00002
|
NM_001103.4(ACTN2):c.767T>C (p.Phe256Ser)
|
rs1337069615
|
0.00002
|
NM_001103.4(ACTN2):c.895C>T (p.Arg299Cys)
|
rs779109533
|
0.00002
|
NM_001103.4(ACTN2):c.920G>A (p.Arg307Gln)
|
rs112882610
|
0.00002
|
NM_001103.4(ACTN2):c.979C>T (p.Arg327Cys)
|
rs769485633
|
0.00002
|
NM_001105206.3(LAMA4):c.1077+4C>T
|
rs1192025877
|
0.00002
|
NM_001105206.3(LAMA4):c.1813A>G (p.Ser605Gly)
|
rs112884471
|
0.00002
|
NM_001105206.3(LAMA4):c.1961C>T (p.Ala654Val)
|
rs782806847
|
0.00002
|
NM_001105206.3(LAMA4):c.2054C>T (p.Ser685Phe)
|
rs369776441
|
0.00002
|
NM_001105206.3(LAMA4):c.2225A>G (p.Asn742Ser)
|
rs374279330
|
0.00002
|
NM_001105206.3(LAMA4):c.247G>A (p.Asp83Asn)
|
rs531319918
|
0.00002
|
NM_001105206.3(LAMA4):c.2603C>G (p.Pro868Arg)
|
rs368543835
|
0.00002
|
NM_001105206.3(LAMA4):c.2906A>G (p.Asp969Gly)
|
rs1554332964
|
0.00002
|
NM_001105206.3(LAMA4):c.3238C>T (p.Arg1080Ter)
|
rs372615994
|
0.00002
|
NM_001105206.3(LAMA4):c.3277A>G (p.Asn1093Asp)
|
rs782550866
|
0.00002
|
NM_001105206.3(LAMA4):c.3436G>A (p.Asp1146Asn)
|
rs782492885
|
0.00002
|
NM_001105206.3(LAMA4):c.3506C>T (p.Pro1169Leu)
|
rs730880123
|
0.00002
|
NM_001105206.3(LAMA4):c.3557+4A>G
|
rs781832125
|
0.00002
|
NM_001105206.3(LAMA4):c.4134-1G>A
|
rs886039116
|
0.00002
|
NM_001105206.3(LAMA4):c.4972G>A (p.Val1658Met)
|
rs149555058
|
0.00002
|
NM_001105206.3(LAMA4):c.5440G>A (p.Ala1814Thr)
|
rs1048588170
|
0.00002
|
NM_001114753.3(ENG):c.338G>A (p.Gly113Glu)
|
rs1169024767
|
0.00002
|
NM_001134363.3(RBM20):c.1201G>A (p.Asp401Asn)
|
rs950210735
|
0.00002
|
NM_001134363.3(RBM20):c.1338-1G>T
|
rs1265727354
|
0.00002
|
NM_001134363.3(RBM20):c.1459G>A (p.Val487Met)
|
rs397516595
|
0.00002
|
NM_001134363.3(RBM20):c.1748G>A (p.Gly583Asp)
|
rs767827357
|
0.00002
|
NM_001134363.3(RBM20):c.2062C>T (p.Arg688Ter)
|
rs794729150
|
0.00002
|
NM_001134363.3(RBM20):c.2107A>G (p.Arg703Gly)
|
rs899167549
|
0.00002
|
NM_001134363.3(RBM20):c.2225C>G (p.Ser742Cys)
|
rs985340296
|
0.00002
|
NM_001134363.3(RBM20):c.2263C>T (p.Arg755Cys)
|
rs770910910
|
0.00002
|
NM_001134363.3(RBM20):c.2968A>G (p.Ser990Gly)
|
rs1353948871
|
0.00002
|
NM_001134363.3(RBM20):c.3046G>A (p.Gly1016Ser)
|
rs794729156
|
0.00002
|
NM_001134363.3(RBM20):c.3185T>C (p.Phe1062Ser)
|
rs1479765434
|
0.00002
|
NM_001134363.3(RBM20):c.3463G>A (p.Val1155Met)
|
rs1473408518
|
0.00002
|
NM_001134363.3(RBM20):c.3464T>C (p.Val1155Ala)
|
rs794729158
|
0.00002
|
NM_001134363.3(RBM20):c.36C>A (p.Asp12Glu)
|
rs573426783
|
0.00002
|
NM_001134363.3(RBM20):c.419C>T (p.Pro140Leu)
|
rs977645949
|
0.00002
|
NM_001134363.3(RBM20):c.487C>T (p.Arg163Trp)
|
rs1458326422
|
0.00002
|
NM_001134363.3(RBM20):c.83G>A (p.Gly28Asp)
|
rs1466787506
|
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.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.11717G>A (p.Arg3906Gln)
|
rs770001324
|
0.00002
|
NM_001148.6(ANK2):c.1613C>T (p.Ala538Val)
|
rs753139159
|
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.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.2479A>G (p.Ile827Val)
|
rs750428090
|
0.00002
|
NM_001148.6(ANK2):c.2557A>C (p.Thr853Pro)
|
rs1178600130
|
0.00002
|
NM_001148.6(ANK2):c.2969G>A (p.Arg990Gln)
|
rs373261456
|
0.00002
|
NM_001148.6(ANK2):c.2980C>A (p.Pro994Thr)
|
rs928622061
|
0.00002
|
NM_001148.6(ANK2):c.3373G>C (p.Asp1125His)
|
rs1043468981
|
0.00002
|
NM_001148.6(ANK2):c.3652C>T (p.Pro1218Ser)
|
rs754740031
|
0.00002
|
NM_001148.6(ANK2):c.3949G>A (p.Val1317Ile)
|
rs146261470
|
0.00002
|
NM_001148.6(ANK2):c.4252C>T (p.Arg1418Cys)
|
rs749093363
|
0.00002
|
NM_001148.6(ANK2):c.4618G>C (p.Ala1540Pro)
|
rs767390750
|
0.00002
|
NM_001148.6(ANK2):c.533C>T (p.Ala178Val)
|
rs901601971
|
0.00002
|
NM_001148.6(ANK2):c.5515A>C (p.Thr1839Pro)
|
rs763795429
|
0.00002
|
NM_001148.6(ANK2):c.5737C>T (p.Arg1913Cys)
|
rs147547363
|
0.00002
|
NM_001148.6(ANK2):c.6747C>A (p.Phe2249Leu)
|
rs2095685965
|
0.00002
|
NM_001148.6(ANK2):c.7142C>A (p.Ala2381Asp)
|
rs764841248
|
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.764G>A (p.Arg255Gln)
|
rs764008198
|
0.00002
|
NM_001148.6(ANK2):c.8551C>T (p.Pro2851Ser)
|
rs137856530
|
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_001159699.2(FHL1):c.247C>T (p.Arg83Cys)
|
rs1379221574
|
0.00002
|
NM_001159699.2(FHL1):c.644G>A (p.Arg215His)
|
rs886043053
|
0.00002
|
NM_001159699.2(FHL1):c.809A>G (p.Lys270Arg)
|
rs768705041
|
0.00002
|
NM_001232.4(CASQ2):c.1046A>T (p.Asp349Val)
|
rs372865933
|
0.00002
|
NM_001232.4(CASQ2):c.234+2T>C
|
rs757789935
|
0.00002
|
NM_001232.4(CASQ2):c.44C>G (p.Ser15Cys)
|
rs185539994
|
0.00002
|
NM_001232.4(CASQ2):c.478C>T (p.Arg160Cys)
|
rs750680032
|
0.00002
|
NM_001232.4(CASQ2):c.479G>A (p.Arg160His)
|
rs372283956
|
0.00002
|
NM_001232.4(CASQ2):c.633G>T (p.Met211Ile)
|
rs377762175
|
0.00002
|
NM_001232.4(CASQ2):c.673A>G (p.Ile225Val)
|
rs774546117
|
0.00002
|
NM_001232.4(CASQ2):c.893A>G (p.Asn298Ser)
|
rs548536938
|
0.00002
|
NM_001267550.2(TTN):c.100117G>A (p.Gly33373Ser)
|
rs55880786
|
0.00002
|
NM_001267550.2(TTN):c.100859G>C (p.Ser33620Thr)
|
rs369261182
|
0.00002
|
NM_001267550.2(TTN):c.101159A>G (p.Lys33720Arg)
|
rs727503535
|
0.00002
|
NM_001267550.2(TTN):c.101536A>G (p.Met33846Val)
|
rs565546848
|
0.00002
|
NM_001267550.2(TTN):c.103939T>C (p.Tyr34647His)
|
rs561869617
|
0.00002
|
NM_001267550.2(TTN):c.104315A>G (p.Glu34772Gly)
|
rs766674127
|
0.00002
|
NM_001267550.2(TTN):c.104539T>C (p.Tyr34847His)
|
rs794729565
|
0.00002
|
NM_001267550.2(TTN):c.104648G>A (p.Arg34883His)
|
rs368063908
|
0.00002
|
NM_001267550.2(TTN):c.104914G>A (p.Glu34972Lys)
|
rs727504918
|
0.00002
|
NM_001267550.2(TTN):c.105227C>T (p.Ser35076Leu)
|
rs747940468
|
0.00002
|
NM_001267550.2(TTN):c.107517T>G (p.Ser35839Arg)
|
rs776981475
|
0.00002
|
NM_001267550.2(TTN):c.11567A>G (p.Asn3856Ser)
|
rs765523683
|
0.00002
|
NM_001267550.2(TTN):c.12743A>C (p.Gln4248Pro)
|
rs770583611
|
0.00002
|
NM_001267550.2(TTN):c.14306A>T (p.Glu4769Val)
|
rs763092484
|
0.00002
|
NM_001267550.2(TTN):c.2306T>C (p.Ile769Thr)
|
rs979110143
|
0.00002
|
NM_001267550.2(TTN):c.26377A>G (p.Thr8793Ala)
|
rs776154251
|
0.00002
|
NM_001267550.2(TTN):c.296-5C>T
|
rs374923808
|
0.00002
|
NM_001267550.2(TTN):c.2996G>A (p.Arg999His)
|
rs371757623
|
0.00002
|
NM_001267550.2(TTN):c.3899A>G (p.Tyr1300Cys)
|
rs188090472
|
0.00002
|
NM_001267550.2(TTN):c.3989G>A (p.Arg1330His)
|
rs761402128
|
0.00002
|
NM_001267550.2(TTN):c.42157G>A (p.Glu14053Lys)
|
rs759050071
|
0.00002
|
NM_001267550.2(TTN):c.42473C>T (p.Thr14158Ile)
|
rs373227762
|
0.00002
|
NM_001267550.2(TTN):c.427G>A (p.Glu143Lys)
|
rs754182768
|
0.00002
|
NM_001267550.2(TTN):c.43120A>G (p.Ile14374Val)
|
rs754227553
|
0.00002
|
NM_001267550.2(TTN):c.44530G>A (p.Ala14844Thr)
|
rs772053966
|
0.00002
|
NM_001267550.2(TTN):c.45725G>A (p.Arg15242Lys)
|
rs140795503
|
0.00002
|
NM_001267550.2(TTN):c.46409G>A (p.Arg15470His)
|
rs769044716
|
0.00002
|
NM_001267550.2(TTN):c.47429C>T (p.Thr15810Ile)
|
rs748816848
|
0.00002
|
NM_001267550.2(TTN):c.4889C>T (p.Ala1630Val)
|
rs371601918
|
0.00002
|
NM_001267550.2(TTN):c.49060C>T (p.Pro16354Ser)
|
rs747402071
|
0.00002
|
NM_001267550.2(TTN):c.49213G>A (p.Val16405Ile)
|
rs570644860
|
0.00002
|
NM_001267550.2(TTN):c.50151G>C (p.Glu16717Asp)
|
rs369623681
|
0.00002
|
NM_001267550.2(TTN):c.51500C>T (p.Thr17167Ile)
|
rs749322226
|
0.00002
|
NM_001267550.2(TTN):c.52406-2A>C
|
rs753798236
|
0.00002
|
NM_001267550.2(TTN):c.54142T>C (p.Ser18048Pro)
|
rs878999356
|
0.00002
|
NM_001267550.2(TTN):c.54578A>G (p.Asn18193Ser)
|
rs777505893
|
0.00002
|
NM_001267550.2(TTN):c.58137C>T (p.Cys19379=)
|
rs376310289
|
0.00002
|
NM_001267550.2(TTN):c.59876G>A (p.Arg19959His)
|
rs748120315
|
0.00002
|
NM_001267550.2(TTN):c.60491T>A (p.Val20164Glu)
|
rs794729467
|
0.00002
|
NM_001267550.2(TTN):c.60874T>C (p.Trp20292Arg)
|
rs748357485
|
0.00002
|
NM_001267550.2(TTN):c.61815A>G (p.Ile20605Met)
|
rs761374262
|
0.00002
|
NM_001267550.2(TTN):c.61825C>T (p.Arg20609Cys)
|
rs786205389
|
0.00002
|
NM_001267550.2(TTN):c.62651G>T (p.Cys20884Phe)
|
rs773806020
|
0.00002
|
NM_001267550.2(TTN):c.626C>T (p.Ser209Leu)
|
rs372632047
|
0.00002
|
NM_001267550.2(TTN):c.62995T>G (p.Phe20999Val)
|
rs568886353
|
0.00002
|
NM_001267550.2(TTN):c.63558G>A (p.Val21186=)
|
rs200261892
|
0.00002
|
NM_001267550.2(TTN):c.63896C>T (p.Thr21299Ile)
|
rs1031526299
|
0.00002
|
NM_001267550.2(TTN):c.64687C>G (p.Pro21563Ala)
|
rs72646860
|
0.00002
|
NM_001267550.2(TTN):c.64720G>A (p.Ala21574Thr)
|
rs578085621
|
0.00002
|
NM_001267550.2(TTN):c.64816G>C (p.Asp21606His)
|
rs751046367
|
0.00002
|
NM_001267550.2(TTN):c.65300T>C (p.Ile21767Thr)
|
rs762578274
|
0.00002
|
NM_001267550.2(TTN):c.65920A>G (p.Met21974Val)
|
rs370691527
|
0.00002
|
NM_001267550.2(TTN):c.66118G>A (p.Asp22040Asn)
|
rs560375322
|
0.00002
|
NM_001267550.2(TTN):c.66815T>C (p.Ile22272Thr)
|
rs773998250
|
0.00002
|
NM_001267550.2(TTN):c.66902A>G (p.Asn22301Ser)
|
rs772823241
|
0.00002
|
NM_001267550.2(TTN):c.66940G>T (p.Asp22314Tyr)
|
rs768380109
|
0.00002
|
NM_001267550.2(TTN):c.67318G>A (p.Gly22440Ser)
|
rs727503576
|
0.00002
|
NM_001267550.2(TTN):c.67496G>A (p.Arg22499Gln)
|
rs767993624
|
0.00002
|
NM_001267550.2(TTN):c.6773C>T (p.Ala2258Val)
|
rs72647881
|
0.00002
|
NM_001267550.2(TTN):c.67792A>C (p.Ser22598Arg)
|
rs775579156
|
0.00002
|
NM_001267550.2(TTN):c.68818G>A (p.Glu22940Lys)
|
rs1443126035
|
0.00002
|
NM_001267550.2(TTN):c.6923C>A (p.Ser2308Tyr)
|
rs577966527
|
0.00002
|
NM_001267550.2(TTN):c.6949C>T (p.Arg2317Cys)
|
rs750101152
|
0.00002
|
NM_001267550.2(TTN):c.70396C>T (p.Arg23466Cys)
|
rs749744742
|
0.00002
|
NM_001267550.2(TTN):c.70435C>T (p.Arg23479Trp)
|
rs760509116
|
0.00002
|
NM_001267550.2(TTN):c.70485A>T (p.Lys23495Asn)
|
rs1482776876
|
0.00002
|
NM_001267550.2(TTN):c.7057+2dup
|
rs765019023
|
0.00002
|
NM_001267550.2(TTN):c.71608G>A (p.Gly23870Ser)
|
rs727503564
|
0.00002
|
NM_001267550.2(TTN):c.71789A>T (p.Lys23930Ile)
|
rs752648041
|
0.00002
|
NM_001267550.2(TTN):c.71903A>C (p.Asn23968Thr)
|
rs769320596
|
0.00002
|
NM_001267550.2(TTN):c.74378C>T (p.Ser24793Leu)
|
rs766741890
|
0.00002
|
NM_001267550.2(TTN):c.74533A>C (p.Ile24845Leu)
|
rs1214451388
|
0.00002
|
NM_001267550.2(TTN):c.77470C>T (p.Arg25824Cys)
|
rs778684474
|
0.00002
|
NM_001267550.2(TTN):c.77471G>A (p.Arg25824His)
|
rs376051922
|
0.00002
|
NM_001267550.2(TTN):c.78286G>A (p.Glu26096Lys)
|
rs370515843
|
0.00002
|
NM_001267550.2(TTN):c.79103G>T (p.Gly26368Val)
|
rs371325635
|
0.00002
|
NM_001267550.2(TTN):c.79213G>A (p.Val26405Ile)
|
rs769972835
|
0.00002
|
NM_001267550.2(TTN):c.80858C>T (p.Thr26953Met)
|
rs377506142
|
0.00002
|
NM_001267550.2(TTN):c.81029T>C (p.Val27010Ala)
|
rs369235214
|
0.00002
|
NM_001267550.2(TTN):c.81911T>C (p.Ile27304Thr)
|
rs753976208
|
0.00002
|
NM_001267550.2(TTN):c.82583G>A (p.Arg27528Gln)
|
rs765230578
|
0.00002
|
NM_001267550.2(TTN):c.83198T>C (p.Ile27733Thr)
|
rs759928014
|
0.00002
|
NM_001267550.2(TTN):c.8374G>A (p.Val2792Met)
|
rs79645147
|
0.00002
|
NM_001267550.2(TTN):c.83785G>A (p.Gly27929Arg)
|
rs786205297
|
0.00002
|
NM_001267550.2(TTN):c.8509A>T (p.Ser2837Cys)
|
rs202024134
|
0.00002
|
NM_001267550.2(TTN):c.85268G>A (p.Arg28423Gln)
|
rs747851682
|
0.00002
|
NM_001267550.2(TTN):c.85309G>A (p.Gly28437Ser)
|
rs757770952
|
0.00002
|
NM_001267550.2(TTN):c.85315C>T (p.Arg28439Trp)
|
rs757653038
|
0.00002
|
NM_001267550.2(TTN):c.87041G>A (p.Arg29014Gln)
|
rs772536290
|
0.00002
|
NM_001267550.2(TTN):c.87341G>A (p.Arg29114Lys)
|
rs1253866874
|
0.00002
|
NM_001267550.2(TTN):c.88406C>T (p.Ala29469Val)
|
rs397517740
|
0.00002
|
NM_001267550.2(TTN):c.88819C>T (p.Arg29607Trp)
|
rs781330566
|
0.00002
|
NM_001267550.2(TTN):c.8902C>T (p.Pro2968Ser)
|
rs773875566
|
0.00002
|
NM_001267550.2(TTN):c.89735T>C (p.Leu29912Pro)
|
rs748326514
|
0.00002
|
NM_001267550.2(TTN):c.91304C>T (p.Thr30435Ile)
|
rs1060500591
|
0.00002
|
NM_001267550.2(TTN):c.9306-4A>G
|
rs757164431
|
0.00002
|
NM_001267550.2(TTN):c.93167G>A (p.Arg31056Gln)
|
rs201377736
|
0.00002
|
NM_001267550.2(TTN):c.93266G>A (p.Arg31089His)
|
rs367993101
|
0.00002
|
NM_001267550.2(TTN):c.9472G>T (p.Val3158Phe)
|
rs748114137
|
0.00002
|
NM_001267550.2(TTN):c.94817G>A (p.Arg31606Gln)
|
rs371840978
|
0.00002
|
NM_001267550.2(TTN):c.94828G>A (p.Ala31610Thr)
|
rs141357723
|
0.00002
|
NM_001267550.2(TTN):c.95415C>A (p.Phe31805Leu)
|
rs587780983
|
0.00002
|
NM_001267550.2(TTN):c.96604G>T (p.Val32202Leu)
|
rs755717335
|
0.00002
|
NM_001267550.2(TTN):c.98453G>A (p.Arg32818Lys)
|
rs794729551
|
0.00002
|
NM_001267550.2(TTN):c.98806C>T (p.Arg32936Cys)
|
rs764276622
|
0.00002
|
NM_001267550.2(TTN):c.99115C>G (p.Gln33039Glu)
|
rs775875875
|
0.00002
|
NM_001267550.2(TTN):c.99254G>A (p.Arg33085His)
|
rs777035261
|
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.40G>A (p.Glu14Lys)
|
rs772890125
|
0.00002
|
NM_001289808.2(CRYAB):c.301C>A (p.His101Asn)
|
rs1029108489
|
0.00002
|
NM_001289808.2(CRYAB):c.325-2A>G
|
rs202024436
|
0.00002
|
NM_001289808.2(CRYAB):c.373C>T (p.Pro125Ser)
|
rs374661019
|
0.00002
|
NM_001289808.2(CRYAB):c.85G>C (p.Gly29Arg)
|
rs148500053
|
0.00002
|
NM_001308093.3(GATA4):c.1070G>T (p.Ser357Ile)
|
rs1014543362
|
0.00002
|
NM_001308093.3(GATA4):c.298A>G (p.Thr100Ala)
|
rs891667879
|
0.00002
|
NM_001365276.2(TNXB):c.1252C>T (p.Arg418Cys)
|
rs570402166
|
0.00002
|
NM_001365276.2(TNXB):c.2135C>T (p.Pro712Leu)
|
rs766469380
|
0.00002
|
NM_001365276.2(TNXB):c.2703C>T (p.Gly901=)
|
rs759556629
|
0.00002
|
NM_001365276.2(TNXB):c.4021G>A (p.Glu1341Lys)
|
rs924349760
|
0.00002
|
NM_001365276.2(TNXB):c.5269G>A (p.Gly1757Ser)
|
rs747658329
|
0.00002
|
NM_001365276.2(TNXB):c.6722C>T (p.Pro2241Leu)
|
rs371038535
|
0.00002
|
NM_001365276.2(TNXB):c.8186A>G (p.Glu2729Gly)
|
rs749055881
|
0.00002
|
NM_001365276.2(TNXB):c.8631G>C (p.Gln2877His)
|
rs773612193
|
0.00002
|
NM_001365276.2(TNXB):c.8666G>A (p.Arg2889Gln)
|
rs768863607
|
0.00002
|
NM_001365276.2(TNXB):c.8966G>A (p.Arg2989Lys)
|
rs775312280
|
0.00002
|
NM_001365276.2(TNXB):c.9379A>G (p.Asn3127Asp)
|
rs763951482
|
0.00002
|
NM_001365276.2(TNXB):c.9458C>G (p.Pro3153Arg)
|
rs763407660
|
0.00002
|
NM_001365276.2(TNXB):c.9745G>A (p.Val3249Met)
|
rs376344484
|
0.00002
|
NM_001367624.2(ZNF469):c.10324A>G (p.Arg3442Gly)
|
rs950869305
|
0.00002
|
NM_001367624.2(ZNF469):c.10424G>A (p.Arg3475His)
|
rs994815851
|
0.00002
|
NM_001367624.2(ZNF469):c.10805C>T (p.Pro3602Leu)
|
rs764764326
|
0.00002
|
NM_001367624.2(ZNF469):c.11134G>A (p.Ala3712Thr)
|
rs759634111
|
0.00002
|
NM_001367624.2(ZNF469):c.11378C>T (p.Pro3793Leu)
|
rs1262682961
|
0.00002
|
NM_001367624.2(ZNF469):c.11645C>T (p.Pro3882Leu)
|
rs376013703
|
0.00002
|
NM_001367624.2(ZNF469):c.1475G>A (p.Arg492Gln)
|
rs919081661
|
0.00002
|
NM_001367624.2(ZNF469):c.3751G>A (p.Ala1251Thr)
|
rs768287765
|
0.00002
|
NM_001367624.2(ZNF469):c.4211C>T (p.Ala1404Val)
|
rs948990641
|
0.00002
|
NM_001367624.2(ZNF469):c.4427G>A (p.Arg1476Lys)
|
rs763632522
|
0.00002
|
NM_001367624.2(ZNF469):c.6046G>A (p.Ala2016Thr)
|
rs368679510
|
0.00002
|
NM_001367624.2(ZNF469):c.660G>C (p.Gln220His)
|
rs965207266
|
0.00002
|
NM_001367624.2(ZNF469):c.7444C>T (p.Arg2482Cys)
|
rs1002940022
|
0.00002
|
NM_001367624.2(ZNF469):c.8993G>A (p.Arg2998Gln)
|
rs1165825244
|
0.00002
|
NM_001367624.2(ZNF469):c.9019G>A (p.Asp3007Asn)
|
rs886881362
|
0.00002
|
NM_001367624.2(ZNF469):c.9032C>T (p.Ser3011Phe)
|
rs866656179
|
0.00002
|
NM_001367624.2(ZNF469):c.9320C>T (p.Pro3107Leu)
|
rs1208219883
|
0.00002
|
NM_001378454.1(ALMS1):c.10550A>G (p.His3517Arg)
|
rs753393562
|
0.00002
|
NM_001378454.1(ALMS1):c.10630A>G (p.Arg3544Gly)
|
rs773075850
|
0.00002
|
NM_001378454.1(ALMS1):c.10817G>A (p.Arg3606Gln)
|
rs148044176
|
0.00002
|
NM_001378454.1(ALMS1):c.10832A>G (p.Gln3611Arg)
|
rs45452795
|
0.00002
|
NM_001378454.1(ALMS1):c.1153A>G (p.Ser385Gly)
|
rs761174114
|
0.00002
|
NM_001378454.1(ALMS1):c.12040C>T (p.Arg4014Trp)
|
rs543346172
|
0.00002
|
NM_001378454.1(ALMS1):c.12137C>A (p.Pro4046His)
|
rs751862434
|
0.00002
|
NM_001378454.1(ALMS1):c.12274C>T (p.Arg4092Cys)
|
rs774888526
|
0.00002
|
NM_001378454.1(ALMS1):c.12376C>T (p.Leu4126Phe)
|
rs746923966
|
0.00002
|
NM_001378454.1(ALMS1):c.12442C>T (p.Arg4148Ter)
|
rs192496253
|
0.00002
|
NM_001378454.1(ALMS1):c.1651A>T (p.Thr551Ser)
|
rs1271418277
|
0.00002
|
NM_001378454.1(ALMS1):c.176A>T (p.His59Leu)
|
rs772683919
|
0.00002
|
NM_001378454.1(ALMS1):c.2293T>C (p.Ser765Pro)
|
rs373936479
|
0.00002
|
NM_001378454.1(ALMS1):c.2420C>G (p.Pro807Arg)
|
rs372717861
|
0.00002
|
NM_001378454.1(ALMS1):c.2686C>G (p.Gln896Glu)
|
rs376834704
|
0.00002
|
NM_001378454.1(ALMS1):c.3318C>G (p.Phe1106Leu)
|
rs1044966122
|
0.00002
|
NM_001378454.1(ALMS1):c.3493C>T (p.Pro1165Ser)
|
rs767103091
|
0.00002
|
NM_001378454.1(ALMS1):c.3545C>T (p.Thr1182Ile)
|
rs778965893
|
0.00002
|
NM_001378454.1(ALMS1):c.3604T>C (p.Tyr1202His)
|
rs766931841
|
0.00002
|
NM_001378454.1(ALMS1):c.4123A>G (p.Thr1375Ala)
|
rs760866713
|
0.00002
|
NM_001378454.1(ALMS1):c.460T>A (p.Ser154Thr)
|
rs767106643
|
0.00002
|
NM_001378454.1(ALMS1):c.5194A>T (p.Thr1732Ser)
|
rs370735089
|
0.00002
|
NM_001378454.1(ALMS1):c.5694T>A (p.Asn1898Lys)
|
rs1317035563
|
0.00002
|
NM_001378454.1(ALMS1):c.5860G>A (p.Glu1954Lys)
|
rs1313974028
|
0.00002
|
NM_001378454.1(ALMS1):c.6833A>G (p.Asn2278Ser)
|
rs767464740
|
0.00002
|
NM_001378454.1(ALMS1):c.7033C>T (p.Arg2345Trp)
|
rs776611154
|
0.00002
|
NM_001378454.1(ALMS1):c.8012C>T (p.Pro2671Leu)
|
rs996036496
|
0.00002
|
NM_001378454.1(ALMS1):c.8626C>A (p.Leu2876Ile)
|
rs1447116062
|
0.00002
|
NM_001378454.1(ALMS1):c.8720C>G (p.Ser2907Cys)
|
rs747291259
|
0.00002
|
NM_001378454.1(ALMS1):c.872G>C (p.Ser291Thr)
|
rs568470985
|
0.00002
|
NM_001378454.1(ALMS1):c.8861A>G (p.Asp2954Gly)
|
rs751940353
|
0.00002
|
NM_001378454.1(ALMS1):c.8882C>T (p.Pro2961Leu)
|
rs781477502
|
0.00002
|
NM_001378454.1(ALMS1):c.9055G>A (p.Val3019Met)
|
rs773897748
|
0.00002
|
NM_001378454.1(ALMS1):c.9722C>A (p.Pro3241His)
|
rs770579229
|
0.00002
|
NM_001378969.1(KCND3):c.1256G>A (p.Arg419His)
|
rs774338559
|
0.00002
|
NM_001378969.1(KCND3):c.1519-5C>T
|
rs376408039
|
0.00002
|
NM_001378969.1(KCND3):c.514G>A (p.Ala172Thr)
|
rs149488365
|
0.00002
|
NM_001379200.1(TBX1):c.1253A>G (p.Glu418Gly)
|
rs745858331
|
0.00002
|
NM_001379200.1(TBX1):c.1346G>A (p.Gly449Asp)
|
rs1177085596
|
0.00002
|
NM_001379200.1(TBX1):c.1462T>C (p.Tyr488His)
|
rs746250147
|
0.00002
|
NM_001379200.1(TBX1):c.1508C>G (p.Pro503Arg)
|
rs756769832
|
0.00002
|
NM_001458.5(FLNC):c.1001G>A (p.Arg334His)
|
rs779347920
|
0.00002
|
NM_001458.5(FLNC):c.1141C>T (p.Arg381Cys)
|
rs770692923
|
0.00002
|
NM_001458.5(FLNC):c.1208C>T (p.Ala403Val)
|
rs777199447
|
0.00002
|
NM_001458.5(FLNC):c.1258C>T (p.Arg420Trp)
|
rs766755439
|
0.00002
|
NM_001458.5(FLNC):c.1309C>T (p.Arg437Cys)
|
rs374847180
|
0.00002
|
NM_001458.5(FLNC):c.1372C>T (p.Pro458Ser)
|
rs369747694
|
0.00002
|
NM_001458.5(FLNC):c.1724G>A (p.Arg575Gln)
|
rs764751276
|
0.00002
|
NM_001458.5(FLNC):c.1981G>A (p.Ala661Thr)
|
rs1480694554
|
0.00002
|
NM_001458.5(FLNC):c.2216C>T (p.Thr739Ile)
|
rs749380628
|
0.00002
|
NM_001458.5(FLNC):c.2458G>A (p.Asp820Asn)
|
rs965901086
|
0.00002
|
NM_001458.5(FLNC):c.2736C>T (p.Gly912=)
|
rs768894698
|
0.00002
|
NM_001458.5(FLNC):c.2812-4A>T
|
rs1461105538
|
0.00002
|
NM_001458.5(FLNC):c.2879T>G (p.Val960Gly)
|
rs568452175
|
0.00002
|
NM_001458.5(FLNC):c.3001G>A (p.Val1001Met)
|
rs1037999644
|
0.00002
|
NM_001458.5(FLNC):c.3005G>A (p.Arg1002Gln)
|
rs202039743
|
0.00002
|
NM_001458.5(FLNC):c.3022C>T (p.Arg1008Cys)
|
rs757969015
|
0.00002
|
NM_001458.5(FLNC):c.3062C>T (p.Ala1021Val)
|
rs574118437
|
0.00002
|
NM_001458.5(FLNC):c.3079C>T (p.Arg1027Cys)
|
rs541775814
|
0.00002
|
NM_001458.5(FLNC):c.3295G>A (p.Val1099Ile)
|
rs759452636
|
0.00002
|
NM_001458.5(FLNC):c.3310G>A (p.Glu1104Lys)
|
rs535109443
|
0.00002
|
NM_001458.5(FLNC):c.3488C>T (p.Pro1163Leu)
|
rs377489161
|
0.00002
|
NM_001458.5(FLNC):c.3499C>T (p.Arg1167Cys)
|
rs766439553
|
0.00002
|
NM_001458.5(FLNC):c.3851G>A (p.Gly1284Asp)
|
rs1041643602
|
0.00002
|
NM_001458.5(FLNC):c.400A>G (p.Ile134Val)
|
rs150285287
|
0.00002
|
NM_001458.5(FLNC):c.4061G>A (p.Arg1354Gln)
|
rs572132215
|
0.00002
|
NM_001458.5(FLNC):c.4073C>G (p.Pro1358Arg)
|
rs769586047
|
0.00002
|
NM_001458.5(FLNC):c.4159A>T (p.Ile1387Phe)
|
rs1032003580
|
0.00002
|
NM_001458.5(FLNC):c.4300C>T (p.Arg1434Cys)
|
rs536331212
|
0.00002
|
NM_001458.5(FLNC):c.449A>G (p.Asp150Gly)
|
rs760711912
|
0.00002
|
NM_001458.5(FLNC):c.44G>T (p.Gly15Val)
|
rs766081127
|
0.00002
|
NM_001458.5(FLNC):c.4513T>C (p.Tyr1505His)
|
rs761352737
|
0.00002
|
NM_001458.5(FLNC):c.4565A>G (p.Gln1522Arg)
|
rs1022106059
|
0.00002
|
NM_001458.5(FLNC):c.4699C>T (p.Arg1567Trp)
|
rs369842920
|
0.00002
|
NM_001458.5(FLNC):c.4705G>A (p.Ala1569Thr)
|
rs768737324
|
0.00002
|
NM_001458.5(FLNC):c.4711G>A (p.Glu1571Lys)
|
rs761793156
|
0.00002
|
NM_001458.5(FLNC):c.479C>T (p.Thr160Met)
|
rs1357772572
|
0.00002
|
NM_001458.5(FLNC):c.5156G>A (p.Arg1719His)
|
rs746777092
|
0.00002
|
NM_001458.5(FLNC):c.5375C>T (p.Ala1792Val)
|
rs200233856
|
0.00002
|
NM_001458.5(FLNC):c.5407C>T (p.Arg1803Trp)
|
rs369457426
|
0.00002
|
NM_001458.5(FLNC):c.5408G>A (p.Arg1803Gln)
|
rs757482925
|
0.00002
|
NM_001458.5(FLNC):c.548G>A (p.Arg183His)
|
rs747837803
|
0.00002
|
NM_001458.5(FLNC):c.5579G>A (p.Arg1860His)
|
rs1019973830
|
0.00002
|
NM_001458.5(FLNC):c.5668+4A>C
|
rs1259876470
|
0.00002
|
NM_001458.5(FLNC):c.6041T>C (p.Val2014Ala)
|
rs765064363
|
0.00002
|
NM_001458.5(FLNC):c.6053G>A (p.Arg2018His)
|
rs764326184
|
0.00002
|
NM_001458.5(FLNC):c.6121G>C (p.Ala2041Pro)
|
rs745842738
|
0.00002
|
NM_001458.5(FLNC):c.6283A>G (p.Thr2095Ala)
|
rs373022507
|
0.00002
|
NM_001458.5(FLNC):c.6325A>G (p.Ile2109Val)
|
rs755736125
|
0.00002
|
NM_001458.5(FLNC):c.6563C>T (p.Thr2188Met)
|
rs769574342
|
0.00002
|
NM_001458.5(FLNC):c.6593G>A (p.Gly2198Asp)
|
rs909093665
|
0.00002
|
NM_001458.5(FLNC):c.6923C>T (p.Pro2308Leu)
|
rs369250297
|
0.00002
|
NM_001458.5(FLNC):c.6986C>G (p.Ala2329Gly)
|
rs746991573
|
0.00002
|
NM_001458.5(FLNC):c.7310G>A (p.Arg2437Gln)
|
rs201762568
|
0.00002
|
NM_001458.5(FLNC):c.7315G>A (p.Val2439Met)
|
rs752667511
|
0.00002
|
NM_001458.5(FLNC):c.7382G>A (p.Ser2461Asn)
|
rs550547714
|
0.00002
|
NM_001458.5(FLNC):c.7546G>A (p.Glu2516Lys)
|
rs373691962
|
0.00002
|
NM_001458.5(FLNC):c.7651G>C (p.Asp2551His)
|
rs1187923021
|
0.00002
|
NM_001458.5(FLNC):c.7658G>A (p.Arg2553Gln)
|
rs375213102
|
0.00002
|
NM_001458.5(FLNC):c.7972G>A (p.Val2658Met)
|
rs1269145751
|
0.00002
|
NM_001458.5(FLNC):c.896C>T (p.Thr299Ile)
|
rs774743325
|
0.00002
|
NM_001711.6(BGN):c.22G>A (p.Val8Met)
|
rs200211184
|
0.00002
|
NM_001927.4(DES):c.1048C>T (p.Arg350Trp)
|
rs62636492
|
0.00002
|
NM_001927.4(DES):c.1049G>A (p.Arg350Gln)
|
rs57965306
|
0.00002
|
NM_001927.4(DES):c.1288+1G>A
|
rs112224037
|
0.00002
|
NM_001927.4(DES):c.1325C>A (p.Thr442Asn)
|
rs121913005
|
0.00002
|
NM_001927.4(DES):c.167T>A (p.Val56Glu)
|
rs1170549656
|
0.00002
|
NM_001927.4(DES):c.184G>A (p.Gly62Arg)
|
rs886044090
|
0.00002
|
NM_001927.4(DES):c.196C>A (p.Leu66Met)
|
rs1320380570
|
0.00002
|
NM_001927.4(DES):c.40T>C (p.Tyr14His)
|
rs750819338
|
0.00002
|
NM_001927.4(DES):c.609A>C (p.Glu203Asp)
|
rs369495436
|
0.00002
|
NM_001927.4(DES):c.680G>A (p.Arg227His)
|
rs141486420
|
0.00002
|
NM_001927.4(DES):c.728A>G (p.His243Arg)
|
rs1410266369
|
0.00002
|
NM_001943.5(DSG2):c.1195G>A (p.Glu399Lys)
|
rs774863785
|
0.00002
|
NM_001943.5(DSG2):c.1480G>A (p.Asp494Asn)
|
rs747248279
|
0.00002
|
NM_001943.5(DSG2):c.2179G>A (p.Gly727Ser)
|
rs755555966
|
0.00002
|
NM_001943.5(DSG2):c.219A>G (p.Ile73Met)
|
rs748445394
|
0.00002
|
NM_001943.5(DSG2):c.2269A>T (p.Met757Leu)
|
rs750010743
|
0.00002
|
NM_001943.5(DSG2):c.2623A>G (p.Met875Val)
|
rs370316475
|
0.00002
|
NM_001943.5(DSG2):c.356G>A (p.Arg119Gln)
|
rs532305326
|
0.00002
|
NM_001943.5(DSG2):c.919C>G (p.Leu307Val)
|
rs1052070604
|
0.00002
|
NM_001943.5(DSG2):c.977A>T (p.Asp326Val)
|
rs769699241
|
0.00002
|
NM_001999.4(FBN2):c.4801G>A (p.Val1601Ile)
|
rs762108847
|
0.00002
|
NM_002230.4(JUP):c.-4C>T
|
rs782493861
|
0.00002
|
NM_002230.4(JUP):c.1354A>T (p.Thr452Ser)
|
rs794729045
|
0.00002
|
NM_002230.4(JUP):c.1490T>G (p.Leu497Arg)
|
rs1327324458
|
0.00002
|
NM_002230.4(JUP):c.1513A>G (p.Ile505Val)
|
rs955019712
|
0.00002
|
NM_002230.4(JUP):c.1618C>T (p.Arg540Cys)
|
rs782455234
|
0.00002
|
NM_002230.4(JUP):c.1850C>T (p.Ala617Val)
|
rs782465804
|
0.00002
|
NM_002230.4(JUP):c.2153T>C (p.Met718Thr)
|
rs782336064
|
0.00002
|
NM_002230.4(JUP):c.2191G>A (p.Asp731Asn)
|
rs782647137
|
0.00002
|
NM_002230.4(JUP):c.2194G>A (p.Gly732Ser)
|
rs781885294
|
0.00002
|
NM_002230.4(JUP):c.274G>T (p.Gly92Cys)
|
rs781875765
|
0.00002
|
NM_002230.4(JUP):c.436G>A (p.Glu146Lys)
|
rs146581757
|
0.00002
|
NM_002230.4(JUP):c.502C>G (p.Gln168Glu)
|
rs1322804388
|
0.00002
|
NM_002230.4(JUP):c.521C>T (p.Ala174Val)
|
rs146786437
|
0.00002
|
NM_002230.4(JUP):c.524C>T (p.Ser175Leu)
|
rs782435477
|
0.00002
|
NM_002230.4(JUP):c.533C>T (p.Ala178Val)
|
rs781976753
|
0.00002
|
NM_002230.4(JUP):c.572G>A (p.Arg191His)
|
rs143502391
|
0.00002
|
NM_002230.4(JUP):c.646C>T (p.Arg216Trp)
|
rs1490199319
|
0.00002
|
NM_002230.4(JUP):c.951G>C (p.Gln317His)
|
rs782215140
|
0.00002
|
NM_002230.4(JUP):c.964T>C (p.Tyr322His)
|
rs557075259
|
0.00002
|
NM_002294.3(LAMP2):c.183T>C (p.Tyr61=)
|
rs397516736
|
0.00002
|
NM_002294.3(LAMP2):c.277G>A (p.Gly93Arg)
|
rs727504953
|
0.00002
|
NM_002294.3(LAMP2):c.284G>T (p.Gly95Val)
|
rs755790073
|
0.00002
|
NM_002294.3(LAMP2):c.778C>T (p.His260Tyr)
|
rs778577575
|
0.00002
|
NM_002294.3(LAMP2):c.797G>A (p.Arg266His)
|
rs200934351
|
0.00002
|
NM_002317.7(LOX):c.135G>T (p.Gln45His)
|
rs577482351
|
0.00002
|
NM_002317.7(LOX):c.215C>G (p.Pro72Arg)
|
rs754947607
|
0.00002
|
NM_002317.7(LOX):c.260C>T (p.Pro87Leu)
|
rs572413728
|
0.00002
|
NM_002317.7(LOX):c.31G>C (p.Gly11Arg)
|
rs370627614
|
0.00002
|
NM_002471.4(MYH6):c.1042G>A (p.Ala348Thr)
|
rs1002843684
|
0.00002
|
NM_002471.4(MYH6):c.1210C>T (p.Arg404Trp)
|
rs1271657601
|
0.00002
|
NM_002471.4(MYH6):c.121G>A (p.Asp41Asn)
|
rs201161721
|
0.00002
|
NM_002471.4(MYH6):c.1520T>C (p.Ile507Thr)
|
rs188023690
|
0.00002
|
NM_002471.4(MYH6):c.160C>T (p.Arg54Trp)
|
rs369366244
|
0.00002
|
NM_002471.4(MYH6):c.1822G>A (p.Ala608Thr)
|
rs886050409
|
0.00002
|
NM_002471.4(MYH6):c.2140C>T (p.Arg714Cys)
|
rs761520417
|
0.00002
|
NM_002471.4(MYH6):c.2366G>A (p.Arg789His)
|
rs534878047
|
0.00002
|
NM_002471.4(MYH6):c.244C>T (p.Pro82Ser)
|
rs754260713
|
0.00002
|
NM_002471.4(MYH6):c.2533G>A (p.Ala845Thr)
|
rs989813600
|
0.00002
|
NM_002471.4(MYH6):c.2605G>A (p.Glu869Lys)
|
rs774144472
|
0.00002
|
NM_002471.4(MYH6):c.2768A>C (p.Glu923Ala)
|
rs371709369
|
0.00002
|
NM_002471.4(MYH6):c.3135G>T (p.Lys1045Asn)
|
rs758449996
|
0.00002
|
NM_002471.4(MYH6):c.3154C>T (p.Arg1052Ter)
|
rs532606047
|
0.00002
|
NM_002471.4(MYH6):c.354G>A (p.Ser118=)
|
rs373427673
|
0.00002
|
NM_002471.4(MYH6):c.3575C>T (p.Ala1192Val)
|
rs765797952
|
0.00002
|
NM_002471.4(MYH6):c.3697G>A (p.Val1233Ile)
|
rs144761217
|
0.00002
|
NM_002471.4(MYH6):c.3998A>G (p.His1333Arg)
|
rs752258570
|
0.00002
|
NM_002471.4(MYH6):c.4010C>T (p.Ser1337Leu)
|
rs758922922
|
0.00002
|
NM_002471.4(MYH6):c.4084G>A (p.Val1362Ile)
|
rs768398107
|
0.00002
|
NM_002471.4(MYH6):c.409G>A (p.Glu137Lys)
|
rs752658033
|
0.00002
|
NM_002471.4(MYH6):c.4151G>A (p.Arg1384Gln)
|
rs139265690
|
0.00002
|
NM_002471.4(MYH6):c.4182G>C (p.Lys1394Asn)
|
rs753160962
|
0.00002
|
NM_002471.4(MYH6):c.4192C>T (p.Arg1398Trp)
|
rs374022661
|
0.00002
|
NM_002471.4(MYH6):c.4361T>A (p.Ile1454Asn)
|
rs746342054
|
0.00002
|
NM_002471.4(MYH6):c.4438A>G (p.Ser1480Gly)
|
rs930701630
|
0.00002
|
NM_002471.4(MYH6):c.4624C>A (p.Leu1542Met)
|
rs750721562
|
0.00002
|
NM_002471.4(MYH6):c.4685G>A (p.Arg1562Gln)
|
rs371068881
|
0.00002
|
NM_002471.4(MYH6):c.4918G>A (p.Glu1640Lys)
|
rs748924413
|
0.00002
|
NM_002471.4(MYH6):c.4981G>A (p.Asp1661Asn)
|
rs771357562
|
0.00002
|
NM_002471.4(MYH6):c.5002G>A (p.Asp1668Asn)
|
rs200884672
|
0.00002
|
NM_002471.4(MYH6):c.5135G>T (p.Ser1712Ile)
|
rs201383498
|
0.00002
|
NM_002471.4(MYH6):c.5285C>T (p.Thr1762Met)
|
rs917672791
|
0.00002
|
NM_002471.4(MYH6):c.5575G>A (p.Asp1859Asn)
|
rs1441072867
|
0.00002
|
NM_002471.4(MYH6):c.5660C>T (p.Ala1887Val)
|
rs767096302
|
0.00002
|
NM_002471.4(MYH6):c.5694C>G (p.Phe1898Leu)
|
rs201199853
|
0.00002
|
NM_002471.4(MYH6):c.5696G>A (p.Arg1899His)
|
rs61731171
|
0.00002
|
NM_002471.4(MYH6):c.5794A>T (p.Lys1932Ter)
|
rs763914096
|
0.00002
|
NM_002471.4(MYH6):c.691T>C (p.Phe231Leu)
|
rs199916773
|
0.00002
|
NM_002471.4(MYH6):c.731G>A (p.Arg244His)
|
rs200645920
|
0.00002
|
NM_002471.4(MYH6):c.85C>T (p.Arg29Trp)
|
rs752885646
|
0.00002
|
NM_002471.4(MYH6):c.934G>A (p.Ala312Thr)
|
rs748143404
|
0.00002
|
NM_002667.5(PLN):c.34A>G (p.Ile12Val)
|
rs749571694
|
0.00002
|
NM_002834.5(PTPN11):c.1162G>A (p.Val388Ile)
|
rs749523268
|
0.00002
|
NM_002834.5(PTPN11):c.1190C>T (p.Thr397Met)
|
rs767503386
|
0.00002
|
NM_002834.5(PTPN11):c.1226G>C (p.Gly409Ala)
|
rs201247699
|
0.00002
|
NM_002834.5(PTPN11):c.1468G>A (p.Val490Ile)
|
rs781083623
|
0.00002
|
NM_002834.5(PTPN11):c.1594G>A (p.Glu532Lys)
|
rs587778634
|
0.00002
|
NM_002834.5(PTPN11):c.455G>A (p.Arg152His)
|
rs397507521
|
0.00002
|
NM_002834.5(PTPN11):c.461G>C (p.Gly154Ala)
|
rs376027245
|
0.00002
|
NM_002834.5(PTPN11):c.487G>A (p.Gly163Ser)
|
rs730880992
|
0.00002
|
NM_002880.4(RAF1):c.293T>C (p.Val98Ala)
|
rs763559779
|
0.00002
|
NM_002880.4(RAF1):c.793A>G (p.Met265Val)
|
rs533494009
|
0.00002
|
NM_002880.4(RAF1):c.819C>G (p.Asp273Glu)
|
rs771675427
|
0.00002
|
NM_002880.4(RAF1):c.917C>T (p.Ser306Leu)
|
rs886041231
|
0.00002
|
NM_002890.3(RASA1):c.2189T>C (p.Ile730Thr)
|
rs758288921
|
0.00002
|
NM_002890.3(RASA1):c.248G>A (p.Gly83Glu)
|
rs755788420
|
0.00002
|
NM_002890.3(RASA1):c.472T>C (p.Ser158Pro)
|
rs780636400
|
0.00002
|
NM_002890.3(RASA1):c.848G>A (p.Arg283His)
|
rs753769946
|
0.00002
|
NM_003098.3(SNTA1):c.1109C>T (p.Thr370Met)
|
rs746227626
|
0.00002
|
NM_003098.3(SNTA1):c.1118G>A (p.Arg373His)
|
rs754648214
|
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.1388T>G (p.Leu463Arg)
|
rs188835994
|
0.00002
|
NM_003098.3(SNTA1):c.25C>T (p.Arg9Cys)
|
rs886039012
|
0.00002
|
NM_003098.3(SNTA1):c.668C>T (p.Ser223Leu)
|
rs779370807
|
0.00002
|
NM_003098.3(SNTA1):c.70G>A (p.Gly24Ser)
|
rs786205847
|
0.00002
|
NM_003280.3(TNNC1):c.243G>C (p.Met81Ile)
|
rs545564444
|
0.00002
|
NM_003480.4(MFAP5):c.395A>T (p.His132Leu)
|
rs374890052
|
0.00002
|
NM_003673.4(TCAP):c.386A>G (p.Asp129Gly)
|
rs1324156287
|
0.00002
|
NM_003673.4(TCAP):c.421C>G (p.Pro141Ala)
|
rs45509691
|
0.00002
|
NM_003803.4(MYOM1):c.4967C>T (p.Thr1656Ile)
|
rs749267113
|
0.00002
|
NM_004006.3(DMD):c.10211A>G (p.Asp3404Gly)
|
rs745766977
|
0.00002
|
NM_004006.3(DMD):c.1057T>C (p.Ser353Pro)
|
rs753289586
|
0.00002
|
NM_004006.3(DMD):c.10615C>G (p.Leu3539Val)
|
rs367748290
|
0.00002
|
NM_004006.3(DMD):c.10889G>A (p.Arg3630Gln)
|
rs1057522606
|
0.00002
|
NM_004006.3(DMD):c.10940G>A (p.Ser3647Asn)
|
rs759642119
|
0.00002
|
NM_004006.3(DMD):c.1094A>G (p.Gln365Arg)
|
rs1216968523
|
0.00002
|
NM_004006.3(DMD):c.11015-5T>A
|
rs753104670
|
0.00002
|
NM_004006.3(DMD):c.11023A>G (p.Thr3675Ala)
|
rs768016083
|
0.00002
|
NM_004006.3(DMD):c.1382A>G (p.Asn461Ser)
|
rs775115784
|
0.00002
|
NM_004006.3(DMD):c.1482+3A>G
|
rs368825354
|
0.00002
|
NM_004006.3(DMD):c.1573G>A (p.Ala525Thr)
|
rs754158494
|
0.00002
|
NM_004006.3(DMD):c.1823C>T (p.Ala608Val)
|
rs189896732
|
0.00002
|
NM_004006.3(DMD):c.1954G>T (p.Asp652Tyr)
|
rs1488881909
|
0.00002
|
NM_004006.3(DMD):c.2210G>A (p.Arg737His)
|
rs773358704
|
0.00002
|
NM_004006.3(DMD):c.2726C>T (p.Ala909Val)
|
rs370014420
|
0.00002
|
NM_004006.3(DMD):c.2776C>A (p.Gln926Lys)
|
rs1055371114
|
0.00002
|
NM_004006.3(DMD):c.2900T>G (p.Leu967Arg)
|
rs766400327
|
0.00002
|
NM_004006.3(DMD):c.298G>A (p.Val100Ile)
|
rs779099343
|
0.00002
|
NM_004006.3(DMD):c.3029C>T (p.Ala1010Val)
|
rs780896933
|
0.00002
|
NM_004006.3(DMD):c.3232C>T (p.Leu1078Phe)
|
rs375329908
|
0.00002
|
NM_004006.3(DMD):c.3674T>C (p.Ile1225Thr)
|
rs757482211
|
0.00002
|
NM_004006.3(DMD):c.3912G>C (p.Glu1304Asp)
|
rs764748376
|
0.00002
|
NM_004006.3(DMD):c.4302G>C (p.Lys1434Asn)
|
rs749556197
|
0.00002
|
NM_004006.3(DMD):c.4613C>T (p.Pro1538Leu)
|
rs1040362862
|
0.00002
|
NM_004006.3(DMD):c.4762G>T (p.Ala1588Ser)
|
rs749732729
|
0.00002
|
NM_004006.3(DMD):c.4798G>C (p.Val1600Leu)
|
rs753565464
|
0.00002
|
NM_004006.3(DMD):c.4981A>G (p.Ile1661Val)
|
rs373475585
|
0.00002
|
NM_004006.3(DMD):c.5022G>T (p.Leu1674Phe)
|
rs398123975
|
0.00002
|
NM_004006.3(DMD):c.5097C>A (p.Asp1699Glu)
|
rs763028318
|
0.00002
|
NM_004006.3(DMD):c.5144A>G (p.Asp1715Gly)
|
rs151109270
|
0.00002
|
NM_004006.3(DMD):c.5216C>A (p.Ala1739Glu)
|
rs200740165
|
0.00002
|
NM_004006.3(DMD):c.5255T>C (p.Leu1752Ser)
|
rs373428963
|
0.00002
|
NM_004006.3(DMD):c.5263C>T (p.Pro1755Ser)
|
rs1057515872
|
0.00002
|
NM_004006.3(DMD):c.5390T>C (p.Leu1797Pro)
|
rs750303298
|
0.00002
|
NM_004006.3(DMD):c.5459A>G (p.Asn1820Ser)
|
rs1800271
|
0.00002
|
NM_004006.3(DMD):c.5863C>T (p.Arg1955Cys)
|
rs377039314
|
0.00002
|
NM_004006.3(DMD):c.5864G>A (p.Arg1955His)
|
rs200455300
|
0.00002
|
NM_004006.3(DMD):c.5923-4C>G
|
rs780118536
|
0.00002
|
NM_004006.3(DMD):c.6076A>G (p.Lys2026Glu)
|
rs772603087
|
0.00002
|
NM_004006.3(DMD):c.6319C>T (p.Arg2107Trp)
|
rs770711808
|
0.00002
|
NM_004006.3(DMD):c.6760A>C (p.Lys2254Gln)
|
rs201818335
|
0.00002
|
NM_004006.3(DMD):c.728T>C (p.Val243Ala)
|
rs753509616
|
0.00002
|
NM_004006.3(DMD):c.7429C>T (p.Arg2477Trp)
|
rs759274835
|
0.00002
|
NM_004006.3(DMD):c.746A>G (p.Gln249Arg)
|
rs1212242832
|
0.00002
|
NM_004006.3(DMD):c.7585G>C (p.Glu2529Gln)
|
rs771509836
|
0.00002
|
NM_004006.3(DMD):c.7711C>T (p.Arg2571Trp)
|
rs757011771
|
0.00002
|
NM_004006.3(DMD):c.772C>A (p.Pro258Thr)
|
rs773066825
|
0.00002
|
NM_004006.3(DMD):c.7945C>T (p.Arg2649Trp)
|
rs1015097529
|
0.00002
|
NM_004006.3(DMD):c.8015G>A (p.Ser2672Asn)
|
rs771081514
|
0.00002
|
NM_004006.3(DMD):c.807T>A (p.His269Gln)
|
rs1038213947
|
0.00002
|
NM_004006.3(DMD):c.842G>C (p.Ser281Thr)
|
rs762274027
|
0.00002
|
NM_004006.3(DMD):c.8543A>G (p.His2848Arg)
|
rs146890210
|
0.00002
|
NM_004006.3(DMD):c.8890G>T (p.Gly2964Cys)
|
rs368114420
|
0.00002
|
NM_004006.3(DMD):c.8937+5C>T
|
rs752551008
|
0.00002
|
NM_004006.3(DMD):c.8983G>A (p.Val2995Ile)
|
rs148643665
|
0.00002
|
NM_004006.3(DMD):c.9076C>T (p.Leu3026Phe)
|
rs749533073
|
0.00002
|
NM_004006.3(DMD):c.9164-3C>T
|
rs1237165748
|
0.00002
|
NM_004006.3(DMD):c.9584G>A (p.Arg3195His)
|
rs756958090
|
0.00002
|
NM_004100.5(EYA4):c.1445C>T (p.Ala482Val)
|
rs1042738234
|
0.00002
|
NM_004100.5(EYA4):c.1685A>G (p.Tyr562Cys)
|
rs199621266
|
0.00002
|
NM_004100.5(EYA4):c.211G>A (p.Glu71Lys)
|
rs537561870
|
0.00002
|
NM_004100.5(EYA4):c.217A>G (p.Met73Val)
|
rs970732881
|
0.00002
|
NM_004100.5(EYA4):c.347C>T (p.Ala116Val)
|
rs747223436
|
0.00002
|
NM_004100.5(EYA4):c.550A>G (p.Thr184Ala)
|
rs886039203
|
0.00002
|
NM_004100.5(EYA4):c.5A>G (p.Glu2Gly)
|
rs780081930
|
0.00002
|
NM_004100.5(EYA4):c.704C>T (p.Pro235Leu)
|
rs765608642
|
0.00002
|
NM_004100.5(EYA4):c.946C>T (p.Leu316Phe)
|
rs1188519938
|
0.00002
|
NM_004100.5(EYA4):c.961A>G (p.Asn321Asp)
|
rs202049252
|
0.00002
|
NM_004100.5(EYA4):c.971-3T>C
|
rs377224718
|
0.00002
|
NM_004281.4(BAG3):c.1034A>T (p.Glu345Val)
|
rs189646603
|
0.00002
|
NM_004281.4(BAG3):c.1064C>T (p.Pro355Leu)
|
rs1227175290
|
0.00002
|
NM_004281.4(BAG3):c.1411G>A (p.Glu471Lys)
|
rs778496291
|
0.00002
|
NM_004281.4(BAG3):c.1528C>T (p.Leu510Phe)
|
rs771188059
|
0.00002
|
NM_004281.4(BAG3):c.386C>T (p.Ala129Val)
|
rs876657747
|
0.00002
|
NM_004281.4(BAG3):c.494C>T (p.Ser165Phe)
|
rs143756613
|
0.00002
|
NM_004281.4(BAG3):c.668C>G (p.Pro223Arg)
|
rs754615028
|
0.00002
|
NM_004281.4(BAG3):c.698A>G (p.Tyr233Cys)
|
rs1415830597
|
0.00002
|
NM_004281.4(BAG3):c.715G>A (p.Glu239Lys)
|
rs148544471
|
0.00002
|
NM_004281.4(BAG3):c.983T>C (p.Val328Ala)
|
rs765627299
|
0.00002
|
NM_004387.4(NKX2-5):c.13C>T (p.Pro5Ser)
|
rs769233111
|
0.00002
|
NM_004387.4(NKX2-5):c.887G>A (p.Gly296Asp)
|
rs373421818
|
0.00002
|
NM_004415.4(DSP):c.1040T>C (p.Ile347Thr)
|
rs757208743
|
0.00002
|
NM_004415.4(DSP):c.130C>T (p.Arg44Trp)
|
rs1255744065
|
0.00002
|
NM_004415.4(DSP):c.1419+5G>C
|
rs1004508873
|
0.00002
|
NM_004415.4(DSP):c.1522G>A (p.Val508Met)
|
rs751537483
|
0.00002
|
NM_004415.4(DSP):c.1732A>C (p.Lys578Gln)
|
rs761478865
|
0.00002
|
NM_004415.4(DSP):c.1816C>T (p.Arg606Trp)
|
rs372467697
|
0.00002
|
NM_004415.4(DSP):c.1903+4G>A
|
rs757726608
|
0.00002
|
NM_004415.4(DSP):c.2000G>C (p.Trp667Ser)
|
rs760214732
|
0.00002
|
NM_004415.4(DSP):c.2234A>G (p.Glu745Gly)
|
rs969462343
|
0.00002
|
NM_004415.4(DSP):c.2275G>A (p.Val759Ile)
|
rs745544854
|
0.00002
|
NM_004415.4(DSP):c.2443A>G (p.Lys815Glu)
|
rs774638728
|
0.00002
|
NM_004415.4(DSP):c.2479A>T (p.Thr827Ser)
|
rs1009521297
|
0.00002
|
NM_004415.4(DSP):c.2674C>T (p.Arg892Cys)
|
rs750800025
|
0.00002
|
NM_004415.4(DSP):c.2719C>T (p.Arg907Cys)
|
rs749051278
|
0.00002
|
NM_004415.4(DSP):c.2771T>C (p.Met924Thr)
|
rs752816142
|
0.00002
|
NM_004415.4(DSP):c.2861G>A (p.Cys954Tyr)
|
rs779878192
|
0.00002
|
NM_004415.4(DSP):c.3388G>A (p.Asp1130Asn)
|
rs765769174
|
0.00002
|
NM_004415.4(DSP):c.3661A>G (p.Ile1221Val)
|
rs794728120
|
0.00002
|
NM_004415.4(DSP):c.3774C>A (p.Asp1258Glu)
|
rs748733750
|
0.00002
|
NM_004415.4(DSP):c.3800G>A (p.Arg1267Gln)
|
rs759698959
|
0.00002
|
NM_004415.4(DSP):c.3835G>A (p.Ala1279Thr)
|
rs763915365
|
0.00002
|
NM_004415.4(DSP):c.384G>A (p.Met128Ile)
|
rs930440897
|
0.00002
|
NM_004415.4(DSP):c.3877A>G (p.Ile1293Val)
|
rs376555665
|
0.00002
|
NM_004415.4(DSP):c.3912G>C (p.Glu1304Asp)
|
rs764189408
|
0.00002
|
NM_004415.4(DSP):c.4233G>C (p.Arg1411Ser)
|
rs771721410
|
0.00002
|
NM_004415.4(DSP):c.4275G>T (p.Arg1425Ser)
|
rs763489227
|
0.00002
|
NM_004415.4(DSP):c.4466T>G (p.Leu1489Arg)
|
rs746782582
|
0.00002
|
NM_004415.4(DSP):c.4471G>A (p.Asp1491Asn)
|
rs768402359
|
0.00002
|
NM_004415.4(DSP):c.4514C>T (p.Ala1505Val)
|
rs375919492
|
0.00002
|
NM_004415.4(DSP):c.4565C>T (p.Thr1522Met)
|
rs375150075
|
0.00002
|
NM_004415.4(DSP):c.4610G>A (p.Arg1537His)
|
rs762135558
|
0.00002
|
NM_004415.4(DSP):c.4657G>A (p.Asp1553Asn)
|
rs730880084
|
0.00002
|
NM_004415.4(DSP):c.4670C>T (p.Thr1557Met)
|
rs747582734
|
0.00002
|
NM_004415.4(DSP):c.467T>A (p.Ile156Asn)
|
rs767692014
|
0.00002
|
NM_004415.4(DSP):c.4808G>A (p.Arg1603Lys)
|
rs869025393
|
0.00002
|
NM_004415.4(DSP):c.4867T>C (p.Ser1623Pro)
|
rs749679496
|
0.00002
|
NM_004415.4(DSP):c.4886G>T (p.Ser1629Ile)
|
rs200243976
|
0.00002
|
NM_004415.4(DSP):c.4991T>G (p.Leu1664Arg)
|
rs746139953
|
0.00002
|
NM_004415.4(DSP):c.517A>T (p.Thr173Ser)
|
rs1372912970
|
0.00002
|
NM_004415.4(DSP):c.5383T>A (p.Ser1795Thr)
|
rs764279057
|
0.00002
|
NM_004415.4(DSP):c.5932A>G (p.Met1978Val)
|
rs770077556
|
0.00002
|
NM_004415.4(DSP):c.6345G>T (p.Leu2115Phe)
|
rs766950975
|
0.00002
|
NM_004415.4(DSP):c.6397G>A (p.Gly2133Ser)
|
rs372393122
|
0.00002
|
NM_004415.4(DSP):c.6476A>T (p.Tyr2159Phe)
|
rs1581822548
|
0.00002
|
NM_004415.4(DSP):c.6542T>C (p.Val2181Ala)
|
rs730880088
|
0.00002
|
NM_004415.4(DSP):c.668G>A (p.Gly223Asp)
|
rs199509943
|
0.00002
|
NM_004415.4(DSP):c.7117G>A (p.Ala2373Thr)
|
rs373965771
|
0.00002
|
NM_004415.4(DSP):c.7184G>A (p.Gly2395Asp)
|
rs777930834
|
0.00002
|
NM_004415.4(DSP):c.7200A>C (p.Glu2400Asp)
|
rs1209240894
|
0.00002
|
NM_004415.4(DSP):c.7310A>G (p.Glu2437Gly)
|
rs794728132
|
0.00002
|
NM_004415.4(DSP):c.740C>T (p.Ala247Val)
|
rs544360130
|
0.00002
|
NM_004415.4(DSP):c.7622G>A (p.Arg2541Lys)
|
rs142078450
|
0.00002
|
NM_004415.4(DSP):c.7924G>A (p.Val2642Ile)
|
rs869025397
|
0.00002
|
NM_004415.4(DSP):c.797T>C (p.Met266Thr)
|
rs370890663
|
0.00002
|
NM_004415.4(DSP):c.8042A>C (p.Asp2681Ala)
|
rs746166372
|
0.00002
|
NM_004415.4(DSP):c.8233A>G (p.Ile2745Val)
|
rs747284663
|
0.00002
|
NM_004415.4(DSP):c.8374T>A (p.Ser2792Thr)
|
rs727504570
|
0.00002
|
NM_004415.4(DSP):c.8402G>A (p.Arg2801His)
|
rs763712887
|
0.00002
|
NM_004588.5(SCN2B):c.292C>T (p.Arg98Cys)
|
rs771234231
|
0.00002
|
NM_004588.5(SCN2B):c.295G>A (p.Val99Met)
|
rs772817742
|
0.00002
|
NM_004588.5(SCN2B):c.44C>T (p.Thr15Met)
|
rs201373014
|
0.00002
|
NM_004588.5(SCN2B):c.632A>G (p.Asp211Gly)
|
rs587777023
|
0.00002
|
NM_004982.4(KCNJ8):c.1196G>A (p.Arg399Gln)
|
rs142014286
|
0.00002
|
NM_004982.4(KCNJ8):c.353C>T (p.Thr118Ile)
|
rs770087869
|
0.00002
|
NM_004982.4(KCNJ8):c.820C>T (p.Arg274Cys)
|
rs781083385
|
0.00002
|
NM_005120.3(MED12):c.2308G>A (p.Ala770Thr)
|
rs199860580
|
0.00002
|
NM_005188.4(CBL):c.1394A>T (p.Asp465Val)
|
rs770644035
|
0.00002
|
NM_005188.4(CBL):c.1783A>G (p.Ile595Val)
|
rs775675805
|
0.00002
|
NM_005188.4(CBL):c.2485C>T (p.Arg829Trp)
|
rs761245258
|
0.00002
|
NM_005188.4(CBL):c.286C>T (p.Arg96Cys)
|
rs147438359
|
0.00002
|
NM_005472.5(KCNE3):c.262C>T (p.Arg88Cys)
|
rs763157740
|
0.00002
|
NM_005472.5(KCNE3):c.263G>A (p.Arg88His)
|
rs17221833
|
0.00002
|
NM_005477.3(HCN4):c.1448G>A (p.Arg483Gln)
|
rs998387579
|
0.00002
|
NM_005477.3(HCN4):c.1997G>A (p.Arg666Gln)
|
rs781395940
|
0.00002
|
NM_005477.3(HCN4):c.2063A>G (p.Asn688Ser)
|
rs778801845
|
0.00002
|
NM_005477.3(HCN4):c.2374G>T (p.Ala792Ser)
|
rs756650627
|
0.00002
|
NM_005477.3(HCN4):c.2419C>T (p.Arg807Cys)
|
rs758427944
|
0.00002
|
NM_005477.3(HCN4):c.2518G>A (p.Ala840Thr)
|
rs761507884
|
0.00002
|
NM_005477.3(HCN4):c.2764G>A (p.Asp922Asn)
|
rs1020318942
|
0.00002
|
NM_005477.3(HCN4):c.2807C>T (p.Pro936Leu)
|
rs769959023
|
0.00002
|
NM_005477.3(HCN4):c.2833C>T (p.Pro945Ser)
|
rs778739758
|
0.00002
|
NM_005477.3(HCN4):c.2875C>G (p.Leu959Val)
|
rs1057524285
|
0.00002
|
NM_005477.3(HCN4):c.3049G>A (p.Val1017Ile)
|
rs1476274605
|
0.00002
|
NM_005477.3(HCN4):c.3131G>A (p.Arg1044Gln)
|
rs750637152
|
0.00002
|
NM_005477.3(HCN4):c.3148G>A (p.Gly1050Arg)
|
rs1443227484
|
0.00002
|
NM_005477.3(HCN4):c.3197C>A (p.Pro1066His)
|
rs765155640
|
0.00002
|
NM_005477.3(HCN4):c.3218C>T (p.Pro1073Leu)
|
rs982016034
|
0.00002
|
NM_005477.3(HCN4):c.3317C>T (p.Pro1106Leu)
|
rs940405280
|
0.00002
|
NM_005477.3(HCN4):c.334G>A (p.Gly112Ser)
|
rs765099391
|
0.00002
|
NM_005477.3(HCN4):c.3383G>T (p.Gly1128Val)
|
rs727503957
|
0.00002
|
NM_005477.3(HCN4):c.3581C>T (p.Pro1194Leu)
|
rs147982868
|
0.00002
|
NM_005477.3(HCN4):c.3605A>G (p.Asn1202Ser)
|
rs768028811
|
0.00002
|
NM_005477.3(HCN4):c.88G>A (p.Glu30Lys)
|
rs786205802
|
0.00002
|
NM_005502.4(ABCA1):c.5924A>T (p.Asn1975Ile)
|
rs748663329
|
0.00002
|
NM_005633.4(SOS1):c.1010A>G (p.Tyr337Cys)
|
rs724160007
|
0.00002
|
NM_005633.4(SOS1):c.1202+5A>G
|
rs1021449471
|
0.00002
|
NM_005633.4(SOS1):c.169A>T (p.Asn57Tyr)
|
rs765764610
|
0.00002
|
NM_005633.4(SOS1):c.1772A>G (p.Asn591Ser)
|
rs757213444
|
0.00002
|
NM_005633.4(SOS1):c.2369T>C (p.Leu790Ser)
|
rs139859866
|
0.00002
|
NM_005633.4(SOS1):c.2513G>A (p.Cys838Tyr)
|
rs747801798
|
0.00002
|
NM_005633.4(SOS1):c.2567T>C (p.Ile856Thr)
|
rs778865680
|
0.00002
|
NM_005633.4(SOS1):c.2996A>G (p.Asn999Ser)
|
rs765070830
|
0.00002
|
NM_005633.4(SOS1):c.3329C>T (p.Ser1110Leu)
|
rs572955351
|
0.00002
|
NM_005633.4(SOS1):c.3412A>G (p.Ile1138Val)
|
rs56248239
|
0.00002
|
NM_005633.4(SOS1):c.3502C>G (p.Pro1168Ala)
|
rs756406841
|
0.00002
|
NM_005633.4(SOS1):c.3592A>G (p.Ile1198Val)
|
rs747534810
|
0.00002
|
NM_005633.4(SOS1):c.3836C>T (p.Thr1279Ile)
|
rs758258471
|
0.00002
|
NM_005633.4(SOS1):c.3838C>A (p.Gln1280Lys)
|
rs548519280
|
0.00002
|
NM_005633.4(SOS1):c.755T>C (p.Ile252Thr)
|
rs142094234
|
0.00002
|
NM_005633.4(SOS1):c.979A>G (p.Ile327Val)
|
rs758546951
|
0.00002
|
NM_005751.5(AKAP9):c.10007G>A (p.Arg3336Gln)
|
rs572101398
|
0.00002
|
NM_005751.5(AKAP9):c.10714-3C>T
|
rs763444110
|
0.00002
|
NM_005751.5(AKAP9):c.1103A>G (p.Gln368Arg)
|
rs901965564
|
0.00002
|
NM_005751.5(AKAP9):c.11195G>A (p.Cys3732Tyr)
|
rs752031242
|
0.00002
|
NM_005751.5(AKAP9):c.11617G>A (p.Asp3873Asn)
|
rs745335257
|
0.00002
|
NM_005751.5(AKAP9):c.11687-2A>G
|
rs1176473354
|
0.00002
|
NM_005751.5(AKAP9):c.1534C>G (p.Leu512Val)
|
rs767454911
|
0.00002
|
NM_005751.5(AKAP9):c.211C>G (p.Gln71Glu)
|
rs61757668
|
0.00002
|
NM_005751.5(AKAP9):c.2743T>A (p.Ser915Thr)
|
rs371599265
|
0.00002
|
NM_005751.5(AKAP9):c.3394C>T (p.Arg1132Cys)
|
rs768107825
|
0.00002
|
NM_005751.5(AKAP9):c.3736A>G (p.Arg1246Gly)
|
rs779232513
|
0.00002
|
NM_005751.5(AKAP9):c.4023A>T (p.Gln1341His)
|
rs765475242
|
0.00002
|
NM_005751.5(AKAP9):c.4082A>G (p.Tyr1361Cys)
|
rs760043880
|
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+5G>A
|
rs377559019
|
0.00002
|
NM_005751.5(AKAP9):c.5554G>A (p.Ala1852Thr)
|
rs1221445886
|
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.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.7309C>T (p.Arg2437Cys)
|
rs772366481
|
0.00002
|
NM_005751.5(AKAP9):c.8524A>G (p.Met2842Val)
|
rs886062477
|
0.00002
|
NM_005751.5(AKAP9):c.9022G>A (p.Glu3008Lys)
|
rs190695638
|
0.00002
|
NM_006073.4(TRDN):c.1043A>G (p.Glu348Gly)
|
rs755708624
|
0.00002
|
NM_006073.4(TRDN):c.110C>T (p.Thr37Ile)
|
rs1289581577
|
0.00002
|
NM_006073.4(TRDN):c.1220-3C>T
|
rs773907258
|
0.00002
|
NM_006073.4(TRDN):c.1547G>C (p.Gly516Ala)
|
rs145032876
|
0.00002
|
NM_006073.4(TRDN):c.1567G>C (p.Glu523Gln)
|
rs1319380436
|
0.00002
|
NM_006073.4(TRDN):c.1582A>G (p.Lys528Glu)
|
rs774550097
|
0.00002
|
NM_006073.4(TRDN):c.2110T>A (p.Phe704Ile)
|
rs780892167
|
0.00002
|
NM_006073.4(TRDN):c.2164C>G (p.Pro722Ala)
|
rs774449661
|
0.00002
|
NM_006073.4(TRDN):c.2182G>A (p.Gly728Arg)
|
rs777497275
|
0.00002
|
NM_006073.4(TRDN):c.439A>G (p.Lys147Glu)
|
rs554795197
|
0.00002
|
NM_006073.4(TRDN):c.605C>T (p.Ala202Val)
|
rs765653366
|
0.00002
|
NM_006393.3(NEBL):c.205A>G (p.Thr69Ala)
|
rs780384504
|
0.00002
|
NM_006440.5(TXNRD2):c.112C>T (p.Arg38Trp)
|
rs1044687486
|
0.00002
|
NM_006440.5(TXNRD2):c.1322G>A (p.Arg441Gln)
|
rs759374389
|
0.00002
|
NM_006440.5(TXNRD2):c.1511T>C (p.Val504Ala)
|
rs769258408
|
0.00002
|
NM_006440.5(TXNRD2):c.1534C>T (p.Arg512Cys)
|
rs201943415
|
0.00002
|
NM_006440.5(TXNRD2):c.214G>A (p.Glu72Lys)
|
rs779740988
|
0.00002
|
NM_006440.5(TXNRD2):c.529-5C>T
|
rs766288973
|
0.00002
|
NM_006440.5(TXNRD2):c.761G>A (p.Arg254His)
|
rs994880290
|
0.00002
|
NM_006440.5(TXNRD2):c.847C>T (p.Arg283Trp)
|
rs200981451
|
0.00002
|
NM_006440.5(TXNRD2):c.869G>T (p.Gly290Val)
|
rs543290126
|
0.00002
|
NM_006440.5(TXNRD2):c.969A>C (p.Arg323Ser)
|
rs765171416
|
0.00002
|
NM_006514.4(SCN10A):c.1286A>G (p.Gln429Arg)
|
rs1331566750
|
0.00002
|
NM_006514.4(SCN10A):c.1516C>A (p.His506Asn)
|
rs745555704
|
0.00002
|
NM_006514.4(SCN10A):c.1756-5A>T
|
rs770047247
|
0.00002
|
NM_006514.4(SCN10A):c.2275C>G (p.Arg759Gly)
|
rs745659019
|
0.00002
|
NM_006514.4(SCN10A):c.2464G>A (p.Ala822Thr)
|
rs144304164
|
0.00002
|
NM_006514.4(SCN10A):c.3070G>A (p.Val1024Met)
|
rs201106879
|
0.00002
|
NM_006514.4(SCN10A):c.3191C>T (p.Thr1064Met)
|
rs774803610
|
0.00002
|
NM_006514.4(SCN10A):c.3598G>A (p.Glu1200Lys)
|
rs202199966
|
0.00002
|
NM_006514.4(SCN10A):c.3742G>C (p.Ala1248Pro)
|
rs764555780
|
0.00002
|
NM_006514.4(SCN10A):c.3766C>T (p.Arg1256Trp)
|
rs747044382
|
0.00002
|
NM_006514.4(SCN10A):c.40C>T (p.Arg14Cys)
|
rs750771811
|
0.00002
|
NM_006514.4(SCN10A):c.434T>C (p.Val145Ala)
|
rs367751260
|
0.00002
|
NM_006514.4(SCN10A):c.4447A>G (p.Met1483Val)
|
rs749549443
|
0.00002
|
NM_006514.4(SCN10A):c.4563C>T (p.Gly1521=)
|
rs774492634
|
0.00002
|
NM_006514.4(SCN10A):c.4567T>C (p.Cys1523Arg)
|
rs763221534
|
0.00002
|
NM_006514.4(SCN10A):c.46T>C (p.Phe16Leu)
|
rs1432009058
|
0.00002
|
NM_006514.4(SCN10A):c.5606G>A (p.Arg1869His)
|
rs765477377
|
0.00002
|
NM_006514.4(SCN10A):c.643C>T (p.Arg215Trp)
|
rs774876702
|
0.00002
|
NM_006514.4(SCN10A):c.682G>A (p.Val228Met)
|
rs141368548
|
0.00002
|
NM_006514.4(SCN10A):c.990C>A (p.Asp330Glu)
|
rs1360994164
|
0.00002
|
NM_006912.6(RIT1):c.367C>T (p.Arg123Cys)
|
rs1213963509
|
0.00002
|
NM_006912.6(RIT1):c.646G>A (p.Asp216Asn)
|
rs545031201
|
0.00002
|
NM_006939.4(SOS2):c.1156G>C (p.Asp386His)
|
rs776909576
|
0.00002
|
NM_006939.4(SOS2):c.1208G>C (p.Cys403Ser)
|
rs201821194
|
0.00002
|
NM_006939.4(SOS2):c.2396C>T (p.Pro799Leu)
|
rs773672997
|
0.00002
|
NM_006939.4(SOS2):c.3403A>G (p.Ser1135Gly)
|
rs375478974
|
0.00002
|
NM_006939.4(SOS2):c.3547C>T (p.Pro1183Ser)
|
rs139401491
|
0.00002
|
NM_006939.4(SOS2):c.364G>A (p.Val122Met)
|
rs1208838203
|
0.00002
|
NM_006939.4(SOS2):c.3735T>G (p.Asp1245Glu)
|
rs752525400
|
0.00002
|
NM_007078.3(LDB3):c.1256C>A (p.Ser419Tyr)
|
rs368888118
|
0.00002
|
NM_007078.3(LDB3):c.1381T>G (p.Tyr461Asp)
|
rs145655904
|
0.00002
|
NM_007078.3(LDB3):c.1382A>C (p.Tyr461Ser)
|
rs774224466
|
0.00002
|
NM_007078.3(LDB3):c.1435G>A (p.Gly479Arg)
|
rs370521488
|
0.00002
|
NM_007078.3(LDB3):c.155T>C (p.Ile52Thr)
|
rs1449865053
|
0.00002
|
NM_007078.3(LDB3):c.1639C>T (p.Arg547Trp)
|
rs374426474
|
0.00002
|
NM_007078.3(LDB3):c.1696A>G (p.Met566Val)
|
rs775232208
|
0.00002
|
NM_007078.3(LDB3):c.1703G>A (p.Arg568His)
|
rs769156627
|
0.00002
|
NM_007078.3(LDB3):c.1774G>C (p.Glu592Gln)
|
rs727504944
|
0.00002
|
NM_007078.3(LDB3):c.2074G>A (p.Asp692Asn)
|
rs754529329
|
0.00002
|
NM_007078.3(LDB3):c.338C>T (p.Thr113Met)
|
rs563714303
|
0.00002
|
NM_007078.3(LDB3):c.356C>T (p.Ala119Val)
|
rs397517223
|
0.00002
|
NM_007078.3(LDB3):c.47G>A (p.Arg16His)
|
rs767986134
|
0.00002
|
NM_007078.3(LDB3):c.494G>A (p.Arg165Gln)
|
rs61857115
|
0.00002
|
NM_007078.3(LDB3):c.656G>A (p.Arg219Gln)
|
rs530979771
|
0.00002
|
NM_007078.3(LDB3):c.818G>A (p.Arg273His)
|
rs763481542
|
0.00002
|
NM_007373.4(SHOC2):c.961A>G (p.Thr321Ala)
|
rs779218281
|
0.00002
|
NM_012186.3(FOXE3):c.106G>A (p.Glu36Lys)
|
rs900562270
|
0.00002
|
NM_012186.3(FOXE3):c.19A>G (p.Met7Val)
|
rs1300297197
|
0.00002
|
NM_012186.3(FOXE3):c.415C>G (p.Pro139Ala)
|
rs768612848
|
0.00002
|
NM_012186.3(FOXE3):c.566C>T (p.Ala189Val)
|
rs777536289
|
0.00002
|
NM_012186.3(FOXE3):c.91C>T (p.Pro31Ser)
|
rs1037554225
|
0.00002
|
NM_014000.3(VCL):c.1019C>T (p.Ala340Val)
|
rs374928228
|
0.00002
|
NM_014000.3(VCL):c.1558C>T (p.Arg520Trp)
|
rs377722209
|
0.00002
|
NM_014000.3(VCL):c.158A>G (p.Asn53Ser)
|
rs751938777
|
0.00002
|
NM_014000.3(VCL):c.1606C>A (p.Pro536Thr)
|
rs370058111
|
0.00002
|
NM_014000.3(VCL):c.1803T>A (p.Asp601Glu)
|
rs1235063893
|
0.00002
|
NM_014000.3(VCL):c.1814C>G (p.Pro605Arg)
|
rs960761223
|
0.00002
|
NM_014000.3(VCL):c.2038C>T (p.Arg680Cys)
|
rs759356162
|
0.00002
|
NM_014000.3(VCL):c.2204A>G (p.Asp735Gly)
|
rs1426976613
|
0.00002
|
NM_014000.3(VCL):c.224C>T (p.Pro75Leu)
|
rs373830664
|
0.00002
|
NM_014000.3(VCL):c.2747C>T (p.Pro916Leu)
|
rs143321584
|
0.00002
|
NM_014000.3(VCL):c.676G>A (p.Ala226Thr)
|
rs146910007
|
0.00002
|
NM_014000.3(VCL):c.783+5G>A
|
rs767694507
|
0.00002
|
NM_014391.3(ANKRD1):c.472C>T (p.His158Tyr)
|
rs773773073
|
0.00002
|
NM_014391.3(ANKRD1):c.739_745del (p.Ala247fs)
|
rs778060304
|
0.00002
|
NM_014391.3(ANKRD1):c.947T>C (p.Ile316Thr)
|
rs774666943
|
0.00002
|
NM_014908.4(DOLK):c.164A>G (p.Tyr55Cys)
|
rs41305507
|
0.00002
|
NM_014908.4(DOLK):c.572C>A (p.Pro191His)
|
rs767965852
|
0.00002
|
NM_014908.4(DOLK):c.589G>A (p.Val197Ile)
|
rs373587710
|
0.00002
|
NM_014908.4(DOLK):c.8G>A (p.Arg3Gln)
|
rs373115419
|
0.00002
|
NM_015141.4(GPD1L):c.691C>T (p.Arg231Cys)
|
rs143486835
|
0.00002
|
NM_015141.4(GPD1L):c.812G>A (p.Arg271Gln)
|
rs1042900556
|
0.00002
|
NM_015141.4(GPD1L):c.838G>A (p.Ala280Thr)
|
rs764691105
|
0.00002
|
NM_015627.3(LDLRAP1):c.710C>T (p.Pro237Leu)
|
rs746229586
|
0.00002
|
NM_016203.4(PRKAG2):c.1051+3A>G
|
rs376499470
|
0.00002
|
NM_016203.4(PRKAG2):c.113C>T (p.Pro38Leu)
|
rs984007665
|
0.00002
|
NM_016203.4(PRKAG2):c.356G>A (p.Arg119Gln)
|
rs142808871
|
0.00002
|
NM_016203.4(PRKAG2):c.431C>T (p.Pro144Leu)
|
rs150140412
|
0.00002
|
NM_016203.4(PRKAG2):c.433G>A (p.Gly145Arg)
|
rs886062101
|
0.00002
|
NM_016203.4(PRKAG2):c.454C>T (p.Arg152Cys)
|
rs752783859
|
0.00002
|
NM_016203.4(PRKAG2):c.557G>A (p.Arg186Gln)
|
rs145006140
|
0.00002
|
NM_016203.4(PRKAG2):c.635C>T (p.Pro212Leu)
|
rs749753053
|
0.00002
|
NM_016203.4(PRKAG2):c.685-5C>A
|
rs779931367
|
0.00002
|
NM_016599.5(MYOZ2):c.311C>T (p.Ala104Val)
|
rs772659939
|
0.00002
|
NM_016599.5(MYOZ2):c.376+2T>C
|
rs112675369
|
0.00002
|
NM_016938.5(EFEMP2):c.1037G>A (p.Arg346His)
|
rs760786490
|
0.00002
|
NM_016938.5(EFEMP2):c.158G>A (p.Arg53Gln)
|
rs372018326
|
0.00002
|
NM_016938.5(EFEMP2):c.724A>G (p.Ser242Gly)
|
rs373202527
|
0.00002
|
NM_016938.5(EFEMP2):c.791G>A (p.Arg264His)
|
rs749794461
|
0.00002
|
NM_017636.4(TRPM4):c.1050+1G>A
|
rs775091137
|
0.00002
|
NM_017636.4(TRPM4):c.1160G>A (p.Ser387Asn)
|
rs376261717
|
0.00002
|
NM_017636.4(TRPM4):c.1261C>T (p.Arg421Trp)
|
rs773399498
|
0.00002
|
NM_017636.4(TRPM4):c.1391A>G (p.Tyr464Cys)
|
rs1024275933
|
0.00002
|
NM_017636.4(TRPM4):c.1490A>G (p.Glu497Gly)
|
rs753611182
|
0.00002
|
NM_017636.4(TRPM4):c.1514A>G (p.His505Arg)
|
rs749621197
|
0.00002
|
NM_017636.4(TRPM4):c.1611G>A (p.Met537Ile)
|
rs372498983
|
0.00002
|
NM_017636.4(TRPM4):c.1727T>C (p.Met576Thr)
|
rs371269743
|
0.00002
|
NM_017636.4(TRPM4):c.1885G>A (p.Glu629Lys)
|
rs762104169
|
0.00002
|
NM_017636.4(TRPM4):c.1934G>A (p.Arg645His)
|
rs1357319774
|
0.00002
|
NM_017636.4(TRPM4):c.1958C>G (p.Thr653Ser)
|
rs1054242340
|
0.00002
|
NM_017636.4(TRPM4):c.2420C>T (p.Pro807Leu)
|
rs142257045
|
0.00002
|
NM_017636.4(TRPM4):c.2536G>T (p.Gly846Trp)
|
rs772659037
|
0.00002
|
NM_017636.4(TRPM4):c.2912A>G (p.Tyr971Cys)
|
rs199577978
|
0.00002
|
NM_017636.4(TRPM4):c.2992G>A (p.Gly998Ser)
|
rs144702920
|
0.00002
|
NM_017636.4(TRPM4):c.3026G>A (p.Gly1009Asp)
|
rs771524054
|
0.00002
|
NM_017636.4(TRPM4):c.3043T>G (p.Tyr1015Asp)
|
rs757067985
|
0.00002
|
NM_017636.4(TRPM4):c.3226G>A (p.Ala1076Thr)
|
rs1439683845
|
0.00002
|
NM_017636.4(TRPM4):c.3377C>G (p.Ser1126Trp)
|
rs567938424
|
0.00002
|
NM_017636.4(TRPM4):c.3545G>A (p.Cys1182Tyr)
|
rs757878891
|
0.00002
|
NM_017636.4(TRPM4):c.749G>A (p.Arg250His)
|
rs778711356
|
0.00002
|
NM_017636.4(TRPM4):c.865G>A (p.Glu289Lys)
|
rs770369257
|
0.00002
|
NM_017636.4(TRPM4):c.935C>T (p.Ala312Val)
|
rs138095759
|
0.00002
|
NM_017946.4(FKBP14):c.16T>G (p.Trp6Gly)
|
rs935382945
|
0.00002
|
NM_017946.4(FKBP14):c.314T>C (p.Ile105Thr)
|
rs765841495
|
0.00002
|
NM_017946.4(FKBP14):c.404G>A (p.Arg135Gln)
|
rs747727076
|
0.00002
|
NM_018699.4(PRDM5):c.1652G>A (p.Ser551Asn)
|
rs752221668
|
0.00002
|
NM_018699.4(PRDM5):c.247C>T (p.Arg83Cys)
|
rs761027478
|
0.00002
|
NM_018699.4(PRDM5):c.842G>T (p.Arg281Ile)
|
rs373835306
|
0.00002
|
NM_020297.4(ABCC9):c.1400C>T (p.Ala467Val)
|
rs770976719
|
0.00002
|
NM_020297.4(ABCC9):c.1859G>A (p.Arg620Gln)
|
rs139539832
|
0.00002
|
NM_020297.4(ABCC9):c.1879C>G (p.Pro627Ala)
|
rs367770980
|
0.00002
|
NM_020297.4(ABCC9):c.2011G>A (p.Ala671Thr)
|
rs1220942080
|
0.00002
|
NM_020297.4(ABCC9):c.2238-4T>C
|
rs770513703
|
0.00002
|
NM_020297.4(ABCC9):c.3060G>A (p.Ser1020=)
|
rs769003781
|
0.00002
|
NM_020297.4(ABCC9):c.3590G>A (p.Arg1197His)
|
rs755156050
|
0.00002
|
NM_020433.5(JPH2):c.1564C>T (p.Arg522Trp)
|
rs770850932
|
0.00002
|
NM_020433.5(JPH2):c.1772G>T (p.Gly591Val)
|
rs766721028
|
0.00002
|
NM_020433.5(JPH2):c.1790C>G (p.Ser597Trp)
|
rs775179837
|
0.00002
|
NM_020433.5(JPH2):c.541G>A (p.Ala181Thr)
|
rs1304705938
|
0.00002
|
NM_020778.4(ALPK3):c.393dup (p.Pro132Alafs)
|
rs949029471
|
0.00002
|
NM_020778.5(ALPK3):c.-77G>A
|
rs961911481
|
0.00002
|
NM_020778.5(ALPK3):c.109C>T (p.Arg37Trp)
|
rs1229697421
|
0.00002
|
NM_020778.5(ALPK3):c.1598A>G (p.His533Arg)
|
rs540543822
|
0.00002
|
NM_020778.5(ALPK3):c.235T>C (p.Phe79Leu)
|
rs933537644
|
0.00002
|
NM_020778.5(ALPK3):c.2527C>T (p.Arg843Trp)
|
rs367609681
|
0.00002
|
NM_020778.5(ALPK3):c.2848C>T (p.Arg950Trp)
|
rs762163130
|
0.00002
|
NM_020778.5(ALPK3):c.3025C>T (p.Arg1009Trp)
|
rs765812547
|
0.00002
|
NM_020778.5(ALPK3):c.3154C>T (p.Arg1052Cys)
|
rs745957839
|
0.00002
|
NM_020778.5(ALPK3):c.3466C>T (p.Pro1156Ser)
|
rs772697378
|
0.00002
|
NM_020778.5(ALPK3):c.355C>T (p.Arg119Cys)
|
rs766905744
|
0.00002
|
NM_020778.5(ALPK3):c.3580C>T (p.Arg1194Trp)
|
rs369492331
|
0.00002
|
NM_020778.5(ALPK3):c.4096T>A (p.Leu1366Met)
|
rs777438509
|
0.00002
|
NM_020778.5(ALPK3):c.4267G>T (p.Ala1423Ser)
|
rs750010018
|
0.00002
|
NM_020778.5(ALPK3):c.4318C>T (p.Arg1440Cys)
|
rs200672174
|
0.00002
|
NM_020778.5(ALPK3):c.4469G>A (p.Arg1490Gln)
|
rs752155273
|
0.00002
|
NM_020778.5(ALPK3):c.5108G>A (p.Gly1703Asp)
|
rs1239606869
|
0.00002
|
NM_020778.5(ALPK3):c.877C>A (p.Leu293Met)
|
rs377439661
|
0.00002
|
NM_021167.5(GATAD1):c.406A>G (p.Ile136Val)
|
rs200665705
|
0.00002
|
NM_022436.3(ABCG5):c.1121G>C (p.Arg374Thr)
|
rs770254073
|
0.00002
|
NM_022436.3(ABCG5):c.827C>T (p.Thr276Met)
|
rs368800131
|
0.00002
|
NM_022436.3(ABCG5):c.900C>G (p.Phe300Leu)
|
rs748009304
|
0.00002
|
NM_022437.3(ABCG8):c.1516G>T (p.Ala506Ser)
|
rs777346950
|
0.00002
|
NM_022437.3(ABCG8):c.1807C>G (p.Leu603Val)
|
rs763348699
|
0.00002
|
NM_022773.4(LMF1):c.1219G>A (p.Gly407Arg)
|
rs376753256
|
0.00002
|
NM_024301.5(FKRP):c.187G>A (p.Val63Met)
|
rs955514933
|
0.00002
|
NM_024301.5(FKRP):c.344C>T (p.Ser115Leu)
|
rs752018916
|
0.00002
|
NM_024301.5(FKRP):c.554C>T (p.Ala185Val)
|
rs1032563159
|
0.00002
|
NM_024301.5(FKRP):c.628C>G (p.Leu210Val)
|
rs778472624
|
0.00002
|
NM_024301.5(FKRP):c.893G>C (p.Gly298Ala)
|
rs921829148
|
0.00002
|
NM_024301.5(FKRP):c.972G>C (p.Glu324Asp)
|
rs1365712686
|
0.00002
|
NM_024334.3(TMEM43):c.1059C>G (p.Phe353Leu)
|
rs730880227
|
0.00002
|
NM_024334.3(TMEM43):c.1184C>G (p.Pro395Arg)
|
rs1169613716
|
0.00002
|
NM_024334.3(TMEM43):c.179C>T (p.Thr60Met)
|
rs1362645227
|
0.00002
|
NM_024334.3(TMEM43):c.32G>A (p.Arg11Gln)
|
rs568179990
|
0.00002
|
NM_024334.3(TMEM43):c.747C>T (p.Ser249=)
|
rs549809535
|
0.00002
|
NM_024422.6(DSC2):c.1667G>A (p.Gly556Glu)
|
rs977269905
|
0.00002
|
NM_024422.6(DSC2):c.1862G>T (p.Arg621Ile)
|
rs1225904818
|
0.00002
|
NM_024422.6(DSC2):c.2287G>A (p.Ala763Thr)
|
rs777004957
|
0.00002
|
NM_024422.6(DSC2):c.2392C>T (p.Arg798Trp)
|
rs201548399
|
0.00002
|
NM_024422.6(DSC2):c.394C>T (p.Arg132Cys)
|
rs727504578
|
0.00002
|
NM_024422.6(DSC2):c.658G>A (p.Gly220Arg)
|
rs750961818
|
0.00002
|
NM_024422.6(DSC2):c.745A>C (p.Thr249Pro)
|
rs149848359
|
0.00002
|
NM_024422.6(DSC2):c.965A>G (p.Lys322Arg)
|
rs1157312147
|
0.00002
|
NM_030662.4(MAP2K2):c.952A>G (p.Ile318Val)
|
rs1064797064
|
0.00002
|
NM_032578.4(MYPN):c.1096T>C (p.Ser366Pro)
|
rs535795936
|
0.00002
|
NM_032578.4(MYPN):c.1105G>A (p.Asp369Asn)
|
rs764775347
|
0.00002
|
NM_032578.4(MYPN):c.1483+1G>A
|
rs112016439
|
0.00002
|
NM_032578.4(MYPN):c.2189C>T (p.Thr730Met)
|
rs373040567
|
0.00002
|
NM_032578.4(MYPN):c.2246G>A (p.Ser749Asn)
|
rs780085391
|
0.00002
|
NM_032578.4(MYPN):c.2428C>T (p.Arg810Cys)
|
rs369380120
|
0.00002
|
NM_032578.4(MYPN):c.2695A>C (p.Asn899His)
|
rs774900760
|
0.00002
|
NM_032578.4(MYPN):c.281C>G (p.Thr94Ser)
|
rs377389861
|
0.00002
|
NM_032578.4(MYPN):c.2869A>G (p.Thr957Ala)
|
rs778178863
|
0.00002
|
NM_032578.4(MYPN):c.3130C>T (p.Arg1044Trp)
|
rs565591812
|
0.00002
|
NM_032578.4(MYPN):c.3131G>A (p.Arg1044Gln)
|
rs142874859
|
0.00002
|
NM_032578.4(MYPN):c.3350C>T (p.Ala1117Val)
|
rs762950668
|
0.00002
|
NM_032578.4(MYPN):c.3394C>T (p.Leu1132Phe)
|
rs753388438
|
0.00002
|
NM_032578.4(MYPN):c.3485C>G (p.Ser1162Cys)
|
rs548754907
|
0.00002
|
NM_032578.4(MYPN):c.3911C>T (p.Thr1304Met)
|
rs749719592
|
0.00002
|
NM_032578.4(MYPN):c.641C>T (p.Pro214Leu)
|
rs1406498336
|
0.00002
|
NM_032578.4(MYPN):c.986C>T (p.Ala329Val)
|
rs146148277
|
0.00002
|
NM_033337.3(CAV3):c.401C>T (p.Ala134Val)
|
rs201267913
|
0.00002
|
NM_033337.3(CAV3):c.55T>C (p.Cys19Arg)
|
rs760170984
|
0.00002
|
NM_130468.4(CHST14):c.143C>T (p.Ala48Val)
|
rs780919131
|
0.00002
|
NM_130468.4(CHST14):c.250C>A (p.Arg84Ser)
|
rs561964206
|
0.00002
|
NM_130468.4(CHST14):c.293G>A (p.Gly98Glu)
|
rs770839880
|
0.00002
|
NM_144573.4(NEXN):c.1046G>C (p.Arg349Thr)
|
rs898035834
|
0.00002
|
NM_144573.4(NEXN):c.1400T>C (p.Ile467Thr)
|
rs370195451
|
0.00002
|
NM_144573.4(NEXN):c.1615C>T (p.Arg539Cys)
|
rs373680705
|
0.00002
|
NM_144573.4(NEXN):c.1A>C (p.Met1Leu)
|
rs749167943
|
0.00002
|
NM_144573.4(NEXN):c.2021A>C (p.Lys674Thr)
|
rs886046535
|
0.00002
|
NM_144573.4(NEXN):c.783C>G (p.Asn261Lys)
|
rs368545006
|
0.00002
|
NM_144573.4(NEXN):c.871G>A (p.Glu291Lys)
|
rs770120245
|
0.00002
|
NM_144573.4(NEXN):c.874G>A (p.Asp292Asn)
|
rs373377525
|
0.00002
|
NM_152594.3(SPRED1):c.1000C>T (p.Arg334Cys)
|
rs765603808
|
0.00002
|
NM_152594.3(SPRED1):c.875A>G (p.Tyr292Cys)
|
rs201933663
|
0.00002
|
NM_152594.3(SPRED1):c.887G>A (p.Cys296Tyr)
|
rs200974459
|
0.00002
|
NM_170707.4(LMNA):c.1190G>A (p.Arg397His)
|
rs747952058
|
0.00002
|
NM_170707.4(LMNA):c.1279C>T (p.Arg427Cys)
|
rs373584456
|
0.00002
|
NM_170707.4(LMNA):c.1318G>A (p.Val440Met)
|
rs121912493
|
0.00002
|
NM_170707.4(LMNA):c.149G>A (p.Arg50His)
|
rs60695352
|
0.00002
|
NM_170707.4(LMNA):c.1748C>T (p.Ser583Leu)
|
rs59601651
|
0.00002
|
NM_170707.4(LMNA):c.1879C>T (p.Arg627Cys)
|
rs777841827
|
0.00002
|
NM_170707.4(LMNA):c.1960C>T (p.Arg654Ter)
|
rs267607544
|
0.00002
|
NM_170707.4(LMNA):c.290A>C (p.Lys97Thr)
|
rs1060502216
|
0.00002
|
NM_170707.4(LMNA):c.647G>A (p.Arg216His)
|
rs757041809
|
0.00002
|
NM_170707.4(LMNA):c.658C>T (p.Arg220Cys)
|
rs370134870
|
0.00002
|
NM_170707.4(LMNA):c.74G>T (p.Arg25Leu)
|
rs61578124
|
0.00002
|
NM_170707.4(LMNA):c.884C>T (p.Ser295Leu)
|
rs769210828
|
0.00002
|
NM_170707.4(LMNA):c.977C>T (p.Ser326Leu)
|
rs745540806
|
0.00002
|
NM_172201.2(KCNE2):c.281A>G (p.Glu94Gly)
|
rs74424227
|
0.00002
|
NM_174934.4(SCN4B):c.34G>A (p.Ala12Thr)
|
rs752598271
|
0.00002
|
NM_174934.4(SCN4B):c.533T>C (p.Ile178Thr)
|
rs746641404
|
0.00002
|
NM_174934.4(SCN4B):c.594-2A>G
|
rs375535030
|
0.00002
|
NM_174936.4(PCSK9):c.1915C>G (p.Pro639Ala)
|
rs758249397
|
0.00002
|
NM_174936.4(PCSK9):c.1960T>C (p.Cys654Arg)
|
rs762968029
|
0.00002
|
NM_174936.4(PCSK9):c.1981G>A (p.Val661Ile)
|
rs375541628
|
0.00002
|
NM_174936.4(PCSK9):c.1991C>T (p.Thr664Ile)
|
rs369851423
|
0.00002
|
NM_174936.4(PCSK9):c.2003G>T (p.Ser668Ile)
|
rs1235101437
|
0.00002
|
NM_174936.4(PCSK9):c.526G>A (p.Gly176Arg)
|
rs141135099
|
0.00002
|
NM_201596.3(CACNB2):c.1123G>A (p.Ala375Thr)
|
rs552868927
|
0.00002
|
NM_201596.3(CACNB2):c.1124C>T (p.Ala375Val)
|
rs578106427
|
0.00002
|
NM_201596.3(CACNB2):c.1654C>A (p.Gln552Lys)
|
rs1339855749
|
0.00002
|
NM_201596.3(CACNB2):c.1779G>C (p.Glu593Asp)
|
rs1045331277
|
0.00002
|
NM_201596.3(CACNB2):c.1879C>T (p.Arg627Cys)
|
rs753259405
|
0.00002
|
NM_201596.3(CACNB2):c.1937G>A (p.Arg646Gln)
|
rs374454040
|
0.00002
|
NM_201596.3(CACNB2):c.485G>A (p.Arg162Gln)
|
rs144461906
|
0.00002
|
NM_000020.3(ACVRL1):c.1103C>T (p.Pro368Leu)
|
rs748123979
|
0.00001
|
NM_000020.3(ACVRL1):c.139C>T (p.Arg47Trp)
|
rs768072967
|
0.00001
|
NM_000020.3(ACVRL1):c.191A>C (p.Gln64Pro)
|
rs943040923
|
0.00001
|
NM_000039.3(APOA1):c.103G>A (p.Val35Met)
|
rs1476964300
|
0.00001
|
NM_000041.4(APOE):c.167G>A (p.Arg56His)
|
rs752790054
|
0.00001
|
NM_000088.4(COL1A1):c.1056+3G>A
|
rs367802613
|
0.00001
|
NM_000088.4(COL1A1):c.1161C>A (p.Asn387Lys)
|
rs899337697
|
0.00001
|
NM_000088.4(COL1A1):c.1423C>A (p.Pro475Thr)
|
rs1394634754
|
0.00001
|
NM_000088.4(COL1A1):c.1492G>A (p.Ala498Thr)
|
rs1051473344
|
0.00001
|
NM_000088.4(COL1A1):c.1875+3G>T
|
rs138164489
|
0.00001
|
NM_000088.4(COL1A1):c.2204C>T (p.Ala735Val)
|
rs990375606
|
0.00001
|
NM_000088.4(COL1A1):c.2464C>G (p.Gln822Glu)
|
rs72651668
|
0.00001
|
NM_000088.4(COL1A1):c.2602G>A (p.Ala868Thr)
|
rs779846520
|
0.00001
|
NM_000088.4(COL1A1):c.3176C>T (p.Pro1059Leu)
|
rs547798347
|
0.00001
|
NM_000088.4(COL1A1):c.3619G>A (p.Glu1207Lys)
|
rs746671446
|
0.00001
|
NM_000088.4(COL1A1):c.3733A>T (p.Ile1245Phe)
|
rs199514372
|
0.00001
|
NM_000088.4(COL1A1):c.3994G>A (p.Asp1332Asn)
|
rs754984293
|
0.00001
|
NM_000088.4(COL1A1):c.628G>A (p.Glu210Lys)
|
rs766407680
|
0.00001
|
NM_000089.4(COL1A2):c.1076A>G (p.Asn359Ser)
|
rs755584404
|
0.00001
|
NM_000089.4(COL1A2):c.1214G>A (p.Arg405His)
|
rs368702549
|
0.00001
|
NM_000089.4(COL1A2):c.1502C>G (p.Thr501Ser)
|
rs1466730398
|
0.00001
|
NM_000089.4(COL1A2):c.2079+3A>G
|
rs1226079110
|
0.00001
|
NM_000089.4(COL1A2):c.2356A>C (p.Thr786Pro)
|
rs774233882
|
0.00001
|
NM_000089.4(COL1A2):c.2696T>C (p.Ile899Thr)
|
rs1245765830
|
0.00001
|
NM_000089.4(COL1A2):c.3554G>A (p.Gly1185Glu)
|
rs766941490
|
0.00001
|
NM_000089.4(COL1A2):c.455G>A (p.Arg152Gln)
|
rs765116624
|
0.00001
|
NM_000089.4(COL1A2):c.593A>G (p.Lys198Arg)
|
rs772672797
|
0.00001
|
NM_000089.4(COL1A2):c.674T>C (p.Val225Ala)
|
rs1210318478
|
0.00001
|
NM_000090.4(COL3A1):c.4300C>T (p.Arg1434Cys)
|
rs747324731
|
0.00001
|
NM_000090.4(COL3A1):c.508G>A (p.Ala170Thr)
|
rs374476865
|
0.00001
|
NM_000116.5(TAFAZZIN):c.460+1G>A
|
rs878853655
|
0.00001
|
NM_000117.3(EMD):c.103G>A (p.Glu35Lys)
|
rs782222974
|
0.00001
|
NM_000117.3(EMD):c.242A>G (p.Asp81Gly)
|
rs1557182377
|
0.00001
|
NM_000117.3(EMD):c.359C>T (p.Ser120Leu)
|
rs782038352
|
0.00001
|
NM_000117.3(EMD):c.436G>A (p.Glu146Lys)
|
rs782732591
|
0.00001
|
NM_000138.5(FBN1):c.287G>C (p.Arg96Thr)
|
rs794728291
|
0.00001
|
NM_000138.5(FBN1):c.3089A>G (p.Asn1030Ser)
|
rs375996640
|
0.00001
|
NM_000138.5(FBN1):c.4007A>G (p.His1336Arg)
|
rs886038781
|
0.00001
|
NM_000138.5(FBN1):c.6932G>A (p.Arg2311His)
|
rs141868829
|
0.00001
|
NM_000138.5(FBN1):c.7949A>G (p.Asn2650Ser)
|
rs756819682
|
0.00001
|
NM_000152.5(GAA):c.2005C>A (p.Pro669Thr)
|
rs752507985
|
0.00001
|
NM_000152.5(GAA):c.2137T>C (p.Phe713Leu)
|
rs755618776
|
0.00001
|
NM_000152.5(GAA):c.2521A>G (p.Met841Val)
|
rs1184116513
|
0.00001
|
NM_000152.5(GAA):c.2819C>T (p.Ser940Leu)
|
rs1343332597
|
0.00001
|
NM_000152.5(GAA):c.347G>T (p.Gly116Val)
|
rs754285414
|
0.00001
|
NM_000152.5(GAA):c.70G>A (p.Ala24Thr)
|
rs139716763
|
0.00001
|
NM_000152.5(GAA):c.745T>C (p.Ser249Pro)
|
rs1386718298
|
0.00001
|
NM_000169.3(GLA):c.247G>A (p.Asp83Asn)
|
rs782722577
|
0.00001
|
NM_000169.3(GLA):c.313A>G (p.Arg105Gly)
|
rs782092398
|
0.00001
|
NM_000169.3(GLA):c.616C>G (p.Leu206Val)
|
rs730880448
|
0.00001
|
NM_000169.3(GLA):c.724A>G (p.Ile242Val)
|
rs397515873
|
0.00001
|
NM_000214.3(JAG1):c.1057G>C (p.Glu353Gln)
|
rs1600185499
|
0.00001
|
NM_000214.3(JAG1):c.1117A>G (p.Thr373Ala)
|
rs1212026437
|
0.00001
|
NM_000214.3(JAG1):c.1444G>A (p.Asp482Asn)
|
rs766370717
|
0.00001
|
NM_000214.3(JAG1):c.1475C>T (p.Ala492Val)
|
rs200250528
|
0.00001
|
NM_000214.3(JAG1):c.2234A>C (p.Asn745Thr)
|
rs1314917198
|
0.00001
|
NM_000214.3(JAG1):c.2305G>A (p.Val769Ile)
|
rs754301929
|
0.00001
|
NM_000214.3(JAG1):c.2393T>A (p.Val798Glu)
|
rs1308346607
|
0.00001
|
NM_000214.3(JAG1):c.2414G>A (p.Arg805Gln)
|
rs774372899
|
0.00001
|
NM_000214.3(JAG1):c.2528G>A (p.Arg843Gln)
|
rs751448440
|
0.00001
|
NM_000214.3(JAG1):c.2767G>A (p.Asp923Asn)
|
rs775240101
|
0.00001
|
NM_000214.3(JAG1):c.2779G>A (p.Val927Ile)
|
rs770415804
|
0.00001
|
NM_000214.3(JAG1):c.2876C>T (p.Ala959Val)
|
rs747802983
|
0.00001
|
NM_000214.3(JAG1):c.2998A>G (p.Ile1000Val)
|
rs773974344
|
0.00001
|
NM_000214.3(JAG1):c.3083T>G (p.Ile1028Ser)
|
rs761187116
|
0.00001
|
NM_000214.3(JAG1):c.3286C>T (p.Arg1096Trp)
|
rs537986153
|
0.00001
|
NM_000214.3(JAG1):c.3290G>A (p.Arg1097Gln)
|
rs1462490364
|
0.00001
|
NM_000214.3(JAG1):c.3347G>A (p.Arg1116Gln)
|
rs908755268
|
0.00001
|
NM_000214.3(JAG1):c.3452C>A (p.Thr1151Lys)
|
rs1362853052
|
0.00001
|
NM_000214.3(JAG1):c.3506G>A (p.Arg1169Gln)
|
rs1268561604
|
0.00001
|
NM_000214.3(JAG1):c.3524C>T (p.Ala1175Val)
|
rs918046091
|
0.00001
|
NM_000214.3(JAG1):c.448A>G (p.Ser150Gly)
|
rs1229047867
|
0.00001
|
NM_000214.3(JAG1):c.860A>G (p.Asn287Ser)
|
rs768317581
|
0.00001
|
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg)
|
rs12720458
|
0.00001
|
NM_000218.3(KCNQ1):c.1132G>A (p.Ala378Thr)
|
rs756571615
|
0.00001
|
NM_000218.3(KCNQ1):c.1142G>A (p.Cys381Tyr)
|
rs368507376
|
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.1286A>G (p.Asn429Ser)
|
rs1464968488
|
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.1464C>A (p.Asp488Glu)
|
rs778041701
|
0.00001
|
NM_000218.3(KCNQ1):c.1498A>G (p.Ile500Val)
|
rs189794855
|
0.00001
|
NM_000218.3(KCNQ1):c.1520G>A (p.Arg507Gln)
|
rs369571296
|
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.1876G>A (p.Gly626Ser)
|
rs199472821
|
0.00001
|
NM_000218.3(KCNQ1):c.1904G>A (p.Gly635Glu)
|
rs939431028
|
0.00001
|
NM_000218.3(KCNQ1):c.1999G>A (p.Val667Met)
|
rs776119582
|
0.00001
|
NM_000218.3(KCNQ1):c.287C>G (p.Thr96Arg)
|
rs1337409061
|
0.00001
|
NM_000218.3(KCNQ1):c.437A>G (p.Glu146Gly)
|
rs914460959
|
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.541C>T (p.Arg181Cys)
|
rs199473395
|
0.00001
|
NM_000218.3(KCNQ1):c.559C>T (p.Leu187Phe)
|
rs1282771390
|
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.64G>C (p.Gly22Arg)
|
rs794728545
|
0.00001
|
NM_000218.3(KCNQ1):c.684-5C>T
|
rs1212611138
|
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.827C>T (p.Ser276Phe)
|
rs794728514
|
0.00001
|
NM_000218.3(KCNQ1):c.985G>A (p.Ala329Thr)
|
rs543428644
|
0.00001
|
NM_000219.6(KCNE1):c.242A>G (p.Tyr81Cys)
|
rs199473359
|
0.00001
|
NM_000219.6(KCNE1):c.94C>T (p.Arg32Cys)
|
rs200963514
|
0.00001
|
NM_000229.2(LCAT):c.110C>T (p.Thr37Met)
|
rs971887742
|
0.00001
|
NM_000237.3(LPL):c.1051G>A (p.Gly351Arg)
|
rs772132247
|
0.00001
|
NM_000237.3(LPL):c.1373C>T (p.Ala458Val)
|
rs140236957
|
0.00001
|
NM_000238.4(KCNH2):c.1128+1810C>T
|
rs972201049
|
0.00001
|
NM_000238.4(KCNH2):c.1190G>A (p.Arg397His)
|
rs368817970
|
0.00001
|
NM_000238.4(KCNH2):c.138C>G (p.Asp46Glu)
|
rs752503743
|
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.1474C>T (p.His492Tyr)
|
rs199472910
|
0.00001
|
NM_000238.4(KCNH2):c.1582C>T (p.Arg528Trp)
|
rs864622403
|
0.00001
|
NM_000238.4(KCNH2):c.1781G>A (p.Gly594Asp)
|
rs199472931
|
0.00001
|
NM_000238.4(KCNH2):c.2046G>C (p.Glu682Asp)
|
rs1338579153
|
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.2122A>G (p.Thr708Ala)
|
rs1554425463
|
0.00001
|
NM_000238.4(KCNH2):c.2231G>A (p.Arg744Gln)
|
rs1264176305
|
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.2380G>A (p.Val794Ile)
|
rs565006344
|
0.00001
|
NM_000238.4(KCNH2):c.2588G>A (p.Arg863Gln)
|
rs939435672
|
0.00001
|
NM_000238.4(KCNH2):c.2606C>T (p.Pro869Leu)
|
rs763031434
|
0.00001
|
NM_000238.4(KCNH2):c.2680C>T (p.Arg894Cys)
|
rs199473433
|
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.2956C>A (p.Pro986Thr)
|
rs1261949255
|
0.00001
|
NM_000238.4(KCNH2):c.3019C>T (p.Arg1007Cys)
|
rs1224504959
|
0.00001
|
NM_000238.4(KCNH2):c.3053C>T (p.Pro1018Leu)
|
rs866657878
|
0.00001
|
NM_000238.4(KCNH2):c.3079C>A (p.Leu1027Ile)
|
rs794728346
|
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.3314T>C (p.Leu1105Ser)
|
rs757147615
|
0.00001
|
NM_000238.4(KCNH2):c.3320C>T (p.Ser1107Leu)
|
rs1303580599
|
0.00001
|
NM_000238.4(KCNH2):c.3394C>G (p.Pro1132Ala)
|
rs786205422
|
0.00001
|
NM_000238.4(KCNH2):c.3400C>T (p.Arg1134Ter)
|
rs965259777
|
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.38C>A (p.Thr13Asn)
|
rs758978727
|
0.00001
|
NM_000238.4(KCNH2):c.449C>T (p.Pro150Leu)
|
rs866485757
|
0.00001
|
NM_000238.4(KCNH2):c.473-5C>T
|
rs1181633993
|
0.00001
|
NM_000238.4(KCNH2):c.476G>A (p.Arg159His)
|
rs1016201425
|
0.00001
|
NM_000238.4(KCNH2):c.478G>T (p.Ala160Ser)
|
rs1210130846
|
0.00001
|
NM_000238.4(KCNH2):c.563C>T (p.Ala188Val)
|
rs794728356
|
0.00001
|
NM_000238.4(KCNH2):c.652A>G (p.Met218Val)
|
rs199472869
|
0.00001
|
NM_000238.4(KCNH2):c.692G>A (p.Arg231Gln)
|
rs1383803455
|
0.00001
|
NM_000238.4(KCNH2):c.736G>T (p.Gly246Cys)
|
rs1057520689
|
0.00001
|
NM_000238.4(KCNH2):c.773C>T (p.Pro258Leu)
|
rs1367019959
|
0.00001
|
NM_000238.4(KCNH2):c.779C>T (p.Ala260Val)
|
rs1228602666
|
0.00001
|
NM_000238.4(KCNH2):c.877G>A (p.Ala293Thr)
|
rs794728362
|
0.00001
|
NM_000238.4(KCNH2):c.916+3G>A
|
rs1554427591
|
0.00001
|
NM_000238.4(KCNH2):c.935G>A (p.Arg312His)
|
rs747313232
|
0.00001
|
NM_000238.4(KCNH2):c.976C>T (p.Arg326Cys)
|
rs759079349
|
0.00001
|
NM_000256.3(MYBPC3):c.1003C>T (p.Arg335Cys)
|
rs730880630
|
0.00001
|
NM_000256.3(MYBPC3):c.1070G>A (p.Arg357His)
|
rs199741162
|
0.00001
|
NM_000256.3(MYBPC3):c.1153G>A (p.Val385Met)
|
rs772073491
|
0.00001
|
NM_000256.3(MYBPC3):c.11C>T (p.Pro4Leu)
|
rs748689012
|
0.00001
|
NM_000256.3(MYBPC3):c.1219G>A (p.Gly407Ser)
|
rs727505266
|
0.00001
|
NM_000256.3(MYBPC3):c.122G>A (p.Arg41His)
|
rs764849803
|
0.00001
|
NM_000256.3(MYBPC3):c.1357C>G (p.Pro453Ala)
|
rs749310275
|
0.00001
|
NM_000256.3(MYBPC3):c.1363C>T (p.Leu455Phe)
|
rs747686377
|
0.00001
|
NM_000256.3(MYBPC3):c.1373G>A (p.Arg458His)
|
rs374255707
|
0.00001
|
NM_000256.3(MYBPC3):c.1409G>A (p.Arg470Gln)
|
rs776734314
|
0.00001
|
NM_000256.3(MYBPC3):c.1457+5G>A
|
rs727503202
|
0.00001
|
NM_000256.3(MYBPC3):c.1459C>A (p.Leu487Met)
|
rs771741441
|
0.00001
|
NM_000256.3(MYBPC3):c.1471G>A (p.Val491Met)
|
rs730880543
|
0.00001
|
NM_000256.3(MYBPC3):c.1549G>T (p.Ala517Ser)
|
rs1565627873
|
0.00001
|
NM_000256.3(MYBPC3):c.1685C>T (p.Ala562Val)
|
rs730880694
|
0.00001
|
NM_000256.3(MYBPC3):c.1765C>T (p.Arg589Cys)
|
rs1329919535
|
0.00001
|
NM_000256.3(MYBPC3):c.1766G>A (p.Arg589His)
|
rs397515923
|
0.00001
|
NM_000256.3(MYBPC3):c.1805C>T (p.Thr602Ile)
|
rs730880551
|
0.00001
|
NM_000256.3(MYBPC3):c.188G>A (p.Arg63Gln)
|
rs549239819
|
0.00001
|
NM_000256.3(MYBPC3):c.1897+3G>A
|
rs937023392
|
0.00001
|
NM_000256.3(MYBPC3):c.1899G>A (p.Glu633=)
|
rs1206508060
|
0.00001
|
NM_000256.3(MYBPC3):c.1976T>C (p.Ile659Thr)
|
rs397515941
|
0.00001
|
NM_000256.3(MYBPC3):c.2002C>T (p.Arg668Cys)
|
rs730880561
|
0.00001
|
NM_000256.3(MYBPC3):c.2035C>T (p.Pro679Ser)
|
rs372493586
|
0.00001
|
NM_000256.3(MYBPC3):c.2164G>A (p.Glu722Lys)
|
rs730880696
|
0.00001
|
NM_000256.3(MYBPC3):c.2170C>T (p.Arg724Trp)
|
rs200399246
|
0.00001
|
NM_000256.3(MYBPC3):c.2269G>A (p.Val757Met)
|
rs369790992
|
0.00001
|
NM_000256.3(MYBPC3):c.2300A>G (p.Lys767Arg)
|
rs760786216
|
0.00001
|
NM_000256.3(MYBPC3):c.2307C>T (p.Ile769=)
|
rs775491112
|
0.00001
|
NM_000256.3(MYBPC3):c.2309-4C>T
|
rs942669152
|
0.00001
|
NM_000256.3(MYBPC3):c.2336A>G (p.Lys779Arg)
|
rs774512738
|
0.00001
|
NM_000256.3(MYBPC3):c.2351G>C (p.Gly784Ala)
|
rs931275955
|
0.00001
|
NM_000256.3(MYBPC3):c.2399G>A (p.Gly800Glu)
|
rs1273374175
|
0.00001
|
NM_000256.3(MYBPC3):c.2450G>A (p.Arg817Gln)
|
rs397515964
|
0.00001
|
NM_000256.3(MYBPC3):c.2501G>C (p.Arg834Pro)
|
rs540988604
|
0.00001
|
NM_000256.3(MYBPC3):c.2512G>C (p.Glu838Gln)
|
rs397515969
|
0.00001
|
NM_000256.3(MYBPC3):c.2536G>A (p.Val846Ile)
|
rs747774791
|
0.00001
|
NM_000256.3(MYBPC3):c.2573G>A (p.Ser858Asn)
|
rs727503185
|
0.00001
|
NM_000256.3(MYBPC3):c.2605C>T (p.Pro869Ser)
|
rs1219654172
|
0.00001
|
NM_000256.3(MYBPC3):c.2641G>A (p.Val881Ile)
|
rs727504360
|
0.00001
|
NM_000256.3(MYBPC3):c.2671C>T (p.Arg891Trp)
|
rs727504418
|
0.00001
|
NM_000256.3(MYBPC3):c.2716G>A (p.Val906Met)
|
rs774634021
|
0.00001
|
NM_000256.3(MYBPC3):c.271G>A (p.Asp91Asn)
|
rs778851720
|
0.00001
|
NM_000256.3(MYBPC3):c.2771C>T (p.Thr924Ile)
|
rs200406864
|
0.00001
|
NM_000256.3(MYBPC3):c.2815C>T (p.Arg939Trp)
|
rs534366414
|
0.00001
|
NM_000256.3(MYBPC3):c.2834G>A (p.Arg945Gln)
|
rs1443971720
|
0.00001
|
NM_000256.3(MYBPC3):c.283A>C (p.Ile95Leu)
|
rs549758428
|
0.00001
|
NM_000256.3(MYBPC3):c.2915G>A (p.Arg972Gln)
|
rs761696555
|
0.00001
|
NM_000256.3(MYBPC3):c.2927C>G (p.Pro976Arg)
|
rs954096716
|
0.00001
|
NM_000256.3(MYBPC3):c.3037C>G (p.Pro1013Ala)
|
rs965977966
|
0.00001
|
NM_000256.3(MYBPC3):c.3109C>T (p.Arg1037Cys)
|
rs758421775
|
0.00001
|
NM_000256.3(MYBPC3):c.3110G>A (p.Arg1037His)
|
rs750609594
|
0.00001
|
NM_000256.3(MYBPC3):c.3142C>T (p.Arg1048Cys)
|
rs11570113
|
0.00001
|
NM_000256.3(MYBPC3):c.314C>T (p.Ala105Val)
|
rs1595850245
|
0.00001
|
NM_000256.3(MYBPC3):c.3190+3G>A
|
rs536826395
|
0.00001
|
NM_000256.3(MYBPC3):c.3217C>T (p.Arg1073Trp)
|
rs368973872
|
0.00001
|
NM_000256.3(MYBPC3):c.3223A>G (p.Thr1075Ala)
|
rs767927162
|
0.00001
|
NM_000256.3(MYBPC3):c.3277G>T (p.Gly1093Cys)
|
rs727503173
|
0.00001
|
NM_000256.3(MYBPC3):c.3295G>C (p.Gly1099Arg)
|
rs1064794364
|
0.00001
|
NM_000256.3(MYBPC3):c.332C>T (p.Ala111Val)
|
rs730880530
|
0.00001
|
NM_000256.3(MYBPC3):c.3358C>T (p.Arg1120Cys)
|
rs368721523
|
0.00001
|
NM_000256.3(MYBPC3):c.344G>A (p.Gly115Glu)
|
rs1555123616
|
0.00001
|
NM_000256.3(MYBPC3):c.3457A>T (p.Thr1153Ser)
|
rs746297609
|
0.00001
|
NM_000256.3(MYBPC3):c.3514T>C (p.Tyr1172His)
|
rs1280085255
|
0.00001
|
NM_000256.3(MYBPC3):c.3518A>G (p.Lys1173Arg)
|
rs1165270727
|
0.00001
|
NM_000256.3(MYBPC3):c.3568C>T (p.Arg1190Cys)
|
rs755160084
|
0.00001
|
NM_000256.3(MYBPC3):c.3572C>T (p.Ser1191Leu)
|
rs761545914
|
0.00001
|
NM_000256.3(MYBPC3):c.3605G>C (p.Cys1202Ser)
|
rs727503170
|
0.00001
|
NM_000256.3(MYBPC3):c.3613C>T (p.Arg1205Trp)
|
rs727503171
|
0.00001
|
NM_000256.3(MYBPC3):c.364G>A (p.Ala122Thr)
|
rs754633960
|
0.00001
|
NM_000256.3(MYBPC3):c.3661C>G (p.Leu1221Val)
|
rs1351250957
|
0.00001
|
NM_000256.3(MYBPC3):c.3677G>A (p.Arg1226His)
|
rs397516034
|
0.00001
|
NM_000256.3(MYBPC3):c.3746G>A (p.Gly1249Asp)
|
rs727504259
|
0.00001
|
NM_000256.3(MYBPC3):c.3781G>A (p.Glu1261Lys)
|
rs730880141
|
0.00001
|
NM_000256.3(MYBPC3):c.3810G>A (p.Val1270=)
|
rs1255638075
|
0.00001
|
NM_000256.3(MYBPC3):c.3812G>A (p.Arg1271Gln)
|
rs762225417
|
0.00001
|
NM_000256.3(MYBPC3):c.3818C>T (p.Pro1273Leu)
|
rs369184972
|
0.00001
|
NM_000256.3(MYBPC3):c.394C>T (p.Pro132Ser)
|
rs1042129854
|
0.00001
|
NM_000256.3(MYBPC3):c.400C>T (p.Pro134Ser)
|
rs1233789701
|
0.00001
|
NM_000256.3(MYBPC3):c.406+5G>C
|
rs757353079
|
0.00001
|
NM_000256.3(MYBPC3):c.407G>C (p.Gly136Ala)
|
rs1337388106
|
0.00001
|
NM_000256.3(MYBPC3):c.408G>C (p.Gly136=)
|
rs1057520977
|
0.00001
|
NM_000256.3(MYBPC3):c.418G>C (p.Ala140Pro)
|
rs730880614
|
0.00001
|
NM_000256.3(MYBPC3):c.41A>G (p.Lys14Arg)
|
rs779049126
|
0.00001
|
NM_000256.3(MYBPC3):c.434C>A (p.Pro145His)
|
rs768309693
|
0.00001
|
NM_000256.3(MYBPC3):c.436A>C (p.Thr146Pro)
|
rs397516048
|
0.00001
|
NM_000256.3(MYBPC3):c.466C>G (p.Leu156Val)
|
rs1001923615
|
0.00001
|
NM_000256.3(MYBPC3):c.467T>C (p.Leu156Pro)
|
rs730880616
|
0.00001
|
NM_000256.3(MYBPC3):c.495G>C (p.Glu165Asp)
|
rs730880619
|
0.00001
|
NM_000256.3(MYBPC3):c.553A>C (p.Lys185Gln)
|
rs375607980
|
0.00001
|
NM_000256.3(MYBPC3):c.721G>C (p.Val241Leu)
|
rs886039000
|
0.00001
|
NM_000256.3(MYBPC3):c.739T>C (p.Phe247Leu)
|
rs372574446
|
0.00001
|
NM_000256.3(MYBPC3):c.745T>C (p.Cys249Arg)
|
rs397516071
|
0.00001
|
NM_000256.3(MYBPC3):c.817C>T (p.Arg273Cys)
|
rs551119259
|
0.00001
|
NM_000257.4(MYH7):c.1045A>G (p.Met349Val)
|
rs730880730
|
0.00001
|
NM_000257.4(MYH7):c.1118C>T (p.Ala373Val)
|
rs730880924
|
0.00001
|
NM_000257.4(MYH7):c.1129G>C (p.Gly377Arg)
|
rs773599095
|
0.00001
|
NM_000257.4(MYH7):c.1305G>A (p.Met435Ile)
|
rs863224644
|
0.00001
|
NM_000257.4(MYH7):c.160C>T (p.Arg54Ter)
|
rs761841748
|
0.00001
|
NM_000257.4(MYH7):c.1630A>G (p.Thr544Ala)
|
rs397516119
|
0.00001
|
NM_000257.4(MYH7):c.1681G>A (p.Ala561Thr)
|
rs730880878
|
0.00001
|
NM_000257.4(MYH7):c.1699C>T (p.Arg567Cys)
|
rs771771163
|
0.00001
|
NM_000257.4(MYH7):c.1700G>A (p.Arg567His)
|
rs377491278
|
0.00001
|
NM_000257.4(MYH7):c.1807G>A (p.Glu603Lys)
|
rs1038661561
|
0.00001
|
NM_000257.4(MYH7):c.1886C>T (p.Ala629Val)
|
rs140824103
|
0.00001
|
NM_000257.4(MYH7):c.1903A>T (p.Lys635Ter)
|
rs1430156584
|
0.00001
|
NM_000257.4(MYH7):c.2039C>T (p.Ser680Phe)
|
rs1175481910
|
0.00001
|
NM_000257.4(MYH7):c.2135G>T (p.Arg712Leu)
|
rs1224554825
|
0.00001
|
NM_000257.4(MYH7):c.2137A>G (p.Ile713Val)
|
rs1339799654
|
0.00001
|
NM_000257.4(MYH7):c.2168G>A (p.Arg723His)
|
rs397516135
|
0.00001
|
NM_000257.4(MYH7):c.2286G>A (p.Lys762=)
|
rs958169569
|
0.00001
|
NM_000257.4(MYH7):c.22G>A (p.Val8Ile)
|
rs754388460
|
0.00001
|
NM_000257.4(MYH7):c.2378G>A (p.Arg793Gln)
|
rs730880896
|
0.00001
|
NM_000257.4(MYH7):c.2456G>A (p.Arg819Gln)
|
rs773009513
|
0.00001
|
NM_000257.4(MYH7):c.2508C>G (p.Ile836Met)
|
rs772442923
|
0.00001
|
NM_000257.4(MYH7):c.2573G>A (p.Arg858His)
|
rs2856897
|
0.00001
|
NM_000257.4(MYH7):c.2578A>G (p.Lys860Glu)
|
rs759225115
|
0.00001
|
NM_000257.4(MYH7):c.2682A>C (p.Glu894Asp)
|
rs1452212789
|
0.00001
|
NM_000257.4(MYH7):c.2765T>C (p.Met922Thr)
|
rs771599539
|
0.00001
|
NM_000257.4(MYH7):c.2804A>T (p.Glu935Val)
|
rs730880761
|
0.00001
|
NM_000257.4(MYH7):c.2908G>A (p.Ala970Thr)
|
rs1446657813
|
0.00001
|
NM_000257.4(MYH7):c.2974C>A (p.Leu992Met)
|
rs149840927
|
0.00001
|
NM_000257.4(MYH7):c.3010C>G (p.Gln1004Glu)
|
rs730880762
|
0.00001
|
NM_000257.4(MYH7):c.3028C>T (p.Leu1010Phe)
|
rs768312155
|
0.00001
|
NM_000257.4(MYH7):c.3110C>A (p.Ser1037Tyr)
|
rs1159928168
|
0.00001
|
NM_000257.4(MYH7):c.3152C>T (p.Ala1051Val)
|
rs727504358
|
0.00001
|
NM_000257.4(MYH7):c.3200T>C (p.Met1067Thr)
|
rs763564858
|
0.00001
|
NM_000257.4(MYH7):c.3225G>C (p.Gln1075His)
|
rs767369809
|
0.00001
|
NM_000257.4(MYH7):c.3235C>T (p.Arg1079Trp)
|
rs192722540
|
0.00001
|
NM_000257.4(MYH7):c.3241A>G (p.Lys1081Glu)
|
rs730880771
|
0.00001
|
NM_000257.4(MYH7):c.3245+3A>T
|
rs727505355
|
0.00001
|
NM_000257.4(MYH7):c.328G>A (p.Gly110Ser)
|
rs763893822
|
0.00001
|
NM_000257.4(MYH7):c.3455A>T (p.Glu1152Val)
|
rs397516184
|
0.00001
|
NM_000257.4(MYH7):c.3457G>A (p.Ala1153Thr)
|
rs774812187
|
0.00001
|
NM_000257.4(MYH7):c.3464G>A (p.Gly1155Glu)
|
rs397516186
|
0.00001
|
NM_000257.4(MYH7):c.3483C>G (p.Ile1161Met)
|
rs778909719
|
0.00001
|
NM_000257.4(MYH7):c.3487A>G (p.Met1163Val)
|
rs748972327
|
0.00001
|
NM_000257.4(MYH7):c.3610G>C (p.Gly1204Arg)
|
rs397516188
|
0.00001
|
NM_000257.4(MYH7):c.3734T>A (p.Leu1245Gln)
|
rs397516192
|
0.00001
|
NM_000257.4(MYH7):c.37G>A (p.Ala13Thr)
|
rs759231966
|
0.00001
|
NM_000257.4(MYH7):c.3866G>A (p.Arg1289Gln)
|
rs1287612987
|
0.00001
|
NM_000257.4(MYH7):c.3977A>G (p.Lys1326Arg)
|
rs730880786
|
0.00001
|
NM_000257.4(MYH7):c.4004C>T (p.Ser1335Leu)
|
rs397516199
|
0.00001
|
NM_000257.4(MYH7):c.4021G>A (p.Asp1341Asn)
|
rs746724436
|
0.00001
|
NM_000257.4(MYH7):c.4075C>T (p.Arg1359Cys)
|
rs45451303
|
0.00001
|
NM_000257.4(MYH7):c.4186C>T (p.Arg1396Trp)
|
rs730880793
|
0.00001
|
NM_000257.4(MYH7):c.4343A>T (p.Asn1448Ile)
|
rs753484341
|
0.00001
|
NM_000257.4(MYH7):c.4390C>T (p.Gln1464Ter)
|
rs754829218
|
0.00001
|
NM_000257.4(MYH7):c.4440G>T (p.Glu1480Asp)
|
rs1351661186
|
0.00001
|
NM_000257.4(MYH7):c.4450C>A (p.Leu1484Ile)
|
rs1555336651
|
0.00001
|
NM_000257.4(MYH7):c.4459G>A (p.Ala1487Thr)
|
rs766909770
|
0.00001
|
NM_000257.4(MYH7):c.4487A>C (p.Glu1496Ala)
|
rs397516218
|
0.00001
|
NM_000257.4(MYH7):c.4588C>T (p.Arg1530Ter)
|
rs397516225
|
0.00001
|
NM_000257.4(MYH7):c.4606G>A (p.Glu1536Lys)
|
rs779315151
|
0.00001
|
NM_000257.4(MYH7):c.4679G>A (p.Arg1560Gln)
|
rs730880806
|
0.00001
|
NM_000257.4(MYH7):c.4717G>A (p.Glu1573Lys)
|
rs750987717
|
0.00001
|
NM_000257.4(MYH7):c.4763G>A (p.Arg1588His)
|
rs797044600
|
0.00001
|
NM_000257.4(MYH7):c.4807G>A (p.Ala1603Thr)
|
rs730880809
|
0.00001
|
NM_000257.4(MYH7):c.4816C>T (p.Arg1606Cys)
|
rs200530211
|
0.00001
|
NM_000257.4(MYH7):c.4817G>A (p.Arg1606His)
|
rs373514686
|
0.00001
|
NM_000257.4(MYH7):c.4823G>A (p.Arg1608His)
|
rs587779391
|
0.00001
|
NM_000257.4(MYH7):c.4864C>T (p.Leu1622Phe)
|
rs397516231
|
0.00001
|
NM_000257.4(MYH7):c.4984C>T (p.Arg1662Cys)
|
rs773977507
|
0.00001
|
NM_000257.4(MYH7):c.5011A>G (p.Ile1671Val)
|
rs1456418703
|
0.00001
|
NM_000257.4(MYH7):c.5014G>A (p.Ala1672Thr)
|
rs550015662
|
0.00001
|
NM_000257.4(MYH7):c.5026C>T (p.Arg1676Trp)
|
rs753115999
|
0.00001
|
NM_000257.4(MYH7):c.5029C>T (p.Arg1677Cys)
|
rs377461670
|
0.00001
|
NM_000257.4(MYH7):c.5030G>A (p.Arg1677His)
|
rs730880914
|
0.00001
|
NM_000257.4(MYH7):c.5037C>G (p.Asn1679Lys)
|
rs1358888752
|
0.00001
|
NM_000257.4(MYH7):c.5065C>T (p.Arg1689Cys)
|
rs730880915
|
0.00001
|
NM_000257.4(MYH7):c.5066G>A (p.Arg1689His)
|
rs772008016
|
0.00001
|
NM_000257.4(MYH7):c.50G>A (p.Arg17His)
|
rs727503280
|
0.00001
|
NM_000257.4(MYH7):c.5120T>C (p.Ile1707Thr)
|
rs730880811
|
0.00001
|
NM_000257.4(MYH7):c.5129G>C (p.Ser1710Thr)
|
rs869279274
|
0.00001
|
NM_000257.4(MYH7):c.5191G>A (p.Asp1731Asn)
|
rs876657885
|
0.00001
|
NM_000257.4(MYH7):c.5203T>A (p.Ser1735Thr)
|
rs144066768
|
0.00001
|
NM_000257.4(MYH7):c.5229G>T (p.Glu1743Asp)
|
rs149509691
|
0.00001
|
NM_000257.4(MYH7):c.5251G>A (p.Ala1751Thr)
|
rs1892151210
|
0.00001
|
NM_000257.4(MYH7):c.530C>T (p.Thr177Ile)
|
rs752930302
|
0.00001
|
NM_000257.4(MYH7):c.531-5C>T
|
rs397516243
|
0.00001
|
NM_000257.4(MYH7):c.5341C>T (p.Arg1781Cys)
|
rs397516245
|
0.00001
|
NM_000257.4(MYH7):c.5386C>T (p.Arg1796Trp)
|
rs748598020
|
0.00001
|
NM_000257.4(MYH7):c.541G>A (p.Gly181Arg)
|
rs760187215
|
0.00001
|
NM_000257.4(MYH7):c.5450C>T (p.Ala1817Val)
|
rs1469786429
|
0.00001
|
NM_000257.4(MYH7):c.5452C>T (p.Arg1818Trp)
|
rs763073072
|
0.00001
|
NM_000257.4(MYH7):c.5500G>A (p.Ala1834Thr)
|
rs143362532
|
0.00001
|
NM_000257.4(MYH7):c.5519T>C (p.Met1840Thr)
|
rs149193520
|
0.00001
|
NM_000257.4(MYH7):c.5530G>A (p.Glu1844Lys)
|
rs730880821
|
0.00001
|
NM_000257.4(MYH7):c.5588G>A (p.Arg1863Gln)
|
rs45520836
|
0.00001
|
NM_000257.4(MYH7):c.5606A>G (p.Asp1869Gly)
|
rs730880824
|
0.00001
|
NM_000257.4(MYH7):c.5671A>G (p.Thr1891Ala)
|
rs1295948508
|
0.00001
|
NM_000257.4(MYH7):c.5737G>A (p.Ala1913Thr)
|
rs747451109
|
0.00001
|
NM_000257.4(MYH7):c.5749G>T (p.Val1917Phe)
|
rs397516255
|
0.00001
|
NM_000257.4(MYH7):c.5757G>C (p.Lys1919Asn)
|
rs1343372308
|
0.00001
|
NM_000257.4(MYH7):c.5762G>A (p.Arg1921Gln)
|
rs397516256
|
0.00001
|
NM_000257.4(MYH7):c.5774G>A (p.Arg1925His)
|
rs752553589
|
0.00001
|
NM_000257.4(MYH7):c.610C>T (p.Arg204Cys)
|
rs397516259
|
0.00001
|
NM_000257.4(MYH7):c.619A>C (p.Lys207Gln)
|
rs727504273
|
0.00001
|
NM_000257.4(MYH7):c.664C>A (p.Gln222Lys)
|
rs1060501445
|
0.00001
|
NM_000257.4(MYH7):c.821T>C (p.Ile274Thr)
|
rs773456019
|
0.00001
|
NM_000257.4(MYH7):c.898A>T (p.Met300Leu)
|
rs759998697
|
0.00001
|
NM_000258.3(MYL3):c.106G>A (p.Glu36Lys)
|
rs749941468
|
0.00001
|
NM_000258.3(MYL3):c.194C>G (p.Pro65Arg)
|
rs730880955
|
0.00001
|
NM_000258.3(MYL3):c.235G>A (p.Val79Ile)
|
rs150634297
|
0.00001
|
NM_000258.3(MYL3):c.241C>T (p.Arg81Trp)
|
rs761891361
|
0.00001
|
NM_000258.3(MYL3):c.32A>T (p.Asp11Val)
|
rs1227232995
|
0.00001
|
NM_000258.3(MYL3):c.433A>G (p.Asn145Asp)
|
rs1204710752
|
0.00001
|
NM_000258.3(MYL3):c.575dup (p.Met193fs)
|
rs757730888
|
0.00001
|
NM_000258.3(MYL3):c.70G>A (p.Ala24Thr)
|
rs758048820
|
0.00001
|
NM_000258.3(MYL3):c.71C>T (p.Ala24Val)
|
rs373278317
|
0.00001
|
NM_000258.3(MYL3):c.73C>T (p.Pro25Ser)
|
rs369256548
|
0.00001
|
NM_000335.5(SCN5A):c.1036G>A (p.Glu346Lys)
|
rs368552426
|
0.00001
|
NM_000335.5(SCN5A):c.1051G>A (p.Gly351Ser)
|
rs201276017
|
0.00001
|
NM_000335.5(SCN5A):c.1141-4C>T
|
rs794728840
|
0.00001
|
NM_000335.5(SCN5A):c.1297C>T (p.Arg433Cys)
|
rs374866214
|
0.00001
|
NM_000335.5(SCN5A):c.1298G>A (p.Arg433His)
|
rs879035421
|
0.00001
|
NM_000335.5(SCN5A):c.1313T>C (p.Met438Thr)
|
rs41311061
|
0.00001
|
NM_000335.5(SCN5A):c.1324A>G (p.Lys442Glu)
|
rs1293526829
|
0.00001
|
NM_000335.5(SCN5A):c.1398G>T (p.Leu466Phe)
|
rs776541865
|
0.00001
|
NM_000335.5(SCN5A):c.1405G>A (p.Val469Ile)
|
rs371911318
|
0.00001
|
NM_000335.5(SCN5A):c.1537C>T (p.Arg513Cys)
|
rs145733679
|
0.00001
|
NM_000335.5(SCN5A):c.1604G>A (p.Arg535Gln)
|
rs199473121
|
0.00001
|
NM_000335.5(SCN5A):c.1613G>A (p.Gly538Asp)
|
rs779486899
|
0.00001
|
NM_000335.5(SCN5A):c.1670A>T (p.His557Leu)
|
rs1026788049
|
0.00001
|
NM_000335.5(SCN5A):c.1700T>A (p.Leu567Gln)
|
rs199473124
|
0.00001
|
NM_000335.5(SCN5A):c.1820G>T (p.Gly607Val)
|
rs757119370
|
0.00001
|
NM_000335.5(SCN5A):c.1873G>C (p.Glu625Gln)
|
rs201552126
|
0.00001
|
NM_000335.5(SCN5A):c.1946G>A (p.Cys649Tyr)
|
rs1380959630
|
0.00001
|
NM_000335.5(SCN5A):c.1951G>C (p.Asp651His)
|
rs794728927
|
0.00001
|
NM_000335.5(SCN5A):c.2038C>T (p.Arg680Cys)
|
rs376173627
|
0.00001
|
NM_000335.5(SCN5A):c.203A>G (p.Tyr68Cys)
|
rs1382838539
|
0.00001
|
NM_000335.5(SCN5A):c.2081A>G (p.Tyr694Cys)
|
rs1438675647
|
0.00001
|
NM_000335.5(SCN5A):c.209A>G (p.Asn70Ser)
|
rs368357262
|
0.00001
|
NM_000335.5(SCN5A):c.2236G>A (p.Glu746Lys)
|
rs199473582
|
0.00001
|
NM_000335.5(SCN5A):c.2353G>A (p.Asp785Asn)
|
rs2061686855
|
0.00001
|
NM_000335.5(SCN5A):c.2398C>T (p.Arg800Cys)
|
rs764252430
|
0.00001
|
NM_000335.5(SCN5A):c.2399G>A (p.Arg800His)
|
rs566251672
|
0.00001
|
NM_000335.5(SCN5A):c.2432G>A (p.Arg811His)
|
rs769349991
|
0.00001
|
NM_000335.5(SCN5A):c.2437-3C>T
|
rs1289539591
|
0.00001
|
NM_000335.5(SCN5A):c.2497G>A (p.Gly833Arg)
|
rs45475899
|
0.00001
|
NM_000335.5(SCN5A):c.2506G>A (p.Val836Met)
|
rs768289937
|
0.00001
|
NM_000335.5(SCN5A):c.2548G>A (p.Val850Met)
|
rs911293694
|
0.00001
|
NM_000335.5(SCN5A):c.2570G>A (p.Gly857Asp)
|
rs757302500
|
0.00001
|
NM_000335.5(SCN5A):c.2614G>A (p.Asp872Asn)
|
rs763396298
|
0.00001
|
NM_000335.5(SCN5A):c.2708T>C (p.Met903Thr)
|
rs1341909190
|
0.00001
|
NM_000335.5(SCN5A):c.2859C>G (p.Asp953Glu)
|
rs762818132
|
0.00001
|
NM_000335.5(SCN5A):c.2893C>T (p.Arg965Cys)
|
rs199473180
|
0.00001
|
NM_000335.5(SCN5A):c.2912G>A (p.Arg971His)
|
rs749651069
|
0.00001
|
NM_000335.5(SCN5A):c.2977G>A (p.Ala993Thr)
|
rs770088052
|
0.00001
|
NM_000335.5(SCN5A):c.3020C>T (p.Thr1007Ile)
|
rs763935970
|
0.00001
|
NM_000335.5(SCN5A):c.3061C>T (p.Pro1021Ser)
|
rs794728871
|
0.00001
|
NM_000335.5(SCN5A):c.3079C>T (p.Arg1027Trp)
|
rs1455337011
|
0.00001
|
NM_000335.5(SCN5A):c.3133G>A (p.Val1045Met)
|
rs527480102
|
0.00001
|
NM_000335.5(SCN5A):c.3282G>T (p.Trp1094Cys)
|
rs759924541
|
0.00001
|
NM_000335.5(SCN5A):c.3365C>T (p.Pro1122Leu)
|
rs1447666161
|
0.00001
|
NM_000335.5(SCN5A):c.3503C>T (p.Thr1168Ile)
|
rs779305181
|
0.00001
|
NM_000335.5(SCN5A):c.3601G>A (p.Val1201Met)
|
rs375509048
|
0.00001
|
NM_000335.5(SCN5A):c.3659C>T (p.Ala1220Val)
|
rs727503407
|
0.00001
|
NM_000335.5(SCN5A):c.3947T>G (p.Phe1316Cys)
|
rs762546813
|
0.00001
|
NM_000335.5(SCN5A):c.4218C>T (p.Ala1406=)
|
rs373042738
|
0.00001
|
NM_000335.5(SCN5A):c.4243-4C>T
|
rs772447988
|
0.00001
|
NM_000335.5(SCN5A):c.4297T>G (p.Tyr1433Asp)
|
rs888787757
|
0.00001
|
NM_000335.5(SCN5A):c.4400T>C (p.Val1467Ala)
|
rs794728883
|
0.00001
|
NM_000335.5(SCN5A):c.4497G>T (p.Lys1499Asn)
|
rs199473265
|
0.00001
|
NM_000335.5(SCN5A):c.4670A>G (p.Asn1557Ser)
|
rs1559725648
|
0.00001
|
NM_000335.5(SCN5A):c.4672A>G (p.Ile1558Val)
|
rs779999584
|
0.00001
|
NM_000335.5(SCN5A):c.4804A>T (p.Ile1602Phe)
|
rs1441099546
|
0.00001
|
NM_000335.5(SCN5A):c.4823C>T (p.Ser1608Leu)
|
rs199473622
|
0.00001
|
NM_000335.5(SCN5A):c.5236G>A (p.Val1746Met)
|
rs199473630
|
0.00001
|
NM_000335.5(SCN5A):c.5339A>G (p.Glu1780Gly)
|
rs1217594631
|
0.00001
|
NM_000335.5(SCN5A):c.5375T>A (p.Met1792Lys)
|
rs794728897
|
0.00001
|
NM_000335.5(SCN5A):c.5455G>A (p.Ala1819Thr)
|
rs764188413
|
0.00001
|
NM_000335.5(SCN5A):c.5494A>G (p.Ile1832Val)
|
rs1559720461
|
0.00001
|
NM_000335.5(SCN5A):c.5548A>G (p.Met1850Val)
|
rs1270249744
|
0.00001
|
NM_000335.5(SCN5A):c.5554A>G (p.Ile1852Val)
|
rs1348016844
|
0.00001
|
NM_000335.5(SCN5A):c.5605G>A (p.Ala1869Thr)
|
rs794728939
|
0.00001
|
NM_000335.5(SCN5A):c.5606C>A (p.Ala1869Asp)
|
rs727504759
|
0.00001
|
NM_000335.5(SCN5A):c.5687G>A (p.Arg1896Gln)
|
rs761369505
|
0.00001
|
NM_000335.5(SCN5A):c.5690G>A (p.Arg1897His)
|
rs370694515
|
0.00001
|
NM_000335.5(SCN5A):c.5740C>T (p.His1914Tyr)
|
rs762462124
|
0.00001
|
NM_000335.5(SCN5A):c.5753G>A (p.Arg1918His)
|
rs141107387
|
0.00001
|
NM_000335.5(SCN5A):c.5762A>G (p.Lys1921Arg)
|
rs1485680130
|
0.00001
|
NM_000335.5(SCN5A):c.5900T>G (p.Ile1967Ser)
|
rs199473639
|
0.00001
|
NM_000335.5(SCN5A):c.5965G>C (p.Val1989Leu)
|
rs765885732
|
0.00001
|
NM_000335.5(SCN5A):c.5984G>A (p.Ser1995Asn)
|
rs1299022904
|
0.00001
|
NM_000335.5(SCN5A):c.6011C>T (p.Pro2004Leu)
|
rs779649600
|
0.00001
|
NM_000335.5(SCN5A):c.6032G>A (p.Arg2011His)
|
rs774244998
|
0.00001
|
NM_000335.5(SCN5A):c.605T>C (p.Ile202Thr)
|
rs1469078045
|
0.00001
|
NM_000335.5(SCN5A):c.616A>T (p.Thr206Ser)
|
rs1484635042
|
0.00001
|
NM_000335.5(SCN5A):c.680T>C (p.Leu227Pro)
|
rs760011764
|
0.00001
|
NM_000335.5(SCN5A):c.872A>G (p.Asn291Ser)
|
rs199473563
|
0.00001
|
NM_000335.5(SCN5A):c.934+5G>A
|
rs201672269
|
0.00001
|
NM_000335.5(SCN5A):c.944T>C (p.Leu315Pro)
|
rs199473564
|
0.00001
|
NM_000335.5(SCN5A):c.9C>G (p.Asn3Lys)
|
rs377500015
|
0.00001
|
NM_000363.5(TNNI3):c.146dup (p.Lys50fs)
|
rs1162696593
|
0.00001
|
NM_000363.5(TNNI3):c.167T>C (p.Ile56Thr)
|
rs545441942
|
0.00001
|
NM_000363.5(TNNI3):c.250G>T (p.Glu84Ter)
|
rs759523214
|
0.00001
|
NM_000363.5(TNNI3):c.307C>T (p.Arg103Cys)
|
rs397516344
|
0.00001
|
NM_000363.5(TNNI3):c.322G>A (p.Asp108Asn)
|
rs766958196
|
0.00001
|
NM_000363.5(TNNI3):c.331A>G (p.Arg111Gly)
|
rs730881088
|
0.00001
|
NM_000363.5(TNNI3):c.341T>C (p.Ile114Thr)
|
rs762692450
|
0.00001
|
NM_000363.5(TNNI3):c.370G>C (p.Glu124Gln)
|
rs727503506
|
0.00001
|
NM_000363.5(TNNI3):c.421C>T (p.Arg141Trp)
|
rs730881071
|
0.00001
|
NM_000363.5(TNNI3):c.482C>T (p.Ala161Val)
|
rs753413305
|
0.00001
|
NM_000363.5(TNNI3):c.604G>C (p.Glu202Gln)
|
rs1470970097
|
0.00001
|
NM_000371.4(TTR):c.227A>G (p.His76Arg)
|
rs78230119
|
0.00001
|
NM_000371.4(TTR):c.301G>A (p.Ala101Thr)
|
rs730881165
|
0.00001
|
NM_000371.4(TTR):c.336+5G>A
|
rs2073511528
|
0.00001
|
NM_000371.4(TTR):c.337-3T>C
|
rs774027595
|
0.00001
|
NM_000371.4(TTR):c.406T>C (p.Tyr136His)
|
rs766909913
|
0.00001
|
NM_000371.4(TTR):c.65C>T (p.Pro22Leu)
|
rs1215630426
|
0.00001
|
NM_000371.4(TTR):c.69G>A (p.Thr23=)
|
rs752579437
|
0.00001
|
NM_000371.4(TTR):c.70-16T>C
|
rs759512847
|
0.00001
|
NM_000371.4(TTR):c.88T>C (p.Cys30Arg)
|
rs121918083
|
0.00001
|
NM_000384.3(APOB):c.10132C>A (p.Gln3378Lys)
|
rs1266425413
|
0.00001
|
NM_000384.3(APOB):c.10244G>C (p.Ser3415Thr)
|
rs750477821
|
0.00001
|
NM_000384.3(APOB):c.10304T>C (p.Ile3435Thr)
|
rs768980816
|
0.00001
|
NM_000384.3(APOB):c.10351A>C (p.Lys3451Gln)
|
rs769074061
|
0.00001
|
NM_000384.3(APOB):c.10477G>A (p.Glu3493Lys)
|
rs1251501652
|
0.00001
|
NM_000384.3(APOB):c.10486A>G (p.Thr3496Ala)
|
rs754800464
|
0.00001
|
NM_000384.3(APOB):c.10514T>C (p.Leu3505Pro)
|
rs977746971
|
0.00001
|
NM_000384.3(APOB):c.10679A>G (p.Tyr3560Cys)
|
rs745721296
|
0.00001
|
NM_000384.3(APOB):c.1076G>C (p.Ser359Thr)
|
rs1156947034
|
0.00001
|
NM_000384.3(APOB):c.10807C>T (p.His3603Tyr)
|
rs750646887
|
0.00001
|
NM_000384.3(APOB):c.11092A>G (p.Arg3698Gly)
|
rs757756141
|
0.00001
|
NM_000384.3(APOB):c.11261C>T (p.Thr3754Ile)
|
rs139599466
|
0.00001
|
NM_000384.3(APOB):c.11279C>T (p.Ser3760Leu)
|
rs779036508
|
0.00001
|
NM_000384.3(APOB):c.11563A>G (p.Ile3855Val)
|
rs762255105
|
0.00001
|
NM_000384.3(APOB):c.11575G>A (p.Glu3859Lys)
|
rs1378283331
|
0.00001
|
NM_000384.3(APOB):c.11593C>T (p.Pro3865Ser)
|
rs746011115
|
0.00001
|
NM_000384.3(APOB):c.11681A>T (p.Tyr3894Phe)
|
rs775669767
|
0.00001
|
NM_000384.3(APOB):c.11929A>C (p.Asn3977His)
|
rs761528809
|
0.00001
|
NM_000384.3(APOB):c.11989A>G (p.Ile3997Val)
|
rs750147672
|
0.00001
|
NM_000384.3(APOB):c.12200T>C (p.Leu4067Pro)
|
rs1165268481
|
0.00001
|
NM_000384.3(APOB):c.12343G>T (p.Val4115Phe)
|
rs765681925
|
0.00001
|
NM_000384.3(APOB):c.12436G>A (p.Asp4146Asn)
|
rs778195760
|
0.00001
|
NM_000384.3(APOB):c.12511G>A (p.Val4171Met)
|
rs768472814
|
0.00001
|
NM_000384.3(APOB):c.12548A>G (p.His4183Arg)
|
rs758266841
|
0.00001
|
NM_000384.3(APOB):c.12635C>G (p.Thr4212Ser)
|
rs201208445
|
0.00001
|
NM_000384.3(APOB):c.12739C>T (p.Gln4247Ter)
|
rs907126709
|
0.00001
|
NM_000384.3(APOB):c.12889C>T (p.Arg4297Cys)
|
rs761260344
|
0.00001
|
NM_000384.3(APOB):c.12930A>G (p.Ile4310Met)
|
rs1424419652
|
0.00001
|
NM_000384.3(APOB):c.12977T>A (p.Ile4326Asn)
|
rs763668912
|
0.00001
|
NM_000384.3(APOB):c.12979A>T (p.Asn4327Tyr)
|
rs755734023
|
0.00001
|
NM_000384.3(APOB):c.13422G>C (p.Gln4474His)
|
rs146661220
|
0.00001
|
NM_000384.3(APOB):c.1349A>G (p.Asn450Ser)
|
rs1177893034
|
0.00001
|
NM_000384.3(APOB):c.1357C>G (p.His453Asp)
|
rs753380675
|
0.00001
|
NM_000384.3(APOB):c.148C>T (p.Arg50Trp)
|
rs749903604
|
0.00001
|
NM_000384.3(APOB):c.1786C>T (p.His596Tyr)
|
rs1461214675
|
0.00001
|
NM_000384.3(APOB):c.1844T>C (p.Val615Ala)
|
rs1301197571
|
0.00001
|
NM_000384.3(APOB):c.187G>A (p.Gly63Arg)
|
rs904819460
|
0.00001
|
NM_000384.3(APOB):c.1880T>C (p.Val627Ala)
|
rs1295444626
|
0.00001
|
NM_000384.3(APOB):c.1904G>A (p.Arg635Gln)
|
rs202001155
|
0.00001
|
NM_000384.3(APOB):c.2027C>T (p.Thr676Ile)
|
rs1157714858
|
0.00001
|
NM_000384.3(APOB):c.2599G>A (p.Ala867Thr)
|
rs764058064
|
0.00001
|
NM_000384.3(APOB):c.2691T>G (p.Ser897Arg)
|
rs144806800
|
0.00001
|
NM_000384.3(APOB):c.2723A>G (p.Glu908Gly)
|
rs1459816013
|
0.00001
|
NM_000384.3(APOB):c.2849C>T (p.Thr950Met)
|
rs187506285
|
0.00001
|
NM_000384.3(APOB):c.2861C>T (p.Pro954Leu)
|
rs148943299
|
0.00001
|
NM_000384.3(APOB):c.2864C>T (p.Pro955Leu)
|
rs763052786
|
0.00001
|
NM_000384.3(APOB):c.3052G>A (p.Ala1018Thr)
|
rs149357946
|
0.00001
|
NM_000384.3(APOB):c.3122G>A (p.Gly1041Asp)
|
rs756341086
|
0.00001
|
NM_000384.3(APOB):c.3147G>C (p.Met1049Ile)
|
rs556469321
|
0.00001
|
NM_000384.3(APOB):c.3208G>A (p.Asp1070Asn)
|
rs368268089
|
0.00001
|
NM_000384.3(APOB):c.3400A>G (p.Arg1134Gly)
|
rs769299791
|
0.00001
|
NM_000384.3(APOB):c.3431C>A (p.Ala1144Asp)
|
rs758023800
|
0.00001
|
NM_000384.3(APOB):c.3671G>A (p.Arg1224Gln)
|
rs530511188
|
0.00001
|
NM_000384.3(APOB):c.386A>G (p.Tyr129Cys)
|
rs201368319
|
0.00001
|
NM_000384.3(APOB):c.3979G>A (p.Gly1327Arg)
|
rs760203474
|
0.00001
|
NM_000384.3(APOB):c.4027C>T (p.Pro1343Ser)
|
rs374427541
|
0.00001
|
NM_000384.3(APOB):c.4072C>T (p.Leu1358Phe)
|
rs565963363
|
0.00001
|
NM_000384.3(APOB):c.4376G>A (p.Ser1459Asn)
|
rs1393100780
|
0.00001
|
NM_000384.3(APOB):c.4418C>A (p.Ser1473Tyr)
|
rs866813485
|
0.00001
|
NM_000384.3(APOB):c.460C>G (p.Leu154Val)
|
rs914357651
|
0.00001
|
NM_000384.3(APOB):c.4808A>T (p.Gln1603Leu)
|
rs369598286
|
0.00001
|
NM_000384.3(APOB):c.5507T>G (p.Ile1836Arg)
|
rs772402035
|
0.00001
|
NM_000384.3(APOB):c.5617G>A (p.Ala1873Thr)
|
rs750451480
|
0.00001
|
NM_000384.3(APOB):c.5767C>T (p.His1923Tyr)
|
rs746220914
|
0.00001
|
NM_000384.3(APOB):c.638A>T (p.Asp213Val)
|
rs370711366
|
0.00001
|
NM_000384.3(APOB):c.6467T>C (p.Ile2156Thr)
|
rs1232529396
|
0.00001
|
NM_000384.3(APOB):c.6673A>G (p.Thr2225Ala)
|
rs1037831178
|
0.00001
|
NM_000384.3(APOB):c.6707T>C (p.Ile2236Thr)
|
rs781584312
|
0.00001
|
NM_000384.3(APOB):c.6764A>C (p.Lys2255Thr)
|
rs1249838546
|
0.00001
|
NM_000384.3(APOB):c.679C>G (p.Leu227Val)
|
rs146880648
|
0.00001
|
NM_000384.3(APOB):c.6974T>C (p.Ile2325Thr)
|
rs1315050421
|
0.00001
|
NM_000384.3(APOB):c.7603T>C (p.Tyr2535His)
|
rs146593015
|
0.00001
|
NM_000384.3(APOB):c.765T>A (p.His255Gln)
|
rs543698457
|
0.00001
|
NM_000384.3(APOB):c.7717T>G (p.Trp2573Gly)
|
rs763937444
|
0.00001
|
NM_000384.3(APOB):c.7893A>G (p.Ile2631Met)
|
rs1159771283
|
0.00001
|
NM_000384.3(APOB):c.7979C>T (p.Ser2660Phe)
|
rs1408828737
|
0.00001
|
NM_000384.3(APOB):c.8111C>T (p.Ala2704Val)
|
rs201874707
|
0.00001
|
NM_000384.3(APOB):c.8227C>G (p.Leu2743Val)
|
rs777302365
|
0.00001
|
NM_000384.3(APOB):c.8243A>G (p.His2748Arg)
|
rs1049705142
|
0.00001
|
NM_000384.3(APOB):c.8276A>G (p.Tyr2759Cys)
|
rs370153092
|
0.00001
|
NM_000384.3(APOB):c.8394G>T (p.Glu2798Asp)
|
rs760517113
|
0.00001
|
NM_000384.3(APOB):c.844G>A (p.Val282Met)
|
rs1449402340
|
0.00001
|
NM_000384.3(APOB):c.8849T>C (p.Ile2950Thr)
|
rs141591543
|
0.00001
|
NM_000384.3(APOB):c.9202A>G (p.Ile3068Val)
|
rs778492524
|
0.00001
|
NM_000384.3(APOB):c.9713C>T (p.Ser3238Phe)
|
rs777546847
|
0.00001
|
NM_000384.3(APOB):c.9770A>G (p.Asn3257Ser)
|
rs146178619
|
0.00001
|
NM_000384.3(APOB):c.9794T>C (p.Ile3265Thr)
|
rs1193351124
|
0.00001
|
NM_000384.3(APOB):c.9818T>C (p.Val3273Ala)
|
rs1302665094
|
0.00001
|
NM_000432.4(MYL2):c.-2C>T
|
rs730880938
|
0.00001
|
NM_000432.4(MYL2):c.125G>A (p.Gly42Asp)
|
rs863225117
|
0.00001
|
NM_000432.4(MYL2):c.170-1G>A
|
rs1566148738
|
0.00001
|
NM_000432.4(MYL2):c.170G>A (p.Gly57Glu)
|
rs199474809
|
0.00001
|
NM_000432.4(MYL2):c.20A>G (p.Lys7Arg)
|
rs1344327792
|
0.00001
|
NM_000432.4(MYL2):c.229A>G (p.Ile77Val)
|
rs373475989
|
0.00001
|
NM_000432.4(MYL2):c.23A>G (p.Lys8Arg)
|
rs886039195
|
0.00001
|
NM_000432.4(MYL2):c.255G>A (p.Met85Ile)
|
rs1385880379
|
0.00001
|
NM_000432.4(MYL2):c.257T>C (p.Phe86Ser)
|
rs730880950
|
0.00001
|
NM_000432.4(MYL2):c.358C>G (p.Arg120Gly)
|
rs397516404
|
0.00001
|
NM_000432.4(MYL2):c.428C>T (p.Pro143Leu)
|
rs727504341
|
0.00001
|
NM_000527.4(LDLR):c.-120C>T
|
rs875989886
|
0.00001
|
NM_000527.5(LDLR):c.1112T>C (p.Leu371Pro)
|
rs1060499920
|
0.00001
|
NM_000527.5(LDLR):c.1133A>C (p.Gln378Pro)
|
rs730882098
|
0.00001
|
NM_000527.5(LDLR):c.1186+5G>C
|
rs879254821
|
0.00001
|
NM_000527.5(LDLR):c.1195G>A (p.Ala399Thr)
|
rs730882099
|
0.00001
|
NM_000527.5(LDLR):c.1367T>C (p.Leu456Pro)
|
rs200143634
|
0.00001
|
NM_000527.5(LDLR):c.1393T>A (p.Tyr465Asn)
|
rs730882101
|
0.00001
|
NM_000527.5(LDLR):c.1435C>G (p.Leu479Val)
|
rs1254928151
|
0.00001
|
NM_000527.5(LDLR):c.1496C>G (p.Ser499Cys)
|
rs766929574
|
0.00001
|
NM_000527.5(LDLR):c.1575T>G (p.Asp525Glu)
|
rs763884010
|
0.00001
|
NM_000527.5(LDLR):c.1817C>A (p.Ala606Asp)
|
rs1410295777
|
0.00001
|
NM_000527.5(LDLR):c.1845G>A (p.Glu615=)
|
rs879255047
|
0.00001
|
NM_000527.5(LDLR):c.1951G>A (p.Asp651Asn)
|
rs730882110
|
0.00001
|
NM_000527.5(LDLR):c.1981C>A (p.Pro661Thr)
|
rs1182317785
|
0.00001
|
NM_000527.5(LDLR):c.2119G>A (p.Asp707Asn)
|
rs879255142
|
0.00001
|
NM_000527.5(LDLR):c.2440C>T (p.Arg814Trp)
|
rs746616623
|
0.00001
|
NM_000527.5(LDLR):c.337G>A (p.Glu113Lys)
|
rs769383881
|
0.00001
|
NM_000527.5(LDLR):c.451G>C (p.Ala151Pro)
|
rs763233960
|
0.00001
|
NM_000527.5(LDLR):c.846C>A (p.Phe282Leu)
|
rs730882090
|
0.00001
|
NM_000527.5(LDLR):c.859G>A (p.Gly287Ser)
|
rs375495026
|
0.00001
|
NM_000527.5(LDLR):c.892A>G (p.Met298Val)
|
rs730882092
|
0.00001
|
NM_000527.5(LDLR):c.908G>A (p.Arg303Gln)
|
rs730882093
|
0.00001
|
NM_000719.7(CACNA1C):c.-3T>C
|
rs761790520
|
0.00001
|
NM_000719.7(CACNA1C):c.1097C>T (p.Thr366Met)
|
rs1429990170
|
0.00001
|
NM_000719.7(CACNA1C):c.1113+4C>T
|
rs747800763
|
0.00001
|
NM_000719.7(CACNA1C):c.1215C>T (p.Ser405=)
|
rs780409021
|
0.00001
|
NM_000719.7(CACNA1C):c.130C>G (p.Pro44Ala)
|
rs1057518456
|
0.00001
|
NM_000719.7(CACNA1C):c.1333G>A (p.Glu445Lys)
|
rs1238581042
|
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.1453G>A (p.Glu485Lys)
|
rs763065970
|
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.169G>A (p.Asp57Asn)
|
rs773528195
|
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.1864G>A (p.Val622Ile)
|
rs768270021
|
0.00001
|
NM_000719.7(CACNA1C):c.2045T>C (p.Met682Thr)
|
rs1429541061
|
0.00001
|
NM_000719.7(CACNA1C):c.2381C>T (p.Pro794Leu)
|
rs771393283
|
0.00001
|
NM_000719.7(CACNA1C):c.2398A>C (p.Lys800Gln)
|
rs779009338
|
0.00001
|
NM_000719.7(CACNA1C):c.247C>T (p.Arg83Trp)
|
rs886039214
|
0.00001
|
NM_000719.7(CACNA1C):c.2506C>T (p.Pro836Ser)
|
rs1042919299
|
0.00001
|
NM_000719.7(CACNA1C):c.2579G>A (p.Arg860Gln)
|
rs730880056
|
0.00001
|
NM_000719.7(CACNA1C):c.3161A>G (p.Lys1054Arg)
|
rs1305965146
|
0.00001
|
NM_000719.7(CACNA1C):c.3220A>G (p.Ile1074Val)
|
rs786205779
|
0.00001
|
NM_000719.7(CACNA1C):c.3235G>A (p.Gly1079Arg)
|
rs781440831
|
0.00001
|
NM_000719.7(CACNA1C):c.3331G>A (p.Val1111Ile)
|
rs766023530
|
0.00001
|
NM_000719.7(CACNA1C):c.3556C>G (p.Gln1186Glu)
|
rs890686445
|
0.00001
|
NM_000719.7(CACNA1C):c.3560G>A (p.Arg1187Gln)
|
rs368861681
|
0.00001
|
NM_000719.7(CACNA1C):c.3717+4A>G
|
rs1184709095
|
0.00001
|
NM_000719.7(CACNA1C):c.3718-3C>T
|
rs1267424726
|
0.00001
|
NM_000719.7(CACNA1C):c.3949G>A (p.Ala1317Thr)
|
rs749588699
|
0.00001
|
NM_000719.7(CACNA1C):c.4141-4C>T
|
rs745757052
|
0.00001
|
NM_000719.7(CACNA1C):c.4381A>G (p.Met1461Val)
|
rs200206894
|
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.5225C>T (p.Ser1742Leu)
|
rs375571032
|
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.5441A>G (p.Asn1814Ser)
|
rs780210232
|
0.00001
|
NM_000719.7(CACNA1C):c.5486A>G (p.Glu1829Gly)
|
rs1350126839
|
0.00001
|
NM_000719.7(CACNA1C):c.5600G>A (p.Arg1867Gln)
|
rs535350857
|
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.5929G>A (p.Val1977Ile)
|
rs786205741
|
0.00001
|
NM_000719.7(CACNA1C):c.5932G>A (p.Glu1978Lys)
|
rs765320988
|
0.00001
|
NM_000719.7(CACNA1C):c.6007G>A (p.Gly2003Arg)
|
rs886038918
|
0.00001
|
NM_000719.7(CACNA1C):c.6055C>G (p.Pro2019Ala)
|
rs773185026
|
0.00001
|
NM_000719.7(CACNA1C):c.6091G>A (p.Gly2031Ser)
|
rs1464980383
|
0.00001
|
NM_000719.7(CACNA1C):c.6154G>A (p.Asp2052Asn)
|
rs957119379
|
0.00001
|
NM_000719.7(CACNA1C):c.6197C>T (p.Ala2066Val)
|
rs1216146146
|
0.00001
|
NM_000719.7(CACNA1C):c.6287C>A (p.Pro2096His)
|
rs2097781569
|
0.00001
|
NM_000719.7(CACNA1C):c.6338A>C (p.Asp2113Ala)
|
rs972053240
|
0.00001
|
NM_000719.7(CACNA1C):c.82G>A (p.Ala28Thr)
|
rs373687005
|
0.00001
|
NM_000719.7(CACNA1C):c.901C>G (p.Gln301Glu)
|
rs538921079
|
0.00001
|
NM_000719.7(CACNA1C):c.953T>C (p.Leu318Pro)
|
rs745856938
|
0.00001
|
NM_000722.4(CACNA2D1):c.1077G>A (p.Met359Ile)
|
rs1388726184
|
0.00001
|
NM_000722.4(CACNA2D1):c.149C>T (p.Thr50Ile)
|
rs1477267428
|
0.00001
|
NM_000722.4(CACNA2D1):c.1526A>G (p.Asn509Ser)
|
rs1386287681
|
0.00001
|
NM_000722.4(CACNA2D1):c.1772C>T (p.Thr591Ile)
|
rs773781850
|
0.00001
|
NM_000722.4(CACNA2D1):c.1919A>G (p.Asn640Ser)
|
rs760733417
|
0.00001
|
NM_000722.4(CACNA2D1):c.1924G>C (p.Glu642Gln)
|
rs775481386
|
0.00001
|
NM_000722.4(CACNA2D1):c.1990A>T (p.Asn664Tyr)
|
rs777463785
|
0.00001
|
NM_000722.4(CACNA2D1):c.2683G>A (p.Gly895Ser)
|
rs772889955
|
0.00001
|
NM_000722.4(CACNA2D1):c.2720C>T (p.Ala907Val)
|
rs1214105842
|
0.00001
|
NM_000722.4(CACNA2D1):c.2867C>A (p.Ser956Tyr)
|
rs768081623
|
0.00001
|
NM_000722.4(CACNA2D1):c.435A>G (p.Ile145Met)
|
rs756765026
|
0.00001
|
NM_000722.4(CACNA2D1):c.68C>T (p.Ser23Leu)
|
rs532261094
|
0.00001
|
NM_000722.4(CACNA2D1):c.735C>T (p.Ile245=)
|
rs1281680153
|
0.00001
|
NM_000722.4(CACNA2D1):c.810A>C (p.Lys270Asn)
|
rs779135778
|
0.00001
|
NM_000784.4(CYP27A1):c.1059G>T (p.Lys353Asn)
|
rs372343607
|
0.00001
|
NM_000784.4(CYP27A1):c.158G>T (p.Arg53Leu)
|
rs376993392
|
0.00001
|
NM_000784.4(CYP27A1):c.416A>G (p.Gln139Arg)
|
rs1253807962
|
0.00001
|
NM_000890.5(KCNJ5):c.1133A>C (p.Gln378Pro)
|
rs544093099
|
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.259C>T (p.Arg87Cys)
|
rs781022847
|
0.00001
|
NM_000890.5(KCNJ5):c.344G>A (p.Arg115Gln)
|
rs369247802
|
0.00001
|
NM_000890.5(KCNJ5):c.590C>T (p.Ala197Val)
|
rs1389181295
|
0.00001
|
NM_000890.5(KCNJ5):c.674G>A (p.Arg225His)
|
rs772877248
|
0.00001
|
NM_000890.5(KCNJ5):c.902T>A (p.Val301Asp)
|
rs1462481036
|
0.00001
|
NM_000890.5(KCNJ5):c.938-4C>T
|
rs753186315
|
0.00001
|
NM_000891.3(KCNJ2):c.1268G>A (p.Arg423Gln)
|
rs745372216
|
0.00001
|
NM_000891.3(KCNJ2):c.389C>T (p.Thr130Met)
|
rs151168735
|
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.499G>A (p.Val167Met)
|
rs140147979
|
0.00001
|
NM_000891.3(KCNJ2):c.694C>T (p.Leu232Phe)
|
rs779856198
|
0.00001
|
NM_000891.3(KCNJ2):c.953A>G (p.Asn318Ser)
|
rs367560052
|
0.00001
|
NM_000891.3(KCNJ2):c.974G>A (p.Arg325His)
|
rs1555604000
|
0.00001
|
NM_001005242.3(PKP2):c.110A>G (p.Lys37Arg)
|
rs781400459
|
0.00001
|
NM_001005242.3(PKP2):c.1138G>A (p.Glu380Lys)
|
rs878898365
|
0.00001
|
NM_001005242.3(PKP2):c.1231G>A (p.Val411Ile)
|
rs192041220
|
0.00001
|
NM_001005242.3(PKP2):c.1367A>C (p.Lys456Thr)
|
rs750897570
|
0.00001
|
NM_001005242.3(PKP2):c.1379-5T>C
|
rs189036647
|
0.00001
|
NM_001005242.3(PKP2):c.1394T>C (p.Leu465Ser)
|
rs374163198
|
0.00001
|
NM_001005242.3(PKP2):c.1429A>G (p.Thr477Ala)
|
rs775192286
|
0.00001
|
NM_001005242.3(PKP2):c.1457A>T (p.Asn486Ile)
|
rs780349259
|
0.00001
|
NM_001005242.3(PKP2):c.14G>A (p.Gly5Asp)
|
rs774778142
|
0.00001
|
NM_001005242.3(PKP2):c.154A>G (p.Lys52Glu)
|
rs920017662
|
0.00001
|
NM_001005242.3(PKP2):c.1579G>A (p.Asp527Asn)
|
rs764193250
|
0.00001
|
NM_001005242.3(PKP2):c.158G>A (p.Ser53Asn)
|
rs776363973
|
0.00001
|
NM_001005242.3(PKP2):c.1760A>G (p.Tyr587Cys)
|
rs1060501183
|
0.00001
|
NM_001005242.3(PKP2):c.1772G>A (p.Arg591Gln)
|
rs755076586
|
0.00001
|
NM_001005242.3(PKP2):c.1784C>A (p.Thr595Asn)
|
rs1354122232
|
0.00001
|
NM_001005242.3(PKP2):c.1939G>A (p.Ala647Thr)
|
rs759920696
|
0.00001
|
NM_001005242.3(PKP2):c.1958A>G (p.Tyr653Cys)
|
rs778600610
|
0.00001
|
NM_001005242.3(PKP2):c.1989G>T (p.Gln663His)
|
rs765884775
|
0.00001
|
NM_001005242.3(PKP2):c.2017C>T (p.Pro673Ser)
|
rs757205704
|
0.00001
|
NM_001005242.3(PKP2):c.2200A>G (p.Ile734Val)
|
rs556563706
|
0.00001
|
NM_001005242.3(PKP2):c.2213T>C (p.Val738Ala)
|
rs1555141066
|
0.00001
|
NM_001005242.3(PKP2):c.2282A>G (p.Asn761Ser)
|
rs1488359220
|
0.00001
|
NM_001005242.3(PKP2):c.2317G>A (p.Gly773Arg)
|
rs766775778
|
0.00001
|
NM_001005242.3(PKP2):c.2363C>T (p.Ala788Val)
|
rs763663760
|
0.00001
|
NM_001005242.3(PKP2):c.2428C>T (p.His810Tyr)
|
rs397517023
|
0.00001
|
NM_001005242.3(PKP2):c.35A>G (p.Tyr12Cys)
|
rs763433296
|
0.00001
|
NM_001005242.3(PKP2):c.467C>T (p.Pro156Leu)
|
rs766360871
|
0.00001
|
NM_001005242.3(PKP2):c.485C>T (p.Thr162Met)
|
rs759687672
|
0.00001
|
NM_001005242.3(PKP2):c.493G>A (p.Asp165Asn)
|
rs886049322
|
0.00001
|
NM_001005242.3(PKP2):c.575C>T (p.Pro192Leu)
|
rs748566573
|
0.00001
|
NM_001005242.3(PKP2):c.713C>T (p.Pro238Leu)
|
rs560220280
|
0.00001
|
NM_001005242.3(PKP2):c.746G>A (p.Ser249Asn)
|
rs1085307949
|
0.00001
|
NM_001005242.3(PKP2):c.838G>A (p.Val280Ile)
|
rs748148237
|
0.00001
|
NM_001005242.3(PKP2):c.878G>C (p.Ser293Thr)
|
rs1323074715
|
0.00001
|
NM_001005242.3(PKP2):c.893C>A (p.Thr298Asn)
|
rs753271708
|
0.00001
|
NM_001005242.3(PKP2):c.914G>A (p.Gly305Glu)
|
rs146683466
|
0.00001
|
NM_001005242.3(PKP2):c.934T>G (p.Ser312Ala)
|
rs756604557
|
0.00001
|
NM_001018005.2(TPM1):c.106A>G (p.Ser36Gly)
|
rs1566936237
|
0.00001
|
NM_001018005.2(TPM1):c.114+3C>T
|
rs112677344
|
0.00001
|
NM_001018005.2(TPM1):c.118G>T (p.Glu40Ter)
|
rs104894501
|
0.00001
|
NM_001018005.2(TPM1):c.272G>A (p.Arg91His)
|
rs1477561695
|
0.00001
|
NM_001018005.2(TPM1):c.511A>G (p.Ile171Val)
|
rs774903903
|
0.00001
|
NM_001018005.2(TPM1):c.548C>T (p.Ala183Val)
|
rs397516376
|
0.00001
|
NM_001018005.2(TPM1):c.630G>T (p.Gln210His)
|
rs761816813
|
0.00001
|
NM_001018005.2(TPM1):c.64G>A (p.Ala22Thr)
|
rs397516382
|
0.00001
|
NM_001018005.2(TPM1):c.703-3C>T
|
rs796682308
|
0.00001
|
NM_001018005.2(TPM1):c.814G>A (p.Glu272Lys)
|
rs755226348
|
0.00001
|
NM_001018005.2(TPM1):c.82G>A (p.Asp28Asn)
|
rs397516391
|
0.00001
|
NM_001018005.2(TPM1):c.82G>C (p.Asp28His)
|
rs397516391
|
0.00001
|
NM_001018005.2(TPM1):c.840T>C (p.Asp280=)
|
rs749271066
|
0.00001
|
NM_001018005.2(TPM1):c.850A>G (p.Ile284Val)
|
rs199476322
|
0.00001
|
NM_001018005.2(TPM1):c.852-4G>A
|
rs374970923
|
0.00001
|
NM_001018005.2(TPM1):c.852-5C>T
|
rs766724527
|
0.00001
|
NM_001032283.3(TMPO):c.565+1396T>C
|
rs886038774
|
0.00001
|
NM_001035.3(RYR2):c.10142+3A>G
|
rs936725908
|
0.00001
|
NM_001035.3(RYR2):c.10174G>A (p.Ala3392Thr)
|
rs1325112585
|
0.00001
|
NM_001035.3(RYR2):c.10189C>T (p.Arg3397Cys)
|
rs764084155
|
0.00001
|
NM_001035.3(RYR2):c.10230T>C (p.His3410=)
|
rs370078129
|
0.00001
|
NM_001035.3(RYR2):c.10257C>T (p.Phe3419=)
|
rs748715725
|
0.00001
|
NM_001035.3(RYR2):c.10266G>C (p.Gln3422His)
|
rs368064371
|
0.00001
|
NM_001035.3(RYR2):c.10370A>C (p.Asp3457Ala)
|
rs544496844
|
0.00001
|
NM_001035.3(RYR2):c.10488T>G (p.Phe3496Leu)
|
rs794728768
|
0.00001
|
NM_001035.3(RYR2):c.10529G>A (p.Arg3510His)
|
rs375947003
|
0.00001
|
NM_001035.3(RYR2):c.10637A>G (p.Lys3546Arg)
|
rs1011095512
|
0.00001
|
NM_001035.3(RYR2):c.10790G>A (p.Arg3597Lys)
|
rs757494145
|
0.00001
|
NM_001035.3(RYR2):c.10897G>A (p.Glu3633Lys)
|
rs748501600
|
0.00001
|
NM_001035.3(RYR2):c.10970G>A (p.Gly3657Asp)
|
rs876661020
|
0.00001
|
NM_001035.3(RYR2):c.10973C>G (p.Thr3658Ser)
|
rs766499417
|
0.00001
|
NM_001035.3(RYR2):c.10975A>G (p.Lys3659Glu)
|
rs184527312
|
0.00001
|
NM_001035.3(RYR2):c.11270C>A (p.Ala3757Asp)
|
rs765833382
|
0.00001
|
NM_001035.3(RYR2):c.11552A>G (p.Asn3851Ser)
|
rs967116157
|
0.00001
|
NM_001035.3(RYR2):c.12057G>A (p.Met4019Ile)
|
rs763668006
|
0.00001
|
NM_001035.3(RYR2):c.12083C>T (p.Ser4028Leu)
|
rs779666612
|
0.00001
|
NM_001035.3(RYR2):c.12152C>T (p.Ala4051Val)
|
rs1326672128
|
0.00001
|
NM_001035.3(RYR2):c.12283G>A (p.Gly4095Ser)
|
rs753850982
|
0.00001
|
NM_001035.3(RYR2):c.1240C>T (p.Arg414Cys)
|
rs764698152
|
0.00001
|
NM_001035.3(RYR2):c.12638A>G (p.Glu4213Gly)
|
rs1178157004
|
0.00001
|
NM_001035.3(RYR2):c.12660A>C (p.Glu4220Asp)
|
rs1323430299
|
0.00001
|
NM_001035.3(RYR2):c.12700G>A (p.Ala4234Thr)
|
rs773317989
|
0.00001
|
NM_001035.3(RYR2):c.12767T>C (p.Met4256Thr)
|
rs530277653
|
0.00001
|
NM_001035.3(RYR2):c.1284A>T (p.Arg428Ser)
|
rs777771262
|
0.00001
|
NM_001035.3(RYR2):c.12920G>A (p.Arg4307His)
|
rs769146715
|
0.00001
|
NM_001035.3(RYR2):c.13079C>T (p.Ser4360Phe)
|
rs982384666
|
0.00001
|
NM_001035.3(RYR2):c.13081G>A (p.Glu4361Lys)
|
rs794728795
|
0.00001
|
NM_001035.3(RYR2):c.13093G>A (p.Asp4365Asn)
|
rs372880584
|
0.00001
|
NM_001035.3(RYR2):c.13216A>T (p.Met4406Leu)
|
rs1328615953
|
0.00001
|
NM_001035.3(RYR2):c.13220G>A (p.Ser4407Asn)
|
rs755585430
|
0.00001
|
NM_001035.3(RYR2):c.13283A>G (p.Glu4428Gly)
|
rs1254605642
|
0.00001
|
NM_001035.3(RYR2):c.13351G>A (p.Glu4451Lys)
|
rs780734342
|
0.00001
|
NM_001035.3(RYR2):c.13370A>G (p.Lys4457Arg)
|
rs747584325
|
0.00001
|
NM_001035.3(RYR2):c.13379A>G (p.Gln4460Arg)
|
rs762879895
|
0.00001
|
NM_001035.3(RYR2):c.1343C>T (p.Pro448Leu)
|
rs759603395
|
0.00001
|
NM_001035.3(RYR2):c.13457C>G (p.Ala4486Gly)
|
rs779309213
|
0.00001
|
NM_001035.3(RYR2):c.13615A>C (p.Ser4539Arg)
|
rs778498741
|
0.00001
|
NM_001035.3(RYR2):c.13696G>A (p.Gly4566Ser)
|
rs767716570
|
0.00001
|
NM_001035.3(RYR2):c.13743C>G (p.Val4581=)
|
rs377670364
|
0.00001
|
NM_001035.3(RYR2):c.13783-4G>A
|
rs1364773484
|
0.00001
|
NM_001035.3(RYR2):c.13984G>A (p.Gly4662Ser)
|
rs886039213
|
0.00001
|
NM_001035.3(RYR2):c.14151+1G>A
|
rs745576995
|
0.00001
|
NM_001035.3(RYR2):c.1423A>C (p.Lys475Gln)
|
rs765389300
|
0.00001
|
NM_001035.3(RYR2):c.14302G>A (p.Val4768Ile)
|
rs775534249
|
0.00001
|
NM_001035.3(RYR2):c.14369G>A (p.Arg4790Gln)
|
rs750780758
|
0.00001
|
NM_001035.3(RYR2):c.1438C>T (p.Arg480Ter)
|
rs1340830020
|
0.00001
|
NM_001035.3(RYR2):c.14841G>T (p.Arg4947Ser)
|
rs1252294768
|
0.00001
|
NM_001035.3(RYR2):c.14869T>A (p.Cys4957Ser)
|
rs758500988
|
0.00001
|
NM_001035.3(RYR2):c.14884T>A (p.Tyr4962Asn)
|
rs748937501
|
0.00001
|
NM_001035.3(RYR2):c.1504A>G (p.Ile502Val)
|
rs1309242606
|
0.00001
|
NM_001035.3(RYR2):c.1573T>G (p.Ser525Ala)
|
rs1207389001
|
0.00001
|
NM_001035.3(RYR2):c.1698A>C (p.Glu566Asp)
|
rs1397154786
|
0.00001
|
NM_001035.3(RYR2):c.1775G>A (p.Gly592Glu)
|
rs794728724
|
0.00001
|
NM_001035.3(RYR2):c.1976T>G (p.Ile659Ser)
|
rs753013388
|
0.00001
|
NM_001035.3(RYR2):c.2125G>T (p.Gly709Trp)
|
rs775143324
|
0.00001
|
NM_001035.3(RYR2):c.2203+3_2203+4dup
|
rs730880376
|
0.00001
|
NM_001035.3(RYR2):c.2215C>T (p.Arg739Cys)
|
rs1170501862
|
0.00001
|
NM_001035.3(RYR2):c.2300C>T (p.Ser767Leu)
|
rs749979131
|
0.00001
|
NM_001035.3(RYR2):c.2306G>A (p.Arg769Gln)
|
rs754901791
|
0.00001
|
NM_001035.3(RYR2):c.2364C>A (p.Phe788Leu)
|
rs776018906
|
0.00001
|
NM_001035.3(RYR2):c.2402G>T (p.Arg801Leu)
|
rs371157868
|
0.00001
|
NM_001035.3(RYR2):c.2513G>A (p.Arg838Gln)
|
rs764043352
|
0.00001
|
NM_001035.3(RYR2):c.2542C>T (p.Arg848Cys)
|
rs765102386
|
0.00001
|
NM_001035.3(RYR2):c.2603A>G (p.Asp868Gly)
|
rs1272250863
|
0.00001
|
NM_001035.3(RYR2):c.2663A>G (p.Asn888Ser)
|
rs1289969599
|
0.00001
|
NM_001035.3(RYR2):c.2941A>G (p.Met981Val)
|
rs768893657
|
0.00001
|
NM_001035.3(RYR2):c.2945A>G (p.Asp982Gly)
|
rs1461569961
|
0.00001
|
NM_001035.3(RYR2):c.2978A>G (p.Glu993Gly)
|
rs760019189
|
0.00001
|
NM_001035.3(RYR2):c.3070G>T (p.Val1024Leu)
|
rs1291873158
|
0.00001
|
NM_001035.3(RYR2):c.3089C>T (p.Pro1030Leu)
|
rs1404965456
|
0.00001
|
NM_001035.3(RYR2):c.3142G>A (p.Asp1048Asn)
|
rs1384422533
|
0.00001
|
NM_001035.3(RYR2):c.3167C>T (p.Thr1056Met)
|
rs779146564
|
0.00001
|
NM_001035.3(RYR2):c.3220A>G (p.Arg1074Gly)
|
rs1559038380
|
0.00001
|
NM_001035.3(RYR2):c.3244G>A (p.Gly1082Arg)
|
rs774797663
|
0.00001
|
NM_001035.3(RYR2):c.3271G>A (p.Glu1091Lys)
|
rs730880191
|
0.00001
|
NM_001035.3(RYR2):c.3295G>A (p.Gly1099Arg)
|
rs767849564
|
0.00001
|
NM_001035.3(RYR2):c.3400G>T (p.Ala1134Ser)
|
rs886046265
|
0.00001
|
NM_001035.3(RYR2):c.340C>G (p.Leu114Val)
|
rs759271857
|
0.00001
|
NM_001035.3(RYR2):c.3424-4A>G
|
rs1170393191
|
0.00001
|
NM_001035.3(RYR2):c.3610G>A (p.Val1204Met)
|
rs1435421903
|
0.00001
|
NM_001035.3(RYR2):c.365G>A (p.Arg122His)
|
rs727503396
|
0.00001
|
NM_001035.3(RYR2):c.3677A>G (p.Tyr1226Cys)
|
rs371124046
|
0.00001
|
NM_001035.3(RYR2):c.3767C>T (p.Pro1256Leu)
|
rs773915323
|
0.00001
|
NM_001035.3(RYR2):c.3823G>A (p.Gly1275Ser)
|
rs769294223
|
0.00001
|
NM_001035.3(RYR2):c.3844T>C (p.Cys1282Arg)
|
rs1057518304
|
0.00001
|
NM_001035.3(RYR2):c.3894T>G (p.Asp1298Glu)
|
rs1383564773
|
0.00001
|
NM_001035.3(RYR2):c.3932C>T (p.Ala1311Val)
|
rs757471928
|
0.00001
|
NM_001035.3(RYR2):c.3950C>T (p.Thr1317Met)
|
rs752107643
|
0.00001
|
NM_001035.3(RYR2):c.3955G>A (p.Ala1319Thr)
|
rs376526841
|
0.00001
|
NM_001035.3(RYR2):c.3973G>C (p.Ala1325Pro)
|
rs1043523829
|
0.00001
|
NM_001035.3(RYR2):c.4020T>A (p.Asp1340Glu)
|
rs1040456396
|
0.00001
|
NM_001035.3(RYR2):c.4078G>A (p.Asp1360Asn)
|
rs1274140033
|
0.00001
|
NM_001035.3(RYR2):c.4097C>A (p.Thr1366Asn)
|
rs531412940
|
0.00001
|
NM_001035.3(RYR2):c.409C>T (p.Arg137Trp)
|
rs761916230
|
0.00001
|
NM_001035.3(RYR2):c.4121A>G (p.Lys1374Arg)
|
rs1675089718
|
0.00001
|
NM_001035.3(RYR2):c.4274C>T (p.Thr1425Met)
|
rs761181641
|
0.00001
|
NM_001035.3(RYR2):c.4294A>C (p.Ile1432Leu)
|
rs769163639
|
0.00001
|
NM_001035.3(RYR2):c.4366G>A (p.Gly1456Ser)
|
rs1265113691
|
0.00001
|
NM_001035.3(RYR2):c.4444C>T (p.Arg1482Cys)
|
rs564869863
|
0.00001
|
NM_001035.3(RYR2):c.4457A>G (p.Tyr1486Cys)
|
rs1353376223
|
0.00001
|
NM_001035.3(RYR2):c.4499G>A (p.Arg1500His)
|
rs749719028
|
0.00001
|
NM_001035.3(RYR2):c.4507A>G (p.Asn1503Asp)
|
rs794728736
|
0.00001
|
NM_001035.3(RYR2):c.4585A>C (p.Thr1529Pro)
|
rs765195072
|
0.00001
|
NM_001035.3(RYR2):c.4732C>T (p.Pro1578Ser)
|
rs761852488
|
0.00001
|
NM_001035.3(RYR2):c.4828C>T (p.Arg1610Ter)
|
rs794728738
|
0.00001
|
NM_001035.3(RYR2):c.4831A>G (p.Ile1611Val)
|
rs755572625
|
0.00001
|
NM_001035.3(RYR2):c.4850G>C (p.Trp1617Ser)
|
rs1677785308
|
0.00001
|
NM_001035.3(RYR2):c.4882A>G (p.Met1628Val)
|
rs757286828
|
0.00001
|
NM_001035.3(RYR2):c.505C>T (p.Arg169Ter)
|
rs749930577
|
0.00001
|
NM_001035.3(RYR2):c.5336G>A (p.Ser1779Asn)
|
rs778312204
|
0.00001
|
NM_001035.3(RYR2):c.5363A>C (p.Lys1788Thr)
|
rs779637196
|
0.00001
|
NM_001035.3(RYR2):c.5717T>C (p.Met1906Thr)
|
rs748307254
|
0.00001
|
NM_001035.3(RYR2):c.5755C>T (p.Arg1919Trp)
|
rs771469528
|
0.00001
|
NM_001035.3(RYR2):c.5824T>C (p.Phe1942Leu)
|
rs368669045
|
0.00001
|
NM_001035.3(RYR2):c.5933A>G (p.Asn1978Ser)
|
rs773006920
|
0.00001
|
NM_001035.3(RYR2):c.5977C>T (p.Arg1993Cys)
|
rs767406030
|
0.00001
|
NM_001035.3(RYR2):c.6167-3C>T
|
rs1327145604
|
0.00001
|
NM_001035.3(RYR2):c.6233C>T (p.Pro2078Leu)
|
rs1158268722
|
0.00001
|
NM_001035.3(RYR2):c.625C>G (p.Gln209Glu)
|
rs749414350
|
0.00001
|
NM_001035.3(RYR2):c.6431G>A (p.Arg2144His)
|
rs1243083109
|
0.00001
|
NM_001035.3(RYR2):c.6519G>T (p.Glu2173Asp)
|
rs368920731
|
0.00001
|
NM_001035.3(RYR2):c.6799C>T (p.Arg2267Cys)
|
rs554220274
|
0.00001
|
NM_001035.3(RYR2):c.6811G>A (p.Gly2271Ser)
|
rs375371340
|
0.00001
|
NM_001035.3(RYR2):c.7057A>G (p.Ile2353Val)
|
rs375356774
|
0.00001
|
NM_001035.3(RYR2):c.7220A>C (p.His2407Pro)
|
rs1197580766
|
0.00001
|
NM_001035.3(RYR2):c.7234G>A (p.Gly2412Arg)
|
rs550534270
|
0.00001
|
NM_001035.3(RYR2):c.7373C>T (p.Ala2458Val)
|
rs768478443
|
0.00001
|
NM_001035.3(RYR2):c.7528A>G (p.Thr2510Ala)
|
rs777279244
|
0.00001
|
NM_001035.3(RYR2):c.7529C>T (p.Thr2510Ile)
|
rs748865411
|
0.00001
|
NM_001035.3(RYR2):c.7550A>G (p.Asn2517Ser)
|
rs1314129285
|
0.00001
|
NM_001035.3(RYR2):c.7570G>A (p.Val2524Ile)
|
rs934248102
|
0.00001
|
NM_001035.3(RYR2):c.8107C>A (p.Pro2703Thr)
|
rs763186606
|
0.00001
|
NM_001035.3(RYR2):c.8143G>A (p.Glu2715Lys)
|
rs756472432
|
0.00001
|
NM_001035.3(RYR2):c.8228A>G (p.Tyr2743Cys)
|
rs368952500
|
0.00001
|
NM_001035.3(RYR2):c.8269A>G (p.Met2757Val)
|
rs376015452
|
0.00001
|
NM_001035.3(RYR2):c.8310T>G (p.Ile2770Met)
|
rs974847063
|
0.00001
|
NM_001035.3(RYR2):c.8314C>T (p.Arg2772Cys)
|
rs754379518
|
0.00001
|
NM_001035.3(RYR2):c.836C>T (p.Thr279Met)
|
rs754312807
|
0.00001
|
NM_001035.3(RYR2):c.8392A>T (p.Met2798Leu)
|
rs1275797500
|
0.00001
|
NM_001035.3(RYR2):c.8414G>A (p.Arg2805His)
|
rs1247067433
|
0.00001
|
NM_001035.3(RYR2):c.8417G>A (p.Arg2806His)
|
rs955927781
|
0.00001
|
NM_001035.3(RYR2):c.8486G>A (p.Ser2829Asn)
|
rs752268870
|
0.00001
|
NM_001035.3(RYR2):c.848C>T (p.Ala283Val)
|
rs1163526442
|
0.00001
|
NM_001035.3(RYR2):c.8681A>G (p.Lys2894Arg)
|
rs1374749880
|
0.00001
|
NM_001035.3(RYR2):c.8792G>T (p.Arg2931Leu)
|
rs905226907
|
0.00001
|
NM_001035.3(RYR2):c.8816A>G (p.Tyr2939Cys)
|
rs375408791
|
0.00001
|
NM_001035.3(RYR2):c.881C>T (p.Pro294Leu)
|
rs750542606
|
0.00001
|
NM_001035.3(RYR2):c.8899G>A (p.Val2967Ile)
|
rs751546090
|
0.00001
|
NM_001035.3(RYR2):c.893G>A (p.Arg298His)
|
rs754259295
|
0.00001
|
NM_001035.3(RYR2):c.9052A>G (p.Arg3018Gly)
|
rs748968052
|
0.00001
|
NM_001035.3(RYR2):c.9284A>G (p.Asn3095Ser)
|
rs778591641
|
0.00001
|
NM_001035.3(RYR2):c.9295G>C (p.Val3099Leu)
|
rs745616771
|
0.00001
|
NM_001035.3(RYR2):c.9329A>C (p.Glu3110Ala)
|
rs1419674808
|
0.00001
|
NM_001035.3(RYR2):c.9338G>A (p.Gly3113Asp)
|
rs770278770
|
0.00001
|
NM_001035.3(RYR2):c.9425C>A (p.Thr3142Asn)
|
rs1299273877
|
0.00001
|
NM_001035.3(RYR2):c.9549C>T (p.Ile3183=)
|
rs1360654111
|
0.00001
|
NM_001035.3(RYR2):c.9551A>G (p.Tyr3184Cys)
|
rs772804208
|
0.00001
|
NM_001035.3(RYR2):c.9667G>A (p.Glu3223Lys)
|
rs556291797
|
0.00001
|
NM_001035.3(RYR2):c.9669G>C (p.Glu3223Asp)
|
rs377626309
|
0.00001
|
NM_001035.3(RYR2):c.9679C>T (p.Arg3227Cys)
|
rs747271394
|
0.00001
|
NM_001035.3(RYR2):c.9680G>A (p.Arg3227His)
|
rs755897867
|
0.00001
|
NM_001035.3(RYR2):c.9686C>T (p.Thr3229Ile)
|
rs1688441480
|
0.00001
|
NM_001035.3(RYR2):c.9691A>G (p.Met3231Val)
|
rs374899980
|
0.00001
|
NM_001035.3(RYR2):c.9692T>C (p.Met3231Thr)
|
rs1472732790
|
0.00001
|
NM_001035.3(RYR2):c.9703A>G (p.Met3235Val)
|
rs773957909
|
0.00001
|
NM_001035.3(RYR2):c.9742C>T (p.Arg3248Cys)
|
rs1290534109
|
0.00001
|
NM_001035.3(RYR2):c.9778C>T (p.Arg3260Trp)
|
rs765325906
|
0.00001
|
NM_001035.3(RYR2):c.9817A>G (p.Met3273Val)
|
rs1365049763
|
0.00001
|
NM_001037.5(SCN1B):c.13C>A (p.Leu5Met)
|
rs1064796847
|
0.00001
|
NM_001037.5(SCN1B):c.178C>T (p.Arg60Cys)
|
rs2064221873
|
0.00001
|
NM_001037.5(SCN1B):c.38T>C (p.Leu13Pro)
|
rs786205834
|
0.00001
|
NM_001037.5(SCN1B):c.395A>G (p.Tyr132Cys)
|
rs1265232012
|
0.00001
|
NM_001037.5(SCN1B):c.448G>A (p.Ala150Thr)
|
rs1034016541
|
0.00001
|
NM_001037.5(SCN1B):c.506T>C (p.Val169Ala)
|
rs1487883672
|
0.00001
|
NM_001037.5(SCN1B):c.523G>A (p.Val175Met)
|
rs776213428
|
0.00001
|
NM_001037.5(SCN1B):c.560C>A (p.Ala187Asp)
|
rs749338180
|
0.00001
|
NM_001037.5(SCN1B):c.570G>T (p.Glu190Asp)
|
rs1422403439
|
0.00001
|
NM_001037.5(SCN1B):c.571A>C (p.Thr191Pro)
|
rs765702440
|
0.00001
|
NM_001037.5(SCN1B):c.69G>C (p.Glu23Asp)
|
rs762553865
|
0.00001
|
NM_001040151.2(SCN3B):c.260C>G (p.Pro87Arg)
|
rs371050389
|
0.00001
|
NM_001077653.2(TBX20):c.1009G>A (p.Ala337Thr)
|
rs924846567
|
0.00001
|
NM_001077653.2(TBX20):c.1046G>C (p.Trp349Ser)
|
rs748900621
|
0.00001
|
NM_001077653.2(TBX20):c.1303G>A (p.Gly435Arg)
|
rs777607652
|
0.00001
|
NM_001077653.2(TBX20):c.456C>G (p.Ile152Met)
|
rs137852954
|
0.00001
|
NM_001077653.2(TBX20):c.493C>T (p.His165Tyr)
|
rs370219446
|
0.00001
|
NM_001077653.2(TBX20):c.497G>A (p.Arg166Gln)
|
rs1790244699
|
0.00001
|
NM_001077653.2(TBX20):c.4G>A (p.Glu2Lys)
|
rs752468331
|
0.00001
|
NM_001077653.2(TBX20):c.533C>T (p.Pro178Leu)
|
rs760169368
|
0.00001
|
NM_001077653.2(TBX20):c.72G>A (p.Met24Ile)
|
rs150700395
|
0.00001
|
NM_001079802.2(FKTN):c.1174T>C (p.Tyr392His)
|
rs752191412
|
0.00001
|
NM_001079802.2(FKTN):c.1178T>C (p.Leu393Pro)
|
rs374962879
|
0.00001
|
NM_001079802.2(FKTN):c.1186A>C (p.Lys396Gln)
|
rs1477740717
|
0.00001
|
NM_001079802.2(FKTN):c.1268A>G (p.Tyr423Cys)
|
rs938689811
|
0.00001
|
NM_001079802.2(FKTN):c.1283A>G (p.Lys428Arg)
|
rs1833937117
|
0.00001
|
NM_001079802.2(FKTN):c.1380dup (p.Tyr461fs)
|
rs775366895
|
0.00001
|
NM_001079802.2(FKTN):c.13A>G (p.Asn5Asp)
|
rs765929865
|
0.00001
|
NM_001079802.2(FKTN):c.143T>C (p.Ile48Thr)
|
rs886044478
|
0.00001
|
NM_001079802.2(FKTN):c.154A>G (p.Ser52Gly)
|
rs1064796459
|
0.00001
|
NM_001079802.2(FKTN):c.277A>G (p.Thr93Ala)
|
rs886063319
|
0.00001
|
NM_001079802.2(FKTN):c.292A>G (p.Thr98Ala)
|
rs758798692
|
0.00001
|
NM_001079802.2(FKTN):c.382C>T (p.Arg128Trp)
|
rs767026996
|
0.00001
|
NM_001079802.2(FKTN):c.389C>T (p.Ala130Val)
|
rs752196884
|
0.00001
|
NM_001079802.2(FKTN):c.436C>T (p.Arg146Trp)
|
rs1208639233
|
0.00001
|
NM_001079802.2(FKTN):c.443A>G (p.Asp148Gly)
|
rs773305645
|
0.00001
|
NM_001079802.2(FKTN):c.545A>G (p.Asn182Ser)
|
rs760170065
|
0.00001
|
NM_001079802.2(FKTN):c.584T>C (p.Ile195Thr)
|
rs753503050
|
0.00001
|
NM_001079802.2(FKTN):c.685G>A (p.Val229Ile)
|
rs772111890
|
0.00001
|
NM_001079802.2(FKTN):c.755A>T (p.Tyr252Phe)
|
rs574626895
|
0.00001
|
NM_001079802.2(FKTN):c.820C>T (p.Arg274Trp)
|
rs558187116
|
0.00001
|
NM_001079802.2(FKTN):c.895A>C (p.Ser299Arg)
|
rs367662190
|
0.00001
|
NM_001103.4(ACTN2):c.1031A>G (p.Asn344Ser)
|
rs886046206
|
0.00001
|
NM_001103.4(ACTN2):c.1058G>A (p.Arg353Gln)
|
rs780552939
|
0.00001
|
NM_001103.4(ACTN2):c.1090G>A (p.Glu364Lys)
|
rs572523462
|
0.00001
|
NM_001103.4(ACTN2):c.1228G>T (p.Ala410Ser)
|
rs1258500915
|
0.00001
|
NM_001103.4(ACTN2):c.1238A>T (p.His413Leu)
|
rs763060410
|
0.00001
|
NM_001103.4(ACTN2):c.1312C>T (p.Arg438Trp)
|
rs563171274
|
0.00001
|
NM_001103.4(ACTN2):c.1325G>A (p.Arg442Gln)
|
rs776947613
|
0.00001
|
NM_001103.4(ACTN2):c.1333G>A (p.Glu445Lys)
|
rs773942709
|
0.00001
|
NM_001103.4(ACTN2):c.1358C>G (p.Ala453Gly)
|
rs566860712
|
0.00001
|
NM_001103.4(ACTN2):c.1439A>G (p.Asn480Ser)
|
rs1197619498
|
0.00001
|
NM_001103.4(ACTN2):c.1538C>A (p.Thr513Asn)
|
rs749178520
|
0.00001
|
NM_001103.4(ACTN2):c.1549C>T (p.Leu517Phe)
|
rs759778745
|
0.00001
|
NM_001103.4(ACTN2):c.1609G>A (p.Glu537Lys)
|
rs1401807611
|
0.00001
|
NM_001103.4(ACTN2):c.1624A>G (p.Met542Val)
|
rs770807444
|
0.00001
|
NM_001103.4(ACTN2):c.166G>A (p.Gly56Ser)
|
rs758034866
|
0.00001
|
NM_001103.4(ACTN2):c.1691C>T (p.Thr564Met)
|
rs876661341
|
0.00001
|
NM_001103.4(ACTN2):c.1703C>G (p.Ala568Gly)
|
rs776805533
|
0.00001
|
NM_001103.4(ACTN2):c.1799G>A (p.Ser600Asn)
|
rs794728968
|
0.00001
|
NM_001103.4(ACTN2):c.1804G>A (p.Val602Ile)
|
rs377356540
|
0.00001
|
NM_001103.4(ACTN2):c.1823G>A (p.Arg608Gln)
|
rs529944004
|
0.00001
|
NM_001103.4(ACTN2):c.1891C>T (p.Arg631Cys)
|
rs1446087607
|
0.00001
|
NM_001103.4(ACTN2):c.1906G>A (p.Glu636Lys)
|
rs780431842
|
0.00001
|
NM_001103.4(ACTN2):c.1910G>A (p.Arg637His)
|
rs1259556889
|
0.00001
|
NM_001103.4(ACTN2):c.1946T>C (p.Ile649Thr)
|
rs150825710
|
0.00001
|
NM_001103.4(ACTN2):c.1948G>C (p.Gly650Arg)
|
rs1173244523
|
0.00001
|
NM_001103.4(ACTN2):c.1952C>T (p.Pro651Leu)
|
rs752552408
|
0.00001
|
NM_001103.4(ACTN2):c.1975-5C>G
|
rs369148572
|
0.00001
|
NM_001103.4(ACTN2):c.2054T>C (p.Ile685Thr)
|
rs1057523250
|
0.00001
|
NM_001103.4(ACTN2):c.2082G>C (p.Lys694Asn)
|
rs748034053
|
0.00001
|
NM_001103.4(ACTN2):c.2387G>A (p.Arg796His)
|
rs772409484
|
0.00001
|
NM_001103.4(ACTN2):c.2413G>A (p.Gly805Arg)
|
rs769239899
|
0.00001
|
NM_001103.4(ACTN2):c.2449T>C (p.Phe817Leu)
|
rs757713931
|
0.00001
|
NM_001103.4(ACTN2):c.2477A>T (p.Asp826Val)
|
rs372348405
|
0.00001
|
NM_001103.4(ACTN2):c.2554C>T (p.Arg852Trp)
|
rs745317077
|
0.00001
|
NM_001103.4(ACTN2):c.2569G>C (p.Asp857His)
|
rs533267299
|
0.00001
|
NM_001103.4(ACTN2):c.2632G>A (p.Ala878Thr)
|
rs1270659015
|
0.00001
|
NM_001103.4(ACTN2):c.2671G>T (p.Glu891Ter)
|
rs1177830945
|
0.00001
|
NM_001103.4(ACTN2):c.575G>A (p.Arg192Gln)
|
rs200316891
|
0.00001
|
NM_001103.4(ACTN2):c.581G>A (p.Arg194Gln)
|
rs528123945
|
0.00001
|
NM_001103.4(ACTN2):c.616-3C>T
|
rs111464645
|
0.00001
|
NM_001103.4(ACTN2):c.731C>T (p.Ala244Val)
|
rs938796645
|
0.00001
|
NM_001103.4(ACTN2):c.776C>T (p.Ala259Val)
|
rs566552494
|
0.00001
|
NM_001103.4(ACTN2):c.896G>A (p.Arg299His)
|
rs746677039
|
0.00001
|
NM_001103.4(ACTN2):c.955A>G (p.Lys319Glu)
|
rs754614411
|
0.00001
|
NM_001103.4(ACTN2):c.970C>T (p.Arg324Trp)
|
rs747674727
|
0.00001
|
NM_001103.4(ACTN2):c.980G>A (p.Arg327His)
|
rs554811924
|
0.00001
|
NM_001103.4(ACTN2):c.982C>T (p.Arg328Trp)
|
rs770855273
|
0.00001
|
NM_001105206.3(LAMA4):c.1105C>A (p.Leu369Ile)
|
rs1291328403
|
0.00001
|
NM_001105206.3(LAMA4):c.1121G>A (p.Ser374Asn)
|
rs869025449
|
0.00001
|
NM_001105206.3(LAMA4):c.1252G>A (p.Glu418Lys)
|
rs1159049821
|
0.00001
|
NM_001105206.3(LAMA4):c.1310T>C (p.Phe437Ser)
|
rs782766851
|
0.00001
|
NM_001105206.3(LAMA4):c.1319G>A (p.Arg440Gln)
|
rs1052880266
|
0.00001
|
NM_001105206.3(LAMA4):c.1327G>A (p.Val443Met)
|
rs371650107
|
0.00001
|
NM_001105206.3(LAMA4):c.133del (p.Gln45fs)
|
rs1341828711
|
0.00001
|
NM_001105206.3(LAMA4):c.1357+1G>A
|
rs1057524730
|
0.00001
|
NM_001105206.3(LAMA4):c.1394A>G (p.Asn465Ser)
|
rs1315842790
|
0.00001
|
NM_001105206.3(LAMA4):c.1436A>T (p.Asp479Val)
|
rs781939403
|
0.00001
|
NM_001105206.3(LAMA4):c.1455G>T (p.Leu485Phe)
|
rs782305599
|
0.00001
|
NM_001105206.3(LAMA4):c.1456T>A (p.Ser486Thr)
|
rs1419996220
|
0.00001
|
NM_001105206.3(LAMA4):c.153C>A (p.Ser51Arg)
|
rs782192817
|
0.00001
|
NM_001105206.3(LAMA4):c.1582G>A (p.Glu528Lys)
|
rs782385471
|
0.00001
|
NM_001105206.3(LAMA4):c.1661T>C (p.Ile554Thr)
|
rs535664944
|
0.00001
|
NM_001105206.3(LAMA4):c.1834G>A (p.Asp612Asn)
|
rs201484136
|
0.00001
|
NM_001105206.3(LAMA4):c.1835A>T (p.Asp612Val)
|
rs782157527
|
0.00001
|
NM_001105206.3(LAMA4):c.1867G>A (p.Ala623Thr)
|
rs782574915
|
0.00001
|
NM_001105206.3(LAMA4):c.203A>G (p.Asn68Ser)
|
rs782428669
|
0.00001
|
NM_001105206.3(LAMA4):c.2177A>T (p.Asp726Val)
|
rs781823199
|
0.00001
|
NM_001105206.3(LAMA4):c.2215G>A (p.Glu739Lys)
|
rs727504935
|
0.00001
|
NM_001105206.3(LAMA4):c.2305T>C (p.Phe769Leu)
|
rs1554334959
|
0.00001
|
NM_001105206.3(LAMA4):c.2465T>C (p.Ile822Thr)
|
rs369962703
|
0.00001
|
NM_001105206.3(LAMA4):c.2506A>G (p.Met836Val)
|
rs184539670
|
0.00001
|
NM_001105206.3(LAMA4):c.2527G>C (p.Ala843Pro)
|
rs536755553
|
0.00001
|
NM_001105206.3(LAMA4):c.2543C>T (p.Ser848Leu)
|
rs782005555
|
0.00001
|
NM_001105206.3(LAMA4):c.2568G>C (p.Lys856Asn)
|
rs144433625
|
0.00001
|
NM_001105206.3(LAMA4):c.2615C>T (p.Pro872Leu)
|
rs375497091
|
0.00001
|
NM_001105206.3(LAMA4):c.2620C>G (p.Leu874Val)
|
rs782635471
|
0.00001
|
NM_001105206.3(LAMA4):c.2665A>C (p.Asn889His)
|
rs782532289
|
0.00001
|
NM_001105206.3(LAMA4):c.3026C>A (p.Ala1009Asp)
|
rs199618820
|
0.00001
|
NM_001105206.3(LAMA4):c.3245C>T (p.Pro1082Leu)
|
rs782040284
|
0.00001
|
NM_001105206.3(LAMA4):c.3308G>A (p.Arg1103His)
|
rs782568532
|
0.00001
|
NM_001105206.3(LAMA4):c.335A>G (p.Lys112Arg)
|
rs370001919
|
0.00001
|
NM_001105206.3(LAMA4):c.3365T>C (p.Leu1122Pro)
|
rs189581734
|
0.00001
|
NM_001105206.3(LAMA4):c.343G>A (p.Asp115Asn)
|
rs781919095
|
0.00001
|
NM_001105206.3(LAMA4):c.3574C>T (p.Leu1192Phe)
|
rs181787647
|
0.00001
|
NM_001105206.3(LAMA4):c.3793A>G (p.Thr1265Ala)
|
rs1179163721
|
0.00001
|
NM_001105206.3(LAMA4):c.3841G>A (p.Val1281Met)
|
rs184696189
|
0.00001
|
NM_001105206.3(LAMA4):c.4059T>A (p.Phe1353Leu)
|
rs782273793
|
0.00001
|
NM_001105206.3(LAMA4):c.4078A>G (p.Ile1360Val)
|
rs1219695312
|
0.00001
|
NM_001105206.3(LAMA4):c.4111A>C (p.Ile1371Leu)
|
rs974775253
|
0.00001
|
NM_001105206.3(LAMA4):c.4135G>A (p.Val1379Met)
|
rs782165947
|
0.00001
|
NM_001105206.3(LAMA4):c.4223C>T (p.Pro1408Leu)
|
rs148968696
|
0.00001
|
NM_001105206.3(LAMA4):c.4492C>T (p.Arg1498Cys)
|
rs782368185
|
0.00001
|
NM_001105206.3(LAMA4):c.4505G>A (p.Arg1502His)
|
rs781976795
|
0.00001
|
NM_001105206.3(LAMA4):c.4601A>G (p.Asn1534Ser)
|
rs782057429
|
0.00001
|
NM_001105206.3(LAMA4):c.4681G>A (p.Glu1561Lys)
|
rs782515490
|
0.00001
|
NM_001105206.3(LAMA4):c.4708G>T (p.Asp1570Tyr)
|
rs199938033
|
0.00001
|
NM_001105206.3(LAMA4):c.4724T>C (p.Leu1575Pro)
|
rs372502180
|
0.00001
|
NM_001105206.3(LAMA4):c.4786G>A (p.Gly1596Ser)
|
rs373949918
|
0.00001
|
NM_001105206.3(LAMA4):c.4883T>G (p.Ile1628Ser)
|
rs145001856
|
0.00001
|
NM_001105206.3(LAMA4):c.5035A>G (p.Arg1679Gly)
|
rs781995760
|
0.00001
|
NM_001105206.3(LAMA4):c.5206+1G>A
|
rs368035482
|
0.00001
|
NM_001105206.3(LAMA4):c.5383C>T (p.His1795Tyr)
|
rs782153502
|
0.00001
|
NM_001105206.3(LAMA4):c.59C>T (p.Ala20Val)
|
rs1060500981
|
0.00001
|
NM_001105206.3(LAMA4):c.676C>T (p.Pro226Ser)
|
rs201820268
|
0.00001
|
NM_001105206.3(LAMA4):c.757G>A (p.Gly253Arg)
|
rs377633183
|
0.00001
|
NM_001105206.3(LAMA4):c.944A>G (p.Asn315Ser)
|
rs1029188462
|
0.00001
|
NM_001105206.3(LAMA4):c.985G>C (p.Glu329Gln)
|
rs1554346363
|
0.00001
|
NM_001110556.2(FLNA):c.7604T>C (p.Val2535Ala)
|
rs886039104
|
0.00001
|
NM_001114753.3(ENG):c.1058A>G (p.Glu353Gly)
|
rs868730895
|
0.00001
|
NM_001114753.3(ENG):c.1585C>T (p.Arg529Cys)
|
rs745316066
|
0.00001
|
NM_001114753.3(ENG):c.790G>A (p.Asp264Asn)
|
rs1210433339
|
0.00001
|
NM_001114753.3(ENG):c.943G>A (p.Val315Met)
|
rs763508329
|
0.00001
|
NM_001134363.3(RBM20):c.1139G>A (p.Arg380Gln)
|
rs777080028
|
0.00001
|
NM_001134363.3(RBM20):c.1159G>A (p.Ala387Thr)
|
rs886046703
|
0.00001
|
NM_001134363.3(RBM20):c.116G>A (p.Arg39Gln)
|
rs780367353
|
0.00001
|
NM_001134363.3(RBM20):c.1259A>G (p.Lys420Arg)
|
rs727505308
|
0.00001
|
NM_001134363.3(RBM20):c.1265T>C (p.Phe422Ser)
|
rs932538273
|
0.00001
|
NM_001134363.3(RBM20):c.1348C>T (p.Arg450Trp)
|
rs886039129
|
0.00001
|
NM_001134363.3(RBM20):c.1360G>T (p.Gly454Cys)
|
rs780583951
|
0.00001
|
NM_001134363.3(RBM20):c.1396A>G (p.Ser466Gly)
|
rs1330659380
|
0.00001
|
NM_001134363.3(RBM20):c.1400C>G (p.Thr467Arg)
|
rs775062085
|
0.00001
|
NM_001134363.3(RBM20):c.1444C>G (p.Leu482Val)
|
rs752506719
|
0.00001
|
NM_001134363.3(RBM20):c.145C>G (p.Gln49Glu)
|
rs912374533
|
0.00001
|
NM_001134363.3(RBM20):c.1552C>T (p.Arg518Cys)
|
rs369835514
|
0.00001
|
NM_001134363.3(RBM20):c.16G>A (p.Ala6Thr)
|
rs758772050
|
0.00001
|
NM_001134363.3(RBM20):c.1723C>G (p.Gln575Glu)
|
rs1030751538
|
0.00001
|
NM_001134363.3(RBM20):c.1765C>T (p.Arg589Trp)
|
rs919402785
|
0.00001
|
NM_001134363.3(RBM20):c.1801-5G>T
|
rs995878595
|
0.00001
|
NM_001134363.3(RBM20):c.1868G>A (p.Arg623Gln)
|
rs1366402693
|
0.00001
|
NM_001134363.3(RBM20):c.1894A>G (p.Arg632Gly)
|
rs1470779057
|
0.00001
|
NM_001134363.3(RBM20):c.1896G>C (p.Arg632Ser)
|
rs767451635
|
0.00001
|
NM_001134363.3(RBM20):c.1898C>T (p.Pro633Leu)
|
rs747880281
|
0.00001
|
NM_001134363.3(RBM20):c.1921C>T (p.Arg641Trp)
|
rs772991270
|
0.00001
|
NM_001134363.3(RBM20):c.1960T>C (p.Ser654Pro)
|
rs1275195637
|
0.00001
|
NM_001134363.3(RBM20):c.1962C>T (p.Ser654=)
|
rs1060504913
|
0.00001
|
NM_001134363.3(RBM20):c.196G>A (p.Ala66Thr)
|
rs1051972948
|
0.00001
|
NM_001134363.3(RBM20):c.1982C>G (p.Pro661Arg)
|
rs1251592783
|
0.00001
|
NM_001134363.3(RBM20):c.2011A>G (p.Asn671Asp)
|
rs1204905333
|
0.00001
|
NM_001134363.3(RBM20):c.2021A>G (p.Asp674Gly)
|
rs1475557145
|
0.00001
|
NM_001134363.3(RBM20):c.2060A>G (p.Glu687Gly)
|
rs1051836531
|
0.00001
|
NM_001134363.3(RBM20):c.2063G>A (p.Arg688Gln)
|
rs776778214
|
0.00001
|
NM_001134363.3(RBM20):c.2069C>T (p.Pro690Leu)
|
rs550942448
|
0.00001
|
NM_001134363.3(RBM20):c.2072C>T (p.Ala691Val)
|
rs1293517489
|
0.00001
|
NM_001134363.3(RBM20):c.2100G>C (p.Lys700Asn)
|
rs957430941
|
0.00001
|
NM_001134363.3(RBM20):c.2131C>T (p.Arg711Cys)
|
rs750763255
|
0.00001
|
NM_001134363.3(RBM20):c.2176C>T (p.Arg726Ter)
|
rs1393804220
|
0.00001
|
NM_001134363.3(RBM20):c.2272G>A (p.Gly758Ser)
|
rs1371567866
|
0.00001
|
NM_001134363.3(RBM20):c.2276A>G (p.Tyr759Cys)
|
rs1463526980
|
0.00001
|
NM_001134363.3(RBM20):c.2281C>T (p.Arg761Trp)
|
rs781256531
|
0.00001
|
NM_001134363.3(RBM20):c.2382A>C (p.Arg794Ser)
|
rs999008497
|
0.00001
|
NM_001134363.3(RBM20):c.2464C>A (p.Gln822Lys)
|
rs377259044
|
0.00001
|
NM_001134363.3(RBM20):c.2497A>G (p.Arg833Gly)
|
rs371116877
|
0.00001
|
NM_001134363.3(RBM20):c.2633C>T (p.Pro878Leu)
|
rs368291152
|
0.00001
|
NM_001134363.3(RBM20):c.2759T>G (p.Phe920Cys)
|
rs112880805
|
0.00001
|
NM_001134363.3(RBM20):c.275C>T (p.Ala92Val)
|
rs1344144278
|
0.00001
|
NM_001134363.3(RBM20):c.27G>C (p.Gln9His)
|
rs1157177960
|
0.00001
|
NM_001134363.3(RBM20):c.303C>A (p.His101Gln)
|
rs1172371194
|
0.00001
|
NM_001134363.3(RBM20):c.3076G>A (p.Glu1026Lys)
|
rs866975469
|
0.00001
|
NM_001134363.3(RBM20):c.3119C>G (p.Ala1040Gly)
|
rs878854251
|
0.00001
|
NM_001134363.3(RBM20):c.3154G>A (p.Ala1052Thr)
|
rs890053031
|
0.00001
|
NM_001134363.3(RBM20):c.321G>C (p.Gln107His)
|
rs1413181007
|
0.00001
|
NM_001134363.3(RBM20):c.3278A>T (p.Asp1093Val)
|
rs748335429
|
0.00001
|
NM_001134363.3(RBM20):c.349G>A (p.Ala117Thr)
|
rs373480063
|
0.00001
|
NM_001134363.3(RBM20):c.359del (p.Leu120fs)
|
rs1173576141
|
0.00001
|
NM_001134363.3(RBM20):c.3602G>A (p.Gly1201Asp)
|
rs1159249168
|
0.00001
|
NM_001134363.3(RBM20):c.404A>G (p.Asn135Ser)
|
rs1460527562
|
0.00001
|
NM_001134363.3(RBM20):c.413G>C (p.Arg138Thr)
|
rs1387283537
|
0.00001
|
NM_001134363.3(RBM20):c.434G>A (p.Gly145Asp)
|
rs1060503413
|
0.00001
|
NM_001134363.3(RBM20):c.674C>T (p.Thr225Ile)
|
rs794729140
|
0.00001
|
NM_001134363.3(RBM20):c.686A>G (p.Tyr229Cys)
|
rs1478721868
|
0.00001
|
NM_001134363.3(RBM20):c.707C>A (p.Ser236Tyr)
|
rs548382173
|
0.00001
|
NM_001134363.3(RBM20):c.838A>G (p.Lys280Glu)
|
rs1414387984
|
0.00001
|
NM_001134363.3(RBM20):c.856A>G (p.Asn286Asp)
|
rs1324823773
|
0.00001
|
NM_001134363.3(RBM20):c.858C>A (p.Asn286Lys)
|
rs1339836806
|
0.00001
|
NM_001148.6(ANK2):c.10200G>C (p.Lys3400Asn)
|
rs942441867
|
0.00001
|
NM_001148.6(ANK2):c.10222C>G (p.Arg3408Gly)
|
rs773715451
|
0.00001
|
NM_001148.6(ANK2):c.10254A>C (p.Arg3418Ser)
|
rs200605861
|
0.00001
|
NM_001148.6(ANK2):c.10331T>C (p.Val3444Ala)
|
rs1389060330
|
0.00001
|
NM_001148.6(ANK2):c.10375C>T (p.Pro3459Ser)
|
rs761631834
|
0.00001
|
NM_001148.6(ANK2):c.10528G>T (p.Ala3510Ser)
|
rs1303634187
|
0.00001
|
NM_001148.6(ANK2):c.10999A>G (p.Ile3667Val)
|
rs1476966675
|
0.00001
|
NM_001148.6(ANK2):c.11027G>C (p.Ser3676Thr)
|
rs886059017
|
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.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.11435T>G (p.Leu3812Arg)
|
rs1554589909
|
0.00001
|
NM_001148.6(ANK2):c.11617G>A (p.Asp3873Asn)
|
rs777035563
|
0.00001
|
NM_001148.6(ANK2):c.11632C>G (p.Pro3878Ala)
|
rs369756604
|
0.00001
|
NM_001148.6(ANK2):c.11686G>T (p.Val3896Leu)
|
rs768664692
|
0.00001
|
NM_001148.6(ANK2):c.11728T>C (p.Ser3910Pro)
|
rs1181940613
|
0.00001
|
NM_001148.6(ANK2):c.1517G>A (p.Arg506His)
|
rs760370075
|
0.00001
|
NM_001148.6(ANK2):c.1554A>T (p.Gln518His)
|
rs761779843
|
0.00001
|
NM_001148.6(ANK2):c.1615C>T (p.Arg539Trp)
|
rs756495481
|
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.2063T>A (p.Ile688Asn)
|
rs746436835
|
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.2345A>G (p.Gln782Arg)
|
rs754601230
|
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.2803A>C (p.Thr935Pro)
|
rs756666052
|
0.00001
|
NM_001148.6(ANK2):c.2807T>C (p.Leu936Pro)
|
rs786205733
|
0.00001
|
NM_001148.6(ANK2):c.2837G>A (p.Arg946His)
|
rs768671380
|
0.00001
|
NM_001148.6(ANK2):c.2849G>A (p.Gly950Asp)
|
rs1437372961
|
0.00001
|
NM_001148.6(ANK2):c.2897C>T (p.Ser966Leu)
|
rs200658794
|
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.3143C>T (p.Thr1048Met)
|
rs786205735
|
0.00001
|
NM_001148.6(ANK2):c.3337A>G (p.Thr1113Ala)
|
rs150841275
|
0.00001
|
NM_001148.6(ANK2):c.3399C>G (p.Asp1133Glu)
|
rs748934954
|
0.00001
|
NM_001148.6(ANK2):c.3455C>T (p.Ala1152Val)
|
rs376536631
|
0.00001
|
NM_001148.6(ANK2):c.365A>G (p.Asn122Ser)
|
rs748761434
|
0.00001
|
NM_001148.6(ANK2):c.3970G>A (p.Val1324Ile)
|
rs1261943601
|
0.00001
|
NM_001148.6(ANK2):c.4393C>A (p.Gln1465Lys)
|
rs761254386
|
0.00001
|
NM_001148.6(ANK2):c.5327G>A (p.Arg1776Gln)
|
rs150207892
|
0.00001
|
NM_001148.6(ANK2):c.555T>G (p.Asn185Lys)
|
rs780370907
|
0.00001
|
NM_001148.6(ANK2):c.56G>A (p.Ser19Asn)
|
rs369260005
|
0.00001
|
NM_001148.6(ANK2):c.6545A>G (p.Tyr2182Cys)
|
rs1421417952
|
0.00001
|
NM_001148.6(ANK2):c.658G>A (p.Val220Ile)
|
rs764633047
|
0.00001
|
NM_001148.6(ANK2):c.7082A>G (p.His2361Arg)
|
rs745718831
|
0.00001
|
NM_001148.6(ANK2):c.7307C>T (p.Ser2436Phe)
|
rs761246790
|
0.00001
|
NM_001148.6(ANK2):c.7528C>T (p.Leu2510Phe)
|
rs1293101023
|
0.00001
|
NM_001148.6(ANK2):c.7828G>T (p.Asp2610Tyr)
|
rs767768290
|
0.00001
|
NM_001148.6(ANK2):c.805C>T (p.Pro269Ser)
|
rs1260008727
|
0.00001
|
NM_001148.6(ANK2):c.8759A>G (p.Tyr2920Cys)
|
rs781185140
|
0.00001
|
NM_001148.6(ANK2):c.9175G>T (p.Val3059Leu)
|
rs761458371
|
0.00001
|
NM_001148.6(ANK2):c.9190C>G (p.Gln3064Glu)
|
rs757030067
|
0.00001
|
NM_001148.6(ANK2):c.9404G>T (p.Gly3135Val)
|
rs140683986
|
0.00001
|
NM_001148.6(ANK2):c.9427C>G (p.Leu3143Val)
|
rs776074680
|
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_001159699.2(FHL1):c.303C>G (p.Asn101Lys)
|
rs762126486
|
0.00001
|
NM_001159699.2(FHL1):c.836G>A (p.Arg279His)
|
rs377071251
|
0.00001
|
NM_001232.4(CASQ2):c.1031T>A (p.Met344Lys)
|
rs575326580
|
0.00001
|
NM_001232.4(CASQ2):c.1052A>G (p.Asp351Gly)
|
rs200899037
|
0.00001
|
NM_001232.4(CASQ2):c.205C>G (p.Gln69Glu)
|
rs761862949
|
0.00001
|
NM_001232.4(CASQ2):c.229C>T (p.Leu77Phe)
|
rs781778467
|
0.00001
|
NM_001232.4(CASQ2):c.289A>G (p.Lys97Glu)
|
rs750159744
|
0.00001
|
NM_001232.4(CASQ2):c.361C>T (p.Arg121Cys)
|
rs570840019
|
0.00001
|
NM_001232.4(CASQ2):c.409T>C (p.Phe137Leu)
|
rs762328417
|
0.00001
|
NM_001232.4(CASQ2):c.469G>C (p.Ala157Pro)
|
rs779063209
|
0.00001
|
NM_001232.4(CASQ2):c.482T>C (p.Ile161Thr)
|
rs151201435
|
0.00001
|
NM_001232.4(CASQ2):c.518G>T (p.Ser173Ile)
|
rs786205790
|
0.00001
|
NM_001232.4(CASQ2):c.83A>G (p.Tyr28Cys)
|
rs1230753325
|
0.00001
|
NM_001232.4(CASQ2):c.862C>G (p.Leu288Val)
|
rs772096506
|
0.00001
|
NM_001232.4(CASQ2):c.971T>C (p.Ile324Thr)
|
rs369403991
|
0.00001
|
NM_001267550.2(TTN):c.100562G>A (p.Gly33521Asp)
|
rs370516977
|
0.00001
|
NM_001267550.2(TTN):c.100642T>C (p.Phe33548Leu)
|
rs773561397
|
0.00001
|
NM_001267550.2(TTN):c.100649G>A (p.Gly33550Asp)
|
rs370253076
|
0.00001
|
NM_001267550.2(TTN):c.101875G>A (p.Glu33959Lys)
|
rs886055224
|
0.00001
|
NM_001267550.2(TTN):c.102182G>A (p.Arg34061His)
|
rs774174825
|
0.00001
|
NM_001267550.2(TTN):c.102206A>G (p.Gln34069Arg)
|
rs780466011
|
0.00001
|
NM_001267550.2(TTN):c.102418G>A (p.Gly34140Arg)
|
rs1294610003
|
0.00001
|
NM_001267550.2(TTN):c.102782C>A (p.Thr34261Asn)
|
rs985229219
|
0.00001
|
NM_001267550.2(TTN):c.102928G>A (p.Glu34310Lys)
|
rs768930172
|
0.00001
|
NM_001267550.2(TTN):c.10303+2T>C
|
rs371596417
|
0.00001
|
NM_001267550.2(TTN):c.103216G>A (p.Gly34406Arg)
|
rs371753532
|
0.00001
|
NM_001267550.2(TTN):c.103609C>T (p.Arg34537Trp)
|
rs753957126
|
0.00001
|
NM_001267550.2(TTN):c.103687G>A (p.Val34563Met)
|
rs369429739
|
0.00001
|
NM_001267550.2(TTN):c.104005G>A (p.Asp34669Asn)
|
rs1430662349
|
0.00001
|
NM_001267550.2(TTN):c.104062G>C (p.Glu34688Gln)
|
rs775049806
|
0.00001
|
NM_001267550.2(TTN):c.104099C>T (p.Pro34700Leu)
|
rs757181586
|
0.00001
|
NM_001267550.2(TTN):c.104126G>A (p.Arg34709His)
|
rs574420969
|
0.00001
|
NM_001267550.2(TTN):c.104282G>A (p.Arg34761Gln)
|
rs200773170
|
0.00001
|
NM_001267550.2(TTN):c.104353G>C (p.Glu34785Gln)
|
rs772532135
|
0.00001
|
NM_001267550.2(TTN):c.104458G>A (p.Glu34820Lys)
|
rs766062367
|
0.00001
|
NM_001267550.2(TTN):c.104582G>A (p.Arg34861His)
|
rs777774818
|
0.00001
|
NM_001267550.2(TTN):c.105149G>C (p.Arg35050Thr)
|
rs376175862
|
0.00001
|
NM_001267550.2(TTN):c.105493A>G (p.Lys35165Glu)
|
rs879156291
|
0.00001
|
NM_001267550.2(TTN):c.105571G>A (p.Val35191Ile)
|
rs1290162863
|
0.00001
|
NM_001267550.2(TTN):c.105834G>C (p.Gln35278His)
|
rs758094020
|
0.00001
|
NM_001267550.2(TTN):c.105935T>G (p.Leu35312Ter)
|
rs779948923
|
0.00001
|
NM_001267550.2(TTN):c.106117C>A (p.Gln35373Lys)
|
rs778126842
|
0.00001
|
NM_001267550.2(TTN):c.106906G>A (p.Val35636Met)
|
rs751243461
|
0.00001
|
NM_001267550.2(TTN):c.107593G>A (p.Glu35865Lys)
|
rs372841288
|
0.00001
|
NM_001267550.2(TTN):c.107661G>A (p.Met35887Ile)
|
rs764323200
|
0.00001
|
NM_001267550.2(TTN):c.1099T>C (p.Ser367Pro)
|
rs376015894
|
0.00001
|
NM_001267550.2(TTN):c.11687A>G (p.Asn3896Ser)
|
rs1207560844
|
0.00001
|
NM_001267550.2(TTN):c.12361G>C (p.Asp4121His)
|
rs370209978
|
0.00001
|
NM_001267550.2(TTN):c.12416A>G (p.His4139Arg)
|
rs72648920
|
0.00001
|
NM_001267550.2(TTN):c.12508G>A (p.Glu4170Lys)
|
rs1343565501
|
0.00001
|
NM_001267550.2(TTN):c.1304T>C (p.Met435Thr)
|
rs770187975
|
0.00001
|
NM_001267550.2(TTN):c.13130T>C (p.Leu4377Pro)
|
rs774398710
|
0.00001
|
NM_001267550.2(TTN):c.13510C>A (p.Gln4504Lys)
|
rs761901186
|
0.00001
|
NM_001267550.2(TTN):c.13724A>G (p.Glu4575Gly)
|
rs564287456
|
0.00001
|
NM_001267550.2(TTN):c.13877C>A (p.Thr4626Lys)
|
rs886039164
|
0.00001
|
NM_001267550.2(TTN):c.13940A>G (p.Asp4647Gly)
|
rs781348816
|
0.00001
|
NM_001267550.2(TTN):c.14093-1G>A
|
rs869312099
|
0.00001
|
NM_001267550.2(TTN):c.15495A>C (p.Lys5165Asn)
|
rs794729608
|
0.00001
|
NM_001267550.2(TTN):c.1565T>C (p.Val522Ala)
|
rs752904431
|
0.00001
|
NM_001267550.2(TTN):c.202C>T (p.Pro68Ser)
|
rs876658046
|
0.00001
|
NM_001267550.2(TTN):c.2203T>C (p.Tyr735His)
|
rs754432983
|
0.00001
|
NM_001267550.2(TTN):c.2233A>G (p.Lys745Glu)
|
rs139957325
|
0.00001
|
NM_001267550.2(TTN):c.2371-1G>A
|
rs755365744
|
0.00001
|
NM_001267550.2(TTN):c.25147A>G (p.Ile8383Val)
|
rs886038829
|
0.00001
|
NM_001267550.2(TTN):c.2629C>A (p.Pro877Thr)
|
rs751640052
|
0.00001
|
NM_001267550.2(TTN):c.26872T>C (p.Ser8958Pro)
|
rs886038913
|
0.00001
|
NM_001267550.2(TTN):c.27743C>A (p.Thr9248Asn)
|
rs397517523
|
0.00001
|
NM_001267550.2(TTN):c.28055T>C (p.Leu9352Ser)
|
rs776487201
|
0.00001
|
NM_001267550.2(TTN):c.28120A>G (p.Thr9374Ala)
|
rs886038863
|
0.00001
|
NM_001267550.2(TTN):c.295+5G>A
|
rs56310717
|
0.00001
|
NM_001267550.2(TTN):c.3157G>A (p.Glu1053Lys)
|
rs775979333
|
0.00001
|
NM_001267550.2(TTN):c.325C>T (p.Arg109Ter)
|
rs150954246
|
0.00001
|
NM_001267550.2(TTN):c.3524-3T>C
|
rs762717963
|
0.00001
|
NM_001267550.2(TTN):c.3729+4A>G
|
rs1170576212
|
0.00001
|
NM_001267550.2(TTN):c.3868G>A (p.Glu1290Lys)
|
rs748755381
|
0.00001
|
NM_001267550.2(TTN):c.40519C>T (p.Arg13507Cys)
|
rs528749203
|
0.00001
|
NM_001267550.2(TTN):c.40558+4T>C
|
rs398124451
|
0.00001
|
NM_001267550.2(TTN):c.40939A>G (p.Lys13647Glu)
|
rs777187629
|
0.00001
|
NM_001267550.2(TTN):c.4108A>G (p.Lys1370Glu)
|
rs1453568535
|
0.00001
|
NM_001267550.2(TTN):c.41104T>C (p.Ser13702Pro)
|
rs72650078
|
0.00001
|
NM_001267550.2(TTN):c.41180G>A (p.Arg13727His)
|
rs750520224
|
0.00001
|
NM_001267550.2(TTN):c.41423G>A (p.Arg13808His)
|
rs764850788
|
0.00001
|
NM_001267550.2(TTN):c.42055C>T (p.Arg14019Cys)
|
rs763499817
|
0.00001
|
NM_001267550.2(TTN):c.42649G>A (p.Glu14217Lys)
|
rs727503629
|
0.00001
|
NM_001267550.2(TTN):c.42725C>T (p.Ala14242Val)
|
rs769564228
|
0.00001
|
NM_001267550.2(TTN):c.42829A>T (p.Ile14277Phe)
|
rs397517568
|
0.00001
|
NM_001267550.2(TTN):c.4292G>A (p.Arg1431Gln)
|
rs373690688
|
0.00001
|
NM_001267550.2(TTN):c.42940G>A (p.Val14314Ile)
|
rs376881525
|
0.00001
|
NM_001267550.2(TTN):c.42946+3G>A
|
rs763647141
|
0.00001
|
NM_001267550.2(TTN):c.43565A>G (p.His14522Arg)
|
rs374085402
|
0.00001
|
NM_001267550.2(TTN):c.43857T>G (p.Phe14619Leu)
|
rs202179380
|
0.00001
|
NM_001267550.2(TTN):c.44249A>G (p.Asn14750Ser)
|
rs767633080
|
0.00001
|
NM_001267550.2(TTN):c.44284C>A (p.Arg14762=)
|
rs770767998
|
0.00001
|
NM_001267550.2(TTN):c.44425G>A (p.Val14809Met)
|
rs775225695
|
0.00001
|
NM_001267550.2(TTN):c.45185T>C (p.Ile15062Thr)
|
rs373627060
|
0.00001
|
NM_001267550.2(TTN):c.45369C>G (p.Ile15123Met)
|
rs1160173197
|
0.00001
|
NM_001267550.2(TTN):c.45598G>A (p.Ala15200Thr)
|
rs752318420
|
0.00001
|
NM_001267550.2(TTN):c.45890T>C (p.Val15297Ala)
|
rs775158152
|
0.00001
|
NM_001267550.2(TTN):c.45895G>A (p.Glu15299Lys)
|
rs397517582
|
0.00001
|
NM_001267550.2(TTN):c.45916G>A (p.Glu15306Lys)
|
rs774339883
|
0.00001
|
NM_001267550.2(TTN):c.47758A>C (p.Lys15920Gln)
|
rs775513269
|
0.00001
|
NM_001267550.2(TTN):c.48055G>A (p.Glu16019Lys)
|
rs758399903
|
0.00001
|
NM_001267550.2(TTN):c.48212C>T (p.Ser16071Leu)
|
rs794727332
|
0.00001
|
NM_001267550.2(TTN):c.48446T>C (p.Met16149Thr)
|
rs760582847
|
0.00001
|
NM_001267550.2(TTN):c.48903G>C (p.Gln16301His)
|
rs886038833
|
0.00001
|
NM_001267550.2(TTN):c.4894G>A (p.Ala1632Thr)
|
rs1250136125
|
0.00001
|
NM_001267550.2(TTN):c.48952A>C (p.Ile16318Leu)
|
rs962564634
|
0.00001
|
NM_001267550.2(TTN):c.49770G>C (p.Met16590Ile)
|
rs774495753
|
0.00001
|
NM_001267550.2(TTN):c.4981A>G (p.Ile1661Val)
|
rs749438439
|
0.00001
|
NM_001267550.2(TTN):c.5000A>G (p.Tyr1667Cys)
|
rs140494897
|
0.00001
|
NM_001267550.2(TTN):c.50348T>C (p.Ile16783Thr)
|
rs950940404
|
0.00001
|
NM_001267550.2(TTN):c.50396T>G (p.Val16799Gly)
|
rs1222977459
|
0.00001
|
NM_001267550.2(TTN):c.50536A>G (p.Ile16846Val)
|
rs1432294105
|
0.00001
|
NM_001267550.2(TTN):c.50642G>C (p.Gly16881Ala)
|
rs201302681
|
0.00001
|
NM_001267550.2(TTN):c.51355T>G (p.Phe17119Val)
|
rs370696020
|
0.00001
|
NM_001267550.2(TTN):c.51436+1G>A
|
rs761807131
|
0.00001
|
NM_001267550.2(TTN):c.51579G>C (p.Arg17193Ser)
|
rs759285989
|
0.00001
|
NM_001267550.2(TTN):c.51625G>A (p.Ala17209Thr)
|
rs1292930837
|
0.00001
|
NM_001267550.2(TTN):c.52028A>T (p.Asp17343Val)
|
rs201796622
|
0.00001
|
NM_001267550.2(TTN):c.52411C>T (p.Pro17471Ser)
|
rs551867239
|
0.00001
|
NM_001267550.2(TTN):c.52966G>A (p.Gly17656Arg)
|
rs1269389543
|
0.00001
|
NM_001267550.2(TTN):c.53246G>C (p.Ser17749Thr)
|
rs1553686153
|
0.00001
|
NM_001267550.2(TTN):c.53545G>C (p.Val17849Leu)
|
rs746831431
|
0.00001
|
NM_001267550.2(TTN):c.53707C>T (p.Arg17903Cys)
|
rs1016726284
|
0.00001
|
NM_001267550.2(TTN):c.53785G>A (p.Glu17929Lys)
|
rs201052994
|
0.00001
|
NM_001267550.2(TTN):c.53880A>C (p.Glu17960Asp)
|
rs780456423
|
0.00001
|
NM_001267550.2(TTN):c.53915G>A (p.Arg17972Gln)
|
rs377169251
|
0.00001
|
NM_001267550.2(TTN):c.54646G>A (p.Val18216Ile)
|
rs2054164910
|
0.00001
|
NM_001267550.2(TTN):c.54741G>A (p.Met18247Ile)
|
rs368858337
|
0.00001
|
NM_001267550.2(TTN):c.55010C>T (p.Pro18337Leu)
|
rs764568599
|
0.00001
|
NM_001267550.2(TTN):c.55270-3T>C
|
rs749109513
|
0.00001
|
NM_001267550.2(TTN):c.55432+5G>C
|
rs754717390
|
0.00001
|
NM_001267550.2(TTN):c.5576G>T (p.Arg1859Met)
|
rs777923620
|
0.00001
|
NM_001267550.2(TTN):c.57387T>A (p.Asn19129Lys)
|
rs375305621
|
0.00001
|
NM_001267550.2(TTN):c.57519G>T (p.Lys19173Asn)
|
rs1009412718
|
0.00001
|
NM_001267550.2(TTN):c.57860G>A (p.Arg19287His)
|
rs371422299
|
0.00001
|
NM_001267550.2(TTN):c.58490T>C (p.Met19497Thr)
|
rs375365886
|
0.00001
|
NM_001267550.2(TTN):c.58550T>C (p.Ile19517Thr)
|
rs72646838
|
0.00001
|
NM_001267550.2(TTN):c.58658G>A (p.Arg19553Gln)
|
rs543279513
|
0.00001
|
NM_001267550.2(TTN):c.59176G>A (p.Glu19726Lys)
|
rs1356102019
|
0.00001
|
NM_001267550.2(TTN):c.59359A>C (p.Ile19787Leu)
|
rs771610118
|
0.00001
|
NM_001267550.2(TTN):c.59533C>T (p.Arg19845Cys)
|
rs1232069163
|
0.00001
|
NM_001267550.2(TTN):c.59812G>A (p.Ala19938Thr)
|
rs755204306
|
0.00001
|
NM_001267550.2(TTN):c.59875C>T (p.Arg19959Cys)
|
rs564432498
|
0.00001
|
NM_001267550.2(TTN):c.59894C>T (p.Thr19965Ile)
|
rs372266703
|
0.00001
|
NM_001267550.2(TTN):c.59912C>T (p.Ala19971Val)
|
rs886055258
|
0.00001
|
NM_001267550.2(TTN):c.60104G>T (p.Cys20035Phe)
|
rs774488793
|
0.00001
|
NM_001267550.2(TTN):c.60266T>C (p.Val20089Ala)
|
rs886039085
|
0.00001
|
NM_001267550.2(TTN):c.60787A>G (p.Thr20263Ala)
|
rs886038850
|
0.00001
|
NM_001267550.2(TTN):c.60944G>A (p.Gly20315Asp)
|
rs765839032
|
0.00001
|
NM_001267550.2(TTN):c.61182G>C (p.Lys20394Asn)
|
rs1251147363
|
0.00001
|
NM_001267550.2(TTN):c.61220T>C (p.Val20407Ala)
|
rs761797946
|
0.00001
|
NM_001267550.2(TTN):c.61366G>A (p.Gly20456Ser)
|
rs756873840
|
0.00001
|
NM_001267550.2(TTN):c.61706G>A (p.Arg20569Lys)
|
rs371014957
|
0.00001
|
NM_001267550.2(TTN):c.62306C>A (p.Pro20769Gln)
|
rs772498581
|
0.00001
|
NM_001267550.2(TTN):c.6250A>G (p.Ile2084Val)
|
rs369388581
|
0.00001
|
NM_001267550.2(TTN):c.62537C>T (p.Ala20846Val)
|
rs1060500518
|
0.00001
|
NM_001267550.2(TTN):c.62786T>C (p.Ile20929Thr)
|
rs794729471
|
0.00001
|
NM_001267550.2(TTN):c.62897G>A (p.Arg20966His)
|
rs1174185176
|
0.00001
|
NM_001267550.2(TTN):c.6314C>G (p.Pro2105Arg)
|
rs547169244
|
0.00001
|
NM_001267550.2(TTN):c.6355G>T (p.Glu2119Ter)
|
rs869312098
|
0.00001
|
NM_001267550.2(TTN):c.63941C>T (p.Ser21314Leu)
|
rs776468606
|
0.00001
|
NM_001267550.2(TTN):c.64454G>A (p.Arg21485Gln)
|
rs746903647
|
0.00001
|
NM_001267550.2(TTN):c.64594A>G (p.Lys21532Glu)
|
rs794729477
|
0.00001
|
NM_001267550.2(TTN):c.64682G>T (p.Gly21561Val)
|
rs111829923
|
0.00001
|
NM_001267550.2(TTN):c.64846A>G (p.Lys21616Glu)
|
rs761445537
|
0.00001
|
NM_001267550.2(TTN):c.64897C>T (p.Arg21633Trp)
|
rs749576292
|
0.00001
|
NM_001267550.2(TTN):c.6508+1G>T
|
rs1373416532
|
0.00001
|
NM_001267550.2(TTN):c.65258C>T (p.Thr21753Ile)
|
rs748999109
|
0.00001
|
NM_001267550.2(TTN):c.65486A>G (p.Gln21829Arg)
|
rs886038921
|
0.00001
|
NM_001267550.2(TTN):c.65629G>T (p.Ala21877Ser)
|
rs72646866
|
0.00001
|
NM_001267550.2(TTN):c.65727C>T (p.Gly21909=)
|
rs1246746665
|
0.00001
|
NM_001267550.2(TTN):c.6593C>T (p.Thr2198Ile)
|
rs886038879
|
0.00001
|
NM_001267550.2(TTN):c.66332T>A (p.Ile22111Lys)
|
rs374614550
|
0.00001
|
NM_001267550.2(TTN):c.66707A>G (p.Asn22236Ser)
|
rs771424887
|
0.00001
|
NM_001267550.2(TTN):c.66769+4A>G
|
rs368682419
|
0.00001
|
NM_001267550.2(TTN):c.67788A>G (p.Arg22596=)
|
rs1326950042
|
0.00001
|
NM_001267550.2(TTN):c.68078C>T (p.Thr22693Met)
|
rs758700425
|
0.00001
|
NM_001267550.2(TTN):c.68083G>A (p.Ala22695Thr)
|
rs767279296
|
0.00001
|
NM_001267550.2(TTN):c.69337C>T (p.Arg23113Trp)
|
rs749409444
|
0.00001
|
NM_001267550.2(TTN):c.6941T>C (p.Ile2314Thr)
|
rs397517708
|
0.00001
|
NM_001267550.2(TTN):c.69575C>T (p.Thr23192Ile)
|
rs1319888327
|
0.00001
|
NM_001267550.2(TTN):c.69883G>A (p.Ala23295Thr)
|
rs746519147
|
0.00001
|
NM_001267550.2(TTN):c.70006G>A (p.Val23336Ile)
|
rs781015638
|
0.00001
|
NM_001267550.2(TTN):c.70111C>T (p.Arg23371Cys)
|
rs56141309
|
0.00001
|
NM_001267550.2(TTN):c.70181C>T (p.Thr23394Met)
|
rs397517683
|
0.00001
|
NM_001267550.2(TTN):c.70231G>A (p.Gly23411Ser)
|
rs767075037
|
0.00001
|
NM_001267550.2(TTN):c.70243A>C (p.Met23415Leu)
|
rs200029470
|
0.00001
|
NM_001267550.2(TTN):c.70331C>G (p.Pro23444Arg)
|
rs1325284144
|
0.00001
|
NM_001267550.2(TTN):c.70982C>T (p.Pro23661Leu)
|
rs1060500459
|
0.00001
|
NM_001267550.2(TTN):c.71347C>T (p.Arg23783Cys)
|
rs754516257
|
0.00001
|
NM_001267550.2(TTN):c.71581T>C (p.Tyr23861His)
|
rs759611506
|
0.00001
|
NM_001267550.2(TTN):c.71624C>A (p.Thr23875Asn)
|
rs771783837
|
0.00001
|
NM_001267550.2(TTN):c.72074A>C (p.Glu24025Ala)
|
rs886039088
|
0.00001
|
NM_001267550.2(TTN):c.731C>T (p.Ala244Val)
|
rs1337958814
|
0.00001
|
NM_001267550.2(TTN):c.73390C>T (p.Arg24464Trp)
|
rs369098292
|
0.00001
|
NM_001267550.2(TTN):c.7399A>G (p.Lys2467Glu)
|
rs1362423521
|
0.00001
|
NM_001267550.2(TTN):c.74063G>A (p.Arg24688His)
|
rs376988498
|
0.00001
|
NM_001267550.2(TTN):c.74766G>C (p.Arg24922Ser)
|
rs372814940
|
0.00001
|
NM_001267550.2(TTN):c.7502G>A (p.Arg2501Gln)
|
rs369559000
|
0.00001
|
NM_001267550.2(TTN):c.75035G>A (p.Arg25012Gln)
|
rs866517435
|
0.00001
|
NM_001267550.2(TTN):c.75053T>C (p.Val25018Ala)
|
rs745832906
|
0.00001
|
NM_001267550.2(TTN):c.7517G>A (p.Arg2506Gln)
|
rs758719859
|
0.00001
|
NM_001267550.2(TTN):c.75271A>G (p.Ser25091Gly)
|
rs886609420
|
0.00001
|
NM_001267550.2(TTN):c.76124A>T (p.Tyr25375Phe)
|
rs374494927
|
0.00001
|
NM_001267550.2(TTN):c.7645A>C (p.Asn2549His)
|
rs1277824720
|
0.00001
|
NM_001267550.2(TTN):c.76487C>G (p.Pro25496Arg)
|
rs886039105
|
0.00001
|
NM_001267550.2(TTN):c.76565T>C (p.Ile25522Thr)
|
rs372963832
|
0.00001
|
NM_001267550.2(TTN):c.7760A>G (p.Tyr2587Cys)
|
rs375047082
|
0.00001
|
NM_001267550.2(TTN):c.79211C>T (p.Thr26404Ile)
|
rs786205300
|
0.00001
|
NM_001267550.2(TTN):c.79420C>G (p.Pro26474Ala)
|
rs761511285
|
0.00001
|
NM_001267550.2(TTN):c.79591G>A (p.Glu26531Lys)
|
rs772211147
|
0.00001
|
NM_001267550.2(TTN):c.80209T>A (p.Cys26737Ser)
|
rs566764105
|
0.00001
|
NM_001267550.2(TTN):c.80712A>G (p.Ile26904Met)
|
rs773395582
|
0.00001
|
NM_001267550.2(TTN):c.8095T>G (p.Ser2699Ala)
|
rs373857878
|
0.00001
|
NM_001267550.2(TTN):c.81809T>C (p.Ile27270Thr)
|
rs368527797
|
0.00001
|
NM_001267550.2(TTN):c.82106G>A (p.Arg27369Lys)
|
rs774715672
|
0.00001
|
NM_001267550.2(TTN):c.82133A>C (p.Lys27378Thr)
|
rs886055240
|
0.00001
|
NM_001267550.2(TTN):c.82408C>A (p.Pro27470Thr)
|
rs886055239
|
0.00001
|
NM_001267550.2(TTN):c.82448A>G (p.Lys27483Arg)
|
rs937111656
|
0.00001
|
NM_001267550.2(TTN):c.82687C>T (p.Arg27563Cys)
|
rs72648214
|
0.00001
|
NM_001267550.2(TTN):c.82934G>A (p.Arg27645His)
|
rs766522109
|
0.00001
|
NM_001267550.2(TTN):c.82964G>A (p.Gly27655Asp)
|
rs373745130
|
0.00001
|
NM_001267550.2(TTN):c.83105G>A (p.Arg27702Gln)
|
rs776136653
|
0.00001
|
NM_001267550.2(TTN):c.83487T>G (p.Asn27829Lys)
|
rs374322635
|
0.00001
|
NM_001267550.2(TTN):c.84187C>T (p.Arg28063Cys)
|
rs539595292
|
0.00001
|
NM_001267550.2(TTN):c.84406G>A (p.Gly28136Arg)
|
rs879234686
|
0.00001
|
NM_001267550.2(TTN):c.84574G>A (p.Glu28192Lys)
|
rs879123930
|
0.00001
|
NM_001267550.2(TTN):c.84682C>T (p.Arg28228Cys)
|
rs776756769
|
0.00001
|
NM_001267550.2(TTN):c.85096G>A (p.Val28366Ile)
|
rs367800789
|
0.00001
|
NM_001267550.2(TTN):c.85979T>C (p.Ile28660Thr)
|
rs397517733
|
0.00001
|
NM_001267550.2(TTN):c.86393G>A (p.Arg28798Lys)
|
rs781458689
|
0.00001
|
NM_001267550.2(TTN):c.87131T>C (p.Ile29044Thr)
|
rs768120552
|
0.00001
|
NM_001267550.2(TTN):c.87671T>C (p.Ile29224Thr)
|
rs878915392
|
0.00001
|
NM_001267550.2(TTN):c.88146G>C (p.Trp29382Cys)
|
rs937554101
|
0.00001
|
NM_001267550.2(TTN):c.88760A>G (p.His29587Arg)
|
rs373905959
|
0.00001
|
NM_001267550.2(TTN):c.88820G>A (p.Arg29607Gln)
|
rs755212831
|
0.00001
|
NM_001267550.2(TTN):c.88863A>C (p.Glu29621Asp)
|
rs750981091
|
0.00001
|
NM_001267550.2(TTN):c.89072C>A (p.Thr29691Asn)
|
rs794729525
|
0.00001
|
NM_001267550.2(TTN):c.89479C>A (p.Pro29827Thr)
|
rs201620815
|
0.00001
|
NM_001267550.2(TTN):c.89689C>T (p.Leu29897Phe)
|
rs180798672
|
0.00001
|
NM_001267550.2(TTN):c.89972C>T (p.Ser29991Phe)
|
rs879239139
|
0.00001
|
NM_001267550.2(TTN):c.90159A>C (p.Lys30053Asn)
|
rs886039117
|
0.00001
|
NM_001267550.2(TTN):c.90186_90188del (p.Thr30063del)
|
rs758914867
|
0.00001
|
NM_001267550.2(TTN):c.90742G>A (p.Val30248Ile)
|
rs727505024
|
0.00001
|
NM_001267550.2(TTN):c.91199A>T (p.Tyr30400Phe)
|
rs376494747
|
0.00001
|
NM_001267550.2(TTN):c.91352G>A (p.Gly30451Asp)
|
rs751610164
|
0.00001
|
NM_001267550.2(TTN):c.9176A>T (p.Glu3059Val)
|
rs727504501
|
0.00001
|
NM_001267550.2(TTN):c.91813T>A (p.Ser30605Thr)
|
rs984360776
|
0.00001
|
NM_001267550.2(TTN):c.92291C>A (p.Thr30764Lys)
|
rs376537509
|
0.00001
|
NM_001267550.2(TTN):c.92455G>A (p.Val30819Ile)
|
rs368511235
|
0.00001
|
NM_001267550.2(TTN):c.92582G>A (p.Cys30861Tyr)
|
rs1045877862
|
0.00001
|
NM_001267550.2(TTN):c.92905C>T (p.Arg30969Trp)
|
rs754767262
|
0.00001
|
NM_001267550.2(TTN):c.93089G>A (p.Arg31030Gln)
|
rs766391515
|
0.00001
|
NM_001267550.2(TTN):c.93262T>G (p.Phe31088Val)
|
rs1023137329
|
0.00001
|
NM_001267550.2(TTN):c.93935T>G (p.Val31312Gly)
|
rs201344229
|
0.00001
|
NM_001267550.2(TTN):c.93991G>A (p.Gly31331Arg)
|
rs377660595
|
0.00001
|
NM_001267550.2(TTN):c.94045C>T (p.Arg31349Cys)
|
rs727503549
|
0.00001
|
NM_001267550.2(TTN):c.94330T>C (p.Trp31444Arg)
|
rs533447102
|
0.00001
|
NM_001267550.2(TTN):c.9434G>A (p.Arg3145Lys)
|
rs727503682
|
0.00001
|
NM_001267550.2(TTN):c.94357A>G (p.Ile31453Val)
|
rs780232811
|
0.00001
|
NM_001267550.2(TTN):c.94484G>A (p.Ser31495Asn)
|
rs1329167679
|
0.00001
|
NM_001267550.2(TTN):c.94486G>A (p.Glu31496Lys)
|
rs769175534
|
0.00001
|
NM_001267550.2(TTN):c.94627A>G (p.Ile31543Val)
|
rs771491701
|
0.00001
|
NM_001267550.2(TTN):c.94634G>A (p.Arg31545His)
|
rs920039018
|
0.00001
|
NM_001267550.2(TTN):c.9468T>A (p.Val3156=)
|
rs879192388
|
0.00001
|
NM_001267550.2(TTN):c.95468A>G (p.His31823Arg)
|
rs794729539
|
0.00001
|
NM_001267550.2(TTN):c.95539C>T (p.Arg31847Cys)
|
rs774814532
|
0.00001
|
NM_001267550.2(TTN):c.95616C>A (p.Ser31872Arg)
|
rs757129504
|
0.00001
|
NM_001267550.2(TTN):c.95983G>A (p.Glu31995Lys)
|
rs776682000
|
0.00001
|
NM_001267550.2(TTN):c.96311-4T>C
|
rs1553518208
|
0.00001
|
NM_001267550.2(TTN):c.96422T>A (p.Ile32141Asn)
|
rs753559586
|
0.00001
|
NM_001267550.2(TTN):c.97177A>G (p.Lys32393Glu)
|
rs374081110
|
0.00001
|
NM_001267550.2(TTN):c.97192+4A>G
|
rs370069759
|
0.00001
|
NM_001267550.2(TTN):c.97373C>T (p.Thr32458Met)
|
rs749501290
|
0.00001
|
NM_001267550.2(TTN):c.97417C>T (p.Arg32473Cys)
|
rs371924787
|
0.00001
|
NM_001267550.2(TTN):c.9770G>A (p.Arg3257His)
|
rs535876380
|
0.00001
|
NM_001267550.2(TTN):c.97754C>G (p.Pro32585Arg)
|
rs373959972
|
0.00001
|
NM_001267550.2(TTN):c.97792A>G (p.Ile32598Val)
|
rs372075164
|
0.00001
|
NM_001267550.2(TTN):c.97885G>A (p.Gly32629Arg)
|
rs767456906
|
0.00001
|
NM_001267550.2(TTN):c.97892A>T (p.Lys32631Ile)
|
rs944963846
|
0.00001
|
NM_001267550.2(TTN):c.9820A>C (p.Lys3274Gln)
|
rs201696360
|
0.00001
|
NM_001267550.2(TTN):c.98465A>G (p.Asp32822Gly)
|
rs191054704
|
0.00001
|
NM_001267550.2(TTN):c.98924A>T (p.Gln32975Leu)
|
rs776743138
|
0.00001
|
NM_001267550.2(TTN):c.99320T>C (p.Met33107Thr)
|
rs942438397
|
0.00001
|
NM_001267550.2(TTN):c.99544G>A (p.Val33182Ile)
|
rs1060500530
|
0.00001
|
NM_001267550.2(TTN):c.99955G>A (p.Gly33319Arg)
|
rs72648279
|
0.00001
|
NM_001276345.2(TNNT2):c.-3A>G
|
rs752977897
|
0.00001
|
NM_001276345.2(TNNT2):c.145G>A (p.Glu49Lys)
|
rs757526942
|
0.00001
|
NM_001276345.2(TNNT2):c.163+1G>T
|
rs113051005
|
0.00001
|
NM_001276345.2(TNNT2):c.200-4C>G
|
rs397516448
|
0.00001
|
NM_001276345.2(TNNT2):c.254T>G (p.Val85Gly)
|
rs730881095
|
0.00001
|
NM_001276345.2(TNNT2):c.349G>A (p.Glu117Lys)
|
rs730881099
|
0.00001
|
NM_001276345.2(TNNT2):c.404A>T (p.Asp135Val)
|
rs759758840
|
0.00001
|
NM_001276345.2(TNNT2):c.431G>A (p.Arg144Gln)
|
rs754037135
|
0.00001
|
NM_001276345.2(TNNT2):c.452G>A (p.Arg151Gln)
|
rs730881101
|
0.00001
|
NM_001276345.2(TNNT2):c.473G>A (p.Arg158Gln)
|
rs730881102
|
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.505C>T (p.Arg169Ter)
|
rs397516469
|
0.00001
|
NM_001276345.2(TNNT2):c.601-1G>A
|
rs483352835
|
0.00001
|
NM_001276345.2(TNNT2):c.613G>A (p.Glu205Lys)
|
rs150008205
|
0.00001
|
NM_001276345.2(TNNT2):c.677G>A (p.Arg226Lys)
|
rs1205564576
|
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.803A>T (p.Lys268Ile)
|
rs397516482
|
0.00001
|
NM_001276345.2(TNNT2):c.823C>T (p.Arg275Ter)
|
rs748970759
|
0.00001
|
NM_001276345.2(TNNT2):c.835A>G (p.Asn279Asp)
|
rs4523540
|
0.00001
|
NM_001276345.2(TNNT2):c.886C>T (p.Arg296Cys)
|
rs367785431
|
0.00001
|
NM_001289808.2(CRYAB):c.10G>A (p.Ala4Thr)
|
rs1264081192
|
0.00001
|
NM_001289808.2(CRYAB):c.112T>C (p.Phe38Leu)
|
rs1237590699
|
0.00001
|
NM_001289808.2(CRYAB):c.149G>A (p.Arg50Gln)
|
rs781846534
|
0.00001
|
NM_001289808.2(CRYAB):c.19C>T (p.His7Tyr)
|
rs1555165611
|
0.00001
|
NM_001289808.2(CRYAB):c.206G>A (p.Arg69His)
|
rs987496548
|
0.00001
|
NM_001289808.2(CRYAB):c.324+3A>G
|
rs1057520897
|
0.00001
|
NM_001289808.2(CRYAB):c.324G>C (p.Gln108His)
|
rs886039099
|
0.00001
|
NM_001289808.2(CRYAB):c.485C>T (p.Thr162Ile)
|
rs199861008
|
0.00001
|
NM_001289808.2(CRYAB):c.488G>A (p.Arg163His)
|
rs782207078
|
0.00001
|
NM_001289808.2(CRYAB):c.511G>A (p.Ala171Thr)
|
rs370803064
|
0.00001
|
NM_001289808.2(CRYAB):c.52C>T (p.His18Tyr)
|
rs373032047
|
0.00001
|
NM_001308093.3(GATA4):c.1031C>T (p.Ala344Val)
|
rs1199535707
|
0.00001
|
NM_001308093.3(GATA4):c.1303G>A (p.Asp435Asn)
|
rs745543448
|
0.00001
|
NM_001308093.3(GATA4):c.214G>T (p.Gly72Cys)
|
rs1310454033
|
0.00001
|
NM_001308093.3(GATA4):c.41C>G (p.Pro14Arg)
|
rs996317979
|
0.00001
|
NM_001308093.3(GATA4):c.631G>A (p.Asp211Asn)
|
rs377673676
|
0.00001
|
NM_001308093.3(GATA4):c.773C>T (p.Pro258Leu)
|
rs753457161
|
0.00001
|
NM_001308093.3(GATA4):c.94G>A (p.Ala32Thr)
|
rs773545065
|
0.00001
|
NM_001365276.2(TNXB):c.1106G>A (p.Ser369Asn)
|
rs779507521
|
0.00001
|
NM_001365276.2(TNXB):c.1132C>T (p.Arg378Trp)
|
rs372983350
|
0.00001
|
NM_001365276.2(TNXB):c.1358A>G (p.Asn453Ser)
|
rs547835381
|
0.00001
|
NM_001365276.2(TNXB):c.1424G>T (p.Arg475Leu)
|
rs1401291892
|
0.00001
|
NM_001365276.2(TNXB):c.1739A>G (p.Tyr580Cys)
|
rs761561411
|
0.00001
|
NM_001365276.2(TNXB):c.2646G>A (p.Val882=)
|
rs755470740
|
0.00001
|
NM_001365276.2(TNXB):c.3212C>G (p.Thr1071Arg)
|
rs573740606
|
0.00001
|
NM_001365276.2(TNXB):c.3826T>C (p.Ser1276Pro)
|
rs879263799
|
0.00001
|
NM_001365276.2(TNXB):c.4240C>T (p.Arg1414Trp)
|
rs565552445
|
0.00001
|
NM_001365276.2(TNXB):c.4552G>C (p.Val1518Leu)
|
rs376280627
|
0.00001
|
NM_001365276.2(TNXB):c.5098C>G (p.Gln1700Glu)
|
rs200248536
|
0.00001
|
NM_001365276.2(TNXB):c.5170C>T (p.Arg1724Cys)
|
rs897784867
|
0.00001
|
NM_001365276.2(TNXB):c.5276C>T (p.Thr1759Met)
|
rs778500698
|
0.00001
|
NM_001365276.2(TNXB):c.562C>T (p.Pro188Ser)
|
rs371794070
|
0.00001
|
NM_001365276.2(TNXB):c.631C>T (p.Pro211Ser)
|
rs559844112
|
0.00001
|
NM_001365276.2(TNXB):c.6514G>A (p.Val2172Met)
|
rs766408404
|
0.00001
|
NM_001365276.2(TNXB):c.6652G>A (p.Glu2218Lys)
|
rs530280191
|
0.00001
|
NM_001365276.2(TNXB):c.6694G>A (p.Asp2232Asn)
|
rs571291130
|
0.00001
|
NM_001365276.2(TNXB):c.6755T>C (p.Leu2252Pro)
|
rs369271286
|
0.00001
|
NM_001365276.2(TNXB):c.7783G>A (p.Glu2595Lys)
|
rs374803743
|
0.00001
|
NM_001365276.2(TNXB):c.8101G>A (p.Gly2701Ser)
|
rs367754667
|
0.00001
|
NM_001365276.2(TNXB):c.8200C>G (p.Pro2734Ala)
|
rs200810612
|
0.00001
|
NM_001365276.2(TNXB):c.8317A>T (p.Arg2773Trp)
|
rs572852092
|
0.00001
|
NM_001365276.2(TNXB):c.8323G>A (p.Gly2775Arg)
|
rs770521692
|
0.00001
|
NM_001365276.2(TNXB):c.8342G>A (p.Arg2781His)
|
rs780530688
|
0.00001
|
NM_001365276.2(TNXB):c.9064G>A (p.Gly3022Ser)
|
rs753710096
|
0.00001
|
NM_001365276.2(TNXB):c.9437C>T (p.Thr3146Met)
|
rs770332215
|
0.00001
|
NM_001365276.2(TNXB):c.9584C>T (p.Ser3195Phe)
|
rs768193578
|
0.00001
|
NM_001365276.2(TNXB):c.9812C>T (p.Ala3271Val)
|
rs2856444
|
0.00001
|
NM_001365276.2(TNXB):c.9988C>A (p.Leu3330Ile)
|
rs769294568
|
0.00001
|
NM_001367624.2(ZNF469):c.10333C>T (p.Arg3445Trp)
|
rs766994242
|
0.00001
|
NM_001367624.2(ZNF469):c.10352G>A (p.Arg3451His)
|
rs972190166
|
0.00001
|
NM_001367624.2(ZNF469):c.10763G>A (p.Gly3588Glu)
|
rs1294443050
|
0.00001
|
NM_001367624.2(ZNF469):c.10811C>T (p.Pro3604Leu)
|
rs957402222
|
0.00001
|
NM_001367624.2(ZNF469):c.10873A>G (p.Arg3625Gly)
|
rs563548368
|
0.00001
|
NM_001367624.2(ZNF469):c.1090G>A (p.Ala364Thr)
|
rs759454921
|
0.00001
|
NM_001367624.2(ZNF469):c.11344G>A (p.Ala3782Thr)
|
rs1327878609
|
0.00001
|
NM_001367624.2(ZNF469):c.11357C>G (p.Ala3786Gly)
|
rs749325593
|
0.00001
|
NM_001367624.2(ZNF469):c.11615C>T (p.Pro3872Leu)
|
rs974559662
|
0.00001
|
NM_001367624.2(ZNF469):c.11768G>A (p.Arg3923Gln)
|
rs281165935
|
0.00001
|
NM_001367624.2(ZNF469):c.1181C>T (p.Thr394Met)
|
rs1031189046
|
0.00001
|
NM_001367624.2(ZNF469):c.1204C>G (p.Pro402Ala)
|
rs1204157035
|
0.00001
|
NM_001367624.2(ZNF469):c.1339C>T (p.Pro447Ser)
|
rs931930346
|
0.00001
|
NM_001367624.2(ZNF469):c.1445T>C (p.Leu482Pro)
|
rs1179042965
|
0.00001
|
NM_001367624.2(ZNF469):c.1856G>T (p.Ser619Ile)
|
rs1187845779
|
0.00001
|
NM_001367624.2(ZNF469):c.2596G>A (p.Asp866Asn)
|
rs1242041437
|
0.00001
|
NM_001367624.2(ZNF469):c.3055C>T (p.Pro1019Ser)
|
rs937180195
|
0.00001
|
NM_001367624.2(ZNF469):c.3183C>T (p.Arg1061=)
|
rs756703220
|
0.00001
|
NM_001367624.2(ZNF469):c.3277G>A (p.Asp1093Asn)
|
rs973227993
|
0.00001
|
NM_001367624.2(ZNF469):c.4097T>C (p.Val1366Ala)
|
rs1252673809
|
0.00001
|
NM_001367624.2(ZNF469):c.419C>G (p.Pro140Arg)
|
rs1461017061
|
0.00001
|
NM_001367624.2(ZNF469):c.4556C>T (p.Ser1519Leu)
|
rs767278971
|
0.00001
|
NM_001367624.2(ZNF469):c.4946C>T (p.Ala1649Val)
|
rs1031009469
|
0.00001
|
NM_001367624.2(ZNF469):c.5069C>A (p.Ala1690Asp)
|
rs1230618809
|
0.00001
|
NM_001367624.2(ZNF469):c.5384C>A (p.Ala1795Asp)
|
rs1013562167
|
0.00001
|
NM_001367624.2(ZNF469):c.6016G>A (p.Gly2006Arg)
|
rs752527135
|
0.00001
|
NM_001367624.2(ZNF469):c.6095G>A (p.Gly2032Asp)
|
rs1363498031
|
0.00001
|
NM_001367624.2(ZNF469):c.638G>A (p.Ser213Asn)
|
rs1300492242
|
0.00001
|
NM_001367624.2(ZNF469):c.6413C>T (p.Ser2138Leu)
|
rs530318278
|
0.00001
|
NM_001367624.2(ZNF469):c.682C>G (p.Gln228Glu)
|
rs1388683384
|
0.00001
|
NM_001367624.2(ZNF469):c.7085C>T (p.Ser2362Phe)
|
rs1028993119
|
0.00001
|
NM_001367624.2(ZNF469):c.7159C>T (p.Arg2387Cys)
|
rs886052409
|
0.00001
|
NM_001367624.2(ZNF469):c.7257G>C (p.Gln2419His)
|
rs780605331
|
0.00001
|
NM_001367624.2(ZNF469):c.7291C>T (p.His2431Tyr)
|
rs904233607
|
0.00001
|
NM_001367624.2(ZNF469):c.7595G>T (p.Arg2532Met)
|
rs553909579
|
0.00001
|
NM_001367624.2(ZNF469):c.7627C>T (p.Arg2543Trp)
|
rs747677679
|
0.00001
|
NM_001367624.2(ZNF469):c.7775C>T (p.Pro2592Leu)
|
rs1906486689
|
0.00001
|
NM_001367624.2(ZNF469):c.796G>A (p.Gly266Ser)
|
rs1874240607
|
0.00001
|
NM_001367624.2(ZNF469):c.8111A>C (p.Glu2704Ala)
|
rs930146121
|
0.00001
|
NM_001367624.2(ZNF469):c.8573C>G (p.Ser2858Cys)
|
rs975435621
|
0.00001
|
NM_001367624.2(ZNF469):c.8653C>T (p.Pro2885Ser)
|
rs1324192956
|
0.00001
|
NM_001367624.2(ZNF469):c.8845C>G (p.Pro2949Ala)
|
rs992507100
|
0.00001
|
NM_001367624.2(ZNF469):c.8908G>T (p.Gly2970Cys)
|
rs1426809592
|
0.00001
|
NM_001367624.2(ZNF469):c.8984C>T (p.Ala2995Val)
|
rs759398721
|
0.00001
|
NM_001367624.2(ZNF469):c.9055G>A (p.Glu3019Lys)
|
rs765339766
|
0.00001
|
NM_001367624.2(ZNF469):c.9131C>T (p.Thr3044Met)
|
rs273585626
|
0.00001
|
NM_001367624.2(ZNF469):c.9316C>T (p.Arg3106Trp)
|
rs1292941352
|
0.00001
|
NM_001367624.2(ZNF469):c.931G>A (p.Gly311Arg)
|
rs930833316
|
0.00001
|
NM_001367624.2(ZNF469):c.9335G>A (p.Arg3112Gln)
|
rs942909542
|
0.00001
|
NM_001367624.2(ZNF469):c.9367C>T (p.Arg3123Cys)
|
rs902647292
|
0.00001
|
NM_001367624.2(ZNF469):c.974C>T (p.Pro325Leu)
|
rs546224574
|
0.00001
|
NM_001367624.2(ZNF469):c.9785C>T (p.Ala3262Val)
|
rs1309673757
|
0.00001
|
NM_001367624.2(ZNF469):c.9977C>A (p.Thr3326Asn)
|
rs1206417002
|
0.00001
|
NM_001368067.1(LDB3):c.803G>A (p.Arg268His)
|
rs751981682
|
0.00001
|
NM_001371904.1(APOA5):c.118A>G (p.Arg40Gly)
|
rs1057522953
|
0.00001
|
NM_001378454.1(ALMS1):c.10004G>T (p.Gly3335Val)
|
rs1344858585
|
0.00001
|
NM_001378454.1(ALMS1):c.10078+1G>T
|
rs765075310
|
0.00001
|
NM_001378454.1(ALMS1):c.10186A>G (p.Lys3396Glu)
|
rs1473998334
|
0.00001
|
NM_001378454.1(ALMS1):c.10214-4G>A
|
rs757482053
|
0.00001
|
NM_001378454.1(ALMS1):c.10217C>G (p.Ser3406Cys)
|
rs1279080725
|
0.00001
|
NM_001378454.1(ALMS1):c.10318A>G (p.Arg3440Gly)
|
rs746702722
|
0.00001
|
NM_001378454.1(ALMS1):c.10338G>T (p.Glu3446Asp)
|
rs928444733
|
0.00001
|
NM_001378454.1(ALMS1):c.103G>C (p.Ala35Pro)
|
rs955371491
|
0.00001
|
NM_001378454.1(ALMS1):c.10420C>T (p.Arg3474Cys)
|
rs759337193
|
0.00001
|
NM_001378454.1(ALMS1):c.10476T>G (p.Ser3492Arg)
|
rs1433521854
|
0.00001
|
NM_001378454.1(ALMS1):c.10526A>G (p.His3509Arg)
|
rs1674949532
|
0.00001
|
NM_001378454.1(ALMS1):c.10625A>G (p.Tyr3542Cys)
|
rs761771973
|
0.00001
|
NM_001378454.1(ALMS1):c.10635A>G (p.Ile3545Met)
|
rs760321819
|
0.00001
|
NM_001378454.1(ALMS1):c.10738C>G (p.Pro3580Ala)
|
rs746126446
|
0.00001
|
NM_001378454.1(ALMS1):c.10772C>A (p.Thr3591Lys)
|
rs773091397
|
0.00001
|
NM_001378454.1(ALMS1):c.10862A>G (p.Lys3621Arg)
|
rs1288339942
|
0.00001
|
NM_001378454.1(ALMS1):c.10973G>A (p.Arg3658Gln)
|
rs781344338
|
0.00001
|
NM_001378454.1(ALMS1):c.11116T>A (p.Ser3706Thr)
|
rs749624694
|
0.00001
|
NM_001378454.1(ALMS1):c.11192G>A (p.Ser3731Asn)
|
rs756136080
|
0.00001
|
NM_001378454.1(ALMS1):c.11204C>T (p.Ser3735Leu)
|
rs367877017
|
0.00001
|
NM_001378454.1(ALMS1):c.11284G>A (p.Glu3762Lys)
|
rs1243181452
|
0.00001
|
NM_001378454.1(ALMS1):c.11393G>A (p.Arg3798Lys)
|
rs1006564458
|
0.00001
|
NM_001378454.1(ALMS1):c.11401T>A (p.Leu3801Met)
|
rs780494417
|
0.00001
|
NM_001378454.1(ALMS1):c.11467C>T (p.Arg3823Trp)
|
rs17848868
|
0.00001
|
NM_001378454.1(ALMS1):c.11477A>G (p.His3826Arg)
|
rs371105298
|
0.00001
|
NM_001378454.1(ALMS1):c.11492T>G (p.Leu3831Arg)
|
rs777912782
|
0.00001
|
NM_001378454.1(ALMS1):c.1154G>A (p.Ser385Asn)
|
rs767078704
|
0.00001
|
NM_001378454.1(ALMS1):c.11728C>G (p.Pro3910Ala)
|
rs761099182
|
0.00001
|
NM_001378454.1(ALMS1):c.11797C>T (p.Arg3933Cys)
|
rs1356118595
|
0.00001
|
NM_001378454.1(ALMS1):c.11929G>A (p.Val3977Met)
|
rs185423930
|
0.00001
|
NM_001378454.1(ALMS1):c.12074G>A (p.Gly4025Asp)
|
rs199989044
|
0.00001
|
NM_001378454.1(ALMS1):c.12164G>A (p.Arg4055Gln)
|
rs752714698
|
0.00001
|
NM_001378454.1(ALMS1):c.12295A>G (p.Arg4099Gly)
|
rs1057524885
|
0.00001
|
NM_001378454.1(ALMS1):c.122T>C (p.Val41Ala)
|
rs1558624684
|
0.00001
|
NM_001378454.1(ALMS1):c.12355T>G (p.Ser4119Ala)
|
rs372734481
|
0.00001
|
NM_001378454.1(ALMS1):c.12362+5G>C
|
rs771226996
|
0.00001
|
NM_001378454.1(ALMS1):c.12367T>G (p.Tyr4123Asp)
|
rs963466695
|
0.00001
|
NM_001378454.1(ALMS1):c.12436C>T (p.Arg4146Trp)
|
rs763519566
|
0.00001
|
NM_001378454.1(ALMS1):c.1432+5G>A
|
rs755613962
|
0.00001
|
NM_001378454.1(ALMS1):c.1508A>G (p.Asp503Gly)
|
rs771835386
|
0.00001
|
NM_001378454.1(ALMS1):c.1717A>G (p.Ser573Gly)
|
rs143478466
|
0.00001
|
NM_001378454.1(ALMS1):c.1855T>C (p.Ser619Pro)
|
rs921968387
|
0.00001
|
NM_001378454.1(ALMS1):c.1859C>A (p.Thr620Asn)
|
rs1447523847
|
0.00001
|
NM_001378454.1(ALMS1):c.1865A>G (p.Tyr622Cys)
|
rs193922693
|
0.00001
|
NM_001378454.1(ALMS1):c.2138C>G (p.Ser713Cys)
|
rs771496254
|
0.00001
|
NM_001378454.1(ALMS1):c.2212G>A (p.Glu738Lys)
|
rs1057524883
|
0.00001
|
NM_001378454.1(ALMS1):c.2396A>G (p.Gln799Arg)
|
rs530083993
|
0.00001
|
NM_001378454.1(ALMS1):c.2542A>G (p.Thr848Ala)
|
rs777811953
|
0.00001
|
NM_001378454.1(ALMS1):c.25C>T (p.Pro9Ser)
|
rs769538172
|
0.00001
|
NM_001378454.1(ALMS1):c.2683G>A (p.Asp895Asn)
|
rs756206965
|
0.00001
|
NM_001378454.1(ALMS1):c.3062A>T (p.Tyr1021Phe)
|
rs574757598
|
0.00001
|
NM_001378454.1(ALMS1):c.323A>G (p.Lys108Arg)
|
rs1046964700
|
0.00001
|
NM_001378454.1(ALMS1):c.3272C>T (p.Ala1091Val)
|
rs1402063104
|
0.00001
|
NM_001378454.1(ALMS1):c.3310G>A (p.Gly1104Ser)
|
rs868703237
|
0.00001
|
NM_001378454.1(ALMS1):c.3472G>A (p.Ala1158Thr)
|
rs376302473
|
0.00001
|
NM_001378454.1(ALMS1):c.3514T>A (p.Ser1172Thr)
|
rs756748918
|
0.00001
|
NM_001378454.1(ALMS1):c.3605A>G (p.Tyr1202Cys)
|
rs772706904
|
0.00001
|
NM_001378454.1(ALMS1):c.400A>G (p.Asn134Asp)
|
rs780314593
|
0.00001
|
NM_001378454.1(ALMS1):c.4115G>A (p.Gly1372Asp)
|
rs1439442789
|
0.00001
|
NM_001378454.1(ALMS1):c.430C>T (p.Arg144Trp)
|
rs748293128
|
0.00001
|
NM_001378454.1(ALMS1):c.4360G>C (p.Glu1454Gln)
|
rs768816557
|
0.00001
|
NM_001378454.1(ALMS1):c.442G>A (p.Asp148Asn)
|
rs757606922
|
0.00001
|
NM_001378454.1(ALMS1):c.4430C>T (p.Ser1477Leu)
|
rs794727926
|
0.00001
|
NM_001378454.1(ALMS1):c.4450G>A (p.Val1484Ile)
|
rs779113815
|
0.00001
|
NM_001378454.1(ALMS1):c.465G>C (p.Trp155Cys)
|
rs1414087888
|
0.00001
|
NM_001378454.1(ALMS1):c.4924G>A (p.Val1642Met)
|
rs763324131
|
0.00001
|
NM_001378454.1(ALMS1):c.5017A>G (p.Ile1673Val)
|
rs773107767
|
0.00001
|
NM_001378454.1(ALMS1):c.5035C>G (p.Leu1679Val)
|
rs760829019
|
0.00001
|
NM_001378454.1(ALMS1):c.5173G>T (p.Ala1725Ser)
|
rs763052163
|
0.00001
|
NM_001378454.1(ALMS1):c.5484G>T (p.Leu1828Phe)
|
rs376996058
|
0.00001
|
NM_001378454.1(ALMS1):c.5558A>G (p.Gln1853Arg)
|
rs574696548
|
0.00001
|
NM_001378454.1(ALMS1):c.556G>C (p.Asp186His)
|
rs1044951470
|
0.00001
|
NM_001378454.1(ALMS1):c.5615C>T (p.Thr1872Ile)
|
rs762339692
|
0.00001
|
NM_001378454.1(ALMS1):c.5777A>G (p.Gln1926Arg)
|
rs376161519
|
0.00001
|
NM_001378454.1(ALMS1):c.5891C>A (p.Ala1964Asp)
|
rs1196949061
|
0.00001
|
NM_001378454.1(ALMS1):c.5905C>G (p.Pro1969Ala)
|
rs552496175
|
0.00001
|
NM_001378454.1(ALMS1):c.5956A>G (p.Ser1986Gly)
|
rs778684767
|
0.00001
|
NM_001378454.1(ALMS1):c.6020A>G (p.Gln2007Arg)
|
rs1047348249
|
0.00001
|
NM_001378454.1(ALMS1):c.6033T>G (p.Phe2011Leu)
|
rs1671969545
|
0.00001
|
NM_001378454.1(ALMS1):c.6077A>G (p.Lys2026Arg)
|
rs367904732
|
0.00001
|
NM_001378454.1(ALMS1):c.6092T>C (p.Ile2031Thr)
|
rs374673974
|
0.00001
|
NM_001378454.1(ALMS1):c.6121C>G (p.Gln2041Glu)
|
rs780824087
|
0.00001
|
NM_001378454.1(ALMS1):c.6138T>G (p.Ser2046Arg)
|
rs780566681
|
0.00001
|
NM_001378454.1(ALMS1):c.6190G>A (p.Asp2064Asn)
|
rs183773481
|
0.00001
|
NM_001378454.1(ALMS1):c.6199C>G (p.Gln2067Glu)
|
rs886042711
|
0.00001
|
NM_001378454.1(ALMS1):c.6251A>G (p.Asn2084Ser)
|
rs771084714
|
0.00001
|
NM_001378454.1(ALMS1):c.6359A>G (p.Lys2120Arg)
|
rs745919138
|
0.00001
|
NM_001378454.1(ALMS1):c.6477A>T (p.Arg2159Ser)
|
rs772943318
|
0.00001
|
NM_001378454.1(ALMS1):c.6584A>T (p.His2195Leu)
|
rs1671984408
|
0.00001
|
NM_001378454.1(ALMS1):c.6604G>A (p.Val2202Ile)
|
rs371544118
|
0.00001
|
NM_001378454.1(ALMS1):c.6629A>T (p.Asn2210Ile)
|
rs1026749292
|
0.00001
|
NM_001378454.1(ALMS1):c.6889T>A (p.Ser2297Thr)
|
rs771228376
|
0.00001
|
NM_001378454.1(ALMS1):c.7091A>C (p.Gln2364Pro)
|
rs370992564
|
0.00001
|
NM_001378454.1(ALMS1):c.7217C>T (p.Pro2406Leu)
|
rs1481573722
|
0.00001
|
NM_001378454.1(ALMS1):c.7376G>C (p.Ser2459Thr)
|
rs778055498
|
0.00001
|
NM_001378454.1(ALMS1):c.739A>G (p.Ser247Gly)
|
rs1055600080
|
0.00001
|
NM_001378454.1(ALMS1):c.7526G>A (p.Arg2509Gln)
|
rs551433143
|
0.00001
|
NM_001378454.1(ALMS1):c.7840A>G (p.Arg2614Gly)
|
rs769890820
|
0.00001
|
NM_001378454.1(ALMS1):c.8239G>T (p.Val2747Leu)
|
rs878855002
|
0.00001
|
NM_001378454.1(ALMS1):c.8420A>C (p.Gln2807Pro)
|
rs768782274
|
0.00001
|
NM_001378454.1(ALMS1):c.8541G>T (p.Met2847Ile)
|
rs1183007080
|
0.00001
|
NM_001378454.1(ALMS1):c.8560C>G (p.Leu2854Val)
|
rs765176591
|
0.00001
|
NM_001378454.1(ALMS1):c.873T>G (p.Ser291Arg)
|
rs747529881
|
0.00001
|
NM_001378454.1(ALMS1):c.8960T>C (p.Leu2987Pro)
|
rs1465260699
|
0.00001
|
NM_001378454.1(ALMS1):c.8974G>T (p.Asp2992Tyr)
|
rs937731506
|
0.00001
|
NM_001378454.1(ALMS1):c.9029T>C (p.Ile3010Thr)
|
rs780894681
|
0.00001
|
NM_001378454.1(ALMS1):c.9161A>G (p.Lys3054Arg)
|
rs778324244
|
0.00001
|
NM_001378454.1(ALMS1):c.9214G>C (p.Asp3072His)
|
rs1022898016
|
0.00001
|
NM_001378454.1(ALMS1):c.9397C>G (p.Pro3133Ala)
|
rs45493191
|
0.00001
|
NM_001378454.1(ALMS1):c.9454A>G (p.Ile3152Val)
|
rs761831256
|
0.00001
|
NM_001378454.1(ALMS1):c.951A>C (p.Gln317His)
|
rs1233763940
|
0.00001
|
NM_001378454.1(ALMS1):c.9553A>T (p.Met3185Leu)
|
rs1421714540
|
0.00001
|
NM_001378454.1(ALMS1):c.9652A>T (p.Ile3218Phe)
|
rs771768835
|
0.00001
|
NM_001378454.1(ALMS1):c.9669A>C (p.Glu3223Asp)
|
rs376206840
|
0.00001
|
NM_001378454.1(ALMS1):c.9702C>G (p.Asn3234Lys)
|
rs771376818
|
0.00001
|
NM_001378454.1(ALMS1):c.9782-4T>C
|
rs1313825506
|
0.00001
|
NM_001378454.1(ALMS1):c.9803A>G (p.Tyr3268Cys)
|
rs375515965
|
0.00001
|
NM_001378454.1(ALMS1):c.9871T>C (p.Ser3291Pro)
|
rs759591871
|
0.00001
|
NM_001378969.1(KCND3):c.1277G>A (p.Arg426His)
|
rs760274429
|
0.00001
|
NM_001378969.1(KCND3):c.1371G>A (p.Thr457=)
|
rs773858454
|
0.00001
|
NM_001378969.1(KCND3):c.1393A>G (p.Met465Val)
|
rs1245864814
|
0.00001
|
NM_001378969.1(KCND3):c.1427A>G (p.His476Arg)
|
rs1571626155
|
0.00001
|
NM_001378969.1(KCND3):c.1645C>T (p.Arg549Cys)
|
rs1294150954
|
0.00001
|
NM_001378969.1(KCND3):c.1724C>T (p.Thr575Met)
|
rs775768536
|
0.00001
|
NM_001378969.1(KCND3):c.1849A>G (p.Ile617Val)
|
rs948125814
|
0.00001
|
NM_001378969.1(KCND3):c.1861C>G (p.Pro621Ala)
|
rs752495973
|
0.00001
|
NM_001378969.1(KCND3):c.1879G>A (p.Gly627Arg)
|
rs372362132
|
0.00001
|
NM_001378969.1(KCND3):c.38G>A (p.Arg13Gln)
|
rs1339082402
|
0.00001
|
NM_001378969.1(KCND3):c.89C>A (p.Ala30Asp)
|
rs1307934269
|
0.00001
|
NM_001378969.1(KCND3):c.98A>T (p.Asp33Val)
|
rs760460512
|
0.00001
|
NM_001379200.1(TBX1):c.1025G>A (p.Gly342Asp)
|
rs1191464098
|
0.00001
|
NM_001379200.1(TBX1):c.1069G>T (p.Asp357Tyr)
|
rs1407996016
|
0.00001
|
NM_001379200.1(TBX1):c.1103C>A (p.Ala368Glu)
|
rs1157536437
|
0.00001
|
NM_001379200.1(TBX1):c.1240C>T (p.Pro414Ser)
|
rs757648761
|
0.00001
|
NM_001379200.1(TBX1):c.1297G>A (p.Asp433Asn)
|
rs758517884
|
0.00001
|
NM_001379200.1(TBX1):c.200C>T (p.Pro67Leu)
|
rs1936641756
|
0.00001
|
NM_001379200.1(TBX1):c.637G>A (p.Ala213Thr)
|
rs748232668
|
0.00001
|
NM_001458.5(FLNC):c.1054G>A (p.Val352Met)
|
rs773023988
|
0.00001
|
NM_001458.5(FLNC):c.1097T>C (p.Val366Ala)
|
rs1324323411
|
0.00001
|
NM_001458.5(FLNC):c.1171G>A (p.Val391Met)
|
rs757887021
|
0.00001
|
NM_001458.5(FLNC):c.1216G>A (p.Gly406Ser)
|
rs1343684536
|
0.00001
|
NM_001458.5(FLNC):c.1304C>T (p.Thr435Met)
|
rs199935488
|
0.00001
|
NM_001458.5(FLNC):c.1310G>A (p.Arg437His)
|
rs370138936
|
0.00001
|
NM_001458.5(FLNC):c.1406C>T (p.Ser469Leu)
|
rs1279257124
|
0.00001
|
NM_001458.5(FLNC):c.1412-5C>T
|
rs765122668
|
0.00001
|
NM_001458.5(FLNC):c.1418A>G (p.Asn473Ser)
|
rs747289343
|
0.00001
|
NM_001458.5(FLNC):c.1426G>T (p.Ala476Ser)
|
rs746359389
|
0.00001
|
NM_001458.5(FLNC):c.1433G>A (p.Arg478His)
|
rs749593461
|
0.00001
|
NM_001458.5(FLNC):c.1435G>A (p.Ala479Thr)
|
rs772697482
|
0.00001
|
NM_001458.5(FLNC):c.1468C>T (p.Arg490Cys)
|
rs1422233407
|
0.00001
|
NM_001458.5(FLNC):c.1469G>A (p.Arg490His)
|
rs1046320257
|
0.00001
|
NM_001458.5(FLNC):c.152A>G (p.Lys51Arg)
|
rs1807854319
|
0.00001
|
NM_001458.5(FLNC):c.161G>A (p.Gly54Asp)
|
rs1032152678
|
0.00001
|
NM_001458.5(FLNC):c.1663G>A (p.Ala555Thr)
|
rs1163059574
|
0.00001
|
NM_001458.5(FLNC):c.1729T>G (p.Trp577Gly)
|
rs757878206
|
0.00001
|
NM_001458.5(FLNC):c.1766C>T (p.Ser589Leu)
|
rs780098760
|
0.00001
|
NM_001458.5(FLNC):c.1825G>A (p.Glu609Lys)
|
rs758389160
|
0.00001
|
NM_001458.5(FLNC):c.1840G>A (p.Ala614Thr)
|
rs746183882
|
0.00001
|
NM_001458.5(FLNC):c.185G>A (p.Arg62His)
|
rs1308771065
|
0.00001
|
NM_001458.5(FLNC):c.1867G>A (p.Asp623Asn)
|
rs912680912
|
0.00001
|
NM_001458.5(FLNC):c.196G>T (p.Asp66Tyr)
|
rs1373245749
|
0.00001
|
NM_001458.5(FLNC):c.1979C>T (p.Pro660Leu)
|
rs775292418
|
0.00001
|
NM_001458.5(FLNC):c.2023C>T (p.Pro675Ser)
|
rs1227192105
|
0.00001
|
NM_001458.5(FLNC):c.2170G>A (p.Gly724Ser)
|
rs764774528
|
0.00001
|
NM_001458.5(FLNC):c.2191G>A (p.Val731Met)
|
rs757110783
|
0.00001
|
NM_001458.5(FLNC):c.2245G>A (p.Val749Met)
|
rs763901270
|
0.00001
|
NM_001458.5(FLNC):c.2263C>T (p.Arg755Trp)
|
rs990718751
|
0.00001
|
NM_001458.5(FLNC):c.2264G>A (p.Arg755Gln)
|
rs781101985
|
0.00001
|
NM_001458.5(FLNC):c.2265+5G>A
|
rs1049500135
|
0.00001
|
NM_001458.5(FLNC):c.2293G>A (p.Glu765Lys)
|
rs373798394
|
0.00001
|
NM_001458.5(FLNC):c.2305G>T (p.Val769Leu)
|
rs1046022647
|
0.00001
|
NM_001458.5(FLNC):c.2317G>A (p.Gly773Arg)
|
rs1322212555
|
0.00001
|
NM_001458.5(FLNC):c.232A>C (p.Ser78Arg)
|
rs746082496
|
0.00001
|
NM_001458.5(FLNC):c.2345A>G (p.Asn782Ser)
|
rs767436158
|
0.00001
|
NM_001458.5(FLNC):c.2361C>G (p.Phe787Leu)
|
rs1471063024
|
0.00001
|
NM_001458.5(FLNC):c.2389+4C>T
|
rs1057523921
|
0.00001
|
NM_001458.5(FLNC):c.2400C>A (p.Ser800Arg)
|
rs748717566
|
0.00001
|
NM_001458.5(FLNC):c.2404G>A (p.Gly802Ser)
|
rs371398126
|
0.00001
|
NM_001458.5(FLNC):c.2516G>A (p.Gly839Asp)
|
rs940353148
|
0.00001
|
NM_001458.5(FLNC):c.2557C>T (p.Pro853Ser)
|
rs374302753
|
0.00001
|
NM_001458.5(FLNC):c.2587C>G (p.Pro863Ala)
|
rs754750752
|
0.00001
|
NM_001458.5(FLNC):c.2617G>A (p.Glu873Lys)
|
rs771092335
|
0.00001
|
NM_001458.5(FLNC):c.2639C>T (p.Thr880Ile)
|
rs1324832799
|
0.00001
|
NM_001458.5(FLNC):c.2653G>A (p.Gly885Arg)
|
rs769110628
|
0.00001
|
NM_001458.5(FLNC):c.2672C>T (p.Thr891Met)
|
rs766023596
|
0.00001
|
NM_001458.5(FLNC):c.2767A>C (p.Asn923His)
|
rs1420123492
|
0.00001
|
NM_001458.5(FLNC):c.2780C>T (p.Ser927Phe)
|
rs1585158690
|
0.00001
|
NM_001458.5(FLNC):c.2811+4C>T
|
rs146715204
|
0.00001
|
NM_001458.5(FLNC):c.2811+5G>A
|
rs781538211
|
0.00001
|
NM_001458.5(FLNC):c.2884C>A (p.Pro962Thr)
|
rs765301554
|
0.00001
|
NM_001458.5(FLNC):c.2967C>A (p.Asn989Lys)
|
rs775727204
|
0.00001
|
NM_001458.5(FLNC):c.2983G>A (p.Gly995Ser)
|
rs752053093
|
0.00001
|
NM_001458.5(FLNC):c.2999A>C (p.Asp1000Ala)
|
rs1457558516
|
0.00001
|
NM_001458.5(FLNC):c.3080G>A (p.Arg1027His)
|
rs904161285
|
0.00001
|
NM_001458.5(FLNC):c.3127G>A (p.Asp1043Asn)
|
rs755896041
|
0.00001
|
NM_001458.5(FLNC):c.3137C>T (p.Pro1046Leu)
|
rs768820218
|
0.00001
|
NM_001458.5(FLNC):c.3467G>A (p.Ser1156Asn)
|
rs768725458
|
0.00001
|
NM_001458.5(FLNC):c.3475C>T (p.Arg1159Trp)
|
rs760500171
|
0.00001
|
NM_001458.5(FLNC):c.3476G>A (p.Arg1159Gln)
|
rs141199483
|
0.00001
|
NM_001458.5(FLNC):c.3745G>A (p.Asp1249Asn)
|
rs774968828
|
0.00001
|
NM_001458.5(FLNC):c.3773C>G (p.Pro1258Arg)
|
rs1425684282
|
0.00001
|
NM_001458.5(FLNC):c.3893C>T (p.Ala1298Val)
|
rs1064796931
|
0.00001
|
NM_001458.5(FLNC):c.3928G>A (p.Gly1310Ser)
|
rs767079356
|
0.00001
|
NM_001458.5(FLNC):c.4030G>A (p.Val1344Met)
|
rs374127804
|
0.00001
|
NM_001458.5(FLNC):c.4057G>A (p.Val1353Ile)
|
rs1321855034
|
0.00001
|
NM_001458.5(FLNC):c.4069G>A (p.Gly1357Arg)
|
rs1218299104
|
0.00001
|
NM_001458.5(FLNC):c.407C>T (p.Thr136Met)
|
rs748919727
|
0.00001
|
NM_001458.5(FLNC):c.4109G>A (p.Arg1370Gln)
|
rs761881020
|
0.00001
|
NM_001458.5(FLNC):c.4133C>T (p.Ala1378Val)
|
rs748008658
|
0.00001
|
NM_001458.5(FLNC):c.4141G>A (p.Gly1381Arg)
|
rs766513255
|
0.00001
|
NM_001458.5(FLNC):c.4180A>G (p.Lys1394Glu)
|
rs1430761286
|
0.00001
|
NM_001458.5(FLNC):c.4219G>A (p.Val1407Met)
|
rs375366821
|
0.00001
|
NM_001458.5(FLNC):c.4229T>A (p.Ile1410Asn)
|
rs778951900
|
0.00001
|
NM_001458.5(FLNC):c.4232C>T (p.Pro1411Leu)
|
rs1808589575
|
0.00001
|
NM_001458.5(FLNC):c.4303G>A (p.Val1435Met)
|
rs370643162
|
0.00001
|
NM_001458.5(FLNC):c.4310T>C (p.Val1437Ala)
|
rs754170282
|
0.00001
|
NM_001458.5(FLNC):c.4378C>T (p.Arg1460Trp)
|
rs376265227
|
0.00001
|
NM_001458.5(FLNC):c.4379G>A (p.Arg1460Gln)
|
rs773716930
|
0.00001
|
NM_001458.5(FLNC):c.439A>G (p.Met147Val)
|
rs539316555
|
0.00001
|
NM_001458.5(FLNC):c.4424C>T (p.Ala1475Val)
|
rs369305865
|
0.00001
|
NM_001458.5(FLNC):c.4471G>A (p.Val1491Met)
|
rs186904046
|
0.00001
|
NM_001458.5(FLNC):c.4549G>A (p.Val1517Ile)
|
rs532654321
|
0.00001
|
NM_001458.5(FLNC):c.4577G>A (p.Arg1526His)
|
rs374729872
|
0.00001
|
NM_001458.5(FLNC):c.4590G>T (p.Lys1530Asn)
|
rs778534100
|
0.00001
|
NM_001458.5(FLNC):c.4628G>A (p.Arg1543Gln)
|
rs369178040
|
0.00001
|
NM_001458.5(FLNC):c.4661T>C (p.Ile1554Thr)
|
rs777526166
|
0.00001
|
NM_001458.5(FLNC):c.4678G>C (p.Val1560Leu)
|
rs1351915127
|
0.00001
|
NM_001458.5(FLNC):c.4696G>A (p.Ala1566Thr)
|
rs1161262954
|
0.00001
|
NM_001458.5(FLNC):c.470G>A (p.Arg157His)
|
rs752919962
|
0.00001
|
NM_001458.5(FLNC):c.4741C>A (p.Pro1581Thr)
|
rs972936640
|
0.00001
|
NM_001458.5(FLNC):c.4795A>G (p.Thr1599Ala)
|
rs2643767
|
0.00001
|
NM_001458.5(FLNC):c.4879C>T (p.Arg1627Cys)
|
rs760407609
|
0.00001
|
NM_001458.5(FLNC):c.490C>T (p.Arg164Trp)
|
rs1460797312
|
0.00001
|
NM_001458.5(FLNC):c.4952G>A (p.Gly1651Asp)
|
rs762493974
|
0.00001
|
NM_001458.5(FLNC):c.5051C>T (p.Thr1684Met)
|
rs1294213097
|
0.00001
|
NM_001458.5(FLNC):c.5054C>T (p.Pro1685Leu)
|
rs1385628312
|
0.00001
|
NM_001458.5(FLNC):c.5111T>C (p.Ile1704Thr)
|
rs752850659
|
0.00001
|
NM_001458.5(FLNC):c.5132C>T (p.Pro1711Leu)
|
rs748879903
|
0.00001
|
NM_001458.5(FLNC):c.5155C>T (p.Arg1719Cys)
|
rs773260834
|
0.00001
|
NM_001458.5(FLNC):c.5176C>T (p.Pro1726Ser)
|
rs529240463
|
0.00001
|
NM_001458.5(FLNC):c.5191C>T (p.His1731Tyr)
|
rs1255727604
|
0.00001
|
NM_001458.5(FLNC):c.5272C>T (p.Arg1758Trp)
|
rs369187211
|
0.00001
|
NM_001458.5(FLNC):c.5275C>T (p.Pro1759Ser)
|
rs892618706
|
0.00001
|
NM_001458.5(FLNC):c.5332A>G (p.Met1778Val)
|
rs1347090077
|
0.00001
|
NM_001458.5(FLNC):c.5353T>A (p.Phe1785Ile)
|
rs1035403005
|
0.00001
|
NM_001458.5(FLNC):c.5446G>A (p.Asp1816Asn)
|
rs1198641168
|
0.00001
|
NM_001458.5(FLNC):c.5449A>T (p.Asn1817Tyr)
|
rs373146637
|
0.00001
|
NM_001458.5(FLNC):c.5523C>T (p.Asp1841=)
|
rs748504948
|
0.00001
|
NM_001458.5(FLNC):c.5670G>A (p.Gly1890=)
|
rs369881758
|
0.00001
|
NM_001458.5(FLNC):c.5686G>A (p.Val1896Met)
|
rs891651799
|
0.00001
|
NM_001458.5(FLNC):c.5758C>A (p.Pro1920Thr)
|
rs751937921
|
0.00001
|
NM_001458.5(FLNC):c.5765C>T (p.Ala1922Val)
|
rs377206490
|
0.00001
|
NM_001458.5(FLNC):c.5828C>T (p.Thr1943Ile)
|
rs376413798
|
0.00001
|
NM_001458.5(FLNC):c.5903A>C (p.Lys1968Thr)
|
rs777028481
|
0.00001
|
NM_001458.5(FLNC):c.590A>G (p.Asn197Ser)
|
rs1008787584
|
0.00001
|
NM_001458.5(FLNC):c.5915G>A (p.Ser1972Asn)
|
rs761342219
|
0.00001
|
NM_001458.5(FLNC):c.5962G>A (p.Glu1988Lys)
|
rs1288953274
|
0.00001
|
NM_001458.5(FLNC):c.6000C>G (p.His2000Gln)
|
rs1254027067
|
0.00001
|
NM_001458.5(FLNC):c.6043G>A (p.Val2015Met)
|
rs775231810
|
0.00001
|
NM_001458.5(FLNC):c.613G>A (p.Asp205Asn)
|
rs767740333
|
0.00001
|
NM_001458.5(FLNC):c.6149G>A (p.Gly2050Glu)
|
rs1261109029
|
0.00001
|
NM_001458.5(FLNC):c.61A>G (p.Met21Val)
|
rs1174042673
|
0.00001
|
NM_001458.5(FLNC):c.6233T>C (p.Ile2078Thr)
|
rs780762913
|
0.00001
|
NM_001458.5(FLNC):c.635A>G (p.Asn212Ser)
|
rs756723697
|
0.00001
|
NM_001458.5(FLNC):c.6391G>A (p.Glu2131Lys)
|
rs757511370
|
0.00001
|
NM_001458.5(FLNC):c.652G>A (p.Ala218Thr)
|
rs777415462
|
0.00001
|
NM_001458.5(FLNC):c.6530C>A (p.Thr2177Asn)
|
rs756345989
|
0.00001
|
NM_001458.5(FLNC):c.6590G>A (p.Arg2197Gln)
|
rs760535041
|
0.00001
|
NM_001458.5(FLNC):c.6608G>A (p.Arg2203His)
|
rs1063262
|
0.00001
|
NM_001458.5(FLNC):c.6610G>A (p.Glu2204Lys)
|
rs1476564683
|
0.00001
|
NM_001458.5(FLNC):c.6640G>A (p.Gly2214Ser)
|
rs1431110219
|
0.00001
|
NM_001458.5(FLNC):c.6659C>T (p.Ala2220Val)
|
rs370839908
|
0.00001
|
NM_001458.5(FLNC):c.6683G>A (p.Arg2228Gln)
|
rs765438770
|
0.00001
|
NM_001458.5(FLNC):c.6703G>A (p.Gly2235Ser)
|
rs752159793
|
0.00001
|
NM_001458.5(FLNC):c.6724G>A (p.Glu2242Lys)
|
rs1265897548
|
0.00001
|
NM_001458.5(FLNC):c.676G>A (p.Asp226Asn)
|
rs745775171
|
0.00001
|
NM_001458.5(FLNC):c.6807C>T (p.Gly2269=)
|
rs777337698
|
0.00001
|
NM_001458.5(FLNC):c.6877C>T (p.Arg2293Cys)
|
rs571239463
|
0.00001
|
NM_001458.5(FLNC):c.6889G>A (p.Val2297Met)
|
rs1420394583
|
0.00001
|
NM_001458.5(FLNC):c.6953G>A (p.Arg2318Gln)
|
rs749235580
|
0.00001
|
NM_001458.5(FLNC):c.6997+4A>G
|
rs1227552125
|
0.00001
|
NM_001458.5(FLNC):c.7094A>G (p.Lys2365Arg)
|
rs751765487
|
0.00001
|
NM_001458.5(FLNC):c.7222G>A (p.Ala2408Thr)
|
rs376257910
|
0.00001
|
NM_001458.5(FLNC):c.7226G>A (p.Arg2409His)
|
rs767279710
|
0.00001
|
NM_001458.5(FLNC):c.7280C>T (p.Ala2427Val)
|
rs1343869103
|
0.00001
|
NM_001458.5(FLNC):c.731A>G (p.Asn244Ser)
|
rs773579752
|
0.00001
|
NM_001458.5(FLNC):c.7364A>G (p.Tyr2455Cys)
|
rs769298304
|
0.00001
|
NM_001458.5(FLNC):c.7399C>T (p.Arg2467Cys)
|
rs1278916117
|
0.00001
|
NM_001458.5(FLNC):c.7423G>A (p.Val2475Ile)
|
rs191224002
|
0.00001
|
NM_001458.5(FLNC):c.7439T>C (p.Val2480Ala)
|
rs1376119645
|
0.00001
|
NM_001458.5(FLNC):c.7561G>A (p.Gly2521Ser)
|
rs746969946
|
0.00001
|
NM_001458.5(FLNC):c.7576T>A (p.Phe2526Ile)
|
rs373973635
|
0.00001
|
NM_001458.5(FLNC):c.7657C>T (p.Arg2553Trp)
|
rs199519281
|
0.00001
|
NM_001458.5(FLNC):c.7709A>G (p.Asn2570Ser)
|
rs1381739439
|
0.00001
|
NM_001458.5(FLNC):c.7732G>A (p.Gly2578Ser)
|
rs566747845
|
0.00001
|
NM_001458.5(FLNC):c.7795G>A (p.Gly2599Arg)
|
rs1389561527
|
0.00001
|
NM_001458.5(FLNC):c.7807C>T (p.Leu2603Phe)
|
rs746685461
|
0.00001
|
NM_001458.5(FLNC):c.7840G>A (p.Val2614Met)
|
rs745434129
|
0.00001
|
NM_001458.5(FLNC):c.7946T>C (p.Phe2649Ser)
|
rs755387909
|
0.00001
|
NM_001458.5(FLNC):c.802G>A (p.Val268Ile)
|
rs1210929657
|
0.00001
|
NM_001458.5(FLNC):c.8047T>A (p.Tyr2683Asn)
|
rs1377893206
|
0.00001
|
NM_001458.5(FLNC):c.851-5C>T
|
rs758216356
|
0.00001
|
NM_001458.5(FLNC):c.905C>T (p.Thr302Met)
|
rs776362922
|
0.00001
|
NM_001458.5(FLNC):c.970-3T>C
|
rs1250140261
|
0.00001
|
NM_001458.5(FLNC):c.986A>G (p.Asn329Ser)
|
rs536935095
|
0.00001
|
NM_001711.6(BGN):c.416A>T (p.Lys139Met)
|
rs1556993003
|
0.00001
|
NM_001711.6(BGN):c.508C>T (p.Arg170Cys)
|
rs782179570
|
0.00001
|
NM_001711.6(BGN):c.509G>A (p.Arg170His)
|
rs782454465
|
0.00001
|
NM_001743.6(CALM2):c.104C>T (p.Thr35Ile)
|
rs757523692
|
0.00001
|
NM_001927.4(DES):c.1038G>A (p.Met346Ile)
|
rs778340812
|
0.00001
|
NM_001927.4(DES):c.1063C>T (p.Arg355Ter)
|
rs762808690
|
0.00001
|
NM_001927.4(DES):c.1079C>T (p.Ala360Val)
|
rs141592925
|
0.00001
|
NM_001927.4(DES):c.1103C>T (p.Ala368Val)
|
rs371830218
|
0.00001
|
NM_001927.4(DES):c.1105C>T (p.Arg369Cys)
|
rs1475674849
|
0.00001
|
NM_001927.4(DES):c.1148G>A (p.Arg383His)
|
rs1292042317
|
0.00001
|
NM_001927.4(DES):c.1217G>A (p.Arg406Gln)
|
rs1057520275
|
0.00001
|
NM_001927.4(DES):c.1333A>G (p.Thr445Ala)
|
rs267607498
|
0.00001
|
NM_001927.4(DES):c.1361G>A (p.Arg454Gln)
|
rs541585670
|
0.00001
|
NM_001927.4(DES):c.1404A>C (p.Glu468Asp)
|
rs397516691
|
0.00001
|
NM_001927.4(DES):c.218G>A (p.Arg73Gln)
|
rs752518966
|
0.00001
|
NM_001927.4(DES):c.286G>T (p.Ala96Ser)
|
rs201190593
|
0.00001
|
NM_001927.4(DES):c.313C>T (p.Arg105Cys)
|
rs794728993
|
0.00001
|
NM_001927.4(DES):c.328G>C (p.Val110Leu)
|
rs373081285
|
0.00001
|
NM_001927.4(DES):c.415G>C (p.Glu139Gln)
|
rs763769862
|
0.00001
|
NM_001927.4(DES):c.488G>C (p.Arg163Pro)
|
rs1457012198
|
0.00001
|
NM_001927.4(DES):c.517C>A (p.Arg173Ser)
|
rs752944882
|
0.00001
|
NM_001927.4(DES):c.565C>T (p.Arg189Trp)
|
rs1223277151
|
0.00001
|
NM_001927.4(DES):c.593T>C (p.Ile198Thr)
|
rs773271116
|
0.00001
|
NM_001927.4(DES):c.600del (p.Lys201fs)
|
rs727504448
|
0.00001
|
NM_001927.4(DES):c.640-4C>G
|
rs375680081
|
0.00001
|
NM_001927.4(DES):c.664C>T (p.Arg222Cys)
|
rs374687448
|
0.00001
|
NM_001927.4(DES):c.710C>T (p.Ala237Val)
|
rs374144840
|
0.00001
|
NM_001927.4(DES):c.727C>T (p.His243Tyr)
|
rs769647148
|
0.00001
|
NM_001927.4(DES):c.746A>C (p.Glu249Ala)
|
rs1256488465
|
0.00001
|
NM_001927.4(DES):c.794T>C (p.Met265Thr)
|
rs1457398926
|
0.00001
|
NM_001927.4(DES):c.79G>A (p.Gly27Ser)
|
rs727504877
|
0.00001
|
NM_001927.4(DES):c.83C>T (p.Ser28Phe)
|
rs1954361986
|
0.00001
|
NM_001943.5(DSG2):c.1000G>A (p.Val334Met)
|
rs761360851
|
0.00001
|
NM_001943.5(DSG2):c.1013A>T (p.Lys338Met)
|
rs1454000095
|
0.00001
|
NM_001943.5(DSG2):c.1045G>A (p.Asp349Asn)
|
rs754281384
|
0.00001
|
NM_001943.5(DSG2):c.106A>G (p.Lys36Glu)
|
rs1441795357
|
0.00001
|
NM_001943.5(DSG2):c.1072G>A (p.Ala358Thr)
|
rs758537946
|
0.00001
|
NM_001943.5(DSG2):c.1105A>G (p.Lys369Glu)
|
rs727505208
|
0.00001
|
NM_001943.5(DSG2):c.1106A>T (p.Lys369Met)
|
rs375740419
|
0.00001
|
NM_001943.5(DSG2):c.1163T>G (p.Phe388Cys)
|
rs369214871
|
0.00001
|
NM_001943.5(DSG2):c.1281A>T (p.Arg427Ser)
|
rs370547219
|
0.00001
|
NM_001943.5(DSG2):c.1439C>T (p.Thr480Ile)
|
rs1598819592
|
0.00001
|
NM_001943.5(DSG2):c.1441A>G (p.Ile481Val)
|
rs368419383
|
0.00001
|
NM_001943.5(DSG2):c.1489C>A (p.Pro497Thr)
|
rs1293179210
|
0.00001
|
NM_001943.5(DSG2):c.1499T>C (p.Ile500Thr)
|
rs769741655
|
0.00001
|
NM_001943.5(DSG2):c.1520G>A (p.Cys507Tyr)
|
rs121913009
|
0.00001
|
NM_001943.5(DSG2):c.1622C>G (p.Ala541Gly)
|
rs764745535
|
0.00001
|
NM_001943.5(DSG2):c.1784A>G (p.His595Arg)
|
rs371326860
|
0.00001
|
NM_001943.5(DSG2):c.1921G>A (p.Ala641Thr)
|
rs1445203397
|
0.00001
|
NM_001943.5(DSG2):c.2001+3C>G
|
rs746471051
|
0.00001
|
NM_001943.5(DSG2):c.2068A>G (p.Met690Val)
|
rs1453554024
|
0.00001
|
NM_001943.5(DSG2):c.2074A>G (p.Lys692Glu)
|
rs997161591
|
0.00001
|
NM_001943.5(DSG2):c.2110A>G (p.Ile704Val)
|
rs141388237
|
0.00001
|
NM_001943.5(DSG2):c.2215A>G (p.Ile739Val)
|
rs772240008
|
0.00001
|
NM_001943.5(DSG2):c.2399C>G (p.Ser800Cys)
|
rs794728090
|
0.00001
|
NM_001943.5(DSG2):c.2420T>C (p.Leu807Pro)
|
rs1384172051
|
0.00001
|
NM_001943.5(DSG2):c.2525G>A (p.Gly842Asp)
|
rs374177723
|
0.00001
|
NM_001943.5(DSG2):c.2614G>C (p.Glu872Gln)
|
rs754057911
|
0.00001
|
NM_001943.5(DSG2):c.2642C>T (p.Thr881Ile)
|
rs760786694
|
0.00001
|
NM_001943.5(DSG2):c.2681T>G (p.Leu894Trp)
|
rs759746836
|
0.00001
|
NM_001943.5(DSG2):c.2690C>A (p.Ala897Asp)
|
rs765238150
|
0.00001
|
NM_001943.5(DSG2):c.3044T>C (p.Met1015Thr)
|
rs886053716
|
0.00001
|
NM_001943.5(DSG2):c.308T>C (p.Val103Ala)
|
rs876657790
|
0.00001
|
NM_001943.5(DSG2):c.445G>A (p.Val149Ile)
|
rs372606274
|
0.00001
|
NM_001943.5(DSG2):c.46A>G (p.Ile16Val)
|
rs376660601
|
0.00001
|
NM_001943.5(DSG2):c.523C>T (p.His175Tyr)
|
rs375422019
|
0.00001
|
NM_001943.5(DSG2):c.562G>A (p.Glu188Lys)
|
rs763948986
|
0.00001
|
NM_001943.5(DSG2):c.581C>T (p.Ser194Leu)
|
rs374875442
|
0.00001
|
NM_001943.5(DSG2):c.613C>T (p.Pro205Ser)
|
rs200946320
|
0.00001
|
NM_001943.5(DSG2):c.713C>T (p.Thr238Ile)
|
rs767523704
|
0.00001
|
NM_001943.5(DSG2):c.828+5C>T
|
rs373286117
|
0.00001
|
NM_001943.5(DSG2):c.872C>T (p.Thr291Met)
|
rs774563205
|
0.00001
|
NM_001943.5(DSG2):c.874C>T (p.Arg292Cys)
|
rs770921270
|
0.00001
|
NM_001943.5(DSG2):c.889G>A (p.Asp297Asn)
|
rs751012696
|
0.00001
|
NM_001943.5(DSG2):c.902T>C (p.Ile301Thr)
|
rs1370553229
|
0.00001
|
NM_001943.5(DSG2):c.908C>T (p.Ser303Phe)
|
rs757792714
|
0.00001
|
NM_001943.5(DSG2):c.998T>C (p.Ile333Thr)
|
rs773871942
|
0.00001
|
NM_001999.4(FBN2):c.1180C>T (p.Arg394Cys)
|
rs563228953
|
0.00001
|
NM_001999.4(FBN2):c.3958A>G (p.Met1320Val)
|
rs759481427
|
0.00001
|
NM_001999.4(FBN2):c.671T>C (p.Met224Thr)
|
rs886038798
|
0.00001
|
NM_001999.4(FBN2):c.8513A>G (p.Gln2838Arg)
|
rs772928933
|
0.00001
|
NM_002230.4(JUP):c.100G>A (p.Val34Met)
|
rs794729029
|
0.00001
|
NM_002230.4(JUP):c.1096C>A (p.Pro366Thr)
|
rs782690097
|
0.00001
|
NM_002230.4(JUP):c.1129C>A (p.Arg377Ser)
|
rs368564000
|
0.00001
|
NM_002230.4(JUP):c.1213G>A (p.Val405Ile)
|
rs200019016
|
0.00001
|
NM_002230.4(JUP):c.1308G>T (p.Glu436Asp)
|
rs782594495
|
0.00001
|
NM_002230.4(JUP):c.1333G>C (p.Ala445Pro)
|
rs782465430
|
0.00001
|
NM_002230.4(JUP):c.1336G>T (p.Gly446Cys)
|
rs781876461
|
0.00001
|
NM_002230.4(JUP):c.1378C>T (p.Arg460Cys)
|
rs782575391
|
0.00001
|
NM_002230.4(JUP):c.1391G>A (p.Ser464Asn)
|
rs1060502681
|
0.00001
|
NM_002230.4(JUP):c.1394G>A (p.Arg465His)
|
rs369486398
|
0.00001
|
NM_002230.4(JUP):c.1555C>G (p.Gln519Glu)
|
rs139454583
|
0.00001
|
NM_002230.4(JUP):c.1624G>A (p.Val542Ile)
|
rs571375136
|
0.00001
|
NM_002230.4(JUP):c.1652C>T (p.Thr551Met)
|
rs1038719021
|
0.00001
|
NM_002230.4(JUP):c.1667T>C (p.Met556Thr)
|
rs781884735
|
0.00001
|
NM_002230.4(JUP):c.1730G>A (p.Arg577His)
|
rs373434456
|
0.00001
|
NM_002230.4(JUP):c.1744C>T (p.Arg582Trp)
|
rs782205755
|
0.00001
|
NM_002230.4(JUP):c.1760C>T (p.Pro587Leu)
|
rs782490959
|
0.00001
|
NM_002230.4(JUP):c.1787C>T (p.Ser596Leu)
|
rs940226194
|
0.00001
|
NM_002230.4(JUP):c.1805G>A (p.Arg602His)
|
rs909955430
|
0.00001
|
NM_002230.4(JUP):c.1876G>A (p.Ala626Thr)
|
rs782547688
|
0.00001
|
NM_002230.4(JUP):c.1990G>A (p.Val664Met)
|
rs782695128
|
0.00001
|
NM_002230.4(JUP):c.2060T>C (p.Ile687Thr)
|
rs1181838480
|
0.00001
|
NM_002230.4(JUP):c.2084A>G (p.Asp695Gly)
|
rs781859850
|
0.00001
|
NM_002230.4(JUP):c.211G>T (p.Asp71Tyr)
|
rs781869872
|
0.00001
|
NM_002230.4(JUP):c.2132T>C (p.Leu711Pro)
|
rs782096012
|
0.00001
|
NM_002230.4(JUP):c.2149C>G (p.His717Asp)
|
rs1347008405
|
0.00001
|
NM_002230.4(JUP):c.2179G>A (p.Asp727Asn)
|
rs1285789744
|
0.00001
|
NM_002230.4(JUP):c.256C>T (p.Arg86Trp)
|
rs782240305
|
0.00001
|
NM_002230.4(JUP):c.285C>T (p.Gly95=)
|
rs1555605900
|
0.00001
|
NM_002230.4(JUP):c.343C>T (p.Arg115Ter)
|
rs782203227
|
0.00001
|
NM_002230.4(JUP):c.424C>T (p.Arg142Cys)
|
rs199591001
|
0.00001
|
NM_002230.4(JUP):c.562G>A (p.Ala188Thr)
|
rs782585387
|
0.00001
|
NM_002230.4(JUP):c.571C>T (p.Arg191Cys)
|
rs781905238
|
0.00001
|
NM_002230.4(JUP):c.628C>T (p.His210Tyr)
|
rs1567818128
|
0.00001
|
NM_002230.4(JUP):c.647G>A (p.Arg216Gln)
|
rs782498980
|
0.00001
|
NM_002230.4(JUP):c.698G>A (p.Arg233His)
|
rs1304500107
|
0.00001
|
NM_002230.4(JUP):c.705C>T (p.Leu235=)
|
rs887639693
|
0.00001
|
NM_002230.4(JUP):c.707+5C>A
|
rs375580484
|
0.00001
|
NM_002230.4(JUP):c.793C>T (p.Arg265Cys)
|
rs782761197
|
0.00001
|
NM_002230.4(JUP):c.794G>A (p.Arg265His)
|
rs782440692
|
0.00001
|
NM_002230.4(JUP):c.818T>C (p.Met273Thr)
|
rs782091454
|
0.00001
|
NM_002230.4(JUP):c.849G>T (p.Lys283Asn)
|
rs794729054
|
0.00001
|
NM_002230.4(JUP):c.868G>A (p.Asp290Asn)
|
rs982161216
|
0.00001
|
NM_002230.4(JUP):c.884T>C (p.Leu295Pro)
|
rs1567815863
|
0.00001
|
NM_002230.4(JUP):c.946G>A (p.Val316Met)
|
rs782285849
|
0.00001
|
NM_002294.3(LAMP2):c.1067A>G (p.Asn356Ser)
|
rs775416221
|
0.00001
|
NM_002294.3(LAMP2):c.1069G>A (p.Val357Met)
|
rs886038907
|
0.00001
|
NM_002294.3(LAMP2):c.188C>T (p.Thr63Ile)
|
rs1358581771
|
0.00001
|
NM_002294.3(LAMP2):c.205C>T (p.His69Tyr)
|
rs776875696
|
0.00001
|
NM_002294.3(LAMP2):c.209G>T (p.Gly70Val)
|
rs1340367353
|
0.00001
|
NM_002294.3(LAMP2):c.23C>T (p.Pro8Leu)
|
rs878854484
|
0.00001
|
NM_002294.3(LAMP2):c.253G>A (p.Gly85Ser)
|
rs371149731
|
0.00001
|
NM_002294.3(LAMP2):c.461A>G (p.Asn154Ser)
|
rs773525538
|
0.00001
|
NM_002294.3(LAMP2):c.520C>A (p.Gln174Lys)
|
rs104894857
|
0.00001
|
NM_002294.3(LAMP2):c.572A>T (p.Lys191Ile)
|
rs767918596
|
0.00001
|
NM_002294.3(LAMP2):c.959A>G (p.Tyr320Cys)
|
rs1292531971
|
0.00001
|
NM_002317.7(LOX):c.1207A>G (p.Thr403Ala)
|
rs554322205
|
0.00001
|
NM_002317.7(LOX):c.203G>C (p.Arg68Pro)
|
rs994242735
|
0.00001
|
NM_002317.7(LOX):c.218G>A (p.Gly73Asp)
|
rs766220173
|
0.00001
|
NM_002317.7(LOX):c.355C>A (p.Pro119Thr)
|
rs1336143561
|
0.00001
|
NM_002317.7(LOX):c.769T>C (p.Tyr257His)
|
rs768853538
|
0.00001
|
NM_002471.4(MYH6):c.1120G>T (p.Ala374Ser)
|
rs1891633873
|
0.00001
|
NM_002471.4(MYH6):c.1139A>C (p.Glu380Ala)
|
rs747070258
|
0.00001
|
NM_002471.4(MYH6):c.1373T>C (p.Ile458Thr)
|
rs774807696
|
0.00001
|
NM_002471.4(MYH6):c.1408G>T (p.Asp470Tyr)
|
rs777651128
|
0.00001
|
NM_002471.4(MYH6):c.1486G>A (p.Val496Met)
|
rs761085263
|
0.00001
|
NM_002471.4(MYH6):c.1492G>A (p.Glu498Lys)
|
rs375142167
|
0.00001
|
NM_002471.4(MYH6):c.1531T>C (p.Phe511Leu)
|
rs1319467982
|
0.00001
|
NM_002471.4(MYH6):c.1578G>C (p.Glu526Asp)
|
rs753062079
|
0.00001
|
NM_002471.4(MYH6):c.1726G>A (p.Ala576Thr)
|
rs1488705293
|
0.00001
|
NM_002471.4(MYH6):c.1750G>A (p.Ala584Thr)
|
rs138317414
|
0.00001
|
NM_002471.4(MYH6):c.1771A>G (p.Ile591Val)
|
rs1402004251
|
0.00001
|
NM_002471.4(MYH6):c.1816G>A (p.Val606Ile)
|
rs772688148
|
0.00001
|
NM_002471.4(MYH6):c.182C>T (p.Ala61Val)
|
rs730880148
|
0.00001
|
NM_002471.4(MYH6):c.1903A>G (p.Lys635Glu)
|
rs1566512077
|
0.00001
|
NM_002471.4(MYH6):c.1977del (p.Lys659fs)
|
rs780949569
|
0.00001
|
NM_002471.4(MYH6):c.2051-1G>A
|
rs773772551
|
0.00001
|
NM_002471.4(MYH6):c.2086C>T (p.Arg696Cys)
|
rs778886029
|
0.00001
|
NM_002471.4(MYH6):c.2087G>A (p.Arg696His)
|
rs757728653
|
0.00001
|
NM_002471.4(MYH6):c.2098G>A (p.Val700Met)
|
rs767142932
|
0.00001
|
NM_002471.4(MYH6):c.2273A>G (p.Tyr758Cys)
|
rs528854076
|
0.00001
|
NM_002471.4(MYH6):c.2292+1G>A
|
rs771569935
|
0.00001
|
NM_002471.4(MYH6):c.2336G>A (p.Arg779Gln)
|
rs1486610243
|
0.00001
|
NM_002471.4(MYH6):c.2365C>T (p.Arg789Cys)
|
rs200925880
|
0.00001
|
NM_002471.4(MYH6):c.2397G>A (p.Met799Ile)
|
rs199993769
|
0.00001
|
NM_002471.4(MYH6):c.2398C>T (p.Arg800Cys)
|
rs763477425
|
0.00001
|
NM_002471.4(MYH6):c.2426G>A (p.Arg809His)
|
rs780036697
|
0.00001
|
NM_002471.4(MYH6):c.253G>A (p.Asp85Asn)
|
rs397516758
|
0.00001
|
NM_002471.4(MYH6):c.2576G>C (p.Gly859Ala)
|
rs779528748
|
0.00001
|
NM_002471.4(MYH6):c.2684C>T (p.Ala895Val)
|
rs1372933415
|
0.00001
|
NM_002471.4(MYH6):c.2742G>T (p.Lys914Asn)
|
rs1312659522
|
0.00001
|
NM_002471.4(MYH6):c.2771T>C (p.Met924Thr)
|
rs746669440
|
0.00001
|
NM_002471.4(MYH6):c.2828G>A (p.Arg943His)
|
rs766640013
|
0.00001
|
NM_002471.4(MYH6):c.2928G>A (p.Lys976=)
|
rs757078942
|
0.00001
|
NM_002471.4(MYH6):c.2969T>A (p.Ile990Asn)
|
rs766362714
|
0.00001
|
NM_002471.4(MYH6):c.2974G>A (p.Ala992Thr)
|
rs779051645
|
0.00001
|
NM_002471.4(MYH6):c.2980C>A (p.Leu994Met)
|
rs727503238
|
0.00001
|
NM_002471.4(MYH6):c.3088G>C (p.Glu1030Gln)
|
rs779155360
|
0.00001
|
NM_002471.4(MYH6):c.3140G>A (p.Arg1047His)
|
rs775843647
|
0.00001
|
NM_002471.4(MYH6):c.3220G>A (p.Asp1074Asn)
|
rs375169402
|
0.00001
|
NM_002471.4(MYH6):c.3316C>A (p.Leu1106Ile)
|
rs1595055372
|
0.00001
|
NM_002471.4(MYH6):c.3506G>A (p.Arg1169His)
|
rs975923796
|
0.00001
|
NM_002471.4(MYH6):c.3532C>T (p.Arg1178Trp)
|
rs886039180
|
0.00001
|
NM_002471.4(MYH6):c.3533G>A (p.Arg1178Gln)
|
rs758572490
|
0.00001
|
NM_002471.4(MYH6):c.3584G>A (p.Arg1195His)
|
rs747891865
|
0.00001
|
NM_002471.4(MYH6):c.3658G>C (p.Glu1220Gln)
|
rs1180345753
|
0.00001
|
NM_002471.4(MYH6):c.3758C>T (p.Thr1253Met)
|
rs201051663
|
0.00001
|
NM_002471.4(MYH6):c.3784C>T (p.Arg1262Cys)
|
rs397516763
|
0.00001
|
NM_002471.4(MYH6):c.3836G>A (p.Arg1279Gln)
|
rs200014711
|
0.00001
|
NM_002471.4(MYH6):c.3838G>A (p.Ala1280Thr)
|
rs762102758
|
0.00001
|
NM_002471.4(MYH6):c.4027G>A (p.Asp1343Asn)
|
rs761711033
|
0.00001
|
NM_002471.4(MYH6):c.4048G>A (p.Glu1350Lys)
|
rs756392451
|
0.00001
|
NM_002471.4(MYH6):c.4150C>T (p.Arg1384Trp)
|
rs763926580
|
0.00001
|
NM_002471.4(MYH6):c.4292T>C (p.Met1431Thr)
|
rs146015292
|
0.00001
|
NM_002471.4(MYH6):c.4307G>A (p.Arg1436His)
|
rs142556730
|
0.00001
|
NM_002471.4(MYH6):c.4325C>T (p.Ala1442Val)
|
rs141534763
|
0.00001
|
NM_002471.4(MYH6):c.4369G>A (p.Glu1457Lys)
|
rs267606905
|
0.00001
|
NM_002471.4(MYH6):c.4396C>G (p.Gln1466Glu)
|
rs773067289
|
0.00001
|
NM_002471.4(MYH6):c.4424A>G (p.Glu1475Gly)
|
rs749826475
|
0.00001
|
NM_002471.4(MYH6):c.4465G>A (p.Ala1489Thr)
|
rs761539900
|
0.00001
|
NM_002471.4(MYH6):c.4471G>A (p.Glu1491Lys)
|
rs1314169075
|
0.00001
|
NM_002471.4(MYH6):c.4525G>T (p.Glu1509Ter)
|
rs200380187
|
0.00001
|
NM_002471.4(MYH6):c.4602G>C (p.Gln1534His)
|
rs199600772
|
0.00001
|
NM_002471.4(MYH6):c.4700T>G (p.Phe1567Cys)
|
rs750138024
|
0.00001
|
NM_002471.4(MYH6):c.4780C>T (p.Arg1594Trp)
|
rs545198745
|
0.00001
|
NM_002471.4(MYH6):c.4781G>A (p.Arg1594Gln)
|
rs146095234
|
0.00001
|
NM_002471.4(MYH6):c.4798C>A (p.Gln1600Lys)
|
rs770068575
|
0.00001
|
NM_002471.4(MYH6):c.4823G>A (p.Arg1608His)
|
rs747494958
|
0.00001
|
NM_002471.4(MYH6):c.4834G>A (p.Glu1612Lys)
|
rs1417882969
|
0.00001
|
NM_002471.4(MYH6):c.4874A>G (p.Asn1625Ser)
|
rs776765616
|
0.00001
|
NM_002471.4(MYH6):c.4900G>A (p.Ala1634Thr)
|
rs369767936
|
0.00001
|
NM_002471.4(MYH6):c.4907G>A (p.Arg1636His)
|
rs746448302
|
0.00001
|
NM_002471.4(MYH6):c.493A>T (p.Met165Leu)
|
rs972242173
|
0.00001
|
NM_002471.4(MYH6):c.4949G>A (p.Ser1650Asn)
|
rs767073355
|
0.00001
|
NM_002471.4(MYH6):c.4960-3C>T
|
rs1469231532
|
0.00001
|
NM_002471.4(MYH6):c.5072G>A (p.Arg1691His)
|
rs727504502
|
0.00001
|
NM_002471.4(MYH6):c.5278G>A (p.Ala1760Thr)
|
rs146539406
|
0.00001
|
NM_002471.4(MYH6):c.5297T>C (p.Met1766Thr)
|
rs760667847
|
0.00001
|
NM_002471.4(MYH6):c.5336C>A (p.Ala1779Asp)
|
rs769271404
|
0.00001
|
NM_002471.4(MYH6):c.5389C>G (p.His1797Asp)
|
rs752680603
|
0.00001
|
NM_002471.4(MYH6):c.5393G>A (p.Arg1798Gln)
|
rs759281871
|
0.00001
|
NM_002471.4(MYH6):c.5407G>C (p.Glu1803Gln)
|
rs768893054
|
0.00001
|
NM_002471.4(MYH6):c.5540G>A (p.Arg1847Gln)
|
rs767679378
|
0.00001
|
NM_002471.4(MYH6):c.5542C>T (p.Arg1848Cys)
|
rs570853853
|
0.00001
|
NM_002471.4(MYH6):c.5635G>A (p.Ala1879Thr)
|
rs1457647629
|
0.00001
|
NM_002471.4(MYH6):c.5645G>A (p.Arg1882His)
|
rs199755234
|
0.00001
|
NM_002471.4(MYH6):c.5653G>A (p.Glu1885Lys)
|
rs760353963
|
0.00001
|
NM_002471.4(MYH6):c.5767C>T (p.Arg1923Ter)
|
rs765861895
|
0.00001
|
NM_002471.4(MYH6):c.5805G>T (p.Met1935Ile)
|
rs372265811
|
0.00001
|
NM_002471.4(MYH6):c.5809G>A (p.Asp1937Asn)
|
rs878854503
|
0.00001
|
NM_002471.4(MYH6):c.643-3T>C
|
rs113552091
|
0.00001
|
NM_002471.4(MYH6):c.71T>C (p.Leu24Pro)
|
rs1320990570
|
0.00001
|
NM_002471.4(MYH6):c.760G>A (p.Gly254Arg)
|
rs765016322
|
0.00001
|
NM_002471.4(MYH6):c.779C>T (p.Ala260Val)
|
rs1470827277
|
0.00001
|
NM_002471.4(MYH6):c.77C>G (p.Ala26Gly)
|
rs559973480
|
0.00001
|
NM_002471.4(MYH6):c.940G>A (p.Val314Met)
|
rs1260228019
|
0.00001
|
NM_002474.3(MYH11):c.2098C>T (p.Arg700Trp)
|
rs886038932
|
0.00001
|
NM_002474.3(MYH11):c.3619G>A (p.Glu1207Lys)
|
rs371831822
|
0.00001
|
NM_002474.3(MYH11):c.4135A>C (p.Lys1379Gln)
|
rs753312858
|
0.00001
|
NM_002667.5(PLN):c.73C>T (p.Arg25Cys)
|
rs761056344
|
0.00001
|
NM_002667.5(PLN):c.74G>A (p.Arg25His)
|
rs1004405095
|
0.00001
|
NM_002709.3(PPP1CB):c.5C>T (p.Ala2Val)
|
rs1305465866
|
0.00001
|
NM_002755.4(MAP2K1):c.1066A>G (p.Met356Val)
|
rs1009731985
|
0.00001
|
NM_002755.4(MAP2K1):c.871A>G (p.Arg291Gly)
|
rs747807884
|
0.00001
|
NM_002834.5(PTPN11):c.1004A>C (p.Gln335Pro)
|
rs886041622
|
0.00001
|
NM_002834.5(PTPN11):c.1290C>A (p.Ser430Arg)
|
rs1178602062
|
0.00001
|
NM_002834.5(PTPN11):c.1380-5C>T
|
rs765455455
|
0.00001
|
NM_002834.5(PTPN11):c.1579C>T (p.Arg527Cys)
|
rs191525506
|
0.00001
|
NM_002834.5(PTPN11):c.1696A>T (p.Thr566Ser)
|
rs746712068
|
0.00001
|
NM_002834.5(PTPN11):c.642G>A (p.Gln214=)
|
rs876661383
|
0.00001
|
NM_002834.5(PTPN11):c.757-5T>C
|
rs1442154422
|
0.00001
|
NM_002834.5(PTPN11):c.827A>G (p.Lys276Arg)
|
rs777603059
|
0.00001
|
NM_002834.5(PTPN11):c.931A>G (p.Met311Val)
|
rs774939392
|
0.00001
|
NM_002834.5(PTPN11):c.967C>A (p.Pro323Thr)
|
rs779400765
|
0.00001
|
NM_002880.4(RAF1):c.-4A>C
|
rs368465923
|
0.00001
|
NM_002880.4(RAF1):c.1050G>T (p.Met350Ile)
|
rs368860450
|
0.00001
|
NM_002880.4(RAF1):c.1247A>G (p.Asn416Ser)
|
rs774198365
|
0.00001
|
NM_002880.4(RAF1):c.1334T>G (p.Leu445Arg)
|
rs757591797
|
0.00001
|
NM_002880.4(RAF1):c.1553G>A (p.Arg518Gln)
|
rs149580968
|
0.00001
|
NM_002880.4(RAF1):c.1657A>C (p.Asn553His)
|
rs745876012
|
0.00001
|
NM_002880.4(RAF1):c.1741A>G (p.Met581Val)
|
rs752063874
|
0.00001
|
NM_002880.4(RAF1):c.1885G>T (p.Ala629Ser)
|
rs1243841152
|
0.00001
|
NM_002880.4(RAF1):c.1901T>C (p.Ile634Thr)
|
rs1013186582
|
0.00001
|
NM_002880.4(RAF1):c.1910G>A (p.Cys637Tyr)
|
rs769639669
|
0.00001
|
NM_002880.4(RAF1):c.23G>C (p.Trp8Ser)
|
rs780550449
|
0.00001
|
NM_002880.4(RAF1):c.31A>T (p.Ile11Phe)
|
rs779001930
|
0.00001
|
NM_002880.4(RAF1):c.347C>G (p.Thr116Ser)
|
rs1285131074
|
0.00001
|
NM_002880.4(RAF1):c.462C>G (p.Ile154Met)
|
rs367732360
|
0.00001
|
NM_002880.4(RAF1):c.482A>G (p.Asn161Ser)
|
rs775781057
|
0.00001
|
NM_002880.4(RAF1):c.589C>G (p.Pro197Ala)
|
rs563575013
|
0.00001
|
NM_002880.4(RAF1):c.676G>A (p.Val226Ile)
|
rs746448519
|
0.00001
|
NM_002880.4(RAF1):c.683C>G (p.Ser228Cys)
|
rs766437069
|
0.00001
|
NM_002880.4(RAF1):c.770C>G (p.Ser257Trp)
|
rs80338796
|
0.00001
|
NM_002880.4(RAF1):c.791A>T (p.His264Leu)
|
rs1057517887
|
0.00001
|
NM_002880.4(RAF1):c.835G>A (p.Asp279Asn)
|
rs368796800
|
0.00001
|
NM_002880.4(RAF1):c.845G>A (p.Arg282Gln)
|
rs752713997
|
0.00001
|
NM_002880.4(RAF1):c.915G>T (p.Trp305Cys)
|
rs774670909
|
0.00001
|
NM_002880.4(RAF1):c.953G>A (p.Arg318Gln)
|
rs757937109
|
0.00001
|
NM_002890.3(RASA1):c.1067T>C (p.Ile356Thr)
|
rs1459576919
|
0.00001
|
NM_002890.3(RASA1):c.1073A>G (p.Lys358Arg)
|
rs913909238
|
0.00001
|
NM_002890.3(RASA1):c.1172G>A (p.Arg391Gln)
|
rs770469001
|
0.00001
|
NM_002890.3(RASA1):c.146A>G (p.Tyr49Cys)
|
rs1580178685
|
0.00001
|
NM_002890.3(RASA1):c.179C>T (p.Thr60Ile)
|
rs779770765
|
0.00001
|
NM_002890.3(RASA1):c.17C>T (p.Ala6Val)
|
rs1010729751
|
0.00001
|
NM_002890.3(RASA1):c.2747A>G (p.Asn916Ser)
|
rs765747521
|
0.00001
|
NM_002890.3(RASA1):c.3049G>A (p.Gly1017Ser)
|
rs1762319822
|
0.00001
|
NM_002890.3(RASA1):c.338A>T (p.Asp113Val)
|
rs748658296
|
0.00001
|
NM_002890.3(RASA1):c.917T>C (p.Met306Thr)
|
rs757272694
|
0.00001
|
NM_003098.3(SNTA1):c.1021G>A (p.Ala341Thr)
|
rs754242619
|
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.1279A>G (p.Ile427Val)
|
rs151158866
|
0.00001
|
NM_003098.3(SNTA1):c.1325G>A (p.Arg442Gln)
|
rs746800138
|
0.00001
|
NM_003098.3(SNTA1):c.1394T>C (p.Phe465Ser)
|
rs774908810
|
0.00001
|
NM_003098.3(SNTA1):c.1425+1G>A
|
rs113809208
|
0.00001
|
NM_003098.3(SNTA1):c.1484C>T (p.Ser495Leu)
|
rs144006909
|
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.364G>A (p.Ala122Thr)
|
rs151113230
|
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.459G>T (p.Gln153His)
|
rs1471172997
|
0.00001
|
NM_003098.3(SNTA1):c.467A>G (p.Lys156Arg)
|
rs772004957
|
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.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.955A>G (p.Lys319Glu)
|
rs766990229
|
0.00001
|
NM_003098.3(SNTA1):c.991C>T (p.Arg331Cys)
|
rs769528459
|
0.00001
|
NM_003242.6(TGFBR2):c.1153A>G (p.Ile385Val)
|
rs137908708
|
0.00001
|
NM_003242.6(TGFBR2):c.1207C>T (p.Arg403Cys)
|
rs886038960
|
0.00001
|
NM_003280.3(TNNC1):c.180G>A (p.Met60Ile)
|
rs1471808574
|
0.00001
|
NM_003280.3(TNNC1):c.202+5G>C
|
rs759472560
|
0.00001
|
NM_003280.3(TNNC1):c.208G>A (p.Gly70Ser)
|
rs772752716
|
0.00001
|
NM_003280.3(TNNC1):c.242T>C (p.Met81Thr)
|
rs771216638
|
0.00001
|
NM_003280.3(TNNC1):c.304C>T (p.Arg102Cys)
|
rs370103102
|
0.00001
|
NM_003280.3(TNNC1):c.305G>A (p.Arg102His)
|
rs143020831
|
0.00001
|
NM_003280.3(TNNC1):c.386C>T (p.Thr129Met)
|
rs749367654
|
0.00001
|
NM_003280.3(TNNC1):c.402G>T (p.Glu134Asp)
|
rs397516847
|
0.00001
|
NM_003280.3(TNNC1):c.418G>A (p.Gly140Arg)
|
rs752100917
|
0.00001
|
NM_003280.3(TNNC1):c.419G>A (p.Gly140Glu)
|
rs764835690
|
0.00001
|
NM_003280.3(TNNC1):c.430A>G (p.Asn144Asp)
|
rs730881061
|
0.00001
|
NM_003280.3(TNNC1):c.436G>A (p.Gly146Ser)
|
rs567327895
|
0.00001
|
NM_003280.3(TNNC1):c.469A>C (p.Met157Leu)
|
rs730880230
|
0.00001
|
NM_003476.5(CSRP3):c.152C>A (p.Ala51Asp)
|
rs397516853
|
0.00001
|
NM_003476.5(CSRP3):c.168C>G (p.Ile56Met)
|
rs767360228
|
0.00001
|
NM_003476.5(CSRP3):c.206A>G (p.Lys69Arg)
|
rs137852764
|
0.00001
|
NM_003476.5(CSRP3):c.251C>T (p.Thr84Met)
|
rs777327517
|
0.00001
|
NM_003476.5(CSRP3):c.255C>T (p.Gly85=)
|
rs752338221
|
0.00001
|
NM_003476.5(CSRP3):c.283T>G (p.Ser95Ala)
|
rs1190724900
|
0.00001
|
NM_003476.5(CSRP3):c.284C>T (p.Ser95Phe)
|
rs767477787
|
0.00001
|
NM_003476.5(CSRP3):c.29G>A (p.Cys10Tyr)
|
rs141980088
|
0.00001
|
NM_003476.5(CSRP3):c.302C>T (p.Ser101Leu)
|
rs746707959
|
0.00001
|
NM_003476.5(CSRP3):c.367T>C (p.Cys123Arg)
|
rs1301857786
|
0.00001
|
NM_003476.5(CSRP3):c.369T>A (p.Cys123Ter)
|
rs1216811263
|
0.00001
|
NM_003476.5(CSRP3):c.40G>C (p.Glu14Gln)
|
rs777883490
|
0.00001
|
NM_003476.5(CSRP3):c.415-1G>T
|
rs775194825
|
0.00001
|
NM_003476.5(CSRP3):c.576G>C (p.Lys192Asn)
|
rs141100524
|
0.00001
|
NM_003476.5(CSRP3):c.86G>A (p.Ser29Asn)
|
rs372717179
|
0.00001
|
NM_003480.4(MFAP5):c.300G>A (p.Pro100=)
|
rs1294533558
|
0.00001
|
NM_003673.4(TCAP):c.171C>G (p.Cys57Trp)
|
rs369447207
|
0.00001
|
NM_003673.4(TCAP):c.194C>T (p.Pro65Leu)
|
rs2057250642
|
0.00001
|
NM_003673.4(TCAP):c.202A>T (p.Met68Leu)
|
rs770133993
|
0.00001
|
NM_003673.4(TCAP):c.227G>A (p.Arg76His)
|
rs752435787
|
0.00001
|
NM_003673.4(TCAP):c.473G>A (p.Arg158His)
|
rs397516864
|
0.00001
|
NM_003673.4(TCAP):c.49C>T (p.Arg17Cys)
|
rs869025530
|
0.00001
|
NM_003673.4(TCAP):c.52C>T (p.Arg18Trp)
|
rs886038989
|
0.00001
|
NM_003673.4(TCAP):c.98G>A (p.Arg33Gln)
|
rs1085307822
|
0.00001
|
NM_004006.3(DMD):c.10212C>G (p.Asp3404Glu)
|
rs367657320
|
0.00001
|
NM_004006.3(DMD):c.10712G>A (p.Arg3571His)
|
rs935091512
|
0.00001
|
NM_004006.3(DMD):c.1150-4T>A
|
rs794727031
|
0.00001
|
NM_004006.3(DMD):c.1162G>T (p.Asp388Tyr)
|
rs1454929812
|
0.00001
|
NM_004006.3(DMD):c.1712T>C (p.Phe571Ser)
|
rs1326680081
|
0.00001
|
NM_004006.3(DMD):c.1734A>T (p.Lys578Asn)
|
rs754347572
|
0.00001
|
NM_004006.3(DMD):c.1749C>G (p.Asn583Lys)
|
rs775846754
|
0.00001
|
NM_004006.3(DMD):c.1754T>G (p.Ile585Ser)
|
rs376238937
|
0.00001
|
NM_004006.3(DMD):c.1907T>C (p.Val636Ala)
|
rs764008354
|
0.00001
|
NM_004006.3(DMD):c.2146G>C (p.Val716Leu)
|
rs886043081
|
0.00001
|
NM_004006.3(DMD):c.2297T>C (p.Ile766Thr)
|
rs1443021146
|
0.00001
|
NM_004006.3(DMD):c.2312C>T (p.Ala771Val)
|
rs1245604423
|
0.00001
|
NM_004006.3(DMD):c.2472C>G (p.Asn824Lys)
|
rs778811645
|
0.00001
|
NM_004006.3(DMD):c.2473T>G (p.Trp825Gly)
|
rs769988372
|
0.00001
|
NM_004006.3(DMD):c.2599A>G (p.Lys867Glu)
|
rs1382610511
|
0.00001
|
NM_004006.3(DMD):c.2617T>C (p.Cys873Arg)
|
rs200872948
|
0.00001
|
NM_004006.3(DMD):c.2635C>T (p.Arg879Trp)
|
rs1603634614
|
0.00001
|
NM_004006.3(DMD):c.2645A>T (p.Asp882Val)
|
rs228406
|
0.00001
|
NM_004006.3(DMD):c.2656C>G (p.Gln886Glu)
|
rs754893725
|
0.00001
|
NM_004006.3(DMD):c.2764T>G (p.Phe922Val)
|
rs185395584
|
0.00001
|
NM_004006.3(DMD):c.2785G>A (p.Glu929Lys)
|
rs772679497
|
0.00001
|
NM_004006.3(DMD):c.2972A>G (p.Glu991Gly)
|
rs747374618
|
0.00001
|
NM_004006.3(DMD):c.3098C>T (p.Ser1033Phe)
|
rs377415288
|
0.00001
|
NM_004006.3(DMD):c.3152G>A (p.Arg1051Gln)
|
rs761715369
|
0.00001
|
NM_004006.3(DMD):c.3193G>C (p.Ala1065Pro)
|
rs774756042
|
0.00001
|
NM_004006.3(DMD):c.3239A>G (p.Asp1080Gly)
|
rs886043493
|
0.00001
|
NM_004006.3(DMD):c.3283G>C (p.Val1095Leu)
|
rs183819382
|
0.00001
|
NM_004006.3(DMD):c.3446A>C (p.Lys1149Thr)
|
rs398123940
|
0.00001
|
NM_004006.3(DMD):c.3777G>A (p.Lys1259=)
|
rs1445951268
|
0.00001
|
NM_004006.3(DMD):c.3848A>G (p.Asn1283Ser)
|
rs778145106
|
0.00001
|
NM_004006.3(DMD):c.3982C>G (p.Gln1328Glu)
|
rs745640786
|
0.00001
|
NM_004006.3(DMD):c.399A>T (p.Gln133His)
|
rs1358899513
|
0.00001
|
NM_004006.3(DMD):c.4040T>A (p.Phe1347Tyr)
|
rs1466636716
|
0.00001
|
NM_004006.3(DMD):c.4234-4A>G
|
rs764846703
|
0.00001
|
NM_004006.3(DMD):c.4376G>A (p.Arg1459Gln)
|
rs755835144
|
0.00001
|
NM_004006.3(DMD):c.4449G>A (p.Met1483Ile)
|
rs765355046
|
0.00001
|
NM_004006.3(DMD):c.4510C>T (p.His1504Tyr)
|
rs1469008607
|
0.00001
|
NM_004006.3(DMD):c.4628A>G (p.Glu1543Gly)
|
rs746681404
|
0.00001
|
NM_004006.3(DMD):c.5074A>G (p.Thr1692Ala)
|
rs367674503
|
0.00001
|
NM_004006.3(DMD):c.5123A>G (p.Lys1708Arg)
|
rs775302077
|
0.00001
|
NM_004006.3(DMD):c.5156G>A (p.Arg1719His)
|
rs1273883368
|
0.00001
|
NM_004006.3(DMD):c.5183G>A (p.Arg1728His)
|
rs780599147
|
0.00001
|
NM_004006.3(DMD):c.5531G>A (p.Arg1844Gln)
|
rs751221923
|
0.00001
|
NM_004006.3(DMD):c.554G>A (p.Ser185Asn)
|
rs1168876204
|
0.00001
|
NM_004006.3(DMD):c.602A>T (p.Asn201Ile)
|
rs1030277417
|
0.00001
|
NM_004006.3(DMD):c.6200C>T (p.Thr2067Met)
|
rs1405599353
|
0.00001
|
NM_004006.3(DMD):c.657T>A (p.Asp219Glu)
|
rs771312947
|
0.00001
|
NM_004006.3(DMD):c.6614+4G>A
|
rs1475894426
|
0.00001
|
NM_004006.3(DMD):c.6623A>G (p.Glu2208Gly)
|
rs139937177
|
0.00001
|
NM_004006.3(DMD):c.6632A>G (p.Asn2211Ser)
|
rs900089672
|
0.00001
|
NM_004006.3(DMD):c.682A>G (p.Ile228Val)
|
rs904314683
|
0.00001
|
NM_004006.3(DMD):c.6896A>C (p.Asn2299Thr)
|
rs747055774
|
0.00001
|
NM_004006.3(DMD):c.694A>C (p.Ile232Leu)
|
rs758447768
|
0.00001
|
NM_004006.3(DMD):c.7150T>C (p.Ser2384Pro)
|
rs1351313240
|
0.00001
|
NM_004006.3(DMD):c.7273C>T (p.Pro2425Ser)
|
rs1318139017
|
0.00001
|
NM_004006.3(DMD):c.7499T>C (p.Val2500Ala)
|
rs867197764
|
0.00001
|
NM_004006.3(DMD):c.74T>C (p.Val25Ala)
|
rs886039061
|
0.00001
|
NM_004006.3(DMD):c.769C>T (p.Pro257Ser)
|
rs1305908922
|
0.00001
|
NM_004006.3(DMD):c.7853A>G (p.Lys2618Arg)
|
rs972664841
|
0.00001
|
NM_004006.3(DMD):c.7981A>G (p.Met2661Val)
|
rs764521635
|
0.00001
|
NM_004006.3(DMD):c.8000A>G (p.Asn2667Ser)
|
rs371437381
|
0.00001
|
NM_004006.3(DMD):c.80C>T (p.Ala27Val)
|
rs763407275
|
0.00001
|
NM_004006.3(DMD):c.836C>T (p.Thr279Met)
|
rs369135184
|
0.00001
|
NM_004006.3(DMD):c.8509G>A (p.Asp2837Asn)
|
rs965718917
|
0.00001
|
NM_004006.3(DMD):c.8605G>C (p.Val2869Leu)
|
rs2068037888
|
0.00001
|
NM_004006.3(DMD):c.8705G>A (p.Arg2902Gln)
|
rs754308757
|
0.00001
|
NM_004006.3(DMD):c.8745G>T (p.Trp2915Cys)
|
rs761750882
|
0.00001
|
NM_004006.3(DMD):c.8858C>A (p.Ala2953Asp)
|
rs773941387
|
0.00001
|
NM_004006.3(DMD):c.8885C>T (p.Pro2962Leu)
|
rs151087470
|
0.00001
|
NM_004006.3(DMD):c.8887G>A (p.Val2963Met)
|
rs756567967
|
0.00001
|
NM_004006.3(DMD):c.8996C>T (p.Ala2999Val)
|
rs762577093
|
0.00001
|
NM_004006.3(DMD):c.9478C>T (p.Arg3160Cys)
|
rs779233737
|
0.00001
|
NM_004006.3(DMD):c.9931G>A (p.Ala3311Thr)
|
rs1348920866
|
0.00001
|
NM_004100.5(EYA4):c.1066C>G (p.Arg356Gly)
|
rs776882781
|
0.00001
|
NM_004100.5(EYA4):c.1078C>A (p.Pro360Thr)
|
rs765773822
|
0.00001
|
NM_004100.5(EYA4):c.1109G>A (p.Arg370His)
|
rs143936434
|
0.00001
|
NM_004100.5(EYA4):c.1222C>T (p.Arg408Cys)
|
rs775741050
|
0.00001
|
NM_004100.5(EYA4):c.1253A>G (p.Asp418Gly)
|
rs1363400539
|
0.00001
|
NM_004100.5(EYA4):c.1294G>C (p.Val432Leu)
|
rs145253833
|
0.00001
|
NM_004100.5(EYA4):c.1434G>T (p.Met478Ile)
|
rs1187396214
|
0.00001
|
NM_004100.5(EYA4):c.1624T>G (p.Cys542Gly)
|
rs1429034123
|
0.00001
|
NM_004100.5(EYA4):c.1893C>G (p.His631Gln)
|
rs769828566
|
0.00001
|
NM_004100.5(EYA4):c.271G>T (p.Ala91Ser)
|
rs1356492542
|
0.00001
|
NM_004100.5(EYA4):c.2T>C (p.Met1Thr)
|
rs200593099
|
0.00001
|
NM_004100.5(EYA4):c.349C>T (p.Leu117Phe)
|
rs1044216762
|
0.00001
|
NM_004100.5(EYA4):c.407A>G (p.His136Arg)
|
rs751662203
|
0.00001
|
NM_004100.5(EYA4):c.478A>G (p.Met160Val)
|
rs1268878098
|
0.00001
|
NM_004100.5(EYA4):c.509C>T (p.Ser170Leu)
|
rs184768806
|
0.00001
|
NM_004100.5(EYA4):c.557A>G (p.Gln186Arg)
|
rs767996783
|
0.00001
|
NM_004100.5(EYA4):c.601G>A (p.Ala201Thr)
|
rs765515937
|
0.00001
|
NM_004100.5(EYA4):c.668G>C (p.Ser223Thr)
|
rs1468256328
|
0.00001
|
NM_004100.5(EYA4):c.683C>T (p.Thr228Ile)
|
rs747533734
|
0.00001
|
NM_004100.5(EYA4):c.707A>G (p.Tyr236Cys)
|
rs1060502993
|
0.00001
|
NM_004100.5(EYA4):c.790A>G (p.Ser264Gly)
|
rs1392356186
|
0.00001
|
NM_004100.5(EYA4):c.89T>A (p.Met30Lys)
|
rs1554259054
|
0.00001
|
NM_004100.5(EYA4):c.901G>A (p.Asp301Asn)
|
rs779172192
|
0.00001
|
NM_004281.4(BAG3):c.1027C>T (p.Arg343Cys)
|
rs768613403
|
0.00001
|
NM_004281.4(BAG3):c.1035G>C (p.Glu345Asp)
|
rs1057522401
|
0.00001
|
NM_004281.4(BAG3):c.1118G>A (p.Cys373Tyr)
|
rs876657745
|
0.00001
|
NM_004281.4(BAG3):c.1217C>T (p.Thr406Ile)
|
rs727502900
|
0.00001
|
NM_004281.4(BAG3):c.1288G>A (p.Glu430Lys)
|
rs774713887
|
0.00001
|
NM_004281.4(BAG3):c.1429C>T (p.Arg477Cys)
|
rs775645671
|
0.00001
|
NM_004281.4(BAG3):c.1447G>A (p.Gly483Ser)
|
rs570294713
|
0.00001
|
NM_004281.4(BAG3):c.1582G>C (p.Gly528Arg)
|
rs752007619
|
0.00001
|
NM_004281.4(BAG3):c.1624G>T (p.Ala542Ser)
|
rs760485616
|
0.00001
|
NM_004281.4(BAG3):c.1628_1633del (p.Glu543_Pro545delinsAla)
|
rs1847251591
|
0.00001
|
NM_004281.4(BAG3):c.1651C>A (p.Gln551Lys)
|
rs577455773
|
0.00001
|
NM_004281.4(BAG3):c.1702A>G (p.Thr568Ala)
|
rs1407009048
|
0.00001
|
NM_004281.4(BAG3):c.307G>A (p.Ala103Thr)
|
rs774085716
|
0.00001
|
NM_004281.4(BAG3):c.315C>G (p.Asn105Lys)
|
rs566015884
|
0.00001
|
NM_004281.4(BAG3):c.325C>T (p.His109Tyr)
|
rs753302310
|
0.00001
|
NM_004281.4(BAG3):c.337G>A (p.Val113Ile)
|
rs781093275
|
0.00001
|
NM_004281.4(BAG3):c.362G>A (p.Arg121Gln)
|
rs876657746
|
0.00001
|
NM_004281.4(BAG3):c.368G>A (p.Arg123Gln)
|
rs199991063
|
0.00001
|
NM_004281.4(BAG3):c.418G>A (p.Gly140Ser)
|
rs780169403
|
0.00001
|
NM_004281.4(BAG3):c.452G>A (p.Cys151Tyr)
|
rs770678896
|
0.00001
|
NM_004281.4(BAG3):c.460G>C (p.Val154Leu)
|
rs376198104
|
0.00001
|
NM_004281.4(BAG3):c.46A>G (p.Asn16Asp)
|
rs1474784659
|
0.00001
|
NM_004281.4(BAG3):c.542C>T (p.Ser181Phe)
|
rs1482925321
|
0.00001
|
NM_004281.4(BAG3):c.557C>T (p.Ala186Val)
|
rs766766600
|
0.00001
|
NM_004281.4(BAG3):c.607C>T (p.Arg203Trp)
|
rs1047671466
|
0.00001
|
NM_004281.4(BAG3):c.67C>T (p.Pro23Ser)
|
rs747846089
|
0.00001
|
NM_004281.4(BAG3):c.836C>T (p.Ser279Leu)
|
rs751261054
|
0.00001
|
NM_004281.4(BAG3):c.844A>G (p.Arg282Gly)
|
rs1847167969
|
0.00001
|
NM_004281.4(BAG3):c.881G>A (p.Arg294His)
|
rs151335530
|
0.00001
|
NM_004281.4(BAG3):c.88A>G (p.Ile30Val)
|
rs766796091
|
0.00001
|
NM_004281.4(BAG3):c.909+4C>T
|
rs376351857
|
0.00001
|
NM_004281.4(BAG3):c.910-2A>C
|
rs762944997
|
0.00001
|
NM_004281.4(BAG3):c.947A>G (p.Gln316Arg)
|
rs1246603543
|
0.00001
|
NM_004281.4(BAG3):c.957C>G (p.Asn319Lys)
|
rs767223665
|
0.00001
|
NM_004333.6(BRAF):c.112G>C (p.Ala38Pro)
|
rs1011563467
|
0.00001
|
NM_004333.6(BRAF):c.229A>G (p.Ile77Val)
|
rs764408896
|
0.00001
|
NM_004333.6(BRAF):c.26G>C (p.Gly9Ala)
|
rs1211436028
|
0.00001
|
NM_004333.6(BRAF):c.58A>G (p.Asn20Asp)
|
rs1321934224
|
0.00001
|
NM_004387.4(NKX2-5):c.173G>T (p.Gly58Val)
|
rs1012750146
|
0.00001
|
NM_004387.4(NKX2-5):c.284G>T (p.Arg95Leu)
|
rs763729448
|
0.00001
|
NM_004387.4(NKX2-5):c.395G>C (p.Arg132Pro)
|
rs754394393
|
0.00001
|
NM_004387.4(NKX2-5):c.448G>A (p.Val150Ile)
|
rs201582515
|
0.00001
|
NM_004387.4(NKX2-5):c.466C>T (p.Arg156Cys)
|
rs1310163851
|
0.00001
|
NM_004387.4(NKX2-5):c.553T>C (p.Trp185Arg)
|
rs1761355968
|
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.695G>C (p.Gly232Ala)
|
rs759339072
|
0.00001
|
NM_004387.4(NKX2-5):c.842C>A (p.Ala281Glu)
|
rs1206339157
|
0.00001
|
NM_004387.4(NKX2-5):c.869A>G (p.Asn290Ser)
|
rs936204422
|
0.00001
|
NM_004387.4(NKX2-5):c.956A>G (p.His319Arg)
|
rs1196710127
|
0.00001
|
NM_004415.4(DSP):c.1012C>T (p.Leu338Phe)
|
rs774852168
|
0.00001
|
NM_004415.4(DSP):c.1016A>G (p.Asn339Ser)
|
rs746245682
|
0.00001
|
NM_004415.4(DSP):c.106G>A (p.Gly36Ser)
|
rs1395509692
|
0.00001
|
NM_004415.4(DSP):c.1102A>T (p.Ile368Phe)
|
rs794728112
|
0.00001
|
NM_004415.4(DSP):c.1136T>C (p.Phe379Ser)
|
rs1064795084
|
0.00001
|
NM_004415.4(DSP):c.117G>T (p.Arg39Ser)
|
rs748578019
|
0.00001
|
NM_004415.4(DSP):c.1274G>A (p.Arg425Gln)
|
rs397516916
|
0.00001
|
NM_004415.4(DSP):c.1323G>C (p.Lys441Asn)
|
rs1037212969
|
0.00001
|
NM_004415.4(DSP):c.136G>A (p.Gly46Ser)
|
rs371517189
|
0.00001
|
NM_004415.4(DSP):c.1468C>T (p.Arg490Cys)
|
rs781084693
|
0.00001
|
NM_004415.4(DSP):c.146C>G (p.Thr49Ser)
|
rs151153655
|
0.00001
|
NM_004415.4(DSP):c.1502T>C (p.Val501Ala)
|
rs544017143
|
0.00001
|
NM_004415.4(DSP):c.1564C>G (p.Leu522Val)
|
rs1230995902
|
0.00001
|
NM_004415.4(DSP):c.1568C>T (p.Ser523Phe)
|
rs1276338018
|
0.00001
|
NM_004415.4(DSP):c.1582C>G (p.Gln528Glu)
|
rs1267435790
|
0.00001
|
NM_004415.4(DSP):c.1671A>G (p.Ile557Met)
|
rs766505506
|
0.00001
|
NM_004415.4(DSP):c.171-4T>C
|
rs1554105598
|
0.00001
|
NM_004415.4(DSP):c.1715G>A (p.Arg572Gln)
|
rs370531666
|
0.00001
|
NM_004415.4(DSP):c.182C>T (p.Thr61Met)
|
rs200250096
|
0.00001
|
NM_004415.4(DSP):c.1901C>G (p.Thr634Arg)
|
rs139964486
|
0.00001
|
NM_004415.4(DSP):c.1973A>G (p.Asn658Ser)
|
rs749183448
|
0.00001
|
NM_004415.4(DSP):c.197A>T (p.Gln66Leu)
|
rs794728152
|
0.00001
|
NM_004415.4(DSP):c.2030G>A (p.Arg677Lys)
|
rs749238502
|
0.00001
|
NM_004415.4(DSP):c.2081C>T (p.Ala694Val)
|
rs543446763
|
0.00001
|
NM_004415.4(DSP):c.2194A>G (p.Asn732Asp)
|
rs746785505
|
0.00001
|
NM_004415.4(DSP):c.2246T>C (p.Leu749Pro)
|
rs935504136
|
0.00001
|
NM_004415.4(DSP):c.2260G>A (p.Glu754Lys)
|
rs730880080
|
0.00001
|
NM_004415.4(DSP):c.2377G>A (p.Glu793Lys)
|
rs755067397
|
0.00001
|
NM_004415.4(DSP):c.2415A>C (p.Glu805Asp)
|
rs1554107530
|
0.00001
|
NM_004415.4(DSP):c.249G>A (p.Met83Ile)
|
rs1426930663
|
0.00001
|
NM_004415.4(DSP):c.2550_2552dup (p.Leu851dup)
|
rs730880373
|
0.00001
|
NM_004415.4(DSP):c.2597G>A (p.Arg866His)
|
rs764965132
|
0.00001
|
NM_004415.4(DSP):c.2609T>C (p.Ile870Thr)
|
rs534413559
|
0.00001
|
NM_004415.4(DSP):c.2617C>G (p.Gln873Glu)
|
rs794728118
|
0.00001
|
NM_004415.4(DSP):c.2644G>A (p.Glu882Lys)
|
rs730880081
|
0.00001
|
NM_004415.4(DSP):c.2689G>C (p.Ala897Pro)
|
rs1008407158
|
0.00001
|
NM_004415.4(DSP):c.26C>A (p.Pro9Gln)
|
rs1303669220
|
0.00001
|
NM_004415.4(DSP):c.2728G>A (p.Asp910Asn)
|
rs775080138
|
0.00001
|
NM_004415.4(DSP):c.2822G>A (p.Arg941Gln)
|
rs759869347
|
0.00001
|
NM_004415.4(DSP):c.2850T>G (p.Ile950Met)
|
rs727502999
|
0.00001
|
NM_004415.4(DSP):c.2858T>C (p.Leu953Pro)
|
rs745641212
|
0.00001
|
NM_004415.4(DSP):c.2924T>C (p.Leu975Pro)
|
rs1473895931
|
0.00001
|
NM_004415.4(DSP):c.2933T>A (p.Ile978Lys)
|
rs1060500615
|
0.00001
|
NM_004415.4(DSP):c.2959T>A (p.Ser987Thr)
|
rs397516929
|
0.00001
|
NM_004415.4(DSP):c.2966C>T (p.Ser989Phe)
|
rs746346559
|
0.00001
|
NM_004415.4(DSP):c.2985G>A (p.Glu995=)
|
rs768858918
|
0.00001
|
NM_004415.4(DSP):c.3004C>T (p.Arg1002Trp)
|
rs772551736
|
0.00001
|
NM_004415.4(DSP):c.3025A>G (p.Arg1009Gly)
|
rs1413346143
|
0.00001
|
NM_004415.4(DSP):c.3059T>C (p.Met1020Thr)
|
rs773331618
|
0.00001
|
NM_004415.4(DSP):c.3084G>A (p.Lys1028=)
|
rs964949139
|
0.00001
|
NM_004415.4(DSP):c.314G>A (p.Arg105Gln)
|
rs762238621
|
0.00001
|
NM_004415.4(DSP):c.3277G>A (p.Ala1093Thr)
|
rs1185986064
|
0.00001
|
NM_004415.4(DSP):c.3323A>G (p.Asn1108Ser)
|
rs771948271
|
0.00001
|
NM_004415.4(DSP):c.3343A>G (p.Thr1115Ala)
|
rs761524542
|
0.00001
|
NM_004415.4(DSP):c.340G>A (p.Ala114Thr)
|
rs751745906
|
0.00001
|
NM_004415.4(DSP):c.3550C>T (p.Arg1184Trp)
|
rs761331634
|
0.00001
|
NM_004415.4(DSP):c.3605A>T (p.Glu1202Val)
|
rs374266534
|
0.00001
|
NM_004415.4(DSP):c.3644A>G (p.Asn1215Ser)
|
rs777375223
|
0.00001
|
NM_004415.4(DSP):c.364G>A (p.Asp122Asn)
|
rs756013600
|
0.00001
|
NM_004415.4(DSP):c.3740G>A (p.Arg1247Gln)
|
rs867067755
|
0.00001
|
NM_004415.4(DSP):c.3742G>A (p.Asp1248Asn)
|
rs989348634
|
0.00001
|
NM_004415.4(DSP):c.3757A>C (p.Ile1253Leu)
|
rs924651718
|
0.00001
|
NM_004415.4(DSP):c.3820G>A (p.Ala1274Thr)
|
rs1285435504
|
0.00001
|
NM_004415.4(DSP):c.385C>T (p.Arg129Trp)
|
rs777763456
|
0.00001
|
NM_004415.4(DSP):c.3905G>A (p.Arg1302His)
|
rs760691999
|
0.00001
|
NM_004415.4(DSP):c.3919G>A (p.Ala1307Thr)
|
rs367579811
|
0.00001
|
NM_004415.4(DSP):c.3968A>G (p.Lys1323Arg)
|
rs971198843
|
0.00001
|
NM_004415.4(DSP):c.3973A>C (p.Lys1325Gln)
|
rs41302883
|
0.00001
|
NM_004415.4(DSP):c.4021C>T (p.Arg1341Cys)
|
rs547568275
|
0.00001
|
NM_004415.4(DSP):c.4103C>T (p.Thr1368Ile)
|
rs530481219
|
0.00001
|
NM_004415.4(DSP):c.4274G>A (p.Arg1425Lys)
|
rs577560157
|
0.00001
|
NM_004415.4(DSP):c.4312T>C (p.Ser1438Pro)
|
rs1561698695
|
0.00001
|
NM_004415.4(DSP):c.431A>C (p.Gln144Pro)
|
rs768178768
|
0.00001
|
NM_004415.4(DSP):c.4405C>T (p.Leu1469Phe)
|
rs752121953
|
0.00001
|
NM_004415.4(DSP):c.4433A>G (p.Asp1478Gly)
|
rs767339003
|
0.00001
|
NM_004415.4(DSP):c.4513G>A (p.Ala1505Thr)
|
rs1488770025
|
0.00001
|
NM_004415.4(DSP):c.4666A>G (p.Ile1556Val)
|
rs530647574
|
0.00001
|
NM_004415.4(DSP):c.4735C>T (p.Arg1579Trp)
|
rs755868373
|
0.00001
|
NM_004415.4(DSP):c.4748C>G (p.Thr1583Ser)
|
rs778603023
|
0.00001
|
NM_004415.4(DSP):c.4754C>T (p.Ser1585Leu)
|
rs773622004
|
0.00001
|
NM_004415.4(DSP):c.4961T>C (p.Leu1654Pro)
|
rs749730642
|
0.00001
|
NM_004415.4(DSP):c.5062G>A (p.Ala1688Thr)
|
rs757753880
|
0.00001
|
NM_004415.4(DSP):c.50T>G (p.Met17Arg)
|
rs559248100
|
0.00001
|
NM_004415.4(DSP):c.5120A>T (p.Gln1707Leu)
|
rs768870428
|
0.00001
|
NM_004415.4(DSP):c.5153T>C (p.Leu1718Ser)
|
rs1278859783
|
0.00001
|
NM_004415.4(DSP):c.5261G>A (p.Ser1754Asn)
|
rs763526083
|
0.00001
|
NM_004415.4(DSP):c.5572C>G (p.Gln1858Glu)
|
rs1474132784
|
0.00001
|
NM_004415.4(DSP):c.5611T>G (p.Tyr1871Asp)
|
rs374844169
|
0.00001
|
NM_004415.4(DSP):c.5618G>A (p.Arg1873His)
|
rs776088292
|
0.00001
|
NM_004415.4(DSP):c.5647T>C (p.Ser1883Pro)
|
rs1056652234
|
0.00001
|
NM_004415.4(DSP):c.5656G>C (p.Glu1886Gln)
|
rs776728790
|
0.00001
|
NM_004415.4(DSP):c.5779C>G (p.Gln1927Glu)
|
rs794728104
|
0.00001
|
NM_004415.4(DSP):c.5794C>T (p.Arg1932Cys)
|
rs748825632
|
0.00001
|
NM_004415.4(DSP):c.582G>T (p.Trp194Cys)
|
rs1345570966
|
0.00001
|
NM_004415.4(DSP):c.5834G>A (p.Arg1945His)
|
rs759516161
|
0.00001
|
NM_004415.4(DSP):c.5881G>A (p.Val1961Ile)
|
rs368869076
|
0.00001
|
NM_004415.4(DSP):c.5912T>C (p.Leu1971Pro)
|
rs397516950
|
0.00001
|
NM_004415.4(DSP):c.5984T>C (p.Leu1995Ser)
|
rs794728128
|
0.00001
|
NM_004415.4(DSP):c.599C>T (p.Ala200Val)
|
rs1337095425
|
0.00001
|
NM_004415.4(DSP):c.6014C>T (p.Ala2005Val)
|
rs749925817
|
0.00001
|
NM_004415.4(DSP):c.6038G>A (p.Arg2013Gln)
|
rs557263443
|
0.00001
|
NM_004415.4(DSP):c.6112A>C (p.Lys2038Gln)
|
rs185846631
|
0.00001
|
NM_004415.4(DSP):c.6141G>C (p.Met2047Ile)
|
rs374226658
|
0.00001
|
NM_004415.4(DSP):c.61G>A (p.Glu21Lys)
|
rs747956457
|
0.00001
|
NM_004415.4(DSP):c.6233T>C (p.Ile2078Thr)
|
rs377035113
|
0.00001
|
NM_004415.4(DSP):c.6332T>C (p.Ile2111Thr)
|
rs370865499
|
0.00001
|
NM_004415.4(DSP):c.6346A>G (p.Ile2116Val)
|
rs777184414
|
0.00001
|
NM_004415.4(DSP):c.6367C>T (p.Arg2123Cys)
|
rs372242085
|
0.00001
|
NM_004415.4(DSP):c.6415A>G (p.Asn2139Asp)
|
rs762434061
|
0.00001
|
NM_004415.4(DSP):c.6455G>T (p.Gly2152Val)
|
rs1040120840
|
0.00001
|
NM_004415.4(DSP):c.6587C>T (p.Thr2196Ile)
|
rs958098310
|
0.00001
|
NM_004415.4(DSP):c.6592C>G (p.Leu2198Val)
|
rs752057967
|
0.00001
|
NM_004415.4(DSP):c.6689C>T (p.Pro2230Leu)
|
rs759982048
|
0.00001
|
NM_004415.4(DSP):c.677A>G (p.Asn226Ser)
|
rs921332894
|
0.00001
|
NM_004415.4(DSP):c.6902T>C (p.Ile2301Thr)
|
rs772381363
|
0.00001
|
NM_004415.4(DSP):c.692A>G (p.Tyr231Cys)
|
rs770210088
|
0.00001
|
NM_004415.4(DSP):c.6968T>C (p.Ile2323Thr)
|
rs777901747
|
0.00001
|
NM_004415.4(DSP):c.7396G>A (p.Val2466Met)
|
rs745862520
|
0.00001
|
NM_004415.4(DSP):c.7433C>T (p.Ser2478Phe)
|
rs1759570987
|
0.00001
|
NM_004415.4(DSP):c.7451A>G (p.Lys2484Arg)
|
rs1346398330
|
0.00001
|
NM_004415.4(DSP):c.7465G>A (p.Asp2489Asn)
|
rs760552749
|
0.00001
|
NM_004415.4(DSP):c.7534G>T (p.Asp2512Tyr)
|
rs772574987
|
0.00001
|
NM_004415.4(DSP):c.7702G>A (p.Gly2568Ser)
|
rs139486943
|
0.00001
|
NM_004415.4(DSP):c.7745T>G (p.Phe2582Cys)
|
rs751712837
|
0.00001
|
NM_004415.4(DSP):c.7778T>G (p.Ile2593Ser)
|
rs563272509
|
0.00001
|
NM_004415.4(DSP):c.7847C>T (p.Ser2616Leu)
|
rs571577908
|
0.00001
|
NM_004415.4(DSP):c.7855A>G (p.Ile2619Val)
|
rs767630308
|
0.00001
|
NM_004415.4(DSP):c.7876G>C (p.Glu2626Gln)
|
rs144821643
|
0.00001
|
NM_004415.4(DSP):c.7918G>T (p.Gly2640Cys)
|
rs770390645
|
0.00001
|
NM_004415.4(DSP):c.794G>A (p.Arg265Lys)
|
rs1064796438
|
0.00001
|
NM_004415.4(DSP):c.7990A>G (p.Thr2664Ala)
|
rs1260154229
|
0.00001
|
NM_004415.4(DSP):c.7994C>T (p.Thr2665Met)
|
rs151309106
|
0.00001
|
NM_004415.4(DSP):c.8014C>G (p.Gln2672Glu)
|
rs1064793890
|
0.00001
|
NM_004415.4(DSP):c.8015A>C (p.Gln2672Pro)
|
rs1060500612
|
0.00001
|
NM_004415.4(DSP):c.8050A>G (p.Met2684Val)
|
rs147801650
|
0.00001
|
NM_004415.4(DSP):c.809G>A (p.Arg270Gln)
|
rs1203795810
|
0.00001
|
NM_004415.4(DSP):c.8123C>T (p.Ser2708Leu)
|
rs1194266904
|
0.00001
|
NM_004415.4(DSP):c.8133G>T (p.Glu2711Asp)
|
rs375348086
|
0.00001
|
NM_004415.4(DSP):c.8137G>A (p.Val2713Met)
|
rs1219478425
|
0.00001
|
NM_004415.4(DSP):c.8152C>A (p.Leu2718Ile)
|
rs727504569
|
0.00001
|
NM_004415.4(DSP):c.8197A>T (p.Thr2733Ser)
|
rs1157650702
|
0.00001
|
NM_004415.4(DSP):c.8216C>T (p.Pro2739Leu)
|
rs761527198
|
0.00001
|
NM_004415.4(DSP):c.8278G>A (p.Ala2760Thr)
|
rs991726607
|
0.00001
|
NM_004415.4(DSP):c.8309A>G (p.Tyr2770Cys)
|
rs371020228
|
0.00001
|
NM_004415.4(DSP):c.8330C>A (p.Pro2777His)
|
rs376273136
|
0.00001
|
NM_004415.4(DSP):c.8372G>A (p.Arg2791His)
|
rs749339594
|
0.00001
|
NM_004415.4(DSP):c.8390T>C (p.Ile2797Thr)
|
rs769734918
|
0.00001
|
NM_004415.4(DSP):c.8404C>T (p.Leu2802Phe)
|
rs201271117
|
0.00001
|
NM_004415.4(DSP):c.8476C>T (p.Arg2826Cys)
|
rs139969658
|
0.00001
|
NM_004415.4(DSP):c.8477G>A (p.Arg2826His)
|
rs548754771
|
0.00001
|
NM_004415.4(DSP):c.946A>G (p.Met316Val)
|
rs201672777
|
0.00001
|
NM_004415.4(DSP):c.965A>G (p.Lys322Arg)
|
rs757098196
|
0.00001
|
NM_004588.5(SCN2B):c.237G>C (p.Met79Ile)
|
rs142643516
|
0.00001
|
NM_004588.5(SCN2B):c.251G>A (p.Arg84His)
|
rs201460753
|
0.00001
|
NM_004982.4(KCNJ8):c.1054C>T (p.Arg352Trp)
|
rs556299317
|
0.00001
|
NM_004982.4(KCNJ8):c.1145A>G (p.Lys382Arg)
|
rs752063865
|
0.00001
|
NM_004982.4(KCNJ8):c.1166A>G (p.Asn389Ser)
|
rs368674776
|
0.00001
|
NM_004982.4(KCNJ8):c.352A>G (p.Thr118Ala)
|
rs761526890
|
0.00001
|
NM_004982.4(KCNJ8):c.676C>T (p.Arg226Cys)
|
rs763650307
|
0.00001
|
NM_004982.4(KCNJ8):c.6G>T (p.Leu2Phe)
|
rs886038917
|
0.00001
|
NM_005120.3(MED12):c.701A>T (p.Asp234Val)
|
rs927746681
|
0.00001
|
NM_005159.5(ACTC1):c.1085A>C (p.Gln362Pro)
|
rs375435815
|
0.00001
|
NM_005159.5(ACTC1):c.129G>A (p.Gln43=)
|
rs878854753
|
0.00001
|
NM_005159.5(ACTC1):c.622C>T (p.Arg208Cys)
|
rs727505179
|
0.00001
|
NM_005159.5(ACTC1):c.886T>C (p.Tyr296His)
|
rs730880402
|
0.00001
|
NM_005188.4(CBL):c.1849C>T (p.Arg617Trp)
|
rs538013681
|
0.00001
|
NM_005188.4(CBL):c.2012A>G (p.Asn671Ser)
|
rs760168148
|
0.00001
|
NM_005188.4(CBL):c.203G>A (p.Arg68Gln)
|
rs901321242
|
0.00001
|
NM_005188.4(CBL):c.2053A>G (p.Lys685Glu)
|
rs1555027603
|
0.00001
|
NM_005188.4(CBL):c.2062C>T (p.Pro688Ser)
|
rs730880428
|
0.00001
|
NM_005188.4(CBL):c.2086G>A (p.Glu696Lys)
|
rs539217274
|
0.00001
|
NM_005188.4(CBL):c.23G>A (p.Ser8Asn)
|
rs930860175
|
0.00001
|
NM_005188.4(CBL):c.2432C>T (p.Thr811Ile)
|
rs749068285
|
0.00001
|
NM_005188.4(CBL):c.469A>G (p.Ile157Val)
|
rs730880430
|
0.00001
|
NM_005343.4(HRAS):c.398T>A (p.Leu133His)
|
rs766801436
|
0.00001
|
NM_005343.4(HRAS):c.410A>C (p.Tyr137Ser)
|
rs1180561549
|
0.00001
|
NM_005472.5(KCNE3):c.194T>C (p.Met65Thr)
|
rs1485350191
|
0.00001
|
NM_005477.3(HCN4):c.1073T>C (p.Ile358Thr)
|
rs774060688
|
0.00001
|
NM_005477.3(HCN4):c.1132C>T (p.Arg378Cys)
|
rs758468167
|
0.00001
|
NM_005477.3(HCN4):c.124G>C (p.Asp42His)
|
rs752597565
|
0.00001
|
NM_005477.3(HCN4):c.128C>T (p.Pro43Leu)
|
rs759329385
|
0.00001
|
NM_005477.3(HCN4):c.1297G>A (p.Gly433Ser)
|
rs573588965
|
0.00001
|
NM_005477.3(HCN4):c.1331A>T (p.Asp444Val)
|
rs1444329166
|
0.00001
|
NM_005477.3(HCN4):c.1402G>A (p.Ala468Thr)
|
rs372632530
|
0.00001
|
NM_005477.3(HCN4):c.1403C>T (p.Ala468Val)
|
rs760413254
|
0.00001
|
NM_005477.3(HCN4):c.1447C>T (p.Arg483Trp)
|
rs1304145729
|
0.00001
|
NM_005477.3(HCN4):c.152G>A (p.Arg51Gln)
|
rs1425211418
|
0.00001
|
NM_005477.3(HCN4):c.1576C>G (p.Gln526Glu)
|
rs1474216387
|
0.00001
|
NM_005477.3(HCN4):c.1661A>G (p.Tyr554Cys)
|
rs767926374
|
0.00001
|
NM_005477.3(HCN4):c.1693G>A (p.Asp565Asn)
|
rs201811340
|
0.00001
|
NM_005477.3(HCN4):c.1748A>G (p.Asn583Ser)
|
rs1204195890
|
0.00001
|
NM_005477.3(HCN4):c.1760G>A (p.Arg587Gln)
|
rs761600737
|
0.00001
|
NM_005477.3(HCN4):c.1896G>A (p.Met632Ile)
|
rs200737571
|
0.00001
|
NM_005477.3(HCN4):c.202C>G (p.Arg68Gly)
|
rs962306052
|
0.00001
|
NM_005477.3(HCN4):c.2092A>G (p.Met698Val)
|
rs1181444062
|
0.00001
|
NM_005477.3(HCN4):c.2182G>A (p.Asp728Asn)
|
rs200468312
|
0.00001
|
NM_005477.3(HCN4):c.2198T>C (p.Val733Ala)
|
rs1482088586
|
0.00001
|
NM_005477.3(HCN4):c.2267C>T (p.Ala756Val)
|
rs745617328
|
0.00001
|
NM_005477.3(HCN4):c.2273G>A (p.Arg758His)
|
rs373284500
|
0.00001
|
NM_005477.3(HCN4):c.2326C>A (p.Pro776Thr)
|
rs148714049
|
0.00001
|
NM_005477.3(HCN4):c.2327C>T (p.Pro776Leu)
|
rs1008825259
|
0.00001
|
NM_005477.3(HCN4):c.2356G>A (p.Ala786Thr)
|
rs771516987
|
0.00001
|
NM_005477.3(HCN4):c.2452G>A (p.Gly818Ser)
|
rs1427767002
|
0.00001
|
NM_005477.3(HCN4):c.245G>A (p.Arg82His)
|
rs1170776732
|
0.00001
|
NM_005477.3(HCN4):c.2495T>C (p.Leu832Pro)
|
rs1404692878
|
0.00001
|
NM_005477.3(HCN4):c.2716G>A (p.Gly906Arg)
|
rs373572497
|
0.00001
|
NM_005477.3(HCN4):c.2738C>T (p.Ala913Val)
|
rs777560053
|
0.00001
|
NM_005477.3(HCN4):c.2786T>C (p.Leu929Pro)
|
rs753331607
|
0.00001
|
NM_005477.3(HCN4):c.2828C>A (p.Pro943His)
|
rs1455977664
|
0.00001
|
NM_005477.3(HCN4):c.2939G>C (p.Gly980Ala)
|
rs367719274
|
0.00001
|
NM_005477.3(HCN4):c.3011C>T (p.Pro1004Leu)
|
rs1486893598
|
0.00001
|
NM_005477.3(HCN4):c.3028G>T (p.Ala1010Ser)
|
rs748634893
|
0.00001
|
NM_005477.3(HCN4):c.3031T>C (p.Ser1011Pro)
|
rs890395300
|
0.00001
|
NM_005477.3(HCN4):c.3044C>G (p.Ser1015Cys)
|
rs750605160
|
0.00001
|
NM_005477.3(HCN4):c.3071G>T (p.Gly1024Val)
|
rs775491475
|
0.00001
|
NM_005477.3(HCN4):c.3166C>A (p.Pro1056Thr)
|
rs1022382647
|
0.00001
|
NM_005477.3(HCN4):c.3169_3189dup (p.Ala1057_Pro1063dup)
|
rs1486632648
|
0.00001
|
NM_005477.3(HCN4):c.3172T>G (p.Ser1058Ala)
|
rs1064796786
|
0.00001
|
NM_005477.3(HCN4):c.3205C>T (p.Arg1069Trp)
|
rs770658894
|
0.00001
|
NM_005477.3(HCN4):c.3206G>A (p.Arg1069Gln)
|
rs760242560
|
0.00001
|
NM_005477.3(HCN4):c.3289G>A (p.Gly1097Arg)
|
rs753734843
|
0.00001
|
NM_005477.3(HCN4):c.3304C>T (p.Arg1102Cys)
|
rs760392343
|
0.00001
|
NM_005477.3(HCN4):c.331G>A (p.Gly111Ser)
|
rs758437800
|
0.00001
|
NM_005477.3(HCN4):c.3363G>C (p.Arg1121Ser)
|
rs794727919
|
0.00001
|
NM_005477.3(HCN4):c.3382G>A (p.Gly1128Ser)
|
rs779132775
|
0.00001
|
NM_005477.3(HCN4):c.3412C>G (p.Pro1138Ala)
|
rs915209025
|
0.00001
|
NM_005477.3(HCN4):c.3487C>A (p.Pro1163Thr)
|
rs779811451
|
0.00001
|
NM_005477.3(HCN4):c.3526G>C (p.Gly1176Arg)
|
rs1060500104
|
0.00001
|
NM_005477.3(HCN4):c.433C>G (p.Pro145Ala)
|
rs886043525
|
0.00001
|
NM_005477.3(HCN4):c.550G>A (p.Val184Met)
|
rs1450435726
|
0.00001
|
NM_005477.3(HCN4):c.595C>A (p.Gln199Lys)
|
rs1055534495
|
0.00001
|
NM_005477.3(HCN4):c.697A>T (p.Met233Leu)
|
rs749389306
|
0.00001
|
NM_005477.3(HCN4):c.6C>G (p.Asp2Glu)
|
rs1230881569
|
0.00001
|
NM_005477.3(HCN4):c.743A>G (p.Lys248Arg)
|
rs191744064
|
0.00001
|
NM_005477.3(HCN4):c.915C>A (p.Phe305Leu)
|
rs1272107414
|
0.00001
|
NM_005477.3(HCN4):c.91G>A (p.Asp31Asn)
|
rs757500423
|
0.00001
|
NM_005477.3(HCN4):c.975G>T (p.Glu325Asp)
|
rs778657724
|
0.00001
|
NM_005477.3(HCN4):c.988C>A (p.Pro330Thr)
|
rs1555477316
|
0.00001
|
NM_005477.3(HCN4):c.989C>T (p.Pro330Leu)
|
rs370442588
|
0.00001
|
NM_005477.3(HCN4):c.994C>T (p.Arg332Trp)
|
rs141185786
|
0.00001
|
NM_005502.4(ABCA1):c.2301G>T (p.Trp767Cys)
|
rs780611537
|
0.00001
|
NM_005502.4(ABCA1):c.4102G>A (p.Val1368Met)
|
rs778275370
|
0.00001
|
NM_005633.4(SOS1):c.1202+3G>A
|
rs904487658
|
0.00001
|
NM_005633.4(SOS1):c.1271A>G (p.Glu424Gly)
|
rs730881042
|
0.00001
|
NM_005633.4(SOS1):c.127G>C (p.Asp43His)
|
rs730881052
|
0.00001
|
NM_005633.4(SOS1):c.1303A>G (p.Lys435Glu)
|
rs138920742
|
0.00001
|
NM_005633.4(SOS1):c.1385T>A (p.Phe462Tyr)
|
rs730881043
|
0.00001
|
NM_005633.4(SOS1):c.143T>C (p.Val48Ala)
|
rs373898570
|
0.00001
|
NM_005633.4(SOS1):c.1574T>C (p.Ile525Thr)
|
rs146722878
|
0.00001
|
NM_005633.4(SOS1):c.1627T>C (p.Ser543Pro)
|
rs981234810
|
0.00001
|
NM_005633.4(SOS1):c.1983A>G (p.Ile661Met)
|
rs747203627
|
0.00001
|
NM_005633.4(SOS1):c.2089G>T (p.Val697Leu)
|
rs966388444
|
0.00001
|
NM_005633.4(SOS1):c.2097C>A (p.His699Gln)
|
rs765074047
|
0.00001
|
NM_005633.4(SOS1):c.2158A>G (p.Thr720Ala)
|
rs367634525
|
0.00001
|
NM_005633.4(SOS1):c.2227G>C (p.Ala743Pro)
|
rs759584440
|
0.00001
|
NM_005633.4(SOS1):c.2684G>A (p.Ser895Asn)
|
rs1164976822
|
0.00001
|
NM_005633.4(SOS1):c.2728G>C (p.Asp910His)
|
rs369277679
|
0.00001
|
NM_005633.4(SOS1):c.2999G>A (p.Ser1000Asn)
|
rs891035934
|
0.00001
|
NM_005633.4(SOS1):c.3274G>A (p.Ala1092Thr)
|
rs373948887
|
0.00001
|
NM_005633.4(SOS1):c.3391+3T>C
|
rs761579423
|
0.00001
|
NM_005633.4(SOS1):c.350T>G (p.Val117Gly)
|
rs201085754
|
0.00001
|
NM_005633.4(SOS1):c.3524A>C (p.His1175Pro)
|
rs730881035
|
0.00001
|
NM_005633.4(SOS1):c.3602G>A (p.Arg1201Gln)
|
rs1422169849
|
0.00001
|
NM_005633.4(SOS1):c.3721A>G (p.Lys1241Glu)
|
rs367693130
|
0.00001
|
NM_005633.4(SOS1):c.464A>G (p.Tyr155Cys)
|
rs1188280924
|
0.00001
|
NM_005633.4(SOS1):c.473C>T (p.Thr158Ile)
|
rs776744951
|
0.00001
|
NM_005633.4(SOS1):c.560C>A (p.Ser187Tyr)
|
rs730881038
|
0.00001
|
NM_005633.4(SOS1):c.688T>G (p.Phe230Val)
|
rs397517177
|
0.00001
|
NM_005633.4(SOS1):c.864+3A>G
|
rs201119821
|
0.00001
|
NM_005633.4(SOS1):c.865-4T>C
|
rs750788947
|
0.00001
|
NM_005633.4(SOS1):c.928C>T (p.Arg310Cys)
|
rs867539471
|
0.00001
|
NM_005633.4(SOS1):c.985G>A (p.Glu329Lys)
|
rs756679265
|
0.00001
|
NM_005751.5(AKAP9):c.10315A>G (p.Ile3439Val)
|
rs1040204302
|
0.00001
|
NM_005751.5(AKAP9):c.10332G>T (p.Gln3444His)
|
rs981017281
|
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.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.11272C>T (p.Arg3758Cys)
|
rs779901993
|
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.11342T>C (p.Leu3781Ser)
|
rs779122050
|
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.1183A>G (p.Lys395Glu)
|
rs886062467
|
0.00001
|
NM_005751.5(AKAP9):c.1457A>T (p.Asp486Val)
|
rs748637545
|
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.1984C>T (p.His662Tyr)
|
rs749315335
|
0.00001
|
NM_005751.5(AKAP9):c.217G>T (p.Val73Leu)
|
rs887210886
|
0.00001
|
NM_005751.5(AKAP9):c.2312C>A (p.Ala771Glu)
|
rs1259922164
|
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.2578A>G (p.Asn860Asp)
|
rs754943177
|
0.00001
|
NM_005751.5(AKAP9):c.257C>G (p.Thr86Ser)
|
rs768859701
|
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.3349C>T (p.Arg1117Cys)
|
rs1277410775
|
0.00001
|
NM_005751.5(AKAP9):c.3544A>G (p.Lys1182Glu)
|
rs1801192661
|
0.00001
|
NM_005751.5(AKAP9):c.3955G>A (p.Val1319Ile)
|
rs1351358009
|
0.00001
|
NM_005751.5(AKAP9):c.4142C>T (p.Pro1381Leu)
|
rs148726562
|
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.4396G>A (p.Gly1466Arg)
|
rs376262014
|
0.00001
|
NM_005751.5(AKAP9):c.4628A>T (p.Asp1543Val)
|
rs1554426900
|
0.00001
|
NM_005751.5(AKAP9):c.4765G>A (p.Asp1589Asn)
|
rs371957004
|
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.4945G>A (p.Val1649Ile)
|
rs756966573
|
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.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.5449G>A (p.Glu1817Lys)
|
rs575158854
|
0.00001
|
NM_005751.5(AKAP9):c.5467C>G (p.Gln1823Glu)
|
rs1376036983
|
0.00001
|
NM_005751.5(AKAP9):c.5505A>G (p.Ile1835Met)
|
rs1057521238
|
0.00001
|
NM_005751.5(AKAP9):c.5636T>C (p.Met1879Thr)
|
rs776979647
|
0.00001
|
NM_005751.5(AKAP9):c.5771T>C (p.Ile1924Thr)
|
rs1217996637
|
0.00001
|
NM_005751.5(AKAP9):c.5825C>A (p.Thr1942Asn)
|
rs768512576
|
0.00001
|
NM_005751.5(AKAP9):c.5830A>G (p.Ile1944Val)
|
rs587780849
|
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.5911G>A (p.Glu1971Lys)
|
rs886038914
|
0.00001
|
NM_005751.5(AKAP9):c.5933G>T (p.Arg1978Ile)
|
rs1274983523
|
0.00001
|
NM_005751.5(AKAP9):c.6113T>C (p.Ile2038Thr)
|
rs776217591
|
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.6536T>C (p.Val2179Ala)
|
rs1060503580
|
0.00001
|
NM_005751.5(AKAP9):c.6895G>C (p.Glu2299Gln)
|
rs1198428381
|
0.00001
|
NM_005751.5(AKAP9):c.7555T>C (p.Tyr2519His)
|
rs752977579
|
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.7915A>G (p.Lys2639Glu)
|
rs1426533488
|
0.00001
|
NM_005751.5(AKAP9):c.7933G>C (p.Glu2645Gln)
|
rs1407994937
|
0.00001
|
NM_005751.5(AKAP9):c.8019+5G>C
|
rs779652992
|
0.00001
|
NM_005751.5(AKAP9):c.8020-5T>C
|
rs375175124
|
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.8495A>G (p.Gln2832Arg)
|
rs775741227
|
0.00001
|
NM_005751.5(AKAP9):c.9053G>A (p.Ser3018Asn)
|
rs1372778218
|
0.00001
|
NM_005751.5(AKAP9):c.9173T>C (p.Val3058Ala)
|
rs1214206783
|
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.9468T>G (p.Ser3156=)
|
rs759583976
|
0.00001
|
NM_005751.5(AKAP9):c.9710G>A (p.Arg3237Gln)
|
rs757123477
|
0.00001
|
NM_005751.5(AKAP9):c.9793C>G (p.Gln3265Glu)
|
rs758717247
|
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_005911.6(MAT2A):c.1049A>T (p.Lys350Met)
|
rs371262419
|
0.00001
|
NM_005911.6(MAT2A):c.952-3T>C
|
rs367778290
|
0.00001
|
NM_006073.4(TRDN):c.1018G>A (p.Glu340Lys)
|
rs778821180
|
0.00001
|
NM_006073.4(TRDN):c.1130A>G (p.Lys377Arg)
|
rs750876367
|
0.00001
|
NM_006073.4(TRDN):c.1249C>G (p.Pro417Ala)
|
rs773700571
|
0.00001
|
NM_006073.4(TRDN):c.1273+4T>C
|
rs1261345499
|
0.00001
|
NM_006073.4(TRDN):c.1501T>A (p.Ser501Thr)
|
rs370559465
|
0.00001
|
NM_006073.4(TRDN):c.1569G>T (p.Glu523Asp)
|
rs1395279008
|
0.00001
|
NM_006073.4(TRDN):c.1622A>G (p.His541Arg)
|
rs919195476
|
0.00001
|
NM_006073.4(TRDN):c.1624+3A>G
|
rs917121544
|
0.00001
|
NM_006073.4(TRDN):c.176C>T (p.Thr59Met)
|
rs397515459
|
0.00001
|
NM_006073.4(TRDN):c.1879G>C (p.Asp627His)
|
rs997711349
|
0.00001
|
NM_006073.4(TRDN):c.1954G>A (p.Glu652Lys)
|
rs1194412303
|
0.00001
|
NM_006073.4(TRDN):c.1976-3T>C
|
rs934486291
|
0.00001
|
NM_006073.4(TRDN):c.2027A>G (p.Asp676Gly)
|
rs1775147117
|
0.00001
|
NM_006073.4(TRDN):c.2074G>A (p.Val692Ile)
|
rs1208049678
|
0.00001
|
NM_006073.4(TRDN):c.2176C>T (p.Gln726Ter)
|
rs1414689230
|
0.00001
|
NM_006073.4(TRDN):c.22+4T>C
|
rs757565507
|
0.00001
|
NM_006073.4(TRDN):c.284C>T (p.Ala95Val)
|
rs764770921
|
0.00001
|
NM_006073.4(TRDN):c.311A>G (p.Tyr104Cys)
|
rs1345111830
|
0.00001
|
NM_006073.4(TRDN):c.335A>T (p.Asp112Val)
|
rs772376488
|
0.00001
|
NM_006073.4(TRDN):c.482A>C (p.Lys161Thr)
|
rs886039003
|
0.00001
|
NM_006073.4(TRDN):c.482A>G (p.Lys161Arg)
|
rs886039003
|
0.00001
|
NM_006073.4(TRDN):c.558C>A (p.His186Gln)
|
rs1173699706
|
0.00001
|
NM_006073.4(TRDN):c.652A>C (p.Thr218Pro)
|
rs1778805040
|
0.00001
|
NM_006073.4(TRDN):c.665T>G (p.Val222Gly)
|
rs758037868
|
0.00001
|
NM_006073.4(TRDN):c.754G>T (p.Asp252Tyr)
|
rs749401047
|
0.00001
|
NM_006073.4(TRDN):c.811C>T (p.Arg271Ter)
|
rs1201954479
|
0.00001
|
NM_006073.4(TRDN):c.812G>A (p.Arg271Gln)
|
rs772783444
|
0.00001
|
NM_006073.4(TRDN):c.826A>G (p.Ile276Val)
|
rs150412658
|
0.00001
|
NM_006073.4(TRDN):c.851C>G (p.Pro284Arg)
|
rs755534468
|
0.00001
|
NM_006073.4(TRDN):c.902G>A (p.Arg301Lys)
|
rs780453421
|
0.00001
|
NM_006073.4(TRDN):c.949A>G (p.Lys317Glu)
|
rs138624936
|
0.00001
|
NM_006073.4(TRDN):c.991+3A>G
|
rs961504074
|
0.00001
|
NM_006393.3(NEBL):c.901G>A (p.Gly301Ser)
|
rs773469997
|
0.00001
|
NM_006440.5(TXNRD2):c.1086+4C>T
|
rs753380240
|
0.00001
|
NM_006440.5(TXNRD2):c.1087-2A>G
|
rs1289412583
|
0.00001
|
NM_006440.5(TXNRD2):c.1169T>G (p.Met390Arg)
|
rs758236709
|
0.00001
|
NM_006440.5(TXNRD2):c.1234G>A (p.Glu412Lys)
|
rs781432469
|
0.00001
|
NM_006440.5(TXNRD2):c.1289A>C (p.His430Pro)
|
rs376463546
|
0.00001
|
NM_006440.5(TXNRD2):c.1331C>G (p.Ser444Cys)
|
rs749643976
|
0.00001
|
NM_006440.5(TXNRD2):c.1412G>A (p.Gly471Asp)
|
rs754916024
|
0.00001
|
NM_006440.5(TXNRD2):c.1414G>A (p.Glu472Lys)
|
rs766076027
|
0.00001
|
NM_006440.5(TXNRD2):c.1460A>G (p.Tyr487Cys)
|
rs367711380
|
0.00001
|
NM_006440.5(TXNRD2):c.156G>A (p.Leu52=)
|
rs939642675
|
0.00001
|
NM_006440.5(TXNRD2):c.172+3A>G
|
rs923193498
|
0.00001
|
NM_006440.5(TXNRD2):c.224C>T (p.Pro75Leu)
|
rs888739263
|
0.00001
|
NM_006440.5(TXNRD2):c.238T>C (p.Trp80Arg)
|
rs762714876
|
0.00001
|
NM_006440.5(TXNRD2):c.338A>G (p.Tyr113Cys)
|
rs905391308
|
0.00001
|
NM_006440.5(TXNRD2):c.449G>A (p.Arg150Lys)
|
rs755356370
|
0.00001
|
NM_006440.5(TXNRD2):c.450-1G>A
|
rs755703700
|
0.00001
|
NM_006440.5(TXNRD2):c.46C>T (p.Arg16Trp)
|
rs777650793
|
0.00001
|
NM_006440.5(TXNRD2):c.497C>T (p.Thr166Met)
|
rs553337931
|
0.00001
|
NM_006440.5(TXNRD2):c.508G>A (p.Val170Ile)
|
rs574389555
|
0.00001
|
NM_006440.5(TXNRD2):c.529A>G (p.Ile177Val)
|
rs373970291
|
0.00001
|
NM_006440.5(TXNRD2):c.627T>G (p.Asp209Glu)
|
rs376336621
|
0.00001
|
NM_006440.5(TXNRD2):c.715G>A (p.Gly239Arg)
|
rs978493213
|
0.00001
|
NM_006440.5(TXNRD2):c.720T>G (p.Ile240Met)
|
rs1246351128
|
0.00001
|
NM_006440.5(TXNRD2):c.904G>A (p.Gly302Ser)
|
rs781228620
|
0.00001
|
NM_006514.4(SCN10A):c.1078C>T (p.Arg360Cys)
|
rs773808340
|
0.00001
|
NM_006514.4(SCN10A):c.1418A>T (p.Asp473Val)
|
rs774806601
|
0.00001
|
NM_006514.4(SCN10A):c.1469T>C (p.Leu490Pro)
|
rs745630620
|
0.00001
|
NM_006514.4(SCN10A):c.149A>C (p.Lys50Thr)
|
rs757655001
|
0.00001
|
NM_006514.4(SCN10A):c.1523G>A (p.Arg508Gln)
|
rs368776882
|
0.00001
|
NM_006514.4(SCN10A):c.1591G>A (p.Glu531Lys)
|
rs866716316
|
0.00001
|
NM_006514.4(SCN10A):c.1730T>A (p.Leu577His)
|
rs1060501716
|
0.00001
|
NM_006514.4(SCN10A):c.2064C>T (p.Gly688=)
|
rs758224718
|
0.00001
|
NM_006514.4(SCN10A):c.2099G>A (p.Gly700Asp)
|
rs1250669621
|
0.00001
|
NM_006514.4(SCN10A):c.2158G>A (p.Asp720Asn)
|
rs781354273
|
0.00001
|
NM_006514.4(SCN10A):c.2222T>G (p.Leu741Arg)
|
rs201342036
|
0.00001
|
NM_006514.4(SCN10A):c.2305T>C (p.Ser769Pro)
|
rs1330358186
|
0.00001
|
NM_006514.4(SCN10A):c.2458A>G (p.Ile820Val)
|
rs770101312
|
0.00001
|
NM_006514.4(SCN10A):c.2486G>A (p.Arg829His)
|
rs752623537
|
0.00001
|
NM_006514.4(SCN10A):c.2527T>C (p.Phe843Leu)
|
rs768541787
|
0.00001
|
NM_006514.4(SCN10A):c.2540G>A (p.Cys847Tyr)
|
rs772757323
|
0.00001
|
NM_006514.4(SCN10A):c.257A>G (p.Tyr86Cys)
|
rs1173154320
|
0.00001
|
NM_006514.4(SCN10A):c.2655C>T (p.Phe885=)
|
rs755345820
|
0.00001
|
NM_006514.4(SCN10A):c.2658C>T (p.Ile886=)
|
rs148963942
|
0.00001
|
NM_006514.4(SCN10A):c.2710G>A (p.Asp904Asn)
|
rs774493534
|
0.00001
|
NM_006514.4(SCN10A):c.2749A>G (p.Ile917Val)
|
rs995638455
|
0.00001
|
NM_006514.4(SCN10A):c.2764C>T (p.His922Tyr)
|
rs763764330
|
0.00001
|
NM_006514.4(SCN10A):c.2767C>T (p.Arg923Cys)
|
rs267599803
|
0.00001
|
NM_006514.4(SCN10A):c.2833C>T (p.Pro945Ser)
|
rs372907454
|
0.00001
|
NM_006514.4(SCN10A):c.2939C>T (p.Pro980Leu)
|
rs751340142
|
0.00001
|
NM_006514.4(SCN10A):c.319A>T (p.Thr107Ser)
|
rs757050845
|
0.00001
|
NM_006514.4(SCN10A):c.322C>T (p.Arg108Trp)
|
rs1131691525
|
0.00001
|
NM_006514.4(SCN10A):c.3280C>A (p.Pro1094Thr)
|
rs973127854
|
0.00001
|
NM_006514.4(SCN10A):c.3374G>C (p.Cys1125Ser)
|
rs1481868189
|
0.00001
|
NM_006514.4(SCN10A):c.3475A>G (p.Ile1159Val)
|
rs753434251
|
0.00001
|
NM_006514.4(SCN10A):c.3476T>A (p.Ile1159Asn)
|
rs777240104
|
0.00001
|
NM_006514.4(SCN10A):c.3521A>G (p.Tyr1174Cys)
|
rs1167279918
|
0.00001
|
NM_006514.4(SCN10A):c.3571A>T (p.Arg1191Trp)
|
rs773662455
|
0.00001
|
NM_006514.4(SCN10A):c.3580A>T (p.Thr1194Ser)
|
rs780945258
|
0.00001
|
NM_006514.4(SCN10A):c.3667T>C (p.Phe1223Leu)
|
rs1334180362
|
0.00001
|
NM_006514.4(SCN10A):c.3691A>T (p.Ile1231Leu)
|
rs775185585
|
0.00001
|
NM_006514.4(SCN10A):c.3748C>T (p.Arg1250Ter)
|
rs202134330
|
0.00001
|
NM_006514.4(SCN10A):c.3758G>A (p.Arg1253His)
|
rs770705124
|
0.00001
|
NM_006514.4(SCN10A):c.3776G>A (p.Arg1259Gln)
|
rs957441210
|
0.00001
|
NM_006514.4(SCN10A):c.3802C>T (p.Arg1268Trp)
|
rs766044301
|
0.00001
|
NM_006514.4(SCN10A):c.3804+1G>A
|
rs1363445455
|
0.00001
|
NM_006514.4(SCN10A):c.3890T>G (p.Ile1297Ser)
|
rs978977328
|
0.00001
|
NM_006514.4(SCN10A):c.3942C>T (p.Thr1314=)
|
rs760702095
|
0.00001
|
NM_006514.4(SCN10A):c.4016G>T (p.Gly1339Val)
|
rs1191498319
|
0.00001
|
NM_006514.4(SCN10A):c.4025T>C (p.Phe1342Ser)
|
rs763963972
|
0.00001
|
NM_006514.4(SCN10A):c.4028G>A (p.Trp1343Ter)
|
rs756036768
|
0.00001
|
NM_006514.4(SCN10A):c.410C>T (p.Thr137Met)
|
rs148663098
|
0.00001
|
NM_006514.4(SCN10A):c.4266T>A (p.Asn1422Lys)
|
rs1334461772
|
0.00001
|
NM_006514.4(SCN10A):c.4327T>C (p.Tyr1443His)
|
rs762798134
|
0.00001
|
NM_006514.4(SCN10A):c.43C>G (p.Arg15Gly)
|
rs754392803
|
0.00001
|
NM_006514.4(SCN10A):c.4438A>G (p.Ile1480Val)
|
rs1406169129
|
0.00001
|
NM_006514.4(SCN10A):c.4744C>T (p.Arg1582Cys)
|
rs569261408
|
0.00001
|
NM_006514.4(SCN10A):c.4783A>G (p.Thr1595Ala)
|
rs747919920
|
0.00001
|
NM_006514.4(SCN10A):c.4948A>T (p.Ser1650Cys)
|
rs780649338
|
0.00001
|
NM_006514.4(SCN10A):c.4979C>T (p.Ser1660Leu)
|
rs998456008
|
0.00001
|
NM_006514.4(SCN10A):c.5071G>T (p.Asp1691Tyr)
|
rs774106005
|
0.00001
|
NM_006514.4(SCN10A):c.5177A>G (p.Asn1726Ser)
|
rs1420941706
|
0.00001
|
NM_006514.4(SCN10A):c.5186C>T (p.Thr1729Met)
|
rs751384151
|
0.00001
|
NM_006514.4(SCN10A):c.5301T>G (p.Phe1767Leu)
|
rs2063111131
|
0.00001
|
NM_006514.4(SCN10A):c.5371C>A (p.Pro1791Thr)
|
rs371803816
|
0.00001
|
NM_006514.4(SCN10A):c.5516A>G (p.Tyr1839Cys)
|
rs777591347
|
0.00001
|
NM_006514.4(SCN10A):c.5587C>T (p.Arg1863Trp)
|
rs370779258
|
0.00001
|
NM_006514.4(SCN10A):c.5588G>A (p.Arg1863Gln)
|
rs191869263
|
0.00001
|
NM_006514.4(SCN10A):c.5613G>A (p.Met1871Ile)
|
rs370483003
|
0.00001
|
NM_006514.4(SCN10A):c.5626A>G (p.Thr1876Ala)
|
rs759136534
|
0.00001
|
NM_006514.4(SCN10A):c.5700T>A (p.Asn1900Lys)
|
rs764330725
|
0.00001
|
NM_006514.4(SCN10A):c.5866C>A (p.Pro1956Thr)
|
rs748441157
|
0.00001
|
NM_006514.4(SCN10A):c.753C>G (p.Ile251Met)
|
rs747296872
|
0.00001
|
NM_006514.4(SCN10A):c.773G>T (p.Ser258Ile)
|
rs758197140
|
0.00001
|
NM_006514.4(SCN10A):c.827G>A (p.Cys276Tyr)
|
rs1251019283
|
0.00001
|
NM_006514.4(SCN10A):c.883C>T (p.Pro295Ser)
|
rs371909817
|
0.00001
|
NM_006514.4(SCN10A):c.890T>C (p.Ile297Thr)
|
rs553913580
|
0.00001
|
NM_006912.6(RIT1):c.13A>T (p.Thr5Ser)
|
rs771768320
|
0.00001
|
NM_006912.6(RIT1):c.140C>T (p.Pro47Leu)
|
rs747376042
|
0.00001
|
NM_006912.6(RIT1):c.326A>G (p.His109Arg)
|
rs1407666045
|
0.00001
|
NM_006912.6(RIT1):c.334C>T (p.Arg112Cys)
|
rs375724784
|
0.00001
|
NM_006912.6(RIT1):c.461G>A (p.Arg154Gln)
|
rs754596127
|
0.00001
|
NM_006912.6(RIT1):c.46G>A (p.Ala16Thr)
|
rs1131692009
|
0.00001
|
NM_006912.6(RIT1):c.500A>G (p.Tyr167Cys)
|
rs1372704169
|
0.00001
|
NM_006939.4(SOS2):c.1557G>C (p.Glu519Asp)
|
rs1884935096
|
0.00001
|
NM_006939.4(SOS2):c.189G>C (p.Gln63His)
|
rs771269309
|
0.00001
|
NM_006939.4(SOS2):c.2245A>G (p.Asn749Asp)
|
rs764992819
|
0.00001
|
NM_006939.4(SOS2):c.2264C>T (p.Pro755Leu)
|
rs868005783
|
0.00001
|
NM_006939.4(SOS2):c.2602G>A (p.Gly868Ser)
|
rs751419448
|
0.00001
|
NM_006939.4(SOS2):c.2730T>A (p.Phe910Leu)
|
rs756711721
|
0.00001
|
NM_006939.4(SOS2):c.2957G>A (p.Arg986Lys)
|
rs772746106
|
0.00001
|
NM_006939.4(SOS2):c.3026A>G (p.Asn1009Ser)
|
rs779413196
|
0.00001
|
NM_006939.4(SOS2):c.3277C>T (p.Pro1093Ser)
|
rs755233845
|
0.00001
|
NM_006939.4(SOS2):c.3356C>T (p.Ala1119Val)
|
rs376113934
|
0.00001
|
NM_006939.4(SOS2):c.3698A>C (p.Asn1233Thr)
|
rs201756168
|
0.00001
|
NM_006939.4(SOS2):c.374A>T (p.His125Leu)
|
rs777300218
|
0.00001
|
NM_006939.4(SOS2):c.3782C>G (p.Thr1261Ser)
|
rs780772018
|
0.00001
|
NM_006939.4(SOS2):c.3815G>A (p.Arg1272His)
|
rs200104745
|
0.00001
|
NM_006939.4(SOS2):c.3944C>T (p.Ser1315Leu)
|
rs865922330
|
0.00001
|
NM_006939.4(SOS2):c.680C>G (p.Ala227Gly)
|
rs756565236
|
0.00001
|
NM_007078.3(LDB3):c.1016C>G (p.Ala339Gly)
|
rs764530865
|
0.00001
|
NM_007078.3(LDB3):c.1094C>T (p.Ala365Val)
|
rs747011937
|
0.00001
|
NM_007078.3(LDB3):c.1132C>T (p.Pro378Ser)
|
rs373546361
|
0.00001
|
NM_007078.3(LDB3):c.1153A>G (p.Ser385Gly)
|
rs777547764
|
0.00001
|
NM_007078.3(LDB3):c.1211G>A (p.Arg404Gln)
|
rs150868546
|
0.00001
|
NM_007078.3(LDB3):c.1298C>T (p.Pro433Leu)
|
rs776138543
|
0.00001
|
NM_007078.3(LDB3):c.1313C>A (p.Thr438Asn)
|
rs767914340
|
0.00001
|
NM_007078.3(LDB3):c.139G>A (p.Asp47Asn)
|
rs397517212
|
0.00001
|
NM_007078.3(LDB3):c.13G>A (p.Val5Met)
|
rs773170985
|
0.00001
|
NM_007078.3(LDB3):c.1421C>T (p.Ser474Leu)
|
rs1011836119
|
0.00001
|
NM_007078.3(LDB3):c.1437G>C (p.Gly479=)
|
rs960379328
|
0.00001
|
NM_007078.3(LDB3):c.1472T>A (p.Val491Glu)
|
rs139709036
|
0.00001
|
NM_007078.3(LDB3):c.1502C>T (p.Ala501Val)
|
rs755362259
|
0.00001
|
NM_007078.3(LDB3):c.1664A>G (p.Asn555Ser)
|
rs760635362
|
0.00001
|
NM_007078.3(LDB3):c.1748C>G (p.Ser583Cys)
|
rs1263835922
|
0.00001
|
NM_007078.3(LDB3):c.1798C>T (p.Arg600Ter)
|
rs727503132
|
0.00001
|
NM_007078.3(LDB3):c.1805A>C (p.Tyr602Ser)
|
rs1349969494
|
0.00001
|
NM_007078.3(LDB3):c.1885T>C (p.Trp629Arg)
|
rs773554501
|
0.00001
|
NM_007078.3(LDB3):c.1894A>G (p.Thr632Ala)
|
rs770525232
|
0.00001
|
NM_007078.3(LDB3):c.2119C>T (p.Gln707Ter)
|
rs771316707
|
0.00001
|
NM_007078.3(LDB3):c.2142C>A (p.Asp714Glu)
|
rs1054918785
|
0.00001
|
NM_007078.3(LDB3):c.2164G>A (p.Ala722Thr)
|
rs727505129
|
0.00001
|
NM_007078.3(LDB3):c.254G>A (p.Arg85His)
|
rs200420174
|
0.00001
|
NM_007078.3(LDB3):c.272C>T (p.Thr91Met)
|
rs769237367
|
0.00001
|
NM_007078.3(LDB3):c.281C>T (p.Pro94Leu)
|
rs772912790
|
0.00001
|
NM_007078.3(LDB3):c.324C>A (p.Asp108Glu)
|
rs1322226509
|
0.00001
|
NM_007078.3(LDB3):c.343G>A (p.Gly115Ser)
|
rs397517222
|
0.00001
|
NM_007078.3(LDB3):c.380G>A (p.Arg127Lys)
|
rs1365412037
|
0.00001
|
NM_007078.3(LDB3):c.442C>T (p.Arg148Trp)
|
rs536186237
|
0.00001
|
NM_007078.3(LDB3):c.467C>T (p.Ala156Val)
|
rs1243384140
|
0.00001
|
NM_007078.3(LDB3):c.536A>G (p.Asp179Gly)
|
rs794729058
|
0.00001
|
NM_007078.3(LDB3):c.550A>G (p.Lys184Glu)
|
rs774886148
|
0.00001
|
NM_007078.3(LDB3):c.575C>T (p.Pro192Leu)
|
rs758182278
|
0.00001
|
NM_007078.3(LDB3):c.592C>T (p.Pro198Ser)
|
rs1060501318
|
0.00001
|
NM_007078.3(LDB3):c.617C>T (p.Thr206Ile)
|
rs121908337
|
0.00001
|
NM_007078.3(LDB3):c.645G>A (p.Gln215=)
|
rs957930268
|
0.00001
|
NM_007078.3(LDB3):c.716T>C (p.Val239Ala)
|
rs774595610
|
0.00001
|
NM_007078.3(LDB3):c.72C>A (p.Asn24Lys)
|
rs1323002546
|
0.00001
|
NM_007078.3(LDB3):c.742G>A (p.Ala248Thr)
|
rs369419493
|
0.00001
|
NM_007078.3(LDB3):c.782A>C (p.Asp261Ala)
|
rs1285921374
|
0.00001
|
NM_007078.3(LDB3):c.790G>A (p.Ala264Thr)
|
rs146414300
|
0.00001
|
NM_007078.3(LDB3):c.796C>T (p.Arg266Cys)
|
rs776803568
|
0.00001
|
NM_007078.3(LDB3):c.817C>T (p.Arg273Cys)
|
rs141116920
|
0.00001
|
NM_007078.3(LDB3):c.897-1_897del
|
rs1354084230
|
0.00001
|
NM_007078.3(LDB3):c.914C>A (p.Ala305Glu)
|
rs544084461
|
0.00001
|
NM_007078.3(LDB3):c.917C>T (p.Pro306Leu)
|
rs955622381
|
0.00001
|
NM_007078.3(LDB3):c.938C>T (p.Thr313Ile)
|
rs367882377
|
0.00001
|
NM_007078.3(LDB3):c.955G>A (p.Ala319Thr)
|
rs151219713
|
0.00001
|
NM_007373.4(SHOC2):c.1288C>T (p.Leu430Phe)
|
rs730881022
|
0.00001
|
NM_007373.4(SHOC2):c.1439A>C (p.Asn480Thr)
|
rs995403413
|
0.00001
|
NM_007373.4(SHOC2):c.1660A>G (p.Ser554Gly)
|
rs771053632
|
0.00001
|
NM_007373.4(SHOC2):c.169T>C (p.Ser57Pro)
|
rs754709778
|
0.00001
|
NM_007373.4(SHOC2):c.616A>G (p.Thr206Ala)
|
rs370388274
|
0.00001
|
NM_007373.4(SHOC2):c.743A>G (p.Asn248Ser)
|
rs374067666
|
0.00001
|
NM_007373.4(SHOC2):c.757C>T (p.Leu253Phe)
|
rs1196924389
|
0.00001
|
NM_007373.4(SHOC2):c.770T>C (p.Ile257Thr)
|
rs1300537933
|
0.00001
|
NM_012186.3(FOXE3):c.145G>C (p.Gly49Arg)
|
rs958293767
|
0.00001
|
NM_012186.3(FOXE3):c.371C>T (p.Thr124Met)
|
rs773472430
|
0.00001
|
NM_012186.3(FOXE3):c.52G>C (p.Ala18Pro)
|
rs1401137576
|
0.00001
|
NM_012186.3(FOXE3):c.763G>A (p.Ala255Thr)
|
rs911732099
|
0.00001
|
NM_012186.3(FOXE3):c.854C>A (p.Pro285His)
|
rs1184373895
|
0.00001
|
NM_014000.3(VCL):c.1006G>A (p.Ala336Thr)
|
rs565546734
|
0.00001
|
NM_014000.3(VCL):c.1046C>T (p.Ala349Val)
|
rs777709634
|
0.00001
|
NM_014000.3(VCL):c.1050G>A (p.Met350Ile)
|
rs771542436
|
0.00001
|
NM_014000.3(VCL):c.1114C>T (p.Arg372Cys)
|
rs770954415
|
0.00001
|
NM_014000.3(VCL):c.1147A>G (p.Ser383Gly)
|
rs1444969965
|
0.00001
|
NM_014000.3(VCL):c.1223T>C (p.Ile408Thr)
|
rs878854969
|
0.00001
|
NM_014000.3(VCL):c.1238C>T (p.Ala413Val)
|
rs794729190
|
0.00001
|
NM_014000.3(VCL):c.1246C>T (p.Arg416Trp)
|
rs746004026
|
0.00001
|
NM_014000.3(VCL):c.1292T>G (p.Ile431Ser)
|
rs766192312
|
0.00001
|
NM_014000.3(VCL):c.1298G>A (p.Arg433His)
|
rs754046223
|
0.00001
|
NM_014000.3(VCL):c.1382C>G (p.Ala461Gly)
|
rs886038800
|
0.00001
|
NM_014000.3(VCL):c.1433A>G (p.Asn478Ser)
|
rs763235691
|
0.00001
|
NM_014000.3(VCL):c.1435C>T (p.Arg479Trp)
|
rs369055603
|
0.00001
|
NM_014000.3(VCL):c.1604G>A (p.Gly535Glu)
|
rs1342547968
|
0.00001
|
NM_014000.3(VCL):c.1612C>T (p.Arg538Trp)
|
rs1371212023
|
0.00001
|
NM_014000.3(VCL):c.1640G>A (p.Arg547Gln)
|
rs748044427
|
0.00001
|
NM_014000.3(VCL):c.1816A>G (p.Ile606Val)
|
rs750293810
|
0.00001
|
NM_014000.3(VCL):c.1838C>T (p.Ala613Val)
|
rs781520177
|
0.00001
|
NM_014000.3(VCL):c.184G>A (p.Val62Ile)
|
rs147809878
|
0.00001
|
NM_014000.3(VCL):c.1863C>G (p.Asn621Lys)
|
rs746293391
|
0.00001
|
NM_014000.3(VCL):c.1918C>G (p.Leu640Val)
|
rs886047219
|
0.00001
|
NM_014000.3(VCL):c.1999A>G (p.Thr667Ala)
|
rs1233764253
|
0.00001
|
NM_014000.3(VCL):c.2000C>T (p.Thr667Met)
|
rs794729187
|
0.00001
|
NM_014000.3(VCL):c.2159A>T (p.Lys720Ile)
|
rs1554818881
|
0.00001
|
NM_014000.3(VCL):c.2182G>A (p.Glu728Lys)
|
rs144717954
|
0.00001
|
NM_014000.3(VCL):c.2284C>T (p.Arg762Trp)
|
rs1334643090
|
0.00001
|
NM_014000.3(VCL):c.2285G>A (p.Arg762Gln)
|
rs540039788
|
0.00001
|
NM_014000.3(VCL):c.2305A>G (p.Arg769Gly)
|
rs566257885
|
0.00001
|
NM_014000.3(VCL):c.2332A>G (p.Lys778Glu)
|
rs1840113067
|
0.00001
|
NM_014000.3(VCL):c.2338C>T (p.Arg780Cys)
|
rs753445972
|
0.00001
|
NM_014000.3(VCL):c.2365G>A (p.Glu789Lys)
|
rs745419923
|
0.00001
|
NM_014000.3(VCL):c.2378C>A (p.Thr793Asn)
|
rs773421444
|
0.00001
|
NM_014000.3(VCL):c.238A>C (p.Lys80Gln)
|
rs775532257
|
0.00001
|
NM_014000.3(VCL):c.239+3G>A
|
rs372571288
|
0.00001
|
NM_014000.3(VCL):c.2602G>A (p.Gly868Ser)
|
rs960636997
|
0.00001
|
NM_014000.3(VCL):c.2803G>A (p.Asp935Asn)
|
rs746658025
|
0.00001
|
NM_014000.3(VCL):c.2807C>T (p.Ala936Val)
|
rs754681045
|
0.00001
|
NM_014000.3(VCL):c.2829del (p.Asp944fs)
|
rs750347797
|
0.00001
|
NM_014000.3(VCL):c.2834T>C (p.Met945Thr)
|
rs1443843519
|
0.00001
|
NM_014000.3(VCL):c.2852C>G (p.Pro951Arg)
|
rs368570586
|
0.00001
|
NM_014000.3(VCL):c.2867T>G (p.Met956Arg)
|
rs765717598
|
0.00001
|
NM_014000.3(VCL):c.2893C>T (p.Pro965Ser)
|
rs749236817
|
0.00001
|
NM_014000.3(VCL):c.2923C>T (p.Arg975Trp)
|
rs121917776
|
0.00001
|
NM_014000.3(VCL):c.292G>A (p.Asp98Asn)
|
rs794729193
|
0.00001
|
NM_014000.3(VCL):c.3007C>T (p.Arg1003Trp)
|
rs753166628
|
0.00001
|
NM_014000.3(VCL):c.3259-5T>C
|
rs1057523095
|
0.00001
|
NM_014000.3(VCL):c.457A>C (p.Thr153Pro)
|
rs376921881
|
0.00001
|
NM_014000.3(VCL):c.527A>G (p.Asp176Gly)
|
rs573623641
|
0.00001
|
NM_014000.3(VCL):c.529G>A (p.Glu177Lys)
|
rs1007055332
|
0.00001
|
NM_014000.3(VCL):c.562C>T (p.Arg188Ter)
|
rs397517244
|
0.00001
|
NM_014000.3(VCL):c.581C>T (p.Ser194Leu)
|
rs921627346
|
0.00001
|
NM_014000.3(VCL):c.689G>A (p.Arg230His)
|
rs749628307
|
0.00001
|
NM_014000.3(VCL):c.739G>A (p.Val247Met)
|
rs545372383
|
0.00001
|
NM_014000.3(VCL):c.844G>T (p.Gly282Cys)
|
rs766091503
|
0.00001
|
NM_014000.3(VCL):c.952C>T (p.Arg318Cys)
|
rs397517247
|
0.00001
|
NM_014000.3(VCL):c.997G>A (p.Asp333Asn)
|
rs778677392
|
0.00001
|
NM_014391.3(ANKRD1):c.175C>G (p.Gln59Glu)
|
rs1057521825
|
0.00001
|
NM_014391.3(ANKRD1):c.194A>C (p.Gln65Pro)
|
rs759803899
|
0.00001
|
NM_014391.3(ANKRD1):c.214A>G (p.Lys72Glu)
|
rs1564574800
|
0.00001
|
NM_014391.3(ANKRD1):c.28-3T>C
|
rs369640260
|
0.00001
|
NM_014391.3(ANKRD1):c.300G>C (p.Arg100Ser)
|
rs1323094013
|
0.00001
|
NM_014391.3(ANKRD1):c.3G>C (p.Met1Ile)
|
rs188706671
|
0.00001
|
NM_014391.3(ANKRD1):c.404T>A (p.Val135Glu)
|
rs995351186
|
0.00001
|
NM_014391.3(ANKRD1):c.460C>T (p.Arg154Trp)
|
rs751739709
|
0.00001
|
NM_014391.3(ANKRD1):c.523G>A (p.Ala175Thr)
|
rs914206942
|
0.00001
|
NM_014391.3(ANKRD1):c.534G>T (p.Gln178His)
|
rs1415990803
|
0.00001
|
NM_014391.3(ANKRD1):c.625G>C (p.Gly209Arg)
|
rs754771221
|
0.00001
|
NM_014391.3(ANKRD1):c.722G>A (p.Cys241Tyr)
|
rs143802739
|
0.00001
|
NM_014391.3(ANKRD1):c.728C>G (p.Ala243Gly)
|
rs756211418
|
0.00001
|
NM_014391.3(ANKRD1):c.759T>A (p.Asp253Glu)
|
rs139885263
|
0.00001
|
NM_014391.3(ANKRD1):c.863C>T (p.Pro288Leu)
|
rs1482577739
|
0.00001
|
NM_014391.3(ANKRD1):c.943C>T (p.Arg315Cys)
|
rs775584071
|
0.00001
|
NM_014476.6(PDLIM3):c.895A>C (p.Ser299Arg)
|
rs1034968896
|
0.00001
|
NM_014908.4(DOLK):c.1010G>A (p.Arg337Gln)
|
rs759025031
|
0.00001
|
NM_014908.4(DOLK):c.1159A>G (p.Thr387Ala)
|
rs747285047
|
0.00001
|
NM_014908.4(DOLK):c.1178C>T (p.Ser393Phe)
|
rs982668501
|
0.00001
|
NM_014908.4(DOLK):c.1190A>G (p.Asp397Gly)
|
rs753795845
|
0.00001
|
NM_014908.4(DOLK):c.1303G>C (p.Ala435Pro)
|
rs1306365829
|
0.00001
|
NM_014908.4(DOLK):c.1419T>G (p.Phe473Leu)
|
rs780799327
|
0.00001
|
NM_014908.4(DOLK):c.1445C>T (p.Ala482Val)
|
rs767693634
|
0.00001
|
NM_014908.4(DOLK):c.1594C>T (p.Leu532Phe)
|
rs140350881
|
0.00001
|
NM_014908.4(DOLK):c.175A>G (p.Lys59Glu)
|
rs771383826
|
0.00001
|
NM_014908.4(DOLK):c.292C>T (p.Arg98Trp)
|
rs747555089
|
0.00001
|
NM_014908.4(DOLK):c.401G>A (p.Arg134His)
|
rs768596252
|
0.00001
|
NM_014908.4(DOLK):c.432G>C (p.Leu144Phe)
|
rs780422418
|
0.00001
|
NM_014908.4(DOLK):c.463A>T (p.Met155Leu)
|
rs1218829181
|
0.00001
|
NM_014908.4(DOLK):c.472T>A (p.Ser158Thr)
|
rs1246967572
|
0.00001
|
NM_014908.4(DOLK):c.493A>G (p.Ile165Val)
|
rs762432181
|
0.00001
|
NM_014908.4(DOLK):c.560G>T (p.Arg187Leu)
|
rs377658203
|
0.00001
|
NM_014908.4(DOLK):c.581C>T (p.Ala194Val)
|
rs763132281
|
0.00001
|
NM_014908.4(DOLK):c.703G>A (p.Val235Ile)
|
rs759019995
|
0.00001
|
NM_014908.4(DOLK):c.710T>C (p.Met237Thr)
|
rs201363976
|
0.00001
|
NM_014908.4(DOLK):c.719T>C (p.Phe240Ser)
|
rs765475110
|
0.00001
|
NM_014908.4(DOLK):c.725G>A (p.Ser242Asn)
|
rs876657786
|
0.00001
|
NM_014908.4(DOLK):c.73G>A (p.Ala25Thr)
|
rs764980710
|
0.00001
|
NM_014908.4(DOLK):c.967T>C (p.Ser323Pro)
|
rs750702584
|
0.00001
|
NM_015141.4(GPD1L):c.1A>G (p.Met1Val)
|
rs148643167
|
0.00001
|
NM_015141.4(GPD1L):c.298A>G (p.Ile100Val)
|
rs771610382
|
0.00001
|
NM_015141.4(GPD1L):c.344C>T (p.Ala115Val)
|
rs765497074
|
0.00001
|
NM_015141.4(GPD1L):c.376del (p.Glu126fs)
|
rs761698828
|
0.00001
|
NM_015141.4(GPD1L):c.383C>T (p.Pro128Leu)
|
rs201900323
|
0.00001
|
NM_015141.4(GPD1L):c.385G>A (p.Glu129Lys)
|
rs751477655
|
0.00001
|
NM_015141.4(GPD1L):c.416G>A (p.Arg139His)
|
rs775043567
|
0.00001
|
NM_015141.4(GPD1L):c.47+1G>A
|
rs1221530760
|
0.00001
|
NM_015141.4(GPD1L):c.652G>A (p.Gly218Ser)
|
rs559530222
|
0.00001
|
NM_015141.4(GPD1L):c.671A>G (p.Asn224Ser)
|
rs1332344958
|
0.00001
|
NM_015141.4(GPD1L):c.692G>A (p.Arg231His)
|
rs869025436
|
0.00001
|
NM_015141.4(GPD1L):c.878T>C (p.Met293Thr)
|
rs188138719
|
0.00001
|
NM_015141.4(GPD1L):c.905C>T (p.Pro302Leu)
|
rs1409253059
|
0.00001
|
NM_015141.4(GPD1L):c.959A>G (p.Lys320Arg)
|
rs769123169
|
0.00001
|
NM_015141.4(GPD1L):c.977C>A (p.Ala326Glu)
|
rs774304068
|
0.00001
|
NM_015141.4(GPD1L):c.987G>T (p.Gln329His)
|
rs767661465
|
0.00001
|
NM_015141.4(GPD1L):c.997G>A (p.Glu333Lys)
|
rs201799095
|
0.00001
|
NM_015627.3(LDLRAP1):c.278C>T (p.Ser93Leu)
|
rs559751073
|
0.00001
|
NM_015627.3(LDLRAP1):c.331G>A (p.Val111Met)
|
rs746197297
|
0.00001
|
NM_015627.3(LDLRAP1):c.339A>G (p.Ile113Met)
|
rs780582666
|
0.00001
|
NM_015627.3(LDLRAP1):c.34A>G (p.Ile12Val)
|
rs1250534468
|
0.00001
|
NM_016203.4(PRKAG2):c.1003A>G (p.Met335Val)
|
rs769428744
|
0.00001
|
NM_016203.4(PRKAG2):c.1172T>C (p.Ile391Thr)
|
rs1425296851
|
0.00001
|
NM_016203.4(PRKAG2):c.1238C>G (p.Ser413Cys)
|
rs758756757
|
0.00001
|
NM_016203.4(PRKAG2):c.1255G>A (p.Ala419Thr)
|
rs373919593
|
0.00001
|
NM_016203.4(PRKAG2):c.1295C>T (p.Thr432Met)
|
rs760879406
|
0.00001
|
NM_016203.4(PRKAG2):c.1390G>A (p.Asp464Asn)
|
rs397517264
|
0.00001
|
NM_016203.4(PRKAG2):c.1475T>A (p.Ile492Asn)
|
rs186114650
|
0.00001
|
NM_016203.4(PRKAG2):c.1637C>G (p.Ser546Cys)
|
rs1584912413
|
0.00001
|
NM_016203.4(PRKAG2):c.292A>G (p.Ser98Gly)
|
rs1243030792
|
0.00001
|
NM_016203.4(PRKAG2):c.320C>T (p.Pro107Leu)
|
rs730880985
|
0.00001
|
NM_016203.4(PRKAG2):c.347G>T (p.Arg116Leu)
|
rs369471907
|
0.00001
|
NM_016203.4(PRKAG2):c.359G>T (p.Arg120Leu)
|
rs775756069
|
0.00001
|
NM_016203.4(PRKAG2):c.395A>G (p.Lys132Arg)
|
rs779753891
|
0.00001
|
NM_016203.4(PRKAG2):c.40G>C (p.Val14Leu)
|
rs150188173
|
0.00001
|
NM_016203.4(PRKAG2):c.475C>T (p.Leu159Phe)
|
rs1832795622
|
0.00001
|
NM_016203.4(PRKAG2):c.56G>A (p.Gly19Glu)
|
rs368522976
|
0.00001
|
NM_016203.4(PRKAG2):c.592C>T (p.Pro198Ser)
|
rs753859556
|
0.00001
|
NM_016203.4(PRKAG2):c.632G>A (p.Ser211Asn)
|
rs768909087
|
0.00001
|
NM_016203.4(PRKAG2):c.64G>A (p.Gly22Ser)
|
rs1057524523
|
0.00001
|
NM_016203.4(PRKAG2):c.685-1G>A
|
rs1824685527
|
0.00001
|
NM_016203.4(PRKAG2):c.691C>G (p.Leu231Val)
|
rs745772277
|
0.00001
|
NM_016203.4(PRKAG2):c.979C>G (p.Leu327Val)
|
rs730880988
|
0.00001
|
NM_016204.4(GDF2):c.825del (p.Met275fs)
|
rs1555209009
|
0.00001
|
NM_016204.4(GDF2):c.964G>A (p.Gly322Arg)
|
rs782796080
|
0.00001
|
NM_016599.5(MYOZ2):c.11A>T (p.His4Leu)
|
rs376901669
|
0.00001
|
NM_016599.5(MYOZ2):c.181C>T (p.Arg61Cys)
|
rs755233280
|
0.00001
|
NM_016599.5(MYOZ2):c.247-3C>T
|
rs774202003
|
0.00001
|
NM_016599.5(MYOZ2):c.275T>C (p.Val92Ala)
|
rs764229797
|
0.00001
|
NM_016599.5(MYOZ2):c.343C>T (p.Arg115Ter)
|
rs374655743
|
0.00001
|
NM_016599.5(MYOZ2):c.497T>C (p.Leu166Ser)
|
rs1227160156
|
0.00001
|
NM_016599.5(MYOZ2):c.749C>T (p.Thr250Ile)
|
rs774131437
|
0.00001
|
NM_016938.5(EFEMP2):c.110C>T (p.Thr37Met)
|
rs921412303
|
0.00001
|
NM_016938.5(EFEMP2):c.1183G>A (p.Val395Ile)
|
rs543567156
|
0.00001
|
NM_016938.5(EFEMP2):c.1225C>T (p.Arg409Trp)
|
rs774325189
|
0.00001
|
NM_016938.5(EFEMP2):c.253G>A (p.Ala85Thr)
|
rs148604051
|
0.00001
|
NM_016938.5(EFEMP2):c.286C>T (p.Pro96Ser)
|
rs141721562
|
0.00001
|
NM_016938.5(EFEMP2):c.321C>A (p.Asn107Lys)
|
rs762409753
|
0.00001
|
NM_016938.5(EFEMP2):c.496G>A (p.Asp166Asn)
|
rs145037272
|
0.00001
|
NM_016938.5(EFEMP2):c.505C>T (p.Arg169Cys)
|
rs762712612
|
0.00001
|
NM_016938.5(EFEMP2):c.557G>C (p.Cys186Ser)
|
rs1361657266
|
0.00001
|
NM_016938.5(EFEMP2):c.579G>C (p.Gln193His)
|
rs1565273832
|
0.00001
|
NM_016938.5(EFEMP2):c.836G>A (p.Arg279His)
|
rs756905509
|
0.00001
|
NM_016938.5(EFEMP2):c.96G>T (p.Glu32Asp)
|
rs1011011078
|
0.00001
|
NM_016938.5(EFEMP2):c.989C>T (p.Pro330Leu)
|
rs781029572
|
0.00001
|
NM_017636.4(TRPM4):c.1003A>G (p.Ile335Val)
|
rs758151540
|
0.00001
|
NM_017636.4(TRPM4):c.1006A>G (p.Arg336Gly)
|
rs748424780
|
0.00001
|
NM_017636.4(TRPM4):c.1070G>A (p.Arg357Gln)
|
rs144328631
|
0.00001
|
NM_017636.4(TRPM4):c.1138G>A (p.Ala380Thr)
|
rs1322849120
|
0.00001
|
NM_017636.4(TRPM4):c.1150+5A>T
|
rs200371133
|
0.00001
|
NM_017636.4(TRPM4):c.1163C>T (p.Ser388Leu)
|
rs771887682
|
0.00001
|
NM_017636.4(TRPM4):c.1216G>A (p.Val406Met)
|
rs188677941
|
0.00001
|
NM_017636.4(TRPM4):c.1244G>A (p.Arg415Gln)
|
rs372791133
|
0.00001
|
NM_017636.4(TRPM4):c.13G>A (p.Glu5Lys)
|
rs999572673
|
0.00001
|
NM_017636.4(TRPM4):c.1453G>A (p.Gly485Ser)
|
rs773556358
|
0.00001
|
NM_017636.4(TRPM4):c.1569C>T (p.Gly523=)
|
rs751825185
|
0.00001
|
NM_017636.4(TRPM4):c.1612T>C (p.Tyr538His)
|
rs528643605
|
0.00001
|
NM_017636.4(TRPM4):c.1697C>T (p.Ala566Val)
|
rs1305383202
|
0.00001
|
NM_017636.4(TRPM4):c.1795A>G (p.Met599Val)
|
rs139753455
|
0.00001
|
NM_017636.4(TRPM4):c.1991G>A (p.Arg664His)
|
rs367897902
|
0.00001
|
NM_017636.4(TRPM4):c.2019+5G>A
|
rs370812642
|
0.00001
|
NM_017636.4(TRPM4):c.2053G>A (p.Ala685Thr)
|
rs761730198
|
0.00001
|
NM_017636.4(TRPM4):c.2117G>A (p.Arg706His)
|
rs79868934
|
0.00001
|
NM_017636.4(TRPM4):c.2136A>G (p.Lys712=)
|
rs368500945
|
0.00001
|
NM_017636.4(TRPM4):c.2211-5C>A
|
rs749307006
|
0.00001
|
NM_017636.4(TRPM4):c.2264G>A (p.Arg755His)
|
rs751903628
|
0.00001
|
NM_017636.4(TRPM4):c.2274C>G (p.Cys758Trp)
|
rs777409336
|
0.00001
|
NM_017636.4(TRPM4):c.2275T>G (p.Cys759Gly)
|
rs757164235
|
0.00001
|
NM_017636.4(TRPM4):c.2330G>A (p.Gly777Asp)
|
rs771427749
|
0.00001
|
NM_017636.4(TRPM4):c.2404C>T (p.Leu802Phe)
|
rs1289712382
|
0.00001
|
NM_017636.4(TRPM4):c.2497C>G (p.Leu833Val)
|
rs1292906151
|
0.00001
|
NM_017636.4(TRPM4):c.2654C>T (p.Pro885Leu)
|
rs371259147
|
0.00001
|
NM_017636.4(TRPM4):c.268-1G>A
|
rs140487844
|
0.00001
|
NM_017636.4(TRPM4):c.2714G>A (p.Arg905Gln)
|
rs1968868883
|
0.00001
|
NM_017636.4(TRPM4):c.2738A>G (p.Asn913Ser)
|
rs749667228
|
0.00001
|
NM_017636.4(TRPM4):c.2815G>T (p.Val939Leu)
|
rs749058255
|
0.00001
|
NM_017636.4(TRPM4):c.287G>A (p.Arg96Gln)
|
rs564940023
|
0.00001
|
NM_017636.4(TRPM4):c.290C>T (p.Thr97Met)
|
rs570570457
|
0.00001
|
NM_017636.4(TRPM4):c.2944G>A (p.Asp982Asn)
|
rs774859499
|
0.00001
|
NM_017636.4(TRPM4):c.2981C>T (p.Ser994Leu)
|
rs575737661
|
0.00001
|
NM_017636.4(TRPM4):c.3062T>A (p.Val1021Glu)
|
rs779059936
|
0.00001
|
NM_017636.4(TRPM4):c.3130A>T (p.Ser1044Cys)
|
rs780227965
|
0.00001
|
NM_017636.4(TRPM4):c.3200G>T (p.Arg1067Leu)
|
rs781475700
|
0.00001
|
NM_017636.4(TRPM4):c.3446A>G (p.Lys1149Arg)
|
rs202010190
|
0.00001
|
NM_017636.4(TRPM4):c.3449G>T (p.Arg1150Leu)
|
rs1273337644
|
0.00001
|
NM_017636.4(TRPM4):c.38A>G (p.Lys13Arg)
|
rs767972673
|
0.00001
|
NM_017636.4(TRPM4):c.415C>T (p.Arg139Cys)
|
rs765443118
|
0.00001
|
NM_017636.4(TRPM4):c.418C>T (p.Arg140Cys)
|
rs1026482252
|
0.00001
|
NM_017636.4(TRPM4):c.490C>T (p.Arg164Trp)
|
rs387907216
|
0.00001
|
NM_017636.4(TRPM4):c.634C>T (p.Arg212Trp)
|
rs759593186
|
0.00001
|
NM_017636.4(TRPM4):c.640C>T (p.Arg214Cys)
|
rs149860526
|
0.00001
|
NM_017636.4(TRPM4):c.650C>T (p.Pro217Leu)
|
rs750644014
|
0.00001
|
NM_017636.4(TRPM4):c.658G>A (p.Gly220Arg)
|
rs1161880335
|
0.00001
|
NM_017636.4(TRPM4):c.689C>T (p.Ser230Leu)
|
rs558212476
|
0.00001
|
NM_017636.4(TRPM4):c.697T>C (p.Phe233Leu)
|
rs770448797
|
0.00001
|
NM_017636.4(TRPM4):c.722G>T (p.Gly241Val)
|
rs1967332418
|
0.00001
|
NM_017636.4(TRPM4):c.920C>T (p.Ala307Val)
|
rs778825571
|
0.00001
|
NM_017636.4(TRPM4):c.923C>T (p.Ala308Val)
|
rs747192078
|
0.00001
|
NM_017636.4(TRPM4):c.970G>T (p.Gly324Trp)
|
rs548064960
|
0.00001
|
NM_017636.4(TRPM4):c.994C>T (p.Arg332Ter)
|
rs753753488
|
0.00001
|
NM_017946.4(FKBP14):c.136G>T (p.Asp46Tyr)
|
rs750062960
|
0.00001
|
NM_017946.4(FKBP14):c.173A>C (p.Lys58Thr)
|
rs769609634
|
0.00001
|
NM_017946.4(FKBP14):c.233C>T (p.Thr78Ile)
|
rs758100842
|
0.00001
|
NM_017946.4(FKBP14):c.25G>A (p.Val9Ile)
|
rs1198123802
|
0.00001
|
NM_017946.4(FKBP14):c.467C>A (p.Ser156Tyr)
|
rs751708321
|
0.00001
|
NM_017946.4(FKBP14):c.512A>C (p.His171Pro)
|
rs147665999
|
0.00001
|
NM_017946.4(FKBP14):c.619A>C (p.Lys207Gln)
|
rs1281054139
|
0.00001
|
NM_018699.4(PRDM5):c.557T>A (p.Leu186His)
|
rs1251163677
|
0.00001
|
NM_018699.4(PRDM5):c.692C>T (p.Ser231Leu)
|
rs750031024
|
0.00001
|
NM_018699.4(PRDM5):c.705G>C (p.Gln235His)
|
rs145114094
|
0.00001
|
NM_020297.4(ABCC9):c.1013T>C (p.Ile338Thr)
|
rs756300282
|
0.00001
|
NM_020297.4(ABCC9):c.1130T>C (p.Ile377Thr)
|
rs368908490
|
0.00001
|
NM_020297.4(ABCC9):c.1164+4T>C
|
rs201001352
|
0.00001
|
NM_020297.4(ABCC9):c.1381G>C (p.Ala461Pro)
|
rs374535641
|
0.00001
|
NM_020297.4(ABCC9):c.1603T>C (p.Tyr535His)
|
rs397517184
|
0.00001
|
NM_020297.4(ABCC9):c.1817A>C (p.Asn606Thr)
|
rs149229372
|
0.00001
|
NM_020297.4(ABCC9):c.1858C>T (p.Arg620Ter)
|
rs1024095026
|
0.00001
|
NM_020297.4(ABCC9):c.1874C>T (p.Ser625Leu)
|
rs75460545
|
0.00001
|
NM_020297.4(ABCC9):c.1877T>C (p.Leu626Pro)
|
rs1002300338
|
0.00001
|
NM_020297.4(ABCC9):c.1978C>T (p.Arg660Trp)
|
rs760889253
|
0.00001
|
NM_020297.4(ABCC9):c.2045G>A (p.Gly682Asp)
|
rs752106985
|
0.00001
|
NM_020297.4(ABCC9):c.2190C>A (p.His730Gln)
|
rs771887289
|
0.00001
|
NM_020297.4(ABCC9):c.21dup (p.Asn8Ter)
|
rs1264575683
|
0.00001
|
NM_020297.4(ABCC9):c.2222T>C (p.Phe741Ser)
|
rs146944210
|
0.00001
|
NM_020297.4(ABCC9):c.2586C>A (p.Asp862Glu)
|
rs768765531
|
0.00001
|
NM_020297.4(ABCC9):c.3073A>G (p.Asn1025Asp)
|
rs372020861
|
0.00001
|
NM_020297.4(ABCC9):c.3227T>C (p.Ile1076Thr)
|
rs1356591712
|
0.00001
|
NM_020297.4(ABCC9):c.3275T>G (p.Ile1092Ser)
|
rs182158174
|
0.00001
|
NM_020297.4(ABCC9):c.337G>A (p.Val113Ile)
|
rs200723629
|
0.00001
|
NM_020297.4(ABCC9):c.3479T>G (p.Leu1160Arg)
|
rs780799175
|
0.00001
|
NM_020297.4(ABCC9):c.3575C>A (p.Thr1192Asn)
|
rs1475546623
|
0.00001
|
NM_020297.4(ABCC9):c.3893-3C>T
|
rs762931725
|
0.00001
|
NM_020297.4(ABCC9):c.3894T>A (p.Asp1298Glu)
|
rs1411910709
|
0.00001
|
NM_020297.4(ABCC9):c.395A>G (p.Lys132Arg)
|
rs727505161
|
0.00001
|
NM_020297.4(ABCC9):c.3994G>A (p.Val1332Ile)
|
rs200350065
|
0.00001
|
NM_020297.4(ABCC9):c.4309G>T (p.Gly1437Cys)
|
rs1320941493
|
0.00001
|
NM_020297.4(ABCC9):c.437T>A (p.Ile146Asn)
|
rs149325742
|
0.00001
|
NM_020297.4(ABCC9):c.4512+691G>A
|
rs777661095
|
0.00001
|
NM_020297.4(ABCC9):c.49G>A (p.Asp17Asn)
|
rs772070154
|
0.00001
|
NM_020297.4(ABCC9):c.595C>A (p.Pro199Thr)
|
rs1246348470
|
0.00001
|
NM_020297.4(ABCC9):c.971G>A (p.Arg324His)
|
rs886039121
|
0.00001
|
NM_020433.5(JPH2):c.1238A>G (p.Asn413Ser)
|
rs778937072
|
0.00001
|
NM_020433.5(JPH2):c.1240A>G (p.Ile414Val)
|
rs537544755
|
0.00001
|
NM_020433.5(JPH2):c.1247G>T (p.Arg416Leu)
|
rs190802013
|
0.00001
|
NM_020433.5(JPH2):c.1267G>T (p.Ala423Ser)
|
rs753716480
|
0.00001
|
NM_020433.5(JPH2):c.1292C>T (p.Pro431Leu)
|
rs1272859605
|
0.00001
|
NM_020433.5(JPH2):c.1306C>T (p.Arg436Cys)
|
rs1326977511
|
0.00001
|
NM_020433.5(JPH2):c.1364G>A (p.Arg455Gln)
|
rs1216784399
|
0.00001
|
NM_020433.5(JPH2):c.1394C>T (p.Pro465Leu)
|
rs908189174
|
0.00001
|
NM_020433.5(JPH2):c.1436G>T (p.Arg479Leu)
|
rs1229570054
|
0.00001
|
NM_020433.5(JPH2):c.1589C>T (p.Ala530Val)
|
rs754961884
|
0.00001
|
NM_020433.5(JPH2):c.1729G>A (p.Glu577Lys)
|
rs181096982
|
0.00001
|
NM_020433.5(JPH2):c.1750C>A (p.Gln584Lys)
|
rs730880253
|
0.00001
|
NM_020433.5(JPH2):c.1753C>T (p.Pro585Ser)
|
rs745760392
|
0.00001
|
NM_020433.5(JPH2):c.1781C>T (p.Ser594Phe)
|
rs1036911295
|
0.00001
|
NM_020433.5(JPH2):c.1846C>T (p.Arg616Cys)
|
rs543276833
|
0.00001
|
NM_020433.5(JPH2):c.1847G>T (p.Arg616Leu)
|
rs200081425
|
0.00001
|
NM_020433.5(JPH2):c.1948G>A (p.Ala650Thr)
|
rs111319388
|
0.00001
|
NM_020433.5(JPH2):c.1990G>A (p.Ala664Thr)
|
rs886039086
|
0.00001
|
NM_020433.5(JPH2):c.1991C>T (p.Ala664Val)
|
rs766295044
|
0.00001
|
NM_020433.5(JPH2):c.277C>T (p.Arg93Cys)
|
rs747893109
|
0.00001
|
NM_020433.5(JPH2):c.302G>A (p.Ser101Asn)
|
rs1281048375
|
0.00001
|
NM_020433.5(JPH2):c.421T>C (p.Tyr141His)
|
rs387906897
|
0.00001
|
NM_020433.5(JPH2):c.443C>T (p.Pro148Leu)
|
rs772582964
|
0.00001
|
NM_020433.5(JPH2):c.535T>C (p.Ser179Pro)
|
rs1272379812
|
0.00001
|
NM_020433.5(JPH2):c.575C>T (p.Ser192Leu)
|
rs1481973487
|
0.00001
|
NM_020433.5(JPH2):c.611T>G (p.Leu204Arg)
|
rs1369796322
|
0.00001
|
NM_020433.5(JPH2):c.620A>G (p.Asn207Ser)
|
rs976272461
|
0.00001
|
NM_020433.5(JPH2):c.665A>G (p.Gln222Arg)
|
rs766395991
|
0.00001
|
NM_020433.5(JPH2):c.962A>G (p.Asn321Ser)
|
rs373731005
|
0.00001
|
NM_020433.5(JPH2):c.968G>A (p.Arg323His)
|
rs778739555
|
0.00001
|
NM_020778.4(ALPK3):c.140C>A (p.Ala47Glu)
|
rs1369786736
|
0.00001
|
NM_020778.4(ALPK3):c.295C>T (p.Pro99Ser)
|
rs1029763180
|
0.00001
|
NM_020778.4(ALPK3):c.407C>G (p.Ser136Cys)
|
rs1249463407
|
0.00001
|
NM_020778.4(ALPK3):c.492C>T (p.Gly164=)
|
rs1963370785
|
0.00001
|
NM_020778.5(ALPK3):c.-14G>A
|
rs1194445562
|
0.00001
|
NM_020778.5(ALPK3):c.1079C>T (p.Pro360Leu)
|
rs1963647073
|
0.00001
|
NM_020778.5(ALPK3):c.137A>G (p.Glu46Gly)
|
rs775198429
|
0.00001
|
NM_020778.5(ALPK3):c.1562C>G (p.Ser521Cys)
|
rs1963655398
|
0.00001
|
NM_020778.5(ALPK3):c.1574C>T (p.Pro525Leu)
|
rs767048211
|
0.00001
|
NM_020778.5(ALPK3):c.1765G>A (p.Asp589Asn)
|
rs146892833
|
0.00001
|
NM_020778.5(ALPK3):c.182+1G>A
|
rs1963449829
|
0.00001
|
NM_020778.5(ALPK3):c.1846A>G (p.Ile616Val)
|
rs753965640
|
0.00001
|
NM_020778.5(ALPK3):c.1961A>T (p.Asp654Val)
|
rs1027334963
|
0.00001
|
NM_020778.5(ALPK3):c.2134T>G (p.Ser712Ala)
|
rs571389749
|
0.00001
|
NM_020778.5(ALPK3):c.2147C>T (p.Ala716Val)
|
rs779674365
|
0.00001
|
NM_020778.5(ALPK3):c.2230A>G (p.Thr744Ala)
|
rs754504711
|
0.00001
|
NM_020778.5(ALPK3):c.230C>T (p.Pro77Leu)
|
rs372130536
|
0.00001
|
NM_020778.5(ALPK3):c.2426G>A (p.Ser809Asn)
|
rs1220203156
|
0.00001
|
NM_020778.5(ALPK3):c.2536G>C (p.Gly846Arg)
|
rs202153052
|
0.00001
|
NM_020778.5(ALPK3):c.2600T>A (p.Met867Lys)
|
rs376587216
|
0.00001
|
NM_020778.5(ALPK3):c.2657C>T (p.Thr886Ile)
|
rs1275702908
|
0.00001
|
NM_020778.5(ALPK3):c.26G>A (p.Arg9Gln)
|
rs759651543
|
0.00001
|
NM_020778.5(ALPK3):c.2798A>T (p.Glu933Val)
|
rs758445691
|
0.00001
|
NM_020778.5(ALPK3):c.2807G>A (p.Cys936Tyr)
|
rs777884466
|
0.00001
|
NM_020778.5(ALPK3):c.2843G>A (p.Gly948Asp)
|
rs774855948
|
0.00001
|
NM_020778.5(ALPK3):c.2858A>T (p.Asp953Val)
|
rs1393907055
|
0.00001
|
NM_020778.5(ALPK3):c.2906A>C (p.Lys969Thr)
|
rs985027215
|
0.00001
|
NM_020778.5(ALPK3):c.2926A>G (p.Ser976Gly)
|
rs1874204001
|
0.00001
|
NM_020778.5(ALPK3):c.2993C>T (p.Thr998Ile)
|
rs773997314
|
0.00001
|
NM_020778.5(ALPK3):c.3049C>T (p.Arg1017Cys)
|
rs771137848
|
0.00001
|
NM_020778.5(ALPK3):c.3086C>A (p.Thr1029Asn)
|
rs1051437969
|
0.00001
|
NM_020778.5(ALPK3):c.3155G>A (p.Arg1052His)
|
rs980330574
|
0.00001
|
NM_020778.5(ALPK3):c.3161C>G (p.Ala1054Gly)
|
rs1209594795
|
0.00001
|
NM_020778.5(ALPK3):c.3226G>A (p.Val1076Ile)
|
rs751943226
|
0.00001
|
NM_020778.5(ALPK3):c.3374G>A (p.Gly1125Glu)
|
rs748854704
|
0.00001
|
NM_020778.5(ALPK3):c.3451C>T (p.Leu1151Phe)
|
rs779886712
|
0.00001
|
NM_020778.5(ALPK3):c.3490C>T (p.Arg1164Trp)
|
rs779709566
|
0.00001
|
NM_020778.5(ALPK3):c.3532G>A (p.Gly1178Arg)
|
rs377179290
|
0.00001
|
NM_020778.5(ALPK3):c.3737G>A (p.Gly1246Asp)
|
rs1963898743
|
0.00001
|
NM_020778.5(ALPK3):c.3824A>G (p.Gln1275Arg)
|
rs1390037202
|
0.00001
|
NM_020778.5(ALPK3):c.3841C>T (p.Arg1281Trp)
|
rs370816513
|
0.00001
|
NM_020778.5(ALPK3):c.3939G>C (p.Gln1313His)
|
rs935977042
|
0.00001
|
NM_020778.5(ALPK3):c.4034G>A (p.Arg1345Gln)
|
rs768456090
|
0.00001
|
NM_020778.5(ALPK3):c.4165G>A (p.Ala1389Thr)
|
rs765113565
|
0.00001
|
NM_020778.5(ALPK3):c.4174C>G (p.Leu1392Val)
|
rs771958254
|
0.00001
|
NM_020778.5(ALPK3):c.4193G>T (p.Trp1398Leu)
|
rs756411505
|
0.00001
|
NM_020778.5(ALPK3):c.4307T>A (p.Phe1436Tyr)
|
rs373233818
|
0.00001
|
NM_020778.5(ALPK3):c.4394A>G (p.Tyr1465Cys)
|
rs771616717
|
0.00001
|
NM_020778.5(ALPK3):c.4429A>G (p.Met1477Val)
|
rs373576199
|
0.00001
|
NM_020778.5(ALPK3):c.4431G>A (p.Met1477Ile)
|
rs1473386110
|
0.00001
|
NM_020778.5(ALPK3):c.4468C>T (p.Arg1490Trp)
|
rs376691515
|
0.00001
|
NM_020778.5(ALPK3):c.4475C>T (p.Ala1492Val)
|
rs538810746
|
0.00001
|
NM_020778.5(ALPK3):c.461C>T (p.Ala154Val)
|
rs913849174
|
0.00001
|
NM_020778.5(ALPK3):c.4622C>T (p.Pro1541Leu)
|
rs767340370
|
0.00001
|
NM_020778.5(ALPK3):c.4769G>A (p.Arg1590Gln)
|
rs1432141737
|
0.00001
|
NM_020778.5(ALPK3):c.4940G>A (p.Arg1647Lys)
|
rs772672818
|
0.00001
|
NM_020778.5(ALPK3):c.5096C>T (p.Ser1699Phe)
|
rs770515435
|
0.00001
|
NM_020778.5(ALPK3):c.5100G>C (p.Lys1700Asn)
|
rs1010741163
|
0.00001
|
NM_020778.5(ALPK3):c.512C>A (p.Thr171Asn)
|
rs774567371
|
0.00001
|
NM_020778.5(ALPK3):c.560G>T (p.Arg187Leu)
|
rs1314564648
|
0.00001
|
NM_020778.5(ALPK3):c.59G>A (p.Gly20Glu)
|
rs1403282196
|
0.00001
|
NM_020778.5(ALPK3):c.677G>A (p.Arg226Gln)
|
rs755804498
|
0.00001
|
NM_020778.5(ALPK3):c.703C>A (p.Pro235Thr)
|
rs1238212189
|
0.00001
|
NM_020778.5(ALPK3):c.899T>A (p.Met300Lys)
|
rs1283338715
|
0.00001
|
NM_020778.5(ALPK3):c.945G>C (p.Lys315Asn)
|
rs970840303
|
0.00001
|
NM_021167.5(GATAD1):c.151G>T (p.Gly51Trp)
|
rs1320172026
|
0.00001
|
NM_021167.5(GATAD1):c.308C>T (p.Ala103Val)
|
rs374329900
|
0.00001
|
NM_021167.5(GATAD1):c.431A>G (p.Tyr144Cys)
|
rs200584566
|
0.00001
|
NM_021167.5(GATAD1):c.515G>C (p.Gly172Ala)
|
rs1237515001
|
0.00001
|
NM_021167.5(GATAD1):c.611A>G (p.Tyr204Cys)
|
rs922487847
|
0.00001
|
NM_022436.3(ABCG5):c.1049C>T (p.Thr350Met)
|
rs148131742
|
0.00001
|
NM_022436.3(ABCG5):c.1196T>G (p.Phe399Cys)
|
rs1369215333
|
0.00001
|
NM_022436.3(ABCG5):c.1366G>A (p.Gly456Ser)
|
rs200378113
|
0.00001
|
NM_022436.3(ABCG5):c.281C>G (p.Thr94Arg)
|
rs558993616
|
0.00001
|
NM_022436.3(ABCG5):c.642G>A (p.Met214Ile)
|
rs1369776473
|
0.00001
|
NM_022436.3(ABCG5):c.940C>T (p.Arg314Trp)
|
rs142971825
|
0.00001
|
NM_022436.3(ABCG5):c.941G>A (p.Arg314Gln)
|
rs544541406
|
0.00001
|
NM_022436.3(ABCG5):c.975A>G (p.Ile325Met)
|
rs1296464024
|
0.00001
|
NM_022437.3(ABCG8):c.1117T>C (p.Cys373Arg)
|
rs554680915
|
0.00001
|
NM_022437.3(ABCG8):c.1202C>T (p.Thr401Met)
|
rs776792168
|
0.00001
|
NM_022437.3(ABCG8):c.1366G>A (p.Gly456Ser)
|
rs1367618593
|
0.00001
|
NM_022437.3(ABCG8):c.1385A>G (p.Asn462Ser)
|
rs769333089
|
0.00001
|
NM_022437.3(ABCG8):c.1513T>C (p.Cys505Arg)
|
rs1020921571
|
0.00001
|
NM_022437.3(ABCG8):c.1691A>G (p.Asn564Ser)
|
rs749742502
|
0.00001
|
NM_022437.3(ABCG8):c.1762G>A (p.Ala588Thr)
|
rs748833010
|
0.00001
|
NM_022437.3(ABCG8):c.176C>A (p.Ala59Asp)
|
rs749036339
|
0.00001
|
NM_022437.3(ABCG8):c.593G>T (p.Arg198Met)
|
rs777258651
|
0.00001
|
NM_022437.3(ABCG8):c.64G>A (p.Gly22Ser)
|
rs373228989
|
0.00001
|
NM_022437.3(ABCG8):c.710A>T (p.Asp237Val)
|
rs1163985023
|
0.00001
|
NM_022773.4(LMF1):c.373A>C (p.Asn125His)
|
rs1323912190
|
0.00001
|
NM_024301.5(FKRP):c.-2C>A
|
rs781231882
|
0.00001
|
NM_024301.5(FKRP):c.1019A>T (p.Tyr340Phe)
|
rs1322997651
|
0.00001
|
NM_024301.5(FKRP):c.1054C>T (p.Arg352Cys)
|
rs751676482
|
0.00001
|
NM_024301.5(FKRP):c.1061G>A (p.Gly354Glu)
|
rs781414509
|
0.00001
|
NM_024301.5(FKRP):c.1117G>A (p.Gly373Ser)
|
rs1184684815
|
0.00001
|
NM_024301.5(FKRP):c.1192G>A (p.Val398Ile)
|
rs1471167981
|
0.00001
|
NM_024301.5(FKRP):c.1271A>G (p.Asn424Ser)
|
rs376989573
|
0.00001
|
NM_024301.5(FKRP):c.1352C>T (p.Pro451Leu)
|
rs886044542
|
0.00001
|
NM_024301.5(FKRP):c.1363G>T (p.Ala455Ser)
|
rs747785577
|
0.00001
|
NM_024301.5(FKRP):c.1397G>A (p.Arg466His)
|
rs763422045
|
0.00001
|
NM_024301.5(FKRP):c.1482C>A (p.Ser494Arg)
|
rs373244438
|
0.00001
|
NM_024301.5(FKRP):c.205T>C (p.Ser69Pro)
|
rs990847012
|
0.00001
|
NM_024301.5(FKRP):c.22G>A (p.Ala8Thr)
|
rs1178928336
|
0.00001
|
NM_024301.5(FKRP):c.283C>T (p.Arg95Cys)
|
rs767399675
|
0.00001
|
NM_024301.5(FKRP):c.315G>T (p.Gln105His)
|
rs765444642
|
0.00001
|
NM_024301.5(FKRP):c.316C>T (p.Pro106Ser)
|
rs1164727838
|
0.00001
|
NM_024301.5(FKRP):c.32C>T (p.Ala11Val)
|
rs760295001
|
0.00001
|
NM_024301.5(FKRP):c.442C>A (p.Leu148Ile)
|
rs1599935206
|
0.00001
|
NM_024301.5(FKRP):c.517G>A (p.Val173Ile)
|
rs1322879846
|
0.00001
|
NM_024301.5(FKRP):c.551C>T (p.Ala184Val)
|
rs1489408026
|
0.00001
|
NM_024301.5(FKRP):c.794G>T (p.Arg265Leu)
|
rs1320991574
|
0.00001
|
NM_024301.5(FKRP):c.845G>C (p.Gly282Ala)
|
rs775795075
|
0.00001
|
NM_024301.5(FKRP):c.976G>A (p.Ala326Thr)
|
rs1201873802
|
0.00001
|
NM_024334.3(TMEM43):c.1090G>A (p.Val364Met)
|
rs754236206
|
0.00001
|
NM_024334.3(TMEM43):c.1177C>T (p.Arg393Trp)
|
rs765762863
|
0.00001
|
NM_024334.3(TMEM43):c.167G>A (p.Arg56His)
|
rs747164382
|
0.00001
|
NM_024334.3(TMEM43):c.182C>G (p.Ala61Gly)
|
rs1225730180
|
0.00001
|
NM_024334.3(TMEM43):c.208C>T (p.Leu70Phe)
|
rs577359875
|
0.00001
|
NM_024334.3(TMEM43):c.235A>G (p.Ser79Gly)
|
rs930770110
|
0.00001
|
NM_024334.3(TMEM43):c.244C>G (p.Pro82Ala)
|
rs148171303
|
0.00001
|
NM_024334.3(TMEM43):c.275T>C (p.Ile92Thr)
|
rs555913548
|
0.00001
|
NM_024334.3(TMEM43):c.344T>C (p.Leu115Pro)
|
rs376182664
|
0.00001
|
NM_024334.3(TMEM43):c.380C>T (p.Thr127Ile)
|
rs754381041
|
0.00001
|
NM_024334.3(TMEM43):c.401C>A (p.Thr134Asn)
|
rs778405877
|
0.00001
|
NM_024334.3(TMEM43):c.500A>G (p.His167Arg)
|
rs775986881
|
0.00001
|
NM_024334.3(TMEM43):c.515C>T (p.Ala172Val)
|
rs553757132
|
0.00001
|
NM_024334.3(TMEM43):c.606del (p.Phe203fs)
|
rs753024549
|
0.00001
|
NM_024334.3(TMEM43):c.646G>A (p.Val216Met)
|
rs143735210
|
0.00001
|
NM_024334.3(TMEM43):c.659G>A (p.Arg220His)
|
rs570836197
|
0.00001
|
NM_024334.3(TMEM43):c.704A>C (p.Glu235Ala)
|
rs751419150
|
0.00001
|
NM_024334.3(TMEM43):c.705+5G>T
|
rs754716462
|
0.00001
|
NM_024334.3(TMEM43):c.751G>A (p.Asp251Asn)
|
rs375481688
|
0.00001
|
NM_024334.3(TMEM43):c.973C>T (p.Leu325Phe)
|
rs373644386
|
0.00001
|
NM_024334.3(TMEM43):c.983G>A (p.Arg328Gln)
|
rs185611706
|
0.00001
|
NM_024422.6(DSC2):c.1024A>G (p.Ile342Val)
|
rs746745677
|
0.00001
|
NM_024422.6(DSC2):c.1057C>A (p.Pro353Thr)
|
rs999869714
|
0.00001
|
NM_024422.6(DSC2):c.1103C>T (p.Thr368Ile)
|
rs538663626
|
0.00001
|
NM_024422.6(DSC2):c.1124G>A (p.Arg375Gln)
|
rs770412621
|
0.00001
|
NM_024422.6(DSC2):c.1172C>A (p.Ala391Asp)
|
rs1300215880
|
0.00001
|
NM_024422.6(DSC2):c.133G>A (p.Ala45Thr)
|
rs1467311353
|
0.00001
|
NM_024422.6(DSC2):c.1402G>A (p.Gly468Ser)
|
rs149316362
|
0.00001
|
NM_024422.6(DSC2):c.1435C>T (p.Arg479Cys)
|
rs138761522
|
0.00001
|
NM_024422.6(DSC2):c.1438A>C (p.Met480Leu)
|
rs370616107
|
0.00001
|
NM_024422.6(DSC2):c.1469G>A (p.Ser490Asn)
|
rs780446276
|
0.00001
|
NM_024422.6(DSC2):c.14G>T (p.Arg5Leu)
|
rs899009158
|
0.00001
|
NM_024422.6(DSC2):c.1547G>A (p.Gly516Glu)
|
rs1402893994
|
0.00001
|
NM_024422.6(DSC2):c.1577C>T (p.Ser526Leu)
|
rs887847751
|
0.00001
|
NM_024422.6(DSC2):c.1579A>G (p.Ile527Val)
|
rs756058875
|
0.00001
|
NM_024422.6(DSC2):c.1628G>A (p.Gly543Asp)
|
rs977709312
|
0.00001
|
NM_024422.6(DSC2):c.1712A>G (p.Asn571Ser)
|
rs1462605063
|
0.00001
|
NM_024422.6(DSC2):c.1760C>T (p.Pro587Leu)
|
rs761123301
|
0.00001
|
NM_024422.6(DSC2):c.1781T>C (p.Ile594Thr)
|
rs915888072
|
0.00001
|
NM_024422.6(DSC2):c.1906T>G (p.Ser636Ala)
|
rs1191039477
|
0.00001
|
NM_024422.6(DSC2):c.1916A>G (p.Asn639Ser)
|
rs369281243
|
0.00001
|
NM_024422.6(DSC2):c.1996G>A (p.Val666Ile)
|
rs758646191
|
0.00001
|
NM_024422.6(DSC2):c.2039G>T (p.Arg680Leu)
|
rs374002111
|
0.00001
|
NM_024422.6(DSC2):c.2147G>C (p.Cys716Ser)
|
rs764008863
|
0.00001
|
NM_024422.6(DSC2):c.2158G>C (p.Gly720Arg)
|
rs1170934513
|
0.00001
|
NM_024422.6(DSC2):c.2231C>T (p.Ala744Val)
|
rs758269321
|
0.00001
|
NM_024422.6(DSC2):c.2258C>T (p.Ala753Val)
|
rs1217851416
|
0.00001
|
NM_024422.6(DSC2):c.2318G>C (p.Gly773Ala)
|
rs749174176
|
0.00001
|
NM_024422.6(DSC2):c.2328C>G (p.Ile776Met)
|
rs1789054
|
0.00001
|
NM_024422.6(DSC2):c.2353G>A (p.Glu785Lys)
|
rs752873618
|
0.00001
|
NM_024422.6(DSC2):c.2354A>G (p.Glu785Gly)
|
rs769747496
|
0.00001
|
NM_024422.6(DSC2):c.2408A>G (p.His803Arg)
|
rs150124218
|
0.00001
|
NM_024422.6(DSC2):c.2472G>A (p.Ser824=)
|
rs374348925
|
0.00001
|
NM_024422.6(DSC2):c.2512G>A (p.Val838Met)
|
rs1986695514
|
0.00001
|
NM_024422.6(DSC2):c.2623C>T (p.Arg875Ter)
|
rs727504823
|
0.00001
|
NM_024422.6(DSC2):c.2642T>A (p.Leu881His)
|
rs1231247825
|
0.00001
|
NM_024422.6(DSC2):c.267G>A (p.Ser89=)
|
rs201363937
|
0.00001
|
NM_024422.6(DSC2):c.2692T>C (p.Cys898Arg)
|
rs1027240725
|
0.00001
|
NM_024422.6(DSC2):c.325A>C (p.Ile109Leu)
|
rs1256252633
|
0.00001
|
NM_024422.6(DSC2):c.355-3G>T
|
rs975997446
|
0.00001
|
NM_024422.6(DSC2):c.363G>T (p.Lys121Asn)
|
rs762877422
|
0.00001
|
NM_024422.6(DSC2):c.425G>C (p.Cys142Ser)
|
rs1478081073
|
0.00001
|
NM_024422.6(DSC2):c.47G>A (p.Arg16Gln)
|
rs869025386
|
0.00001
|
NM_024422.6(DSC2):c.488C>T (p.Thr163Met)
|
rs758759298
|
0.00001
|
NM_024422.6(DSC2):c.517A>T (p.Ile173Leu)
|
rs766855728
|
0.00001
|
NM_024422.6(DSC2):c.697A>G (p.Ile233Val)
|
rs886039077
|
0.00001
|
NM_024422.6(DSC2):c.746C>A (p.Thr249Asn)
|
rs1987447409
|
0.00001
|
NM_024422.6(DSC2):c.769A>G (p.Arg257Gly)
|
rs1253861748
|
0.00001
|
NM_024422.6(DSC2):c.872C>T (p.Ser291Leu)
|
rs755952123
|
0.00001
|
NM_024422.6(DSC2):c.949G>A (p.Asp317Asn)
|
rs769219956
|
0.00001
|
NM_030662.4(MAP2K2):c.1039A>G (p.Asn347Asp)
|
rs1057518088
|
0.00001
|
NM_030662.4(MAP2K2):c.1061C>T (p.Pro354Leu)
|
rs879819202
|
0.00001
|
NM_030662.4(MAP2K2):c.1064C>T (p.Ala355Val)
|
rs768826287
|
0.00001
|
NM_030662.4(MAP2K2):c.26T>C (p.Leu9Pro)
|
rs758307267
|
0.00001
|
NM_030662.4(MAP2K2):c.707C>T (p.Pro236Leu)
|
rs1309234276
|
0.00001
|
NM_030662.4(MAP2K2):c.814G>A (p.Ala272Thr)
|
rs757240576
|
0.00001
|
NM_030662.4(MAP2K2):c.937C>T (p.Arg313Trp)
|
rs772831628
|
0.00001
|
NM_030777.4(SLC2A10):c.1087C>G (p.Gln363Glu)
|
rs886038934
|
0.00001
|
NM_030777.4(SLC2A10):c.1274T>C (p.Phe425Ser)
|
rs546176728
|
0.00001
|
NM_032578.4(MYPN):c.1019C>G (p.Ser340Cys)
|
rs777080663
|
0.00001
|
NM_032578.4(MYPN):c.1081G>T (p.Val361Phe)
|
rs527628617
|
0.00001
|
NM_032578.4(MYPN):c.1109C>T (p.Pro370Leu)
|
rs749986338
|
0.00001
|
NM_032578.4(MYPN):c.121C>T (p.Pro41Ser)
|
rs759400657
|
0.00001
|
NM_032578.4(MYPN):c.1306G>A (p.Val436Met)
|
rs1172083148
|
0.00001
|
NM_032578.4(MYPN):c.133G>C (p.Gly45Arg)
|
rs1297861595
|
0.00001
|
NM_032578.4(MYPN):c.1452A>C (p.Leu484Phe)
|
rs749716693
|
0.00001
|
NM_032578.4(MYPN):c.1550C>A (p.Ala517Glu)
|
rs1052323892
|
0.00001
|
NM_032578.4(MYPN):c.1555A>G (p.Asn519Asp)
|
rs768901494
|
0.00001
|
NM_032578.4(MYPN):c.1594G>A (p.Val532Met)
|
rs760362375
|
0.00001
|
NM_032578.4(MYPN):c.1609G>T (p.Asp537Tyr)
|
rs745748075
|
0.00001
|
NM_032578.4(MYPN):c.1672C>T (p.Pro558Ser)
|
rs767709261
|
0.00001
|
NM_032578.4(MYPN):c.1681T>C (p.Ser561Pro)
|
rs1554845447
|
0.00001
|
NM_032578.4(MYPN):c.1696G>C (p.Glu566Gln)
|
rs1388806519
|
0.00001
|
NM_032578.4(MYPN):c.1771A>G (p.Ser591Gly)
|
rs767800921
|
0.00001
|
NM_032578.4(MYPN):c.1879T>A (p.Ser627Thr)
|
rs1282443178
|
0.00001
|
NM_032578.4(MYPN):c.1880C>T (p.Ser627Phe)
|
rs762100810
|
0.00001
|
NM_032578.4(MYPN):c.1918C>T (p.Pro640Ser)
|
rs908222513
|
0.00001
|
NM_032578.4(MYPN):c.2000A>G (p.His667Arg)
|
rs2043186027
|
0.00001
|
NM_032578.4(MYPN):c.2114C>T (p.Thr705Ile)
|
rs768471574
|
0.00001
|
NM_032578.4(MYPN):c.212A>G (p.Glu71Gly)
|
rs1161067131
|
0.00001
|
NM_032578.4(MYPN):c.2134G>C (p.Ala712Pro)
|
rs876657921
|
0.00001
|
NM_032578.4(MYPN):c.2200G>A (p.Ala734Thr)
|
rs927839092
|
0.00001
|
NM_032578.4(MYPN):c.2221A>G (p.Ser741Gly)
|
rs2043191140
|
0.00001
|
NM_032578.4(MYPN):c.2420T>C (p.Phe807Ser)
|
rs760419556
|
0.00001
|
NM_032578.4(MYPN):c.2465G>A (p.Arg822Gln)
|
rs372903698
|
0.00001
|
NM_032578.4(MYPN):c.2497G>A (p.Val833Ile)
|
rs1406084738
|
0.00001
|
NM_032578.4(MYPN):c.2515G>A (p.Ala839Thr)
|
rs752773452
|
0.00001
|
NM_032578.4(MYPN):c.2570C>T (p.Ser857Phe)
|
rs376431940
|
0.00001
|
NM_032578.4(MYPN):c.2629C>T (p.Arg877Cys)
|
rs764042082
|
0.00001
|
NM_032578.4(MYPN):c.271G>A (p.Ala91Thr)
|
rs763043084
|
0.00001
|
NM_032578.4(MYPN):c.2764C>T (p.Arg922Cys)
|
rs759367436
|
0.00001
|
NM_032578.4(MYPN):c.2802T>A (p.His934Gln)
|
rs752426180
|
0.00001
|
NM_032578.4(MYPN):c.2834C>T (p.Pro945Leu)
|
rs1477487826
|
0.00001
|
NM_032578.4(MYPN):c.2981T>C (p.Met994Thr)
|
rs786205348
|
0.00001
|
NM_032578.4(MYPN):c.3017T>G (p.Ile1006Ser)
|
rs864622711
|
0.00001
|
NM_032578.4(MYPN):c.3040G>A (p.Asp1014Asn)
|
rs769591145
|
0.00001
|
NM_032578.4(MYPN):c.3060G>A (p.Met1020Ile)
|
rs762642659
|
0.00001
|
NM_032578.4(MYPN):c.3086G>T (p.Ser1029Ile)
|
rs142320290
|
0.00001
|
NM_032578.4(MYPN):c.3110A>G (p.Gln1037Arg)
|
rs794729074
|
0.00001
|
NM_032578.4(MYPN):c.3136A>C (p.Thr1046Pro)
|
rs374007615
|
0.00001
|
NM_032578.4(MYPN):c.3159-3T>C
|
rs778831883
|
0.00001
|
NM_032578.4(MYPN):c.342G>C (p.Glu114Asp)
|
rs1271454652
|
0.00001
|
NM_032578.4(MYPN):c.3433A>C (p.Lys1145Gln)
|
rs768125215
|
0.00001
|
NM_032578.4(MYPN):c.3457G>A (p.Gly1153Arg)
|
rs763805681
|
0.00001
|
NM_032578.4(MYPN):c.3544G>A (p.Gly1182Ser)
|
rs777875865
|
0.00001
|
NM_032578.4(MYPN):c.3565G>A (p.Val1189Met)
|
rs776313364
|
0.00001
|
NM_032578.4(MYPN):c.3593T>C (p.Met1198Thr)
|
rs755560876
|
0.00001
|
NM_032578.4(MYPN):c.35T>C (p.Ile12Thr)
|
rs869025490
|
0.00001
|
NM_032578.4(MYPN):c.3623A>G (p.Asp1208Gly)
|
rs2043722325
|
0.00001
|
NM_032578.4(MYPN):c.3654G>C (p.Arg1218Ser)
|
rs781011786
|
0.00001
|
NM_032578.4(MYPN):c.3734C>T (p.Thr1245Met)
|
rs139138260
|
0.00001
|
NM_032578.4(MYPN):c.3757G>A (p.Gly1253Ser)
|
rs1208726312
|
0.00001
|
NM_032578.4(MYPN):c.3853G>A (p.Gly1285Arg)
|
rs750277122
|
0.00001
|
NM_032578.4(MYPN):c.3922T>C (p.Ser1308Pro)
|
rs1279126604
|
0.00001
|
NM_032578.4(MYPN):c.3959T>C (p.Leu1320Pro)
|
rs200646285
|
0.00001
|
NM_032578.4(MYPN):c.411G>C (p.Arg137Ser)
|
rs751085897
|
0.00001
|
NM_032578.4(MYPN):c.47T>C (p.Leu16Pro)
|
rs1241418398
|
0.00001
|
NM_032578.4(MYPN):c.611A>G (p.Glu204Gly)
|
rs373095593
|
0.00001
|
NM_032578.4(MYPN):c.712G>A (p.Ala238Thr)
|
rs755212697
|
0.00001
|
NM_032578.4(MYPN):c.725C>T (p.Ala242Val)
|
rs1232532993
|
0.00001
|
NM_032578.4(MYPN):c.809G>T (p.Arg270Leu)
|
rs1187626834
|
0.00001
|
NM_032578.4(MYPN):c.80G>C (p.Arg27Pro)
|
rs529359915
|
0.00001
|
NM_032578.4(MYPN):c.827G>A (p.Arg276Gln)
|
rs771703762
|
0.00001
|
NM_032578.4(MYPN):c.844G>A (p.Glu282Lys)
|
rs1265232754
|
0.00001
|
NM_032578.4(MYPN):c.859C>A (p.Gln287Lys)
|
rs2042258039
|
0.00001
|
NM_033337.3(CAV3):c.143C>G (p.Pro48Arg)
|
rs1060502317
|
0.00001
|
NM_033337.3(CAV3):c.165del (p.Asp55fs)
|
rs780411707
|
0.00001
|
NM_033337.3(CAV3):c.260T>C (p.Leu87Pro)
|
rs28936685
|
0.00001
|
NM_033337.3(CAV3):c.65T>C (p.Ile22Thr)
|
rs763666060
|
0.00001
|
NM_033337.3(CAV3):c.88A>T (p.Lys30Ter)
|
rs730880425
|
0.00001
|
NM_033337.3(CAV3):c.89A>G (p.Lys30Arg)
|
rs753431407
|
0.00001
|
NM_130468.4(CHST14):c.325C>T (p.Arg109Trp)
|
rs201632751
|
0.00001
|
NM_130468.4(CHST14):c.439T>C (p.Tyr147His)
|
rs775350610
|
0.00001
|
NM_130468.4(CHST14):c.548A>G (p.Asp183Gly)
|
rs1595869476
|
0.00001
|
NM_130468.4(CHST14):c.8C>T (p.Pro3Leu)
|
rs1389417786
|
0.00001
|
NM_130468.4(CHST14):c.919A>G (p.Asn307Asp)
|
rs767533841
|
0.00001
|
NM_130468.4(CHST14):c.922C>A (p.Gln308Lys)
|
rs373443856
|
0.00001
|
NM_144573.4(NEXN):c.1171C>T (p.Arg391Ter)
|
rs200106758
|
0.00001
|
NM_144573.4(NEXN):c.1222T>C (p.Phe408Leu)
|
rs794729083
|
0.00001
|
NM_144573.4(NEXN):c.1234A>G (p.Arg412Gly)
|
rs768693715
|
0.00001
|
NM_144573.4(NEXN):c.1244T>C (p.Met415Thr)
|
rs1172366391
|
0.00001
|
NM_144573.4(NEXN):c.1271C>T (p.Thr424Ile)
|
rs200442502
|
0.00001
|
NM_144573.4(NEXN):c.1411C>T (p.Arg471Ter)
|
rs777418673
|
0.00001
|
NM_144573.4(NEXN):c.1415C>G (p.Ala472Gly)
|
rs539665448
|
0.00001
|
NM_144573.4(NEXN):c.1430T>C (p.Ile477Thr)
|
rs727504658
|
0.00001
|
NM_144573.4(NEXN):c.1432G>A (p.Asp478Asn)
|
rs1309129145
|
0.00001
|
NM_144573.4(NEXN):c.1498G>T (p.Ala500Ser)
|
rs1193200803
|
0.00001
|
NM_144573.4(NEXN):c.1508G>A (p.Ser503Asn)
|
rs1368415456
|
0.00001
|
NM_144573.4(NEXN):c.1528A>G (p.Lys510Glu)
|
rs727504758
|
0.00001
|
NM_144573.4(NEXN):c.1640T>C (p.Ile547Thr)
|
rs753636624
|
0.00001
|
NM_144573.4(NEXN):c.1642G>A (p.Asp548Asn)
|
rs1404772841
|
0.00001
|
NM_144573.4(NEXN):c.1664_1666del (p.Arg555_Glu556delinsLys)
|
rs1221963637
|
0.00001
|
NM_144573.4(NEXN):c.1720G>A (p.Glu574Lys)
|
rs756408591
|
0.00001
|
NM_144573.4(NEXN):c.1747T>C (p.Trp583Arg)
|
rs1223656449
|
0.00001
|
NM_144573.4(NEXN):c.1771A>G (p.Thr591Ala)
|
rs369019618
|
0.00001
|
NM_144573.4(NEXN):c.1805C>T (p.Thr602Met)
|
rs756709134
|
0.00001
|
NM_144573.4(NEXN):c.1859A>G (p.Glu620Gly)
|
rs748404504
|
0.00001
|
NM_144573.4(NEXN):c.185T>A (p.Ile62Asn)
|
rs755012232
|
0.00001
|
NM_144573.4(NEXN):c.1889A>G (p.Tyr630Cys)
|
rs769713624
|
0.00001
|
NM_144573.4(NEXN):c.1981G>A (p.Gly661Arg)
|
rs876657929
|
0.00001
|
NM_144573.4(NEXN):c.2005C>T (p.Leu669Phe)
|
rs774194309
|
0.00001
|
NM_144573.4(NEXN):c.2019T>A (p.Ser673Arg)
|
rs539689450
|
0.00001
|
NM_144573.4(NEXN):c.328G>C (p.Glu110Gln)
|
rs754671609
|
0.00001
|
NM_144573.4(NEXN):c.542C>T (p.Thr181Ile)
|
rs764640427
|
0.00001
|
NM_144573.4(NEXN):c.620A>G (p.Asp207Gly)
|
rs570946423
|
0.00001
|
NM_144573.4(NEXN):c.626G>T (p.Arg209Ile)
|
rs1433269866
|
0.00001
|
NM_144573.4(NEXN):c.797C>G (p.Ala266Gly)
|
rs1442572797
|
0.00001
|
NM_144573.4(NEXN):c.906T>A (p.Phe302Leu)
|
rs767740199
|
0.00001
|
NM_144573.4(NEXN):c.916C>T (p.Arg306Cys)
|
rs765051104
|
0.00001
|
NM_144573.4(NEXN):c.917G>A (p.Arg306His)
|
rs758055856
|
0.00001
|
NM_152594.3(SPRED1):c.1085G>A (p.Cys362Tyr)
|
rs1255579349
|
0.00001
|
NM_152594.3(SPRED1):c.1301G>T (p.Gly434Val)
|
rs746414913
|
0.00001
|
NM_152594.3(SPRED1):c.170A>G (p.Asp57Gly)
|
rs959758606
|
0.00001
|
NM_152594.3(SPRED1):c.353G>A (p.Arg118Lys)
|
rs373381933
|
0.00001
|
NM_152594.3(SPRED1):c.43G>A (p.Ala15Thr)
|
rs753924528
|
0.00001
|
NM_152594.3(SPRED1):c.578A>G (p.Asn193Ser)
|
rs766431294
|
0.00001
|
NM_152594.3(SPRED1):c.6C>A (p.Ser2Arg)
|
rs775693385
|
0.00001
|
NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp)
|
rs749784223
|
0.00001
|
NM_170707.4(LMNA):c.1184C>T (p.Ser395Leu)
|
rs267607561
|
0.00001
|
NM_170707.4(LMNA):c.1195C>T (p.Arg399Cys)
|
rs58672172
|
0.00001
|
NM_170707.4(LMNA):c.1231G>T (p.Gly411Cys)
|
rs727504852
|
0.00001
|
NM_170707.4(LMNA):c.1262T>C (p.Leu421Pro)
|
rs267607564
|
0.00001
|
NM_170707.4(LMNA):c.1270A>G (p.Thr424Ala)
|
rs1166140426
|
0.00001
|
NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys)
|
rs150840924
|
0.00001
|
NM_170707.4(LMNA):c.1306A>G (p.Thr436Ala)
|
rs876657849
|
0.00001
|
NM_170707.4(LMNA):c.1315C>T (p.Arg439Cys)
|
rs62636506
|
0.00001
|
NM_170707.4(LMNA):c.1364G>A (p.Arg455His)
|
rs267607597
|
0.00001
|
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met)
|
rs200466188
|
0.00001
|
NM_170707.4(LMNA):c.1600A>T (p.Thr534Ser)
|
rs1311820114
|
0.00001
|
NM_170707.4(LMNA):c.1601C>G (p.Thr534Ser)
|
rs144740174
|
0.00001
|
NM_170707.4(LMNA):c.1750C>T (p.Arg584Cys)
|
rs578193315
|
0.00001
|
NM_170707.4(LMNA):c.1751G>A (p.Arg584His)
|
rs56657623
|
0.00001
|
NM_170707.4(LMNA):c.1774G>A (p.Gly592Arg)
|
rs786205448
|
0.00001
|
NM_170707.4(LMNA):c.1814C>T (p.Ala605Val)
|
rs1651866275
|
0.00001
|
NM_170707.4(LMNA):c.1825G>A (p.Gly609Arg)
|
rs397517898
|
0.00001
|
NM_170707.4(LMNA):c.1867A>G (p.Thr623Ala)
|
rs757888891
|
0.00001
|
NM_170707.4(LMNA):c.187A>C (p.Ile63Leu)
|
rs899373360
|
0.00001
|
NM_170707.4(LMNA):c.191C>A (p.Thr64Asn)
|
rs753191587
|
0.00001
|
NM_170707.4(LMNA):c.23G>A (p.Arg8His)
|
rs1329278578
|
0.00001
|
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln)
|
rs60864230
|
0.00001
|
NM_170707.4(LMNA):c.448A>G (p.Thr150Ala)
|
rs58917027
|
0.00001
|
NM_170707.4(LMNA):c.466C>T (p.Arg156Cys)
|
rs760743233
|
0.00001
|
NM_170707.4(LMNA):c.496C>T (p.Arg166Trp)
|
rs370200334
|
0.00001
|
NM_170707.4(LMNA):c.565C>T (p.Arg189Trp)
|
rs267607626
|
0.00001
|
NM_170707.4(LMNA):c.632A>G (p.Tyr211Cys)
|
rs987157491
|
0.00001
|
NM_170707.4(LMNA):c.659G>A (p.Arg220His)
|
rs780066296
|
0.00001
|
NM_170707.4(LMNA):c.662G>A (p.Arg221His)
|
rs372567202
|
0.00001
|
NM_170707.4(LMNA):c.718C>T (p.Arg240Trp)
|
rs775964460
|
0.00001
|
NM_170707.4(LMNA):c.71C>T (p.Thr24Ile)
|
rs1195524446
|
0.00001
|
NM_170707.4(LMNA):c.749C>T (p.Ala250Val)
|
rs397517907
|
0.00001
|
NM_170707.4(LMNA):c.845G>A (p.Ser282Asn)
|
rs1553265438
|
0.00001
|
NM_170707.4(LMNA):c.952G>A (p.Ala318Thr)
|
rs267607574
|
0.00001
|
NM_170707.4(LMNA):c.991C>T (p.Arg331Trp)
|
rs879253898
|
0.00001
|
NM_172201.2(KCNE2):c.17A>G (p.Asn6Ser)
|
rs776661633
|
0.00001
|
NM_172201.2(KCNE2):c.242A>G (p.Asn81Ser)
|
rs1434304789
|
0.00001
|
NM_172201.2(KCNE2):c.357C>A (p.Phe119Leu)
|
rs139202426
|
0.00001
|
NM_172201.2(KCNE2):c.372A>G (p.Ter124Trp)
|
rs1305783893
|
0.00001
|
NM_174934.4(SCN4B):c.115A>G (p.Thr39Ala)
|
rs756210130
|
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.40T>G (p.Trp14Gly)
|
rs946169910
|
0.00001
|
NM_174934.4(SCN4B):c.433G>A (p.Ala145Thr)
|
rs771504011
|
0.00001
|
NM_174934.4(SCN4B):c.454G>A (p.Val152Ile)
|
rs778247172
|
0.00001
|
NM_174934.4(SCN4B):c.649G>T (p.Gly217Cys)
|
rs371609756
|
0.00001
|
NM_174936.4(PCSK9):c.100G>A (p.Glu34Lys)
|
rs371030381
|
0.00001
|
NM_174936.4(PCSK9):c.103G>T (p.Asp35Tyr)
|
rs764603059
|
0.00001
|
NM_174936.4(PCSK9):c.1169C>T (p.Ala390Val)
|
rs1313288327
|
0.00001
|
NM_174936.4(PCSK9):c.1211C>T (p.Pro404Leu)
|
rs140072072
|
0.00001
|
NM_174936.4(PCSK9):c.1371C>G (p.Cys457Trp)
|
rs771108863
|
0.00001
|
NM_174936.4(PCSK9):c.1406G>A (p.Arg469Gln)
|
rs1340689002
|
0.00001
|
NM_174936.4(PCSK9):c.1426C>T (p.Arg476Cys)
|
rs761767572
|
0.00001
|
NM_174936.4(PCSK9):c.1475G>C (p.Ser492Thr)
|
rs537114569
|
0.00001
|
NM_174936.4(PCSK9):c.1486C>T (p.Arg496Trp)
|
rs374603772
|
0.00001
|
NM_174936.4(PCSK9):c.1529G>A (p.Arg510Gln)
|
rs757804293
|
0.00001
|
NM_174936.4(PCSK9):c.1540G>A (p.Ala514Thr)
|
rs1447116791
|
0.00001
|
NM_174936.4(PCSK9):c.1672G>A (p.Val558Ile)
|
rs1277680499
|
0.00001
|
NM_174936.4(PCSK9):c.1807G>A (p.Ala603Thr)
|
rs1245161747
|
0.00001
|
NM_174936.4(PCSK9):c.1850C>A (p.Ala617Asp)
|
rs754936553
|
0.00001
|
NM_174936.4(PCSK9):c.1886G>A (p.Gly629Asp)
|
rs1261496250
|
0.00001
|
NM_174936.4(PCSK9):c.2023G>A (p.Val675Ile)
|
rs760981278
|
0.00001
|
NM_174936.4(PCSK9):c.2045G>A (p.Arg682Gln)
|
rs758946245
|
0.00001
|
NM_174936.4(PCSK9):c.341T>C (p.Val114Ala)
|
rs775988212
|
0.00001
|
NM_174936.4(PCSK9):c.34C>A (p.Pro12Thr)
|
rs968023760
|
0.00001
|
NM_174936.4(PCSK9):c.404T>C (p.Leu135Ser)
|
rs745916051
|
0.00001
|
NM_174936.4(PCSK9):c.478C>T (p.Arg160Trp)
|
rs200505188
|
0.00001
|
NM_174936.4(PCSK9):c.503C>T (p.Ala168Val)
|
rs770592607
|
0.00001
|
NM_174936.4(PCSK9):c.628G>A (p.Glu210Lys)
|
rs1302868036
|
0.00001
|
NM_174936.4(PCSK9):c.70G>A (p.Gly24Ser)
|
rs1479030404
|
0.00001
|
NM_174936.4(PCSK9):c.718G>A (p.Gly240Ser)
|
rs751048732
|
0.00001
|
NM_174936.4(PCSK9):c.724G>A (p.Ala242Thr)
|
rs1238510123
|
0.00001
|
NM_174936.4(PCSK9):c.743G>A (p.Arg248His)
|
rs749573024
|
0.00001
|
NM_174936.4(PCSK9):c.77C>T (p.Ala26Val)
|
rs1413443246
|
0.00001
|
NM_174936.4(PCSK9):c.839T>C (p.Val280Ala)
|
rs1000735676
|
0.00001
|
NM_174936.4(PCSK9):c.914C>T (p.Ala305Val)
|
rs1239236028
|
0.00001
|
NM_174936.4(PCSK9):c.961G>A (p.Asp321Asn)
|
rs780509319
|
0.00001
|
NM_181486.4(TBX5):c.1084C>G (p.Gln362Glu)
|
rs765204502
|
0.00001
|
NM_181486.4(TBX5):c.1124G>A (p.Arg375Gln)
|
rs1486871388
|
0.00001
|
NM_181486.4(TBX5):c.1199C>T (p.Thr400Met)
|
rs759766836
|
0.00001
|
NM_181486.4(TBX5):c.1208G>A (p.Ser403Asn)
|
rs773568096
|
0.00001
|
NM_181486.4(TBX5):c.125C>T (p.Pro42Leu)
|
rs759976245
|
0.00001
|
NM_181486.4(TBX5):c.1348C>G (p.Leu450Val)
|
rs1243477560
|
0.00001
|
NM_181486.4(TBX5):c.781A>T (p.Ser261Cys)
|
rs377625550
|
0.00001
|
NM_181486.4(TBX5):c.902C>G (p.Ser301Cys)
|
rs973621936
|
0.00001
|
NM_181486.4(TBX5):c.950A>G (p.His317Arg)
|
rs1869524074
|
0.00001
|
NM_201596.3(CACNB2):c.1056G>A (p.Ala352=)
|
rs730880058
|
0.00001
|
NM_201596.3(CACNB2):c.1261G>A (p.Val421Ile)
|
rs745337273
|
0.00001
|
NM_201596.3(CACNB2):c.1267A>T (p.Met423Leu)
|
rs779536902
|
0.00001
|
NM_201596.3(CACNB2):c.1276G>A (p.Ala426Thr)
|
rs1336353571
|
0.00001
|
NM_201596.3(CACNB2):c.1363G>A (p.Asp455Asn)
|
rs780208478
|
0.00001
|
NM_201596.3(CACNB2):c.1509G>T (p.Arg503Ser)
|
rs769682775
|
0.00001
|
NM_201596.3(CACNB2):c.1589A>C (p.His530Pro)
|
rs1169230473
|
0.00001
|
NM_201596.3(CACNB2):c.1625G>A (p.Arg542His)
|
rs571637787
|
0.00001
|
NM_201596.3(CACNB2):c.1747G>C (p.Ala583Pro)
|
rs373826838
|
0.00001
|
NM_201596.3(CACNB2):c.1823G>A (p.Arg608His)
|
rs771011929
|
0.00001
|
NM_201596.3(CACNB2):c.1828C>T (p.Arg610Trp)
|
rs545095722
|
0.00001
|
NM_201596.3(CACNB2):c.1840C>T (p.Arg614Ter)
|
rs775467558
|
0.00001
|
NM_201596.3(CACNB2):c.1873C>T (p.Arg625Cys)
|
rs1060499847
|
0.00001
|
NM_201596.3(CACNB2):c.1912G>T (p.Asp638Tyr)
|
rs142735478
|
0.00001
|
NM_201596.3(CACNB2):c.214-61000A>G
|
rs762796116
|
0.00001
|
NM_201596.3(CACNB2):c.314C>G (p.Ala105Gly)
|
rs375218580
|
0.00001
|
NM_201596.3(CACNB2):c.353C>T (p.Ala118Val)
|
rs371859398
|
0.00001
|
NM_201596.3(CACNB2):c.358C>T (p.Arg120Trp)
|
rs541253552
|
0.00001
|
NM_201596.3(CACNB2):c.410G>A (p.Gly137Asp)
|
rs754596850
|
0.00001
|
NM_201596.3(CACNB2):c.424T>C (p.Phe142Leu)
|
rs747658821
|
0.00001
|
NM_201596.3(CACNB2):c.448G>A (p.Val150Ile)
|
rs1157722971
|
0.00001
|
NM_201596.3(CACNB2):c.503G>A (p.Cys168Tyr)
|
rs773215003
|
0.00001
|
NM_201596.3(CACNB2):c.631A>G (p.Ile211Val)
|
rs1344965960
|
0.00001
|
NM_201596.3(CACNB2):c.665C>T (p.Ser222Leu)
|
rs761542420
|
0.00001
|
NM_201596.3(CACNB2):c.821C>T (p.Pro274Leu)
|
rs767304274
|
0.00001
|
NM_000020.3(ACVRL1):c.1023C>G (p.Asn341Lys)
|
|
|
NM_000020.3(ACVRL1):c.1033T>C (p.Cys345Arg)
|
rs1060503239
|
|
NM_000020.3(ACVRL1):c.1034G>A (p.Cys345Tyr)
|
rs1592224431
|
|
NM_000020.3(ACVRL1):c.1036A>T (p.Ile346Phe)
|
|
|
NM_000020.3(ACVRL1):c.1042G>A (p.Asp348Asn)
|
|
|
NM_000020.3(ACVRL1):c.1048+5G>T
|
|
|
NM_000020.3(ACVRL1):c.104C>T (p.Thr35Met)
|
|
|
NM_000020.3(ACVRL1):c.1052T>C (p.Leu351Pro)
|
|
|
NM_000020.3(ACVRL1):c.1054G>A (p.Ala352Thr)
|
|
|
NM_000020.3(ACVRL1):c.107G>A (p.Cys36Tyr)
|
|
|
NM_000020.3(ACVRL1):c.1111G>A (p.Gly371Ser)
|
|
|
NM_000020.3(ACVRL1):c.1123T>A (p.Tyr375Asn)
|
|
|
NM_000020.3(ACVRL1):c.1123_1161dup (p.Thr387_Asp388insTyrMetAlaProGluValLeuAspGluGlnIleArgThr)
|
|
|
NM_000020.3(ACVRL1):c.112A>T (p.Ser38Cys)
|
|
|
NM_000020.3(ACVRL1):c.1130C>T (p.Ala377Val)
|
|
|
NM_000020.3(ACVRL1):c.1187C>T (p.Thr396Ile)
|
|
|
NM_000020.3(ACVRL1):c.1192A>T (p.Ile398Phe)
|
|
|
NM_000020.3(ACVRL1):c.1235C>A (p.Thr412Asn)
|
|
|
NM_000020.3(ACVRL1):c.1246+5G>A
|
rs1940838881
|
|
NM_000020.3(ACVRL1):c.1261T>G (p.Tyr421Asp)
|
|
|
NM_000020.3(ACVRL1):c.1298C>T (p.Pro433Leu)
|
|
|
NM_000020.3(ACVRL1):c.1377G>A (p.Pro459=)
|
rs61734312
|
|
NM_000020.3(ACVRL1):c.1414T>A (p.Trp472Arg)
|
|
|
NM_000020.3(ACVRL1):c.1414T>C (p.Trp472Arg)
|
|
|
NM_000020.3(ACVRL1):c.1416G>C (p.Trp472Cys)
|
rs1060503243
|
|
NM_000020.3(ACVRL1):c.1438C>T (p.Leu480Phe)
|
|
|
NM_000020.3(ACVRL1):c.1442C>T (p.Thr481Ile)
|
|
|
NM_000020.3(ACVRL1):c.1457AGA[1] (p.Lys487del)
|
rs1940959480
|
|
NM_000020.3(ACVRL1):c.151T>G (p.Cys51Gly)
|
rs2139064874
|
|
NM_000020.3(ACVRL1):c.154A>G (p.Thr52Ala)
|
rs1131691346
|
|
NM_000020.3(ACVRL1):c.156AGT[1] (p.Val54del)
|
|
|
NM_000020.3(ACVRL1):c.158T>C (p.Val53Ala)
|
|
|
NM_000020.3(ACVRL1):c.214_219del (p.Leu72_His73del)
|
|
|
NM_000020.3(ACVRL1):c.241C>T (p.Pro81Ser)
|
|
|
NM_000020.3(ACVRL1):c.247G>A (p.Glu83Lys)
|
|
|
NM_000020.3(ACVRL1):c.259C>G (p.His87Asp)
|
rs1430932447
|
|
NM_000020.3(ACVRL1):c.263A>G (p.Tyr88Cys)
|
rs1940739692
|
|
NM_000020.3(ACVRL1):c.284G>A (p.Cys95Tyr)
|
|
|
NM_000020.3(ACVRL1):c.293A>G (p.Asn98Ser)
|
rs1085307406
|
|
NM_000020.3(ACVRL1):c.299C>G (p.Ser100Cys)
|
|
|
NM_000020.3(ACVRL1):c.374C>G (p.Pro125Arg)
|
|
|
NM_000020.3(ACVRL1):c.423G>T (p.Trp141Cys)
|
|
|
NM_000020.3(ACVRL1):c.463A>C (p.Ser155Arg)
|
|
|
NM_000020.3(ACVRL1):c.466G>A (p.Glu156Lys)
|
|
|
NM_000020.3(ACVRL1):c.500C>G (p.Ser167Cys)
|
|
|
NM_000020.3(ACVRL1):c.538A>G (p.Ser180Gly)
|
|
|
NM_000020.3(ACVRL1):c.557G>T (p.Ser186Ile)
|
rs1288729113
|
|
NM_000020.3(ACVRL1):c.589A>T (p.Thr197Ser)
|
|
|
NM_000020.3(ACVRL1):c.611T>C (p.Leu204Ser)
|
|
|
NM_000020.3(ACVRL1):c.649T>G (p.Trp217Gly)
|
|
|
NM_000020.3(ACVRL1):c.689TCT[1] (p.Phe231del)
|
|
|
NM_000020.3(ACVRL1):c.698C>T (p.Ser233Leu)
|
rs762773076
|
|
NM_000020.3(ACVRL1):c.704A>G (p.Asp235Gly)
|
|
|
NM_000020.3(ACVRL1):c.767T>G (p.Ile256Ser)
|
|
|
NM_000020.3(ACVRL1):c.772+5G>A
|
|
|
NM_000020.3(ACVRL1):c.782C>A (p.Ala261Asp)
|
|
|
NM_000020.3(ACVRL1):c.850T>C (p.Ser284Pro)
|
|
|
NM_000020.3(ACVRL1):c.931G>C (p.Ala311Pro)
|
rs565262730
|
|
NM_000020.3(ACVRL1):c.967A>G (p.Lys323Glu)
|
|
|
NM_000020.3(ACVRL1):c.977T>C (p.Ile326Thr)
|
|
|
NM_000020.3(ACVRL1):c.999C>A (p.Ser333Arg)
|
|
|
NM_000039.3(APOA1):c.148G>A (p.Gly50Ser)
|
|
|
NM_000039.3(APOA1):c.191A>G (p.Lys64Arg)
|
|
|
NM_000039.3(APOA1):c.233C>T (p.Thr78Ile)
|
|
|
NM_000039.3(APOA1):c.242T>A (p.Phe81Tyr)
|
rs757011774
|
|
NM_000039.3(APOA1):c.256G>A (p.Glu86Lys)
|
|
|
NM_000039.3(APOA1):c.265G>A (p.Gly89Ser)
|
|
|
NM_000039.3(APOA1):c.332G>A (p.Ser111Asn)
|
|
|
NM_000039.3(APOA1):c.339T>G (p.Asp113Glu)
|
|
|
NM_000039.3(APOA1):c.367C>T (p.Pro123Ser)
|
|
|
NM_000039.3(APOA1):c.397C>G (p.Gln133Glu)
|
|
|
NM_000039.3(APOA1):c.43+3A>G
|
|
|
NM_000039.3(APOA1):c.480G>T (p.Glu160Asp)
|
rs769548576
|
|
NM_000039.3(APOA1):c.485A>C (p.Gln162Pro)
|
|
|
NM_000039.3(APOA1):c.488A>G (p.Glu163Gly)
|
|
|
NM_000039.3(APOA1):c.494T>C (p.Leu165Pro)
|
|
|
NM_000039.3(APOA1):c.511G>A (p.Glu171Lys)
|
|
|
NM_000039.3(APOA1):c.523C>G (p.Arg175Gly)
|
|
|
NM_000039.3(APOA1):c.539T>C (p.Val180Ala)
|
|
|
NM_000039.3(APOA1):c.554C>T (p.Thr185Met)
|
|
|
NM_000039.3(APOA1):c.569A>G (p.Tyr190Cys)
|
|
|
NM_000039.3(APOA1):c.599C>T (p.Ala200Val)
|
|
|
NM_000039.3(APOA1):c.643G>A (p.Glu215Lys)
|
|
|
NM_000039.3(APOA1):c.703C>G (p.Leu235Val)
|
|
|
NM_000039.3(APOA1):c.724C>A (p.Leu242Met)
|
|
|
NM_000039.3(APOA1):c.752T>A (p.Val251Asp)
|
rs760566805
|
|
NM_000039.3(APOA1):c.766G>A (p.Ala256Thr)
|
|
|
NM_000039.3(APOA1):c.772G>C (p.Glu258Gln)
|
|
|
NM_000039.3(APOA1):c.82C>T (p.Pro28Ser)
|
|
|
NM_000040.3(APOC3):c.116C>A (p.Ala39Asp)
|
|
|
NM_000040.3(APOC3):c.118A>G (p.Thr40Ala)
|
|
|
NM_000040.3(APOC3):c.13G>A (p.Val5Ile)
|
|
|
NM_000040.3(APOC3):c.171G>C (p.Gln57His)
|
|
|
NM_000040.3(APOC3):c.172C>A (p.Gln58Lys)
|
|
|
NM_000040.3(APOC3):c.175G>T (p.Ala59Ser)
|
|
|
NM_000040.3(APOC3):c.40C>T (p.Leu14Phe)
|
|
|
NM_000040.3(APOC3):c.70G>A (p.Glu24Lys)
|
|
|
NM_000040.3(APOC3):c.77C>T (p.Ala26Val)
|
|
|
NM_000040.3(APOC3):c.90_95dup (p.Phe31_Met32insIlePhe)
|
|
|
NM_000041.4(APOE):c.125A>C (p.Gln42Pro)
|
|
|
NM_000041.4(APOE):c.193G>T (p.Val65Leu)
|
|
|
NM_000041.4(APOE):c.214T>G (p.Ser72Ala)
|
|
|
NM_000041.4(APOE):c.281C>G (p.Ser94Trp)
|
|
|
NM_000041.4(APOE):c.296A>G (p.Gln99Arg)
|
|
|
NM_000041.4(APOE):c.310G>A (p.Ala104Thr)
|
|
|
NM_000041.4(APOE):c.356A>C (p.Gln119Pro)
|
|
|
NM_000041.4(APOE):c.362G>A (p.Arg121Gln)
|
|
|
NM_000041.4(APOE):c.370G>A (p.Ala124Thr)
|
|
|
NM_000041.4(APOE):c.484C>A (p.Leu162Met)
|
|
|
NM_000041.4(APOE):c.542A>T (p.Gln181Leu)
|
|
|
NM_000041.4(APOE):c.544G>C (p.Ala182Pro)
|
|
|
NM_000041.4(APOE):c.583A>T (p.Ile195Phe)
|
|
|
NM_000041.4(APOE):c.598G>C (p.Gly200Arg)
|
|
|
NM_000041.4(APOE):c.623T>G (p.Val208Gly)
|
|
|
NM_000041.4(APOE):c.625C>T (p.Arg209Trp)
|
|
|
NM_000041.4(APOE):c.638T>G (p.Val213Gly)
|
|
|
NM_000041.4(APOE):c.640G>A (p.Gly214Ser)
|
|
|
NM_000041.4(APOE):c.655C>G (p.Gln219Glu)
|
|
|
NM_000041.4(APOE):c.709G>A (p.Glu237Lys)
|
|
|
NM_000041.4(APOE):c.714G>C (p.Glu238Asp)
|
|
|
NM_000041.4(APOE):c.719G>A (p.Gly240Asp)
|
|
|
NM_000041.4(APOE):c.739C>G (p.Leu247Val)
|
|
|
NM_000041.4(APOE):c.767A>T (p.Glu256Val)
|
|
|
NM_000041.4(APOE):c.773G>A (p.Arg258His)
|
|
|
NM_000041.4(APOE):c.818A>G (p.Glu273Gly)
|
|
|
NM_000041.4(APOE):c.832C>T (p.Arg278Cys)
|
|
|
NM_000041.4(APOE):c.882G>T (p.Trp294Cys)
|
|
|
NM_000041.4(APOE):c.895G>C (p.Glu299Gln)
|
|
|
NM_000071.3(CBS):c.1436T>C (p.Val479Ala)
|
rs886038933
|
|
NM_000088.4(COL1A1):c.1056+2T>C
|
|
|
NM_000088.4(COL1A1):c.1056+5G>C
|
|
|
NM_000088.4(COL1A1):c.106C>G (p.Pro36Ala)
|
|
|
NM_000088.4(COL1A1):c.1259C>G (p.Pro420Arg)
|
|
|
NM_000088.4(COL1A1):c.1664C>G (p.Pro555Arg)
|
rs72648359
|
|
NM_000088.4(COL1A1):c.1822-3C>A
|
|
|
NM_000088.4(COL1A1):c.1951C>A (p.Pro651Thr)
|
|
|
NM_000088.4(COL1A1):c.1951C>T (p.Pro651Ser)
|
|
|
NM_000088.4(COL1A1):c.196G>C (p.Gly66Arg)
|
|
|
NM_000088.4(COL1A1):c.2005G>A (p.Ala669Thr)
|
rs563598815
|
|
NM_000088.4(COL1A1):c.2029-5T>C
|
|
|
NM_000088.4(COL1A1):c.2050G>A (p.Glu684Lys)
|
|
|
NM_000088.4(COL1A1):c.2078C>T (p.Pro693Leu)
|
|
|
NM_000088.4(COL1A1):c.2257G>A (p.Ala753Thr)
|
rs764478745
|
|
NM_000088.4(COL1A1):c.2323G>A (p.Ala775Thr)
|
|
|
NM_000088.4(COL1A1):c.2384C>T (p.Ala795Val)
|
|
|
NM_000088.4(COL1A1):c.2386C>T (p.Arg796Cys)
|
rs751890158
|
|
NM_000088.4(COL1A1):c.251C>G (p.Ala84Gly)
|
rs775095655
|
|
NM_000088.4(COL1A1):c.2557A>C (p.Ile853Leu)
|
|
|
NM_000088.4(COL1A1):c.2560-5del
|
|
|
NM_000088.4(COL1A1):c.3077G>A (p.Arg1026Gln)
|
|
|
NM_000088.4(COL1A1):c.3238C>T (p.Pro1080Ser)
|
|
|
NM_000088.4(COL1A1):c.3293A>G (p.Glu1098Gly)
|
|
|
NM_000088.4(COL1A1):c.334-5C>T
|
rs115997082
|
|
NM_000088.4(COL1A1):c.3491C>A (p.Pro1164His)
|
|
|
NM_000088.4(COL1A1):c.3508C>T (p.Arg1170Cys)
|
rs1373318649
|
|
NM_000088.4(COL1A1):c.3667G>A (p.Val1223Met)
|
|
|
NM_000088.4(COL1A1):c.3674G>A (p.Arg1225His)
|
|
|
NM_000088.4(COL1A1):c.3758A>G (p.Lys1253Arg)
|
|
|
NM_000088.4(COL1A1):c.3952_3954del (p.Pro1318del)
|
rs1451296434
|
|
NM_000088.4(COL1A1):c.3981C>T (p.Gly1327=)
|
|
|
NM_000088.4(COL1A1):c.4180_4182del (p.Asn1394del)
|
|
|
NM_000088.4(COL1A1):c.4248+5G>C
|
|
|
NM_000088.4(COL1A1):c.429CCCCGGACC[1] (p.143PPG[3])
|
rs769867566
|
|
NM_000088.4(COL1A1):c.4363G>A (p.Gly1455Ser)
|
|
|
NM_000088.4(COL1A1):c.4383C>A (p.Val1461=)
|
|
|
NM_000088.4(COL1A1):c.71A>G (p.Glu24Gly)
|
|
|
NM_000088.4(COL1A1):c.750+3G>A
|
|
|
NM_000088.4(COL1A1):c.773C>G (p.Thr258Arg)
|
|
|
NM_000089.4(COL1A2):c.1107A>C (p.Gln369His)
|
|
|
NM_000089.4(COL1A2):c.115G>A (p.Gly39Arg)
|
|
|
NM_000089.4(COL1A2):c.1253_1255delinsTACCAGA (p.Gly418fs)
|
|
|
NM_000089.4(COL1A2):c.1285G>C (p.Ala429Pro)
|
|
|
NM_000089.4(COL1A2):c.133-5A>G
|
|
|
NM_000089.4(COL1A2):c.1420G>A (p.Asp474Asn)
|
|
|
NM_000089.4(COL1A2):c.1436C>T (p.Pro479Leu)
|
|
|
NM_000089.4(COL1A2):c.148C>A (p.Pro50Thr)
|
|
|
NM_000089.4(COL1A2):c.1501A>G (p.Thr501Ala)
|
|
|
NM_000089.4(COL1A2):c.1502C>A (p.Thr501Asn)
|
|
|
NM_000089.4(COL1A2):c.1727A>G (p.His576Arg)
|
|
|
NM_000089.4(COL1A2):c.1765-5T>C
|
rs2115916781
|
|
NM_000089.4(COL1A2):c.1854T>A (p.Asp618Glu)
|
|
|
NM_000089.4(COL1A2):c.2005C>T (p.Pro669Ser)
|
|
|
NM_000089.4(COL1A2):c.2140C>A (p.Arg714Ser)
|
|
|
NM_000089.4(COL1A2):c.2381G>A (p.Arg794Gln)
|
|
|
NM_000089.4(COL1A2):c.2404-3T>C
|
|
|
NM_000089.4(COL1A2):c.2488C>T (p.Arg830Ter)
|
|
|
NM_000089.4(COL1A2):c.2524T>C (p.Phe842Leu)
|
|
|
NM_000089.4(COL1A2):c.254G>T (p.Gly85Val)
|
|
|
NM_000089.4(COL1A2):c.2554G>A (p.Ala852Thr)
|
|
|
NM_000089.4(COL1A2):c.2569C>T (p.Pro857Ser)
|
rs150179964
|
|
NM_000089.4(COL1A2):c.2716C>T (p.Arg906Cys)
|
|
|
NM_000089.4(COL1A2):c.2821C>T (p.Gln941Ter)
|
|
|
NM_000089.4(COL1A2):c.2827G>A (p.Gly943Arg)
|
rs193922165
|
|
NM_000089.4(COL1A2):c.2835+3C>G
|
|
|
NM_000089.4(COL1A2):c.3089G>A (p.Gly1030Asp)
|
rs1114167415
|
|
NM_000089.4(COL1A2):c.3157A>G (p.Arg1053Gly)
|
|
|
NM_000089.4(COL1A2):c.3226C>A (p.Pro1076Thr)
|
|
|
NM_000089.4(COL1A2):c.3387A>T (p.Arg1129Ser)
|
|
|
NM_000089.4(COL1A2):c.3407A>G (p.Asp1136Gly)
|
rs745366015
|
|
NM_000089.4(COL1A2):c.3430A>C (p.Asn1144His)
|
rs374282276
|
|
NM_000089.4(COL1A2):c.3496T>G (p.Leu1166Val)
|
|
|
NM_000089.4(COL1A2):c.3740C>A (p.Ser1247Tyr)
|
rs763721360
|
|
NM_000089.4(COL1A2):c.3772C>T (p.Arg1258Cys)
|
rs766273613
|
|
NM_000089.4(COL1A2):c.3865G>T (p.Ala1289Ser)
|
|
|
NM_000089.4(COL1A2):c.644C>G (p.Ala215Gly)
|
|
|
NM_000089.4(COL1A2):c.790A>G (p.Lys264Glu)
|
|
|
NM_000089.4(COL1A2):c.853G>T (p.Val285Leu)
|
|
|
NM_000089.4(COL1A2):c.916A>G (p.Thr306Ala)
|
|
|
NM_000089.4(COL1A2):c.932C>T (p.Ala311Val)
|
|
|
NM_000090.4(COL3A1):c.1232G>A (p.Gly411Glu)
|
rs886038816
|
|
NM_000090.4(COL3A1):c.2022+4G>A
|
rs886038865
|
|
NM_000090.4(COL3A1):c.2519G>T (p.Gly840Val)
|
rs886038895
|
|
NM_000090.4(COL3A1):c.2927T>C (p.Val976Ala)
|
rs886038939
|
|
NM_000090.4(COL3A1):c.3205C>T (p.Pro1069Ser)
|
rs200122671
|
|
NM_000116.5(TAFAZZIN):c.-4G>A
|
|
|
NM_000116.5(TAFAZZIN):c.136A>T (p.Asn46Tyr)
|
|
|
NM_000116.5(TAFAZZIN):c.142G>A (p.Glu48Lys)
|
|
|
NM_000116.5(TAFAZZIN):c.299C>T (p.Ala100Val)
|
rs1569552722
|
|
NM_000116.5(TAFAZZIN):c.370G>A (p.Gly124Arg)
|
|
|
NM_000116.5(TAFAZZIN):c.37C>T (p.Pro13Ser)
|
|
|
NM_000116.5(TAFAZZIN):c.541+3C>G
|
rs1557193865
|
|
NM_000116.5(TAFAZZIN):c.542-3C>T
|
|
|
NM_000116.5(TAFAZZIN):c.571C>T (p.Arg191Cys)
|
|
|
NM_000116.5(TAFAZZIN):c.613C>T (p.Leu205Phe)
|
|
|
NM_000116.5(TAFAZZIN):c.67G>A (p.Val23Ile)
|
|
|
NM_000116.5(TAFAZZIN):c.689G>T (p.Arg230Leu)
|
|
|
NM_000116.5(TAFAZZIN):c.800C>T (p.Thr267Met)
|
rs1557194504
|
|
NM_000117.3(EMD):c.104AGA[2] (p.Lys37del)
|
rs782507902
|
|
NM_000117.3(EMD):c.176A>G (p.Tyr59Cys)
|
rs2148128196
|
|
NM_000117.3(EMD):c.18T>A (p.Asp6Glu)
|
|
|
NM_000117.3(EMD):c.206G>A (p.Gly69Glu)
|
|
|
NM_000117.3(EMD):c.264G>C (p.Lys88Asn)
|
|
|
NM_000117.3(EMD):c.302C>G (p.Thr101Ser)
|
|
|
NM_000117.3(EMD):c.317G>A (p.Gly106Glu)
|
rs1312994862
|
|
NM_000117.3(EMD):c.325G>C (p.Glu109Gln)
|
|
|
NM_000117.3(EMD):c.396C>A (p.His132Gln)
|
rs145985318
|
|
NM_000117.3(EMD):c.400-3C>T
|
|
|
NM_000117.3(EMD):c.425C>T (p.Ser142Phe)
|
rs2067882775
|
|
NM_000117.3(EMD):c.449+3G>A
|
|
|
NM_000117.3(EMD):c.449+4C>T
|
rs886044810
|
|
NM_000117.3(EMD):c.466G>C (p.Gly156Arg)
|
rs144594695
|
|
NM_000117.3(EMD):c.490A>C (p.Ile164Leu)
|
rs2067884058
|
|
NM_000117.3(EMD):c.495G>T (p.Thr165=)
|
rs151074632
|
|
NM_000117.3(EMD):c.497A>G (p.His166Arg)
|
rs1016943599
|
|
NM_000117.3(EMD):c.500A>G (p.Tyr167Cys)
|
rs2067884177
|
|
NM_000117.3(EMD):c.513A>G (p.Ser171=)
|
|
|
NM_000117.3(EMD):c.548C>G (p.Pro183Arg)
|
|
|
NM_000117.3(EMD):c.671C>G (p.Pro224Arg)
|
|
|
NM_000117.3(EMD):c.715C>T (p.Leu239Phe)
|
rs2067886585
|
|
NM_000117.3(EMD):c.77T>C (p.Val26Ala)
|
rs727505029
|
|
NM_000117.3(EMD):c.92G>T (p.Arg31Leu)
|
rs2148128120
|
|
NM_000117.3(EMD):c.97C>G (p.Leu33Val)
|
|
|
NM_000138.5(FBN1):c.3962C>T (p.Thr1321Ile)
|
rs750219182
|
|
NM_000138.5(FBN1):c.412A>C (p.Lys138Gln)
|
rs886038937
|
|
NM_000138.5(FBN1):c.4985C>A (p.Thr1662Lys)
|
rs886038924
|
|
NM_000138.5(FBN1):c.5619T>G (p.Tyr1873Ter)
|
rs886038772
|
|
NM_000138.5(FBN1):c.5725A>C (p.Ile1909Leu)
|
rs886038785
|
|
NM_000138.5(FBN1):c.5981G>C (p.Gly1994Ala)
|
rs1484900122
|
|
NM_000138.5(FBN1):c.6068T>C (p.Ile2023Thr)
|
rs363803
|
|
NM_000138.5(FBN1):c.719G>A (p.Arg240His)
|
rs768744583
|
|
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg)
|
rs363811
|
|
NM_000138.5(FBN1):c.8080C>G (p.Arg2694Gly)
|
rs200309328
|
|
NM_000138.5(FBN1):c.8099C>T (p.Pro2700Leu)
|
rs886038782
|
|
NM_000152.5(GAA):c.1045A>G (p.Ser349Gly)
|
|
|
NM_000152.5(GAA):c.1069G>T (p.Val357Phe)
|
rs754449703
|
|
NM_000152.5(GAA):c.1192C>A (p.Leu398Met)
|
rs369707231
|
|
NM_000152.5(GAA):c.1296C>A (p.His432Gln)
|
|
|
NM_000152.5(GAA):c.1536C>A (p.Phe512Leu)
|
rs143491365
|
|
NM_000152.5(GAA):c.1637-4_1637-3delinsG
|
|
|
NM_000152.5(GAA):c.1646G>C (p.Gly549Ala)
|
rs2039246325
|
|
NM_000152.5(GAA):c.1657C>A (p.Gln553Lys)
|
|
|
NM_000152.5(GAA):c.1720C>T (p.Leu574Phe)
|
|
|
NM_000152.5(GAA):c.1743C>T (p.Ile581=)
|
rs527970795
|
|
NM_000152.5(GAA):c.1823G>T (p.Arg608Leu)
|
rs377126280
|
|
NM_000152.5(GAA):c.2122C>G (p.His708Asp)
|
rs149916476
|
|
NM_000152.5(GAA):c.2207G>A (p.Ser736Asn)
|
rs553430197
|
|
NM_000152.5(GAA):c.2215A>T (p.Thr739Ser)
|
rs578245757
|
|
NM_000152.5(GAA):c.2218G>A (p.Val740Met)
|
rs752122499
|
|
NM_000152.5(GAA):c.2272G>T (p.Ala758Ser)
|
|
|
NM_000152.5(GAA):c.2307G>C (p.Leu769Phe)
|
rs372800172
|
|
NM_000152.5(GAA):c.2336C>A (p.Pro779Gln)
|
|
|
NM_000152.5(GAA):c.2362C>A (p.Pro788Thr)
|
rs2039384789
|
|
NM_000152.5(GAA):c.2366C>G (p.Pro789Arg)
|
|
|
NM_000152.5(GAA):c.2431C>G (p.Leu811Val)
|
|
|
NM_000152.5(GAA):c.2444A>T (p.Asn815Ile)
|
|
|
NM_000152.5(GAA):c.2465A>G (p.Tyr822Cys)
|
|
|
NM_000152.5(GAA):c.2574C>G (p.Phe858Leu)
|
|
|
NM_000152.5(GAA):c.2597A>C (p.Glu866Ala)
|
rs951742543
|
|
NM_000152.5(GAA):c.2602C>G (p.Leu868Val)
|
|
|
NM_000152.5(GAA):c.2609G>C (p.Arg870Pro)
|
|
|
NM_000152.5(GAA):c.2672G>C (p.Arg891Pro)
|
rs199524847
|
|
NM_000152.5(GAA):c.2818T>G (p.Ser940Ala)
|
|
|
NM_000152.5(GAA):c.511G>C (p.Val171Leu)
|
|
|
NM_000152.5(GAA):c.688G>A (p.Val230Met)
|
rs145866792
|
|
NM_000152.5(GAA):c.837G>T (p.Trp279Cys)
|
|
|
NM_000169.3(GLA):c.1022A>C (p.Glu341Ala)
|
|
|
NM_000169.3(GLA):c.1046G>C (p.Trp349Ser)
|
rs869312218
|
|
NM_000169.3(GLA):c.1059G>A (p.Met353Ile)
|
|
|
NM_000169.3(GLA):c.1102G>A (p.Ala368Thr)
|
rs144994244
|
|
NM_000169.3(GLA):c.1238T>C (p.Val413Ala)
|
|
|
NM_000169.3(GLA):c.1255A>G (p.Asn419Asp)
|
rs879254061
|
|
NM_000169.3(GLA):c.1285_1289del (p.Leu429fs)
|
|
|
NM_000169.3(GLA):c.17C>G (p.Pro6Arg)
|
rs1928600137
|
|
NM_000169.3(GLA):c.239G>A (p.Gly80Asp)
|
rs781838005
|
|
NM_000169.3(GLA):c.317T>C (p.Leu106Pro)
|
|
|
NM_000169.3(GLA):c.344A>C (p.His115Pro)
|
rs1928402204
|
|
NM_000169.3(GLA):c.369+3G>A
|
rs1333591942
|
|
NM_000169.3(GLA):c.369+4A>T
|
|
|
NM_000169.3(GLA):c.475T>C (p.Phe159Leu)
|
rs1928321516
|
|
NM_000169.3(GLA):c.476T>A (p.Phe159Tyr)
|
|
|
NM_000169.3(GLA):c.491T>C (p.Val164Ala)
|
|
|
NM_000169.3(GLA):c.525C>A (p.Asp175Glu)
|
rs782722844
|
|
NM_000169.3(GLA):c.525C>G (p.Asp175Glu)
|
rs782722844
|
|
NM_000169.3(GLA):c.540G>C (p.Leu180Phe)
|
|
|
NM_000169.3(GLA):c.574A>T (p.Asn192Tyr)
|
rs1555985569
|
|
NM_000169.3(GLA):c.616C>T (p.Leu206Phe)
|
rs730880448
|
|
NM_000169.3(GLA):c.624G>A (p.Met208Ile)
|
|
|
NM_000169.3(GLA):c.662A>G (p.Gln221Arg)
|
|
|
NM_000169.3(GLA):c.70T>A (p.Trp24Arg)
|
rs397515871
|
|
NM_000169.3(GLA):c.74A>T (p.Asp25Val)
|
|
|
NM_000169.3(GLA):c.796G>C (p.Asp266His)
|
|
|
NM_000169.3(GLA):c.829T>G (p.Trp277Gly)
|
rs727504372
|
|
NM_000169.3(GLA):c.947T>C (p.Val316Ala)
|
rs869312157
|
|
NM_000169.3(GLA):c.994_995delinsGA (p.Arg332Glu)
|
rs1057518537
|
|
NM_000214.3(JAG1):c.1022T>C (p.Leu341Pro)
|
|
|
NM_000214.3(JAG1):c.1181A>G (p.Asn394Ser)
|
|
|
NM_000214.3(JAG1):c.1238C>T (p.Ala413Val)
|
|
|
NM_000214.3(JAG1):c.1274A>G (p.Lys425Arg)
|
|
|
NM_000214.3(JAG1):c.1283A>G (p.Lys428Arg)
|
|
|
NM_000214.3(JAG1):c.1330G>A (p.Gly444Ser)
|
|
|
NM_000214.3(JAG1):c.1330G>C (p.Gly444Arg)
|
|
|
NM_000214.3(JAG1):c.1352T>A (p.Ile451Asn)
|
rs1178459436
|
|
NM_000214.3(JAG1):c.1372T>C (p.Cys458Arg)
|
|
|
NM_000214.3(JAG1):c.1388C>T (p.Ser463Phe)
|
|
|
NM_000214.3(JAG1):c.1393C>T (p.Arg465Trp)
|
rs937263997
|
|
NM_000214.3(JAG1):c.142G>A (p.Glu48Lys)
|
|
|
NM_000214.3(JAG1):c.1438G>T (p.Ala480Ser)
|
|
|
NM_000214.3(JAG1):c.1465G>A (p.Asp489Asn)
|
rs370107709
|
|
NM_000214.3(JAG1):c.1591C>A (p.Pro531Thr)
|
|
|
NM_000214.3(JAG1):c.1654C>G (p.Pro552Ala)
|
|
|
NM_000214.3(JAG1):c.1706C>G (p.Thr569Arg)
|
|
|
NM_000214.3(JAG1):c.1712C>A (p.Pro571His)
|
|
|
NM_000214.3(JAG1):c.182C>T (p.Pro61Leu)
|
|
|
NM_000214.3(JAG1):c.190C>T (p.Arg64Cys)
|
|
|
NM_000214.3(JAG1):c.1915A>G (p.Arg639Gly)
|
|
|
NM_000214.3(JAG1):c.1936G>A (p.Asp646Asn)
|
|
|
NM_000214.3(JAG1):c.2005A>G (p.Asn669Asp)
|
|
|
NM_000214.3(JAG1):c.202C>T (p.Arg68Cys)
|
|
|
NM_000214.3(JAG1):c.2065T>C (p.Phe689Leu)
|
|
|
NM_000214.3(JAG1):c.2132A>T (p.Glu711Val)
|
|
|
NM_000214.3(JAG1):c.2290G>A (p.Glu764Lys)
|
|
|
NM_000214.3(JAG1):c.2300C>A (p.Thr767Lys)
|
|
|
NM_000214.3(JAG1):c.2446G>A (p.Asp816Asn)
|
|
|
NM_000214.3(JAG1):c.2489C>T (p.Ala830Val)
|
|
|
NM_000214.3(JAG1):c.2510A>T (p.Asp837Val)
|
|
|
NM_000214.3(JAG1):c.2515A>T (p.Ile839Phe)
|
|
|
NM_000214.3(JAG1):c.2557G>A (p.Ala853Thr)
|
|
|
NM_000214.3(JAG1):c.2652G>T (p.Gln884His)
|
|
|
NM_000214.3(JAG1):c.2665C>G (p.Arg889Gly)
|
|
|
NM_000214.3(JAG1):c.2665C>T (p.Arg889Trp)
|
rs765431150
|
|
NM_000214.3(JAG1):c.2752A>G (p.Ile918Val)
|
rs773431867
|
|
NM_000214.3(JAG1):c.2765A>G (p.Asp922Gly)
|
|
|
NM_000214.3(JAG1):c.2809C>T (p.Arg937Trp)
|
rs779410593
|
|
NM_000214.3(JAG1):c.2858A>G (p.Tyr953Cys)
|
|
|
NM_000214.3(JAG1):c.2926A>G (p.Thr976Ala)
|
|
|
NM_000214.3(JAG1):c.2959A>T (p.Asn987Tyr)
|
|
|
NM_000214.3(JAG1):c.2962A>G (p.Ile988Val)
|
|
|
NM_000214.3(JAG1):c.2978C>T (p.Ser993Phe)
|
|
|
NM_000214.3(JAG1):c.3007G>C (p.Glu1003Gln)
|
rs781509375
|
|
NM_000214.3(JAG1):c.3083T>C (p.Ile1028Thr)
|
|
|
NM_000214.3(JAG1):c.3097G>A (p.Asp1033Asn)
|
|
|
NM_000214.3(JAG1):c.3112C>A (p.Leu1038Ile)
|
|
|
NM_000214.3(JAG1):c.3112C>G (p.Leu1038Val)
|
|
|
NM_000214.3(JAG1):c.3124C>T (p.Arg1042Cys)
|
|
|
NM_000214.3(JAG1):c.3169G>A (p.Val1057Ile)
|
|
|
NM_000214.3(JAG1):c.3169G>C (p.Val1057Leu)
|
|
|
NM_000214.3(JAG1):c.3209T>C (p.Val1070Ala)
|
|
|
NM_000214.3(JAG1):c.3226G>A (p.Val1076Ile)
|
|
|
NM_000214.3(JAG1):c.3265T>C (p.Phe1089Leu)
|
|
|
NM_000214.3(JAG1):c.3284A>G (p.Lys1095Arg)
|
|
|
NM_000214.3(JAG1):c.3302G>A (p.Ser1101Asn)
|
|
|
NM_000214.3(JAG1):c.3329A>G (p.Asn1110Ser)
|
rs150811951
|
|
NM_000214.3(JAG1):c.335G>A (p.Ser112Asn)
|
|
|
NM_000214.3(JAG1):c.3431C>G (p.Ser1144Cys)
|
|
|
NM_000214.3(JAG1):c.3503C>G (p.Ala1168Gly)
|
|
|
NM_000214.3(JAG1):c.3510T>G (p.Phe1170Leu)
|
|
|
NM_000214.3(JAG1):c.3538G>A (p.Asp1180Asn)
|
|
|
NM_000214.3(JAG1):c.3545A>T (p.Glu1182Val)
|
|
|
NM_000214.3(JAG1):c.3579C>G (p.His1193Gln)
|
|
|
NM_000214.3(JAG1):c.3581C>T (p.Pro1194Leu)
|
|
|
NM_000214.3(JAG1):c.3617A>T (p.Glu1206Val)
|
|
|
NM_000214.3(JAG1):c.3653T>A (p.Val1218Glu)
|
|
|
NM_000214.3(JAG1):c.38C>A (p.Pro13His)
|
|
|
NM_000214.3(JAG1):c.406G>T (p.Val136Leu)
|
|
|
NM_000214.3(JAG1):c.428A>T (p.Asn143Ile)
|
|
|
NM_000214.3(JAG1):c.524G>T (p.Gly175Val)
|
rs2122623743
|
|
NM_000214.3(JAG1):c.566A>G (p.Asp189Gly)
|
|
|
NM_000214.3(JAG1):c.59T>C (p.Leu20Pro)
|
rs1568807442
|
|
NM_000214.3(JAG1):c.5G>A (p.Arg2His)
|
|
|
NM_000214.3(JAG1):c.62T>C (p.Leu21Pro)
|
rs876660977
|
|
NM_000214.3(JAG1):c.635G>C (p.Cys212Ser)
|
|
|
NM_000214.3(JAG1):c.651C>A (p.Asn217Lys)
|
|
|
NM_000214.3(JAG1):c.709G>A (p.Gly237Ser)
|
|
|
NM_000214.3(JAG1):c.719C>T (p.Pro240Leu)
|
|
|
NM_000214.3(JAG1):c.775G>A (p.Gly259Ser)
|
|
|
NM_000214.3(JAG1):c.77C>T (p.Ala26Val)
|
|
|
NM_000214.3(JAG1):c.878G>A (p.Cys293Tyr)
|
rs1568798248
|
|
NM_000214.3(JAG1):c.89G>A (p.Gly30Glu)
|
|
|
NM_000214.3(JAG1):c.925G>C (p.Gly309Arg)
|
rs750195672
|
|
NM_000218.3(KCNQ1):c.-3G>A
|
|
|
NM_000218.3(KCNQ1):c.-3G>C
|
|
|
NM_000218.3(KCNQ1):c.-4C>A
|
|
|
NM_000218.3(KCNQ1):c.1021G>A (p.Ala341Thr)
|
|
|
NM_000218.3(KCNQ1):c.1032+3A>G
|
|
|
NM_000218.3(KCNQ1):c.1073A>C (p.Lys358Thr)
|
|
|
NM_000218.3(KCNQ1):c.1128+5G>C
|
|
|
NM_000218.3(KCNQ1):c.1138A>G (p.Arg380Gly)
|
rs199472770
|
|
NM_000218.3(KCNQ1):c.1162G>A (p.Asp388Asn)
|
rs537637760
|
|
NM_000218.3(KCNQ1):c.1165TCC[3] (p.Ser390_Thr391insSer)
|
rs1064793160
|
|
NM_000218.3(KCNQ1):c.1171A>C (p.Thr391Pro)
|
|
|
NM_000218.3(KCNQ1):c.1193A>G (p.Lys398Arg)
|
rs199472777
|
|
NM_000218.3(KCNQ1):c.1196C>G (p.Ala399Gly)
|
rs876657836
|
|
NM_000218.3(KCNQ1):c.1211C>T (p.Thr404Ile)
|
|
|
NM_000218.3(KCNQ1):c.1259A>G (p.Lys420Arg)
|
|
|
NM_000218.3(KCNQ1):c.1290_1301del (p.Val431_Gly434del)
|
rs750178990
|
|
NM_000218.3(KCNQ1):c.1327A>G (p.Ile443Val)
|
rs1848631038
|
|
NM_000218.3(KCNQ1):c.1340C>A (p.Pro447His)
|
rs143149582
|
|
NM_000218.3(KCNQ1):c.1343C>A (p.Pro448Gln)
|
rs12720449
|
|
NM_000218.3(KCNQ1):c.1355G>T (p.Arg452Leu)
|
rs145229963
|
|
NM_000218.3(KCNQ1):c.1420G>T (p.Val474Leu)
|
|
|
NM_000218.3(KCNQ1):c.1426A>G (p.Met476Val)
|
rs794728529
|
|
NM_000218.3(KCNQ1):c.1439T>C (p.Met480Thr)
|
|
|
NM_000218.3(KCNQ1):c.1457C>T (p.Ala486Val)
|
|
|
NM_000218.3(KCNQ1):c.1464CCTGGA[3] (p.Leu491_Glu492insAspLeu)
|
rs1254052516
|
|
NM_000218.3(KCNQ1):c.1478G>C (p.Gly493Ala)
|
|
|
NM_000218.3(KCNQ1):c.152A>G (p.Tyr51Cys)
|
|
|
NM_000218.3(KCNQ1):c.1537A>G (p.Thr513Ala)
|
|
|
NM_000218.3(KCNQ1):c.1578G>T (p.Lys526Asn)
|
rs1554919483
|
|
NM_000218.3(KCNQ1):c.1591-4G>T
|
rs555518358
|
|
NM_000218.3(KCNQ1):c.1595C>T (p.Ala532Val)
|
rs867549263
|
|
NM_000218.3(KCNQ1):c.1603C>A (p.Pro535Thr)
|
rs2133989242
|
|
NM_000218.3(KCNQ1):c.160ATCGCGCCC[3] (p.Pro56_Gly57insIleAlaProIleAlaPro)
|
|
|
NM_000218.3(KCNQ1):c.160_168dup (p.Ile54_Pro56dup)
|
rs397515877
|
|
NM_000218.3(KCNQ1):c.1670A>G (p.Lys557Arg)
|
|
|
NM_000218.3(KCNQ1):c.1685+3G>A
|
|
|
NM_000218.3(KCNQ1):c.1703G>A (p.Gly568Glu)
|
|
|
NM_000218.3(KCNQ1):c.1720A>G (p.Ile574Val)
|
rs761947465
|
|
NM_000218.3(KCNQ1):c.1724C>T (p.Ser575Phe)
|
|
|
NM_000218.3(KCNQ1):c.172G>A (p.Ala58Thr)
|
|
|
NM_000218.3(KCNQ1):c.1738A>G (p.Ser580Gly)
|
|
|
NM_000218.3(KCNQ1):c.175C>G (p.Pro59Ala)
|
rs1554958059
|
|
NM_000218.3(KCNQ1):c.1768G>C (p.Ala590Pro)
|
rs199472813
|
|
NM_000218.3(KCNQ1):c.1779C>G (p.Asn593Lys)
|
rs1421636319
|
|
NM_000218.3(KCNQ1):c.1785AGA[1] (p.Glu596del)
|
|
|
NM_000218.3(KCNQ1):c.1794+3A>T
|
|
|
NM_000218.3(KCNQ1):c.1794G>A (p.Lys598=)
|
rs794728539
|
|
NM_000218.3(KCNQ1):c.1819G>T (p.Ala607Ser)
|
|
|
NM_000218.3(KCNQ1):c.1822C>G (p.Leu608Val)
|
rs1554932663
|
|
NM_000218.3(KCNQ1):c.1826T>A (p.Ile609Asn)
|
|
|
NM_000218.3(KCNQ1):c.1841A>T (p.His614Leu)
|
|
|
NM_000218.3(KCNQ1):c.1862G>A (p.Gly621Asp)
|
rs1590130205
|
|
NM_000218.3(KCNQ1):c.1922C>T (p.Pro641Leu)
|
|
|
NM_000218.3(KCNQ1):c.192_221del (p.Ala65_Pro74del)
|
rs781335353
|
|
NM_000218.3(KCNQ1):c.1987G>A (p.Glu663Lys)
|
|
|
NM_000218.3(KCNQ1):c.1990C>T (p.Gln664Ter)
|
|
|
NM_000218.3(KCNQ1):c.2023G>A (p.Gly675Arg)
|
|
|
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.209C>T (p.Pro70Leu)
|
|
|
NM_000218.3(KCNQ1):c.275C>G (p.Ser92Cys)
|
rs752170852
|
|
NM_000218.3(KCNQ1):c.293G>A (p.Arg98His)
|
|
|
NM_000218.3(KCNQ1):c.296C>G (p.Pro99Arg)
|
rs370435862
|
|
NM_000218.3(KCNQ1):c.31G>A (p.Glu11Lys)
|
rs959449103
|
|
NM_000218.3(KCNQ1):c.383C>T (p.Ala128Val)
|
|
|
NM_000218.3(KCNQ1):c.420C>A (p.Ser140Arg)
|
|
|
NM_000218.3(KCNQ1):c.430A>G (p.Thr144Ala)
|
rs199473451
|
|
NM_000218.3(KCNQ1):c.467T>G (p.Leu156Arg)
|
|
|
NM_000218.3(KCNQ1):c.511T>C (p.Tyr171His)
|
rs1848317948
|
|
NM_000218.3(KCNQ1):c.542G>A (p.Arg181His)
|
|
|
NM_000218.3(KCNQ1):c.553G>C (p.Val185Leu)
|
rs749351255
|
|
NM_000218.3(KCNQ1):c.566G>C (p.Gly189Ala)
|
|
|
NM_000218.3(KCNQ1):c.581C>T (p.Ala194Val)
|
rs2133727494
|
|
NM_000218.3(KCNQ1):c.586A>C (p.Lys196Gln)
|
rs1589956747
|
|
NM_000218.3(KCNQ1):c.598A>G (p.Ile200Val)
|
|
|
NM_000218.3(KCNQ1):c.605-5C>T
|
|
|
NM_000218.3(KCNQ1):c.629T>C (p.Met210Thr)
|
rs886038994
|
|
NM_000218.3(KCNQ1):c.683+4C>T
|
rs554698776
|
|
NM_000218.3(KCNQ1):c.684-4G>A
|
rs750965939
|
|
NM_000218.3(KCNQ1):c.701A>G (p.Gln234Arg)
|
rs794728570
|
|
NM_000218.3(KCNQ1):c.797T>G (p.Leu266Arg)
|
rs199473460
|
|
NM_000218.3(KCNQ1):c.800A>T (p.Tyr267Phe)
|
rs886039033
|
|
NM_000218.3(KCNQ1):c.847G>T (p.Ala283Ser)
|
|
|
NM_000218.3(KCNQ1):c.848C>T (p.Ala283Val)
|
|
|
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.860C>T (p.Ala287Val)
|
rs199472735
|
|
NM_000218.3(KCNQ1):c.86G>T (p.Gly29Val)
|
|
|
NM_000218.3(KCNQ1):c.889G>C (p.Gly297Arg)
|
rs34320941
|
|
NM_000218.3(KCNQ1):c.894C>A (p.Ser298Arg)
|
|
|
NM_000218.3(KCNQ1):c.914G>T (p.Trp305Leu)
|
rs120074186
|
|
NM_000218.3(KCNQ1):c.922-3C>A
|
rs794728515
|
|
NM_000218.3(KCNQ1):c.970G>T (p.Val324Phe)
|
rs1848536066
|
|
NM_000218.3(KCNQ1):c.989C>A (p.Ser330Tyr)
|
|
|
NM_000219.6(KCNE1):c.106C>T (p.Arg36Cys)
|
rs372398235
|
|
NM_000219.6(KCNE1):c.108_109delinsGG (p.Ser37Gly)
|
rs886044294
|
|
NM_000219.6(KCNE1):c.112_113delinsGA (p.Ser38Asp)
|
rs1064795410
|
|
NM_000219.6(KCNE1):c.123G>C (p.Lys41Asn)
|
rs763754260
|
|
NM_000219.6(KCNE1):c.140T>C (p.Val47Ala)
|
|
|
NM_000219.6(KCNE1):c.148G>A (p.Val50Ile)
|
|
|
NM_000219.6(KCNE1):c.191G>T (p.Ser64Ile)
|
rs1382168637
|
|
NM_000219.6(KCNE1):c.205A>G (p.Lys69Glu)
|
|
|
NM_000219.6(KCNE1):c.208A>C (p.Lys70Gln)
|
rs1568836235
|
|
NM_000219.6(KCNE1):c.221C>G (p.Ser74Trp)
|
rs74315446
|
|
NM_000219.6(KCNE1):c.244A>G (p.Ile82Val)
|
|
|
NM_000219.6(KCNE1):c.246C>G (p.Ile82Met)
|
|
|
NM_000219.6(KCNE1):c.247_248delinsAC (p.Glu83Thr)
|
|
|
NM_000219.6(KCNE1):c.280T>C (p.Tyr94His)
|
|
|
NM_000219.6(KCNE1):c.287A>G (p.Gln96Arg)
|
rs767972997
|
|
NM_000219.6(KCNE1):c.335A>G (p.His112Arg)
|
rs1352531511
|
|
NM_000219.6(KCNE1):c.341C>T (p.Ala114Val)
|
|
|
NM_000219.6(KCNE1):c.347A>C (p.Glu116Ala)
|
rs1235182008
|
|
NM_000219.6(KCNE1):c.66G>T (p.Gln22His)
|
|
|
NM_000219.6(KCNE1):c.91G>A (p.Ala31Thr)
|
|
|
NM_000229.2(LCAT):c.1054G>A (p.Asp352Asn)
|
|
|
NM_000229.2(LCAT):c.1073C>T (p.Thr358Met)
|
|
|
NM_000229.2(LCAT):c.1088T>A (p.Val363Glu)
|
|
|
NM_000229.2(LCAT):c.1163C>T (p.Pro388Leu)
|
|
|
NM_000229.2(LCAT):c.116A>G (p.Lys39Arg)
|
|
|
NM_000229.2(LCAT):c.118G>C (p.Ala40Pro)
|
|
|
NM_000229.2(LCAT):c.136A>T (p.Thr46Ser)
|
|
|
NM_000229.2(LCAT):c.203A>G (p.Asp68Gly)
|
|
|
NM_000229.2(LCAT):c.227G>A (p.Arg76His)
|
|
|
NM_000229.2(LCAT):c.259G>T (p.Asp87Tyr)
|
|
|
NM_000229.2(LCAT):c.364A>G (p.Ile122Val)
|
|
|
NM_000229.2(LCAT):c.370G>A (p.Val124Ile)
|
|
|
NM_000229.2(LCAT):c.409G>A (p.Asp137Asn)
|
|
|
NM_000229.2(LCAT):c.584A>G (p.Tyr195Cys)
|
|
|
NM_000229.2(LCAT):c.623G>C (p.Cys208Ser)
|
|
|
NM_000229.2(LCAT):c.661G>A (p.Ala221Thr)
|
|
|
NM_000229.2(LCAT):c.734T>G (p.Leu245Arg)
|
|
|
NM_000229.2(LCAT):c.781A>T (p.Ile261Phe)
|
|
|
NM_000229.2(LCAT):c.838C>T (p.Arg280Cys)
|
|
|
NM_000229.2(LCAT):c.839G>A (p.Arg280His)
|
|
|
NM_000229.2(LCAT):c.862G>A (p.Val288Met)
|
|
|
NM_000229.2(LCAT):c.863T>C (p.Val288Ala)
|
|
|
NM_000229.2(LCAT):c.867C>A (p.Phe289Leu)
|
|
|
NM_000229.2(LCAT):c.898C>T (p.Arg300Cys)
|
|
|
NM_000229.2(LCAT):c.899G>A (p.Arg300His)
|
|
|
NM_000229.2(LCAT):c.925C>G (p.Leu309Val)
|
|
|
NM_000229.2(LCAT):c.965G>A (p.Arg322His)
|
|
|
NM_000229.2(LCAT):c.980G>T (p.Gly327Val)
|
|
|
NM_000235.4(LIPA):c.1007C>T (p.Pro336Leu)
|
|
|
NM_000235.4(LIPA):c.1039C>A (p.Leu347Ile)
|
rs1455189146
|
|
NM_000235.4(LIPA):c.1048G>C (p.Val350Leu)
|
|
|
NM_000235.4(LIPA):c.105G>A (p.Met35Ile)
|
|
|
NM_000235.4(LIPA):c.1072A>C (p.Thr358Pro)
|
|
|
NM_000235.4(LIPA):c.1085A>G (p.Asn362Ser)
|
|
|
NM_000235.4(LIPA):c.1103G>A (p.Ser368Asn)
|
|
|
NM_000235.4(LIPA):c.1108C>G (p.Pro370Ala)
|
|
|
NM_000235.4(LIPA):c.1133T>C (p.Ile378Thr)
|
rs778013279
|
|
NM_000235.4(LIPA):c.1155G>C (p.Trp385Cys)
|
|
|
NM_000235.4(LIPA):c.116A>T (p.Glu39Val)
|
|
|
NM_000235.4(LIPA):c.1185G>A (p.Met395Ile)
|
rs1842600141
|
|
NM_000235.4(LIPA):c.128A>G (p.Tyr43Cys)
|
|
|
NM_000235.4(LIPA):c.152A>G (p.Tyr51Cys)
|
|
|
NM_000235.4(LIPA):c.194G>A (p.Arg65Gln)
|
|
|
NM_000235.4(LIPA):c.220T>C (p.Ser74Pro)
|
|
|
NM_000235.4(LIPA):c.302A>G (p.Asn101Ser)
|
|
|
NM_000235.4(LIPA):c.332C>A (p.Ala111Asp)
|
|
|
NM_000235.4(LIPA):c.343G>A (p.Val115Met)
|
|
|
NM_000235.4(LIPA):c.379C>G (p.Arg127Gly)
|
|
|
NM_000235.4(LIPA):c.440T>C (p.Met147Thr)
|
|
|
NM_000235.4(LIPA):c.511G>T (p.Val171Leu)
|
|
|
NM_000235.4(LIPA):c.517C>T (p.His173Tyr)
|
|
|
NM_000235.4(LIPA):c.588G>A (p.Met196Ile)
|
|
|
NM_000235.4(LIPA):c.690C>A (p.Asp230Glu)
|
|
|
NM_000235.4(LIPA):c.724T>C (p.Trp242Arg)
|
|
|
NM_000235.4(LIPA):c.733A>T (p.Thr245Ser)
|
|
|
NM_000235.4(LIPA):c.749A>C (p.His250Pro)
|
rs747792993
|
|
NM_000235.4(LIPA):c.749A>G (p.His250Arg)
|
|
|
NM_000235.4(LIPA):c.832G>A (p.Asp278Asn)
|
|
|
NM_000235.4(LIPA):c.898G>A (p.Val300Ile)
|
|
|
NM_000235.4(LIPA):c.904T>G (p.Phe302Val)
|
rs1187189503
|
|
NM_000235.4(LIPA):c.91C>G (p.Pro31Ala)
|
|
|
NM_000235.4(LIPA):c.945G>T (p.Lys315Asn)
|
|
|
NM_000235.4(LIPA):c.955C>T (p.His319Tyr)
|
|
|
NM_000235.4(LIPA):c.999G>A (p.Met333Ile)
|
|
|
NM_000237.3(LPL):c.1033G>A (p.Val345Ile)
|
|
|
NM_000237.3(LPL):c.1049C>T (p.Ser350Phe)
|
|
|
NM_000237.3(LPL):c.1115A>C (p.Glu372Ala)
|
|
|
NM_000237.3(LPL):c.1158T>G (p.Asn386Lys)
|
|
|
NM_000237.3(LPL):c.1201G>C (p.Glu401Gln)
|
rs150009614
|
|
NM_000237.3(LPL):c.1234G>C (p.Asp412His)
|
|
|
NM_000237.3(LPL):c.1273G>A (p.Gly425Ser)
|
|
|
NM_000237.3(LPL):c.128T>A (p.Leu43Gln)
|
|
|
NM_000237.3(LPL):c.1294A>G (p.Arg432Gly)
|
|
|
NM_000237.3(LPL):c.1365A>T (p.Lys455Asn)
|
|
|
NM_000237.3(LPL):c.1371G>C (p.Lys457Asn)
|
|
|
NM_000237.3(LPL):c.1372G>T (p.Ala458Ser)
|
|
|
NM_000237.3(LPL):c.1385T>C (p.Phe462Ser)
|
|
|
NM_000237.3(LPL):c.167T>G (p.Leu56Arg)
|
|
|
NM_000237.3(LPL):c.203A>G (p.His68Arg)
|
|
|
NM_000237.3(LPL):c.254C>T (p.Thr85Ile)
|
|
|
NM_000237.3(LPL):c.273G>C (p.Trp91Cys)
|
|
|
NM_000237.3(LPL):c.290C>T (p.Ala97Val)
|
rs201946950
|
|
NM_000237.3(LPL):c.35C>T (p.Ala12Val)
|
|
|
NM_000237.3(LPL):c.37G>T (p.Val13Leu)
|
|
|
NM_000237.3(LPL):c.386A>C (p.Lys129Thr)
|
|
|
NM_000237.3(LPL):c.424A>T (p.Met142Leu)
|
|
|
NM_000237.3(LPL):c.485C>T (p.Ala162Val)
|
|
|
NM_000237.3(LPL):c.56C>A (p.Thr19Asn)
|
|
|
NM_000237.3(LPL):c.592C>T (p.Leu198Phe)
|
|
|
NM_000237.3(LPL):c.598C>T (p.Pro200Ser)
|
|
|
NM_000237.3(LPL):c.653G>A (p.Gly218Asp)
|
|
|
NM_000237.3(LPL):c.68G>A (p.Gly23Glu)
|
|
|
NM_000237.3(LPL):c.743C>T (p.Ala248Val)
|
|
|
NM_000237.3(LPL):c.749G>A (p.Arg250His)
|
|
|
NM_000237.3(LPL):c.79G>T (p.Ala27Ser)
|
|
|
NM_000237.3(LPL):c.898_1019-1238dup
|
|
|
NM_000237.3(LPL):c.8G>A (p.Ser3Asn)
|
|
|
NM_000237.3(LPL):c.911G>C (p.Ser304Thr)
|
|
|
NM_000237.3(LPL):c.914G>C (p.Cys305Ser)
|
|
|
NM_000237.3(LPL):c.916A>G (p.Arg306Gly)
|
|
|
NM_000237.3(LPL):c.949A>T (p.Ile317Phe)
|
|
|
NM_000238.4(KCNH2):c.1043T>A (p.Phe348Tyr)
|
rs794728363
|
|
NM_000238.4(KCNH2):c.104G>C (p.Arg35Pro)
|
|
|
NM_000238.4(KCNH2):c.1123A>G (p.Thr375Ala)
|
rs2116997162
|
|
NM_000238.4(KCNH2):c.1128+5G>A
|
|
|
NM_000238.4(KCNH2):c.1226T>A (p.Val409Glu)
|
rs794728367
|
|
NM_000238.4(KCNH2):c.1396G>T (p.Asp466Tyr)
|
rs199473511
|
|
NM_000238.4(KCNH2):c.1469C>T (p.Ala490Val)
|
rs1801214475
|
|
NM_000238.4(KCNH2):c.1511C>A (p.Ala504Asp)
|
|
|
NM_000238.4(KCNH2):c.1525G>A (p.Asp509Asn)
|
rs370637245
|
|
NM_000238.4(KCNH2):c.1583G>A (p.Arg528Gln)
|
rs199472914
|
|
NM_000238.4(KCNH2):c.1603G>A (p.Val535Met)
|
rs375872367
|
|
NM_000238.4(KCNH2):c.1652T>C (p.Phe551Ser)
|
rs1057524535
|
|
NM_000238.4(KCNH2):c.1675C>T (p.Leu559Phe)
|
rs794728374
|
|
NM_000238.4(KCNH2):c.167G>C (p.Arg56Pro)
|
|
|
NM_000238.4(KCNH2):c.1693G>T (p.Ala565Ser)
|
rs199473518
|
|
NM_000238.4(KCNH2):c.1747A>C (p.Ile583Leu)
|
rs199473427
|
|
NM_000238.4(KCNH2):c.1781G>T (p.Gly594Val)
|
|
|
NM_000238.4(KCNH2):c.1805T>C (p.Leu602Pro)
|
rs876661348
|
|
NM_000238.4(KCNH2):c.1831T>A (p.Tyr611Asn)
|
|
|
NM_000238.4(KCNH2):c.1859G>A (p.Ser620Asn)
|
rs1801161235
|
|
NM_000238.4(KCNH2):c.1869C>T (p.Thr623=)
|
|
|
NM_000238.4(KCNH2):c.1871G>A (p.Ser624Asn)
|
rs777410293
|
|
NM_000238.4(KCNH2):c.1915A>G (p.Ile639Val)
|
|
|
NM_000238.4(KCNH2):c.1922C>A (p.Ser641Tyr)
|
rs199472971
|
|
NM_000238.4(KCNH2):c.1926C>G (p.Ile642Met)
|
rs1801154313
|
|
NM_000238.4(KCNH2):c.1943G>T (p.Gly648Val)
|
|
|
NM_000238.4(KCNH2):c.1946-5C>T
|
|
|
NM_000238.4(KCNH2):c.1965C>G (p.Ile655Met)
|
rs774672362
|
|
NM_000238.4(KCNH2):c.1969G>A (p.Gly657Ser)
|
rs199472978
|
|
NM_000238.4(KCNH2):c.1994G>A (p.Arg665Gln)
|
|
|
NM_000238.4(KCNH2):c.2003C>T (p.Ser668Leu)
|
|
|
NM_000238.4(KCNH2):c.2015G>A (p.Arg672His)
|
rs745370146
|
|
NM_000238.4(KCNH2):c.2110G>A (p.Ala704Thr)
|
|
|
NM_000238.4(KCNH2):c.2134G>A (p.Asp712Asn)
|
|
|
NM_000238.4(KCNH2):c.2142C>G (p.Asn714Lys)
|
|
|
NM_000238.4(KCNH2):c.2145+3G>A
|
rs1378166842
|
|
NM_000238.4(KCNH2):c.2145G>A (p.Ala715=)
|
rs794728384
|
|
NM_000238.4(KCNH2):c.227G>T (p.Arg76Leu)
|
rs868054429
|
|
NM_000238.4(KCNH2):c.2296G>A (p.Gly766Arg)
|
rs1057524377
|
|
NM_000238.4(KCNH2):c.2329A>G (p.Thr777Ala)
|
|
|
NM_000238.4(KCNH2):c.2343C>G (p.Phe781Leu)
|
rs886039215
|
|
NM_000238.4(KCNH2):c.2351G>A (p.Arg784Gln)
|
|
|
NM_000238.4(KCNH2):c.2351G>C (p.Arg784Pro)
|
|
|
NM_000238.4(KCNH2):c.2356T>C (p.Ser786Pro)
|
|
|
NM_000238.4(KCNH2):c.2366T>C (p.Ile789Thr)
|
rs794728388
|
|
NM_000238.4(KCNH2):c.2387T>G (p.Val796Gly)
|
rs1554425163
|
|
NM_000238.4(KCNH2):c.2390C>A (p.Ala797Asp)
|
rs794728389
|
|
NM_000238.4(KCNH2):c.2410A>G (p.Ile804Val)
|
|
|
NM_000238.4(KCNH2):c.2417G>A (p.Gly806Glu)
|
rs199473000
|
|
NM_000238.4(KCNH2):c.2435A>G (p.Tyr812Cys)
|
|
|
NM_000238.4(KCNH2):c.2459G>A (p.Gly820Glu)
|
|
|
NM_000238.4(KCNH2):c.2488C>G (p.Leu830Val)
|
|
|
NM_000238.4(KCNH2):c.2525T>C (p.Leu842Pro)
|
rs1554424818
|
|
NM_000238.4(KCNH2):c.2564G>A (p.Ser855Asn)
|
rs2116940209
|
|
NM_000238.4(KCNH2):c.2593-15_2593-5del
|
|
|
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.2608G>A (p.Gly870Ser)
|
|
|
NM_000238.4(KCNH2):c.2614C>A (p.Pro872Thr)
|
|
|
NM_000238.4(KCNH2):c.2616C>A (p.Pro872=)
|
rs374296728
|
|
NM_000238.4(KCNH2):c.2635G>C (p.Gly879Arg)
|
rs199473040
|
|
NM_000238.4(KCNH2):c.2647C>T (p.Arg883Trp)
|
rs201765446
|
|
NM_000238.4(KCNH2):c.2654G>A (p.Arg885His)
|
rs202194495
|
|
NM_000238.4(KCNH2):c.2666T>C (p.Leu889Ser)
|
|
|
NM_000238.4(KCNH2):c.2668_2670delinsCGCAAG (p.Ser890delinsArgLys)
|
|
|
NM_000238.4(KCNH2):c.2669C>G (p.Ser890Cys)
|
|
|
NM_000238.4(KCNH2):c.2672T>G (p.Phe891Cys)
|
|
|
NM_000238.4(KCNH2):c.2684C>A (p.Thr895Lys)
|
rs199473434
|
|
NM_000238.4(KCNH2):c.2690delinsCGGACAC (p.Lys897delinsThrAspThr)
|
|
|
NM_000238.4(KCNH2):c.2696C>G (p.Thr899Arg)
|
rs1480554629
|
|
NM_000238.4(KCNH2):c.2768C>A (p.Pro923Gln)
|
rs760408746
|
|
NM_000238.4(KCNH2):c.2769_2771delinsAGC (p.Gly924Ala)
|
rs1800969882
|
|
NM_000238.4(KCNH2):c.2770G>A (p.Gly924Arg)
|
rs794728397
|
|
NM_000238.4(KCNH2):c.2771G>A (p.Gly924Glu)
|
rs199473009
|
|
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.2781G>T (p.Trp927Cys)
|
rs866768546
|
|
NM_000238.4(KCNH2):c.2782G>C (p.Gly928Arg)
|
|
|
NM_000238.4(KCNH2):c.2804C>T (p.Pro935Leu)
|
|
|
NM_000238.4(KCNH2):c.284A>C (p.Glu95Ala)
|
rs794728414
|
|
NM_000238.4(KCNH2):c.2853C>A (p.Ser951Arg)
|
rs1443792370
|
|
NM_000238.4(KCNH2):c.2899C>T (p.Pro967Ser)
|
rs1057450060
|
|
NM_000238.4(KCNH2):c.2908G>A (p.Gly970Arg)
|
rs1800959537
|
|
NM_000238.4(KCNH2):c.2962T>G (p.Ser988Ala)
|
rs747237810
|
|
NM_000238.4(KCNH2):c.296A>G (p.Tyr99Cys)
|
rs199472854
|
|
NM_000238.4(KCNH2):c.298C>G (p.Arg100Gly)
|
rs121912515
|
|
NM_000238.4(KCNH2):c.299G>C (p.Arg100Pro)
|
|
|
NM_000238.4(KCNH2):c.302A>G (p.Lys101Arg)
|
rs2117062159
|
|
NM_000238.4(KCNH2):c.3049G>A (p.Ala1017Thr)
|
|
|
NM_000238.4(KCNH2):c.3061A>C (p.Ser1021Arg)
|
|
|
NM_000238.4(KCNH2):c.3092_3105delinsTC (p.Gly1031_Arg1035delinsVal)
|
|
|
NM_000238.4(KCNH2):c.3105_3107dup (p.Gly1036dup)
|
rs794728469
|
|
NM_000238.4(KCNH2):c.3105_3112delinsAC (p.Gly1036_Val1038delinsLeu)
|
|
|
NM_000238.4(KCNH2):c.3112G>T (p.Val1038Leu)
|
rs199473544
|
|
NM_000238.4(KCNH2):c.3140G>A (p.Arg1047His)
|
rs36210421
|
|
NM_000238.4(KCNH2):c.314G>A (p.Cys105Tyr)
|
|
|
NM_000238.4(KCNH2):c.3153G>T (p.Arg1051Ser)
|
rs1800920453
|
|
NM_000238.4(KCNH2):c.3163C>G (p.Arg1055Gly)
|
|
|
NM_000238.4(KCNH2):c.326T>A (p.Leu109Gln)
|
|
|
NM_000238.4(KCNH2):c.3311C>T (p.Thr1104Ile)
|
|
|
NM_000238.4(KCNH2):c.3344T>C (p.Met1115Thr)
|
|
|
NM_000238.4(KCNH2):c.3392G>A (p.Gly1131Asp)
|
|
|
NM_000238.4(KCNH2):c.3410C>A (p.Ser1137Tyr)
|
rs1413026629
|
|
NM_000238.4(KCNH2):c.3445C>T (p.Pro1149Ser)
|
|
|
NM_000238.4(KCNH2):c.345GAA[1] (p.Lys116del)
|
rs864622157
|
|
NM_000238.4(KCNH2):c.3460G>C (p.Gly1154Arg)
|
|
|
NM_000238.4(KCNH2):c.3478T>C (p.Ter1160Gln)
|
|
|
NM_000238.4(KCNH2):c.371T>C (p.Met124Thr)
|
rs199472862
|
|
NM_000238.4(KCNH2):c.374T>G (p.Phe125Cys)
|
rs199473499
|
|
NM_000238.4(KCNH2):c.387C>G (p.Phe129Leu)
|
rs764831888
|
|
NM_000238.4(KCNH2):c.473-3C>T
|
|
|
NM_000238.4(KCNH2):c.47A>G (p.Asp16Gly)
|
|
|
NM_000238.4(KCNH2):c.521C>T (p.Thr174Met)
|
|
|
NM_000238.4(KCNH2):c.551GCGCGGGCG[3] (p.Gly189_Ala190insGlyAlaGly)
|
rs551056698
|
|
NM_000238.4(KCNH2):c.553G>A (p.Ala185Thr)
|
rs2117006639
|
|
NM_000238.4(KCNH2):c.567_575dup (p.Ala193_Val194insProGlyAla)
|
rs1370496092
|
|
NM_000238.4(KCNH2):c.571C>G (p.Pro191Ala)
|
|
|
NM_000238.4(KCNH2):c.607G>A (p.Ala203Thr)
|
rs199472868
|
|
NM_000238.4(KCNH2):c.617_618delinsTT (p.Ser206Ile)
|
rs1060500660
|
|
NM_000238.4(KCNH2):c.629T>A (p.Leu210Gln)
|
|
|
NM_000238.4(KCNH2):c.663C>A (p.His221Gln)
|
|
|
NM_000238.4(KCNH2):c.682G>C (p.Ala228Pro)
|
rs989191027
|
|
NM_000238.4(KCNH2):c.695G>T (p.Arg232Leu)
|
rs886039160
|
|
NM_000238.4(KCNH2):c.712G>T (p.Gly238Cys)
|
rs199473501
|
|
NM_000238.4(KCNH2):c.722C>T (p.Pro241Leu)
|
rs199472871
|
|
NM_000238.4(KCNH2):c.729C>A (p.Ser243Arg)
|
|
|
NM_000238.4(KCNH2):c.730G>A (p.Ala244Thr)
|
|
|
NM_000238.4(KCNH2):c.731C>G (p.Ala244Gly)
|
rs748762712
|
|
NM_000238.4(KCNH2):c.752C>T (p.Pro251Leu)
|
rs1801446130
|
|
NM_000238.4(KCNH2):c.77-5C>T
|
rs72549419
|
|
NM_000238.4(KCNH2):c.854C>T (p.Ala285Val)
|
rs947793868
|
|
NM_000238.4(KCNH2):c.859G>A (p.Asp287Asn)
|
|
|
NM_000238.4(KCNH2):c.865G>C (p.Glu289Gln)
|
|
|
NM_000238.4(KCNH2):c.868G>C (p.Ala290Pro)
|
rs532891158
|
|
NM_000238.4(KCNH2):c.872T>C (p.Met291Thr)
|
rs199472881
|
|
NM_000238.4(KCNH2):c.883G>T (p.Val295Leu)
|
|
|
NM_000238.4(KCNH2):c.893C>T (p.Pro298Leu)
|
|
|
NM_000238.4(KCNH2):c.901C>A (p.Arg301Ser)
|
|
|
NM_000238.4(KCNH2):c.916+1G>A
|
|
|
NM_000238.4(KCNH2):c.923T>G (p.Met308Arg)
|
rs372559632
|
|
NM_000238.4(KCNH2):c.941G>A (p.Gly314Asp)
|
rs1801414464
|
|
NM_000238.4(KCNH2):c.980A>G (p.Tyr327Cys)
|
rs886039013
|
|
NM_000238.4(KCNH2):c.985A>G (p.Thr329Ala)
|
rs946110595
|
|
NM_000238.4(KCNH2):c.98A>C (p.Asn33Thr)
|
rs199473487
|
|
NM_000256.3(MYBPC3):c.-5T>C
|
rs886048383
|
|
NM_000256.3(MYBPC3):c.100G>C (p.Glu34Gln)
|
|
|
NM_000256.3(MYBPC3):c.1036C>T (p.Arg346Cys)
|
rs1236178301
|
|
NM_000256.3(MYBPC3):c.104G>T (p.Arg35Leu)
|
|
|
NM_000256.3(MYBPC3):c.1053G>C (p.Arg351Ser)
|
rs2095893951
|
|
NM_000256.3(MYBPC3):c.1055T>C (p.Leu352Pro)
|
|
|
NM_000256.3(MYBPC3):c.1076AGA[2] (p.Lys361del)
|
rs775069579
|
|
NM_000256.3(MYBPC3):c.1090G>C (p.Ala364Pro)
|
rs794727046
|
|
NM_000256.3(MYBPC3):c.1097A>C (p.Gln366Pro)
|
rs1451314369
|
|
NM_000256.3(MYBPC3):c.1111C>A (p.Pro371Thr)
|
rs1003833483
|
|
NM_000256.3(MYBPC3):c.1140G>T (p.Lys380Asn)
|
rs2095891372
|
|
NM_000256.3(MYBPC3):c.1168C>A (p.His390Asn)
|
|
|
NM_000256.3(MYBPC3):c.1192A>G (p.Lys398Glu)
|
rs2095891272
|
|
NM_000256.3(MYBPC3):c.1213A>G (p.Met405Val)
|
rs727503207
|
|
NM_000256.3(MYBPC3):c.1218C>A (p.Ser406Arg)
|
rs748558425
|
|
NM_000256.3(MYBPC3):c.1224-1G>A
|
|
|
NM_000256.3(MYBPC3):c.1334C>T (p.Thr445Met)
|
|
|
NM_000256.3(MYBPC3):c.1353G>C (p.Glu451Asp)
|
|
|
NM_000256.3(MYBPC3):c.1357C>T (p.Pro453Ser)
|
rs749310275
|
|
NM_000256.3(MYBPC3):c.1364T>G (p.Leu455Arg)
|
|
|
NM_000256.3(MYBPC3):c.137G>A (p.Gly46Asp)
|
|
|
NM_000256.3(MYBPC3):c.1430T>A (p.Val477Glu)
|
|
|
NM_000256.3(MYBPC3):c.1457+4A>G
|
rs886039119
|
|
NM_000256.3(MYBPC3):c.1457+5G>T
|
|
|
NM_000256.3(MYBPC3):c.145A>G (p.Ile49Val)
|
|
|
NM_000256.3(MYBPC3):c.1502A>G (p.Tyr501Cys)
|
rs1595846231
|
|
NM_000256.3(MYBPC3):c.150C>A (p.Ser50Arg)
|
rs368918487
|
|
NM_000256.3(MYBPC3):c.1510AAG[1] (p.Lys505del)
|
rs727504287
|
|
NM_000256.3(MYBPC3):c.1524G>C (p.Gln508His)
|
|
|
NM_000256.3(MYBPC3):c.1543_1545del (p.Asn515del)
|
rs730880643
|
|
NM_000256.3(MYBPC3):c.1546G>A (p.Glu516Lys)
|
rs730880545
|
|
NM_000256.3(MYBPC3):c.1568G>T (p.Gly523Val)
|
|
|
NM_000256.3(MYBPC3):c.1573T>C (p.Tyr525His)
|
rs1555122164
|
|
NM_000256.3(MYBPC3):c.1591G>A (p.Gly531Arg)
|
rs397515912
|
|
NM_000256.3(MYBPC3):c.1591G>T (p.Gly531Trp)
|
rs397515912
|
|
NM_000256.3(MYBPC3):c.1624+5G>A
|
rs730880691
|
|
NM_000256.3(MYBPC3):c.1627AAG[1] (p.Lys544del)
|
rs1555122097
|
|
NM_000256.3(MYBPC3):c.1696T>A (p.Cys566Ser)
|
rs730880695
|
|
NM_000256.3(MYBPC3):c.1720C>T (p.Arg574Trp)
|
rs61897383
|
|
NM_000256.3(MYBPC3):c.1736A>C (p.Lys579Thr)
|
|
|
NM_000256.3(MYBPC3):c.1783A>G (p.Ile595Val)
|
rs730880550
|
|
NM_000256.3(MYBPC3):c.1828G>A (p.Asp610Asn)
|
rs371564200
|
|
NM_000256.3(MYBPC3):c.1829A>T (p.Asp610Val)
|
rs730880554
|
|
NM_000256.3(MYBPC3):c.1830C>G (p.Asp610Glu)
|
rs768049705
|
|
NM_000256.3(MYBPC3):c.1885C>T (p.Leu629Phe)
|
|
|
NM_000256.3(MYBPC3):c.1905G>T (p.Lys635Asn)
|
|
|
NM_000256.3(MYBPC3):c.1927+1G>A
|
rs2142859053
|
|
NM_000256.3(MYBPC3):c.1927G>C (p.Glu643Gln)
|
rs1555121871
|
|
NM_000256.3(MYBPC3):c.1939A>G (p.Ile647Val)
|
rs1565626472
|
|
NM_000256.3(MYBPC3):c.1958G>A (p.Gly653Asp)
|
|
|
NM_000256.3(MYBPC3):c.1961G>A (p.Arg654His)
|
rs1800565
|
|
NM_000256.3(MYBPC3):c.1969G>C (p.Asp657His)
|
|
|
NM_000256.3(MYBPC3):c.1977T>G (p.Ile659Met)
|
|
|
NM_000256.3(MYBPC3):c.2024G>A (p.Gly675Glu)
|
rs2142857647
|
|
NM_000256.3(MYBPC3):c.2063C>T (p.Thr688Met)
|
rs3729946
|
|
NM_000256.3(MYBPC3):c.2067G>T (p.Gln689His)
|
|
|
NM_000256.3(MYBPC3):c.2095C>T (p.Pro699Ser)
|
|
|
NM_000256.3(MYBPC3):c.2149-3C>A
|
|
|
NM_000256.3(MYBPC3):c.2149-4C>T
|
|
|
NM_000256.3(MYBPC3):c.2186CCA[1] (p.Thr730del)
|
|
|
NM_000256.3(MYBPC3):c.2188A>C (p.Thr730Pro)
|
|
|
NM_000256.3(MYBPC3):c.2193G>T (p.Lys731Asn)
|
|
|
NM_000256.3(MYBPC3):c.2240G>T (p.Gly747Val)
|
|
|
NM_000256.3(MYBPC3):c.2265C>A (p.Asn755Lys)
|
rs1060501474
|
|
NM_000256.3(MYBPC3):c.2286C>G (p.Val762=)
|
rs2142856547
|
|
NM_000256.3(MYBPC3):c.2335A>G (p.Lys779Glu)
|
|
|
NM_000256.3(MYBPC3):c.2347G>A (p.Val783Met)
|
rs1060499878
|
|
NM_000256.3(MYBPC3):c.238G>A (p.Ala80Thr)
|
rs730880700
|
|
NM_000256.3(MYBPC3):c.238G>T (p.Ala80Ser)
|
rs730880700
|
|
NM_000256.3(MYBPC3):c.239delinsGAGG (p.Ala80delinsGlyGly)
|
rs727504335
|
|
NM_000256.3(MYBPC3):c.2413+5G>A
|
|
|
NM_000256.3(MYBPC3):c.2414G>A (p.Gly805Asp)
|
rs730880566
|
|
NM_000256.3(MYBPC3):c.2432AGA[3] (p.Lys814del)
|
rs727504288
|
|
NM_000256.3(MYBPC3):c.2434A>G (p.Lys812Glu)
|
|
|
NM_000256.3(MYBPC3):c.2470G>A (p.Asp824Asn)
|
rs774442478
|
|
NM_000256.3(MYBPC3):c.2479C>A (p.Gln827Lys)
|
rs375322174
|
|
NM_000256.3(MYBPC3):c.2483A>G (p.Glu828Gly)
|
|
|
NM_000256.3(MYBPC3):c.2491C>T (p.His831Tyr)
|
|
|
NM_000256.3(MYBPC3):c.25+3A>G
|
|
|
NM_000256.3(MYBPC3):c.2507T>C (p.Met836Thr)
|
rs1555121215
|
|
NM_000256.3(MYBPC3):c.2511C>G (p.Ile837Met)
|
|
|
NM_000256.3(MYBPC3):c.251G>C (p.Gly84Ala)
|
|
|
NM_000256.3(MYBPC3):c.2524T>C (p.Tyr842His)
|
|
|
NM_000256.3(MYBPC3):c.2536G>C (p.Val846Leu)
|
rs747774791
|
|
NM_000256.3(MYBPC3):c.2539T>C (p.Tyr847His)
|
rs768963157
|
|
NM_000256.3(MYBPC3):c.2542G>T (p.Ala848Ser)
|
|
|
NM_000256.3(MYBPC3):c.2542_2543delinsTG (p.Ala848Trp)
|
rs2142855225
|
|
NM_000256.3(MYBPC3):c.2543C>G (p.Ala848Gly)
|
rs730880569
|
|
NM_000256.3(MYBPC3):c.2549A>T (p.Asn850Ile)
|
rs730880570
|
|
NM_000256.3(MYBPC3):c.2560A>T (p.Met854Leu)
|
rs373171036
|
|
NM_000256.3(MYBPC3):c.2566A>G (p.Arg856Gly)
|
|
|
NM_000256.3(MYBPC3):c.2602G>A (p.Gly868Ser)
|
rs775890771
|
|
NM_000256.3(MYBPC3):c.2603-5C>T
|
rs753396472
|
|
NM_000256.3(MYBPC3):c.2618C>A (p.Pro873His)
|
rs371401403
|
|
NM_000256.3(MYBPC3):c.2618C>T (p.Pro873Leu)
|
rs371401403
|
|
NM_000256.3(MYBPC3):c.2624A>G (p.His875Arg)
|
rs774889182
|
|
NM_000256.3(MYBPC3):c.2684G>T (p.Arg895Leu)
|
rs372628478
|
|
NM_000256.3(MYBPC3):c.2708G>T (p.Gly903Val)
|
rs1007623141
|
|
NM_000256.3(MYBPC3):c.2729C>T (p.Pro910Leu)
|
|
|
NM_000256.3(MYBPC3):c.2735G>T (p.Gly912Val)
|
rs867959512
|
|
NM_000256.3(MYBPC3):c.2737+4_2737+5del
|
rs2095881725
|
|
NM_000256.3(MYBPC3):c.2737+4_2737+7del
|
rs1555120911
|
|
NM_000256.3(MYBPC3):c.2788C>G (p.Leu930Val)
|
rs1399854518
|
|
NM_000256.3(MYBPC3):c.2807C>A (p.Thr936Lys)
|
|
|
NM_000256.3(MYBPC3):c.2816G>A (p.Arg939Gln)
|
rs946763177
|
|
NM_000256.3(MYBPC3):c.2826C>G (p.Phe942Leu)
|
|
|
NM_000256.3(MYBPC3):c.2849C>T (p.Ala950Val)
|
rs730880577
|
|
NM_000256.3(MYBPC3):c.2897A>T (p.Glu966Val)
|
rs730880579
|
|
NM_000256.3(MYBPC3):c.2905+3G>C
|
rs1060501483
|
|
NM_000256.3(MYBPC3):c.293-4C>G
|
|
|
NM_000256.3(MYBPC3):c.2938C>G (p.Arg980Gly)
|
rs397515994
|
|
NM_000256.3(MYBPC3):c.293A>G (p.Glu98Gly)
|
|
|
NM_000256.3(MYBPC3):c.2963G>T (p.Gly988Val)
|
rs727504942
|
|
NM_000256.3(MYBPC3):c.2965G>A (p.Glu989Lys)
|
rs727503178
|
|
NM_000256.3(MYBPC3):c.2976C>A (p.Asn992Lys)
|
|
|
NM_000256.3(MYBPC3):c.3001C>A (p.Pro1001Thr)
|
|
|
NM_000256.3(MYBPC3):c.3014T>A (p.Val1005Glu)
|
|
|
NM_000256.3(MYBPC3):c.3057G>A (p.Val1019=)
|
rs750618688
|
|
NM_000256.3(MYBPC3):c.3064C>A (p.Arg1022Ser)
|
|
|
NM_000256.3(MYBPC3):c.3079G>A (p.Asp1027Asn)
|
|
|
NM_000256.3(MYBPC3):c.3083C>T (p.Thr1028Ile)
|
rs397516002
|
|
NM_000256.3(MYBPC3):c.3086T>A (p.Ile1029Asn)
|
rs730880587
|
|
NM_000256.3(MYBPC3):c.3104C>G (p.Ala1035Gly)
|
|
|
NM_000256.3(MYBPC3):c.3107G>T (p.Arg1036Leu)
|
|
|
NM_000256.3(MYBPC3):c.3155T>C (p.Met1052Thr)
|
|
|
NM_000256.3(MYBPC3):c.3160G>A (p.Asp1054Asn)
|
|
|
NM_000256.3(MYBPC3):c.317C>A (p.Pro106His)
|
|
|
NM_000256.3(MYBPC3):c.3185TTG[1] (p.Val1063del)
|
rs1595841732
|
|
NM_000256.3(MYBPC3):c.3188T>C (p.Val1063Ala)
|
rs988454775
|
|
NM_000256.3(MYBPC3):c.3224C>G (p.Thr1075Ser)
|
rs150786409
|
|
NM_000256.3(MYBPC3):c.3290T>C (p.Leu1097Pro)
|
|
|
NM_000256.3(MYBPC3):c.3325A>G (p.Thr1109Ala)
|
|
|
NM_000256.3(MYBPC3):c.3329T>C (p.Met1110Thr)
|
rs1321563978
|
|
NM_000256.3(MYBPC3):c.3330+5G>A
|
rs373746463
|
|
NM_000256.3(MYBPC3):c.3333G>T (p.Glu1111Asp)
|
|
|
NM_000256.3(MYBPC3):c.3335_3337dup (p.Trp1112dup)
|
rs730880673
|
|
NM_000256.3(MYBPC3):c.3347T>C (p.Leu1116Ser)
|
rs886038832
|
|
NM_000256.3(MYBPC3):c.3356A>G (p.Tyr1119Cys)
|
rs1595841315
|
|
NM_000256.3(MYBPC3):c.337G>T (p.Ala113Ser)
|
|
|
NM_000256.3(MYBPC3):c.3467A>G (p.Glu1156Gly)
|
|
|
NM_000256.3(MYBPC3):c.3491-3C>A
|
rs730880592
|
|
NM_000256.3(MYBPC3):c.3497C>G (p.Thr1166Ser)
|
rs1555120318
|
|
NM_000256.3(MYBPC3):c.3499T>C (p.Tyr1167His)
|
|
|
NM_000256.3(MYBPC3):c.3551C>T (p.Thr1184Ile)
|
|
|
NM_000256.3(MYBPC3):c.3560T>C (p.Leu1187Pro)
|
|
|
NM_000256.3(MYBPC3):c.3584G>T (p.Gly1195Val)
|
rs730880595
|
|
NM_000256.3(MYBPC3):c.3593C>T (p.Ala1198Val)
|
rs878853834
|
|
NM_000256.3(MYBPC3):c.3599T>C (p.Leu1200Pro)
|
rs397516028
|
|
NM_000256.3(MYBPC3):c.3605G>A (p.Cys1202Tyr)
|
rs727503170
|
|
NM_000256.3(MYBPC3):c.3617G>A (p.Gly1206Asp)
|
rs1057517769
|
|
NM_000256.3(MYBPC3):c.3628C>T (p.Pro1210Ser)
|
rs1293774054
|
|
NM_000256.3(MYBPC3):c.3644T>A (p.Phe1215Tyr)
|
|
|
NM_000256.3(MYBPC3):c.365C>A (p.Ala122Asp)
|
|
|
NM_000256.3(MYBPC3):c.3669A>T (p.Glu1223Asp)
|
rs1565622424
|
|
NM_000256.3(MYBPC3):c.367C>T (p.Pro123Ser)
|
|
|
NM_000256.3(MYBPC3):c.3683G>C (p.Arg1228Pro)
|
rs528940575
|
|
NM_000256.3(MYBPC3):c.3699G>C (p.Gln1233His)
|
|
|
NM_000256.3(MYBPC3):c.3701G>T (p.Gly1234Val)
|
rs2095877793
|
|
NM_000256.3(MYBPC3):c.3703G>T (p.Val1235Leu)
|
rs1555120162
|
|
NM_000256.3(MYBPC3):c.3751T>C (p.Tyr1251His)
|
rs730880601
|
|
NM_000256.3(MYBPC3):c.3752A>G (p.Tyr1251Cys)
|
rs730880602
|
|
NM_000256.3(MYBPC3):c.3754G>A (p.Val1252Ile)
|
|
|
NM_000256.3(MYBPC3):c.3757T>A (p.Cys1253Ser)
|
|
|
NM_000256.3(MYBPC3):c.3760A>G (p.Arg1254Gly)
|
|
|
NM_000256.3(MYBPC3):c.3764C>A (p.Ala1255Asp)
|
rs727504722
|
|
NM_000256.3(MYBPC3):c.3764C>G (p.Ala1255Gly)
|
rs727504722
|
|
NM_000256.3(MYBPC3):c.3771C>A (p.Asn1257Lys)
|
rs730880603
|
|
NM_000256.3(MYBPC3):c.3778G>C (p.Gly1260Arg)
|
rs1555120117
|
|
NM_000256.3(MYBPC3):c.3781G>C (p.Glu1261Gln)
|
|
|
NM_000256.3(MYBPC3):c.3782_3784dup (p.Glu1261_Ala1262insGlu)
|
|
|
NM_000256.3(MYBPC3):c.3796T>C (p.Cys1266Arg)
|
rs730880608
|
|
NM_000256.3(MYBPC3):c.3797G>A (p.Cys1266Tyr)
|
rs397516041
|
|
NM_000256.3(MYBPC3):c.3797G>T (p.Cys1266Phe)
|
|
|
NM_000256.3(MYBPC3):c.3798C>G (p.Cys1266Trp)
|
rs1312046345
|
|
NM_000256.3(MYBPC3):c.3802C>G (p.Leu1268Val)
|
rs2095877612
|
|
NM_000256.3(MYBPC3):c.380T>G (p.Leu127Arg)
|
|
|
NM_000256.3(MYBPC3):c.3812G>C (p.Arg1271Pro)
|
rs762225417
|
|
NM_000256.3(MYBPC3):c.3814+1G>C
|
rs1057521823
|
|
NM_000256.3(MYBPC3):c.3824_*22del (p.Ter1275Xaa)
|
|
|
NM_000256.3(MYBPC3):c.406G>A (p.Gly136Arg)
|
rs730880613
|
|
NM_000256.3(MYBPC3):c.433C>T (p.Pro145Ser)
|
|
|
NM_000256.3(MYBPC3):c.446C>T (p.Ala149Val)
|
rs779493486
|
|
NM_000256.3(MYBPC3):c.458C>A (p.Pro153His)
|
rs756328813
|
|
NM_000256.3(MYBPC3):c.481C>T (p.Pro161Ser)
|
rs397516053
|
|
NM_000256.3(MYBPC3):c.496G>A (p.Val166Met)
|
rs2095898844
|
|
NM_000256.3(MYBPC3):c.497T>G (p.Val166Gly)
|
rs876661366
|
|
NM_000256.3(MYBPC3):c.503T>C (p.Val168Ala)
|
rs727505267
|
|
NM_000256.3(MYBPC3):c.505+1G>A
|
rs730880620
|
|
NM_000256.3(MYBPC3):c.532G>A (p.Val178Met)
|
rs727503218
|
|
NM_000256.3(MYBPC3):c.533T>A (p.Val178Glu)
|
rs1555123426
|
|
NM_000256.3(MYBPC3):c.539G>A (p.Gly180Asp)
|
rs867571018
|
|
NM_000256.3(MYBPC3):c.566T>A (p.Val189Asp)
|
rs397516060
|
|
NM_000256.3(MYBPC3):c.605A>G (p.Lys202Arg)
|
|
|
NM_000256.3(MYBPC3):c.607G>C (p.Val203Leu)
|
|
|
NM_000256.3(MYBPC3):c.616C>T (p.His206Tyr)
|
|
|
NM_000256.3(MYBPC3):c.635G>C (p.Ser212Thr)
|
|
|
NM_000256.3(MYBPC3):c.654+5G>C
|
rs397516066
|
|
NM_000256.3(MYBPC3):c.655-5C>G
|
|
|
NM_000256.3(MYBPC3):c.676A>G (p.Ile226Val)
|
rs1336201335
|
|
NM_000256.3(MYBPC3):c.68C>A (p.Ala23Glu)
|
|
|
NM_000256.3(MYBPC3):c.716G>A (p.Cys239Tyr)
|
rs776541959
|
|
NM_000256.3(MYBPC3):c.721G>A (p.Val241Met)
|
rs886039000
|
|
NM_000256.3(MYBPC3):c.727A>C (p.Thr243Pro)
|
rs730880625
|
|
NM_000256.3(MYBPC3):c.756C>A (p.Phe252Leu)
|
rs876661367
|
|
NM_000256.3(MYBPC3):c.772+4A>C
|
|
|
NM_000256.3(MYBPC3):c.772+5G>A
|
rs730880626
|
|
NM_000256.3(MYBPC3):c.773-4C>A
|
|
|
NM_000256.3(MYBPC3):c.774G>A (p.Glu258=)
|
|
|
NM_000256.3(MYBPC3):c.798CCT[1] (p.Leu268del)
|
|
|
NM_000256.3(MYBPC3):c.806C>T (p.Ser269Leu)
|
|
|
NM_000256.3(MYBPC3):c.821+3G>C
|
rs727503213
|
|
NM_000256.3(MYBPC3):c.821C>A (p.Thr274Lys)
|
rs748746951
|
|
NM_000256.3(MYBPC3):c.851+4C>T
|
|
|
NM_000256.3(MYBPC3):c.872G>T (p.Gly291Val)
|
rs1555122934
|
|
NM_000256.3(MYBPC3):c.884T>C (p.Phe295Ser)
|
rs876661369
|
|
NM_000256.3(MYBPC3):c.905+1G>T
|
rs767698543
|
|
NM_000256.3(MYBPC3):c.905G>C (p.Arg302Thr)
|
rs1414396886
|
|
NM_000256.3(MYBPC3):c.926+5G>A
|
|
|
NM_000256.3(MYBPC3):c.932C>T (p.Ser311Leu)
|
rs193922386
|
|
NM_000256.3(MYBPC3):c.97A>G (p.Thr33Ala)
|
rs1265723882
|
|
NM_000257.4(MYH7):c.-2C>T
|
|
|
NM_000257.4(MYH7):c.1014G>T (p.Val338=)
|
|
|
NM_000257.4(MYH7):c.1046T>G (p.Met349Arg)
|
|
|
NM_000257.4(MYH7):c.1059A>T (p.Thr353=)
|
rs1555338461
|
|
NM_000257.4(MYH7):c.1060_1062delinsCGT (p.Gly354Arg)
|
|
|
NM_000257.4(MYH7):c.1061G>A (p.Gly354Asp)
|
rs2138677416
|
|
NM_000257.4(MYH7):c.1070T>G (p.Met357Arg)
|
rs730880865
|
|
NM_000257.4(MYH7):c.1084A>G (p.Met362Val)
|
|
|
NM_000257.4(MYH7):c.109G>A (p.Val37Ile)
|
|
|
NM_000257.4(MYH7):c.10T>C (p.Ser4Pro)
|
|
|
NM_000257.4(MYH7):c.1129G>A (p.Gly377Ser)
|
rs773599095
|
|
NM_000257.4(MYH7):c.1166G>A (p.Gly389Glu)
|
rs727503268
|
|
NM_000257.4(MYH7):c.1172A>G (p.Asn391Ser)
|
rs1566535452
|
|
NM_000257.4(MYH7):c.1179del (p.Asp394fs)
|
|
|
NM_000257.4(MYH7):c.1184T>G (p.Leu395Arg)
|
rs1555338374
|
|
NM_000257.4(MYH7):c.1191G>C (p.Lys397Asn)
|
|
|
NM_000257.4(MYH7):c.1208G>C (p.Arg403Pro)
|
rs121913624
|
|
NM_000257.4(MYH7):c.1216G>A (p.Val406Met)
|
rs1422611896
|
|
NM_000257.4(MYH7):c.1224T>G (p.Asn408Lys)
|
|
|
NM_000257.4(MYH7):c.1231G>T (p.Val411Phe)
|
|
|
NM_000257.4(MYH7):c.1257+3G>A
|
|
|
NM_000257.4(MYH7):c.1258-3_1258-2delinsAT
|
rs1555338344
|
|
NM_000257.4(MYH7):c.1268C>T (p.Ala423Val)
|
rs1177694963
|
|
NM_000257.4(MYH7):c.1274G>C (p.Gly425Ala)
|
rs1555338336
|
|
NM_000257.4(MYH7):c.1291G>A (p.Val431Met)
|
rs606231322
|
|
NM_000257.4(MYH7):c.1331A>G (p.Asn444Ser)
|
rs730880159
|
|
NM_000257.4(MYH7):c.1346C>A (p.Thr449Asn)
|
|
|
NM_000257.4(MYH7):c.1348A>G (p.Lys450Glu)
|
rs1403027088
|
|
NM_000257.4(MYH7):c.1349A>G (p.Lys450Arg)
|
|
|
NM_000257.4(MYH7):c.135G>C (p.Glu45Asp)
|
rs397516102
|
|
NM_000257.4(MYH7):c.1366_1371dup (p.Phe456_Ile457dup)
|
rs1386136433
|
|
NM_000257.4(MYH7):c.1373G>T (p.Gly458Val)
|
rs1595086725
|
|
NM_000257.4(MYH7):c.1395C>G (p.Phe465Leu)
|
rs45508293
|
|
NM_000257.4(MYH7):c.1396G>A (p.Glu466Lys)
|
rs4981473
|
|
NM_000257.4(MYH7):c.1408-1G>A
|
|
|
NM_000257.4(MYH7):c.1419T>G (p.Phe473Leu)
|
|
|
NM_000257.4(MYH7):c.1432A>G (p.Ile478Val)
|
rs730880873
|
|
NM_000257.4(MYH7):c.1435A>G (p.Asn479Asp)
|
rs1555338261
|
|
NM_000257.4(MYH7):c.1462T>A (p.Phe488Ile)
|
rs730880874
|
|
NM_000257.4(MYH7):c.1479G>A (p.Met493Ile)
|
rs730880876
|
|
NM_000257.4(MYH7):c.1501T>C (p.Tyr501His)
|
|
|
NM_000257.4(MYH7):c.1522T>C (p.Trp508Arg)
|
|
|
NM_000257.4(MYH7):c.1548C>A (p.Asp516Glu)
|
rs2138673993
|
|
NM_000257.4(MYH7):c.1566C>A (p.Asp522Glu)
|
|
|
NM_000257.4(MYH7):c.1578+1G>A
|
rs1892788026
|
|
NM_000257.4(MYH7):c.1588A>G (p.Ile530Val)
|
rs771831848
|
|
NM_000257.4(MYH7):c.1598T>A (p.Ile533Asn)
|
rs397516114
|
|
NM_000257.4(MYH7):c.1607A>G (p.Glu536Gly)
|
rs730880877
|
|
NM_000257.4(MYH7):c.1611G>C (p.Glu537Asp)
|
|
|
NM_000257.4(MYH7):c.1648G>T (p.Ala550Ser)
|
|
|
NM_000257.4(MYH7):c.1649C>A (p.Ala550Asp)
|
rs1188606962
|
|
NM_000257.4(MYH7):c.1702A>G (p.Asn568Asp)
|
|
|
NM_000257.4(MYH7):c.1711G>A (p.Gly571Arg)
|
rs730880879
|
|
NM_000257.4(MYH7):c.1732T>C (p.Ser578Pro)
|
|
|
NM_000257.4(MYH7):c.1753A>T (p.Ile585Phe)
|
rs886038845
|
|
NM_000257.4(MYH7):c.1785GAA[1] (p.Lys596del)
|
|
|
NM_000257.4(MYH7):c.1795G>T (p.Asp599Tyr)
|
|
|
NM_000257.4(MYH7):c.1805A>G (p.Asn602Ser)
|
rs730880880
|
|
NM_000257.4(MYH7):c.1811C>T (p.Thr604Ile)
|
rs730880881
|
|
NM_000257.4(MYH7):c.1870T>A (p.Tyr624Asn)
|
rs1555338113
|
|
NM_000257.4(MYH7):c.1876G>A (p.Gly626Arg)
|
rs876661370
|
|
NM_000257.4(MYH7):c.1884_1888+15del
|
|
|
NM_000257.4(MYH7):c.1925C>T (p.Ser642Leu)
|
rs121913646
|
|
NM_000257.4(MYH7):c.194_201+26delinsGACT
|
|
|
NM_000257.4(MYH7):c.1968C>G (p.Asn656Lys)
|
|
|
NM_000257.4(MYH7):c.1977G>C (p.Met659Ile)
|
|
|
NM_000257.4(MYH7):c.1982A>G (p.Asn661Ser)
|
rs1060501435
|
|
NM_000257.4(MYH7):c.1994C>T (p.Thr665Ile)
|
rs1892712828
|
|
NM_000257.4(MYH7):c.19G>A (p.Ala7Thr)
|
|
|
NM_000257.4(MYH7):c.1A>G (p.Met1Val)
|
rs139250539
|
|
NM_000257.4(MYH7):c.2006T>C (p.Phe669Ser)
|
|
|
NM_000257.4(MYH7):c.201+4G>A
|
|
|
NM_000257.4(MYH7):c.2024C>G (p.Pro675Arg)
|
|
|
NM_000257.4(MYH7):c.2032A>G (p.Thr678Ala)
|
|
|
NM_000257.4(MYH7):c.2063T>C (p.Leu688Pro)
|
rs730880731
|
|
NM_000257.4(MYH7):c.2141T>C (p.Leu714Pro)
|
rs2138668786
|
|
NM_000257.4(MYH7):c.2145C>A (p.Tyr715Ter)
|
|
|
NM_000257.4(MYH7):c.2149G>A (p.Asp717Asn)
|
rs1057524857
|
|
NM_000257.4(MYH7):c.2162+1G>A
|
rs752554104
|
|
NM_000257.4(MYH7):c.2168G>T (p.Arg723Leu)
|
|
|
NM_000257.4(MYH7):c.2197G>A (p.Gly733Arg)
|
|
|
NM_000257.4(MYH7):c.2206A>T (p.Ile736Phe)
|
|
|
NM_000257.4(MYH7):c.2260A>C (p.Asn754His)
|
|
|
NM_000257.4(MYH7):c.2260A>G (p.Asn754Asp)
|
|
|
NM_000257.4(MYH7):c.2266T>C (p.Tyr756His)
|
|
|
NM_000257.4(MYH7):c.2275G>T (p.Gly759Cys)
|
|
|
NM_000257.4(MYH7):c.2284A>G (p.Lys762Glu)
|
|
|
NM_000257.4(MYH7):c.2286+3G>A
|
|
|
NM_000257.4(MYH7):c.2287G>A (p.Val763Met)
|
rs727504253
|
|
NM_000257.4(MYH7):c.2326del (p.Glu775_Met776insTer)
|
|
|
NM_000257.4(MYH7):c.2332G>A (p.Asp778Asn)
|
rs730880895
|
|
NM_000257.4(MYH7):c.2341C>A (p.Leu781Met)
|
rs1348730180
|
|
NM_000257.4(MYH7):c.2347C>T (p.Arg783Cys)
|
rs727503258
|
|
NM_000257.4(MYH7):c.2348G>T (p.Arg783Leu)
|
rs397516142
|
|
NM_000257.4(MYH7):c.2350A>T (p.Ile784Phe)
|
|
|
NM_000257.4(MYH7):c.2377C>T (p.Arg793Ter)
|
rs140175704
|
|
NM_000257.4(MYH7):c.2386C>T (p.Leu796Phe)
|
rs1222361739
|
|
NM_000257.4(MYH7):c.240C>A (p.Asn80Lys)
|
rs200493975
|
|
NM_000257.4(MYH7):c.2423+1G>A
|
rs113580172
|
|
NM_000257.4(MYH7):c.2424-2A>G
|
|
|
NM_000257.4(MYH7):c.2432T>G (p.Leu811Arg)
|
|
|
NM_000257.4(MYH7):c.2441T>G (p.Ile814Ser)
|
rs2138666332
|
|
NM_000257.4(MYH7):c.2446T>C (p.Trp816Arg)
|
rs1555337763
|
|
NM_000257.4(MYH7):c.2451C>A (p.Asn817Lys)
|
rs876661372
|
|
NM_000257.4(MYH7):c.2468G>A (p.Gly823Glu)
|
|
|
NM_000257.4(MYH7):c.2471T>C (p.Val824Ala)
|
rs727503255
|
|
NM_000257.4(MYH7):c.2473A>C (p.Lys825Gln)
|
rs730880743
|
|
NM_000257.4(MYH7):c.2480G>T (p.Trp827Leu)
|
rs542565151
|
|
NM_000257.4(MYH7):c.2481G>T (p.Trp827Cys)
|
|
|
NM_000257.4(MYH7):c.2497T>C (p.Tyr833His)
|
rs730880746
|
|
NM_000257.4(MYH7):c.2523G>C (p.Lys841Asn)
|
|
|
NM_000257.4(MYH7):c.2536G>A (p.Glu846Lys)
|
rs730880748
|
|
NM_000257.4(MYH7):c.2548G>A (p.Ala850Thr)
|
rs1060499880
|
|
NM_000257.4(MYH7):c.2549C>G (p.Ala850Gly)
|
|
|
NM_000257.4(MYH7):c.2566T>C (p.Phe856Leu)
|
rs1555337717
|
|
NM_000257.4(MYH7):c.2594A>T (p.Lys865Met)
|
rs758891557
|
|
NM_000257.4(MYH7):c.2618T>C (p.Leu873Pro)
|
rs1555337701
|
|
NM_000257.4(MYH7):c.2620GAG[1] (p.Glu875del)
|
rs397516159
|
|
NM_000257.4(MYH7):c.2632G>A (p.Val878Met)
|
rs730880751
|
|
NM_000257.4(MYH7):c.2647G>A (p.Glu883Lys)
|
rs1212642361
|
|
NM_000257.4(MYH7):c.2649GAA[1] (p.Lys884del)
|
rs193922387
|
|
NM_000257.4(MYH7):c.2666T>A (p.Leu889His)
|
rs886038813
|
|
NM_000257.4(MYH7):c.2678C>T (p.Ala893Val)
|
rs727503254
|
|
NM_000257.4(MYH7):c.2679G>A (p.Ala893=)
|
rs765038766
|
|
NM_000257.4(MYH7):c.2680G>A (p.Glu894Lys)
|
rs2138664054
|
|
NM_000257.4(MYH7):c.2714G>A (p.Cys905Tyr)
|
rs730880757
|
|
NM_000257.4(MYH7):c.2719C>T (p.Gln907Ter)
|
|
|
NM_000257.4(MYH7):c.2734A>G (p.Lys912Glu)
|
rs730880758
|
|
NM_000257.4(MYH7):c.2736G>T (p.Lys912Asn)
|
rs1555337597
|
|
NM_000257.4(MYH7):c.2762A>C (p.Glu921Ala)
|
rs779467831
|
|
NM_000257.4(MYH7):c.2779G>T (p.Glu927Ter)
|
|
|
NM_000257.4(MYH7):c.2783A>C (p.Asp928Ala)
|
rs727504558
|
|
NM_000257.4(MYH7):c.2783A>G (p.Asp928Gly)
|
|
|
NM_000257.4(MYH7):c.2783A>T (p.Asp928Val)
|
rs727504558
|
|
NM_000257.4(MYH7):c.2787G>C (p.Glu929Asp)
|
|
|
NM_000257.4(MYH7):c.2792A>G (p.Glu931Gly)
|
rs730880760
|
|
NM_000257.4(MYH7):c.2819A>C (p.Lys940Thr)
|
|
|
NM_000257.4(MYH7):c.2858A>T (p.Asp953Val)
|
rs730880901
|
|
NM_000257.4(MYH7):c.2862C>G (p.Ile954Met)
|
|
|
NM_000257.4(MYH7):c.2868T>A (p.Asp956Glu)
|
rs140718120
|
|
NM_000257.4(MYH7):c.2882T>G (p.Leu961Arg)
|
rs727504374
|
|
NM_000257.4(MYH7):c.2891T>C (p.Val964Ala)
|
rs778517353
|
|
NM_000257.4(MYH7):c.2923-5G>A
|
rs779010466
|
|
NM_000257.4(MYH7):c.2923G>A (p.Val975Met)
|
rs1892576769
|
|
NM_000257.4(MYH7):c.298G>A (p.Ala100Thr)
|
rs730880154
|
|
NM_000257.4(MYH7):c.3013C>G (p.Gln1005Glu)
|
rs1892572355
|
|
NM_000257.4(MYH7):c.3020T>C (p.Leu1007Pro)
|
rs730880763
|
|
NM_000257.4(MYH7):c.3100-5A>G
|
rs780522390
|
|
NM_000257.4(MYH7):c.3157C>T (p.Arg1053Trp)
|
rs730880903
|
|
NM_000257.4(MYH7):c.3172G>A (p.Asp1058Asn)
|
rs730880770
|
|
NM_000257.4(MYH7):c.3173A>G (p.Asp1058Gly)
|
|
|
NM_000257.4(MYH7):c.3175del (p.Asp1058_Leu1059insTer)
|
|
|
NM_000257.4(MYH7):c.3229_3240del (p.Asp1077_Leu1080del)
|
|
|
NM_000257.4(MYH7):c.323G>A (p.Arg108His)
|
rs730880832
|
|
NM_000257.4(MYH7):c.3251A>C (p.Asp1084Ala)
|
|
|
NM_000257.4(MYH7):c.3266C>T (p.Ala1089Val)
|
|
|
NM_000257.4(MYH7):c.3274G>T (p.Ala1092Ser)
|
|
|
NM_000257.4(MYH7):c.3305G>C (p.Ser1102Thr)
|
|
|
NM_000257.4(MYH7):c.3320A>C (p.Lys1107Thr)
|
rs886038988
|
|
NM_000257.4(MYH7):c.3336+3G>A
|
rs397516180
|
|
NM_000257.4(MYH7):c.3336+4_3336+6del
|
|
|
NM_000257.4(MYH7):c.3337-2_3337delinsCAGA
|
rs1892420744
|
|
NM_000257.4(MYH7):c.336G>C (p.Trp112Cys)
|
|
|
NM_000257.4(MYH7):c.3373G>A (p.Glu1125Lys)
|
rs730880904
|
|
NM_000257.4(MYH7):c.3373G>C (p.Glu1125Gln)
|
rs730880904
|
|
NM_000257.4(MYH7):c.341T>C (p.Ile114Thr)
|
rs730880833
|
|
NM_000257.4(MYH7):c.3430GAG[1] (p.Glu1145del)
|
|
|
NM_000257.4(MYH7):c.3445C>G (p.Arg1149Gly)
|
|
|
NM_000257.4(MYH7):c.3446G>C (p.Arg1149Pro)
|
rs768978215
|
|
NM_000257.4(MYH7):c.345+1G>A
|
rs112907315
|
|
NM_000257.4(MYH7):c.3469A>G (p.Thr1157Ala)
|
rs730880775
|
|
NM_000257.4(MYH7):c.3492C>A (p.Asn1164Lys)
|
rs730880777
|
|
NM_000257.4(MYH7):c.3499C>A (p.Arg1167Ser)
|
|
|
NM_000257.4(MYH7):c.353C>A (p.Ser118Ter)
|
|
|
NM_000257.4(MYH7):c.3545C>T (p.Thr1182Met)
|
|
|
NM_000257.4(MYH7):c.3548T>A (p.Leu1183Gln)
|
|
|
NM_000257.4(MYH7):c.3569C>T (p.Ala1190Val)
|
|
|
NM_000257.4(MYH7):c.3575T>G (p.Leu1192Arg)
|
|
|
NM_000257.4(MYH7):c.3577C>A (p.Arg1193Ser)
|
rs886039090
|
|
NM_000257.4(MYH7):c.358C>T (p.Leu120Phe)
|
|
|
NM_000257.4(MYH7):c.3613G>A (p.Glu1205Lys)
|
rs727505026
|
|
NM_000257.4(MYH7):c.3620T>A (p.Ile1207Asn)
|
rs730880780
|
|
NM_000257.4(MYH7):c.3621C>G (p.Ile1207Met)
|
rs529700838
|
|
NM_000257.4(MYH7):c.3622G>A (p.Asp1208Asn)
|
rs730880781
|
|
NM_000257.4(MYH7):c.3631C>G (p.Gln1211Glu)
|
rs1892401667
|
|
NM_000257.4(MYH7):c.3658_3660del (p.Glu1220del)
|
rs397516190
|
|
NM_000257.4(MYH7):c.3667G>A (p.Glu1223Lys)
|
rs794727410
|
|
NM_000257.4(MYH7):c.3667G>C (p.Glu1223Gln)
|
rs794727410
|
|
NM_000257.4(MYH7):c.3690C>A (p.Asp1230Glu)
|
rs370750044
|
|
NM_000257.4(MYH7):c.3709C>G (p.Gln1237Glu)
|
|
|
NM_000257.4(MYH7):c.3721G>T (p.Ala1241Ser)
|
rs757538583
|
|
NM_000257.4(MYH7):c.3740A>T (p.Lys1247Met)
|
|
|
NM_000257.4(MYH7):c.3740del (p.Lys1247fs)
|
rs1384488225
|
|
NM_000257.4(MYH7):c.3748C>T (p.Arg1250Trp)
|
rs727503249
|
|
NM_000257.4(MYH7):c.374T>A (p.Val125Asp)
|
|
|
NM_000257.4(MYH7):c.3788C>T (p.Ala1263Val)
|
rs758889483
|
|
NM_000257.4(MYH7):c.3823A>C (p.Ser1275Arg)
|
rs730880784
|
|
NM_000257.4(MYH7):c.3829C>T (p.Arg1277Trp)
|
rs727503248
|
|
NM_000257.4(MYH7):c.3830G>C (p.Arg1277Pro)
|
rs397516195
|
|
NM_000257.4(MYH7):c.3842A>G (p.Gln1281Arg)
|
rs2138652185
|
|
NM_000257.4(MYH7):c.3854G>A (p.Gly1285Asp)
|
|
|
NM_000257.4(MYH7):c.3907C>T (p.Arg1303Ter)
|
rs1443114333
|
|
NM_000257.4(MYH7):c.3908G>A (p.Arg1303Gln)
|
rs727505325
|
|
NM_000257.4(MYH7):c.3934C>G (p.Leu1312Val)
|
rs886050419
|
|
NM_000257.4(MYH7):c.395C>T (p.Pro132Leu)
|
rs2138684739
|
|
NM_000257.4(MYH7):c.3961_3963delinsAAA (p.Glu1321Lys)
|
rs886038864
|
|
NM_000257.4(MYH7):c.3972G>T (p.Lys1324Asn)
|
|
|
NM_000257.4(MYH7):c.4014T>G (p.His1338Gln)
|
|
|
NM_000257.4(MYH7):c.4030C>T (p.Arg1344Trp)
|
rs727504352
|
|
NM_000257.4(MYH7):c.4036C>A (p.Gln1346Lys)
|
rs730880787
|
|
NM_000257.4(MYH7):c.4036C>G (p.Gln1346Glu)
|
rs730880787
|
|
NM_000257.4(MYH7):c.4042G>C (p.Glu1348Gln)
|
|
|
NM_000257.4(MYH7):c.4049A>G (p.Glu1350Gly)
|
|
|
NM_000257.4(MYH7):c.4057G>A (p.Ala1353Thr)
|
|
|
NM_000257.4(MYH7):c.4063G>A (p.Ala1355Thr)
|
rs755058300
|
|
NM_000257.4(MYH7):c.4070T>G (p.Leu1357Arg)
|
|
|
NM_000257.4(MYH7):c.4079T>C (p.Val1360Ala)
|
rs730880789
|
|
NM_000257.4(MYH7):c.4099G>A (p.Glu1367Lys)
|
rs1555336835
|
|
NM_000257.4(MYH7):c.4126G>A (p.Glu1376Lys)
|
rs730880791
|
|
NM_000257.4(MYH7):c.4138A>G (p.Ile1380Val)
|
rs777589215
|
|
NM_000257.4(MYH7):c.4156C>G (p.Leu1386Val)
|
|
|
NM_000257.4(MYH7):c.4159G>A (p.Glu1387Lys)
|
rs730880792
|
|
NM_000257.4(MYH7):c.4159G>C (p.Glu1387Gln)
|
rs730880792
|
|
NM_000257.4(MYH7):c.4187G>A (p.Arg1396Gln)
|
rs370069461
|
|
NM_000257.4(MYH7):c.4199C>G (p.Ala1400Gly)
|
rs730880794
|
|
NM_000257.4(MYH7):c.4222A>G (p.Asn1408Asp)
|
|
|
NM_000257.4(MYH7):c.4224T>A (p.Asn1408Lys)
|
|
|
NM_000257.4(MYH7):c.4234T>C (p.Ser1412Pro)
|
|
|
NM_000257.4(MYH7):c.4240C>A (p.Leu1414Met)
|
rs201895208
|
|
NM_000257.4(MYH7):c.4250C>T (p.Thr1417Ile)
|
rs1057524383
|
|
NM_000257.4(MYH7):c.4256A>G (p.His1419Arg)
|
rs397516206
|
|
NM_000257.4(MYH7):c.425A>G (p.Tyr142Cys)
|
|
|
NM_000257.4(MYH7):c.4276G>A (p.Glu1426Lys)
|
rs397516208
|
|
NM_000257.4(MYH7):c.428G>T (p.Arg143Leu)
|
rs397516209
|
|
NM_000257.4(MYH7):c.431G>A (p.Gly144Asp)
|
rs730880834
|
|
NM_000257.4(MYH7):c.4371G>C (p.Lys1457Asn)
|
rs1555336697
|
|
NM_000257.4(MYH7):c.4382A>G (p.Glu1461Gly)
|
rs995126992
|
|
NM_000257.4(MYH7):c.4411C>T (p.Gln1471Ter)
|
rs397516216
|
|
NM_000257.4(MYH7):c.4457A>G (p.Asn1486Ser)
|
rs2138645374
|
|
NM_000257.4(MYH7):c.4460C>T (p.Ala1487Val)
|
rs1595074732
|
|
NM_000257.4(MYH7):c.4469A>G (p.Glu1490Gly)
|
|
|
NM_000257.4(MYH7):c.4493_4494delinsAT (p.Phe1498Tyr)
|
rs2138645175
|
|
NM_000257.4(MYH7):c.4496A>G (p.Lys1499Arg)
|
|
|
NM_000257.4(MYH7):c.4519+1G>A
|
|
|
NM_000257.4(MYH7):c.452C>T (p.Pro151Leu)
|
rs730880837
|
|
NM_000257.4(MYH7):c.4532A>G (p.Asp1511Gly)
|
|
|
NM_000257.4(MYH7):c.4571A>C (p.His1524Pro)
|
rs767148171
|
|
NM_000257.4(MYH7):c.457C>T (p.His153Tyr)
|
|
|
NM_000257.4(MYH7):c.4585G>T (p.Val1529Phe)
|
|
|
NM_000257.4(MYH7):c.4589G>A (p.Arg1530Gln)
|
rs730880803
|
|
NM_000257.4(MYH7):c.460A>G (p.Ile154Val)
|
rs730880838
|
|
NM_000257.4(MYH7):c.4642G>A (p.Glu1548Lys)
|
|
|
NM_000257.4(MYH7):c.4644+5G>C
|
rs730880797
|
|
NM_000257.4(MYH7):c.4645-1G>C
|
|
|
NM_000257.4(MYH7):c.4653_4655delinsCCTCCT (p.Glu1552delinsLeuLeu)
|
|
|
NM_000257.4(MYH7):c.4660G>A (p.Glu1554Lys)
|
rs142694139
|
|
NM_000257.4(MYH7):c.467C>T (p.Ser156Phe)
|
|
|
NM_000257.4(MYH7):c.4699C>T (p.Gln1567Ter)
|
rs1892204411
|
|
NM_000257.4(MYH7):c.4702A>G (p.Ile1568Val)
|
rs1892204171
|
|
NM_000257.4(MYH7):c.4720C>T (p.Arg1574Trp)
|
rs397516227
|
|
NM_000257.4(MYH7):c.4741G>A (p.Glu1581Lys)
|
rs1892202458
|
|
NM_000257.4(MYH7):c.4747A>T (p.Met1583Leu)
|
rs1466998230
|
|
NM_000257.4(MYH7):c.4828G>C (p.Glu1610Gln)
|
rs730880810
|
|
NM_000257.4(MYH7):c.4872G>T (p.Glu1624Asp)
|
rs766561921
|
|
NM_000257.4(MYH7):c.4876G>A (p.Glu1626Lys)
|
|
|
NM_000257.4(MYH7):c.487C>T (p.Gln163Ter)
|
rs727505011
|
|
NM_000257.4(MYH7):c.4895C>A (p.Ala1632Asp)
|
rs1435525455
|
|
NM_000257.4(MYH7):c.4899C>A (p.Asn1633Lys)
|
|
|
NM_000257.4(MYH7):c.4900C>T (p.Arg1634Cys)
|
rs397516232
|
|
NM_000257.4(MYH7):c.4901G>A (p.Arg1634His)
|
rs545875689
|
|
NM_000257.4(MYH7):c.4954-5del
|
|
|
NM_000257.4(MYH7):c.4960del (p.Gln1654fs)
|
|
|
NM_000257.4(MYH7):c.4985G>T (p.Arg1662Leu)
|
rs370328209
|
|
NM_000257.4(MYH7):c.5005G>T (p.Glu1669Ter)
|
rs45620235
|
|
NM_000257.4(MYH7):c.5017A>G (p.Ile1673Val)
|
rs753907340
|
|
NM_000257.4(MYH7):c.514C>A (p.Gln172Lys)
|
|
|
NM_000257.4(MYH7):c.5157+4del
|
|
|
NM_000257.4(MYH7):c.521T>A (p.Ile174Asn)
|
rs1555338750
|
|
NM_000257.4(MYH7):c.5228A>G (p.Glu1743Gly)
|
rs1892152784
|
|
NM_000257.4(MYH7):c.5245A>G (p.Arg1749Gly)
|
rs562465062
|
|
NM_000257.4(MYH7):c.5255A>G (p.Glu1752Gly)
|
rs730880813
|
|
NM_000257.4(MYH7):c.530C>G (p.Thr177Ser)
|
|
|
NM_000257.4(MYH7):c.5317dup (p.Gln1773fs)
|
|
|
NM_000257.4(MYH7):c.5339A>T (p.Glu1780Val)
|
|
|
NM_000257.4(MYH7):c.5344A>G (p.Met1782Val)
|
rs727504385
|
|
NM_000257.4(MYH7):c.5360A>G (p.Glu1787Gly)
|
|
|
NM_000257.4(MYH7):c.538T>A (p.Ser180Thr)
|
rs1555338704
|
|
NM_000257.4(MYH7):c.5395G>A (p.Glu1799Lys)
|
rs730880816
|
|
NM_000257.4(MYH7):c.5410G>A (p.Ala1804Thr)
|
rs730880818
|
|
NM_000257.4(MYH7):c.5411C>G (p.Ala1804Gly)
|
rs970169331
|
|
NM_000257.4(MYH7):c.5423G>A (p.Gly1808Asp)
|
|
|
NM_000257.4(MYH7):c.5440A>G (p.Lys1814Glu)
|
|
|
NM_000257.4(MYH7):c.5458C>A (p.Arg1820=)
|
rs145734640
|
|
NM_000257.4(MYH7):c.5458C>T (p.Arg1820Trp)
|
rs145734640
|
|
NM_000257.4(MYH7):c.5470_5471delinsGG (p.Asn1824Gly)
|
rs1595071680
|
|
NM_000257.4(MYH7):c.5481G>T (p.Glu1827Asp)
|
|
|
NM_000257.4(MYH7):c.5493G>T (p.Lys1831Asn)
|
|
|
NM_000257.4(MYH7):c.5494C>T (p.Arg1832Cys)
|
rs201865159
|
|
NM_000257.4(MYH7):c.5499C>A (p.Asn1833Lys)
|
|
|
NM_000257.4(MYH7):c.5504_5505del (p.Glu1835fs)
|
|
|
NM_000257.4(MYH7):c.5534G>A (p.Arg1845Gln)
|
rs730880822
|
|
NM_000257.4(MYH7):c.5624T>C (p.Val1875Ala)
|
rs886038830
|
|
NM_000257.4(MYH7):c.5638C>G (p.Arg1880Gly)
|
rs1057522617
|
|
NM_000257.4(MYH7):c.5638C>T (p.Arg1880Cys)
|
rs1057522617
|
|
NM_000257.4(MYH7):c.5639G>T (p.Arg1880Leu)
|
|
|
NM_000257.4(MYH7):c.5690G>A (p.Arg1897His)
|
rs727503240
|
|
NM_000257.4(MYH7):c.5704G>A (p.Glu1902Lys)
|
rs187073962
|
|
NM_000257.4(MYH7):c.5725C>G (p.Arg1909Gly)
|
rs146796870
|
|
NM_000257.4(MYH7):c.5734A>T (p.Ile1912Phe)
|
rs1396486231
|
|
NM_000257.4(MYH7):c.5761C>T (p.Arg1921Trp)
|
rs539290591
|
|
NM_000257.4(MYH7):c.5773C>T (p.Arg1925Cys)
|
rs755706526
|
|
NM_000257.4(MYH7):c.5790+5G>T
|
|
|
NM_000257.4(MYH7):c.5791-2A>T
|
|
|
NM_000257.4(MYH7):c.5792delG
|
|
|
NM_000257.4(MYH7):c.59A>G (p.Glu20Gly)
|
|
|
NM_000257.4(MYH7):c.623A>T (p.Asp208Val)
|
|
|
NM_000257.4(MYH7):c.625C>A (p.Gln209Lys)
|
rs878853840
|
|
NM_000257.4(MYH7):c.686C>T (p.Ala229Val)
|
rs876657888
|
|
NM_000257.4(MYH7):c.689T>C (p.Phe230Ser)
|
rs886038844
|
|
NM_000257.4(MYH7):c.698C>T (p.Ala233Val)
|
rs727504362
|
|
NM_000257.4(MYH7):c.703A>G (p.Thr235Ala)
|
rs876657889
|
|
NM_000257.4(MYH7):c.710G>A (p.Arg237Gln)
|
rs397516263
|
|
NM_000257.4(MYH7):c.754T>C (p.Phe252Leu)
|
|
|
NM_000257.4(MYH7):c.758G>T (p.Gly253Val)
|
rs730880853
|
|
NM_000257.4(MYH7):c.790G>A (p.Glu264Lys)
|
|
|
NM_000257.4(MYH7):c.806A>G (p.Glu269Gly)
|
|
|
NM_000257.4(MYH7):c.80A>G (p.Gln27Arg)
|
rs878853843
|
|
NM_000257.4(MYH7):c.842G>A (p.Arg281Lys)
|
rs730880856
|
|
NM_000257.4(MYH7):c.872C>T (p.Ser291Phe)
|
rs397516272
|
|
NM_000257.4(MYH7):c.883C>A (p.Pro295Thr)
|
rs1060501453
|
|
NM_000257.4(MYH7):c.895+5G>C
|
rs779651013
|
|
NM_000257.4(MYH7):c.899T>G (p.Met300Arg)
|
rs1892892787
|
|
NM_000257.4(MYH7):c.936C>T (p.Phe312=)
|
rs771522982
|
|
NM_000257.4(MYH7):c.937A>C (p.Ile313Leu)
|
rs1323103660
|
|
NM_000257.4(MYH7):c.960_962dup (p.Ala321_Ser322insAla)
|
|
|
NM_000257.4(MYH7):c.976G>A (p.Ala326Thr)
|
rs372731424
|
|
NM_000257.4(MYH7):c.977C>G (p.Ala326Gly)
|
|
|
NM_000257.4(MYH7):c.999+3G>A
|
rs1892886613
|
|
NM_000258.3(MYL3):c.100G>A (p.Glu34Lys)
|
|
|
NM_000258.3(MYL3):c.170C>A (p.Ala57Asp)
|
rs139794067
|
|
NM_000258.3(MYL3):c.170C>G (p.Ala57Gly)
|
rs139794067
|
|
NM_000258.3(MYL3):c.170C>T (p.Ala57Val)
|
rs139794067
|
|
NM_000258.3(MYL3):c.188G>C (p.Arg63Pro)
|
rs139354105
|
|
NM_000258.3(MYL3):c.206T>A (p.Met69Lys)
|
rs1575498236
|
|
NM_000258.3(MYL3):c.211A>T (p.Ile71Phe)
|
|
|
NM_000258.3(MYL3):c.244G>T (p.Ala82Ser)
|
|
|
NM_000258.3(MYL3):c.25A>G (p.Lys9Glu)
|
|
|
NM_000258.3(MYL3):c.263C>T (p.Thr88Ile)
|
|
|
NM_000258.3(MYL3):c.265C>T (p.Gln89Ter)
|
rs1701982801
|
|
NM_000258.3(MYL3):c.278T>C (p.Leu93Pro)
|
|
|
NM_000258.3(MYL3):c.2T>A (p.Met1Lys)
|
|
|
NM_000258.3(MYL3):c.308-3C>T
|
rs112911997
|
|
NM_000258.3(MYL3):c.370A>T (p.Asn124Tyr)
|
rs1278498849
|
|
NM_000258.3(MYL3):c.400G>A (p.Val134Met)
|
rs776163180
|
|
NM_000258.3(MYL3):c.413G>A (p.Arg138Gln)
|
rs1057524652
|
|
NM_000258.3(MYL3):c.418T>C (p.Phe140Leu)
|
|
|
NM_000258.3(MYL3):c.419T>C (p.Phe140Ser)
|
|
|
NM_000258.3(MYL3):c.421G>A (p.Asp141Asn)
|
rs1483805765
|
|
NM_000258.3(MYL3):c.432C>T (p.Gly144=)
|
|
|
NM_000258.3(MYL3):c.446T>C (p.Met149Thr)
|
rs202141423
|
|
NM_000258.3(MYL3):c.447G>A (p.Met149Ile)
|
rs730880162
|
|
NM_000258.3(MYL3):c.449G>A (p.Gly150Asp)
|
rs1085307526
|
|
NM_000258.3(MYL3):c.456G>T (p.Glu152Asp)
|
rs777855362
|
|
NM_000258.3(MYL3):c.475A>T (p.Thr159Ser)
|
|
|
NM_000258.3(MYL3):c.487A>G (p.Arg163Gly)
|
rs2106905119
|
|
NM_000258.3(MYL3):c.499G>A (p.Asp167Asn)
|
rs1701956074
|
|
NM_000258.3(MYL3):c.49C>T (p.Pro17Ser)
|
rs1702011848
|
|
NM_000258.3(MYL3):c.508G>C (p.Glu170Gln)
|
rs864622538
|
|
NM_000258.3(MYL3):c.518T>C (p.Met173Thr)
|
rs730880962
|
|
NM_000258.3(MYL3):c.55G>T (p.Ala19Ser)
|
|
|
NM_000258.3(MYL3):c.8C>A (p.Pro3His)
|
rs536404643
|
|
NM_000335.5(SCN5A):c.1003T>A (p.Cys335Ser)
|
|
|
NM_000335.5(SCN5A):c.1037A>G (p.Glu346Gly)
|
rs780735882
|
|
NM_000335.5(SCN5A):c.106T>C (p.Ser36Pro)
|
rs1175871624
|
|
NM_000335.5(SCN5A):c.1109C>T (p.Thr370Met)
|
rs199473099
|
|
NM_000335.5(SCN5A):c.113C>T (p.Thr38Ile)
|
rs2062566716
|
|
NM_000335.5(SCN5A):c.1141-4_1141-3delinsTA
|
rs1559774986
|
|
NM_000335.5(SCN5A):c.1237G>T (p.Ala413Ser)
|
rs199473110
|
|
NM_000335.5(SCN5A):c.123G>C (p.Glu41Asp)
|
rs1553607598
|
|
NM_000335.5(SCN5A):c.125G>A (p.Ser42Asn)
|
rs2062566338
|
|
NM_000335.5(SCN5A):c.1262A>C (p.Gln421Pro)
|
rs1553704745
|
|
NM_000335.5(SCN5A):c.1272C>G (p.Ile424Met)
|
rs267599794
|
|
NM_000335.5(SCN5A):c.1287G>T (p.Glu429Asp)
|
rs367807565
|
|
NM_000335.5(SCN5A):c.1338+3G>A
|
rs1553704675
|
|
NM_000335.5(SCN5A):c.1340C>T (p.Ala447Val)
|
|
|
NM_000335.5(SCN5A):c.1478G>C (p.Arg493Thr)
|
|
|
NM_000335.5(SCN5A):c.1538G>C (p.Arg513Pro)
|
rs397517951
|
|
NM_000335.5(SCN5A):c.1550G>A (p.Arg517Lys)
|
rs2061967009
|
|
NM_000335.5(SCN5A):c.1568G>T (p.Arg523Leu)
|
|
|
NM_000335.5(SCN5A):c.1671C>G (p.His557Gln)
|
rs762858787
|
|
NM_000335.5(SCN5A):c.1705C>G (p.Arg569Gly)
|
rs199473576
|
|
NM_000335.5(SCN5A):c.1729A>C (p.Ser577Arg)
|
rs2061960299
|
|
NM_000335.5(SCN5A):c.1756_1761del (p.Ala586_Leu587del)
|
rs397517953
|
|
NM_000335.5(SCN5A):c.17T>C (p.Leu6Ser)
|
|
|
NM_000335.5(SCN5A):c.1813G>A (p.Gly605Arg)
|
rs1553704001
|
|
NM_000335.5(SCN5A):c.1859G>T (p.Arg620Leu)
|
rs746504626
|
|
NM_000335.5(SCN5A):c.1889C>A (p.Thr630Lys)
|
|
|
NM_000335.5(SCN5A):c.1993G>A (p.Ala665Thr)
|
rs756474485
|
|
NM_000335.5(SCN5A):c.2207T>C (p.Leu736Pro)
|
rs1553702937
|
|
NM_000335.5(SCN5A):c.2209G>A (p.Glu737Lys)
|
rs794728862
|
|
NM_000335.5(SCN5A):c.2240A>C (p.Glu747Ala)
|
rs747324991
|
|
NM_000335.5(SCN5A):c.2275A>G (p.Ile759Val)
|
rs199473155
|
|
NM_000335.5(SCN5A):c.2275A>T (p.Ile759Phe)
|
rs199473155
|
|
NM_000335.5(SCN5A):c.2294C>T (p.Thr765Ile)
|
rs2061688177
|
|
NM_000335.5(SCN5A):c.2320T>G (p.Tyr774Asp)
|
rs1303852068
|
|
NM_000335.5(SCN5A):c.2321A>G (p.Tyr774Cys)
|
|
|
NM_000335.5(SCN5A):c.2343G>C (p.Trp781Cys)
|
|
|
NM_000335.5(SCN5A):c.2345A>G (p.Asn782Ser)
|
|
|
NM_000335.5(SCN5A):c.235C>G (p.Pro79Ala)
|
rs200923894
|
|
NM_000335.5(SCN5A):c.2377C>T (p.Leu793Phe)
|
|
|
NM_000335.5(SCN5A):c.2390G>T (p.Gly797Val)
|
rs987266626
|
|
NM_000335.5(SCN5A):c.2415G>A (p.Ser805=)
|
rs754312452
|
|
NM_000335.5(SCN5A):c.2417T>G (p.Val806Gly)
|
|
|
NM_000335.5(SCN5A):c.246C>G (p.Asp82Glu)
|
rs747643709
|
|
NM_000335.5(SCN5A):c.2500A>G (p.Asn834Asp)
|
rs2061660815
|
|
NM_000335.5(SCN5A):c.2513C>A (p.Ala838Glu)
|
|
|
NM_000335.5(SCN5A):c.251A>T (p.Asp84Val)
|
rs1462326368
|
|
NM_000335.5(SCN5A):c.260A>G (p.Tyr87Cys)
|
rs1575853007
|
|
NM_000335.5(SCN5A):c.2630C>G (p.Pro877Arg)
|
rs1060501147
|
|
NM_000335.5(SCN5A):c.2648A>G (p.Asp883Gly)
|
rs1575769807
|
|
NM_000335.5(SCN5A):c.2656C>A (p.His886Asn)
|
|
|
NM_000335.5(SCN5A):c.2662T>C (p.Phe888Leu)
|
rs866956533
|
|
NM_000335.5(SCN5A):c.2674T>C (p.Phe892Leu)
|
rs199473170
|
|
NM_000335.5(SCN5A):c.2681T>A (p.Ile894Asn)
|
|
|
NM_000335.5(SCN5A):c.2690G>A (p.Gly897Glu)
|
rs2061656145
|
|
NM_000335.5(SCN5A):c.2735A>G (p.Gln912Arg)
|
rs876661392
|
|
NM_000335.5(SCN5A):c.274-5C>G
|
rs773669619
|
|
NM_000335.5(SCN5A):c.2822C>G (p.Ser941Cys)
|
rs1296243690
|
|
NM_000335.5(SCN5A):c.2866A>G (p.Met956Val)
|
|
|
NM_000335.5(SCN5A):c.2881C>G (p.Leu961Val)
|
|
|
NM_000335.5(SCN5A):c.2987C>A (p.Ala996Asp)
|
rs1263123803
|
|
NM_000335.5(SCN5A):c.2996G>A (p.Gly999Asp)
|
|
|
NM_000335.5(SCN5A):c.2999_3001del (p.Gln1000del)
|
rs748297358
|
|
NM_000335.5(SCN5A):c.301A>G (p.Thr101Ala)
|
|
|
NM_000335.5(SCN5A):c.3022C>G (p.Pro1008Ala)
|
|
|
NM_000335.5(SCN5A):c.3068G>C (p.Arg1023Pro)
|
rs199473592
|
|
NM_000335.5(SCN5A):c.3085G>A (p.Glu1029Lys)
|
rs1064797003
|
|
NM_000335.5(SCN5A):c.3104G>A (p.Gly1035Asp)
|
|
|
NM_000335.5(SCN5A):c.3109G>A (p.Gly1037Ser)
|
|
|
NM_000335.5(SCN5A):c.3187GAG[1] (p.Glu1064del)
|
rs779953279
|
|
NM_000335.5(SCN5A):c.3208GAG[2] (p.Glu1072del)
|
rs758282196
|
|
NM_000335.5(SCN5A):c.3211G>A (p.Glu1071Lys)
|
|
|
NM_000335.5(SCN5A):c.3214_3215inv (p.Glu1072Ser)
|
|
|
NM_000335.5(SCN5A):c.3225G>T (p.Lys1075Asn)
|
rs1553699582
|
|
NM_000335.5(SCN5A):c.3235C>G (p.Gln1079Glu)
|
|
|
NM_000335.5(SCN5A):c.3254C>T (p.Pro1085Leu)
|
rs2061541054
|
|
NM_000335.5(SCN5A):c.3265C>A (p.Pro1089Thr)
|
rs1553699286
|
|
NM_000335.5(SCN5A):c.3282G>C (p.Trp1094Cys)
|
rs759924541
|
|
NM_000335.5(SCN5A):c.3289G>A (p.Val1097Met)
|
rs199473191
|
|
NM_000335.5(SCN5A):c.3339C>A (p.Asp1113Glu)
|
|
|
NM_000335.5(SCN5A):c.3387+5T>C
|
rs2125867460
|
|
NM_000335.5(SCN5A):c.3389C>G (p.Thr1130Ser)
|
rs199473197
|
|
NM_000335.5(SCN5A):c.3413GCA[3] (p.Ser1139_Thr1140insSer)
|
|
|
NM_000335.5(SCN5A):c.3418A>T (p.Thr1140Ser)
|
|
|
NM_000335.5(SCN5A):c.344G>A (p.Ser115Asn)
|
rs1203397027
|
|
NM_000335.5(SCN5A):c.3464A>C (p.Asp1155Ala)
|
|
|
NM_000335.5(SCN5A):c.3490G>C (p.Glu1164Gln)
|
|
|
NM_000335.5(SCN5A):c.34A>G (p.Ser12Gly)
|
|
|
NM_000335.5(SCN5A):c.3535G>T (p.Ala1179Ser)
|
|
|
NM_000335.5(SCN5A):c.3565G>T (p.Val1189Phe)
|
|
|
NM_000335.5(SCN5A):c.3691C>T (p.Arg1231Trp)
|
rs199473207
|
|
NM_000335.5(SCN5A):c.3725A>G (p.Asp1242Gly)
|
rs2061340518
|
|
NM_000335.5(SCN5A):c.3803A>G (p.Asn1268Ser)
|
rs761274563
|
|
NM_000335.5(SCN5A):c.3880G>A (p.Glu1294Lys)
|
rs199473218
|
|
NM_000335.5(SCN5A):c.3884T>C (p.Met1295Thr)
|
|
|
NM_000335.5(SCN5A):c.3914G>T (p.Arg1305Leu)
|
rs730880207
|
|
NM_000335.5(SCN5A):c.3923G>A (p.Arg1308His)
|
rs537423012
|
|
NM_000335.5(SCN5A):c.393-5C>T
|
rs368678204
|
|
NM_000335.5(SCN5A):c.3960+4A>G
|
|
|
NM_000335.5(SCN5A):c.4015G>C (p.Val1339Leu)
|
rs199473605
|
|
NM_000335.5(SCN5A):c.4037T>C (p.Ile1346Thr)
|
|
|
NM_000335.5(SCN5A):c.4050G>T (p.Met1350Ile)
|
|
|
NM_000335.5(SCN5A):c.4105G>A (p.Asp1369Asn)
|
|
|
NM_000335.5(SCN5A):c.4119C>A (p.Asn1373Lys)
|
|
|
NM_000335.5(SCN5A):c.4145A>C (p.Gln1382Pro)
|
|
|
NM_000335.5(SCN5A):c.4178A>G (p.Tyr1393Cys)
|
rs1553695248
|
|
NM_000335.5(SCN5A):c.4196T>G (p.Val1399Gly)
|
rs1553695229
|
|
NM_000335.5(SCN5A):c.4229C>A (p.Ala1410Asp)
|
|
|
NM_000335.5(SCN5A):c.4243-4C>A
|
|
|
NM_000335.5(SCN5A):c.4247C>T (p.Thr1416Ile)
|
rs1575719854
|
|
NM_000335.5(SCN5A):c.4255G>T (p.Gly1419Cys)
|
|
|
NM_000335.5(SCN5A):c.4274A>G (p.Tyr1425Cys)
|
|
|
NM_000335.5(SCN5A):c.4294G>T (p.Gly1432Trp)
|
rs867001670
|
|
NM_000335.5(SCN5A):c.4335G>A (p.Met1445Ile)
|
rs794728936
|
|
NM_000335.5(SCN5A):c.4434+4C>T
|
rs368541703
|
|
NM_000335.5(SCN5A):c.4434+5G>A
|
rs1057520531
|
|
NM_000335.5(SCN5A):c.4442G>A (p.Gly1481Asp)
|
|
|
NM_000335.5(SCN5A):c.44G>T (p.Arg15Met)
|
rs373410109
|
|
NM_000335.5(SCN5A):c.4510A>C (p.Lys1504Gln)
|
rs1278221673
|
|
NM_000335.5(SCN5A):c.4557C>A (p.Phe1519Leu)
|
|
|
NM_000335.5(SCN5A):c.4613G>A (p.Cys1538Tyr)
|
rs770780069
|
|
NM_000335.5(SCN5A):c.4613_4614delinsTT (p.Cys1538Phe)
|
rs2061099011
|
|
NM_000335.5(SCN5A):c.4720T>A (p.Cys1574Ser)
|
rs1343260267
|
|
NM_000335.5(SCN5A):c.4751A>G (p.Tyr1584Cys)
|
rs775026107
|
|
NM_000335.5(SCN5A):c.4760C>T (p.Thr1587Ile)
|
|
|
NM_000335.5(SCN5A):c.4808T>C (p.Val1603Ala)
|
|
|
NM_000335.5(SCN5A):c.4811-3C>T
|
|
|
NM_000335.5(SCN5A):c.4820T>G (p.Leu1607Arg)
|
|
|
NM_000335.5(SCN5A):c.4829T>C (p.Ile1610Thr)
|
|
|
NM_000335.5(SCN5A):c.4832T>A (p.Ile1611Asn)
|
rs1553693063
|
|
NM_000335.5(SCN5A):c.4874G>T (p.Arg1625Leu)
|
|
|
NM_000335.5(SCN5A):c.4886T>C (p.Ile1629Thr)
|
|
|
NM_000335.5(SCN5A):c.4922G>A (p.Gly1641Glu)
|
rs199473624
|
|
NM_000335.5(SCN5A):c.4927C>T (p.Arg1643Cys)
|
rs199473287
|
|
NM_000335.5(SCN5A):c.4976T>C (p.Ile1659Thr)
|
|
|
NM_000335.5(SCN5A):c.5032T>A (p.Phe1678Ile)
|
|
|
NM_000335.5(SCN5A):c.5057G>A (p.Gly1686Asp)
|
|
|
NM_000335.5(SCN5A):c.5062GAC[1] (p.Asp1689del)
|
rs773422233
|
|
NM_000335.5(SCN5A):c.5108T>A (p.Leu1703His)
|
rs1559721808
|
|
NM_000335.5(SCN5A):c.5123C>T (p.Thr1708Met)
|
rs199473297
|
|
NM_000335.5(SCN5A):c.5137G>A (p.Asp1713Asn)
|
rs794728893
|
|
NM_000335.5(SCN5A):c.5173C>A (p.Pro1725Thr)
|
|
|
NM_000335.5(SCN5A):c.5188A>C (p.Thr1730Pro)
|
|
|
NM_000335.5(SCN5A):c.5269A>G (p.Ile1757Val)
|
rs1325549884
|
|
NM_000335.5(SCN5A):c.5293A>G (p.Met1765Val)
|
rs199473310
|
|
NM_000335.5(SCN5A):c.5295G>A (p.Met1765Ile)
|
rs1553692822
|
|
NM_000335.5(SCN5A):c.5323A>G (p.Ser1775Gly)
|
|
|
NM_000335.5(SCN5A):c.536G>C (p.Arg179Pro)
|
rs760585484
|
|
NM_000335.5(SCN5A):c.5424T>G (p.Ile1808Met)
|
|
|
NM_000335.5(SCN5A):c.5468C>T (p.Pro1823Leu)
|
rs2061021652
|
|
NM_000335.5(SCN5A):c.5516T>G (p.Leu1839Arg)
|
rs2125825416
|
|
NM_000335.5(SCN5A):c.5521A>G (p.Met1841Val)
|
rs368967393
|
|
NM_000335.5(SCN5A):c.552C>G (p.His184Gln)
|
rs770959082
|
|
NM_000335.5(SCN5A):c.5531G>A (p.Gly1844Glu)
|
|
|
NM_000335.5(SCN5A):c.5543A>G (p.His1848Arg)
|
rs794728898
|
|
NM_000335.5(SCN5A):c.5546G>C (p.Cys1849Ser)
|
rs199473322
|
|
NM_000335.5(SCN5A):c.5554A>C (p.Ile1852Leu)
|
rs1348016844
|
|
NM_000335.5(SCN5A):c.5576G>A (p.Arg1859Lys)
|
rs1559720220
|
|
NM_000335.5(SCN5A):c.5589G>T (p.Glu1863Asp)
|
rs794728899
|
|
NM_000335.5(SCN5A):c.5620_5622dup (p.Met1874dup)
|
rs1474459822
|
|
NM_000335.5(SCN5A):c.5654A>C (p.Lys1885Thr)
|
rs2125825142
|
|
NM_000335.5(SCN5A):c.5660_5662del (p.Ser1887del)
|
|
|
NM_000335.5(SCN5A):c.5683C>G (p.Leu1895Val)
|
|
|
NM_000335.5(SCN5A):c.568C>T (p.Arg190Trp)
|
rs199473068
|
|
NM_000335.5(SCN5A):c.5723A>G (p.Gln1908Arg)
|
rs199473326
|
|
NM_000335.5(SCN5A):c.5726G>A (p.Arg1909Lys)
|
rs1060501144
|
|
NM_000335.5(SCN5A):c.5742C>A (p.His1914Gln)
|
rs1314879329
|
|
NM_000335.5(SCN5A):c.574C>A (p.Pro192Thr)
|
|
|
NM_000335.5(SCN5A):c.5759T>C (p.Leu1920Ser)
|
|
|
NM_000335.5(SCN5A):c.5795G>T (p.Gly1932Val)
|
rs758704113
|
|
NM_000335.5(SCN5A):c.580A>G (p.Asn194Asp)
|
rs1553605677
|
|
NM_000335.5(SCN5A):c.582C>A (p.Asn194Lys)
|
rs2062303055
|
|
NM_000335.5(SCN5A):c.5840T>C (p.Ile1947Thr)
|
|
|
NM_000335.5(SCN5A):c.5885C>T (p.Pro1962Leu)
|
rs756617804
|
|
NM_000335.5(SCN5A):c.5900T>C (p.Ile1967Thr)
|
|
|
NM_000335.5(SCN5A):c.5915T>C (p.Phe1972Ser)
|
rs1060501131
|
|
NM_000335.5(SCN5A):c.6007T>A (p.Phe2003Ile)
|
rs41311117
|
|
NM_000335.5(SCN5A):c.6008T>G (p.Phe2003Cys)
|
|
|
NM_000335.5(SCN5A):c.6014C>G (p.Pro2005Arg)
|
rs199473338
|
|
NM_000335.5(SCN5A):c.611+4A>C
|
|
|
NM_000335.5(SCN5A):c.634C>G (p.Leu212Val)
|
|
|
NM_000335.5(SCN5A):c.702A>C (p.Ser234=)
|
rs794728850
|
|
NM_000335.5(SCN5A):c.815T>C (p.Phe272Ser)
|
|
|
NM_000335.5(SCN5A):c.818T>A (p.Met273Lys)
|
rs200076065
|
|
NM_000335.5(SCN5A):c.914A>G (p.Asp305Gly)
|
|
|
NM_000335.5(SCN5A):c.925A>T (p.Ser309Cys)
|
|
|
NM_000335.5(SCN5A):c.943C>G (p.Leu315Val)
|
|
|
NM_000335.5(SCN5A):c.955G>T (p.Gly319Cys)
|
rs199473090
|
|
NM_000335.5(SCN5A):c.959C>T (p.Thr320Ile)
|
|
|
NM_000363.5(TNNI3):c.108+5G>A
|
rs1261858318
|
|
NM_000363.5(TNNI3):c.11+4A>G
|
|
|
NM_000363.5(TNNI3):c.114A>T (p.Lys38Asn)
|
rs730881066
|
|
NM_000363.5(TNNI3):c.115T>C (p.Ser39Pro)
|
|
|
NM_000363.5(TNNI3):c.119A>T (p.Lys40Met)
|
|
|
NM_000363.5(TNNI3):c.130T>A (p.Ser44Thr)
|
|
|
NM_000363.5(TNNI3):c.131C>G (p.Ser44Trp)
|
rs730881085
|
|
NM_000363.5(TNNI3):c.146T>A (p.Leu49Gln)
|
|
|
NM_000363.5(TNNI3):c.151A>G (p.Thr51Ala)
|
|
|
NM_000363.5(TNNI3):c.173A>G (p.Lys58Arg)
|
rs878853955
|
|
NM_000363.5(TNNI3):c.190G>C (p.Glu64Gln)
|
|
|
NM_000363.5(TNNI3):c.194C>T (p.Ala65Val)
|
rs1057518784
|
|
NM_000363.5(TNNI3):c.204del (p.Arg69fs)
|
rs727504872
|
|
NM_000363.5(TNNI3):c.220C>A (p.Arg74Ser)
|
rs375795196
|
|
NM_000363.5(TNNI3):c.220C>G (p.Arg74Gly)
|
|
|
NM_000363.5(TNNI3):c.220C>T (p.Arg74Cys)
|
rs375795196
|
|
NM_000363.5(TNNI3):c.221G>C (p.Arg74Pro)
|
rs886039022
|
|
NM_000363.5(TNNI3):c.227T>C (p.Leu76Pro)
|
rs1443859469
|
|
NM_000363.5(TNNI3):c.232A>T (p.Thr78Ser)
|
rs786204399
|
|
NM_000363.5(TNNI3):c.258del (p.Leu88fs)
|
rs727503507
|
|
NM_000363.5(TNNI3):c.269T>G (p.Phe90Cys)
|
|
|
NM_000363.5(TNNI3):c.318G>C (p.Lys106Asn)
|
rs750350912
|
|
NM_000363.5(TNNI3):c.335dup (p.Tyr112Ter)
|
|
|
NM_000363.5(TNNI3):c.356C>T (p.Thr119Ile)
|
rs184709702
|
|
NM_000363.5(TNNI3):c.372+2T>A
|
|
|
NM_000363.5(TNNI3):c.372+4G>C
|
|
|
NM_000363.5(TNNI3):c.380A>G (p.Asp127Gly)
|
|
|
NM_000363.5(TNNI3):c.382C>G (p.Leu128Val)
|
|
|
NM_000363.5(TNNI3):c.393G>A (p.Lys131=)
|
|
|
NM_000363.5(TNNI3):c.403C>T (p.Leu135Phe)
|
rs1555863549
|
|
NM_000363.5(TNNI3):c.406C>G (p.Arg136Gly)
|
|
|
NM_000363.5(TNNI3):c.406C>T (p.Arg136Ter)
|
rs1393946566
|
|
NM_000363.5(TNNI3):c.410G>A (p.Gly137Asp)
|
|
|
NM_000363.5(TNNI3):c.421C>G (p.Arg141Gly)
|
rs730881071
|
|
NM_000363.5(TNNI3):c.451G>A (p.Ala151Thr)
|
rs730881072
|
|
NM_000363.5(TNNI3):c.497C>G (p.Ser166Cys)
|
rs727504242
|
|
NM_000363.5(TNNI3):c.502G>A (p.Asp168Asn)
|
rs1085308019
|
|
NM_000363.5(TNNI3):c.534G>T (p.Lys178Asn)
|
|
|
NM_000363.5(TNNI3):c.538G>A (p.Asp180Asn)
|
rs1060503103
|
|
NM_000363.5(TNNI3):c.539A>G (p.Asp180Gly)
|
rs1060499912
|
|
NM_000363.5(TNNI3):c.547_548delinsGT (p.Lys183Val)
|
|
|
NM_000363.5(TNNI3):c.549+4_549+7del
|
|
|
NM_000363.5(TNNI3):c.55A>C (p.Ile19Leu)
|
rs755862334
|
|
NM_000363.5(TNNI3):c.566G>C (p.Gly189Ala)
|
|
|
NM_000363.5(TNNI3):c.577A>G (p.Lys193Glu)
|
rs730881080
|
|
NM_000363.5(TNNI3):c.581A>C (p.Asn194Thr)
|
rs730881081
|
|
NM_000363.5(TNNI3):c.605A>G (p.Glu202Gly)
|
|
|
NM_000363.5(TNNI3):c.614A>C (p.Lys205Thr)
|
rs1555862962
|
|
NM_000363.5(TNNI3):c.626A>C (p.Glu209Ala)
|
rs730881083
|
|
NM_000363.5(TNNI3):c.629G>A (p.Ser210Asn)
|
|
|
NM_000363.5(TNNI3):c.79C>G (p.Arg27Gly)
|
rs1555864366
|
|
NM_000363.5(TNNI3):c.79C>T (p.Arg27Cys)
|
rs1555864366
|
|
NM_000363.5(TNNI3):c.80G>C (p.Arg27Pro)
|
rs2147285955
|
|
NM_000363.5(TNNI3):c.88G>A (p.Ala30Thr)
|
rs796104366
|
|
NM_000363.5(TNNI3):c.95A>G (p.Glu32Gly)
|
|
|
NM_000363.5(TNNI3):c.9T>A (p.Asp3Glu)
|
|
|
NM_000371.4(TTR):c.11A>T (p.His4Leu)
|
rs1157253322
|
|
NM_000371.4(TTR):c.11_13dup (p.His4dup)
|
rs747545126
|
|
NM_000371.4(TTR):c.122G>A (p.Arg41Gln)
|
rs879254269
|
|
NM_000371.4(TTR):c.162A>C (p.Arg54Ser)
|
|
|
NM_000371.4(TTR):c.163A>G (p.Lys55Glu)
|
|
|
NM_000371.4(TTR):c.179C>T (p.Thr60Ile)
|
|
|
NM_000371.4(TTR):c.186G>T (p.Glu62Asp)
|
rs1340627860
|
|
NM_000371.4(TTR):c.201-5T>C
|
|
|
NM_000371.4(TTR):c.211G>A (p.Glu71Lys)
|
rs933476040
|
|
NM_000371.4(TTR):c.212A>C (p.Glu71Ala)
|
|
|
NM_000371.4(TTR):c.212A>G (p.Glu71Gly)
|
|
|
NM_000371.4(TTR):c.263T>G (p.Ile88Arg)
|
|
|
NM_000371.4(TTR):c.308G>A (p.Gly103Asp)
|
|
|
NM_000371.4(TTR):c.327G>T (p.Glu109Asp)
|
rs876661395
|
|
NM_000371.4(TTR):c.328C>G (p.His110Asp)
|
rs121918074
|
|
NM_000371.4(TTR):c.337-14_337-11del
|
rs112263266
|
|
NM_000371.4(TTR):c.34G>T (p.Ala12Ser)
|
rs1567945391
|
|
NM_000371.4(TTR):c.361G>C (p.Gly121Arg)
|
|
|
NM_000371.4(TTR):c.367C>G (p.Arg123Gly)
|
|
|
NM_000371.4(TTR):c.383C>T (p.Ala128Val)
|
|
|
NM_000371.4(TTR):c.50T>C (p.Val17Ala)
|
rs1237121765
|
|
NM_000371.4(TTR):c.70-1G>A
|
|
|
NM_000371.4(TTR):c.71G>A (p.Gly24Asp)
|
|
|
NM_000371.4(TTR):c.88T>G (p.Cys30Gly)
|
|
|
NM_000384.3(APOB):c.10003G>C (p.Gly3335Arg)
|
|
|
NM_000384.3(APOB):c.10030A>G (p.Lys3344Glu)
|
|
|
NM_000384.3(APOB):c.10058A>C (p.Asn3353Thr)
|
|
|
NM_000384.3(APOB):c.10086T>G (p.Ile3362Met)
|
|
|
NM_000384.3(APOB):c.10120A>T (p.Ile3374Phe)
|
|
|
NM_000384.3(APOB):c.10134G>C (p.Gln3378His)
|
|
|
NM_000384.3(APOB):c.10205G>C (p.Ser3402Thr)
|
|
|
NM_000384.3(APOB):c.10292C>A (p.Ala3431Asp)
|
rs2103352011
|
|
NM_000384.3(APOB):c.10306T>G (p.Leu3436Val)
|
|
|
NM_000384.3(APOB):c.10324C>A (p.Gln3442Lys)
|
rs1663143963
|
|
NM_000384.3(APOB):c.10354C>G (p.Pro3452Ala)
|
|
|
NM_000384.3(APOB):c.10357A>G (p.Thr3453Ala)
|
|
|
NM_000384.3(APOB):c.10358C>T (p.Thr3453Ile)
|
|
|
NM_000384.3(APOB):c.1040T>C (p.Leu347Pro)
|
|
|
NM_000384.3(APOB):c.10427C>A (p.Ala3476Glu)
|
|
|
NM_000384.3(APOB):c.10439A>G (p.Lys3480Arg)
|
|
|
NM_000384.3(APOB):c.10446C>A (p.Ser3482Arg)
|
|
|
NM_000384.3(APOB):c.10460C>A (p.Thr3487Asn)
|
|
|
NM_000384.3(APOB):c.10474A>G (p.Ile3492Val)
|
|
|
NM_000384.3(APOB):c.10481C>T (p.Ser3494Leu)
|
|
|
NM_000384.3(APOB):c.10483T>C (p.Ser3495Pro)
|
|
|
NM_000384.3(APOB):c.10545T>A (p.Ser3515Arg)
|
|
|
NM_000384.3(APOB):c.10555A>G (p.Thr3519Ala)
|
|
|
NM_000384.3(APOB):c.10571A>C (p.Lys3524Thr)
|
rs750035232
|
|
NM_000384.3(APOB):c.10583C>T (p.Ser3528Phe)
|
|
|
NM_000384.3(APOB):c.10619A>C (p.Asp3540Ala)
|
|
|
NM_000384.3(APOB):c.10672C>T (p.Arg3558Cys)
|
|
|
NM_000384.3(APOB):c.10673G>A (p.Arg3558His)
|
|
|
NM_000384.3(APOB):c.10676T>C (p.Ile3559Thr)
|
|
|
NM_000384.3(APOB):c.10724G>A (p.Gly3575Asp)
|
rs1418775778
|
|
NM_000384.3(APOB):c.10741G>A (p.Gly3581Arg)
|
|
|
NM_000384.3(APOB):c.10778C>T (p.Pro3593Leu)
|
rs1553382921
|
|
NM_000384.3(APOB):c.10787T>C (p.Met3596Thr)
|
|
|
NM_000384.3(APOB):c.10798G>A (p.Val3600Ile)
|
|
|
NM_000384.3(APOB):c.10804G>A (p.Val3602Ile)
|
|
|
NM_000384.3(APOB):c.10818G>T (p.Gln3606His)
|
|
|
NM_000384.3(APOB):c.10850G>A (p.Gly3617Asp)
|
|
|
NM_000384.3(APOB):c.10890G>C (p.Lys3630Asn)
|
|
|
NM_000384.3(APOB):c.10893C>G (p.Ile3631Met)
|
|
|
NM_000384.3(APOB):c.10912C>T (p.Arg3638Trp)
|
|
|
NM_000384.3(APOB):c.10925G>T (p.Gly3642Val)
|
|
|
NM_000384.3(APOB):c.10943T>C (p.Val3648Ala)
|
|
|
NM_000384.3(APOB):c.10943T>G (p.Val3648Gly)
|
|
|
NM_000384.3(APOB):c.11053T>C (p.Trp3685Arg)
|
|
|
NM_000384.3(APOB):c.11081C>G (p.Thr3694Ser)
|
|
|
NM_000384.3(APOB):c.1111A>C (p.Ile371Leu)
|
|
|
NM_000384.3(APOB):c.11132C>T (p.Thr3711Ile)
|
|
|
NM_000384.3(APOB):c.11141C>G (p.Pro3714Arg)
|
|
|
NM_000384.3(APOB):c.11141C>T (p.Pro3714Leu)
|
|
|
NM_000384.3(APOB):c.11179G>A (p.Ala3727Thr)
|
|
|
NM_000384.3(APOB):c.1117G>T (p.Val373Leu)
|
|
|
NM_000384.3(APOB):c.11182G>A (p.Asp3728Asn)
|
|
|
NM_000384.3(APOB):c.11184T>A (p.Asp3728Glu)
|
|
|
NM_000384.3(APOB):c.11189T>A (p.Phe3730Tyr)
|
|
|
NM_000384.3(APOB):c.11209C>G (p.Leu3737Val)
|
|
|
NM_000384.3(APOB):c.11215G>T (p.Asp3739Tyr)
|
|
|
NM_000384.3(APOB):c.11230C>T (p.Leu3744Phe)
|
|
|
NM_000384.3(APOB):c.11245T>C (p.Phe3749Leu)
|
|
|
NM_000384.3(APOB):c.11290G>A (p.Asp3764Asn)
|
|
|
NM_000384.3(APOB):c.11309T>A (p.Ile3770Asn)
|
|
|
NM_000384.3(APOB):c.11351C>A (p.Pro3784Gln)
|
|
|
NM_000384.3(APOB):c.11413G>A (p.Asp3805Asn)
|
|
|
NM_000384.3(APOB):c.11443G>T (p.Val3815Leu)
|
|
|
NM_000384.3(APOB):c.11453C>A (p.Ser3818Tyr)
|
|
|
NM_000384.3(APOB):c.11461A>G (p.Thr3821Ala)
|
rs777808452
|
|
NM_000384.3(APOB):c.11507C>T (p.Ala3836Val)
|
|
|
NM_000384.3(APOB):c.1151A>G (p.Gln384Arg)
|
|
|
NM_000384.3(APOB):c.11533A>G (p.Asn3845Asp)
|
|
|
NM_000384.3(APOB):c.11542G>T (p.Ala3848Ser)
|
|
|
NM_000384.3(APOB):c.11561C>T (p.Thr3854Ile)
|
rs1663097155
|
|
NM_000384.3(APOB):c.11566A>T (p.Ile3856Phe)
|
|
|
NM_000384.3(APOB):c.11588A>G (p.Glu3863Gly)
|
|
|
NM_000384.3(APOB):c.11596T>C (p.Ser3866Pro)
|
rs769732943
|
|
NM_000384.3(APOB):c.1159C>G (p.Gln387Glu)
|
|
|
NM_000384.3(APOB):c.11612T>C (p.Val3871Ala)
|
|
|
NM_000384.3(APOB):c.11630T>C (p.Ile3877Thr)
|
|
|
NM_000384.3(APOB):c.11630T>G (p.Ile3877Ser)
|
|
|
NM_000384.3(APOB):c.1163C>T (p.Pro388Leu)
|
|
|
NM_000384.3(APOB):c.11651C>G (p.Thr3884Ser)
|
rs749905188
|
|
NM_000384.3(APOB):c.11653G>T (p.Ala3885Ser)
|
|
|
NM_000384.3(APOB):c.11654C>T (p.Ala3885Val)
|
|
|
NM_000384.3(APOB):c.11696G>T (p.Ser3899Ile)
|
|
|
NM_000384.3(APOB):c.11734G>A (p.Val3912Ile)
|
|
|
NM_000384.3(APOB):c.11749T>A (p.Cys3917Ser)
|
|
|
NM_000384.3(APOB):c.1174A>G (p.Thr392Ala)
|
|
|
NM_000384.3(APOB):c.11792T>C (p.Leu3931Ser)
|
rs1558560211
|
|
NM_000384.3(APOB):c.1183C>T (p.Leu395Phe)
|
|
|
NM_000384.3(APOB):c.11905G>A (p.Glu3969Lys)
|
|
|
NM_000384.3(APOB):c.11953G>A (p.Asp3985Asn)
|
rs772544842
|
|
NM_000384.3(APOB):c.11969A>G (p.Tyr3990Cys)
|
|
|
NM_000384.3(APOB):c.11980A>C (p.Lys3994Gln)
|
|
|
NM_000384.3(APOB):c.12005C>T (p.Ala4002Val)
|
rs369364335
|
|
NM_000384.3(APOB):c.12008C>A (p.Ser4003Tyr)
|
|
|
NM_000384.3(APOB):c.12053A>G (p.Asp4018Gly)
|
rs771555558
|
|
NM_000384.3(APOB):c.12053A>T (p.Asp4018Val)
|
rs771555558
|
|
NM_000384.3(APOB):c.1205A>G (p.His402Arg)
|
rs965602697
|
|
NM_000384.3(APOB):c.12087+2T>C
|
|
|
NM_000384.3(APOB):c.12109A>T (p.Thr4037Ser)
|
|
|
NM_000384.3(APOB):c.12115T>C (p.Phe4039Leu)
|
|
|
NM_000384.3(APOB):c.12121A>G (p.Thr4041Ala)
|
|
|
NM_000384.3(APOB):c.1213C>A (p.Pro405Thr)
|
|
|
NM_000384.3(APOB):c.1217T>A (p.Leu406His)
|
|
|
NM_000384.3(APOB):c.12182A>T (p.Glu4061Val)
|
rs747772556
|
|
NM_000384.3(APOB):c.1219C>A (p.Leu407Met)
|
|
|
NM_000384.3(APOB):c.12224C>T (p.Pro4075Leu)
|
|
|
NM_000384.3(APOB):c.12226A>G (p.Lys4076Glu)
|
|
|
NM_000384.3(APOB):c.12236G>C (p.Gly4079Ala)
|
|
|
NM_000384.3(APOB):c.12245A>G (p.Tyr4082Cys)
|
|
|
NM_000384.3(APOB):c.12257A>G (p.Asn4086Ser)
|
|
|
NM_000384.3(APOB):c.12293G>C (p.Arg4098Thr)
|
|
|
NM_000384.3(APOB):c.12308A>G (p.Lys4103Arg)
|
rs1663037607
|
|
NM_000384.3(APOB):c.12334G>A (p.Ala4112Thr)
|
rs1663036153
|
|
NM_000384.3(APOB):c.12342G>T (p.Trp4114Cys)
|
rs1045593499
|
|
NM_000384.3(APOB):c.12358A>T (p.Ile4120Phe)
|
|
|
NM_000384.3(APOB):c.12368T>C (p.Ile4123Thr)
|
|
|
NM_000384.3(APOB):c.12371A>G (p.Asp4124Gly)
|
|
|
NM_000384.3(APOB):c.12380A>G (p.Asp4127Gly)
|
|
|
NM_000384.3(APOB):c.12529C>T (p.Arg4177Ter)
|
|
|
NM_000384.3(APOB):c.12530G>A (p.Arg4177Gln)
|
|
|
NM_000384.3(APOB):c.12533T>G (p.Val4178Gly)
|
|
|
NM_000384.3(APOB):c.12543A>C (p.Glu4181Asp)
|
|
|
NM_000384.3(APOB):c.12700A>G (p.Lys4234Glu)
|
|
|
NM_000384.3(APOB):c.12722T>C (p.Ile4241Thr)
|
|
|
NM_000384.3(APOB):c.12728T>G (p.Phe4243Cys)
|
|
|
NM_000384.3(APOB):c.1272G>C (p.Gln424His)
|
rs780691494
|
|
NM_000384.3(APOB):c.12761C>T (p.Pro4254Leu)
|
|
|
NM_000384.3(APOB):c.12793G>A (p.Val4265Ile)
|
|
|
NM_000384.3(APOB):c.12860_12863del (p.Ile4287fs)
|
|
|
NM_000384.3(APOB):c.12863A>T (p.Gln4288Leu)
|
|
|
NM_000384.3(APOB):c.12917T>C (p.Ile4306Thr)
|
rs1663012757
|
|
NM_000384.3(APOB):c.12947A>G (p.Gln4316Arg)
|
|
|
NM_000384.3(APOB):c.1296G>A (p.Met432Ile)
|
|
|
NM_000384.3(APOB):c.12991G>A (p.Asp4331Asn)
|
|
|
NM_000384.3(APOB):c.12991G>T (p.Asp4331Tyr)
|
|
|
NM_000384.3(APOB):c.13021A>G (p.Ile4341Val)
|
|
|
NM_000384.3(APOB):c.13028_13029del (p.Tyr4343fs)
|
rs760832994
|
|
NM_000384.3(APOB):c.1303G>A (p.Asp435Asn)
|
|
|
NM_000384.3(APOB):c.1303G>C (p.Asp435His)
|
|
|
NM_000384.3(APOB):c.13063A>G (p.Asn4355Asp)
|
|
|
NM_000384.3(APOB):c.13074G>C (p.Lys4358Asn)
|
|
|
NM_000384.3(APOB):c.13137_13139dup (p.Tyr4380Ter)
|
rs2103346873
|
|
NM_000384.3(APOB):c.13146G>C (p.Met4382Ile)
|
rs762035564
|
|
NM_000384.3(APOB):c.13168G>C (p.Asp4390His)
|
rs771015234
|
|
NM_000384.3(APOB):c.13268C>G (p.Ser4423Cys)
|
|
|
NM_000384.3(APOB):c.13293C>A (p.Asn4431Lys)
|
|
|
NM_000384.3(APOB):c.13293del (p.Phe4432fs)
|
|
|
NM_000384.3(APOB):c.13334A>C (p.His4445Pro)
|
|
|
NM_000384.3(APOB):c.13414A>G (p.Thr4472Ala)
|
|
|
NM_000384.3(APOB):c.13446T>G (p.Ile4482Met)
|
|
|
NM_000384.3(APOB):c.13454A>C (p.Lys4485Thr)
|
|
|
NM_000384.3(APOB):c.13489T>G (p.Tyr4497Asp)
|
rs751629013
|
|
NM_000384.3(APOB):c.13559T>C (p.Leu4520Ser)
|
|
|
NM_000384.3(APOB):c.13564G>A (p.Asp4522Asn)
|
rs767091894
|
|
NM_000384.3(APOB):c.13576C>T (p.Gln4526Ter)
|
|
|
NM_000384.3(APOB):c.13583A>G (p.Tyr4528Cys)
|
|
|
NM_000384.3(APOB):c.13615C>A (p.Leu4539Met)
|
|
|
NM_000384.3(APOB):c.13623G>C (p.Lys4541Asn)
|
|
|
NM_000384.3(APOB):c.13647C>A (p.Asn4549Lys)
|
|
|
NM_000384.3(APOB):c.13663G>T (p.Ala4555Ser)
|
|
|
NM_000384.3(APOB):c.1399G>A (p.Ala467Thr)
|
|
|
NM_000384.3(APOB):c.1471G>A (p.Val491Ile)
|
|
|
NM_000384.3(APOB):c.1471G>T (p.Val491Phe)
|
rs775057058
|
|
NM_000384.3(APOB):c.154T>C (p.Tyr52His)
|
|
|
NM_000384.3(APOB):c.1556C>T (p.Pro519Leu)
|
|
|
NM_000384.3(APOB):c.1568T>C (p.Ile523Thr)
|
rs781234577
|
|
NM_000384.3(APOB):c.1591C>G (p.Leu531Val)
|
|
|
NM_000384.3(APOB):c.1617+5A>G
|
|
|
NM_000384.3(APOB):c.1618-4G>T
|
rs187405118
|
|
NM_000384.3(APOB):c.1640C>A (p.Thr547Asn)
|
|
|
NM_000384.3(APOB):c.1655C>A (p.Ala552Asp)
|
rs765746519
|
|
NM_000384.3(APOB):c.1673G>A (p.Arg558Gln)
|
|
|
NM_000384.3(APOB):c.1744C>T (p.Pro582Ser)
|
|
|
NM_000384.3(APOB):c.1757A>C (p.Asn586Thr)
|
|
|
NM_000384.3(APOB):c.1796A>C (p.Asn599Thr)
|
|
|
NM_000384.3(APOB):c.180T>A (p.Ser60Arg)
|
|
|
NM_000384.3(APOB):c.1811A>G (p.Glu604Gly)
|
|
|
NM_000384.3(APOB):c.1858A>G (p.Lys620Glu)
|
|
|
NM_000384.3(APOB):c.1899C>G (p.Phe633Leu)
|
|
|
NM_000384.3(APOB):c.1975C>T (p.Leu659Phe)
|
rs1026800482
|
|
NM_000384.3(APOB):c.2011A>T (p.Ser671Cys)
|
|
|
NM_000384.3(APOB):c.2063T>C (p.Ile688Thr)
|
|
|
NM_000384.3(APOB):c.2065G>A (p.Glu689Lys)
|
|
|
NM_000384.3(APOB):c.2078A>G (p.Glu693Gly)
|
|
|
NM_000384.3(APOB):c.20C>T (p.Ala7Val)
|
|
|
NM_000384.3(APOB):c.2108C>T (p.Ala703Val)
|
|
|
NM_000384.3(APOB):c.2122C>G (p.Gln708Glu)
|
|
|
NM_000384.3(APOB):c.2129T>A (p.Phe710Tyr)
|
|
|
NM_000384.3(APOB):c.2134C>T (p.Pro712Ser)
|
|
|
NM_000384.3(APOB):c.2157G>T (p.Leu719Phe)
|
|
|
NM_000384.3(APOB):c.2194A>G (p.Lys732Glu)
|
|
|
NM_000384.3(APOB):c.2209C>G (p.His737Asp)
|
rs1663741564
|
|
NM_000384.3(APOB):c.2230G>A (p.Asp744Asn)
|
|
|
NM_000384.3(APOB):c.22CTG[3] (p.Leu9dup)
|
rs1060500237
|
|
NM_000384.3(APOB):c.2302A>G (p.Lys768Glu)
|
rs1553385712
|
|
NM_000384.3(APOB):c.2308G>A (p.Val770Ile)
|
rs1415675587
|
|
NM_000384.3(APOB):c.2346G>C (p.Glu782Asp)
|
|
|
NM_000384.3(APOB):c.2365C>T (p.Leu789Phe)
|
|
|
NM_000384.3(APOB):c.2405G>A (p.Gly802Asp)
|
|
|
NM_000384.3(APOB):c.2435T>C (p.Met812Thr)
|
|
|
NM_000384.3(APOB):c.2446G>A (p.Val816Ile)
|
|
|
NM_000384.3(APOB):c.2454G>C (p.Arg818Ser)
|
|
|
NM_000384.3(APOB):c.2464A>G (p.Lys822Glu)
|
rs1334497935
|
|
NM_000384.3(APOB):c.2466G>T (p.Lys822Asn)
|
rs1663668143
|
|
NM_000384.3(APOB):c.2480T>C (p.Leu827Pro)
|
|
|
NM_000384.3(APOB):c.2482C>T (p.His828Tyr)
|
rs1663667473
|
|
NM_000384.3(APOB):c.250G>T (p.Val84Phe)
|
|
|
NM_000384.3(APOB):c.2515C>A (p.Pro839Thr)
|
|
|
NM_000384.3(APOB):c.2518A>G (p.Thr840Ala)
|
|
|
NM_000384.3(APOB):c.2522G>C (p.Gly841Ala)
|
|
|
NM_000384.3(APOB):c.2620G>A (p.Val874Met)
|
|
|
NM_000384.3(APOB):c.26TGGCGCTGC[3] (p.9LAL[3])
|
rs17240441
|
|
NM_000384.3(APOB):c.2702T>G (p.Met901Arg)
|
|
|
NM_000384.3(APOB):c.2743G>C (p.Val915Leu)
|
|
|
NM_000384.3(APOB):c.2747C>T (p.Ala916Val)
|
|
|
NM_000384.3(APOB):c.2887T>C (p.Trp963Arg)
|
|
|
NM_000384.3(APOB):c.2898C>G (p.Cys966Trp)
|
|
|
NM_000384.3(APOB):c.2962G>A (p.Asp988Asn)
|
|
|
NM_000384.3(APOB):c.2968G>A (p.Ala990Thr)
|
|
|
NM_000384.3(APOB):c.2989G>A (p.Gly997Arg)
|
|
|
NM_000384.3(APOB):c.3056C>T (p.Thr1019Ile)
|
|
|
NM_000384.3(APOB):c.3080G>C (p.Arg1027Thr)
|
|
|
NM_000384.3(APOB):c.3125C>A (p.Ala1042Glu)
|
|
|
NM_000384.3(APOB):c.3128A>G (p.Lys1043Arg)
|
|
|
NM_000384.3(APOB):c.3136G>C (p.Glu1046Gln)
|
|
|
NM_000384.3(APOB):c.3190G>T (p.Val1064Phe)
|
|
|
NM_000384.3(APOB):c.3214G>C (p.Asp1072His)
|
|
|
NM_000384.3(APOB):c.3215A>G (p.Asp1072Gly)
|
rs1663468896
|
|
NM_000384.3(APOB):c.3233G>T (p.Arg1078Ile)
|
|
|
NM_000384.3(APOB):c.3373T>G (p.Ser1125Ala)
|
|
|
NM_000384.3(APOB):c.3410T>A (p.Ile1137Asn)
|
|
|
NM_000384.3(APOB):c.3454T>C (p.Ser1152Pro)
|
|
|
NM_000384.3(APOB):c.3488A>G (p.Lys1163Arg)
|
|
|
NM_000384.3(APOB):c.3490A>G (p.Arg1164Gly)
|
|
|
NM_000384.3(APOB):c.3514G>A (p.Glu1172Lys)
|
|
|
NM_000384.3(APOB):c.3550G>A (p.Val1184Ile)
|
|
|
NM_000384.3(APOB):c.3554A>C (p.Asp1185Ala)
|
|
|
NM_000384.3(APOB):c.35_47delinsCTGCGCT (p.Leu12_Ala16delinsProAlaLeu)
|
rs878853971
|
|
NM_000384.3(APOB):c.3635T>C (p.Leu1212Pro)
|
|
|
NM_000384.3(APOB):c.3637G>A (p.Asp1213Asn)
|
|
|
NM_000384.3(APOB):c.3641A>G (p.His1214Arg)
|
|
|
NM_000384.3(APOB):c.3705C>A (p.Ser1235Arg)
|
|
|
NM_000384.3(APOB):c.3717G>T (p.Gln1239His)
|
rs756559649
|
|
NM_000384.3(APOB):c.3748A>G (p.Thr1250Ala)
|
|
|
NM_000384.3(APOB):c.3818T>A (p.Ile1273Asn)
|
|
|
NM_000384.3(APOB):c.382A>G (p.Arg128Gly)
|
rs1664115534
|
|
NM_000384.3(APOB):c.3832T>C (p.Phe1278Leu)
|
|
|
NM_000384.3(APOB):c.3850C>T (p.Arg1284Trp)
|
|
|
NM_000384.3(APOB):c.3854T>C (p.Val1285Ala)
|
|
|
NM_000384.3(APOB):c.3863C>T (p.Thr1288Ile)
|
rs745401772
|
|
NM_000384.3(APOB):c.3866T>G (p.Leu1289Trp)
|
|
|
NM_000384.3(APOB):c.3878G>A (p.Ser1293Asn)
|
|
|
NM_000384.3(APOB):c.3878G>C (p.Ser1293Thr)
|
rs141443492
|
|
NM_000384.3(APOB):c.38C>T (p.Ala13Val)
|
|
|
NM_000384.3(APOB):c.3927T>A (p.Asp1309Glu)
|
rs966817615
|
|
NM_000384.3(APOB):c.3974C>G (p.Ser1325Cys)
|
|
|
NM_000384.3(APOB):c.3980G>A (p.Gly1327Glu)
|
rs773914667
|
|
NM_000384.3(APOB):c.3995C>T (p.Ser1332Phe)
|
|
|
NM_000384.3(APOB):c.400G>A (p.Ala134Thr)
|
rs368321279
|
|
NM_000384.3(APOB):c.4019T>C (p.Phe1340Ser)
|
|
|
NM_000384.3(APOB):c.4025T>A (p.Ile1342Asn)
|
rs1558566309
|
|
NM_000384.3(APOB):c.4034T>G (p.Leu1345Trp)
|
|
|
NM_000384.3(APOB):c.4107G>C (p.Trp1369Cys)
|
|
|
NM_000384.3(APOB):c.4115C>T (p.Ser1372Phe)
|
|
|
NM_000384.3(APOB):c.4150A>G (p.Ser1384Gly)
|
|
|
NM_000384.3(APOB):c.4162C>T (p.Arg1388Cys)
|
rs267599185
|
|
NM_000384.3(APOB):c.4172T>C (p.Met1391Thr)
|
|
|
NM_000384.3(APOB):c.4201T>C (p.Ser1401Pro)
|
|
|
NM_000384.3(APOB):c.4240C>T (p.His1414Tyr)
|
|
|
NM_000384.3(APOB):c.4246A>G (p.Asn1416Asp)
|
|
|
NM_000384.3(APOB):c.4262C>T (p.Ser1421Leu)
|
|
|
NM_000384.3(APOB):c.4274C>T (p.Ser1425Phe)
|
|
|
NM_000384.3(APOB):c.4316A>G (p.His1439Arg)
|
|
|
NM_000384.3(APOB):c.4348A>G (p.Lys1450Glu)
|
|
|
NM_000384.3(APOB):c.4499C>T (p.Thr1500Ile)
|
|
|
NM_000384.3(APOB):c.4526C>T (p.Pro1509Leu)
|
|
|
NM_000384.3(APOB):c.4544A>T (p.Asn1515Ile)
|
|
|
NM_000384.3(APOB):c.4550A>C (p.Glu1517Ala)
|
|
|
NM_000384.3(APOB):c.4555A>G (p.Asn1519Asp)
|
|
|
NM_000384.3(APOB):c.4687T>C (p.Tyr1563His)
|
|
|
NM_000384.3(APOB):c.4732T>C (p.Tyr1578His)
|
|
|
NM_000384.3(APOB):c.4736A>G (p.Lys1579Arg)
|
|
|
NM_000384.3(APOB):c.4753A>G (p.Asn1585Asp)
|
|
|
NM_000384.3(APOB):c.4760T>C (p.Met1587Thr)
|
|
|
NM_000384.3(APOB):c.4785T>G (p.Asn1595Lys)
|
|
|
NM_000384.3(APOB):c.4796G>T (p.Arg1599Leu)
|
rs746414462
|
|
NM_000384.3(APOB):c.4830G>T (p.Arg1610Ser)
|
rs977664488
|
|
NM_000384.3(APOB):c.4881T>G (p.Asn1627Lys)
|
|
|
NM_000384.3(APOB):c.4883C>T (p.Ala1628Val)
|
|
|
NM_000384.3(APOB):c.4925A>G (p.Lys1642Arg)
|
|
|
NM_000384.3(APOB):c.4951G>A (p.Gly1651Arg)
|
|
|
NM_000384.3(APOB):c.4982A>G (p.Lys1661Arg)
|
|
|
NM_000384.3(APOB):c.49CTG[3] (p.Leu20_Leu22del)
|
|
|
NM_000384.3(APOB):c.5117C>T (p.Thr1706Ile)
|
|
|
NM_000384.3(APOB):c.5158G>A (p.Gly1720Ser)
|
|
|
NM_000384.3(APOB):c.5168G>T (p.Ser1723Ile)
|
rs570383610
|
|
NM_000384.3(APOB):c.5228T>C (p.Met1743Thr)
|
|
|
NM_000384.3(APOB):c.5270T>C (p.Leu1757Pro)
|
|
|
NM_000384.3(APOB):c.5275A>G (p.Ile1759Val)
|
|
|
NM_000384.3(APOB):c.5298C>A (p.Phe1766Leu)
|
|
|
NM_000384.3(APOB):c.5306A>G (p.Lys1769Arg)
|
|
|
NM_000384.3(APOB):c.5347A>T (p.Thr1783Ser)
|
rs1663320551
|
|
NM_000384.3(APOB):c.5380G>C (p.Val1794Leu)
|
|
|
NM_000384.3(APOB):c.53T>A (p.Leu18Gln)
|
|
|
NM_000384.3(APOB):c.5452C>T (p.Pro1818Ser)
|
|
|
NM_000384.3(APOB):c.5478C>G (p.Asn1826Lys)
|
|
|
NM_000384.3(APOB):c.5492A>G (p.Tyr1831Cys)
|
|
|
NM_000384.3(APOB):c.5564C>T (p.Thr1855Ile)
|
|
|
NM_000384.3(APOB):c.5579A>G (p.Gln1860Arg)
|
|
|
NM_000384.3(APOB):c.5588A>G (p.Glu1863Gly)
|
|
|
NM_000384.3(APOB):c.5642T>C (p.Met1881Thr)
|
|
|
NM_000384.3(APOB):c.5668C>A (p.Leu1890Met)
|
|
|
NM_000384.3(APOB):c.5668C>G (p.Leu1890Val)
|
|
|
NM_000384.3(APOB):c.5673T>A (p.His1891Gln)
|
|
|
NM_000384.3(APOB):c.5689C>T (p.Arg1897Cys)
|
rs189341276
|
|
NM_000384.3(APOB):c.5692T>G (p.Ser1898Ala)
|
|
|
NM_000384.3(APOB):c.5728C>T (p.His1910Tyr)
|
|
|
NM_000384.3(APOB):c.5732C>G (p.Thr1911Arg)
|
|
|
NM_000384.3(APOB):c.5737G>A (p.Gly1913Ser)
|
|
|
NM_000384.3(APOB):c.5752G>T (p.Ala1918Ser)
|
|
|
NM_000384.3(APOB):c.5798T>C (p.Leu1933Ser)
|
|
|
NM_000384.3(APOB):c.5846C>T (p.Ser1949Phe)
|
|
|
NM_000384.3(APOB):c.5876G>A (p.Ser1959Asn)
|
|
|
NM_000384.3(APOB):c.5882G>T (p.Ser1961Ile)
|
|
|
NM_000384.3(APOB):c.5902G>A (p.Val1968Ile)
|
|
|
NM_000384.3(APOB):c.5902G>C (p.Val1968Leu)
|
|
|
NM_000384.3(APOB):c.5906G>A (p.Ser1969Asn)
|
|
|
NM_000384.3(APOB):c.5A>C (p.Asp2Ala)
|
|
|
NM_000384.3(APOB):c.6007G>T (p.Asp2003Tyr)
|
|
|
NM_000384.3(APOB):c.6063C>G (p.Asp2021Glu)
|
rs556582055
|
|
NM_000384.3(APOB):c.6122A>G (p.Glu2041Gly)
|
|
|
NM_000384.3(APOB):c.6124A>G (p.Met2042Val)
|
|
|
NM_000384.3(APOB):c.6126G>A (p.Met2042Ile)
|
|
|
NM_000384.3(APOB):c.6130G>A (p.Asp2044Asn)
|
rs1663290052
|
|
NM_000384.3(APOB):c.6133G>A (p.Ala2045Thr)
|
|
|
NM_000384.3(APOB):c.6140A>G (p.Glu2047Gly)
|
|
|
NM_000384.3(APOB):c.6161T>A (p.Ile2054Asn)
|
rs538245770
|
|
NM_000384.3(APOB):c.6271G>C (p.Val2091Leu)
|
|
|
NM_000384.3(APOB):c.6283G>C (p.Val2095Leu)
|
|
|
NM_000384.3(APOB):c.6368A>G (p.Asn2123Ser)
|
rs1663277875
|
|
NM_000384.3(APOB):c.640C>T (p.Arg214Cys)
|
|
|
NM_000384.3(APOB):c.6427A>C (p.Thr2143Pro)
|
|
|
NM_000384.3(APOB):c.6445T>A (p.Tyr2149Asn)
|
|
|
NM_000384.3(APOB):c.6467T>A (p.Ile2156Lys)
|
|
|
NM_000384.3(APOB):c.6530A>C (p.Tyr2177Ser)
|
rs1199919734
|
|
NM_000384.3(APOB):c.6575A>G (p.His2192Arg)
|
|
|
NM_000384.3(APOB):c.6626T>C (p.Leu2209Ser)
|
|
|
NM_000384.3(APOB):c.6645C>A (p.His2215Gln)
|
|
|
NM_000384.3(APOB):c.6754G>A (p.Val2252Met)
|
rs758442604
|
|
NM_000384.3(APOB):c.6754G>T (p.Val2252Leu)
|
rs758442604
|
|
NM_000384.3(APOB):c.6763A>G (p.Lys2255Glu)
|
|
|
NM_000384.3(APOB):c.6791A>G (p.Glu2264Gly)
|
|
|
NM_000384.3(APOB):c.6808A>G (p.Lys2270Glu)
|
|
|
NM_000384.3(APOB):c.682A>G (p.Ile228Val)
|
|
|
NM_000384.3(APOB):c.6839A>C (p.His2280Pro)
|
|
|
NM_000384.3(APOB):c.6853T>G (p.Leu2285Val)
|
|
|
NM_000384.3(APOB):c.6886G>C (p.Val2296Leu)
|
|
|
NM_000384.3(APOB):c.694A>C (p.Thr232Pro)
|
|
|
NM_000384.3(APOB):c.695C>A (p.Thr232Asn)
|
rs756001082
|
|
NM_000384.3(APOB):c.7001T>C (p.Ile2334Thr)
|
|
|
NM_000384.3(APOB):c.7016C>A (p.Ala2339Asp)
|
|
|
NM_000384.3(APOB):c.7022T>C (p.Val2341Ala)
|
|
|
NM_000384.3(APOB):c.7025A>C (p.His2342Pro)
|
|
|
NM_000384.3(APOB):c.7091T>C (p.Leu2364Ser)
|
|
|
NM_000384.3(APOB):c.7094C>A (p.Ala2365Asp)
|
|
|
NM_000384.3(APOB):c.7147C>G (p.Gln2383Glu)
|
|
|
NM_000384.3(APOB):c.7162G>C (p.Asp2388His)
|
|
|
NM_000384.3(APOB):c.7180G>T (p.Val2394Phe)
|
|
|
NM_000384.3(APOB):c.7190T>C (p.Ile2397Thr)
|
|
|
NM_000384.3(APOB):c.7199C>T (p.Ala2400Val)
|
|
|
NM_000384.3(APOB):c.7298A>T (p.His2433Leu)
|
|
|
NM_000384.3(APOB):c.7352A>G (p.Asn2451Ser)
|
|
|
NM_000384.3(APOB):c.7369C>A (p.Leu2457Met)
|
|
|
NM_000384.3(APOB):c.7372G>C (p.Glu2458Gln)
|
|
|
NM_000384.3(APOB):c.7376T>A (p.Leu2459Gln)
|
|
|
NM_000384.3(APOB):c.7396T>G (p.Leu2466Val)
|
|
|
NM_000384.3(APOB):c.7446A>C (p.Glu2482Asp)
|
|
|
NM_000384.3(APOB):c.7466T>G (p.Ile2489Arg)
|
|
|
NM_000384.3(APOB):c.7484G>C (p.Trp2495Ser)
|
|
|
NM_000384.3(APOB):c.7487T>C (p.Leu2496Ser)
|
|
|
NM_000384.3(APOB):c.7501A>T (p.Ser2501Cys)
|
|
|
NM_000384.3(APOB):c.7520A>G (p.His2507Arg)
|
rs766283781
|
|
NM_000384.3(APOB):c.759G>T (p.Arg253Ser)
|
|
|
NM_000384.3(APOB):c.7692T>G (p.Phe2564Leu)
|
|
|
NM_000384.3(APOB):c.7718G>C (p.Trp2573Ser)
|
rs1663235432
|
|
NM_000384.3(APOB):c.7726C>T (p.Arg2576Cys)
|
rs767146440
|
|
NM_000384.3(APOB):c.7736C>G (p.Ala2579Gly)
|
|
|
NM_000384.3(APOB):c.7739T>C (p.Leu2580Ser)
|
|
|
NM_000384.3(APOB):c.7751G>C (p.Gly2584Ala)
|
|
|
NM_000384.3(APOB):c.7772A>G (p.Lys2591Arg)
|
|
|
NM_000384.3(APOB):c.7791G>A (p.Met2597Ile)
|
|
|
NM_000384.3(APOB):c.7792C>T (p.Pro2598Ser)
|
|
|
NM_000384.3(APOB):c.7835T>C (p.Phe2612Ser)
|
|
|
NM_000384.3(APOB):c.7843C>T (p.Pro2615Ser)
|
rs143056106
|
|
NM_000384.3(APOB):c.7955T>C (p.Ile2652Thr)
|
rs1221037514
|
|
NM_000384.3(APOB):c.7987A>T (p.Ile2663Phe)
|
|
|
NM_000384.3(APOB):c.8082G>C (p.Arg2694Ser)
|
|
|
NM_000384.3(APOB):c.8108T>C (p.Leu2703Pro)
|
|
|
NM_000384.3(APOB):c.8119A>T (p.Thr2707Ser)
|
|
|
NM_000384.3(APOB):c.8181C>A (p.Asn2727Lys)
|
rs958169216
|
|
NM_000384.3(APOB):c.8193T>A (p.Phe2731Leu)
|
|
|
NM_000384.3(APOB):c.8216C>A (p.Pro2739Gln)
|
|
|
NM_000384.3(APOB):c.8226G>T (p.Gln2742His)
|
rs376773500
|
|
NM_000384.3(APOB):c.8258C>T (p.Pro2753Leu)
|
|
|
NM_000384.3(APOB):c.8299C>A (p.Pro2767Thr)
|
|
|
NM_000384.3(APOB):c.8322T>A (p.Asn2774Lys)
|
|
|
NM_000384.3(APOB):c.8342C>T (p.Thr2781Ile)
|
|
|
NM_000384.3(APOB):c.8366T>A (p.Ile2789Asn)
|
|
|
NM_000384.3(APOB):c.8375C>G (p.Ser2792Cys)
|
rs368776368
|
|
NM_000384.3(APOB):c.8405A>T (p.Glu2802Val)
|
|
|
NM_000384.3(APOB):c.8408T>C (p.Val2803Ala)
|
|
|
NM_000384.3(APOB):c.8483T>C (p.Val2828Ala)
|
|
|
NM_000384.3(APOB):c.8498A>C (p.Lys2833Thr)
|
|
|
NM_000384.3(APOB):c.8529G>T (p.Met2843Ile)
|
|
|
NM_000384.3(APOB):c.8531T>A (p.Leu2844Gln)
|
|
|
NM_000384.3(APOB):c.8558A>T (p.Lys2853Ile)
|
|
|
NM_000384.3(APOB):c.8621T>A (p.Ile2874Asn)
|
|
|
NM_000384.3(APOB):c.8645C>T (p.Thr2882Ile)
|
rs113399155
|
|
NM_000384.3(APOB):c.8682C>G (p.Asn2894Lys)
|
|
|
NM_000384.3(APOB):c.8689A>G (p.Lys2897Glu)
|
|
|
NM_000384.3(APOB):c.8761T>G (p.Trp2921Gly)
|
|
|
NM_000384.3(APOB):c.8780G>C (p.Gly2927Ala)
|
|
|
NM_000384.3(APOB):c.8787G>C (p.Trp2929Cys)
|
|
|
NM_000384.3(APOB):c.8816A>G (p.Glu2939Gly)
|
|
|
NM_000384.3(APOB):c.8858C>A (p.Pro2953His)
|
rs754457820
|
|
NM_000384.3(APOB):c.8863A>T (p.Thr2955Ser)
|
|
|
NM_000384.3(APOB):c.8932T>A (p.Ser2978Thr)
|
|
|
NM_000384.3(APOB):c.9021G>A (p.Met3007Ile)
|
|
|
NM_000384.3(APOB):c.9056G>A (p.Gly3019Glu)
|
rs139751468
|
|
NM_000384.3(APOB):c.9060G>T (p.Arg3020Ser)
|
|
|
NM_000384.3(APOB):c.9062A>T (p.His3021Leu)
|
|
|
NM_000384.3(APOB):c.9076A>C (p.Asn3026His)
|
|
|
NM_000384.3(APOB):c.9077A>G (p.Asn3026Ser)
|
|
|
NM_000384.3(APOB):c.9080G>A (p.Gly3027Glu)
|
rs757895045
|
|
NM_000384.3(APOB):c.9085G>A (p.Val3029Ile)
|
|
|
NM_000384.3(APOB):c.9092G>C (p.Gly3031Ala)
|
|
|
NM_000384.3(APOB):c.9110T>G (p.Leu3037Arg)
|
rs1490729577
|
|
NM_000384.3(APOB):c.9140C>T (p.Thr3047Met)
|
rs61742323
|
|
NM_000384.3(APOB):c.9158A>G (p.Glu3053Gly)
|
|
|
NM_000384.3(APOB):c.9173T>G (p.Val3058Gly)
|
|
|
NM_000384.3(APOB):c.9175C>T (p.Arg3059Cys)
|
|
|
NM_000384.3(APOB):c.9196G>A (p.Gly3066Arg)
|
|
|
NM_000384.3(APOB):c.9199A>G (p.Lys3067Glu)
|
|
|
NM_000384.3(APOB):c.919G>A (p.Gly307Ser)
|
|
|
NM_000384.3(APOB):c.9276G>T (p.Arg3092Ser)
|
|
|
NM_000384.3(APOB):c.9318C>G (p.Asn3106Lys)
|
|
|
NM_000384.3(APOB):c.9371A>G (p.Asp3124Gly)
|
|
|
NM_000384.3(APOB):c.9398C>T (p.Pro3133Leu)
|
|
|
NM_000384.3(APOB):c.9430A>G (p.Thr3144Ala)
|
|
|
NM_000384.3(APOB):c.9457T>C (p.Trp3153Arg)
|
rs761484953
|
|
NM_000384.3(APOB):c.9498G>C (p.Lys3166Asn)
|
|
|
NM_000384.3(APOB):c.9502T>A (p.Ser3168Thr)
|
rs761382742
|
|
NM_000384.3(APOB):c.952C>A (p.Pro318Thr)
|
rs758678209
|
|
NM_000384.3(APOB):c.9541A>C (p.Lys3181Gln)
|
rs774329033
|
|
NM_000384.3(APOB):c.9547A>G (p.Arg3183Gly)
|
|
|
NM_000384.3(APOB):c.9568T>G (p.Leu3190Val)
|
|
|
NM_000384.3(APOB):c.9616A>G (p.Arg3206Gly)
|
|
|
NM_000384.3(APOB):c.9627A>T (p.Glu3209Asp)
|
|
|
NM_000384.3(APOB):c.962A>C (p.Gln321Pro)
|
|
|
NM_000384.3(APOB):c.9644C>G (p.Ala3215Gly)
|
|
|
NM_000384.3(APOB):c.9667T>C (p.Tyr3223His)
|
|
|
NM_000384.3(APOB):c.9683T>C (p.Ile3228Thr)
|
rs1558561906
|
|
NM_000384.3(APOB):c.9698A>T (p.Tyr3233Phe)
|
|
|
NM_000384.3(APOB):c.9706G>C (p.Glu3236Gln)
|
|
|
NM_000384.3(APOB):c.9715C>T (p.His3239Tyr)
|
rs755547544
|
|
NM_000384.3(APOB):c.9800T>A (p.Met3267Lys)
|
|
|
NM_000384.3(APOB):c.9824C>T (p.Pro3275Leu)
|
|
|
NM_000384.3(APOB):c.9840G>A (p.Met3280Ile)
|
|
|
NM_000384.3(APOB):c.9840G>C (p.Met3280Ile)
|
|
|
NM_000384.3(APOB):c.9867C>A (p.Asp3289Glu)
|
rs72654404
|
|
NM_000384.3(APOB):c.9871C>T (p.Arg3291Cys)
|
|
|
NM_000384.3(APOB):c.9923A>C (p.His3308Pro)
|
|
|
NM_000393.5(COL5A2):c.4096A>G (p.Met1366Val)
|
rs372226064
|
|
NM_000432.4(MYL2):c.-1C>T
|
|
|
NM_000432.4(MYL2):c.103A>G (p.Ile35Val)
|
rs730880946
|
|
NM_000432.4(MYL2):c.112C>A (p.Gln38Lys)
|
|
|
NM_000432.4(MYL2):c.119G>A (p.Arg40Lys)
|
rs727503299
|
|
NM_000432.4(MYL2):c.144T>A (p.Asp48Glu)
|
rs2136774026
|
|
NM_000432.4(MYL2):c.185A>C (p.Lys62Thr)
|
|
|
NM_000432.4(MYL2):c.188del (p.Asn63fs)
|
rs1177936172
|
|
NM_000432.4(MYL2):c.247C>T (p.Leu83Phe)
|
|
|
NM_000432.4(MYL2):c.253A>G (p.Met85Val)
|
rs1592800281
|
|
NM_000432.4(MYL2):c.260G>A (p.Gly87Glu)
|
rs397516399
|
|
NM_000432.4(MYL2):c.260G>C (p.Gly87Ala)
|
rs397516399
|
|
NM_000432.4(MYL2):c.275G>A (p.Gly92Glu)
|
rs727503297
|
|
NM_000432.4(MYL2):c.289G>A (p.Glu97Lys)
|
rs1555257777
|
|
NM_000432.4(MYL2):c.298C>T (p.Leu100Phe)
|
|
|
NM_000432.4(MYL2):c.299_309del (p.Leu100fs)
|
rs2071666850
|
|
NM_000432.4(MYL2):c.3+1G>T
|
rs730880948
|
|
NM_000432.4(MYL2):c.304G>A (p.Ala102Thr)
|
rs369868176
|
|
NM_000432.4(MYL2):c.305C>T (p.Ala102Val)
|
rs2071666913
|
|
NM_000432.4(MYL2):c.308T>G (p.Phe103Cys)
|
rs547860537
|
|
NM_000432.4(MYL2):c.328G>A (p.Gly110Ser)
|
|
|
NM_000432.4(MYL2):c.335G>A (p.Gly112Glu)
|
|
|
NM_000432.4(MYL2):c.347C>T (p.Ala116Val)
|
rs1566148270
|
|
NM_000432.4(MYL2):c.40A>C (p.Asn14His)
|
|
|
NM_000432.4(MYL2):c.41A>G (p.Asn14Ser)
|
|
|
NM_000432.4(MYL2):c.424T>C (p.Phe142Leu)
|
rs747192296
|
|
NM_000432.4(MYL2):c.431_432del (p.Pro144fs)
|
rs1566147422
|
|
NM_000432.4(MYL2):c.431del (p.Pro144fs)
|
rs786205430
|
|
NM_000432.4(MYL2):c.442G>A (p.Gly148Ser)
|
|
|
NM_000432.4(MYL2):c.448T>G (p.Leu150Val)
|
|
|
NM_000432.4(MYL2):c.476T>C (p.Ile159Thr)
|
|
|
NM_000432.4(MYL2):c.479C>A (p.Thr160Asn)
|
|
|
NM_000432.4(MYL2):c.479C>G (p.Thr160Ser)
|
rs2071647980
|
|
NM_000432.4(MYL2):c.47del (p.Asn16fs)
|
rs781431079
|
|
NM_000432.4(MYL2):c.483C>A (p.His161Gln)
|
rs886039108
|
|
NM_000432.4(MYL2):c.490G>A (p.Glu164Lys)
|
|
|
NM_000432.4(MYL2):c.493_495del (p.Lys165del)
|
|
|
NM_000432.4(MYL2):c.4G>A (p.Ala2Thr)
|
rs1060499882
|
|
NM_000432.4(MYL2):c.50T>C (p.Val17Ala)
|
rs2136777356
|
|
NM_000432.4(MYL2):c.61T>G (p.Phe21Val)
|
|
|
NM_000432.4(MYL2):c.64G>T (p.Glu22Ter)
|
rs104894368
|
|
NM_000432.4(MYL2):c.7C>T (p.Pro3Ser)
|
|
|
NM_000432.4(MYL2):c.83_93+1del
|
|
|
NM_000432.4(MYL2):c.93+5G>A
|
rs2071703564
|
|
NM_000483.5(APOC2):c.101C>T (p.Pro34Leu)
|
|
|
NM_000483.5(APOC2):c.10C>G (p.Arg4Gly)
|
|
|
NM_000483.5(APOC2):c.11G>A (p.Arg4Gln)
|
|
|
NM_000483.5(APOC2):c.163G>A (p.Ala55Thr)
|
|
|
NM_000483.5(APOC2):c.193C>T (p.Pro65Ser)
|
|
|
NM_000483.5(APOC2):c.199G>A (p.Val67Ile)
|
|
|
NM_000483.5(APOC2):c.257C>G (p.Thr86Arg)
|
|
|
NM_000483.5(APOC2):c.262A>C (p.Ile88Leu)
|
|
|
NM_000483.5(APOC2):c.296G>A (p.Gly99Glu)
|
|
|
NM_000483.5(APOC2):c.296G>C (p.Gly99Ala)
|
|
|
NM_000483.5(APOC2):c.4G>C (p.Gly2Arg)
|
|
|
NM_000483.5(APOC2):c.52T>G (p.Phe18Val)
|
|
|
NM_000483.5(APOC2):c.68C>T (p.Thr23Ile)
|
|
|
NM_000483.5(APOC2):c.73C>A (p.Gln25Lys)
|
|
|
NM_000483.5(APOC2):c.83A>G (p.Gln28Arg)
|
|
|
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
|
|
|
NM_000527.5(LDLR):c.1053A>G (p.Arg351=)
|
|
|
NM_000527.5(LDLR):c.1057G>A (p.Glu353Lys)
|
|
|
NM_000527.5(LDLR):c.1060+10G>A
|
|
|
NM_000527.5(LDLR):c.1070A>T (p.Glu357Val)
|
|
|
NM_000527.5(LDLR):c.108C>A (p.Asp36Glu)
|
rs373144619
|
|
NM_000527.5(LDLR):c.10_40delinsCGGGGGCTGGAAATTGCGCTGGACCGTCGCC (p.Trp4_Ala13delinsArgGlyLeuGluIleAlaLeuAspArgArg)
|
|
|
NM_000527.5(LDLR):c.1154T>C (p.Leu385Pro)
|
rs879254809
|
|
NM_000527.5(LDLR):c.1177A>G (p.Lys393Glu)
|
|
|
NM_000527.5(LDLR):c.1207T>C (p.Phe403Leu)
|
rs879254831
|
|
NM_000527.5(LDLR):c.1224G>C (p.Glu408Asp)
|
|
|
NM_000527.5(LDLR):c.1294C>G (p.Leu432Val)
|
rs730882100
|
|
NM_000527.5(LDLR):c.1304A>G (p.Glu435Gly)
|
|
|
NM_000527.5(LDLR):c.1304A>T (p.Glu435Val)
|
|
|
NM_000527.5(LDLR):c.1333G>T (p.Asp445Tyr)
|
|
|
NM_000527.5(LDLR):c.1358+2T>C
|
rs193922567
|
|
NM_000527.5(LDLR):c.1399_1400delinsTA (p.Thr467Tyr)
|
|
|
NM_000527.5(LDLR):c.139G>A (p.Asp47Asn)
|
|
|
NM_000527.5(LDLR):c.1472C>A (p.Thr491Asn)
|
rs879254917
|
|
NM_000527.5(LDLR):c.1546G>A (p.Gly516Ser)
|
|
|
NM_000527.5(LDLR):c.1549T>G (p.Ser517Ala)
|
|
|
NM_000527.5(LDLR):c.1567G>C (p.Val523Leu)
|
rs28942080
|
|
NM_000527.5(LDLR):c.1574A>T (p.Asp525Val)
|
rs879254943
|
|
NM_000527.5(LDLR):c.1587-3C>G
|
|
|
NM_000527.5(LDLR):c.1592T>G (p.Met531Arg)
|
rs779913921
|
|
NM_000527.5(LDLR):c.1622A>G (p.Lys541Arg)
|
|
|
NM_000527.5(LDLR):c.1664T>G (p.Leu555Arg)
|
|
|
NM_000527.5(LDLR):c.1688C>A (p.Pro563His)
|
rs879254987
|
|
NM_000527.5(LDLR):c.1690A>G (p.Asn564Asp)
|
rs397509365
|
|
NM_000527.5(LDLR):c.1705G>T (p.Asp569Tyr)
|
rs879254993
|
|
NM_000527.5(LDLR):c.1706A>G (p.Asp569Gly)
|
|
|
NM_000527.5(LDLR):c.1721G>A (p.Arg574His)
|
|
|
NM_000527.5(LDLR):c.1723C>T (p.Leu575Phe)
|
rs1205480064
|
|
NM_000527.5(LDLR):c.1732G>T (p.Val578Phe)
|
rs1301458707
|
|
NM_000527.5(LDLR):c.1744C>T (p.Leu582Phe)
|
rs1131692216
|
|
NM_000527.5(LDLR):c.1761C>G (p.Ser587Arg)
|
rs753430282
|
|
NM_000527.5(LDLR):c.1801G>C (p.Asp601His)
|
|
|
NM_000527.5(LDLR):c.1816G>A (p.Ala606Thr)
|
rs72658865
|
|
NM_000527.5(LDLR):c.1821C>G (p.His607Gln)
|
|
|
NM_000527.5(LDLR):c.1834G>C (p.Ala612Pro)
|
|
|
NM_000527.5(LDLR):c.1846-3T>G
|
|
|
NM_000527.5(LDLR):c.185C>T (p.Thr62Met)
|
|
|
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)
|
|
|
NM_000527.5(LDLR):c.1882A>C (p.Ile628Leu)
|
|
|
NM_000527.5(LDLR):c.1883T>C (p.Ile628Thr)
|
rs879255067
|
|
NM_000527.5(LDLR):c.1895A>G (p.Asn632Ser)
|
|
|
NM_000527.5(LDLR):c.1895A>T (p.Asn632Ile)
|
rs1202258257
|
|
NM_000527.5(LDLR):c.190+5G>A
|
rs1131692190
|
|
NM_000527.5(LDLR):c.190+5G>C
|
|
|
NM_000527.5(LDLR):c.1903A>C (p.Thr635Pro)
|
|
|
NM_000527.5(LDLR):c.1925T>G (p.Leu642Trp)
|
|
|
NM_000527.5(LDLR):c.1945C>T (p.Pro649Ser)
|
rs879255080
|
|
NM_000527.5(LDLR):c.1955T>C (p.Met652Thr)
|
rs875989936
|
|
NM_000527.5(LDLR):c.1961T>C (p.Leu654Pro)
|
rs2077526349
|
|
NM_000527.5(LDLR):c.1980G>C (p.Gln660His)
|
rs1382517876
|
|
NM_000527.5(LDLR):c.1987+1G>A
|
|
|
NM_000527.5(LDLR):c.2034G>T (p.Gln678His)
|
|
|
NM_000527.5(LDLR):c.2045T>C (p.Leu682Pro)
|
rs879255119
|
|
NM_000527.5(LDLR):c.2051C>T (p.Ala684Val)
|
|
|
NM_000527.5(LDLR):c.2113G>T (p.Ala705Ser)
|
rs193922570
|
|
NM_000527.5(LDLR):c.2114_2120delinsG (p.Ala705_Asp707delinsGly)
|
|
|
NM_000527.5(LDLR):c.226G>T (p.Gly76Trp)
|
rs574337291
|
|
NM_000527.5(LDLR):c.2336G>C (p.Gly779Ala)
|
|
|
NM_000527.5(LDLR):c.2337_2354del (p.Asn780_Ser785del)
|
|
|
NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del)
|
|
|
NM_000527.5(LDLR):c.2407_2424del (p.Cys803_Leu808del)
|
rs879255201
|
|
NM_000527.5(LDLR):c.2447A>G (p.Lys816Arg)
|
|
|
NM_000527.5(LDLR):c.2506G>A (p.Val836Ile)
|
rs879255220
|
|
NM_000527.5(LDLR):c.2547+5G>A
|
rs879255226
|
|
NM_000527.5(LDLR):c.340T>A (p.Phe114Ile)
|
rs776716507
|
|
NM_000527.5(LDLR):c.352G>A (p.Asp118Asn)
|
rs730882080
|
|
NM_000527.5(LDLR):c.367T>C (p.Ser123Pro)
|
rs879254495
|
|
NM_000527.5(LDLR):c.379G>A (p.Val127Ile)
|
rs2147223533
|
|
NM_000527.5(LDLR):c.406G>A (p.Asp136Asn)
|
rs2077270167
|
|
NM_000527.5(LDLR):c.454A>G (p.Ser152Gly)
|
|
|
NM_000527.5(LDLR):c.484C>T (p.Pro162Ser)
|
|
|
NM_000527.5(LDLR):c.508_510del (p.Asp170del)
|
|
|
NM_000527.5(LDLR):c.520G>A (p.Glu174Lys)
|
|
|
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg)
|
rs557344672
|
|
NM_000527.5(LDLR):c.635_643dup (p.Trp214_Arg215insProSerTrp)
|
|
|
NM_000527.5(LDLR):c.666C>T (p.Cys222=)
|
rs756613387
|
|
NM_000527.5(LDLR):c.769C>T (p.Arg257Trp)
|
|
|
NM_000527.5(LDLR):c.845T>A (p.Phe282Tyr)
|
|
|
NM_000527.5(LDLR):c.884T>G (p.Val295Gly)
|
|
|
NM_000527.5(LDLR):c.932A>G (p.Lys311Arg)
|
rs761765254
|
|
NM_000527.5(LDLR):c.95T>C (p.Phe32Ser)
|
rs879254403
|
|
NM_000527.5(LDLR):c.967G>C (p.Gly323Arg)
|
|
|
NM_000719.7(CACNA1C):c.-2C>T
|
|
|
NM_000719.7(CACNA1C):c.1113+3A>G
|
|
|
NM_000719.7(CACNA1C):c.1113+4C>G
|
|
|
NM_000719.7(CACNA1C):c.121G>A (p.Glu41Lys)
|
|
|
NM_000719.7(CACNA1C):c.1252C>T (p.Arg418Trp)
|
|
|
NM_000719.7(CACNA1C):c.127A>C (p.Ile43Leu)
|
|
|
NM_000719.7(CACNA1C):c.1372GAG[1] (p.Glu459del)
|
|
|
NM_000719.7(CACNA1C):c.1394G>A (p.Ser465Asn)
|
|
|
NM_000719.7(CACNA1C):c.13A>C (p.Asn5His)
|
rs886049150
|
|
NM_000719.7(CACNA1C):c.1484A>G (p.His495Arg)
|
|
|
NM_000719.7(CACNA1C):c.14A>G (p.Asn5Ser)
|
rs1555075958
|
|
NM_000719.7(CACNA1C):c.15_16del (p.Thr6fs)
|
rs786205782
|
|
NM_000719.7(CACNA1C):c.1618A>G (p.Thr540Ala)
|
|
|
NM_000719.7(CACNA1C):c.161C>T (p.Ala54Val)
|
rs775019372
|
|
NM_000719.7(CACNA1C):c.1694C>T (p.Ala565Val)
|
|
|
NM_000719.7(CACNA1C):c.17C>G (p.Thr6Arg)
|
|
|
NM_000719.7(CACNA1C):c.17C>T (p.Thr6Met)
|
|
|
NM_000719.7(CACNA1C):c.1852G>A (p.Val618Met)
|
rs775536781
|
|
NM_000719.7(CACNA1C):c.1895+3A>T
|
|
|
NM_000719.7(CACNA1C):c.2023G>A (p.Gly675Arg)
|
|
|
NM_000719.7(CACNA1C):c.2225-5_2225-2del
|
|
|
NM_000719.7(CACNA1C):c.226G>C (p.Val76Leu)
|
|
|
NM_000719.7(CACNA1C):c.2276C>A (p.Ala759Asp)
|
|
|
NM_000719.7(CACNA1C):c.2284C>T (p.Leu762Phe)
|
rs2061710859
|
|
NM_000719.7(CACNA1C):c.2311GAG[1] (p.Glu772del)
|
rs786205770
|
|
NM_000719.7(CACNA1C):c.2317_2319del (p.Lys773del)
|
rs786205771
|
|
NM_000719.7(CACNA1C):c.2339+5C>A
|
rs554086967
|
|
NM_000719.7(CACNA1C):c.2345C>G (p.Ala782Gly)
|
|
|
NM_000719.7(CACNA1C):c.2348G>A (p.Ser783Asn)
|
|
|
NM_000719.7(CACNA1C):c.2386G>C (p.Val796Leu)
|
|
|
NM_000719.7(CACNA1C):c.2399A>C (p.Lys800Thr)
|
|
|
NM_000719.7(CACNA1C):c.2401GAG[1] (p.Glu802del)
|
rs771014370
|
|
NM_000719.7(CACNA1C):c.2446C>T (p.Pro816Ser)
|
rs1380611135
|
|
NM_000719.7(CACNA1C):c.2455A>G (p.Thr819Ala)
|
rs1453935757
|
|
NM_000719.7(CACNA1C):c.2464A>T (p.Asn822Tyr)
|
|
|
NM_000719.7(CACNA1C):c.2512C>T (p.Pro838Ser)
|
|
|
NM_000719.7(CACNA1C):c.2536G>A (p.Glu846Lys)
|
rs1295351612
|
|
NM_000719.7(CACNA1C):c.2555A>C (p.Glu852Ala)
|
|
|
NM_000719.7(CACNA1C):c.2615T>C (p.Val872Ala)
|
|
|
NM_000719.7(CACNA1C):c.2664G>C (p.Arg888Ser)
|
rs754046062
|
|
NM_000719.7(CACNA1C):c.2794-5T>C
|
rs1568666242
|
|
NM_000719.7(CACNA1C):c.2807T>G (p.Phe936Cys)
|
rs762624889
|
|
NM_000719.7(CACNA1C):c.2968G>C (p.Ala990Pro)
|
|
|
NM_000719.7(CACNA1C):c.3181A>G (p.Ser1061Gly)
|
|
|
NM_000719.7(CACNA1C):c.3206G>A (p.Cys1069Tyr)
|
|
|
NM_000719.7(CACNA1C):c.3234C>A (p.Asp1078Glu)
|
rs111606207
|
|
NM_000719.7(CACNA1C):c.3254_3260dup (p.Gln1087fs)
|
|
|
NM_000719.7(CACNA1C):c.3358C>G (p.Leu1120Val)
|
|
|
NM_000719.7(CACNA1C):c.3368G>A (p.Arg1123His)
|
rs745853358
|
|
NM_000719.7(CACNA1C):c.3457A>G (p.Ile1153Val)
|
rs370798052
|
|
NM_000719.7(CACNA1C):c.3460G>A (p.Ala1154Thr)
|
rs1601930985
|
|
NM_000719.7(CACNA1C):c.3544C>G (p.Leu1182Val)
|
|
|
NM_000719.7(CACNA1C):c.3659A>G (p.Tyr1220Cys)
|
|
|
NM_000719.7(CACNA1C):c.3718-5T>C
|
|
|
NM_000719.7(CACNA1C):c.3862G>T (p.Ala1288Ser)
|
|
|
NM_000719.7(CACNA1C):c.3904G>A (p.Glu1302Lys)
|
rs886038890
|
|
NM_000719.7(CACNA1C):c.3950C>T (p.Ala1317Val)
|
|
|
NM_000719.7(CACNA1C):c.4043C>T (p.Thr1348Met)
|
|
|
NM_000719.7(CACNA1C):c.4349G>A (p.Ser1450Asn)
|
rs1009822245
|
|
NM_000719.7(CACNA1C):c.4393T>C (p.Phe1465Leu)
|
rs886038809
|
|
NM_000719.7(CACNA1C):c.4411T>C (p.Phe1471Leu)
|
rs1555997051
|
|
NM_000719.7(CACNA1C):c.4453dup (p.Asp1485fs)
|
|
|
NM_000719.7(CACNA1C):c.4477C>G (p.His1493Asp)
|
|
|
NM_000719.7(CACNA1C):c.4549GTG[1] (p.Val1518del)
|
|
|
NM_000719.7(CACNA1C):c.4597C>G (p.Leu1533Val)
|
|
|
NM_000719.7(CACNA1C):c.4609C>T (p.Arg1537Cys)
|
|
|
NM_000719.7(CACNA1C):c.4666_4669dup (p.Met1557fs)
|
rs2096394881
|
|
NM_000719.7(CACNA1C):c.4760C>A (p.Ala1587Glu)
|
|
|
NM_000719.7(CACNA1C):c.4760C>T (p.Ala1587Val)
|
rs751224055
|
|
NM_000719.7(CACNA1C):c.4773G>T (p.Lys1591Asn)
|
rs786205763
|
|
NM_000719.7(CACNA1C):c.4819C>G (p.Pro1607Ala)
|
rs745938574
|
|
NM_000719.7(CACNA1C):c.4828+1G>A
|
rs2153757423
|
|
NM_000719.7(CACNA1C):c.4885C>T (p.Arg1629Trp)
|
|
|
NM_000719.7(CACNA1C):c.4886G>A (p.Arg1629Gln)
|
|
|
NM_000719.7(CACNA1C):c.49+3A>G
|
|
|
NM_000719.7(CACNA1C):c.49+5G>A
|
|
|
NM_000719.7(CACNA1C):c.4984G>A (p.Gly1662Arg)
|
rs778011390
|
|
NM_000719.7(CACNA1C):c.4996C>T (p.Arg1666Ter)
|
|
|
NM_000719.7(CACNA1C):c.5065GCT[1] (p.Ala1690del)
|
rs1569209887
|
|
NM_000719.7(CACNA1C):c.5131C>G (p.Gln1711Glu)
|
|
|
NM_000719.7(CACNA1C):c.5143C>T (p.Arg1715Trp)
|
rs373996684
|
|
NM_000719.7(CACNA1C):c.5168C>T (p.Thr1723Ile)
|
|
|
NM_000719.7(CACNA1C):c.5174A>T (p.Gln1725Leu)
|
|
|
NM_000719.7(CACNA1C):c.5180C>T (p.Pro1727Leu)
|
rs2153803252
|
|
NM_000719.7(CACNA1C):c.5191A>G (p.Asn1731Asp)
|
|
|
NM_000719.7(CACNA1C):c.5200G>A (p.Gly1734Ser)
|
|
|
NM_000719.7(CACNA1C):c.5213G>A (p.Gly1738Asp)
|
|
|
NM_000719.7(CACNA1C):c.5308G>A (p.Ala1770Thr)
|
rs912150219
|
|
NM_000719.7(CACNA1C):c.5347G>T (p.Gly1783Cys)
|
rs781633980
|
|
NM_000719.7(CACNA1C):c.5410G>T (p.Val1804Leu)
|
|
|
NM_000719.7(CACNA1C):c.542A>G (p.Tyr181Cys)
|
|
|
NM_000719.7(CACNA1C):c.5431C>T (p.Leu1811Phe)
|
|
|
NM_000719.7(CACNA1C):c.5503G>A (p.Glu1835Lys)
|
rs1060503442
|
|
NM_000719.7(CACNA1C):c.5518A>G (p.Lys1840Glu)
|
|
|
NM_000719.7(CACNA1C):c.5564C>T (p.Ser1855Phe)
|
|
|
NM_000719.7(CACNA1C):c.5619GGA[1] (p.Glu1874del)
|
rs757172314
|
|
NM_000719.7(CACNA1C):c.5654G>C (p.Arg1885Thr)
|
|
|
NM_000719.7(CACNA1C):c.5665C>A (p.Arg1889Ser)
|
|
|
NM_000719.7(CACNA1C):c.5711_5712del (p.Leu1904fs)
|
|
|
NM_000719.7(CACNA1C):c.5731G>A (p.Gly1911Arg)
|
rs374528680
|
|
NM_000719.7(CACNA1C):c.5773G>T (p.Val1925Phe)
|
|
|
NM_000719.7(CACNA1C):c.5798C>G (p.Ala1933Gly)
|
|
|
NM_000719.7(CACNA1C):c.5817C>T (p.Leu1939=)
|
|
|
NM_000719.7(CACNA1C):c.5820G>C (p.Gln1940His)
|
|
|
NM_000719.7(CACNA1C):c.5839T>C (p.Ser1947Pro)
|
|
|
NM_000719.7(CACNA1C):c.5873C>T (p.Thr1958Ile)
|
rs377173230
|
|
NM_000719.7(CACNA1C):c.5903C>A (p.Pro1968His)
|
rs2153865329
|
|
NM_000719.7(CACNA1C):c.5917C>T (p.Arg1973Trp)
|
rs774402582
|
|
NM_000719.7(CACNA1C):c.6029G>T (p.Arg2010Ile)
|
|
|
NM_000719.7(CACNA1C):c.6031G>A (p.Val2011Ile)
|
rs193922615
|
|
NM_000719.7(CACNA1C):c.6060_6065del (p.Gln2021_Ala2022del)
|
rs1569288182
|
|
NM_000719.7(CACNA1C):c.6068G>A (p.Gly2023Glu)
|
rs377312264
|
|
NM_000719.7(CACNA1C):c.6084G>T (p.Gln2028His)
|
rs767141738
|
|
NM_000719.7(CACNA1C):c.6097G>A (p.Ala2033Thr)
|
|
|
NM_000719.7(CACNA1C):c.6117+3A>G
|
|
|
NM_000719.7(CACNA1C):c.6172G>A (p.Val2058Ile)
|
|
|
NM_000719.7(CACNA1C):c.619C>A (p.Leu207Ile)
|
|
|
NM_000719.7(CACNA1C):c.6250G>A (p.Gly2084Arg)
|
rs1060503444
|
|
NM_000719.7(CACNA1C):c.6273T>G (p.Asn2091Lys)
|
|
|
NM_000719.7(CACNA1C):c.6275G>C (p.Gly2092Ala)
|
rs755430543
|
|
NM_000719.7(CACNA1C):c.6303G>T (p.Arg2101Ser)
|
|
|
NM_000719.7(CACNA1C):c.6320G>A (p.Arg2107Gln)
|
|
|
NM_000719.7(CACNA1C):c.6328G>A (p.Gly2110Ser)
|
|
|
NM_000719.7(CACNA1C):c.6329dup (p.Glu2111fs)
|
rs771708175
|
|
NM_000719.7(CACNA1C):c.6344G>A (p.Gly2115Asp)
|
rs199694744
|
|
NM_000719.7(CACNA1C):c.6353G>A (p.Arg2118His)
|
|
|
NM_000719.7(CACNA1C):c.6355G>A (p.Ala2119Thr)
|
rs1470889027
|
|
NM_000719.7(CACNA1C):c.6356C>T (p.Ala2119Val)
|
|
|
NM_000719.7(CACNA1C):c.6371G>A (p.Ser2124Asn)
|
rs886049210
|
|
NM_000719.7(CACNA1C):c.6394A>G (p.Arg2132Gly)
|
rs766262489
|
|
NM_000719.7(CACNA1C):c.65G>A (p.Ser22Asn)
|
|
|
NM_000719.7(CACNA1C):c.664A>T (p.Asn222Tyr)
|
|
|
NM_000719.7(CACNA1C):c.737G>A (p.Arg246Gln)
|
|
|
NM_000719.7(CACNA1C):c.7_9del (p.Asn3del)
|
|
|
NM_000719.7(CACNA1C):c.847G>A (p.Ala283Thr)
|
|
|
NM_000719.7(CACNA1C):c.856G>A (p.Gly286Ser)
|
|
|
NM_000719.7(CACNA1C):c.922C>T (p.Pro308Ser)
|
|
|
NM_000719.7(CACNA1C):c.950C>T (p.Ala317Val)
|
rs533892755
|
|
NM_000719.7(CACNA1C):c.985G>A (p.Gly329Ser)
|
rs786205744
|
|
NM_000722.4(CACNA2D1):c.1058A>C (p.Asn353Thr)
|
|
|
NM_000722.4(CACNA2D1):c.1059C>G (p.Asn353Lys)
|
|
|
NM_000722.4(CACNA2D1):c.1144G>A (p.Val382Ile)
|
|
|
NM_000722.4(CACNA2D1):c.1187G>C (p.Arg396Thr)
|
|
|
NM_000722.4(CACNA2D1):c.118A>G (p.Met40Val)
|
|
|
NM_000722.4(CACNA2D1):c.1195A>G (p.Ile399Val)
|
|
|
NM_000722.4(CACNA2D1):c.1231T>C (p.Tyr411His)
|
|
|
NM_000722.4(CACNA2D1):c.1259G>A (p.Arg420Lys)
|
rs886039110
|
|
NM_000722.4(CACNA2D1):c.1300A>G (p.Met434Val)
|
|
|
NM_000722.4(CACNA2D1):c.130C>G (p.Leu44Val)
|
|
|
NM_000722.4(CACNA2D1):c.134T>C (p.Val45Ala)
|
|
|
NM_000722.4(CACNA2D1):c.1364A>G (p.Glu455Gly)
|
|
|
NM_000722.4(CACNA2D1):c.1427A>G (p.Lys476Arg)
|
|
|
NM_000722.4(CACNA2D1):c.1459G>T (p.Val487Leu)
|
|
|
NM_000722.4(CACNA2D1):c.1474G>C (p.Val492Leu)
|
|
|
NM_000722.4(CACNA2D1):c.1507C>T (p.Arg503Cys)
|
|
|
NM_000722.4(CACNA2D1):c.1508G>C (p.Arg503Pro)
|
|
|
NM_000722.4(CACNA2D1):c.1576A>G (p.Asn526Asp)
|
|
|
NM_000722.4(CACNA2D1):c.1726C>G (p.Gln576Glu)
|
|
|
NM_000722.4(CACNA2D1):c.1735-5T>C
|
|
|
NM_000722.4(CACNA2D1):c.173T>C (p.Val58Ala)
|
|
|
NM_000722.4(CACNA2D1):c.178A>G (p.Ile60Val)
|
|
|
NM_000722.4(CACNA2D1):c.1832A>G (p.Tyr611Cys)
|
|
|
NM_000722.4(CACNA2D1):c.1841C>T (p.Ala614Val)
|
|
|
NM_000722.4(CACNA2D1):c.1853A>G (p.Glu618Gly)
|
|
|
NM_000722.4(CACNA2D1):c.1873+1G>C
|
|
|
NM_000722.4(CACNA2D1):c.1879_1881del (p.Lys627del)
|
|
|
NM_000722.4(CACNA2D1):c.1882G>A (p.Gly628Ser)
|
|
|
NM_000722.4(CACNA2D1):c.1897T>C (p.Ser633Pro)
|
|
|
NM_000722.4(CACNA2D1):c.2017G>A (p.Glu673Lys)
|
|
|
NM_000722.4(CACNA2D1):c.2033A>G (p.Lys678Arg)
|
|
|
NM_000722.4(CACNA2D1):c.2133G>T (p.Gln711His)
|
|
|
NM_000722.4(CACNA2D1):c.2142C>G (p.Ile714Met)
|
rs745501384
|
|
NM_000722.4(CACNA2D1):c.214C>A (p.Pro72Thr)
|
|
|
NM_000722.4(CACNA2D1):c.215C>T (p.Pro72Leu)
|
|
|
NM_000722.4(CACNA2D1):c.2164G>A (p.Val722Ile)
|
|
|
NM_000722.4(CACNA2D1):c.2185A>G (p.Thr729Ala)
|
|
|
NM_000722.4(CACNA2D1):c.218A>G (p.Asn73Ser)
|
|
|
NM_000722.4(CACNA2D1):c.226C>T (p.Arg76Cys)
|
|
|
NM_000722.4(CACNA2D1):c.2275G>A (p.Asp759Asn)
|
|
|
NM_000722.4(CACNA2D1):c.2297C>G (p.Pro766Arg)
|
|
|
NM_000722.4(CACNA2D1):c.2318C>T (p.Pro773Leu)
|
rs772938422
|
|
NM_000722.4(CACNA2D1):c.2332T>G (p.Ser778Ala)
|
|
|
NM_000722.4(CACNA2D1):c.2503-5G>T
|
rs2130336971
|
|
NM_000722.4(CACNA2D1):c.2572C>T (p.Gln858Ter)
|
|
|
NM_000722.4(CACNA2D1):c.257T>C (p.Ile86Thr)
|
|
|
NM_000722.4(CACNA2D1):c.2642C>G (p.Ala881Gly)
|
|
|
NM_000722.4(CACNA2D1):c.2652A>C (p.Lys884Asn)
|
|
|
NM_000722.4(CACNA2D1):c.2686G>A (p.Ala896Thr)
|
|
|
NM_000722.4(CACNA2D1):c.2713C>T (p.Arg905Cys)
|
|
|
NM_000722.4(CACNA2D1):c.2714G>A (p.Arg905His)
|
|
|
NM_000722.4(CACNA2D1):c.2728C>A (p.Pro910Thr)
|
|
|
NM_000722.4(CACNA2D1):c.2738C>T (p.Ala913Val)
|
|
|
NM_000722.4(CACNA2D1):c.2740G>A (p.Asp914Asn)
|
rs377181609
|
|
NM_000722.4(CACNA2D1):c.2800C>T (p.Leu934Phe)
|
|
|
NM_000722.4(CACNA2D1):c.2857T>C (p.Phe953Leu)
|
|
|
NM_000722.4(CACNA2D1):c.2861C>G (p.Thr954Arg)
|
|
|
NM_000722.4(CACNA2D1):c.2891C>A (p.Thr964Asn)
|
|
|
NM_000722.4(CACNA2D1):c.2920G>A (p.Asp974Asn)
|
|
|
NM_000722.4(CACNA2D1):c.2923A>G (p.Ser975Gly)
|
|
|
NM_000722.4(CACNA2D1):c.295C>T (p.Arg99Cys)
|
|
|
NM_000722.4(CACNA2D1):c.2965A>C (p.Arg989=)
|
|
|
NM_000722.4(CACNA2D1):c.2967-3C>A
|
|
|
NM_000722.4(CACNA2D1):c.2992A>G (p.Asn998Asp)
|
|
|
NM_000722.4(CACNA2D1):c.3059T>C (p.Ile1020Thr)
|
|
|
NM_000722.4(CACNA2D1):c.3065C>T (p.Ala1022Val)
|
|
|
NM_000722.4(CACNA2D1):c.3077-4_3077-3del
|
rs773360358
|
|
NM_000722.4(CACNA2D1):c.3122G>A (p.Arg1041Gln)
|
|
|
NM_000722.4(CACNA2D1):c.3140_3157dup (p.Val1052_Leu1053insCysPheAspAsnAsnVal)
|
|
|
NM_000722.4(CACNA2D1):c.3170C>G (p.Thr1057Ser)
|
rs2129932628
|
|
NM_000722.4(CACNA2D1):c.3185T>G (p.Val1062Gly)
|
|
|
NM_000722.4(CACNA2D1):c.3211T>C (p.Tyr1071His)
|
rs2129931750
|
|
NM_000722.4(CACNA2D1):c.3235C>G (p.Leu1079Val)
|
rs780771206
|
|
NM_000722.4(CACNA2D1):c.3253G>A (p.Gly1085Ser)
|
|
|
NM_000722.4(CACNA2D1):c.3254G>A (p.Gly1085Asp)
|
|
|
NM_000722.4(CACNA2D1):c.3266G>A (p.Arg1089His)
|
rs143631985
|
|
NM_000722.4(CACNA2D1):c.3266G>T (p.Arg1089Leu)
|
rs143631985
|
|
NM_000722.4(CACNA2D1):c.3274T>C (p.Ter1092Arg)
|
|
|
NM_000722.4(CACNA2D1):c.35C>T (p.Thr12Ile)
|
|
|
NM_000722.4(CACNA2D1):c.362A>C (p.Glu121Ala)
|
|
|
NM_000722.4(CACNA2D1):c.397-4A>G
|
rs917105846
|
|
NM_000722.4(CACNA2D1):c.400G>A (p.Glu134Lys)
|
|
|
NM_000722.4(CACNA2D1):c.415G>C (p.Glu139Gln)
|
rs1554412653
|
|
NM_000722.4(CACNA2D1):c.449T>C (p.Ile150Thr)
|
|
|
NM_000722.4(CACNA2D1):c.469C>T (p.Arg157Ter)
|
|
|
NM_000722.4(CACNA2D1):c.475A>C (p.Ile159Leu)
|
|
|
NM_000722.4(CACNA2D1):c.482A>T (p.Tyr161Phe)
|
|
|
NM_000722.4(CACNA2D1):c.550A>G (p.Asn184Asp)
|
|
|
NM_000722.4(CACNA2D1):c.55A>G (p.Ile19Val)
|
|
|
NM_000722.4(CACNA2D1):c.585G>C (p.Lys195Asn)
|
rs1035408693
|
|
NM_000722.4(CACNA2D1):c.612G>T (p.Leu204Phe)
|
|
|
NM_000722.4(CACNA2D1):c.658+3A>G
|
|
|
NM_000722.4(CACNA2D1):c.659-5T>C
|
|
|
NM_000722.4(CACNA2D1):c.915G>C (p.Gln305His)
|
|
|
NM_000722.4(CACNA2D1):c.95+3A>G
|
|
|
NM_000784.4(CYP27A1):c.1013A>T (p.Asp338Val)
|
|
|
NM_000784.4(CYP27A1):c.1031T>A (p.Leu344Gln)
|
|
|
NM_000784.4(CYP27A1):c.1086C>A (p.His362Gln)
|
rs139426361
|
|
NM_000784.4(CYP27A1):c.1124C>T (p.Pro375Leu)
|
|
|
NM_000784.4(CYP27A1):c.1142C>T (p.Ala381Val)
|
|
|
NM_000784.4(CYP27A1):c.1237G>A (p.Val413Ile)
|
|
|
NM_000784.4(CYP27A1):c.1261A>G (p.Asn421Asp)
|
|
|
NM_000784.4(CYP27A1):c.1273G>C (p.Val425Leu)
|
|
|
NM_000784.4(CYP27A1):c.1282C>T (p.His428Tyr)
|
rs749202662
|
|
NM_000784.4(CYP27A1):c.1304C>T (p.Pro435Leu)
|
|
|
NM_000784.4(CYP27A1):c.1306A>G (p.Thr436Ala)
|
|
|
NM_000784.4(CYP27A1):c.130C>T (p.Pro44Ser)
|
rs923201483
|
|
NM_000784.4(CYP27A1):c.1432G>A (p.Gly478Ser)
|
|
|
NM_000784.4(CYP27A1):c.1456A>T (p.Met486Leu)
|
rs150585977
|
|
NM_000784.4(CYP27A1):c.1460A>G (p.Gln487Arg)
|
|
|
NM_000784.4(CYP27A1):c.1472C>A (p.Ala491Glu)
|
|
|
NM_000784.4(CYP27A1):c.1508C>T (p.Pro503Leu)
|
rs776752717
|
|
NM_000784.4(CYP27A1):c.1513A>G (p.Thr505Ala)
|
|
|
NM_000784.4(CYP27A1):c.1514C>A (p.Thr505Lys)
|
rs76822427
|
|
NM_000784.4(CYP27A1):c.151C>G (p.Arg51Gly)
|
|
|
NM_000784.4(CYP27A1):c.1547T>A (p.Leu516Gln)
|
|
|
NM_000784.4(CYP27A1):c.1567G>A (p.Gly523Ser)
|
|
|
NM_000784.4(CYP27A1):c.1567G>T (p.Gly523Cys)
|
|
|
NM_000784.4(CYP27A1):c.1589A>G (p.Gln530Arg)
|
rs911127639
|
|
NM_000784.4(CYP27A1):c.193C>G (p.Gln65Glu)
|
rs1553614310
|
|
NM_000784.4(CYP27A1):c.227G>C (p.Gly76Ala)
|
|
|
NM_000784.4(CYP27A1):c.238C>G (p.Gln80Glu)
|
|
|
NM_000784.4(CYP27A1):c.408C>G (p.His136Gln)
|
|
|
NM_000784.4(CYP27A1):c.421G>A (p.Asp141Asn)
|
|
|
NM_000784.4(CYP27A1):c.470T>C (p.Leu157Pro)
|
rs1270373689
|
|
NM_000784.4(CYP27A1):c.481C>G (p.Leu161Val)
|
rs759338714
|
|
NM_000784.4(CYP27A1):c.491G>A (p.Arg164Gln)
|
rs148417330
|
|
NM_000784.4(CYP27A1):c.559A>G (p.Thr187Ala)
|
|
|
NM_000784.4(CYP27A1):c.55G>A (p.Gly19Ser)
|
|
|
NM_000784.4(CYP27A1):c.599A>G (p.Asn200Ser)
|
|
|
NM_000784.4(CYP27A1):c.628T>C (p.Tyr210His)
|
|
|
NM_000784.4(CYP27A1):c.642G>T (p.Leu214Phe)
|
|
|
NM_000784.4(CYP27A1):c.67C>A (p.His23Asn)
|
|
|
NM_000784.4(CYP27A1):c.721G>T (p.Val241Phe)
|
|
|
NM_000784.4(CYP27A1):c.733G>C (p.Gly245Arg)
|
|
|
NM_000784.4(CYP27A1):c.842T>C (p.Phe281Ser)
|
|
|
NM_000784.4(CYP27A1):c.85G>A (p.Ala29Thr)
|
|
|
NM_000784.4(CYP27A1):c.976A>G (p.Met326Val)
|
|
|
NM_000784.4(CYP27A1):c.993G>C (p.Glu331Asp)
|
|
|
NM_000890.5(KCNJ5):c.1047C>G (p.Asn349Lys)
|
|
|
NM_000890.5(KCNJ5):c.1067A>C (p.Glu356Ala)
|
|
|
NM_000890.5(KCNJ5):c.1096G>C (p.Glu366Gln)
|
|
|
NM_000890.5(KCNJ5):c.110C>T (p.Thr37Ile)
|
|
|
NM_000890.5(KCNJ5):c.116G>A (p.Arg39His)
|
|
|
NM_000890.5(KCNJ5):c.1198C>A (p.Gln400Lys)
|
|
|
NM_000890.5(KCNJ5):c.1206AGA[1] (p.Glu403del)
|
|
|
NM_000890.5(KCNJ5):c.1227G>C (p.Leu409=)
|
|
|
NM_000890.5(KCNJ5):c.1248G>C (p.Arg416Ser)
|
rs930047035
|
|
NM_000890.5(KCNJ5):c.1253C>G (p.Ser418Trp)
|
|
|
NM_000890.5(KCNJ5):c.1253C>T (p.Ser418Leu)
|
|
|
NM_000890.5(KCNJ5):c.172G>A (p.Gly58Ser)
|
|
|
NM_000890.5(KCNJ5):c.184G>A (p.Val62Met)
|
rs1389808024
|
|
NM_000890.5(KCNJ5):c.18G>T (p.Arg6Ser)
|
|
|
NM_000890.5(KCNJ5):c.283A>T (p.Met95Leu)
|
|
|
NM_000890.5(KCNJ5):c.299C>A (p.Thr100Asn)
|
|
|
NM_000890.5(KCNJ5):c.331A>G (p.Ile111Val)
|
|
|
NM_000890.5(KCNJ5):c.342C>G (p.Ile114Met)
|
|
|
NM_000890.5(KCNJ5):c.365G>A (p.Gly122Asp)
|
|
|
NM_000890.5(KCNJ5):c.437C>A (p.Thr146Asn)
|
|
|
NM_000890.5(KCNJ5):c.483T>G (p.Cys161Trp)
|
|
|
NM_000890.5(KCNJ5):c.487G>A (p.Glu163Lys)
|
|
|
NM_000890.5(KCNJ5):c.546G>T (p.Met182Ile)
|
rs774980501
|
|
NM_000890.5(KCNJ5):c.554G>A (p.Cys185Tyr)
|
|
|
NM_000890.5(KCNJ5):c.558G>A (p.Met186Ile)
|
|
|
NM_000890.5(KCNJ5):c.56C>T (p.Pro19Leu)
|
|
|
NM_000890.5(KCNJ5):c.60_61del (p.Trp20_Asp21delinsTer)
|
rs1177055098
|
|
NM_000890.5(KCNJ5):c.615C>G (p.Asn205Lys)
|
|
|
NM_000890.5(KCNJ5):c.632G>T (p.Arg211Leu)
|
|
|
NM_000890.5(KCNJ5):c.637G>A (p.Glu213Lys)
|
|
|
NM_000890.5(KCNJ5):c.638A>G (p.Glu213Gly)
|
|
|
NM_000890.5(KCNJ5):c.659G>T (p.Arg220Leu)
|
rs775915273
|
|
NM_000890.5(KCNJ5):c.67A>G (p.Lys23Glu)
|
|
|
NM_000890.5(KCNJ5):c.68A>G (p.Lys23Arg)
|
|
|
NM_000890.5(KCNJ5):c.727C>T (p.Gln243Ter)
|
|
|
NM_000890.5(KCNJ5):c.750C>G (p.Ile250Met)
|
|
|
NM_000890.5(KCNJ5):c.775G>A (p.Val259Met)
|
|
|
NM_000890.5(KCNJ5):c.799C>T (p.Arg267Cys)
|
|
|
NM_000890.5(KCNJ5):c.811G>A (p.Val271Met)
|
|
|
NM_000890.5(KCNJ5):c.837G>C (p.Glu279Asp)
|
|
|
NM_000890.5(KCNJ5):c.844C>A (p.Gln282Lys)
|
|
|
NM_000890.5(KCNJ5):c.867G>A (p.Met289Ile)
|
|
|
NM_000890.5(KCNJ5):c.89G>A (p.Arg30His)
|
|
|
NM_000890.5(KCNJ5):c.905T>C (p.Val302Ala)
|
|
|
NM_000890.5(KCNJ5):c.937+4del
|
|
|
NM_000890.5(KCNJ5):c.949C>T (p.Gln317Ter)
|
|
|
NM_000890.5(KCNJ5):c.995G>A (p.Arg332Gln)
|
|
|
NM_000891.3(KCNJ2):c.-1G>A
|
|
|
NM_000891.3(KCNJ2):c.-1G>T
|
|
|
NM_000891.3(KCNJ2):c.1043A>G (p.Tyr348Cys)
|
rs2144377812
|
|
NM_000891.3(KCNJ2):c.1063C>T (p.Leu355Phe)
|
rs1411366891
|
|
NM_000891.3(KCNJ2):c.1142C>G (p.Ala381Gly)
|
|
|
NM_000891.3(KCNJ2):c.1147A>C (p.Thr383Pro)
|
|
|
NM_000891.3(KCNJ2):c.1221C>A (p.Asp407Glu)
|
|
|
NM_000891.3(KCNJ2):c.1264C>G (p.Arg422Gly)
|
|
|
NM_000891.3(KCNJ2):c.13C>T (p.Arg5Ter)
|
rs1042485
|
|
NM_000891.3(KCNJ2):c.171G>T (p.Gln57His)
|
|
|
NM_000891.3(KCNJ2):c.208G>A (p.Ala70Thr)
|
rs375605948
|
|
NM_000891.3(KCNJ2):c.21C>G (p.Asn7Lys)
|
|
|
NM_000891.3(KCNJ2):c.226T>C (p.Cys76Arg)
|
|
|
NM_000891.3(KCNJ2):c.235A>G (p.Ile79Val)
|
|
|
NM_000891.3(KCNJ2):c.2T>C (p.Met1Thr)
|
rs786205810
|
|
NM_000891.3(KCNJ2):c.365G>A (p.Cys122Tyr)
|
rs1555603931
|
|
NM_000891.3(KCNJ2):c.46G>C (p.Glu16Gln)
|
|
|
NM_000891.3(KCNJ2):c.494C>T (p.Ser165Leu)
|
|
|
NM_000891.3(KCNJ2):c.510C>G (p.Ile170Met)
|
rs1555603943
|
|
NM_000891.3(KCNJ2):c.786T>A (p.Phe262Leu)
|
|
|
NM_000891.3(KCNJ2):c.819A>G (p.Ile273Met)
|
|
|
NM_000891.3(KCNJ2):c.917C>T (p.Ala306Val)
|
|
|
NM_001005242.3(PKP2):c.-3C>A
|
|
|
NM_001005242.3(PKP2):c.-9_12dup (p.Pro4_Gly5insThrGlyProMetAlaAlaPro)
|
rs770443705
|
|
NM_001005242.3(PKP2):c.101C>G (p.Ser34Cys)
|
rs1957128054
|
|
NM_001005242.3(PKP2):c.1048G>A (p.Glu350Lys)
|
rs147264025
|
|
NM_001005242.3(PKP2):c.1123A>G (p.Thr375Ala)
|
|
|
NM_001005242.3(PKP2):c.1162C>G (p.Arg388Gly)
|
|
|
NM_001005242.3(PKP2):c.1170+4_1170+7del
|
rs397516988
|
|
NM_001005242.3(PKP2):c.1170+5G>A
|
rs794729105
|
|
NM_001005242.3(PKP2):c.1184G>C (p.Arg395Pro)
|
|
|
NM_001005242.3(PKP2):c.118C>G (p.Leu40Val)
|
rs1039022167
|
|
NM_001005242.3(PKP2):c.1294G>C (p.Glu432Gln)
|
rs1956689490
|
|
NM_001005242.3(PKP2):c.130_131delinsCC (p.Ser44Pro)
|
|
|
NM_001005242.3(PKP2):c.1358A>C (p.Glu453Ala)
|
|
|
NM_001005242.3(PKP2):c.1378+5T>C
|
rs767415624
|
|
NM_001005242.3(PKP2):c.1379-1994A>G
|
|
|
NM_001005242.3(PKP2):c.1379-1997G>C
|
|
|
NM_001005242.3(PKP2):c.1379-2042G>A
|
|
|
NM_001005242.3(PKP2):c.1379-2045_1379-1738del
|
rs2137836547
|
|
NM_001005242.3(PKP2):c.1379-2091A>T
|
|
|
NM_001005242.3(PKP2):c.1395G>C (p.Leu465Phe)
|
|
|
NM_001005242.3(PKP2):c.1415A>G (p.Lys472Arg)
|
rs749926313
|
|
NM_001005242.3(PKP2):c.1515G>T (p.Leu505Phe)
|
|
|
NM_001005242.3(PKP2):c.1523T>G (p.Phe508Cys)
|
|
|
NM_001005242.3(PKP2):c.1594A>T (p.Met532Leu)
|
rs1298544159
|
|
NM_001005242.3(PKP2):c.1609G>A (p.Gly537Arg)
|
|
|
NM_001005242.3(PKP2):c.1636G>A (p.Val546Ile)
|
rs1475361697
|
|
NM_001005242.3(PKP2):c.164G>T (p.Arg55Leu)
|
|
|
NM_001005242.3(PKP2):c.16G>A (p.Ala6Thr)
|
|
|
NM_001005242.3(PKP2):c.173A>G (p.Glu58Gly)
|
|
|
NM_001005242.3(PKP2):c.1744T>A (p.Tyr582Asn)
|
rs794729112
|
|
NM_001005242.3(PKP2):c.176A>G (p.Gln59Arg)
|
|
|
NM_001005242.3(PKP2):c.1788CAA[2] (p.Asn598del)
|
rs750084387
|
|
NM_001005242.3(PKP2):c.1795A>G (p.Lys599Glu)
|
|
|
NM_001005242.3(PKP2):c.1804G>A (p.Gly602Arg)
|
rs960192135
|
|
NM_001005242.3(PKP2):c.1893G>T (p.Glu631Asp)
|
rs879110663
|
|
NM_001005242.3(PKP2):c.1901G>T (p.Trp634Leu)
|
rs1555142907
|
|
NM_001005242.3(PKP2):c.1957T>G (p.Tyr653Asp)
|
|
|
NM_001005242.3(PKP2):c.1981G>A (p.Ala661Thr)
|
rs1199864691
|
|
NM_001005242.3(PKP2):c.1981G>C (p.Ala661Pro)
|
|
|
NM_001005242.3(PKP2):c.1982C>T (p.Ala661Val)
|
|
|
NM_001005242.3(PKP2):c.1997C>T (p.Thr666Met)
|
rs397517016
|
|
NM_001005242.3(PKP2):c.199A>G (p.Lys67Glu)
|
rs1555149950
|
|
NM_001005242.3(PKP2):c.2003G>A (p.Gly668Glu)
|
rs1348373466
|
|
NM_001005242.3(PKP2):c.2006G>A (p.Ser669Asn)
|
|
|
NM_001005242.3(PKP2):c.2017C>A (p.Pro673Thr)
|
|
|
NM_001005242.3(PKP2):c.2024C>T (p.Ser675Leu)
|
|
|
NM_001005242.3(PKP2):c.206G>T (p.Arg69Leu)
|
rs1388260138
|
|
NM_001005242.3(PKP2):c.2098A>G (p.Ser700Gly)
|
|
|
NM_001005242.3(PKP2):c.20C>A (p.Pro7Gln)
|
|
|
NM_001005242.3(PKP2):c.2123T>G (p.Leu708Arg)
|
|
|
NM_001005242.3(PKP2):c.2168-4G>C
|
rs376231586
|
|
NM_001005242.3(PKP2):c.2171A>G (p.Lys724Arg)
|
|
|
NM_001005242.3(PKP2):c.2203C>G (p.Pro735Ala)
|
|
|
NM_001005242.3(PKP2):c.2222C>T (p.Thr741Ile)
|
|
|
NM_001005242.3(PKP2):c.2234T>A (p.Ile745Asn)
|
rs543233804
|
|
NM_001005242.3(PKP2):c.224-3C>G
|
rs786204387
|
|
NM_001005242.3(PKP2):c.2248T>G (p.Ser750Ala)
|
rs1431341096
|
|
NM_001005242.3(PKP2):c.2287T>C (p.Tyr763His)
|
|
|
NM_001005242.3(PKP2):c.2299C>T (p.Arg767Cys)
|
rs139734328
|
|
NM_001005242.3(PKP2):c.230T>C (p.Leu77Pro)
|
rs754446972
|
|
NM_001005242.3(PKP2):c.2357+2dup
|
|
|
NM_001005242.3(PKP2):c.2357+5G>A
|
rs1555141020
|
|
NM_001005242.3(PKP2):c.2357C>A (p.Ala786Asp)
|
rs1057518582
|
|
NM_001005242.3(PKP2):c.2395C>G (p.Leu799Val)
|
|
|
NM_001005242.3(PKP2):c.2429A>T (p.His810Leu)
|
rs886039193
|
|
NM_001005242.3(PKP2):c.2485G>T (p.Ala829Ser)
|
rs1046323987
|
|
NM_001005242.3(PKP2):c.2499C>A (p.His833Gln)
|
rs202094467
|
|
NM_001005242.3(PKP2):c.253G>C (p.Glu85Gln)
|
|
|
NM_001005242.3(PKP2):c.263A>G (p.Tyr88Cys)
|
|
|
NM_001005242.3(PKP2):c.274T>G (p.Leu92Val)
|
rs773851296
|
|
NM_001005242.3(PKP2):c.292G>A (p.Val98Ile)
|
|
|
NM_001005242.3(PKP2):c.296G>A (p.Gly99Glu)
|
|
|
NM_001005242.3(PKP2):c.302G>T (p.Arg101Leu)
|
|
|
NM_001005242.3(PKP2):c.307C>G (p.Pro103Ala)
|
rs139215336
|
|
NM_001005242.3(PKP2):c.307C>T (p.Pro103Ser)
|
rs139215336
|
|
NM_001005242.3(PKP2):c.323A>G (p.Tyr108Cys)
|
|
|
NM_001005242.3(PKP2):c.32G>A (p.Gly11Asp)
|
|
|
NM_001005242.3(PKP2):c.337-4G>A
|
rs751175344
|
|
NM_001005242.3(PKP2):c.365G>T (p.Arg122Leu)
|
rs201306582
|
|
NM_001005242.3(PKP2):c.459C>G (p.Asp153Glu)
|
|
|
NM_001005242.3(PKP2):c.529A>G (p.Thr177Ala)
|
rs1956954122
|
|
NM_001005242.3(PKP2):c.533T>C (p.Leu178Pro)
|
|
|
NM_001005242.3(PKP2):c.549_551del (p.Ser183del)
|
rs1358236902
|
|
NM_001005242.3(PKP2):c.56A>C (p.Gln19Pro)
|
|
|
NM_001005242.3(PKP2):c.592G>A (p.Glu198Lys)
|
rs1040585677
|
|
NM_001005242.3(PKP2):c.613G>C (p.Ala205Pro)
|
|
|
NM_001005242.3(PKP2):c.625A>G (p.Ser209Gly)
|
|
|
NM_001005242.3(PKP2):c.629G>A (p.Arg210Lys)
|
rs1555148132
|
|
NM_001005242.3(PKP2):c.635G>T (p.Arg212Leu)
|
|
|
NM_001005242.3(PKP2):c.656G>A (p.Arg219Lys)
|
|
|
NM_001005242.3(PKP2):c.671G>T (p.Gly224Val)
|
|
|
NM_001005242.3(PKP2):c.743C>T (p.Thr248Ile)
|
|
|
NM_001005242.3(PKP2):c.749G>T (p.Arg250Leu)
|
rs369332786
|
|
NM_001005242.3(PKP2):c.755T>C (p.Met252Thr)
|
|
|
NM_001005242.3(PKP2):c.823G>A (p.Val275Met)
|
|
|
NM_001005242.3(PKP2):c.887A>C (p.His296Pro)
|
|
|
NM_001005242.3(PKP2):c.899C>T (p.Thr300Met)
|
rs553098424
|
|
NM_001005242.3(PKP2):c.916C>T (p.Pro306Ser)
|
rs1209340253
|
|
NM_001005242.3(PKP2):c.959C>T (p.Thr320Ile)
|
|
|
NM_001005242.3(PKP2):c.968_971inv (p.Gln323_Ala324delinsArgLeu)
|
|
|
NM_001005242.3(PKP2):c.969G>C (p.Gln323His)
|
rs879170191
|
|
NM_001005242.3(PKP2):c.974C>G (p.Ala325Gly)
|
|
|
NM_001005242.3(PKP2):c.980G>C (p.Gly327Ala)
|
rs759660796
|
|
NM_001005242.3(PKP2):c.980G>T (p.Gly327Val)
|
rs759660796
|
|
NM_001005242.3(PKP2):c.985A>G (p.Ser329Gly)
|
rs779173447
|
|
NM_001005242.3(PKP2):c.989G>A (p.Gly330Glu)
|
rs373041797
|
|
NM_001005242.3(PKP2):c.991A>G (p.Asn331Asp)
|
|
|
NM_001010874.5(TECRL):c.1004T>C (p.Leu335Ser)
|
|
|
NM_001010874.5(TECRL):c.1006T>A (p.Trp336Arg)
|
|
|
NM_001010874.5(TECRL):c.1009del (p.Ala337fs)
|
rs1461307621
|
|
NM_001010874.5(TECRL):c.1013A>C (p.Gln338Pro)
|
|
|
NM_001010874.5(TECRL):c.101A>G (p.His34Arg)
|
|
|
NM_001010874.5(TECRL):c.1027A>T (p.Ile343Phe)
|
|
|
NM_001010874.5(TECRL):c.1073T>A (p.Met358Lys)
|
|
|
NM_001010874.5(TECRL):c.118G>C (p.Val40Leu)
|
|
|
NM_001010874.5(TECRL):c.145A>G (p.Thr49Ala)
|
|
|
NM_001010874.5(TECRL):c.146C>T (p.Thr49Ile)
|
|
|
NM_001010874.5(TECRL):c.148C>T (p.Pro50Ser)
|
|
|
NM_001010874.5(TECRL):c.161A>G (p.His54Arg)
|
|
|
NM_001010874.5(TECRL):c.175C>T (p.His59Tyr)
|
|
|
NM_001010874.5(TECRL):c.179T>G (p.Phe60Cys)
|
|
|
NM_001010874.5(TECRL):c.182A>T (p.Glu61Val)
|
|
|
NM_001010874.5(TECRL):c.197A>G (p.Asp66Gly)
|
|
|
NM_001010874.5(TECRL):c.199G>A (p.Ala67Thr)
|
|
|
NM_001010874.5(TECRL):c.216G>T (p.Gln72His)
|
|
|
NM_001010874.5(TECRL):c.220T>C (p.Cys74Arg)
|
|
|
NM_001010874.5(TECRL):c.221G>A (p.Cys74Tyr)
|
|
|
NM_001010874.5(TECRL):c.229G>C (p.Asp77His)
|
|
|
NM_001010874.5(TECRL):c.22C>A (p.Leu8Ile)
|
|
|
NM_001010874.5(TECRL):c.236T>C (p.Val79Ala)
|
|
|
NM_001010874.5(TECRL):c.238A>G (p.Thr80Ala)
|
|
|
NM_001010874.5(TECRL):c.25G>A (p.Ala9Thr)
|
|
|
NM_001010874.5(TECRL):c.286+3A>G
|
|
|
NM_001010874.5(TECRL):c.286+5G>A
|
|
|
NM_001010874.5(TECRL):c.287-4A>G
|
|
|
NM_001010874.5(TECRL):c.287-5A>C
|
|
|
NM_001010874.5(TECRL):c.325G>A (p.Glu109Lys)
|
|
|
NM_001010874.5(TECRL):c.332-3T>C
|
|
|
NM_001010874.5(TECRL):c.334G>A (p.Gly112Arg)
|
|
|
NM_001010874.5(TECRL):c.338C>A (p.Pro113His)
|
|
|
NM_001010874.5(TECRL):c.353A>G (p.Tyr118Cys)
|
|
|
NM_001010874.5(TECRL):c.35G>T (p.Arg12Leu)
|
|
|
NM_001010874.5(TECRL):c.364C>G (p.Gln122Glu)
|
|
|
NM_001010874.5(TECRL):c.373G>A (p.Ala125Thr)
|
|
|
NM_001010874.5(TECRL):c.377C>G (p.Ala126Gly)
|
|
|
NM_001010874.5(TECRL):c.377C>T (p.Ala126Val)
|
|
|
NM_001010874.5(TECRL):c.403A>G (p.Thr135Ala)
|
|
|
NM_001010874.5(TECRL):c.410T>C (p.Leu137Pro)
|
|
|
NM_001010874.5(TECRL):c.422T>C (p.Val141Ala)
|
|
|
NM_001010874.5(TECRL):c.435+3_435+6del
|
|
|
NM_001010874.5(TECRL):c.43G>A (p.Ala15Thr)
|
|
|
NM_001010874.5(TECRL):c.452A>G (p.Tyr151Cys)
|
|
|
NM_001010874.5(TECRL):c.455C>T (p.Thr152Ile)
|
|
|
NM_001010874.5(TECRL):c.457G>C (p.Gly153Arg)
|
|
|
NM_001010874.5(TECRL):c.463C>G (p.Leu155Val)
|
|
|
NM_001010874.5(TECRL):c.523G>A (p.Ala175Thr)
|
|
|
NM_001010874.5(TECRL):c.551+4A>G
|
|
|
NM_001010874.5(TECRL):c.560G>T (p.Cys187Phe)
|
|
|
NM_001010874.5(TECRL):c.569A>G (p.His190Arg)
|
|
|
NM_001010874.5(TECRL):c.632A>C (p.His211Pro)
|
|
|
NM_001010874.5(TECRL):c.637C>T (p.Pro213Ser)
|
|
|
NM_001010874.5(TECRL):c.652A>G (p.Ile218Val)
|
|
|
NM_001010874.5(TECRL):c.658-5T>C
|
|
|
NM_001010874.5(TECRL):c.665C>T (p.Ala222Val)
|
|
|
NM_001010874.5(TECRL):c.686C>G (p.Ser229Cys)
|
|
|
NM_001010874.5(TECRL):c.700T>C (p.Tyr234His)
|
|
|
NM_001010874.5(TECRL):c.703A>G (p.Ile235Val)
|
|
|
NM_001010874.5(TECRL):c.708T>G (p.Asn236Lys)
|
|
|
NM_001010874.5(TECRL):c.709C>A (p.His237Asn)
|
|
|
NM_001010874.5(TECRL):c.70T>C (p.Phe24Leu)
|
|
|
NM_001010874.5(TECRL):c.774+4T>C
|
|
|
NM_001010874.5(TECRL):c.774G>C (p.Leu258=)
|
|
|
NM_001010874.5(TECRL):c.806T>C (p.Val269Ala)
|
|
|
NM_001010874.5(TECRL):c.819T>A (p.His273Gln)
|
|
|
NM_001010874.5(TECRL):c.824A>G (p.Asn275Ser)
|
|
|
NM_001010874.5(TECRL):c.830C>A (p.Thr277Lys)
|
|
|
NM_001010874.5(TECRL):c.832+3del
|
|
|
NM_001010874.5(TECRL):c.832G>A (p.Gly278Arg)
|
|
|
NM_001010874.5(TECRL):c.835A>G (p.Asn279Asp)
|
|
|
NM_001010874.5(TECRL):c.844T>G (p.Cys282Gly)
|
|
|
NM_001010874.5(TECRL):c.854G>A (p.Ser285Asn)
|
|
|
NM_001010874.5(TECRL):c.874A>T (p.Thr292Ser)
|
|
|
NM_001010874.5(TECRL):c.90G>A (p.Met30Ile)
|
|
|
NM_001010874.5(TECRL):c.90G>C (p.Met30Ile)
|
|
|
NM_001010874.5(TECRL):c.915T>G (p.Tyr305Ter)
|
|
|
NM_001010874.5(TECRL):c.920T>C (p.Ile307Thr)
|
|
|
NM_001010874.5(TECRL):c.928T>A (p.Trp310Arg)
|
|
|
NM_001010874.5(TECRL):c.956C>T (p.Thr319Ile)
|
|
|
NM_001010874.5(TECRL):c.985A>T (p.Met329Leu)
|
|
|
NM_001010874.5(TECRL):c.998T>A (p.Met333Lys)
|
|
|
NM_001018005.2(TPM1):c.115-3C>T
|
|
|
NM_001018005.2(TPM1):c.130G>A (p.Val44Met)
|
|
|
NM_001018005.2(TPM1):c.157A>T (p.Thr53Ser)
|
|
|
NM_001018005.2(TPM1):c.164A>G (p.Asp55Gly)
|
rs1566937759
|
|
NM_001018005.2(TPM1):c.187G>A (p.Ala63Thr)
|
rs1064796782
|
|
NM_001018005.2(TPM1):c.188C>T (p.Ala63Val)
|
rs199476306
|
|
NM_001018005.2(TPM1):c.196G>C (p.Asp66His)
|
rs2031866819
|
|
NM_001018005.2(TPM1):c.1A>G (p.Met1Val)
|
rs367543668
|
|
NM_001018005.2(TPM1):c.215A>G (p.Glu72Gly)
|
rs1358909905
|
|
NM_001018005.2(TPM1):c.238G>A (p.Asp80Asn)
|
|
|
NM_001018005.2(TPM1):c.23T>C (p.Met8Thr)
|
|
|
NM_001018005.2(TPM1):c.240+1G>A
|
rs730881146
|
|
NM_001018005.2(TPM1):c.240+3A>C
|
rs1555403436
|
|
NM_001018005.2(TPM1):c.242C>T (p.Ala81Val)
|
rs1596360642
|
|
NM_001018005.2(TPM1):c.25C>A (p.Gln9Lys)
|
rs730881149
|
|
NM_001018005.2(TPM1):c.267C>G (p.Asn89Lys)
|
rs1085307487
|
|
NM_001018005.2(TPM1):c.271C>T (p.Arg91Cys)
|
rs1266444831
|
|
NM_001018005.2(TPM1):c.275T>C (p.Ile92Thr)
|
rs199476310
|
|
NM_001018005.2(TPM1):c.280C>A (p.Leu94Met)
|
|
|
NM_001018005.2(TPM1):c.311A>G (p.Glu104Gly)
|
|
|
NM_001018005.2(TPM1):c.313C>T (p.Arg105Cys)
|
|
|
NM_001018005.2(TPM1):c.369T>A (p.Ser123Arg)
|
|
|
NM_001018005.2(TPM1):c.371A>G (p.Glu124Gly)
|
|
|
NM_001018005.2(TPM1):c.377G>C (p.Gly126Ala)
|
|
|
NM_001018005.2(TPM1):c.389T>C (p.Ile130Thr)
|
rs727503517
|
|
NM_001018005.2(TPM1):c.421A>G (p.Met141Val)
|
rs2035311298
|
|
NM_001018005.2(TPM1):c.425A>G (p.Glu142Gly)
|
|
|
NM_001018005.2(TPM1):c.470A>C (p.Asp157Ala)
|
|
|
NM_001018005.2(TPM1):c.499dup (p.Arg167fs)
|
rs1596377768
|
|
NM_001018005.2(TPM1):c.49A>C (p.Asn17His)
|
|
|
NM_001018005.2(TPM1):c.514A>T (p.Ile172Phe)
|
rs760374266
|
|
NM_001018005.2(TPM1):c.524A>G (p.Asp175Gly)
|
rs886039024
|
|
NM_001018005.2(TPM1):c.568T>C (p.Cys190Arg)
|
rs730881139
|
|
NM_001018005.2(TPM1):c.568T>G (p.Cys190Gly)
|
|
|
NM_001018005.2(TPM1):c.575A>G (p.Glu192Gly)
|
|
|
NM_001018005.2(TPM1):c.57G>T (p.Leu19Phe)
|
|
|
NM_001018005.2(TPM1):c.583G>A (p.Glu195Lys)
|
rs1555409508
|
|
NM_001018005.2(TPM1):c.592A>G (p.Lys198Glu)
|
rs730881140
|
|
NM_001018005.2(TPM1):c.602C>T (p.Thr201Met)
|
rs730881141
|
|
NM_001018005.2(TPM1):c.609C>G (p.Asn203Lys)
|
rs397516486
|
|
NM_001018005.2(TPM1):c.639G>C (p.Lys213Asn)
|
|
|
NM_001018005.2(TPM1):c.655G>A (p.Asp219Asn)
|
rs727503518
|
|
NM_001018005.2(TPM1):c.723T>G (p.Phe241Leu)
|
|
|
NM_001018005.2(TPM1):c.729G>C (p.Glu243Asp)
|
|
|
NM_001018005.2(TPM1):c.752A>C (p.Lys251Thr)
|
|
|
NM_001018005.2(TPM1):c.755G>A (p.Ser252Asn)
|
|
|
NM_001018005.2(TPM1):c.803A>G (p.Lys268Arg)
|
|
|
NM_001018005.2(TPM1):c.851T>C (p.Ile284Thr)
|
rs745520822
|
|
NM_001018005.2(TPM1):c.852A>T (p.Ile284=)
|
rs759481997
|
|
NM_001018005.2(TPM1):c.94G>T (p.Ala32Ser)
|
rs2140596321
|
|
NM_001035.3(RYR2):c.10035G>C (p.Arg3345Ser)
|
rs754976419
|
|
NM_001035.3(RYR2):c.10040dup (p.Asp3347fs)
|
|
|
NM_001035.3(RYR2):c.10043T>G (p.Met3348Arg)
|
rs794728767
|
|
NM_001035.3(RYR2):c.10046C>T (p.Ser3349Leu)
|
rs786205455
|
|
NM_001035.3(RYR2):c.1004A>G (p.Lys335Arg)
|
|
|
NM_001035.3(RYR2):c.10067T>A (p.Leu3356Gln)
|
|
|
NM_001035.3(RYR2):c.10139A>G (p.Asn3380Ser)
|
|
|
NM_001035.3(RYR2):c.10174_10175delinsAG (p.Ala3392Arg)
|
|
|
NM_001035.3(RYR2):c.10190G>T (p.Arg3397Leu)
|
rs753630324
|
|
NM_001035.3(RYR2):c.10204G>A (p.Val3402Met)
|
|
|
NM_001035.3(RYR2):c.10265A>G (p.Gln3422Arg)
|
|
|
NM_001035.3(RYR2):c.10324-3T>C
|
|
|
NM_001035.3(RYR2):c.10336G>A (p.Asp3446Asn)
|
|
|
NM_001035.3(RYR2):c.103C>G (p.Leu35Val)
|
rs1689577425
|
|
NM_001035.3(RYR2):c.10402G>A (p.Ala3468Thr)
|
|
|
NM_001035.3(RYR2):c.10439T>C (p.Ile3480Thr)
|
|
|
NM_001035.3(RYR2):c.10501_10503delinsGCT (p.Thr3501Ala)
|
rs2149105212
|
|
NM_001035.3(RYR2):c.10508A>G (p.Asp3503Gly)
|
|
|
NM_001035.3(RYR2):c.10528C>A (p.Arg3510Ser)
|
rs201749277
|
|
NM_001035.3(RYR2):c.10528C>T (p.Arg3510Cys)
|
rs201749277
|
|
NM_001035.3(RYR2):c.10555-3C>A
|
|
|
NM_001035.3(RYR2):c.10555-3C>T
|
rs1202806553
|
|
NM_001035.3(RYR2):c.10631C>T (p.Pro3544Leu)
|
rs752032924
|
|
NM_001035.3(RYR2):c.10647A>T (p.Glu3549Asp)
|
|
|
NM_001035.3(RYR2):c.10648A>G (p.Arg3550Gly)
|
rs1553300589
|
|
NM_001035.3(RYR2):c.10663G>T (p.Ala3555Ser)
|
|
|
NM_001035.3(RYR2):c.10711A>T (p.Arg3571Ter)
|
|
|
NM_001035.3(RYR2):c.10712G>A (p.Arg3571Lys)
|
|
|
NM_001035.3(RYR2):c.10762C>T (p.His3588Tyr)
|
|
|
NM_001035.3(RYR2):c.10838+3C>T
|
rs1417807379
|
|
NM_001035.3(RYR2):c.10886T>C (p.Ile3629Thr)
|
|
|
NM_001035.3(RYR2):c.10934C>T (p.Ala3645Val)
|
|
|
NM_001035.3(RYR2):c.10952C>T (p.Pro3651Leu)
|
|
|
NM_001035.3(RYR2):c.10963G>C (p.Asp3655His)
|
|
|
NM_001035.3(RYR2):c.10975A>T (p.Lys3659Ter)
|
|
|
NM_001035.3(RYR2):c.10980A>C (p.Arg3660Ser)
|
|
|
NM_001035.3(RYR2):c.10993C>T (p.His3665Tyr)
|
rs1374577335
|
|
NM_001035.3(RYR2):c.10999C>G (p.Leu3667Val)
|
|
|
NM_001035.3(RYR2):c.11150A>G (p.Lys3717Arg)
|
rs1060500141
|
|
NM_001035.3(RYR2):c.11152G>A (p.Glu3718Lys)
|
rs886039201
|
|
NM_001035.3(RYR2):c.11217G>A (p.Met3739Ile)
|
rs397516502
|
|
NM_001035.3(RYR2):c.1121A>G (p.Tyr374Cys)
|
|
|
NM_001035.3(RYR2):c.11226_11229del (p.Thr3743fs)
|
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|
NM_001035.3(RYR2):c.11293A>G (p.Ile3765Val)
|
rs767346230
|
|
NM_001035.3(RYR2):c.112G>A (p.Ala38Thr)
|
rs747977592
|
|
NM_001035.3(RYR2):c.11331G>A (p.Met3777Ile)
|
|
|
NM_001035.3(RYR2):c.11399G>T (p.Cys3800Phe)
|
rs1239093704
|
|
NM_001035.3(RYR2):c.11429G>A (p.Arg3810Gln)
|
|
|
NM_001035.3(RYR2):c.11509T>A (p.Cys3837Ser)
|
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|
NM_001035.3(RYR2):c.11522G>A (p.Arg3841Gln)
|
rs1553317322
|
|
NM_001035.3(RYR2):c.11557+3T>C
|
|
|
NM_001035.3(RYR2):c.11587G>A (p.Gly3863Ser)
|
rs886039194
|
|
NM_001035.3(RYR2):c.11605A>G (p.Asn3869Asp)
|
rs886039074
|
|
NM_001035.3(RYR2):c.1166G>C (p.Arg389Pro)
|
rs200685968
|
|
NM_001035.3(RYR2):c.1171-5T>G
|
|
|
NM_001035.3(RYR2):c.11765A>G (p.Glu3922Gly)
|
|
|
NM_001035.3(RYR2):c.11776-5T>C
|
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|
NM_001035.3(RYR2):c.11782T>C (p.Cys3928Arg)
|
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|
NM_001035.3(RYR2):c.11868G>T (p.Met3956Ile)
|
|
|
NM_001035.3(RYR2):c.11880+3_11880+6del
|
rs1694864201
|
|
NM_001035.3(RYR2):c.11908G>A (p.Glu3970Lys)
|
|
|
NM_001035.3(RYR2):c.11919T>G (p.Asp3973Glu)
|
rs370103782
|
|
NM_001035.3(RYR2):c.1193A>C (p.His398Pro)
|
|
|
NM_001035.3(RYR2):c.11965A>C (p.Asn3989His)
|
rs794728779
|
|
NM_001035.3(RYR2):c.11G>T (p.Gly4Val)
|
rs866878858
|
|
NM_001035.3(RYR2):c.12019T>G (p.Ser4007Ala)
|
|
|
NM_001035.3(RYR2):c.12056T>C (p.Met4019Thr)
|
rs886039150
|
|
NM_001035.3(RYR2):c.12134A>G (p.Lys4045Arg)
|
|
|
NM_001035.3(RYR2):c.12170A>T (p.His4057Leu)
|
|
|
NM_001035.3(RYR2):c.12180G>C (p.Gln4060His)
|
|
|
NM_001035.3(RYR2):c.121G>A (p.Gly41Arg)
|
|
|
NM_001035.3(RYR2):c.12209C>T (p.Ala4070Val)
|
|
|
NM_001035.3(RYR2):c.12278A>G (p.Asp4093Gly)
|
rs2149353168
|
|
NM_001035.3(RYR2):c.12325A>C (p.Met4109Leu)
|
rs730880196
|
|
NM_001035.3(RYR2):c.12369G>T (p.Glu4123Asp)
|
rs759484925
|
|
NM_001035.3(RYR2):c.12415A>G (p.Met4139Val)
|
rs1199657338
|
|
NM_001035.3(RYR2):c.12437A>G (p.Glu4146Gly)
|
rs1553322833
|
|
NM_001035.3(RYR2):c.1250G>T (p.Arg417Leu)
|
rs751428303
|
|
NM_001035.3(RYR2):c.12526G>A (p.Val4176Met)
|
rs794728828
|
|
NM_001035.3(RYR2):c.12535G>A (p.Glu4179Lys)
|
rs867488053
|
|
NM_001035.3(RYR2):c.12565T>C (p.Phe4189Leu)
|
|
|
NM_001035.3(RYR2):c.12626C>T (p.Ser4209Leu)
|
|
|
NM_001035.3(RYR2):c.12647C>A (p.Ala4216Glu)
|
|
|
NM_001035.3(RYR2):c.1264A>G (p.Thr422Ala)
|
rs1350054663
|
|
NM_001035.3(RYR2):c.12667_12669del (p.Lys4223del)
|
rs794728838
|
|
NM_001035.3(RYR2):c.12685C>T (p.Gln4229Ter)
|
rs1553323067
|
|
NM_001035.3(RYR2):c.12697A>G (p.Met4233Val)
|
rs2149354852
|
|
NM_001035.3(RYR2):c.12874A>C (p.Met4292Leu)
|
|
|
NM_001035.3(RYR2):c.12898_12909del (p.Ser4300_Arg4303del)
|
|
|
NM_001035.3(RYR2):c.12956T>A (p.Val4319Asp)
|
|
|
NM_001035.3(RYR2):c.12980T>C (p.Val4327Ala)
|
|
|
NM_001035.3(RYR2):c.13012A>G (p.Thr4338Ala)
|
|
|
NM_001035.3(RYR2):c.13035T>A (p.Asp4345Glu)
|
|
|
NM_001035.3(RYR2):c.13040AGG[1] (p.Glu4348del)
|
|
|
NM_001035.3(RYR2):c.13081G>C (p.Glu4361Gln)
|
|
|
NM_001035.3(RYR2):c.13207A>G (p.Ser4403Gly)
|
|
|
NM_001035.3(RYR2):c.13229T>C (p.Val4410Ala)
|
rs748604898
|
|
NM_001035.3(RYR2):c.13261-4C>A
|
|
|
NM_001035.3(RYR2):c.13280A>T (p.Glu4427Val)
|
|
|
NM_001035.3(RYR2):c.13284_13286dup (p.Lys4429_Glu4430insLys)
|
|
|
NM_001035.3(RYR2):c.13295_13303del (p.4429KEE[1])
|
|
|
NM_001035.3(RYR2):c.13297GAA[1] (p.Glu4434del)
|
|
|
NM_001035.3(RYR2):c.13327G>T (p.Glu4443Ter)
|
|
|
NM_001035.3(RYR2):c.13328+4T>C
|
rs1356215434
|
|
NM_001035.3(RYR2):c.1336G>T (p.Asp446Tyr)
|
|
|
NM_001035.3(RYR2):c.13426C>T (p.Pro4476Ser)
|
rs1277251368
|
|
NM_001035.3(RYR2):c.13573TCT[1] (p.Ser4526del)
|
rs749495172
|
|
NM_001035.3(RYR2):c.13597C>T (p.Leu4533Phe)
|
|
|
NM_001035.3(RYR2):c.13603A>G (p.Thr4535Ala)
|
|
|
NM_001035.3(RYR2):c.13617T>G (p.Ser4539Arg)
|
rs1553327067
|
|
NM_001035.3(RYR2):c.13625C>G (p.Ala4542Gly)
|
|
|
NM_001035.3(RYR2):c.13637G>A (p.Ser4546Asn)
|
|
|
NM_001035.3(RYR2):c.13651T>A (p.Ser4551Thr)
|
|
|
NM_001035.3(RYR2):c.13666G>C (p.Ala4556Pro)
|
rs189345192
|
|
NM_001035.3(RYR2):c.13763T>C (p.Ile4588Thr)
|
rs876661386
|
|
NM_001035.3(RYR2):c.13808A>C (p.Glu4603Ala)
|
|
|
NM_001035.3(RYR2):c.13822C>T (p.Arg4608Trp)
|
rs794728799
|
|
NM_001035.3(RYR2):c.13858C>T (p.Gln4620Ter)
|
rs1359207411
|
|
NM_001035.3(RYR2):c.13873G>T (p.Asp4625Tyr)
|
|
|
NM_001035.3(RYR2):c.1388T>A (p.Phe463Tyr)
|
|
|
NM_001035.3(RYR2):c.13897C>G (p.Leu4633Val)
|
rs1484013155
|
|
NM_001035.3(RYR2):c.13924A>G (p.Asn4642Asp)
|
rs865812612
|
|
NM_001035.3(RYR2):c.13957G>A (p.Val4653Ile)
|
|
|
NM_001035.3(RYR2):c.1397C>G (p.Pro466Arg)
|
rs967199869
|
|
NM_001035.3(RYR2):c.13G>T (p.Gly5Cys)
|
rs2148061465
|
|
NM_001035.3(RYR2):c.14008C>G (p.Leu4670Val)
|
|
|
NM_001035.3(RYR2):c.14014A>G (p.Met4672Val)
|
rs1423265074
|
|
NM_001035.3(RYR2):c.14062C>G (p.Pro4688Ala)
|
rs1659493419
|
|
NM_001035.3(RYR2):c.14083T>C (p.Ser4695Pro)
|
|
|
NM_001035.3(RYR2):c.14090T>C (p.Val4697Ala)
|
|
|
NM_001035.3(RYR2):c.14121G>A (p.Met4707Ile)
|
rs1660018312
|
|
NM_001035.3(RYR2):c.14136C>A (p.Val4712=)
|
rs756435572
|
|
NM_001035.3(RYR2):c.14182A>G (p.Met4728Val)
|
rs562116040
|
|
NM_001035.3(RYR2):c.14192T>C (p.Leu4731Pro)
|
|
|
NM_001035.3(RYR2):c.14201A>G (p.Tyr4734Cys)
|
rs1660616083
|
|
NM_001035.3(RYR2):c.14219C>G (p.Ala4740Gly)
|
|
|
NM_001035.3(RYR2):c.14246G>T (p.Gly4749Val)
|
rs1558457775
|
|
NM_001035.3(RYR2):c.14393A>G (p.Asp4798Gly)
|
|
|
NM_001035.3(RYR2):c.1452T>A (p.Asn484Lys)
|
rs1195833247
|
|
NM_001035.3(RYR2):c.1453C>T (p.Arg485Trp)
|
rs766420655
|
|
NM_001035.3(RYR2):c.14591G>C (p.Gly4864Ala)
|
|
|
NM_001035.3(RYR2):c.14637A>C (p.Gln4879His)
|
rs1553341953
|
|
NM_001035.3(RYR2):c.14643AGA[1] (p.Glu4882del)
|
|
|
NM_001035.3(RYR2):c.14666T>G (p.Phe4889Cys)
|
|
|
NM_001035.3(RYR2):c.14711G>A (p.Gly4904Asp)
|
rs886038888
|
|
NM_001035.3(RYR2):c.14718A>C (p.Glu4906Asp)
|
rs1553342497
|
|
NM_001035.3(RYR2):c.14756+3G>A
|
rs1057523295
|
|
NM_001035.3(RYR2):c.14777T>C (p.Ile4926Thr)
|
rs1663793007
|
|
NM_001035.3(RYR2):c.14803G>A (p.Gly4935Arg)
|
|
|
NM_001035.3(RYR2):c.14848G>C (p.Glu4950Gln)
|
rs886039172
|
|
NM_001035.3(RYR2):c.14885dup (p.Tyr4962Ter)
|
|
|
NM_001035.3(RYR2):c.14G>A (p.Gly5Asp)
|
rs1660034518
|
|
NM_001035.3(RYR2):c.1517A>C (p.His506Pro)
|
|
|
NM_001035.3(RYR2):c.1559G>T (p.Arg520Leu)
|
rs564957172
|
|
NM_001035.3(RYR2):c.1641C>A (p.Asn547Lys)
|
rs794728722
|
|
NM_001035.3(RYR2):c.175C>T (p.Pro59Ser)
|
rs1553405121
|
|
NM_001035.3(RYR2):c.1772A>T (p.Glu591Val)
|
|
|
NM_001035.3(RYR2):c.1792A>G (p.Ile598Val)
|
|
|
NM_001035.3(RYR2):c.184C>T (p.Leu62Phe)
|
rs794728813
|
|
NM_001035.3(RYR2):c.1888C>A (p.His630Asn)
|
rs1195734687
|
|
NM_001035.3(RYR2):c.1923C>G (p.Asp641Glu)
|
|
|
NM_001035.3(RYR2):c.19G>A (p.Gly7Ser)
|
rs779910353
|
|
NM_001035.3(RYR2):c.2042A>G (p.His681Arg)
|
rs1344581490
|
|
NM_001035.3(RYR2):c.2080C>G (p.Arg694Gly)
|
|
|
NM_001035.3(RYR2):c.2083G>C (p.Val695Leu)
|
|
|
NM_001035.3(RYR2):c.2203+5G>A
|
rs766288440
|
|
NM_001035.3(RYR2):c.2203+5G>T
|
|
|
NM_001035.3(RYR2):c.2203G>C (p.Gly735Arg)
|
rs1442111387
|
|
NM_001035.3(RYR2):c.220T>C (p.Ser74Pro)
|
|
|
NM_001035.3(RYR2):c.2225G>C (p.Ser742Thr)
|
|
|
NM_001035.3(RYR2):c.2293A>C (p.Ser765Arg)
|
rs748603282
|
|
NM_001035.3(RYR2):c.2302T>C (p.Phe768Leu)
|
rs751507066
|
|
NM_001035.3(RYR2):c.2308A>G (p.Ile770Val)
|
|
|
NM_001035.3(RYR2):c.2401C>T (p.Arg801Cys)
|
rs940667860
|
|
NM_001035.3(RYR2):c.261G>T (p.Glu87Asp)
|
|
|
NM_001035.3(RYR2):c.2716C>G (p.Pro906Ala)
|
rs754520058
|
|
NM_001035.3(RYR2):c.279T>A (p.Val93=)
|
rs1037732490
|
|
NM_001035.3(RYR2):c.2915T>C (p.Leu972Pro)
|
|
|
NM_001035.3(RYR2):c.2923G>A (p.Gly975Arg)
|
|
|
NM_001035.3(RYR2):c.295-5T>C
|
rs1553420541
|
|
NM_001035.3(RYR2):c.2951G>C (p.Ser984Thr)
|
|
|
NM_001035.3(RYR2):c.2972_2973inv (p.Ser991Leu)
|
|
|
NM_001035.3(RYR2):c.29A>C (p.Glu10Ala)
|
rs1027423344
|
|
NM_001035.3(RYR2):c.3031C>T (p.Arg1011Ter)
|
|
|
NM_001035.3(RYR2):c.3036C>G (p.Ile1012Met)
|
|
|
NM_001035.3(RYR2):c.304A>G (p.Met102Val)
|
|
|
NM_001035.3(RYR2):c.3058A>G (p.Ile1020Val)
|
|
|
NM_001035.3(RYR2):c.3064del (p.Gln1022fs)
|
|
|
NM_001035.3(RYR2):c.3065A>G (p.Gln1022Arg)
|
rs761384379
|
|
NM_001035.3(RYR2):c.309+5G>T
|
rs794728695
|
|
NM_001035.3(RYR2):c.3137A>G (p.Asn1046Ser)
|
|
|
NM_001035.3(RYR2):c.3182G>C (p.Gly1061Ala)
|
rs373083911
|
|
NM_001035.3(RYR2):c.3230T>G (p.Val1077Gly)
|
|
|
NM_001035.3(RYR2):c.3257G>A (p.Arg1086Gln)
|
rs749566870
|
|
NM_001035.3(RYR2):c.3293C>T (p.Ala1098Val)
|
rs1318943750
|
|
NM_001035.3(RYR2):c.32T>C (p.Ile11Thr)
|
rs794728760
|
|
NM_001035.3(RYR2):c.332G>A (p.Arg111Gln)
|
|
|
NM_001035.3(RYR2):c.3361G>A (p.Gly1121Ser)
|
|
|
NM_001035.3(RYR2):c.3371C>T (p.Pro1124Leu)
|
rs779640835
|
|
NM_001035.3(RYR2):c.3398G>A (p.Arg1133His)
|
rs374397612
|
|
NM_001035.3(RYR2):c.3495G>T (p.Met1165Ile)
|
|
|
NM_001035.3(RYR2):c.3497T>C (p.Val1166Ala)
|
|
|
NM_001035.3(RYR2):c.3508G>A (p.Glu1170Lys)
|
rs772236215
|
|
NM_001035.3(RYR2):c.3522G>A (p.Met1174Ile)
|
|
|
NM_001035.3(RYR2):c.356T>C (p.Ile119Thr)
|
rs1700481043
|
|
NM_001035.3(RYR2):c.3586G>T (p.Asp1196Tyr)
|
|
|
NM_001035.3(RYR2):c.3599-3C>T
|
|
|
NM_001035.3(RYR2):c.3721G>C (p.Val1241Leu)
|
|
|
NM_001035.3(RYR2):c.3760A>G (p.Arg1254Gly)
|
rs748217122
|
|
NM_001035.3(RYR2):c.3761G>A (p.Arg1254Lys)
|
|
|
NM_001035.3(RYR2):c.37T>C (p.Phe13Leu)
|
rs794728761
|
|
NM_001035.3(RYR2):c.3807+4T>A
|
rs1572996258
|
|
NM_001035.3(RYR2):c.3808-5G>C
|
rs776405427
|
|
NM_001035.3(RYR2):c.383T>C (p.Met128Thr)
|
rs886038887
|
|
NM_001035.3(RYR2):c.3842C>A (p.Pro1281Gln)
|
|
|
NM_001035.3(RYR2):c.3946A>G (p.Lys1316Glu)
|
rs1675067457
|
|
NM_001035.3(RYR2):c.3949A>G (p.Thr1317Ala)
|
rs1553514981
|
|
NM_001035.3(RYR2):c.3950C>G (p.Thr1317Arg)
|
|
|
NM_001035.3(RYR2):c.3965T>C (p.Leu1322Pro)
|
|
|
NM_001035.3(RYR2):c.4000T>G (p.Leu1334Val)
|
|
|
NM_001035.3(RYR2):c.4073G>A (p.Arg1358His)
|
rs1675084862
|
|
NM_001035.3(RYR2):c.4160+4A>T
|
|
|
NM_001035.3(RYR2):c.4219G>A (p.Glu1407Lys)
|
rs1420999217
|
|
NM_001035.3(RYR2):c.4295T>A (p.Ile1432Asn)
|
|
|
NM_001035.3(RYR2):c.4352A>T (p.His1451Leu)
|
rs1675471793
|
|
NM_001035.3(RYR2):c.4361A>G (p.Asp1454Gly)
|
rs752212017
|
|
NM_001035.3(RYR2):c.4381A>G (p.Arg1461Gly)
|
|
|
NM_001035.3(RYR2):c.4459A>G (p.Met1487Val)
|
rs1278512393
|
|
NM_001035.3(RYR2):c.4463T>C (p.Val1488Ala)
|
|
|
NM_001035.3(RYR2):c.4519A>G (p.Ile1507Val)
|
|
|
NM_001035.3(RYR2):c.4596+5G>A
|
rs1453761148
|
|
NM_001035.3(RYR2):c.4597G>A (p.Val1533Met)
|
|
|
NM_001035.3(RYR2):c.4625C>T (p.Ala1542Val)
|
|
|
NM_001035.3(RYR2):c.4672G>A (p.Gly1558Arg)
|
|
|
NM_001035.3(RYR2):c.4702G>A (p.Ala1568Thr)
|
|
|
NM_001035.3(RYR2):c.4703C>T (p.Ala1568Val)
|
rs955021407
|
|
NM_001035.3(RYR2):c.4733C>T (p.Pro1578Leu)
|
|
|
NM_001035.3(RYR2):c.4799C>T (p.Pro1600Leu)
|
rs759952370
|
|
NM_001035.3(RYR2):c.4851G>T (p.Trp1617Cys)
|
|
|
NM_001035.3(RYR2):c.485_489dup (p.Pro164fs)
|
rs1553426652
|
|
NM_001035.3(RYR2):c.4867G>C (p.Asp1623His)
|
|
|
NM_001035.3(RYR2):c.4886C>T (p.Ser1629Phe)
|
|
|
NM_001035.3(RYR2):c.4912T>A (p.Ser1638Thr)
|
rs794728739
|
|
NM_001035.3(RYR2):c.4990G>T (p.Val1664Phe)
|
rs749434532
|
|
NM_001035.3(RYR2):c.5011C>G (p.Arg1671Gly)
|
|
|
NM_001035.3(RYR2):c.5047C>G (p.Pro1683Ala)
|
|
|
NM_001035.3(RYR2):c.5091G>T (p.Leu1697Phe)
|
|
|
NM_001035.3(RYR2):c.5154G>C (p.Arg1718Ser)
|
rs114534505
|
|
NM_001035.3(RYR2):c.5168A>G (p.Asn1723Ser)
|
rs2148594785
|
|
NM_001035.3(RYR2):c.5171A>T (p.Glu1724Val)
|
|
|
NM_001035.3(RYR2):c.5218C>T (p.Pro1740Ser)
|
|
|
NM_001035.3(RYR2):c.5279G>C (p.Arg1760Pro)
|
rs765106198
|
|
NM_001035.3(RYR2):c.5285A>G (p.Gln1762Arg)
|
|
|
NM_001035.3(RYR2):c.5291C>T (p.Ser1764Phe)
|
rs1678236675
|
|
NM_001035.3(RYR2):c.5335A>C (p.Ser1779Arg)
|
|
|
NM_001035.3(RYR2):c.5414A>G (p.His1805Arg)
|
rs759774382
|
|
NM_001035.3(RYR2):c.5417C>T (p.Ala1806Val)
|
rs1415713582
|
|
NM_001035.3(RYR2):c.5440A>G (p.Thr1814Ala)
|
|
|
NM_001035.3(RYR2):c.5524A>T (p.Ile1842Phe)
|
rs1553522483
|
|
NM_001035.3(RYR2):c.5569C>A (p.Pro1857Thr)
|
|
|
NM_001035.3(RYR2):c.5653G>C (p.Gly1885Arg)
|
rs200197527
|
|
NM_001035.3(RYR2):c.5653G>T (p.Gly1885Trp)
|
rs200197527
|
|
NM_001035.3(RYR2):c.5654G>C (p.Gly1885Ala)
|
rs41315858
|
|
NM_001035.3(RYR2):c.5660A>T (p.Lys1887Met)
|
|
|
NM_001035.3(RYR2):c.5663G>A (p.Arg1888Gln)
|
rs869025511
|
|
NM_001035.3(RYR2):c.5675G>A (p.Gly1892Asp)
|
|
|
NM_001035.3(RYR2):c.5716-5C>G
|
|
|
NM_001035.3(RYR2):c.5776G>A (p.Val1926Ile)
|
|
|
NM_001035.3(RYR2):c.577C>T (p.His193Tyr)
|
|
|
NM_001035.3(RYR2):c.5806C>A (p.Leu1936Ile)
|
rs2148613988
|
|
NM_001035.3(RYR2):c.5811A>T (p.Gln1937His)
|
|
|
NM_001035.3(RYR2):c.5895T>G (p.Phe1965Leu)
|
|
|
NM_001035.3(RYR2):c.5945_5950del (p.Asp1982_Ser1984delinsGly)
|
|
|
NM_001035.3(RYR2):c.598A>G (p.Ser200Gly)
|
|
|
NM_001035.3(RYR2):c.6031C>G (p.Leu2011Val)
|
rs751426174
|
|
NM_001035.3(RYR2):c.6077G>C (p.Arg2026Thr)
|
|
|
NM_001035.3(RYR2):c.6134A>G (p.Glu2045Gly)
|
rs878854160
|
|
NM_001035.3(RYR2):c.6150T>G (p.Ser2050Arg)
|
rs371310419
|
|
NM_001035.3(RYR2):c.6166T>C (p.Ser2056Pro)
|
|
|
NM_001035.3(RYR2):c.6167-1G>A
|
|
|
NM_001035.3(RYR2):c.623A>G (p.Gln208Arg)
|
|
|
NM_001035.3(RYR2):c.6250A>G (p.Met2084Val)
|
rs1553531464
|
|
NM_001035.3(RYR2):c.6269G>T (p.Arg2090Leu)
|
|
|
NM_001035.3(RYR2):c.6289G>T (p.Gly2097Cys)
|
|
|
NM_001035.3(RYR2):c.6298C>T (p.Arg2100Trp)
|
rs753164125
|
|
NM_001035.3(RYR2):c.6327T>A (p.Asn2109Lys)
|
|
|
NM_001035.3(RYR2):c.6379C>T (p.Arg2127Trp)
|
|
|
NM_001035.3(RYR2):c.6386T>C (p.Leu2129Pro)
|
|
|
NM_001035.3(RYR2):c.640G>A (p.Val214Met)
|
rs1036926941
|
|
NM_001035.3(RYR2):c.640G>C (p.Val214Leu)
|
|
|
NM_001035.3(RYR2):c.647C>A (p.Pro216Gln)
|
|
|
NM_001035.3(RYR2):c.6530A>T (p.Asn2177Ile)
|
rs1553534276
|
|
NM_001035.3(RYR2):c.6531C>G (p.Asn2177Lys)
|
rs757298566
|
|
NM_001035.3(RYR2):c.6585C>G (p.Asn2195Lys)
|
rs2148700748
|
|
NM_001035.3(RYR2):c.6614G>A (p.Arg2205His)
|
|
|
NM_001035.3(RYR2):c.6688+3A>G
|
|
|
NM_001035.3(RYR2):c.6689-3T>A
|
rs886046272
|
|
NM_001035.3(RYR2):c.6792G>C (p.Lys2264Asn)
|
rs1680728738
|
|
NM_001035.3(RYR2):c.6793-4G>A
|
rs568936247
|
|
NM_001035.3(RYR2):c.6793-4G>T
|
rs568936247
|
|
NM_001035.3(RYR2):c.6811G>T (p.Gly2271Cys)
|
rs375371340
|
|
NM_001035.3(RYR2):c.6841G>A (p.Val2281Met)
|
|
|
NM_001035.3(RYR2):c.6856C>T (p.Pro2286Ser)
|
|
|
NM_001035.3(RYR2):c.6870G>T (p.Trp2290Cys)
|
|
|
NM_001035.3(RYR2):c.6921C>G (p.Phe2307Leu)
|
|
|
NM_001035.3(RYR2):c.6950C>T (p.Ala2317Val)
|
rs794728750
|
|
NM_001035.3(RYR2):c.6994G>T (p.Gly2332Cys)
|
rs766508848
|
|
NM_001035.3(RYR2):c.7009G>A (p.Gly2337Arg)
|
rs1553263875
|
|
NM_001035.3(RYR2):c.7015G>A (p.Gly2339Ser)
|
rs900562086
|
|
NM_001035.3(RYR2):c.7029_7030delinsCT (p.Leu2344Phe)
|
|
|
NM_001035.3(RYR2):c.7067A>G (p.Asp2356Gly)
|
|
|
NM_001035.3(RYR2):c.7078G>A (p.Asp2360Asn)
|
|
|
NM_001035.3(RYR2):c.7082G>A (p.Gly2361Asp)
|
|
|
NM_001035.3(RYR2):c.7091C>G (p.Pro2364Arg)
|
|
|
NM_001035.3(RYR2):c.70T>G (p.Cys24Gly)
|
rs1266360671
|
|
NM_001035.3(RYR2):c.7111A>G (p.Thr2371Ala)
|
|
|
NM_001035.3(RYR2):c.7144A>G (p.Ile2382Val)
|
rs1179831023
|
|
NM_001035.3(RYR2):c.7150A>G (p.Met2384Val)
|
|
|
NM_001035.3(RYR2):c.7165A>C (p.Met2389Leu)
|
rs746026638
|
|
NM_001035.3(RYR2):c.7205G>A (p.Cys2402Tyr)
|
|
|
NM_001035.3(RYR2):c.7208C>T (p.Ala2403Val)
|
|
|
NM_001035.3(RYR2):c.725A>T (p.Asp242Val)
|
|
|
NM_001035.3(RYR2):c.7274C>G (p.Ser2425Cys)
|
|
|
NM_001035.3(RYR2):c.7276C>T (p.Leu2426Phe)
|
rs2148757954
|
|
NM_001035.3(RYR2):c.727G>A (p.Glu243Lys)
|
rs794728712
|
|
NM_001035.3(RYR2):c.7303G>C (p.Val2435Leu)
|
rs188835713
|
|
NM_001035.3(RYR2):c.7330A>G (p.Thr2444Ala)
|
rs1681783995
|
|
NM_001035.3(RYR2):c.7378T>C (p.Phe2460Leu)
|
|
|
NM_001035.3(RYR2):c.7477C>G (p.Leu2493Val)
|
rs886046273
|
|
NM_001035.3(RYR2):c.749G>T (p.Gly250Val)
|
rs376925177
|
|
NM_001035.3(RYR2):c.7512+3G>A
|
|
|
NM_001035.3(RYR2):c.7553G>A (p.Arg2518Gln)
|
|
|
NM_001035.3(RYR2):c.7558C>A (p.Leu2520Ile)
|
rs1060500136
|
|
NM_001035.3(RYR2):c.7591T>C (p.Cys2531Arg)
|
|
|
NM_001035.3(RYR2):c.7630C>T (p.Leu2544Phe)
|
|
|
NM_001035.3(RYR2):c.7648C>T (p.His2550Tyr)
|
|
|
NM_001035.3(RYR2):c.7732G>C (p.Gly2578Arg)
|
|
|
NM_001035.3(RYR2):c.774-4A>G
|
|
|
NM_001035.3(RYR2):c.7742G>A (p.Arg2581Lys)
|
rs1682718413
|
|
NM_001035.3(RYR2):c.7748C>T (p.Ser2583Phe)
|
|
|
NM_001035.3(RYR2):c.7808C>G (p.Ala2603Gly)
|
|
|
NM_001035.3(RYR2):c.7808C>T (p.Ala2603Val)
|
rs752607318
|
|
NM_001035.3(RYR2):c.7868T>C (p.Leu2623Pro)
|
rs1553269568
|
|
NM_001035.3(RYR2):c.7874G>C (p.Gly2625Ala)
|
rs1331814541
|
|
NM_001035.3(RYR2):c.7885A>C (p.Asn2629His)
|
|
|
NM_001035.3(RYR2):c.7897G>A (p.Ala2633Thr)
|
rs1683042825
|
|
NM_001035.3(RYR2):c.7906G>A (p.Glu2636Lys)
|
rs1683044033
|
|
NM_001035.3(RYR2):c.7922C>T (p.Ser2641Leu)
|
|
|
NM_001035.3(RYR2):c.7927A>C (p.Lys2643Gln)
|
|
|
NM_001035.3(RYR2):c.7952C>T (p.Ala2651Val)
|
rs1259240846
|
|
NM_001035.3(RYR2):c.7964del (p.Lys2655fs)
|
|
|
NM_001035.3(RYR2):c.7965+3A>G
|
|
|
NM_001035.3(RYR2):c.796G>T (p.Ala266Ser)
|
|
|
NM_001035.3(RYR2):c.7984T>G (p.Phe2662Val)
|
rs2148823138
|
|
NM_001035.3(RYR2):c.7993G>C (p.Ala2665Pro)
|
|
|
NM_001035.3(RYR2):c.7997T>A (p.Leu2666Gln)
|
|
|
NM_001035.3(RYR2):c.8045A>C (p.Glu2682Ala)
|
|
|
NM_001035.3(RYR2):c.80C>G (p.Thr27Ser)
|
rs1399536009
|
|
NM_001035.3(RYR2):c.8131A>G (p.Ile2711Val)
|
rs1465720686
|
|
NM_001035.3(RYR2):c.8191A>C (p.Lys2731Gln)
|
|
|
NM_001035.3(RYR2):c.8238A>G (p.Ile2746Met)
|
|
|
NM_001035.3(RYR2):c.824G>A (p.Trp275Ter)
|
rs2150028964
|
|
NM_001035.3(RYR2):c.8262G>T (p.Gln2754His)
|
rs773748242
|
|
NM_001035.3(RYR2):c.8332T>C (p.Ser2778Pro)
|
rs1573391679
|
|
NM_001035.3(RYR2):c.8357G>T (p.Gly2786Val)
|
rs1060500149
|
|
NM_001035.3(RYR2):c.8370A>T (p.Glu2790Asp)
|
|
|
NM_001035.3(RYR2):c.8402A>G (p.Tyr2801Cys)
|
|
|
NM_001035.3(RYR2):c.8425C>G (p.Gln2809Glu)
|
|
|
NM_001035.3(RYR2):c.8443G>A (p.Val2815Met)
|
|
|
NM_001035.3(RYR2):c.8474C>A (p.Ala2825Asp)
|
|
|
NM_001035.3(RYR2):c.8482A>T (p.Met2828Leu)
|
|
|
NM_001035.3(RYR2):c.8519T>C (p.Met2840Thr)
|
|
|
NM_001035.3(RYR2):c.8552T>C (p.Ile2851Thr)
|
|
|
NM_001035.3(RYR2):c.8615T>G (p.Val2872Gly)
|
|
|
NM_001035.3(RYR2):c.8617C>T (p.Pro2873Ser)
|
rs1031049689
|
|
NM_001035.3(RYR2):c.8715-4C>G
|
rs1024126701
|
|
NM_001035.3(RYR2):c.8731G>A (p.Glu2911Lys)
|
rs1553277510
|
|
NM_001035.3(RYR2):c.8758C>T (p.Arg2920Ter)
|
|
|
NM_001035.3(RYR2):c.8759G>A (p.Arg2920Gln)
|
rs756302327
|
|
NM_001035.3(RYR2):c.8769T>G (p.Tyr2923Ter)
|
|
|
NM_001035.3(RYR2):c.8818A>G (p.Ile2940Val)
|
|
|
NM_001035.3(RYR2):c.8830+5del
|
|
|
NM_001035.3(RYR2):c.8838C>T (p.Gly2946=)
|
rs758912397
|
|
NM_001035.3(RYR2):c.8879T>A (p.Ile2960Asn)
|
rs759048462
|
|
NM_001035.3(RYR2):c.8893A>G (p.Lys2965Glu)
|
|
|
NM_001035.3(RYR2):c.8912T>A (p.Ile2971Asn)
|
|
|
NM_001035.3(RYR2):c.9017+5A>G
|
|
|
NM_001035.3(RYR2):c.9055A>C (p.Ile3019Leu)
|
rs1686532487
|
|
NM_001035.3(RYR2):c.9067+1del
|
|
|
NM_001035.3(RYR2):c.9068-3T>C
|
rs1273937983
|
|
NM_001035.3(RYR2):c.9080C>T (p.Thr3027Ile)
|
rs1400166034
|
|
NM_001035.3(RYR2):c.9128+5del
|
rs1553289116
|
|
NM_001035.3(RYR2):c.9157G>A (p.Val3053Ile)
|
|
|
NM_001035.3(RYR2):c.9214A>G (p.Met3072Val)
|
|
|
NM_001035.3(RYR2):c.9250C>T (p.Arg3084Ter)
|
rs1356957973
|
|
NM_001035.3(RYR2):c.9271A>T (p.Thr3091Ser)
|
|
|
NM_001035.3(RYR2):c.9296T>C (p.Val3099Ala)
|
rs1687862870
|
|
NM_001035.3(RYR2):c.9308C>G (p.Pro3103Arg)
|
rs1208496897
|
|
NM_001035.3(RYR2):c.9308C>T (p.Pro3103Leu)
|
rs1208496897
|
|
NM_001035.3(RYR2):c.931G>T (p.Asp311Tyr)
|
|
|
NM_001035.3(RYR2):c.9344A>G (p.His3115Arg)
|
|
|
NM_001035.3(RYR2):c.9367+4T>C
|
rs1687869394
|
|
NM_001035.3(RYR2):c.9384G>A (p.Val3128=)
|
rs1225100895
|
|
NM_001035.3(RYR2):c.9392A>G (p.Tyr3131Cys)
|
rs1342384519
|
|
NM_001035.3(RYR2):c.9431A>C (p.Lys3144Thr)
|
|
|
NM_001035.3(RYR2):c.94C>A (p.Gln32Lys)
|
rs1553373926
|
|
NM_001035.3(RYR2):c.9533A>G (p.His3178Arg)
|
|
|
NM_001035.3(RYR2):c.9698A>G (p.His3233Arg)
|
rs1386204884
|
|
NM_001035.3(RYR2):c.9736A>T (p.Met3246Leu)
|
|
|
NM_001035.3(RYR2):c.9747G>T (p.Trp3249Cys)
|
|
|
NM_001035.3(RYR2):c.9750G>T (p.Trp3250Cys)
|
rs775355706
|
|
NM_001035.3(RYR2):c.9770A>G (p.Asn3257Ser)
|
rs1167753426
|
|
NM_001035.3(RYR2):c.9868A>T (p.Ile3290Phe)
|
|
|
NM_001035.3(RYR2):c.9880G>A (p.Ala3294Thr)
|
rs746868168
|
|
NM_001035.3(RYR2):c.9887T>C (p.Met3296Thr)
|
rs876661390
|
|
NM_001035.3(RYR2):c.9958T>G (p.Leu3320Val)
|
rs986776770
|
|
NM_001035.3(RYR2):c.9989C>T (p.Ala3330Val)
|
|
|
NM_001037.5(SCN1B):c.-1C>T
|
rs1057518527
|
|
NM_001037.5(SCN1B):c.151G>A (p.Ala51Thr)
|
|
|
NM_001037.5(SCN1B):c.17C>T (p.Ala6Val)
|
|
|
NM_001037.5(SCN1B):c.1A>C (p.Met1Leu)
|
rs1375857363
|
|
NM_001037.5(SCN1B):c.215G>A (p.Arg72His)
|
rs770751961
|
|
NM_001037.5(SCN1B):c.229G>A (p.Val77Met)
|
|
|
NM_001037.5(SCN1B):c.250G>A (p.Glu84Lys)
|
rs1555720710
|
|
NM_001037.5(SCN1B):c.281G>T (p.Gly94Val)
|
rs2151746413
|
|
NM_001037.5(SCN1B):c.299A>G (p.Asp100Gly)
|
|
|
NM_001037.5(SCN1B):c.331G>A (p.Val111Ile)
|
rs2064228638
|
|
NM_001037.5(SCN1B):c.346T>G (p.Ser116Ala)
|
|
|
NM_001037.5(SCN1B):c.419A>C (p.Lys140Thr)
|
|
|
NM_001037.5(SCN1B):c.424A>G (p.Ile142Val)
|
|
|
NM_001037.5(SCN1B):c.448+4_448+12del
|
rs1322172446
|
|
NM_001037.5(SCN1B):c.461T>C (p.Met154Thr)
|
rs1432198305
|
|
NM_001037.5(SCN1B):c.471C>G (p.Ile157Met)
|
rs765269835
|
|
NM_001037.5(SCN1B):c.489G>A (p.Met163Ile)
|
rs2151748748
|
|
NM_001037.5(SCN1B):c.508T>G (p.Leu170Val)
|
rs748491132
|
|
NM_001037.5(SCN1B):c.50C>T (p.Ala17Val)
|
|
|
NM_001037.5(SCN1B):c.522C>A (p.Leu174=)
|
rs35478147
|
|
NM_001037.5(SCN1B):c.548AGA[1] (p.Lys184del)
|
|
|
NM_001037.5(SCN1B):c.562G>A (p.Ala188Thr)
|
|
|
NM_001037.5(SCN1B):c.565A>C (p.Thr189Pro)
|
|
|
NM_001037.5(SCN1B):c.565A>G (p.Thr189Ala)
|
|
|
NM_001037.5(SCN1B):c.569A>T (p.Glu190Val)
|
|
|
NM_001037.5(SCN1B):c.631dup (p.Cys211fs)
|
|
|
NM_001037.5(SCN1B):c.635C>T (p.Thr212Met)
|
|
|
NM_001037.5(SCN1B):c.641T>C (p.Val214Ala)
|
|
|
NM_001037.5(SCN1B):c.646G>A (p.Val216Met)
|
|
|
NM_001037.5(SCN1B):c.647T>G (p.Val216Gly)
|
|
|
NM_001037.5(SCN1B):c.85G>C (p.Glu29Gln)
|
rs767384862
|
|
NM_001037.5(SCN1B):c.8G>T (p.Arg3Met)
|
rs2151745336
|
|
NM_001037.5(SCN1B):c.91G>A (p.Val31Met)
|
|
|
NM_001040151.2(SCN3B):c.-4G>T
|
|
|
NM_001040151.2(SCN3B):c.118C>A (p.Pro40Thr)
|
|
|
NM_001040151.2(SCN3B):c.121A>G (p.Met41Val)
|
|
|
NM_001040151.2(SCN3B):c.130C>T (p.Arg44Cys)
|
|
|
NM_001040151.2(SCN3B):c.197C>T (p.Pro66Leu)
|
|
|
NM_001040151.2(SCN3B):c.205G>A (p.Gly69Ser)
|
rs1020414330
|
|
NM_001040151.2(SCN3B):c.253G>C (p.Glu85Gln)
|
|
|
NM_001040151.2(SCN3B):c.256del (p.Ser86fs)
|
rs1955806072
|
|
NM_001040151.2(SCN3B):c.266del (p.Gln89fs)
|
|
|
NM_001040151.2(SCN3B):c.272G>A (p.Arg91His)
|
|
|
NM_001040151.2(SCN3B):c.272G>T (p.Arg91Leu)
|
|
|
NM_001040151.2(SCN3B):c.291C>G (p.Ser97Arg)
|
|
|
NM_001040151.2(SCN3B):c.301C>A (p.Gln101Lys)
|
|
|
NM_001040151.2(SCN3B):c.31_55+2del
|
|
|
NM_001040151.2(SCN3B):c.354C>G (p.Tyr118Ter)
|
|
|
NM_001040151.2(SCN3B):c.371G>A (p.Arg124Gln)
|
|
|
NM_001040151.2(SCN3B):c.384T>G (p.Phe128Leu)
|
|
|
NM_001040151.2(SCN3B):c.392_397del (p.His131_Arg132del)
|
rs2137241970
|
|
NM_001040151.2(SCN3B):c.438_439delinsTA (p.Glu147Lys)
|
|
|
NM_001040151.2(SCN3B):c.439G>A (p.Glu147Lys)
|
|
|
NM_001040151.2(SCN3B):c.441G>T (p.Glu147Asp)
|
|
|
NM_001040151.2(SCN3B):c.454G>A (p.Asp152Asn)
|
|
|
NM_001040151.2(SCN3B):c.47T>C (p.Ile16Thr)
|
|
|
NM_001040151.2(SCN3B):c.484A>G (p.Met162Val)
|
|
|
NM_001040151.2(SCN3B):c.486G>A (p.Met162Ile)
|
|
|
NM_001040151.2(SCN3B):c.517C>G (p.Leu173Val)
|
|
|
NM_001040151.2(SCN3B):c.535T>C (p.Tyr179His)
|
|
|
NM_001040151.2(SCN3B):c.562G>A (p.Glu188Lys)
|
|
|
NM_001040151.2(SCN3B):c.565G>A (p.Glu189Lys)
|
|
|
NM_001040151.2(SCN3B):c.574C>G (p.Gln192Glu)
|
|
|
NM_001040151.2(SCN3B):c.591dup (p.Tyr198fs)
|
rs1555114543
|
|
NM_001040151.2(SCN3B):c.608C>T (p.Ser203Phe)
|
|
|
NM_001040151.2(SCN3B):c.628G>A (p.Ala210Thr)
|
|
|
NM_001040151.2(SCN3B):c.62T>C (p.Val21Ala)
|
|
|
NM_001040151.2(SCN3B):c.631G>A (p.Val211Ile)
|
|
|
NM_001040151.2(SCN3B):c.73G>C (p.Val25Leu)
|
|
|
NM_001040151.2(SCN3B):c.74T>C (p.Val25Ala)
|
|
|
NM_001040151.2(SCN3B):c.83A>G (p.Glu28Gly)
|
|
|
NM_001042475.3(CEP85L):c.1020+6611A>T
|
rs749900271
|
|
NM_001077653.2(TBX20):c.1000C>T (p.Arg334Ter)
|
|
|
NM_001077653.2(TBX20):c.1063A>T (p.Ser355Cys)
|
rs1457366029
|
|
NM_001077653.2(TBX20):c.1065T>G (p.Ser355Arg)
|
|
|
NM_001077653.2(TBX20):c.1067T>C (p.Phe356Ser)
|
|
|
NM_001077653.2(TBX20):c.1084C>T (p.Pro362Ser)
|
|
|
NM_001077653.2(TBX20):c.1126G>T (p.Ala376Ser)
|
|
|
NM_001077653.2(TBX20):c.1133C>T (p.Pro378Leu)
|
|
|
NM_001077653.2(TBX20):c.1138C>T (p.Pro380Ser)
|
|
|
NM_001077653.2(TBX20):c.1153G>T (p.Gly385Cys)
|
|
|
NM_001077653.2(TBX20):c.1174C>T (p.Arg392Ter)
|
|
|
NM_001077653.2(TBX20):c.1175G>T (p.Arg392Leu)
|
rs768119874
|
|
NM_001077653.2(TBX20):c.1186C>G (p.Pro396Ala)
|
|
|
NM_001077653.2(TBX20):c.1211G>A (p.Ser404Asn)
|
|
|
NM_001077653.2(TBX20):c.1254G>C (p.Met418Ile)
|
|
|
NM_001077653.2(TBX20):c.1256C>T (p.Pro419Leu)
|
|
|
NM_001077653.2(TBX20):c.1258C>T (p.Arg420Ter)
|
|
|
NM_001077653.2(TBX20):c.1264C>A (p.His422Asn)
|
|
|
NM_001077653.2(TBX20):c.1269C>G (p.His423Gln)
|
|
|
NM_001077653.2(TBX20):c.127+5G>A
|
|
|
NM_001077653.2(TBX20):c.1297A>G (p.Ile433Val)
|
|
|
NM_001077653.2(TBX20):c.1310G>T (p.Arg437Leu)
|
rs375484585
|
|
NM_001077653.2(TBX20):c.1334C>T (p.Pro445Leu)
|
|
|
NM_001077653.2(TBX20):c.133T>C (p.Phe45Leu)
|
|
|
NM_001077653.2(TBX20):c.142A>G (p.Lys48Glu)
|
|
|
NM_001077653.2(TBX20):c.179G>T (p.Ser60Ile)
|
rs1195753406
|
|
NM_001077653.2(TBX20):c.17C>T (p.Ser6Phe)
|
|
|
NM_001077653.2(TBX20):c.201T>G (p.Phe67Leu)
|
|
|
NM_001077653.2(TBX20):c.215G>A (p.Gly72Asp)
|
|
|
NM_001077653.2(TBX20):c.224C>A (p.Pro75Gln)
|
|
|
NM_001077653.2(TBX20):c.238C>G (p.Leu80Val)
|
rs1790274874
|
|
NM_001077653.2(TBX20):c.278C>T (p.Pro93Leu)
|
|
|
NM_001077653.2(TBX20):c.290T>C (p.Met97Thr)
|
|
|
NM_001077653.2(TBX20):c.320A>G (p.Lys107Arg)
|
|
|
NM_001077653.2(TBX20):c.349G>A (p.Gly117Ser)
|
|
|
NM_001077653.2(TBX20):c.389T>G (p.Phe130Cys)
|
|
|
NM_001077653.2(TBX20):c.450G>C (p.Met150Ile)
|
|
|
NM_001077653.2(TBX20):c.461C>T (p.Pro154Leu)
|
|
|
NM_001077653.2(TBX20):c.46A>C (p.Asn16His)
|
|
|
NM_001077653.2(TBX20):c.487G>A (p.Ala163Thr)
|
|
|
NM_001077653.2(TBX20):c.487_492del (p.Ala163_Tyr164del)
|
|
|
NM_001077653.2(TBX20):c.503C>T (p.Ser168Phe)
|
|
|
NM_001077653.2(TBX20):c.509T>A (p.Leu170Gln)
|
|
|
NM_001077653.2(TBX20):c.514G>T (p.Ala172Ser)
|
|
|
NM_001077653.2(TBX20):c.545+2T>C
|
|
|
NM_001077653.2(TBX20):c.559C>T (p.Pro187Ser)
|
|
|
NM_001077653.2(TBX20):c.569C>A (p.Pro190His)
|
rs1304347935
|
|
NM_001077653.2(TBX20):c.572T>C (p.Phe191Ser)
|
|
|
NM_001077653.2(TBX20):c.622C>G (p.Leu208Val)
|
|
|
NM_001077653.2(TBX20):c.653A>T (p.His218Leu)
|
|
|
NM_001077653.2(TBX20):c.674A>G (p.His225Arg)
|
|
|
NM_001077653.2(TBX20):c.676A>G (p.Lys226Glu)
|
|
|
NM_001077653.2(TBX20):c.691G>C (p.Val231Leu)
|
|
|
NM_001077653.2(TBX20):c.697A>G (p.Ile233Val)
|
|
|
NM_001077653.2(TBX20):c.70A>G (p.Met24Val)
|
|
|
NM_001077653.2(TBX20):c.714C>A (p.Asp238Glu)
|
|
|
NM_001077653.2(TBX20):c.719C>T (p.Thr240Ile)
|
|
|
NM_001077653.2(TBX20):c.745G>A (p.Glu249Lys)
|
|
|
NM_001077653.2(TBX20):c.818C>T (p.Thr273Met)
|
rs1554286367
|
|
NM_001077653.2(TBX20):c.829A>G (p.Ile277Val)
|
|
|
NM_001077653.2(TBX20):c.850A>G (p.Lys284Glu)
|
|
|
NM_001077653.2(TBX20):c.851A>G (p.Lys284Arg)
|
|
|
NM_001077653.2(TBX20):c.85T>C (p.Ser29Pro)
|
|
|
NM_001077653.2(TBX20):c.872G>A (p.Arg291Lys)
|
|
|
NM_001077653.2(TBX20):c.902A>T (p.Glu301Val)
|
|
|
NM_001077653.2(TBX20):c.928G>A (p.Ala310Thr)
|
|
|
NM_001077653.2(TBX20):c.932G>A (p.Arg311His)
|
|
|
NM_001077653.2(TBX20):c.932G>T (p.Arg311Leu)
|
|
|
NM_001077653.2(TBX20):c.947C>A (p.Thr316Asn)
|
|
|
NM_001077653.2(TBX20):c.952G>A (p.Gly318Arg)
|
|
|
NM_001077653.2(TBX20):c.982A>G (p.Ser328Gly)
|
|
|
NM_001077653.2(TBX20):c.991A>G (p.Thr331Ala)
|
|
|
NM_001077653.2(TBX20):c.997A>G (p.Asn333Asp)
|
|
|
NM_001079802.2(FKTN):c.1009G>A (p.Asp337Asn)
|
|
|
NM_001079802.2(FKTN):c.1034A>G (p.Lys345Arg)
|
|
|
NM_001079802.2(FKTN):c.1045-3T>A
|
|
|
NM_001079802.2(FKTN):c.106-2A>C
|
|
|
NM_001079802.2(FKTN):c.1088T>G (p.Val363Gly)
|
rs1362238936
|
|
NM_001079802.2(FKTN):c.10A>T (p.Ile4Phe)
|
|
|
NM_001079802.2(FKTN):c.1119A>C (p.Glu373Asp)
|
rs371776972
|
|
NM_001079802.2(FKTN):c.1149G>C (p.Gln383His)
|
|
|
NM_001079802.2(FKTN):c.1185G>T (p.Pro395=)
|
rs141886790
|
|
NM_001079802.2(FKTN):c.1196T>C (p.Leu399Pro)
|
rs1833923288
|
|
NM_001079802.2(FKTN):c.1250A>T (p.Glu417Val)
|
rs543684877
|
|
NM_001079802.2(FKTN):c.1255A>G (p.Ile419Val)
|
rs2133451721
|
|
NM_001079802.2(FKTN):c.1259A>T (p.Glu420Val)
|
|
|
NM_001079802.2(FKTN):c.1313G>T (p.Arg438Leu)
|
|
|
NM_001079802.2(FKTN):c.1325A>T (p.Asn442Ile)
|
|
|
NM_001079802.2(FKTN):c.1355C>T (p.Ser452Phe)
|
|
|
NM_001079802.2(FKTN):c.153T>G (p.Asp51Glu)
|
|
|
NM_001079802.2(FKTN):c.214G>T (p.Val72Leu)
|
|
|
NM_001079802.2(FKTN):c.220C>A (p.Leu74Ile)
|
rs1060501407
|
|
NM_001079802.2(FKTN):c.223A>G (p.Ile75Val)
|
rs1827816995
|
|
NM_001079802.2(FKTN):c.22G>T (p.Val8Leu)
|
rs368981218
|
|
NM_001079802.2(FKTN):c.278C>T (p.Thr93Ile)
|
|
|
NM_001079802.2(FKTN):c.290C>G (p.Ser97Cys)
|
|
|
NM_001079802.2(FKTN):c.293C>G (p.Thr98Ser)
|
rs376452959
|
|
NM_001079802.2(FKTN):c.335C>T (p.Ala112Val)
|
|
|
NM_001079802.2(FKTN):c.350A>C (p.Tyr117Ser)
|
|
|
NM_001079802.2(FKTN):c.374G>A (p.Gly125Asp)
|
rs142783718
|
|
NM_001079802.2(FKTN):c.374G>C (p.Gly125Ala)
|
rs142783718
|
|
NM_001079802.2(FKTN):c.374G>T (p.Gly125Val)
|
rs142783718
|
|
NM_001079802.2(FKTN):c.394A>G (p.Asn132Asp)
|
rs2132791236
|
|
NM_001079802.2(FKTN):c.408G>C (p.Gln136His)
|
|
|
NM_001079802.2(FKTN):c.419T>C (p.Ile140Thr)
|
|
|
NM_001079802.2(FKTN):c.457C>G (p.Leu153Val)
|
rs977350409
|
|
NM_001079802.2(FKTN):c.479T>C (p.Leu160Pro)
|
|
|
NM_001079802.2(FKTN):c.487A>G (p.Ile163Val)
|
|
|
NM_001079802.2(FKTN):c.506A>G (p.His169Arg)
|
|
|
NM_001079802.2(FKTN):c.509C>T (p.Ala170Val)
|
|
|
NM_001079802.2(FKTN):c.569G>A (p.Arg190Lys)
|
rs760967116
|
|
NM_001079802.2(FKTN):c.619T>G (p.Phe207Val)
|
rs1461669175
|
|
NM_001079802.2(FKTN):c.623G>A (p.Gly208Asp)
|
rs778048703
|
|
NM_001079802.2(FKTN):c.625C>T (p.Arg209Cys)
|
rs749576551
|
|
NM_001079802.2(FKTN):c.647G>A (p.Arg216Lys)
|
rs1828504500
|
|
NM_001079802.2(FKTN):c.653A>T (p.Glu218Val)
|
rs978338266
|
|
NM_001079802.2(FKTN):c.664G>A (p.Val222Ile)
|
rs1293245717
|
|
NM_001079802.2(FKTN):c.694C>T (p.Pro232Ser)
|
rs1034968484
|
|
NM_001079802.2(FKTN):c.731A>G (p.His244Arg)
|
|
|
NM_001079802.2(FKTN):c.767G>A (p.Arg256Gln)
|
|
|
NM_001079802.2(FKTN):c.835G>A (p.Glu279Lys)
|
|
|
NM_001079802.2(FKTN):c.836A>G (p.Glu279Gly)
|
|
|
NM_001079802.2(FKTN):c.841C>G (p.Leu281Val)
|
rs199697041
|
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NM_001079802.2(FKTN):c.89A>G (p.His30Arg)
|
|
|
NM_001079802.2(FKTN):c.917A>G (p.Tyr306Cys)
|
|
|
NM_001079802.2(FKTN):c.941A>G (p.Tyr314Cys)
|
rs1451453111
|
|
NM_001103.4(ACTN2):c.1001A>G (p.Lys334Arg)
|
|
|
NM_001103.4(ACTN2):c.1017C>G (p.Cys339Trp)
|
|
|
NM_001103.4(ACTN2):c.102del (p.Ala35fs)
|
|
|
NM_001103.4(ACTN2):c.1130G>A (p.Arg377Lys)
|
rs1325419598
|
|
NM_001103.4(ACTN2):c.1149G>T (p.Lys383Asn)
|
|
|
NM_001103.4(ACTN2):c.1150G>T (p.Gly384Cys)
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|
|
NM_001103.4(ACTN2):c.1156G>A (p.Glu386Lys)
|
|
|
NM_001103.4(ACTN2):c.1162T>G (p.Trp388Gly)
|
rs376144003
|
|
NM_001103.4(ACTN2):c.1208C>A (p.Ala403Asp)
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|
|
NM_001103.4(ACTN2):c.1237C>G (p.His413Asp)
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|
|
NM_001103.4(ACTN2):c.1240G>A (p.Glu414Lys)
|
rs1558243189
|
|
NM_001103.4(ACTN2):c.1242G>T (p.Glu414Asp)
|
rs775057676
|
|
NM_001103.4(ACTN2):c.1255+1G>C
|
rs1367331045
|
|
NM_001103.4(ACTN2):c.1271T>C (p.Leu424Ser)
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|
|
NM_001103.4(ACTN2):c.1281G>T (p.Lys427Asn)
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|
NM_001103.4(ACTN2):c.1298C>G (p.Ser433Trp)
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|
NM_001103.4(ACTN2):c.1300C>G (p.Leu434Val)
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|
|
NM_001103.4(ACTN2):c.1330C>G (p.His444Asp)
|
rs1064796600
|
|
NM_001103.4(ACTN2):c.1348G>A (p.Asp450Asn)
|
rs774252565
|
|
NM_001103.4(ACTN2):c.1348G>T (p.Asp450Tyr)
|
rs774252565
|
|
NM_001103.4(ACTN2):c.1358C>T (p.Ala453Val)
|
rs566860712
|
|
NM_001103.4(ACTN2):c.1415A>G (p.Asp472Gly)
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|
|
NM_001103.4(ACTN2):c.1444C>G (p.Arg482Gly)
|
rs199604590
|
|
NM_001103.4(ACTN2):c.1494G>C (p.Gln498His)
|
rs1413564541
|
|
NM_001103.4(ACTN2):c.1538C>T (p.Thr513Ile)
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|
|
NM_001103.4(ACTN2):c.1603G>A (p.Ala535Thr)
|
|
|
NM_001103.4(ACTN2):c.1625T>C (p.Met542Thr)
|
rs778713804
|
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NM_001103.4(ACTN2):c.1665C>G (p.Ile555Met)
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|
|
NM_001103.4(ACTN2):c.1703C>T (p.Ala568Val)
|
rs776805533
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NM_001103.4(ACTN2):c.1739A>G (p.Asn580Ser)
|
|
|
NM_001103.4(ACTN2):c.1753G>A (p.Val585Met)
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NM_001103.4(ACTN2):c.175A>G (p.Ile59Val)
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|
|
NM_001103.4(ACTN2):c.1775G>T (p.Arg592Ile)
|
rs774780856
|
|
NM_001103.4(ACTN2):c.1778T>C (p.Ile593Thr)
|
|
|
NM_001103.4(ACTN2):c.1780A>G (p.Ser594Gly)
|
rs1572143496
|
|
NM_001103.4(ACTN2):c.1793C>T (p.Pro598Leu)
|
|
|
NM_001103.4(ACTN2):c.1816G>C (p.Glu606Gln)
|
|
|
NM_001103.4(ACTN2):c.1825A>C (p.Thr609Pro)
|
|
|
NM_001103.4(ACTN2):c.1832G>A (p.Trp611Ter)
|
|
|
NM_001103.4(ACTN2):c.1840-5G>A
|
rs2102942477
|
|
NM_001103.4(ACTN2):c.1861C>T (p.Arg621Cys)
|
rs756407851
|
|
NM_001103.4(ACTN2):c.1888G>A (p.Ala630Thr)
|
rs1338074315
|
|
NM_001103.4(ACTN2):c.1898A>G (p.His633Arg)
|
|
|
NM_001103.4(ACTN2):c.1909C>A (p.Arg637Ser)
|
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NM_001103.4(ACTN2):c.191A>G (p.Glu64Gly)
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|
NM_001103.4(ACTN2):c.1923G>T (p.Gln641His)
|
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|
NM_001103.4(ACTN2):c.1949G>T (p.Gly650Val)
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|
|
NM_001103.4(ACTN2):c.1969A>T (p.Met657Leu)
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|
NM_001103.4(ACTN2):c.1975-5C>T
|
|
|
NM_001103.4(ACTN2):c.1984C>G (p.Arg662Gly)
|
rs150021739
|
|
NM_001103.4(ACTN2):c.1990T>A (p.Ser664Thr)
|
|
|
NM_001103.4(ACTN2):c.2051A>T (p.Asn684Ile)
|
rs576783493
|
|
NM_001103.4(ACTN2):c.2056A>G (p.Ile686Val)
|
|
|
NM_001103.4(ACTN2):c.2060A>C (p.Asn687Thr)
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|
NM_001103.4(ACTN2):c.2060_2061delinsCA (p.Asn687Thr)
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|
NM_001103.4(ACTN2):c.2061C>A (p.Asn687Lys)
|
|
|
NM_001103.4(ACTN2):c.2069ACA[1] (p.Asn691del)
|
rs757747164
|
|
NM_001103.4(ACTN2):c.2070C>A (p.Asn690Lys)
|
|
|
NM_001103.4(ACTN2):c.2087A>G (p.Glu696Gly)
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|
|
NM_001103.4(ACTN2):c.2113G>A (p.Ala705Thr)
|
rs1659517244
|
|
NM_001103.4(ACTN2):c.2161C>T (p.Arg721Cys)
|
rs149433837
|
|
NM_001103.4(ACTN2):c.2168G>A (p.Gly723Glu)
|
|
|
NM_001103.4(ACTN2):c.2207A>T (p.Asn736Ile)
|
|
|
NM_001103.4(ACTN2):c.2211G>T (p.Glu737Asp)
|
|
|
NM_001103.4(ACTN2):c.2214G>A (p.Val738=)
|
|
|
NM_001103.4(ACTN2):c.2233A>T (p.Arg745Ter)
|
rs2102947099
|
|
NM_001103.4(ACTN2):c.2240C>T (p.Ala747Val)
|
rs1060503686
|
|
NM_001103.4(ACTN2):c.2295T>G (p.Phe765Leu)
|
|
|
NM_001103.4(ACTN2):c.22G>C (p.Val8Leu)
|
|
|
NM_001103.4(ACTN2):c.22G>T (p.Val8Leu)
|
|
|
NM_001103.4(ACTN2):c.2353A>G (p.Met785Val)
|
|
|
NM_001103.4(ACTN2):c.2368-1G>C
|
|
|
NM_001103.4(ACTN2):c.2395A>G (p.Thr799Ala)
|
|
|
NM_001103.4(ACTN2):c.2411A>G (p.Asn804Ser)
|
rs776329264
|
|
NM_001103.4(ACTN2):c.241G>C (p.Gly81Arg)
|
|
|
NM_001103.4(ACTN2):c.2423C>T (p.Thr808Ile)
|
rs148833906
|
|
NM_001103.4(ACTN2):c.242G>A (p.Gly81Glu)
|
rs1658299884
|
|
NM_001103.4(ACTN2):c.2452A>G (p.Met818Val)
|
|
|
NM_001103.4(ACTN2):c.2467G>T (p.Ala823Ser)
|
rs2102951725
|
|
NM_001103.4(ACTN2):c.2470G>C (p.Asp824His)
|
|
|
NM_001103.4(ACTN2):c.2479A>G (p.Thr827Ala)
|
|
|
NM_001103.4(ACTN2):c.2485G>T (p.Glu829Ter)
|
rs770335717
|
|
NM_001103.4(ACTN2):c.249G>C (p.Arg83Ser)
|
|
|
NM_001103.4(ACTN2):c.2508G>A (p.Arg836=)
|
rs2102951896
|
|
NM_001103.4(ACTN2):c.2527-3C>T
|
|
|
NM_001103.4(ACTN2):c.253C>T (p.Pro85Ser)
|
rs1558232396
|
|
NM_001103.4(ACTN2):c.2572C>T (p.Gln858Ter)
|
|
|
NM_001103.4(ACTN2):c.2598G>T (p.Met866Ile)
|
|
|
NM_001103.4(ACTN2):c.2614C>G (p.Pro872Ala)
|
|
|
NM_001103.4(ACTN2):c.2614_2616delinsGAG (p.Pro872Glu)
|
|
|
NM_001103.4(ACTN2):c.2615C>A (p.Pro872Gln)
|
|
|
NM_001103.4(ACTN2):c.2656T>C (p.Ser886Pro)
|
|
|
NM_001103.4(ACTN2):c.274A>C (p.Met92Leu)
|
|
|
NM_001103.4(ACTN2):c.31A>C (p.Asn11His)
|
rs886046205
|
|
NM_001103.4(ACTN2):c.35A>G (p.Tyr12Cys)
|
|
|
NM_001103.4(ACTN2):c.361+5G>C
|
rs1553300073
|
|
NM_001103.4(ACTN2):c.362-4G>A
|
rs1014042332
|
|
NM_001103.4(ACTN2):c.368T>C (p.Val123Ala)
|
|
|
NM_001103.4(ACTN2):c.41A>G (p.Tyr14Cys)
|
|
|
NM_001103.4(ACTN2):c.432G>C (p.Gln144His)
|
|
|
NM_001103.4(ACTN2):c.439T>C (p.Ser147Pro)
|
rs886038915
|
|
NM_001103.4(ACTN2):c.43G>A (p.Asp15Asn)
|
|
|
NM_001103.4(ACTN2):c.447A>C (p.Glu149Asp)
|
|
|
NM_001103.4(ACTN2):c.458C>T (p.Ala153Val)
|
|
|
NM_001103.4(ACTN2):c.506G>C (p.Arg169Thr)
|
rs727505146
|
|
NM_001103.4(ACTN2):c.518T>C (p.Ile173Thr)
|
|
|
NM_001103.4(ACTN2):c.556C>G (p.Leu186Val)
|
rs371930065
|
|
NM_001103.4(ACTN2):c.565C>T (p.Leu189Phe)
|
|
|
NM_001103.4(ACTN2):c.589C>T (p.Leu197Phe)
|
rs760937883
|
|
NM_001103.4(ACTN2):c.58A>G (p.Met20Val)
|
|
|
NM_001103.4(ACTN2):c.649G>A (p.Glu217Lys)
|
|
|
NM_001103.4(ACTN2):c.674T>G (p.Ile225Ser)
|
rs1553301462
|
|
NM_001103.4(ACTN2):c.697G>A (p.Asp233Asn)
|
rs904672923
|
|
NM_001103.4(ACTN2):c.713C>G (p.Pro238Arg)
|
|
|
NM_001103.4(ACTN2):c.725A>G (p.Glu242Gly)
|
|
|
NM_001103.4(ACTN2):c.763G>A (p.Ala255Thr)
|
rs1060503682
|
|
NM_001103.4(ACTN2):c.787G>A (p.Glu263Lys)
|
|
|
NM_001103.4(ACTN2):c.793G>A (p.Ala265Thr)
|
|
|
NM_001103.4(ACTN2):c.794C>T (p.Ala265Val)
|
rs794728965
|
|
NM_001103.4(ACTN2):c.836A>C (p.Asn279Thr)
|
|
|
NM_001103.4(ACTN2):c.857A>G (p.Tyr286Cys)
|
|
|
NM_001103.4(ACTN2):c.905C>T (p.Pro302Leu)
|
|
|
NM_001103.4(ACTN2):c.964G>A (p.Asp322Asn)
|
|
|
NM_001103.4(ACTN2):c.971G>C (p.Arg324Pro)
|
rs1240148760
|
|
NM_001103.4(ACTN2):c.988C>G (p.His330Asp)
|
|
|
NM_001105206.3(LAMA4):c.1010T>C (p.Ile337Thr)
|
|
|
NM_001105206.3(LAMA4):c.1018A>C (p.Asn340His)
|
|
|
NM_001105206.3(LAMA4):c.1018A>G (p.Asn340Asp)
|
|
|
NM_001105206.3(LAMA4):c.1034C>T (p.Thr345Met)
|
|
|
NM_001105206.3(LAMA4):c.103G>A (p.Asp35Asn)
|
|
|
NM_001105206.3(LAMA4):c.1056C>G (p.Asp352Glu)
|
|
|
NM_001105206.3(LAMA4):c.1065A>C (p.Glu355Asp)
|
|
|
NM_001105206.3(LAMA4):c.1065A>T (p.Glu355Asp)
|
|
|
NM_001105206.3(LAMA4):c.1069G>A (p.Val357Ile)
|
rs2114930469
|
|
NM_001105206.3(LAMA4):c.106A>G (p.Ile36Val)
|
rs727503116
|
|
NM_001105206.3(LAMA4):c.1070_1077+1delinsAGGAATTAGTAGAGGAATACA
|
|
|
NM_001105206.3(LAMA4):c.1073A>G (p.Glu358Gly)
|
|
|
NM_001105206.3(LAMA4):c.107T>A (p.Ile36Asn)
|
|
|
NM_001105206.3(LAMA4):c.1085A>C (p.Gln362Pro)
|
|
|
NM_001105206.3(LAMA4):c.1127A>G (p.Asp376Gly)
|
rs782061102
|
|
NM_001105206.3(LAMA4):c.112G>A (p.Gly38Arg)
|
|
|
NM_001105206.3(LAMA4):c.1133T>G (p.Ile378Ser)
|
|
|
NM_001105206.3(LAMA4):c.1140C>A (p.His380Gln)
|
|
|
NM_001105206.3(LAMA4):c.1141G>A (p.Ala381Thr)
|
|
|
NM_001105206.3(LAMA4):c.1179T>A (p.Asp393Glu)
|
|
|
NM_001105206.3(LAMA4):c.1197C>A (p.Asn399Lys)
|
|
|
NM_001105206.3(LAMA4):c.1200C>A (p.Asn400Lys)
|
|
|
NM_001105206.3(LAMA4):c.1213T>C (p.Tyr405His)
|
|
|
NM_001105206.3(LAMA4):c.1271A>T (p.Gln424Leu)
|
|
|
NM_001105206.3(LAMA4):c.1276A>G (p.Met426Val)
|
|
|
NM_001105206.3(LAMA4):c.1284A>C (p.Glu428Asp)
|
|
|
NM_001105206.3(LAMA4):c.1318C>G (p.Arg440Gly)
|
rs140911762
|
|
NM_001105206.3(LAMA4):c.1330G>T (p.Asp444Tyr)
|
|
|
NM_001105206.3(LAMA4):c.1336G>A (p.Glu446Lys)
|
|
|
NM_001105206.3(LAMA4):c.1354G>A (p.Glu452Lys)
|
|
|
NM_001105206.3(LAMA4):c.1357+4G>A
|
|
|
NM_001105206.3(LAMA4):c.1393_1395del (p.Asn465del)
|
|
|
NM_001105206.3(LAMA4):c.140C>T (p.Pro47Leu)
|
rs727503115
|
|
NM_001105206.3(LAMA4):c.1437_1442dup (p.Asp480_Tyr481dup)
|
rs782294432
|
|
NM_001105206.3(LAMA4):c.1484C>A (p.Ala495Asp)
|
|
|
NM_001105206.3(LAMA4):c.1486C>G (p.Leu496Val)
|
|
|
NM_001105206.3(LAMA4):c.1523C>A (p.Ala508Asp)
|
|
|
NM_001105206.3(LAMA4):c.1523C>T (p.Ala508Val)
|
|
|
NM_001105206.3(LAMA4):c.152G>C (p.Ser51Thr)
|
|
|
NM_001105206.3(LAMA4):c.1540C>T (p.Arg514Trp)
|
|
|
NM_001105206.3(LAMA4):c.1552-5C>T
|
|
|
NM_001105206.3(LAMA4):c.1567G>A (p.Val523Met)
|
|
|
NM_001105206.3(LAMA4):c.1571G>A (p.Arg524Lys)
|
|
|
NM_001105206.3(LAMA4):c.1577A>C (p.Gln526Pro)
|
|
|
NM_001105206.3(LAMA4):c.1580T>C (p.Met527Thr)
|
|
|
NM_001105206.3(LAMA4):c.1598C>T (p.Ser533Phe)
|
|
|
NM_001105206.3(LAMA4):c.1630C>T (p.Pro544Ser)
|
|
|
NM_001105206.3(LAMA4):c.1640del (p.Thr547fs)
|
|
|
NM_001105206.3(LAMA4):c.1642C>T (p.Leu548Phe)
|
|
|
NM_001105206.3(LAMA4):c.1651C>T (p.Leu551Phe)
|
|
|
NM_001105206.3(LAMA4):c.1658A>C (p.Asp553Ala)
|
|
|
NM_001105206.3(LAMA4):c.1658A>G (p.Asp553Gly)
|
|
|
NM_001105206.3(LAMA4):c.1663A>G (p.Ile555Val)
|
|
|
NM_001105206.3(LAMA4):c.1669-16_1669-2del
|
|
|
NM_001105206.3(LAMA4):c.1669-5T>C
|
|
|
NM_001105206.3(LAMA4):c.1675T>C (p.Ser559Pro)
|
|
|
NM_001105206.3(LAMA4):c.1685A>T (p.Tyr562Phe)
|
|
|
NM_001105206.3(LAMA4):c.1748G>A (p.Ser583Asn)
|
|
|
NM_001105206.3(LAMA4):c.1778A>T (p.His593Leu)
|
|
|
NM_001105206.3(LAMA4):c.1801G>A (p.Ala601Thr)
|
rs1554337589
|
|
NM_001105206.3(LAMA4):c.1816A>G (p.Arg606Gly)
|
|
|
NM_001105206.3(LAMA4):c.1873A>G (p.Asn625Asp)
|
|
|
NM_001105206.3(LAMA4):c.1891G>C (p.Val631Leu)
|
|
|
NM_001105206.3(LAMA4):c.1910C>T (p.Ala637Val)
|
|
|
NM_001105206.3(LAMA4):c.1919C>T (p.Thr640Ile)
|
|
|
NM_001105206.3(LAMA4):c.1949G>A (p.Arg650Gln)
|
|
|
NM_001105206.3(LAMA4):c.194A>T (p.Glu65Val)
|
|
|
NM_001105206.3(LAMA4):c.1967G>A (p.Ser656Asn)
|
|
|
NM_001105206.3(LAMA4):c.1995T>G (p.His665Gln)
|
|
|
NM_001105206.3(LAMA4):c.2017C>T (p.Leu673Phe)
|
|
|
NM_001105206.3(LAMA4):c.2057G>C (p.Ser686Thr)
|
rs1174262178
|
|
NM_001105206.3(LAMA4):c.2075C>T (p.Ala692Val)
|
|
|
NM_001105206.3(LAMA4):c.2083A>G (p.Ser695Gly)
|
|
|
NM_001105206.3(LAMA4):c.2114A>G (p.Lys705Arg)
|
rs1780338421
|
|
NM_001105206.3(LAMA4):c.2134C>T (p.Leu712Phe)
|
rs562879510
|
|
NM_001105206.3(LAMA4):c.2137A>G (p.Ser713Gly)
|
|
|
NM_001105206.3(LAMA4):c.2168A>G (p.Glu723Gly)
|
|
|
NM_001105206.3(LAMA4):c.2189G>T (p.Arg730Leu)
|
|
|
NM_001105206.3(LAMA4):c.2231C>T (p.Thr744Met)
|
|
|
NM_001105206.3(LAMA4):c.2266G>C (p.Ala756Pro)
|
|
|
NM_001105206.3(LAMA4):c.2270A>G (p.Asn757Ser)
|
|
|
NM_001105206.3(LAMA4):c.2279C>T (p.Thr760Ile)
|
|
|
NM_001105206.3(LAMA4):c.2281A>G (p.Asn761Asp)
|
|
|
NM_001105206.3(LAMA4):c.2286G>T (p.Trp762Cys)
|
|
|
NM_001105206.3(LAMA4):c.2317G>A (p.Ala773Thr)
|
|
|
NM_001105206.3(LAMA4):c.2354-1G>A
|
|
|
NM_001105206.3(LAMA4):c.2368G>A (p.Glu790Lys)
|
|
|
NM_001105206.3(LAMA4):c.2381A>G (p.Gln794Arg)
|
|
|
NM_001105206.3(LAMA4):c.2399G>A (p.Arg800His)
|
|
|
NM_001105206.3(LAMA4):c.2417G>A (p.Arg806Gln)
|
rs1554334150
|
|
NM_001105206.3(LAMA4):c.2419C>A (p.Pro807Thr)
|
|
|
NM_001105206.3(LAMA4):c.2428A>G (p.Asn810Asp)
|
|
|
NM_001105206.3(LAMA4):c.2488A>G (p.Ser830Gly)
|
|
|
NM_001105206.3(LAMA4):c.2513T>C (p.Phe838Ser)
|
|
|
NM_001105206.3(LAMA4):c.2548A>C (p.Thr850Pro)
|
|
|
NM_001105206.3(LAMA4):c.2564T>C (p.Leu855Ser)
|
|
|
NM_001105206.3(LAMA4):c.2603C>T (p.Pro868Leu)
|
|
|
NM_001105206.3(LAMA4):c.2611C>T (p.Arg871Trp)
|
rs782774293
|
|
NM_001105206.3(LAMA4):c.2641T>C (p.Phe881Leu)
|
|
|
NM_001105206.3(LAMA4):c.2668-5T>G
|
|
|
NM_001105206.3(LAMA4):c.2734A>T (p.Thr912Ser)
|
rs863223684
|
|
NM_001105206.3(LAMA4):c.2740G>C (p.Asp914His)
|
|
|
NM_001105206.3(LAMA4):c.2751T>G (p.Ile917Met)
|
rs1007533169
|
|
NM_001105206.3(LAMA4):c.2780G>C (p.Trp927Ser)
|
|
|
NM_001105206.3(LAMA4):c.2813+5A>G
|
|
|
NM_001105206.3(LAMA4):c.2814G>T (p.Arg938Ser)
|
|
|
NM_001105206.3(LAMA4):c.2832G>T (p.Lys944Asn)
|
rs140978616
|
|
NM_001105206.3(LAMA4):c.283T>C (p.Ser95Pro)
|
|
|
NM_001105206.3(LAMA4):c.2842A>G (p.Thr948Ala)
|
|
|
NM_001105206.3(LAMA4):c.2869G>A (p.Glu957Lys)
|
|
|
NM_001105206.3(LAMA4):c.292T>C (p.Cys98Arg)
|
|
|
NM_001105206.3(LAMA4):c.2938A>G (p.Thr980Ala)
|
|
|
NM_001105206.3(LAMA4):c.295G>A (p.Val99Met)
|
|
|
NM_001105206.3(LAMA4):c.2963C>T (p.Pro988Leu)
|
|
|
NM_001105206.3(LAMA4):c.2986A>G (p.Ser996Gly)
|
|
|
NM_001105206.3(LAMA4):c.2987G>C (p.Ser996Thr)
|
|
|
NM_001105206.3(LAMA4):c.2994C>G (p.Asn998Lys)
|
|
|
NM_001105206.3(LAMA4):c.2995C>G (p.Leu999Val)
|
|
|
NM_001105206.3(LAMA4):c.2996T>C (p.Leu999Pro)
|
|
|
NM_001105206.3(LAMA4):c.3029C>T (p.Thr1010Ile)
|
rs201431614
|
|
NM_001105206.3(LAMA4):c.3059A>G (p.Asn1020Ser)
|
|
|
NM_001105206.3(LAMA4):c.3073T>C (p.Tyr1025His)
|
rs1554332595
|
|
NM_001105206.3(LAMA4):c.307C>G (p.Arg103Gly)
|
rs138176093
|
|
NM_001105206.3(LAMA4):c.307C>T (p.Arg103Trp)
|
rs138176093
|
|
NM_001105206.3(LAMA4):c.308G>A (p.Arg103Gln)
|
rs782029414
|
|
NM_001105206.3(LAMA4):c.3110+3A>G
|
|
|
NM_001105206.3(LAMA4):c.3113A>G (p.Asp1038Gly)
|
|
|
NM_001105206.3(LAMA4):c.3121G>T (p.Ala1041Ser)
|
|
|
NM_001105206.3(LAMA4):c.3124T>A (p.Phe1042Ile)
|
|
|
NM_001105206.3(LAMA4):c.3208G>T (p.Gly1070Cys)
|
|
|
NM_001105206.3(LAMA4):c.320G>A (p.Gly107Glu)
|
|
|
NM_001105206.3(LAMA4):c.3217A>T (p.Thr1073Ser)
|
|
|
NM_001105206.3(LAMA4):c.3221G>A (p.Arg1074His)
|
|
|
NM_001105206.3(LAMA4):c.3231A>G (p.Ile1077Met)
|
|
|
NM_001105206.3(LAMA4):c.3244C>G (p.Pro1082Ala)
|
|
|
NM_001105206.3(LAMA4):c.3263T>G (p.Ile1088Ser)
|
|
|
NM_001105206.3(LAMA4):c.3283-5C>T
|
|
|
NM_001105206.3(LAMA4):c.3304A>G (p.Met1102Val)
|
rs2114675509
|
|
NM_001105206.3(LAMA4):c.3307C>A (p.Arg1103Ser)
|
rs113109272
|
|
NM_001105206.3(LAMA4):c.3317A>G (p.Tyr1106Cys)
|
|
|
NM_001105206.3(LAMA4):c.3325G>A (p.Val1109Met)
|
|
|
NM_001105206.3(LAMA4):c.3374C>T (p.Thr1125Met)
|
|
|
NM_001105206.3(LAMA4):c.3440A>C (p.Lys1147Thr)
|
|
|
NM_001105206.3(LAMA4):c.3467G>A (p.Arg1156Lys)
|
|
|
NM_001105206.3(LAMA4):c.3517A>G (p.Ile1173Val)
|
|
|
NM_001105206.3(LAMA4):c.3541G>A (p.Glu1181Lys)
|
rs958899040
|
|
NM_001105206.3(LAMA4):c.3577C>A (p.Pro1193Thr)
|
|
|
NM_001105206.3(LAMA4):c.3586A>G (p.Ile1196Val)
|
|
|
NM_001105206.3(LAMA4):c.3599G>A (p.Gly1200Glu)
|
|
|
NM_001105206.3(LAMA4):c.359A>G (p.Asp120Gly)
|
|
|
NM_001105206.3(LAMA4):c.3601T>G (p.Cys1201Gly)
|
|
|
NM_001105206.3(LAMA4):c.3639T>G (p.Asn1213Lys)
|
|
|
NM_001105206.3(LAMA4):c.3641T>C (p.Leu1214Ser)
|
|
|
NM_001105206.3(LAMA4):c.3646G>A (p.Glu1216Lys)
|
|
|
NM_001105206.3(LAMA4):c.3697-75_3703dup
|
|
|
NM_001105206.3(LAMA4):c.369G>T (p.Arg123Ser)
|
|
|
NM_001105206.3(LAMA4):c.3704G>A (p.Arg1235His)
|
rs559725422
|
|
NM_001105206.3(LAMA4):c.3704G>C (p.Arg1235Pro)
|
rs559725422
|
|
NM_001105206.3(LAMA4):c.3790C>T (p.Arg1264Ter)
|
|
|
NM_001105206.3(LAMA4):c.3791G>A (p.Arg1264Gln)
|
|
|
NM_001105206.3(LAMA4):c.3800A>C (p.Gln1267Pro)
|
|
|
NM_001105206.3(LAMA4):c.3805A>C (p.Asn1269His)
|
|
|
NM_001105206.3(LAMA4):c.3819C>A (p.Phe1273Leu)
|
rs138232283
|
|
NM_001105206.3(LAMA4):c.3824A>G (p.Tyr1275Cys)
|
|
|
NM_001105206.3(LAMA4):c.3827C>T (p.Ala1276Val)
|
|
|
NM_001105206.3(LAMA4):c.3833G>A (p.Gly1278Glu)
|
|
|
NM_001105206.3(LAMA4):c.3833G>T (p.Gly1278Val)
|
|
|
NM_001105206.3(LAMA4):c.3834+3_3834+6del
|
|
|
NM_001105206.3(LAMA4):c.383T>G (p.Phe128Cys)
|
|
|
NM_001105206.3(LAMA4):c.3848C>T (p.Ser1283Phe)
|
|
|
NM_001105206.3(LAMA4):c.3859G>A (p.Asp1287Asn)
|
|
|
NM_001105206.3(LAMA4):c.3859G>T (p.Asp1287Tyr)
|
|
|
NM_001105206.3(LAMA4):c.386G>T (p.Cys129Phe)
|
|
|
NM_001105206.3(LAMA4):c.3882T>G (p.Asp1294Glu)
|
|
|
NM_001105206.3(LAMA4):c.3917A>C (p.Gln1306Pro)
|
rs1554329570
|
|
NM_001105206.3(LAMA4):c.3980T>C (p.Ile1327Thr)
|
rs376471900
|
|
NM_001105206.3(LAMA4):c.4066G>C (p.Gly1356Arg)
|
rs1268977606
|
|
NM_001105206.3(LAMA4):c.406del (p.Leu136fs)
|
rs782372455
|
|
NM_001105206.3(LAMA4):c.4073C>T (p.Ser1358Leu)
|
|
|
NM_001105206.3(LAMA4):c.410C>T (p.Pro137Leu)
|
|
|
NM_001105206.3(LAMA4):c.4154T>C (p.Val1385Ala)
|
|
|
NM_001105206.3(LAMA4):c.4169G>T (p.Arg1390Leu)
|
|
|
NM_001105206.3(LAMA4):c.4183G>T (p.Val1395Phe)
|
|
|
NM_001105206.3(LAMA4):c.4194del (p.Leu1399fs)
|
|
|
NM_001105206.3(LAMA4):c.4198T>C (p.Tyr1400His)
|
|
|
NM_001105206.3(LAMA4):c.4213G>C (p.Glu1405Gln)
|
|
|
NM_001105206.3(LAMA4):c.422del (p.Asn141fs)
|
|
|
NM_001105206.3(LAMA4):c.4254T>A (p.Asn1418Lys)
|
|
|
NM_001105206.3(LAMA4):c.4255T>G (p.Leu1419Val)
|
rs782225670
|
|
NM_001105206.3(LAMA4):c.4291G>A (p.Gly1431Arg)
|
|
|
NM_001105206.3(LAMA4):c.4324G>A (p.Val1442Ile)
|
|
|
NM_001105206.3(LAMA4):c.4345C>T (p.Arg1449Trp)
|
rs372872387
|
|
NM_001105206.3(LAMA4):c.4391G>C (p.Arg1464Thr)
|
|
|
NM_001105206.3(LAMA4):c.4466T>C (p.Phe1489Ser)
|
|
|
NM_001105206.3(LAMA4):c.449dup (p.Asn150fs)
|
rs1249093492
|
|
NM_001105206.3(LAMA4):c.4513C>A (p.His1505Asn)
|
|
|
NM_001105206.3(LAMA4):c.4514A>G (p.His1505Arg)
|
|
|
NM_001105206.3(LAMA4):c.4562C>T (p.Thr1521Ile)
|
|
|
NM_001105206.3(LAMA4):c.4582C>T (p.Arg1528Cys)
|
|
|
NM_001105206.3(LAMA4):c.4583G>A (p.Arg1528His)
|
rs782805733
|
|
NM_001105206.3(LAMA4):c.458T>C (p.Val153Ala)
|
|
|
NM_001105206.3(LAMA4):c.4622A>C (p.Lys1541Thr)
|
|
|
NM_001105206.3(LAMA4):c.4624A>T (p.Ile1542Phe)
|
|
|
NM_001105206.3(LAMA4):c.4630A>T (p.Ser1544Cys)
|
|
|
NM_001105206.3(LAMA4):c.4646A>T (p.Asn1549Ile)
|
rs12110554
|
|
NM_001105206.3(LAMA4):c.4648G>A (p.Asp1550Asn)
|
|
|
NM_001105206.3(LAMA4):c.4648del (p.Asp1550fs)
|
|
|
NM_001105206.3(LAMA4):c.4652G>A (p.Gly1551Asp)
|
|
|
NM_001105206.3(LAMA4):c.4663G>C (p.Asp1555His)
|
|
|
NM_001105206.3(LAMA4):c.4663G>T (p.Asp1555Tyr)
|
rs1424002749
|
|
NM_001105206.3(LAMA4):c.4665+2T>A
|
|
|
NM_001105206.3(LAMA4):c.4666-3C>T
|
|
|
NM_001105206.3(LAMA4):c.4697G>A (p.Arg1566Gln)
|
|
|
NM_001105206.3(LAMA4):c.4706T>C (p.Ile1569Thr)
|
|
|
NM_001105206.3(LAMA4):c.4718G>A (p.Arg1573Gln)
|
|
|
NM_001105206.3(LAMA4):c.4733G>C (p.Ser1578Thr)
|
|
|
NM_001105206.3(LAMA4):c.4751C>T (p.Ala1584Val)
|
|
|
NM_001105206.3(LAMA4):c.4768G>A (p.Gly1590Ser)
|
|
|
NM_001105206.3(LAMA4):c.4781T>C (p.Leu1594Ser)
|
|
|
NM_001105206.3(LAMA4):c.4814dup (p.Asn1605fs)
|
|
|
NM_001105206.3(LAMA4):c.4827C>G (p.Asn1609Lys)
|
|
|
NM_001105206.3(LAMA4):c.4840T>G (p.Phe1614Val)
|
|
|
NM_001105206.3(LAMA4):c.4865A>G (p.Gln1622Arg)
|
|
|
NM_001105206.3(LAMA4):c.4867C>T (p.Leu1623Phe)
|
|
|
NM_001105206.3(LAMA4):c.4871A>G (p.Asn1624Ser)
|
rs1554324498
|
|
NM_001105206.3(LAMA4):c.4880C>T (p.Ser1627Phe)
|
|
|
NM_001105206.3(LAMA4):c.4940C>T (p.Thr1647Ile)
|
|
|
NM_001105206.3(LAMA4):c.494A>T (p.Asn165Ile)
|
|
|
NM_001105206.3(LAMA4):c.4957A>C (p.Thr1653Pro)
|
|
|
NM_001105206.3(LAMA4):c.4967G>A (p.Gly1656Glu)
|
rs41289900
|
|
NM_001105206.3(LAMA4):c.4984G>C (p.Glu1662Gln)
|
|
|
NM_001105206.3(LAMA4):c.5002T>G (p.Leu1668Val)
|
|
|
NM_001105206.3(LAMA4):c.5007G>C (p.Lys1669Asn)
|
|
|
NM_001105206.3(LAMA4):c.5021T>G (p.Phe1674Cys)
|
rs1209180229
|
|
NM_001105206.3(LAMA4):c.5080G>A (p.Glu1694Lys)
|
|
|
NM_001105206.3(LAMA4):c.5098A>G (p.Met1700Val)
|
|
|
NM_001105206.3(LAMA4):c.5110C>G (p.Gln1704Glu)
|
|
|
NM_001105206.3(LAMA4):c.5112+4G>A
|
|
|
NM_001105206.3(LAMA4):c.5117T>C (p.Ile1706Thr)
|
|
|
NM_001105206.3(LAMA4):c.5119G>A (p.Val1707Met)
|
|
|
NM_001105206.3(LAMA4):c.5138T>C (p.Ile1713Thr)
|
|
|
NM_001105206.3(LAMA4):c.5158G>A (p.Val1720Ile)
|
|
|
NM_001105206.3(LAMA4):c.5158_5159delinsAA (p.Val1720Asn)
|
|
|
NM_001105206.3(LAMA4):c.5159T>A (p.Val1720Asp)
|
|
|
NM_001105206.3(LAMA4):c.5194C>T (p.His1732Tyr)
|
rs2114556643
|
|
NM_001105206.3(LAMA4):c.5215G>A (p.Asp1739Asn)
|
|
|
NM_001105206.3(LAMA4):c.5219C>T (p.Ser1740Phe)
|
|
|
NM_001105206.3(LAMA4):c.5309T>C (p.Phe1770Ser)
|
rs782498118
|
|
NM_001105206.3(LAMA4):c.530C>T (p.Pro177Leu)
|
|
|
NM_001105206.3(LAMA4):c.5311G>T (p.Val1771Phe)
|
|
|
NM_001105206.3(LAMA4):c.5317G>A (p.Gly1773Ser)
|
|
|
NM_001105206.3(LAMA4):c.5318G>A (p.Gly1773Asp)
|
|
|
NM_001105206.3(LAMA4):c.5326+5G>T
|
|
|
NM_001105206.3(LAMA4):c.5341C>T (p.Pro1781Ser)
|
|
|
NM_001105206.3(LAMA4):c.5375G>A (p.Cys1792Tyr)
|
|
|
NM_001105206.3(LAMA4):c.5380C>A (p.Arg1794Ser)
|
|
|
NM_001105206.3(LAMA4):c.5393T>G (p.Ile1798Ser)
|
rs377204776
|
|
NM_001105206.3(LAMA4):c.5396A>T (p.Asp1799Val)
|
|
|
NM_001105206.3(LAMA4):c.5405C>A (p.Pro1802Gln)
|
rs886039017
|
|
NM_001105206.3(LAMA4):c.5448C>A (p.Ser1816Arg)
|
|
|
NM_001105206.3(LAMA4):c.5456C>T (p.Ser1819Phe)
|
|
|
NM_001105206.3(LAMA4):c.5461C>T (p.Pro1821Ser)
|
|
|
NM_001105206.3(LAMA4):c.550T>C (p.Cys184Arg)
|
rs759487426
|
|
NM_001105206.3(LAMA4):c.577T>G (p.Ser193Ala)
|
|
|
NM_001105206.3(LAMA4):c.57_59dup (p.Ala20dup)
|
rs1284404549
|
|
NM_001105206.3(LAMA4):c.587A>G (p.Asn196Ser)
|
|
|
NM_001105206.3(LAMA4):c.605G>A (p.Cys202Tyr)
|
|
|
NM_001105206.3(LAMA4):c.619G>A (p.Gly207Ser)
|
|
|
NM_001105206.3(LAMA4):c.64T>C (p.Ser22Pro)
|
|
|
NM_001105206.3(LAMA4):c.673G>A (p.Ala225Thr)
|
rs782121531
|
|
NM_001105206.3(LAMA4):c.67C>T (p.Arg23Cys)
|
|
|
NM_001105206.3(LAMA4):c.718+5A>G
|
|
|
NM_001105206.3(LAMA4):c.769G>C (p.Glu257Gln)
|
|
|
NM_001105206.3(LAMA4):c.770AAG[1] (p.Glu258del)
|
|
|
NM_001105206.3(LAMA4):c.795C>A (p.Gly265=)
|
rs1484189768
|
|
NM_001105206.3(LAMA4):c.824A>C (p.Lys275Thr)
|
|
|
NM_001105206.3(LAMA4):c.829G>T (p.Val277Phe)
|
rs146225813
|
|
NM_001105206.3(LAMA4):c.82G>A (p.Asp28Asn)
|
|
|
NM_001105206.3(LAMA4):c.82GAC[1] (p.Asp29del)
|
rs781840950
|
|
NM_001105206.3(LAMA4):c.854G>A (p.Arg285Gln)
|
|
|
NM_001105206.3(LAMA4):c.868T>G (p.Ser290Ala)
|
rs782433369
|
|
NM_001105206.3(LAMA4):c.892G>A (p.Val298Met)
|
rs927160835
|
|
NM_001105206.3(LAMA4):c.898_900del (p.Ser300del)
|
rs1782760091
|
|
NM_001105206.3(LAMA4):c.900C>A (p.Ser300Arg)
|
|
|
NM_001105206.3(LAMA4):c.919G>A (p.Ala307Thr)
|
|
|
NM_001105206.3(LAMA4):c.931G>A (p.Val311Met)
|
|
|
NM_001105206.3(LAMA4):c.953T>C (p.Ile318Thr)
|
|
|
NM_001105206.3(LAMA4):c.966+4C>G
|
|
|
NM_001105206.3(LAMA4):c.967-5T>G
|
rs863223692
|
|
NM_001114753.3(ENG):c.1064T>C (p.Leu355Pro)
|
|
|
NM_001114753.3(ENG):c.1145G>A (p.Cys382Tyr)
|
rs1131691931
|
|
NM_001114753.3(ENG):c.1148C>G (p.Thr383Ser)
|
|
|
NM_001114753.3(ENG):c.1151T>G (p.Ile384Ser)
|
|
|
NM_001114753.3(ENG):c.1211T>C (p.Val404Ala)
|
|
|
NM_001114753.3(ENG):c.1214_1219del (p.Leu405_Ser407delinsCys)
|
|
|
NM_001114753.3(ENG):c.1251_1260delinsTTAC (p.Ala418_Met420delinsTyr)
|
|
|
NM_001114753.3(ENG):c.1274C>A (p.Ala425Glu)
|
rs369997021
|
|
NM_001114753.3(ENG):c.1331A>G (p.Asn444Ser)
|
|
|
NM_001114753.3(ENG):c.1429-5T>G
|
|
|
NM_001114753.3(ENG):c.154G>C (p.Gly52Arg)
|
|
|
NM_001114753.3(ENG):c.1643_1653delinsCCGCAGCT (p.Ser548_Val551delinsThrAlaAla)
|
|
|
NM_001114753.3(ENG):c.1655C>T (p.Ala552Val)
|
|
|
NM_001114753.3(ENG):c.1718A>T (p.Asn573Ile)
|
|
|
NM_001114753.3(ENG):c.1807G>A (p.Gly603Arg)
|
rs1830302008
|
|
NM_001114753.3(ENG):c.1883C>T (p.Ala628Val)
|
|
|
NM_001114753.3(ENG):c.1900T>G (p.Ser634Ala)
|
|
|
NM_001114753.3(ENG):c.1904C>T (p.Ser635Leu)
|
|
|
NM_001114753.3(ENG):c.239T>A (p.Leu80Gln)
|
|
|
NM_001114753.3(ENG):c.249G>T (p.Gln83His)
|
|
|
NM_001114753.3(ENG):c.293T>A (p.Val98Asp)
|
rs1830715947
|
|
NM_001114753.3(ENG):c.35T>C (p.Leu12Pro)
|
rs1829096574
|
|
NM_001114753.3(ENG):c.493C>G (p.Pro165Ala)
|
|
|
NM_001114753.3(ENG):c.502A>T (p.Ile168Phe)
|
|
|
NM_001114753.3(ENG):c.565G>A (p.Asp189Asn)
|
rs147792018
|
|
NM_001114753.3(ENG):c.582_584del (p.Glu195del)
|
|
|
NM_001114753.3(ENG):c.707T>A (p.Val236Glu)
|
rs1588582073
|
|
NM_001114753.3(ENG):c.707T>C (p.Val236Ala)
|
|
|
NM_001114753.3(ENG):c.713T>A (p.Val238Glu)
|
rs1060501415
|
|
NM_001114753.3(ENG):c.752T>A (p.Leu251His)
|
|
|
NM_001114753.3(ENG):c.764G>T (p.Gly255Val)
|
rs2131887828
|
|
NM_001114753.3(ENG):c.806T>A (p.Met269Lys)
|
rs752331196
|
|
NM_001114753.3(ENG):c.89G>A (p.Cys30Tyr)
|
|
|
NM_001114753.3(ENG):c.908C>A (p.Ala303Asp)
|
|
|
NM_001114753.3(ENG):c.920A>T (p.Asn307Ile)
|
|
|
NM_001114753.3(ENG):c.992-3C>G
|
rs1830552318
|
|
NM_001114753.3(ENG):c.992-5C>G
|
|
|
NM_001134363.3(RBM20):c.-1C>T
|
|
|
NM_001134363.3(RBM20):c.-2G>T
|
|
|
NM_001134363.3(RBM20):c.104C>G (p.Pro35Arg)
|
rs2134792790
|
|
NM_001134363.3(RBM20):c.1051G>C (p.Asp351His)
|
rs372999896
|
|
NM_001134363.3(RBM20):c.1060G>C (p.Glu354Gln)
|
|
|
NM_001134363.3(RBM20):c.1063C>A (p.Pro355Thr)
|
|
|
NM_001134363.3(RBM20):c.1072G>A (p.Asp358Asn)
|
|
|
NM_001134363.3(RBM20):c.1079C>T (p.Thr360Ile)
|
rs1477743309
|
|
NM_001134363.3(RBM20):c.1096G>T (p.Gly366Cys)
|
|
|
NM_001134363.3(RBM20):c.1099C>T (p.Arg367Trp)
|
|
|
NM_001134363.3(RBM20):c.1118A>G (p.Gln373Arg)
|
|
|
NM_001134363.3(RBM20):c.1144G>T (p.Ala382Ser)
|
|
|
NM_001134363.3(RBM20):c.1178C>T (p.Pro393Leu)
|
|
|
NM_001134363.3(RBM20):c.1222dup (p.Leu408fs)
|
rs1564844428
|
|
NM_001134363.3(RBM20):c.124C>T (p.Gln42Ter)
|
|
|
NM_001134363.3(RBM20):c.1263G>A (p.Val421=)
|
rs1844357538
|
|
NM_001134363.3(RBM20):c.1289A>C (p.His430Pro)
|
|
|
NM_001134363.3(RBM20):c.128A>C (p.Gln43Pro)
|
rs886046698
|
|
NM_001134363.3(RBM20):c.1319G>C (p.Cys440Ser)
|
|
|
NM_001134363.3(RBM20):c.1332del (p.Glu445fs)
|
|
|
NM_001134363.3(RBM20):c.1357C>G (p.Leu453Val)
|
|
|
NM_001134363.3(RBM20):c.1358T>C (p.Leu453Pro)
|
|
|
NM_001134363.3(RBM20):c.1361G>T (p.Gly454Val)
|
|
|
NM_001134363.3(RBM20):c.1417G>A (p.Ala473Thr)
|
|
|
NM_001134363.3(RBM20):c.141_161del (p.Pro48_Pro54del)
|
rs1286990478
|
|
NM_001134363.3(RBM20):c.141_161dup (p.Pro48_Pro54dup)
|
rs1286990478
|
|
NM_001134363.3(RBM20):c.1487A>T (p.Gln496Leu)
|
|
|
NM_001134363.3(RBM20):c.1527+1G>A
|
|
|
NM_001134363.3(RBM20):c.1543G>A (p.Gly515Arg)
|
rs1235212712
|
|
NM_001134363.3(RBM20):c.1558G>A (p.Val520Met)
|
rs1844567016
|
|
NM_001134363.3(RBM20):c.1603G>C (p.Val535Leu)
|
|
|
NM_001134363.3(RBM20):c.1603G>T (p.Val535Phe)
|
|
|
NM_001134363.3(RBM20):c.160C>T (p.Pro54Ser)
|
|
|
NM_001134363.3(RBM20):c.1682T>C (p.Met561Thr)
|
rs999297099
|
|
NM_001134363.3(RBM20):c.1727A>G (p.Glu576Gly)
|
|
|
NM_001134363.3(RBM20):c.1738G>A (p.Val580Met)
|
|
|
NM_001134363.3(RBM20):c.1745A>T (p.Asn582Ile)
|
|
|
NM_001134363.3(RBM20):c.1766G>T (p.Arg589Leu)
|
|
|
NM_001134363.3(RBM20):c.1769T>G (p.Met590Arg)
|
rs794729147
|
|
NM_001134363.3(RBM20):c.1800+1G>A
|
rs1060503414
|
|
NM_001134363.3(RBM20):c.1831C>T (p.Gln611Ter)
|
|
|
NM_001134363.3(RBM20):c.1866C>G (p.Phe622Leu)
|
|
|
NM_001134363.3(RBM20):c.1879A>G (p.Arg627Gly)
|
|
|
NM_001134363.3(RBM20):c.1881-2A>G
|
|
|
NM_001134363.3(RBM20):c.1911T>G (p.Ser637Arg)
|
|
|
NM_001134363.3(RBM20):c.1912C>G (p.Pro638Ala)
|
|
|
NM_001134363.3(RBM20):c.1913C>G (p.Pro638Arg)
|
rs267607003
|
|
NM_001134363.3(RBM20):c.1915G>A (p.Val639Met)
|
rs1844778442
|
|
NM_001134363.3(RBM20):c.1969T>A (p.Ser657Thr)
|
|
|
NM_001134363.3(RBM20):c.1970C>G (p.Ser657Cys)
|
|
|
NM_001134363.3(RBM20):c.1994C>G (p.Ser665Cys)
|
|
|
NM_001134363.3(RBM20):c.1994C>T (p.Ser665Phe)
|
|
|
NM_001134363.3(RBM20):c.1997G>A (p.Arg666Gln)
|
|
|
NM_001134363.3(RBM20):c.2004C>A (p.Asp668Glu)
|
rs749563704
|
|
NM_001134363.3(RBM20):c.2031G>T (p.Glu677Asp)
|
|
|
NM_001134363.3(RBM20):c.2041T>C (p.Tyr681His)
|
rs1257262328
|
|
NM_001134363.3(RBM20):c.2045C>G (p.Ala682Gly)
|
|
|
NM_001134363.3(RBM20):c.2051G>T (p.Arg684Met)
|
|
|
NM_001134363.3(RBM20):c.2071G>A (p.Ala691Thr)
|
|
|
NM_001134363.3(RBM20):c.2075C>T (p.Pro692Leu)
|
|
|
NM_001134363.3(RBM20):c.20T>C (p.Met7Thr)
|
|
|
NM_001134363.3(RBM20):c.2115C>A (p.Asp705Glu)
|
|
|
NM_001134363.3(RBM20):c.2216G>T (p.Arg739Ile)
|
|
|
NM_001134363.3(RBM20):c.2255A>G (p.Tyr752Cys)
|
|
|
NM_001134363.3(RBM20):c.2263C>G (p.Arg755Gly)
|
|
|
NM_001134363.3(RBM20):c.2264G>T (p.Arg755Leu)
|
|
|
NM_001134363.3(RBM20):c.2306A>G (p.Asp769Gly)
|
|
|
NM_001134363.3(RBM20):c.2324_2358del (p.Gln775fs)
|
rs1554842773
|
|
NM_001134363.3(RBM20):c.2338G>T (p.Gly780Trp)
|
rs750988872
|
|
NM_001134363.3(RBM20):c.2339G>A (p.Gly780Glu)
|
|
|
NM_001134363.3(RBM20):c.2362G>T (p.Ala788Ser)
|
rs765544509
|
|
NM_001134363.3(RBM20):c.237_298del (p.Asn80fs)
|
rs1554898759
|
|
NM_001134363.3(RBM20):c.2381G>A (p.Arg794Lys)
|
|
|
NM_001134363.3(RBM20):c.2385C>A (p.His795Gln)
|
rs781166982
|
|
NM_001134363.3(RBM20):c.2395G>T (p.Asp799Tyr)
|
|
|
NM_001134363.3(RBM20):c.2396A>T (p.Asp799Val)
|
|
|
NM_001134363.3(RBM20):c.2398G>A (p.Asp800Asn)
|
|
|
NM_001134363.3(RBM20):c.2416G>A (p.Gly806Arg)
|
|
|
NM_001134363.3(RBM20):c.2450G>A (p.Gly817Asp)
|
|
|
NM_001134363.3(RBM20):c.2500G>C (p.Asp834His)
|
|
|
NM_001134363.3(RBM20):c.2504AAG[1] (p.Glu836del)
|
rs1554842819
|
|
NM_001134363.3(RBM20):c.2513C>A (p.Ala838Asp)
|
|
|
NM_001134363.3(RBM20):c.2540C>T (p.Ala847Val)
|
rs1844794673
|
|
NM_001134363.3(RBM20):c.257C>T (p.Pro86Leu)
|
|
|
NM_001134363.3(RBM20):c.2600del (p.Gly867fs)
|
|
|
NM_001134363.3(RBM20):c.2612AAG[1] (p.Glu872del)
|
rs1236064535
|
|
NM_001134363.3(RBM20):c.2667G>A (p.Trp889Ter)
|
|
|
NM_001134363.3(RBM20):c.2694G>C (p.Glu898Asp)
|
|
|
NM_001134363.3(RBM20):c.2719G>A (p.Glu907Lys)
|
rs1564664325
|
|
NM_001134363.3(RBM20):c.2719G>T (p.Glu907Ter)
|
|
|
NM_001134363.3(RBM20):c.2723T>C (p.Leu908Pro)
|
rs397516604
|
|
NM_001134363.3(RBM20):c.2741T>C (p.Val914Ala)
|
rs794729154
|
|
NM_001134363.3(RBM20):c.2748AGA[2] (p.Glu918del)
|
rs765389992
|
|
NM_001134363.3(RBM20):c.2749G>C (p.Glu917Gln)
|
rs1844907124
|
|
NM_001134363.3(RBM20):c.2752G>A (p.Glu918Lys)
|
|
|
NM_001134363.3(RBM20):c.2764G>T (p.Val922Leu)
|
rs947100716
|
|
NM_001134363.3(RBM20):c.2843G>A (p.Cys948Tyr)
|
|
|
NM_001134363.3(RBM20):c.2860G>C (p.Asp954His)
|
rs1554843534
|
|
NM_001134363.3(RBM20):c.2905G>T (p.Val969Leu)
|
rs369747752
|
|
NM_001134363.3(RBM20):c.2912A>G (p.Asn971Ser)
|
|
|
NM_001134363.3(RBM20):c.2920G>A (p.Ala974Thr)
|
|
|
NM_001134363.3(RBM20):c.2941C>G (p.Pro981Ala)
|
|
|
NM_001134363.3(RBM20):c.2945G>T (p.Arg982Ile)
|
rs1387852539
|
|
NM_001134363.3(RBM20):c.2984T>C (p.Met995Thr)
|
|
|
NM_001134363.3(RBM20):c.2989G>A (p.Val997Met)
|
rs372370653
|
|
NM_001134363.3(RBM20):c.2989G>T (p.Val997Leu)
|
rs372370653
|
|
NM_001134363.3(RBM20):c.3015T>G (p.Asp1005Glu)
|
|
|
NM_001134363.3(RBM20):c.3019G>A (p.Glu1007Lys)
|
|
|
NM_001134363.3(RBM20):c.302A>G (p.His101Arg)
|
|
|
NM_001134363.3(RBM20):c.3047G>A (p.Gly1016Asp)
|
rs540014314
|
|
NM_001134363.3(RBM20):c.3088A>C (p.Lys1030Gln)
|
|
|
NM_001134363.3(RBM20):c.3091G>T (p.Gly1031Ter)
|
rs794729157
|
|
NM_001134363.3(RBM20):c.3155C>T (p.Ala1052Val)
|
rs1276115385
|
|
NM_001134363.3(RBM20):c.3169C>G (p.Arg1057Gly)
|
rs199830512
|
|
NM_001134363.3(RBM20):c.317C>T (p.Ala106Val)
|
|
|
NM_001134363.3(RBM20):c.3190G>T (p.Asp1064Tyr)
|
|
|
NM_001134363.3(RBM20):c.3201G>T (p.Lys1067Asn)
|
|
|
NM_001134363.3(RBM20):c.3218A>C (p.Glu1073Ala)
|
|
|
NM_001134363.3(RBM20):c.3261_3262delinsG (p.Ser1087fs)
|
rs727504763
|
|
NM_001134363.3(RBM20):c.3266C>A (p.Pro1089His)
|
rs772708424
|
|
NM_001134363.3(RBM20):c.3269T>A (p.Ile1090Asn)
|
|
|
NM_001134363.3(RBM20):c.3280C>G (p.Leu1094Val)
|
|
|
NM_001134363.3(RBM20):c.3283C>T (p.Gln1095Ter)
|
|
|
NM_001134363.3(RBM20):c.3304G>T (p.Val1102Leu)
|
|
|
NM_001134363.3(RBM20):c.3339G>A (p.Met1113Ile)
|
|
|
NM_001134363.3(RBM20):c.338A>C (p.Asn113Thr)
|
|
|
NM_001134363.3(RBM20):c.3395T>G (p.Leu1132Arg)
|
|
|
NM_001134363.3(RBM20):c.3422A>T (p.Asp1141Val)
|
|
|
NM_001134363.3(RBM20):c.3485A>G (p.Tyr1162Cys)
|
|
|
NM_001134363.3(RBM20):c.3488G>A (p.Cys1163Tyr)
|
|
|
NM_001134363.3(RBM20):c.348del (p.Ala117fs)
|
|
|
NM_001134363.3(RBM20):c.3512C>A (p.Thr1171Lys)
|
rs371181124
|
|
NM_001134363.3(RBM20):c.3517G>A (p.Glu1173Lys)
|
rs542297252
|
|
NM_001134363.3(RBM20):c.353C>T (p.Thr118Ile)
|
rs2135041252
|
|
NM_001134363.3(RBM20):c.3557A>G (p.His1186Arg)
|
rs1845047234
|
|
NM_001134363.3(RBM20):c.3564G>C (p.Arg1188Ser)
|
rs1060503416
|
|
NM_001134363.3(RBM20):c.3566A>T (p.Asn1189Ile)
|
|
|
NM_001134363.3(RBM20):c.3666C>G (p.Phe1222Leu)
|
|
|
NM_001134363.3(RBM20):c.369C>A (p.Val123=)
|
|
|
NM_001134363.3(RBM20):c.380T>C (p.Val127Ala)
|
|
|
NM_001134363.3(RBM20):c.419C>A (p.Pro140Gln)
|
|
|
NM_001134363.3(RBM20):c.452G>A (p.Gly151Glu)
|
|
|
NM_001134363.3(RBM20):c.465TGC[1] (p.Ala158del)
|
rs1231520936
|
|
NM_001134363.3(RBM20):c.490T>G (p.Phe164Val)
|
|
|
NM_001134363.3(RBM20):c.505A>G (p.Ile169Val)
|
rs2135041793
|
|
NM_001134363.3(RBM20):c.508G>A (p.Ala170Thr)
|
|
|
NM_001134363.3(RBM20):c.521C>G (p.Pro174Arg)
|
|
|
NM_001134363.3(RBM20):c.522dup (p.Ser175fs)
|
|
|
NM_001134363.3(RBM20):c.533G>C (p.Arg178Pro)
|
rs561085365
|
|
NM_001134363.3(RBM20):c.536_537delinsTT (p.Gly179Val)
|
rs2135041998
|
|
NM_001134363.3(RBM20):c.551T>C (p.Met184Thr)
|
rs2135042080
|
|
NM_001134363.3(RBM20):c.578C>G (p.Ala193Gly)
|
|
|
NM_001134363.3(RBM20):c.586A>T (p.Met196Leu)
|
|
|
NM_001134363.3(RBM20):c.632C>T (p.Ala211Val)
|
|
|
NM_001134363.3(RBM20):c.68C>G (p.Ala23Gly)
|
|
|
NM_001134363.3(RBM20):c.700G>A (p.Ala234Thr)
|
rs1554898862
|
|
NM_001134363.3(RBM20):c.743C>T (p.Pro248Leu)
|
|
|
NM_001134363.3(RBM20):c.767C>T (p.Ser256Leu)
|
|
|
NM_001134363.3(RBM20):c.776G>A (p.Gly259Asp)
|
|
|
NM_001134363.3(RBM20):c.807C>G (p.His269Gln)
|
|
|
NM_001134363.3(RBM20):c.80C>A (p.Pro27His)
|
|
|
NM_001134363.3(RBM20):c.820G>A (p.Gly274Ser)
|
|
|
NM_001134363.3(RBM20):c.843T>A (p.Asp281Glu)
|
|
|
NM_001134363.3(RBM20):c.844T>G (p.Phe282Val)
|
rs2135043456
|
|
NM_001134363.3(RBM20):c.88C>G (p.Arg30Gly)
|
|
|
NM_001134363.3(RBM20):c.929C>T (p.Pro310Leu)
|
|
|
NM_001134363.3(RBM20):c.973T>C (p.Phe325Leu)
|
|
|
NM_001134363.3(RBM20):c.98del (p.Pro33fs)
|
rs1413443268
|
|
NM_001148.6(ANK2):c.1003C>T (p.Pro335Ser)
|
|
|
NM_001148.6(ANK2):c.10117G>A (p.Ala3373Thr)
|
|
|
NM_001148.6(ANK2):c.10210C>T (p.Pro3404Ser)
|
|
|
NM_001148.6(ANK2):c.10223G>T (p.Arg3408Leu)
|
|
|
NM_001148.6(ANK2):c.10250G>A (p.Ser3417Asn)
|
|
|
NM_001148.6(ANK2):c.10259G>A (p.Arg3420Lys)
|
|
|
NM_001148.6(ANK2):c.10294G>T (p.Ala3432Ser)
|
rs1564065329
|
|
NM_001148.6(ANK2):c.10310T>C (p.Ile3437Thr)
|
rs886039169
|
|
NM_001148.6(ANK2):c.10375C>G (p.Pro3459Ala)
|
rs761631834
|
|
NM_001148.6(ANK2):c.10396C>T (p.His3466Tyr)
|
|
|
NM_001148.6(ANK2):c.10439A>G (p.Glu3480Gly)
|
|
|
NM_001148.6(ANK2):c.10529C>T (p.Ala3510Val)
|
|
|
NM_001148.6(ANK2):c.10685C>T (p.Pro3562Leu)
|
rs779374859
|
|
NM_001148.6(ANK2):c.10697A>C (p.Gln3566Pro)
|
|
|
NM_001148.6(ANK2):c.10742G>A (p.Gly3581Asp)
|
|
|
NM_001148.6(ANK2):c.10787A>T (p.Glu3596Val)
|
|
|
NM_001148.6(ANK2):c.10797T>A (p.His3599Gln)
|
|
|
NM_001148.6(ANK2):c.10820A>G (p.Asn3607Ser)
|
rs367788127
|
|
NM_001148.6(ANK2):c.10854G>C (p.Lys3618Asn)
|
|
|
NM_001148.6(ANK2):c.10877A>C (p.Lys3626Thr)
|
|
|
NM_001148.6(ANK2):c.10931A>G (p.Asp3644Gly)
|
rs997833950
|
|
NM_001148.6(ANK2):c.10996G>A (p.Glu3666Lys)
|
|
|
NM_001148.6(ANK2):c.11009C>T (p.Thr3670Ile)
|
rs45608232
|
|
NM_001148.6(ANK2):c.11015C>T (p.Thr3672Ile)
|
|
|
NM_001148.6(ANK2):c.11017C>G (p.Leu3673Val)
|
|
|
NM_001148.6(ANK2):c.11056T>G (p.Leu3686Val)
|
|
|
NM_001148.6(ANK2):c.11086G>C (p.Glu3696Gln)
|
|
|
NM_001148.6(ANK2):c.11105A>G (p.Glu3702Gly)
|
|
|
NM_001148.6(ANK2):c.11110G>A (p.Glu3704Lys)
|
|
|
NM_001148.6(ANK2):c.11131A>G (p.Ile3711Val)
|
|
|
NM_001148.6(ANK2):c.11171T>G (p.Phe3724Cys)
|
|
|
NM_001148.6(ANK2):c.11182G>C (p.Val3728Leu)
|
|
|
NM_001148.6(ANK2):c.11229A>C (p.Gln3743His)
|
|
|
NM_001148.6(ANK2):c.11229A>T (p.Gln3743His)
|
rs786205738
|
|
NM_001148.6(ANK2):c.11242C>A (p.Gln3748Lys)
|
|
|
NM_001148.6(ANK2):c.11271G>A (p.Met3757Ile)
|
|
|
NM_001148.6(ANK2):c.11308C>A (p.Gln3770Lys)
|
|
|
NM_001148.6(ANK2):c.11321T>C (p.Val3774Ala)
|
|
|
NM_001148.6(ANK2):c.11324C>T (p.Thr3775Ile)
|
|
|
NM_001148.6(ANK2):c.1136G>A (p.Arg379His)
|
rs186264035
|
|
NM_001148.6(ANK2):c.11383A>T (p.Ser3795Cys)
|
|
|
NM_001148.6(ANK2):c.11392C>G (p.Pro3798Ala)
|
|
|
NM_001148.6(ANK2):c.113C>T (p.Ala38Val)
|
rs2098116035
|
|
NM_001148.6(ANK2):c.11418G>C (p.Glu3806Asp)
|
|
|
NM_001148.6(ANK2):c.11455G>A (p.Glu3819Lys)
|
|
|
NM_001148.6(ANK2):c.11458C>T (p.Arg3820Trp)
|
|
|
NM_001148.6(ANK2):c.11509G>C (p.Glu3837Gln)
|
rs766615247
|
|
NM_001148.6(ANK2):c.11537T>A (p.Leu3846His)
|
|
|
NM_001148.6(ANK2):c.11567C>A (p.Pro3856His)
|
rs1290892227
|
|
NM_001148.6(ANK2):c.11587G>A (p.Asp3863Asn)
|
rs886039041
|
|
NM_001148.6(ANK2):c.11612G>A (p.Gly3871Glu)
|
|
|
NM_001148.6(ANK2):c.11632C>T (p.Pro3878Ser)
|
|
|
NM_001148.6(ANK2):c.11636C>T (p.Pro3879Leu)
|
|
|
NM_001148.6(ANK2):c.11639A>G (p.Glu3880Gly)
|
|
|
NM_001148.6(ANK2):c.1163G>T (p.Arg388Ile)
|
|
|
NM_001148.6(ANK2):c.11693A>T (p.Lys3898Met)
|
|
|
NM_001148.6(ANK2):c.11706A>C (p.Lys3902Asn)
|
|
|
NM_001148.6(ANK2):c.11720A>C (p.Tyr3907Ser)
|
|
|
NM_001148.6(ANK2):c.11736C>T (p.Gly3912=)
|
|
|
NM_001148.6(ANK2):c.11765G>A (p.Gly3922Glu)
|
|
|
NM_001148.6(ANK2):c.11800del (p.Asp3934fs)
|
|
|
NM_001148.6(ANK2):c.11807A>C (p.Tyr3936Ser)
|
|
|
NM_001148.6(ANK2):c.11807A>G (p.Tyr3936Cys)
|
rs377555678
|
|
NM_001148.6(ANK2):c.11813A>C (p.Lys3938Thr)
|
rs568549084
|
|
NM_001148.6(ANK2):c.11840G>A (p.Ser3947Asn)
|
|
|
NM_001148.6(ANK2):c.11859+2T>C
|
|
|
NM_001148.6(ANK2):c.11859+2T>G
|
|
|
NM_001148.6(ANK2):c.11863A>G (p.Asn3955Asp)
|
rs1060501165
|
|
NM_001148.6(ANK2):c.11866A>G (p.Asn3956Asp)
|
|
|
NM_001148.6(ANK2):c.1228C>T (p.Arg410Cys)
|
|
|
NM_001148.6(ANK2):c.1294C>T (p.Leu432Phe)
|
rs144113099
|
|
NM_001148.6(ANK2):c.1297A>G (p.Thr433Ala)
|
|
|
NM_001148.6(ANK2):c.1360G>A (p.Gly454Arg)
|
|
|
NM_001148.6(ANK2):c.1364C>A (p.Ala455Asp)
|
rs1305931806
|
|
NM_001148.6(ANK2):c.1375G>A (p.Val459Ile)
|
|
|
NM_001148.6(ANK2):c.1378A>G (p.Thr460Ala)
|
rs368129159
|
|
NM_001148.6(ANK2):c.1414G>A (p.Ala472Thr)
|
|
|
NM_001148.6(ANK2):c.1418G>A (p.Arg473Gln)
|
|
|
NM_001148.6(ANK2):c.1442G>A (p.Arg481Gln)
|
rs2055114546
|
|
NM_001148.6(ANK2):c.1444T>C (p.Cys482Arg)
|
|
|
NM_001148.6(ANK2):c.1460G>A (p.Gly487Asp)
|
|
|
NM_001148.6(ANK2):c.1525A>G (p.Lys509Glu)
|
|
|
NM_001148.6(ANK2):c.1588G>A (p.Gly530Arg)
|
|
|
NM_001148.6(ANK2):c.1682A>G (p.Lys561Arg)
|
|
|
NM_001148.6(ANK2):c.1705G>A (p.Val569Ile)
|
|
|
NM_001148.6(ANK2):c.1733T>C (p.Val578Ala)
|
|
|
NM_001148.6(ANK2):c.1735G>A (p.Ala579Thr)
|
|
|
NM_001148.6(ANK2):c.1742T>A (p.Leu581His)
|
|
|
NM_001148.6(ANK2):c.1753C>T (p.Arg585Cys)
|
|
|
NM_001148.6(ANK2):c.1754G>T (p.Arg585Leu)
|
|
|
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.1783-3C>T
|
rs1554403492
|
|
NM_001148.6(ANK2):c.1790T>G (p.Leu597Arg)
|
|
|
NM_001148.6(ANK2):c.1801C>A (p.His601Asn)
|
|
|
NM_001148.6(ANK2):c.186+5G>T
|
|
|
NM_001148.6(ANK2):c.187-8TC[2]
|
rs1060501160
|
|
NM_001148.6(ANK2):c.1874C>A (p.Thr625Asn)
|
|
|
NM_001148.6(ANK2):c.1895C>T (p.Pro632Leu)
|
rs929567243
|
|
NM_001148.6(ANK2):c.1920T>A (p.Asn640Lys)
|
rs2153713584
|
|
NM_001148.6(ANK2):c.1950C>A (p.Asn650Lys)
|
|
|
NM_001148.6(ANK2):c.1968C>G (p.Asn656Lys)
|
|
|
NM_001148.6(ANK2):c.2017G>C (p.Gly673Arg)
|
|
|
NM_001148.6(ANK2):c.2018G>T (p.Gly673Val)
|
rs947398548
|
|
NM_001148.6(ANK2):c.202C>G (p.Leu68Val)
|
|
|
NM_001148.6(ANK2):c.2040G>T (p.Leu680Phe)
|
|
|
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.2068A>G (p.Met690Val)
|
|
|
NM_001148.6(ANK2):c.2069T>C (p.Met690Thr)
|
|
|
NM_001148.6(ANK2):c.2150A>C (p.His717Pro)
|
|
|
NM_001148.6(ANK2):c.2166T>A (p.Asp722Glu)
|
|
|
NM_001148.6(ANK2):c.2173A>G (p.Thr725Ala)
|
|
|
NM_001148.6(ANK2):c.2204C>T (p.Ala735Val)
|
rs868661838
|
|
NM_001148.6(ANK2):c.224G>C (p.Gly75Ala)
|
|
|
NM_001148.6(ANK2):c.2290C>T (p.Pro764Ser)
|
|
|
NM_001148.6(ANK2):c.2323C>A (p.His775Asn)
|
|
|
NM_001148.6(ANK2):c.2326A>G (p.Ile776Val)
|
rs947769072
|
|
NM_001148.6(ANK2):c.2365G>A (p.Ala789Thr)
|
|
|
NM_001148.6(ANK2):c.2375C>A (p.Ala792Glu)
|
|
|
NM_001148.6(ANK2):c.2377-7_2377-4del
|
|
|
NM_001148.6(ANK2):c.2460CAC[6] (p.Thr826dup)
|
rs770530257
|
|
NM_001148.6(ANK2):c.2477C>G (p.Thr826Ser)
|
|
|
NM_001148.6(ANK2):c.2513C>T (p.Thr838Met)
|
|
|
NM_001148.6(ANK2):c.2541T>G (p.Asp847Glu)
|
|
|
NM_001148.6(ANK2):c.2549-3A>G
|
|
|
NM_001148.6(ANK2):c.2573G>A (p.Gly858Glu)
|
|
|
NM_001148.6(ANK2):c.2579A>C (p.Glu860Ala)
|
rs2079826770
|
|
NM_001148.6(ANK2):c.260G>A (p.Gly87Glu)
|
|
|
NM_001148.6(ANK2):c.2685_2693+30dup
|
|
|
NM_001148.6(ANK2):c.271G>A (p.Asp91Asn)
|
|
|
NM_001148.6(ANK2):c.2766G>A (p.Met922Ile)
|
rs748939338
|
|
NM_001148.6(ANK2):c.2770G>T (p.Asp924Tyr)
|
|
|
NM_001148.6(ANK2):c.2815G>A (p.Glu939Lys)
|
|
|
NM_001148.6(ANK2):c.2822A>G (p.Glu941Gly)
|
|
|
NM_001148.6(ANK2):c.2843G>A (p.Ser948Asn)
|
|
|
NM_001148.6(ANK2):c.2843G>T (p.Ser948Ile)
|
|
|
NM_001148.6(ANK2):c.286-3C>T
|
|
|
NM_001148.6(ANK2):c.2891T>C (p.Ile964Thr)
|
|
|
NM_001148.6(ANK2):c.2894A>G (p.His965Arg)
|
|
|
NM_001148.6(ANK2):c.2917A>C (p.Met973Leu)
|
|
|
NM_001148.6(ANK2):c.2926G>T (p.Ala976Ser)
|
|
|
NM_001148.6(ANK2):c.3020G>A (p.Arg1007Gln)
|
rs1554509161
|
|
NM_001148.6(ANK2):c.3037A>T (p.Arg1013Ter)
|
|
|
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.3173G>A (p.Ser1058Asn)
|
|
|
NM_001148.6(ANK2):c.3185G>A (p.Arg1062His)
|
|
|
NM_001148.6(ANK2):c.3255G>A (p.Ala1085=)
|
rs56173868
|
|
NM_001148.6(ANK2):c.3268A>G (p.Lys1090Glu)
|
rs1384689202
|
|
NM_001148.6(ANK2):c.3278A>T (p.Glu1093Val)
|
|
|
NM_001148.6(ANK2):c.32A>T (p.Asp11Val)
|
|
|
NM_001148.6(ANK2):c.3303T>G (p.Asn1101Lys)
|
rs1588425694
|
|
NM_001148.6(ANK2):c.3317A>C (p.Lys1106Thr)
|
|
|
NM_001148.6(ANK2):c.3370A>C (p.Met1124Leu)
|
|
|
NM_001148.6(ANK2):c.3370A>G (p.Met1124Val)
|
|
|
NM_001148.6(ANK2):c.3379+4C>A
|
rs752152002
|
|
NM_001148.6(ANK2):c.3391C>A (p.Pro1131Thr)
|
|
|
NM_001148.6(ANK2):c.3418T>G (p.Cys1140Gly)
|
|
|
NM_001148.6(ANK2):c.3434G>A (p.Arg1145Gln)
|
rs2093465785
|
|
NM_001148.6(ANK2):c.3505G>T (p.Gly1169Cys)
|
|
|
NM_001148.6(ANK2):c.3508G>A (p.Val1170Ile)
|
|
|
NM_001148.6(ANK2):c.350T>C (p.Val117Ala)
|
|
|
NM_001148.6(ANK2):c.3542C>T (p.Ala1181Val)
|
|
|
NM_001148.6(ANK2):c.3544G>A (p.Val1182Ile)
|
|
|
NM_001148.6(ANK2):c.3580G>A (p.Val1194Ile)
|
|
|
NM_001148.6(ANK2):c.3640G>A (p.Ala1214Thr)
|
rs766019055
|
|
NM_001148.6(ANK2):c.3644C>T (p.Thr1215Ile)
|
|
|
NM_001148.6(ANK2):c.3655A>G (p.Ile1219Val)
|
|
|
NM_001148.6(ANK2):c.3730A>G (p.Ser1244Gly)
|
|
|
NM_001148.6(ANK2):c.3736G>T (p.Val1246Phe)
|
|
|
NM_001148.6(ANK2):c.3748G>A (p.Gly1250Ser)
|
|
|
NM_001148.6(ANK2):c.3764C>T (p.Ala1255Val)
|
|
|
NM_001148.6(ANK2):c.3767C>T (p.Pro1256Leu)
|
|
|
NM_001148.6(ANK2):c.387T>A (p.Asn129Lys)
|
|
|
NM_001148.6(ANK2):c.3893+5C>T
|
|
|
NM_001148.6(ANK2):c.3939T>G (p.Phe1313Leu)
|
|
|
NM_001148.6(ANK2):c.3948A>C (p.Gln1316His)
|
|
|
NM_001148.6(ANK2):c.3970G>C (p.Val1324Leu)
|
|
|
NM_001148.6(ANK2):c.4019T>C (p.Ile1340Thr)
|
|
|
NM_001148.6(ANK2):c.4055A>G (p.Asp1352Gly)
|
rs2153979257
|
|
NM_001148.6(ANK2):c.4056T>A (p.Asp1352Glu)
|
|
|
NM_001148.6(ANK2):c.4114G>A (p.Asp1372Asn)
|
|
|
NM_001148.6(ANK2):c.4122+4C>T
|
|
|
NM_001148.6(ANK2):c.413C>T (p.Ala138Val)
|
|
|
NM_001148.6(ANK2):c.4147G>C (p.Val1383Leu)
|
rs764532145
|
|
NM_001148.6(ANK2):c.4156T>C (p.Phe1386Leu)
|
|
|
NM_001148.6(ANK2):c.4176A>C (p.Leu1392Phe)
|
|
|
NM_001148.6(ANK2):c.4180A>G (p.Lys1394Glu)
|
|
|
NM_001148.6(ANK2):c.4206T>G (p.Ser1402Arg)
|
|
|
NM_001148.6(ANK2):c.4209T>A (p.Phe1403Leu)
|
|
|
NM_001148.6(ANK2):c.4235C>G (p.Pro1412Arg)
|
|
|
NM_001148.6(ANK2):c.4299G>T (p.Glu1433Asp)
|
rs755562417
|
|
NM_001148.6(ANK2):c.4364A>T (p.Tyr1455Phe)
|
|
|
NM_001148.6(ANK2):c.4375T>A (p.Ser1459Thr)
|
|
|
NM_001148.6(ANK2):c.4397A>T (p.Glu1466Val)
|
|
|
NM_001148.6(ANK2):c.4456G>A (p.Val1486Ile)
|
|
|
NM_001148.6(ANK2):c.449T>C (p.Leu150Pro)
|
|
|
NM_001148.6(ANK2):c.4520T>G (p.Val1507Gly)
|
|
|
NM_001148.6(ANK2):c.4559T>C (p.Ile1520Thr)
|
|
|
NM_001148.6(ANK2):c.4594A>T (p.Ile1532Phe)
|
|
|
NM_001148.6(ANK2):c.4618G>T (p.Ala1540Ser)
|
rs767390750
|
|
NM_001148.6(ANK2):c.4642C>A (p.Pro1548Thr)
|
|
|
NM_001148.6(ANK2):c.469A>G (p.Ser157Gly)
|
|
|
NM_001148.6(ANK2):c.4732G>A (p.Val1578Met)
|
rs1554550420
|
|
NM_001148.6(ANK2):c.48C>G (p.Phe16Leu)
|
|
|
NM_001148.6(ANK2):c.49A>G (p.Asn17Asp)
|
|
|
NM_001148.6(ANK2):c.4A>G (p.Met2Val)
|
|
|
NM_001148.6(ANK2):c.5017A>G (p.Arg1673Gly)
|
rs886038862
|
|
NM_001148.6(ANK2):c.5051C>T (p.Pro1684Leu)
|
|
|
NM_001148.6(ANK2):c.5136G>C (p.Gln1712His)
|
rs773125026
|
|
NM_001148.6(ANK2):c.5146G>A (p.Glu1716Lys)
|
|
|
NM_001148.6(ANK2):c.5234C>G (p.Pro1745Arg)
|
rs751038588
|
|
NM_001148.6(ANK2):c.5266C>G (p.Pro1756Ala)
|
|
|
NM_001148.6(ANK2):c.530A>T (p.Gln177Leu)
|
|
|
NM_001148.6(ANK2):c.532G>T (p.Ala178Ser)
|
|
|
NM_001148.6(ANK2):c.5351G>A (p.Arg1784Gln)
|
rs777085522
|
|
NM_001148.6(ANK2):c.5369G>A (p.Arg1790Lys)
|
|
|
NM_001148.6(ANK2):c.5385G>T (p.Glu1795Asp)
|
|
|
NM_001148.6(ANK2):c.5441A>C (p.Lys1814Thr)
|
|
|
NM_001148.6(ANK2):c.5442G>T (p.Lys1814Asn)
|
|
|
NM_001148.6(ANK2):c.5486G>A (p.Arg1829Lys)
|
|
|
NM_001148.6(ANK2):c.5492C>T (p.Ser1831Phe)
|
rs1259276813
|
|
NM_001148.6(ANK2):c.5571_5642del (p.Ala1861_Ser1884del)
|
rs2095591008
|
|
NM_001148.6(ANK2):c.5595A>T (p.Arg1865Ser)
|
|
|
NM_001148.6(ANK2):c.5615C>T (p.Ser1872Leu)
|
|
|
NM_001148.6(ANK2):c.5716C>G (p.Pro1906Ala)
|
|
|
NM_001148.6(ANK2):c.5756C>A (p.Ser1919Tyr)
|
|
|
NM_001148.6(ANK2):c.575G>A (p.Arg192Lys)
|
|
|
NM_001148.6(ANK2):c.5777C>G (p.Pro1926Arg)
|
|
|
NM_001148.6(ANK2):c.5849C>A (p.Pro1950His)
|
|
|
NM_001148.6(ANK2):c.5852T>C (p.Val1951Ala)
|
|
|
NM_001148.6(ANK2):c.598G>A (p.Ala200Thr)
|
|
|
NM_001148.6(ANK2):c.6004G>A (p.Asp2002Asn)
|
|
|
NM_001148.6(ANK2):c.6069G>C (p.Glu2023Asp)
|
|
|
NM_001148.6(ANK2):c.6088G>A (p.Glu2030Lys)
|
rs1226590997
|
|
NM_001148.6(ANK2):c.6239C>G (p.Ala2080Gly)
|
|
|
NM_001148.6(ANK2):c.6247G>A (p.Gly2083Arg)
|
|
|
NM_001148.6(ANK2):c.625G>T (p.Ala209Ser)
|
rs1060501154
|
|
NM_001148.6(ANK2):c.6286G>A (p.Val2096Ile)
|
rs781709192
|
|
NM_001148.6(ANK2):c.6311G>A (p.Ser2104Asn)
|
|
|
NM_001148.6(ANK2):c.6385G>A (p.Asp2129Asn)
|
|
|
NM_001148.6(ANK2):c.6542A>G (p.Asp2181Gly)
|
|
|
NM_001148.6(ANK2):c.6547A>G (p.Met2183Val)
|
rs773708100
|
|
NM_001148.6(ANK2):c.6559T>C (p.Phe2187Leu)
|
|
|
NM_001148.6(ANK2):c.6609A>C (p.Glu2203Asp)
|
|
|
NM_001148.6(ANK2):c.661C>A (p.Gln221Lys)
|
|
|
NM_001148.6(ANK2):c.6629T>C (p.Val2210Ala)
|
|
|
NM_001148.6(ANK2):c.6629T>G (p.Val2210Gly)
|
rs886038889
|
|
NM_001148.6(ANK2):c.6718C>A (p.Pro2240Thr)
|
rs752841046
|
|
NM_001148.6(ANK2):c.6736A>G (p.Ser2246Gly)
|
|
|
NM_001148.6(ANK2):c.6756G>T (p.Lys2252Asn)
|
|
|
NM_001148.6(ANK2):c.6835C>T (p.His2279Tyr)
|
|
|
NM_001148.6(ANK2):c.7019C>A (p.Pro2340His)
|
|
|
NM_001148.6(ANK2):c.7042G>A (p.Ala2348Thr)
|
rs1466354397
|
|
NM_001148.6(ANK2):c.7055G>A (p.Gly2352Asp)
|
|
|
NM_001148.6(ANK2):c.7105_7106delinsTC (p.Val2369Ser)
|
|
|
NM_001148.6(ANK2):c.7132G>C (p.Glu2378Gln)
|
|
|
NM_001148.6(ANK2):c.7180G>A (p.Gly2394Arg)
|
|
|
NM_001148.6(ANK2):c.7195C>T (p.Pro2399Ser)
|
|
|
NM_001148.6(ANK2):c.7205T>G (p.Val2402Gly)
|
|
|
NM_001148.6(ANK2):c.7231C>T (p.Leu2411Phe)
|
|
|
NM_001148.6(ANK2):c.7244G>C (p.Ser2415Thr)
|
|
|
NM_001148.6(ANK2):c.7253G>A (p.Ser2418Asn)
|
|
|
NM_001148.6(ANK2):c.7289C>T (p.Ala2430Val)
|
|
|
NM_001148.6(ANK2):c.7322C>T (p.Pro2441Leu)
|
|
|
NM_001148.6(ANK2):c.7347C>G (p.His2449Gln)
|
|
|
NM_001148.6(ANK2):c.7379T>C (p.Leu2460Pro)
|
rs1294965906
|
|
NM_001148.6(ANK2):c.7417C>G (p.Pro2473Ala)
|
|
|
NM_001148.6(ANK2):c.7535A>T (p.Asp2512Val)
|
|
|
NM_001148.6(ANK2):c.7579C>T (p.Leu2527Phe)
|
rs886059015
|
|
NM_001148.6(ANK2):c.7663A>G (p.Thr2555Ala)
|
|
|
NM_001148.6(ANK2):c.7664C>A (p.Thr2555Lys)
|
|
|
NM_001148.6(ANK2):c.7685C>T (p.Pro2562Leu)
|
rs886039184
|
|
NM_001148.6(ANK2):c.7706C>T (p.Ala2569Val)
|
|
|
NM_001148.6(ANK2):c.7763T>G (p.Met2588Arg)
|
|
|
NM_001148.6(ANK2):c.7805A>G (p.Glu2602Gly)
|
|
|
NM_001148.6(ANK2):c.7834A>G (p.Lys2612Glu)
|
rs886038874
|
|
NM_001148.6(ANK2):c.7909C>T (p.Pro2637Ser)
|
|
|
NM_001148.6(ANK2):c.7945G>A (p.Val2649Ile)
|
|
|
NM_001148.6(ANK2):c.8016G>C (p.Gln2672His)
|
|
|
NM_001148.6(ANK2):c.8027G>A (p.Gly2676Asp)
|
rs752323136
|
|
NM_001148.6(ANK2):c.8027G>T (p.Gly2676Val)
|
|
|
NM_001148.6(ANK2):c.8155A>G (p.Thr2719Ala)
|
rs1554563090
|
|
NM_001148.6(ANK2):c.8300A>C (p.Asp2767Ala)
|
|
|
NM_001148.6(ANK2):c.8318A>T (p.Asp2773Val)
|
|
|
NM_001148.6(ANK2):c.8351G>A (p.Ser2784Asn)
|
|
|
NM_001148.6(ANK2):c.85-3C>T
|
|
|
NM_001148.6(ANK2):c.8515T>G (p.Cys2839Gly)
|
|
|
NM_001148.6(ANK2):c.8528G>A (p.Ser2843Asn)
|
|
|
NM_001148.6(ANK2):c.8573G>C (p.Gly2858Ala)
|
|
|
NM_001148.6(ANK2):c.8693C>T (p.Thr2898Ile)
|
|
|
NM_001148.6(ANK2):c.8720A>T (p.Asp2907Val)
|
|
|
NM_001148.6(ANK2):c.8725C>A (p.Pro2909Thr)
|
|
|
NM_001148.6(ANK2):c.8757C>G (p.Ile2919Met)
|
|
|
NM_001148.6(ANK2):c.8776A>C (p.Ser2926Arg)
|
|
|
NM_001148.6(ANK2):c.8813C>G (p.Ser2938Cys)
|
|
|
NM_001148.6(ANK2):c.8857A>G (p.Ser2953Gly)
|
|
|
NM_001148.6(ANK2):c.8912T>C (p.Val2971Ala)
|
|
|
NM_001148.6(ANK2):c.8953G>A (p.Glu2985Lys)
|
|
|
NM_001148.6(ANK2):c.9002G>A (p.Ser3001Asn)
|
|
|
NM_001148.6(ANK2):c.9018G>A (p.Met3006Ile)
|
|
|
NM_001148.6(ANK2):c.9035C>T (p.Ser3012Phe)
|
|
|
NM_001148.6(ANK2):c.9117T>G (p.Asp3039Glu)
|
|
|
NM_001148.6(ANK2):c.9146G>A (p.Arg3049Gln)
|
rs1717042447
|
|
NM_001148.6(ANK2):c.9161C>T (p.Ala3054Val)
|
rs139007578
|
|
NM_001148.6(ANK2):c.9205T>G (p.Leu3069Val)
|
|
|
NM_001148.6(ANK2):c.9208A>G (p.Met3070Val)
|
rs2095893623
|
|
NM_001148.6(ANK2):c.9236C>T (p.Thr3079Ile)
|
|
|
NM_001148.6(ANK2):c.9245C>T (p.Thr3082Ile)
|
rs770289485
|
|
NM_001148.6(ANK2):c.9341G>C (p.Ser3114Thr)
|
|
|
NM_001148.6(ANK2):c.9413C>A (p.Ser3138Tyr)
|
|
|
NM_001148.6(ANK2):c.9422A>G (p.Glu3141Gly)
|
|
|
NM_001148.6(ANK2):c.9455C>A (p.Thr3152Asn)
|
|
|
NM_001148.6(ANK2):c.9673C>A (p.Leu3225Ile)
|
|
|
NM_001148.6(ANK2):c.9733C>T (p.Pro3245Ser)
|
|
|
NM_001148.6(ANK2):c.9793G>T (p.Val3265Phe)
|
|
|
NM_001148.6(ANK2):c.9855C>G (p.Ile3285Met)
|
|
|
NM_001148.6(ANK2):c.9883G>A (p.Val3295Met)
|
|
|
NM_001148.6(ANK2):c.9887C>T (p.Pro3296Leu)
|
|
|
NM_001148.6(ANK2):c.990+3G>A
|
|
|
NM_001148.6(ANK2):c.9908A>G (p.Lys3303Arg)
|
|
|
NM_001148.6(ANK2):c.9964G>C (p.Glu3322Gln)
|
|
|
NM_001148.6(ANK2):c.9997G>A (p.Val3333Ile)
|
|
|
NM_001159699.2(FHL1):c.178C>T (p.Arg60Cys)
|
|
|
NM_001159699.2(FHL1):c.187A>T (p.Ile63Phe)
|
|
|
NM_001159699.2(FHL1):c.239C>A (p.Thr80Asn)
|
rs746834335
|
|
NM_001159699.2(FHL1):c.287T>C (p.Phe96Ser)
|
|
|
NM_001159699.2(FHL1):c.353A>G (p.Lys118Arg)
|
|
|
NM_001159699.2(FHL1):c.365A>G (p.Lys122Arg)
|
|
|
NM_001159699.2(FHL1):c.458G>T (p.Gly153Val)
|
|
|
NM_001159699.2(FHL1):c.515C>T (p.Thr172Ile)
|
|
|
NM_001159699.2(FHL1):c.534C>G (p.Cys178Trp)
|
rs377693754
|
|
NM_001159699.2(FHL1):c.535G>A (p.Val179Met)
|
|
|
NM_001159699.2(FHL1):c.653C>T (p.Ala218Val)
|
|
|
NM_001159699.2(FHL1):c.676G>A (p.Val226Met)
|
|
|
NM_001159699.2(FHL1):c.684C>G (p.Cys228Trp)
|
|
|
NM_001159699.2(FHL1):c.77G>A (p.Cys26Tyr)
|
rs2148371537
|
|
NM_001159699.2(FHL1):c.80G>A (p.Arg27Lys)
|
|
|
NM_001159699.2(FHL1):c.810dup (p.Cys271fs)
|
rs2073964376
|
|
NM_001159699.2(FHL1):c.817G>C (p.Val273Leu)
|
rs190006104
|
|
NM_001159699.2(FHL1):c.835C>T (p.Arg279Cys)
|
|
|
NM_001159699.2(FHL1):c.852G>C (p.Gln284His)
|
rs774024150
|
|
NM_001159699.2(FHL1):c.868C>T (p.Pro290Ser)
|
rs1039991254
|
|
NM_001159699.2(FHL1):c.891A>T (p.Ter297Tyr)
|
|
|
NM_001232.4(CASQ2):c.1030A>T (p.Met344Leu)
|
rs1295335060
|
|
NM_001232.4(CASQ2):c.1044TGA[1] (p.Asp351del)
|
|
|
NM_001232.4(CASQ2):c.1082G>C (p.Trp361Ser)
|
rs786205792
|
|
NM_001232.4(CASQ2):c.1084A>C (p.Ile362Leu)
|
|
|
NM_001232.4(CASQ2):c.1131_1133del (p.Glu377del)
|
rs765914619
|
|
NM_001232.4(CASQ2):c.1131_1139del (p.Glu377_Asp379del)
|
|
|
NM_001232.4(CASQ2):c.1159G>A (p.Glu387Lys)
|
|
|
NM_001232.4(CASQ2):c.115G>C (p.Glu39Gln)
|
|
|
NM_001232.4(CASQ2):c.1185_1187del (p.Asp398del)
|
rs397516641
|
|
NM_001232.4(CASQ2):c.118A>G (p.Lys40Glu)
|
rs786205797
|
|
NM_001232.4(CASQ2):c.1196A>C (p.Glu399Ala)
|
|
|
NM_001232.4(CASQ2):c.178G>C (p.Val60Leu)
|
|
|
NM_001232.4(CASQ2):c.258T>G (p.His86Gln)
|
|
|
NM_001232.4(CASQ2):c.265A>G (p.Ile89Val)
|
|
|
NM_001232.4(CASQ2):c.268G>C (p.Gly90Arg)
|
|
|
NM_001232.4(CASQ2):c.271T>C (p.Phe91Leu)
|
rs1181984320
|
|
NM_001232.4(CASQ2):c.279G>A (p.Met93Ile)
|
|
|
NM_001232.4(CASQ2):c.290A>C (p.Lys97Thr)
|
|
|
NM_001232.4(CASQ2):c.299C>T (p.Ala100Val)
|
|
|
NM_001232.4(CASQ2):c.31A>T (p.Ile11Phe)
|
rs2101130741
|
|
NM_001232.4(CASQ2):c.320-3C>T
|
|
|
NM_001232.4(CASQ2):c.320-5T>C
|
|
|
NM_001232.4(CASQ2):c.326A>T (p.Asp109Val)
|
rs946911897
|
|
NM_001232.4(CASQ2):c.337A>G (p.Ser113Gly)
|
|
|
NM_001232.4(CASQ2):c.362G>A (p.Arg121His)
|
|
|
NM_001232.4(CASQ2):c.362G>T (p.Arg121Leu)
|
|
|
NM_001232.4(CASQ2):c.382G>A (p.Glu128Lys)
|
rs1557798151
|
|
NM_001232.4(CASQ2):c.389C>T (p.Ala130Val)
|
|
|
NM_001232.4(CASQ2):c.38T>C (p.Phe13Ser)
|
|
|
NM_001232.4(CASQ2):c.395A>T (p.Asp132Val)
|
|
|
NM_001232.4(CASQ2):c.401T>G (p.Leu134Trp)
|
|
|
NM_001232.4(CASQ2):c.440A>G (p.Glu147Gly)
|
rs1553195093
|
|
NM_001232.4(CASQ2):c.481A>C (p.Ile161Leu)
|
rs146333579
|
|
NM_001232.4(CASQ2):c.493A>G (p.Ile165Val)
|
|
|
NM_001232.4(CASQ2):c.4A>G (p.Lys2Glu)
|
|
|
NM_001232.4(CASQ2):c.562C>T (p.His188Tyr)
|
|
|
NM_001232.4(CASQ2):c.589G>T (p.Ala197Ser)
|
|
|
NM_001232.4(CASQ2):c.61G>A (p.Glu21Lys)
|
|
|
NM_001232.4(CASQ2):c.64G>A (p.Gly22Arg)
|
|
|
NM_001232.4(CASQ2):c.676G>T (p.Ala226Ser)
|
|
|
NM_001232.4(CASQ2):c.691C>T (p.Pro231Ser)
|
rs749796276
|
|
NM_001232.4(CASQ2):c.692C>T (p.Pro231Leu)
|
rs780769796
|
|
NM_001232.4(CASQ2):c.713T>C (p.Val238Ala)
|
|
|
NM_001232.4(CASQ2):c.749G>A (p.Arg250His)
|
|
|
NM_001232.4(CASQ2):c.749G>T (p.Arg250Leu)
|
rs187306418
|
|
NM_001232.4(CASQ2):c.757C>T (p.Arg253Cys)
|
rs727504510
|
|
NM_001232.4(CASQ2):c.775G>C (p.Glu259Gln)
|
|
|
NM_001232.4(CASQ2):c.776A>G (p.Glu259Gly)
|
|
|
NM_001232.4(CASQ2):c.784G>A (p.Glu262Lys)
|
|
|
NM_001232.4(CASQ2):c.808A>C (p.Ile270Leu)
|
|
|
NM_001232.4(CASQ2):c.808A>G (p.Ile270Val)
|
|
|
NM_001232.4(CASQ2):c.823G>C (p.Glu275Gln)
|
|
|
NM_001232.4(CASQ2):c.91A>G (p.Lys31Glu)
|
|
|
NM_001232.4(CASQ2):c.932T>G (p.Phe311Cys)
|
|
|
NM_001232.4(CASQ2):c.933T>A (p.Phe311Leu)
|
rs769960615
|
|
NM_001232.4(CASQ2):c.954G>C (p.Trp318Cys)
|
|
|
NM_001232.4(CASQ2):c.988C>G (p.Gln330Glu)
|
|
|
NM_001232.4(CASQ2):c.997G>T (p.Val333Leu)
|
|
|
NM_001267550.2(TTN):c.100019A>G (p.Gln33340Arg)
|
|
|
NM_001267550.2(TTN):c.100061T>C (p.Val33354Ala)
|
|
|
NM_001267550.2(TTN):c.100112C>T (p.Thr33371Ile)
|
|
|
NM_001267550.2(TTN):c.100172-3T>C
|
rs1312922352
|
|
NM_001267550.2(TTN):c.100181G>A (p.Gly33394Asp)
|
|
|
NM_001267550.2(TTN):c.100244C>T (p.Pro33415Leu)
|
rs72648282
|
|
NM_001267550.2(TTN):c.100310A>G (p.Asn33437Ser)
|
|
|
NM_001267550.2(TTN):c.100346A>C (p.Glu33449Ala)
|
|
|
NM_001267550.2(TTN):c.100397G>A (p.Arg33466His)
|
rs189626540
|
|
NM_001267550.2(TTN):c.100423G>A (p.Glu33475Lys)
|
|
|
NM_001267550.2(TTN):c.100457C>T (p.Thr33486Ile)
|
|
|
NM_001267550.2(TTN):c.10045A>G (p.Thr3349Ala)
|
rs777960129
|
|
NM_001267550.2(TTN):c.10048C>T (p.Pro3350Ser)
|
|
|
NM_001267550.2(TTN):c.100602A>C (p.Lys33534Asn)
|
rs1553501442
|
|
NM_001267550.2(TTN):c.100982G>A (p.Arg33661Lys)
|
rs201857158
|
|
NM_001267550.2(TTN):c.101117_101140del (p.Val33706_Pro33713del)
|
rs886043352
|
|
NM_001267550.2(TTN):c.101143T>C (p.Ser33715Pro)
|
|
|
NM_001267550.2(TTN):c.101252A>G (p.Asn33751Ser)
|
|
|
NM_001267550.2(TTN):c.101303T>G (p.Phe33768Cys)
|
|
|
NM_001267550.2(TTN):c.101354A>G (p.Asp33785Gly)
|
|
|
NM_001267550.2(TTN):c.101423C>G (p.Ser33808Cys)
|
|
|
NM_001267550.2(TTN):c.101440del (p.Glu33814fs)
|
rs1690880184
|
|
NM_001267550.2(TTN):c.101483G>A (p.Gly33828Asp)
|
|
|
NM_001267550.2(TTN):c.101567A>T (p.Asp33856Val)
|
rs1690813389
|
|
NM_001267550.2(TTN):c.101609C>G (p.Ala33870Gly)
|
|
|
NM_001267550.2(TTN):c.101783A>G (p.Gln33928Arg)
|
|
|
NM_001267550.2(TTN):c.101809C>A (p.His33937Asn)
|
|
|
NM_001267550.2(TTN):c.101869A>C (p.Ile33957Leu)
|
|
|
NM_001267550.2(TTN):c.101920del (p.Leu33974fs)
|
rs1690665406
|
|
NM_001267550.2(TTN):c.101929A>G (p.Thr33977Ala)
|
|
|
NM_001267550.2(TTN):c.102067A>G (p.Ile34023Val)
|
|
|
NM_001267550.2(TTN):c.102457G>A (p.Val34153Ile)
|
|
|
NM_001267550.2(TTN):c.102510G>C (p.Trp34170Cys)
|
rs1559033550
|
|
NM_001267550.2(TTN):c.102550G>A (p.Glu34184Lys)
|
|
|
NM_001267550.2(TTN):c.102658T>G (p.Ser34220Ala)
|
|
|
NM_001267550.2(TTN):c.102795TAA[1] (p.Asn34266del)
|
rs886044414
|
|
NM_001267550.2(TTN):c.102811G>A (p.Val34271Ile)
|
rs794727542
|
|
NM_001267550.2(TTN):c.102841A>C (p.Ile34281Leu)
|
rs758945559
|
|
NM_001267550.2(TTN):c.102845C>A (p.Thr34282Asn)
|
|
|
NM_001267550.2(TTN):c.103109C>A (p.Ala34370Glu)
|
rs748511301
|
|
NM_001267550.2(TTN):c.103133A>C (p.Gln34378Pro)
|
rs779618819
|
|
NM_001267550.2(TTN):c.103165A>G (p.Ile34389Val)
|
|
|
NM_001267550.2(TTN):c.103204C>T (p.Pro34402Ser)
|
rs1361480669
|
|
NM_001267550.2(TTN):c.103271G>C (p.Arg34424Thr)
|
|
|
NM_001267550.2(TTN):c.103381C>G (p.Gln34461Glu)
|
|
|
NM_001267550.2(TTN):c.103591A>G (p.Lys34531Glu)
|
|
|
NM_001267550.2(TTN):c.103615C>A (p.Pro34539Thr)
|
|
|
NM_001267550.2(TTN):c.103659AGA[2] (p.Glu34555del)
|
rs759860918
|
|
NM_001267550.2(TTN):c.103829G>T (p.Arg34610Leu)
|
|
|
NM_001267550.2(TTN):c.103931A>C (p.Tyr34644Ser)
|
|
|
NM_001267550.2(TTN):c.103938_103945delinsCTCTTGGG (p.Tyr34647_Arg34649delinsSerTrpGly)
|
rs1689696229
|
|
NM_001267550.2(TTN):c.104024G>A (p.Arg34675Lys)
|
rs765125364
|
|
NM_001267550.2(TTN):c.104104C>G (p.His34702Asp)
|
|
|
NM_001267550.2(TTN):c.104311G>A (p.Glu34771Lys)
|
rs2154134190
|
|
NM_001267550.2(TTN):c.104414G>T (p.Arg34805Leu)
|
rs115150240
|
|
NM_001267550.2(TTN):c.104505ACT[1] (p.Leu34837del)
|
|
|
NM_001267550.2(TTN):c.104798A>G (p.Gln34933Arg)
|
|
|
NM_001267550.2(TTN):c.104798A>T (p.Gln34933Leu)
|
|
|
NM_001267550.2(TTN):c.104837T>G (p.Leu34946Arg)
|
rs1185207035
|
|
NM_001267550.2(TTN):c.104883T>G (p.Phe34961Leu)
|
rs934181908
|
|
NM_001267550.2(TTN):c.104906C>G (p.Pro34969Arg)
|
rs2154133728
|
|
NM_001267550.2(TTN):c.104986G>A (p.Val34996Ile)
|
|
|
NM_001267550.2(TTN):c.105122C>T (p.Ser35041Phe)
|
|
|
NM_001267550.2(TTN):c.105188C>T (p.Ala35063Val)
|
|
|
NM_001267550.2(TTN):c.105292C>T (p.His35098Tyr)
|
|
|
NM_001267550.2(TTN):c.105317G>A (p.Ser35106Asn)
|
rs1575229486
|
|
NM_001267550.2(TTN):c.105380T>C (p.Leu35127Ser)
|
|
|
NM_001267550.2(TTN):c.105406C>G (p.Arg35136Gly)
|
rs372875128
|
|
NM_001267550.2(TTN):c.105514_105516del (p.Ser35172del)
|
rs573843615
|
|
NM_001267550.2(TTN):c.105545A>G (p.Tyr35182Cys)
|
rs878913505
|
|
NM_001267550.2(TTN):c.105629AAG[1] (p.Glu35211del)
|
|
|
NM_001267550.2(TTN):c.105677A>C (p.Lys35226Thr)
|
rs1553484919
|
|
NM_001267550.2(TTN):c.105967G>A (p.Gly35323Ser)
|
rs372749780
|
|
NM_001267550.2(TTN):c.106108A>G (p.Thr35370Ala)
|
|
|
NM_001267550.2(TTN):c.106133C>T (p.Ala35378Val)
|
rs555476312
|
|
NM_001267550.2(TTN):c.106367_106369dup (p.Asp35456_Gly35457insAsp)
|
|
|
NM_001267550.2(TTN):c.106461T>A (p.Ser35487Arg)
|
rs886039020
|
|
NM_001267550.2(TTN):c.106531G>A (p.Ala35511Thr)
|
rs768786354
|
|
NM_001267550.2(TTN):c.106575_106576insGTAATTTCT (p.Thr35525_Ser35526insValIleSer)
|
rs768256269
|
|
NM_001267550.2(TTN):c.106583T>C (p.Ile35528Thr)
|
|
|
NM_001267550.2(TTN):c.106781C>T (p.Thr35594Ile)
|
|
|
NM_001267550.2(TTN):c.106795G>C (p.Ala35599Pro)
|
|
|
NM_001267550.2(TTN):c.107305A>C (p.Ser35769Arg)
|
|
|
NM_001267550.2(TTN):c.107438A>G (p.Gln35813Arg)
|
|
|
NM_001267550.2(TTN):c.107469G>A (p.Met35823Ile)
|
|
|
NM_001267550.2(TTN):c.1076_1080del (p.Met359fs)
|
|
|
NM_001267550.2(TTN):c.107747T>C (p.Val35916Ala)
|
rs2154129959
|
|
NM_001267550.2(TTN):c.107782G>T (p.Val35928Leu)
|
|
|
NM_001267550.2(TTN):c.107797G>C (p.Gly35933Arg)
|
rs1575170417
|
|
NM_001267550.2(TTN):c.107800G>A (p.Gly35934Arg)
|
rs368277535
|
|
NM_001267550.2(TTN):c.1118_1121del (p.Glu373fs)
|
|
|
NM_001267550.2(TTN):c.11385T>G (p.Asn3795Lys)
|
rs1553942530
|
|
NM_001267550.2(TTN):c.11512A>G (p.Thr3838Ala)
|
|
|
NM_001267550.2(TTN):c.11515C>G (p.Leu3839Val)
|
rs1553942156
|
|
NM_001267550.2(TTN):c.11557T>C (p.Trp3853Arg)
|
rs1553942094
|
|
NM_001267550.2(TTN):c.11584C>A (p.Pro3862Thr)
|
|
|
NM_001267550.2(TTN):c.11585C>G (p.Pro3862Arg)
|
|
|
NM_001267550.2(TTN):c.11615G>A (p.Gly3872Asp)
|
|
|
NM_001267550.2(TTN):c.11633T>A (p.Ile3878Asn)
|
|
|
NM_001267550.2(TTN):c.11639T>C (p.Leu3880Pro)
|
|
|
NM_001267550.2(TTN):c.11662G>A (p.Gly3888Arg)
|
|
|
NM_001267550.2(TTN):c.11692T>G (p.Tyr3898Asp)
|
rs1553941743
|
|
NM_001267550.2(TTN):c.1176_1184dup (p.390GAA[3])
|
rs1574927808
|
|
NM_001267550.2(TTN):c.11836C>T (p.Pro3946Ser)
|
|
|
NM_001267550.2(TTN):c.1189A>G (p.Ser397Gly)
|
|
|
NM_001267550.2(TTN):c.11956A>G (p.Ile3986Val)
|
|
|
NM_001267550.2(TTN):c.11959A>G (p.Ile3987Val)
|
rs551387805
|
|
NM_001267550.2(TTN):c.11977T>C (p.Ser3993Pro)
|
|
|
NM_001267550.2(TTN):c.12057_12080delinsATA (p.Ser4020_Leu4027delinsTyr)
|
|
|
NM_001267550.2(TTN):c.12142G>T (p.Ala4048Ser)
|
|
|
NM_001267550.2(TTN):c.12373C>T (p.Pro4125Ser)
|
|
|
NM_001267550.2(TTN):c.1245+4C>T
|
|
|
NM_001267550.2(TTN):c.1246-5T>C
|
rs727503707
|
|
NM_001267550.2(TTN):c.12600G>C (p.Glu4200Asp)
|
|
|
NM_001267550.2(TTN):c.12860A>G (p.Tyr4287Cys)
|
|
|
NM_001267550.2(TTN):c.1290TGC[1] (p.Ala432del)
|
|
|
NM_001267550.2(TTN):c.1313T>A (p.Val438Glu)
|
|
|
NM_001267550.2(TTN):c.13194A>C (p.Gln4398His)
|
rs375347596
|
|
NM_001267550.2(TTN):c.1324G>T (p.Val442Leu)
|
|
|
NM_001267550.2(TTN):c.13280T>C (p.Val4427Ala)
|
|
|
NM_001267550.2(TTN):c.13294A>G (p.Ile4432Val)
|
|
|
NM_001267550.2(TTN):c.13342G>A (p.Ala4448Thr)
|
|
|
NM_001267550.2(TTN):c.13487A>G (p.Gln4496Arg)
|
rs878854287
|
|
NM_001267550.2(TTN):c.13522G>T (p.Asp4508Tyr)
|
|
|
NM_001267550.2(TTN):c.13629_13663delinsCACCCTTT (p.Arg4543_Gly4555delinsSerThrLeuTrp)
|
|
|
NM_001267550.2(TTN):c.13643A>G (p.Asp4548Gly)
|
|
|
NM_001267550.2(TTN):c.1364C>G (p.Thr455Arg)
|
|
|
NM_001267550.2(TTN):c.1364C>T (p.Thr455Met)
|
rs368121196
|
|
NM_001267550.2(TTN):c.13751G>A (p.Gly4584Asp)
|
|
|
NM_001267550.2(TTN):c.13811A>G (p.Asp4604Gly)
|
|
|
NM_001267550.2(TTN):c.13877C>T (p.Thr4626Ile)
|
|
|
NM_001267550.2(TTN):c.1393G>T (p.Glu465Ter)
|
rs1313233245
|
|
NM_001267550.2(TTN):c.1397A>G (p.Gln466Arg)
|
|
|
NM_001267550.2(TTN):c.1399-5A>G
|
|
|
NM_001267550.2(TTN):c.1412C>T (p.Ala471Val)
|
|
|
NM_001267550.2(TTN):c.14140G>A (p.Gly4714Ser)
|
|
|
NM_001267550.2(TTN):c.14188C>T (p.Arg4730Trp)
|
|
|
NM_001267550.2(TTN):c.14209G>T (p.Gly4737Cys)
|
|
|
NM_001267550.2(TTN):c.14304C>T (p.Gly4768=)
|
|
|
NM_001267550.2(TTN):c.14341G>A (p.Val4781Ile)
|
|
|
NM_001267550.2(TTN):c.14701A>G (p.Ile4901Val)
|
rs886038840
|
|
NM_001267550.2(TTN):c.1494_1496del (p.Ile499del)
|
rs750748086
|
|
NM_001267550.2(TTN):c.1566A>C (p.Val522=)
|
|
|
NM_001267550.2(TTN):c.1576G>C (p.Val526Leu)
|
|
|
NM_001267550.2(TTN):c.159C>T (p.Gly53=)
|
rs1367693905
|
|
NM_001267550.2(TTN):c.1613G>A (p.Arg538Lys)
|
|
|
NM_001267550.2(TTN):c.177C>A (p.Ser59Arg)
|
rs191057824
|
|
NM_001267550.2(TTN):c.1819A>G (p.Lys607Glu)
|
|
|
NM_001267550.2(TTN):c.1828G>C (p.Val610Leu)
|
rs397517499
|
|
NM_001267550.2(TTN):c.1895del (p.Gly632fs)
|
|
|
NM_001267550.2(TTN):c.1913A>T (p.Glu638Val)
|
|
|
NM_001267550.2(TTN):c.1933_1935del (p.Glu645del)
|
rs774138200
|
|
NM_001267550.2(TTN):c.1938+3G>T
|
|
|
NM_001267550.2(TTN):c.1940T>C (p.Met647Thr)
|
|
|
NM_001267550.2(TTN):c.1964C>A (p.Ala655Asp)
|
rs763912778
|
|
NM_001267550.2(TTN):c.2021G>A (p.Arg674Lys)
|
|
|
NM_001267550.2(TTN):c.2042C>T (p.Thr681Ile)
|
|
|
NM_001267550.2(TTN):c.20605G>C (p.Glu6869Gln)
|
rs746830456
|
|
NM_001267550.2(TTN):c.2114TTG[3] (p.Val706_Ala707insVal)
|
|
|
NM_001267550.2(TTN):c.2123C>T (p.Ala708Val)
|
|
|
NM_001267550.2(TTN):c.21291T>A (p.Asn7097Lys)
|
rs773211607
|
|
NM_001267550.2(TTN):c.2137C>T (p.Arg713Ter)
|
rs727505277
|
|
NM_001267550.2(TTN):c.2200G>A (p.Glu734Lys)
|
|
|
NM_001267550.2(TTN):c.2248C>T (p.Pro750Ser)
|
|
|
NM_001267550.2(TTN):c.2283_2288del (p.Lys762_Ala763del)
|
rs727503701
|
|
NM_001267550.2(TTN):c.229C>T (p.Arg77Ter)
|
|
|
NM_001267550.2(TTN):c.23023G>T (p.Asp7675Tyr)
|
rs552951988
|
|
NM_001267550.2(TTN):c.2393_2394del (p.Thr798fs)
|
rs1060500528
|
|
NM_001267550.2(TTN):c.2440C>T (p.Pro814Ser)
|
|
|
NM_001267550.2(TTN):c.24590C>T (p.Thr8197Ile)
|
rs748587371
|
|
NM_001267550.2(TTN):c.2474A>G (p.Lys825Arg)
|
|
|
NM_001267550.2(TTN):c.2584C>T (p.Pro862Ser)
|
|
|
NM_001267550.2(TTN):c.2601T>A (p.Ser867Arg)
|
rs751040739
|
|
NM_001267550.2(TTN):c.2639A>G (p.Gln880Arg)
|
|
|
NM_001267550.2(TTN):c.2644C>G (p.Pro882Ala)
|
|
|
NM_001267550.2(TTN):c.2681C>G (p.Ala894Gly)
|
|
|
NM_001267550.2(TTN):c.26861C>A (p.Pro8954Gln)
|
rs752903252
|
|
NM_001267550.2(TTN):c.2696A>G (p.Lys899Arg)
|
|
|
NM_001267550.2(TTN):c.2744G>A (p.Arg915His)
|
rs376922544
|
|
NM_001267550.2(TTN):c.2744G>C (p.Arg915Pro)
|
rs376922544
|
|
NM_001267550.2(TTN):c.2775+5G>A
|
|
|
NM_001267550.2(TTN):c.2780C>T (p.Thr927Ile)
|
rs1470055509
|
|
NM_001267550.2(TTN):c.2841G>T (p.Ser947=)
|
rs774074192
|
|
NM_001267550.2(TTN):c.3004A>C (p.Ile1002Leu)
|
|
|
NM_001267550.2(TTN):c.3007C>T (p.Arg1003Cys)
|
|
|
NM_001267550.2(TTN):c.3034C>T (p.Arg1012Ter)
|
rs397517547
|
|
NM_001267550.2(TTN):c.3047_3055dup (p.Val1018_Asn1019insSerAlaVal)
|
|
|
NM_001267550.2(TTN):c.306ACC[1] (p.Pro104del)
|
|
|
NM_001267550.2(TTN):c.3101-3T>A
|
|
|
NM_001267550.2(TTN):c.3130G>T (p.Ala1044Ser)
|
|
|
NM_001267550.2(TTN):c.3217C>T (p.Gln1073Ter)
|
|
|
NM_001267550.2(TTN):c.3241G>A (p.Ala1081Thr)
|
rs55914517
|
|
NM_001267550.2(TTN):c.3370A>G (p.Thr1124Ala)
|
|
|
NM_001267550.2(TTN):c.3380+4T>G
|
|
|
NM_001267550.2(TTN):c.3415T>C (p.Cys1139Arg)
|
rs1554015395
|
|
NM_001267550.2(TTN):c.3469GTT[1] (p.Val1158del)
|
|
|
NM_001267550.2(TTN):c.3488G>A (p.Gly1163Glu)
|
|
|
NM_001267550.2(TTN):c.3637G>C (p.Glu1213Gln)
|
rs1043395012
|
|
NM_001267550.2(TTN):c.3639GTATGAAAAAGA[1] (p.1214YEKE[1])
|
rs762637057
|
|
NM_001267550.2(TTN):c.3730-5C>T
|
rs1574709001
|
|
NM_001267550.2(TTN):c.390C>G (p.Ile130Met)
|
|
|
NM_001267550.2(TTN):c.3968C>T (p.Ala1323Val)
|
rs774954394
|
|
NM_001267550.2(TTN):c.4008del (p.Arg1336fs)
|
|
|
NM_001267550.2(TTN):c.4027C>T (p.Gln1343Ter)
|
rs727503697
|
|
NM_001267550.2(TTN):c.40558+1G>T
|
rs368219776
|
|
NM_001267550.2(TTN):c.40558+5A>C
|
|
|
NM_001267550.2(TTN):c.40559-3A>C
|
|
|
NM_001267550.2(TTN):c.40566A>T (p.Arg13522Ser)
|
|
|
NM_001267550.2(TTN):c.40576GAA[5] (p.Glu13529_Pro13530insGlu)
|
|
|
NM_001267550.2(TTN):c.40634-5T>C
|
rs904821775
|
|
NM_001267550.2(TTN):c.40666G>A (p.Glu13556Lys)
|
rs781066709
|
|
NM_001267550.2(TTN):c.40723+1del
|
rs876658058
|
|
NM_001267550.2(TTN):c.40739C>T (p.Pro13580Leu)
|
|
|
NM_001267550.2(TTN):c.40866A>T (p.Gly13622=)
|
|
|
NM_001267550.2(TTN):c.40915G>T (p.Gly13639Cys)
|
|
|
NM_001267550.2(TTN):c.4092_4097del (p.Phe1365_Ala1366del)
|
|
|
NM_001267550.2(TTN):c.40951C>A (p.Pro13651Thr)
|
|
|
NM_001267550.2(TTN):c.40963G>A (p.Glu13655Lys)
|
rs727504198
|
|
NM_001267550.2(TTN):c.41032C>A (p.Leu13678Ile)
|
|
|
NM_001267550.2(TTN):c.41306C>T (p.Ser13769Phe)
|
|
|
NM_001267550.2(TTN):c.41329+2T>G
|
rs1553747489
|
|
NM_001267550.2(TTN):c.41341C>A (p.Arg13781Ser)
|
|
|
NM_001267550.2(TTN):c.41363_41368del (p.Glu13788_Glu13789del)
|
|
|
NM_001267550.2(TTN):c.41414A>G (p.Asn13805Ser)
|
rs1553747056
|
|
NM_001267550.2(TTN):c.41438G>A (p.Arg13813Lys)
|
|
|
NM_001267550.2(TTN):c.41561T>C (p.Val13854Ala)
|
|
|
NM_001267550.2(TTN):c.41851G>A (p.Gly13951Arg)
|
|
|
NM_001267550.2(TTN):c.41884+4T>C
|
|
|
NM_001267550.2(TTN):c.41884+5A>C
|
|
|
NM_001267550.2(TTN):c.41924C>T (p.Thr13975Ile)
|
|
|
NM_001267550.2(TTN):c.41936A>G (p.Lys13979Arg)
|
|
|
NM_001267550.2(TTN):c.4220C>A (p.Pro1407Gln)
|
|
|
NM_001267550.2(TTN):c.42236G>A (p.Arg14079Gln)
|
|
|
NM_001267550.2(TTN):c.42386A>C (p.Lys14129Thr)
|
|
|
NM_001267550.2(TTN):c.42496T>A (p.Ser14166Thr)
|
|
|
NM_001267550.2(TTN):c.4276_4290del (p.1420ARMSP[3])
|
|
|
NM_001267550.2(TTN):c.42855C>G (p.Ile14285Met)
|
|
|
NM_001267550.2(TTN):c.42950G>A (p.Arg14317Gln)
|
rs727505144
|
|
NM_001267550.2(TTN):c.43025T>C (p.Leu14342Pro)
|
|
|
NM_001267550.2(TTN):c.43078G>A (p.Ala14360Thr)
|
|
|
NM_001267550.2(TTN):c.43079C>A (p.Ala14360Asp)
|
|
|
NM_001267550.2(TTN):c.43206A>G (p.Lys14402=)
|
|
|
NM_001267550.2(TTN):c.43213+4T>C
|
|
|
NM_001267550.2(TTN):c.43214-4T>C
|
|
|
NM_001267550.2(TTN):c.43214-5T>A
|
|
|
NM_001267550.2(TTN):c.43227C>G (p.Ile14409Met)
|
|
|
NM_001267550.2(TTN):c.43230C>A (p.Phe14410Leu)
|
|
|
NM_001267550.2(TTN):c.43261G>A (p.Glu14421Lys)
|
|
|
NM_001267550.2(TTN):c.43268A>G (p.Asp14423Gly)
|
|
|
NM_001267550.2(TTN):c.4330G>T (p.Glu1444Ter)
|
|
|
NM_001267550.2(TTN):c.43333C>G (p.Gln14445Glu)
|
|
|
NM_001267550.2(TTN):c.43374T>A (p.Asp14458Glu)
|
|
|
NM_001267550.2(TTN):c.43408G>C (p.Ala14470Pro)
|
|
|
NM_001267550.2(TTN):c.43469T>A (p.Leu14490Gln)
|
|
|
NM_001267550.2(TTN):c.43480+2T>C
|
|
|
NM_001267550.2(TTN):c.43502C>T (p.Thr14501Ile)
|
|
|
NM_001267550.2(TTN):c.43564C>G (p.His14522Asp)
|
|
|
NM_001267550.2(TTN):c.43646A>C (p.Lys14549Thr)
|
|
|
NM_001267550.2(TTN):c.43694A>C (p.Gln14565Pro)
|
|
|
NM_001267550.2(TTN):c.43696A>C (p.Ile14566Leu)
|
|
|
NM_001267550.2(TTN):c.43747+5G>C
|
rs878854308
|
|
NM_001267550.2(TTN):c.43749G>A (p.Glu14583=)
|
|
|
NM_001267550.2(TTN):c.43895TTA[1] (p.Ile14633del)
|
|
|
NM_001267550.2(TTN):c.43948T>C (p.Ser14650Pro)
|
|
|
NM_001267550.2(TTN):c.44017C>A (p.Arg14673=)
|
|
|
NM_001267550.2(TTN):c.44018G>A (p.Arg14673Gln)
|
|
|
NM_001267550.2(TTN):c.44060T>C (p.Met14687Thr)
|
|
|
NM_001267550.2(TTN):c.44137G>T (p.Ala14713Ser)
|
rs1476356250
|
|
NM_001267550.2(TTN):c.44154+2T>C
|
|
|
NM_001267550.2(TTN):c.44210G>T (p.Arg14737Leu)
|
rs373298007
|
|
NM_001267550.2(TTN):c.44275G>T (p.Val14759Phe)
|
|
|
NM_001267550.2(TTN):c.44281+5G>A
|
rs2059634223
|
|
NM_001267550.2(TTN):c.44300T>C (p.Leu14767Pro)
|
|
|
NM_001267550.2(TTN):c.44375T>A (p.Ile14792Asn)
|
rs747654057
|
|
NM_001267550.2(TTN):c.44465T>G (p.Leu14822Arg)
|
|
|
NM_001267550.2(TTN):c.44478G>C (p.Lys14826Asn)
|
|
|
NM_001267550.2(TTN):c.44481AGA[1] (p.Glu14828del)
|
rs727505315
|
|
NM_001267550.2(TTN):c.4451C>T (p.Pro1484Leu)
|
|
|
NM_001267550.2(TTN):c.44531C>G (p.Ala14844Gly)
|
rs1053826157
|
|
NM_001267550.2(TTN):c.44548+4A>G
|
|
|
NM_001267550.2(TTN):c.44573C>G (p.Pro14858Arg)
|
|
|
NM_001267550.2(TTN):c.44688G>T (p.Lys14896Asn)
|
|
|
NM_001267550.2(TTN):c.44736T>A (p.His14912Gln)
|
rs762830792
|
|
NM_001267550.2(TTN):c.44744C>T (p.Thr14915Ile)
|
|
|
NM_001267550.2(TTN):c.4475A>T (p.His1492Leu)
|
|
|
NM_001267550.2(TTN):c.44791A>G (p.Thr14931Ala)
|
|
|
NM_001267550.2(TTN):c.44792C>G (p.Thr14931Ser)
|
|
|
NM_001267550.2(TTN):c.44816-3del
|
|
|
NM_001267550.2(TTN):c.44816_44818CTC[1] (p.Pro14940del)
|
|
|
NM_001267550.2(TTN):c.44824G>A (p.Val14942Met)
|
rs786205391
|
|
NM_001267550.2(TTN):c.44840C>A (p.Pro14947Gln)
|
|
|
NM_001267550.2(TTN):c.44879G>A (p.Arg14960Gln)
|
|
|
NM_001267550.2(TTN):c.44914-3T>C
|
|
|
NM_001267550.2(TTN):c.44963A>T (p.Asp14988Val)
|
|
|
NM_001267550.2(TTN):c.45053C>A (p.Ala15018Glu)
|
rs72677221
|
|
NM_001267550.2(TTN):c.45089A>C (p.Glu15030Ala)
|
|
|
NM_001267550.2(TTN):c.45197G>A (p.Gly15066Glu)
|
|
|
NM_001267550.2(TTN):c.45305G>C (p.Cys15102Ser)
|
|
|
NM_001267550.2(TTN):c.4535C>T (p.Thr1512Ile)
|
|
|
NM_001267550.2(TTN):c.45448G>A (p.Val15150Ile)
|
|
|
NM_001267550.2(TTN):c.4547T>C (p.Ile1516Thr)
|
|
|
NM_001267550.2(TTN):c.454A>G (p.Ile152Val)
|
rs786205406
|
|
NM_001267550.2(TTN):c.45510_45519delinsC (p.Gly15171_Lys15173del)
|
rs1553717747
|
|
NM_001267550.2(TTN):c.45521G>A (p.Arg15174Lys)
|
|
|
NM_001267550.2(TTN):c.45617-5T>C
|
|
|
NM_001267550.2(TTN):c.4561A>C (p.Thr1521Pro)
|
rs1574674545
|
|
NM_001267550.2(TTN):c.45848A>G (p.Asn15283Ser)
|
|
|
NM_001267550.2(TTN):c.45887TAG[1] (p.Val15297del)
|
|
|
NM_001267550.2(TTN):c.4592_4596del (p.Val1531fs)
|
rs1131691910
|
|
NM_001267550.2(TTN):c.45986A>G (p.Asn15329Ser)
|
rs371734564
|
|
NM_001267550.2(TTN):c.4598A>G (p.Gln1533Arg)
|
|
|
NM_001267550.2(TTN):c.46061A>G (p.Tyr15354Cys)
|
rs886038861
|
|
NM_001267550.2(TTN):c.46078_46092del (p.Ile15360_Gly15364del)
|
rs727505075
|
|
NM_001267550.2(TTN):c.46166C>T (p.Ala15389Val)
|
|
|
NM_001267550.2(TTN):c.46225G>A (p.Val15409Ile)
|
|
|
NM_001267550.2(TTN):c.46232_46234del (p.Ser15411del)
|
|
|
NM_001267550.2(TTN):c.46304+3A>G
|
|
|
NM_001267550.2(TTN):c.46365TGA[1] (p.Asp15456del)
|
|
|
NM_001267550.2(TTN):c.46365TGA[3] (p.Asp15456_Glu15457insAsp)
|
|
|
NM_001267550.2(TTN):c.4642G>T (p.Glu1548Ter)
|
|
|
NM_001267550.2(TTN):c.4646-5T>A
|
rs750400475
|
|
NM_001267550.2(TTN):c.46565G>T (p.Gly15522Val)
|
rs1246339782
|
|
NM_001267550.2(TTN):c.46966G>A (p.Asp15656Asn)
|
rs727504572
|
|
NM_001267550.2(TTN):c.46985G>A (p.Arg15662His)
|
|
|
NM_001267550.2(TTN):c.47060G>A (p.Ser15687Asn)
|
|
|
NM_001267550.2(TTN):c.47145G>C (p.Glu15715Asp)
|
|
|
NM_001267550.2(TTN):c.4714C>T (p.Arg1572Ter)
|
rs1554008881
|
|
NM_001267550.2(TTN):c.47230G>A (p.Val15744Ile)
|
|
|
NM_001267550.2(TTN):c.47233G>A (p.Glu15745Lys)
|
|
|
NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs)
|
rs756433029
|
|
NM_001267550.2(TTN):c.47308G>A (p.Val15770Met)
|
|
|
NM_001267550.2(TTN):c.4741G>A (p.Gly1581Ser)
|
|
|
NM_001267550.2(TTN):c.47443G>A (p.Asp15815Asn)
|
|
|
NM_001267550.2(TTN):c.4749_4754del (p.1582NP[1])
|
rs1242020329
|
|
NM_001267550.2(TTN):c.47574G>C (p.Glu15858Asp)
|
|
|
NM_001267550.2(TTN):c.47765C>T (p.Thr15922Ile)
|
|
|
NM_001267550.2(TTN):c.47848G>A (p.Gly15950Ser)
|
|
|
NM_001267550.2(TTN):c.47875+4_47875+7del
|
rs753206674
|
|
NM_001267550.2(TTN):c.47917G>A (p.Glu15973Lys)
|
|
|
NM_001267550.2(TTN):c.4821A>C (p.Glu1607Asp)
|
|
|
NM_001267550.2(TTN):c.48245A>G (p.Asp16082Gly)
|
|
|
NM_001267550.2(TTN):c.48286G>A (p.Glu16096Lys)
|
|
|
NM_001267550.2(TTN):c.48295C>T (p.Arg16099Trp)
|
|
|
NM_001267550.2(TTN):c.482T>C (p.Leu161Ser)
|
|
|
NM_001267550.2(TTN):c.48326_48331del (p.Val16109_Thr16110del)
|
|
|
NM_001267550.2(TTN):c.4852G>T (p.Asp1618Tyr)
|
rs794727465
|
|
NM_001267550.2(TTN):c.48557G>T (p.Arg16186Leu)
|
rs769784536
|
|
NM_001267550.2(TTN):c.48638+5G>T
|
rs397517594
|
|
NM_001267550.2(TTN):c.48638+5del
|
rs2057135287
|
|
NM_001267550.2(TTN):c.48671G>C (p.Trp16224Ser)
|
rs886055270
|
|
NM_001267550.2(TTN):c.48727C>G (p.Pro16243Ala)
|
rs72677242
|
|
NM_001267550.2(TTN):c.48728C>T (p.Pro16243Leu)
|
|
|
NM_001267550.2(TTN):c.48742C>A (p.Gln16248Lys)
|
|
|
NM_001267550.2(TTN):c.48850G>A (p.Gly16284Arg)
|
rs368527534
|
|
NM_001267550.2(TTN):c.48991_48993del (p.Ile16331del)
|
rs886039052
|
|
NM_001267550.2(TTN):c.49102T>C (p.Cys16368Arg)
|
|
|
NM_001267550.2(TTN):c.49127G>A (p.Arg16376His)
|
rs746306518
|
|
NM_001267550.2(TTN):c.49205C>T (p.Ser16402Leu)
|
|
|
NM_001267550.2(TTN):c.4921A>G (p.Thr1641Ala)
|
|
|
NM_001267550.2(TTN):c.49300G>C (p.Gly16434Arg)
|
|
|
NM_001267550.2(TTN):c.49358C>T (p.Pro16453Leu)
|
|
|
NM_001267550.2(TTN):c.49567T>C (p.Phe16523Leu)
|
rs1553700258
|
|
NM_001267550.2(TTN):c.49649A>T (p.Asp16550Val)
|
|
|
NM_001267550.2(TTN):c.49663C>A (p.Pro16555Thr)
|
|
|
NM_001267550.2(TTN):c.4967C>T (p.Pro1656Leu)
|
|
|
NM_001267550.2(TTN):c.49739G>A (p.Gly16580Asp)
|
|
|
NM_001267550.2(TTN):c.49852G>A (p.Gly16618Arg)
|
|
|
NM_001267550.2(TTN):c.49889A>C (p.Lys16630Thr)
|
|
|
NM_001267550.2(TTN):c.49905ACCCAGTGA[1] (p.16635EPS[1])
|
rs942590648
|
|
NM_001267550.2(TTN):c.49914A>T (p.Glu16638Asp)
|
|
|
NM_001267550.2(TTN):c.49949-1G>T
|
|
|
NM_001267550.2(TTN):c.4994G>T (p.Gly1665Val)
|
|
|
NM_001267550.2(TTN):c.49967G>A (p.Arg16656His)
|
|
|
NM_001267550.2(TTN):c.50023C>A (p.Pro16675Thr)
|
|
|
NM_001267550.2(TTN):c.50039G>T (p.Gly16680Val)
|
rs886038912
|
|
NM_001267550.2(TTN):c.50096A>G (p.Gln16699Arg)
|
|
|
NM_001267550.2(TTN):c.5009A>G (p.Lys1670Arg)
|
|
|
NM_001267550.2(TTN):c.50189C>T (p.Ala16730Val)
|
rs763483590
|
|
NM_001267550.2(TTN):c.50215A>G (p.Ile16739Val)
|
rs1553698265
|
|
NM_001267550.2(TTN):c.50230C>G (p.Leu16744Val)
|
rs1553698214
|
|
NM_001267550.2(TTN):c.50389C>T (p.Arg16797Cys)
|
|
|
NM_001267550.2(TTN):c.5047C>T (p.Arg1683Ter)
|
rs587780490
|
|
NM_001267550.2(TTN):c.50552-1G>A
|
|
|
NM_001267550.2(TTN):c.50701A>G (p.Arg16901Gly)
|
|
|
NM_001267550.2(TTN):c.50713C>T (p.Arg16905Cys)
|
rs267599049
|
|
NM_001267550.2(TTN):c.50717C>A (p.Pro16906Gln)
|
|
|
NM_001267550.2(TTN):c.50721_50723dup (p.Lys16908_Asp16909insLys)
|
|
|
NM_001267550.2(TTN):c.50891T>C (p.Ile16964Thr)
|
rs794729453
|
|
NM_001267550.2(TTN):c.50899A>G (p.Ile16967Val)
|
|
|
NM_001267550.2(TTN):c.50995_50997dup (p.Asp16999_Arg17000insAsp)
|
|
|
NM_001267550.2(TTN):c.51063T>A (p.Asp17021Glu)
|
|
|
NM_001267550.2(TTN):c.51257G>A (p.Arg17086His)
|
|
|
NM_001267550.2(TTN):c.51334A>G (p.Ile17112Val)
|
|
|
NM_001267550.2(TTN):c.51382G>A (p.Gly17128Ser)
|
|
|
NM_001267550.2(TTN):c.51411T>G (p.Asn17137Lys)
|
|
|
NM_001267550.2(TTN):c.51416T>A (p.Val17139Asp)
|
|
|
NM_001267550.2(TTN):c.51460G>A (p.Val17154Ile)
|
|
|
NM_001267550.2(TTN):c.51540G>A (p.Met17180Ile)
|
rs879015830
|
|
NM_001267550.2(TTN):c.51632G>A (p.Gly17211Glu)
|
|
|
NM_001267550.2(TTN):c.51682G>A (p.Ala17228Thr)
|
|
|
NM_001267550.2(TTN):c.51707C>T (p.Ala17236Val)
|
rs1041202552
|
|
NM_001267550.2(TTN):c.51711TCC[1] (p.Pro17239del)
|
rs776868393
|
|
NM_001267550.2(TTN):c.51739+1G>C
|
rs727504799
|
|
NM_001267550.2(TTN):c.5201T>C (p.Met1734Thr)
|
|
|
NM_001267550.2(TTN):c.52031A>G (p.His17344Arg)
|
|
|
NM_001267550.2(TTN):c.52065C>T (p.His17355=)
|
|
|
NM_001267550.2(TTN):c.52103-3T>G
|
|
|
NM_001267550.2(TTN):c.52259T>C (p.Val17420Ala)
|
|
|
NM_001267550.2(TTN):c.52460T>C (p.Met17487Thr)
|
|
|
NM_001267550.2(TTN):c.52607_52609del (p.Glu17536del)
|
rs755947249
|
|
NM_001267550.2(TTN):c.52629A>G (p.Arg17543=)
|
rs748001472
|
|
NM_001267550.2(TTN):c.5268del (p.Glu1756fs)
|
|
|
NM_001267550.2(TTN):c.52693C>G (p.His17565Asp)
|
rs370126872
|
|
NM_001267550.2(TTN):c.526G>C (p.Val176Leu)
|
|
|
NM_001267550.2(TTN):c.52798G>A (p.Glu17600Lys)
|
|
|
NM_001267550.2(TTN):c.52928G>T (p.Arg17643Leu)
|
|
|
NM_001267550.2(TTN):c.52945G>A (p.Ala17649Thr)
|
|
|
NM_001267550.2(TTN):c.53080G>C (p.Ala17694Pro)
|
rs727503611
|
|
NM_001267550.2(TTN):c.53096G>C (p.Arg17699Pro)
|
rs72646808
|
|
NM_001267550.2(TTN):c.53287+3A>G
|
rs886043039
|
|
NM_001267550.2(TTN):c.53290G>A (p.Val17764Ile)
|
rs886039115
|
|
NM_001267550.2(TTN):c.53536G>T (p.Gly17846Cys)
|
|
|
NM_001267550.2(TTN):c.53546T>C (p.Val17849Ala)
|
|
|
NM_001267550.2(TTN):c.53551A>G (p.Ile17851Val)
|
|
|
NM_001267550.2(TTN):c.53669G>A (p.Gly17890Asp)
|
|
|
NM_001267550.2(TTN):c.53831G>A (p.Gly17944Asp)
|
|
|
NM_001267550.2(TTN):c.53881+3_53881+4delinsAA
|
|
|
NM_001267550.2(TTN):c.53881+5G>T
|
rs753527304
|
|
NM_001267550.2(TTN):c.53903G>C (p.Arg17968Pro)
|
rs200100660
|
|
NM_001267550.2(TTN):c.5395dup (p.Ser1799fs)
|
rs1064796474
|
|
NM_001267550.2(TTN):c.5404dup (p.Glu1802fs)
|
|
|
NM_001267550.2(TTN):c.54070A>C (p.Ser18024Arg)
|
|
|
NM_001267550.2(TTN):c.54167G>T (p.Arg18056Leu)
|
|
|
NM_001267550.2(TTN):c.54230T>C (p.Ile18077Thr)
|
|
|
NM_001267550.2(TTN):c.54467A>G (p.Asp18156Gly)
|
|
|
NM_001267550.2(TTN):c.54559T>G (p.Trp18187Gly)
|
|
|
NM_001267550.2(TTN):c.54589C>G (p.Pro18197Ala)
|
|
|
NM_001267550.2(TTN):c.5460_5466delinsAGT (p.Arg1821fs)
|
rs1554007128
|
|
NM_001267550.2(TTN):c.54656C>T (p.Ala18219Val)
|
|
|
NM_001267550.2(TTN):c.54674G>T (p.Gly18225Val)
|
rs886038866
|
|
NM_001267550.2(TTN):c.54790G>A (p.Glu18264Lys)
|
|
|
NM_001267550.2(TTN):c.54812-5A>C
|
|
|
NM_001267550.2(TTN):c.54932T>C (p.Met18311Thr)
|
rs1553676016
|
|
NM_001267550.2(TTN):c.54974C>G (p.Pro18325Arg)
|
|
|
NM_001267550.2(TTN):c.54993_55007delinsTAATCTGAAAGA (p.Cys18332_Val18336delinsAsnLeuLysGlu)
|
|
|
NM_001267550.2(TTN):c.55121-5T>C
|
|
|
NM_001267550.2(TTN):c.5513del (p.Lys1838fs)
|
rs1554007001
|
|
NM_001267550.2(TTN):c.55222C>T (p.Pro18408Ser)
|
|
|
NM_001267550.2(TTN):c.55243G>A (p.Asp18415Asn)
|
|
|
NM_001267550.2(TTN):c.55288C>T (p.Pro18430Ser)
|
|
|
NM_001267550.2(TTN):c.5534T>A (p.Leu1845Ter)
|
|
|
NM_001267550.2(TTN):c.55487G>A (p.Cys18496Tyr)
|
|
|
NM_001267550.2(TTN):c.55664C>T (p.Ala18555Val)
|
|
|
NM_001267550.2(TTN):c.556A>T (p.Thr186Ser)
|
|
|
NM_001267550.2(TTN):c.55757T>C (p.Leu18586Pro)
|
|
|
NM_001267550.2(TTN):c.55916T>C (p.Val18639Ala)
|
|
|
NM_001267550.2(TTN):c.55964A>G (p.Tyr18655Cys)
|
|
|
NM_001267550.2(TTN):c.55991C>T (p.Ala18664Val)
|
|
|
NM_001267550.2(TTN):c.56120A>G (p.Lys18707Arg)
|
|
|
NM_001267550.2(TTN):c.56225T>A (p.Val18742Glu)
|
|
|
NM_001267550.2(TTN):c.56288C>T (p.Thr18763Ile)
|
|
|
NM_001267550.2(TTN):c.56311G>A (p.Gly18771Arg)
|
|
|
NM_001267550.2(TTN):c.56465T>C (p.Ile18822Thr)
|
|
|
NM_001267550.2(TTN):c.56675C>A (p.Thr18892Lys)
|
|
|
NM_001267550.2(TTN):c.5669G>A (p.Arg1890His)
|
|
|
NM_001267550.2(TTN):c.56738G>A (p.Gly18913Asp)
|
|
|
NM_001267550.2(TTN):c.56748G>C (p.Val18916=)
|
|
|
NM_001267550.2(TTN):c.5674del (p.Asp1892fs)
|
rs2154346038
|
|
NM_001267550.2(TTN):c.56755T>C (p.Tyr18919His)
|
|
|
NM_001267550.2(TTN):c.56879A>G (p.Gln18960Arg)
|
|
|
NM_001267550.2(TTN):c.57052T>G (p.Ser19018Ala)
|
|
|
NM_001267550.2(TTN):c.57074T>C (p.Val19025Ala)
|
|
|
NM_001267550.2(TTN):c.57083AAG[2] (p.Glu19030del)
|
rs749887998
|
|
NM_001267550.2(TTN):c.57111+3A>G
|
rs374844230
|
|
NM_001267550.2(TTN):c.57263-2A>G
|
|
|
NM_001267550.2(TTN):c.57311T>C (p.Val19104Ala)
|
|
|
NM_001267550.2(TTN):c.5762T>C (p.Ile1921Thr)
|
rs786205318
|
|
NM_001267550.2(TTN):c.57697C>T (p.Pro19233Ser)
|
|
|
NM_001267550.2(TTN):c.57773T>C (p.Ile19258Thr)
|
|
|
NM_001267550.2(TTN):c.5779C>T (p.Leu1927Phe)
|
rs1370515925
|
|
NM_001267550.2(TTN):c.57824C>T (p.Ala19275Val)
|
|
|
NM_001267550.2(TTN):c.57829G>T (p.Val19277Phe)
|
|
|
NM_001267550.2(TTN):c.57844A>G (p.Ile19282Val)
|
rs779849364
|
|
NM_001267550.2(TTN):c.57847+1G>A
|
rs397517631
|
|
NM_001267550.2(TTN):c.57847+5_57847+8del
|
rs587782988
|
|
NM_001267550.2(TTN):c.57923C>T (p.Pro19308Leu)
|
|
|
NM_001267550.2(TTN):c.58037T>C (p.Val19346Ala)
|
rs754793079
|
|
NM_001267550.2(TTN):c.58192A>G (p.Ile19398Val)
|
|
|
NM_001267550.2(TTN):c.58274C>T (p.Ala19425Val)
|
|
|
NM_001267550.2(TTN):c.58328C>G (p.Ala19443Gly)
|
rs1360001030
|
|
NM_001267550.2(TTN):c.58444C>G (p.Pro19482Ala)
|
|
|
NM_001267550.2(TTN):c.58456C>G (p.Pro19486Ala)
|
|
|
NM_001267550.2(TTN):c.58499C>T (p.Ser19500Phe)
|
|
|
NM_001267550.2(TTN):c.58564G>A (p.Val19522Met)
|
|
|
NM_001267550.2(TTN):c.58585C>A (p.Pro19529Thr)
|
|
|
NM_001267550.2(TTN):c.58624T>C (p.Ser19542Pro)
|
|
|
NM_001267550.2(TTN):c.58684A>G (p.Ile19562Val)
|
rs397517637
|
|
NM_001267550.2(TTN):c.58759A>G (p.Ile19587Val)
|
rs916546048
|
|
NM_001267550.2(TTN):c.58783T>A (p.Ser19595Thr)
|
|
|
NM_001267550.2(TTN):c.59036-3T>C
|
|
|
NM_001267550.2(TTN):c.59189C>T (p.Ala19730Val)
|
|
|
NM_001267550.2(TTN):c.59213C>T (p.Pro19738Leu)
|
|
|
NM_001267550.2(TTN):c.59242C>T (p.Arg19748Trp)
|
|
|
NM_001267550.2(TTN):c.59369C>G (p.Ala19790Gly)
|
|
|
NM_001267550.2(TTN):c.59504T>G (p.Val19835Gly)
|
rs727504511
|
|
NM_001267550.2(TTN):c.5951G>T (p.Arg1984Ile)
|
|
|
NM_001267550.2(TTN):c.59536A>C (p.Asn19846His)
|
|
|
NM_001267550.2(TTN):c.59570T>C (p.Leu19857Ser)
|
rs547180437
|
|
NM_001267550.2(TTN):c.59662G>A (p.Glu19888Lys)
|
|
|
NM_001267550.2(TTN):c.59684A>G (p.Tyr19895Cys)
|
|
|
NM_001267550.2(TTN):c.59719_59720insATT (p.Gly19906_Ser19907insTyr)
|
|
|
NM_001267550.2(TTN):c.59740G>A (p.Val19914Ile)
|
|
|
NM_001267550.2(TTN):c.5993G>A (p.Arg1998His)
|
rs144135510
|
|
NM_001267550.2(TTN):c.5993G>T (p.Arg1998Leu)
|
rs144135510
|
|
NM_001267550.2(TTN):c.59965G>A (p.Val19989Ile)
|
rs1021499065
|
|
NM_001267550.2(TTN):c.60007C>G (p.Arg20003Gly)
|
rs1039014549
|
|
NM_001267550.2(TTN):c.60086C>A (p.Thr20029Asn)
|
|
|
NM_001267550.2(TTN):c.60163A>G (p.Ile20055Val)
|
|
|
NM_001267550.2(TTN):c.60202G>C (p.Glu20068Gln)
|
|
|
NM_001267550.2(TTN):c.6029A>G (p.Tyr2010Cys)
|
rs397517672
|
|
NM_001267550.2(TTN):c.60343G>C (p.Asp20115His)
|
|
|
NM_001267550.2(TTN):c.6034G>A (p.Ala2012Thr)
|
|
|
NM_001267550.2(TTN):c.60472G>T (p.Gly20158Cys)
|
|
|
NM_001267550.2(TTN):c.60484G>A (p.Val20162Ile)
|
|
|
NM_001267550.2(TTN):c.60550G>A (p.Val20184Ile)
|
|
|
NM_001267550.2(TTN):c.60613A>G (p.Ile20205Val)
|
|
|
NM_001267550.2(TTN):c.6062G>T (p.Arg2021Leu)
|
|
|
NM_001267550.2(TTN):c.60755T>G (p.Ile20252Arg)
|
|
|
NM_001267550.2(TTN):c.60812C>G (p.Pro20271Arg)
|
|
|
NM_001267550.2(TTN):c.60814C>T (p.Pro20272Ser)
|
|
|
NM_001267550.2(TTN):c.61007A>G (p.Tyr20336Cys)
|
|
|
NM_001267550.2(TTN):c.61024G>A (p.Glu20342Lys)
|
|
|
NM_001267550.2(TTN):c.61040C>A (p.Ala20347Asp)
|
|
|
NM_001267550.2(TTN):c.61066C>T (p.Pro20356Ser)
|
|
|
NM_001267550.2(TTN):c.61142A>G (p.Lys20381Arg)
|
rs886039098
|
|
NM_001267550.2(TTN):c.61244_61245delinsAG (p.Thr20415Lys)
|
|
|
NM_001267550.2(TTN):c.61336C>T (p.Arg20446Cys)
|
|
|
NM_001267550.2(TTN):c.61370A>C (p.Glu20457Ala)
|
rs541930965
|
|
NM_001267550.2(TTN):c.61640A>C (p.Tyr20547Ser)
|
|
|
NM_001267550.2(TTN):c.61670A>G (p.His20557Arg)
|
rs1472565206
|
|
NM_001267550.2(TTN):c.61717T>C (p.Cys20573Arg)
|
rs780691741
|
|
NM_001267550.2(TTN):c.6172A>G (p.Lys2058Glu)
|
rs786205405
|
|
NM_001267550.2(TTN):c.6181A>T (p.Ile2061Phe)
|
|
|
NM_001267550.2(TTN):c.61955C>G (p.Pro20652Arg)
|
|
|
NM_001267550.2(TTN):c.61958C>T (p.Thr20653Ile)
|
rs1553641323
|
|
NM_001267550.2(TTN):c.61967C>T (p.Thr20656Ile)
|
rs1363633199
|
|
NM_001267550.2(TTN):c.62068C>T (p.Arg20690Trp)
|
|
|
NM_001267550.2(TTN):c.62284G>C (p.Val20762Leu)
|
|
|
NM_001267550.2(TTN):c.62301A>C (p.Gln20767His)
|
|
|
NM_001267550.2(TTN):c.62332G>T (p.Val20778Phe)
|
|
|
NM_001267550.2(TTN):c.62411C>A (p.Thr20804Asn)
|
rs1218971734
|
|
NM_001267550.2(TTN):c.6248G>T (p.Arg2083Ile)
|
|
|
NM_001267550.2(TTN):c.62566T>C (p.Tyr20856His)
|
|
|
NM_001267550.2(TTN):c.62569G>A (p.Ala20857Thr)
|
|
|
NM_001267550.2(TTN):c.62681G>A (p.Cys20894Tyr)
|
rs370080086
|
|
NM_001267550.2(TTN):c.62801A>G (p.Tyr20934Cys)
|
|
|
NM_001267550.2(TTN):c.62861C>A (p.Pro20954Gln)
|
|
|
NM_001267550.2(TTN):c.62867T>C (p.Ile20956Thr)
|
|
|
NM_001267550.2(TTN):c.6292C>T (p.Arg2098Trp)
|
rs763722868
|
|
NM_001267550.2(TTN):c.62931AGA[1] (p.Glu20979del)
|
rs727505236
|
|
NM_001267550.2(TTN):c.62936A>C (p.Glu20979Ala)
|
rs375728230
|
|
NM_001267550.2(TTN):c.62979G>C (p.Lys20993Asn)
|
|
|
NM_001267550.2(TTN):c.6301G>A (p.Val2101Ile)
|
|
|
NM_001267550.2(TTN):c.63069G>C (p.Met21023Ile)
|
rs1060500596
|
|
NM_001267550.2(TTN):c.63187+5G>A
|
rs1292388582
|
|
NM_001267550.2(TTN):c.63272_63298dup (p.Asp21091_Tyr21099dup)
|
rs750904641
|
|
NM_001267550.2(TTN):c.63304G>A (p.Glu21102Lys)
|
|
|
NM_001267550.2(TTN):c.63323C>T (p.Ala21108Val)
|
rs769906829
|
|
NM_001267550.2(TTN):c.63329C>T (p.Ala21110Val)
|
rs370687831
|
|
NM_001267550.2(TTN):c.63335C>T (p.Pro21112Leu)
|
|
|
NM_001267550.2(TTN):c.63373C>T (p.Leu21125Phe)
|
|
|
NM_001267550.2(TTN):c.6341A>G (p.Asn2114Ser)
|
|
|
NM_001267550.2(TTN):c.63528_63530delinsTGG (p.Leu21176_Asp21177delinsPheGly)
|
|
|
NM_001267550.2(TTN):c.63665T>G (p.Val21222Gly)
|
|
|
NM_001267550.2(TTN):c.6368G>A (p.Arg2123Gln)
|
rs530807674
|
|
NM_001267550.2(TTN):c.63712C>T (p.Arg21238Cys)
|
|
|
NM_001267550.2(TTN):c.63770T>C (p.Val21257Ala)
|
rs1553637142
|
|
NM_001267550.2(TTN):c.6381C>G (p.Tyr2127Ter)
|
rs2092121151
|
|
NM_001267550.2(TTN):c.63934A>C (p.Thr21312Pro)
|
|
|
NM_001267550.2(TTN):c.63944C>A (p.Thr21315Asn)
|
|
|
NM_001267550.2(TTN):c.63986A>G (p.Asn21329Ser)
|
|
|
NM_001267550.2(TTN):c.64003G>A (p.Glu21335Lys)
|
|
|
NM_001267550.2(TTN):c.64093+4_64093+7del
|
rs1437065772
|
|
NM_001267550.2(TTN):c.64100C>A (p.Pro21367Gln)
|
rs754581725
|
|
NM_001267550.2(TTN):c.64204A>G (p.Ile21402Val)
|
rs1157697777
|
|
NM_001267550.2(TTN):c.64218AGA[2] (p.Glu21409del)
|
|
|
NM_001267550.2(TTN):c.64245G>T (p.Trp21415Cys)
|
|
|
NM_001267550.2(TTN):c.64325C>T (p.Ala21442Val)
|
|
|
NM_001267550.2(TTN):c.6439G>A (p.Ala2147Thr)
|
|
|
NM_001267550.2(TTN):c.6445A>G (p.Ile2149Val)
|
rs967525723
|
|
NM_001267550.2(TTN):c.6449T>C (p.Met2150Thr)
|
|
|
NM_001267550.2(TTN):c.6451G>C (p.Val2151Leu)
|
|
|
NM_001267550.2(TTN):c.64535A>T (p.His21512Leu)
|
|
|
NM_001267550.2(TTN):c.64685C>G (p.Pro21562Arg)
|
|
|
NM_001267550.2(TTN):c.64717G>C (p.Asp21573His)
|
|
|
NM_001267550.2(TTN):c.64859G>A (p.Arg21620Lys)
|
|
|
NM_001267550.2(TTN):c.64981A>G (p.Ser21661Gly)
|
|
|
NM_001267550.2(TTN):c.65074A>G (p.Ile21692Val)
|
|
|
NM_001267550.2(TTN):c.65144G>A (p.Arg21715Gln)
|
rs368450785
|
|
NM_001267550.2(TTN):c.65194T>C (p.Phe21732Leu)
|
rs397517661
|
|
NM_001267550.2(TTN):c.65260G>C (p.Ala21754Pro)
|
|
|
NM_001267550.2(TTN):c.65334G>T (p.Trp21778Cys)
|
|
|
NM_001267550.2(TTN):c.65338C>T (p.Arg21780Cys)
|
|
|
NM_001267550.2(TTN):c.65380G>A (p.Val21794Ile)
|
rs373848128
|
|
NM_001267550.2(TTN):c.65380G>T (p.Val21794Leu)
|
|
|
NM_001267550.2(TTN):c.65390G>A (p.Cys21797Tyr)
|
|
|
NM_001267550.2(TTN):c.65429C>T (p.Ala21810Val)
|
|
|
NM_001267550.2(TTN):c.65647T>G (p.Leu21883Val)
|
rs754416903
|
|
NM_001267550.2(TTN):c.6571A>G (p.Met2191Val)
|
|
|
NM_001267550.2(TTN):c.65855A>T (p.Lys21952Ile)
|
|
|
NM_001267550.2(TTN):c.658C>T (p.Arg220Ter)
|
rs748313513
|
|
NM_001267550.2(TTN):c.65906A>G (p.Tyr21969Cys)
|
|
|
NM_001267550.2(TTN):c.65939C>G (p.Pro21980Arg)
|
|
|
NM_001267550.2(TTN):c.659G>T (p.Arg220Leu)
|
|
|
NM_001267550.2(TTN):c.66081G>T (p.Gln22027His)
|
rs886038775
|
|
NM_001267550.2(TTN):c.66152A>C (p.Asn22051Thr)
|
|
|
NM_001267550.2(TTN):c.6625A>C (p.Lys2209Gln)
|
|
|
NM_001267550.2(TTN):c.66345A>C (p.Leu22115Phe)
|
|
|
NM_001267550.2(TTN):c.66364G>A (p.Glu22122Lys)
|
|
|
NM_001267550.2(TTN):c.66385C>T (p.Arg22129Cys)
|
rs763729258
|
|
NM_001267550.2(TTN):c.66461A>C (p.Gln22154Pro)
|
|
|
NM_001267550.2(TTN):c.66463+2_66463+3insTT
|
|
|
NM_001267550.2(TTN):c.66582A>G (p.Glu22194=)
|
|
|
NM_001267550.2(TTN):c.66646C>T (p.Arg22216Cys)
|
|
|
NM_001267550.2(TTN):c.66647G>A (p.Arg22216His)
|
|
|
NM_001267550.2(TTN):c.66730A>G (p.Ser22244Gly)
|
|
|
NM_001267550.2(TTN):c.66744T>A (p.Asp22248Glu)
|
|
|
NM_001267550.2(TTN):c.66760G>A (p.Asp22254Asn)
|
|
|
NM_001267550.2(TTN):c.669+1G>T
|
|
|
NM_001267550.2(TTN):c.66938C>G (p.Thr22313Ser)
|
|
|
NM_001267550.2(TTN):c.66940G>A (p.Asp22314Asn)
|
|
|
NM_001267550.2(TTN):c.67048A>G (p.Lys22350Glu)
|
|
|
NM_001267550.2(TTN):c.6720T>A (p.Asp2240Glu)
|
|
|
NM_001267550.2(TTN):c.67325C>T (p.Thr22442Ile)
|
|
|
NM_001267550.2(TTN):c.67327C>T (p.Arg22443Cys)
|
|
|
NM_001267550.2(TTN):c.67354C>T (p.Pro22452Ser)
|
|
|
NM_001267550.2(TTN):c.67363G>C (p.Val22455Leu)
|
|
|
NM_001267550.2(TTN):c.67445G>T (p.Arg22482Leu)
|
|
|
NM_001267550.2(TTN):c.67462G>A (p.Val22488Ile)
|
rs1553622498
|
|
NM_001267550.2(TTN):c.67495C>G (p.Arg22499Gly)
|
rs574660186
|
|
NM_001267550.2(TTN):c.67503G>A (p.Met22501Ile)
|
|
|
NM_001267550.2(TTN):c.67615G>A (p.Val22539Ile)
|
|
|
NM_001267550.2(TTN):c.67637-1G>T
|
|
|
NM_001267550.2(TTN):c.67660G>C (p.Gly22554Arg)
|
rs769525101
|
|
NM_001267550.2(TTN):c.67741T>A (p.Ser22581Thr)
|
|
|
NM_001267550.2(TTN):c.6788A>T (p.Glu2263Val)
|
|
|
NM_001267550.2(TTN):c.67918G>A (p.Val22640Ile)
|
rs750093105
|
|
NM_001267550.2(TTN):c.67926C>T (p.Gly22642=)
|
|
|
NM_001267550.2(TTN):c.68003C>A (p.Pro22668Gln)
|
|
|
NM_001267550.2(TTN):c.68048A>G (p.Lys22683Arg)
|
|
|
NM_001267550.2(TTN):c.68064CAA[1] (p.Asn22689del)
|
|
|
NM_001267550.2(TTN):c.68074G>T (p.Val22692Leu)
|
|
|
NM_001267550.2(TTN):c.68092G>T (p.Val22698Phe)
|
|
|
NM_001267550.2(TTN):c.68137G>A (p.Glu22713Lys)
|
rs895744220
|
|
NM_001267550.2(TTN):c.68224+5G>A
|
|
|
NM_001267550.2(TTN):c.68260G>A (p.Asp22754Asn)
|
|
|
NM_001267550.2(TTN):c.6832G>T (p.Val2278Phe)
|
|
|
NM_001267550.2(TTN):c.6835C>T (p.Pro2279Ser)
|
rs143679901
|
|
NM_001267550.2(TTN):c.68360G>A (p.Ser22787Asn)
|
|
|
NM_001267550.2(TTN):c.68456T>C (p.Met22819Thr)
|
|
|
NM_001267550.2(TTN):c.68528-1G>T
|
|
|
NM_001267550.2(TTN):c.68537G>C (p.Gly22846Ala)
|
|
|
NM_001267550.2(TTN):c.68762C>T (p.Thr22921Ile)
|
rs534567766
|
|
NM_001267550.2(TTN):c.68819A>G (p.Glu22940Gly)
|
|
|
NM_001267550.2(TTN):c.69050A>C (p.Glu23017Ala)
|
|
|
NM_001267550.2(TTN):c.69127C>T (p.Pro23043Ser)
|
|
|
NM_001267550.2(TTN):c.6913G>A (p.Glu2305Lys)
|
rs367761468
|
|
NM_001267550.2(TTN):c.69227T>A (p.Ile23076Lys)
|
|
|
NM_001267550.2(TTN):c.69307A>C (p.Lys23103Gln)
|
|
|
NM_001267550.2(TTN):c.69359A>C (p.Tyr23120Ser)
|
rs1271048199
|
|
NM_001267550.2(TTN):c.69413-3C>A
|
|
|
NM_001267550.2(TTN):c.69476G>T (p.Ser23159Ile)
|
|
|
NM_001267550.2(TTN):c.69510A>C (p.Glu23170Asp)
|
|
|
NM_001267550.2(TTN):c.69526G>A (p.Val23176Ile)
|
|
|
NM_001267550.2(TTN):c.69541A>G (p.Lys23181Glu)
|
|
|
NM_001267550.2(TTN):c.69631G>C (p.Glu23211Gln)
|
rs1215669622
|
|
NM_001267550.2(TTN):c.69638G>C (p.Arg23213Pro)
|
|
|
NM_001267550.2(TTN):c.69715T>C (p.Tyr23239His)
|
|
|
NM_001267550.2(TTN):c.6973G>A (p.Val2325Ile)
|
|
|
NM_001267550.2(TTN):c.69806G>A (p.Gly23269Glu)
|
|
|
NM_001267550.2(TTN):c.69935A>G (p.Tyr23312Cys)
|
|
|
NM_001267550.2(TTN):c.69973G>C (p.Gly23325Arg)
|
|
|
NM_001267550.2(TTN):c.69997G>T (p.Val23333Phe)
|
|
|
NM_001267550.2(TTN):c.70009G>C (p.Glu23337Gln)
|
|
|
NM_001267550.2(TTN):c.70132T>C (p.Trp23378Arg)
|
|
|
NM_001267550.2(TTN):c.7021G>A (p.Asp2341Asn)
|
|
|
NM_001267550.2(TTN):c.70255A>C (p.Asn23419His)
|
|
|
NM_001267550.2(TTN):c.70391G>C (p.Gly23464Ala)
|
|
|
NM_001267550.2(TTN):c.70526T>C (p.Val23509Ala)
|
|
|
NM_001267550.2(TTN):c.7058-2A>G
|
|
|
NM_001267550.2(TTN):c.70777A>G (p.Arg23593Gly)
|
|
|
NM_001267550.2(TTN):c.71057C>T (p.Ala23686Val)
|
|
|
NM_001267550.2(TTN):c.71065A>G (p.Thr23689Ala)
|
|
|
NM_001267550.2(TTN):c.71114C>T (p.Pro23705Leu)
|
|
|
NM_001267550.2(TTN):c.71147G>A (p.Gly23716Asp)
|
rs774327480
|
|
NM_001267550.2(TTN):c.71158A>G (p.Thr23720Ala)
|
|
|
NM_001267550.2(TTN):c.71209G>A (p.Asp23737Asn)
|
|
|
NM_001267550.2(TTN):c.71224G>C (p.Asp23742His)
|
|
|
NM_001267550.2(TTN):c.71260G>C (p.Asp23754His)
|
rs985842925
|
|
NM_001267550.2(TTN):c.71453T>C (p.Ile23818Thr)
|
|
|
NM_001267550.2(TTN):c.71501A>C (p.Gln23834Pro)
|
rs757958768
|
|
NM_001267550.2(TTN):c.71557G>A (p.Asp23853Asn)
|
|
|
NM_001267550.2(TTN):c.71644C>G (p.Pro23882Ala)
|
|
|
NM_001267550.2(TTN):c.71678A>T (p.Asp23893Val)
|
|
|
NM_001267550.2(TTN):c.71679T>G (p.Asp23893Glu)
|
|
|
NM_001267550.2(TTN):c.71707G>A (p.Ala23903Thr)
|
|
|
NM_001267550.2(TTN):c.71717T>C (p.Met23906Thr)
|
|
|
NM_001267550.2(TTN):c.71761G>C (p.Ala23921Pro)
|
|
|
NM_001267550.2(TTN):c.71774T>C (p.Ile23925Thr)
|
|
|
NM_001267550.2(TTN):c.71913G>C (p.Trp23971Cys)
|
|
|
NM_001267550.2(TTN):c.71974G>C (p.Asp23992His)
|
|
|
NM_001267550.2(TTN):c.71C>A (p.Thr24Asn)
|
|
|
NM_001267550.2(TTN):c.71C>G (p.Thr24Ser)
|
|
|
NM_001267550.2(TTN):c.72116T>G (p.Val24039Gly)
|
|
|
NM_001267550.2(TTN):c.72139T>C (p.Phe24047Leu)
|
|
|
NM_001267550.2(TTN):c.72358C>G (p.Leu24120Val)
|
|
|
NM_001267550.2(TTN):c.72409T>C (p.Ser24137Pro)
|
|
|
NM_001267550.2(TTN):c.72430T>C (p.Trp24144Arg)
|
|
|
NM_001267550.2(TTN):c.72526G>C (p.Glu24176Gln)
|
rs1553609326
|
|
NM_001267550.2(TTN):c.72707A>T (p.Lys24236Ile)
|
|
|
NM_001267550.2(TTN):c.72710A>G (p.Asp24237Gly)
|
|
|
NM_001267550.2(TTN):c.72814T>C (p.Cys24272Arg)
|
|
|
NM_001267550.2(TTN):c.7286T>C (p.Ile2429Thr)
|
|
|
NM_001267550.2(TTN):c.72943_72949delinsACAAGGA (p.Tyr24315_Ala24317delinsThrArgThr)
|
|
|
NM_001267550.2(TTN):c.73011ATC[3] (p.Ser24339_Ile24340insSer)
|
|
|
NM_001267550.2(TTN):c.7301T>G (p.Leu2434Arg)
|
|
|
NM_001267550.2(TTN):c.73027G>A (p.Ala24343Thr)
|
|
|
NM_001267550.2(TTN):c.73042A>G (p.Ile24348Val)
|
|
|
NM_001267550.2(TTN):c.73175A>G (p.Asn24392Ser)
|
|
|
NM_001267550.2(TTN):c.73216G>A (p.Gly24406Arg)
|
|
|
NM_001267550.2(TTN):c.73234C>T (p.Leu24412Phe)
|
|
|
NM_001267550.2(TTN):c.73324G>A (p.Ala24442Thr)
|
|
|
NM_001267550.2(TTN):c.73456G>A (p.Val24486Ile)
|
|
|
NM_001267550.2(TTN):c.73594A>C (p.Thr24532Pro)
|
|
|
NM_001267550.2(TTN):c.73630C>T (p.Leu24544Phe)
|
|
|
NM_001267550.2(TTN):c.73651A>G (p.Ile24551Val)
|
|
|
NM_001267550.2(TTN):c.73724A>G (p.Lys24575Arg)
|
|
|
NM_001267550.2(TTN):c.73738G>A (p.Val24580Ile)
|
rs765510494
|
|
NM_001267550.2(TTN):c.73878G>A (p.Met24626Ile)
|
rs1060500561
|
|
NM_001267550.2(TTN):c.73987_73989del (p.Trp24663del)
|
|
|
NM_001267550.2(TTN):c.74274G>C (p.Gln24758His)
|
|
|
NM_001267550.2(TTN):c.7435T>G (p.Tyr2479Asp)
|
|
|
NM_001267550.2(TTN):c.7436A>G (p.Tyr2479Cys)
|
rs1554000863
|
|
NM_001267550.2(TTN):c.74597C>G (p.Thr24866Arg)
|
|
|
NM_001267550.2(TTN):c.74656G>A (p.Glu24886Lys)
|
|
|
NM_001267550.2(TTN):c.74663G>C (p.Arg24888Thr)
|
|
|
NM_001267550.2(TTN):c.74692G>A (p.Glu24898Lys)
|
|
|
NM_001267550.2(TTN):c.7469G>T (p.Arg2490Leu)
|
rs148920986
|
|
NM_001267550.2(TTN):c.74760_74767delinsAC (p.Ser24921_Asp24923delinsHis)
|
rs2154169263
|
|
NM_001267550.2(TTN):c.74921AAG[1] (p.Glu24975del)
|
|
|
NM_001267550.2(TTN):c.7492A>G (p.Thr2498Ala)
|
rs943280773
|
|
NM_001267550.2(TTN):c.74945G>A (p.Arg24982Lys)
|
|
|
NM_001267550.2(TTN):c.74968G>C (p.Gly24990Arg)
|
|
|
NM_001267550.2(TTN):c.7499A>G (p.Gln2500Arg)
|
|
|
NM_001267550.2(TTN):c.75010C>T (p.Arg25004Cys)
|
|
|
NM_001267550.2(TTN):c.7504C>A (p.Leu2502Ile)
|
|
|
NM_001267550.2(TTN):c.75065C>A (p.Ser25022Tyr)
|
|
|
NM_001267550.2(TTN):c.75127G>T (p.Val25043Phe)
|
rs559907766
|
|
NM_001267550.2(TTN):c.7528T>C (p.Ser2510Pro)
|
|
|
NM_001267550.2(TTN):c.752A>G (p.His251Arg)
|
rs587782983
|
|
NM_001267550.2(TTN):c.75385T>C (p.Phe25129Leu)
|
rs373411870
|
|
NM_001267550.2(TTN):c.75410G>C (p.Gly25137Ala)
|
|
|
NM_001267550.2(TTN):c.75451_75453del (p.Glu25151del)
|
rs886038885
|
|
NM_001267550.2(TTN):c.7573A>G (p.Asn2525Asp)
|
|
|
NM_001267550.2(TTN):c.75883C>A (p.Pro25295Thr)
|
|
|
NM_001267550.2(TTN):c.7628C>G (p.Thr2543Ser)
|
rs765136135
|
|
NM_001267550.2(TTN):c.76334G>A (p.Cys25445Tyr)
|
rs2154168053
|
|
NM_001267550.2(TTN):c.76339G>C (p.Val25447Leu)
|
|
|
NM_001267550.2(TTN):c.76382T>C (p.Ile25461Thr)
|
|
|
NM_001267550.2(TTN):c.76492C>G (p.Pro25498Ala)
|
rs377754701
|
|
NM_001267550.2(TTN):c.76499T>C (p.Ile25500Thr)
|
|
|
NM_001267550.2(TTN):c.76664C>T (p.Ala25555Val)
|
|
|
NM_001267550.2(TTN):c.76755C>G (p.Asn25585Lys)
|
|
|
NM_001267550.2(TTN):c.76802C>T (p.Thr25601Met)
|
rs374913031
|
|
NM_001267550.2(TTN):c.76811C>T (p.Pro25604Leu)
|
|
|
NM_001267550.2(TTN):c.76964G>A (p.Cys25655Tyr)
|
|
|
NM_001267550.2(TTN):c.77155T>C (p.Trp25719Arg)
|
|
|
NM_001267550.2(TTN):c.77249G>A (p.Arg25750Gln)
|
rs368038362
|
|
NM_001267550.2(TTN):c.77302C>A (p.Leu25768Ile)
|
rs541266544
|
|
NM_001267550.2(TTN):c.77332G>A (p.Gly25778Arg)
|
|
|
NM_001267550.2(TTN):c.77339G>A (p.Ser25780Asn)
|
rs555798738
|
|
NM_001267550.2(TTN):c.77624T>C (p.Val25875Ala)
|
|
|
NM_001267550.2(TTN):c.77633A>G (p.Gln25878Arg)
|
rs886038876
|
|
NM_001267550.2(TTN):c.77713G>A (p.Ala25905Thr)
|
|
|
NM_001267550.2(TTN):c.7778A>G (p.Asn2593Ser)
|
|
|
NM_001267550.2(TTN):c.7780A>G (p.Met2594Val)
|
|
|
NM_001267550.2(TTN):c.77818GTT[1] (p.Val25941del)
|
rs754571796
|
|
NM_001267550.2(TTN):c.78092A>G (p.Glu26031Gly)
|
|
|
NM_001267550.2(TTN):c.78123C>A (p.Asn26041Lys)
|
|
|
NM_001267550.2(TTN):c.78190A>G (p.Arg26064Gly)
|
|
|
NM_001267550.2(TTN):c.78248A>G (p.Tyr26083Cys)
|
|
|
NM_001267550.2(TTN):c.78295A>G (p.Met26099Val)
|
|
|
NM_001267550.2(TTN):c.78304A>G (p.Arg26102Gly)
|
|
|
NM_001267550.2(TTN):c.78371T>A (p.Ile26124Asn)
|
rs778290450
|
|
NM_001267550.2(TTN):c.78432T>G (p.Ile26144Met)
|
|
|
NM_001267550.2(TTN):c.78554A>G (p.Lys26185Arg)
|
|
|
NM_001267550.2(TTN):c.78944G>C (p.Gly26315Ala)
|
rs886039199
|
|
NM_001267550.2(TTN):c.79012G>T (p.Ala26338Ser)
|
|
|
NM_001267550.2(TTN):c.79052T>C (p.Leu26351Pro)
|
|
|
NM_001267550.2(TTN):c.79148C>T (p.Pro26383Leu)
|
rs1377015752
|
|
NM_001267550.2(TTN):c.7916T>G (p.Phe2639Cys)
|
rs794729580
|
|
NM_001267550.2(TTN):c.79241G>A (p.Gly26414Asp)
|
|
|
NM_001267550.2(TTN):c.79256T>C (p.Ile26419Thr)
|
|
|
NM_001267550.2(TTN):c.79267G>T (p.Val26423Leu)
|
|
|
NM_001267550.2(TTN):c.79316G>A (p.Arg26439His)
|
|
|
NM_001267550.2(TTN):c.79366G>A (p.Glu26456Lys)
|
|
|
NM_001267550.2(TTN):c.7950C>T (p.Gly2650=)
|
|
|
NM_001267550.2(TTN):c.79550G>A (p.Ser26517Asn)
|
|
|
NM_001267550.2(TTN):c.79562G>A (p.Gly26521Glu)
|
|
|
NM_001267550.2(TTN):c.79609G>C (p.Val26537Leu)
|
|
|
NM_001267550.2(TTN):c.7962G>C (p.Arg2654Ser)
|
|
|
NM_001267550.2(TTN):c.79802G>C (p.Gly26601Ala)
|
|
|
NM_001267550.2(TTN):c.79810G>T (p.Val26604Leu)
|
|
|
NM_001267550.2(TTN):c.79825T>C (p.Ser26609Pro)
|
|
|
NM_001267550.2(TTN):c.7996A>G (p.Arg2666Gly)
|
|
|
NM_001267550.2(TTN):c.80032G>C (p.Val26678Leu)
|
|
|
NM_001267550.2(TTN):c.80041C>T (p.Leu26681Phe)
|
|
|
NM_001267550.2(TTN):c.80156T>C (p.Val26719Ala)
|
|
|
NM_001267550.2(TTN):c.80186C>T (p.Ala26729Val)
|
|
|
NM_001267550.2(TTN):c.80254A>G (p.Ile26752Val)
|
|
|
NM_001267550.2(TTN):c.80457G>A (p.Met26819Ile)
|
|
|
NM_001267550.2(TTN):c.80468G>C (p.Gly26823Ala)
|
|
|
NM_001267550.2(TTN):c.80663C>T (p.Thr26888Ile)
|
|
|
NM_001267550.2(TTN):c.80692_80697del (p.Lys26898_Ile26899del)
|
rs1385301438
|
|
NM_001267550.2(TTN):c.80694A>C (p.Lys26898Asn)
|
rs372650410
|
|
NM_001267550.2(TTN):c.80755C>A (p.Pro26919Thr)
|
|
|
NM_001267550.2(TTN):c.80785G>A (p.Glu26929Lys)
|
|
|
NM_001267550.2(TTN):c.80881_80882delinsAA (p.Ala26961Lys)
|
rs1575668982
|
|
NM_001267550.2(TTN):c.80917C>G (p.Pro26973Ala)
|
|
|
NM_001267550.2(TTN):c.80920G>A (p.Gly26974Arg)
|
|
|
NM_001267550.2(TTN):c.80969T>C (p.Val26990Ala)
|
|
|
NM_001267550.2(TTN):c.81036G>T (p.Lys27012Asn)
|
rs550999055
|
|
NM_001267550.2(TTN):c.81089CAA[1] (p.Thr27031del)
|
rs1163103954
|
|
NM_001267550.2(TTN):c.81414_81425del (p.Asp27138_Leu27141del)
|
|
|
NM_001267550.2(TTN):c.81431A>G (p.Glu27144Gly)
|
rs794729512
|
|
NM_001267550.2(TTN):c.81719G>C (p.Arg27240Thr)
|
|
|
NM_001267550.2(TTN):c.81852_81857dup (p.Ile27285_Val27286dup)
|
rs773439628
|
|
NM_001267550.2(TTN):c.81881T>C (p.Val27294Ala)
|
|
|
NM_001267550.2(TTN):c.81898C>T (p.Arg27300Cys)
|
|
|
NM_001267550.2(TTN):c.8204T>C (p.Val2735Ala)
|
|
|
NM_001267550.2(TTN):c.82075T>C (p.Ser27359Pro)
|
|
|
NM_001267550.2(TTN):c.82171T>C (p.Trp27391Arg)
|
rs778983249
|
|
NM_001267550.2(TTN):c.82183T>G (p.Leu27395Val)
|
|
|
NM_001267550.2(TTN):c.8223_8224delinsTC (p.Lys2742Gln)
|
rs886038896
|
|
NM_001267550.2(TTN):c.82319A>G (p.Tyr27440Cys)
|
|
|
NM_001267550.2(TTN):c.82333A>C (p.Met27445Leu)
|
|
|
NM_001267550.2(TTN):c.82404G>T (p.Lys27468Asn)
|
|
|
NM_001267550.2(TTN):c.8246C>G (p.Ser2749Cys)
|
|
|
NM_001267550.2(TTN):c.8249A>G (p.Asn2750Ser)
|
|
|
NM_001267550.2(TTN):c.8252A>G (p.Glu2751Gly)
|
|
|
NM_001267550.2(TTN):c.82546T>A (p.Trp27516Arg)
|
|
|
NM_001267550.2(TTN):c.82655T>G (p.Val27552Gly)
|
|
|
NM_001267550.2(TTN):c.82727A>G (p.Asn27576Ser)
|
rs773621324
|
|
NM_001267550.2(TTN):c.82804G>A (p.Val27602Ile)
|
rs886038821
|
|
NM_001267550.2(TTN):c.82810G>C (p.Gly27604Arg)
|
rs199929362
|
|
NM_001267550.2(TTN):c.82852A>T (p.Thr27618Ser)
|
|
|
NM_001267550.2(TTN):c.82972G>A (p.Ala27658Thr)
|
|
|
NM_001267550.2(TTN):c.83101G>A (p.Gly27701Ser)
|
|
|
NM_001267550.2(TTN):c.83173A>C (p.Thr27725Pro)
|
|
|
NM_001267550.2(TTN):c.83194G>A (p.Val27732Met)
|
|
|
NM_001267550.2(TTN):c.83275G>A (p.Val27759Ile)
|
|
|
NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile)
|
rs371788070
|
|
NM_001267550.2(TTN):c.8330A>G (p.Tyr2777Cys)
|
|
|
NM_001267550.2(TTN):c.83434G>T (p.Ala27812Ser)
|
rs727504186
|
|
NM_001267550.2(TTN):c.83608G>A (p.Val27870Ile)
|
rs772190104
|
|
NM_001267550.2(TTN):c.83622T>G (p.Asp27874Glu)
|
|
|
NM_001267550.2(TTN):c.8380+3A>G
|
|
|
NM_001267550.2(TTN):c.83953C>T (p.Pro27985Ser)
|
|
|
NM_001267550.2(TTN):c.83999G>T (p.Gly28000Val)
|
|
|
NM_001267550.2(TTN):c.8399A>G (p.Lys2800Arg)
|
|
|
NM_001267550.2(TTN):c.84053C>A (p.Thr28018Lys)
|
|
|
NM_001267550.2(TTN):c.84130A>C (p.Ile28044Leu)
|
|
|
NM_001267550.2(TTN):c.84130A>G (p.Ile28044Val)
|
|
|
NM_001267550.2(TTN):c.84160G>C (p.Asp28054His)
|
|
|
NM_001267550.2(TTN):c.84181C>A (p.Pro28061Thr)
|
|
|
NM_001267550.2(TTN):c.84181C>T (p.Pro28061Ser)
|
rs373806358
|
|
NM_001267550.2(TTN):c.84263G>C (p.Ser28088Thr)
|
rs200450022
|
|
NM_001267550.2(TTN):c.84302C>T (p.Thr28101Ile)
|
|
|
NM_001267550.2(TTN):c.84338C>T (p.Ser28113Phe)
|
rs753201539
|
|
NM_001267550.2(TTN):c.84428C>T (p.Ser28143Phe)
|
|
|
NM_001267550.2(TTN):c.84434C>T (p.Ala28145Val)
|
|
|
NM_001267550.2(TTN):c.84593G>C (p.Ser28198Thr)
|
rs886039057
|
|
NM_001267550.2(TTN):c.84856G>C (p.Gly28286Arg)
|
|
|
NM_001267550.2(TTN):c.84920T>C (p.Ile28307Thr)
|
|
|
NM_001267550.2(TTN):c.85160C>T (p.Pro28387Leu)
|
|
|
NM_001267550.2(TTN):c.85258T>C (p.Cys28420Arg)
|
|
|
NM_001267550.2(TTN):c.85350G>C (p.Lys28450Asn)
|
|
|
NM_001267550.2(TTN):c.85432G>A (p.Asp28478Asn)
|
|
|
NM_001267550.2(TTN):c.85471C>T (p.Arg28491Cys)
|
|
|
NM_001267550.2(TTN):c.85535T>C (p.Val28512Ala)
|
|
|
NM_001267550.2(TTN):c.85796G>C (p.Arg28599Pro)
|
|
|
NM_001267550.2(TTN):c.8581G>T (p.Ala2861Ser)
|
|
|
NM_001267550.2(TTN):c.85837A>T (p.Thr28613Ser)
|
|
|
NM_001267550.2(TTN):c.85847G>A (p.Arg28616Gln)
|
|
|
NM_001267550.2(TTN):c.85871G>A (p.Arg28624His)
|
rs538641703
|
|
NM_001267550.2(TTN):c.85876T>C (p.Tyr28626His)
|
rs1477861188
|
|
NM_001267550.2(TTN):c.85922C>G (p.Pro28641Arg)
|
|
|
NM_001267550.2(TTN):c.85972C>T (p.Pro28658Ser)
|
|
|
NM_001267550.2(TTN):c.86003T>A (p.Ile28668Lys)
|
rs374022393
|
|
NM_001267550.2(TTN):c.86336G>C (p.Arg28779Pro)
|
|
|
NM_001267550.2(TTN):c.86402T>C (p.Val28801Ala)
|
|
|
NM_001267550.2(TTN):c.86729AAG[1] (p.Glu28911del)
|
rs727504797
|
|
NM_001267550.2(TTN):c.86809G>T (p.Val28937Leu)
|
|
|
NM_001267550.2(TTN):c.86818A>G (p.Thr28940Ala)
|
|
|
NM_001267550.2(TTN):c.86891T>C (p.Leu28964Pro)
|
|
|
NM_001267550.2(TTN):c.86927A>G (p.His28976Arg)
|
|
|
NM_001267550.2(TTN):c.8704G>C (p.Glu2902Gln)
|
|
|
NM_001267550.2(TTN):c.87140A>G (p.Lys29047Arg)
|
|
|
NM_001267550.2(TTN):c.87247G>A (p.Val29083Ile)
|
|
|
NM_001267550.2(TTN):c.87367A>G (p.Ser29123Gly)
|
|
|
NM_001267550.2(TTN):c.87376A>G (p.Thr29126Ala)
|
|
|
NM_001267550.2(TTN):c.87394_87396del (p.Ile29132del)
|
|
|
NM_001267550.2(TTN):c.87410G>A (p.Arg29137Lys)
|
|
|
NM_001267550.2(TTN):c.87616GAA[1] (p.Glu29207del)
|
rs753636173
|
|
NM_001267550.2(TTN):c.87706+3A>C
|
|
|
NM_001267550.2(TTN):c.87707-3T>C
|
|
|
NM_001267550.2(TTN):c.8771G>C (p.Ser2924Thr)
|
|
|
NM_001267550.2(TTN):c.87730C>T (p.Pro29244Ser)
|
rs779810701
|
|
NM_001267550.2(TTN):c.87733T>G (p.Trp29245Gly)
|
|
|
NM_001267550.2(TTN):c.87785T>G (p.Val29262Gly)
|
|
|
NM_001267550.2(TTN):c.877G>A (p.Val293Ile)
|
|
|
NM_001267550.2(TTN):c.8786T>G (p.Ile2929Arg)
|
rs757111808
|
|
NM_001267550.2(TTN):c.88009+4C>T
|
|
|
NM_001267550.2(TTN):c.88015C>G (p.Pro29339Ala)
|
|
|
NM_001267550.2(TTN):c.88037A>T (p.Asp29346Val)
|
rs374741129
|
|
NM_001267550.2(TTN):c.88084G>A (p.Asp29362Asn)
|
|
|
NM_001267550.2(TTN):c.88112T>A (p.Ile29371Asn)
|
|
|
NM_001267550.2(TTN):c.88112T>C (p.Ile29371Thr)
|
rs767890385
|
|
NM_001267550.2(TTN):c.88253C>A (p.Ser29418Tyr)
|
|
|
NM_001267550.2(TTN):c.88334A>C (p.Glu29445Ala)
|
rs1575553884
|
|
NM_001267550.2(TTN):c.8843C>T (p.Ser2948Leu)
|
rs397517763
|
|
NM_001267550.2(TTN):c.88486G>A (p.Ala29496Thr)
|
|
|
NM_001267550.2(TTN):c.88646A>G (p.Glu29549Gly)
|
|
|
NM_001267550.2(TTN):c.88646AGA[1] (p.Lys29550del)
|
|
|
NM_001267550.2(TTN):c.88679ATG[1] (p.Asp29561del)
|
rs1553546485
|
|
NM_001267550.2(TTN):c.88811A>G (p.Tyr29604Cys)
|
|
|
NM_001267550.2(TTN):c.88831G>A (p.Val29611Met)
|
rs79299277
|
|
NM_001267550.2(TTN):c.88852G>A (p.Glu29618Lys)
|
rs879222602
|
|
NM_001267550.2(TTN):c.88877T>C (p.Val29626Ala)
|
rs766178585
|
|
NM_001267550.2(TTN):c.88883A>G (p.Lys29628Arg)
|
|
|
NM_001267550.2(TTN):c.88982G>A (p.Gly29661Asp)
|
|
|
NM_001267550.2(TTN):c.89024AGA[1] (p.Lys29676del)
|
rs771616392
|
|
NM_001267550.2(TTN):c.89030G>A (p.Ser29677Asn)
|
|
|
NM_001267550.2(TTN):c.89062A>G (p.Ile29688Val)
|
|
|
NM_001267550.2(TTN):c.89098_89100del (p.Glu29700del)
|
rs765495361
|
|
NM_001267550.2(TTN):c.89131G>A (p.Val29711Ile)
|
|
|
NM_001267550.2(TTN):c.89215_89217del (p.Ala29739del)
|
|
|
NM_001267550.2(TTN):c.8950G>T (p.Asp2984Tyr)
|
rs2090998347
|
|
NM_001267550.2(TTN):c.89575G>C (p.Val29859Leu)
|
|
|
NM_001267550.2(TTN):c.89708C>T (p.Thr29903Ile)
|
|
|
NM_001267550.2(TTN):c.89900A>G (p.Asn29967Ser)
|
|
|
NM_001267550.2(TTN):c.90106G>T (p.Asp30036Tyr)
|
|
|
NM_001267550.2(TTN):c.90173_90196dup (p.Tyr30065_Val30066insGlyGlySerValIleThrGluTyr)
|
|
|
NM_001267550.2(TTN):c.90184A>T (p.Ile30062Phe)
|
|
|
NM_001267550.2(TTN):c.90410C>T (p.Pro30137Leu)
|
|
|
NM_001267550.2(TTN):c.90451C>T (p.Leu30151Phe)
|
rs750520740
|
|
NM_001267550.2(TTN):c.90535C>T (p.Arg30179Cys)
|
|
|
NM_001267550.2(TTN):c.90610G>A (p.Val30204Ile)
|
|
|
NM_001267550.2(TTN):c.90656T>G (p.Val30219Gly)
|
|
|
NM_001267550.2(TTN):c.90685A>G (p.Lys30229Glu)
|
|
|
NM_001267550.2(TTN):c.90698G>A (p.Arg30233Gln)
|
|
|
NM_001267550.2(TTN):c.9088G>A (p.Val3030Ile)
|
|
|
NM_001267550.2(TTN):c.90895G>T (p.Val30299Leu)
|
|
|
NM_001267550.2(TTN):c.90934G>T (p.Val30312Phe)
|
|
|
NM_001267550.2(TTN):c.90940A>G (p.Ser30314Gly)
|
|
|
NM_001267550.2(TTN):c.91271-5T>C
|
|
|
NM_001267550.2(TTN):c.91319C>T (p.Thr30440Ile)
|
|
|
NM_001267550.2(TTN):c.91416C>T (p.Asn30472=)
|
|
|
NM_001267550.2(TTN):c.91466G>T (p.Gly30489Val)
|
|
|
NM_001267550.2(TTN):c.91603G>A (p.Gly30535Ser)
|
|
|
NM_001267550.2(TTN):c.91610TTA[1] (p.Ile30538del)
|
rs754953607
|
|
NM_001267550.2(TTN):c.9172A>G (p.Ile3058Val)
|
|
|
NM_001267550.2(TTN):c.91760G>A (p.Arg30587Lys)
|
|
|
NM_001267550.2(TTN):c.91763A>G (p.Asp30588Gly)
|
|
|
NM_001267550.2(TTN):c.91813T>C (p.Ser30605Pro)
|
rs984360776
|
|
NM_001267550.2(TTN):c.91870G>A (p.Val30624Ile)
|
|
|
NM_001267550.2(TTN):c.91898C>T (p.Thr30633Ile)
|
rs780636599
|
|
NM_001267550.2(TTN):c.91934T>A (p.Leu30645His)
|
rs886038985
|
|
NM_001267550.2(TTN):c.91942G>A (p.Gly30648Ser)
|
|
|
NM_001267550.2(TTN):c.91979G>A (p.Arg30660Gln)
|
|
|
NM_001267550.2(TTN):c.92027C>G (p.Ala30676Gly)
|
|
|
NM_001267550.2(TTN):c.92059G>A (p.Gly30687Ser)
|
|
|
NM_001267550.2(TTN):c.92173A>G (p.Ile30725Val)
|
|
|
NM_001267550.2(TTN):c.92351G>A (p.Gly30784Asp)
|
|
|
NM_001267550.2(TTN):c.92444G>A (p.Cys30815Tyr)
|
|
|
NM_001267550.2(TTN):c.92611G>A (p.Val30871Met)
|
|
|
NM_001267550.2(TTN):c.92629G>A (p.Val30877Met)
|
|
|
NM_001267550.2(TTN):c.92714G>T (p.Gly30905Val)
|
|
|
NM_001267550.2(TTN):c.92799G>C (p.Gln30933His)
|
rs1553532340
|
|
NM_001267550.2(TTN):c.9288A>T (p.Glu3096Asp)
|
|
|
NM_001267550.2(TTN):c.92974G>C (p.Gly30992Arg)
|
|
|
NM_001267550.2(TTN):c.93130G>T (p.Gly31044Cys)
|
rs750213547
|
|
NM_001267550.2(TTN):c.93197T>C (p.Ile31066Thr)
|
|
|
NM_001267550.2(TTN):c.9319_9321del (p.Lys3107del)
|
|
|
NM_001267550.2(TTN):c.9324G>T (p.Glu3108Asp)
|
|
|
NM_001267550.2(TTN):c.93485A>C (p.Glu31162Ala)
|
rs1553529185
|
|
NM_001267550.2(TTN):c.93685G>A (p.Ala31229Thr)
|
|
|
NM_001267550.2(TTN):c.93734C>T (p.Pro31245Leu)
|
|
|
NM_001267550.2(TTN):c.93794CAA[2] (p.Thr31267del)
|
|
|
NM_001267550.2(TTN):c.93835A>G (p.Met31279Val)
|
|
|
NM_001267550.2(TTN):c.93842G>A (p.Gly31281Asp)
|
|
|
NM_001267550.2(TTN):c.93881_93886del (p.Ala31294_Gly31295del)
|
rs772807300
|
|
NM_001267550.2(TTN):c.93952G>T (p.Val31318Phe)
|
|
|
NM_001267550.2(TTN):c.94052C>T (p.Ser31351Leu)
|
rs794729536
|
|
NM_001267550.2(TTN):c.94061C>T (p.Thr31354Ile)
|
|
|
NM_001267550.2(TTN):c.94180_94181delinsTCTAGCAG (p.Pro31394delinsSerSerSer)
|
|
|
NM_001267550.2(TTN):c.94231G>A (p.Ala31411Thr)
|
|
|
NM_001267550.2(TTN):c.94333G>A (p.Val31445Ile)
|
|
|
NM_001267550.2(TTN):c.94436A>G (p.Tyr31479Cys)
|
rs879013044
|
|
NM_001267550.2(TTN):c.94549G>A (p.Asp31517Asn)
|
|
|
NM_001267550.2(TTN):c.94571C>T (p.Ser31524Leu)
|
|
|
NM_001267550.2(TTN):c.94582T>C (p.Ser31528Pro)
|
|
|
NM_001267550.2(TTN):c.94589C>T (p.Pro31530Leu)
|
|
|
NM_001267550.2(TTN):c.94619G>A (p.Gly31540Asp)
|
|
|
NM_001267550.2(TTN):c.94655_94657del (p.Gly31552del)
|
rs886038807
|
|
NM_001267550.2(TTN):c.9472-3C>T
|
rs1553988133
|
|
NM_001267550.2(TTN):c.94747C>T (p.Arg31583Cys)
|
|
|
NM_001267550.2(TTN):c.94843G>A (p.Glu31615Lys)
|
|
|
NM_001267550.2(TTN):c.94885G>A (p.Ala31629Thr)
|
|
|
NM_001267550.2(TTN):c.95042G>A (p.Ser31681Asn)
|
|
|
NM_001267550.2(TTN):c.95232C>G (p.Ile31744Met)
|
|
|
NM_001267550.2(TTN):c.95335A>C (p.Ile31779Leu)
|
rs886039071
|
|
NM_001267550.2(TTN):c.9533A>T (p.His3178Leu)
|
rs1334781459
|
|
NM_001267550.2(TTN):c.95384A>T (p.Glu31795Val)
|
|
|
NM_001267550.2(TTN):c.95417-4A>T
|
|
|
NM_001267550.2(TTN):c.9548G>A (p.Gly3183Asp)
|
|
|
NM_001267550.2(TTN):c.95501A>C (p.Asp31834Ala)
|
|
|
NM_001267550.2(TTN):c.95549A>G (p.Lys31850Arg)
|
|
|
NM_001267550.2(TTN):c.95573A>G (p.Asn31858Ser)
|
|
|
NM_001267550.2(TTN):c.95623G>A (p.Glu31875Lys)
|
|
|
NM_001267550.2(TTN):c.95651C>T (p.Thr31884Ile)
|
|
|
NM_001267550.2(TTN):c.95654C>T (p.Ala31885Val)
|
|
|
NM_001267550.2(TTN):c.95851_95853del (p.Lys31951del)
|
rs752016475
|
|
NM_001267550.2(TTN):c.95875G>C (p.Val31959Leu)
|
|
|
NM_001267550.2(TTN):c.95876T>A (p.Val31959Glu)
|
|
|
NM_001267550.2(TTN):c.95968G>A (p.Val31990Met)
|
rs727503541
|
|
NM_001267550.2(TTN):c.95988C>T (p.Tyr31996=)
|
|
|
NM_001267550.2(TTN):c.95993A>C (p.Glu31998Ala)
|
|
|
NM_001267550.2(TTN):c.96021A>C (p.Glu32007Asp)
|
|
|
NM_001267550.2(TTN):c.96085G>A (p.Gly32029Arg)
|
|
|
NM_001267550.2(TTN):c.96089C>A (p.Ala32030Asp)
|
|
|
NM_001267550.2(TTN):c.96212T>G (p.Ile32071Arg)
|
rs755545981
|
|
NM_001267550.2(TTN):c.96229C>A (p.Arg32077=)
|
rs751316145
|
|
NM_001267550.2(TTN):c.96310+2T>G
|
rs794729303
|
|
NM_001267550.2(TTN):c.96392T>C (p.Ile32131Thr)
|
rs978818932
|
|
NM_001267550.2(TTN):c.96414C>A (p.Asn32138Lys)
|
|
|
NM_001267550.2(TTN):c.96416A>G (p.Asn32139Ser)
|
|
|
NM_001267550.2(TTN):c.96432G>T (p.Lys32144Asn)
|
|
|
NM_001267550.2(TTN):c.96586G>A (p.Ala32196Thr)
|
|
|
NM_001267550.2(TTN):c.96599C>T (p.Ser32200Leu)
|
|
|
NM_001267550.2(TTN):c.96605T>C (p.Val32202Ala)
|
|
|
NM_001267550.2(TTN):c.96807A>T (p.Glu32269Asp)
|
rs876658095
|
|
NM_001267550.2(TTN):c.96850G>C (p.Gly32284Arg)
|
|
|
NM_001267550.2(TTN):c.96904+1G>A
|
rs1553517092
|
|
NM_001267550.2(TTN):c.96970G>A (p.Val32324Ile)
|
rs1454125243
|
|
NM_001267550.2(TTN):c.9703+4T>C
|
|
|
NM_001267550.2(TTN):c.97085C>T (p.Ala32362Val)
|
|
|
NM_001267550.2(TTN):c.97100G>A (p.Arg32367His)
|
|
|
NM_001267550.2(TTN):c.97193-3T>C
|
|
|
NM_001267550.2(TTN):c.97283G>A (p.Gly32428Asp)
|
rs1060500592
|
|
NM_001267550.2(TTN):c.97315C>A (p.Gln32439Lys)
|
|
|
NM_001267550.2(TTN):c.97423G>A (p.Ala32475Thr)
|
|
|
NM_001267550.2(TTN):c.97492+1G>A
|
rs727505319
|
|
NM_001267550.2(TTN):c.97492+2T>C
|
|
|
NM_001267550.2(TTN):c.97578C>G (p.Asp32526Glu)
|
rs142907833
|
|
NM_001267550.2(TTN):c.97580G>A (p.Gly32527Asp)
|
|
|
NM_001267550.2(TTN):c.97583G>C (p.Gly32528Ala)
|
|
|
NM_001267550.2(TTN):c.97700G>A (p.Gly32567Asp)
|
|
|
NM_001267550.2(TTN):c.97760G>C (p.Arg32587Pro)
|
rs55704830
|
|
NM_001267550.2(TTN):c.97897A>G (p.Thr32633Ala)
|
|
|
NM_001267550.2(TTN):c.97900G>A (p.Gly32634Ser)
|
rs1693772565
|
|
NM_001267550.2(TTN):c.97901G>A (p.Gly32634Asp)
|
|
|
NM_001267550.2(TTN):c.97939T>C (p.Trp32647Arg)
|
|
|
NM_001267550.2(TTN):c.97946A>C (p.Lys32649Thr)
|
|
|
NM_001267550.2(TTN):c.98054A>G (p.Glu32685Gly)
|
|
|
NM_001267550.2(TTN):c.98073A>T (p.Gly32691=)
|
|
|
NM_001267550.2(TTN):c.98091A>C (p.Glu32697Asp)
|
|
|
NM_001267550.2(TTN):c.9812C>T (p.Ser3271Phe)
|
rs867536098
|
|
NM_001267550.2(TTN):c.98228A>G (p.Gln32743Arg)
|
|
|
NM_001267550.2(TTN):c.98296G>T (p.Asp32766Tyr)
|
rs727504449
|
|
NM_001267550.2(TTN):c.98330T>G (p.Leu32777Arg)
|
rs1553510213
|
|
NM_001267550.2(TTN):c.98713G>A (p.Glu32905Lys)
|
rs763344306
|
|
NM_001267550.2(TTN):c.98766A>C (p.Lys32922Asn)
|
|
|
NM_001267550.2(TTN):c.98927ATG[1] (p.Asp32977del)
|
rs748211870
|
|
NM_001267550.2(TTN):c.98966C>G (p.Pro32989Arg)
|
|
|
NM_001267550.2(TTN):c.99016G>C (p.Glu33006Gln)
|
rs201931674
|
|
NM_001267550.2(TTN):c.99058G>A (p.Glu33020Lys)
|
|
|
NM_001267550.2(TTN):c.99224C>T (p.Ala33075Val)
|
|
|
NM_001267550.2(TTN):c.99267G>A (p.Met33089Ile)
|
|
|
NM_001267550.2(TTN):c.99289+1G>C
|
rs2154139165
|
|
NM_001267550.2(TTN):c.99290C>A (p.Ser33097Tyr)
|
|
|
NM_001267550.2(TTN):c.99308T>A (p.Ile33103Lys)
|
|
|
NM_001267550.2(TTN):c.99314A>T (p.Lys33105Ile)
|
|
|
NM_001267550.2(TTN):c.99421C>T (p.Leu33141Phe)
|
rs886039134
|
|
NM_001267550.2(TTN):c.99422T>C (p.Leu33141Pro)
|
rs1553505321
|
|
NM_001267550.2(TTN):c.99569T>G (p.Leu33190Arg)
|
rs1553504950
|
|
NM_001267550.2(TTN):c.99845T>C (p.Ile33282Thr)
|
|
|
NM_001267550.2(TTN):c.99865+2T>C
|
|
|
NM_001267550.2(TTN):c.99931A>G (p.Ser33311Gly)
|
|
|
NM_001267550.2(TTN):c.99966G>T (p.Trp33322Cys)
|
rs775769503
|
|
NM_001276345.2(TNNT2):c.-1C>A
|
rs776936911
|
|
NM_001276345.2(TNNT2):c.-1C>T
|
rs776936911
|
|
NM_001276345.2(TNNT2):c.104A>T (p.Glu35Val)
|
|
|
NM_001276345.2(TNNT2):c.121G>A (p.Asp41Asn)
|
rs748078123
|
|
NM_001276345.2(TNNT2):c.131C>T (p.Ala44Val)
|
|
|
NM_001276345.2(TNNT2):c.142A>G (p.Thr48Ala)
|
|
|
NM_001276345.2(TNNT2):c.155G>A (p.Arg52Lys)
|
|
|
NM_001276345.2(TNNT2):c.157G>A (p.Ala53Thr)
|
|
|
NM_001276345.2(TNNT2):c.163+2T>C
|
|
|
NM_001276345.2(TNNT2):c.209T>A (p.Met70Lys)
|
|
|
NM_001276345.2(TNNT2):c.238T>C (p.Phe80Leu)
|
rs886039053
|
|
NM_001276345.2(TNNT2):c.248A>C (p.Asn83Thr)
|
|
|
NM_001276345.2(TNNT2):c.262A>G (p.Lys88Glu)
|
rs1659525886
|
|
NM_001276345.2(TNNT2):c.268C>T (p.Pro90Ser)
|
rs397516451
|
|
NM_001276345.2(TNNT2):c.279G>C (p.Glu93Asp)
|
rs727503514
|
|
NM_001276345.2(TNNT2):c.281G>C (p.Arg94Thr)
|
rs397516452
|
|
NM_001276345.2(TNNT2):c.294+5G>A
|
rs533357783
|
|
NM_001276345.2(TNNT2):c.298A>G (p.Ile100Val)
|
|
|
NM_001276345.2(TNNT2):c.301C>T (p.His101Tyr)
|
rs2102262282
|
|
NM_001276345.2(TNNT2):c.309G>T (p.Lys103Asn)
|
rs778426227
|
|
NM_001276345.2(TNNT2):c.332A>G (p.Glu111Gly)
|
|
|
NM_001276345.2(TNNT2):c.341C>A (p.Ala114Glu)
|
rs727504245
|
|
NM_001276345.2(TNNT2):c.347_348delinsCT (p.Ile116Thr)
|
rs1553282523
|
|
NM_001276345.2(TNNT2):c.375del (p.Glu126fs)
|
rs560019679
|
|
NM_001276345.2(TNNT2):c.388C>G (p.Leu130Val)
|
|
|
NM_001276345.2(TNNT2):c.3G>A (p.Met1Ile)
|
rs1289914935
|
|
NM_001276345.2(TNNT2):c.408G>C (p.Arg136Ser)
|
rs2102260528
|
|
NM_001276345.2(TNNT2):c.412G>C (p.Glu138Gln)
|
|
|
NM_001276345.2(TNNT2):c.413A>G (p.Glu138Gly)
|
|
|
NM_001276345.2(TNNT2):c.427G>C (p.Glu143Gln)
|
rs1316344347
|
|
NM_001276345.2(TNNT2):c.430C>T (p.Arg144Trp)
|
rs45525839
|
|
NM_001276345.2(TNNT2):c.445C>T (p.Arg149Cys)
|
rs397516465
|
|
NM_001276345.2(TNNT2):c.451del (p.Arg151fs)
|
rs730881115
|
|
NM_001276345.2(TNNT2):c.463G>A (p.Glu155Lys)
|
rs984218824
|
|
NM_001276345.2(TNNT2):c.470A>G (p.Glu157Gly)
|
|
|
NM_001276345.2(TNNT2):c.481C>T (p.Arg161Cys)
|
rs45608937
|
|
NM_001276345.2(TNNT2):c.482G>T (p.Arg161Leu)
|
|
|
NM_001276345.2(TNNT2):c.499G>T (p.Ala167Ser)
|
rs1553281319
|
|
NM_001276345.2(TNNT2):c.517G>A (p.Glu173Lys)
|
rs1558225569
|
|
NM_001276345.2(TNNT2):c.52+4A>G
|
|
|
NM_001276345.2(TNNT2):c.554A>G (p.Lys185Arg)
|
|
|
NM_001276345.2(TNNT2):c.580T>C (p.Phe194Leu)
|
|
|
NM_001276345.2(TNNT2):c.583G>C (p.Gly195Arg)
|
|
|
NM_001276345.2(TNNT2):c.609+1G>C
|
|
|
NM_001276345.2(TNNT2):c.611C>T (p.Thr204Ile)
|
rs2102235172
|
|
NM_001276345.2(TNNT2):c.616C>T (p.Arg206Trp)
|
rs730881106
|
|
NM_001276345.2(TNNT2):c.620A>G (p.Lys207Arg)
|
|
|
NM_001276345.2(TNNT2):c.632G>A (p.Arg211Lys)
|
|
|
NM_001276345.2(TNNT2):c.643C>T (p.Arg215Trp)
|
rs45586240
|
|
NM_001276345.2(TNNT2):c.719+3G>C
|
|
|
NM_001276345.2(TNNT2):c.719G>A (p.Arg240Lys)
|
rs2102233852
|
|
NM_001276345.2(TNNT2):c.764C>T (p.Ala255Val)
|
rs369181536
|
|
NM_001276345.2(TNNT2):c.772T>C (p.Phe258Leu)
|
rs730881110
|
|
NM_001276345.2(TNNT2):c.806A>G (p.Tyr269Cys)
|
rs1553280112
|
|
NM_001276345.2(TNNT2):c.838G>A (p.Asp280Asn)
|
rs121964861
|
|
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.852-2A>C
|
rs111692981
|
|
NM_001276345.2(TNNT2):c.886C>A (p.Arg296Ser)
|
rs367785431
|
|
NM_001276345.2(TNNT2):c.895T>C (p.Ter299Gln)
|
|
|
NM_001289808.2(CRYAB):c.-2C>T
|
rs782389011
|
|
NM_001289808.2(CRYAB):c.115C>T (p.Pro39Ser)
|
rs145768025
|
|
NM_001289808.2(CRYAB):c.125C>G (p.Thr42Ser)
|
|
|
NM_001289808.2(CRYAB):c.130C>A (p.Leu44Met)
|
|
|
NM_001289808.2(CRYAB):c.187A>G (p.Thr63Ala)
|
rs375886627
|
|
NM_001289808.2(CRYAB):c.295G>T (p.Glu99Ter)
|
rs1965414571
|
|
NM_001289808.2(CRYAB):c.324+5G>A
|
|
|
NM_001289808.2(CRYAB):c.345C>T (p.Ser115=)
|
|
|
NM_001289808.2(CRYAB):c.4G>A (p.Asp2Asn)
|
|
|
NM_001289808.2(CRYAB):c.509C>T (p.Thr170Ile)
|
|
|
NM_001289808.2(CRYAB):c.68T>C (p.Leu23Pro)
|
rs1555165587
|
|
NM_001289808.2(CRYAB):c.85G>A (p.Gly29Arg)
|
rs148500053
|
|
NM_001308093.3(GATA4):c.1001C>T (p.Ala334Val)
|
|
|
NM_001308093.3(GATA4):c.1091C>G (p.Pro364Arg)
|
|
|
NM_001308093.3(GATA4):c.1145C>G (p.Ser382Cys)
|
|
|
NM_001308093.3(GATA4):c.1155C>G (p.Phe385Leu)
|
rs957671450
|
|
NM_001308093.3(GATA4):c.1177C>T (p.His393Tyr)
|
|
|
NM_001308093.3(GATA4):c.1178A>G (p.His393Arg)
|
rs766572598
|
|
NM_001308093.3(GATA4):c.1181G>T (p.Gly394Val)
|
|
|
NM_001308093.3(GATA4):c.1202T>C (p.Leu401Pro)
|
|
|
NM_001308093.3(GATA4):c.1210C>G (p.Leu404Val)
|
|
|
NM_001308093.3(GATA4):c.1232A>G (p.Tyr411Cys)
|
|
|
NM_001308093.3(GATA4):c.1232A>T (p.Tyr411Phe)
|
rs909187176
|
|
NM_001308093.3(GATA4):c.127C>T (p.Arg43Trp)
|
rs387906770
|
|
NM_001308093.3(GATA4):c.1301C>G (p.Ala434Gly)
|
|
|
NM_001308093.3(GATA4):c.1311C>A (p.His437Gln)
|
|
|
NM_001308093.3(GATA4):c.1318A>T (p.Ile440Leu)
|
rs772619099
|
|
NM_001308093.3(GATA4):c.1322T>G (p.Ile441Ser)
|
|
|
NM_001308093.3(GATA4):c.143T>C (p.Val48Ala)
|
rs1272999942
|
|
NM_001308093.3(GATA4):c.148G>C (p.Gly50Arg)
|
|
|
NM_001308093.3(GATA4):c.187T>G (p.Ser63Ala)
|
|
|
NM_001308093.3(GATA4):c.236G>T (p.Gly79Val)
|
|
|
NM_001308093.3(GATA4):c.253G>T (p.Gly85Cys)
|
|
|
NM_001308093.3(GATA4):c.292G>A (p.Ala98Thr)
|
|
|
NM_001308093.3(GATA4):c.310G>A (p.Val104Met)
|
|
|
NM_001308093.3(GATA4):c.332C>T (p.Pro111Leu)
|
|
|
NM_001308093.3(GATA4):c.340A>C (p.Thr114Pro)
|
|
|
NM_001308093.3(GATA4):c.353C>T (p.Ala118Val)
|
|
|
NM_001308093.3(GATA4):c.357CGC[5] (p.Ala126dup)
|
rs1182566703
|
|
NM_001308093.3(GATA4):c.380G>T (p.Arg127Leu)
|
|
|
NM_001308093.3(GATA4):c.409G>C (p.Gly137Arg)
|
|
|
NM_001308093.3(GATA4):c.428T>G (p.Leu143Arg)
|
|
|
NM_001308093.3(GATA4):c.505G>T (p.Val169Leu)
|
|
|
NM_001308093.3(GATA4):c.512C>G (p.Ala171Gly)
|
|
|
NM_001308093.3(GATA4):c.598G>A (p.Ala200Thr)
|
|
|
NM_001308093.3(GATA4):c.602G>A (p.Arg201Gln)
|
|
|
NM_001308093.3(GATA4):c.607C>T (p.Pro203Ser)
|
|
|
NM_001308093.3(GATA4):c.612T>A (p.Asn204Lys)
|
|
|
NM_001308093.3(GATA4):c.631G>T (p.Asp211Tyr)
|
rs377673676
|
|
NM_001308093.3(GATA4):c.768C>G (p.Ile256Met)
|
|
|
NM_001308093.3(GATA4):c.76T>G (p.Phe26Val)
|
rs1554488388
|
|
NM_001308093.3(GATA4):c.790G>T (p.Ala264Ser)
|
rs201520087
|
|
NM_001308093.3(GATA4):c.830C>G (p.Thr277Ser)
|
|
|
NM_001308093.3(GATA4):c.841A>T (p.Thr281Ser)
|
rs1356876573
|
|
NM_001308093.3(GATA4):c.928G>C (p.Ala310Pro)
|
|
|
NM_001308093.3(GATA4):c.976C>A (p.Leu326Met)
|
|
|
NM_001365276.2(TNXB):c.10006G>A (p.Gly3336Arg)
|
|
|
NM_001365276.2(TNXB):c.10006G>T (p.Gly3336Trp)
|
|
|
NM_001365276.2(TNXB):c.10024G>A (p.Val3342Ile)
|
|
|
NM_001365276.2(TNXB):c.10025T>A (p.Val3342Asp)
|
|
|
NM_001365276.2(TNXB):c.10033G>A (p.Glu3345Lys)
|
|
|
NM_001365276.2(TNXB):c.10045G>A (p.Ala3349Thr)
|
rs529527925
|
|
NM_001365276.2(TNXB):c.1008C>A (p.Asp336Glu)
|
|
|
NM_001365276.2(TNXB):c.10096G>T (p.Ala3366Ser)
|
|
|
NM_001365276.2(TNXB):c.10121C>T (p.Ser3374Leu)
|
|
|
NM_001365276.2(TNXB):c.10127C>T (p.Thr3376Met)
|
|
|
NM_001365276.2(TNXB):c.1013G>A (p.Gly338Asp)
|
|
|
NM_001365276.2(TNXB):c.1013G>T (p.Gly338Val)
|
|
|
NM_001365276.2(TNXB):c.10141G>A (p.Glu3381Lys)
|
|
|
NM_001365276.2(TNXB):c.10147G>A (p.Asp3383Asn)
|
|
|
NM_001365276.2(TNXB):c.10156G>A (p.Val3386Met)
|
|
|
NM_001365276.2(TNXB):c.10164G>C (p.Gln3388His)
|
|
|
NM_001365276.2(TNXB):c.10191G>T (p.Gln3397His)
|
|
|
NM_001365276.2(TNXB):c.10193T>G (p.Val3398Gly)
|
|
|
NM_001365276.2(TNXB):c.10196T>C (p.Val3399Ala)
|
|
|
NM_001365276.2(TNXB):c.10216C>T (p.Arg3406Trp)
|
|
|
NM_001365276.2(TNXB):c.10246A>G (p.Ser3416Gly)
|
|
|
NM_001365276.2(TNXB):c.10292G>A (p.Arg3431Gln)
|
|
|
NM_001365276.2(TNXB):c.1030T>C (p.Trp344Arg)
|
|
|
NM_001365276.2(TNXB):c.10327C>G (p.Pro3443Ala)
|
|
|
NM_001365276.2(TNXB):c.10336A>C (p.Lys3446Gln)
|
rs2151887878
|
|
NM_001365276.2(TNXB):c.10338G>T (p.Lys3446Asn)
|
|
|
NM_001365276.2(TNXB):c.10358G>A (p.Gly3453Glu)
|
|
|
NM_001365276.2(TNXB):c.1035C>G (p.Asp345Glu)
|
|
|
NM_001365276.2(TNXB):c.10369G>A (p.Val3457Met)
|
|
|
NM_001365276.2(TNXB):c.10387A>G (p.Ser3463Gly)
|
|
|
NM_001365276.2(TNXB):c.10403C>A (p.Ser3468Tyr)
|
|
|
NM_001365276.2(TNXB):c.10405T>A (p.Trp3469Arg)
|
|
|
NM_001365276.2(TNXB):c.10406G>T (p.Trp3469Leu)
|
|
|
NM_001365276.2(TNXB):c.10409C>T (p.Thr3470Met)
|
|
|
NM_001365276.2(TNXB):c.10411G>T (p.Val3471Leu)
|
|
|
NM_001365276.2(TNXB):c.10460A>G (p.Asp3487Gly)
|
|
|
NM_001365276.2(TNXB):c.10480C>G (p.Pro3494Ala)
|
|
|
NM_001365276.2(TNXB):c.10489G>A (p.Ala3497Thr)
|
|
|
NM_001365276.2(TNXB):c.10510G>T (p.Val3504Leu)
|
rs759767266
|
|
NM_001365276.2(TNXB):c.10523A>G (p.Glu3508Gly)
|
|
|
NM_001365276.2(TNXB):c.10574G>A (p.Arg3525His)
|
|
|
NM_001365276.2(TNXB):c.10583C>G (p.Pro3528Arg)
|
|
|
NM_001365276.2(TNXB):c.10601T>A (p.Met3534Lys)
|
|
|
NM_001365276.2(TNXB):c.1061A>G (p.Asp354Gly)
|
|
|
NM_001365276.2(TNXB):c.1066C>T (p.Arg356Cys)
|
|
|
NM_001365276.2(TNXB):c.1109C>A (p.Thr370Lys)
|
|
|
NM_001365276.2(TNXB):c.1109C>T (p.Thr370Met)
|
|
|
NM_001365276.2(TNXB):c.1126G>A (p.Asp376Asn)
|
|
|
NM_001365276.2(TNXB):c.1127A>G (p.Asp376Gly)
|
|
|
NM_001365276.2(TNXB):c.112C>T (p.Arg38Trp)
|
|
|
NM_001365276.2(TNXB):c.1138C>T (p.Arg380Cys)
|
|
|
NM_001365276.2(TNXB):c.1145G>A (p.Arg382His)
|
|
|
NM_001365276.2(TNXB):c.1162T>G (p.Cys388Gly)
|
rs1307690516
|
|
NM_001365276.2(TNXB):c.1170C>G (p.Cys390Trp)
|
|
|
NM_001365276.2(TNXB):c.1221C>G (p.Asp407Glu)
|
|
|
NM_001365276.2(TNXB):c.1226A>C (p.Asn409Thr)
|
|
|
NM_001365276.2(TNXB):c.1248C>A (p.Asp416Glu)
|
|
|
NM_001365276.2(TNXB):c.1252C>A (p.Arg418Ser)
|
|
|
NM_001365276.2(TNXB):c.1259T>A (p.Val420Glu)
|
|
|
NM_001365276.2(TNXB):c.1259T>C (p.Val420Ala)
|
rs200226242
|
|
NM_001365276.2(TNXB):c.1263_1448del (p.Thr428_Gly489del)
|
rs2127289918
|
|
NM_001365276.2(TNXB):c.1268C>A (p.Pro423Gln)
|
|
|
NM_001365276.2(TNXB):c.127C>G (p.Pro43Ala)
|
|
|
NM_001365276.2(TNXB):c.128C>T (p.Pro43Leu)
|
|
|
NM_001365276.2(TNXB):c.1291G>A (p.Gly431Ser)
|
|
|
NM_001365276.2(TNXB):c.1300G>C (p.Ala434Pro)
|
|
|
NM_001365276.2(TNXB):c.1411_1413del (p.Arg471del)
|
|
|
NM_001365276.2(TNXB):c.1439G>C (p.Arg480Pro)
|
|
|
NM_001365276.2(TNXB):c.1446G>C (p.Met482Ile)
|
|
|
NM_001365276.2(TNXB):c.1465G>A (p.Gly489Ser)
|
|
|
NM_001365276.2(TNXB):c.1473C>G (p.Asp491Glu)
|
|
|
NM_001365276.2(TNXB):c.148G>T (p.Ala50Ser)
|
|
|
NM_001365276.2(TNXB):c.1499A>G (p.Asp500Gly)
|
|
|
NM_001365276.2(TNXB):c.1502G>C (p.Cys501Ser)
|
|
|
NM_001365276.2(TNXB):c.1507GGGCGC[3] (p.503GR[3])
|
rs767532350
|
|
NM_001365276.2(TNXB):c.1517G>C (p.Arg506Pro)
|
|
|
NM_001365276.2(TNXB):c.1544A>G (p.Asn515Ser)
|
|
|
NM_001365276.2(TNXB):c.1567T>A (p.Cys523Ser)
|
|
|
NM_001365276.2(TNXB):c.1577G>A (p.Arg526His)
|
|
|
NM_001365276.2(TNXB):c.1583G>A (p.Cys528Tyr)
|
|
|
NM_001365276.2(TNXB):c.1625T>A (p.Val542Glu)
|
|
|
NM_001365276.2(TNXB):c.1656A>C (p.Glu552Asp)
|
|
|
NM_001365276.2(TNXB):c.1678C>T (p.Pro560Ser)
|
|
|
NM_001365276.2(TNXB):c.167C>G (p.Ser56Cys)
|
|
|
NM_001365276.2(TNXB):c.1750G>T (p.Asp584Tyr)
|
|
|
NM_001365276.2(TNXB):c.1787A>G (p.Gln596Arg)
|
|
|
NM_001365276.2(TNXB):c.1795G>A (p.Val599Met)
|
|
|
NM_001365276.2(TNXB):c.1807G>C (p.Gly603Arg)
|
|
|
NM_001365276.2(TNXB):c.181G>A (p.Glu61Lys)
|
|
|
NM_001365276.2(TNXB):c.1832A>T (p.Tyr611Phe)
|
|
|
NM_001365276.2(TNXB):c.1834G>A (p.Val612Met)
|
|
|
NM_001365276.2(TNXB):c.1846T>G (p.Cys616Gly)
|
|
|
NM_001365276.2(TNXB):c.1927A>C (p.Thr643Pro)
|
|
|
NM_001365276.2(TNXB):c.1948C>G (p.Arg650Gly)
|
|
|
NM_001365276.2(TNXB):c.1976G>T (p.Arg659Leu)
|
|
|
NM_001365276.2(TNXB):c.197G>C (p.Gly66Ala)
|
|
|
NM_001365276.2(TNXB):c.2023G>A (p.Gly675Ser)
|
|
|
NM_001365276.2(TNXB):c.2054C>G (p.Ala685Gly)
|
|
|
NM_001365276.2(TNXB):c.2096G>C (p.Arg699Pro)
|
|
|
NM_001365276.2(TNXB):c.2105A>G (p.Gln702Arg)
|
|
|
NM_001365276.2(TNXB):c.2107T>C (p.Cys703Arg)
|
|
|
NM_001365276.2(TNXB):c.2189A>C (p.His730Pro)
|
|
|
NM_001365276.2(TNXB):c.2207G>A (p.Cys736Tyr)
|
|
|
NM_001365276.2(TNXB):c.2207G>T (p.Cys736Phe)
|
|
|
NM_001365276.2(TNXB):c.2296C>G (p.Arg766Gly)
|
|
|
NM_001365276.2(TNXB):c.2297G>A (p.Arg766Gln)
|
|
|
NM_001365276.2(TNXB):c.2312C>T (p.Pro771Leu)
|
|
|
NM_001365276.2(TNXB):c.2336A>G (p.Tyr779Cys)
|
|
|
NM_001365276.2(TNXB):c.2345A>G (p.Gln782Arg)
|
|
|
NM_001365276.2(TNXB):c.2357C>T (p.Thr786Met)
|
|
|
NM_001365276.2(TNXB):c.2377C>T (p.Pro793Ser)
|
|
|
NM_001365276.2(TNXB):c.2384C>T (p.Thr795Ile)
|
|
|
NM_001365276.2(TNXB):c.2414A>G (p.Tyr805Cys)
|
|
|
NM_001365276.2(TNXB):c.2441A>G (p.Gln814Arg)
|
|
|
NM_001365276.2(TNXB):c.2462G>A (p.Arg821Gln)
|
|
|
NM_001365276.2(TNXB):c.2482T>G (p.Trp828Gly)
|
|
|
NM_001365276.2(TNXB):c.2566C>A (p.Leu856Met)
|
|
|
NM_001365276.2(TNXB):c.2585G>A (p.Arg862His)
|
|
|
NM_001365276.2(TNXB):c.2590C>A (p.Gln864Lys)
|
|
|
NM_001365276.2(TNXB):c.2606G>A (p.Arg869Gln)
|
|
|
NM_001365276.2(TNXB):c.2618C>A (p.Ser873Tyr)
|
|
|
NM_001365276.2(TNXB):c.2632G>A (p.Gly878Ser)
|
|
|
NM_001365276.2(TNXB):c.2644G>A (p.Val882Met)
|
|
|
NM_001365276.2(TNXB):c.2648G>A (p.Arg883Lys)
|
|
|
NM_001365276.2(TNXB):c.2662C>G (p.Pro888Ala)
|
|
|
NM_001365276.2(TNXB):c.2704G>A (p.Val902Ile)
|
|
|
NM_001365276.2(TNXB):c.2726C>T (p.Thr909Ile)
|
|
|
NM_001365276.2(TNXB):c.2740C>T (p.Arg914Trp)
|
|
|
NM_001365276.2(TNXB):c.277C>T (p.Pro93Ser)
|
|
|
NM_001365276.2(TNXB):c.2821C>T (p.Pro941Ser)
|
|
|
NM_001365276.2(TNXB):c.2839A>T (p.Thr947Ser)
|
|
|
NM_001365276.2(TNXB):c.2840C>T (p.Thr947Met)
|
|
|
NM_001365276.2(TNXB):c.2842A>T (p.Thr948Ser)
|
|
|
NM_001365276.2(TNXB):c.2843C>T (p.Thr948Met)
|
|
|
NM_001365276.2(TNXB):c.2852C>T (p.Ala951Val)
|
|
|
NM_001365276.2(TNXB):c.2857G>T (p.Ala953Ser)
|
|
|
NM_001365276.2(TNXB):c.2863C>T (p.Leu955Phe)
|
|
|
NM_001365276.2(TNXB):c.2876G>A (p.Arg959His)
|
|
|
NM_001365276.2(TNXB):c.2882A>G (p.Gln961Arg)
|
|
|
NM_001365276.2(TNXB):c.289G>A (p.Ala97Thr)
|
|
|
NM_001365276.2(TNXB):c.2915A>G (p.Asp972Gly)
|
|
|
NM_001365276.2(TNXB):c.2966C>T (p.Ala989Val)
|
|
|
NM_001365276.2(TNXB):c.2996A>C (p.Glu999Ala)
|
|
|
NM_001365276.2(TNXB):c.29C>G (p.Ser10Cys)
|
|
|
NM_001365276.2(TNXB):c.3058C>A (p.Pro1020Thr)
|
|
|
NM_001365276.2(TNXB):c.3074C>T (p.Pro1025Leu)
|
|
|
NM_001365276.2(TNXB):c.3128T>C (p.Ile1043Thr)
|
|
|
NM_001365276.2(TNXB):c.3142A>G (p.Ile1048Val)
|
|
|
NM_001365276.2(TNXB):c.316C>G (p.Arg106Gly)
|
|
|
NM_001365276.2(TNXB):c.316C>T (p.Arg106Cys)
|
|
|
NM_001365276.2(TNXB):c.317G>T (p.Arg106Leu)
|
|
|
NM_001365276.2(TNXB):c.3190C>T (p.Arg1064Cys)
|
|
|
NM_001365276.2(TNXB):c.3206C>T (p.Thr1069Met)
|
|
|
NM_001365276.2(TNXB):c.3241C>T (p.Arg1081Cys)
|
|
|
NM_001365276.2(TNXB):c.3256G>A (p.Glu1086Lys)
|
|
|
NM_001365276.2(TNXB):c.326T>G (p.Ile109Ser)
|
|
|
NM_001365276.2(TNXB):c.3295A>G (p.Arg1099Gly)
|
|
|
NM_001365276.2(TNXB):c.3301G>A (p.Gly1101Arg)
|
|
|
NM_001365276.2(TNXB):c.3326A>G (p.Glu1109Gly)
|
|
|
NM_001365276.2(TNXB):c.3329G>T (p.Gly1110Val)
|
|
|
NM_001365276.2(TNXB):c.3341C>T (p.Ser1114Leu)
|
|
|
NM_001365276.2(TNXB):c.3346G>A (p.Val1116Ile)
|
|
|
NM_001365276.2(TNXB):c.3414G>C (p.Arg1138Ser)
|
|
|
NM_001365276.2(TNXB):c.3422C>T (p.Pro1141Leu)
|
|
|
NM_001365276.2(TNXB):c.3455G>A (p.Ser1152Asn)
|
|
|
NM_001365276.2(TNXB):c.3464G>C (p.Ser1155Thr)
|
|
|
NM_001365276.2(TNXB):c.3475C>G (p.Pro1159Ala)
|
|
|
NM_001365276.2(TNXB):c.3537G>C (p.Trp1179Cys)
|
|
|
NM_001365276.2(TNXB):c.3583G>T (p.Asp1195Tyr)
|
|
|
NM_001365276.2(TNXB):c.3595C>T (p.Arg1199Trp)
|
rs1462486516
|
|
NM_001365276.2(TNXB):c.3604G>A (p.Val1202Met)
|
|
|
NM_001365276.2(TNXB):c.3624C>T (p.Pro1208=)
|
|
|
NM_001365276.2(TNXB):c.3628C>A (p.Arg1210Ser)
|
|
|
NM_001365276.2(TNXB):c.3629G>A (p.Arg1210His)
|
|
|
NM_001365276.2(TNXB):c.3644C>T (p.Ser1215Phe)
|
|
|
NM_001365276.2(TNXB):c.3659A>T (p.Asp1220Val)
|
|
|
NM_001365276.2(TNXB):c.3662A>C (p.His1221Pro)
|
|
|
NM_001365276.2(TNXB):c.3665A>T (p.Lys1222Met)
|
|
|
NM_001365276.2(TNXB):c.3692C>A (p.Ala1231Glu)
|
|
|
NM_001365276.2(TNXB):c.3692C>T (p.Ala1231Val)
|
|
|
NM_001365276.2(TNXB):c.3704G>A (p.Arg1235Gln)
|
|
|
NM_001365276.2(TNXB):c.3724G>A (p.Asp1242Asn)
|
|
|
NM_001365276.2(TNXB):c.3730A>C (p.Thr1244Pro)
|
|
|
NM_001365276.2(TNXB):c.3756G>C (p.Glu1252Asp)
|
|
|
NM_001365276.2(TNXB):c.3758C>A (p.Pro1253His)
|
rs188789382
|
|
NM_001365276.2(TNXB):c.3758C>T (p.Pro1253Leu)
|
rs188789382
|
|
NM_001365276.2(TNXB):c.3761C>G (p.Pro1254Arg)
|
rs762130701
|
|
NM_001365276.2(TNXB):c.3763C>G (p.Arg1255Gly)
|
rs376472382
|
|
NM_001365276.2(TNXB):c.3763C>T (p.Arg1255Cys)
|
rs376472382
|
|
NM_001365276.2(TNXB):c.3770A>T (p.Glu1257Val)
|
|
|
NM_001365276.2(TNXB):c.380C>G (p.Pro127Arg)
|
|
|
NM_001365276.2(TNXB):c.3832C>T (p.Arg1278Cys)
|
|
|
NM_001365276.2(TNXB):c.3833G>A (p.Arg1278His)
|
|
|
NM_001365276.2(TNXB):c.3847G>C (p.Val1283Leu)
|
|
|
NM_001365276.2(TNXB):c.3881A>G (p.Gln1294Arg)
|
|
|
NM_001365276.2(TNXB):c.3886A>G (p.Lys1296Glu)
|
|
|
NM_001365276.2(TNXB):c.3905C>A (p.Pro1302His)
|
|
|
NM_001365276.2(TNXB):c.3916C>A (p.Pro1306Thr)
|
|
|
NM_001365276.2(TNXB):c.3919G>A (p.Val1307Ile)
|
|
|
NM_001365276.2(TNXB):c.3926G>T (p.Gly1309Val)
|
|
|
NM_001365276.2(TNXB):c.3928G>A (p.Asp1310Asn)
|
|
|
NM_001365276.2(TNXB):c.3949C>A (p.Pro1317Thr)
|
|
|
NM_001365276.2(TNXB):c.3965A>G (p.Asp1322Gly)
|
|
|
NM_001365276.2(TNXB):c.3967C>G (p.Arg1323Gly)
|
rs568613138
|
|
NM_001365276.2(TNXB):c.3967C>T (p.Arg1323Trp)
|
|
|
NM_001365276.2(TNXB):c.3972G>T (p.Lys1324Asn)
|
|
|
NM_001365276.2(TNXB):c.3981G>A (p.Met1327Ile)
|
|
|
NM_001365276.2(TNXB):c.3989A>C (p.Tyr1330Ser)
|
|
|
NM_001365276.2(TNXB):c.4009C>T (p.Arg1337Cys)
|
|
|
NM_001365276.2(TNXB):c.4010G>A (p.Arg1337His)
|
rs61735731
|
|
NM_001365276.2(TNXB):c.4016G>A (p.Gly1339Glu)
|
|
|
NM_001365276.2(TNXB):c.403+3G>A
|
|
|
NM_001365276.2(TNXB):c.4044T>G (p.Ala1348=)
|
|
|
NM_001365276.2(TNXB):c.407A>C (p.Gln136Pro)
|
|
|
NM_001365276.2(TNXB):c.40C>G (p.Leu14Val)
|
|
|
NM_001365276.2(TNXB):c.4100C>T (p.Pro1367Leu)
|
|
|
NM_001365276.2(TNXB):c.4118C>T (p.Pro1373Leu)
|
|
|
NM_001365276.2(TNXB):c.4180G>A (p.Val1394Ile)
|
|
|
NM_001365276.2(TNXB):c.4198G>A (p.Asp1400Asn)
|
|
|
NM_001365276.2(TNXB):c.419G>A (p.Arg140Gln)
|
|
|
NM_001365276.2(TNXB):c.419G>T (p.Arg140Leu)
|
|
|
NM_001365276.2(TNXB):c.4210G>T (p.Val1404Leu)
|
|
|
NM_001365276.2(TNXB):c.4234C>T (p.Arg1412Trp)
|
|
|
NM_001365276.2(TNXB):c.4235G>A (p.Arg1412Gln)
|
|
|
NM_001365276.2(TNXB):c.4237C>T (p.Pro1413Ser)
|
|
|
NM_001365276.2(TNXB):c.4238C>T (p.Pro1413Leu)
|
|
|
NM_001365276.2(TNXB):c.4250G>A (p.Arg1417His)
|
|
|
NM_001365276.2(TNXB):c.4262A>G (p.Lys1421Arg)
|
|
|
NM_001365276.2(TNXB):c.4274T>C (p.Val1425Ala)
|
|
|
NM_001365276.2(TNXB):c.4276A>G (p.Thr1426Ala)
|
|
|
NM_001365276.2(TNXB):c.4279G>T (p.Val1427Leu)
|
|
|
NM_001365276.2(TNXB):c.4300C>T (p.His1434Tyr)
|
|
|
NM_001365276.2(TNXB):c.4310A>T (p.Lys1437Met)
|
|
|
NM_001365276.2(TNXB):c.4318C>G (p.Leu1440Val)
|
|
|
NM_001365276.2(TNXB):c.4324G>A (p.Gly1442Ser)
|
|
|
NM_001365276.2(TNXB):c.4342C>T (p.Arg1448Cys)
|
|
|
NM_001365276.2(TNXB):c.4343G>A (p.Arg1448His)
|
|
|
NM_001365276.2(TNXB):c.4345G>C (p.Val1449Leu)
|
|
|
NM_001365276.2(TNXB):c.4352C>G (p.Pro1451Arg)
|
|
|
NM_001365276.2(TNXB):c.4363G>A (p.Val1455Met)
|
|
|
NM_001365276.2(TNXB):c.4369G>A (p.Val1457Met)
|
|
|
NM_001365276.2(TNXB):c.437A>G (p.His146Arg)
|
|
|
NM_001365276.2(TNXB):c.4397C>T (p.Pro1466Leu)
|
|
|
NM_001365276.2(TNXB):c.4426C>T (p.Arg1476Cys)
|
|
|
NM_001365276.2(TNXB):c.4523A>G (p.Tyr1508Cys)
|
|
|
NM_001365276.2(TNXB):c.4535_4552del (p.Asp1512_Val1517del)
|
rs774779027
|
|
NM_001365276.2(TNXB):c.4543C>T (p.Pro1515Ser)
|
|
|
NM_001365276.2(TNXB):c.457C>T (p.Arg153Cys)
|
|
|
NM_001365276.2(TNXB):c.4601C>T (p.Pro1534Leu)
|
|
|
NM_001365276.2(TNXB):c.4618A>G (p.Met1540Val)
|
|
|
NM_001365276.2(TNXB):c.4657C>T (p.Pro1553Ser)
|
|
|
NM_001365276.2(TNXB):c.4664C>T (p.Ser1555Phe)
|
|
|
NM_001365276.2(TNXB):c.4694C>G (p.Pro1565Arg)
|
|
|
NM_001365276.2(TNXB):c.4711G>A (p.Ala1571Thr)
|
|
|
NM_001365276.2(TNXB):c.4736G>A (p.Arg1579His)
|
|
|
NM_001365276.2(TNXB):c.4768C>G (p.Pro1590Ala)
|
|
|
NM_001365276.2(TNXB):c.47T>C (p.Val16Ala)
|
|
|
NM_001365276.2(TNXB):c.4820T>C (p.Phe1607Ser)
|
|
|
NM_001365276.2(TNXB):c.4846G>A (p.Gly1616Arg)
|
|
|
NM_001365276.2(TNXB):c.4861G>A (p.Val1621Met)
|
rs372387718
|
|
NM_001365276.2(TNXB):c.4867G>A (p.Val1623Met)
|
|
|
NM_001365276.2(TNXB):c.4883G>A (p.Arg1628Gln)
|
rs778225485
|
|
NM_001365276.2(TNXB):c.4888G>T (p.Val1630Phe)
|
|
|
NM_001365276.2(TNXB):c.4918A>C (p.Lys1640Gln)
|
|
|
NM_001365276.2(TNXB):c.4918A>G (p.Lys1640Glu)
|
|
|
NM_001365276.2(TNXB):c.4926G>C (p.Lys1642Asn)
|
|
|
NM_001365276.2(TNXB):c.4958G>A (p.Arg1653Gln)
|
rs772454700
|
|
NM_001365276.2(TNXB):c.4960C>T (p.Arg1654Cys)
|
|
|
NM_001365276.2(TNXB):c.4990+3G>A
|
|
|
NM_001365276.2(TNXB):c.4997G>A (p.Arg1666Gln)
|
|
|
NM_001365276.2(TNXB):c.4997G>T (p.Arg1666Leu)
|
|
|
NM_001365276.2(TNXB):c.5038C>A (p.Leu1680Met)
|
|
|
NM_001365276.2(TNXB):c.5047A>G (p.Thr1683Ala)
|
|
|
NM_001365276.2(TNXB):c.5050G>C (p.Asp1684His)
|
|
|
NM_001365276.2(TNXB):c.5071C>T (p.Arg1691Cys)
|
|
|
NM_001365276.2(TNXB):c.5085G>A (p.Thr1695=)
|
|
|
NM_001365276.2(TNXB):c.508C>A (p.Pro170Thr)
|
|
|
NM_001365276.2(TNXB):c.5103C>A (p.Phe1701Leu)
|
rs201360247
|
|
NM_001365276.2(TNXB):c.5121G>T (p.Gln1707His)
|
|
|
NM_001365276.2(TNXB):c.5124C>G (p.Phe1708Leu)
|
|
|
NM_001365276.2(TNXB):c.5146G>C (p.Val1716Leu)
|
|
|
NM_001365276.2(TNXB):c.5173T>C (p.Ser1725Pro)
|
|
|
NM_001365276.2(TNXB):c.5197G>A (p.Ala1733Thr)
|
|
|
NM_001365276.2(TNXB):c.5203C>T (p.Arg1735Cys)
|
|
|
NM_001365276.2(TNXB):c.5204G>A (p.Arg1735His)
|
|
|
NM_001365276.2(TNXB):c.5237G>A (p.Gly1746Asp)
|
|
|
NM_001365276.2(TNXB):c.5244G>T (p.Lys1748Asn)
|
|
|
NM_001365276.2(TNXB):c.5252G>A (p.Gly1751Asp)
|
|
|
NM_001365276.2(TNXB):c.5284C>T (p.Arg1762Trp)
|
|
|
NM_001365276.2(TNXB):c.5291C>T (p.Ala1764Val)
|
|
|
NM_001365276.2(TNXB):c.5299G>T (p.Asp1767Tyr)
|
|
|
NM_001365276.2(TNXB):c.5300A>G (p.Asp1767Gly)
|
|
|
NM_001365276.2(TNXB):c.5306G>A (p.Gly1769Glu)
|
|
|
NM_001365276.2(TNXB):c.5362A>T (p.Thr1788Ser)
|
|
|
NM_001365276.2(TNXB):c.5377G>A (p.Gly1793Ser)
|
|
|
NM_001365276.2(TNXB):c.5449C>T (p.Pro1817Ser)
|
|
|
NM_001365276.2(TNXB):c.5479A>G (p.Arg1827Gly)
|
|
|
NM_001365276.2(TNXB):c.5509G>T (p.Ala1837Ser)
|
|
|
NM_001365276.2(TNXB):c.5546A>G (p.His1849Arg)
|
|
|
NM_001365276.2(TNXB):c.5578G>A (p.Ala1860Thr)
|
|
|
NM_001365276.2(TNXB):c.5625G>T (p.Pro1875=)
|
|
|
NM_001365276.2(TNXB):c.5653G>A (p.Gly1885Arg)
|
|
|
NM_001365276.2(TNXB):c.5653G>C (p.Gly1885Arg)
|
|
|
NM_001365276.2(TNXB):c.5660T>C (p.Leu1887Ser)
|
|
|
NM_001365276.2(TNXB):c.5671G>A (p.Glu1891Lys)
|
|
|
NM_001365276.2(TNXB):c.5678C>T (p.Thr1893Met)
|
|
|
NM_001365276.2(TNXB):c.5694T>G (p.His1898Gln)
|
|
|
NM_001365276.2(TNXB):c.5723T>A (p.Phe1908Tyr)
|
rs1030656217
|
|
NM_001365276.2(TNXB):c.5734G>A (p.Glu1912Lys)
|
|
|
NM_001365276.2(TNXB):c.5752A>G (p.Arg1918Gly)
|
|
|
NM_001365276.2(TNXB):c.5758G>A (p.Gly1920Arg)
|
|
|
NM_001365276.2(TNXB):c.575A>G (p.Asn192Ser)
|
|
|
NM_001365276.2(TNXB):c.5777G>A (p.Arg1926His)
|
|
|
NM_001365276.2(TNXB):c.5791C>T (p.Arg1931Trp)
|
|
|
NM_001365276.2(TNXB):c.5824G>A (p.Asp1942Asn)
|
|
|
NM_001365276.2(TNXB):c.5872G>T (p.Val1958Leu)
|
|
|
NM_001365276.2(TNXB):c.5914G>C (p.Glu1972Gln)
|
|
|
NM_001365276.2(TNXB):c.5927A>T (p.Glu1976Val)
|
|
|
NM_001365276.2(TNXB):c.5932C>A (p.Pro1978Thr)
|
|
|
NM_001365276.2(TNXB):c.5947G>A (p.Glu1983Lys)
|
|
|
NM_001365276.2(TNXB):c.5947G>C (p.Glu1983Gln)
|
|
|
NM_001365276.2(TNXB):c.5981C>T (p.Thr1994Ile)
|
|
|
NM_001365276.2(TNXB):c.5989G>C (p.Asp1997His)
|
|
|
NM_001365276.2(TNXB):c.6001G>C (p.Asp2001His)
|
|
|
NM_001365276.2(TNXB):c.6007C>T (p.Leu2003Phe)
|
|
|
NM_001365276.2(TNXB):c.6035G>C (p.Gly2012Ala)
|
|
|
NM_001365276.2(TNXB):c.6100C>T (p.Pro2034Ser)
|
|
|
NM_001365276.2(TNXB):c.6116G>C (p.Gly2039Ala)
|
|
|
NM_001365276.2(TNXB):c.6131G>T (p.Gly2044Val)
|
|
|
NM_001365276.2(TNXB):c.6139C>T (p.Pro2047Ser)
|
|
|
NM_001365276.2(TNXB):c.6169G>A (p.Gly2057Ser)
|
|
|
NM_001365276.2(TNXB):c.6178G>A (p.Gly2060Ser)
|
|
|
NM_001365276.2(TNXB):c.6188G>T (p.Arg2063Leu)
|
|
|
NM_001365276.2(TNXB):c.6192G>A (p.Met2064Ile)
|
|
|
NM_001365276.2(TNXB):c.6211G>C (p.Gly2071Arg)
|
|
|
NM_001365276.2(TNXB):c.6214G>T (p.Val2072Leu)
|
|
|
NM_001365276.2(TNXB):c.6223G>A (p.Ala2075Thr)
|
|
|
NM_001365276.2(TNXB):c.6252A>T (p.Glu2084Asp)
|
|
|
NM_001365276.2(TNXB):c.6274C>G (p.Pro2092Ala)
|
|
|
NM_001365276.2(TNXB):c.6277G>A (p.Ala2093Thr)
|
|
|
NM_001365276.2(TNXB):c.6287C>A (p.Pro2096Gln)
|
|
|
NM_001365276.2(TNXB):c.6287C>T (p.Pro2096Leu)
|
rs534135812
|
|
NM_001365276.2(TNXB):c.6296G>A (p.Gly2099Glu)
|
|
|
NM_001365276.2(TNXB):c.6322C>T (p.Pro2108Ser)
|
|
|
NM_001365276.2(TNXB):c.6329C>T (p.Ser2110Leu)
|
|
|
NM_001365276.2(TNXB):c.6359G>A (p.Gly2120Asp)
|
|
|
NM_001365276.2(TNXB):c.6371C>T (p.Ser2124Phe)
|
|
|
NM_001365276.2(TNXB):c.6380T>G (p.Val2127Gly)
|
|
|
NM_001365276.2(TNXB):c.6395G>A (p.Arg2132Lys)
|
|
|
NM_001365276.2(TNXB):c.6403C>T (p.Arg2135Trp)
|
|
|
NM_001365276.2(TNXB):c.6404G>A (p.Arg2135Gln)
|
|
|
NM_001365276.2(TNXB):c.6419G>A (p.Arg2140His)
|
|
|
NM_001365276.2(TNXB):c.6426_6428del (p.Gly2143del)
|
|
|
NM_001365276.2(TNXB):c.6433G>A (p.Glu2145Lys)
|
|
|
NM_001365276.2(TNXB):c.6446C>G (p.Thr2149Ser)
|
|
|
NM_001365276.2(TNXB):c.6448G>A (p.Val2150Met)
|
|
|
NM_001365276.2(TNXB):c.6455G>A (p.Gly2152Asp)
|
|
|
NM_001365276.2(TNXB):c.6470G>T (p.Arg2157Leu)
|
|
|
NM_001365276.2(TNXB):c.6493G>A (p.Gly2165Ser)
|
|
|
NM_001365276.2(TNXB):c.6503A>C (p.Glu2168Ala)
|
|
|
NM_001365276.2(TNXB):c.6505G>C (p.Gly2169Arg)
|
|
|
NM_001365276.2(TNXB):c.6518G>C (p.Gly2173Ala)
|
|
|
NM_001365276.2(TNXB):c.6524T>C (p.Val2175Ala)
|
|
|
NM_001365276.2(TNXB):c.6580A>C (p.Lys2194Gln)
|
|
|
NM_001365276.2(TNXB):c.6616A>G (p.Thr2206Ala)
|
|
|
NM_001365276.2(TNXB):c.6622G>A (p.Asp2208Asn)
|
|
|
NM_001365276.2(TNXB):c.6632G>C (p.Ser2211Thr)
|
|
|
NM_001365276.2(TNXB):c.6644C>A (p.Thr2215Lys)
|
|
|
NM_001365276.2(TNXB):c.6668A>G (p.His2223Arg)
|
|
|
NM_001365276.2(TNXB):c.6675G>C (p.Leu2225Phe)
|
|
|
NM_001365276.2(TNXB):c.6697G>C (p.Gly2233Arg)
|
|
|
NM_001365276.2(TNXB):c.6715C>T (p.Arg2239Trp)
|
|
|
NM_001365276.2(TNXB):c.6716G>A (p.Arg2239Gln)
|
|
|
NM_001365276.2(TNXB):c.6716G>T (p.Arg2239Leu)
|
|
|
NM_001365276.2(TNXB):c.674G>A (p.Arg225His)
|
|
|
NM_001365276.2(TNXB):c.6767A>T (p.His2256Leu)
|
|
|
NM_001365276.2(TNXB):c.6779T>A (p.Met2260Lys)
|
|
|
NM_001365276.2(TNXB):c.677G>A (p.Gly226Glu)
|
|
|
NM_001365276.2(TNXB):c.6799G>A (p.Gly2267Ser)
|
|
|
NM_001365276.2(TNXB):c.679C>T (p.Arg227Cys)
|
|
|
NM_001365276.2(TNXB):c.6820G>A (p.Val2274Met)
|
|
|
NM_001365276.2(TNXB):c.6833G>T (p.Gly2278Val)
|
rs1016095149
|
|
NM_001365276.2(TNXB):c.6853G>A (p.Asp2285Asn)
|
|
|
NM_001365276.2(TNXB):c.6887C>T (p.Pro2296Leu)
|
|
|
NM_001365276.2(TNXB):c.6895G>C (p.Glu2299Gln)
|
|
|
NM_001365276.2(TNXB):c.6913C>T (p.Arg2305Cys)
|
|
|
NM_001365276.2(TNXB):c.6914G>A (p.Arg2305His)
|
|
|
NM_001365276.2(TNXB):c.6928A>G (p.Thr2310Ala)
|
|
|
NM_001365276.2(TNXB):c.6929C>T (p.Thr2310Ile)
|
|
|
NM_001365276.2(TNXB):c.6931G>T (p.Val2311Leu)
|
|
|
NM_001365276.2(TNXB):c.694G>A (p.Val232Met)
|
|
|
NM_001365276.2(TNXB):c.6952T>A (p.Ser2318Thr)
|
|
|
NM_001365276.2(TNXB):c.6971C>T (p.Thr2324Met)
|
|
|
NM_001365276.2(TNXB):c.6973G>A (p.Val2325Ile)
|
rs140304758
|
|
NM_001365276.2(TNXB):c.6973G>T (p.Val2325Phe)
|
|
|
NM_001365276.2(TNXB):c.7019G>A (p.Gly2340Glu)
|
|
|
NM_001365276.2(TNXB):c.7042C>T (p.Arg2348Trp)
|
|
|
NM_001365276.2(TNXB):c.7043G>A (p.Arg2348Gln)
|
|
|
NM_001365276.2(TNXB):c.7061A>G (p.Asp2354Gly)
|
|
|
NM_001365276.2(TNXB):c.7078G>A (p.Gly2360Ser)
|
|
|
NM_001365276.2(TNXB):c.7088C>G (p.Pro2363Arg)
|
|
|
NM_001365276.2(TNXB):c.7096A>G (p.Lys2366Glu)
|
|
|
NM_001365276.2(TNXB):c.7102A>G (p.Lys2368Glu)
|
|
|
NM_001365276.2(TNXB):c.7111C>G (p.Leu2371Val)
|
|
|
NM_001365276.2(TNXB):c.7124A>C (p.His2375Pro)
|
|
|
NM_001365276.2(TNXB):c.7136G>A (p.Arg2379His)
|
|
|
NM_001365276.2(TNXB):c.7150T>A (p.Ser2384Thr)
|
|
|
NM_001365276.2(TNXB):c.7168+1G>T
|
rs748759848
|
|
NM_001365276.2(TNXB):c.7169C>T (p.Ala2390Val)
|
|
|
NM_001365276.2(TNXB):c.7186C>T (p.Pro2396Ser)
|
|
|
NM_001365276.2(TNXB):c.7187C>G (p.Pro2396Arg)
|
|
|
NM_001365276.2(TNXB):c.7243G>C (p.Gly2415Arg)
|
|
|
NM_001365276.2(TNXB):c.7251_7253delinsGAT (p.Thr2418Ile)
|
|
|
NM_001365276.2(TNXB):c.7259C>T (p.Thr2420Ile)
|
|
|
NM_001365276.2(TNXB):c.7277C>T (p.Ser2426Leu)
|
|
|
NM_001365276.2(TNXB):c.7307G>A (p.Gly2436Asp)
|
|
|
NM_001365276.2(TNXB):c.7325C>T (p.Thr2442Ile)
|
|
|
NM_001365276.2(TNXB):c.7327G>A (p.Val2443Met)
|
|
|
NM_001365276.2(TNXB):c.7347C>G (p.Asp2449Glu)
|
|
|
NM_001365276.2(TNXB):c.7348G>A (p.Gly2450Arg)
|
|
|
NM_001365276.2(TNXB):c.7354C>T (p.Pro2452Ser)
|
|
|
NM_001365276.2(TNXB):c.735C>G (p.Ser245Arg)
|
|
|
NM_001365276.2(TNXB):c.7366C>T (p.Arg2456Cys)
|
|
|
NM_001365276.2(TNXB):c.7367G>A (p.Arg2456His)
|
|
|
NM_001365276.2(TNXB):c.7372G>A (p.Gly2458Arg)
|
|
|
NM_001365276.2(TNXB):c.7378G>A (p.Glu2460Lys)
|
|
|
NM_001365276.2(TNXB):c.7396G>C (p.Val2466Leu)
|
|
|
NM_001365276.2(TNXB):c.7399G>A (p.Gly2467Arg)
|
|
|
NM_001365276.2(TNXB):c.7403G>T (p.Gly2468Val)
|
|
|
NM_001365276.2(TNXB):c.7418G>T (p.Arg2473Leu)
|
|
|
NM_001365276.2(TNXB):c.7428G>T (p.Lys2476Asn)
|
|
|
NM_001365276.2(TNXB):c.7447C>T (p.His2483Tyr)
|
|
|
NM_001365276.2(TNXB):c.7456C>T (p.Arg2486Trp)
|
rs752650618
|
|
NM_001365276.2(TNXB):c.7462G>C (p.Val2488Leu)
|
|
|
NM_001365276.2(TNXB):c.748C>T (p.Pro250Ser)
|
|
|
NM_001365276.2(TNXB):c.7492+1G>A
|
|
|
NM_001365276.2(TNXB):c.7493C>T (p.Ala2498Val)
|
|
|
NM_001365276.2(TNXB):c.7525C>T (p.Pro2509Ser)
|
|
|
NM_001365276.2(TNXB):c.7529C>T (p.Thr2510Ile)
|
|
|
NM_001365276.2(TNXB):c.7534C>G (p.Pro2512Ala)
|
|
|
NM_001365276.2(TNXB):c.7561G>C (p.Glu2521Gln)
|
|
|
NM_001365276.2(TNXB):c.7595G>A (p.Gly2532Glu)
|
|
|
NM_001365276.2(TNXB):c.7610C>T (p.Ser2537Leu)
|
|
|
NM_001365276.2(TNXB):c.7630G>A (p.Val2544Ile)
|
|
|
NM_001365276.2(TNXB):c.7651T>G (p.Ser2551Ala)
|
|
|
NM_001365276.2(TNXB):c.7660G>A (p.Val2554Met)
|
|
|
NM_001365276.2(TNXB):c.7664A>C (p.Gln2555Pro)
|
|
|
NM_001365276.2(TNXB):c.7669A>G (p.Lys2557Glu)
|
|
|
NM_001365276.2(TNXB):c.7673A>T (p.Asp2558Val)
|
|
|
NM_001365276.2(TNXB):c.7696G>A (p.Val2566Met)
|
|
|
NM_001365276.2(TNXB):c.7718G>A (p.Ser2573Asn)
|
|
|
NM_001365276.2(TNXB):c.7751G>C (p.Arg2584Pro)
|
|
|
NM_001365276.2(TNXB):c.7787G>A (p.Gly2596Glu)
|
|
|
NM_001365276.2(TNXB):c.7828G>A (p.Asp2610Asn)
|
|
|
NM_001365276.2(TNXB):c.7837G>A (p.Glu2613Lys)
|
|
|
NM_001365276.2(TNXB):c.7858A>C (p.Thr2620Pro)
|
|
|
NM_001365276.2(TNXB):c.7870G>A (p.Glu2624Lys)
|
|
|
NM_001365276.2(TNXB):c.7876C>T (p.Pro2626Ser)
|
|
|
NM_001365276.2(TNXB):c.7876_7877delinsTT (p.Pro2626Phe)
|
rs2151902012
|
|
NM_001365276.2(TNXB):c.7877C>T (p.Pro2626Leu)
|
|
|
NM_001365276.2(TNXB):c.7888C>T (p.Arg2630Cys)
|
|
|
NM_001365276.2(TNXB):c.7994G>A (p.Gly2665Glu)
|
|
|
NM_001365276.2(TNXB):c.8017C>T (p.Arg2673Trp)
|
|
|
NM_001365276.2(TNXB):c.8018G>A (p.Arg2673Gln)
|
|
|
NM_001365276.2(TNXB):c.8042T>A (p.Val2681Asp)
|
|
|
NM_001365276.2(TNXB):c.80C>T (p.Ser27Phe)
|
|
|
NM_001365276.2(TNXB):c.8110C>T (p.Arg2704Cys)
|
|
|
NM_001365276.2(TNXB):c.8113G>A (p.Val2705Met)
|
|
|
NM_001365276.2(TNXB):c.8150A>T (p.Glu2717Val)
|
|
|
NM_001365276.2(TNXB):c.8171C>T (p.Thr2724Met)
|
|
|
NM_001365276.2(TNXB):c.817GAC[1] (p.Asp274del)
|
|
|
NM_001365276.2(TNXB):c.8183C>T (p.Thr2728Ile)
|
|
|
NM_001365276.2(TNXB):c.8192C>A (p.Pro2731Gln)
|
|
|
NM_001365276.2(TNXB):c.8192C>T (p.Pro2731Leu)
|
rs440160
|
|
NM_001365276.2(TNXB):c.8210C>T (p.Pro2737Leu)
|
|
|
NM_001365276.2(TNXB):c.8227A>G (p.Thr2743Ala)
|
|
|
NM_001365276.2(TNXB):c.8243C>T (p.Ser2748Phe)
|
|
|
NM_001365276.2(TNXB):c.8252C>G (p.Ser2751Trp)
|
|
|
NM_001365276.2(TNXB):c.8252C>T (p.Ser2751Leu)
|
|
|
NM_001365276.2(TNXB):c.8284C>T (p.His2762Tyr)
|
|
|
NM_001365276.2(TNXB):c.8285A>C (p.His2762Pro)
|
|
|
NM_001365276.2(TNXB):c.8289C>G (p.Phe2763Leu)
|
|
|
NM_001365276.2(TNXB):c.8302G>A (p.Val2768Met)
|
|
|
NM_001365276.2(TNXB):c.8321A>G (p.Asp2774Gly)
|
|
|
NM_001365276.2(TNXB):c.8323G>C (p.Gly2775Arg)
|
|
|
NM_001365276.2(TNXB):c.8326C>G (p.Arg2776Gly)
|
|
|
NM_001365276.2(TNXB):c.8336T>C (p.Val2779Ala)
|
|
|
NM_001365276.2(TNXB):c.8353G>A (p.Glu2785Lys)
|
rs771584531
|
|
NM_001365276.2(TNXB):c.8357A>G (p.Glu2786Gly)
|
|
|
NM_001365276.2(TNXB):c.8366T>C (p.Val2789Ala)
|
|
|
NM_001365276.2(TNXB):c.8369C>T (p.Thr2790Ile)
|
|
|
NM_001365276.2(TNXB):c.8408A>C (p.His2803Pro)
|
|
|
NM_001365276.2(TNXB):c.8423A>G (p.His2808Arg)
|
|
|
NM_001365276.2(TNXB):c.8434C>T (p.Arg2812Cys)
|
|
|
NM_001365276.2(TNXB):c.8435G>A (p.Arg2812His)
|
|
|
NM_001365276.2(TNXB):c.8458G>T (p.Gly2820Cys)
|
|
|
NM_001365276.2(TNXB):c.8495A>T (p.Gln2832Leu)
|
|
|
NM_001365276.2(TNXB):c.8513C>A (p.Thr2838Asn)
|
|
|
NM_001365276.2(TNXB):c.8513C>T (p.Thr2838Ile)
|
|
|
NM_001365276.2(TNXB):c.8528A>G (p.Asn2843Ser)
|
|
|
NM_001365276.2(TNXB):c.8536C>T (p.Arg2846Cys)
|
|
|
NM_001365276.2(TNXB):c.8554G>A (p.Val2852Met)
|
|
|
NM_001365276.2(TNXB):c.8561A>G (p.Asp2854Gly)
|
|
|
NM_001365276.2(TNXB):c.8567C>T (p.Thr2856Ile)
|
|
|
NM_001365276.2(TNXB):c.8569C>T (p.Pro2857Ser)
|
|
|
NM_001365276.2(TNXB):c.8602G>A (p.Glu2868Lys)
|
|
|
NM_001365276.2(TNXB):c.8665C>T (p.Arg2889Trp)
|
|
|
NM_001365276.2(TNXB):c.8674G>C (p.Gly2892Arg)
|
|
|
NM_001365276.2(TNXB):c.8686G>A (p.Gly2896Arg)
|
|
|
NM_001365276.2(TNXB):c.8716C>T (p.His2906Tyr)
|
|
|
NM_001365276.2(TNXB):c.8748C>A (p.His2916Gln)
|
|
|
NM_001365276.2(TNXB):c.8749G>A (p.Gly2917Ser)
|
|
|
NM_001365276.2(TNXB):c.8758C>T (p.Arg2920Cys)
|
|
|
NM_001365276.2(TNXB):c.8759G>A (p.Arg2920His)
|
|
|
NM_001365276.2(TNXB):c.8764G>A (p.Gly2922Ser)
|
|
|
NM_001365276.2(TNXB):c.8780T>C (p.Ile2927Thr)
|
|
|
NM_001365276.2(TNXB):c.8791+1G>C
|
|
|
NM_001365276.2(TNXB):c.881G>A (p.Arg294His)
|
|
|
NM_001365276.2(TNXB):c.8825C>T (p.Pro2942Leu)
|
|
|
NM_001365276.2(TNXB):c.8831C>T (p.Thr2944Met)
|
|
|
NM_001365276.2(TNXB):c.8867G>A (p.Gly2956Glu)
|
|
|
NM_001365276.2(TNXB):c.886G>C (p.Val296Leu)
|
|
|
NM_001365276.2(TNXB):c.8921T>C (p.Ile2974Thr)
|
|
|
NM_001365276.2(TNXB):c.8938G>A (p.Asp2980Asn)
|
|
|
NM_001365276.2(TNXB):c.8951T>C (p.Val2984Ala)
|
|
|
NM_001365276.2(TNXB):c.8974C>T (p.Arg2992Trp)
|
|
|
NM_001365276.2(TNXB):c.8986G>A (p.Val2996Met)
|
|
|
NM_001365276.2(TNXB):c.8987T>C (p.Val2996Ala)
|
|
|
NM_001365276.2(TNXB):c.9005A>G (p.Glu3002Gly)
|
|
|
NM_001365276.2(TNXB):c.9007A>T (p.Ser3003Cys)
|
|
|
NM_001365276.2(TNXB):c.9035C>T (p.Pro3012Leu)
|
|
|
NM_001365276.2(TNXB):c.9037G>A (p.Gly3013Arg)
|
|
|
NM_001365276.2(TNXB):c.9056A>C (p.His3019Pro)
|
|
|
NM_001365276.2(TNXB):c.9073G>A (p.Glu3025Lys)
|
|
|
NM_001365276.2(TNXB):c.9077G>C (p.Gly3026Ala)
|
|
|
NM_001365276.2(TNXB):c.9085G>A (p.Val3029Met)
|
|
|
NM_001365276.2(TNXB):c.910G>A (p.Glu304Lys)
|
rs907925140
|
|
NM_001365276.2(TNXB):c.9118C>G (p.Pro3040Ala)
|
|
|
NM_001365276.2(TNXB):c.9125A>G (p.Asp3042Gly)
|
|
|
NM_001365276.2(TNXB):c.9140C>T (p.Thr3047Ile)
|
|
|
NM_001365276.2(TNXB):c.9159G>A (p.Met3053Ile)
|
|
|
NM_001365276.2(TNXB):c.9161C>T (p.Thr3054Ile)
|
|
|
NM_001365276.2(TNXB):c.9164C>T (p.Pro3055Leu)
|
|
|
NM_001365276.2(TNXB):c.9169C>G (p.Pro3057Ala)
|
rs542833871
|
|
NM_001365276.2(TNXB):c.9173C>T (p.Pro3058Leu)
|
|
|
NM_001365276.2(TNXB):c.919G>C (p.Gly307Arg)
|
|
|
NM_001365276.2(TNXB):c.9223T>A (p.Ser3075Thr)
|
|
|
NM_001365276.2(TNXB):c.9229A>C (p.Ser3077Arg)
|
|
|
NM_001365276.2(TNXB):c.9250G>A (p.Glu3084Lys)
|
|
|
NM_001365276.2(TNXB):c.9259T>C (p.Phe3087Leu)
|
|
|
NM_001365276.2(TNXB):c.9267C>G (p.His3089Gln)
|
|
|
NM_001365276.2(TNXB):c.9279G>A (p.Gln3093=)
|
|
|
NM_001365276.2(TNXB):c.9320C>T (p.Pro3107Leu)
|
|
|
NM_001365276.2(TNXB):c.9334G>A (p.Gly3112Arg)
|
|
|
NM_001365276.2(TNXB):c.935C>G (p.Pro312Arg)
|
|
|
NM_001365276.2(TNXB):c.935C>T (p.Pro312Leu)
|
rs768599858
|
|
NM_001365276.2(TNXB):c.9366T>G (p.His3122Gln)
|
|
|
NM_001365276.2(TNXB):c.9388G>A (p.Gly3130Ser)
|
|
|
NM_001365276.2(TNXB):c.9389G>T (p.Gly3130Val)
|
|
|
NM_001365276.2(TNXB):c.9409G>A (p.Val3137Ile)
|
|
|
NM_001365276.2(TNXB):c.9428T>C (p.Ile3143Thr)
|
|
|
NM_001365276.2(TNXB):c.9476A>G (p.Glu3159Gly)
|
|
|
NM_001365276.2(TNXB):c.9520G>A (p.Val3174Met)
|
|
|
NM_001365276.2(TNXB):c.9526G>A (p.Gly3176Arg)
|
|
|
NM_001365276.2(TNXB):c.952C>T (p.Arg318Trp)
|
|
|
NM_001365276.2(TNXB):c.9535C>T (p.Pro3179Ser)
|
|
|
NM_001365276.2(TNXB):c.9542C>T (p.Ser3181Leu)
|
|
|
NM_001365276.2(TNXB):c.9550C>A (p.Leu3184Ile)
|
|
|
NM_001365276.2(TNXB):c.9556T>A (p.Trp3186Arg)
|
|
|
NM_001365276.2(TNXB):c.9566C>T (p.Pro3189Leu)
|
|
|
NM_001365276.2(TNXB):c.9574C>T (p.Arg3192Cys)
|
|
|
NM_001365276.2(TNXB):c.9592G>A (p.Val3198Met)
|
|
|
NM_001365276.2(TNXB):c.9598T>G (p.Tyr3200Asp)
|
|
|
NM_001365276.2(TNXB):c.959G>A (p.Arg320His)
|
|
|
NM_001365276.2(TNXB):c.9608G>A (p.Arg3203Lys)
|
|
|
NM_001365276.2(TNXB):c.9632G>A (p.Arg3211His)
|
rs1304146232
|
|
NM_001365276.2(TNXB):c.9652G>A (p.Glu3218Lys)
|
|
|
NM_001365276.2(TNXB):c.9665G>A (p.Gly3222Glu)
|
|
|
NM_001365276.2(TNXB):c.9667G>T (p.Gly3223Cys)
|
|
|
NM_001365276.2(TNXB):c.9671T>C (p.Leu3224Pro)
|
|
|
NM_001365276.2(TNXB):c.9683G>A (p.Arg3228His)
|
|
|
NM_001365276.2(TNXB):c.9691A>C (p.Lys3231Gln)
|
|
|
NM_001365276.2(TNXB):c.9706G>A (p.Gly3236Ser)
|
|
|
NM_001365276.2(TNXB):c.9707G>A (p.Gly3236Asp)
|
|
|
NM_001365276.2(TNXB):c.9716A>T (p.Glu3239Val)
|
|
|
NM_001365276.2(TNXB):c.9736G>A (p.Val3246Met)
|
|
|
NM_001365276.2(TNXB):c.9745G>T (p.Val3249Leu)
|
|
|
NM_001365276.2(TNXB):c.9757+4A>G
|
|
|
NM_001365276.2(TNXB):c.9766C>T (p.Pro3256Ser)
|
|
|
NM_001365276.2(TNXB):c.9778C>G (p.Pro3260Ala)
|
|
|
NM_001365276.2(TNXB):c.9782T>C (p.Val3261Ala)
|
|
|
NM_001365276.2(TNXB):c.9790C>T (p.Arg3264Cys)
|
|
|
NM_001365276.2(TNXB):c.9791G>A (p.Arg3264His)
|
|
|
NM_001365276.2(TNXB):c.9806C>T (p.Ala3269Val)
|
|
|
NM_001365276.2(TNXB):c.9862C>T (p.Pro3288Ser)
|
|
|
NM_001365276.2(TNXB):c.988C>G (p.Pro330Ala)
|
|
|
NM_001365276.2(TNXB):c.9929G>C (p.Gly3310Ala)
|
|
|
NM_001365276.2(TNXB):c.9940G>A (p.Ala3314Thr)
|
|
|
NM_001365276.2(TNXB):c.9970C>A (p.Arg3324Ser)
|
|
|
NM_001365276.2(TNXB):c.9970C>T (p.Arg3324Cys)
|
rs768943895
|
|
NM_001365276.2(TNXB):c.997A>C (p.Thr333Pro)
|
|
|
NM_001367624.2(ZNF469):c.-3G>A
|
|
|
NM_001367624.2(ZNF469):c.10000G>T (p.Asp3334Tyr)
|
|
|
NM_001367624.2(ZNF469):c.10003C>T (p.Pro3335Ser)
|
rs1252058328
|
|
NM_001367624.2(ZNF469):c.10040C>A (p.Pro3347His)
|
|
|
NM_001367624.2(ZNF469):c.10112C>T (p.Pro3371Leu)
|
|
|
NM_001367624.2(ZNF469):c.10115G>A (p.Arg3372Gln)
|
|
|
NM_001367624.2(ZNF469):c.10130A>C (p.His3377Pro)
|
|
|
NM_001367624.2(ZNF469):c.10145C>G (p.Ala3382Gly)
|
|
|
NM_001367624.2(ZNF469):c.10178G>A (p.Arg3393Gln)
|
|
|
NM_001367624.2(ZNF469):c.10192C>T (p.His3398Tyr)
|
|
|
NM_001367624.2(ZNF469):c.10199C>A (p.Pro3400Gln)
|
|
|
NM_001367624.2(ZNF469):c.10199C>G (p.Pro3400Arg)
|
rs281165933
|
|
NM_001367624.2(ZNF469):c.10199C>T (p.Pro3400Leu)
|
rs281165933
|
|
NM_001367624.2(ZNF469):c.10286A>G (p.Lys3429Arg)
|
|
|
NM_001367624.2(ZNF469):c.10310T>A (p.Met3437Lys)
|
|
|
NM_001367624.2(ZNF469):c.10321C>G (p.Leu3441Val)
|
|
|
NM_001367624.2(ZNF469):c.10322_10351del (p.Leu3441_Phe3450del)
|
|
|
NM_001367624.2(ZNF469):c.10346C>G (p.Ala3449Gly)
|
|
|
NM_001367624.2(ZNF469):c.10390C>T (p.Arg3464Trp)
|
|
|
NM_001367624.2(ZNF469):c.10399G>A (p.Glu3467Lys)
|
|
|
NM_001367624.2(ZNF469):c.103C>G (p.Leu35Val)
|
|
|
NM_001367624.2(ZNF469):c.1040G>A (p.Arg347His)
|
|
|
NM_001367624.2(ZNF469):c.1040G>T (p.Arg347Leu)
|
|
|
NM_001367624.2(ZNF469):c.10418A>C (p.Lys3473Thr)
|
|
|
NM_001367624.2(ZNF469):c.10432G>A (p.Ala3478Thr)
|
|
|
NM_001367624.2(ZNF469):c.10436T>C (p.Met3479Thr)
|
|
|
NM_001367624.2(ZNF469):c.10437G>A (p.Met3479Ile)
|
|
|
NM_001367624.2(ZNF469):c.10472C>T (p.Pro3491Leu)
|
|
|
NM_001367624.2(ZNF469):c.10481G>C (p.Arg3494Pro)
|
rs935936614
|
|
NM_001367624.2(ZNF469):c.1048G>T (p.Asp350Tyr)
|
|
|
NM_001367624.2(ZNF469):c.10505A>G (p.Glu3502Gly)
|
|
|
NM_001367624.2(ZNF469):c.10528C>T (p.His3510Tyr)
|
|
|
NM_001367624.2(ZNF469):c.10546G>T (p.Ala3516Ser)
|
|
|
NM_001367624.2(ZNF469):c.10558A>C (p.Thr3520Pro)
|
|
|
NM_001367624.2(ZNF469):c.10564G>A (p.Gly3522Arg)
|
|
|
NM_001367624.2(ZNF469):c.10589C>T (p.Pro3530Leu)
|
|
|
NM_001367624.2(ZNF469):c.10600G>A (p.Val3534Met)
|
|
|
NM_001367624.2(ZNF469):c.10649G>A (p.Cys3550Tyr)
|
|
|
NM_001367624.2(ZNF469):c.10655C>T (p.Pro3552Leu)
|
|
|
NM_001367624.2(ZNF469):c.10658C>T (p.Pro3553Leu)
|
|
|
NM_001367624.2(ZNF469):c.10693G>A (p.Gly3565Ser)
|
|
|
NM_001367624.2(ZNF469):c.10702G>T (p.Asp3568Tyr)
|
|
|
NM_001367624.2(ZNF469):c.10705T>G (p.Cys3569Gly)
|
|
|
NM_001367624.2(ZNF469):c.10709C>T (p.Ala3570Val)
|
|
|
NM_001367624.2(ZNF469):c.10724T>C (p.Leu3575Pro)
|
|
|
NM_001367624.2(ZNF469):c.10730G>T (p.Arg3577Met)
|
|
|
NM_001367624.2(ZNF469):c.10741G>A (p.Glu3581Lys)
|
|
|
NM_001367624.2(ZNF469):c.10748C>T (p.Ser3583Phe)
|
|
|
NM_001367624.2(ZNF469):c.10793G>A (p.Gly3598Glu)
|
|
|
NM_001367624.2(ZNF469):c.10807C>T (p.Arg3603Trp)
|
|
|
NM_001367624.2(ZNF469):c.1082C>T (p.Ala361Val)
|
|
|
NM_001367624.2(ZNF469):c.10843A>G (p.Arg3615Gly)
|
|
|
NM_001367624.2(ZNF469):c.10846G>A (p.Ala3616Thr)
|
|
|
NM_001367624.2(ZNF469):c.10849C>T (p.Pro3617Ser)
|
|
|
NM_001367624.2(ZNF469):c.10861T>C (p.Ser3621Pro)
|
|
|
NM_001367624.2(ZNF469):c.10870C>T (p.Arg3624Cys)
|
|
|
NM_001367624.2(ZNF469):c.10889G>T (p.Arg3630Leu)
|
|
|
NM_001367624.2(ZNF469):c.10922A>T (p.Asp3641Val)
|
|
|
NM_001367624.2(ZNF469):c.10942_10944del (p.Lys3648del)
|
|
|
NM_001367624.2(ZNF469):c.10961A>T (p.His3654Leu)
|
|
|
NM_001367624.2(ZNF469):c.10972_10973delinsC (p.Glu3658fs)
|
|
|
NM_001367624.2(ZNF469):c.10973A>C (p.Glu3658Ala)
|
|
|
NM_001367624.2(ZNF469):c.10978G>A (p.Gly3660Arg)
|
|
|
NM_001367624.2(ZNF469):c.10997A>G (p.His3666Arg)
|
|
|
NM_001367624.2(ZNF469):c.11020G>A (p.Ala3674Thr)
|
|
|
NM_001367624.2(ZNF469):c.11048G>A (p.Arg3683Lys)
|
|
|
NM_001367624.2(ZNF469):c.11050T>C (p.Ser3684Pro)
|
|
|
NM_001367624.2(ZNF469):c.11059T>A (p.Ser3687Thr)
|
|
|
NM_001367624.2(ZNF469):c.11066C>G (p.Pro3689Arg)
|
|
|
NM_001367624.2(ZNF469):c.1106C>G (p.Ser369Cys)
|
|
|
NM_001367624.2(ZNF469):c.11082G>T (p.Lys3694Asn)
|
|
|
NM_001367624.2(ZNF469):c.11105C>T (p.Ala3702Val)
|
|
|
NM_001367624.2(ZNF469):c.11125G>A (p.Gly3709Arg)
|
|
|
NM_001367624.2(ZNF469):c.11134G>C (p.Ala3712Pro)
|
rs759634111
|
|
NM_001367624.2(ZNF469):c.11177C>T (p.Ala3726Val)
|
|
|
NM_001367624.2(ZNF469):c.11215C>T (p.Arg3739Cys)
|
|
|
NM_001367624.2(ZNF469):c.11261G>A (p.Ser3754Asn)
|
|
|
NM_001367624.2(ZNF469):c.11281A>G (p.Thr3761Ala)
|
rs2142317382
|
|
NM_001367624.2(ZNF469):c.11284G>A (p.Ala3762Thr)
|
|
|
NM_001367624.2(ZNF469):c.11288C>G (p.Thr3763Ser)
|
|
|
NM_001367624.2(ZNF469):c.11317C>G (p.Arg3773Gly)
|
|
|
NM_001367624.2(ZNF469):c.11321G>A (p.Ser3774Asn)
|
|
|
NM_001367624.2(ZNF469):c.11329C>T (p.Pro3777Ser)
|
|
|
NM_001367624.2(ZNF469):c.11342C>A (p.Pro3781His)
|
|
|
NM_001367624.2(ZNF469):c.11378C>G (p.Pro3793Arg)
|
|
|
NM_001367624.2(ZNF469):c.11407G>A (p.Gly3803Arg)
|
|
|
NM_001367624.2(ZNF469):c.11411G>A (p.Ser3804Asn)
|
|
|
NM_001367624.2(ZNF469):c.11439C>G (p.Ser3813Arg)
|
|
|
NM_001367624.2(ZNF469):c.11473C>T (p.Pro3825Ser)
|
|
|
NM_001367624.2(ZNF469):c.11483G>A (p.Ser3828Asn)
|
|
|
NM_001367624.2(ZNF469):c.11494G>A (p.Gly3832Arg)
|
|
|
NM_001367624.2(ZNF469):c.1149A>T (p.Arg383Ser)
|
|
|
NM_001367624.2(ZNF469):c.11513C>T (p.Pro3838Leu)
|
|
|
NM_001367624.2(ZNF469):c.11515T>G (p.Ser3839Ala)
|
|
|
NM_001367624.2(ZNF469):c.11530C>G (p.Pro3844Ala)
|
|
|
NM_001367624.2(ZNF469):c.11534C>G (p.Pro3845Arg)
|
|
|
NM_001367624.2(ZNF469):c.11534C>T (p.Pro3845Leu)
|
|
|
NM_001367624.2(ZNF469):c.11536dup (p.Arg3846fs)
|
rs1192814702
|
|
NM_001367624.2(ZNF469):c.11550G>T (p.Lys3850Asn)
|
|
|
NM_001367624.2(ZNF469):c.1159G>A (p.Ala387Thr)
|
|
|
NM_001367624.2(ZNF469):c.11604C>G (p.Asn3868Lys)
|
|
|
NM_001367624.2(ZNF469):c.11628G>T (p.Glu3876Asp)
|
|
|
NM_001367624.2(ZNF469):c.11629C>G (p.Gln3877Glu)
|
|
|
NM_001367624.2(ZNF469):c.11632C>G (p.Arg3878Gly)
|
|
|
NM_001367624.2(ZNF469):c.11632C>T (p.Arg3878Trp)
|
|
|
NM_001367624.2(ZNF469):c.1163A>G (p.Gln388Arg)
|
|
|
NM_001367624.2(ZNF469):c.11644C>G (p.Pro3882Ala)
|
|
|
NM_001367624.2(ZNF469):c.11654C>T (p.Thr3885Ile)
|
|
|
NM_001367624.2(ZNF469):c.11659A>T (p.Arg3887Trp)
|
|
|
NM_001367624.2(ZNF469):c.11675G>A (p.Gly3892Asp)
|
|
|
NM_001367624.2(ZNF469):c.11714C>T (p.Pro3905Leu)
|
|
|
NM_001367624.2(ZNF469):c.11756C>T (p.Pro3919Leu)
|
|
|
NM_001367624.2(ZNF469):c.11756_11757inv (p.Pro3919Leu)
|
|
|
NM_001367624.2(ZNF469):c.1175G>T (p.Gly392Val)
|
|
|
NM_001367624.2(ZNF469):c.11783A>T (p.Gln3928Leu)
|
|
|
NM_001367624.2(ZNF469):c.11804T>A (p.Leu3935His)
|
|
|
NM_001367624.2(ZNF469):c.1190C>A (p.Pro397His)
|
|
|
NM_001367624.2(ZNF469):c.1222G>A (p.Gly408Arg)
|
|
|
NM_001367624.2(ZNF469):c.1256G>C (p.Ser419Thr)
|
|
|
NM_001367624.2(ZNF469):c.1328C>T (p.Pro443Leu)
|
|
|
NM_001367624.2(ZNF469):c.1357G>T (p.Gly453Trp)
|
|
|
NM_001367624.2(ZNF469):c.1363C>A (p.Pro455Thr)
|
|
|
NM_001367624.2(ZNF469):c.136A>C (p.Lys46Gln)
|
|
|
NM_001367624.2(ZNF469):c.1424G>A (p.Cys475Tyr)
|
|
|
NM_001367624.2(ZNF469):c.1432C>G (p.Gln478Glu)
|
|
|
NM_001367624.2(ZNF469):c.1459G>C (p.Val487Leu)
|
|
|
NM_001367624.2(ZNF469):c.1466C>T (p.Pro489Leu)
|
|
|
NM_001367624.2(ZNF469):c.1474C>T (p.Arg492Trp)
|
|
|
NM_001367624.2(ZNF469):c.1488C>A (p.His496Gln)
|
|
|
NM_001367624.2(ZNF469):c.1499T>C (p.Met500Thr)
|
|
|
NM_001367624.2(ZNF469):c.1522G>T (p.Ala508Ser)
|
|
|
NM_001367624.2(ZNF469):c.1523C>T (p.Ala508Val)
|
|
|
NM_001367624.2(ZNF469):c.1528G>A (p.Gly510Ser)
|
rs755555951
|
|
NM_001367624.2(ZNF469):c.1528_1529delinsAC (p.Gly510Thr)
|
rs1555518716
|
|
NM_001367624.2(ZNF469):c.1534G>C (p.Glu512Gln)
|
|
|
NM_001367624.2(ZNF469):c.1550G>T (p.Ser517Ile)
|
|
|
NM_001367624.2(ZNF469):c.1558G>T (p.Ala520Ser)
|
|
|
NM_001367624.2(ZNF469):c.155G>A (p.Gly52Asp)
|
|
|
NM_001367624.2(ZNF469):c.157G>A (p.Gly53Ser)
|
|
|
NM_001367624.2(ZNF469):c.1583C>A (p.Pro528Gln)
|
|
|
NM_001367624.2(ZNF469):c.1624G>A (p.Gly542Ser)
|
|
|
NM_001367624.2(ZNF469):c.1631C>T (p.Ser544Phe)
|
|
|
NM_001367624.2(ZNF469):c.1667C>T (p.Pro556Leu)
|
|
|
NM_001367624.2(ZNF469):c.1678C>A (p.Pro560Thr)
|
|
|
NM_001367624.2(ZNF469):c.1679C>T (p.Pro560Leu)
|
|
|
NM_001367624.2(ZNF469):c.1687T>C (p.Phe563Leu)
|
|
|
NM_001367624.2(ZNF469):c.1691G>T (p.Gly564Val)
|
|
|
NM_001367624.2(ZNF469):c.1717C>A (p.His573Asn)
|
|
|
NM_001367624.2(ZNF469):c.1723A>C (p.Thr575Pro)
|
|
|
NM_001367624.2(ZNF469):c.1726C>A (p.Pro576Thr)
|
|
|
NM_001367624.2(ZNF469):c.1742C>T (p.Pro581Leu)
|
|
|
NM_001367624.2(ZNF469):c.1763C>G (p.Pro588Arg)
|
rs916979861
|
|
NM_001367624.2(ZNF469):c.1763C>T (p.Pro588Leu)
|
|
|
NM_001367624.2(ZNF469):c.1775C>T (p.Pro592Leu)
|
|
|
NM_001367624.2(ZNF469):c.1775_1776delinsGG (p.Pro592Arg)
|
|
|
NM_001367624.2(ZNF469):c.1823T>C (p.Leu608Pro)
|
|
|
NM_001367624.2(ZNF469):c.184G>A (p.Glu62Lys)
|
|
|
NM_001367624.2(ZNF469):c.1856G>A (p.Ser619Asn)
|
|
|
NM_001367624.2(ZNF469):c.185A>T (p.Glu62Val)
|
|
|
NM_001367624.2(ZNF469):c.1867A>G (p.Ser623Gly)
|
|
|
NM_001367624.2(ZNF469):c.1870C>G (p.Gln624Glu)
|
|
|
NM_001367624.2(ZNF469):c.1874T>G (p.Leu625Arg)
|
|
|
NM_001367624.2(ZNF469):c.1885C>T (p.Leu629Phe)
|
|
|
NM_001367624.2(ZNF469):c.1888G>A (p.Gly630Arg)
|
|
|
NM_001367624.2(ZNF469):c.1907A>C (p.His636Pro)
|
|
|
NM_001367624.2(ZNF469):c.191A>T (p.Gln64Leu)
|
|
|
NM_001367624.2(ZNF469):c.1927G>A (p.Glu643Lys)
|
|
|
NM_001367624.2(ZNF469):c.193C>A (p.Pro65Thr)
|
|
|
NM_001367624.2(ZNF469):c.1943T>G (p.Phe648Cys)
|
|
|
NM_001367624.2(ZNF469):c.1946C>A (p.Pro649Gln)
|
|
|
NM_001367624.2(ZNF469):c.1952C>T (p.Pro651Leu)
|
|
|
NM_001367624.2(ZNF469):c.1958C>A (p.Pro653His)
|
|
|
NM_001367624.2(ZNF469):c.1958C>T (p.Pro653Leu)
|
|
|
NM_001367624.2(ZNF469):c.198G>T (p.Arg66Ser)
|
|
|
NM_001367624.2(ZNF469):c.200A>G (p.Gln67Arg)
|
|
|
NM_001367624.2(ZNF469):c.2087A>G (p.Glu696Gly)
|
|
|
NM_001367624.2(ZNF469):c.2095C>T (p.Arg699Trp)
|
|
|
NM_001367624.2(ZNF469):c.2102G>A (p.Gly701Glu)
|
|
|
NM_001367624.2(ZNF469):c.2128C>T (p.Pro710Ser)
|
|
|
NM_001367624.2(ZNF469):c.2132C>T (p.Pro711Leu)
|
|
|
NM_001367624.2(ZNF469):c.2143CAC[1] (p.His716del)
|
rs1256206256
|
|
NM_001367624.2(ZNF469):c.2168G>A (p.Ser723Asn)
|
|
|
NM_001367624.2(ZNF469):c.2168G>T (p.Ser723Ile)
|
|
|
NM_001367624.2(ZNF469):c.2170C>G (p.Leu724Val)
|
|
|
NM_001367624.2(ZNF469):c.2209G>T (p.Asp737Tyr)
|
|
|
NM_001367624.2(ZNF469):c.2222G>A (p.Ser741Asn)
|
|
|
NM_001367624.2(ZNF469):c.223C>A (p.Pro75Thr)
|
|
|
NM_001367624.2(ZNF469):c.2242G>T (p.Ala748Ser)
|
|
|
NM_001367624.2(ZNF469):c.2266C>T (p.Leu756Phe)
|
|
|
NM_001367624.2(ZNF469):c.226C>G (p.Pro76Ala)
|
|
|
NM_001367624.2(ZNF469):c.2350G>C (p.Ala784Pro)
|
|
|
NM_001367624.2(ZNF469):c.2389T>C (p.Phe797Leu)
|
|
|
NM_001367624.2(ZNF469):c.2407G>A (p.Ala803Thr)
|
|
|
NM_001367624.2(ZNF469):c.2416G>C (p.Glu806Gln)
|
|
|
NM_001367624.2(ZNF469):c.2419G>A (p.Gly807Ser)
|
|
|
NM_001367624.2(ZNF469):c.2427C>A (p.Asp809Glu)
|
|
|
NM_001367624.2(ZNF469):c.2431C>T (p.Pro811Ser)
|
|
|
NM_001367624.2(ZNF469):c.2453C>G (p.Pro818Arg)
|
|
|
NM_001367624.2(ZNF469):c.2461G>A (p.Ala821Thr)
|
|
|
NM_001367624.2(ZNF469):c.2471C>A (p.Pro824His)
|
|
|
NM_001367624.2(ZNF469):c.2489C>G (p.Ser830Trp)
|
|
|
NM_001367624.2(ZNF469):c.2493C>A (p.Asp831Glu)
|
|
|
NM_001367624.2(ZNF469):c.2511C>G (p.Asp837Glu)
|
|
|
NM_001367624.2(ZNF469):c.2513C>G (p.Ala838Gly)
|
|
|
NM_001367624.2(ZNF469):c.2553G>A (p.Met851Ile)
|
|
|
NM_001367624.2(ZNF469):c.2561A>G (p.Gln854Arg)
|
|
|
NM_001367624.2(ZNF469):c.2569A>G (p.Asn857Asp)
|
rs1555518955
|
|
NM_001367624.2(ZNF469):c.2581G>C (p.Asp861His)
|
rs1342379077
|
|
NM_001367624.2(ZNF469):c.2587A>T (p.Ser863Cys)
|
|
|
NM_001367624.2(ZNF469):c.2617C>G (p.Pro873Ala)
|
|
|
NM_001367624.2(ZNF469):c.2632G>A (p.Gly878Ser)
|
|
|
NM_001367624.2(ZNF469):c.2639G>C (p.Ser880Thr)
|
|
|
NM_001367624.2(ZNF469):c.263G>A (p.Gly88Glu)
|
|
|
NM_001367624.2(ZNF469):c.2644G>A (p.Gly882Arg)
|
|
|
NM_001367624.2(ZNF469):c.2645G>A (p.Gly882Glu)
|
|
|
NM_001367624.2(ZNF469):c.2669G>C (p.Gly890Ala)
|
|
|
NM_001367624.2(ZNF469):c.2671G>A (p.Val891Met)
|
|
|
NM_001367624.2(ZNF469):c.2704C>G (p.Pro902Ala)
|
|
|
NM_001367624.2(ZNF469):c.2729C>T (p.Thr910Ile)
|
|
|
NM_001367624.2(ZNF469):c.272G>T (p.Gly91Val)
|
|
|
NM_001367624.2(ZNF469):c.2734C>A (p.Arg912Ser)
|
|
|
NM_001367624.2(ZNF469):c.2738C>T (p.Pro913Leu)
|
|
|
NM_001367624.2(ZNF469):c.2740G>A (p.Gly914Arg)
|
|
|
NM_001367624.2(ZNF469):c.2741G>A (p.Gly914Glu)
|
|
|
NM_001367624.2(ZNF469):c.2743G>A (p.Asp915Asn)
|
|
|
NM_001367624.2(ZNF469):c.2775A>T (p.Lys925Asn)
|
|
|
NM_001367624.2(ZNF469):c.2779C>A (p.Arg927Ser)
|
|
|
NM_001367624.2(ZNF469):c.2788G>C (p.Gly930Arg)
|
|
|
NM_001367624.2(ZNF469):c.2807C>T (p.Ala936Val)
|
|
|
NM_001367624.2(ZNF469):c.2809G>A (p.Asp937Asn)
|
|
|
NM_001367624.2(ZNF469):c.2837G>C (p.Arg946Thr)
|
|
|
NM_001367624.2(ZNF469):c.2849A>T (p.Gln950Leu)
|
|
|
NM_001367624.2(ZNF469):c.2854A>C (p.Lys952Gln)
|
|
|
NM_001367624.2(ZNF469):c.2885G>A (p.Gly962Asp)
|
|
|
NM_001367624.2(ZNF469):c.2891C>T (p.Ala964Val)
|
rs2142302650
|
|
NM_001367624.2(ZNF469):c.2894A>G (p.Glu965Gly)
|
|
|
NM_001367624.2(ZNF469):c.2898GTCGGG[1] (p.967SG[1])
|
rs281865147
|
|
NM_001367624.2(ZNF469):c.2899T>G (p.Ser967Ala)
|
|
|
NM_001367624.2(ZNF469):c.2911G>A (p.Gly971Ser)
|
|
|
NM_001367624.2(ZNF469):c.2914G>A (p.Gly972Ser)
|
|
|
NM_001367624.2(ZNF469):c.2924C>T (p.Ala975Val)
|
|
|
NM_001367624.2(ZNF469):c.2938C>T (p.Pro980Ser)
|
|
|
NM_001367624.2(ZNF469):c.2948ACG[1] (p.Asp984del)
|
rs886052397
|
|
NM_001367624.2(ZNF469):c.2972_2973delinsGT (p.Pro991Arg)
|
|
|
NM_001367624.2(ZNF469):c.2978G>C (p.Arg993Pro)
|
|
|
NM_001367624.2(ZNF469):c.2983C>T (p.Arg995Trp)
|
|
|
NM_001367624.2(ZNF469):c.3002C>A (p.Ala1001Asp)
|
|
|
NM_001367624.2(ZNF469):c.3002C>T (p.Ala1001Val)
|
rs1045848516
|
|
NM_001367624.2(ZNF469):c.3007G>A (p.Gly1003Arg)
|
|
|
NM_001367624.2(ZNF469):c.3046G>T (p.Ala1016Ser)
|
|
|
NM_001367624.2(ZNF469):c.3049G>A (p.Ala1017Thr)
|
|
|
NM_001367624.2(ZNF469):c.3063G>C (p.Glu1021Asp)
|
|
|
NM_001367624.2(ZNF469):c.3067C>A (p.Arg1023Ser)
|
|
|
NM_001367624.2(ZNF469):c.3067C>T (p.Arg1023Cys)
|
|
|
NM_001367624.2(ZNF469):c.3077G>C (p.Arg1026Pro)
|
|
|
NM_001367624.2(ZNF469):c.3092C>T (p.Pro1031Leu)
|
|
|
NM_001367624.2(ZNF469):c.3097A>G (p.Arg1033Gly)
|
|
|
NM_001367624.2(ZNF469):c.3103G>A (p.Asp1035Asn)
|
|
|
NM_001367624.2(ZNF469):c.3109A>G (p.Arg1037Gly)
|
|
|
NM_001367624.2(ZNF469):c.3110G>T (p.Arg1037Met)
|
|
|
NM_001367624.2(ZNF469):c.3122C>G (p.Ala1041Gly)
|
|
|
NM_001367624.2(ZNF469):c.3124C>T (p.Arg1042Trp)
|
|
|
NM_001367624.2(ZNF469):c.3131G>A (p.Gly1044Asp)
|
|
|
NM_001367624.2(ZNF469):c.3147G>C (p.Glu1049Asp)
|
|
|
NM_001367624.2(ZNF469):c.3164T>G (p.Val1055Gly)
|
|
|
NM_001367624.2(ZNF469):c.3172A>C (p.Lys1058Gln)
|
|
|
NM_001367624.2(ZNF469):c.3177C>G (p.Asn1059Lys)
|
|
|
NM_001367624.2(ZNF469):c.3183C>A (p.Arg1061=)
|
|
|
NM_001367624.2(ZNF469):c.3283G>A (p.Ala1095Thr)
|
rs933945553
|
|
NM_001367624.2(ZNF469):c.3298_3306del (p.Glu1100_Glu1102del)
|
|
|
NM_001367624.2(ZNF469):c.3300G>C (p.Glu1100Asp)
|
|
|
NM_001367624.2(ZNF469):c.3343C>T (p.Arg1115Trp)
|
|
|
NM_001367624.2(ZNF469):c.3362G>A (p.Arg1121Lys)
|
|
|
NM_001367624.2(ZNF469):c.3379A>T (p.Thr1127Ser)
|
|
|
NM_001367624.2(ZNF469):c.3412C>T (p.Pro1138Ser)
|
|
|
NM_001367624.2(ZNF469):c.3421G>T (p.Ala1141Ser)
|
|
|
NM_001367624.2(ZNF469):c.3439G>A (p.Gly1147Ser)
|
|
|
NM_001367624.2(ZNF469):c.3442G>C (p.Gly1148Arg)
|
|
|
NM_001367624.2(ZNF469):c.3447C>A (p.Asp1149Glu)
|
|
|
NM_001367624.2(ZNF469):c.3471G>C (p.Glu1157Asp)
|
|
|
NM_001367624.2(ZNF469):c.3476G>A (p.Gly1159Asp)
|
|
|
NM_001367624.2(ZNF469):c.3488C>T (p.Pro1163Leu)
|
|
|
NM_001367624.2(ZNF469):c.3490G>A (p.Gly1164Ser)
|
|
|
NM_001367624.2(ZNF469):c.3496G>A (p.Gly1166Ser)
|
|
|
NM_001367624.2(ZNF469):c.3539C>T (p.Thr1180Met)
|
|
|
NM_001367624.2(ZNF469):c.3554G>C (p.Arg1185Thr)
|
|
|
NM_001367624.2(ZNF469):c.3581G>A (p.Arg1194His)
|
|
|
NM_001367624.2(ZNF469):c.3583C>G (p.Pro1195Ala)
|
|
|
NM_001367624.2(ZNF469):c.3584C>T (p.Pro1195Leu)
|
|
|
NM_001367624.2(ZNF469):c.3601G>A (p.Asp1201Asn)
|
|
|
NM_001367624.2(ZNF469):c.3605C>A (p.Pro1202His)
|
rs1474024240
|
|
NM_001367624.2(ZNF469):c.3611A>G (p.Gln1204Arg)
|
rs1597208940
|
|
NM_001367624.2(ZNF469):c.3613G>C (p.Val1205Leu)
|
|
|
NM_001367624.2(ZNF469):c.3613G>T (p.Val1205Phe)
|
|
|
NM_001367624.2(ZNF469):c.3641A>C (p.Glu1214Ala)
|
|
|
NM_001367624.2(ZNF469):c.3665C>T (p.Pro1222Leu)
|
|
|
NM_001367624.2(ZNF469):c.3667C>G (p.Gln1223Glu)
|
|
|
NM_001367624.2(ZNF469):c.3698A>G (p.Glu1233Gly)
|
|
|
NM_001367624.2(ZNF469):c.3706C>T (p.Pro1236Ser)
|
|
|
NM_001367624.2(ZNF469):c.3716C>G (p.Thr1239Arg)
|
|
|
NM_001367624.2(ZNF469):c.3755G>A (p.Cys1252Tyr)
|
|
|
NM_001367624.2(ZNF469):c.3769G>C (p.Gly1257Arg)
|
|
|
NM_001367624.2(ZNF469):c.380C>T (p.Ser127Leu)
|
|
|
NM_001367624.2(ZNF469):c.3854C>T (p.Ala1285Val)
|
|
|
NM_001367624.2(ZNF469):c.3856A>G (p.Asn1286Asp)
|
|
|
NM_001367624.2(ZNF469):c.3859A>G (p.Thr1287Ala)
|
|
|
NM_001367624.2(ZNF469):c.3887C>T (p.Pro1296Leu)
|
|
|
NM_001367624.2(ZNF469):c.3911G>A (p.Gly1304Asp)
|
|
|
NM_001367624.2(ZNF469):c.3920G>A (p.Gly1307Asp)
|
|
|
NM_001367624.2(ZNF469):c.3979T>C (p.Phe1327Leu)
|
|
|
NM_001367624.2(ZNF469):c.3985G>A (p.Ala1329Thr)
|
|
|
NM_001367624.2(ZNF469):c.3989C>T (p.Pro1330Leu)
|
|
|
NM_001367624.2(ZNF469):c.404A>G (p.Glu135Gly)
|
|
|
NM_001367624.2(ZNF469):c.4067C>A (p.Pro1356His)
|
|
|
NM_001367624.2(ZNF469):c.4096G>A (p.Val1366Ile)
|
|
|
NM_001367624.2(ZNF469):c.4102G>C (p.Val1368Leu)
|
|
|
NM_001367624.2(ZNF469):c.4114G>A (p.Gly1372Arg)
|
|
|
NM_001367624.2(ZNF469):c.4138C>T (p.His1380Tyr)
|
|
|
NM_001367624.2(ZNF469):c.4156G>A (p.Gly1386Arg)
|
|
|
NM_001367624.2(ZNF469):c.4202A>C (p.Lys1401Thr)
|
|
|
NM_001367624.2(ZNF469):c.4235G>C (p.Ser1412Thr)
|
|
|
NM_001367624.2(ZNF469):c.4240T>C (p.Cys1414Arg)
|
|
|
NM_001367624.2(ZNF469):c.4256G>A (p.Gly1419Asp)
|
|
|
NM_001367624.2(ZNF469):c.4276G>C (p.Glu1426Gln)
|
|
|
NM_001367624.2(ZNF469):c.4286T>A (p.Leu1429Gln)
|
|
|
NM_001367624.2(ZNF469):c.4292G>C (p.Arg1431Thr)
|
|
|
NM_001367624.2(ZNF469):c.4309G>A (p.Ala1437Thr)
|
|
|
NM_001367624.2(ZNF469):c.4310C>A (p.Ala1437Asp)
|
|
|
NM_001367624.2(ZNF469):c.4361C>T (p.Ser1454Phe)
|
|
|
NM_001367624.2(ZNF469):c.4379C>T (p.Pro1460Leu)
|
|
|
NM_001367624.2(ZNF469):c.4384G>A (p.Asp1462Asn)
|
|
|
NM_001367624.2(ZNF469):c.4393G>A (p.Asp1465Asn)
|
|
|
NM_001367624.2(ZNF469):c.4393G>T (p.Asp1465Tyr)
|
|
|
NM_001367624.2(ZNF469):c.4408G>T (p.Gly1470Cys)
|
|
|
NM_001367624.2(ZNF469):c.4418C>T (p.Ser1473Phe)
|
|
|
NM_001367624.2(ZNF469):c.4435G>A (p.Gly1479Ser)
|
|
|
NM_001367624.2(ZNF469):c.4442C>T (p.Pro1481Leu)
|
|
|
NM_001367624.2(ZNF469):c.4458C>A (p.Asp1486Glu)
|
|
|
NM_001367624.2(ZNF469):c.4478C>T (p.Pro1493Leu)
|
|
|
NM_001367624.2(ZNF469):c.448G>A (p.Val150Met)
|
|
|
NM_001367624.2(ZNF469):c.4525C>A (p.Pro1509Thr)
|
|
|
NM_001367624.2(ZNF469):c.455C>T (p.Thr152Ile)
|
|
|
NM_001367624.2(ZNF469):c.4570C>G (p.Leu1524Val)
|
|
|
NM_001367624.2(ZNF469):c.4577A>G (p.Lys1526Arg)
|
|
|
NM_001367624.2(ZNF469):c.4580C>T (p.Thr1527Met)
|
|
|
NM_001367624.2(ZNF469):c.4589C>T (p.Pro1530Leu)
|
|
|
NM_001367624.2(ZNF469):c.4594C>T (p.Arg1532Trp)
|
|
|
NM_001367624.2(ZNF469):c.4730G>A (p.Arg1577Lys)
|
|
|
NM_001367624.2(ZNF469):c.4731G>C (p.Arg1577Ser)
|
rs1906243073
|
|
NM_001367624.2(ZNF469):c.4744C>G (p.Arg1582Gly)
|
|
|
NM_001367624.2(ZNF469):c.4745G>T (p.Arg1582Leu)
|
|
|
NM_001367624.2(ZNF469):c.475G>A (p.Gly159Arg)
|
|
|
NM_001367624.2(ZNF469):c.4761G>C (p.Glu1587Asp)
|
|
|
NM_001367624.2(ZNF469):c.476G>A (p.Gly159Glu)
|
|
|
NM_001367624.2(ZNF469):c.4813C>T (p.Pro1605Ser)
|
|
|
NM_001367624.2(ZNF469):c.4817C>T (p.Pro1606Leu)
|
|
|
NM_001367624.2(ZNF469):c.482C>T (p.Pro161Leu)
|
|
|
NM_001367624.2(ZNF469):c.4862C>T (p.Thr1621Met)
|
|
|
NM_001367624.2(ZNF469):c.4886G>A (p.Arg1629His)
|
|
|
NM_001367624.2(ZNF469):c.4888G>A (p.Val1630Ile)
|
|
|
NM_001367624.2(ZNF469):c.4888G>T (p.Val1630Phe)
|
|
|
NM_001367624.2(ZNF469):c.4900A>G (p.Thr1634Ala)
|
|
|
NM_001367624.2(ZNF469):c.4925C>T (p.Ser1642Leu)
|
|
|
NM_001367624.2(ZNF469):c.4939G>A (p.Val1647Met)
|
|
|
NM_001367624.2(ZNF469):c.4955G>A (p.Gly1652Glu)
|
|
|
NM_001367624.2(ZNF469):c.4958G>A (p.Arg1653Lys)
|
|
|
NM_001367624.2(ZNF469):c.4994A>G (p.His1665Arg)
|
|
|
NM_001367624.2(ZNF469):c.4997C>T (p.Pro1666Leu)
|
|
|
NM_001367624.2(ZNF469):c.49G>A (p.Asp17Asn)
|
|
|
NM_001367624.2(ZNF469):c.5002C>T (p.His1668Tyr)
|
|
|
NM_001367624.2(ZNF469):c.5021G>A (p.Cys1674Tyr)
|
|
|
NM_001367624.2(ZNF469):c.5027A>C (p.Gln1676Pro)
|
|
|
NM_001367624.2(ZNF469):c.5062A>G (p.Arg1688Gly)
|
|
|
NM_001367624.2(ZNF469):c.5105C>G (p.Ala1702Gly)
|
|
|
NM_001367624.2(ZNF469):c.5108C>G (p.Ser1703Cys)
|
|
|
NM_001367624.2(ZNF469):c.5126A>T (p.Gln1709Leu)
|
|
|
NM_001367624.2(ZNF469):c.5150C>T (p.Pro1717Leu)
|
|
|
NM_001367624.2(ZNF469):c.5165T>C (p.Leu1722Pro)
|
|
|
NM_001367624.2(ZNF469):c.524C>T (p.Ala175Val)
|
|
|
NM_001367624.2(ZNF469):c.5251A>G (p.Lys1751Glu)
|
|
|
NM_001367624.2(ZNF469):c.5287G>T (p.Asp1763Tyr)
|
|
|
NM_001367624.2(ZNF469):c.5324G>T (p.Gly1775Val)
|
|
|
NM_001367624.2(ZNF469):c.5342G>T (p.Gly1781Val)
|
|
|
NM_001367624.2(ZNF469):c.5345C>T (p.Thr1782Ile)
|
|
|
NM_001367624.2(ZNF469):c.5384C>G (p.Ala1795Gly)
|
rs1013562167
|
|
NM_001367624.2(ZNF469):c.5392A>G (p.Ser1798Gly)
|
|
|
NM_001367624.2(ZNF469):c.5396C>T (p.Pro1799Leu)
|
|
|
NM_001367624.2(ZNF469):c.545G>A (p.Arg182Lys)
|
|
|
NM_001367624.2(ZNF469):c.5464C>A (p.Pro1822Thr)
|
|
|
NM_001367624.2(ZNF469):c.5500C>A (p.His1834Asn)
|
|
|
NM_001367624.2(ZNF469):c.5534C>T (p.Pro1845Leu)
|
|
|
NM_001367624.2(ZNF469):c.5539G>A (p.Ala1847Thr)
|
|
|
NM_001367624.2(ZNF469):c.5540C>T (p.Ala1847Val)
|
|
|
NM_001367624.2(ZNF469):c.5546G>T (p.Arg1849Met)
|
|
|
NM_001367624.2(ZNF469):c.5558A>G (p.Glu1853Gly)
|
|
|
NM_001367624.2(ZNF469):c.5584G>T (p.Ala1862Ser)
|
|
|
NM_001367624.2(ZNF469):c.559C>G (p.Pro187Ala)
|
|
|
NM_001367624.2(ZNF469):c.5609G>A (p.Gly1870Asp)
|
|
|
NM_001367624.2(ZNF469):c.5617G>A (p.Ala1873Thr)
|
|
|
NM_001367624.2(ZNF469):c.5660C>T (p.Thr1887Ile)
|
|
|
NM_001367624.2(ZNF469):c.5666C>T (p.Pro1889Leu)
|
|
|
NM_001367624.2(ZNF469):c.5690C>G (p.Ala1897Gly)
|
|
|
NM_001367624.2(ZNF469):c.5698C>G (p.Pro1900Ala)
|
rs754730500
|
|
NM_001367624.2(ZNF469):c.5698C>T (p.Pro1900Ser)
|
rs754730500
|
|
NM_001367624.2(ZNF469):c.5702C>G (p.Pro1901Arg)
|
|
|
NM_001367624.2(ZNF469):c.5705T>C (p.Ile1902Thr)
|
|
|
NM_001367624.2(ZNF469):c.570C>G (p.Ser190Arg)
|
|
|
NM_001367624.2(ZNF469):c.572T>C (p.Phe191Ser)
|
|
|
NM_001367624.2(ZNF469):c.5744G>A (p.Ser1915Asn)
|
|
|
NM_001367624.2(ZNF469):c.5749G>T (p.Asp1917Tyr)
|
|
|
NM_001367624.2(ZNF469):c.575C>T (p.Thr192Ile)
|
|
|
NM_001367624.2(ZNF469):c.5761G>A (p.Gly1921Ser)
|
|
|
NM_001367624.2(ZNF469):c.5770G>A (p.Glu1924Lys)
|
|
|
NM_001367624.2(ZNF469):c.5774T>G (p.Leu1925Arg)
|
|
|
NM_001367624.2(ZNF469):c.5779C>G (p.Pro1927Ala)
|
|
|
NM_001367624.2(ZNF469):c.577T>A (p.Ser193Thr)
|
|
|
NM_001367624.2(ZNF469):c.577_578delinsAA (p.Ser193Asn)
|
|
|
NM_001367624.2(ZNF469):c.5798C>T (p.Pro1933Leu)
|
|
|
NM_001367624.2(ZNF469):c.5807A>G (p.Asn1936Ser)
|
|
|
NM_001367624.2(ZNF469):c.584A>C (p.Asn195Thr)
|
|
|
NM_001367624.2(ZNF469):c.5855G>A (p.Cys1952Tyr)
|
|
|
NM_001367624.2(ZNF469):c.5857G>C (p.Gly1953Arg)
|
|
|
NM_001367624.2(ZNF469):c.586T>G (p.Tyr196Asp)
|
|
|
NM_001367624.2(ZNF469):c.5878G>T (p.Gly1960Trp)
|
|
|
NM_001367624.2(ZNF469):c.5882G>T (p.Gly1961Val)
|
|
|
NM_001367624.2(ZNF469):c.5891T>G (p.Val1964Gly)
|
|
|
NM_001367624.2(ZNF469):c.5906C>T (p.Ala1969Val)
|
|
|
NM_001367624.2(ZNF469):c.5912C>T (p.Ala1971Val)
|
rs886052406
|
|
NM_001367624.2(ZNF469):c.5926G>T (p.Gly1976Trp)
|
|
|
NM_001367624.2(ZNF469):c.5955G>C (p.Leu1985Phe)
|
|
|
NM_001367624.2(ZNF469):c.5C>T (p.Pro2Leu)
|
|
|
NM_001367624.2(ZNF469):c.6014A>G (p.Asn2005Ser)
|
|
|
NM_001367624.2(ZNF469):c.6015C>A (p.Asn2005Lys)
|
|
|
NM_001367624.2(ZNF469):c.6019G>A (p.Val2007Met)
|
|
|
NM_001367624.2(ZNF469):c.602C>T (p.Ala201Val)
|
|
|
NM_001367624.2(ZNF469):c.6035C>T (p.Thr2012Met)
|
|
|
NM_001367624.2(ZNF469):c.6039C>A (p.Asp2013Glu)
|
|
|
NM_001367624.2(ZNF469):c.6047C>T (p.Ala2016Val)
|
|
|
NM_001367624.2(ZNF469):c.604A>C (p.Thr202Pro)
|
|
|
NM_001367624.2(ZNF469):c.6059C>G (p.Ala2020Gly)
|
|
|
NM_001367624.2(ZNF469):c.6100G>A (p.Val2034Ile)
|
|
|
NM_001367624.2(ZNF469):c.6115T>G (p.Cys2039Gly)
|
|
|
NM_001367624.2(ZNF469):c.6157G>A (p.Glu2053Lys)
|
|
|
NM_001367624.2(ZNF469):c.6163A>C (p.Thr2055Pro)
|
|
|
NM_001367624.2(ZNF469):c.6171C>A (p.Ser2057Arg)
|
|
|
NM_001367624.2(ZNF469):c.6178T>G (p.Ser2060Ala)
|
|
|
NM_001367624.2(ZNF469):c.6214G>A (p.Ala2072Thr)
|
|
|
NM_001367624.2(ZNF469):c.6272G>T (p.Gly2091Val)
|
|
|
NM_001367624.2(ZNF469):c.6274C>G (p.Leu2092Val)
|
|
|
NM_001367624.2(ZNF469):c.6283C>T (p.Pro2095Ser)
|
|
|
NM_001367624.2(ZNF469):c.6301G>A (p.Asp2101Asn)
|
|
|
NM_001367624.2(ZNF469):c.6314C>T (p.Pro2105Leu)
|
|
|
NM_001367624.2(ZNF469):c.6339C>G (p.Cys2113Trp)
|
|
|
NM_001367624.2(ZNF469):c.634C>A (p.Gln212Lys)
|
|
|
NM_001367624.2(ZNF469):c.637A>C (p.Ser213Arg)
|
|
|
NM_001367624.2(ZNF469):c.6398A>G (p.Glu2133Gly)
|
|
|
NM_001367624.2(ZNF469):c.6425C>T (p.Ala2142Val)
|
|
|
NM_001367624.2(ZNF469):c.6431G>A (p.Gly2144Asp)
|
|
|
NM_001367624.2(ZNF469):c.6436_6441dup (p.Gly2147_Gly2148insLeuGly)
|
rs903153275
|
|
NM_001367624.2(ZNF469):c.6452C>T (p.Pro2151Leu)
|
|
|
NM_001367624.2(ZNF469):c.646A>C (p.Thr216Pro)
|
|
|
NM_001367624.2(ZNF469):c.6503G>A (p.Cys2168Tyr)
|
|
|
NM_001367624.2(ZNF469):c.6541G>A (p.Val2181Ile)
|
|
|
NM_001367624.2(ZNF469):c.6551C>T (p.Thr2184Met)
|
|
|
NM_001367624.2(ZNF469):c.6566C>T (p.Ala2189Val)
|
|
|
NM_001367624.2(ZNF469):c.6570_6572del (p.Glu2190del)
|
|
|
NM_001367624.2(ZNF469):c.6583G>T (p.Ala2195Ser)
|
|
|
NM_001367624.2(ZNF469):c.6587C>G (p.Pro2196Arg)
|
|
|
NM_001367624.2(ZNF469):c.6613G>A (p.Asp2205Asn)
|
|
|
NM_001367624.2(ZNF469):c.6613G>C (p.Asp2205His)
|
|
|
NM_001367624.2(ZNF469):c.6616C>G (p.Pro2206Ala)
|
|
|
NM_001367624.2(ZNF469):c.6616C>T (p.Pro2206Ser)
|
|
|
NM_001367624.2(ZNF469):c.6629T>G (p.Leu2210Arg)
|
|
|
NM_001367624.2(ZNF469):c.6632C>T (p.Ala2211Val)
|
|
|
NM_001367624.2(ZNF469):c.6671A>T (p.Asp2224Val)
|
|
|
NM_001367624.2(ZNF469):c.6673C>A (p.Pro2225Thr)
|
|
|
NM_001367624.2(ZNF469):c.6676T>G (p.Ser2226Ala)
|
|
|
NM_001367624.2(ZNF469):c.6688C>A (p.Pro2230Thr)
|
|
|
NM_001367624.2(ZNF469):c.6698T>C (p.Val2233Ala)
|
|
|
NM_001367624.2(ZNF469):c.6703G>A (p.Ala2235Thr)
|
|
|
NM_001367624.2(ZNF469):c.6710C>T (p.Thr2237Ile)
|
|
|
NM_001367624.2(ZNF469):c.6733C>A (p.Pro2245Thr)
|
|
|
NM_001367624.2(ZNF469):c.6739G>A (p.Asp2247Asn)
|
rs371739743
|
|
NM_001367624.2(ZNF469):c.673C>G (p.Pro225Ala)
|
|
|
NM_001367624.2(ZNF469):c.6748T>G (p.Leu2250Val)
|
|
|
NM_001367624.2(ZNF469):c.6750A>C (p.Leu2250Phe)
|
|
|
NM_001367624.2(ZNF469):c.6761A>G (p.Glu2254Gly)
|
|
|
NM_001367624.2(ZNF469):c.6762G>T (p.Glu2254Asp)
|
|
|
NM_001367624.2(ZNF469):c.6763G>T (p.Asp2255Tyr)
|
|
|
NM_001367624.2(ZNF469):c.677A>C (p.Glu226Ala)
|
|
|
NM_001367624.2(ZNF469):c.6853G>T (p.Ala2285Ser)
|
|
|
NM_001367624.2(ZNF469):c.6857C>T (p.Thr2286Ile)
|
|
|
NM_001367624.2(ZNF469):c.6863T>C (p.Leu2288Pro)
|
|
|
NM_001367624.2(ZNF469):c.6888G>T (p.Glu2296Asp)
|
|
|
NM_001367624.2(ZNF469):c.6892C>A (p.Gln2298Lys)
|
|
|
NM_001367624.2(ZNF469):c.6925C>G (p.Gln2309Glu)
|
|
|
NM_001367624.2(ZNF469):c.6974G>A (p.Gly2325Asp)
|
|
|
NM_001367624.2(ZNF469):c.6978CTC[1] (p.Ser2328del)
|
rs1215843229
|
|
NM_001367624.2(ZNF469):c.7036A>G (p.Thr2346Ala)
|
|
|
NM_001367624.2(ZNF469):c.7054C>G (p.Pro2352Ala)
|
|
|
NM_001367624.2(ZNF469):c.7069G>A (p.Gly2357Ser)
|
|
|
NM_001367624.2(ZNF469):c.709C>T (p.Pro237Ser)
|
|
|
NM_001367624.2(ZNF469):c.7110G>A (p.Met2370Ile)
|
|
|
NM_001367624.2(ZNF469):c.7117A>G (p.Ser2373Gly)
|
|
|
NM_001367624.2(ZNF469):c.7121G>A (p.Ser2374Asn)
|
|
|
NM_001367624.2(ZNF469):c.713C>T (p.Ala238Val)
|
|
|
NM_001367624.2(ZNF469):c.7183A>G (p.Arg2395Gly)
|
|
|
NM_001367624.2(ZNF469):c.7204G>C (p.Gly2402Arg)
|
|
|
NM_001367624.2(ZNF469):c.7215G>C (p.Leu2405Phe)
|
|
|
NM_001367624.2(ZNF469):c.7234A>C (p.Ser2412Arg)
|
|
|
NM_001367624.2(ZNF469):c.7241C>T (p.Thr2414Ile)
|
|
|
NM_001367624.2(ZNF469):c.7267C>T (p.Pro2423Ser)
|
|
|
NM_001367624.2(ZNF469):c.7268C>G (p.Pro2423Arg)
|
|
|
NM_001367624.2(ZNF469):c.7268C>T (p.Pro2423Leu)
|
|
|
NM_001367624.2(ZNF469):c.7276C>T (p.His2426Tyr)
|
|
|
NM_001367624.2(ZNF469):c.7301C>T (p.Pro2434Leu)
|
|
|
NM_001367624.2(ZNF469):c.730C>T (p.Pro244Ser)
|
|
|
NM_001367624.2(ZNF469):c.7316T>C (p.Leu2439Pro)
|
|
|
NM_001367624.2(ZNF469):c.7327G>C (p.Asp2443His)
|
|
|
NM_001367624.2(ZNF469):c.7338G>C (p.Gln2446His)
|
|
|
NM_001367624.2(ZNF469):c.7346G>T (p.Arg2449Leu)
|
|
|
NM_001367624.2(ZNF469):c.7349G>A (p.Gly2450Asp)
|
|
|
NM_001367624.2(ZNF469):c.7370C>A (p.Ser2457Tyr)
|
|
|
NM_001367624.2(ZNF469):c.7423G>A (p.Glu2475Lys)
|
|
|
NM_001367624.2(ZNF469):c.7426G>A (p.Val2476Ile)
|
|
|
NM_001367624.2(ZNF469):c.7478G>A (p.Arg2493Lys)
|
|
|
NM_001367624.2(ZNF469):c.7486C>T (p.Arg2496Trp)
|
|
|
NM_001367624.2(ZNF469):c.7501G>C (p.Ala2501Pro)
|
|
|
NM_001367624.2(ZNF469):c.7502C>T (p.Ala2501Val)
|
|
|
NM_001367624.2(ZNF469):c.7544C>T (p.Pro2515Leu)
|
|
|
NM_001367624.2(ZNF469):c.7589G>C (p.Ser2530Thr)
|
|
|
NM_001367624.2(ZNF469):c.7596G>C (p.Arg2532Ser)
|
|
|
NM_001367624.2(ZNF469):c.7615C>T (p.Pro2539Ser)
|
|
|
NM_001367624.2(ZNF469):c.7620T>G (p.Asn2540Lys)
|
|
|
NM_001367624.2(ZNF469):c.7628G>A (p.Arg2543Gln)
|
rs771550262
|
|
NM_001367624.2(ZNF469):c.763C>T (p.Pro255Ser)
|
|
|
NM_001367624.2(ZNF469):c.764C>T (p.Pro255Leu)
|
|
|
NM_001367624.2(ZNF469):c.7657C>T (p.Pro2553Ser)
|
|
|
NM_001367624.2(ZNF469):c.7685T>G (p.Leu2562Arg)
|
|
|
NM_001367624.2(ZNF469):c.7705C>A (p.His2569Asn)
|
|
|
NM_001367624.2(ZNF469):c.772A>G (p.Ile258Val)
|
|
|
NM_001367624.2(ZNF469):c.776C>T (p.Pro259Leu)
|
|
|
NM_001367624.2(ZNF469):c.7790C>A (p.Ala2597Asp)
|
|
|
NM_001367624.2(ZNF469):c.7837C>G (p.Arg2613Gly)
|
|
|
NM_001367624.2(ZNF469):c.7864G>A (p.Asp2622Asn)
|
|
|
NM_001367624.2(ZNF469):c.7867_7868delinsAA (p.Ser2623Asn)
|
|
|
NM_001367624.2(ZNF469):c.7885G>A (p.Gly2629Arg)
|
|
|
NM_001367624.2(ZNF469):c.7897A>G (p.Lys2633Glu)
|
|
|
NM_001367624.2(ZNF469):c.790C>A (p.Pro264Thr)
|
rs1905842865
|
|
NM_001367624.2(ZNF469):c.7931G>T (p.Arg2644Leu)
|
rs281865152
|
|
NM_001367624.2(ZNF469):c.7936G>C (p.Glu2646Gln)
|
rs1413197098
|
|
NM_001367624.2(ZNF469):c.7943T>C (p.Ile2648Thr)
|
|
|
NM_001367624.2(ZNF469):c.7976G>A (p.Gly2659Glu)
|
|
|
NM_001367624.2(ZNF469):c.7976G>C (p.Gly2659Ala)
|
|
|
NM_001367624.2(ZNF469):c.7976G>T (p.Gly2659Val)
|
|
|
NM_001367624.2(ZNF469):c.7993T>A (p.Ser2665Thr)
|
|
|
NM_001367624.2(ZNF469):c.8000C>T (p.Ala2667Val)
|
|
|
NM_001367624.2(ZNF469):c.8014G>A (p.Ala2672Thr)
|
|
|
NM_001367624.2(ZNF469):c.8021C>T (p.Ser2674Phe)
|
|
|
NM_001367624.2(ZNF469):c.8080C>G (p.Arg2694Gly)
|
|
|
NM_001367624.2(ZNF469):c.8081G>C (p.Arg2694Pro)
|
rs889719149
|
|
NM_001367624.2(ZNF469):c.8081G>T (p.Arg2694Leu)
|
|
|
NM_001367624.2(ZNF469):c.8089A>G (p.Thr2697Ala)
|
|
|
NM_001367624.2(ZNF469):c.8098C>G (p.Pro2700Ala)
|
|
|
NM_001367624.2(ZNF469):c.812T>A (p.Val271Asp)
|
|
|
NM_001367624.2(ZNF469):c.8133G>C (p.Gln2711His)
|
|
|
NM_001367624.2(ZNF469):c.8149G>C (p.Gly2717Arg)
|
|
|
NM_001367624.2(ZNF469):c.8206G>A (p.Asp2736Asn)
|
|
|
NM_001367624.2(ZNF469):c.8219T>G (p.Leu2740Arg)
|
|
|
NM_001367624.2(ZNF469):c.8221G>A (p.Gly2741Arg)
|
|
|
NM_001367624.2(ZNF469):c.8222G>A (p.Gly2741Glu)
|
|
|
NM_001367624.2(ZNF469):c.8224G>A (p.Glu2742Lys)
|
|
|
NM_001367624.2(ZNF469):c.826C>G (p.Pro276Ala)
|
|
|
NM_001367624.2(ZNF469):c.8279A>G (p.Glu2760Gly)
|
|
|
NM_001367624.2(ZNF469):c.8285A>T (p.Lys2762Met)
|
|
|
NM_001367624.2(ZNF469):c.8302A>G (p.Lys2768Glu)
|
|
|
NM_001367624.2(ZNF469):c.8314A>T (p.Ser2772Cys)
|
|
|
NM_001367624.2(ZNF469):c.8317G>A (p.Glu2773Lys)
|
|
|
NM_001367624.2(ZNF469):c.8351G>A (p.Arg2784Gln)
|
|
|
NM_001367624.2(ZNF469):c.8366T>C (p.Val2789Ala)
|
|
|
NM_001367624.2(ZNF469):c.8378A>C (p.Asn2793Thr)
|
|
|
NM_001367624.2(ZNF469):c.844G>A (p.Gly282Arg)
|
|
|
NM_001367624.2(ZNF469):c.8471A>T (p.Asn2824Ile)
|
|
|
NM_001367624.2(ZNF469):c.847G>C (p.Ala283Pro)
|
|
|
NM_001367624.2(ZNF469):c.8488G>A (p.Gly2830Arg)
|
|
|
NM_001367624.2(ZNF469):c.8495A>C (p.Gln2832Pro)
|
|
|
NM_001367624.2(ZNF469):c.8501C>T (p.Pro2834Leu)
|
|
|
NM_001367624.2(ZNF469):c.8504A>G (p.Glu2835Gly)
|
|
|
NM_001367624.2(ZNF469):c.8531C>G (p.Ser2844Cys)
|
|
|
NM_001367624.2(ZNF469):c.8534G>T (p.Ser2845Ile)
|
|
|
NM_001367624.2(ZNF469):c.8546C>A (p.Pro2849His)
|
|
|
NM_001367624.2(ZNF469):c.8568G>T (p.Glu2856Asp)
|
|
|
NM_001367624.2(ZNF469):c.8573C>T (p.Ser2858Phe)
|
rs975435621
|
|
NM_001367624.2(ZNF469):c.8579C>T (p.Ser2860Phe)
|
|
|
NM_001367624.2(ZNF469):c.8599G>T (p.Gly2867Cys)
|
|
|
NM_001367624.2(ZNF469):c.8629G>T (p.Val2877Phe)
|
|
|
NM_001367624.2(ZNF469):c.8635G>C (p.Gly2879Arg)
|
|
|
NM_001367624.2(ZNF469):c.8635G>T (p.Gly2879Trp)
|
|
|
NM_001367624.2(ZNF469):c.8642G>T (p.Arg2881Leu)
|
rs142753357
|
|
NM_001367624.2(ZNF469):c.8682C>A (p.Ser2894Arg)
|
|
|
NM_001367624.2(ZNF469):c.8711G>A (p.Gly2904Asp)
|
|
|
NM_001367624.2(ZNF469):c.8719C>T (p.Arg2907Cys)
|
|
|
NM_001367624.2(ZNF469):c.8774C>A (p.Pro2925Gln)
|
|
|
NM_001367624.2(ZNF469):c.8776T>C (p.Trp2926Arg)
|
|
|
NM_001367624.2(ZNF469):c.8792C>G (p.Pro2931Arg)
|
|
|
NM_001367624.2(ZNF469):c.8795C>A (p.Ala2932Glu)
|
|
|
NM_001367624.2(ZNF469):c.8795_8796delinsAT (p.Ala2932Asp)
|
rs2142312990
|
|
NM_001367624.2(ZNF469):c.8798G>A (p.Gly2933Asp)
|
|
|
NM_001367624.2(ZNF469):c.8803C>T (p.Pro2935Ser)
|
|
|
NM_001367624.2(ZNF469):c.8808G>T (p.Glu2936Asp)
|
|
|
NM_001367624.2(ZNF469):c.8810C>A (p.Ser2937Tyr)
|
|
|
NM_001367624.2(ZNF469):c.8842G>T (p.Val2948Leu)
|
|
|
NM_001367624.2(ZNF469):c.8854G>C (p.Asp2952His)
|
|
|
NM_001367624.2(ZNF469):c.8863G>T (p.Ala2955Ser)
|
|
|
NM_001367624.2(ZNF469):c.8870G>A (p.Gly2957Asp)
|
|
|
NM_001367624.2(ZNF469):c.8877C>G (p.Ser2959Arg)
|
|
|
NM_001367624.2(ZNF469):c.8944G>A (p.Asp2982Asn)
|
|
|
NM_001367624.2(ZNF469):c.8947C>T (p.Arg2983Trp)
|
|
|
NM_001367624.2(ZNF469):c.8959A>G (p.Ile2987Val)
|
|
|
NM_001367624.2(ZNF469):c.8974A>G (p.Met2992Val)
|
|
|
NM_001367624.2(ZNF469):c.8980C>G (p.Pro2994Ala)
|
|
|
NM_001367624.2(ZNF469):c.8989T>G (p.Trp2997Gly)
|
|
|
NM_001367624.2(ZNF469):c.8991G>T (p.Trp2997Cys)
|
|
|
NM_001367624.2(ZNF469):c.9016G>C (p.Ala3006Pro)
|
|
|
NM_001367624.2(ZNF469):c.9019G>T (p.Asp3007Tyr)
|
|
|
NM_001367624.2(ZNF469):c.9047T>A (p.Val3016Glu)
|
|
|
NM_001367624.2(ZNF469):c.904C>G (p.Leu302Val)
|
|
|
NM_001367624.2(ZNF469):c.9059C>T (p.Pro3020Leu)
|
|
|
NM_001367624.2(ZNF469):c.9071A>G (p.Glu3024Gly)
|
|
|
NM_001367624.2(ZNF469):c.9089G>C (p.Gly3030Ala)
|
|
|
NM_001367624.2(ZNF469):c.9101G>A (p.Gly3034Glu)
|
|
|
NM_001367624.2(ZNF469):c.9124C>G (p.Arg3042Gly)
|
|
|
NM_001367624.2(ZNF469):c.9127G>A (p.Ala3043Thr)
|
|
|
NM_001367624.2(ZNF469):c.9156G>C (p.Lys3052Asn)
|
|
|
NM_001367624.2(ZNF469):c.9169G>A (p.Asp3057Asn)
|
|
|
NM_001367624.2(ZNF469):c.9179T>G (p.Phe3060Cys)
|
|
|
NM_001367624.2(ZNF469):c.9206G>A (p.Gly3069Asp)
|
|
|
NM_001367624.2(ZNF469):c.920A>G (p.His307Arg)
|
|
|
NM_001367624.2(ZNF469):c.9212C>T (p.Pro3071Leu)
|
|
|
NM_001367624.2(ZNF469):c.9215G>A (p.Gly3072Asp)
|
|
|
NM_001367624.2(ZNF469):c.9242C>T (p.Thr3081Met)
|
|
|
NM_001367624.2(ZNF469):c.9245C>T (p.Ala3082Val)
|
rs1015869921
|
|
NM_001367624.2(ZNF469):c.9247A>G (p.Ser3083Gly)
|
|
|
NM_001367624.2(ZNF469):c.925C>T (p.Pro309Ser)
|
|
|
NM_001367624.2(ZNF469):c.9338C>T (p.Ala3113Val)
|
|
|
NM_001367624.2(ZNF469):c.9344A>G (p.Tyr3115Cys)
|
|
|
NM_001367624.2(ZNF469):c.9347A>C (p.Lys3116Thr)
|
|
|
NM_001367624.2(ZNF469):c.9365A>G (p.Gln3122Arg)
|
|
|
NM_001367624.2(ZNF469):c.9368G>C (p.Arg3123Pro)
|
|
|
NM_001367624.2(ZNF469):c.9374G>A (p.Arg3125His)
|
|
|
NM_001367624.2(ZNF469):c.9377G>T (p.Ser3126Ile)
|
|
|
NM_001367624.2(ZNF469):c.9385G>A (p.Glu3129Lys)
|
|
|
NM_001367624.2(ZNF469):c.9398A>G (p.His3133Arg)
|
|
|
NM_001367624.2(ZNF469):c.9422C>T (p.Pro3141Leu)
|
|
|
NM_001367624.2(ZNF469):c.9446T>C (p.Val3149Ala)
|
|
|
NM_001367624.2(ZNF469):c.9458T>G (p.Phe3153Cys)
|
|
|
NM_001367624.2(ZNF469):c.9467G>C (p.Arg3156Pro)
|
|
|
NM_001367624.2(ZNF469):c.9473T>C (p.Leu3158Pro)
|
rs1906626370
|
|
NM_001367624.2(ZNF469):c.9479G>T (p.Arg3160Leu)
|
|
|
NM_001367624.2(ZNF469):c.947A>C (p.Glu316Ala)
|
|
|
NM_001367624.2(ZNF469):c.9502G>C (p.Ala3168Pro)
|
|
|
NM_001367624.2(ZNF469):c.9514G>T (p.Ala3172Ser)
|
|
|
NM_001367624.2(ZNF469):c.9584G>A (p.Arg3195His)
|
rs998090120
|
|
NM_001367624.2(ZNF469):c.9584G>T (p.Arg3195Leu)
|
|
|
NM_001367624.2(ZNF469):c.9586G>A (p.Glu3196Lys)
|
|
|
NM_001367624.2(ZNF469):c.9604G>A (p.Ala3202Thr)
|
|
|
NM_001367624.2(ZNF469):c.9612G>C (p.Arg3204Ser)
|
|
|
NM_001367624.2(ZNF469):c.9614G>A (p.Gly3205Glu)
|
|
|
NM_001367624.2(ZNF469):c.9619G>A (p.Ala3207Thr)
|
|
|
NM_001367624.2(ZNF469):c.9623G>A (p.Arg3208Gln)
|
|
|
NM_001367624.2(ZNF469):c.9649G>A (p.Gly3217Ser)
|
|
|
NM_001367624.2(ZNF469):c.9661A>G (p.Ser3221Gly)
|
|
|
NM_001367624.2(ZNF469):c.9701C>T (p.Pro3234Leu)
|
|
|
NM_001367624.2(ZNF469):c.9715C>T (p.His3239Tyr)
|
|
|
NM_001367624.2(ZNF469):c.9722G>T (p.Gly3241Val)
|
|
|
NM_001367624.2(ZNF469):c.9727_9741del (p.Arg3243_Lys3247del)
|
|
|
NM_001367624.2(ZNF469):c.9736G>A (p.Gly3246Ser)
|
|
|
NM_001367624.2(ZNF469):c.9745G>A (p.Ala3249Thr)
|
|
|
NM_001367624.2(ZNF469):c.9752G>A (p.Ser3251Asn)
|
|
|
NM_001367624.2(ZNF469):c.9755C>T (p.Pro3252Leu)
|
|
|
NM_001367624.2(ZNF469):c.9757G>A (p.Gly3253Arg)
|
|
|
NM_001367624.2(ZNF469):c.9775G>A (p.Glu3259Lys)
|
|
|
NM_001367624.2(ZNF469):c.9794A>G (p.Asp3265Gly)
|
|
|
NM_001367624.2(ZNF469):c.9812C>T (p.Ala3271Val)
|
|
|
NM_001367624.2(ZNF469):c.9820C>T (p.Arg3274Trp)
|
|
|
NM_001367624.2(ZNF469):c.9821G>A (p.Arg3274Gln)
|
|
|
NM_001367624.2(ZNF469):c.9827G>A (p.Arg3276His)
|
|
|
NM_001367624.2(ZNF469):c.9838A>C (p.Ser3280Arg)
|
|
|
NM_001367624.2(ZNF469):c.9845C>T (p.Pro3282Leu)
|
|
|
NM_001367624.2(ZNF469):c.9851G>A (p.Gly3284Glu)
|
|
|
NM_001367624.2(ZNF469):c.9859A>C (p.Thr3287Pro)
|
|
|
NM_001367624.2(ZNF469):c.9869G>A (p.Ser3290Asn)
|
|
|
NM_001367624.2(ZNF469):c.9935C>A (p.Ser3312Tyr)
|
|
|
NM_001367624.2(ZNF469):c.9941A>C (p.Asp3314Ala)
|
|
|
NM_001367624.2(ZNF469):c.9949G>C (p.Ala3317Pro)
|
|
|
NM_001367624.2(ZNF469):c.994C>A (p.Pro332Thr)
|
|
|
NM_001367624.2(ZNF469):c.9964C>T (p.Leu3322Phe)
|
|
|
NM_001367624.2(ZNF469):c.9985C>T (p.His3329Tyr)
|
|
|
NM_001371904.1(APOA5):c.1024G>A (p.Ala342Thr)
|
|
|
NM_001371904.1(APOA5):c.1044G>A (p.Trp348Ter)
|
|
|
NM_001371904.1(APOA5):c.122T>C (p.Val41Ala)
|
|
|
NM_001371904.1(APOA5):c.141G>T (p.Gln47His)
|
|
|
NM_001371904.1(APOA5):c.161+3G>A
|
|
|
NM_001371904.1(APOA5):c.196A>G (p.Asn66Asp)
|
|
|
NM_001371904.1(APOA5):c.272G>A (p.Gly91Asp)
|
|
|
NM_001371904.1(APOA5):c.294G>C (p.Glu98Asp)
|
|
|
NM_001371904.1(APOA5):c.317G>A (p.Arg106His)
|
|
|
NM_001371904.1(APOA5):c.332T>A (p.Met111Lys)
|
|
|
NM_001371904.1(APOA5):c.333G>A (p.Met111Ile)
|
|
|
NM_001371904.1(APOA5):c.333G>T (p.Met111Ile)
|
|
|
NM_001371904.1(APOA5):c.454C>T (p.Arg152Cys)
|
|
|
NM_001371904.1(APOA5):c.464G>A (p.Gly155Glu)
|
|
|
NM_001371904.1(APOA5):c.521A>G (p.Gln174Arg)
|
|
|
NM_001371904.1(APOA5):c.548A>T (p.His183Leu)
|
|
|
NM_001371904.1(APOA5):c.554G>A (p.Gly185Asp)
|
|
|
NM_001371904.1(APOA5):c.569T>C (p.Leu190Pro)
|
|
|
NM_001371904.1(APOA5):c.56C>T (p.Ser19Leu)
|
|
|
NM_001371904.1(APOA5):c.571T>A (p.Phe191Ile)
|
|
|
NM_001371904.1(APOA5):c.578_601del (p.Pro193_Gly201delinsArg)
|
|
|
NM_001371904.1(APOA5):c.586G>A (p.Glu196Lys)
|
|
|
NM_001371904.1(APOA5):c.595G>A (p.Val199Met)
|
|
|
NM_001371904.1(APOA5):c.615C>A (p.His205Gln)
|
|
|
NM_001371904.1(APOA5):c.615C>G (p.His205Gln)
|
|
|
NM_001371904.1(APOA5):c.641C>T (p.Ala214Val)
|
|
|
NM_001371904.1(APOA5):c.707C>A (p.Thr236Lys)
|
|
|
NM_001371904.1(APOA5):c.740A>G (p.Gln247Arg)
|
|
|
NM_001371904.1(APOA5):c.758T>C (p.Leu253Pro)
|
|
|
NM_001371904.1(APOA5):c.791C>A (p.Thr264Asn)
|
|
|
NM_001371904.1(APOA5):c.802G>A (p.Glu268Lys)
|
|
|
NM_001371904.1(APOA5):c.815C>T (p.Pro272Leu)
|
|
|
NM_001371904.1(APOA5):c.820C>A (p.Pro274Thr)
|
|
|
NM_001371904.1(APOA5):c.85G>A (p.Asp29Asn)
|
|
|
NM_001371904.1(APOA5):c.872A>T (p.Asp291Val)
|
|
|
NM_001371904.1(APOA5):c.874A>C (p.Thr292Pro)
|
|
|
NM_001371904.1(APOA5):c.889G>A (p.Ala297Thr)
|
|
|
NM_001371904.1(APOA5):c.901C>G (p.Arg301Gly)
|
|
|
NM_001371904.1(APOA5):c.902G>A (p.Arg301His)
|
|
|
NM_001371904.1(APOA5):c.916G>A (p.Glu306Lys)
|
|
|
NM_001371904.1(APOA5):c.919A>G (p.Thr307Ala)
|
|
|
NM_001371904.1(APOA5):c.932A>G (p.Gln311Arg)
|
|
|
NM_001371904.1(APOA5):c.949C>G (p.Pro317Ala)
|
|
|
NM_001378454.1(ALMS1):c.10004G>A (p.Gly3335Glu)
|
|
|
NM_001378454.1(ALMS1):c.10110T>G (p.Asp3370Glu)
|
|
|
NM_001378454.1(ALMS1):c.10130A>G (p.Lys3377Arg)
|
|
|
NM_001378454.1(ALMS1):c.10138G>A (p.Glu3380Lys)
|
|
|
NM_001378454.1(ALMS1):c.1016A>G (p.Tyr339Cys)
|
|
|
NM_001378454.1(ALMS1):c.10184A>G (p.Glu3395Gly)
|
|
|
NM_001378454.1(ALMS1):c.10207A>G (p.Thr3403Ala)
|
|
|
NM_001378454.1(ALMS1):c.10213+1G>A
|
rs374681570
|
|
NM_001378454.1(ALMS1):c.10226C>G (p.Ala3409Gly)
|
|
|
NM_001378454.1(ALMS1):c.10269GAA[1] (p.Lys3424del)
|
rs1184260245
|
|
NM_001378454.1(ALMS1):c.10284C>G (p.Asp3428Glu)
|
rs2104063874
|
|
NM_001378454.1(ALMS1):c.10289A>G (p.Lys3430Arg)
|
|
|
NM_001378454.1(ALMS1):c.10375A>C (p.Asn3459His)
|
|
|
NM_001378454.1(ALMS1):c.10381G>A (p.Glu3461Lys)
|
|
|
NM_001378454.1(ALMS1):c.10415C>A (p.Thr3472Asn)
|
|
|
NM_001378454.1(ALMS1):c.10462G>C (p.Val3488Leu)
|
rs1057523167
|
|
NM_001378454.1(ALMS1):c.10466A>G (p.His3489Arg)
|
|
|
NM_001378454.1(ALMS1):c.10483G>A (p.Asp3495Asn)
|
rs533617405
|
|
NM_001378454.1(ALMS1):c.10534A>G (p.Lys3512Glu)
|
|
|
NM_001378454.1(ALMS1):c.10545T>G (p.Phe3515Leu)
|
|
|
NM_001378454.1(ALMS1):c.10546C>G (p.Gln3516Glu)
|
|
|
NM_001378454.1(ALMS1):c.10566T>G (p.His3522Gln)
|
|
|
NM_001378454.1(ALMS1):c.10625A>T (p.Tyr3542Phe)
|
|
|
NM_001378454.1(ALMS1):c.1064A>G (p.Gln355Arg)
|
|
|
NM_001378454.1(ALMS1):c.10652A>G (p.Asn3551Ser)
|
rs868744829
|
|
NM_001378454.1(ALMS1):c.10670A>G (p.Lys3557Arg)
|
|
|
NM_001378454.1(ALMS1):c.10685C>T (p.Thr3562Ile)
|
|
|
NM_001378454.1(ALMS1):c.10721A>G (p.Asn3574Ser)
|
|
|
NM_001378454.1(ALMS1):c.1073A>T (p.Glu358Val)
|
|
|
NM_001378454.1(ALMS1):c.10750C>G (p.Gln3584Glu)
|
|
|
NM_001378454.1(ALMS1):c.10759A>G (p.Thr3587Ala)
|
|
|
NM_001378454.1(ALMS1):c.10772C>T (p.Thr3591Ile)
|
rs773091397
|
|
NM_001378454.1(ALMS1):c.10792T>G (p.Leu3598Val)
|
|
|
NM_001378454.1(ALMS1):c.10868T>C (p.Leu3623Pro)
|
|
|
NM_001378454.1(ALMS1):c.10883G>C (p.Arg3628Pro)
|
|
|
NM_001378454.1(ALMS1):c.10886T>C (p.Leu3629Pro)
|
|
|
NM_001378454.1(ALMS1):c.10916C>T (p.Pro3639Leu)
|
|
|
NM_001378454.1(ALMS1):c.10930C>T (p.Leu3644Phe)
|
|
|
NM_001378454.1(ALMS1):c.1093G>T (p.Asp365Tyr)
|
rs1229379546
|
|
NM_001378454.1(ALMS1):c.10946G>A (p.Ser3649Asn)
|
rs2104105859
|
|
NM_001378454.1(ALMS1):c.10952A>G (p.His3651Arg)
|
rs1294645835
|
|
NM_001378454.1(ALMS1):c.10952A>T (p.His3651Leu)
|
|
|
NM_001378454.1(ALMS1):c.10969G>C (p.Glu3657Gln)
|
|
|
NM_001378454.1(ALMS1):c.1097A>G (p.Gln366Arg)
|
rs2103715685
|
|
NM_001378454.1(ALMS1):c.10994G>A (p.Gly3665Asp)
|
|
|
NM_001378454.1(ALMS1):c.11062A>G (p.Asn3688Asp)
|
|
|
NM_001378454.1(ALMS1):c.110T>G (p.Val37Gly)
|
|
|
NM_001378454.1(ALMS1):c.11112G>T (p.Gly3704=)
|
|
|
NM_001378454.1(ALMS1):c.11119A>C (p.Asn3707His)
|
rs200464290
|
|
NM_001378454.1(ALMS1):c.11128A>C (p.Lys3710Gln)
|
|
|
NM_001378454.1(ALMS1):c.11140A>G (p.Ile3714Val)
|
rs370536187
|
|
NM_001378454.1(ALMS1):c.11147T>A (p.Phe3716Tyr)
|
|
|
NM_001378454.1(ALMS1):c.11176G>T (p.Gly3726Cys)
|
|
|
NM_001378454.1(ALMS1):c.11200T>A (p.Ser3734Thr)
|
rs1209512957
|
|
NM_001378454.1(ALMS1):c.1123A>G (p.Ile375Val)
|
|
|
NM_001378454.1(ALMS1):c.11246C>A (p.Thr3749Asn)
|
|
|
NM_001378454.1(ALMS1):c.11260C>G (p.Leu3754Val)
|
|
|
NM_001378454.1(ALMS1):c.11278A>G (p.Thr3760Ala)
|
|
|
NM_001378454.1(ALMS1):c.11294T>C (p.Ile3765Thr)
|
|
|
NM_001378454.1(ALMS1):c.11309A>G (p.Asp3770Gly)
|
rs770147613
|
|
NM_001378454.1(ALMS1):c.11321C>T (p.Ala3774Val)
|
|
|
NM_001378454.1(ALMS1):c.11323C>G (p.Leu3775Val)
|
rs771595125
|
|
NM_001378454.1(ALMS1):c.11336G>A (p.Ser3779Asn)
|
|
|
NM_001378454.1(ALMS1):c.11405C>T (p.Ser3802Leu)
|
|
|
NM_001378454.1(ALMS1):c.11414G>T (p.Arg3805Leu)
|
|
|
NM_001378454.1(ALMS1):c.11434A>C (p.Ile3812Leu)
|
|
|
NM_001378454.1(ALMS1):c.11441A>G (p.Asn3814Ser)
|
rs763907736
|
|
NM_001378454.1(ALMS1):c.11461G>A (p.Glu3821Lys)
|
|
|
NM_001378454.1(ALMS1):c.11500G>A (p.Gly3834Ser)
|
|
|
NM_001378454.1(ALMS1):c.11543T>A (p.Ile3848Asn)
|
|
|
NM_001378454.1(ALMS1):c.11559T>A (p.His3853Gln)
|
rs186141821
|
|
NM_001378454.1(ALMS1):c.11594G>A (p.Ser3865Asn)
|
|
|
NM_001378454.1(ALMS1):c.11668+3A>G
|
rs2104189383
|
|
NM_001378454.1(ALMS1):c.11680A>G (p.Ile3894Val)
|
|
|
NM_001378454.1(ALMS1):c.11688C>A (p.Asn3896Lys)
|
|
|
NM_001378454.1(ALMS1):c.11690G>A (p.Gly3897Asp)
|
|
|
NM_001378454.1(ALMS1):c.11695A>G (p.Lys3899Glu)
|
|
|
NM_001378454.1(ALMS1):c.116A>G (p.Asp39Gly)
|
|
|
NM_001378454.1(ALMS1):c.116A>T (p.Asp39Val)
|
|
|
NM_001378454.1(ALMS1):c.11704A>T (p.Thr3902Ser)
|
|
|
NM_001378454.1(ALMS1):c.11711A>G (p.Asp3904Gly)
|
|
|
NM_001378454.1(ALMS1):c.1175G>A (p.Arg392His)
|
|
|
NM_001378454.1(ALMS1):c.11798G>T (p.Arg3933Leu)
|
rs45576434
|
|
NM_001378454.1(ALMS1):c.11809A>G (p.Met3937Val)
|
|
|
NM_001378454.1(ALMS1):c.11812C>G (p.Leu3938Val)
|
|
|
NM_001378454.1(ALMS1):c.11813T>C (p.Leu3938Pro)
|
|
|
NM_001378454.1(ALMS1):c.11841G>T (p.Lys3947Asn)
|
|
|
NM_001378454.1(ALMS1):c.11849A>G (p.Lys3950Arg)
|
|
|
NM_001378454.1(ALMS1):c.11933C>A (p.Pro3978His)
|
|
|
NM_001378454.1(ALMS1):c.11948C>G (p.Pro3983Arg)
|
|
|
NM_001378454.1(ALMS1):c.11963T>C (p.Phe3988Ser)
|
|
|
NM_001378454.1(ALMS1):c.11971A>T (p.Ile3991Leu)
|
|
|
NM_001378454.1(ALMS1):c.12036C>A (p.Asp4012Glu)
|
rs370981817
|
|
NM_001378454.1(ALMS1):c.12041G>C (p.Arg4014Pro)
|
|
|
NM_001378454.1(ALMS1):c.12044G>T (p.Gly4015Val)
|
|
|
NM_001378454.1(ALMS1):c.12062G>A (p.Gly4021Asp)
|
|
|
NM_001378454.1(ALMS1):c.1208C>T (p.Ser403Leu)
|
|
|
NM_001378454.1(ALMS1):c.12097G>A (p.Val4033Met)
|
|
|
NM_001378454.1(ALMS1):c.12101G>A (p.Arg4034Lys)
|
|
|
NM_001378454.1(ALMS1):c.12106A>G (p.Thr4036Ala)
|
|
|
NM_001378454.1(ALMS1):c.12145A>G (p.Ile4049Val)
|
|
|
NM_001378454.1(ALMS1):c.12151C>A (p.Arg4051Ser)
|
|
|
NM_001378454.1(ALMS1):c.12163C>G (p.Arg4055Gly)
|
|
|
NM_001378454.1(ALMS1):c.12175_12177delinsTTT (p.Leu4059Phe)
|
|
|
NM_001378454.1(ALMS1):c.12179A>G (p.Lys4060Arg)
|
|
|
NM_001378454.1(ALMS1):c.12192G>T (p.Gln4064His)
|
|
|
NM_001378454.1(ALMS1):c.1220C>G (p.Ala407Gly)
|
|
|
NM_001378454.1(ALMS1):c.12214T>A (p.Leu4072Ile)
|
|
|
NM_001378454.1(ALMS1):c.12223G>A (p.Glu4075Lys)
|
|
|
NM_001378454.1(ALMS1):c.12241A>G (p.Asn4081Asp)
|
|
|
NM_001378454.1(ALMS1):c.12273T>G (p.Asn4091Lys)
|
|
|
NM_001378454.1(ALMS1):c.12342A>C (p.Glu4114Asp)
|
|
|
NM_001378454.1(ALMS1):c.12345G>A (p.Met4115Ile)
|
|
|
NM_001378454.1(ALMS1):c.12356C>G (p.Ser4119Cys)
|
|
|
NM_001378454.1(ALMS1):c.12361C>T (p.Arg4121Trp)
|
|
|
NM_001378454.1(ALMS1):c.12389A>T (p.Gln4130Leu)
|
rs371587051
|
|
NM_001378454.1(ALMS1):c.12394A>C (p.Lys4132Gln)
|
|
|
NM_001378454.1(ALMS1):c.12398_12401del (p.Arg4133fs)
|
rs761223068
|
|
NM_001378454.1(ALMS1):c.12399AGA[2] (p.Glu4136del)
|
rs764575993
|
|
NM_001378454.1(ALMS1):c.12417A>T (p.Lys4139Asn)
|
|
|
NM_001378454.1(ALMS1):c.12433T>C (p.Tyr4145His)
|
|
|
NM_001378454.1(ALMS1):c.12437G>A (p.Arg4146Gln)
|
|
|
NM_001378454.1(ALMS1):c.12439C>G (p.Leu4147Val)
|
|
|
NM_001378454.1(ALMS1):c.12462+1G>T
|
|
|
NM_001378454.1(ALMS1):c.12463-1G>C
|
|
|
NM_001378454.1(ALMS1):c.124G>A (p.Val42Ile)
|
|
|
NM_001378454.1(ALMS1):c.1322C>G (p.Ala441Gly)
|
|
|
NM_001378454.1(ALMS1):c.1338+3G>A
|
|
|
NM_001378454.1(ALMS1):c.1343C>G (p.Thr448Arg)
|
rs774335945
|
|
NM_001378454.1(ALMS1):c.134A>C (p.Glu45Ala)
|
|
|
NM_001378454.1(ALMS1):c.1352C>T (p.Ser451Leu)
|
|
|
NM_001378454.1(ALMS1):c.1381T>A (p.Leu461Met)
|
|
|
NM_001378454.1(ALMS1):c.1403T>C (p.Val468Ala)
|
|
|
NM_001378454.1(ALMS1):c.1445A>G (p.Lys482Arg)
|
|
|
NM_001378454.1(ALMS1):c.1461A>C (p.Lys487Asn)
|
rs1671840179
|
|
NM_001378454.1(ALMS1):c.1486G>A (p.Gly496Ser)
|
|
|
NM_001378454.1(ALMS1):c.1615C>G (p.Gln539Glu)
|
|
|
NM_001378454.1(ALMS1):c.1669A>T (p.Ile557Phe)
|
|
|
NM_001378454.1(ALMS1):c.1744A>C (p.Ser582Arg)
|
|
|
NM_001378454.1(ALMS1):c.1762G>A (p.Gly588Ser)
|
|
|
NM_001378454.1(ALMS1):c.1772A>G (p.Asp591Gly)
|
|
|
NM_001378454.1(ALMS1):c.1826A>G (p.Asp609Gly)
|
|
|
NM_001378454.1(ALMS1):c.1882C>T (p.Pro628Ser)
|
|
|
NM_001378454.1(ALMS1):c.1927G>C (p.Glu643Gln)
|
|
|
NM_001378454.1(ALMS1):c.1933C>G (p.Pro645Ala)
|
rs146234123
|
|
NM_001378454.1(ALMS1):c.1941A>C (p.Glu647Asp)
|
rs768031771
|
|
NM_001378454.1(ALMS1):c.1948G>C (p.Ala650Pro)
|
|
|
NM_001378454.1(ALMS1):c.1966G>A (p.Glu656Lys)
|
|
|
NM_001378454.1(ALMS1):c.1975A>G (p.Thr659Ala)
|
|
|
NM_001378454.1(ALMS1):c.1999A>G (p.Thr667Ala)
|
rs28730850
|
|
NM_001378454.1(ALMS1):c.2008T>A (p.Ser670Thr)
|
|
|
NM_001378454.1(ALMS1):c.2099G>A (p.Gly700Glu)
|
|
|
NM_001378454.1(ALMS1):c.2105C>G (p.Ala702Gly)
|
|
|
NM_001378454.1(ALMS1):c.2117C>T (p.Thr706Ile)
|
|
|
NM_001378454.1(ALMS1):c.2138C>T (p.Ser713Phe)
|
|
|
NM_001378454.1(ALMS1):c.2144C>G (p.Pro715Arg)
|
|
|
NM_001378454.1(ALMS1):c.2227G>C (p.Val743Leu)
|
rs1046271130
|
|
NM_001378454.1(ALMS1):c.2243G>T (p.Gly748Val)
|
|
|
NM_001378454.1(ALMS1):c.2251G>A (p.Asp751Asn)
|
|
|
NM_001378454.1(ALMS1):c.2261C>A (p.Thr754Asn)
|
|
|
NM_001378454.1(ALMS1):c.2279A>G (p.Gln760Arg)
|
rs1572932391
|
|
NM_001378454.1(ALMS1):c.2293_3150del (p.Ser765_Tyr1050del)
|
rs2103774407
|
|
NM_001378454.1(ALMS1):c.2297A>G (p.Gln766Arg)
|
|
|
NM_001378454.1(ALMS1):c.2438A>G (p.His813Arg)
|
|
|
NM_001378454.1(ALMS1):c.2450T>C (p.Leu817Pro)
|
|
|
NM_001378454.1(ALMS1):c.2465A>G (p.Gln822Arg)
|
|
|
NM_001378454.1(ALMS1):c.2470G>A (p.Ala824Thr)
|
|
|
NM_001378454.1(ALMS1):c.2471C>A (p.Ala824Asp)
|
rs754424459
|
|
NM_001378454.1(ALMS1):c.2498A>G (p.Glu833Gly)
|
|
|
NM_001378454.1(ALMS1):c.249C>A (p.His83Gln)
|
|
|
NM_001378454.1(ALMS1):c.253G>A (p.Gly85Ser)
|
|
|
NM_001378454.1(ALMS1):c.2555C>T (p.Ala852Val)
|
|
|
NM_001378454.1(ALMS1):c.2566A>G (p.Thr856Ala)
|
|
|
NM_001378454.1(ALMS1):c.2642C>T (p.Thr881Ile)
|
|
|
NM_001378454.1(ALMS1):c.2671C>T (p.Pro891Ser)
|
|
|
NM_001378454.1(ALMS1):c.2683_2685del (p.Asp895del)
|
rs763288832
|
|
NM_001378454.1(ALMS1):c.2726C>T (p.Ser909Leu)
|
rs746640196
|
|
NM_001378454.1(ALMS1):c.2801T>G (p.Val934Gly)
|
|
|
NM_001378454.1(ALMS1):c.281C>T (p.Pro94Leu)
|
|
|
NM_001378454.1(ALMS1):c.2848G>T (p.Val950Leu)
|
rs370733145
|
|
NM_001378454.1(ALMS1):c.2866T>C (p.Ser956Pro)
|
|
|
NM_001378454.1(ALMS1):c.2875G>A (p.Glu959Lys)
|
|
|
NM_001378454.1(ALMS1):c.2911G>C (p.Asp971His)
|
|
|
NM_001378454.1(ALMS1):c.2948C>T (p.Ala983Val)
|
|
|
NM_001378454.1(ALMS1):c.2969A>G (p.Gln990Arg)
|
|
|
NM_001378454.1(ALMS1):c.296C>T (p.Ser99Leu)
|
|
|
NM_001378454.1(ALMS1):c.2989A>G (p.Thr997Ala)
|
|
|
NM_001378454.1(ALMS1):c.301G>A (p.Gly101Ser)
|
|
|
NM_001378454.1(ALMS1):c.302G>A (p.Gly101Asp)
|
|
|
NM_001378454.1(ALMS1):c.3070G>C (p.Glu1024Gln)
|
|
|
NM_001378454.1(ALMS1):c.3072A>C (p.Glu1024Asp)
|
rs1671884089
|
|
NM_001378454.1(ALMS1):c.3086T>A (p.Val1029Asp)
|
|
|
NM_001378454.1(ALMS1):c.3091A>G (p.Thr1031Ala)
|
|
|
NM_001378454.1(ALMS1):c.3115A>G (p.Lys1039Glu)
|
|
|
NM_001378454.1(ALMS1):c.3127C>T (p.Pro1043Ser)
|
rs376987487
|
|
NM_001378454.1(ALMS1):c.3143G>A (p.Ser1048Asn)
|
|
|
NM_001378454.1(ALMS1):c.3169A>G (p.Ser1057Gly)
|
rs750417761
|
|
NM_001378454.1(ALMS1):c.325-1G>A
|
rs764337753
|
|
NM_001378454.1(ALMS1):c.3268C>T (p.Pro1090Ser)
|
|
|
NM_001378454.1(ALMS1):c.3305A>G (p.Lys1102Arg)
|
|
|
NM_001378454.1(ALMS1):c.3357G>T (p.Glu1119Asp)
|
|
|
NM_001378454.1(ALMS1):c.3472G>C (p.Ala1158Pro)
|
rs376302473
|
|
NM_001378454.1(ALMS1):c.3488A>T (p.His1163Leu)
|
|
|
NM_001378454.1(ALMS1):c.3551T>C (p.Ile1184Thr)
|
|
|
NM_001378454.1(ALMS1):c.3563T>G (p.Leu1188Arg)
|
|
|
NM_001378454.1(ALMS1):c.3596G>A (p.Gly1199Asp)
|
rs1572934110
|
|
NM_001378454.1(ALMS1):c.3596G>C (p.Gly1199Ala)
|
|
|
NM_001378454.1(ALMS1):c.3635C>G (p.Pro1212Arg)
|
|
|
NM_001378454.1(ALMS1):c.3641A>C (p.Glu1214Ala)
|
|
|
NM_001378454.1(ALMS1):c.3667G>A (p.Gly1223Arg)
|
|
|
NM_001378454.1(ALMS1):c.3678C>G (p.Asp1226Glu)
|
|
|
NM_001378454.1(ALMS1):c.3707C>T (p.Ser1236Phe)
|
|
|
NM_001378454.1(ALMS1):c.3724A>G (p.Thr1242Ala)
|
|
|
NM_001378454.1(ALMS1):c.374A>G (p.Asn125Ser)
|
|
|
NM_001378454.1(ALMS1):c.375TAG[1] (p.Ser126del)
|
rs760942576
|
|
NM_001378454.1(ALMS1):c.3769C>T (p.His1257Tyr)
|
|
|
NM_001378454.1(ALMS1):c.3770A>T (p.His1257Leu)
|
|
|
NM_001378454.1(ALMS1):c.379A>G (p.Arg127Gly)
|
|
|
NM_001378454.1(ALMS1):c.3812C>T (p.Pro1271Leu)
|
rs372563916
|
|
NM_001378454.1(ALMS1):c.3815_3817del (p.Val1272del)
|
rs954466797
|
|
NM_001378454.1(ALMS1):c.3839C>G (p.Ala1280Gly)
|
|
|
NM_001378454.1(ALMS1):c.3853T>G (p.Ser1285Ala)
|
|
|
NM_001378454.1(ALMS1):c.3857A>C (p.Tyr1286Ser)
|
rs2103780445
|
|
NM_001378454.1(ALMS1):c.3899C>T (p.Ser1300Leu)
|
rs769219669
|
|
NM_001378454.1(ALMS1):c.3907AGT[1] (p.Ser1304del)
|
rs775132874
|
|
NM_001378454.1(ALMS1):c.398C>T (p.Thr133Ile)
|
rs1348003970
|
|
NM_001378454.1(ALMS1):c.4001A>G (p.Tyr1334Cys)
|
|
|
NM_001378454.1(ALMS1):c.4016A>G (p.Lys1339Arg)
|
|
|
NM_001378454.1(ALMS1):c.4036C>G (p.Gln1346Glu)
|
|
|
NM_001378454.1(ALMS1):c.406G>T (p.Val136Phe)
|
|
|
NM_001378454.1(ALMS1):c.4096C>T (p.Pro1366Ser)
|
|
|
NM_001378454.1(ALMS1):c.40G>A (p.Glu14Lys)
|
|
|
NM_001378454.1(ALMS1):c.4184C>T (p.Ser1395Leu)
|
|
|
NM_001378454.1(ALMS1):c.4207G>A (p.Glu1403Lys)
|
|
|
NM_001378454.1(ALMS1):c.4289C>T (p.Ser1430Leu)
|
|
|
NM_001378454.1(ALMS1):c.4291C>A (p.His1431Asn)
|
|
|
NM_001378454.1(ALMS1):c.4297G>C (p.Glu1433Gln)
|
|
|
NM_001378454.1(ALMS1):c.4310G>T (p.Ser1437Ile)
|
|
|
NM_001378454.1(ALMS1):c.431G>A (p.Arg144Gln)
|
|
|
NM_001378454.1(ALMS1):c.4354G>A (p.Ala1452Thr)
|
|
|
NM_001378454.1(ALMS1):c.4363G>A (p.Val1455Ile)
|
rs1445707777
|
|
NM_001378454.1(ALMS1):c.4369G>T (p.Val1457Phe)
|
rs373453289
|
|
NM_001378454.1(ALMS1):c.4427G>C (p.Ser1476Thr)
|
|
|
NM_001378454.1(ALMS1):c.4453A>T (p.Ile1485Phe)
|
|
|
NM_001378454.1(ALMS1):c.4537A>G (p.Thr1513Ala)
|
|
|
NM_001378454.1(ALMS1):c.4556C>T (p.Thr1519Ile)
|
|
|
NM_001378454.1(ALMS1):c.4574A>C (p.Gln1525Pro)
|
|
|
NM_001378454.1(ALMS1):c.4621A>G (p.Ser1541Gly)
|
|
|
NM_001378454.1(ALMS1):c.4626A>C (p.Gln1542His)
|
rs201603580
|
|
NM_001378454.1(ALMS1):c.4639G>A (p.Ala1547Thr)
|
|
|
NM_001378454.1(ALMS1):c.46G>A (p.Glu16Lys)
|
rs1174023229
|
|
NM_001378454.1(ALMS1):c.46_52delinsA (p.Glu16_Glu18delinsLys)
|
|
|
NM_001378454.1(ALMS1):c.4700C>A (p.Thr1567Asn)
|
|
|
NM_001378454.1(ALMS1):c.4729C>T (p.Pro1577Ser)
|
|
|
NM_001378454.1(ALMS1):c.4742A>G (p.Tyr1581Cys)
|
|
|
NM_001378454.1(ALMS1):c.4757C>T (p.Pro1586Leu)
|
|
|
NM_001378454.1(ALMS1):c.4766A>G (p.His1589Arg)
|
|
|
NM_001378454.1(ALMS1):c.4820A>G (p.Lys1607Arg)
|
|
|
NM_001378454.1(ALMS1):c.4823C>T (p.Thr1608Ile)
|
|
|
NM_001378454.1(ALMS1):c.4828A>G (p.Ile1610Val)
|
|
|
NM_001378454.1(ALMS1):c.4840C>T (p.Pro1614Ser)
|
|
|
NM_001378454.1(ALMS1):c.4873A>G (p.Ile1625Val)
|
|
|
NM_001378454.1(ALMS1):c.4933T>C (p.Ser1645Pro)
|
|
|
NM_001378454.1(ALMS1):c.4940C>G (p.Ala1647Gly)
|
rs2103784552
|
|
NM_001378454.1(ALMS1):c.4970C>A (p.Thr1657Lys)
|
|
|
NM_001378454.1(ALMS1):c.4987A>C (p.Thr1663Pro)
|
|
|
NM_001378454.1(ALMS1):c.5006G>A (p.Gly1669Glu)
|
rs267599447
|
|
NM_001378454.1(ALMS1):c.5024A>G (p.Tyr1675Cys)
|
|
|
NM_001378454.1(ALMS1):c.5087G>A (p.Gly1696Glu)
|
|
|
NM_001378454.1(ALMS1):c.5120T>C (p.Val1707Ala)
|
|
|
NM_001378454.1(ALMS1):c.5143A>G (p.Arg1715Gly)
|
|
|
NM_001378454.1(ALMS1):c.5144G>C (p.Arg1715Thr)
|
|
|
NM_001378454.1(ALMS1):c.5164T>C (p.Tyr1722His)
|
|
|
NM_001378454.1(ALMS1):c.5195C>T (p.Thr1732Ile)
|
rs2103785499
|
|
NM_001378454.1(ALMS1):c.5350A>G (p.Lys1784Glu)
|
|
|
NM_001378454.1(ALMS1):c.5372C>A (p.Pro1791Gln)
|
|
|
NM_001378454.1(ALMS1):c.5387C>T (p.Thr1796Ile)
|
|
|
NM_001378454.1(ALMS1):c.5391_5525del (p.Val1798_Gly1842del)
|
|
|
NM_001378454.1(ALMS1):c.5417A>G (p.Tyr1806Cys)
|
rs374046216
|
|
NM_001378454.1(ALMS1):c.5453G>A (p.Arg1818Gln)
|
rs200925575
|
|
NM_001378454.1(ALMS1):c.5453G>T (p.Arg1818Leu)
|
rs200925575
|
|
NM_001378454.1(ALMS1):c.5515C>G (p.Gln1839Glu)
|
rs1252756270
|
|
NM_001378454.1(ALMS1):c.5690C>T (p.Ser1897Leu)
|
|
|
NM_001378454.1(ALMS1):c.5711T>A (p.Ile1904Asn)
|
|
|
NM_001378454.1(ALMS1):c.5720A>G (p.Gln1907Arg)
|
|
|
NM_001378454.1(ALMS1):c.5741C>T (p.Thr1914Ile)
|
|
|
NM_001378454.1(ALMS1):c.5785C>T (p.Arg1929Trp)
|
rs938557636
|
|
NM_001378454.1(ALMS1):c.5795A>G (p.Glu1932Gly)
|
|
|
NM_001378454.1(ALMS1):c.5828G>C (p.Arg1943Pro)
|
|
|
NM_001378454.1(ALMS1):c.5828G>T (p.Arg1943Leu)
|
rs146669152
|
|
NM_001378454.1(ALMS1):c.582A>G (p.Ile194Met)
|
|
|
NM_001378454.1(ALMS1):c.5870A>T (p.Asp1957Val)
|
|
|
NM_001378454.1(ALMS1):c.5877T>A (p.His1959Gln)
|
|
|
NM_001378454.1(ALMS1):c.5917C>T (p.Pro1973Ser)
|
|
|
NM_001378454.1(ALMS1):c.5918C>T (p.Pro1973Leu)
|
|
|
NM_001378454.1(ALMS1):c.591A>C (p.Gln197His)
|
|
|
NM_001378454.1(ALMS1):c.5990A>T (p.Lys1997Met)
|
|
|
NM_001378454.1(ALMS1):c.5996C>T (p.Ser1999Leu)
|
|
|
NM_001378454.1(ALMS1):c.6016G>A (p.Asp2006Asn)
|
rs1671968768
|
|
NM_001378454.1(ALMS1):c.6024A>C (p.Lys2008Asn)
|
rs1671969063
|
|
NM_001378454.1(ALMS1):c.6068A>G (p.Glu2023Gly)
|
rs376120513
|
|
NM_001378454.1(ALMS1):c.6085A>G (p.Thr2029Ala)
|
|
|
NM_001378454.1(ALMS1):c.608A>G (p.Lys203Arg)
|
|
|
NM_001378454.1(ALMS1):c.6091A>G (p.Ile2031Val)
|
|
|
NM_001378454.1(ALMS1):c.6151A>G (p.Thr2051Ala)
|
rs2103789073
|
|
NM_001378454.1(ALMS1):c.6194G>A (p.Arg2065Lys)
|
rs2103789247
|
|
NM_001378454.1(ALMS1):c.6200A>G (p.Gln2067Arg)
|
|
|
NM_001378454.1(ALMS1):c.6256G>A (p.Gly2086Arg)
|
|
|
NM_001378454.1(ALMS1):c.6274T>C (p.Ser2092Pro)
|
|
|
NM_001378454.1(ALMS1):c.6284A>C (p.Tyr2095Ser)
|
|
|
NM_001378454.1(ALMS1):c.6304A>C (p.Asn2102His)
|
rs1386959032
|
|
NM_001378454.1(ALMS1):c.6322G>A (p.Glu2108Lys)
|
|
|
NM_001378454.1(ALMS1):c.6323A>G (p.Glu2108Gly)
|
|
|
NM_001378454.1(ALMS1):c.6395C>G (p.Thr2132Arg)
|
|
|
NM_001378454.1(ALMS1):c.6404C>T (p.Pro2135Leu)
|
|
|
NM_001378454.1(ALMS1):c.6406_6408dup (p.Thr2136_Ala2137insThr)
|
|
|
NM_001378454.1(ALMS1):c.6407C>T (p.Thr2136Ile)
|
|
|
NM_001378454.1(ALMS1):c.6482T>A (p.Leu2161Gln)
|
|
|
NM_001378454.1(ALMS1):c.6524C>T (p.Ala2175Val)
|
rs549259627
|
|
NM_001378454.1(ALMS1):c.6612G>C (p.Arg2204Ser)
|
rs758379924
|
|
NM_001378454.1(ALMS1):c.6637G>C (p.Asp2213His)
|
|
|
NM_001378454.1(ALMS1):c.6731T>G (p.Val2244Gly)
|
|
|
NM_001378454.1(ALMS1):c.6745A>T (p.Ile2249Phe)
|
rs946232848
|
|
NM_001378454.1(ALMS1):c.6787C>T (p.Arg2263Trp)
|
|
|
NM_001378454.1(ALMS1):c.6811A>G (p.Asn2271Asp)
|
rs1558651314
|
|
NM_001378454.1(ALMS1):c.6817G>A (p.Ala2273Thr)
|
|
|
NM_001378454.1(ALMS1):c.6865A>T (p.Ile2289Phe)
|
|
|
NM_001378454.1(ALMS1):c.6886C>G (p.Gln2296Glu)
|
rs747355678
|
|
NM_001378454.1(ALMS1):c.68A>C (p.Glu23Ala)
|
|
|
NM_001378454.1(ALMS1):c.6937A>C (p.Asn2313His)
|
|
|
NM_001378454.1(ALMS1):c.695T>G (p.Leu232Trp)
|
|
|
NM_001378454.1(ALMS1):c.7007T>G (p.Ile2336Ser)
|
|
|
NM_001378454.1(ALMS1):c.7019C>T (p.Thr2340Met)
|
|
|
NM_001378454.1(ALMS1):c.7032C>G (p.Cys2344Trp)
|
|
|
NM_001378454.1(ALMS1):c.7044T>G (p.Ile2348Met)
|
|
|
NM_001378454.1(ALMS1):c.7069A>G (p.Thr2357Ala)
|
|
|
NM_001378454.1(ALMS1):c.707A>G (p.Gln236Arg)
|
|
|
NM_001378454.1(ALMS1):c.7103G>A (p.Ser2368Asn)
|
rs781640600
|
|
NM_001378454.1(ALMS1):c.7167G>T (p.Arg2389Ser)
|
rs1553404408
|
|
NM_001378454.1(ALMS1):c.7174C>T (p.Pro2392Ser)
|
|
|
NM_001378454.1(ALMS1):c.7193C>A (p.Thr2398Asn)
|
rs200470452
|
|
NM_001378454.1(ALMS1):c.7203T>G (p.Asn2401Lys)
|
|
|
NM_001378454.1(ALMS1):c.7246A>G (p.Ser2416Gly)
|
|
|
NM_001378454.1(ALMS1):c.7270G>A (p.Gly2424Ser)
|
|
|
NM_001378454.1(ALMS1):c.7280C>T (p.Ser2427Leu)
|
|
|
NM_001378454.1(ALMS1):c.7288A>G (p.Ser2430Gly)
|
rs539112266
|
|
NM_001378454.1(ALMS1):c.7346A>G (p.Tyr2449Cys)
|
rs766767334
|
|
NM_001378454.1(ALMS1):c.734A>G (p.His245Arg)
|
|
|
NM_001378454.1(ALMS1):c.7370C>T (p.Thr2457Ile)
|
|
|
NM_001378454.1(ALMS1):c.7388A>G (p.Glu2463Gly)
|
|
|
NM_001378454.1(ALMS1):c.7458_7460del (p.Leu2487del)
|
|
|
NM_001378454.1(ALMS1):c.7498C>T (p.Leu2500Phe)
|
|
|
NM_001378454.1(ALMS1):c.7507G>T (p.Ala2503Ser)
|
rs202060439
|
|
NM_001378454.1(ALMS1):c.7562T>C (p.Leu2521Ser)
|
|
|
NM_001378454.1(ALMS1):c.7596A>T (p.Leu2532Phe)
|
|
|
NM_001378454.1(ALMS1):c.7599T>G (p.Asn2533Lys)
|
|
|
NM_001378454.1(ALMS1):c.7607A>G (p.Asp2536Gly)
|
|
|
NM_001378454.1(ALMS1):c.760C>G (p.Leu254Val)
|
|
|
NM_001378454.1(ALMS1):c.7642T>C (p.Phe2548Leu)
|
|
|
NM_001378454.1(ALMS1):c.7652G>A (p.Gly2551Glu)
|
|
|
NM_001378454.1(ALMS1):c.7668G>T (p.Leu2556Phe)
|
|
|
NM_001378454.1(ALMS1):c.7674+5A>G
|
rs756532322
|
|
NM_001378454.1(ALMS1):c.7681C>G (p.Gln2561Glu)
|
|
|
NM_001378454.1(ALMS1):c.7682A>T (p.Gln2561Leu)
|
|
|
NM_001378454.1(ALMS1):c.7684A>G (p.Ser2562Gly)
|
|
|
NM_001378454.1(ALMS1):c.7688C>G (p.Pro2563Arg)
|
|
|
NM_001378454.1(ALMS1):c.7688C>T (p.Pro2563Leu)
|
|
|
NM_001378454.1(ALMS1):c.7690C>T (p.Arg2564Trp)
|
|
|
NM_001378454.1(ALMS1):c.7709C>T (p.Pro2570Leu)
|
|
|
NM_001378454.1(ALMS1):c.770T>A (p.Ile257Asn)
|
|
|
NM_001378454.1(ALMS1):c.7750A>G (p.Lys2584Glu)
|
rs776783409
|
|
NM_001378454.1(ALMS1):c.7753G>C (p.Gly2585Arg)
|
|
|
NM_001378454.1(ALMS1):c.7763G>A (p.Arg2588Gln)
|
|
|
NM_001378454.1(ALMS1):c.7792G>T (p.Asp2598Tyr)
|
|
|
NM_001378454.1(ALMS1):c.7799A>G (p.His2600Arg)
|
|
|
NM_001378454.1(ALMS1):c.77A>C (p.Glu26Ala)
|
|
|
NM_001378454.1(ALMS1):c.7801C>G (p.Pro2601Ala)
|
|
|
NM_001378454.1(ALMS1):c.7811T>C (p.Phe2604Ser)
|
rs1672935406
|
|
NM_001378454.1(ALMS1):c.7843G>A (p.Gly2615Arg)
|
|
|
NM_001378454.1(ALMS1):c.786_788dup (p.Glu262_Asp263insGlu)
|
|
|
NM_001378454.1(ALMS1):c.7907A>C (p.Asn2636Thr)
|
|
|
NM_001378454.1(ALMS1):c.7913C>A (p.Ser2638Tyr)
|
|
|
NM_001378454.1(ALMS1):c.7924G>A (p.Val2642Ile)
|
|
|
NM_001378454.1(ALMS1):c.7981G>A (p.Glu2661Lys)
|
rs762452929
|
|
NM_001378454.1(ALMS1):c.8006G>A (p.Arg2669Gln)
|
|
|
NM_001378454.1(ALMS1):c.8026A>T (p.Met2676Leu)
|
|
|
NM_001378454.1(ALMS1):c.812C>T (p.Ser271Leu)
|
|
|
NM_001378454.1(ALMS1):c.814G>C (p.Glu272Gln)
|
|
|
NM_001378454.1(ALMS1):c.8182A>C (p.Asn2728His)
|
|
|
NM_001378454.1(ALMS1):c.8210C>T (p.Thr2737Ile)
|
|
|
NM_001378454.1(ALMS1):c.8257C>T (p.His2753Tyr)
|
|
|
NM_001378454.1(ALMS1):c.8279C>G (p.Pro2760Arg)
|
|
|
NM_001378454.1(ALMS1):c.8281_8283delinsACT (p.Pro2761Thr)
|
|
|
NM_001378454.1(ALMS1):c.8306C>T (p.Ser2769Phe)
|
rs1060500037
|
|
NM_001378454.1(ALMS1):c.8324A>G (p.Lys2775Arg)
|
|
|
NM_001378454.1(ALMS1):c.8345A>G (p.Asp2782Gly)
|
rs1672950843
|
|
NM_001378454.1(ALMS1):c.8396C>G (p.Pro2799Arg)
|
|
|
NM_001378454.1(ALMS1):c.8446G>A (p.Asp2816Asn)
|
|
|
NM_001378454.1(ALMS1):c.844_845delinsTT (p.Ala282Leu)
|
|
|
NM_001378454.1(ALMS1):c.8485A>C (p.Asn2829His)
|
|
|
NM_001378454.1(ALMS1):c.8499C>G (p.Phe2833Leu)
|
|
|
NM_001378454.1(ALMS1):c.8506A>G (p.Ile2836Val)
|
|
|
NM_001378454.1(ALMS1):c.8530C>G (p.Leu2844Val)
|
|
|
NM_001378454.1(ALMS1):c.8543G>A (p.Gly2848Asp)
|
|
|
NM_001378454.1(ALMS1):c.8549C>T (p.Pro2850Leu)
|
|
|
NM_001378454.1(ALMS1):c.8571_8597dup (p.Val2865_Lys2866insAsnArgSerSerSerArgLeuGlyVal)
|
|
|
NM_001378454.1(ALMS1):c.8593G>A (p.Val2865Ile)
|
rs780429128
|
|
NM_001378454.1(ALMS1):c.8624A>T (p.Asp2875Val)
|
|
|
NM_001378454.1(ALMS1):c.8635T>C (p.Cys2879Arg)
|
|
|
NM_001378454.1(ALMS1):c.8660T>C (p.Leu2887Pro)
|
|
|
NM_001378454.1(ALMS1):c.8672G>A (p.Ser2891Asn)
|
rs756101133
|
|
NM_001378454.1(ALMS1):c.8722C>T (p.Pro2908Ser)
|
|
|
NM_001378454.1(ALMS1):c.8751C>A (p.Asp2917Glu)
|
|
|
NM_001378454.1(ALMS1):c.8756C>G (p.Pro2919Arg)
|
|
|
NM_001378454.1(ALMS1):c.8771T>C (p.Leu2924Pro)
|
|
|
NM_001378454.1(ALMS1):c.8788T>C (p.Phe2930Leu)
|
|
|
NM_001378454.1(ALMS1):c.8799C>G (p.Cys2933Trp)
|
|
|
NM_001378454.1(ALMS1):c.8833A>G (p.Asn2945Asp)
|
rs1330910084
|
|
NM_001378454.1(ALMS1):c.8878C>G (p.Leu2960Val)
|
|
|
NM_001378454.1(ALMS1):c.8902C>G (p.Gln2968Glu)
|
rs758433515
|
|
NM_001378454.1(ALMS1):c.8939T>A (p.Met2980Lys)
|
|
|
NM_001378454.1(ALMS1):c.8956C>G (p.Pro2986Ala)
|
|
|
NM_001378454.1(ALMS1):c.895C>T (p.Pro299Ser)
|
rs1349884233
|
|
NM_001378454.1(ALMS1):c.8972A>G (p.Gln2991Arg)
|
|
|
NM_001378454.1(ALMS1):c.8991G>C (p.Lys2997Asn)
|
|
|
NM_001378454.1(ALMS1):c.8995A>T (p.Asn2999Tyr)
|
|
|
NM_001378454.1(ALMS1):c.9004A>C (p.Lys3002Gln)
|
|
|
NM_001378454.1(ALMS1):c.9016C>T (p.His3006Tyr)
|
rs779131632
|
|
NM_001378454.1(ALMS1):c.9017A>T (p.His3006Leu)
|
|
|
NM_001378454.1(ALMS1):c.9066G>C (p.Gln3022His)
|
|
|
NM_001378454.1(ALMS1):c.90_92del (p.Ala35del)
|
rs973057702
|
|
NM_001378454.1(ALMS1):c.9158C>T (p.Pro3053Leu)
|
rs768273806
|
|
NM_001378454.1(ALMS1):c.9195T>G (p.Asp3065Glu)
|
|
|
NM_001378454.1(ALMS1):c.9205C>T (p.His3069Tyr)
|
|
|
NM_001378454.1(ALMS1):c.9225_9226insTTT (p.Ser3075_Lys3076insPhe)
|
|
|
NM_001378454.1(ALMS1):c.9235A>G (p.Met3079Val)
|
|
|
NM_001378454.1(ALMS1):c.9336A>T (p.Glu3112Asp)
|
rs1558667820
|
|
NM_001378454.1(ALMS1):c.9342A>C (p.Leu3114Phe)
|
rs759935236
|
|
NM_001378454.1(ALMS1):c.9377A>G (p.Gln3126Arg)
|
rs1553409872
|
|
NM_001378454.1(ALMS1):c.9404G>A (p.Ser3135Asn)
|
|
|
NM_001378454.1(ALMS1):c.9407A>G (p.Asn3136Ser)
|
|
|
NM_001378454.1(ALMS1):c.9419A>G (p.Gln3140Arg)
|
|
|
NM_001378454.1(ALMS1):c.9436C>T (p.Pro3146Ser)
|
|
|
NM_001378454.1(ALMS1):c.9499G>A (p.Gly3167Arg)
|
rs746440819
|
|
NM_001378454.1(ALMS1):c.94G>A (p.Ala32Thr)
|
|
|
NM_001378454.1(ALMS1):c.9511C>G (p.Pro3171Ala)
|
|
|
NM_001378454.1(ALMS1):c.9524C>T (p.Pro3175Leu)
|
|
|
NM_001378454.1(ALMS1):c.9527T>G (p.Val3176Gly)
|
|
|
NM_001378454.1(ALMS1):c.9572C>T (p.Ala3191Val)
|
|
|
NM_001378454.1(ALMS1):c.9605C>T (p.Thr3202Ile)
|
|
|
NM_001378454.1(ALMS1):c.9616A>G (p.Thr3206Ala)
|
rs878853092
|
|
NM_001378454.1(ALMS1):c.9659T>C (p.Ile3220Thr)
|
|
|
NM_001378454.1(ALMS1):c.9673C>T (p.Arg3225Cys)
|
rs200215551
|
|
NM_001378454.1(ALMS1):c.9677G>A (p.Gly3226Glu)
|
rs1673640308
|
|
NM_001378454.1(ALMS1):c.9738ATC[1] (p.Ser3249del)
|
|
|
NM_001378454.1(ALMS1):c.9757G>C (p.Val3253Leu)
|
|
|
NM_001378454.1(ALMS1):c.9764T>C (p.Phe3255Ser)
|
|
|
NM_001378454.1(ALMS1):c.9812C>A (p.Ser3271Tyr)
|
|
|
NM_001378454.1(ALMS1):c.986A>T (p.Glu329Val)
|
|
|
NM_001378454.1(ALMS1):c.9875A>C (p.Lys3292Thr)
|
rs959966297
|
|
NM_001378454.1(ALMS1):c.9889G>A (p.Val3297Ile)
|
|
|
NM_001378454.1(ALMS1):c.9910T>A (p.Ser3304Thr)
|
|
|
NM_001378454.1(ALMS1):c.9947T>A (p.Val3316Glu)
|
|
|
NM_001378454.1(ALMS1):c.9956C>T (p.Thr3319Ile)
|
rs2104034941
|
|
NM_001378969.1(KCND3):c.1070C>T (p.Ser357Leu)
|
rs867628133
|
|
NM_001378969.1(KCND3):c.1107-5C>A
|
|
|
NM_001378969.1(KCND3):c.1222C>T (p.Arg408Trp)
|
|
|
NM_001378969.1(KCND3):c.1223G>A (p.Arg408Gln)
|
|
|
NM_001378969.1(KCND3):c.1255C>T (p.Arg419Cys)
|
|
|
NM_001378969.1(KCND3):c.1291C>T (p.Arg431Cys)
|
rs777183510
|
|
NM_001378969.1(KCND3):c.1345C>T (p.Leu449Phe)
|
|
|
NM_001378969.1(KCND3):c.1372-4C>T
|
|
|
NM_001378969.1(KCND3):c.1376C>A (p.Thr459Asn)
|
|
|
NM_001378969.1(KCND3):c.1378C>G (p.Pro460Ala)
|
|
|
NM_001378969.1(KCND3):c.1417G>A (p.Glu473Lys)
|
|
|
NM_001378969.1(KCND3):c.1435C>A (p.Leu479Met)
|
|
|
NM_001378969.1(KCND3):c.1442A>G (p.His481Arg)
|
|
|
NM_001378969.1(KCND3):c.1485_1503del (p.Asp495fs)
|
|
|
NM_001378969.1(KCND3):c.1501C>T (p.Arg501Ter)
|
|
|
NM_001378969.1(KCND3):c.1505C>G (p.Thr502Ser)
|
|
|
NM_001378969.1(KCND3):c.1535A>C (p.Asp512Ala)
|
rs1664166577
|
|
NM_001378969.1(KCND3):c.1536T>G (p.Asp512Glu)
|
|
|
NM_001378969.1(KCND3):c.1543A>C (p.Met515Leu)
|
rs369907159
|
|
NM_001378969.1(KCND3):c.1543A>G (p.Met515Val)
|
|
|
NM_001378969.1(KCND3):c.1561A>G (p.Met521Val)
|
|
|
NM_001378969.1(KCND3):c.1564G>A (p.Glu522Lys)
|
|
|
NM_001378969.1(KCND3):c.1615C>A (p.His539Asn)
|
|
|
NM_001378969.1(KCND3):c.1622G>A (p.Gly541Asp)
|
|
|
NM_001378969.1(KCND3):c.1660A>T (p.Thr554Ser)
|
|
|
NM_001378969.1(KCND3):c.166A>G (p.Thr56Ala)
|
|
|
NM_001378969.1(KCND3):c.1673C>G (p.Pro558Arg)
|
|
|
NM_001378969.1(KCND3):c.1677T>A (p.Asn559Lys)
|
|
|
NM_001378969.1(KCND3):c.1696C>T (p.Arg566Cys)
|
|
|
NM_001378969.1(KCND3):c.170C>T (p.Thr57Met)
|
|
|
NM_001378969.1(KCND3):c.1733T>C (p.Ile578Thr)
|
|
|
NM_001378969.1(KCND3):c.1736A>C (p.Gln579Pro)
|
|
|
NM_001378969.1(KCND3):c.1749G>C (p.Gln583His)
|
|
|
NM_001378969.1(KCND3):c.1756C>G (p.Leu586Val)
|
rs778053688
|
|
NM_001378969.1(KCND3):c.1762A>G (p.Thr588Ala)
|
|
|
NM_001378969.1(KCND3):c.178C>T (p.Arg60Cys)
|
|
|
NM_001378969.1(KCND3):c.1888C>T (p.Arg630Trp)
|
|
|
NM_001378969.1(KCND3):c.1895C>G (p.Pro632Arg)
|
|
|
NM_001378969.1(KCND3):c.1897C>A (p.Pro633Thr)
|
|
|
NM_001378969.1(KCND3):c.1924A>T (p.Ile642Phe)
|
rs754759010
|
|
NM_001378969.1(KCND3):c.1942A>G (p.Asn648Asp)
|
|
|
NM_001378969.1(KCND3):c.239A>G (p.Lys80Arg)
|
|
|
NM_001378969.1(KCND3):c.295C>T (p.Arg99Cys)
|
|
|
NM_001378969.1(KCND3):c.367A>G (p.Ile123Val)
|
|
|
NM_001378969.1(KCND3):c.385G>A (p.Gly129Arg)
|
|
|
NM_001378969.1(KCND3):c.388G>A (p.Asp130Asn)
|
|
|
NM_001378969.1(KCND3):c.430G>C (p.Ala144Pro)
|
|
|
NM_001378969.1(KCND3):c.44C>T (p.Ala15Val)
|
rs866544148
|
|
NM_001378969.1(KCND3):c.460G>A (p.Glu154Lys)
|
|
|
NM_001378969.1(KCND3):c.491G>A (p.Ser164Asn)
|
|
|
NM_001378969.1(KCND3):c.497G>A (p.Arg166His)
|
|
|
NM_001378969.1(KCND3):c.506T>C (p.Met169Thr)
|
|
|
NM_001378969.1(KCND3):c.520G>A (p.Glu174Lys)
|
|
|
NM_001378969.1(KCND3):c.533C>T (p.Thr178Ile)
|
|
|
NM_001378969.1(KCND3):c.539C>T (p.Thr180Met)
|
|
|
NM_001378969.1(KCND3):c.59T>A (p.Met20Lys)
|
|
|
NM_001378969.1(KCND3):c.611C>T (p.Thr204Met)
|
rs2101997230
|
|
NM_001378969.1(KCND3):c.646C>A (p.Leu216Met)
|
|
|
NM_001378969.1(KCND3):c.647T>G (p.Leu216Arg)
|
|
|
NM_001378969.1(KCND3):c.878G>A (p.Arg293His)
|
rs1674965278
|
|
NM_001379200.1(TBX1):c.1003G>A (p.Ala335Thr)
|
|
|
NM_001379200.1(TBX1):c.100G>A (p.Gly34Arg)
|
|
|
NM_001379200.1(TBX1):c.101G>A (p.Gly34Glu)
|
|
|
NM_001379200.1(TBX1):c.1042G>A (p.Ala348Thr)
|
|
|
NM_001379200.1(TBX1):c.1065G>C (p.Gln355His)
|
|
|
NM_001379200.1(TBX1):c.1076G>A (p.Gly359Asp)
|
rs781731042
|
|
NM_001379200.1(TBX1):c.110C>T (p.Pro37Leu)
|
|
|
NM_001379200.1(TBX1):c.1112C>G (p.Pro371Arg)
|
|
|
NM_001379200.1(TBX1):c.1118T>A (p.Leu373Gln)
|
|
|
NM_001379200.1(TBX1):c.1148C>A (p.Pro383His)
|
rs953761540
|
|
NM_001379200.1(TBX1):c.1150_1152delinsAGGGCCGGCGGC (p.Pro383_Gly384insArgAlaGly)
|
rs1555896709
|
|
NM_001379200.1(TBX1):c.115G>T (p.Ala39Ser)
|
|
|
NM_001379200.1(TBX1):c.1177C>T (p.Pro393Ser)
|
rs1936852709
|
|
NM_001379200.1(TBX1):c.1202G>A (p.Arg401Gln)
|
rs1270901790
|
|
NM_001379200.1(TBX1):c.1210C>A (p.Pro404Thr)
|
|
|
NM_001379200.1(TBX1):c.1210C>T (p.Pro404Ser)
|
|
|
NM_001379200.1(TBX1):c.121T>C (p.Ser41Pro)
|
|
|
NM_001379200.1(TBX1):c.121T>G (p.Ser41Ala)
|
|
|
NM_001379200.1(TBX1):c.1222G>C (p.Glu408Gln)
|
|
|
NM_001379200.1(TBX1):c.1228C>A (p.Arg410Ser)
|
|
|
NM_001379200.1(TBX1):c.1247C>T (p.Ala416Val)
|
|
|
NM_001379200.1(TBX1):c.1273T>C (p.Tyr425His)
|
rs1243986502
|
|
NM_001379200.1(TBX1):c.1289C>T (p.Ala430Val)
|
|
|
NM_001379200.1(TBX1):c.1301A>G (p.His434Arg)
|
|
|
NM_001379200.1(TBX1):c.1312G>T (p.Ala438Ser)
|
|
|
NM_001379200.1(TBX1):c.1320C>G (p.Ser440Arg)
|
rs2145838985
|
|
NM_001379200.1(TBX1):c.1343C>A (p.Pro448His)
|
|
|
NM_001379200.1(TBX1):c.134A>C (p.Asp45Ala)
|
|
|
NM_001379200.1(TBX1):c.1352G>T (p.Arg451Leu)
|
|
|
NM_001379200.1(TBX1):c.1360G>C (p.Gly454Arg)
|
|
|
NM_001379200.1(TBX1):c.1421C>G (p.Ala474Gly)
|
|
|
NM_001379200.1(TBX1):c.1421C>T (p.Ala474Val)
|
|
|
NM_001379200.1(TBX1):c.1429G>C (p.Ala477Pro)
|
|
|
NM_001379200.1(TBX1):c.1430C>G (p.Ala477Gly)
|
|
|
NM_001379200.1(TBX1):c.1432G>C (p.Ala478Pro)
|
|
|
NM_001379200.1(TBX1):c.1447G>T (p.Ala483Ser)
|
|
|
NM_001379200.1(TBX1):c.1456A>G (p.Asn486Asp)
|
|
|
NM_001379200.1(TBX1):c.145C>G (p.Pro49Ala)
|
|
|
NM_001379200.1(TBX1):c.1502A>G (p.Tyr501Cys)
|
|
|
NM_001379200.1(TBX1):c.1511G>A (p.Arg504Lys)
|
|
|
NM_001379200.1(TBX1):c.152A>C (p.Glu51Ala)
|
|
|
NM_001379200.1(TBX1):c.158CGC[6] (p.Pro57dup)
|
rs886038791
|
|
NM_001379200.1(TBX1):c.170C>G (p.Pro57Arg)
|
|
|
NM_001379200.1(TBX1):c.190G>C (p.Ala64Pro)
|
|
|
NM_001379200.1(TBX1):c.196G>T (p.Ala66Ser)
|
|
|
NM_001379200.1(TBX1):c.200C>A (p.Pro67His)
|
|
|
NM_001379200.1(TBX1):c.202G>A (p.Gly68Ser)
|
|
|
NM_001379200.1(TBX1):c.208C>T (p.Pro70Ser)
|
|
|
NM_001379200.1(TBX1):c.209C>T (p.Pro70Leu)
|
|
|
NM_001379200.1(TBX1):c.215C>T (p.Pro72Leu)
|
|
|
NM_001379200.1(TBX1):c.218C>G (p.Pro73Arg)
|
|
|
NM_001379200.1(TBX1):c.221C>G (p.Pro74Arg)
|
|
|
NM_001379200.1(TBX1):c.226C>G (p.Pro76Ala)
|
|
|
NM_001379200.1(TBX1):c.230A>C (p.His77Pro)
|
|
|
NM_001379200.1(TBX1):c.232G>A (p.Ala78Thr)
|
rs1028072654
|
|
NM_001379200.1(TBX1):c.233C>G (p.Ala78Gly)
|
|
|
NM_001379200.1(TBX1):c.233C>T (p.Ala78Val)
|
|
|
NM_001379200.1(TBX1):c.262G>A (p.Ala88Thr)
|
|
|
NM_001379200.1(TBX1):c.301A>G (p.Ser101Gly)
|
|
|
NM_001379200.1(TBX1):c.311C>T (p.Ala104Val)
|
|
|
NM_001379200.1(TBX1):c.323C>A (p.Ala108Glu)
|
|
|
NM_001379200.1(TBX1):c.341C>A (p.Ala114Glu)
|
|
|
NM_001379200.1(TBX1):c.361G>A (p.Val121Met)
|
|
|
NM_001379200.1(TBX1):c.370G>C (p.Glu124Gln)
|
|
|
NM_001379200.1(TBX1):c.409A>G (p.Thr137Ala)
|
|
|
NM_001379200.1(TBX1):c.465G>C (p.Lys155Asn)
|
|
|
NM_001379200.1(TBX1):c.532C>T (p.Arg178Cys)
|
|
|
NM_001379200.1(TBX1):c.598G>A (p.Gly200Ser)
|
|
|
NM_001379200.1(TBX1):c.604G>A (p.Val202Met)
|
|
|
NM_001379200.1(TBX1):c.70G>A (p.Ala24Thr)
|
rs965143242
|
|
NM_001379200.1(TBX1):c.76A>G (p.Ser26Gly)
|
|
|
NM_001379200.1(TBX1):c.78C>G (p.Ser26Arg)
|
|
|
NM_001379200.1(TBX1):c.814T>A (p.Phe272Ile)
|
|
|
NM_001379200.1(TBX1):c.822C>A (p.Phe274Leu)
|
|
|
NM_001379200.1(TBX1):c.823G>C (p.Glu275Gln)
|
|
|
NM_001379200.1(TBX1):c.82A>C (p.Ser28Arg)
|
|
|
NM_001379200.1(TBX1):c.83G>T (p.Ser28Ile)
|
|
|
NM_001379200.1(TBX1):c.85A>G (p.Ser29Gly)
|
|
|
NM_001379200.1(TBX1):c.87C>G (p.Ser29Arg)
|
|
|
NM_001379200.1(TBX1):c.946C>T (p.His316Tyr)
|
|
|
NM_001379200.1(TBX1):c.961C>G (p.Leu321Val)
|
|
|
NM_001379200.1(TBX1):c.98C>T (p.Ala33Val)
|
|
|
NM_001458.5(FLNC):c.-2G>A
|
|
|
NM_001458.5(FLNC):c.1000C>T (p.Arg334Cys)
|
rs372497581
|
|
NM_001458.5(FLNC):c.1081C>G (p.Arg361Gly)
|
|
|
NM_001458.5(FLNC):c.1102G>C (p.Val368Leu)
|
rs781718076
|
|
NM_001458.5(FLNC):c.1123G>A (p.Ala375Thr)
|
rs747623981
|
|
NM_001458.5(FLNC):c.113A>T (p.Gln38Leu)
|
rs1585147708
|
|
NM_001458.5(FLNC):c.1142G>C (p.Arg381Pro)
|
|
|
NM_001458.5(FLNC):c.1156G>C (p.Glu386Gln)
|
rs1204536261
|
|
NM_001458.5(FLNC):c.1208C>A (p.Ala403Glu)
|
rs777199447
|
|
NM_001458.5(FLNC):c.1210+5G>A
|
rs770923888
|
|
NM_001458.5(FLNC):c.1242C>G (p.Ile414Met)
|
|
|
NM_001458.5(FLNC):c.125T>G (p.Phe42Cys)
|
rs777706683
|
|
NM_001458.5(FLNC):c.1295G>A (p.Gly432Asp)
|
|
|
NM_001458.5(FLNC):c.1306T>C (p.Phe436Leu)
|
|
|
NM_001458.5(FLNC):c.1309C>G (p.Arg437Gly)
|
rs374847180
|
|
NM_001458.5(FLNC):c.1382G>T (p.Arg461Leu)
|
rs377587489
|
|
NM_001458.5(FLNC):c.1412-1G>A
|
|
|
NM_001458.5(FLNC):c.1438T>C (p.Ser480Pro)
|
|
|
NM_001458.5(FLNC):c.1448G>A (p.Gly483Asp)
|
rs1562993476
|
|
NM_001458.5(FLNC):c.1491C>A (p.Phe497Leu)
|
|
|
NM_001458.5(FLNC):c.1499T>C (p.Phe500Ser)
|
rs2128934879
|
|
NM_001458.5(FLNC):c.1502C>T (p.Thr501Ile)
|
rs794727967
|
|
NM_001458.5(FLNC):c.1508G>T (p.Gly503Val)
|
rs1483134760
|
|
NM_001458.5(FLNC):c.1523A>C (p.Glu508Ala)
|
|
|
NM_001458.5(FLNC):c.1548_1549+2del
|
rs763330423
|
|
NM_001458.5(FLNC):c.1549+2T>A
|
|
|
NM_001458.5(FLNC):c.1549+5G>A
|
|
|
NM_001458.5(FLNC):c.1556C>G (p.Thr519Arg)
|
|
|
NM_001458.5(FLNC):c.1582G>A (p.Ala528Thr)
|
|
|
NM_001458.5(FLNC):c.1585G>A (p.Gly529Arg)
|
|
|
NM_001458.5(FLNC):c.1628G>A (p.Gly543Glu)
|
rs1221769888
|
|
NM_001458.5(FLNC):c.166C>G (p.Arg56Gly)
|
|
|
NM_001458.5(FLNC):c.1673G>A (p.Arg558His)
|
rs776881635
|
|
NM_001458.5(FLNC):c.1673G>T (p.Arg558Leu)
|
rs776881635
|
|
NM_001458.5(FLNC):c.1688T>C (p.Val563Ala)
|
rs774963796
|
|
NM_001458.5(FLNC):c.1692G>C (p.Gln564His)
|
|
|
NM_001458.5(FLNC):c.1735C>A (p.Pro579Thr)
|
rs1808303402
|
|
NM_001458.5(FLNC):c.1748C>T (p.Thr583Ile)
|
rs2128935128
|
|
NM_001458.5(FLNC):c.184C>A (p.Arg62Ser)
|
|
|
NM_001458.5(FLNC):c.1853G>A (p.Cys618Tyr)
|
|
|
NM_001458.5(FLNC):c.1858G>A (p.Asp620Asn)
|
rs567514134
|
|
NM_001458.5(FLNC):c.187G>T (p.Asp63Tyr)
|
|
|
NM_001458.5(FLNC):c.1900G>C (p.Glu634Gln)
|
|
|
NM_001458.5(FLNC):c.1922A>G (p.His641Arg)
|
|
|
NM_001458.5(FLNC):c.1931G>A (p.Cys644Tyr)
|
|
|
NM_001458.5(FLNC):c.1935_1937del (p.Asp646del)
|
rs765300084
|
|
NM_001458.5(FLNC):c.193A>G (p.Ser65Gly)
|
|
|
NM_001458.5(FLNC):c.1949G>A (p.Arg650Gln)
|
|
|
NM_001458.5(FLNC):c.1994G>A (p.Cys665Tyr)
|
|
|
NM_001458.5(FLNC):c.2008G>T (p.Val670Leu)
|
|
|
NM_001458.5(FLNC):c.200G>T (p.Gly67Val)
|
rs1807857687
|
|
NM_001458.5(FLNC):c.2050G>C (p.Val684Leu)
|
rs769221710
|
|
NM_001458.5(FLNC):c.2062G>T (p.Ala688Ser)
|
rs774194364
|
|
NM_001458.5(FLNC):c.2084G>C (p.Arg695Pro)
|
rs766592492
|
|
NM_001458.5(FLNC):c.2084G>T (p.Arg695Leu)
|
rs766592492
|
|
NM_001458.5(FLNC):c.2092G>A (p.Gly698Ser)
|
rs1461903090
|
|
NM_001458.5(FLNC):c.2093G>T (p.Gly698Val)
|
|
|
NM_001458.5(FLNC):c.2108A>G (p.Lys703Arg)
|
rs753914864
|
|
NM_001458.5(FLNC):c.212T>C (p.Ile71Thr)
|
rs1554396387
|
|
NM_001458.5(FLNC):c.2131G>A (p.Gly711Ser)
|
|
|
NM_001458.5(FLNC):c.2134T>G (p.Cys712Gly)
|
|
|
NM_001458.5(FLNC):c.2140A>G (p.Ile714Val)
|
|
|
NM_001458.5(FLNC):c.2143G>A (p.Asp715Asn)
|
|
|
NM_001458.5(FLNC):c.2167G>A (p.Asp723Asn)
|
rs375414341
|
|
NM_001458.5(FLNC):c.2189A>G (p.Tyr730Cys)
|
|
|
NM_001458.5(FLNC):c.2202G>C (p.Lys734Asn)
|
rs769984017
|
|
NM_001458.5(FLNC):c.2227T>C (p.Ser743Pro)
|
|
|
NM_001458.5(FLNC):c.2228C>T (p.Ser743Phe)
|
|
|
NM_001458.5(FLNC):c.224A>T (p.Glu75Val)
|
|
|
NM_001458.5(FLNC):c.2300T>A (p.Val767Glu)
|
|
|
NM_001458.5(FLNC):c.2318G>A (p.Gly773Glu)
|
|
|
NM_001458.5(FLNC):c.2348A>G (p.Glu783Gly)
|
|
|
NM_001458.5(FLNC):c.2371T>G (p.Cys791Gly)
|
|
|
NM_001458.5(FLNC):c.2459A>T (p.Asp820Val)
|
rs886044638
|
|
NM_001458.5(FLNC):c.245T>A (p.Met82Lys)
|
rs1807859917
|
|
NM_001458.5(FLNC):c.245T>C (p.Met82Thr)
|
|
|
NM_001458.5(FLNC):c.2470A>T (p.Asn824Tyr)
|
rs1562995383
|
|
NM_001458.5(FLNC):c.2478C>A (p.Asn826Lys)
|
|
|
NM_001458.5(FLNC):c.2492T>G (p.Val831Gly)
|
|
|
NM_001458.5(FLNC):c.2506C>T (p.Pro836Ser)
|
rs1422445527
|
|
NM_001458.5(FLNC):c.251G>T (p.Arg84Leu)
|
|
|
NM_001458.5(FLNC):c.2524A>G (p.Thr842Ala)
|
|
|
NM_001458.5(FLNC):c.2533G>C (p.Val845Leu)
|
|
|
NM_001458.5(FLNC):c.2553G>T (p.Glu851Asp)
|
|
|
NM_001458.5(FLNC):c.2573A>G (p.His858Arg)
|
|
|
NM_001458.5(FLNC):c.2665C>T (p.His889Tyr)
|
|
|
NM_001458.5(FLNC):c.2703G>T (p.Lys901Asn)
|
rs1554398845
|
|
NM_001458.5(FLNC):c.2710G>T (p.Val904Leu)
|
|
|
NM_001458.5(FLNC):c.273C>A (p.Asn91Lys)
|
rs1807861563
|
|
NM_001458.5(FLNC):c.2747G>T (p.Arg916Leu)
|
rs143720860
|
|
NM_001458.5(FLNC):c.2774A>T (p.Asp925Val)
|
|
|
NM_001458.5(FLNC):c.2803G>C (p.Val935Leu)
|
|
|
NM_001458.5(FLNC):c.2811+3G>A
|
|
|
NM_001458.5(FLNC):c.2869G>A (p.Val957Met)
|
|
|
NM_001458.5(FLNC):c.2900G>A (p.Ser967Asn)
|
|
|
NM_001458.5(FLNC):c.2911G>C (p.Val971Leu)
|
rs548199973
|
|
NM_001458.5(FLNC):c.292G>A (p.Glu98Lys)
|
rs1195481399
|
|
NM_001458.5(FLNC):c.2953G>A (p.Ala985Thr)
|
rs1179474749
|
|
NM_001458.5(FLNC):c.2972G>A (p.Arg991Gln)
|
|
|
NM_001458.5(FLNC):c.2995C>G (p.Leu999Val)
|
|
|
NM_001458.5(FLNC):c.301T>A (p.Ser101Thr)
|
|
|
NM_001458.5(FLNC):c.301T>C (p.Ser101Pro)
|
|
|
NM_001458.5(FLNC):c.301_302delinsAA (p.Ser101Asn)
|
rs2128932233
|
|
NM_001458.5(FLNC):c.3055G>T (p.Gly1019Cys)
|
rs200864007
|
|
NM_001458.5(FLNC):c.3064G>A (p.Glu1022Lys)
|
|
|
NM_001458.5(FLNC):c.3089C>G (p.Pro1030Arg)
|
rs2128936198
|
|
NM_001458.5(FLNC):c.3092C>T (p.Pro1031Leu)
|
rs372467579
|
|
NM_001458.5(FLNC):c.3096G>C (p.Glu1032Asp)
|
|
|
NM_001458.5(FLNC):c.3104C>T (p.Pro1035Leu)
|
|
|
NM_001458.5(FLNC):c.3114G>A (p.Val1038=)
|
rs376516180
|
|
NM_001458.5(FLNC):c.3122C>G (p.Thr1041Ser)
|
|
|
NM_001458.5(FLNC):c.3135C>A (p.His1045Gln)
|
rs988307328
|
|
NM_001458.5(FLNC):c.3193-2A>G
|
rs749889670
|
|
NM_001458.5(FLNC):c.31G>T (p.Gly11Cys)
|
rs370512642
|
|
NM_001458.5(FLNC):c.3247T>C (p.Phe1083Leu)
|
rs1354409050
|
|
NM_001458.5(FLNC):c.3275C>A (p.Thr1092Lys)
|
rs1405189650
|
|
NM_001458.5(FLNC):c.3278G>A (p.Gly1093Asp)
|
rs1374868566
|
|
NM_001458.5(FLNC):c.330G>C (p.Glu110Asp)
|
|
|
NM_001458.5(FLNC):c.3421C>T (p.Pro1141Ser)
|
|
|
NM_001458.5(FLNC):c.3448C>T (p.Arg1150Trp)
|
rs779184516
|
|
NM_001458.5(FLNC):c.3465G>A (p.Pro1155=)
|
rs374686347
|
|
NM_001458.5(FLNC):c.3465_3467delinsAAA (p.Ser1156Asn)
|
|
|
NM_001458.5(FLNC):c.3472G>T (p.Val1158Leu)
|
|
|
NM_001458.5(FLNC):c.3475C>G (p.Arg1159Gly)
|
rs760500171
|
|
NM_001458.5(FLNC):c.3481A>G (p.Ser1161Gly)
|
|
|
NM_001458.5(FLNC):c.3538T>C (p.Cys1180Arg)
|
|
|
NM_001458.5(FLNC):c.3581C>T (p.Ser1194Leu)
|
rs773481064
|
|
NM_001458.5(FLNC):c.3583G>C (p.Asp1195His)
|
|
|
NM_001458.5(FLNC):c.3602A>T (p.Glu1201Val)
|
|
|
NM_001458.5(FLNC):c.3610A>T (p.Ile1204Phe)
|
|
|
NM_001458.5(FLNC):c.365T>C (p.Ile122Thr)
|
rs2128933606
|
|
NM_001458.5(FLNC):c.367G>C (p.Val123Leu)
|
|
|
NM_001458.5(FLNC):c.3703G>A (p.Val1235Met)
|
rs1208885010
|
|
NM_001458.5(FLNC):c.3711A>C (p.Lys1237Asn)
|
rs758220780
|
|
NM_001458.5(FLNC):c.3713T>C (p.Phe1238Ser)
|
rs777798089
|
|
NM_001458.5(FLNC):c.3714C>A (p.Phe1238Leu)
|
|
|
NM_001458.5(FLNC):c.3716C>T (p.Pro1239Leu)
|
|
|
NM_001458.5(FLNC):c.3778G>A (p.Val1260Ile)
|
|
|
NM_001458.5(FLNC):c.3790+1G>A
|
|
|
NM_001458.5(FLNC):c.3791-2A>T
|
|
|
NM_001458.5(FLNC):c.3794T>G (p.Val1265Gly)
|
|
|
NM_001458.5(FLNC):c.3799C>T (p.Arg1267Trp)
|
rs371483562
|
|
NM_001458.5(FLNC):c.3862G>C (p.Val1288Leu)
|
rs750415476
|
|
NM_001458.5(FLNC):c.3881A>T (p.Asn1294Ile)
|
rs944103680
|
|
NM_001458.5(FLNC):c.3888G>A (p.Ser1296=)
|
|
|
NM_001458.5(FLNC):c.391C>A (p.Leu131Met)
|
|
|
NM_001458.5(FLNC):c.3952G>A (p.Ala1318Thr)
|
rs777939926
|
|
NM_001458.5(FLNC):c.3952G>T (p.Ala1318Ser)
|
rs777939926
|
|
NM_001458.5(FLNC):c.3953C>T (p.Ala1318Val)
|
|
|
NM_001458.5(FLNC):c.3965G>A (p.Gly1322Asp)
|
|
|
NM_001458.5(FLNC):c.3989A>G (p.Tyr1330Cys)
|
|
|
NM_001458.5(FLNC):c.4034C>G (p.Thr1345Ser)
|
|
|
NM_001458.5(FLNC):c.4054C>A (p.Arg1352Ser)
|
|
|
NM_001458.5(FLNC):c.4055G>T (p.Arg1352Leu)
|
rs746731567
|
|
NM_001458.5(FLNC):c.4129G>C (p.Gly1377Arg)
|
|
|
NM_001458.5(FLNC):c.4156G>A (p.Ala1386Thr)
|
|
|
NM_001458.5(FLNC):c.4159A>G (p.Ile1387Val)
|
rs1032003580
|
|
NM_001458.5(FLNC):c.4166G>T (p.Gly1389Val)
|
|
|
NM_001458.5(FLNC):c.4181A>G (p.Lys1394Arg)
|
|
|
NM_001458.5(FLNC):c.4193A>G (p.Lys1398Arg)
|
|
|
NM_001458.5(FLNC):c.4201A>G (p.Lys1401Glu)
|
|
|
NM_001458.5(FLNC):c.4250A>G (p.Tyr1417Cys)
|
|
|
NM_001458.5(FLNC):c.4255G>C (p.Val1419Leu)
|
|
|
NM_001458.5(FLNC):c.4276C>T (p.Arg1426Trp)
|
|
|
NM_001458.5(FLNC):c.4277G>A (p.Arg1426Gln)
|
|
|
NM_001458.5(FLNC):c.4289-5C>T
|
|
|
NM_001458.5(FLNC):c.4299C>A (p.Phe1433Leu)
|
|
|
NM_001458.5(FLNC):c.4301G>A (p.Arg1434His)
|
rs143623535
|
|
NM_001458.5(FLNC):c.4301G>T (p.Arg1434Leu)
|
rs143623535
|
|
NM_001458.5(FLNC):c.4303G>C (p.Val1435Leu)
|
|
|
NM_001458.5(FLNC):c.4363G>A (p.Ala1455Thr)
|
|
|
NM_001458.5(FLNC):c.4366G>A (p.Gly1456Ser)
|
|
|
NM_001458.5(FLNC):c.4391C>T (p.Thr1464Ile)
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|
|
NM_001458.5(FLNC):c.4415C>T (p.Ala1472Val)
|
|
|
NM_001458.5(FLNC):c.4441G>A (p.Val1481Met)
|
|
|
NM_001458.5(FLNC):c.4456+1G>T
|
|
|
NM_001458.5(FLNC):c.4457G>C (p.Gly1486Ala)
|
|
|
NM_001458.5(FLNC):c.4507G>A (p.Val1503Ile)
|
|
|
NM_001458.5(FLNC):c.4516A>G (p.Thr1506Ala)
|
rs771974318
|
|
NM_001458.5(FLNC):c.4517C>G (p.Thr1506Ser)
|
rs1808634430
|
|
NM_001458.5(FLNC):c.460G>A (p.Glu154Lys)
|
|
|
NM_001458.5(FLNC):c.4697C>T (p.Ala1566Val)
|
|
|
NM_001458.5(FLNC):c.470G>T (p.Arg157Leu)
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|
|
NM_001458.5(FLNC):c.4746G>A (p.Glu1582=)
|
|
|
NM_001458.5(FLNC):c.4747G>A (p.Gly1583Ser)
|
rs2128937618
|
|
NM_001458.5(FLNC):c.4761G>T (p.Lys1587Asn)
|
|
|
NM_001458.5(FLNC):c.4774G>A (p.Asp1592Asn)
|
|
|
NM_001458.5(FLNC):c.4825C>G (p.Arg1609Gly)
|
rs374756527
|
|
NM_001458.5(FLNC):c.4832C>T (p.Thr1611Ile)
|
rs1025308371
|
|
NM_001458.5(FLNC):c.4858G>A (p.Glu1620Lys)
|
rs1808685152
|
|
NM_001458.5(FLNC):c.4931C>G (p.Ser1644Cys)
|
rs1808699932
|
|
NM_001458.5(FLNC):c.4951+2T>C
|
rs1585164316
|
|
NM_001458.5(FLNC):c.5035A>G (p.Thr1679Ala)
|
|
|
NM_001458.5(FLNC):c.5042C>T (p.Thr1681Met)
|
rs193159707
|
|
NM_001458.5(FLNC):c.5111T>G (p.Ile1704Ser)
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|
|
NM_001458.5(FLNC):c.5165G>A (p.Gly1722Asp)
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|
|
NM_001458.5(FLNC):c.5194G>A (p.Val1732Met)
|
rs374848954
|
|
NM_001458.5(FLNC):c.5208C>A (p.Asp1736Glu)
|
rs1291689149
|
|
NM_001458.5(FLNC):c.5248C>A (p.Leu1750Met)
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|
|
NM_001458.5(FLNC):c.5262C>A (p.Tyr1754Ter)
|
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NM_001458.5(FLNC):c.5287C>A (p.Pro1763Thr)
|
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NM_001458.5(FLNC):c.5363T>G (p.Val1788Gly)
|
rs573899913
|
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NM_001458.5(FLNC):c.5411T>G (p.Met1804Arg)
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|
|
NM_001458.5(FLNC):c.5448CAA[1] (p.Asn1817del)
|
rs1312829675
|
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NM_001458.5(FLNC):c.5449A>C (p.Asn1817His)
|
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NM_001458.5(FLNC):c.5464A>G (p.Ile1822Val)
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NM_001458.5(FLNC):c.5465T>G (p.Ile1822Ser)
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NM_001458.5(FLNC):c.5483C>G (p.Pro1828Arg)
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|
NM_001458.5(FLNC):c.5503C>A (p.Gln1835Lys)
|
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|
NM_001458.5(FLNC):c.5504A>C (p.Gln1835Pro)
|
|
|
NM_001458.5(FLNC):c.5506A>C (p.Met1836Leu)
|
rs1808780678
|
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NM_001458.5(FLNC):c.5537C>T (p.Pro1846Leu)
|
rs1408298919
|
|
NM_001458.5(FLNC):c.5546C>A (p.Pro1849His)
|
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NM_001458.5(FLNC):c.5566G>A (p.Ala1856Thr)
|
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NM_001458.5(FLNC):c.5579G>C (p.Arg1860Pro)
|
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NM_001458.5(FLNC):c.5587A>G (p.Ser1863Gly)
|
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|
NM_001458.5(FLNC):c.5624A>G (p.Asn1875Ser)
|
rs1808801761
|
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NM_001458.5(FLNC):c.5645T>C (p.Ile1882Thr)
|
|
|
NM_001458.5(FLNC):c.5659G>A (p.Ala1887Thr)
|
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NM_001458.5(FLNC):c.5668+3G>A
|
rs1563001474
|
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NM_001458.5(FLNC):c.5724C>A (p.Asp1908Glu)
|
rs2128938449
|
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NM_001458.5(FLNC):c.5738C>T (p.Thr1913Ile)
|
|
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NM_001458.5(FLNC):c.5770G>A (p.Gly1924Arg)
|
rs1585166739
|
|
NM_001458.5(FLNC):c.5777A>G (p.Tyr1926Cys)
|
rs376653815
|
|
NM_001458.5(FLNC):c.5792G>T (p.Arg1931Leu)
|
rs780685346
|
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NM_001458.5(FLNC):c.5816G>A (p.Gly1939Glu)
|
|
|
NM_001458.5(FLNC):c.5821C>T (p.Pro1941Ser)
|
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|
NM_001458.5(FLNC):c.5843-2A>G
|
rs1808866340
|
|
NM_001458.5(FLNC):c.5947G>T (p.Ala1983Ser)
|
|
|
NM_001458.5(FLNC):c.5995C>T (p.Arg1999Trp)
|
rs746182820
|
|
NM_001458.5(FLNC):c.5999A>C (p.His2000Pro)
|
rs572095826
|
|
NM_001458.5(FLNC):c.6002T>C (p.Ile2001Thr)
|
rs1554400940
|
|
NM_001458.5(FLNC):c.6011C>T (p.Ser2004Phe)
|
|
|
NM_001458.5(FLNC):c.6017C>T (p.Thr2006Ile)
|
|
|
NM_001458.5(FLNC):c.601G>A (p.Gly201Ser)
|
rs1808062939
|
|
NM_001458.5(FLNC):c.6039C>A (p.His2013Gln)
|
|
|
NM_001458.5(FLNC):c.6074C>T (p.Thr2025Ile)
|
rs767695121
|
|
NM_001458.5(FLNC):c.6080G>C (p.Ser2027Thr)
|
|
|
NM_001458.5(FLNC):c.6112A>C (p.Ile2038Leu)
|
rs2128938907
|
|
NM_001458.5(FLNC):c.611C>T (p.Pro204Leu)
|
|
|
NM_001458.5(FLNC):c.6121G>A (p.Ala2041Thr)
|
rs745842738
|
|
NM_001458.5(FLNC):c.6125G>T (p.Ser2042Ile)
|
|
|
NM_001458.5(FLNC):c.6147G>T (p.Lys2049Asn)
|
|
|
NM_001458.5(FLNC):c.6160G>A (p.Gly2054Arg)
|
rs1808887627
|
|
NM_001458.5(FLNC):c.6199C>T (p.Arg2067Cys)
|
rs754160175
|
|
NM_001458.5(FLNC):c.6208+1G>A
|
|
|
NM_001458.5(FLNC):c.6217G>A (p.Gly2073Ser)
|
|
|
NM_001458.5(FLNC):c.6249G>C (p.Lys2083Asn)
|
|
|
NM_001458.5(FLNC):c.6250G>A (p.Val2084Met)
|
|
|
NM_001458.5(FLNC):c.6262T>C (p.Cys2088Arg)
|
|
|
NM_001458.5(FLNC):c.6329T>A (p.Ile2110Asn)
|
|
|
NM_001458.5(FLNC):c.6346G>A (p.Asp2116Asn)
|
|
|
NM_001458.5(FLNC):c.6346G>C (p.Asp2116His)
|
|
|
NM_001458.5(FLNC):c.6348C>G (p.Asp2116Glu)
|
|
|
NM_001458.5(FLNC):c.6361+5G>A
|
rs1808919247
|
|
NM_001458.5(FLNC):c.6374C>G (p.Thr2125Ser)
|
rs371455516
|
|
NM_001458.5(FLNC):c.6397C>A (p.Arg2133Ser)
|
|
|
NM_001458.5(FLNC):c.6397C>T (p.Arg2133Cys)
|
rs1186464414
|
|
NM_001458.5(FLNC):c.6403A>G (p.Lys2135Glu)
|
|
|
NM_001458.5(FLNC):c.6421C>T (p.Arg2141Trp)
|
rs1808926604
|
|
NM_001458.5(FLNC):c.6445A>G (p.Thr2149Ala)
|
|
|
NM_001458.5(FLNC):c.6502G>C (p.Val2168Leu)
|
|
|
NM_001458.5(FLNC):c.6517C>G (p.Arg2173Gly)
|
|
|
NM_001458.5(FLNC):c.6518G>A (p.Arg2173His)
|
|
|
NM_001458.5(FLNC):c.6539G>A (p.Arg2180His)
|
rs1554401209
|
|
NM_001458.5(FLNC):c.6539G>C (p.Arg2180Pro)
|
rs1554401209
|
|
NM_001458.5(FLNC):c.6541A>G (p.Ser2181Gly)
|
|
|
NM_001458.5(FLNC):c.6541AGC[1] (p.Ser2182del)
|
|
|
NM_001458.5(FLNC):c.6571A>C (p.Thr2191Pro)
|
|
|
NM_001458.5(FLNC):c.6604A>C (p.Lys2202Gln)
|
|
|
NM_001458.5(FLNC):c.6616C>A (p.Arg2206=)
|
|
|
NM_001458.5(FLNC):c.6616C>T (p.Arg2206Trp)
|
rs867032077
|
|
NM_001458.5(FLNC):c.6617G>A (p.Arg2206Gln)
|
rs781671804
|
|
NM_001458.5(FLNC):c.6622G>A (p.Glu2208Lys)
|
|
|
NM_001458.5(FLNC):c.6665T>C (p.Phe2222Ser)
|
rs1554401281
|
|
NM_001458.5(FLNC):c.6702C>G (p.Phe2234Leu)
|
rs370589662
|
|
NM_001458.5(FLNC):c.6713C>A (p.Thr2238Asn)
|
|
|
NM_001458.5(FLNC):c.6748A>G (p.Met2250Val)
|
|
|
NM_001458.5(FLNC):c.6791_6796dup (p.Glu2265_Ile2266insThrGlu)
|
|
|
NM_001458.5(FLNC):c.6799G>A (p.Val2267Ile)
|
rs758080422
|
|
NM_001458.5(FLNC):c.6809A>T (p.Glu2270Val)
|
rs780658670
|
|
NM_001458.5(FLNC):c.6826G>A (p.Val2276Met)
|
rs1207179287
|
|
NM_001458.5(FLNC):c.6860C>T (p.Thr2287Met)
|
rs1434865362
|
|
NM_001458.5(FLNC):c.6862G>C (p.Val2288Leu)
|
rs953084143
|
|
NM_001458.5(FLNC):c.6901C>T (p.Pro2301Ser)
|
|
|
NM_001458.5(FLNC):c.6929G>A (p.Gly2310Asp)
|
|
|
NM_001458.5(FLNC):c.6989G>A (p.Gly2330Asp)
|
|
|
NM_001458.5(FLNC):c.6991G>T (p.Val2331Leu)
|
rs191288058
|
|
NM_001458.5(FLNC):c.7018C>T (p.Arg2340Trp)
|
rs2128939610
|
|
NM_001458.5(FLNC):c.7019G>A (p.Arg2340Gln)
|
|
|
NM_001458.5(FLNC):c.7028G>C (p.Gly2343Ala)
|
|
|
NM_001458.5(FLNC):c.7070C>T (p.Ala2357Val)
|
rs765841097
|
|
NM_001458.5(FLNC):c.707C>T (p.Ala236Val)
|
rs771789906
|
|
NM_001458.5(FLNC):c.7118A>G (p.Tyr2373Cys)
|
|
|
NM_001458.5(FLNC):c.7214C>T (p.Ser2405Leu)
|
rs2128939759
|
|
NM_001458.5(FLNC):c.7272C>T (p.Asn2424=)
|
|
|
NM_001458.5(FLNC):c.7294C>A (p.Gln2432Lys)
|
|
|
NM_001458.5(FLNC):c.7318A>T (p.Ile2440Phe)
|
|
|
NM_001458.5(FLNC):c.7327C>T (p.Arg2443Trp)
|
rs1585171621
|
|
NM_001458.5(FLNC):c.733G>A (p.Val245Met)
|
|
|
NM_001458.5(FLNC):c.7351G>A (p.Val2451Met)
|
|
|
NM_001458.5(FLNC):c.736G>A (p.Asp246Asn)
|
|
|
NM_001458.5(FLNC):c.7385-4A>G
|
|
|
NM_001458.5(FLNC):c.7387A>G (p.Lys2463Glu)
|
|
|
NM_001458.5(FLNC):c.7408C>G (p.Pro2470Ala)
|
|
|
NM_001458.5(FLNC):c.7409C>T (p.Pro2470Leu)
|
|
|
NM_001458.5(FLNC):c.7414G>A (p.Glu2472Lys)
|
rs948675422
|
|
NM_001458.5(FLNC):c.7459A>G (p.Ile2487Val)
|
|
|
NM_001458.5(FLNC):c.7471C>A (p.Pro2491Thr)
|
|
|
NM_001458.5(FLNC):c.7486G>A (p.Val2496Ile)
|
rs200295337
|
|
NM_001458.5(FLNC):c.7486G>T (p.Val2496Phe)
|
rs200295337
|
|
NM_001458.5(FLNC):c.7490G>C (p.Gly2497Ala)
|
|
|
NM_001458.5(FLNC):c.7510G>A (p.Asp2504Asn)
|
|
|
NM_001458.5(FLNC):c.7561G>C (p.Gly2521Arg)
|
|
|
NM_001458.5(FLNC):c.7596T>A (p.Asn2532Lys)
|
rs377522797
|
|
NM_001458.5(FLNC):c.7597G>C (p.Ala2533Pro)
|
|
|
NM_001458.5(FLNC):c.7630G>A (p.Gly2544Ser)
|
rs2128940366
|
|
NM_001458.5(FLNC):c.7636T>A (p.Ser2546Thr)
|
rs200673841
|
|
NM_001458.5(FLNC):c.76A>G (p.Lys26Glu)
|
rs1562988843
|
|
NM_001458.5(FLNC):c.7709A>C (p.Asn2570Thr)
|
|
|
NM_001458.5(FLNC):c.7748T>C (p.Ile2583Thr)
|
|
|
NM_001458.5(FLNC):c.7772A>G (p.Lys2591Arg)
|
|
|
NM_001458.5(FLNC):c.7781G>A (p.Gly2594Asp)
|
|
|
NM_001458.5(FLNC):c.7885C>T (p.Pro2629Ser)
|
|
|
NM_001458.5(FLNC):c.7886C>A (p.Pro2629His)
|
|
|
NM_001458.5(FLNC):c.7907G>T (p.Ser2636Ile)
|
rs1424306829
|
|
NM_001458.5(FLNC):c.7956GAA[1] (p.Lys2653del)
|
|
|
NM_001458.5(FLNC):c.7982G>A (p.Ser2661Asn)
|
|
|
NM_001458.5(FLNC):c.7991G>A (p.Gly2664Asp)
|
|
|
NM_001458.5(FLNC):c.8019C>G (p.His2673Gln)
|
rs112180788
|
|
NM_001458.5(FLNC):c.8066A>T (p.Asn2689Ile)
|
|
|
NM_001458.5(FLNC):c.850G>T (p.Gly284Cys)
|
|
|
NM_001458.5(FLNC):c.856G>C (p.Glu286Gln)
|
rs1274480597
|
|
NM_001458.5(FLNC):c.868A>G (p.Asn290Asp)
|
rs1329109141
|
|
NM_001458.5(FLNC):c.904A>G (p.Thr302Ala)
|
rs1410531577
|
|
NM_001458.5(FLNC):c.913G>A (p.Ala305Thr)
|
rs1312282118
|
|
NM_001458.5(FLNC):c.917_918delinsTT (p.Gly306Val)
|
|
|
NM_001458.5(FLNC):c.91G>A (p.Asp31Asn)
|
|
|
NM_001458.5(FLNC):c.967G>A (p.Glu323Lys)
|
rs1562992158
|
|
NM_001458.5(FLNC):c.985A>G (p.Asn329Asp)
|
|
|
NM_001613.4(ACTA2):c.323C>T (p.Thr108Met)
|
rs886038789
|
|
NM_001613.4(ACTA2):c.496C>A (p.Pro166Thr)
|
rs886038868
|
|
NM_001711.6(BGN):c.1024G>A (p.Val342Met)
|
|
|
NM_001711.6(BGN):c.1025T>C (p.Val342Ala)
|
|
|
NM_001711.6(BGN):c.1046C>T (p.Pro349Leu)
|
|
|
NM_001711.6(BGN):c.1087T>C (p.Phe363Leu)
|
|
|
NM_001711.6(BGN):c.118G>C (p.Glu40Gln)
|
|
|
NM_001711.6(BGN):c.121G>T (p.Ala41Ser)
|
|
|
NM_001711.6(BGN):c.125C>T (p.Ser42Leu)
|
|
|
NM_001711.6(BGN):c.214C>T (p.Arg72Trp)
|
|
|
NM_001711.6(BGN):c.239G>A (p.Gly80Asp)
|
|
|
NM_001711.6(BGN):c.278C>T (p.Thr93Met)
|
|
|
NM_001711.6(BGN):c.312G>C (p.Glu104Asp)
|
|
|
NM_001711.6(BGN):c.322G>A (p.Asp108Asn)
|
|
|
NM_001711.6(BGN):c.331A>G (p.Lys111Glu)
|
|
|
NM_001711.6(BGN):c.343C>A (p.His115Asn)
|
|
|
NM_001711.6(BGN):c.376A>G (p.Ile126Val)
|
|
|
NM_001711.6(BGN):c.383A>T (p.Lys128Met)
|
|
|
NM_001711.6(BGN):c.393G>T (p.Glu131Asp)
|
|
|
NM_001711.6(BGN):c.446A>G (p.His149Arg)
|
|
|
NM_001711.6(BGN):c.472C>T (p.Pro158Ser)
|
|
|
NM_001711.6(BGN):c.511A>G (p.Ile171Val)
|
|
|
NM_001711.6(BGN):c.527A>C (p.Lys176Thr)
|
|
|
NM_001711.6(BGN):c.532G>A (p.Val178Met)
|
|
|
NM_001711.6(BGN):c.620G>C (p.Gly207Ala)
|
|
|
NM_001711.6(BGN):c.653C>T (p.Ala218Val)
|
|
|
NM_001711.6(BGN):c.730A>G (p.Ile244Val)
|
|
|
NM_001711.6(BGN):c.737T>C (p.Leu246Pro)
|
|
|
NM_001711.6(BGN):c.812G>A (p.Gly271Glu)
|
rs1286716416
|
|
NM_001711.6(BGN):c.827T>G (p.Leu276Arg)
|
|
|
NM_001711.6(BGN):c.910G>T (p.Val304Leu)
|
|
|
NM_001711.6(BGN):c.913G>A (p.Val305Ile)
|
|
|
NM_001711.6(BGN):c.964C>G (p.Pro322Ala)
|
|
|
NM_001711.6(BGN):c.986G>A (p.Arg329Gln)
|
|
|
NM_001743.6(CALM2):c.-2G>C
|
|
|
NM_001743.6(CALM2):c.-4C>T
|
|
|
NM_001743.6(CALM2):c.-5G>C
|
|
|
NM_001743.6(CALM2):c.130C>T (p.Pro44Ser)
|
|
|
NM_001743.6(CALM2):c.311C>T (p.Ala104Val)
|
|
|
NM_001743.6(CALM2):c.319C>T (p.Arg107Cys)
|
rs1312868284
|
|
NM_001743.6(CALM2):c.4-4G>A
|
|
|
NM_001743.6(CALM2):c.57A>C (p.Leu19=)
|
|
|
NM_001927.4(DES):c.1024-3C>A
|
rs1553603530
|
|
NM_001927.4(DES):c.1024-4G>A
|
|
|
NM_001927.4(DES):c.1073G>T (p.Ser358Ile)
|
|
|
NM_001927.4(DES):c.1090C>A (p.Gln364Lys)
|
rs1224165687
|
|
NM_001927.4(DES):c.1096A>G (p.Asn366Asp)
|
|
|
NM_001927.4(DES):c.1099A>G (p.Ile367Val)
|
rs62636494
|
|
NM_001927.4(DES):c.1117G>A (p.Glu373Lys)
|
|
|
NM_001927.4(DES):c.1153C>G (p.Leu385Val)
|
rs1393155504
|
|
NM_001927.4(DES):c.1157G>A (p.Arg386His)
|
rs1029457073
|
|
NM_001927.4(DES):c.1157G>T (p.Arg386Leu)
|
|
|
NM_001927.4(DES):c.115G>A (p.Gly39Ser)
|
rs758434755
|
|
NM_001927.4(DES):c.1178A>T (p.Asn393Ile)
|
rs121913001
|
|
NM_001927.4(DES):c.1203G>C (p.Glu401Asp)
|
rs2125168897
|
|
NM_001927.4(DES):c.1205T>C (p.Ile402Thr)
|
rs1553603571
|
|
NM_001927.4(DES):c.1245-3T>G
|
rs111427762
|
|
NM_001927.4(DES):c.1286G>A (p.Arg429Gln)
|
rs200580581
|
|
NM_001927.4(DES):c.1333_1336del (p.Lys444_Thr445insTer)
|
rs1114167327
|
|
NM_001927.4(DES):c.1345_1353del (p.Lys449_Ile451del)
|
rs1064796352
|
|
NM_001927.4(DES):c.1349C>A (p.Thr450Asn)
|
|
|
NM_001927.4(DES):c.1354G>A (p.Glu452Lys)
|
|
|
NM_001927.4(DES):c.1371+2dup
|
rs2125172078
|
|
NM_001927.4(DES):c.1372-3dup
|
rs876657769
|
|
NM_001927.4(DES):c.154C>A (p.Arg52Ser)
|
rs794728990
|
|
NM_001927.4(DES):c.15C>A (p.Tyr5Ter)
|
|
|
NM_001927.4(DES):c.172C>T (p.Arg58Cys)
|
|
|
NM_001927.4(DES):c.173G>T (p.Arg58Leu)
|
|
|
NM_001927.4(DES):c.17C>G (p.Ser6Trp)
|
rs1214936508
|
|
NM_001927.4(DES):c.190G>A (p.Gly64Arg)
|
|
|
NM_001927.4(DES):c.193G>C (p.Gly65Arg)
|
|
|
NM_001927.4(DES):c.206T>C (p.Leu69Pro)
|
|
|
NM_001927.4(DES):c.314G>C (p.Arg105Pro)
|
|
|
NM_001927.4(DES):c.314_315delinsCT (p.Arg105Pro)
|
|
|
NM_001927.4(DES):c.326A>G (p.Lys109Arg)
|
rs1488426454
|
|
NM_001927.4(DES):c.327G>C (p.Lys109Asn)
|
|
|
NM_001927.4(DES):c.349G>C (p.Asp117His)
|
rs1954372615
|
|
NM_001927.4(DES):c.359C>G (p.Ala120Gly)
|
|
|
NM_001927.4(DES):c.361A>C (p.Asn121His)
|
rs1954373113
|
|
NM_001927.4(DES):c.37T>C (p.Ser13Pro)
|
rs1954359599
|
|
NM_001927.4(DES):c.404C>T (p.Ala135Val)
|
rs546741834
|
|
NM_001927.4(DES):c.406C>G (p.Leu136Val)
|
rs1175707667
|
|
NM_001927.4(DES):c.425G>C (p.Arg142Pro)
|
|
|
NM_001927.4(DES):c.439G>A (p.Glu147Lys)
|
|
|
NM_001927.4(DES):c.446C>G (p.Thr149Arg)
|
|
|
NM_001927.4(DES):c.461T>C (p.Leu154Pro)
|
|
|
NM_001927.4(DES):c.482A>G (p.Glu161Gly)
|
|
|
NM_001927.4(DES):c.483G>C (p.Glu161Asp)
|
|
|
NM_001927.4(DES):c.490C>A (p.Arg164Ser)
|
|
|
NM_001927.4(DES):c.515A>T (p.Gln172Leu)
|
|
|
NM_001927.4(DES):c.541G>C (p.Asp181His)
|
rs1297244198
|
|
NM_001927.4(DES):c.542_550del (p.Asp181_Leu184delinsVal)
|
|
|
NM_001927.4(DES):c.55G>C (p.Gly19Arg)
|
rs936853024
|
|
NM_001927.4(DES):c.578+3G>T
|
|
|
NM_001927.4(DES):c.597G>C (p.Gln199His)
|
|
|
NM_001927.4(DES):c.602A>G (p.Lys201Arg)
|
|
|
NM_001927.4(DES):c.623T>C (p.Leu208Ser)
|
rs373062962
|
|
NM_001927.4(DES):c.670G>C (p.Asp224His)
|
|
|
NM_001927.4(DES):c.68G>A (p.Gly23Asp)
|
|
|
NM_001927.4(DES):c.709G>T (p.Ala237Ser)
|
rs397516697
|
|
NM_001927.4(DES):c.743G>T (p.Arg248Leu)
|
|
|
NM_001927.4(DES):c.767A>G (p.Glu256Gly)
|
rs1553603440
|
|
NM_001927.4(DES):c.823A>G (p.Arg275Gly)
|
rs994389035
|
|
NM_001927.4(DES):c.832C>T (p.Arg278Trp)
|
rs794728985
|
|
NM_001927.4(DES):c.844G>A (p.Glu282Lys)
|
|
|
NM_001927.4(DES):c.845A>G (p.Glu282Gly)
|
|
|
NM_001927.4(DES):c.847A>G (p.Thr283Ala)
|
|
|
NM_001927.4(DES):c.906C>A (p.Asp302Glu)
|
rs1224203630
|
|
NM_001927.4(DES):c.944G>A (p.Arg315His)
|
rs771455648
|
|
NM_001927.4(DES):c.985C>T (p.Gln329Ter)
|
rs759320891
|
|
NM_001927.4(DES):c.998G>T (p.Cys333Phe)
|
|
|
NM_001927.4(DES):c.999C>G (p.Cys333Trp)
|
|
|
NM_001943.5(DSG2):c.-11_11dup (p.Ser4fs)
|
|
|
NM_001943.5(DSG2):c.1014+3_1014+4del
|
|
|
NM_001943.5(DSG2):c.1034T>A (p.Met345Lys)
|
rs2144332528
|
|
NM_001943.5(DSG2):c.1035GAA[1] (p.Lys346del)
|
rs727502987
|
|
NM_001943.5(DSG2):c.1064C>T (p.Ala355Val)
|
|
|
NM_001943.5(DSG2):c.1111A>C (p.Thr371Pro)
|
|
|
NM_001943.5(DSG2):c.1159C>G (p.His387Asp)
|
rs886039173
|
|
NM_001943.5(DSG2):c.1173C>A (p.Ser391Arg)
|
rs763242004
|
|
NM_001943.5(DSG2):c.1256A>T (p.Asp419Val)
|
rs760135423
|
|
NM_001943.5(DSG2):c.1297G>T (p.Asp433Tyr)
|
rs938919152
|
|
NM_001943.5(DSG2):c.12C>G (p.Ser4Arg)
|
|
|
NM_001943.5(DSG2):c.1316C>G (p.Ser439Cys)
|
rs2073222283
|
|
NM_001943.5(DSG2):c.131T>C (p.Leu44Ser)
|
|
|
NM_001943.5(DSG2):c.1321G>T (p.Asp441Tyr)
|
|
|
NM_001943.5(DSG2):c.1355T>C (p.Leu452Pro)
|
|
|
NM_001943.5(DSG2):c.1355T>G (p.Leu452Arg)
|
rs763810935
|
|
NM_001943.5(DSG2):c.1427A>T (p.Tyr476Phe)
|
|
|
NM_001943.5(DSG2):c.1429C>A (p.Pro477Thr)
|
|
|
NM_001943.5(DSG2):c.143A>G (p.Lys48Arg)
|
rs1225118377
|
|
NM_001943.5(DSG2):c.1447G>A (p.Gly483Ser)
|
rs886053714
|
|
NM_001943.5(DSG2):c.1451C>T (p.Thr484Ile)
|
rs1003784921
|
|
NM_001943.5(DSG2):c.1483A>T (p.Asn495Tyr)
|
|
|
NM_001943.5(DSG2):c.1499T>G (p.Ile500Arg)
|
rs769741655
|
|
NM_001943.5(DSG2):c.14C>T (p.Pro5Leu)
|
rs530517936
|
|
NM_001943.5(DSG2):c.1504C>T (p.Pro502Ser)
|
rs774495857
|
|
NM_001943.5(DSG2):c.1532A>G (p.Glu511Gly)
|
rs1416039056
|
|
NM_001943.5(DSG2):c.1533G>C (p.Glu511Asp)
|
|
|
NM_001943.5(DSG2):c.1549G>T (p.Ala517Ser)
|
rs1299327345
|
|
NM_001943.5(DSG2):c.1605C>A (p.Asp535Glu)
|
rs368718022
|
|
NM_001943.5(DSG2):c.1670A>G (p.Gln557Arg)
|
|
|
NM_001943.5(DSG2):c.1676G>A (p.Ser559Asn)
|
|
|
NM_001943.5(DSG2):c.1698T>A (p.Ser566Arg)
|
|
|
NM_001943.5(DSG2):c.1707G>C (p.Gln569His)
|
rs370097438
|
|
NM_001943.5(DSG2):c.172C>G (p.Leu58Val)
|
rs780300040
|
|
NM_001943.5(DSG2):c.1744G>A (p.Glu582Lys)
|
|
|
NM_001943.5(DSG2):c.1817C>A (p.Ser606Tyr)
|
|
|
NM_001943.5(DSG2):c.1880T>C (p.Leu627Ser)
|
|
|
NM_001943.5(DSG2):c.190C>G (p.Leu64Val)
|
|
|
NM_001943.5(DSG2):c.1964A>T (p.His655Leu)
|
|
|
NM_001943.5(DSG2):c.2008C>T (p.Pro670Ser)
|
|
|
NM_001943.5(DSG2):c.2026G>C (p.Asp676His)
|
|
|
NM_001943.5(DSG2):c.2081C>G (p.Ala694Gly)
|
|
|
NM_001943.5(DSG2):c.2087T>G (p.Met696Arg)
|
|
|
NM_001943.5(DSG2):c.2137_2138delinsAC (p.Glu713Thr)
|
|
|
NM_001943.5(DSG2):c.2183G>A (p.Arg728Lys)
|
|
|
NM_001943.5(DSG2):c.2188A>G (p.Thr730Ala)
|
rs780650226
|
|
NM_001943.5(DSG2):c.2210G>A (p.Gly737Asp)
|
|
|
NM_001943.5(DSG2):c.2242G>T (p.Ala748Ser)
|
rs763994831
|
|
NM_001943.5(DSG2):c.2254G>C (p.Gly752Arg)
|
|
|
NM_001943.5(DSG2):c.2261C>T (p.Ser754Phe)
|
|
|
NM_001943.5(DSG2):c.2271G>A (p.Met757Ile)
|
rs2073277708
|
|
NM_001943.5(DSG2):c.2285C>A (p.Ala762Glu)
|
|
|
NM_001943.5(DSG2):c.2417C>T (p.Ser806Leu)
|
|
|
NM_001943.5(DSG2):c.2438G>T (p.Cys813Phe)
|
|
|
NM_001943.5(DSG2):c.2441G>T (p.Cys814Phe)
|
|
|
NM_001943.5(DSG2):c.2447T>A (p.Phe816Tyr)
|
rs1284559802
|
|
NM_001943.5(DSG2):c.2470C>A (p.Arg824Ser)
|
|
|
NM_001943.5(DSG2):c.2479G>C (p.Asp827His)
|
|
|
NM_001943.5(DSG2):c.2504C>T (p.Thr835Ile)
|
|
|
NM_001943.5(DSG2):c.2504_2505inv (p.Thr835Met)
|
|
|
NM_001943.5(DSG2):c.2509G>A (p.Ala837Thr)
|
rs2073302750
|
|
NM_001943.5(DSG2):c.2554G>T (p.Glu852Ter)
|
|
|
NM_001943.5(DSG2):c.2575A>G (p.Thr859Ala)
|
rs886039011
|
|
NM_001943.5(DSG2):c.259T>G (p.Tyr87Asp)
|
|
|
NM_001943.5(DSG2):c.2616G>T (p.Glu872Asp)
|
|
|
NM_001943.5(DSG2):c.2625G>A (p.Met875Ile)
|
|
|
NM_001943.5(DSG2):c.2646CTC[1] (p.Ser884del)
|
rs794728095
|
|
NM_001943.5(DSG2):c.2696C>T (p.Ala899Val)
|
rs1446243136
|
|
NM_001943.5(DSG2):c.2700G>T (p.Glu900Asp)
|
rs1396387126
|
|
NM_001943.5(DSG2):c.271G>A (p.Gly91Arg)
|
|
|
NM_001943.5(DSG2):c.2729G>A (p.Arg910Lys)
|
|
|
NM_001943.5(DSG2):c.2758G>T (p.Val920Leu)
|
|
|
NM_001943.5(DSG2):c.2759T>C (p.Val920Ala)
|
|
|
NM_001943.5(DSG2):c.2792G>A (p.Arg931Lys)
|
rs886039205
|
|
NM_001943.5(DSG2):c.2800A>G (p.Ile934Val)
|
rs1469730786
|
|
NM_001943.5(DSG2):c.2873C>T (p.Pro958Leu)
|
|
|
NM_001943.5(DSG2):c.2881C>T (p.Leu961Phe)
|
|
|
NM_001943.5(DSG2):c.289C>T (p.Pro97Ser)
|
|
|
NM_001943.5(DSG2):c.2933C>T (p.Pro978Leu)
|
|
|
NM_001943.5(DSG2):c.2944G>A (p.Glu982Lys)
|
rs781744343
|
|
NM_001943.5(DSG2):c.2948G>A (p.Gly983Asp)
|
rs746359987
|
|
NM_001943.5(DSG2):c.2969G>A (p.Arg990Lys)
|
|
|
NM_001943.5(DSG2):c.2974A>G (p.Ile992Val)
|
rs933743259
|
|
NM_001943.5(DSG2):c.2975T>C (p.Ile992Thr)
|
|
|
NM_001943.5(DSG2):c.2978A>G (p.Gln993Arg)
|
|
|
NM_001943.5(DSG2):c.303A>G (p.Ile101Met)
|
rs755433039
|
|
NM_001943.5(DSG2):c.3056G>A (p.Arg1019Lys)
|
rs1057520867
|
|
NM_001943.5(DSG2):c.3061_3062del (p.Ser1021fs)
|
rs397516706
|
|
NM_001943.5(DSG2):c.3143_3160dup (p.Glu1048_Pro1053dup)
|
rs1319078257
|
|
NM_001943.5(DSG2):c.3144_3147del (p.Arg1049fs)
|
rs758822081
|
|
NM_001943.5(DSG2):c.3146G>C (p.Arg1049Thr)
|
|
|
NM_001943.5(DSG2):c.3230C>T (p.Ser1077Phe)
|
rs962653351
|
|
NM_001943.5(DSG2):c.3239G>T (p.Gly1080Val)
|
|
|
NM_001943.5(DSG2):c.3280G>C (p.Gly1094Arg)
|
rs2073313909
|
|
NM_001943.5(DSG2):c.3304A>G (p.Thr1102Ala)
|
rs778884735
|
|
NM_001943.5(DSG2):c.3329A>G (p.His1110Arg)
|
|
|
NM_001943.5(DSG2):c.3331A>T (p.Ser1111Cys)
|
|
|
NM_001943.5(DSG2):c.370T>A (p.Phe124Ile)
|
|
|
NM_001943.5(DSG2):c.37C>T (p.Leu13Phe)
|
rs1276147010
|
|
NM_001943.5(DSG2):c.383C>T (p.Thr128Ile)
|
rs764530260
|
|
NM_001943.5(DSG2):c.385G>T (p.Gly129Cys)
|
rs2073125035
|
|
NM_001943.5(DSG2):c.391G>T (p.Ala131Ser)
|
rs373542380
|
|
NM_001943.5(DSG2):c.42_44del (p.Leu15del)
|
rs2072994567
|
|
NM_001943.5(DSG2):c.444G>C (p.Lys148Asn)
|
|
|
NM_001943.5(DSG2):c.45+5G>C
|
rs1423214260
|
|
NM_001943.5(DSG2):c.484G>A (p.Asp162Asn)
|
|
|
NM_001943.5(DSG2):c.486T>A (p.Asp162Glu)
|
rs756239722
|
|
NM_001943.5(DSG2):c.494T>C (p.Val165Ala)
|
|
|
NM_001943.5(DSG2):c.530T>C (p.Leu177Pro)
|
|
|
NM_001943.5(DSG2):c.616G>A (p.Ala206Thr)
|
|
|
NM_001943.5(DSG2):c.628G>A (p.Val210Met)
|
|
|
NM_001943.5(DSG2):c.691-5T>A
|
|
|
NM_001943.5(DSG2):c.722C>T (p.Ala241Val)
|
|
|
NM_001943.5(DSG2):c.818A>C (p.Glu273Ala)
|
|
|
NM_001943.5(DSG2):c.820A>T (p.Asn274Tyr)
|
|
|
NM_001943.5(DSG2):c.829-4G>A
|
rs376424003
|
|
NM_001943.5(DSG2):c.829_840del (p.Leu277_Met280del)
|
rs794728093
|
|
NM_001943.5(DSG2):c.832G>A (p.Glu278Lys)
|
|
|
NM_001943.5(DSG2):c.875G>T (p.Arg292Leu)
|
rs185821167
|
|
NM_001943.5(DSG2):c.877A>T (p.Ile293Leu)
|
rs2230234
|
|
NM_001943.5(DSG2):c.888C>G (p.Phe296Leu)
|
|
|
NM_001943.5(DSG2):c.898G>A (p.Glu300Lys)
|
|
|
NM_001943.5(DSG2):c.967A>G (p.Ile323Val)
|
rs886039096
|
|
NM_001943.5(DSG2):c.98A>C (p.Asn33Thr)
|
rs727505205
|
|
NM_001999.4(FBN2):c.4184G>T (p.Cys1395Phe)
|
rs886038935
|
|
NM_001999.4(FBN2):c.4757G>A (p.Arg1586Gln)
|
rs143195229
|
|
NM_001999.4(FBN2):c.4829T>C (p.Leu1610Pro)
|
rs886038891
|
|
NM_001999.4(FBN2):c.4994A>G (p.Asn1665Ser)
|
rs886038773
|
|
NM_001999.4(FBN2):c.5531T>C (p.Leu1844Pro)
|
rs755917639
|
|
NM_001999.4(FBN2):c.6118A>G (p.Arg2040Gly)
|
rs886038814
|
|
NM_001999.4(FBN2):c.756G>T (p.Glu252Asp)
|
rs565550310
|
|
NM_001999.4(FBN2):c.8035G>T (p.Ala2679Ser)
|
rs763870762
|
|
NM_001999.4(FBN2):c.8597G>T (p.Gly2866Val)
|
rs886038818
|
|
NM_002230.4(JUP):c.-2C>T
|
|
|
NM_002230.4(JUP):c.-3_6delinsCCA (p.Met1_Glu2del)
|
|
|
NM_002230.4(JUP):c.1046T>A (p.Val349Glu)
|
|
|
NM_002230.4(JUP):c.1066G>A (p.Ala356Thr)
|
|
|
NM_002230.4(JUP):c.1080C>A (p.His360Gln)
|
|
|
NM_002230.4(JUP):c.1113C>A (p.Asn371Lys)
|
rs782009178
|
|
NM_002230.4(JUP):c.1129C>T (p.Arg377Cys)
|
rs368564000
|
|
NM_002230.4(JUP):c.1134C>G (p.Asn378Lys)
|
|
|
NM_002230.4(JUP):c.113GCA[1] (p.Ser39del)
|
rs113994176
|
|
NM_002230.4(JUP):c.1183A>G (p.Ile395Val)
|
|
|
NM_002230.4(JUP):c.1246T>A (p.Ser416Thr)
|
|
|
NM_002230.4(JUP):c.1247C>T (p.Ser416Phe)
|
|
|
NM_002230.4(JUP):c.1260C>G (p.Cys420Trp)
|
|
|
NM_002230.4(JUP):c.1292A>G (p.Gln431Arg)
|
|
|
NM_002230.4(JUP):c.1328T>C (p.Leu443Pro)
|
|
|
NM_002230.4(JUP):c.1346A>G (p.Asp449Gly)
|
|
|
NM_002230.4(JUP):c.1429C>T (p.Arg477Cys)
|
|
|
NM_002230.4(JUP):c.1470C>G (p.Asn490Lys)
|
|
|
NM_002230.4(JUP):c.1481A>G (p.Gln494Arg)
|
rs2143558258
|
|
NM_002230.4(JUP):c.1482G>C (p.Gln494His)
|
rs1367975995
|
|
NM_002230.4(JUP):c.1497+4C>G
|
|
|
NM_002230.4(JUP):c.1498G>A (p.Ala500Thr)
|
|
|
NM_002230.4(JUP):c.1525G>T (p.Ala509Ser)
|
rs1555599847
|
|
NM_002230.4(JUP):c.152G>T (p.Arg51Leu)
|
|
|
NM_002230.4(JUP):c.1547C>A (p.Ala516Asp)
|
rs1255846046
|
|
NM_002230.4(JUP):c.1577G>A (p.Arg526His)
|
|
|
NM_002230.4(JUP):c.1622A>C (p.His541Pro)
|
|
|
NM_002230.4(JUP):c.1622A>T (p.His541Leu)
|
rs782449369
|
|
NM_002230.4(JUP):c.1678G>A (p.Val560Met)
|
|
|
NM_002230.4(JUP):c.1685G>A (p.Gly562Asp)
|
|
|
NM_002230.4(JUP):c.1697C>G (p.Ala566Gly)
|
|
|
NM_002230.4(JUP):c.1705A>T (p.Ile569Phe)
|
rs370101446
|
|
NM_002230.4(JUP):c.1711G>A (p.Ala571Thr)
|
rs397517297
|
|
NM_002230.4(JUP):c.1745G>A (p.Arg582Gln)
|
rs781828085
|
|
NM_002230.4(JUP):c.1773+3G>A
|
rs1460748612
|
|
NM_002230.4(JUP):c.1774C>G (p.Leu592Val)
|
|
|
NM_002230.4(JUP):c.178_186del (p.Thr60_Thr62del)
|
|
|
NM_002230.4(JUP):c.1814C>T (p.Ala605Val)
|
rs954113545
|
|
NM_002230.4(JUP):c.1816G>A (p.Gly606Arg)
|
|
|
NM_002230.4(JUP):c.1816G>C (p.Gly606Arg)
|
rs1371912642
|
|
NM_002230.4(JUP):c.1817G>A (p.Gly606Glu)
|
|
|
NM_002230.4(JUP):c.1835C>G (p.Ala612Gly)
|
|
|
NM_002230.4(JUP):c.1858G>A (p.Ala620Thr)
|
|
|
NM_002230.4(JUP):c.185C>G (p.Thr62Ser)
|
|
|
NM_002230.4(JUP):c.1873G>A (p.Gly625Arg)
|
|
|
NM_002230.4(JUP):c.1879T>C (p.Ser627Pro)
|
|
|
NM_002230.4(JUP):c.1907C>T (p.Ser636Phe)
|
|
|
NM_002230.4(JUP):c.1910G>T (p.Arg637Leu)
|
|
|
NM_002230.4(JUP):c.1915G>A (p.Glu639Lys)
|
|
|
NM_002230.4(JUP):c.1924+1G>A
|
rs1597781765
|
|
NM_002230.4(JUP):c.1927A>G (p.Thr643Ala)
|
rs2143420466
|
|
NM_002230.4(JUP):c.1955T>A (p.Ile652Asn)
|
|
|
NM_002230.4(JUP):c.1981C>T (p.Arg661Trp)
|
|
|
NM_002230.4(JUP):c.203G>A (p.Ser68Asn)
|
|
|
NM_002230.4(JUP):c.2056A>G (p.Met686Val)
|
|
|
NM_002230.4(JUP):c.2087-4C>A
|
|
|
NM_002230.4(JUP):c.2095G>T (p.Ala699Ser)
|
|
|
NM_002230.4(JUP):c.211_213delinsTAC (p.Asp71Tyr)
|
|
|
NM_002230.4(JUP):c.2125G>A (p.Val709Met)
|
|
|
NM_002230.4(JUP):c.2146A>G (p.Met716Val)
|
|
|
NM_002230.4(JUP):c.2158A>G (p.Met720Val)
|
|
|
NM_002230.4(JUP):c.2162A>G (p.Asp721Gly)
|
|
|
NM_002230.4(JUP):c.2188A>G (p.Ser730Gly)
|
rs1009184280
|
|
NM_002230.4(JUP):c.2204C>T (p.Pro735Leu)
|
rs782574785
|
|
NM_002230.4(JUP):c.2212C>T (p.Pro738Ser)
|
|
|
NM_002230.4(JUP):c.2222A>G (p.Asp741Gly)
|
|
|
NM_002230.4(JUP):c.2227A>G (p.Met743Val)
|
rs1913591137
|
|
NM_002230.4(JUP):c.250C>G (p.Arg84Gly)
|
rs782306414
|
|
NM_002230.4(JUP):c.328G>T (p.Ala110Ser)
|
|
|
NM_002230.4(JUP):c.370A>T (p.Lys124Ter)
|
|
|
NM_002230.4(JUP):c.382G>A (p.Val128Met)
|
|
|
NM_002230.4(JUP):c.389TCA[1] (p.Ile131del)
|
rs781818082
|
|
NM_002230.4(JUP):c.401A>G (p.Gln134Arg)
|
rs1057518313
|
|
NM_002230.4(JUP):c.436G>T (p.Glu146Ter)
|
rs146581757
|
|
NM_002230.4(JUP):c.457G>A (p.Asp153Asn)
|
|
|
NM_002230.4(JUP):c.468+4T>C
|
rs782412433
|
|
NM_002230.4(JUP):c.468G>A (p.Pro156=)
|
rs886037753
|
|
NM_002230.4(JUP):c.476T>C (p.Val159Ala)
|
|
|
NM_002230.4(JUP):c.484G>T (p.Ala162Ser)
|
rs1555605437
|
|
NM_002230.4(JUP):c.527G>T (p.Arg176Leu)
|
|
|
NM_002230.4(JUP):c.539T>G (p.Met180Arg)
|
|
|
NM_002230.4(JUP):c.542G>T (p.Gly181Val)
|
rs1555605325
|
|
NM_002230.4(JUP):c.54G>C (p.Gln18His)
|
|
|
NM_002230.4(JUP):c.568G>C (p.Val190Leu)
|
rs370143312
|
|
NM_002230.4(JUP):c.595del (p.Leu199fs)
|
|
|
NM_002230.4(JUP):c.622A>G (p.Ile208Val)
|
|
|
NM_002230.4(JUP):c.631_633del (p.Asn211del)
|
rs1916151526
|
|
NM_002230.4(JUP):c.634C>G (p.Leu212Val)
|
|
|
NM_002230.4(JUP):c.643C>T (p.His215Tyr)
|
|
|
NM_002230.4(JUP):c.652G>C (p.Gly218Arg)
|
rs1597823588
|
|
NM_002230.4(JUP):c.67G>A (p.Asp23Asn)
|
|
|
NM_002230.4(JUP):c.69C>G (p.Asp23Glu)
|
|
|
NM_002230.4(JUP):c.707+2T>C
|
|
|
NM_002230.4(JUP):c.707+3delinsGAGCCCATCAGTGAG
|
|
|
NM_002230.4(JUP):c.716T>C (p.Val239Ala)
|
|
|
NM_002230.4(JUP):c.722C>T (p.Ser241Leu)
|
|
|
NM_002230.4(JUP):c.73G>A (p.Gly25Ser)
|
|
|
NM_002230.4(JUP):c.743C>A (p.Thr248Asn)
|
|
|
NM_002230.4(JUP):c.773A>G (p.Glu258Gly)
|
rs794729052
|
|
NM_002230.4(JUP):c.78C>G (p.Ile26Met)
|
|
|
NM_002230.4(JUP):c.800C>A (p.Ala267Asp)
|
|
|
NM_002230.4(JUP):c.820G>A (p.Val274Met)
|
rs1555604537
|
|
NM_002230.4(JUP):c.862A>G (p.Thr288Ala)
|
|
|
NM_002230.4(JUP):c.880C>T (p.Leu294Phe)
|
|
|
NM_002230.4(JUP):c.909+1del
|
|
|
NM_002230.4(JUP):c.916A>G (p.Ile306Val)
|
|
|
NM_002230.4(JUP):c.916del (p.Ile306fs)
|
|
|
NM_002230.4(JUP):c.927T>A (p.Asn309Lys)
|
|
|
NM_002230.4(JUP):c.941C>G (p.Ala314Gly)
|
rs201214805
|
|
NM_002230.4(JUP):c.957G>A (p.Met319Ile)
|
|
|
NM_002230.4(JUP):c.95C>T (p.Thr32Ile)
|
|
|
NM_002294.3(LAMP2):c.1015G>C (p.Val339Leu)
|
rs1602532154
|
|
NM_002294.3(LAMP2):c.1040C>G (p.Thr347Ser)
|
rs730880487
|
|
NM_002294.3(LAMP2):c.1094-1G>C
|
rs1331940434
|
|
NM_002294.3(LAMP2):c.1105A>G (p.Ser369Gly)
|
|
|
NM_002294.3(LAMP2):c.1204C>T (p.His402Tyr)
|
|
|
NM_002294.3(LAMP2):c.199T>C (p.Ser67Pro)
|
rs2147286966
|
|
NM_002294.3(LAMP2):c.25G>C (p.Val9Leu)
|
rs1921665698
|
|
NM_002294.3(LAMP2):c.260A>G (p.Lys87Arg)
|
|
|
NM_002294.3(LAMP2):c.281C>A (p.Pro94His)
|
|
|
NM_002294.3(LAMP2):c.316G>A (p.Ala106Thr)
|
rs1305798857
|
|
NM_002294.3(LAMP2):c.371C>T (p.Thr124Ile)
|
rs397516744
|
|
NM_002294.3(LAMP2):c.49G>A (p.Val17Ile)
|
rs777718603
|
|
NM_002294.3(LAMP2):c.617C>T (p.Pro206Leu)
|
rs1602535864
|
|
NM_002294.3(LAMP2):c.632C>T (p.Thr211Ile)
|
|
|
NM_002294.3(LAMP2):c.638C>T (p.Thr213Ile)
|
|
|
NM_002294.3(LAMP2):c.676A>G (p.Asn226Asp)
|
|
|
NM_002294.3(LAMP2):c.710T>A (p.Met237Lys)
|
|
|
NM_002294.3(LAMP2):c.741G>A (p.Lys247=)
|
|
|
NM_002294.3(LAMP2):c.741G>T (p.Lys247Asn)
|
rs1556101296
|
|
NM_002294.3(LAMP2):c.802C>T (p.His268Tyr)
|
|
|
NM_002294.3(LAMP2):c.864+5G>T
|
rs1352584474
|
|
NM_002294.3(LAMP2):c.887T>G (p.Leu296Arg)
|
rs730880486
|
|
NM_002294.3(LAMP2):c.8G>C (p.Cys3Ser)
|
|
|
NM_002294.3(LAMP2):c.970C>T (p.Pro324Ser)
|
rs866736614
|
|
NM_002294.3(LAMP2):c.9C>T (p.Cys3=)
|
|
|
NM_002317.7(LOX):c.100G>C (p.Glu34Gln)
|
|
|
NM_002317.7(LOX):c.1028A>T (p.His343Leu)
|
|
|
NM_002317.7(LOX):c.1034A>G (p.Gln345Arg)
|
|
|
NM_002317.7(LOX):c.1035+4T>C
|
rs763804503
|
|
NM_002317.7(LOX):c.1044T>A (p.Ser348Arg)
|
rs1561417568
|
|
NM_002317.7(LOX):c.1111C>G (p.Pro371Ala)
|
rs1754418435
|
|
NM_002317.7(LOX):c.1175C>T (p.Thr392Ile)
|
|
|
NM_002317.7(LOX):c.1219G>A (p.Ala407Thr)
|
|
|
NM_002317.7(LOX):c.1232G>T (p.Gly411Val)
|
|
|
NM_002317.7(LOX):c.1247+1G>C
|
|
|
NM_002317.7(LOX):c.128G>A (p.Arg43His)
|
|
|
NM_002317.7(LOX):c.144G>C (p.Trp48Cys)
|
|
|
NM_002317.7(LOX):c.154G>A (p.Gly52Arg)
|
|
|
NM_002317.7(LOX):c.154G>T (p.Gly52Trp)
|
|
|
NM_002317.7(LOX):c.189G>T (p.Gln63His)
|
|
|
NM_002317.7(LOX):c.209G>A (p.Arg70Gln)
|
|
|
NM_002317.7(LOX):c.213C>G (p.Asp71Glu)
|
|
|
NM_002317.7(LOX):c.233G>C (p.Gly78Ala)
|
|
|
NM_002317.7(LOX):c.256C>A (p.Gln86Lys)
|
|
|
NM_002317.7(LOX):c.275T>C (p.Leu92Pro)
|
|
|
NM_002317.7(LOX):c.298G>A (p.Ala100Thr)
|
|
|
NM_002317.7(LOX):c.311C>A (p.Thr104Lys)
|
|
|
NM_002317.7(LOX):c.314G>T (p.Arg105Leu)
|
|
|
NM_002317.7(LOX):c.316A>C (p.Thr106Pro)
|
|
|
NM_002317.7(LOX):c.319G>A (p.Ala107Thr)
|
|
|
NM_002317.7(LOX):c.334G>C (p.Val112Leu)
|
|
|
NM_002317.7(LOX):c.359C>T (p.Thr120Ile)
|
|
|
NM_002317.7(LOX):c.361G>C (p.Ala121Pro)
|
|
|
NM_002317.7(LOX):c.398G>C (p.Arg133Thr)
|
|
|
NM_002317.7(LOX):c.431A>G (p.Asn144Ser)
|
rs1358871918
|
|
NM_002317.7(LOX):c.43C>T (p.Leu15Phe)
|
|
|
NM_002317.7(LOX):c.454C>G (p.Pro152Ala)
|
|
|
NM_002317.7(LOX):c.464G>T (p.Ser155Ile)
|
|
|
NM_002317.7(LOX):c.484C>T (p.Arg162Cys)
|
rs2152591293
|
|
NM_002317.7(LOX):c.496A>G (p.Met166Val)
|
|
|
NM_002317.7(LOX):c.50C>A (p.Ala17Glu)
|
|
|
NM_002317.7(LOX):c.521C>A (p.Pro174His)
|
|
|
NM_002317.7(LOX):c.548A>T (p.Tyr183Phe)
|
|
|
NM_002317.7(LOX):c.566C>T (p.Thr189Ile)
|
|
|
NM_002317.7(LOX):c.599G>A (p.Arg200Gln)
|
|
|
NM_002317.7(LOX):c.607T>C (p.Tyr203His)
|
|
|
NM_002317.7(LOX):c.634C>A (p.Leu212Ile)
|
|
|
NM_002317.7(LOX):c.668A>G (p.Gln223Arg)
|
rs1312701230
|
|
NM_002317.7(LOX):c.736G>T (p.Ala246Ser)
|
|
|
NM_002317.7(LOX):c.740+5G>A
|
|
|
NM_002317.7(LOX):c.797C>A (p.Pro266His)
|
|
|
NM_002317.7(LOX):c.823T>A (p.Ser275Thr)
|
|
|
NM_002317.7(LOX):c.842G>C (p.Arg281Pro)
|
rs1470075358
|
|
NM_002317.7(LOX):c.844C>G (p.Pro282Ala)
|
|
|
NM_002317.7(LOX):c.923A>T (p.Asp308Val)
|
|
|
NM_002471.4(MYH6):c.-4C>G
|
|
|
NM_002471.4(MYH6):c.1007C>G (p.Ala336Gly)
|
rs138572790
|
|
NM_002471.4(MYH6):c.1031C>T (p.Ser344Leu)
|
|
|
NM_002471.4(MYH6):c.1034A>T (p.Glu345Val)
|
rs561344265
|
|
NM_002471.4(MYH6):c.1056G>C (p.Lys352Asn)
|
|
|
NM_002471.4(MYH6):c.1061C>T (p.Thr354Met)
|
|
|
NM_002471.4(MYH6):c.1078T>C (p.Tyr360His)
|
|
|
NM_002471.4(MYH6):c.1142-4C>G
|
|
|
NM_002471.4(MYH6):c.1156G>A (p.Ala386Thr)
|
|
|
NM_002471.4(MYH6):c.1185C>A (p.Asp395Glu)
|
rs201822160
|
|
NM_002471.4(MYH6):c.1225A>C (p.Asn409His)
|
rs2138612545
|
|
NM_002471.4(MYH6):c.1227C>A (p.Asn409Lys)
|
|
|
NM_002471.4(MYH6):c.1249A>T (p.Ser417Cys)
|
rs199754151
|
|
NM_002471.4(MYH6):c.1265A>G (p.Tyr422Cys)
|
rs1891578725
|
|
NM_002471.4(MYH6):c.1308G>A (p.Met436Ile)
|
rs1891577130
|
|
NM_002471.4(MYH6):c.1321G>A (p.Val441Met)
|
|
|
NM_002471.4(MYH6):c.1338dup (p.Thr447fs)
|
|
|
NM_002471.4(MYH6):c.1353del (p.Lys451fs)
|
|
|
NM_002471.4(MYH6):c.1361G>A (p.Arg454His)
|
|
|
NM_002471.4(MYH6):c.1408G>A (p.Asp470Asn)
|
rs777651128
|
|
NM_002471.4(MYH6):c.1422T>G (p.Phe474Leu)
|
|
|
NM_002471.4(MYH6):c.145G>A (p.Ala49Thr)
|
|
|
NM_002471.4(MYH6):c.1486G>C (p.Val496Leu)
|
rs761085263
|
|
NM_002471.4(MYH6):c.1489C>A (p.Leu497Met)
|
rs1315813996
|
|
NM_002471.4(MYH6):c.1497G>C (p.Gln499His)
|
|
|
NM_002471.4(MYH6):c.1500G>C (p.Glu500Asp)
|
rs372073959
|
|
NM_002471.4(MYH6):c.1521T>G (p.Ile507Met)
|
rs142410102
|
|
NM_002471.4(MYH6):c.1522G>C (p.Glu508Gln)
|
|
|
NM_002471.4(MYH6):c.1531T>A (p.Phe511Ile)
|
|
|
NM_002471.4(MYH6):c.1555C>T (p.Gln519Ter)
|
|
|
NM_002471.4(MYH6):c.1600A>G (p.Ile534Val)
|
|
|
NM_002471.4(MYH6):c.1633A>G (p.Thr545Ala)
|
|
|
NM_002471.4(MYH6):c.1637A>T (p.Asp546Val)
|
rs1290826704
|
|
NM_002471.4(MYH6):c.1639A>T (p.Met547Leu)
|
|
|
NM_002471.4(MYH6):c.1650G>C (p.Lys550Asn)
|
|
|
NM_002471.4(MYH6):c.1708A>T (p.Ile570Phe)
|
rs1595060558
|
|
NM_002471.4(MYH6):c.175del (p.Val59fs)
|
|
|
NM_002471.4(MYH6):c.1789A>G (p.Lys597Glu)
|
|
|
NM_002471.4(MYH6):c.1794C>A (p.Asn598Lys)
|
|
|
NM_002471.4(MYH6):c.1817T>C (p.Val606Ala)
|
|
|
NM_002471.4(MYH6):c.1854G>A (p.Met618Ile)
|
|
|
NM_002471.4(MYH6):c.1854G>T (p.Met618Ile)
|
|
|
NM_002471.4(MYH6):c.1868CCT[1] (p.Ser624del)
|
rs1183656896
|
|
NM_002471.4(MYH6):c.1907G>A (p.Ser636Asn)
|
|
|
NM_002471.4(MYH6):c.1934C>T (p.Ser645Phe)
|
|
|
NM_002471.4(MYH6):c.1946T>C (p.Val649Ala)
|
|
|
NM_002471.4(MYH6):c.1949C>T (p.Ser650Leu)
|
rs372300127
|
|
NM_002471.4(MYH6):c.1988A>G (p.Asn663Ser)
|
|
|
NM_002471.4(MYH6):c.2002C>T (p.His668Tyr)
|
rs1351249262
|
|
NM_002471.4(MYH6):c.2012T>C (p.Phe671Ser)
|
|
|
NM_002471.4(MYH6):c.2026A>T (p.Ile676Phe)
|
|
|
NM_002471.4(MYH6):c.2028C>G (p.Ile676Met)
|
|
|
NM_002471.4(MYH6):c.2038C>T (p.Arg680Trp)
|
|
|
NM_002471.4(MYH6):c.2044G>A (p.Ala682Thr)
|
|
|
NM_002471.4(MYH6):c.204G>A (p.Thr68=)
|
|
|
NM_002471.4(MYH6):c.2050+3G>A
|
|
|
NM_002471.4(MYH6):c.2068C>A (p.Leu690Met)
|
|
|
NM_002471.4(MYH6):c.2068del (p.Leu690fs)
|
rs779614256
|
|
NM_002471.4(MYH6):c.206T>A (p.Val69Glu)
|
|
|
NM_002471.4(MYH6):c.2104G>C (p.Glu702Gln)
|
|
|
NM_002471.4(MYH6):c.2114G>A (p.Arg705His)
|
rs754654593
|
|
NM_002471.4(MYH6):c.2119T>G (p.Cys707Gly)
|
|
|
NM_002471.4(MYH6):c.2141G>T (p.Arg714Leu)
|
rs776602843
|
|
NM_002471.4(MYH6):c.2143A>G (p.Ile715Val)
|
|
|
NM_002471.4(MYH6):c.2185C>T (p.Pro729Ser)
|
rs2138604067
|
|
NM_002471.4(MYH6):c.2212A>G (p.Ile738Val)
|
|
|
NM_002471.4(MYH6):c.2242C>T (p.Leu748Phe)
|
|
|
NM_002471.4(MYH6):c.2247C>G (p.Ser749Arg)
|
|
|
NM_002471.4(MYH6):c.2249C>T (p.Ser750Phe)
|
|
|
NM_002471.4(MYH6):c.2272T>A (p.Tyr758Asn)
|
|
|
NM_002471.4(MYH6):c.2312T>G (p.Leu771Arg)
|
|
|
NM_002471.4(MYH6):c.2335C>T (p.Arg779Trp)
|
|
|
NM_002471.4(MYH6):c.2338G>A (p.Asp780Asn)
|
|
|
NM_002471.4(MYH6):c.2368A>C (p.Met790Leu)
|
|
|
NM_002471.4(MYH6):c.2369T>C (p.Met790Thr)
|
|
|
NM_002471.4(MYH6):c.2374G>A (p.Ala792Thr)
|
|
|
NM_002471.4(MYH6):c.2399G>T (p.Arg800Leu)
|
rs535438755
|
|
NM_002471.4(MYH6):c.2401A>T (p.Ile801Phe)
|
rs75487328
|
|
NM_002471.4(MYH6):c.2402T>C (p.Ile801Thr)
|
rs1447782770
|
|
NM_002471.4(MYH6):c.2406G>C (p.Glu802Asp)
|
rs1566511224
|
|
NM_002471.4(MYH6):c.2407T>C (p.Phe803Leu)
|
|
|
NM_002471.4(MYH6):c.2419G>T (p.Val807Leu)
|
|
|
NM_002471.4(MYH6):c.2425C>T (p.Arg809Cys)
|
|
|
NM_002471.4(MYH6):c.2430-5G>A
|
|
|
NM_002471.4(MYH6):c.2432A>T (p.Asp811Val)
|
|
|
NM_002471.4(MYH6):c.2440C>A (p.Leu814Met)
|
rs150675144
|
|
NM_002471.4(MYH6):c.2440del (p.Leu814fs)
|
|
|
NM_002471.4(MYH6):c.245C>T (p.Pro82Leu)
|
rs529427223
|
|
NM_002471.4(MYH6):c.2494A>G (p.Met832Val)
|
|
|
NM_002471.4(MYH6):c.2529G>C (p.Lys843Asn)
|
|
|
NM_002471.4(MYH6):c.252C>A (p.Phe84Leu)
|
|
|
NM_002471.4(MYH6):c.2572T>G (p.Phe858Val)
|
rs2138599736
|
|
NM_002471.4(MYH6):c.2575G>A (p.Gly859Arg)
|
rs369274077
|
|
NM_002471.4(MYH6):c.2575G>T (p.Gly859Trp)
|
rs369274077
|
|
NM_002471.4(MYH6):c.2578C>T (p.Arg860Cys)
|
rs1025146248
|
|
NM_002471.4(MYH6):c.2587G>C (p.Glu863Gln)
|
|
|
NM_002471.4(MYH6):c.2597A>G (p.Glu866Gly)
|
rs886039171
|
|
NM_002471.4(MYH6):c.2636T>C (p.Met879Thr)
|
|
|
NM_002471.4(MYH6):c.2637G>T (p.Met879Ile)
|
|
|
NM_002471.4(MYH6):c.2683G>A (p.Ala895Thr)
|
|
|
NM_002471.4(MYH6):c.2686-5C>T
|
|
|
NM_002471.4(MYH6):c.2701A>G (p.Asn901Asp)
|
|
|
NM_002471.4(MYH6):c.2702A>G (p.Asn901Ser)
|
rs1891315952
|
|
NM_002471.4(MYH6):c.2710G>A (p.Glu904Lys)
|
|
|
NM_002471.4(MYH6):c.2716C>A (p.Arg906Ser)
|
rs143928061
|
|
NM_002471.4(MYH6):c.2717G>A (p.Arg906His)
|
rs527636904
|
|
NM_002471.4(MYH6):c.2717G>T (p.Arg906Leu)
|
rs527636904
|
|
NM_002471.4(MYH6):c.2724C>G (p.Asp908Glu)
|
|
|
NM_002471.4(MYH6):c.2728C>A (p.Leu910Met)
|
|
|
NM_002471.4(MYH6):c.2747A>G (p.Gln916Arg)
|
|
|
NM_002471.4(MYH6):c.2750T>C (p.Leu917Pro)
|
|
|
NM_002471.4(MYH6):c.275T>C (p.Met92Thr)
|
|
|
NM_002471.4(MYH6):c.2771T>A (p.Met924Lys)
|
rs746669440
|
|
NM_002471.4(MYH6):c.2790T>A (p.Asp930Glu)
|
|
|
NM_002471.4(MYH6):c.2791GAG[2] (p.Glu933del)
|
|
|
NM_002471.4(MYH6):c.2806G>A (p.Ala936Thr)
|
rs141704264
|
|
NM_002471.4(MYH6):c.2822A>G (p.Lys941Arg)
|
|
|
NM_002471.4(MYH6):c.2852A>G (p.Glu951Gly)
|
rs1360691146
|
|
NM_002471.4(MYH6):c.2854C>T (p.Leu952Phe)
|
|
|
NM_002471.4(MYH6):c.2884A>G (p.Thr962Ala)
|
|
|
NM_002471.4(MYH6):c.2923A>T (p.Asn975Tyr)
|
rs2138598703
|
|
NM_002471.4(MYH6):c.2925C>A (p.Asn975Lys)
|
|
|
NM_002471.4(MYH6):c.2929-5G>A
|
|
|
NM_002471.4(MYH6):c.2954C>T (p.Ala985Val)
|
|
|
NM_002471.4(MYH6):c.2999C>T (p.Ala1000Val)
|
|
|
NM_002471.4(MYH6):c.3025C>G (p.Leu1009Val)
|
|
|
NM_002471.4(MYH6):c.3049G>A (p.Asp1017Asn)
|
rs1555333948
|
|
NM_002471.4(MYH6):c.304C>A (p.Leu102Ile)
|
|
|
NM_002471.4(MYH6):c.3062G>T (p.Ser1021Ile)
|
|
|
NM_002471.4(MYH6):c.3085C>G (p.Leu1029Val)
|
rs1044563809
|
|
NM_002471.4(MYH6):c.3105+5G>C
|
|
|
NM_002471.4(MYH6):c.3106-4A>T
|
|
|
NM_002471.4(MYH6):c.3136G>C (p.Val1046Leu)
|
|
|
NM_002471.4(MYH6):c.3139C>A (p.Arg1047Ser)
|
|
|
NM_002471.4(MYH6):c.3196G>C (p.Glu1066Gln)
|
|
|
NM_002471.4(MYH6):c.3203T>C (p.Ile1068Thr)
|
rs777320756
|
|
NM_002471.4(MYH6):c.3206T>C (p.Met1069Thr)
|
|
|
NM_002471.4(MYH6):c.3243G>T (p.Lys1081Asn)
|
rs1555333894
|
|
NM_002471.4(MYH6):c.3257A>G (p.Glu1086Gly)
|
|
|
NM_002471.4(MYH6):c.3266T>C (p.Ile1089Thr)
|
|
|
NM_002471.4(MYH6):c.3298C>T (p.Gln1100Ter)
|
|
|
NM_002471.4(MYH6):c.3301G>A (p.Val1101Met)
|
|
|
NM_002471.4(MYH6):c.3343-3del
|
rs1027186100
|
|
NM_002471.4(MYH6):c.3343G>A (p.Ala1115Thr)
|
|
|
NM_002471.4(MYH6):c.3346C>G (p.Arg1116Gly)
|
|
|
NM_002471.4(MYH6):c.3346C>T (p.Arg1116Cys)
|
rs372446459
|
|
NM_002471.4(MYH6):c.3352G>C (p.Glu1118Gln)
|
|
|
NM_002471.4(MYH6):c.3410T>G (p.Leu1137Arg)
|
|
|
NM_002471.4(MYH6):c.3412C>T (p.Arg1138Cys)
|
rs1368246967
|
|
NM_002471.4(MYH6):c.3418G>C (p.Asp1140His)
|
|
|
NM_002471.4(MYH6):c.341T>C (p.Ile114Thr)
|
|
|
NM_002471.4(MYH6):c.3428G>A (p.Arg1143Gln)
|
rs543585784
|
|
NM_002471.4(MYH6):c.342A>G (p.Ile114Met)
|
|
|
NM_002471.4(MYH6):c.3437dup (p.Glu1147fs)
|
rs397516761
|
|
NM_002471.4(MYH6):c.3448G>C (p.Glu1150Gln)
|
|
|
NM_002471.4(MYH6):c.345+3G>C
|
|
|
NM_002471.4(MYH6):c.3451C>T (p.Arg1151Trp)
|
|
|
NM_002471.4(MYH6):c.3455T>C (p.Leu1152Pro)
|
|
|
NM_002471.4(MYH6):c.3460G>C (p.Glu1154Gln)
|
|
|
NM_002471.4(MYH6):c.3466G>A (p.Gly1156Ser)
|
|
|
NM_002471.4(MYH6):c.3469G>T (p.Gly1157Trp)
|
|
|
NM_002471.4(MYH6):c.3481G>T (p.Val1161Leu)
|
|
|
NM_002471.4(MYH6):c.3489C>G (p.Ile1163Met)
|
rs764540332
|
|
NM_002471.4(MYH6):c.3492G>T (p.Glu1164Asp)
|
|
|
NM_002471.4(MYH6):c.3514G>A (p.Glu1172Lys)
|
|
|
NM_002471.4(MYH6):c.3515A>T (p.Glu1172Val)
|
|
|
NM_002471.4(MYH6):c.3542A>T (p.Glu1181Val)
|
|
|
NM_002471.4(MYH6):c.3560A>G (p.His1187Arg)
|
|
|
NM_002471.4(MYH6):c.3578C>T (p.Ala1193Val)
|
rs1038940910
|
|
NM_002471.4(MYH6):c.3583C>A (p.Arg1195Ser)
|
rs769756450
|
|
NM_002471.4(MYH6):c.3586A>T (p.Lys1196Ter)
|
|
|
NM_002471.4(MYH6):c.3598G>A (p.Asp1200Asn)
|
rs372794975
|
|
NM_002471.4(MYH6):c.3601_3605del (p.Ser1201fs)
|
|
|
NM_002471.4(MYH6):c.3641G>A (p.Arg1214Gln)
|
|
|
NM_002471.4(MYH6):c.3671G>A (p.Ser1224Asn)
|
rs1342875025
|
|
NM_002471.4(MYH6):c.3709A>G (p.Met1237Val)
|
|
|
NM_002471.4(MYH6):c.3711G>A (p.Met1237Ile)
|
|
|
NM_002471.4(MYH6):c.3723C>G (p.Ile1241Met)
|
|
|
NM_002471.4(MYH6):c.3732+5G>C
|
rs1891184026
|
|
NM_002471.4(MYH6):c.3733-2A>G
|
|
|
NM_002471.4(MYH6):c.3733-3A>G
|
|
|
NM_002471.4(MYH6):c.3734C>T (p.Ala1245Val)
|
|
|
NM_002471.4(MYH6):c.3754C>T (p.Arg1252Trp)
|
rs2138591811
|
|
NM_002471.4(MYH6):c.3802G>A (p.Ala1268Thr)
|
rs777331087
|
|
NM_002471.4(MYH6):c.3803C>G (p.Ala1268Gly)
|
|
|
NM_002471.4(MYH6):c.3820G>T (p.Asp1274Tyr)
|
|
|
NM_002471.4(MYH6):c.3822T>A (p.Asp1274Glu)
|
|
|
NM_002471.4(MYH6):c.3826A>T (p.Thr1276Ser)
|
|
|
NM_002471.4(MYH6):c.3844C>G (p.Leu1282Val)
|
rs1425090608
|
|
NM_002471.4(MYH6):c.3857A>T (p.Asn1286Ile)
|
rs772586397
|
|
NM_002471.4(MYH6):c.3913C>T (p.Arg1305Trp)
|
|
|
NM_002471.4(MYH6):c.3914G>A (p.Arg1305Gln)
|
|
|
NM_002471.4(MYH6):c.3971A>C (p.Glu1324Ala)
|
|
|
NM_002471.4(MYH6):c.3974G>A (p.Gly1325Asp)
|
|
|
NM_002471.4(MYH6):c.3978+5G>C
|
|
|
NM_002471.4(MYH6):c.3995C>T (p.Ala1332Val)
|
rs876657876
|
|
NM_002471.4(MYH6):c.4013C>T (p.Ala1338Val)
|
|
|
NM_002471.4(MYH6):c.4026C>A (p.Cys1342Ter)
|
rs141062252
|
|
NM_002471.4(MYH6):c.4037G>A (p.Arg1346Gln)
|
|
|
NM_002471.4(MYH6):c.4047C>A (p.Tyr1349Ter)
|
rs570555040
|
|
NM_002471.4(MYH6):c.404A>G (p.Asn135Ser)
|
|
|
NM_002471.4(MYH6):c.4070C>T (p.Ala1357Val)
|
|
|
NM_002471.4(MYH6):c.4072G>A (p.Glu1358Lys)
|
|
|
NM_002471.4(MYH6):c.4081C>T (p.Arg1361Cys)
|
|
|
NM_002471.4(MYH6):c.4087C>A (p.Leu1363Met)
|
|
|
NM_002471.4(MYH6):c.4103C>T (p.Ser1368Leu)
|
rs778374207
|
|
NM_002471.4(MYH6):c.4109T>A (p.Val1370Glu)
|
|
|
NM_002471.4(MYH6):c.4140C>A (p.Asp1380Glu)
|
rs199672166
|
|
NM_002471.4(MYH6):c.4169A>G (p.Glu1390Gly)
|
|
|
NM_002471.4(MYH6):c.416T>C (p.Val139Ala)
|
|
|
NM_002471.4(MYH6):c.4207G>A (p.Glu1403Lys)
|
rs769398160
|
|
NM_002471.4(MYH6):c.4256C>A (p.Thr1419Asn)
|
|
|
NM_002471.4(MYH6):c.427C>G (p.Arg143Gly)
|
|
|
NM_002471.4(MYH6):c.4284G>T (p.Glu1428Asp)
|
|
|
NM_002471.4(MYH6):c.4306C>T (p.Arg1436Cys)
|
rs746893658
|
|
NM_002471.4(MYH6):c.4307G>T (p.Arg1436Leu)
|
|
|
NM_002471.4(MYH6):c.4318G>C (p.Ala1440Pro)
|
rs137983703
|
|
NM_002471.4(MYH6):c.4346G>A (p.Arg1449Lys)
|
|
|
NM_002471.4(MYH6):c.4352T>C (p.Phe1451Ser)
|
|
|
NM_002471.4(MYH6):c.4360-3C>T
|
|
|
NM_002471.4(MYH6):c.4373G>A (p.Trp1458Ter)
|
|
|
NM_002471.4(MYH6):c.4374G>A (p.Trp1458Ter)
|
|
|
NM_002471.4(MYH6):c.437A>G (p.Lys146Arg)
|
rs1555335081
|
|
NM_002471.4(MYH6):c.4390_4391inv (p.Glu1464Ser)
|
|
|
NM_002471.4(MYH6):c.4391A>C (p.Glu1464Ala)
|
|
|
NM_002471.4(MYH6):c.4395_4396delinsAG (p.Gln1466Glu)
|
rs1555333437
|
|
NM_002471.4(MYH6):c.4418A>G (p.Gln1473Arg)
|
|
|
NM_002471.4(MYH6):c.4429C>G (p.Arg1477Gly)
|
rs201989347
|
|
NM_002471.4(MYH6):c.4429C>T (p.Arg1477Cys)
|
rs201989347
|
|
NM_002471.4(MYH6):c.4430G>A (p.Arg1477His)
|
rs147586142
|
|
NM_002471.4(MYH6):c.4476G>C (p.Glu1492Asp)
|
|
|
NM_002471.4(MYH6):c.449C>T (p.Ala150Val)
|
|
|
NM_002471.4(MYH6):c.4511A>G (p.Asn1504Ser)
|
|
|
NM_002471.4(MYH6):c.4512C>A (p.Asn1504Lys)
|
|
|
NM_002471.4(MYH6):c.4594C>G (p.Arg1532Gly)
|
|
|
NM_002471.4(MYH6):c.4595G>A (p.Arg1532His)
|
rs34330111
|
|
NM_002471.4(MYH6):c.4599A>C (p.Lys1533Asn)
|
|
|
NM_002471.4(MYH6):c.4604T>G (p.Leu1535Arg)
|
rs886039002
|
|
NM_002471.4(MYH6):c.4609G>A (p.Val1537Met)
|
|
|
NM_002471.4(MYH6):c.4629G>C (p.Gln1543His)
|
rs1177280918
|
|
NM_002471.4(MYH6):c.4644G>T (p.Glu1548Asp)
|
|
|
NM_002471.4(MYH6):c.4651-5C>T
|
|
|
NM_002471.4(MYH6):c.4665C>A (p.His1555Gln)
|
rs373888186
|
|
NM_002471.4(MYH6):c.4665C>G (p.His1555Gln)
|
|
|
NM_002471.4(MYH6):c.4685G>T (p.Arg1562Leu)
|
rs371068881
|
|
NM_002471.4(MYH6):c.4708A>G (p.Ile1570Val)
|
rs1258827113
|
|
NM_002471.4(MYH6):c.4723G>C (p.Glu1575Gln)
|
|
|
NM_002471.4(MYH6):c.4726C>T (p.Arg1576Trp)
|
|
|
NM_002471.4(MYH6):c.4742A>G (p.Lys1581Arg)
|
|
|
NM_002471.4(MYH6):c.4746C>G (p.Asp1582Glu)
|
|
|
NM_002471.4(MYH6):c.4753A>T (p.Met1585Leu)
|
|
|
NM_002471.4(MYH6):c.4757A>T (p.Glu1586Val)
|
|
|
NM_002471.4(MYH6):c.4768C>T (p.Arg1590Cys)
|
|
|
NM_002471.4(MYH6):c.4794G>A (p.Ser1598=)
|
|
|
NM_002471.4(MYH6):c.4821_4822del (p.Arg1608fs)
|
rs764543612
|
|
NM_002471.4(MYH6):c.4845G>T (p.Arg1615Ser)
|
|
|
NM_002471.4(MYH6):c.4850A>C (p.Lys1617Thr)
|
|
|
NM_002471.4(MYH6):c.4883A>T (p.Glu1628Val)
|
|
|
NM_002471.4(MYH6):c.4891C>T (p.Leu1631Phe)
|
|
|
NM_002471.4(MYH6):c.4925A>C (p.Gln1642Pro)
|
rs1487346307
|
|
NM_002471.4(MYH6):c.4946A>G (p.Gln1649Arg)
|
|
|
NM_002471.4(MYH6):c.4959+5A>G
|
|
|
NM_002471.4(MYH6):c.4975C>G (p.Leu1659Val)
|
|
|
NM_002471.4(MYH6):c.4988T>A (p.Val1663Asp)
|
|
|
NM_002471.4(MYH6):c.5002G>C (p.Asp1668His)
|
rs200884672
|
|
NM_002471.4(MYH6):c.5004C>A (p.Asp1668Glu)
|
|
|
NM_002471.4(MYH6):c.502+3G>A
|
|
|
NM_002471.4(MYH6):c.5032C>T (p.Arg1678Trp)
|
|
|
NM_002471.4(MYH6):c.5050C>T (p.Gln1684Ter)
|
rs1849911056
|
|
NM_002471.4(MYH6):c.5090C>T (p.Thr1697Ile)
|
|
|
NM_002471.4(MYH6):c.5096G>T (p.Arg1699Leu)
|
|
|
NM_002471.4(MYH6):c.5102G>T (p.Arg1701Leu)
|
|
|
NM_002471.4(MYH6):c.5134A>C (p.Ser1712Arg)
|
|
|
NM_002471.4(MYH6):c.5137G>C (p.Glu1713Gln)
|
rs369275573
|
|
NM_002471.4(MYH6):c.5140C>T (p.Arg1714Trp)
|
rs140651265
|
|
NM_002471.4(MYH6):c.5148G>T (p.Gln1716His)
|
|
|
NM_002471.4(MYH6):c.5153T>A (p.Leu1718Gln)
|
|
|
NM_002471.4(MYH6):c.5167A>G (p.Thr1723Ala)
|
|
|
NM_002471.4(MYH6):c.5182C>G (p.Gln1728Glu)
|
|
|
NM_002471.4(MYH6):c.5183AGA[3] (p.Lys1731del)
|
rs886039114
|
|
NM_002471.4(MYH6):c.5192A>T (p.Lys1731Met)
|
rs757373258
|
|
NM_002471.4(MYH6):c.5260G>A (p.Glu1754Lys)
|
rs372270600
|
|
NM_002471.4(MYH6):c.5260G>C (p.Glu1754Gln)
|
rs372270600
|
|
NM_002471.4(MYH6):c.5260GAG[1] (p.Glu1755del)
|
|
|
NM_002471.4(MYH6):c.5264A>G (p.Glu1755Gly)
|
rs2138582278
|
|
NM_002471.4(MYH6):c.5301G>A (p.Met1767Ile)
|
|
|
NM_002471.4(MYH6):c.5307G>C (p.Glu1769Asp)
|
|
|
NM_002471.4(MYH6):c.5335G>T (p.Ala1779Ser)
|
|
|
NM_002471.4(MYH6):c.5336C>T (p.Ala1779Val)
|
|
|
NM_002471.4(MYH6):c.5338C>T (p.His1780Tyr)
|
rs1046257632
|
|
NM_002471.4(MYH6):c.5374A>G (p.Ile1792Val)
|
|
|
NM_002471.4(MYH6):c.5392C>T (p.Arg1798Trp)
|
rs767251436
|
|
NM_002471.4(MYH6):c.5400C>G (p.Asp1800Glu)
|
|
|
NM_002471.4(MYH6):c.5416G>A (p.Ala1806Thr)
|
|
|
NM_002471.4(MYH6):c.5435dup (p.Gln1813fs)
|
rs1324433778
|
|
NM_002471.4(MYH6):c.5439G>T (p.Gln1813His)
|
|
|
NM_002471.4(MYH6):c.5444A>C (p.Gln1815Pro)
|
|
|
NM_002471.4(MYH6):c.544G>A (p.Ala182Thr)
|
|
|
NM_002471.4(MYH6):c.5454A>T (p.Glu1818Asp)
|
|
|
NM_002471.4(MYH6):c.5476G>C (p.Gly1826Arg)
|
rs202141059
|
|
NM_002471.4(MYH6):c.5489C>T (p.Ala1830Val)
|
|
|
NM_002471.4(MYH6):c.5536G>A (p.Glu1846Lys)
|
|
|
NM_002471.4(MYH6):c.5551G>A (p.Glu1851Lys)
|
|
|
NM_002471.4(MYH6):c.5586C>G (p.Asn1862Lys)
|
|
|
NM_002471.4(MYH6):c.5644C>T (p.Arg1882Cys)
|
|
|
NM_002471.4(MYH6):c.5662-2A>G
|
rs2138578417
|
|
NM_002471.4(MYH6):c.5677A>G (p.Thr1893Ala)
|
|
|
NM_002471.4(MYH6):c.5692T>G (p.Phe1898Val)
|
rs762923098
|
|
NM_002471.4(MYH6):c.569G>A (p.Arg190His)
|
rs1891729151
|
|
NM_002471.4(MYH6):c.5743G>A (p.Ala1915Thr)
|
|
|
NM_002471.4(MYH6):c.5791G>A (p.Ala1931Thr)
|
|
|
NM_002471.4(MYH6):c.5792C>T (p.Ala1931Val)
|
|
|
NM_002471.4(MYH6):c.5796+4G>A
|
|
|
NM_002471.4(MYH6):c.616AAG[1] (p.Lys207del)
|
rs1404018896
|
|
NM_002471.4(MYH6):c.631A>T (p.Asn211Tyr)
|
|
|
NM_002471.4(MYH6):c.633T>A (p.Asn211Lys)
|
rs886039039
|
|
NM_002471.4(MYH6):c.642+3G>A
|
rs374013248
|
|
NM_002471.4(MYH6):c.647C>A (p.Thr216Asn)
|
rs1448960877
|
|
NM_002471.4(MYH6):c.689C>T (p.Ala230Val)
|
|
|
NM_002471.4(MYH6):c.745A>G (p.Ile249Val)
|
|
|
NM_002471.4(MYH6):c.754C>T (p.His252Tyr)
|
rs1595063510
|
|
NM_002471.4(MYH6):c.776T>C (p.Leu259Pro)
|
|
|
NM_002471.4(MYH6):c.86G>T (p.Arg29Leu)
|
rs150574114
|
|
NM_002471.4(MYH6):c.880AAG[1] (p.Lys295del)
|
|
|
NM_002471.4(MYH6):c.902T>C (p.Met301Thr)
|
rs1555334802
|
|
NM_002471.4(MYH6):c.92T>C (p.Phe31Ser)
|
|
|
NM_002471.4(MYH6):c.94G>C (p.Asp32His)
|
|
|
NM_002471.4(MYH6):c.968C>G (p.Ser323Cys)
|
|
|
NM_002471.4(MYH6):c.978C>A (p.Asp326Glu)
|
|
|
NM_002471.4(MYH6):c.986A>T (p.Glu329Val)
|
|
|
NM_002474.3(MYH11):c.1115T>C (p.Met372Thr)
|
rs886038835
|
|
NM_002474.3(MYH11):c.1318G>A (p.Val440Met)
|
rs886038900
|
|
NM_002474.3(MYH11):c.2692G>A (p.Ala898Thr)
|
rs772769846
|
|
NM_002474.3(MYH11):c.3358A>G (p.Ile1120Val)
|
rs886038788
|
|
NM_002474.3(MYH11):c.3651+5_3651+11delinsG
|
rs371843272
|
|
NM_002474.3(MYH11):c.811G>A (p.Ala271Thr)
|
rs886038851
|
|
NM_002524.5(NRAS):c.107T>C (p.Ile36Thr)
|
|
|
NM_002524.5(NRAS):c.380C>G (p.Thr127Arg)
|
rs779899354
|
|
NM_002667.5(PLN):c.114C>G (p.Ile38Met)
|
|
|
NM_002667.5(PLN):c.126_127del (p.Leu43fs)
|
|
|
NM_002667.5(PLN):c.131T>C (p.Leu44Pro)
|
rs794729210
|
|
NM_002667.5(PLN):c.150G>A (p.Met50Ile)
|
|
|
NM_002667.5(PLN):c.150_159delinsAC (p.Met50fs)
|
|
|
NM_002667.5(PLN):c.154C>A (p.Leu52Ile)
|
rs2114970391
|
|
NM_002667.5(PLN):c.35T>C (p.Ile12Thr)
|
|
|
NM_002667.5(PLN):c.35dup (p.Arg13fs)
|
|
|
NM_002667.5(PLN):c.38G>A (p.Arg13Lys)
|
|
|
NM_002667.5(PLN):c.56A>G (p.Glu19Gly)
|
rs2114969791
|
|
NM_002667.5(PLN):c.63_64dup (p.Gln22fs)
|
rs794729138
|
|
NM_002667.5(PLN):c.87G>T (p.Gln29His)
|
|
|
NM_002709.3(PPP1CB):c.136C>T (p.Leu46Phe)
|
|
|
NM_002755.4(MAP2K1):c.1067T>C (p.Met356Thr)
|
|
|
NM_002755.4(MAP2K1):c.280A>G (p.Met94Val)
|
|
|
NM_002755.4(MAP2K1):c.43C>G (p.Pro15Ala)
|
|
|
NM_002755.4(MAP2K1):c.801T>A (p.Asp267Glu)
|
|
|
NM_002755.4(MAP2K1):c.877C>G (p.Pro293Ala)
|
|
|
NM_002755.4(MAP2K1):c.950T>C (p.Ile317Thr)
|
|
|
NM_002755.4(MAP2K1):c.95C>T (p.Ala32Val)
|
|
|
NM_002755.4(MAP2K1):c.967C>T (p.Pro323Ser)
|
|
|
NM_002834.5(PTPN11):c.1027C>T (p.Arg343Trp)
|
rs1373621596
|
|
NM_002834.5(PTPN11):c.1093-3C>T
|
|
|
NM_002834.5(PTPN11):c.1144G>A (p.Val382Ile)
|
rs1214510641
|
|
NM_002834.5(PTPN11):c.1148T>C (p.Met383Thr)
|
rs1260386432
|
|
NM_002834.5(PTPN11):c.1232C>T (p.Thr411Met)
|
rs121918467
|
|
NM_002834.5(PTPN11):c.1261C>T (p.Arg421Trp)
|
rs1355732645
|
|
NM_002834.5(PTPN11):c.1320G>C (p.Glu440Asp)
|
|
|
NM_002834.5(PTPN11):c.1349T>C (p.Met450Thr)
|
rs2135912854
|
|
NM_002834.5(PTPN11):c.1448-5C>T
|
rs554790621
|
|
NM_002834.5(PTPN11):c.1495T>G (p.Ser499Ala)
|
|
|
NM_002834.5(PTPN11):c.1540A>G (p.Ile514Val)
|
|
|
NM_002834.5(PTPN11):c.1546A>G (p.Met516Val)
|
|
|
NM_002834.5(PTPN11):c.1552G>T (p.Val518Phe)
|
|
|
NM_002834.5(PTPN11):c.1566T>G (p.Ile522Met)
|
|
|
NM_002834.5(PTPN11):c.1580G>A (p.Arg527His)
|
rs770363146
|
|
NM_002834.5(PTPN11):c.1599+4C>A
|
rs142606486
|
|
NM_002834.5(PTPN11):c.1676C>T (p.Pro559Leu)
|
|
|
NM_002834.5(PTPN11):c.1720G>A (p.Glu574Lys)
|
|
|
NM_002834.5(PTPN11):c.1763A>G (p.Gln588Arg)
|
|
|
NM_002834.5(PTPN11):c.185A>G (p.Tyr62Cys)
|
|
|
NM_002834.5(PTPN11):c.18G>C (p.Trp6Cys)
|
|
|
NM_002834.5(PTPN11):c.205G>A (p.Glu69Lys)
|
rs397507511
|
|
NM_002834.5(PTPN11):c.28A>G (p.Asn10Asp)
|
rs368633510
|
|
NM_002834.5(PTPN11):c.28A>T (p.Asn10Tyr)
|
|
|
NM_002834.5(PTPN11):c.302C>T (p.Pro101Leu)
|
|
|
NM_002834.5(PTPN11):c.397G>A (p.Gly133Ser)
|
|
|
NM_002834.5(PTPN11):c.470A>G (p.Lys157Arg)
|
rs1315568280
|
|
NM_002834.5(PTPN11):c.479G>A (p.Ser160Asn)
|
rs1044076600
|
|
NM_002834.5(PTPN11):c.517C>T (p.Arg173Cys)
|
|
|
NM_002834.5(PTPN11):c.557G>A (p.Arg186Gln)
|
|
|
NM_002834.5(PTPN11):c.575A>G (p.Asp192Gly)
|
rs2135869587
|
|
NM_002834.5(PTPN11):c.710C>T (p.Ala237Val)
|
|
|
NM_002834.5(PTPN11):c.788A>G (p.Tyr263Cys)
|
rs763617831
|
|
NM_002834.5(PTPN11):c.880G>A (p.Asp294Asn)
|
|
|
NM_002834.5(PTPN11):c.889C>G (p.Pro297Ala)
|
|
|
NM_002834.5(PTPN11):c.898C>A (p.Pro300Thr)
|
|
|
NM_002834.5(PTPN11):c.934C>A (p.Pro312Thr)
|
|
|
NM_002834.5(PTPN11):c.950A>G (p.Lys317Arg)
|
|
|
NM_002834.5(PTPN11):c.955A>G (p.Asn319Asp)
|
rs2038531520
|
|
NM_002880.3(RAF1):c.1109_1111delGAG
|
|
|
NM_002880.4(RAF1):c.1019A>G (p.Tyr340Cys)
|
rs2058798881
|
|
NM_002880.4(RAF1):c.113A>C (p.Tyr38Ser)
|
rs576041742
|
|
NM_002880.4(RAF1):c.1148C>A (p.Thr383Asn)
|
|
|
NM_002880.4(RAF1):c.1156C>G (p.Gln386Glu)
|
|
|
NM_002880.4(RAF1):c.1178A>C (p.Glu393Ala)
|
rs886042569
|
|
NM_002880.4(RAF1):c.1271G>A (p.Cys424Tyr)
|
|
|
NM_002880.4(RAF1):c.1301A>G (p.His434Arg)
|
|
|
NM_002880.4(RAF1):c.1324A>G (p.Met442Val)
|
|
|
NM_002880.4(RAF1):c.1342A>G (p.Ile448Val)
|
|
|
NM_002880.4(RAF1):c.1415A>G (p.Asn472Ser)
|
|
|
NM_002880.4(RAF1):c.142C>G (p.Leu48Val)
|
rs752967378
|
|
NM_002880.4(RAF1):c.1442C>T (p.Thr481Ile)
|
|
|
NM_002880.4(RAF1):c.1483C>T (p.Arg495Cys)
|
|
|
NM_002880.4(RAF1):c.1496C>G (p.Ser499Cys)
|
|
|
NM_002880.4(RAF1):c.1564AAC[1] (p.Asn523del)
|
|
|
NM_002880.4(RAF1):c.1564_1566delinsGAT (p.Asn522Asp)
|
|
|
NM_002880.4(RAF1):c.1566C>G (p.Asn522Lys)
|
|
|
NM_002880.4(RAF1):c.1606A>G (p.Ile536Val)
|
|
|
NM_002880.4(RAF1):c.1613T>C (p.Leu538Ser)
|
rs730881011
|
|
NM_002880.4(RAF1):c.1636C>A (p.Leu546Ile)
|
rs1265418262
|
|
NM_002880.4(RAF1):c.1655A>G (p.Asn552Ser)
|
rs775817988
|
|
NM_002880.4(RAF1):c.1656C>G (p.Asn552Lys)
|
|
|
NM_002880.4(RAF1):c.1657A>G (p.Asn553Asp)
|
|
|
NM_002880.4(RAF1):c.1661G>A (p.Arg554Gln)
|
|
|
NM_002880.4(RAF1):c.1668+5G>A
|
|
|
NM_002880.4(RAF1):c.1690G>A (p.Gly564Arg)
|
rs1553609909
|
|
NM_002880.4(RAF1):c.1696G>A (p.Ala566Thr)
|
rs750077934
|
|
NM_002880.4(RAF1):c.169A>G (p.Thr57Ala)
|
|
|
NM_002880.4(RAF1):c.16G>A (p.Gly6Arg)
|
rs1575600689
|
|
NM_002880.4(RAF1):c.1748G>C (p.Arg583Thr)
|
|
|
NM_002880.4(RAF1):c.1802A>G (p.Gln601Arg)
|
rs1398402832
|
|
NM_002880.4(RAF1):c.1811C>G (p.Ser604Cys)
|
|
|
NM_002880.4(RAF1):c.1850A>T (p.Asn617Ile)
|
|
|
NM_002880.4(RAF1):c.1853G>A (p.Arg618Gln)
|
|
|
NM_002880.4(RAF1):c.1864G>A (p.Glu622Lys)
|
|
|
NM_002880.4(RAF1):c.1880G>C (p.Arg627Pro)
|
|
|
NM_002880.4(RAF1):c.188C>T (p.Pro63Leu)
|
|
|
NM_002880.4(RAF1):c.1896G>C (p.Glu632Asp)
|
|
|
NM_002880.4(RAF1):c.1907C>T (p.Ala636Val)
|
|
|
NM_002880.4(RAF1):c.1912A>T (p.Thr638Ser)
|
|
|
NM_002880.4(RAF1):c.218G>A (p.Arg73Gln)
|
rs140884322
|
|
NM_002880.4(RAF1):c.305_307del (p.Leu102del)
|
|
|
NM_002880.4(RAF1):c.309C>G (p.His103Gln)
|
rs1057520880
|
|
NM_002880.4(RAF1):c.310G>C (p.Glu104Gln)
|
|
|
NM_002880.4(RAF1):c.332G>A (p.Arg111His)
|
rs996417348
|
|
NM_002880.4(RAF1):c.356C>T (p.Ala119Val)
|
rs1398525119
|
|
NM_002880.4(RAF1):c.377T>C (p.Leu126Pro)
|
|
|
NM_002880.4(RAF1):c.37A>G (p.Asn13Asp)
|
|
|
NM_002880.4(RAF1):c.38A>G (p.Asn13Ser)
|
|
|
NM_002880.4(RAF1):c.400G>T (p.Val134Phe)
|
|
|
NM_002880.4(RAF1):c.412A>G (p.Thr138Ala)
|
|
|
NM_002880.4(RAF1):c.418A>G (p.Asn140Asp)
|
|
|
NM_002880.4(RAF1):c.419A>G (p.Asn140Ser)
|
rs876657968
|
|
NM_002880.4(RAF1):c.440T>C (p.Leu147Pro)
|
|
|
NM_002880.4(RAF1):c.444G>C (p.Lys148Asn)
|
rs1553614733
|
|
NM_002880.4(RAF1):c.448G>A (p.Ala150Thr)
|
|
|
NM_002880.4(RAF1):c.577C>T (p.Leu193Phe)
|
|
|
NM_002880.4(RAF1):c.580T>A (p.Leu194Ile)
|
|
|
NM_002880.4(RAF1):c.602T>C (p.Ile201Thr)
|
rs369852728
|
|
NM_002880.4(RAF1):c.629C>T (p.Pro210Leu)
|
|
|
NM_002880.4(RAF1):c.641T>C (p.Met214Thr)
|
|
|
NM_002880.4(RAF1):c.644G>A (p.Arg215His)
|
|
|
NM_002880.4(RAF1):c.647G>A (p.Arg216His)
|
rs761703202
|
|
NM_002880.4(RAF1):c.65T>G (p.Phe22Cys)
|
rs2125453485
|
|
NM_002880.4(RAF1):c.672G>T (p.Met224Ile)
|
rs1553614191
|
|
NM_002880.4(RAF1):c.68A>G (p.Asp23Gly)
|
|
|
NM_002880.4(RAF1):c.695A>G (p.Tyr232Cys)
|
|
|
NM_002880.4(RAF1):c.716C>T (p.Thr239Ile)
|
|
|
NM_002880.4(RAF1):c.739T>C (p.Ser247Pro)
|
|
|
NM_002880.4(RAF1):c.752T>A (p.Leu251His)
|
rs1553613787
|
|
NM_002880.4(RAF1):c.784A>C (p.Asn262His)
|
rs1575573204
|
|
NM_002880.4(RAF1):c.784A>T (p.Asn262Tyr)
|
rs1575573204
|
|
NM_002880.4(RAF1):c.834+4A>C
|
rs2058950056
|
|
NM_002880.4(RAF1):c.848G>C (p.Ser283Thr)
|
|
|
NM_002880.4(RAF1):c.868_870delinsACC (p.Pro290Thr)
|
rs2125380943
|
|
NM_002880.4(RAF1):c.887G>T (p.Ser296Ile)
|
rs762326811
|
|
NM_002880.4(RAF1):c.91A>G (p.Thr31Ala)
|
rs1486365900
|
|
NM_002880.4(RAF1):c.930_941del (p.Pro311_Ala314del)
|
|
|
NM_002880.4(RAF1):c.934G>T (p.Val312Leu)
|
|
|
NM_002880.4(RAF1):c.97G>A (p.Val33Ile)
|
rs1575600440
|
|
NM_002880.4(RAF1):c.988A>G (p.Ile330Val)
|
|
|
NM_002890.3(RASA1):c.103C>T (p.Arg35Trp)
|
|
|
NM_002890.3(RASA1):c.1088A>G (p.Asn363Ser)
|
|
|
NM_002890.3(RASA1):c.1228A>G (p.Met410Val)
|
|
|
NM_002890.3(RASA1):c.1235G>A (p.Gly412Glu)
|
|
|
NM_002890.3(RASA1):c.1241G>A (p.Arg414Gln)
|
|
|
NM_002890.3(RASA1):c.1279C>G (p.Arg427Gly)
|
|
|
NM_002890.3(RASA1):c.1358C>T (p.Thr453Ile)
|
|
|
NM_002890.3(RASA1):c.1363G>C (p.Asp455His)
|
|
|
NM_002890.3(RASA1):c.1438T>C (p.Tyr480His)
|
|
|
NM_002890.3(RASA1):c.1477T>G (p.Leu493Val)
|
|
|
NM_002890.3(RASA1):c.1593T>A (p.His531Gln)
|
|
|
NM_002890.3(RASA1):c.1613C>G (p.Pro538Arg)
|
|
|
NM_002890.3(RASA1):c.1654C>T (p.His552Tyr)
|
|
|
NM_002890.3(RASA1):c.1685C>A (p.Pro562Gln)
|
|
|
NM_002890.3(RASA1):c.1762A>C (p.Lys588Gln)
|
rs2112480128
|
|
NM_002890.3(RASA1):c.1774C>A (p.Gln592Lys)
|
rs1173108838
|
|
NM_002890.3(RASA1):c.1859T>C (p.Leu620Pro)
|
rs1554049169
|
|
NM_002890.3(RASA1):c.193G>C (p.Ala65Pro)
|
|
|
NM_002890.3(RASA1):c.19G>A (p.Gly7Ser)
|
|
|
NM_002890.3(RASA1):c.2006A>G (p.Asp669Gly)
|
|
|
NM_002890.3(RASA1):c.2036G>A (p.Arg679Gln)
|
|
|
NM_002890.3(RASA1):c.2089C>A (p.Pro697Thr)
|
rs759711265
|
|
NM_002890.3(RASA1):c.2106A>C (p.Glu702Asp)
|
|
|
NM_002890.3(RASA1):c.2170A>G (p.Ser724Gly)
|
|
|
NM_002890.3(RASA1):c.226T>G (p.Ser76Ala)
|
|
|
NM_002890.3(RASA1):c.226_227delinsAT (p.Ser76Ile)
|
|
|
NM_002890.3(RASA1):c.2281C>T (p.Leu761Phe)
|
|
|
NM_002890.3(RASA1):c.22A>C (p.Ser8Arg)
|
|
|
NM_002890.3(RASA1):c.2323G>A (p.Asp775Asn)
|
|
|
NM_002890.3(RASA1):c.23G>T (p.Ser8Ile)
|
|
|
NM_002890.3(RASA1):c.2410G>A (p.Ala804Thr)
|
rs2112495606
|
|
NM_002890.3(RASA1):c.241C>G (p.Leu81Val)
|
rs773960170
|
|
NM_002890.3(RASA1):c.2449T>C (p.Ser817Pro)
|
rs1252322867
|
|
NM_002890.3(RASA1):c.244G>C (p.Gly82Arg)
|
|
|
NM_002890.3(RASA1):c.2452A>G (p.Ile818Val)
|
|
|
NM_002890.3(RASA1):c.2467G>C (p.Glu823Gln)
|
|
|
NM_002890.3(RASA1):c.250G>C (p.Ala84Pro)
|
|
|
NM_002890.3(RASA1):c.2532T>A (p.Asn844Lys)
|
|
|
NM_002890.3(RASA1):c.253G>A (p.Gly85Arg)
|
rs754858818
|
|
NM_002890.3(RASA1):c.262G>A (p.Gly88Arg)
|
rs369735817
|
|
NM_002890.3(RASA1):c.262G>T (p.Gly88Trp)
|
|
|
NM_002890.3(RASA1):c.2693G>T (p.Gly898Val)
|
|
|
NM_002890.3(RASA1):c.2741T>A (p.Met914Lys)
|
|
|
NM_002890.3(RASA1):c.2764C>T (p.Pro922Ser)
|
|
|
NM_002890.3(RASA1):c.27G>T (p.Glu9Asp)
|
rs1205377315
|
|
NM_002890.3(RASA1):c.2941C>G (p.Pro981Ala)
|
|
|
NM_002890.3(RASA1):c.2978G>A (p.Arg993His)
|
|
|
NM_002890.3(RASA1):c.340A>G (p.Met114Val)
|
|
|
NM_002890.3(RASA1):c.344C>T (p.Ala115Val)
|
|
|
NM_002890.3(RASA1):c.352A>G (p.Lys118Glu)
|
rs1580179229
|
|
NM_002890.3(RASA1):c.407C>T (p.Pro136Leu)
|
rs769463654
|
|
NM_002890.3(RASA1):c.431C>T (p.Pro144Leu)
|
rs1753694671
|
|
NM_002890.3(RASA1):c.434C>A (p.Pro145His)
|
|
|
NM_002890.3(RASA1):c.446G>A (p.Gly149Asp)
|
|
|
NM_002890.3(RASA1):c.451G>C (p.Gly151Arg)
|
|
|
NM_002890.3(RASA1):c.484C>G (p.Pro162Ala)
|
|
|
NM_002890.3(RASA1):c.503A>T (p.Glu168Val)
|
|
|
NM_002890.3(RASA1):c.532A>T (p.Thr178Ser)
|
rs150804394
|
|
NM_002890.3(RASA1):c.67G>A (p.Ala23Thr)
|
|
|
NM_002890.3(RASA1):c.800A>C (p.Lys267Thr)
|
|
|
NM_002890.3(RASA1):c.903C>G (p.Phe301Leu)
|
|
|
NM_002890.3(RASA1):c.954G>A (p.Met318Ile)
|
|
|
NM_003098.3(SNTA1):c.-3_6del (p.Met1_Ala2del)
|
rs1555822209
|
|
NM_003098.3(SNTA1):c.1015del (p.Arg339fs)
|
|
|
NM_003098.3(SNTA1):c.1018A>G (p.Thr340Ala)
|
|
|
NM_003098.3(SNTA1):c.1061C>A (p.Ser354Tyr)
|
rs1200381592
|
|
NM_003098.3(SNTA1):c.1081G>A (p.Asp361Asn)
|
|
|
NM_003098.3(SNTA1):c.1099G>C (p.Ala367Pro)
|
|
|
NM_003098.3(SNTA1):c.1114A>T (p.Thr372Ser)
|
|
|
NM_003098.3(SNTA1):c.1133C>T (p.Thr378Ile)
|
|
|
NM_003098.3(SNTA1):c.114C>A (p.Asp38Glu)
|
rs780018849
|
|
NM_003098.3(SNTA1):c.115G>A (p.Val39Met)
|
rs755986911
|
|
NM_003098.3(SNTA1):c.1213G>T (p.Glu405Ter)
|
|
|
NM_003098.3(SNTA1):c.1238-1G>T
|
|
|
NM_003098.3(SNTA1):c.1244C>T (p.Thr415Met)
|
rs533902889
|
|
NM_003098.3(SNTA1):c.1258C>T (p.Pro420Ser)
|
|
|
NM_003098.3(SNTA1):c.1287G>C (p.Lys429Asn)
|
rs955414123
|
|
NM_003098.3(SNTA1):c.133G>A (p.Ala45Thr)
|
|
|
NM_003098.3(SNTA1):c.1361A>G (p.Gln454Arg)
|
|
|
NM_003098.3(SNTA1):c.1419C>T (p.Gly473=)
|
|
|
NM_003098.3(SNTA1):c.1426-1G>A
|
|
|
NM_003098.3(SNTA1):c.1450A>G (p.Lys484Glu)
|
|
|
NM_003098.3(SNTA1):c.1471C>T (p.His491Tyr)
|
|
|
NM_003098.3(SNTA1):c.1499G>A (p.Arg500His)
|
|
|
NM_003098.3(SNTA1):c.149G>A (p.Gly50Asp)
|
|
|
NM_003098.3(SNTA1):c.157C>G (p.Pro53Ala)
|
|
|
NM_003098.3(SNTA1):c.178G>A (p.Glu60Lys)
|
|
|
NM_003098.3(SNTA1):c.190C>G (p.Leu64Val)
|
|
|
NM_003098.3(SNTA1):c.242T>C (p.Leu81Pro)
|
rs2146814680
|
|
NM_003098.3(SNTA1):c.277G>A (p.Ala93Thr)
|
rs886056627
|
|
NM_003098.3(SNTA1):c.280G>C (p.Asp94His)
|
rs786205844
|
|
NM_003098.3(SNTA1):c.286G>A (p.Gly96Ser)
|
|
|
NM_003098.3(SNTA1):c.304dup (p.Ile102fs)
|
|
|
NM_003098.3(SNTA1):c.338T>G (p.Leu113Arg)
|
|
|
NM_003098.3(SNTA1):c.340A>T (p.Ile114Phe)
|
|
|
NM_003098.3(SNTA1):c.346A>G (p.Lys116Glu)
|
|
|
NM_003098.3(SNTA1):c.377C>T (p.Thr126Ile)
|
|
|
NM_003098.3(SNTA1):c.386T>C (p.Leu129Pro)
|
|
|
NM_003098.3(SNTA1):c.454G>A (p.Val152Met)
|
|
|
NM_003098.3(SNTA1):c.476G>A (p.Gly159Asp)
|
|
|
NM_003098.3(SNTA1):c.500A>G (p.Lys167Arg)
|
|
|
NM_003098.3(SNTA1):c.521C>T (p.Pro174Leu)
|
|
|
NM_003098.3(SNTA1):c.590G>T (p.Arg197Leu)
|
|
|
NM_003098.3(SNTA1):c.602C>T (p.Ser201Phe)
|
|
|
NM_003098.3(SNTA1):c.614C>T (p.Thr205Ile)
|
|
|
NM_003098.3(SNTA1):c.702G>T (p.Arg234Ser)
|
|
|
NM_003098.3(SNTA1):c.751G>A (p.Ala251Thr)
|
|
|
NM_003098.3(SNTA1):c.761A>G (p.Glu254Gly)
|
|
|
NM_003098.3(SNTA1):c.770C>T (p.Ala257Val)
|
rs56157422
|
|
NM_003098.3(SNTA1):c.77A>G (p.Glu26Gly)
|
|
|
NM_003098.3(SNTA1):c.793C>T (p.Gln265Ter)
|
rs373610918
|
|
NM_003098.3(SNTA1):c.860G>A (p.Ser287Asn)
|
rs780098159
|
|
NM_003098.3(SNTA1):c.869G>A (p.Gly290Glu)
|
|
|
NM_003098.3(SNTA1):c.896_899del (p.Gly298_Trp299insTer)
|
|
|
NM_003098.3(SNTA1):c.920G>C (p.Gly307Ala)
|
|
|
NM_003098.3(SNTA1):c.938T>C (p.Leu313Pro)
|
|
|
NM_003098.3(SNTA1):c.94C>A (p.Leu32Met)
|
|
|
NM_003098.3(SNTA1):c.985G>A (p.Glu329Lys)
|
|
|
NM_003242.6(TGFBR2):c.1334C>A (p.Thr445Asn)
|
rs886038936
|
|
NM_003242.6(TGFBR2):c.1565A>T (p.Asp522Val)
|
rs886038768
|
|
NM_003242.6(TGFBR2):c.902A>G (p.His301Arg)
|
rs863223857
|
|
NM_003280.3(TNNC1):c.116A>G (p.Lys39Arg)
|
|
|
NM_003280.3(TNNC1):c.154C>T (p.Pro52Ser)
|
|
|
NM_003280.3(TNNC1):c.155C>G (p.Pro52Arg)
|
rs730881065
|
|
NM_003280.3(TNNC1):c.158C>A (p.Thr53Asn)
|
|
|
NM_003280.3(TNNC1):c.17A>G (p.Lys6Arg)
|
rs2153230085
|
|
NM_003280.3(TNNC1):c.184G>A (p.Asp62Asn)
|
rs1040079072
|
|
NM_003280.3(TNNC1):c.212C>T (p.Thr71Met)
|
rs1706331809
|
|
NM_003280.3(TNNC1):c.225T>G (p.Asp75Glu)
|
|
|
NM_003280.3(TNNC1):c.230del (p.Phe77fs)
|
|
|
NM_003280.3(TNNC1):c.241A>T (p.Met81Leu)
|
|
|
NM_003280.3(TNNC1):c.25G>A (p.Val9Ile)
|
rs1578264552
|
|
NM_003280.3(TNNC1):c.341T>G (p.Leu114Arg)
|
rs2153229918
|
|
NM_003280.3(TNNC1):c.400G>A (p.Glu134Lys)
|
rs1553651640
|
|
NM_003280.3(TNNC1):c.412A>G (p.Lys138Glu)
|
|
|
NM_003280.3(TNNC1):c.416A>G (p.Asp139Gly)
|
|
|
NM_003280.3(TNNC1):c.424_425del (p.Lys142fs)
|
|
|
NM_003280.3(TNNC1):c.440G>A (p.Arg147His)
|
rs769919235
|
|
NM_003280.3(TNNC1):c.456G>C (p.Glu152Asp)
|
rs568828576
|
|
NM_003280.3(TNNC1):c.53A>C (p.Asn18Thr)
|
|
|
NM_003280.3(TNNC1):c.5A>G (p.Asp2Gly)
|
rs397516850
|
|
NM_003280.3(TNNC1):c.65C>T (p.Ala22Val)
|
|
|
NM_003280.3(TNNC1):c.94G>A (p.Glu32Lys)
|
rs1553651750
|
|
NM_003319.4(TTN):c.19326_19406del (p.Lys6442_His6469delinsAsn)
|
rs1553713878
|
|
NM_003319.4:c.46274_57364del
|
|
|
NM_003476.5(CSRP3):c.10_11del (p.Trp4fs)
|
rs1554968150
|
|
NM_003476.5(CSRP3):c.116C>A (p.Ala39Asp)
|
rs748417030
|
|
NM_003476.5(CSRP3):c.136A>T (p.Ser46Cys)
|
|
|
NM_003476.5(CSRP3):c.149C>T (p.Ala50Val)
|
rs139805841
|
|
NM_003476.5(CSRP3):c.161C>T (p.Ser54Leu)
|
|
|
NM_003476.5(CSRP3):c.163G>A (p.Glu55Lys)
|
|
|
NM_003476.5(CSRP3):c.172T>G (p.Cys58Gly)
|
rs104894204
|
|
NM_003476.5(CSRP3):c.190C>A (p.Arg64Ser)
|
|
|
NM_003476.5(CSRP3):c.200G>A (p.Gly67Asp)
|
|
|
NM_003476.5(CSRP3):c.208G>T (p.Gly70Trp)
|
rs777211110
|
|
NM_003476.5(CSRP3):c.209G>T (p.Gly70Val)
|
|
|
NM_003476.5(CSRP3):c.229G>T (p.Ala77Ser)
|
rs746207
|
|
NM_003476.5(CSRP3):c.233G>T (p.Gly78Val)
|
rs963128995
|
|
NM_003476.5(CSRP3):c.236G>C (p.Cys79Ser)
|
|
|
NM_003476.5(CSRP3):c.251C>G (p.Thr84Arg)
|
|
|
NM_003476.5(CSRP3):c.259C>T (p.His87Tyr)
|
|
|
NM_003476.5(CSRP3):c.265G>A (p.Gly89Ser)
|
rs367827746
|
|
NM_003476.5(CSRP3):c.286_287del (p.Pro96fs)
|
rs960577385
|
|
NM_003476.5(CSRP3):c.311C>A (p.Thr104Asn)
|
|
|
NM_003476.5(CSRP3):c.329del (p.Phe110fs)
|
rs2133508524
|
|
NM_003476.5(CSRP3):c.334G>C (p.Ala112Pro)
|
rs727504905
|
|
NM_003476.5(CSRP3):c.335C>A (p.Ala112Glu)
|
|
|
NM_003476.5(CSRP3):c.377C>A (p.Ser126Ter)
|
|
|
NM_003476.5(CSRP3):c.37T>C (p.Cys13Arg)
|
rs1257113692
|
|
NM_003476.5(CSRP3):c.3G>A (p.Met1Ile)
|
|
|
NM_003476.5(CSRP3):c.403G>A (p.Gly135Arg)
|
rs1850522271
|
|
NM_003476.5(CSRP3):c.415-2A>C
|
rs1850502742
|
|
NM_003476.5(CSRP3):c.424A>G (p.Lys142Glu)
|
rs2133506962
|
|
NM_003476.5(CSRP3):c.439T>C (p.Cys147Arg)
|
rs2133506925
|
|
NM_003476.5(CSRP3):c.455A>G (p.Lys152Arg)
|
|
|
NM_003476.5(CSRP3):c.457_458del (p.Leu154fs)
|
rs748393033
|
|
NM_003476.5(CSRP3):c.458G>T (p.Ser153Ile)
|
|
|
NM_003476.5(CSRP3):c.496C>G (p.Leu166Val)
|
|
|
NM_003476.5(CSRP3):c.4C>T (p.Pro2Ser)
|
|
|
NM_003476.5(CSRP3):c.511T>C (p.Cys171Arg)
|
|
|
NM_003476.5(CSRP3):c.532C>G (p.Pro178Ala)
|
rs749002955
|
|
NM_003476.5(CSRP3):c.539G>T (p.Gly180Val)
|
rs727504899
|
|
NM_003476.5(CSRP3):c.541A>G (p.Ile181Val)
|
|
|
NM_003476.5(CSRP3):c.572A>T (p.Glu191Val)
|
|
|
NM_003476.5(CSRP3):c.575del (p.Lys192fs)
|
rs1554967246
|
|
NM_003476.5(CSRP3):c.580G>C (p.Glu194Gln)
|
|
|
NM_003476.5(CSRP3):c.583T>A (p.Ter195Arg)
|
rs774359383
|
|
NM_003476.5(CSRP3):c.64G>T (p.Glu22Ter)
|
|
|
NM_003476.5(CSRP3):c.72G>C (p.Gln24His)
|
|
|
NM_003476.5(CSRP3):c.88T>C (p.Phe30Leu)
|
rs2133516315
|
|
NM_003480.4(MFAP5):c.-2-1G>A
|
|
|
NM_003480.4(MFAP5):c.112A>T (p.Thr38Ser)
|
|
|
NM_003480.4(MFAP5):c.137C>T (p.Pro46Leu)
|
|
|
NM_003480.4(MFAP5):c.140-3C>A
|
|
|
NM_003480.4(MFAP5):c.143T>C (p.Leu48Pro)
|
|
|
NM_003480.4(MFAP5):c.14G>A (p.Gly5Glu)
|
|
|
NM_003480.4(MFAP5):c.172+1del
|
rs1464656353
|
|
NM_003480.4(MFAP5):c.19A>G (p.Lys7Glu)
|
|
|
NM_003480.4(MFAP5):c.250T>G (p.Cys84Gly)
|
|
|
NM_003480.4(MFAP5):c.259G>A (p.Glu87Lys)
|
|
|
NM_003480.4(MFAP5):c.261G>C (p.Glu87Asp)
|
|
|
NM_003480.4(MFAP5):c.271T>C (p.Cys91Arg)
|
|
|
NM_003480.4(MFAP5):c.279G>T (p.Arg93Ser)
|
|
|
NM_003480.4(MFAP5):c.295C>T (p.Arg99Trp)
|
|
|
NM_003480.4(MFAP5):c.30G>C (p.Leu10=)
|
|
|
NM_003480.4(MFAP5):c.336-3C>T
|
|
|
NM_003480.4(MFAP5):c.352A>G (p.Ile118Val)
|
|
|
NM_003480.4(MFAP5):c.353T>C (p.Ile118Thr)
|
|
|
NM_003480.4(MFAP5):c.362A>C (p.Lys121Thr)
|
|
|
NM_003480.4(MFAP5):c.386G>A (p.Cys129Tyr)
|
|
|
NM_003480.4(MFAP5):c.393A>T (p.Glu131Asp)
|
|
|
NM_003480.4(MFAP5):c.395A>G (p.His132Arg)
|
|
|
NM_003480.4(MFAP5):c.415C>T (p.Leu139Phe)
|
|
|
NM_003480.4(MFAP5):c.421C>T (p.Arg141Cys)
|
|
|
NM_003480.4(MFAP5):c.422G>A (p.Arg141His)
|
|
|
NM_003480.4(MFAP5):c.422G>T (p.Arg141Leu)
|
|
|
NM_003480.4(MFAP5):c.430G>T (p.Ala144Ser)
|
|
|
NM_003480.4(MFAP5):c.446G>T (p.Arg149Met)
|
|
|
NM_003480.4(MFAP5):c.451C>T (p.Leu151Phe)
|
|
|
NM_003480.4(MFAP5):c.454C>A (p.Arg152Ser)
|
|
|
NM_003480.4(MFAP5):c.458G>A (p.Arg153His)
|
|
|
NM_003480.4(MFAP5):c.7C>T (p.Leu3Phe)
|
|
|
NM_003673.4(TCAP):c.107A>G (p.Glu36Gly)
|
|
|
NM_003673.4(TCAP):c.126GGA[1] (p.Glu43del)
|
rs1221886757
|
|
NM_003673.4(TCAP):c.172C>G (p.Gln58Glu)
|
|
|
NM_003673.4(TCAP):c.188G>A (p.Arg63His)
|
|
|
NM_003673.4(TCAP):c.19A>G (p.Ser7Gly)
|
|
|
NM_003673.4(TCAP):c.223G>T (p.Gly75Cys)
|
|
|
NM_003673.4(TCAP):c.263T>A (p.Val88Glu)
|
|
|
NM_003673.4(TCAP):c.271C>A (p.Leu91Met)
|
|
|
NM_003673.4(TCAP):c.305C>T (p.Thr102Ile)
|
|
|
NM_003673.4(TCAP):c.310GAG[1] (p.Glu105del)
|
rs748506107
|
|
NM_003673.4(TCAP):c.313G>A (p.Glu105Lys)
|
rs146906267
|
|
NM_003673.4(TCAP):c.317G>T (p.Arg106Leu)
|
rs576098128
|
|
NM_003673.4(TCAP):c.330del (p.Ile111fs)
|
rs2057251924
|
|
NM_003673.4(TCAP):c.34_48dup (p.Glu16_Arg17insGluGluAsnCysGlu)
|
|
|
NM_003673.4(TCAP):c.382G>C (p.Val128Leu)
|
|
|
NM_003673.4(TCAP):c.445C>G (p.Pro149Ala)
|
rs932397209
|
|
NM_003673.4(TCAP):c.452_453delinsTC (p.Ala151Val)
|
rs2057253289
|
|
NM_003673.4(TCAP):c.466_477del (p.Leu156_Ser159del)
|
|
|
NM_003673.4(TCAP):c.469T>A (p.Ser157Thr)
|
|
|
NM_003673.4(TCAP):c.472C>T (p.Arg158Cys)
|
rs397516863
|
|
NM_003673.4(TCAP):c.493_494del (p.Gln165fs)
|
|
|
NM_003673.4(TCAP):c.50G>C (p.Arg17Pro)
|
rs750796201
|
|
NM_003673.4(TCAP):c.50_51delinsCT (p.Arg17Pro)
|
rs1555606961
|
|
NM_003673.4(TCAP):c.94A>T (p.Thr32Ser)
|
|
|
NM_003803.4(MYOM1):c.251G>C (p.Arg84Pro)
|
rs756788476
|
|
NM_004006.3(DMD):c.10033C>G (p.Arg3345Gly)
|
rs398123827
|
|
NM_004006.3(DMD):c.10068G>A (p.Met3356Ile)
|
|
|
NM_004006.3(DMD):c.10088C>G (p.Thr3363Ser)
|
|
|
NM_004006.3(DMD):c.10224-3C>T
|
|
|
NM_004006.3(DMD):c.10261G>T (p.Ala3421Ser)
|
|
|
NM_004006.3(DMD):c.10307G>A (p.Arg3436His)
|
|
|
NM_004006.3(DMD):c.10450C>T (p.Pro3484Ser)
|
|
|
NM_004006.3(DMD):c.10624C>G (p.Pro3542Ala)
|
|
|
NM_004006.3(DMD):c.10652A>G (p.Gln3551Arg)
|
|
|
NM_004006.3(DMD):c.10830G>A (p.Thr3610=)
|
rs113604000
|
|
NM_004006.3(DMD):c.10831G>T (p.Val3611Leu)
|
|
|
NM_004006.3(DMD):c.10843_10845del (p.Ser3615del)
|
rs751391426
|
|
NM_004006.3(DMD):c.10929A>C (p.Glu3643Asp)
|
|
|
NM_004006.3(DMD):c.10932TCT[1] (p.Leu3646del)
|
rs2147775174
|
|
NM_004006.3(DMD):c.10978A>G (p.Met3660Val)
|
|
|
NM_004006.3(DMD):c.1114G>A (p.Val372Met)
|
|
|
NM_004006.3(DMD):c.1132C>G (p.Gln378Glu)
|
rs1556876203
|
|
NM_004006.3(DMD):c.1179G>C (p.Gln393His)
|
|
|
NM_004006.3(DMD):c.1275T>A (p.Asn425Lys)
|
|
|
NM_004006.3(DMD):c.1310C>A (p.Ala437Asp)
|
rs1556875180
|
|
NM_004006.3(DMD):c.1412C>A (p.Thr471Lys)
|
|
|
NM_004006.3(DMD):c.1447C>T (p.Leu483Phe)
|
|
|
NM_004006.3(DMD):c.1481A>G (p.Lys494Arg)
|
rs1556853018
|
|
NM_004006.3(DMD):c.1519G>A (p.Val507Ile)
|
|
|
NM_004006.3(DMD):c.1537A>G (p.Met513Val)
|
rs368326458
|
|
NM_004006.3(DMD):c.1603-4C>G
|
rs377223643
|
|
NM_004006.3(DMD):c.1648C>A (p.Arg550Ser)
|
|
|
NM_004006.3(DMD):c.1687C>A (p.Arg563Ser)
|
rs145739725
|
|
NM_004006.3(DMD):c.1693A>T (p.Thr565Ser)
|
rs766450050
|
|
NM_004006.3(DMD):c.1760C>T (p.Thr587Ile)
|
rs2052673481
|
|
NM_004006.3(DMD):c.1813-3C>T
|
rs181399181
|
|
NM_004006.3(DMD):c.1847C>A (p.Ser616Tyr)
|
|
|
NM_004006.3(DMD):c.1879CTT[1] (p.Leu628del)
|
rs767034345
|
|
NM_004006.3(DMD):c.1880T>A (p.Leu627His)
|
|
|
NM_004006.3(DMD):c.1889C>A (p.Thr630Lys)
|
rs1057523223
|
|
NM_004006.3(DMD):c.2060C>G (p.Thr687Arg)
|
|
|
NM_004006.3(DMD):c.2084T>G (p.Leu695Arg)
|
rs1556780761
|
|
NM_004006.3(DMD):c.2119C>T (p.Pro707Ser)
|
|
|
NM_004006.3(DMD):c.2222T>C (p.Val741Ala)
|
rs886039135
|
|
NM_004006.3(DMD):c.2273A>G (p.Asp758Gly)
|
rs750526692
|
|
NM_004006.3(DMD):c.2301G>T (p.Glu767Asp)
|
rs2044086255
|
|
NM_004006.3(DMD):c.235A>G (p.Lys79Glu)
|
|
|
NM_004006.3(DMD):c.2400C>A (p.Ser800Arg)
|
rs142115986
|
|
NM_004006.3(DMD):c.2407C>A (p.Gln803Lys)
|
|
|
NM_004006.3(DMD):c.2494A>G (p.Ile832Val)
|
|
|
NM_004006.3(DMD):c.2573C>T (p.Thr858Ile)
|
|
|
NM_004006.3(DMD):c.2600A>G (p.Lys867Arg)
|
|
|
NM_004006.3(DMD):c.2622+3A>G
|
|
|
NM_004006.3(DMD):c.2642C>T (p.Ser881Leu)
|
|
|
NM_004006.3(DMD):c.2662G>A (p.Glu888Lys)
|
|
|
NM_004006.3(DMD):c.2717T>C (p.Phe906Ser)
|
|
|
NM_004006.3(DMD):c.2717T>G (p.Phe906Cys)
|
rs375557173
|
|
NM_004006.3(DMD):c.2734G>A (p.Val912Met)
|
rs201549805
|
|
NM_004006.3(DMD):c.27C>G (p.Asp9Glu)
|
|
|
NM_004006.3(DMD):c.2818C>T (p.Pro940Ser)
|
|
|
NM_004006.3(DMD):c.2819C>T (p.Pro940Leu)
|
|
|
NM_004006.3(DMD):c.2827C>A (p.Arg943Ser)
|
rs199986217
|
|
NM_004006.3(DMD):c.2876A>G (p.Glu959Gly)
|
|
|
NM_004006.3(DMD):c.2899C>T (p.Leu967Phe)
|
rs2040718654
|
|
NM_004006.3(DMD):c.2911G>A (p.Asp971Asn)
|
rs1376043336
|
|
NM_004006.3(DMD):c.2920A>G (p.Ile974Val)
|
|
|
NM_004006.3(DMD):c.2925G>A (p.Met975Ile)
|
|
|
NM_004006.3(DMD):c.2926G>A (p.Glu976Lys)
|
|
|
NM_004006.3(DMD):c.2935C>A (p.Leu979Ile)
|
|
|
NM_004006.3(DMD):c.2942A>G (p.Glu981Gly)
|
rs1557374492
|
|
NM_004006.3(DMD):c.3015G>T (p.Glu1005Asp)
|
|
|
NM_004006.3(DMD):c.3018G>A (p.Met1006Ile)
|
|
|
NM_004006.3(DMD):c.3028G>T (p.Ala1010Ser)
|
|
|
NM_004006.3(DMD):c.3074T>C (p.Ile1025Thr)
|
rs376163041
|
|
NM_004006.3(DMD):c.31+2dup
|
rs2051897744
|
|
NM_004006.3(DMD):c.310C>T (p.His104Tyr)
|
|
|
NM_004006.3(DMD):c.3126G>C (p.Lys1042Asn)
|
rs2040289618
|
|
NM_004006.3(DMD):c.3162G>C (p.Gln1054His)
|
rs1414538851
|
|
NM_004006.3(DMD):c.3220G>A (p.Glu1074Lys)
|
|
|
NM_004006.3(DMD):c.3271T>G (p.Cys1091Gly)
|
rs1569563736
|
|
NM_004006.3(DMD):c.3276+3A>T
|
|
|
NM_004006.3(DMD):c.3318C>G (p.Asn1106Lys)
|
|
|
NM_004006.3(DMD):c.3326A>G (p.Asn1109Ser)
|
rs200596739
|
|
NM_004006.3(DMD):c.3331G>A (p.Gly1111Ser)
|
rs2098390878
|
|
NM_004006.3(DMD):c.3415G>T (p.Asp1139Tyr)
|
|
|
NM_004006.3(DMD):c.3476C>A (p.Thr1159Asn)
|
|
|
NM_004006.3(DMD):c.3573T>G (p.Asp1191Glu)
|
|
|
NM_004006.3(DMD):c.3612A>T (p.Lys1204Asn)
|
|
|
NM_004006.3(DMD):c.3644A>G (p.Lys1215Arg)
|
|
|
NM_004006.3(DMD):c.365A>C (p.Asn122Thr)
|
rs1603437369
|
|
NM_004006.3(DMD):c.365A>G (p.Asn122Ser)
|
|
|
NM_004006.3(DMD):c.3686C>T (p.Pro1229Leu)
|
|
|
NM_004006.3(DMD):c.3789A>T (p.Glu1263Asp)
|
|
|
NM_004006.3(DMD):c.3806A>C (p.His1269Pro)
|
rs775892814
|
|
NM_004006.3(DMD):c.3806A>G (p.His1269Arg)
|
|
|
NM_004006.3(DMD):c.3816G>T (p.Leu1272Phe)
|
rs760733415
|
|
NM_004006.3(DMD):c.3818C>T (p.Ser1273Leu)
|
|
|
NM_004006.3(DMD):c.3901G>A (p.Glu1301Lys)
|
|
|
NM_004006.3(DMD):c.3914T>C (p.Val1305Ala)
|
|
|
NM_004006.3(DMD):c.3919G>A (p.Asp1307Asn)
|
|
|
NM_004006.3(DMD):c.3922T>C (p.Ser1308Pro)
|
|
|
NM_004006.3(DMD):c.3963T>G (p.Asn1321Lys)
|
|
|
NM_004006.3(DMD):c.4019T>C (p.Ile1340Thr)
|
|
|
NM_004006.3(DMD):c.4052G>T (p.Trp1351Leu)
|
|
|
NM_004006.3(DMD):c.4079G>C (p.Arg1360Thr)
|
|
|
NM_004006.3(DMD):c.416T>C (p.Ile139Thr)
|
rs2148807220
|
|
NM_004006.3(DMD):c.4172A>G (p.Lys1391Arg)
|
rs1603632892
|
|
NM_004006.3(DMD):c.4187A>G (p.Tyr1396Cys)
|
|
|
NM_004006.3(DMD):c.4214A>T (p.Gln1405Leu)
|
rs2098142833
|
|
NM_004006.3(DMD):c.4268G>C (p.Ser1423Thr)
|
|
|
NM_004006.3(DMD):c.4296G>C (p.Gln1432His)
|
rs747262903
|
|
NM_004006.3(DMD):c.4296G>T (p.Gln1432His)
|
rs747262903
|
|
NM_004006.3(DMD):c.4307C>A (p.Ala1436Asp)
|
rs886042798
|
|
NM_004006.3(DMD):c.4325C>T (p.Ser1442Phe)
|
|
|
NM_004006.3(DMD):c.4331T>C (p.Ile1444Thr)
|
|
|
NM_004006.3(DMD):c.4345-4dup
|
rs1557322418
|
|
NM_004006.3(DMD):c.4534C>G (p.Leu1512Val)
|
|
|
NM_004006.3(DMD):c.4550C>T (p.Ser1517Phe)
|
|
|
NM_004006.3(DMD):c.4598A>G (p.Lys1533Arg)
|
|
|
NM_004006.3(DMD):c.4633G>A (p.Val1545Ile)
|
|
|
NM_004006.3(DMD):c.4639G>T (p.Ala1547Ser)
|
|
|
NM_004006.3(DMD):c.472A>C (p.Asn158His)
|
rs2148806453
|
|
NM_004006.3(DMD):c.4774A>T (p.Met1592Leu)
|
|
|
NM_004006.3(DMD):c.4831G>A (p.Val1611Ile)
|
|
|
NM_004006.3(DMD):c.4859A>G (p.Glu1620Gly)
|
|
|
NM_004006.3(DMD):c.4870C>G (p.Gln1624Glu)
|
|
|
NM_004006.3(DMD):c.4899G>T (p.Glu1633Asp)
|
rs886044407
|
|
NM_004006.3(DMD):c.4927G>T (p.Gly1643Cys)
|
|
|
NM_004006.3(DMD):c.4942T>G (p.Leu1648Val)
|
rs138472027
|
|
NM_004006.3(DMD):c.4990A>C (p.Thr1664Pro)
|
|
|
NM_004006.3(DMD):c.5025+2T>C
|
|
|
NM_004006.3(DMD):c.5043G>A (p.Met1681Ile)
|
rs1045187121
|
|
NM_004006.3(DMD):c.5047A>C (p.Thr1683Pro)
|
rs1057515873
|
|
NM_004006.3(DMD):c.5058G>C (p.Gln1686His)
|
|
|
NM_004006.3(DMD):c.5085C>G (p.Ile1695Met)
|
|
|
NM_004006.3(DMD):c.5123A>C (p.Lys1708Thr)
|
|
|
NM_004006.3(DMD):c.5149C>A (p.Leu1717Ile)
|
rs769383291
|
|
NM_004006.3(DMD):c.5194G>T (p.Asp1732Tyr)
|
|
|
NM_004006.3(DMD):c.5324_5325delinsGT (p.Lys1775Ser)
|
rs1557303381
|
|
NM_004006.3(DMD):c.5419C>A (p.Leu1807Met)
|
|
|
NM_004006.3(DMD):c.5504A>C (p.Gln1835Pro)
|
|
|
NM_004006.3(DMD):c.5600A>T (p.Gln1867Leu)
|
|
|
NM_004006.3(DMD):c.562T>G (p.Cys188Gly)
|
rs1557047949
|
|
NM_004006.3(DMD):c.5655G>C (p.Gln1885His)
|
|
|
NM_004006.3(DMD):c.5659G>A (p.Asp1887Asn)
|
|
|
NM_004006.3(DMD):c.5729G>A (p.Arg1910Lys)
|
|
|
NM_004006.3(DMD):c.5750G>C (p.Arg1917Pro)
|
rs760528813
|
|
NM_004006.3(DMD):c.5785G>A (p.Val1929Met)
|
|
|
NM_004006.3(DMD):c.5804G>A (p.Gly1935Asp)
|
|
|
NM_004006.3(DMD):c.5852A>C (p.Gln1951Pro)
|
|
|
NM_004006.3(DMD):c.5870G>A (p.Arg1957Gln)
|
|
|
NM_004006.3(DMD):c.5909A>G (p.Asn1970Ser)
|
rs951731570
|
|
NM_004006.3(DMD):c.5910C>G (p.Asn1970Lys)
|
|
|
NM_004006.3(DMD):c.5913T>G (p.Phe1971Leu)
|
|
|
NM_004006.3(DMD):c.5932C>T (p.Arg1978Cys)
|
rs2097557042
|
|
NM_004006.3(DMD):c.5977A>G (p.Ile1993Val)
|
|
|
NM_004006.3(DMD):c.6013A>C (p.Thr2005Pro)
|
|
|
NM_004006.3(DMD):c.6067C>T (p.Leu2023Phe)
|
rs869312948
|
|
NM_004006.3(DMD):c.6084T>G (p.Phe2028Leu)
|
|
|
NM_004006.3(DMD):c.612A>G (p.Arg204=)
|
rs2077190196
|
|
NM_004006.3(DMD):c.6143G>T (p.Ser2048Ile)
|
|
|
NM_004006.3(DMD):c.614A>G (p.Tyr205Cys)
|
|
|
NM_004006.3(DMD):c.6179C>T (p.Thr2060Ile)
|
rs794729000
|
|
NM_004006.3(DMD):c.617A>C (p.Gln206Pro)
|
|
|
NM_004006.3(DMD):c.6196G>T (p.Ala2066Ser)
|
rs1468473458
|
|
NM_004006.3(DMD):c.6197C>T (p.Ala2066Val)
|
|
|
NM_004006.3(DMD):c.6232C>T (p.Leu2078Phe)
|
rs748419295
|
|
NM_004006.3(DMD):c.6241C>T (p.Leu2081Phe)
|
|
|
NM_004006.3(DMD):c.6271A>G (p.Met2091Val)
|
|
|
NM_004006.3(DMD):c.6305C>T (p.Ser2102Phe)
|
|
|
NM_004006.3(DMD):c.631A>C (p.Lys211Gln)
|
|
|
NM_004006.3(DMD):c.6332A>G (p.Tyr2111Cys)
|
|
|
NM_004006.3(DMD):c.6345A>G (p.Ile2115Met)
|
|
|
NM_004006.3(DMD):c.6376T>A (p.Phe2126Ile)
|
|
|
NM_004006.3(DMD):c.6427T>C (p.Trp2143Arg)
|
|
|
NM_004006.3(DMD):c.650-5T>C
|
|
|
NM_004006.3(DMD):c.6665A>T (p.Glu2222Val)
|
|
|
NM_004006.3(DMD):c.6748C>T (p.Leu2250Phe)
|
|
|
NM_004006.3(DMD):c.6790C>G (p.Gln2264Glu)
|
|
|
NM_004006.3(DMD):c.6867T>A (p.Asp2289Glu)
|
|
|
NM_004006.3(DMD):c.6912+4A>G
|
|
|
NM_004006.3(DMD):c.6913-3C>A
|
|
|
NM_004006.3(DMD):c.6941G>A (p.Gly2314Glu)
|
|
|
NM_004006.3(DMD):c.6982A>G (p.Lys2328Glu)
|
|
|
NM_004006.3(DMD):c.7168T>C (p.Tyr2390His)
|
|
|
NM_004006.3(DMD):c.717G>C (p.Leu239Phe)
|
|
|
NM_004006.3(DMD):c.7200G>A (p.Lys2400=)
|
|
|
NM_004006.3(DMD):c.7201-4A>G
|
rs1556917126
|
|
NM_004006.3(DMD):c.7237G>A (p.Val2413Ile)
|
rs373604575
|
|
NM_004006.3(DMD):c.7450G>C (p.Asp2484His)
|
rs773102625
|
|
NM_004006.3(DMD):c.7517_7519dup (p.Ile2506_Asn2507insIle)
|
|
|
NM_004006.3(DMD):c.7766A>C (p.Lys2589Thr)
|
rs1603445313
|
|
NM_004006.3(DMD):c.7816T>G (p.Trp2606Gly)
|
|
|
NM_004006.3(DMD):c.7843G>A (p.Ala2615Thr)
|
|
|
NM_004006.3(DMD):c.7879G>T (p.Ala2627Ser)
|
|
|
NM_004006.3(DMD):c.7887C>G (p.Asp2629Glu)
|
|
|
NM_004006.3(DMD):c.7891C>T (p.Arg2631Cys)
|
|
|
NM_004006.3(DMD):c.7931C>T (p.Ala2644Val)
|
|
|
NM_004006.3(DMD):c.8033G>C (p.Ser2678Thr)
|
rs942124280
|
|
NM_004006.3(DMD):c.805C>T (p.His269Tyr)
|
|
|
NM_004006.3(DMD):c.8060C>T (p.Thr2687Ile)
|
|
|
NM_004006.3(DMD):c.8150A>T (p.Asp2717Val)
|
rs886043271
|
|
NM_004006.3(DMD):c.818A>G (p.His273Arg)
|
|
|
NM_004006.3(DMD):c.8237A>G (p.Glu2746Gly)
|
|
|
NM_004006.3(DMD):c.8249A>T (p.Asp2750Val)
|
|
|
NM_004006.3(DMD):c.8308G>C (p.Asp2770His)
|
|
|
NM_004006.3(DMD):c.832A>G (p.Ile278Val)
|
|
|
NM_004006.3(DMD):c.8350T>C (p.Phe2784Leu)
|
|
|
NM_004006.3(DMD):c.8435T>C (p.Leu2812Pro)
|
|
|
NM_004006.3(DMD):c.8470A>G (p.Lys2824Glu)
|
|
|
NM_004006.3(DMD):c.8489G>A (p.Arg2830Gln)
|
|
|
NM_004006.3(DMD):c.8506G>A (p.Gly2836Ser)
|
|
|
NM_004006.3(DMD):c.8560_8561delinsAC (p.Glu2854Thr)
|
rs2149257504
|
|
NM_004006.3(DMD):c.856T>C (p.Tyr286His)
|
|
|
NM_004006.3(DMD):c.8651T>C (p.Leu2884Pro)
|
|
|
NM_004006.3(DMD):c.8656C>G (p.Gln2886Glu)
|
|
|
NM_004006.3(DMD):c.8662C>G (p.Pro2888Ala)
|
|
|
NM_004006.3(DMD):c.8775G>C (p.Trp2925Cys)
|
|
|
NM_004006.3(DMD):c.881C>T (p.Pro294Leu)
|
rs2063777083
|
|
NM_004006.3(DMD):c.8824G>C (p.Ala2942Pro)
|
rs755127162
|
|
NM_004006.3(DMD):c.884G>T (p.Arg295Leu)
|
|
|
NM_004006.3(DMD):c.8866A>C (p.Ile2956Leu)
|
rs1032522152
|
|
NM_004006.3(DMD):c.8884C>A (p.Pro2962Thr)
|
|
|
NM_004006.3(DMD):c.8941C>A (p.Leu2981Ile)
|
rs2149076096
|
|
NM_004006.3(DMD):c.8998C>T (p.Arg3000Cys)
|
|
|
NM_004006.3(DMD):c.9025C>A (p.Leu3009Ile)
|
rs2149075446
|
|
NM_004006.3(DMD):c.9101G>A (p.Arg3034Gln)
|
|
|
NM_004006.3(DMD):c.9122C>A (p.Ala3041Asp)
|
|
|
NM_004006.3(DMD):c.926C>A (p.Thr309Asn)
|
|
|
NM_004006.3(DMD):c.9338G>A (p.Arg3113Gln)
|
rs1556320083
|
|
NM_004006.3(DMD):c.9352G>A (p.Ala3118Thr)
|
rs200928985
|
|
NM_004006.3(DMD):c.9352G>T (p.Ala3118Ser)
|
rs200928985
|
|
NM_004006.3(DMD):c.9362-3C>T
|
rs752816247
|
|
NM_004006.3(DMD):c.940C>G (p.Arg314Gly)
|
rs764526102
|
|
NM_004006.3(DMD):c.941G>T (p.Arg314Leu)
|
rs751164104
|
|
NM_004006.3(DMD):c.9497A>G (p.Asn3166Ser)
|
|
|
NM_004006.3(DMD):c.9499A>G (p.Asn3167Asp)
|
rs781509861
|
|
NM_004006.3(DMD):c.9511G>A (p.Val3171Ile)
|
|
|
NM_004006.3(DMD):c.9515C>A (p.Pro3172His)
|
|
|
NM_004006.3(DMD):c.9553G>A (p.Val3185Ile)
|
rs1556280685
|
|
NM_004006.3(DMD):c.976G>C (p.Glu326Gln)
|
|
|
NM_004006.3(DMD):c.9781C>G (p.Pro3261Ala)
|
|
|
NM_004006.3(DMD):c.9818A>C (p.Lys3273Thr)
|
|
|
NM_004006.3(DMD):c.990T>G (p.Phe330Leu)
|
|
|
NM_004100.5(EYA4):c.1001C>T (p.Thr334Ile)
|
|
|
NM_004100.5(EYA4):c.1010A>G (p.Lys337Arg)
|
rs755172395
|
|
NM_004100.5(EYA4):c.1039T>A (p.Ser347Thr)
|
|
|
NM_004100.5(EYA4):c.103C>G (p.Leu35Val)
|
rs35562371
|
|
NM_004100.5(EYA4):c.1042G>C (p.Gly348Arg)
|
rs1279116848
|
|
NM_004100.5(EYA4):c.1087C>A (p.Pro363Thr)
|
rs766386665
|
|
NM_004100.5(EYA4):c.1090C>T (p.Pro364Ser)
|
|
|
NM_004100.5(EYA4):c.1144G>C (p.Val382Leu)
|
|
|
NM_004100.5(EYA4):c.1191+5_1191+8delinsTG
|
|
|
NM_004100.5(EYA4):c.1196C>T (p.Pro399Leu)
|
|
|
NM_004100.5(EYA4):c.119C>T (p.Thr40Ile)
|
|
|
NM_004100.5(EYA4):c.1204G>T (p.Ala402Ser)
|
|
|
NM_004100.5(EYA4):c.1276T>A (p.Leu426Ile)
|
|
|
NM_004100.5(EYA4):c.1300A>G (p.Ile434Val)
|
|
|
NM_004100.5(EYA4):c.1301T>C (p.Ile434Thr)
|
rs766340934
|
|
NM_004100.5(EYA4):c.131G>A (p.Gly44Asp)
|
rs886039161
|
|
NM_004100.5(EYA4):c.1340G>T (p.Ser447Ile)
|
|
|
NM_004100.5(EYA4):c.137A>G (p.Asp46Gly)
|
rs1439822731
|
|
NM_004100.5(EYA4):c.1405A>G (p.Thr469Ala)
|
|
|
NM_004100.5(EYA4):c.1411G>A (p.Val471Ile)
|
|
|
NM_004100.5(EYA4):c.1434G>A (p.Met478Ile)
|
rs1187396214
|
|
NM_004100.5(EYA4):c.1471T>G (p.Leu491Val)
|
|
|
NM_004100.5(EYA4):c.1496T>G (p.Val499Gly)
|
|
|
NM_004100.5(EYA4):c.1523G>A (p.Arg508Lys)
|
rs543789215
|
|
NM_004100.5(EYA4):c.152C>T (p.Ser51Phe)
|
rs542906126
|
|
NM_004100.5(EYA4):c.1546G>A (p.Ala516Thr)
|
|
|
NM_004100.5(EYA4):c.1549G>A (p.Glu517Lys)
|
|
|
NM_004100.5(EYA4):c.155A>C (p.Lys52Thr)
|
rs763983145
|
|
NM_004100.5(EYA4):c.161A>T (p.Glu54Val)
|
|
|
NM_004100.5(EYA4):c.1760G>A (p.Arg587Gln)
|
|
|
NM_004100.5(EYA4):c.1783A>C (p.Lys595Gln)
|
rs1344051266
|
|
NM_004100.5(EYA4):c.1786G>A (p.Val596Ile)
|
|
|
NM_004100.5(EYA4):c.179G>T (p.Ser60Ile)
|
rs886038799
|
|
NM_004100.5(EYA4):c.1816GAA[2] (p.Glu608del)
|
rs763110500
|
|
NM_004100.5(EYA4):c.202A>G (p.Thr68Ala)
|
|
|
NM_004100.5(EYA4):c.238G>A (p.Asp80Asn)
|
|
|
NM_004100.5(EYA4):c.251G>A (p.Ser84Asn)
|
rs1215782368
|
|
NM_004100.5(EYA4):c.304C>T (p.Pro102Ser)
|
|
|
NM_004100.5(EYA4):c.308T>C (p.Leu103Ser)
|
|
|
NM_004100.5(EYA4):c.33+5G>A
|
|
|
NM_004100.5(EYA4):c.365G>C (p.Gly122Ala)
|
|
|
NM_004100.5(EYA4):c.371-3C>T
|
|
|
NM_004100.5(EYA4):c.377C>G (p.Thr126Arg)
|
|
|
NM_004100.5(EYA4):c.37A>G (p.Lys13Glu)
|
|
|
NM_004100.5(EYA4):c.439C>T (p.Pro147Ser)
|
|
|
NM_004100.5(EYA4):c.43A>G (p.Thr15Ala)
|
rs1359824142
|
|
NM_004100.5(EYA4):c.458C>G (p.Ser153Cys)
|
rs1554261941
|
|
NM_004100.5(EYA4):c.494G>A (p.Gly165Asp)
|
rs1794475262
|
|
NM_004100.5(EYA4):c.511G>C (p.Gly171Arg)
|
|
|
NM_004100.5(EYA4):c.590T>C (p.Val197Ala)
|
rs1794499562
|
|
NM_004100.5(EYA4):c.625T>C (p.Ser209Pro)
|
|
|
NM_004100.5(EYA4):c.700A>G (p.Thr234Ala)
|
|
|
NM_004100.5(EYA4):c.712T>C (p.Tyr238His)
|
|
|
NM_004100.5(EYA4):c.722C>T (p.Pro241Leu)
|
|
|
NM_004100.5(EYA4):c.749C>G (p.Thr250Ser)
|
|
|
NM_004100.5(EYA4):c.757G>A (p.Ala253Thr)
|
|
|
NM_004100.5(EYA4):c.781A>G (p.Thr261Ala)
|
|
|
NM_004100.5(EYA4):c.782C>T (p.Thr261Met)
|
rs959547878
|
|
NM_004100.5(EYA4):c.793G>A (p.Gly265Ser)
|
|
|
NM_004100.5(EYA4):c.803A>G (p.Gln268Arg)
|
|
|
NM_004100.5(EYA4):c.809A>G (p.Tyr270Cys)
|
rs1048564742
|
|
NM_004100.5(EYA4):c.818A>G (p.Tyr273Cys)
|
|
|
NM_004100.5(EYA4):c.830G>A (p.Gly277Asp)
|
|
|
NM_004100.5(EYA4):c.84G>T (p.Arg28Ser)
|
|
|
NM_004100.5(EYA4):c.856T>G (p.Ser286Ala)
|
|
|
NM_004100.5(EYA4):c.874G>A (p.Ala292Thr)
|
rs1195889018
|
|
NM_004100.5(EYA4):c.899C>A (p.Ala300Asp)
|
rs757252384
|
|
NM_004100.5(EYA4):c.923C>T (p.Ser308Phe)
|
|
|
NM_004100.5(EYA4):c.959C>T (p.Thr320Ile)
|
|
|
NM_004100.5(EYA4):c.961A>C (p.Asn321His)
|
rs202049252
|
|
NM_004100.5(EYA4):c.978C>G (p.Phe326Leu)
|
rs773095472
|
|
NM_004100.5(EYA4):c.98A>C (p.Gln33Pro)
|
|
|
NM_004100.5(EYA4):c.991A>C (p.Ser331Arg)
|
|
|
NM_004281.4(BAG3):c.1028G>A (p.Arg343His)
|
rs774085746
|
|
NM_004281.4(BAG3):c.1055C>G (p.Ser352Cys)
|
rs1564776574
|
|
NM_004281.4(BAG3):c.1063C>T (p.Pro355Ser)
|
rs761188869
|
|
NM_004281.4(BAG3):c.1070C>T (p.Pro357Leu)
|
|
|
NM_004281.4(BAG3):c.1088A>C (p.Glu363Ala)
|
rs1345725468
|
|
NM_004281.4(BAG3):c.1121C>G (p.Pro374Arg)
|
|
|
NM_004281.4(BAG3):c.1157C>T (p.Ser386Phe)
|
|
|
NM_004281.4(BAG3):c.116T>C (p.Phe39Ser)
|
rs1472915271
|
|
NM_004281.4(BAG3):c.1179A>C (p.Glu393Asp)
|
|
|
NM_004281.4(BAG3):c.1198A>T (p.Thr400Ser)
|
|
|
NM_004281.4(BAG3):c.1232_1234del (p.Gly411del)
|
rs761727804
|
|
NM_004281.4(BAG3):c.1243G>T (p.Ala415Ser)
|
rs1248733449
|
|
NM_004281.4(BAG3):c.1255C>T (p.His419Tyr)
|
|
|
NM_004281.4(BAG3):c.1259C>A (p.Pro420Gln)
|
|
|
NM_004281.4(BAG3):c.1259C>T (p.Pro420Leu)
|
rs1303615373
|
|
NM_004281.4(BAG3):c.1262G>A (p.Gly421Glu)
|
rs886039025
|
|
NM_004281.4(BAG3):c.1293G>C (p.Lys431Asn)
|
|
|
NM_004281.4(BAG3):c.1296_1298delinsGCG (p.Gln433Arg)
|
|
|
NM_004281.4(BAG3):c.1307A>G (p.Glu436Gly)
|
rs1847245034
|
|
NM_004281.4(BAG3):c.1318G>A (p.Asp440Asn)
|
rs878854652
|
|
NM_004281.4(BAG3):c.1366G>A (p.Glu456Lys)
|
|
|
NM_004281.4(BAG3):c.1397A>T (p.Asp466Val)
|
|
|
NM_004281.4(BAG3):c.1402G>A (p.Val468Met)
|
|
|
NM_004281.4(BAG3):c.1425T>A (p.Asp475Glu)
|
|
|
NM_004281.4(BAG3):c.1450G>A (p.Val484Ile)
|
|
|
NM_004281.4(BAG3):c.14C>T (p.Thr5Ile)
|
|
|
NM_004281.4(BAG3):c.1543C>T (p.Leu515Phe)
|
|
|
NM_004281.4(BAG3):c.1546G>A (p.Glu516Lys)
|
|
|
NM_004281.4(BAG3):c.154C>G (p.Pro52Ala)
|
|
|
NM_004281.4(BAG3):c.1554T>A (p.Asp518Glu)
|
rs139125612
|
|
NM_004281.4(BAG3):c.1559C>T (p.Pro520Leu)
|
|
|
NM_004281.4(BAG3):c.155C>G (p.Pro52Arg)
|
rs1846845477
|
|
NM_004281.4(BAG3):c.1565A>T (p.Gln522Leu)
|
|
|
NM_004281.4(BAG3):c.1570A>T (p.Ile524Phe)
|
rs764925485
|
|
NM_004281.4(BAG3):c.1574T>C (p.Met525Thr)
|
rs2134069468
|
|
NM_004281.4(BAG3):c.1600A>G (p.Lys534Glu)
|
|
|
NM_004281.4(BAG3):c.1629A>T (p.Glu543Asp)
|
|
|
NM_004281.4(BAG3):c.1630G>A (p.Asp544Asn)
|
rs786205466
|
|
NM_004281.4(BAG3):c.1687A>G (p.Ser563Gly)
|
|
|
NM_004281.4(BAG3):c.1709G>A (p.Gly570Asp)
|
|
|
NM_004281.4(BAG3):c.1718C>T (p.Ala573Val)
|
|
|
NM_004281.4(BAG3):c.180+5G>A
|
|
|
NM_004281.4(BAG3):c.19T>C (p.Ser7Pro)
|
|
|
NM_004281.4(BAG3):c.200A>G (p.Asn67Ser)
|
rs572036022
|
|
NM_004281.4(BAG3):c.212G>T (p.Arg71Leu)
|
rs35434411
|
|
NM_004281.4(BAG3):c.280A>G (p.Ile94Val)
|
|
|
NM_004281.4(BAG3):c.302A>G (p.Glu101Gly)
|
|
|
NM_004281.4(BAG3):c.321G>C (p.Gln107His)
|
|
|
NM_004281.4(BAG3):c.326A>G (p.His109Arg)
|
|
|
NM_004281.4(BAG3):c.329C>T (p.Pro110Leu)
|
rs749587347
|
|
NM_004281.4(BAG3):c.388G>T (p.Ala130Ser)
|
|
|
NM_004281.4(BAG3):c.391C>G (p.Pro131Ala)
|
rs140672627
|
|
NM_004281.4(BAG3):c.41C>T (p.Ser14Phe)
|
rs2134050488
|
|
NM_004281.4(BAG3):c.440C>T (p.Pro147Leu)
|
|
|
NM_004281.4(BAG3):c.467C>G (p.Ala156Gly)
|
rs572038196
|
|
NM_004281.4(BAG3):c.499G>A (p.Gly167Arg)
|
rs543720798
|
|
NM_004281.4(BAG3):c.507G>C (p.Glu169Asp)
|
rs1060502812
|
|
NM_004281.4(BAG3):c.509G>C (p.Arg170Pro)
|
|
|
NM_004281.4(BAG3):c.521C>T (p.Pro174Leu)
|
|
|
NM_004281.4(BAG3):c.523G>C (p.Ala175Pro)
|
|
|
NM_004281.4(BAG3):c.547T>C (p.Ser183Pro)
|
rs772491154
|
|
NM_004281.4(BAG3):c.577A>G (p.Arg193Gly)
|
|
|
NM_004281.4(BAG3):c.580A>G (p.Ser194Gly)
|
|
|
NM_004281.4(BAG3):c.5G>A (p.Ser2Asn)
|
rs1396002893
|
|
NM_004281.4(BAG3):c.608G>A (p.Arg203Gln)
|
rs1057524225
|
|
NM_004281.4(BAG3):c.608G>C (p.Arg203Pro)
|
rs1057524225
|
|
NM_004281.4(BAG3):c.613T>C (p.Tyr205His)
|
|
|
NM_004281.4(BAG3):c.618C>G (p.Ile206Met)
|
|
|
NM_004281.4(BAG3):c.628G>C (p.Val210Leu)
|
|
|
NM_004281.4(BAG3):c.641_667del (p.Gln214_Gln222del)
|
|
|
NM_004281.4(BAG3):c.667C>A (p.Pro223Thr)
|
|
|
NM_004281.4(BAG3):c.724A>G (p.Thr242Ala)
|
|
|
NM_004281.4(BAG3):c.74G>A (p.Gly25Glu)
|
|
|
NM_004281.4(BAG3):c.782G>A (p.Arg261Gln)
|
rs746454994
|
|
NM_004281.4(BAG3):c.782G>C (p.Arg261Pro)
|
rs746454994
|
|
NM_004281.4(BAG3):c.784G>A (p.Ala262Thr)
|
rs876661343
|
|
NM_004281.4(BAG3):c.880C>T (p.Arg294Cys)
|
rs144585878
|
|
NM_004281.4(BAG3):c.909+5G>A
|
|
|
NM_004281.4(BAG3):c.917T>C (p.Met306Thr)
|
rs554147128
|
|
NM_004281.4(BAG3):c.952G>C (p.Glu318Gln)
|
|
|
NM_004281.4(BAG3):c.95C>G (p.Pro32Arg)
|
|
|
NM_004281.4(BAG3):c.95C>T (p.Pro32Leu)
|
|
|
NM_004281.4(BAG3):c.973C>G (p.Pro325Ala)
|
rs2134068715
|
|
NM_004281.4(BAG3):c.983T>G (p.Val328Gly)
|
|
|
NM_004333.6(BRAF):c.106T>G (p.Ser36Ala)
|
|
|
NM_004333.6(BRAF):c.1129G>A (p.Val377Ile)
|
|
|
NM_004333.6(BRAF):c.1136T>C (p.Ile379Thr)
|
|
|
NM_004333.6(BRAF):c.1162T>C (p.Phe388Leu)
|
|
|
NM_004333.6(BRAF):c.130C>A (p.Pro44Thr)
|
|
|
NM_004333.6(BRAF):c.1744A>G (p.Ile582Val)
|
|
|
NM_004333.6(BRAF):c.1826A>C (p.Gln609Pro)
|
|
|
NM_004333.6(BRAF):c.1982A>G (p.Asn661Ser)
|
|
|
NM_004333.6(BRAF):c.2020C>A (p.Leu674Met)
|
|
|
NM_004333.6(BRAF):c.2231G>C (p.Ser744Thr)
|
|
|
NM_004333.6(BRAF):c.305C>T (p.Ser102Phe)
|
|
|
NM_004333.6(BRAF):c.329C>G (p.Ser110Cys)
|
|
|
NM_004333.6(BRAF):c.389T>G (p.Val130Gly)
|
|
|
NM_004333.6(BRAF):c.59A>C (p.Asn20Thr)
|
|
|
NM_004333.6(BRAF):c.619C>A (p.Pro207Thr)
|
|
|
NM_004333.6(BRAF):c.64G>T (p.Asp22Tyr)
|
|
|
NM_004333.6(BRAF):c.76G>A (p.Glu26Lys)
|
rs397507457
|
|
NM_004333.6(BRAF):c.80C>G (p.Ala27Gly)
|
|
|
NM_004333.6(BRAF):c.91G>A (p.Ala31Thr)
|
|
|
NM_004387.4(NKX2-5):c.-2C>T
|
|
|
NM_004387.4(NKX2-5):c.100T>C (p.Ser34Pro)
|
|
|
NM_004387.4(NKX2-5):c.117_164dup (p.Ala55_Tyr56insThrLeuAlaProSerSerCysMetLeuAlaAlaPheLysProGluAla)
|
|
|
NM_004387.4(NKX2-5):c.133T>C (p.Ser45Pro)
|
|
|
NM_004387.4(NKX2-5):c.14C>G (p.Pro5Arg)
|
|
|
NM_004387.4(NKX2-5):c.169G>C (p.Ala57Pro)
|
|
|
NM_004387.4(NKX2-5):c.178G>C (p.Glu60Gln)
|
rs766199339
|
|
NM_004387.4(NKX2-5):c.199C>G (p.Pro67Ala)
|
|
|
NM_004387.4(NKX2-5):c.199C>T (p.Pro67Ser)
|
|
|
NM_004387.4(NKX2-5):c.248C>G (p.Ala83Gly)
|
rs1182777346
|
|
NM_004387.4(NKX2-5):c.248C>T (p.Ala83Val)
|
|
|
NM_004387.4(NKX2-5):c.259C>T (p.Pro87Ser)
|
|
|
NM_004387.4(NKX2-5):c.286G>A (p.Ala96Thr)
|
|
|
NM_004387.4(NKX2-5):c.293G>C (p.Ser98Thr)
|
|
|
NM_004387.4(NKX2-5):c.298C>A (p.Pro100Thr)
|
rs550046293
|
|
NM_004387.4(NKX2-5):c.317C>G (p.Pro106Arg)
|
|
|
NM_004387.4(NKX2-5):c.334+3G>A
|
|
|
NM_004387.4(NKX2-5):c.342C>G (p.Cys114Trp)
|
rs760723447
|
|
NM_004387.4(NKX2-5):c.350A>C (p.Gln117Pro)
|
|
|
NM_004387.4(NKX2-5):c.351G>C (p.Gln117His)
|
|
|
NM_004387.4(NKX2-5):c.365T>C (p.Leu122Pro)
|
|
|
NM_004387.4(NKX2-5):c.380C>G (p.Ala127Gly)
|
|
|
NM_004387.4(NKX2-5):c.382G>A (p.Asp128Asn)
|
|
|
NM_004387.4(NKX2-5):c.404C>G (p.Ala135Gly)
|
|
|
NM_004387.4(NKX2-5):c.416G>A (p.Arg139Lys)
|
|
|
NM_004387.4(NKX2-5):c.421C>A (p.Pro141Thr)
|
|
|
NM_004387.4(NKX2-5):c.435C>G (p.Phe145Leu)
|
|
|
NM_004387.4(NKX2-5):c.436T>A (p.Ser146Thr)
|
|
|
NM_004387.4(NKX2-5):c.464G>A (p.Arg155Gln)
|
|
|
NM_004387.4(NKX2-5):c.480G>T (p.Gln160His)
|
|
|
NM_004387.4(NKX2-5):c.485A>G (p.Tyr162Cys)
|
|
|
NM_004387.4(NKX2-5):c.520G>A (p.Val174Met)
|
|
|
NM_004387.4(NKX2-5):c.520G>T (p.Val174Leu)
|
|
|
NM_004387.4(NKX2-5):c.549G>C (p.Lys183Asn)
|
|
|
NM_004387.4(NKX2-5):c.554G>C (p.Trp185Ser)
|
|
|
NM_004387.4(NKX2-5):c.590G>C (p.Arg197Pro)
|
rs774482632
|
|
NM_004387.4(NKX2-5):c.59T>C (p.Leu20Pro)
|
rs1471444031
|
|
NM_004387.4(NKX2-5):c.608A>G (p.Glu203Gly)
|
rs771533553
|
|
NM_004387.4(NKX2-5):c.617G>A (p.Gly206Glu)
|
|
|
NM_004387.4(NKX2-5):c.635C>T (p.Pro212Leu)
|
rs372282873
|
|
NM_004387.4(NKX2-5):c.65A>C (p.Gln22Pro)
|
rs201442000
|
|
NM_004387.4(NKX2-5):c.664G>C (p.Val222Leu)
|
|
|
NM_004387.4(NKX2-5):c.685C>G (p.Pro229Ala)
|
rs2113901265
|
|
NM_004387.4(NKX2-5):c.697G>C (p.Asp233His)
|
|
|
NM_004387.4(NKX2-5):c.701C>T (p.Ser234Leu)
|
|
|
NM_004387.4(NKX2-5):c.709T>C (p.Tyr237His)
|
rs1761349696
|
|
NM_004387.4(NKX2-5):c.724G>A (p.Gly242Ser)
|
rs867226708
|
|
NM_004387.4(NKX2-5):c.739C>A (p.Pro247Thr)
|
|
|
NM_004387.4(NKX2-5):c.770C>T (p.Pro257Leu)
|
|
|
NM_004387.4(NKX2-5):c.784G>T (p.Ala262Ser)
|
|
|
NM_004387.4(NKX2-5):c.787G>C (p.Ala263Pro)
|
|
|
NM_004387.4(NKX2-5):c.799G>C (p.Gly267Arg)
|
|
|
NM_004387.4(NKX2-5):c.806G>A (p.Ser269Asn)
|
|
|
NM_004387.4(NKX2-5):c.817G>C (p.Ala273Pro)
|
|
|
NM_004387.4(NKX2-5):c.829G>C (p.Gly277Arg)
|
rs772729751
|
|
NM_004387.4(NKX2-5):c.835T>G (p.Ser279Ala)
|
|
|
NM_004387.4(NKX2-5):c.857C>T (p.Ala286Val)
|
|
|
NM_004387.4(NKX2-5):c.85G>A (p.Ala29Thr)
|
rs1554093718
|
|
NM_004387.4(NKX2-5):c.863C>T (p.Ala288Val)
|
|
|
NM_004387.4(NKX2-5):c.865AAC[2] (p.Asn291del)
|
rs756974215
|
|
NM_004387.4(NKX2-5):c.872A>C (p.Asn291Thr)
|
rs1318592912
|
|
NM_004387.4(NKX2-5):c.889G>T (p.Val297Phe)
|
rs569535312
|
|
NM_004387.4(NKX2-5):c.899T>C (p.Leu300Ser)
|
|
|
NM_004387.4(NKX2-5):c.900G>C (p.Leu300Phe)
|
|
|
NM_004387.4(NKX2-5):c.932G>A (p.Ser311Asn)
|
|
|
NM_004387.4(NKX2-5):c.950C>T (p.Thr317Met)
|
rs2113900561
|
|
NM_004387.4(NKX2-5):c.97C>T (p.Leu33Phe)
|
|
|
NM_004415.4(DSP):c.-2_-1delinsGCA
|
|
|
NM_004415.4(DSP):c.1049A>C (p.Tyr350Ser)
|
|
|
NM_004415.4(DSP):c.1061T>C (p.Leu354Pro)
|
|
|
NM_004415.4(DSP):c.1067C>A (p.Thr356Lys)
|
rs780626687
|
|
NM_004415.4(DSP):c.1067C>T (p.Thr356Met)
|
rs780626687
|
|
NM_004415.4(DSP):c.1090A>G (p.Ile364Val)
|
rs886038909
|
|
NM_004415.4(DSP):c.109A>G (p.Thr37Ala)
|
|
|
NM_004415.4(DSP):c.1102A>G (p.Ile368Val)
|
rs794728112
|
|
NM_004415.4(DSP):c.1135T>A (p.Phe379Ile)
|
rs757853478
|
|
NM_004415.4(DSP):c.1180G>A (p.Gly394Arg)
|
rs769054351
|
|
NM_004415.4(DSP):c.1188G>T (p.Gln396His)
|
|
|
NM_004415.4(DSP):c.1201A>G (p.Lys401Glu)
|
|
|
NM_004415.4(DSP):c.1222A>G (p.Asn408Asp)
|
rs142129767
|
|
NM_004415.4(DSP):c.1266+4delinsATA
|
|
|
NM_004415.4(DSP):c.1267-2A>G
|
rs1554106830
|
|
NM_004415.4(DSP):c.1331A>C (p.Lys444Thr)
|
rs1554106843
|
|
NM_004415.4(DSP):c.1335T>G (p.Ile445Met)
|
rs898213877
|
|
NM_004415.4(DSP):c.1351C>A (p.Arg451Ser)
|
|
|
NM_004415.4(DSP):c.137G>C (p.Gly46Ala)
|
|
|
NM_004415.4(DSP):c.1419G>A (p.Gln473=)
|
|
|
NM_004415.4(DSP):c.1435G>C (p.Gly479Arg)
|
rs1288305110
|
|
NM_004415.4(DSP):c.1483_1485delinsTTT (p.Val495Phe)
|
rs1064795582
|
|
NM_004415.4(DSP):c.1492C>G (p.Pro498Ala)
|
rs1581803474
|
|
NM_004415.4(DSP):c.1513G>A (p.Val505Ile)
|
|
|
NM_004415.4(DSP):c.1548C>G (p.Asn516Lys)
|
rs1407207091
|
|
NM_004415.4(DSP):c.1556C>T (p.Ala519Val)
|
rs1395532173
|
|
NM_004415.4(DSP):c.1561G>C (p.Asp521His)
|
|
|
NM_004415.4(DSP):c.1575-5C>T
|
|
|
NM_004415.4(DSP):c.1624A>G (p.Ile542Val)
|
rs2113677376
|
|
NM_004415.4(DSP):c.1672G>C (p.Glu558Gln)
|
|
|
NM_004415.4(DSP):c.1679T>C (p.Ile560Thr)
|
|
|
NM_004415.4(DSP):c.170+2T>C
|
|
|
NM_004415.4(DSP):c.1736C>T (p.Thr579Met)
|
|
|
NM_004415.4(DSP):c.1775G>T (p.Arg592Ile)
|
rs1759048949
|
|
NM_004415.4(DSP):c.178G>A (p.Gly60Ser)
|
rs982933033
|
|
NM_004415.4(DSP):c.1816C>G (p.Arg606Gly)
|
|
|
NM_004415.4(DSP):c.1819A>G (p.Lys607Glu)
|
|
|
NM_004415.4(DSP):c.1859A>G (p.Gln620Arg)
|
|
|
NM_004415.4(DSP):c.1865T>G (p.Leu622Arg)
|
rs1554107098
|
|
NM_004415.4(DSP):c.1867G>A (p.Val623Ile)
|
|
|
NM_004415.4(DSP):c.1895A>C (p.His632Pro)
|
|
|
NM_004415.4(DSP):c.1903+3C>T
|
rs754326012
|
|
NM_004415.4(DSP):c.1907C>A (p.Thr636Asn)
|
|
|
NM_004415.4(DSP):c.1928A>G (p.His643Arg)
|
rs1759064128
|
|
NM_004415.4(DSP):c.1954A>T (p.Asn652Tyr)
|
|
|
NM_004415.4(DSP):c.1963A>G (p.Ile655Val)
|
|
|
NM_004415.4(DSP):c.1993G>A (p.Glu665Lys)
|
rs2113679925
|
|
NM_004415.4(DSP):c.1997C>T (p.Thr666Ile)
|
rs200053977
|
|
NM_004415.4(DSP):c.1A>G (p.Met1Val)
|
rs1131691557
|
|
NM_004415.4(DSP):c.2012A>G (p.Glu671Gly)
|
rs758530970
|
|
NM_004415.4(DSP):c.2043C>A (p.His681Gln)
|
|
|
NM_004415.4(DSP):c.2074C>G (p.Pro692Ala)
|
|
|
NM_004415.4(DSP):c.2119A>G (p.Asn707Asp)
|
rs756272327
|
|
NM_004415.4(DSP):c.2159C>G (p.Ala720Gly)
|
rs1261146655
|
|
NM_004415.4(DSP):c.2164G>T (p.Val722Phe)
|
rs1581808686
|
|
NM_004415.4(DSP):c.2168T>C (p.Leu723Pro)
|
rs1554107443
|
|
NM_004415.4(DSP):c.2171A>C (p.Asn724Thr)
|
|
|
NM_004415.4(DSP):c.2201G>A (p.Arg734Lys)
|
rs1561692443
|
|
NM_004415.4(DSP):c.2203G>A (p.Gly735Ser)
|
|
|
NM_004415.4(DSP):c.2204G>T (p.Gly735Val)
|
rs1759154089
|
|
NM_004415.4(DSP):c.2234A>C (p.Glu745Ala)
|
rs969462343
|
|
NM_004415.4(DSP):c.2279C>T (p.Thr760Ile)
|
|
|
NM_004415.4(DSP):c.2313G>T (p.Arg771Ser)
|
|
|
NM_004415.4(DSP):c.2326G>A (p.Ala776Thr)
|
rs1759178969
|
|
NM_004415.4(DSP):c.2344G>T (p.Asp782Tyr)
|
rs2113684062
|
|
NM_004415.4(DSP):c.2369G>A (p.Arg790Lys)
|
|
|
NM_004415.4(DSP):c.2470TTG[1] (p.Leu825del)
|
|
|
NM_004415.4(DSP):c.2531A>G (p.Gln844Arg)
|
|
|
NM_004415.4(DSP):c.2552T>C (p.Leu851Pro)
|
|
|
NM_004415.4(DSP):c.2575A>G (p.Lys859Glu)
|
rs1759209975
|
|
NM_004415.4(DSP):c.2608A>T (p.Ile870Leu)
|
rs1561693971
|
|
NM_004415.4(DSP):c.262A>G (p.Ile88Val)
|
rs1581791030
|
|
NM_004415.4(DSP):c.262A>T (p.Ile88Phe)
|
|
|
NM_004415.4(DSP):c.2703G>T (p.Trp901Cys)
|
rs1057519251
|
|
NM_004415.4(DSP):c.2704C>T (p.Leu902Phe)
|
rs1443682154
|
|
NM_004415.4(DSP):c.2723G>T (p.Arg908Leu)
|
rs142494121
|
|
NM_004415.4(DSP):c.2747A>C (p.Lys916Thr)
|
rs1554107730
|
|
NM_004415.4(DSP):c.274G>A (p.Glu92Lys)
|
|
|
NM_004415.4(DSP):c.2765C>T (p.Thr922Ile)
|
rs755099716
|
|
NM_004415.4(DSP):c.279G>C (p.Leu93Phe)
|
rs1447901875
|
|
NM_004415.4(DSP):c.2829A>C (p.Lys943Asn)
|
|
|
NM_004415.4(DSP):c.2842C>G (p.Gln948Glu)
|
|
|
NM_004415.4(DSP):c.2876A>C (p.Lys959Thr)
|
|
|
NM_004415.4(DSP):c.2878-3C>T
|
rs1581813359
|
|
NM_004415.4(DSP):c.2896G>C (p.Ala966Pro)
|
|
|
NM_004415.4(DSP):c.2897C>T (p.Ala966Val)
|
|
|
NM_004415.4(DSP):c.2917G>C (p.Glu973Gln)
|
|
|
NM_004415.4(DSP):c.2932A>G (p.Ile978Val)
|
rs780823789
|
|
NM_004415.4(DSP):c.2936C>G (p.Pro979Arg)
|
rs1759288530
|
|
NM_004415.4(DSP):c.293G>C (p.Gly98Ala)
|
|
|
NM_004415.4(DSP):c.2950A>G (p.Met984Val)
|
rs868110541
|
|
NM_004415.4(DSP):c.2951T>A (p.Met984Lys)
|
rs1452300736
|
|
NM_004415.4(DSP):c.2957A>C (p.Gln986Pro)
|
|
|
NM_004415.4(DSP):c.2958G>T (p.Gln986His)
|
rs786205415
|
|
NM_004415.4(DSP):c.3005G>A (p.Arg1002Gln)
|
rs371234425
|
|
NM_004415.4(DSP):c.3023C>T (p.Thr1008Ile)
|
rs1334187363
|
|
NM_004415.4(DSP):c.3027A>T (p.Arg1009Ser)
|
|
|
NM_004415.4(DSP):c.302T>G (p.Leu101Arg)
|
|
|
NM_004415.4(DSP):c.3070T>G (p.Leu1024Val)
|
rs1474315262
|
|
NM_004415.4(DSP):c.3071T>G (p.Leu1024Trp)
|
|
|
NM_004415.4(DSP):c.307C>T (p.Arg103Trp)
|
rs375028675
|
|
NM_004415.4(DSP):c.3119A>G (p.Glu1040Gly)
|
rs727505147
|
|
NM_004415.4(DSP):c.3167A>G (p.Lys1056Arg)
|
|
|
NM_004415.4(DSP):c.3172C>G (p.Leu1058Val)
|
|
|
NM_004415.4(DSP):c.3259G>A (p.Glu1087Lys)
|
rs1561697118
|
|
NM_004415.4(DSP):c.3304G>C (p.Gly1102Arg)
|
|
|
NM_004415.4(DSP):c.3311T>C (p.Ile1104Thr)
|
|
|
NM_004415.4(DSP):c.3329A>C (p.Lys1110Thr)
|
|
|
NM_004415.4(DSP):c.3344C>T (p.Thr1115Ile)
|
rs1393151720
|
|
NM_004415.4(DSP):c.3346T>C (p.Tyr1116His)
|
rs1581815394
|
|
NM_004415.4(DSP):c.3373A>G (p.Arg1125Gly)
|
|
|
NM_004415.4(DSP):c.3439C>A (p.Gln1147Lys)
|
|
|
NM_004415.4(DSP):c.343A>C (p.Asn115His)
|
|
|
NM_004415.4(DSP):c.3490A>C (p.Ile1164Leu)
|
|
|
NM_004415.4(DSP):c.3499_3501del (p.Lys1167del)
|
rs1554108091
|
|
NM_004415.4(DSP):c.3513T>G (p.Ile1171Met)
|
|
|
NM_004415.4(DSP):c.3548C>T (p.Thr1183Ile)
|
|
|
NM_004415.4(DSP):c.35A>G (p.Asn12Ser)
|
rs1239489755
|
|
NM_004415.4(DSP):c.3607A>T (p.Met1203Leu)
|
|
|
NM_004415.4(DSP):c.3609_3610delinsAG (p.Met1203_Ser1204delinsIleGly)
|
rs1759361326
|
|
NM_004415.4(DSP):c.3610A>G (p.Ser1204Gly)
|
|
|
NM_004415.4(DSP):c.3743A>C (p.Asp1248Ala)
|
rs1276847644
|
|
NM_004415.4(DSP):c.375C>G (p.Ile125Met)
|
|
|
NM_004415.4(DSP):c.3764G>A (p.Arg1255Lys)
|
rs777407386
|
|
NM_004415.4(DSP):c.3796C>G (p.Gln1266Glu)
|
|
|
NM_004415.4(DSP):c.3799C>G (p.Arg1267Gly)
|
|
|
NM_004415.4(DSP):c.3806G>A (p.Arg1269Gln)
|
rs876657795
|
|
NM_004415.4(DSP):c.3835G>T (p.Ala1279Ser)
|
rs763915365
|
|
NM_004415.4(DSP):c.3845C>T (p.Ser1282Phe)
|
rs778780656
|
|
NM_004415.4(DSP):c.3864G>T (p.Lys1288Asn)
|
rs768166626
|
|
NM_004415.4(DSP):c.3919G>T (p.Ala1307Ser)
|
|
|
NM_004415.4(DSP):c.3941A>G (p.Glu1314Gly)
|
|
|
NM_004415.4(DSP):c.3947C>G (p.Ala1316Gly)
|
|
|
NM_004415.4(DSP):c.3956C>T (p.Thr1319Ile)
|
rs138599871
|
|
NM_004415.4(DSP):c.397C>G (p.Gln133Glu)
|
|
|
NM_004415.4(DSP):c.3982G>A (p.Glu1328Lys)
|
rs746208168
|
|
NM_004415.4(DSP):c.4016A>T (p.Lys1339Met)
|
|
|
NM_004415.4(DSP):c.4018C>G (p.Arg1340Gly)
|
rs768628788
|
|
NM_004415.4(DSP):c.4018C>T (p.Arg1340Cys)
|
rs768628788
|
|
NM_004415.4(DSP):c.4028A>C (p.Glu1343Ala)
|
|
|
NM_004415.4(DSP):c.4093C>A (p.Gln1365Lys)
|
|
|
NM_004415.4(DSP):c.4098T>G (p.Phe1366Leu)
|
|
|
NM_004415.4(DSP):c.4109T>A (p.Ile1370Asn)
|
rs1759384359
|
|
NM_004415.4(DSP):c.4130T>A (p.Ile1377Asn)
|
rs1215591946
|
|
NM_004415.4(DSP):c.4172A>C (p.Tyr1391Ser)
|
rs727504547
|
|
NM_004415.4(DSP):c.418A>G (p.Lys140Glu)
|
|
|
NM_004415.4(DSP):c.4196C>T (p.Thr1399Ile)
|
|
|
NM_004415.4(DSP):c.4199G>T (p.Arg1400Leu)
|
|
|
NM_004415.4(DSP):c.4202A>T (p.Glu1401Val)
|
rs1759389046
|
|
NM_004415.4(DSP):c.4244C>T (p.Thr1415Ile)
|
|
|
NM_004415.4(DSP):c.4261G>A (p.Glu1421Lys)
|
rs769965019
|
|
NM_004415.4(DSP):c.4332A>C (p.Lys1444Asn)
|
rs1374798133
|
|
NM_004415.4(DSP):c.4352T>C (p.Leu1451Pro)
|
rs1554108296
|
|
NM_004415.4(DSP):c.4379A>G (p.Glu1460Gly)
|
rs1759396646
|
|
NM_004415.4(DSP):c.4385_4386delinsTT (p.Ser1462Ile)
|
rs730880090
|
|
NM_004415.4(DSP):c.43G>A (p.Gly15Ser)
|
|
|
NM_004415.4(DSP):c.4421A>G (p.Lys1474Arg)
|
rs756456881
|
|
NM_004415.4(DSP):c.4472A>G (p.Asp1491Gly)
|
rs397516938
|
|
NM_004415.4(DSP):c.4487A>T (p.Asp1496Val)
|
|
|
NM_004415.4(DSP):c.4514C>G (p.Ala1505Gly)
|
|
|
NM_004415.4(DSP):c.4527_4559del (p.Arg1509_Ser1519del)
|
rs397516939
|
|
NM_004415.4(DSP):c.4558A>T (p.Ser1520Cys)
|
rs780953141
|
|
NM_004415.4(DSP):c.4571C>T (p.Thr1524Ile)
|
rs397516941
|
|
NM_004415.4(DSP):c.4609C>A (p.Arg1537Ser)
|
|
|
NM_004415.4(DSP):c.4632G>T (p.Arg1544Ser)
|
|
|
NM_004415.4(DSP):c.463G>A (p.Ala155Thr)
|
|
|
NM_004415.4(DSP):c.4648A>T (p.Thr1550Ser)
|
|
|
NM_004415.4(DSP):c.4672C>T (p.Arg1558Trp)
|
|
|
NM_004415.4(DSP):c.4679A>G (p.Gln1560Arg)
|
rs796530013
|
|
NM_004415.4(DSP):c.46C>T (p.Arg16Cys)
|
|
|
NM_004415.4(DSP):c.4713G>C (p.Gln1571His)
|
rs375381133
|
|
NM_004415.4(DSP):c.4717G>A (p.Val1573Met)
|
rs370171270
|
|
NM_004415.4(DSP):c.4723G>A (p.Glu1575Lys)
|
rs727503002
|
|
NM_004415.4(DSP):c.4769A>G (p.Lys1590Arg)
|
rs2113694864
|
|
NM_004415.4(DSP):c.4780C>G (p.Leu1594Val)
|
rs149463707
|
|
NM_004415.4(DSP):c.47G>C (p.Arg16Pro)
|
rs752387234
|
|
NM_004415.4(DSP):c.4837A>T (p.Thr1613Ser)
|
|
|
NM_004415.4(DSP):c.484C>G (p.Arg162Gly)
|
rs760711308
|
|
NM_004415.4(DSP):c.485G>A (p.Arg162His)
|
rs397516944
|
|
NM_004415.4(DSP):c.4865C>T (p.Ala1622Val)
|
|
|
NM_004415.4(DSP):c.4868C>G (p.Ser1623Cys)
|
rs908086952
|
|
NM_004415.4(DSP):c.4870A>G (p.Ile1624Val)
|
|
|
NM_004415.4(DSP):c.4894G>A (p.Asp1632Asn)
|
rs747279731
|
|
NM_004415.4(DSP):c.4908G>C (p.Gln1636His)
|
|
|
NM_004415.4(DSP):c.4957G>A (p.Glu1653Lys)
|
|
|
NM_004415.4(DSP):c.4994G>C (p.Arg1665Thr)
|
rs1290867734
|
|
NM_004415.4(DSP):c.49A>G (p.Met17Val)
|
|
|
NM_004415.4(DSP):c.5020A>G (p.Ser1674Gly)
|
|
|
NM_004415.4(DSP):c.5057A>T (p.Gln1686Leu)
|
|
|
NM_004415.4(DSP):c.5061G>C (p.Lys1687Asn)
|
rs754404501
|
|
NM_004415.4(DSP):c.5108T>A (p.Ile1703Asn)
|
rs794728123
|
|
NM_004415.4(DSP):c.5115G>C (p.Arg1705Ser)
|
|
|
NM_004415.4(DSP):c.5123C>G (p.Ser1708Cys)
|
rs372452104
|
|
NM_004415.4(DSP):c.5135A>T (p.Asn1712Ile)
|
rs1759433132
|
|
NM_004415.4(DSP):c.5161GAA[2] (p.Glu1723del)
|
rs730880091
|
|
NM_004415.4(DSP):c.517A>C (p.Thr173Pro)
|
|
|
NM_004415.4(DSP):c.5191T>A (p.Tyr1731Asn)
|
|
|
NM_004415.4(DSP):c.5291T>A (p.Leu1764Gln)
|
rs767885673
|
|
NM_004415.4(DSP):c.5310T>G (p.Ile1770Met)
|
|
|
NM_004415.4(DSP):c.5351T>C (p.Ile1784Thr)
|
rs1554108491
|
|
NM_004415.4(DSP):c.540G>C (p.Trp180Cys)
|
|
|
NM_004415.4(DSP):c.5512C>G (p.Arg1838Gly)
|
|
|
NM_004415.4(DSP):c.5527C>G (p.Leu1843Val)
|
|
|
NM_004415.4(DSP):c.5542A>G (p.Arg1848Gly)
|
rs886038805
|
|
NM_004415.4(DSP):c.5587G>A (p.Asp1863Asn)
|
|
|
NM_004415.4(DSP):c.5633T>C (p.Ile1878Thr)
|
rs1581820615
|
|
NM_004415.4(DSP):c.5657A>G (p.Glu1886Gly)
|
rs1759489572
|
|
NM_004415.4(DSP):c.5697C>G (p.Ile1899Met)
|
|
|
NM_004415.4(DSP):c.56G>A (p.Arg19His)
|
rs1757992558
|
|
NM_004415.4(DSP):c.5736G>T (p.Arg1912Ser)
|
rs371873840
|
|
NM_004415.4(DSP):c.5749C>G (p.Leu1917Val)
|
|
|
NM_004415.4(DSP):c.5757T>G (p.Asp1919Glu)
|
rs727504871
|
|
NM_004415.4(DSP):c.5764A>G (p.Arg1922Gly)
|
|
|
NM_004415.4(DSP):c.5785G>A (p.Glu1929Lys)
|
|
|
NM_004415.4(DSP):c.5840A>G (p.Tyr1947Cys)
|
|
|
NM_004415.4(DSP):c.6002T>G (p.Val2001Gly)
|
|
|
NM_004415.4(DSP):c.6041G>A (p.Gly2014Asp)
|
|
|
NM_004415.4(DSP):c.604A>G (p.Met202Val)
|
|
|
NM_004415.4(DSP):c.6055G>T (p.Ala2019Ser)
|
rs771974957
|
|
NM_004415.4(DSP):c.6068C>G (p.Ala2023Gly)
|
|
|
NM_004415.4(DSP):c.6073C>T (p.Pro2025Ser)
|
rs1759514545
|
|
NM_004415.4(DSP):c.612G>C (p.Met204Ile)
|
rs1021314728
|
|
NM_004415.4(DSP):c.6148G>C (p.Glu2050Gln)
|
|
|
NM_004415.4(DSP):c.6187C>T (p.Arg2063Trp)
|
rs374090050
|
|
NM_004415.4(DSP):c.6241G>T (p.Asp2081Tyr)
|
|
|
NM_004415.4(DSP):c.6258A>G (p.Ile2086Met)
|
|
|
NM_004415.4(DSP):c.6271A>G (p.Lys2091Glu)
|
|
|
NM_004415.4(DSP):c.6274G>A (p.Ala2092Thr)
|
|
|
NM_004415.4(DSP):c.6284G>A (p.Gly2095Asp)
|
rs1554108784
|
|
NM_004415.4(DSP):c.6295_6296delinsAT (p.Pro2099Ile)
|
rs587782942
|
|
NM_004415.4(DSP):c.6335A>G (p.Lys2112Arg)
|
|
|
NM_004415.4(DSP):c.6349G>C (p.Asp2117His)
|
|
|
NM_004415.4(DSP):c.6367C>A (p.Arg2123Ser)
|
|
|
NM_004415.4(DSP):c.6386T>G (p.Ile2129Ser)
|
rs1401697610
|
|
NM_004415.4(DSP):c.6401T>C (p.Val2134Ala)
|
|
|
NM_004415.4(DSP):c.6449C>T (p.Ala2150Val)
|
|
|
NM_004415.4(DSP):c.6547T>C (p.Tyr2183His)
|
rs763549172
|
|
NM_004415.4(DSP):c.6580C>T (p.Pro2194Ser)
|
|
|
NM_004415.4(DSP):c.6583C>T (p.His2195Tyr)
|
|
|
NM_004415.4(DSP):c.6584A>G (p.His2195Arg)
|
|
|
NM_004415.4(DSP):c.6586A>G (p.Thr2196Ala)
|
rs2113700741
|
|
NM_004415.4(DSP):c.6705A>T (p.Glu2235Asp)
|
|
|
NM_004415.4(DSP):c.6718C>A (p.Gln2240Lys)
|
rs374262024
|
|
NM_004415.4(DSP):c.6720G>T (p.Gln2240His)
|
|
|
NM_004415.4(DSP):c.6772A>G (p.Ser2258Gly)
|
rs886038842
|
|
NM_004415.4(DSP):c.6778A>G (p.Ile2260Val)
|
|
|
NM_004415.4(DSP):c.67G>A (p.Gly23Ser)
|
rs1757993019
|
|
NM_004415.4(DSP):c.682A>G (p.Ile228Val)
|
rs934038992
|
|
NM_004415.4(DSP):c.685G>A (p.Gly229Ser)
|
rs376185352
|
|
NM_004415.4(DSP):c.686G>A (p.Gly229Asp)
|
|
|
NM_004415.4(DSP):c.6887C>T (p.Ala2296Val)
|
|
|
NM_004415.4(DSP):c.688G>T (p.Asp230Tyr)
|
|
|
NM_004415.4(DSP):c.6917G>C (p.Ser2306Thr)
|
|
|
NM_004415.4(DSP):c.6924G>C (p.Leu2308Phe)
|
|
|
NM_004415.4(DSP):c.695G>T (p.Arg232Leu)
|
|
|
NM_004415.4(DSP):c.6974T>G (p.Phe2325Cys)
|
rs1349503429
|
|
NM_004415.4(DSP):c.7019A>G (p.Asn2340Ser)
|
|
|
NM_004415.4(DSP):c.7021G>A (p.Asp2341Asn)
|
rs200314271
|
|
NM_004415.4(DSP):c.7060A>G (p.Met2354Val)
|
|
|
NM_004415.4(DSP):c.7121_7122delinsTT (p.Thr2374Ile)
|
|
|
NM_004415.4(DSP):c.7205G>C (p.Ser2402Thr)
|
|
|
NM_004415.4(DSP):c.7249G>A (p.Asp2417Asn)
|
|
|
NM_004415.4(DSP):c.726+1G>A
|
|
|
NM_004415.4(DSP):c.7327C>T (p.Leu2443Phe)
|
rs864309585
|
|
NM_004415.4(DSP):c.7347GAA[1] (p.Lys2451del)
|
rs766860183
|
|
NM_004415.4(DSP):c.7381C>T (p.Leu2461Phe)
|
rs201863784
|
|
NM_004415.4(DSP):c.7382T>A (p.Leu2461His)
|
|
|
NM_004415.4(DSP):c.7385G>A (p.Arg2462Lys)
|
|
|
NM_004415.4(DSP):c.743T>C (p.Ile248Thr)
|
rs1455602530
|
|
NM_004415.4(DSP):c.7477T>G (p.Phe2493Val)
|
rs138798656
|
|
NM_004415.4(DSP):c.7579C>G (p.Gln2527Glu)
|
rs2113702673
|
|
NM_004415.4(DSP):c.7589T>C (p.Ile2530Thr)
|
rs768564872
|
|
NM_004415.4(DSP):c.7592A>C (p.Gln2531Pro)
|
|
|
NM_004415.4(DSP):c.7612C>T (p.Leu2538Phe)
|
|
|
NM_004415.4(DSP):c.7643G>C (p.Arg2548Pro)
|
|
|
NM_004415.4(DSP):c.7648G>A (p.Gly2550Ser)
|
rs781151826
|
|
NM_004415.4(DSP):c.7678A>G (p.Met2560Val)
|
|
|
NM_004415.4(DSP):c.7718T>C (p.Met2573Thr)
|
rs1759589574
|
|
NM_004415.4(DSP):c.7747A>C (p.Ser2583Arg)
|
|
|
NM_004415.4(DSP):c.777+1G>A
|
|
|
NM_004415.4(DSP):c.781G>A (p.Ala261Thr)
|
rs967465931
|
|
NM_004415.4(DSP):c.7823C>A (p.Ser2608Tyr)
|
rs777066674
|
|
NM_004415.4(DSP):c.782C>G (p.Ala261Gly)
|
|
|
NM_004415.4(DSP):c.7831G>T (p.Asp2611Tyr)
|
|
|
NM_004415.4(DSP):c.7939G>A (p.Gly2647Ser)
|
|
|
NM_004415.4(DSP):c.7991C>A (p.Thr2664Asn)
|
rs1759611499
|
|
NM_004415.4(DSP):c.8001G>C (p.Gln2667His)
|
rs758047603
|
|
NM_004415.4(DSP):c.8017G>A (p.Asp2673Asn)
|
|
|
NM_004415.4(DSP):c.8068C>A (p.Pro2690Thr)
|
|
|
NM_004415.4(DSP):c.8122T>A (p.Ser2708Thr)
|
rs924262414
|
|
NM_004415.4(DSP):c.8128G>T (p.Ala2710Ser)
|
rs1561705003
|
|
NM_004415.4(DSP):c.8132A>G (p.Glu2711Gly)
|
|
|
NM_004415.4(DSP):c.8173C>A (p.Arg2725Ser)
|
|
|
NM_004415.4(DSP):c.8183A>C (p.Glu2728Ala)
|
|
|
NM_004415.4(DSP):c.8208dup (p.Val2737fs)
|
rs1581825892
|
|
NM_004415.4(DSP):c.8213A>G (p.Asp2738Gly)
|
rs2113704486
|
|
NM_004415.4(DSP):c.8215C>T (p.Pro2739Ser)
|
|
|
NM_004415.4(DSP):c.822CAT[1] (p.Ile276del)
|
|
|
NM_004415.4(DSP):c.8230A>G (p.Arg2744Gly)
|
rs1198357388
|
|
NM_004415.4(DSP):c.8247A>C (p.Glu2749Asp)
|
|
|
NM_004415.4(DSP):c.8254C>T (p.Arg2752Trp)
|
|
|
NM_004415.4(DSP):c.8270A>C (p.Asp2757Ala)
|
|
|
NM_004415.4(DSP):c.8276G>A (p.Arg2759His)
|
rs936541705
|
|
NM_004415.4(DSP):c.8300C>G (p.Thr2767Ser)
|
|
|
NM_004415.4(DSP):c.8300C>T (p.Thr2767Ile)
|
rs34884895
|
|
NM_004415.4(DSP):c.8302A>G (p.Ser2768Gly)
|
|
|
NM_004415.4(DSP):c.8304C>G (p.Ser2768Arg)
|
|
|
NM_004415.4(DSP):c.8305A>G (p.Ser2769Gly)
|
|
|
NM_004415.4(DSP):c.8347A>G (p.Ile2783Val)
|
rs786205417
|
|
NM_004415.4(DSP):c.8426C>T (p.Ser2809Leu)
|
|
|
NM_004415.4(DSP):c.8440C>A (p.Pro2814Thr)
|
rs1303168294
|
|
NM_004415.4(DSP):c.8441C>T (p.Pro2814Leu)
|
rs756310918
|
|
NM_004415.4(DSP):c.8464G>C (p.Ala2822Pro)
|
|
|
NM_004415.4(DSP):c.8492C>T (p.Ser2831Leu)
|
|
|
NM_004415.4(DSP):c.8493_8504dup (p.2827_2830SGSR[6])
|
rs748194022
|
|
NM_004415.4(DSP):c.8496ATCTCGCTCCGG[3] (p.2827SGSR[6])
|
rs397516971
|
|
NM_004415.4(DSP):c.8513G>A (p.Arg2838His)
|
rs930055191
|
|
NM_004415.4(DSP):c.8518G>A (p.Gly2840Arg)
|
|
|
NM_004415.4(DSP):c.8527A>C (p.Ser2843Arg)
|
|
|
NM_004415.4(DSP):c.8560G>A (p.Gly2854Arg)
|
|
|
NM_004415.4(DSP):c.8577_8588del (p.2858YS[1])
|
rs2113705755
|
|
NM_004415.4(DSP):c.8591T>A (p.Phe2864Tyr)
|
rs1554109334
|
|
NM_004415.4(DSP):c.8596AGT[1] (p.Ser2868del)
|
|
|
NM_004415.4(DSP):c.898G>T (p.Asp300Tyr)
|
|
|
NM_004415.4(DSP):c.913A>G (p.Ile305Val)
|
rs17604693
|
|
NM_004415.4(DSP):c.922A>C (p.Lys308Gln)
|
rs1060500617
|
|
NM_004415.4(DSP):c.935_937del (p.Phe312del)
|
rs794728138
|
|
NM_004415.4(DSP):c.938C>T (p.Ser313Phe)
|
|
|
NM_004415.4(DSP):c.944G>T (p.Arg315Leu)
|
rs558825586
|
|
NM_004415.4(DSP):c.967G>C (p.Glu323Gln)
|
rs1057522287
|
|
NM_004415.4(DSP):c.983A>C (p.Lys328Thr)
|
|
|
NM_004444.5(EPHB4):c.1020C>G (p.His340Gln)
|
|
|
NM_004444.5(EPHB4):c.1034C>G (p.Ala345Gly)
|
|
|
NM_004444.5(EPHB4):c.1063C>T (p.Leu355Phe)
|
|
|
NM_004444.5(EPHB4):c.10C>T (p.Arg4Trp)
|
|
|
NM_004444.5(EPHB4):c.1120G>T (p.Gly374Trp)
|
|
|
NM_004444.5(EPHB4):c.1139A>G (p.Asp380Gly)
|
|
|
NM_004444.5(EPHB4):c.11G>A (p.Arg4Gln)
|
|
|
NM_004444.5(EPHB4):c.1250C>T (p.Thr417Met)
|
|
|
NM_004444.5(EPHB4):c.1296G>T (p.Glu432Asp)
|
|
|
NM_004444.5(EPHB4):c.1319T>C (p.Ile440Thr)
|
|
|
NM_004444.5(EPHB4):c.1378C>T (p.Pro460Ser)
|
|
|
NM_004444.5(EPHB4):c.1379C>T (p.Pro460Leu)
|
|
|
NM_004444.5(EPHB4):c.1390G>A (p.Val464Met)
|
|
|
NM_004444.5(EPHB4):c.1429G>A (p.Glu477Lys)
|
|
|
NM_004444.5(EPHB4):c.1435C>T (p.Pro479Ser)
|
|
|
NM_004444.5(EPHB4):c.1448G>A (p.Arg483Gln)
|
|
|
NM_004444.5(EPHB4):c.1471C>T (p.Arg491Trp)
|
|
|
NM_004444.5(EPHB4):c.1483C>T (p.Arg495Trp)
|
|
|
NM_004444.5(EPHB4):c.1520T>G (p.Val507Gly)
|
|
|
NM_004444.5(EPHB4):c.1526C>T (p.Ala509Val)
|
|
|
NM_004444.5(EPHB4):c.1538C>A (p.Ala513Asp)
|
|
|
NM_004444.5(EPHB4):c.1603C>T (p.Arg535Trp)
|
|
|
NM_004444.5(EPHB4):c.160A>G (p.Ser54Gly)
|
|
|
NM_004444.5(EPHB4):c.163G>A (p.Val55Met)
|
|
|
NM_004444.5(EPHB4):c.1655T>G (p.Val552Gly)
|
|
|
NM_004444.5(EPHB4):c.167G>A (p.Arg56His)
|
|
|
NM_004444.5(EPHB4):c.1736G>T (p.Gly579Val)
|
|
|
NM_004444.5(EPHB4):c.1759A>G (p.Thr587Ala)
|
|
|
NM_004444.5(EPHB4):c.1799A>G (p.Asn600Ser)
|
|
|
NM_004444.5(EPHB4):c.1870+5G>C
|
|
|
NM_004444.5(EPHB4):c.1892G>A (p.Arg631Gln)
|
|
|
NM_004444.5(EPHB4):c.1976G>A (p.Arg659His)
|
|
|
NM_004444.5(EPHB4):c.2032C>T (p.Arg678Cys)
|
|
|
NM_004444.5(EPHB4):c.209C>T (p.Ala70Val)
|
|
|
NM_004444.5(EPHB4):c.2114T>C (p.Leu705Pro)
|
|
|
NM_004444.5(EPHB4):c.2119-1G>C
|
|
|
NM_004444.5(EPHB4):c.2126A>T (p.Asp709Val)
|
|
|
NM_004444.5(EPHB4):c.2158A>G (p.Met720Val)
|
|
|
NM_004444.5(EPHB4):c.2159T>C (p.Met720Thr)
|
|
|
NM_004444.5(EPHB4):c.2197G>A (p.Glu733Lys)
|
|
|
NM_004444.5(EPHB4):c.2252A>T (p.Asn751Ile)
|
|
|
NM_004444.5(EPHB4):c.2303A>G (p.Asn768Ser)
|
|
|
NM_004444.5(EPHB4):c.2350A>G (p.Ile784Val)
|
|
|
NM_004444.5(EPHB4):c.2417A>T (p.Tyr806Phe)
|
|
|
NM_004444.5(EPHB4):c.2448T>G (p.Phe816Leu)
|
|
|
NM_004444.5(EPHB4):c.250G>A (p.Val84Ile)
|
|
|
NM_004444.5(EPHB4):c.2635C>T (p.Arg879Trp)
|
rs2116413763
|
|
NM_004444.5(EPHB4):c.263C>T (p.Ala88Val)
|
|
|
NM_004444.5(EPHB4):c.2689C>A (p.Pro897Thr)
|
|
|
NM_004444.5(EPHB4):c.2689C>G (p.Pro897Ala)
|
|
|
NM_004444.5(EPHB4):c.271C>T (p.Arg91Cys)
|
|
|
NM_004444.5(EPHB4):c.274T>G (p.Phe92Val)
|
|
|
NM_004444.5(EPHB4):c.2770T>A (p.Tyr924Asn)
|
|
|
NM_004444.5(EPHB4):c.2771A>G (p.Tyr924Cys)
|
|
|
NM_004444.5(EPHB4):c.2791G>A (p.Ala931Thr)
|
rs1304579305
|
|
NM_004444.5(EPHB4):c.2838C>A (p.Asp946Glu)
|
|
|
NM_004444.5(EPHB4):c.2839C>A (p.Leu947Met)
|
|
|
NM_004444.5(EPHB4):c.2846G>A (p.Arg949Gln)
|
|
|
NM_004444.5(EPHB4):c.2890A>G (p.Ser964Gly)
|
|
|
NM_004444.5(EPHB4):c.28G>A (p.Ala10Thr)
|
|
|
NM_004444.5(EPHB4):c.291C>G (p.Cys97Trp)
|
|
|
NM_004444.5(EPHB4):c.2923G>A (p.Gly975Arg)
|
|
|
NM_004444.5(EPHB4):c.2948C>T (p.Pro983Leu)
|
|
|
NM_004444.5(EPHB4):c.2954C>T (p.Pro985Leu)
|
|
|
NM_004444.5(EPHB4):c.31T>A (p.Ser11Thr)
|
|
|
NM_004444.5(EPHB4):c.329C>G (p.Thr110Ser)
|
|
|
NM_004444.5(EPHB4):c.351G>C (p.Glu117Asp)
|
|
|
NM_004444.5(EPHB4):c.380C>T (p.Thr127Met)
|
|
|
NM_004444.5(EPHB4):c.41C>T (p.Ala14Val)
|
|
|
NM_004444.5(EPHB4):c.442C>T (p.Arg148Trp)
|
|
|
NM_004444.5(EPHB4):c.449G>A (p.Arg150His)
|
|
|
NM_004444.5(EPHB4):c.469G>A (p.Gly157Arg)
|
|
|
NM_004444.5(EPHB4):c.574C>A (p.Leu192Ile)
|
|
|
NM_004444.5(EPHB4):c.574C>G (p.Leu192Val)
|
|
|
NM_004444.5(EPHB4):c.602C>T (p.Thr201Ile)
|
|
|
NM_004444.5(EPHB4):c.655G>A (p.Val219Met)
|
|
|
NM_004444.5(EPHB4):c.670G>T (p.Val224Leu)
|
|
|
NM_004444.5(EPHB4):c.692C>T (p.Pro231Leu)
|
|
|
NM_004444.5(EPHB4):c.719G>C (p.Arg240Pro)
|
|
|
NM_004444.5(EPHB4):c.778G>A (p.Glu260Lys)
|
|
|
NM_004444.5(EPHB4):c.781G>A (p.Ala261Thr)
|
|
|
NM_004444.5(EPHB4):c.785C>T (p.Ala262Val)
|
|
|
NM_004444.5(EPHB4):c.868G>T (p.Ala290Ser)
|
|
|
NM_004444.5(EPHB4):c.914G>A (p.Arg305His)
|
|
|
NM_004444.5(EPHB4):c.937A>G (p.Thr313Ala)
|
|
|
NM_004444.5(EPHB4):c.997C>T (p.Arg333Cys)
|
|
|
NM_004588.5(SCN2B):c.110C>T (p.Thr37Ile)
|
|
|
NM_004588.5(SCN2B):c.136G>A (p.Ala46Thr)
|
|
|
NM_004588.5(SCN2B):c.146C>T (p.Pro49Leu)
|
|
|
NM_004588.5(SCN2B):c.241C>T (p.Leu81Phe)
|
|
|
NM_004588.5(SCN2B):c.263T>C (p.Ile88Thr)
|
|
|
NM_004588.5(SCN2B):c.280C>T (p.Arg94Trp)
|
|
|
NM_004588.5(SCN2B):c.295G>T (p.Val99Leu)
|
rs772817742
|
|
NM_004588.5(SCN2B):c.303C>G (p.Phe101Leu)
|
|
|
NM_004588.5(SCN2B):c.325G>A (p.Asp109Asn)
|
|
|
NM_004588.5(SCN2B):c.34T>G (p.Phe12Val)
|
|
|
NM_004588.5(SCN2B):c.37A>C (p.Ser13Arg)
|
|
|
NM_004588.5(SCN2B):c.404G>A (p.Arg135His)
|
|
|
NM_004588.5(SCN2B):c.436G>A (p.Val146Ile)
|
|
|
NM_004588.5(SCN2B):c.452C>A (p.Pro151His)
|
rs765701955
|
|
NM_004588.5(SCN2B):c.457G>A (p.Glu153Lys)
|
|
|
NM_004588.5(SCN2B):c.511G>C (p.Ala171Pro)
|
|
|
NM_004588.5(SCN2B):c.539T>G (p.Val180Gly)
|
|
|
NM_004588.5(SCN2B):c.53G>A (p.Ser18Asn)
|
|
|
NM_004588.5(SCN2B):c.547G>A (p.Val183Met)
|
|
|
NM_004588.5(SCN2B):c.554G>C (p.Arg185Thr)
|
|
|
NM_004588.5(SCN2B):c.554G>T (p.Arg185Ile)
|
|
|
NM_004588.5(SCN2B):c.555A>T (p.Arg185Ser)
|
|
|
NM_004588.5(SCN2B):c.575G>A (p.Ser192Asn)
|
|
|
NM_004588.5(SCN2B):c.576C>A (p.Ser192Arg)
|
|
|
NM_004588.5(SCN2B):c.578C>T (p.Thr193Ile)
|
|
|
NM_004588.5(SCN2B):c.593C>G (p.Thr198Ser)
|
|
|
NM_004588.5(SCN2B):c.598G>A (p.Glu200Lys)
|
|
|
NM_004588.5(SCN2B):c.5A>C (p.His2Pro)
|
|
|
NM_004588.5(SCN2B):c.634G>C (p.Asp212His)
|
|
|
NM_004588.5(SCN2B):c.644A>T (p.Lys215Met)
|
|
|
NM_004588.5(SCN2B):c.73C>G (p.Pro25Ala)
|
|
|
NM_004588.5(SCN2B):c.73_74delinsG (p.Pro25fs)
|
|
|
NM_004612.4(TGFBR1):c.62C>T (p.Ala21Val)
|
rs1554695407
|
|
NM_004982.4(KCNJ8):c.103C>G (p.Arg35Gly)
|
|
|
NM_004982.4(KCNJ8):c.1055G>A (p.Arg352Gln)
|
|
|
NM_004982.4(KCNJ8):c.1067G>A (p.Arg356Gln)
|
|
|
NM_004982.4(KCNJ8):c.1174A>G (p.Met392Val)
|
|
|
NM_004982.4(KCNJ8):c.1182G>C (p.Arg394Ser)
|
rs730880120
|
|
NM_004982.4(KCNJ8):c.1192_1209dup (p.Ile398_Ser403dup)
|
rs768365303
|
|
NM_004982.4(KCNJ8):c.1214T>C (p.Leu405Pro)
|
|
|
NM_004982.4(KCNJ8):c.148A>G (p.Ile50Val)
|
|
|
NM_004982.4(KCNJ8):c.289G>C (p.Ala97Pro)
|
|
|
NM_004982.4(KCNJ8):c.327_341dup (p.Gly114_Leu115insMetGluLysSerGly)
|
|
|
NM_004982.4(KCNJ8):c.353C>G (p.Thr118Ser)
|
rs770087869
|
|
NM_004982.4(KCNJ8):c.43G>T (p.Ala15Ser)
|
|
|
NM_004982.4(KCNJ8):c.47G>A (p.Arg16His)
|
|
|
NM_004982.4(KCNJ8):c.49A>G (p.Ile17Val)
|
|
|
NM_004982.4(KCNJ8):c.538A>G (p.Lys180Glu)
|
|
|
NM_004982.4(KCNJ8):c.55G>T (p.Ala19Ser)
|
|
|
NM_004982.4(KCNJ8):c.620G>T (p.Cys207Phe)
|
|
|
NM_004982.4(KCNJ8):c.677G>A (p.Arg226His)
|
|
|
NM_004982.4(KCNJ8):c.707C>G (p.Pro236Arg)
|
|
|
NM_004982.4(KCNJ8):c.719T>C (p.Val240Ala)
|
rs146747000
|
|
NM_004982.4(KCNJ8):c.727A>G (p.Ile243Val)
|
|
|
NM_004982.4(KCNJ8):c.760A>G (p.Ile254Val)
|
rs1235054283
|
|
NM_004982.4(KCNJ8):c.765G>C (p.Glu255Asp)
|
|
|
NM_004982.4(KCNJ8):c.788C>T (p.Ala263Val)
|
|
|
NM_004982.4(KCNJ8):c.802T>C (p.Cys268Arg)
|
|
|
NM_004982.4(KCNJ8):c.808G>A (p.Val270Met)
|
|
|
NM_004982.4(KCNJ8):c.83G>C (p.Arg28Pro)
|
rs768851540
|
|
NM_004982.4(KCNJ8):c.848C>T (p.Thr283Ile)
|
|
|
NM_004982.4(KCNJ8):c.852C>A (p.Asp284Glu)
|
|
|
NM_004982.4(KCNJ8):c.867C>G (p.Asp289Glu)
|
|
|
NM_004982.4(KCNJ8):c.88C>A (p.Arg30Ser)
|
rs749697322
|
|
NM_004982.4(KCNJ8):c.88C>T (p.Arg30Cys)
|
rs749697322
|
|
NM_004982.4(KCNJ8):c.89G>A (p.Arg30His)
|
|
|
NM_004982.4(KCNJ8):c.952A>G (p.Ile318Val)
|
|
|
NM_004982.4(KCNJ8):c.98A>G (p.Lys33Arg)
|
|
|
NM_004985.5(KRAS):c.153T>G (p.Cys51Trp)
|
|
|
NM_004985.5(KRAS):c.183A>C (p.Gln61His)
|
rs17851045
|
|
NM_004985.5(KRAS):c.326T>A (p.Val109Glu)
|
|
|
NM_004985.5(KRAS):c.4A>C (p.Thr2Pro)
|
|
|
NM_005120.3(MED12):c.6288GCA[5] (p.Gln2114_Gln2115del)
|
rs766775649
|
|
NM_005159.5(ACTC1):c.-3A>T
|
|
|
NM_005159.5(ACTC1):c.101C>G (p.Pro34Arg)
|
rs1373760624
|
|
NM_005159.5(ACTC1):c.1067A>G (p.Gln356Arg)
|
rs2140428997
|
|
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.1111A>G (p.Ile371Val)
|
|
|
NM_005159.5(ACTC1):c.1112T>C (p.Ile371Thr)
|
rs730880407
|
|
NM_005159.5(ACTC1):c.1120C>T (p.Arg374Cys)
|
|
|
NM_005159.5(ACTC1):c.158A>T (p.Asp53Val)
|
rs1555418919
|
|
NM_005159.5(ACTC1):c.18G>T (p.Glu6Asp)
|
|
|
NM_005159.5(ACTC1):c.191G>A (p.Arg64Lys)
|
rs869025353
|
|
NM_005159.5(ACTC1):c.198C>G (p.Ile66Met)
|
|
|
NM_005159.5(ACTC1):c.1A>T (p.Met1Leu)
|
|
|
NM_005159.5(ACTC1):c.22A>G (p.Thr8Ala)
|
rs730880390
|
|
NM_005159.5(ACTC1):c.302A>G (p.Glu101Gly)
|
|
|
NM_005159.5(ACTC1):c.374T>C (p.Met125Thr)
|
rs1595761344
|
|
NM_005159.5(ACTC1):c.477T>G (p.Asp159Glu)
|
rs886039144
|
|
NM_005159.5(ACTC1):c.485C>T (p.Thr162Ile)
|
rs1379875828
|
|
NM_005159.5(ACTC1):c.496C>G (p.Pro166Ala)
|
rs267606628
|
|
NM_005159.5(ACTC1):c.500T>C (p.Ile167Thr)
|
rs730880409
|
|
NM_005159.5(ACTC1):c.521C>A (p.Pro174His)
|
|
|
NM_005159.5(ACTC1):c.523dup (p.His175fs)
|
rs730880389
|
|
NM_005159.5(ACTC1):c.532A>T (p.Met178Leu)
|
rs1555418829
|
|
NM_005159.5(ACTC1):c.554G>A (p.Arg185Gln)
|
|
|
NM_005159.5(ACTC1):c.583C>T (p.Leu195Phe)
|
rs1891723828
|
|
NM_005159.5(ACTC1):c.61G>A (p.Ala21Thr)
|
|
|
NM_005159.5(ACTC1):c.69T>G (p.Phe23Leu)
|
rs1555419008
|
|
NM_005159.5(ACTC1):c.713T>C (p.Leu238Pro)
|
rs770397773
|
|
NM_005159.5(ACTC1):c.751A>G (p.Thr251Ala)
|
rs730880039
|
|
NM_005159.5(ACTC1):c.752C>T (p.Thr251Ile)
|
|
|
NM_005159.5(ACTC1):c.755T>C (p.Ile252Thr)
|
rs730880398
|
|
NM_005159.5(ACTC1):c.769T>C (p.Phe257Leu)
|
rs730880399
|
|
NM_005159.5(ACTC1):c.778C>T (p.Pro260Ser)
|
|
|
NM_005159.5(ACTC1):c.793C>G (p.Gln265Glu)
|
rs727504323
|
|
NM_005159.5(ACTC1):c.853A>G (p.Met285Val)
|
|
|
NM_005159.5(ACTC1):c.875G>C (p.Arg292Pro)
|
|
|
NM_005159.5(ACTC1):c.892A>G (p.Asn298Asp)
|
rs1595760259
|
|
NM_005159.5(ACTC1):c.940C>T (p.Arg314Cys)
|
|
|
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.970C>T (p.Pro324Ser)
|
rs886038880
|
|
NM_005159.5(ACTC1):c.973A>G (p.Ser325Gly)
|
rs1555418679
|
|
NM_005159.5(ACTC1):c.991A>T (p.Ile331Phe)
|
rs730880405
|
|
NM_005184.4(CALM3):c.-3G>A
|
|
|
NM_005184.4(CALM3):c.178+3G>A
|
|
|
NM_005184.4(CALM3):c.34+3G>A
|
rs775799940
|
|
NM_005184.4(CALM3):c.355G>A (p.Asp119Asn)
|
|
|
NM_005184.4(CALM3):c.394G>A (p.Asp132Asn)
|
rs2122250160
|
|
NM_005184.4(CALM3):c.421+5G>A
|
|
|
NM_005184.4(CALM3):c.42G>A (p.Lys14=)
|
|
|
NM_005184.4(CALM3):c.442G>A (p.Ala148Thr)
|
|
|
NM_005184.4(CALM3):c.77G>A (p.Gly26Asp)
|
|
|
NM_005188.4(CBL):c.1033C>G (p.Gln345Glu)
|
rs202095002
|
|
NM_005188.4(CBL):c.1132T>C (p.Phe378Leu)
|
|
|
NM_005188.4(CBL):c.121C>T (p.His41Tyr)
|
|
|
NM_005188.4(CBL):c.1220C>A (p.Ser407Tyr)
|
rs2135303902
|
|
NM_005188.4(CBL):c.1358C>T (p.Pro453Leu)
|
|
|
NM_005188.4(CBL):c.136C>A (p.His46Asn)
|
|
|
NM_005188.4(CBL):c.1393G>T (p.Asp465Tyr)
|
|
|
NM_005188.4(CBL):c.1400T>C (p.Leu467Pro)
|
rs1385198964
|
|
NM_005188.4(CBL):c.1439G>A (p.Arg480Gln)
|
rs1949969239
|
|
NM_005188.4(CBL):c.1531T>A (p.Ser511Thr)
|
|
|
NM_005188.4(CBL):c.1567G>T (p.Ala523Ser)
|
|
|
NM_005188.4(CBL):c.1601C>T (p.Pro534Leu)
|
|
|
NM_005188.4(CBL):c.1616T>C (p.Leu539Pro)
|
|
|
NM_005188.4(CBL):c.1633C>G (p.Pro545Ala)
|
|
|
NM_005188.4(CBL):c.1697C>G (p.Pro566Arg)
|
rs1428398685
|
|
NM_005188.4(CBL):c.1778G>A (p.Arg593Gln)
|
rs730880435
|
|
NM_005188.4(CBL):c.1789A>C (p.Lys597Gln)
|
|
|
NM_005188.4(CBL):c.1834A>G (p.Arg612Gly)
|
|
|
NM_005188.4(CBL):c.1847A>C (p.Asn616Thr)
|
rs376094293
|
|
NM_005188.4(CBL):c.1847A>G (p.Asn616Ser)
|
|
|
NM_005188.4(CBL):c.18G>T (p.Lys6Asn)
|
|
|
NM_005188.4(CBL):c.1928T>C (p.Leu643Pro)
|
|
|
NM_005188.4(CBL):c.1933A>G (p.Thr645Ala)
|
|
|
NM_005188.4(CBL):c.2070G>T (p.Glu690Asp)
|
|
|
NM_005188.4(CBL):c.2072A>C (p.Gln691Pro)
|
|
|
NM_005188.4(CBL):c.215A>T (p.Asn72Ile)
|
|
|
NM_005188.4(CBL):c.2164T>A (p.Cys722Ser)
|
|
|
NM_005188.4(CBL):c.2180A>G (p.Asp727Gly)
|
|
|
NM_005188.4(CBL):c.2209A>G (p.Ile737Val)
|
|
|
NM_005188.4(CBL):c.2378T>C (p.Ile793Thr)
|
|
|
NM_005188.4(CBL):c.2417A>T (p.Asp806Val)
|
|
|
NM_005188.4(CBL):c.2516G>C (p.Ser839Thr)
|
rs199771745
|
|
NM_005188.4(CBL):c.2558C>T (p.Ala853Val)
|
|
|
NM_005188.4(CBL):c.2612A>T (p.Tyr871Phe)
|
|
|
NM_005188.4(CBL):c.2644C>A (p.Gln882Lys)
|
|
|
NM_005188.4(CBL):c.266C>G (p.Pro89Arg)
|
|
|
NM_005188.4(CBL):c.31G>T (p.Ala11Ser)
|
|
|
NM_005188.4(CBL):c.32C>G (p.Ala11Gly)
|
|
|
NM_005188.4(CBL):c.338A>C (p.Glu113Ala)
|
|
|
NM_005188.4(CBL):c.385A>G (p.Thr129Ala)
|
|
|
NM_005188.4(CBL):c.401A>G (p.Lys134Arg)
|
rs2135266374
|
|
NM_005188.4(CBL):c.440C>T (p.Pro147Leu)
|
|
|
NM_005188.4(CBL):c.493C>G (p.Leu165Val)
|
rs1555229540
|
|
NM_005188.4(CBL):c.656T>C (p.Leu219Pro)
|
rs895664191
|
|
NM_005188.4(CBL):c.664A>G (p.Met222Val)
|
|
|
NM_005188.4(CBL):c.682A>G (p.Ile228Val)
|
|
|
NM_005188.4(CBL):c.68G>C (p.Gly23Ala)
|
|
|
NM_005188.4(CBL):c.712G>A (p.Val238Ile)
|
|
|
NM_005188.4(CBL):c.71G>C (p.Gly24Ala)
|
|
|
NM_005343.4(HRAS):c.134T>A (p.Val45Asp)
|
rs1028352031
|
|
NM_005343.4(HRAS):c.202C>G (p.Arg68Gly)
|
rs1370690781
|
|
NM_005343.4(HRAS):c.290+3G>T
|
|
|
NM_005343.4(HRAS):c.302A>T (p.Lys101Ile)
|
|
|
NM_005343.4(HRAS):c.317C>G (p.Ser106Trp)
|
rs730880462
|
|
NM_005343.4(HRAS):c.426C>G (p.Ile142Met)
|
rs533567288
|
|
NM_005343.4(HRAS):c.535C>T (p.Pro179Ser)
|
rs1201430199
|
|
NM_005472.5(KCNE3):c.104C>T (p.Pro35Leu)
|
|
|
NM_005472.5(KCNE3):c.139C>G (p.Arg47Gly)
|
|
|
NM_005472.5(KCNE3):c.139C>T (p.Arg47Trp)
|
|
|
NM_005472.5(KCNE3):c.177G>A (p.Met59Ile)
|
|
|
NM_005472.5(KCNE3):c.179A>G (p.Tyr60Cys)
|
|
|
NM_005472.5(KCNE3):c.195G>A (p.Met65Ile)
|
|
|
NM_005472.5(KCNE3):c.239C>T (p.Thr80Ile)
|
|
|
NM_005472.5(KCNE3):c.248G>C (p.Arg83Pro)
|
rs17215437
|
|
NM_005472.5(KCNE3):c.250A>G (p.Lys84Glu)
|
|
|
NM_005472.5(KCNE3):c.277C>T (p.His93Tyr)
|
|
|
NM_005472.5(KCNE3):c.295C>T (p.Arg99Cys)
|
|
|
NM_005472.5(KCNE3):c.37A>G (p.Ser13Gly)
|
rs1466840832
|
|
NM_005472.5(KCNE3):c.38G>A (p.Ser13Asn)
|
|
|
NM_005472.5(KCNE3):c.69del (p.Thr24fs)
|
rs547172459
|
|
NM_005472.5(KCNE3):c.83A>G (p.Asn28Ser)
|
|
|
NM_005472.5(KCNE3):c.92G>A (p.Cys31Tyr)
|
|
|
NM_005472.5(KCNE3):c.94del (p.Arg32fs)
|
|
|
NM_005477.3(HCN4):c.-4C>T
|
|
|
NM_005477.3(HCN4):c.1004T>G (p.Met335Arg)
|
|
|
NM_005477.3(HCN4):c.1020C>G (p.Ser340Arg)
|
|
|
NM_005477.3(HCN4):c.1026C>G (p.Phe342Leu)
|
rs2043017188
|
|
NM_005477.3(HCN4):c.1069C>T (p.Leu357Phe)
|
|
|
NM_005477.3(HCN4):c.106G>A (p.Gly36Arg)
|
rs886039001
|
|
NM_005477.3(HCN4):c.106G>C (p.Gly36Arg)
|
rs886039001
|
|
NM_005477.3(HCN4):c.1075G>T (p.Val359Leu)
|
|
|
NM_005477.3(HCN4):c.1090G>T (p.Asp364Tyr)
|
rs151004999
|
|
NM_005477.3(HCN4):c.1139C>T (p.Thr380Met)
|
|
|
NM_005477.3(HCN4):c.1159C>G (p.Arg387Gly)
|
rs1420807618
|
|
NM_005477.3(HCN4):c.1159C>T (p.Arg387Cys)
|
rs1420807618
|
|
NM_005477.3(HCN4):c.119G>A (p.Arg40His)
|
|
|
NM_005477.3(HCN4):c.1209+2_1209+3insGTGA
|
rs786205418
|
|
NM_005477.3(HCN4):c.1237A>G (p.Ser413Gly)
|
|
|
NM_005477.3(HCN4):c.1252A>G (p.Ile418Val)
|
|
|
NM_005477.3(HCN4):c.130A>T (p.Ser44Cys)
|
|
|
NM_005477.3(HCN4):c.1342G>A (p.Asp448Asn)
|
|
|
NM_005477.3(HCN4):c.139A>C (p.Ser47Arg)
|
|
|
NM_005477.3(HCN4):c.1419G>A (p.Met473Ile)
|
rs1060500105
|
|
NM_005477.3(HCN4):c.1435A>C (p.Ile479Leu)
|
rs1555475985
|
|
NM_005477.3(HCN4):c.155C>G (p.Pro52Arg)
|
|
|
NM_005477.3(HCN4):c.1590G>C (p.Lys530Asn)
|
rs1555475961
|
|
NM_005477.3(HCN4):c.1623C>A (p.His541Gln)
|
|
|
NM_005477.3(HCN4):c.1642C>T (p.Arg548Trp)
|
rs2042893178
|
|
NM_005477.3(HCN4):c.1698G>C (p.Glu566Asp)
|
|
|
NM_005477.3(HCN4):c.170C>T (p.Ser57Phe)
|
|
|
NM_005477.3(HCN4):c.172C>T (p.Pro58Ser)
|
rs1029043200
|
|
NM_005477.3(HCN4):c.1733G>A (p.Arg578Gln)
|
|
|
NM_005477.3(HCN4):c.1738-5G>A
|
|
|
NM_005477.3(HCN4):c.173C>T (p.Pro58Leu)
|
|
|
NM_005477.3(HCN4):c.1770_1771delinsTT (p.Ala591Ser)
|
|
|
NM_005477.3(HCN4):c.1771G>T (p.Ala591Ser)
|
|
|
NM_005477.3(HCN4):c.17C>A (p.Pro6Gln)
|
rs772656493
|
|
NM_005477.3(HCN4):c.17C>G (p.Pro6Arg)
|
rs772656493
|
|
NM_005477.3(HCN4):c.1834C>T (p.Arg612Cys)
|
|
|
NM_005477.3(HCN4):c.1835G>A (p.Arg612His)
|
|
|
NM_005477.3(HCN4):c.1949C>G (p.Thr650Ser)
|
rs2151215400
|
|
NM_005477.3(HCN4):c.1981A>G (p.Ile661Val)
|
|
|
NM_005477.3(HCN4):c.2017G>A (p.Val673Met)
|
rs1337923566
|
|
NM_005477.3(HCN4):c.2036G>A (p.Cys679Tyr)
|
rs2042884985
|
|
NM_005477.3(HCN4):c.2096T>C (p.Met699Thr)
|
|
|
NM_005477.3(HCN4):c.211G>A (p.Ala71Thr)
|
|
|
NM_005477.3(HCN4):c.212C>T (p.Ala71Val)
|
|
|
NM_005477.3(HCN4):c.2137C>T (p.Arg713Cys)
|
rs758371313
|
|
NM_005477.3(HCN4):c.2143+5G>A
|
rs547362030
|
|
NM_005477.3(HCN4):c.2143+5G>C
|
|
|
NM_005477.3(HCN4):c.215T>A (p.Leu72His)
|
|
|
NM_005477.3(HCN4):c.217G>A (p.Gly73Arg)
|
|
|
NM_005477.3(HCN4):c.2212G>A (p.Glu738Lys)
|
rs1029680367
|
|
NM_005477.3(HCN4):c.2243A>G (p.His748Arg)
|
rs750677813
|
|
NM_005477.3(HCN4):c.2257G>A (p.Ala753Thr)
|
|
|
NM_005477.3(HCN4):c.2305C>T (p.Pro769Ser)
|
|
|
NM_005477.3(HCN4):c.2306C>A (p.Pro769His)
|
|
|
NM_005477.3(HCN4):c.2359G>T (p.Ala787Ser)
|
|
|
NM_005477.3(HCN4):c.2377A>G (p.Ile793Val)
|
|
|
NM_005477.3(HCN4):c.23T>G (p.Met8Arg)
|
rs749801134
|
|
NM_005477.3(HCN4):c.2438G>A (p.Gly813Glu)
|
|
|
NM_005477.3(HCN4):c.2438G>T (p.Gly813Val)
|
|
|
NM_005477.3(HCN4):c.2474A>T (p.His825Leu)
|
|
|
NM_005477.3(HCN4):c.2483G>A (p.Arg828Gln)
|
|
|
NM_005477.3(HCN4):c.250G>A (p.Ala84Thr)
|
|
|
NM_005477.3(HCN4):c.257A>G (p.Lys86Arg)
|
|
|
NM_005477.3(HCN4):c.2636G>C (p.Ser879Thr)
|
rs1193496092
|
|
NM_005477.3(HCN4):c.2650C>A (p.Pro884Thr)
|
rs745819208
|
|
NM_005477.3(HCN4):c.2650C>T (p.Pro884Ser)
|
|
|
NM_005477.3(HCN4):c.2662G>A (p.Gly888Ser)
|
|
|
NM_005477.3(HCN4):c.2678C>T (p.Pro893Leu)
|
|
|
NM_005477.3(HCN4):c.2714C>T (p.Ala905Val)
|
|
|
NM_005477.3(HCN4):c.2717G>C (p.Gly906Ala)
|
|
|
NM_005477.3(HCN4):c.271G>C (p.Gly91Arg)
|
rs746252218
|
|
NM_005477.3(HCN4):c.2770C>T (p.Pro924Ser)
|
|
|
NM_005477.3(HCN4):c.2783del (p.Pro928fs)
|
rs1277827477
|
|
NM_005477.3(HCN4):c.2804C>A (p.Ser935Tyr)
|
rs775803239
|
|
NM_005477.3(HCN4):c.2839G>T (p.Gly947Trp)
|
|
|
NM_005477.3(HCN4):c.2846G>C (p.Arg949Pro)
|
rs752139441
|
|
NM_005477.3(HCN4):c.2864C>A (p.Pro955Gln)
|
rs371562763
|
|
NM_005477.3(HCN4):c.2872T>A (p.Phe958Ile)
|
rs1555475219
|
|
NM_005477.3(HCN4):c.2879C>A (p.Pro960Gln)
|
rs2042874463
|
|
NM_005477.3(HCN4):c.2888C>T (p.Pro963Leu)
|
|
|
NM_005477.3(HCN4):c.2929C>A (p.Gln977Lys)
|
rs1382370606
|
|
NM_005477.3(HCN4):c.2985G>C (p.Glu995Asp)
|
|
|
NM_005477.3(HCN4):c.2989C>A (p.Pro997Thr)
|
|
|
NM_005477.3(HCN4):c.2996G>A (p.Arg999Gln)
|
|
|
NM_005477.3(HCN4):c.3001C>A (p.Pro1001Thr)
|
|
|
NM_005477.3(HCN4):c.3034G>A (p.Gly1012Arg)
|
|
|
NM_005477.3(HCN4):c.3065G>A (p.Arg1022Gln)
|
rs1205818947
|
|
NM_005477.3(HCN4):c.3065G>T (p.Arg1022Leu)
|
|
|
NM_005477.3(HCN4):c.3077G>A (p.Ser1026Asn)
|
rs886039118
|
|
NM_005477.3(HCN4):c.3082C>A (p.Pro1028Thr)
|
|
|
NM_005477.3(HCN4):c.3082C>T (p.Pro1028Ser)
|
|
|
NM_005477.3(HCN4):c.3083C>G (p.Pro1028Arg)
|
|
|
NM_005477.3(HCN4):c.3100C>A (p.Pro1034Thr)
|
rs1158677290
|
|
NM_005477.3(HCN4):c.3100C>T (p.Pro1034Ser)
|
rs1158677290
|
|
NM_005477.3(HCN4):c.3110C>A (p.Thr1037Asn)
|
|
|
NM_005477.3(HCN4):c.3125C>T (p.Pro1042Leu)
|
rs2042871424
|
|
NM_005477.3(HCN4):c.3158T>C (p.Leu1053Pro)
|
rs2042871166
|
|
NM_005477.3(HCN4):c.315C>A (p.Ser105Arg)
|
|
|
NM_005477.3(HCN4):c.3166_3168delinsACTGCATCCAGCCCCCCACCACCC (p.Pro1055_Pro1056insThrAlaSerSerProProPro)
|
|
|
NM_005477.3(HCN4):c.3179C>A (p.Pro1060His)
|
|
|
NM_005477.3(HCN4):c.3179C>G (p.Pro1060Arg)
|
|
|
NM_005477.3(HCN4):c.3184C>G (p.Pro1062Ala)
|
|
|
NM_005477.3(HCN4):c.319G>A (p.Gly107Ser)
|
rs2043137058
|
|
NM_005477.3(HCN4):c.3202C>A (p.Arg1068Ser)
|
|
|
NM_005477.3(HCN4):c.3212C>T (p.Thr1071Ile)
|
|
|
NM_005477.3(HCN4):c.322G>C (p.Gly108Arg)
|
rs1057524788
|
|
NM_005477.3(HCN4):c.3242A>G (p.Gln1081Arg)
|
rs1419820366
|
|
NM_005477.3(HCN4):c.3297G>C (p.Gln1099His)
|
|
|
NM_005477.3(HCN4):c.3310G>A (p.Ala1104Thr)
|
|
|
NM_005477.3(HCN4):c.3322T>G (p.Ser1108Ala)
|
|
|
NM_005477.3(HCN4):c.3338T>C (p.Met1113Thr)
|
|
|
NM_005477.3(HCN4):c.3341C>T (p.Ala1114Val)
|
|
|
NM_005477.3(HCN4):c.3353T>A (p.Leu1118His)
|
|
|
NM_005477.3(HCN4):c.3377G>A (p.Ser1126Asn)
|
|
|
NM_005477.3(HCN4):c.3378C>A (p.Ser1126Arg)
|
|
|
NM_005477.3(HCN4):c.3378C>G (p.Ser1126Arg)
|
rs758673317
|
|
NM_005477.3(HCN4):c.3385_3402dup (p.Gly1134_Leu1135insSerGlySerSerGlyGly)
|
|
|
NM_005477.3(HCN4):c.338_352dup (p.Ser117_Ser118insThrGlySerGlySer)
|
|
|
NM_005477.3(HCN4):c.3397G>A (p.Gly1133Arg)
|
rs532186403
|
|
NM_005477.3(HCN4):c.3446_3447delinsTT (p.His1149Leu)
|
rs2042867595
|
|
NM_005477.3(HCN4):c.3488C>A (p.Pro1163His)
|
rs756052150
|
|
NM_005477.3(HCN4):c.3497_3500del (p.Ser1166fs)
|
rs774674047
|
|
NM_005477.3(HCN4):c.3499_3504del (p.Leu1167_Phe1168del)
|
|
|
NM_005477.3(HCN4):c.3502_3505del (p.Phe1168fs)
|
rs786205259
|
|
NM_005477.3(HCN4):c.3503T>G (p.Phe1168Cys)
|
|
|
NM_005477.3(HCN4):c.3524C>A (p.Ser1175Tyr)
|
|
|
NM_005477.3(HCN4):c.3527G>C (p.Gly1176Ala)
|
|
|
NM_005477.3(HCN4):c.3536C>T (p.Pro1179Leu)
|
|
|
NM_005477.3(HCN4):c.3568G>A (p.Ala1190Thr)
|
rs372243234
|
|
NM_005477.3(HCN4):c.356A>C (p.His119Pro)
|
|
|
NM_005477.3(HCN4):c.3583G>T (p.Val1195Leu)
|
|
|
NM_005477.3(HCN4):c.3590C>T (p.Ser1197Phe)
|
|
|
NM_005477.3(HCN4):c.3600_3602delinsGTT (p.Ser1201Phe)
|
|
|
NM_005477.3(HCN4):c.3602C>T (p.Ser1201Phe)
|
|
|
NM_005477.3(HCN4):c.368A>G (p.His123Arg)
|
rs1555479000
|
|
NM_005477.3(HCN4):c.379G>A (p.Glu127Lys)
|
rs1056770175
|
|
NM_005477.3(HCN4):c.406G>A (p.Asp136Asn)
|
rs1294780632
|
|
NM_005477.3(HCN4):c.410C>T (p.Ala137Val)
|
|
|
NM_005477.3(HCN4):c.413C>A (p.Ser138Tyr)
|
rs1567801864
|
|
NM_005477.3(HCN4):c.415C>G (p.Pro139Ala)
|
|
|
NM_005477.3(HCN4):c.425A>G (p.Asp142Gly)
|
|
|
NM_005477.3(HCN4):c.445G>A (p.Ala149Thr)
|
rs531489450
|
|
NM_005477.3(HCN4):c.460C>T (p.Arg154Cys)
|
|
|
NM_005477.3(HCN4):c.47C>T (p.Pro16Leu)
|
rs2043139529
|
|
NM_005477.3(HCN4):c.483_500dup (p.Ala162_Pro167dup)
|
rs957058060
|
|
NM_005477.3(HCN4):c.487G>T (p.Ala163Ser)
|
|
|
NM_005477.3(HCN4):c.4G>T (p.Asp2Tyr)
|
|
|
NM_005477.3(HCN4):c.503C>T (p.Pro168Leu)
|
|
|
NM_005477.3(HCN4):c.514C>T (p.Pro172Ser)
|
|
|
NM_005477.3(HCN4):c.567A>C (p.Lys189Asn)
|
|
|
NM_005477.3(HCN4):c.597G>C (p.Gln199His)
|
|
|
NM_005477.3(HCN4):c.610G>A (p.Ala204Thr)
|
|
|
NM_005477.3(HCN4):c.620G>T (p.Arg207Leu)
|
|
|
NM_005477.3(HCN4):c.62C>T (p.Ala21Val)
|
|
|
NM_005477.3(HCN4):c.640A>T (p.Met214Leu)
|
|
|
NM_005477.3(HCN4):c.644A>G (p.Gln215Arg)
|
rs2151228399
|
|
NM_005477.3(HCN4):c.75C>G (p.Ile25Met)
|
|
|
NM_005477.3(HCN4):c.767A>G (p.His256Arg)
|
|
|
NM_005477.3(HCN4):c.79G>C (p.Asp27His)
|
|
|
NM_005477.3(HCN4):c.82G>T (p.Glu28Ter)
|
|
|
NM_005477.3(HCN4):c.881C>T (p.Pro294Leu)
|
|
|
NM_005477.3(HCN4):c.896A>G (p.Asn299Ser)
|
rs1057518303
|
|
NM_005502.4(ABCA1):c.1006G>A (p.Gly336Ser)
|
|
|
NM_005502.4(ABCA1):c.1138G>T (p.Val380Phe)
|
|
|
NM_005502.4(ABCA1):c.1145A>G (p.Lys382Arg)
|
|
|
NM_005502.4(ABCA1):c.1172C>A (p.Ala391Asp)
|
|
|
NM_005502.4(ABCA1):c.1329G>C (p.Arg443Ser)
|
|
|
NM_005502.4(ABCA1):c.1379C>T (p.Ala460Val)
|
|
|
NM_005502.4(ABCA1):c.1435G>C (p.Gly479Arg)
|
|
|
NM_005502.4(ABCA1):c.1442T>G (p.Val481Gly)
|
|
|
NM_005502.4(ABCA1):c.1468G>A (p.Glu490Lys)
|
|
|
NM_005502.4(ABCA1):c.1477C>G (p.Gln493Glu)
|
|
|
NM_005502.4(ABCA1):c.1492A>G (p.Ile498Val)
|
|
|
NM_005502.4(ABCA1):c.1516A>T (p.Asn506Tyr)
|
|
|
NM_005502.4(ABCA1):c.1590G>T (p.Arg530Ser)
|
|
|
NM_005502.4(ABCA1):c.1649A>T (p.His550Leu)
|
|
|
NM_005502.4(ABCA1):c.1685A>G (p.Asn562Ser)
|
|
|
NM_005502.4(ABCA1):c.17A>C (p.Gln6Pro)
|
|
|
NM_005502.4(ABCA1):c.1805A>C (p.Gln602Pro)
|
|
|
NM_005502.4(ABCA1):c.1826C>T (p.Thr609Met)
|
|
|
NM_005502.4(ABCA1):c.1834G>A (p.Glu612Lys)
|
|
|
NM_005502.4(ABCA1):c.1844C>T (p.Thr615Ile)
|
|
|
NM_005502.4(ABCA1):c.1883T>C (p.Val628Ala)
|
|
|
NM_005502.4(ABCA1):c.1960G>A (p.Val654Met)
|
|
|
NM_005502.4(ABCA1):c.2135A>T (p.Tyr712Phe)
|
|
|
NM_005502.4(ABCA1):c.2149G>A (p.Val717Met)
|
|
|
NM_005502.4(ABCA1):c.2233C>G (p.Leu745Val)
|
|
|
NM_005502.4(ABCA1):c.2249G>A (p.Gly750Glu)
|
|
|
NM_005502.4(ABCA1):c.2296G>T (p.Ala766Ser)
|
|
|
NM_005502.4(ABCA1):c.2315G>C (p.Gly772Ala)
|
|
|
NM_005502.4(ABCA1):c.2359T>G (p.Phe787Val)
|
|
|
NM_005502.4(ABCA1):c.2479A>G (p.Met827Val)
|
|
|
NM_005502.4(ABCA1):c.2479A>T (p.Met827Leu)
|
|
|
NM_005502.4(ABCA1):c.2663T>G (p.Met888Arg)
|
|
|
NM_005502.4(ABCA1):c.2848T>C (p.Phe950Leu)
|
|
|
NM_005502.4(ABCA1):c.2855C>T (p.Pro952Leu)
|
|
|
NM_005502.4(ABCA1):c.2861C>T (p.Ser954Leu)
|
|
|
NM_005502.4(ABCA1):c.2869G>A (p.Ala957Thr)
|
|
|
NM_005502.4(ABCA1):c.3055G>A (p.Val1019Ile)
|
|
|
NM_005502.4(ABCA1):c.3202C>G (p.Arg1068Gly)
|
|
|
NM_005502.4(ABCA1):c.3408A>C (p.Glu1136Asp)
|
|
|
NM_005502.4(ABCA1):c.3462+4A>G
|
|
|
NM_005502.4(ABCA1):c.3470G>C (p.Ser1157Thr)
|
|
|
NM_005502.4(ABCA1):c.3545C>T (p.Ala1182Val)
|
|
|
NM_005502.4(ABCA1):c.3605A>G (p.His1202Arg)
|
|
|
NM_005502.4(ABCA1):c.362G>C (p.Ser121Thr)
|
|
|
NM_005502.4(ABCA1):c.3635C>G (p.Ala1212Gly)
|
|
|
NM_005502.4(ABCA1):c.3649G>A (p.Ala1217Thr)
|
|
|
NM_005502.4(ABCA1):c.3679G>A (p.Asp1227Asn)
|
|
|
NM_005502.4(ABCA1):c.3692A>G (p.Asp1231Gly)
|
|
|
NM_005502.4(ABCA1):c.3790G>A (p.Gly1264Ser)
|
|
|
NM_005502.4(ABCA1):c.3892A>T (p.Ile1298Leu)
|
|
|
NM_005502.4(ABCA1):c.3912G>T (p.Glu1304Asp)
|
|
|
NM_005502.4(ABCA1):c.3994C>G (p.Leu1332Val)
|
|
|
NM_005502.4(ABCA1):c.4063G>T (p.Ala1355Ser)
|
|
|
NM_005502.4(ABCA1):c.4121A>C (p.Tyr1374Ser)
|
|
|
NM_005502.4(ABCA1):c.412T>C (p.Ser138Pro)
|
|
|
NM_005502.4(ABCA1):c.4187C>T (p.Pro1396Leu)
|
|
|
NM_005502.4(ABCA1):c.4189G>A (p.Glu1397Lys)
|
|
|
NM_005502.4(ABCA1):c.4381C>T (p.Pro1461Ser)
|
|
|
NM_005502.4(ABCA1):c.4416G>T (p.Lys1472Asn)
|
|
|
NM_005502.4(ABCA1):c.4433C>T (p.Pro1478Leu)
|
|
|
NM_005502.4(ABCA1):c.4438G>A (p.Gly1480Arg)
|
|
|
NM_005502.4(ABCA1):c.4439G>C (p.Gly1480Ala)
|
|
|
NM_005502.4(ABCA1):c.4471C>G (p.Gln1491Glu)
|
|
|
NM_005502.4(ABCA1):c.4665C>G (p.Ile1555Met)
|
|
|
NM_005502.4(ABCA1):c.4675A>C (p.Lys1559Gln)
|
|
|
NM_005502.4(ABCA1):c.4759A>C (p.Lys1587Gln)
|
|
|
NM_005502.4(ABCA1):c.4829A>G (p.Asn1610Ser)
|
|
|
NM_005502.4(ABCA1):c.4975A>G (p.Ile1659Val)
|
|
|
NM_005502.4(ABCA1):c.4991C>T (p.Ala1664Val)
|
|
|
NM_005502.4(ABCA1):c.5464A>G (p.Met1822Val)
|
|
|
NM_005502.4(ABCA1):c.5468T>G (p.Val1823Gly)
|
|
|
NM_005502.4(ABCA1):c.5470A>G (p.Lys1824Glu)
|
|
|
NM_005502.4(ABCA1):c.5475C>A (p.Asn1825Lys)
|
|
|
NM_005502.4(ABCA1):c.5563G>T (p.Ala1855Ser)
|
rs766712712
|
|
NM_005502.4(ABCA1):c.5606T>G (p.Leu1869Arg)
|
|
|
NM_005502.4(ABCA1):c.5761T>C (p.Tyr1921His)
|
|
|
NM_005502.4(ABCA1):c.5800G>A (p.Val1934Met)
|
|
|
NM_005502.4(ABCA1):c.5912T>C (p.Phe1971Ser)
|
|
|
NM_005502.4(ABCA1):c.5987C>A (p.Ala1996Asp)
|
|
|
NM_005502.4(ABCA1):c.6003G>C (p.Leu2001Phe)
|
|
|
NM_005502.4(ABCA1):c.6004A>C (p.Thr2002Pro)
|
|
|
NM_005502.4(ABCA1):c.6077A>G (p.Glu2026Gly)
|
|
|
NM_005502.4(ABCA1):c.6113G>A (p.Gly2038Glu)
|
|
|
NM_005502.4(ABCA1):c.6170T>C (p.Met2057Thr)
|
|
|
NM_005502.4(ABCA1):c.6302C>G (p.Ser2101Cys)
|
|
|
NM_005502.4(ABCA1):c.6379A>G (p.Ser2127Gly)
|
|
|
NM_005502.4(ABCA1):c.6412G>A (p.Gly2138Ser)
|
|
|
NM_005502.4(ABCA1):c.6454C>A (p.Leu2152Met)
|
|
|
NM_005502.4(ABCA1):c.6526C>A (p.Leu2176Ile)
|
|
|
NM_005502.4(ABCA1):c.6591C>A (p.Ser2197Arg)
|
|
|
NM_005502.4(ABCA1):c.6607A>G (p.Ile2203Val)
|
|
|
NM_005502.4(ABCA1):c.6681T>A (p.Asp2227Glu)
|
|
|
NM_005502.4(ABCA1):c.6701C>T (p.Ser2234Leu)
|
|
|
NM_005502.4(ABCA1):c.6731T>C (p.Val2244Ala)
|
|
|
NM_005502.4(ABCA1):c.6743C>A (p.Thr2248Lys)
|
|
|
NM_005502.4(ABCA1):c.6760G>A (p.Glu2254Lys)
|
|
|
NM_005502.4(ABCA1):c.712C>G (p.Pro238Ala)
|
|
|
NM_005502.4(ABCA1):c.877A>G (p.Ser293Gly)
|
|
|
NM_005572.4(LMNA):c.1711_1712delinsTC (p.Arg571Ser)
|
rs794728612
|
|
NM_005633.4(SOS1):c.-1C>T
|
|
|
NM_005633.4(SOS1):c.1069T>G (p.Leu357Val)
|
|
|
NM_005633.4(SOS1):c.1077G>C (p.Gln359His)
|
|
|
NM_005633.4(SOS1):c.116A>T (p.Glu39Val)
|
|
|
NM_005633.4(SOS1):c.1205A>T (p.Glu402Val)
|
|
|
NM_005633.4(SOS1):c.1220T>A (p.Phe407Tyr)
|
|
|
NM_005633.4(SOS1):c.1252G>C (p.Ala418Pro)
|
|
|
NM_005633.4(SOS1):c.1269C>A (p.Asn423Lys)
|
|
|
NM_005633.4(SOS1):c.1269C>G (p.Asn423Lys)
|
rs138459502
|
|
NM_005633.4(SOS1):c.1338G>C (p.Met446Ile)
|
|
|
NM_005633.4(SOS1):c.1357G>A (p.Val453Ile)
|
rs1669848256
|
|
NM_005633.4(SOS1):c.1463A>G (p.Tyr488Cys)
|
|
|
NM_005633.4(SOS1):c.1466G>A (p.Arg489His)
|
rs994463655
|
|
NM_005633.4(SOS1):c.1495G>T (p.Val499Leu)
|
rs1315811250
|
|
NM_005633.4(SOS1):c.1513G>T (p.Asp505Tyr)
|
|
|
NM_005633.4(SOS1):c.1663G>A (p.Asp555Asn)
|
|
|
NM_005633.4(SOS1):c.1666G>A (p.Val556Ile)
|
rs753909912
|
|
NM_005633.4(SOS1):c.1673T>C (p.Met558Thr)
|
|
|
NM_005633.4(SOS1):c.1675C>A (p.Leu559Ile)
|
|
|
NM_005633.4(SOS1):c.1686G>T (p.Glu562Asp)
|
rs199778219
|
|
NM_005633.4(SOS1):c.1691A>G (p.Glu564Gly)
|
|
|
NM_005633.4(SOS1):c.1748A>C (p.Glu583Ala)
|
|
|
NM_005633.4(SOS1):c.1758_1775dup (p.Asn591_Met592insIleIlePheGluGluAsn)
|
|
|
NM_005633.4(SOS1):c.1759A>G (p.Ile587Val)
|
|
|
NM_005633.4(SOS1):c.1768G>C (p.Glu590Gln)
|
rs730881047
|
|
NM_005633.4(SOS1):c.1798A>G (p.Ile600Val)
|
|
|
NM_005633.4(SOS1):c.17T>C (p.Leu6Pro)
|
|
|
NM_005633.4(SOS1):c.1853A>G (p.Tyr618Cys)
|
|
|
NM_005633.4(SOS1):c.1858+5G>T
|
|
|
NM_005633.4(SOS1):c.191C>T (p.Pro64Leu)
|
|
|
NM_005633.4(SOS1):c.1934T>C (p.Ile645Thr)
|
|
|
NM_005633.4(SOS1):c.1987A>G (p.Ile663Val)
|
rs730881024
|
|
NM_005633.4(SOS1):c.1990G>C (p.Glu664Gln)
|
|
|
NM_005633.4(SOS1):c.205G>C (p.Asp69His)
|
|
|
NM_005633.4(SOS1):c.2074G>A (p.Val692Ile)
|
|
|
NM_005633.4(SOS1):c.207T>G (p.Asp69Glu)
|
|
|
NM_005633.4(SOS1):c.2089G>A (p.Val697Ile)
|
|
|
NM_005633.4(SOS1):c.2128C>G (p.Leu710Val)
|
|
|
NM_005633.4(SOS1):c.2153T>C (p.Ile718Thr)
|
|
|
NM_005633.4(SOS1):c.2164A>G (p.Arg722Gly)
|
|
|
NM_005633.4(SOS1):c.216A>G (p.Glu72=)
|
|
|
NM_005633.4(SOS1):c.2245G>C (p.Gly749Arg)
|
|
|
NM_005633.4(SOS1):c.2253T>G (p.Asn751Lys)
|
rs1553354376
|
|
NM_005633.4(SOS1):c.2446A>G (p.Ile816Val)
|
rs2124511484
|
|
NM_005633.4(SOS1):c.2491C>G (p.Leu831Val)
|
rs2124511437
|
|
NM_005633.4(SOS1):c.2494A>T (p.Thr832Ser)
|
|
|
NM_005633.4(SOS1):c.2540A>G (p.Glu847Gly)
|
|
|
NM_005633.4(SOS1):c.2545G>A (p.Val849Ile)
|
|
|
NM_005633.4(SOS1):c.263C>A (p.Ala88Asp)
|
|
|
NM_005633.4(SOS1):c.2655A>T (p.Arg885Ser)
|
rs2124503237
|
|
NM_005633.4(SOS1):c.2674-3T>C
|
|
|
NM_005633.4(SOS1):c.2690A>G (p.Gln897Arg)
|
|
|
NM_005633.4(SOS1):c.269C>T (p.Ala90Val)
|
|
|
NM_005633.4(SOS1):c.26A>T (p.Glu9Val)
|
|
|
NM_005633.4(SOS1):c.2708A>C (p.Glu903Ala)
|
|
|
NM_005633.4(SOS1):c.2836G>C (p.Glu946Gln)
|
rs1558460847
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NM_005633.4(SOS1):c.2860G>C (p.Glu954Gln)
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NM_005633.4(SOS1):c.289A>G (p.Arg97Gly)
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NM_005633.4(SOS1):c.2900T>C (p.Ile967Thr)
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NM_005633.4(SOS1):c.2947G>A (p.Val983Ile)
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NM_005633.4(SOS1):c.3008A>C (p.Lys1003Thr)
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NM_005633.4(SOS1):c.3012A>C (p.Glu1004Asp)
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NM_005633.4(SOS1):c.3017C>T (p.Thr1006Ile)
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NM_005633.4(SOS1):c.3053C>T (p.Pro1018Leu)
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NM_005633.4(SOS1):c.3098A>G (p.Tyr1033Cys)
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NM_005633.4(SOS1):c.3191G>C (p.Ser1064Thr)
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NM_005633.4(SOS1):c.319G>A (p.Val107Ile)
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NM_005633.4(SOS1):c.3215A>C (p.Glu1072Ala)
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NM_005633.4(SOS1):c.323A>G (p.Glu108Gly)
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rs886041923
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NM_005633.4(SOS1):c.3317A>G (p.Asp1106Gly)
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NM_005633.4(SOS1):c.3322G>C (p.Asp1108His)
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rs199856844
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NM_005633.4(SOS1):c.3329C>G (p.Ser1110Trp)
|
rs572955351
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NM_005633.4(SOS1):c.3334C>T (p.Pro1112Ser)
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NM_005633.4(SOS1):c.3382C>T (p.His1128Tyr)
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rs762576997
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NM_005633.4(SOS1):c.3391+3_3391+6del
|
rs756201866
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NM_005633.4(SOS1):c.3472C>T (p.Arg1158Ter)
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NM_005633.4(SOS1):c.3493G>C (p.Glu1165Gln)
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NM_005633.4(SOS1):c.3526T>A (p.Leu1176Met)
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NM_005633.4(SOS1):c.3583C>T (p.Arg1195Ter)
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NM_005633.4(SOS1):c.3601C>T (p.Arg1201Trp)
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rs752395541
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NM_005633.4(SOS1):c.3611T>C (p.Ile1204Thr)
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NM_005633.4(SOS1):c.3692_3694del (p.Leu1231del)
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NM_005633.4(SOS1):c.3709C>T (p.Pro1237Ser)
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rs371408734
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NM_005633.4(SOS1):c.3722A>G (p.Lys1241Arg)
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NM_005633.4(SOS1):c.3730C>T (p.His1244Tyr)
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NM_005633.4(SOS1):c.3731A>T (p.His1244Leu)
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NM_005633.4(SOS1):c.3748C>T (p.Pro1250Ser)
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rs1668548624
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NM_005633.4(SOS1):c.3763C>G (p.Pro1255Ala)
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NM_005633.4(SOS1):c.3773C>G (p.Pro1258Arg)
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NM_005633.4(SOS1):c.3775C>A (p.Pro1259Thr)
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NM_005633.4(SOS1):c.3778C>G (p.Pro1260Ala)
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rs779336305
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NM_005633.4(SOS1):c.3781C>G (p.Pro1261Ala)
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NM_005633.4(SOS1):c.3799C>T (p.His1267Tyr)
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NM_005633.4(SOS1):c.3815A>G (p.His1272Arg)
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NM_005633.4(SOS1):c.3860T>C (p.Ile1287Thr)
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NM_005633.4(SOS1):c.3889A>G (p.Ser1297Gly)
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NM_005633.4(SOS1):c.3928T>A (p.Tyr1310Asn)
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NM_005633.4(SOS1):c.3948C>G (p.His1316Gln)
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NM_005633.4(SOS1):c.3949C>T (p.Pro1317Ser)
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NM_005633.4(SOS1):c.3971C>G (p.Pro1324Arg)
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rs727503434
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NM_005633.4(SOS1):c.3977T>C (p.Leu1326Pro)
|
rs1371048349
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NM_005633.4(SOS1):c.40G>A (p.Glu14Lys)
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NM_005633.4(SOS1):c.454A>T (p.Ile152Leu)
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NM_005633.4(SOS1):c.539T>C (p.Val180Ala)
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NM_005633.4(SOS1):c.548T>C (p.Ile183Thr)
|
rs772569423
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NM_005633.4(SOS1):c.578C>T (p.Pro193Leu)
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NM_005633.4(SOS1):c.5A>T (p.Gln2Leu)
|
rs886056026
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NM_005633.4(SOS1):c.646A>G (p.Ile216Val)
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NM_005633.4(SOS1):c.649A>G (p.Arg217Gly)
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NM_005633.4(SOS1):c.668T>C (p.Ile223Thr)
|
rs397517176
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NM_005633.4(SOS1):c.695C>G (p.Ser232Cys)
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NM_005633.4(SOS1):c.698A>T (p.Asn233Ile)
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NM_005633.4(SOS1):c.70G>C (p.Val24Leu)
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NM_005633.4(SOS1):c.720+1G>A
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NM_005633.4(SOS1):c.746T>C (p.Ile249Thr)
|
rs1324979194
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NM_005633.4(SOS1):c.754A>G (p.Ile252Val)
|
rs1158811958
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NM_005633.4(SOS1):c.772A>C (p.Lys258Gln)
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NM_005633.4(SOS1):c.787A>G (p.Ile263Val)
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NM_005633.4(SOS1):c.800T>C (p.Val267Ala)
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NM_005633.4(SOS1):c.849_852del (p.Phe283fs)
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NM_005633.4(SOS1):c.911G>C (p.Arg304Pro)
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NM_005633.4(SOS1):c.961G>A (p.Ala321Thr)
|
rs1558480612
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NM_005633.4(SOS1):c.975+4T>C
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NM_005751.5(AKAP9):c.10001A>G (p.Gln3334Arg)
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NM_005751.5(AKAP9):c.10006C>T (p.Arg3336Trp)
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NM_005751.5(AKAP9):c.10014del (p.Leu3339fs)
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NM_005751.5(AKAP9):c.10040A>T (p.Glu3347Val)
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NM_005751.5(AKAP9):c.10066C>A (p.His3356Asn)
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NM_005751.5(AKAP9):c.10127C>T (p.Thr3376Ile)
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NM_005751.5(AKAP9):c.1012A>T (p.Ile338Leu)
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NM_005751.5(AKAP9):c.10130G>A (p.Arg3377Gln)
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NM_005751.5(AKAP9):c.10151G>A (p.Arg3384Lys)
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NM_005751.5(AKAP9):c.10198G>A (p.Glu3400Lys)
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NM_005751.5(AKAP9):c.10222C>T (p.Leu3408Phe)
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NM_005751.5(AKAP9):c.10223T>C (p.Leu3408Pro)
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NM_005751.5(AKAP9):c.10229C>A (p.Ser3410Tyr)
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NM_005751.5(AKAP9):c.10231A>C (p.Lys3411Gln)
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NM_005751.5(AKAP9):c.10241A>T (p.Asp3414Val)
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NM_005751.5(AKAP9):c.10250G>A (p.Arg3417His)
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NM_005751.5(AKAP9):c.10272A>T (p.Gln3424His)
|
rs1397831091
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NM_005751.5(AKAP9):c.10280A>G (p.Tyr3427Cys)
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NM_005751.5(AKAP9):c.10294G>T (p.Glu3432Ter)
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NM_005751.5(AKAP9):c.10304G>A (p.Arg3435Gln)
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NM_005751.5(AKAP9):c.10304G>T (p.Arg3435Leu)
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NM_005751.5(AKAP9):c.10327T>C (p.Phe3443Leu)
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NM_005751.5(AKAP9):c.10349G>A (p.Arg3450Gln)
|
rs548234238
|
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NM_005751.5(AKAP9):c.1037T>C (p.Leu346Pro)
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NM_005751.5(AKAP9):c.10435A>G (p.Asn3479Asp)
|
rs982934060
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NM_005751.5(AKAP9):c.10449_10451del (p.Gln3484del)
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NM_005751.5(AKAP9):c.10476A>C (p.Glu3492Asp)
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NM_005751.5(AKAP9):c.1049A>G (p.Asp350Gly)
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NM_005751.5(AKAP9):c.10500A>C (p.Glu3500Asp)
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NM_005751.5(AKAP9):c.10519G>A (p.Gly3507Ser)
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NM_005751.5(AKAP9):c.10573A>G (p.Lys3525Glu)
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NM_005751.5(AKAP9):c.10582G>T (p.Val3528Phe)
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NM_005751.5(AKAP9):c.10616T>C (p.Phe3539Ser)
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NM_005751.5(AKAP9):c.10627G>A (p.Asp3543Asn)
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NM_005751.5(AKAP9):c.10633G>C (p.Glu3545Gln)
|
rs1816925987
|
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NM_005751.5(AKAP9):c.1064C>A (p.Ala355Asp)
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NM_005751.5(AKAP9):c.10680A>G (p.Gln3560=)
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NM_005751.5(AKAP9):c.10687A>G (p.Lys3563Glu)
|
rs1297567039
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NM_005751.5(AKAP9):c.10688A>T (p.Lys3563Ile)
|
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NM_005751.5(AKAP9):c.10691T>C (p.Leu3564Ser)
|
rs1563142906
|
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NM_005751.5(AKAP9):c.10706G>T (p.Gly3569Val)
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NM_005751.5(AKAP9):c.10723G>A (p.Val3575Met)
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NM_005751.5(AKAP9):c.10724T>C (p.Val3575Ala)
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NM_005751.5(AKAP9):c.10748C>T (p.Ser3583Leu)
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NM_005751.5(AKAP9):c.10763T>C (p.Leu3588Pro)
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NM_005751.5(AKAP9):c.10766T>G (p.Leu3589Arg)
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NM_005751.5(AKAP9):c.1081G>T (p.Glu361Ter)
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NM_005751.5(AKAP9):c.10860C>A (p.Ile3620=)
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NM_005751.5(AKAP9):c.10865G>A (p.Trp3622Ter)
|
rs1563145763
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NM_005751.5(AKAP9):c.10890A>C (p.Arg3630Ser)
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NM_005751.5(AKAP9):c.10918G>A (p.Gly3640Ser)
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NM_005751.5(AKAP9):c.10931T>C (p.Ile3644Thr)
|
rs367598698
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NM_005751.5(AKAP9):c.1096A>T (p.Ile366Phe)
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NM_005751.5(AKAP9):c.10994C>A (p.Ser3665Tyr)
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NM_005751.5(AKAP9):c.10G>C (p.Glu4Gln)
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NM_005751.5(AKAP9):c.11005G>C (p.Ala3669Pro)
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NM_005751.5(AKAP9):c.1105A>G (p.Lys369Glu)
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NM_005751.5(AKAP9):c.11061A>C (p.Gln3687His)
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NM_005751.5(AKAP9):c.11074G>A (p.Asp3692Asn)
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NM_005751.5(AKAP9):c.11090C>T (p.Thr3697Ile)
|
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NM_005751.5(AKAP9):c.11126A>G (p.Glu3709Gly)
|
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NM_005751.5(AKAP9):c.11134C>T (p.Arg3712Ter)
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NM_005751.5(AKAP9):c.11157G>T (p.Lys3719Asn)
|
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NM_005751.5(AKAP9):c.11189A>G (p.Gln3730Arg)
|
rs372297197
|
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NM_005751.5(AKAP9):c.11213C>T (p.Ala3738Val)
|
rs1157417207
|
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NM_005751.5(AKAP9):c.11225G>A (p.Arg3742Gln)
|
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NM_005751.5(AKAP9):c.11228T>G (p.Met3743Arg)
|
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NM_005751.5(AKAP9):c.11229G>A (p.Met3743Ile)
|
rs143306820
|
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NM_005751.5(AKAP9):c.11229G>C (p.Met3743Ile)
|
rs143306820
|
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NM_005751.5(AKAP9):c.11230G>C (p.Gly3744Arg)
|
rs200327385
|
|
NM_005751.5(AKAP9):c.11230G>T (p.Gly3744Trp)
|
rs200327385
|
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NM_005751.5(AKAP9):c.11231G>A (p.Gly3744Glu)
|
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|
NM_005751.5(AKAP9):c.11231G>C (p.Gly3744Ala)
|
rs148318643
|
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NM_005751.5(AKAP9):c.11257G>T (p.Glu3753Ter)
|
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|
NM_005751.5(AKAP9):c.11267C>T (p.Thr3756Ile)
|
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NM_005751.5(AKAP9):c.11275C>T (p.Pro3759Ser)
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NM_005751.5(AKAP9):c.11282G>T (p.Gly3761Val)
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NM_005751.5(AKAP9):c.11296C>T (p.Arg3766Trp)
|
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NM_005751.5(AKAP9):c.11311G>A (p.Val3771Ile)
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NM_005751.5(AKAP9):c.11327C>G (p.Ser3776Cys)
|
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|
NM_005751.5(AKAP9):c.11350C>T (p.Arg3784Trp)
|
rs1818400785
|
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NM_005751.5(AKAP9):c.1138C>G (p.Leu380Val)
|
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|
NM_005751.5(AKAP9):c.11398G>A (p.Gly3800Ser)
|
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|
NM_005751.5(AKAP9):c.11417-4T>G
|
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NM_005751.5(AKAP9):c.11428A>C (p.Thr3810Pro)
|
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NM_005751.5(AKAP9):c.11435C>T (p.Ser3812Leu)
|
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|
NM_005751.5(AKAP9):c.1145A>G (p.Asn382Ser)
|
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|
NM_005751.5(AKAP9):c.11467T>C (p.Tyr3823His)
|
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|
NM_005751.5(AKAP9):c.11471G>A (p.Gly3824Glu)
|
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NM_005751.5(AKAP9):c.11471G>T (p.Gly3824Val)
|
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|
NM_005751.5(AKAP9):c.11491T>C (p.Tyr3831His)
|
rs1818679501
|
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NM_005751.5(AKAP9):c.11564C>T (p.Ala3855Val)
|
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|
NM_005751.5(AKAP9):c.11611G>T (p.Asp3871Tyr)
|
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NM_005751.5(AKAP9):c.11618A>G (p.Asp3873Gly)
|
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|
NM_005751.5(AKAP9):c.1165_1166del (p.Gln389fs)
|
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|
NM_005751.5(AKAP9):c.11666G>A (p.Arg3889Gln)
|
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|
NM_005751.5(AKAP9):c.11680C>T (p.Gln3894Ter)
|
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|
NM_005751.5(AKAP9):c.11682G>T (p.Gln3894His)
|
rs769718964
|
|
NM_005751.5(AKAP9):c.11686+4C>T
|
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|
NM_005751.5(AKAP9):c.11687-10TC[2]
|
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|
NM_005751.5(AKAP9):c.1182A>G (p.Ile394Met)
|
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|
NM_005751.5(AKAP9):c.1183A>C (p.Lys395Gln)
|
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|
NM_005751.5(AKAP9):c.1242C>G (p.Phe414Leu)
|
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|
NM_005751.5(AKAP9):c.1253T>G (p.Ile418Arg)
|
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|
NM_005751.5(AKAP9):c.1300C>T (p.Arg434Trp)
|
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|
NM_005751.5(AKAP9):c.1337T>G (p.Val446Gly)
|
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|
NM_005751.5(AKAP9):c.137A>G (p.Lys46Arg)
|
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|
NM_005751.5(AKAP9):c.1387A>G (p.Met463Val)
|
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|
NM_005751.5(AKAP9):c.1394C>T (p.Thr465Ile)
|
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|
NM_005751.5(AKAP9):c.1399C>T (p.His467Tyr)
|
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|
NM_005751.5(AKAP9):c.141_143delinsCGG (p.Asp48Gly)
|
|
|
NM_005751.5(AKAP9):c.1438A>G (p.Asn480Asp)
|
|
|
NM_005751.5(AKAP9):c.143A>G (p.Asp48Gly)
|
|
|
NM_005751.5(AKAP9):c.1442T>C (p.Ile481Thr)
|
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|
NM_005751.5(AKAP9):c.1445C>T (p.Thr482Ile)
|
|
|
NM_005751.5(AKAP9):c.1456G>C (p.Asp486His)
|
rs2130664563
|
|
NM_005751.5(AKAP9):c.1464A>G (p.Ile488Met)
|
|
|
NM_005751.5(AKAP9):c.146T>A (p.Val49Glu)
|
|
|
NM_005751.5(AKAP9):c.1471A>T (p.Met491Leu)
|
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|
NM_005751.5(AKAP9):c.1483A>G (p.Ile495Val)
|
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|
NM_005751.5(AKAP9):c.1534C>T (p.Leu512Phe)
|
|
|
NM_005751.5(AKAP9):c.1549G>C (p.Gly517Arg)
|
|
|
NM_005751.5(AKAP9):c.1580A>G (p.Gln527Arg)
|
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|
NM_005751.5(AKAP9):c.1588C>G (p.Leu530Val)
|
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|
NM_005751.5(AKAP9):c.1637G>A (p.Arg546Lys)
|
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|
NM_005751.5(AKAP9):c.1685A>T (p.His562Leu)
|
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|
NM_005751.5(AKAP9):c.1718C>G (p.Ala573Gly)
|
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|
NM_005751.5(AKAP9):c.1783A>G (p.Asn595Asp)
|
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|
NM_005751.5(AKAP9):c.179C>T (p.Ser60Leu)
|
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|
NM_005751.5(AKAP9):c.17G>A (p.Arg6Lys)
|
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|
NM_005751.5(AKAP9):c.1821G>C (p.Lys607Asn)
|
|
|
NM_005751.5(AKAP9):c.1826C>A (p.Ala609Asp)
|
rs140973676
|
|
NM_005751.5(AKAP9):c.1838G>C (p.Arg613Thr)
|
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|
NM_005751.5(AKAP9):c.1841T>C (p.Met614Thr)
|
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|
NM_005751.5(AKAP9):c.1946G>A (p.Arg649Gln)
|
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|
NM_005751.5(AKAP9):c.1968dup (p.Asp657fs)
|
|
|
NM_005751.5(AKAP9):c.1979G>T (p.Gly660Val)
|
|
|
NM_005751.5(AKAP9):c.2003A>C (p.Asp668Ala)
|
|
|
NM_005751.5(AKAP9):c.2013G>C (p.Gln671His)
|
|
|
NM_005751.5(AKAP9):c.2022G>A (p.Met674Ile)
|
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|
NM_005751.5(AKAP9):c.209C>A (p.Ser70Tyr)
|
|
|
NM_005751.5(AKAP9):c.20A>C (p.Gln7Pro)
|
|
|
NM_005751.5(AKAP9):c.2122T>A (p.Ser708Thr)
|
|
|
NM_005751.5(AKAP9):c.2125C>T (p.Leu709Phe)
|
|
|
NM_005751.5(AKAP9):c.2151G>T (p.Met717Ile)
|
|
|
NM_005751.5(AKAP9):c.215G>C (p.Arg72Thr)
|
|
|
NM_005751.5(AKAP9):c.2161A>G (p.Ile721Val)
|
|
|
NM_005751.5(AKAP9):c.2174A>G (p.Gln725Arg)
|
|
|
NM_005751.5(AKAP9):c.2188A>C (p.Ile730Leu)
|
|
|
NM_005751.5(AKAP9):c.2227C>A (p.Gln743Lys)
|
|
|
NM_005751.5(AKAP9):c.2257_2258del (p.Glu753fs)
|
|
|
NM_005751.5(AKAP9):c.2293G>T (p.Asp765Tyr)
|
|
|
NM_005751.5(AKAP9):c.2294A>G (p.Asp765Gly)
|
|
|
NM_005751.5(AKAP9):c.2316A>T (p.Gln772His)
|
|
|
NM_005751.5(AKAP9):c.2362G>A (p.Glu788Lys)
|
|
|
NM_005751.5(AKAP9):c.2370G>T (p.Met790Ile)
|
|
|
NM_005751.5(AKAP9):c.2377A>G (p.Ile793Val)
|
|
|
NM_005751.5(AKAP9):c.2381A>G (p.His794Arg)
|
|
|
NM_005751.5(AKAP9):c.2389G>T (p.Val797Phe)
|
|
|
NM_005751.5(AKAP9):c.2425A>T (p.Ile809Phe)
|
rs144615758
|
|
NM_005751.5(AKAP9):c.2447_2448del (p.Ser816fs)
|
|
|
NM_005751.5(AKAP9):c.2472A>G (p.Ile824Met)
|
|
|
NM_005751.5(AKAP9):c.2473C>T (p.Leu825Phe)
|
|
|
NM_005751.5(AKAP9):c.2473_2478del (p.Leu825_Ile826del)
|
|
|
NM_005751.5(AKAP9):c.2474T>C (p.Leu825Pro)
|
|
|
NM_005751.5(AKAP9):c.2506T>C (p.Cys836Arg)
|
|
|
NM_005751.5(AKAP9):c.2582A>C (p.Tyr861Ser)
|
|
|
NM_005751.5(AKAP9):c.2636A>G (p.Glu879Gly)
|
|
|
NM_005751.5(AKAP9):c.2642G>C (p.Ser881Thr)
|
|
|
NM_005751.5(AKAP9):c.2657A>C (p.Glu886Ala)
|
|
|
NM_005751.5(AKAP9):c.2666A>G (p.Tyr889Cys)
|
|
|
NM_005751.5(AKAP9):c.2684C>A (p.Ala895Glu)
|
rs1426532950
|
|
NM_005751.5(AKAP9):c.268G>A (p.Gly90Arg)
|
|
|
NM_005751.5(AKAP9):c.2692G>A (p.Glu898Lys)
|
|
|
NM_005751.5(AKAP9):c.2744C>T (p.Ser915Phe)
|
|
|
NM_005751.5(AKAP9):c.2759A>G (p.Asp920Gly)
|
|
|
NM_005751.5(AKAP9):c.2767T>A (p.Phe923Ile)
|
|
|
NM_005751.5(AKAP9):c.2768T>C (p.Phe923Ser)
|
rs1554405166
|
|
NM_005751.5(AKAP9):c.2777A>C (p.Glu926Ala)
|
|
|
NM_005751.5(AKAP9):c.2788A>G (p.Met930Val)
|
|
|
NM_005751.5(AKAP9):c.2810A>G (p.Asp937Gly)
|
|
|
NM_005751.5(AKAP9):c.2815A>G (p.Thr939Ala)
|
|
|
NM_005751.5(AKAP9):c.2836G>C (p.Glu946Gln)
|
|
|
NM_005751.5(AKAP9):c.2839G>T (p.Val947Leu)
|
|
|
NM_005751.5(AKAP9):c.2853G>T (p.Glu951Asp)
|
|
|
NM_005751.5(AKAP9):c.2866T>C (p.Ser956Pro)
|
|
|
NM_005751.5(AKAP9):c.2917A>G (p.Ile973Val)
|
|
|
NM_005751.5(AKAP9):c.292G>A (p.Gly98Ser)
|
|
|
NM_005751.5(AKAP9):c.2947T>G (p.Leu983Val)
|
|
|
NM_005751.5(AKAP9):c.2948T>C (p.Leu983Ser)
|
|
|
NM_005751.5(AKAP9):c.2962G>A (p.Glu988Lys)
|
|
|
NM_005751.5(AKAP9):c.2981G>A (p.Cys994Tyr)
|
|
|
NM_005751.5(AKAP9):c.2997_2999del (p.Ile1001del)
|
|
|
NM_005751.5(AKAP9):c.3026T>C (p.Val1009Ala)
|
|
|
NM_005751.5(AKAP9):c.3041C>T (p.Thr1014Ile)
|
|
|
NM_005751.5(AKAP9):c.306+4_306+7del
|
|
|
NM_005751.5(AKAP9):c.3068T>A (p.Val1023Asp)
|
rs886039202
|
|
NM_005751.5(AKAP9):c.307-4T>C
|
|
|
NM_005751.5(AKAP9):c.307-5T>G
|
|
|
NM_005751.5(AKAP9):c.3071T>G (p.Val1024Gly)
|
|
|
NM_005751.5(AKAP9):c.3094G>A (p.Glu1032Lys)
|
|
|
NM_005751.5(AKAP9):c.3101C>T (p.Ser1034Leu)
|
|
|
NM_005751.5(AKAP9):c.3118A>G (p.Lys1040Glu)
|
rs1265369157
|
|
NM_005751.5(AKAP9):c.3127G>A (p.Gly1043Ser)
|
|
|
NM_005751.5(AKAP9):c.3145A>C (p.Met1049Leu)
|
|
|
NM_005751.5(AKAP9):c.3148G>A (p.Val1050Met)
|
|
|
NM_005751.5(AKAP9):c.3226C>T (p.Pro1076Ser)
|
|
|
NM_005751.5(AKAP9):c.3230C>G (p.Ser1077Cys)
|
|
|
NM_005751.5(AKAP9):c.3255A>C (p.Arg1085Ser)
|
|
|
NM_005751.5(AKAP9):c.325A>G (p.Thr109Ala)
|
|
|
NM_005751.5(AKAP9):c.3275A>C (p.Asn1092Thr)
|
|
|
NM_005751.5(AKAP9):c.3298A>C (p.Asn1100His)
|
|
|
NM_005751.5(AKAP9):c.3311C>T (p.Ser1104Leu)
|
|
|
NM_005751.5(AKAP9):c.3318+4T>C
|
|
|
NM_005751.5(AKAP9):c.3331C>G (p.Leu1111Val)
|
|
|
NM_005751.5(AKAP9):c.3337A>G (p.Met1113Val)
|
|
|
NM_005751.5(AKAP9):c.3380A>T (p.His1127Leu)
|
|
|
NM_005751.5(AKAP9):c.3401A>G (p.Tyr1134Cys)
|
|
|
NM_005751.5(AKAP9):c.3427C>G (p.Leu1143Val)
|
|
|
NM_005751.5(AKAP9):c.343A>G (p.Ser115Gly)
|
|
|
NM_005751.5(AKAP9):c.3449T>G (p.Leu1150Arg)
|
|
|
NM_005751.5(AKAP9):c.3469A>G (p.Lys1157Glu)
|
|
|
NM_005751.5(AKAP9):c.3470A>C (p.Lys1157Thr)
|
|
|
NM_005751.5(AKAP9):c.3538G>A (p.Glu1180Lys)
|
rs1423656714
|
|
NM_005751.5(AKAP9):c.3547C>T (p.Pro1183Ser)
|
|
|
NM_005751.5(AKAP9):c.3553C>A (p.His1185Asn)
|
|
|
NM_005751.5(AKAP9):c.3580G>C (p.Ala1194Pro)
|
|
|
NM_005751.5(AKAP9):c.3619T>C (p.Cys1207Arg)
|
|
|
NM_005751.5(AKAP9):c.3631G>T (p.Gly1211Cys)
|
rs746335356
|
|
NM_005751.5(AKAP9):c.3635A>G (p.Glu1212Gly)
|
|
|
NM_005751.5(AKAP9):c.3643A>G (p.Thr1215Ala)
|
|
|
NM_005751.5(AKAP9):c.3668A>T (p.Asn1223Ile)
|
|
|
NM_005751.5(AKAP9):c.3676G>A (p.Asp1226Asn)
|
|
|
NM_005751.5(AKAP9):c.3727C>G (p.Gln1243Glu)
|
|
|
NM_005751.5(AKAP9):c.3782A>G (p.Asn1261Ser)
|
|
|
NM_005751.5(AKAP9):c.3787G>A (p.Val1263Ile)
|
|
|
NM_005751.5(AKAP9):c.3797A>G (p.Glu1266Gly)
|
|
|
NM_005751.5(AKAP9):c.37G>A (p.Gly13Ser)
|
|
|
NM_005751.5(AKAP9):c.3800A>G (p.Tyr1267Cys)
|
|
|
NM_005751.5(AKAP9):c.3803A>G (p.Asn1268Ser)
|
|
|
NM_005751.5(AKAP9):c.380C>G (p.Thr127Arg)
|
|
|
NM_005751.5(AKAP9):c.3919A>G (p.Ile1307Val)
|
|
|
NM_005751.5(AKAP9):c.391A>G (p.Thr131Ala)
|
|
|
NM_005751.5(AKAP9):c.3934A>G (p.Thr1312Ala)
|
|
|
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.4000A>G (p.Thr1334Ala)
|
|
|
NM_005751.5(AKAP9):c.4007T>A (p.Leu1336His)
|
|
|
NM_005751.5(AKAP9):c.4022A>G (p.Gln1341Arg)
|
|
|
NM_005751.5(AKAP9):c.4031_4034del (p.Glu1344fs)
|
|
|
NM_005751.5(AKAP9):c.4044C>T (p.Ser1348=)
|
|
|
NM_005751.5(AKAP9):c.4046C>T (p.Ser1349Phe)
|
|
|
NM_005751.5(AKAP9):c.406-5T>C
|
|
|
NM_005751.5(AKAP9):c.4064A>C (p.Lys1355Thr)
|
|
|
NM_005751.5(AKAP9):c.4090G>C (p.Glu1364Gln)
|
rs1802542345
|
|
NM_005751.5(AKAP9):c.4137G>T (p.Thr1379=)
|
|
|
NM_005751.5(AKAP9):c.419G>A (p.Gly140Asp)
|
rs1447648184
|
|
NM_005751.5(AKAP9):c.4216G>A (p.Val1406Met)
|
|
|
NM_005751.5(AKAP9):c.4230T>G (p.Ile1410Met)
|
|
|
NM_005751.5(AKAP9):c.4232A>T (p.Asp1411Val)
|
|
|
NM_005751.5(AKAP9):c.4270G>A (p.Glu1424Lys)
|
|
|
NM_005751.5(AKAP9):c.4286T>C (p.Val1429Ala)
|
|
|
NM_005751.5(AKAP9):c.4336A>C (p.Lys1446Gln)
|
|
|
NM_005751.5(AKAP9):c.4339-4T>C
|
|
|
NM_005751.5(AKAP9):c.4351A>G (p.Met1451Val)
|
rs1330827109
|
|
NM_005751.5(AKAP9):c.4360G>A (p.Ala1454Thr)
|
rs760328706
|
|
NM_005751.5(AKAP9):c.4370A>G (p.Gln1457Arg)
|
|
|
NM_005751.5(AKAP9):c.4390A>G (p.Ile1464Val)
|
|
|
NM_005751.5(AKAP9):c.4400G>C (p.Gly1467Ala)
|
|
|
NM_005751.5(AKAP9):c.441A>T (p.Glu147Asp)
|
rs185898118
|
|
NM_005751.5(AKAP9):c.4420T>C (p.Ser1474Pro)
|
|
|
NM_005751.5(AKAP9):c.4423A>C (p.Lys1475Gln)
|
|
|
NM_005751.5(AKAP9):c.442C>G (p.Gln148Glu)
|
|
|
NM_005751.5(AKAP9):c.4465A>G (p.Asn1489Asp)
|
|
|
NM_005751.5(AKAP9):c.4486G>T (p.Asp1496Tyr)
|
rs1443301693
|
|
NM_005751.5(AKAP9):c.4488T>A (p.Asp1496Glu)
|
|
|
NM_005751.5(AKAP9):c.4508T>C (p.Phe1503Ser)
|
|
|
NM_005751.5(AKAP9):c.4534GAA[1] (p.Glu1513del)
|
rs764066037
|
|
NM_005751.5(AKAP9):c.4565G>A (p.Gly1522Glu)
|
|
|
NM_005751.5(AKAP9):c.4577A>C (p.Lys1526Thr)
|
|
|
NM_005751.5(AKAP9):c.4577A>G (p.Lys1526Arg)
|
|
|
NM_005751.5(AKAP9):c.4603C>T (p.Pro1535Ser)
|
|
|
NM_005751.5(AKAP9):c.4604C>G (p.Pro1535Arg)
|
|
|
NM_005751.5(AKAP9):c.4607A>C (p.His1536Pro)
|
|
|
NM_005751.5(AKAP9):c.4607A>G (p.His1536Arg)
|
|
|
NM_005751.5(AKAP9):c.4615C>T (p.Pro1539Ser)
|
rs916216692
|
|
NM_005751.5(AKAP9):c.4626G>C (p.Lys1542Asn)
|
|
|
NM_005751.5(AKAP9):c.4626G>T (p.Lys1542Asn)
|
|
|
NM_005751.5(AKAP9):c.4637del (p.Leu1546fs)
|
|
|
NM_005751.5(AKAP9):c.4642_4643del (p.Ile1548fs)
|
|
|
NM_005751.5(AKAP9):c.4668T>A (p.Asp1556Glu)
|
|
|
NM_005751.5(AKAP9):c.4679T>C (p.Ile1560Thr)
|
|
|
NM_005751.5(AKAP9):c.4685G>A (p.Arg1562Lys)
|
|
|
NM_005751.5(AKAP9):c.4686_4689del (p.Arg1562fs)
|
|
|
NM_005751.5(AKAP9):c.4696C>A (p.His1566Asn)
|
rs886039037
|
|
NM_005751.5(AKAP9):c.4700A>G (p.Asp1567Gly)
|
|
|
NM_005751.5(AKAP9):c.4704G>T (p.Glu1568Asp)
|
|
|
NM_005751.5(AKAP9):c.4707T>G (p.Ile1569Met)
|
rs1207821150
|
|
NM_005751.5(AKAP9):c.4724A>T (p.Asp1575Val)
|
rs145763255
|
|
NM_005751.5(AKAP9):c.4787G>A (p.Arg1596Gln)
|
|
|
NM_005751.5(AKAP9):c.4804C>T (p.Gln1602Ter)
|
|
|
NM_005751.5(AKAP9):c.4805A>G (p.Gln1602Arg)
|
|
|
NM_005751.5(AKAP9):c.480G>A (p.Met160Ile)
|
|
|
NM_005751.5(AKAP9):c.4859G>A (p.Arg1620Gln)
|
|
|
NM_005751.5(AKAP9):c.485G>C (p.Ser162Thr)
|
rs759783541
|
|
NM_005751.5(AKAP9):c.4864G>A (p.Asp1622Asn)
|
|
|
NM_005751.5(AKAP9):c.49-3T>C
|
|
|
NM_005751.5(AKAP9):c.4912G>T (p.Ala1638Ser)
|
|
|
NM_005751.5(AKAP9):c.4913C>T (p.Ala1638Val)
|
|
|
NM_005751.5(AKAP9):c.4925C>T (p.Ser1642Phe)
|
|
|
NM_005751.5(AKAP9):c.4927A>C (p.Ile1643Leu)
|
rs141990258
|
|
NM_005751.5(AKAP9):c.4929A>G (p.Ile1643Met)
|
|
|
NM_005751.5(AKAP9):c.4953G>T (p.Glu1651Asp)
|
|
|
NM_005751.5(AKAP9):c.4959G>T (p.Glu1653Asp)
|
|
|
NM_005751.5(AKAP9):c.4962G>C (p.Arg1654Ser)
|
rs746465984
|
|
NM_005751.5(AKAP9):c.4970T>C (p.Leu1657Ser)
|
|
|
NM_005751.5(AKAP9):c.5058+4G>A
|
|
|
NM_005751.5(AKAP9):c.5078_5080del (p.Gly1693del)
|
rs771190405
|
|
NM_005751.5(AKAP9):c.5099T>A (p.Phe1700Tyr)
|
|
|
NM_005751.5(AKAP9):c.512T>C (p.Ile171Thr)
|
|
|
NM_005751.5(AKAP9):c.5153C>G (p.Ser1718Cys)
|
|
|
NM_005751.5(AKAP9):c.5162+1G>A
|
|
|
NM_005751.5(AKAP9):c.5162+4T>A
|
|
|
NM_005751.5(AKAP9):c.5162+5A>G
|
|
|
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.5293T>A (p.Ser1765Thr)
|
rs1554430832
|
|
NM_005751.5(AKAP9):c.5356G>A (p.Glu1786Lys)
|
rs377560937
|
|
NM_005751.5(AKAP9):c.5359C>T (p.His1787Tyr)
|
|
|
NM_005751.5(AKAP9):c.5422A>C (p.Ile1808Leu)
|
|
|
NM_005751.5(AKAP9):c.5429T>C (p.Met1810Thr)
|
|
|
NM_005751.5(AKAP9):c.5476G>A (p.Val1826Met)
|
rs1554435236
|
|
NM_005751.5(AKAP9):c.5477T>G (p.Val1826Gly)
|
|
|
NM_005751.5(AKAP9):c.547del (p.Val183fs)
|
|
|
NM_005751.5(AKAP9):c.5486G>A (p.Gly1829Asp)
|
|
|
NM_005751.5(AKAP9):c.5528T>C (p.Met1843Thr)
|
rs538621911
|
|
NM_005751.5(AKAP9):c.5568A>T (p.Lys1856Asn)
|
rs886039192
|
|
NM_005751.5(AKAP9):c.5602C>T (p.Leu1868Phe)
|
|
|
NM_005751.5(AKAP9):c.5605G>C (p.Glu1869Gln)
|
|
|
NM_005751.5(AKAP9):c.5612C>G (p.Ala1871Gly)
|
rs748884520
|
|
NM_005751.5(AKAP9):c.5631del (p.Glu1877fs)
|
|
|
NM_005751.5(AKAP9):c.5639G>T (p.Arg1880Leu)
|
|
|
NM_005751.5(AKAP9):c.5653C>G (p.Gln1885Glu)
|
rs1809744474
|
|
NM_005751.5(AKAP9):c.5665G>A (p.Ala1889Thr)
|
|
|
NM_005751.5(AKAP9):c.5690A>G (p.Glu1897Gly)
|
|
|
NM_005751.5(AKAP9):c.5698C>G (p.Arg1900Gly)
|
rs978219635
|
|
NM_005751.5(AKAP9):c.5699G>A (p.Arg1900Gln)
|
|
|
NM_005751.5(AKAP9):c.576+5G>A
|
|
|
NM_005751.5(AKAP9):c.5776G>A (p.Gly1926Ser)
|
|
|
NM_005751.5(AKAP9):c.5803del (p.Glu1935fs)
|
|
|
NM_005751.5(AKAP9):c.5810A>G (p.Gln1937Arg)
|
|
|
NM_005751.5(AKAP9):c.587T>C (p.Phe196Ser)
|
|
|
NM_005751.5(AKAP9):c.5891C>T (p.Ala1964Val)
|
|
|
NM_005751.5(AKAP9):c.5894A>T (p.Glu1965Val)
|
|
|
NM_005751.5(AKAP9):c.5947A>C (p.Met1983Leu)
|
|
|
NM_005751.5(AKAP9):c.5951A>C (p.Lys1984Thr)
|
|
|
NM_005751.5(AKAP9):c.5968G>T (p.Val1990Phe)
|
rs767058162
|
|
NM_005751.5(AKAP9):c.5977+1G>T
|
|
|
NM_005751.5(AKAP9):c.598A>G (p.Ile200Val)
|
|
|
NM_005751.5(AKAP9):c.5991G>T (p.Glu1997Asp)
|
|
|
NM_005751.5(AKAP9):c.6013A>G (p.Lys2005Glu)
|
|
|
NM_005751.5(AKAP9):c.6026A>G (p.Gln2009Arg)
|
|
|
NM_005751.5(AKAP9):c.6047G>A (p.Arg2016His)
|
|
|
NM_005751.5(AKAP9):c.6049G>A (p.Asp2017Asn)
|
|
|
NM_005751.5(AKAP9):c.6088G>C (p.Val2030Leu)
|
|
|
NM_005751.5(AKAP9):c.6095A>C (p.Glu2032Ala)
|
|
|
NM_005751.5(AKAP9):c.6098A>G (p.Gln2033Arg)
|
rs1810599049
|
|
NM_005751.5(AKAP9):c.6121G>A (p.Glu2041Lys)
|
|
|
NM_005751.5(AKAP9):c.6148G>A (p.Asp2050Asn)
|
|
|
NM_005751.5(AKAP9):c.614G>A (p.Gly205Asp)
|
|
|
NM_005751.5(AKAP9):c.6232C>T (p.His2078Tyr)
|
|
|
NM_005751.5(AKAP9):c.6260T>C (p.Ile2087Thr)
|
|
|
NM_005751.5(AKAP9):c.6274C>G (p.Gln2092Glu)
|
|
|
NM_005751.5(AKAP9):c.6289G>C (p.Val2097Leu)
|
|
|
NM_005751.5(AKAP9):c.6298T>A (p.Phe2100Ile)
|
|
|
NM_005751.5(AKAP9):c.6298T>C (p.Phe2100Leu)
|
|
|
NM_005751.5(AKAP9):c.6302A>G (p.Gln2101Arg)
|
rs201545032
|
|
NM_005751.5(AKAP9):c.6307A>T (p.Ile2103Phe)
|
|
|
NM_005751.5(AKAP9):c.6319C>G (p.Gln2107Glu)
|
|
|
NM_005751.5(AKAP9):c.6360A>T (p.Glu2120Asp)
|
|
|
NM_005751.5(AKAP9):c.6364dup (p.Thr2122fs)
|
|
|
NM_005751.5(AKAP9):c.6371A>G (p.Lys2124Arg)
|
|
|
NM_005751.5(AKAP9):c.6394A>G (p.Lys2132Glu)
|
|
|
NM_005751.5(AKAP9):c.6413A>G (p.Asp2138Gly)
|
|
|
NM_005751.5(AKAP9):c.6446_6447del (p.Leu2149fs)
|
|
|
NM_005751.5(AKAP9):c.6455G>A (p.Arg2152Lys)
|
|
|
NM_005751.5(AKAP9):c.6458T>C (p.Val2153Ala)
|
|
|
NM_005751.5(AKAP9):c.6472C>T (p.Gln2158Ter)
|
|
|
NM_005751.5(AKAP9):c.6485T>C (p.Val2162Ala)
|
|
|
NM_005751.5(AKAP9):c.6488G>A (p.Ser2163Asn)
|
|
|
NM_005751.5(AKAP9):c.6517C>T (p.Arg2173Ter)
|
|
|
NM_005751.5(AKAP9):c.6548C>G (p.Pro2183Arg)
|
|
|
NM_005751.5(AKAP9):c.6551A>G (p.Glu2184Gly)
|
|
|
NM_005751.5(AKAP9):c.6557C>G (p.Ser2186Cys)
|
|
|
NM_005751.5(AKAP9):c.6568C>G (p.Gln2190Glu)
|
|
|
NM_005751.5(AKAP9):c.656_660del (p.Arg219fs)
|
rs768274954
|
|
NM_005751.5(AKAP9):c.6578C>A (p.Ala2193Asp)
|
|
|
NM_005751.5(AKAP9):c.6592A>G (p.Ile2198Val)
|
|
|
NM_005751.5(AKAP9):c.6637G>C (p.Glu2213Gln)
|
|
|
NM_005751.5(AKAP9):c.6639A>T (p.Glu2213Asp)
|
|
|
NM_005751.5(AKAP9):c.6652G>A (p.Glu2218Lys)
|
|
|
NM_005751.5(AKAP9):c.6735A>G (p.Gln2245=)
|
|
|
NM_005751.5(AKAP9):c.6742G>C (p.Glu2248Gln)
|
|
|
NM_005751.5(AKAP9):c.6745C>G (p.Gln2249Glu)
|
|
|
NM_005751.5(AKAP9):c.6750A>C (p.Glu2250Asp)
|
|
|
NM_005751.5(AKAP9):c.6766-4C>T
|
rs1584452484
|
|
NM_005751.5(AKAP9):c.6815C>T (p.Ser2272Phe)
|
|
|
NM_005751.5(AKAP9):c.6830A>G (p.His2277Arg)
|
|
|
NM_005751.5(AKAP9):c.6880A>G (p.Ile2294Val)
|
|
|
NM_005751.5(AKAP9):c.6946-3T>C
|
|
|
NM_005751.5(AKAP9):c.6946-5A>G
|
|
|
NM_005751.5(AKAP9):c.7003A>T (p.Met2335Leu)
|
|
|
NM_005751.5(AKAP9):c.7031A>G (p.Asn2344Ser)
|
rs2130860716
|
|
NM_005751.5(AKAP9):c.7074A>C (p.Lys2358Asn)
|
rs150968594
|
|
NM_005751.5(AKAP9):c.7090G>A (p.Ala2364Thr)
|
rs1408184706
|
|
NM_005751.5(AKAP9):c.7094A>G (p.Asn2365Ser)
|
|
|
NM_005751.5(AKAP9):c.7115T>C (p.Met2372Thr)
|
|
|
NM_005751.5(AKAP9):c.7129C>G (p.Leu2377Val)
|
|
|
NM_005751.5(AKAP9):c.7139A>C (p.Glu2380Ala)
|
|
|
NM_005751.5(AKAP9):c.713T>C (p.Leu238Ser)
|
|
|
NM_005751.5(AKAP9):c.7168G>C (p.Val2390Leu)
|
|
|
NM_005751.5(AKAP9):c.7169T>C (p.Val2390Ala)
|
|
|
NM_005751.5(AKAP9):c.7175T>G (p.Ile2392Arg)
|
|
|
NM_005751.5(AKAP9):c.7186C>G (p.Leu2396Val)
|
|
|
NM_005751.5(AKAP9):c.7190C>G (p.Ala2397Gly)
|
rs372568340
|
|
NM_005751.5(AKAP9):c.7217A>T (p.Asn2406Ile)
|
|
|
NM_005751.5(AKAP9):c.7219G>C (p.Glu2407Gln)
|
|
|
NM_005751.5(AKAP9):c.7229C>A (p.Thr2410Asn)
|
|
|
NM_005751.5(AKAP9):c.7243G>A (p.Val2415Ile)
|
rs886038843
|
|
NM_005751.5(AKAP9):c.7256C>A (p.Thr2419Asn)
|
|
|
NM_005751.5(AKAP9):c.7265A>G (p.Lys2422Arg)
|
|
|
NM_005751.5(AKAP9):c.7274A>G (p.Gln2425Arg)
|
|
|
NM_005751.5(AKAP9):c.7291T>C (p.Phe2431Leu)
|
rs1305633544
|
|
NM_005751.5(AKAP9):c.7309C>G (p.Arg2437Gly)
|
|
|
NM_005751.5(AKAP9):c.7340C>G (p.Pro2447Arg)
|
|
|
NM_005751.5(AKAP9):c.740C>G (p.Ala247Gly)
|
|
|
NM_005751.5(AKAP9):c.7427C>T (p.Ser2476Phe)
|
|
|
NM_005751.5(AKAP9):c.7430_7432delinsAA (p.Leu2477fs)
|
rs1554450960
|
|
NM_005751.5(AKAP9):c.7432G>A (p.Glu2478Lys)
|
|
|
NM_005751.5(AKAP9):c.7444T>C (p.Tyr2482His)
|
|
|
NM_005751.5(AKAP9):c.7453T>G (p.Ser2485Ala)
|
|
|
NM_005751.5(AKAP9):c.7486A>G (p.Asn2496Asp)
|
rs886038911
|
|
NM_005751.5(AKAP9):c.7498A>G (p.Arg2500Gly)
|
|
|
NM_005751.5(AKAP9):c.7517G>A (p.Ser2506Asn)
|
|
|
NM_005751.5(AKAP9):c.7519A>G (p.Thr2507Ala)
|
rs2130862031
|
|
NM_005751.5(AKAP9):c.751_752del (p.Leu251fs)
|
|
|
NM_005751.5(AKAP9):c.752_755dup (p.Arg252fs)
|
|
|
NM_005751.5(AKAP9):c.7535A>T (p.Asp2512Val)
|
|
|
NM_005751.5(AKAP9):c.7567A>G (p.Lys2523Glu)
|
|
|
NM_005751.5(AKAP9):c.7573A>C (p.Met2525Leu)
|
|
|
NM_005751.5(AKAP9):c.7582C>G (p.Gln2528Glu)
|
|
|
NM_005751.5(AKAP9):c.7582C>T (p.Gln2528Ter)
|
|
|
NM_005751.5(AKAP9):c.7606C>T (p.Leu2536Phe)
|
rs1554451226
|
|
NM_005751.5(AKAP9):c.7643A>T (p.Glu2548Val)
|
|
|
NM_005751.5(AKAP9):c.7700A>T (p.Tyr2567Phe)
|
|
|
NM_005751.5(AKAP9):c.7702G>A (p.Ala2568Thr)
|
|
|
NM_005751.5(AKAP9):c.7789T>G (p.Leu2597Val)
|
|
|
NM_005751.5(AKAP9):c.7790T>G (p.Leu2597Trp)
|
|
|
NM_005751.5(AKAP9):c.77A>C (p.Gln26Pro)
|
|
|
NM_005751.5(AKAP9):c.781G>A (p.Ala261Thr)
|
|
|
NM_005751.5(AKAP9):c.7821A>T (p.Arg2607Ser)
|
|
|
NM_005751.5(AKAP9):c.7833A>T (p.Leu2611Phe)
|
|
|
NM_005751.5(AKAP9):c.7921AAG[1] (p.Lys2642del)
|
rs786205262
|
|
NM_005751.5(AKAP9):c.795A>C (p.Gln265His)
|
|
|
NM_005751.5(AKAP9):c.7977_7978del (p.Lys2660fs)
|
|
|
NM_005751.5(AKAP9):c.7982A>G (p.Glu2661Gly)
|
|
|
NM_005751.5(AKAP9):c.8056G>A (p.Gly2686Arg)
|
|
|
NM_005751.5(AKAP9):c.8096T>C (p.Val2699Ala)
|
|
|
NM_005751.5(AKAP9):c.80C>G (p.Ser27Trp)
|
|
|
NM_005751.5(AKAP9):c.811C>G (p.Leu271Val)
|
|
|
NM_005751.5(AKAP9):c.8149G>A (p.Glu2717Lys)
|
|
|
NM_005751.5(AKAP9):c.8149G>C (p.Glu2717Gln)
|
|
|
NM_005751.5(AKAP9):c.8152G>A (p.Glu2718Lys)
|
|
|
NM_005751.5(AKAP9):c.8177T>A (p.Met2726Lys)
|
|
|
NM_005751.5(AKAP9):c.8183C>T (p.Ser2728Phe)
|
|
|
NM_005751.5(AKAP9):c.8201G>A (p.Ser2734Asn)
|
|
|
NM_005751.5(AKAP9):c.8206G>A (p.Val2736Ile)
|
|
|
NM_005751.5(AKAP9):c.8218C>T (p.Leu2740Phe)
|
|
|
NM_005751.5(AKAP9):c.8235G>T (p.Glu2745Asp)
|
|
|
NM_005751.5(AKAP9):c.8258A>T (p.Glu2753Val)
|
|
|
NM_005751.5(AKAP9):c.8276A>G (p.Gln2759Arg)
|
|
|
NM_005751.5(AKAP9):c.8336C>T (p.Ala2779Val)
|
rs886038923
|
|
NM_005751.5(AKAP9):c.8344A>G (p.Thr2782Ala)
|
|
|
NM_005751.5(AKAP9):c.8357T>C (p.Leu2786Pro)
|
|
|
NM_005751.5(AKAP9):c.835del (p.Glu279fs)
|
rs2130646435
|
|
NM_005751.5(AKAP9):c.8374A>C (p.Asn2792His)
|
|
|
NM_005751.5(AKAP9):c.8383C>A (p.Pro2795Thr)
|
|
|
NM_005751.5(AKAP9):c.8384C>T (p.Pro2795Leu)
|
|
|
NM_005751.5(AKAP9):c.8398A>G (p.Lys2800Glu)
|
rs1554454272
|
|
NM_005751.5(AKAP9):c.8494C>G (p.Gln2832Glu)
|
|
|
NM_005751.5(AKAP9):c.8503C>T (p.His2835Tyr)
|
|
|
NM_005751.5(AKAP9):c.8506G>A (p.Ala2836Thr)
|
|
|
NM_005751.5(AKAP9):c.8539A>G (p.Ile2847Val)
|
|
|
NM_005751.5(AKAP9):c.8606G>T (p.Gly2869Val)
|
|
|
NM_005751.5(AKAP9):c.8631T>G (p.Cys2877Trp)
|
rs1563113459
|
|
NM_005751.5(AKAP9):c.8660C>G (p.Pro2887Arg)
|
|
|
NM_005751.5(AKAP9):c.8662G>A (p.Glu2888Lys)
|
|
|
NM_005751.5(AKAP9):c.8693G>A (p.Arg2898Lys)
|
|
|
NM_005751.5(AKAP9):c.873AGA[1] (p.Glu292del)
|
rs759956336
|
|
NM_005751.5(AKAP9):c.8762T>C (p.Phe2921Ser)
|
|
|
NM_005751.5(AKAP9):c.8782C>T (p.Arg2928Ter)
|
rs746403215
|
|
NM_005751.5(AKAP9):c.8833-1G>A
|
rs2130875407
|
|
NM_005751.5(AKAP9):c.8890C>T (p.Pro2964Ser)
|
|
|
NM_005751.5(AKAP9):c.8908G>A (p.Asp2970Asn)
|
|
|
NM_005751.5(AKAP9):c.8919T>G (p.Ile2973Met)
|
|
|
NM_005751.5(AKAP9):c.8927T>C (p.Val2976Ala)
|
|
|
NM_005751.5(AKAP9):c.8957C>T (p.Ala2986Val)
|
rs763275190
|
|
NM_005751.5(AKAP9):c.8972T>C (p.Ile2991Thr)
|
|
|
NM_005751.5(AKAP9):c.9019G>T (p.Ala3007Ser)
|
|
|
NM_005751.5(AKAP9):c.9052A>C (p.Ser3018Arg)
|
|
|
NM_005751.5(AKAP9):c.9056T>G (p.Phe3019Cys)
|
|
|
NM_005751.5(AKAP9):c.9058T>C (p.Ser3020Pro)
|
|
|
NM_005751.5(AKAP9):c.905A>G (p.Gln302Arg)
|
|
|
NM_005751.5(AKAP9):c.9082C>T (p.Leu3028Phe)
|
|
|
NM_005751.5(AKAP9):c.9134T>C (p.Phe3045Ser)
|
|
|
NM_005751.5(AKAP9):c.9161C>T (p.Thr3054Ile)
|
|
|
NM_005751.5(AKAP9):c.919G>C (p.Val307Leu)
|
rs989895553
|
|
NM_005751.5(AKAP9):c.9203T>C (p.Ile3068Thr)
|
|
|
NM_005751.5(AKAP9):c.9213+3A>G
|
|
|
NM_005751.5(AKAP9):c.9214G>A (p.Gly3072Ser)
|
|
|
NM_005751.5(AKAP9):c.9251A>G (p.Lys3084Arg)
|
|
|
NM_005751.5(AKAP9):c.9256G>C (p.Asp3086His)
|
|
|
NM_005751.5(AKAP9):c.9259A>G (p.Arg3087Gly)
|
|
|
NM_005751.5(AKAP9):c.9261_9263del (p.Arg3088del)
|
|
|
NM_005751.5(AKAP9):c.9293A>G (p.His3098Arg)
|
|
|
NM_005751.5(AKAP9):c.9308G>T (p.Gly3103Val)
|
|
|
NM_005751.5(AKAP9):c.9376A>G (p.Ile3126Val)
|
rs2130891688
|
|
NM_005751.5(AKAP9):c.9377T>C (p.Ile3126Thr)
|
|
|
NM_005751.5(AKAP9):c.9390G>C (p.Gln3130His)
|
|
|
NM_005751.5(AKAP9):c.93T>G (p.Ser31Arg)
|
|
|
NM_005751.5(AKAP9):c.9416A>G (p.Glu3139Gly)
|
|
|
NM_005751.5(AKAP9):c.9434A>G (p.Asp3145Gly)
|
|
|
NM_005751.5(AKAP9):c.947T>C (p.Val316Ala)
|
|
|
NM_005751.5(AKAP9):c.9481G>T (p.Val3161Phe)
|
|
|
NM_005751.5(AKAP9):c.952A>G (p.Asn318Asp)
|
|
|
NM_005751.5(AKAP9):c.9553C>T (p.His3185Tyr)
|
|
|
NM_005751.5(AKAP9):c.955T>G (p.Ser319Ala)
|
|
|
NM_005751.5(AKAP9):c.9592G>T (p.Asp3198Tyr)
|
|
|
NM_005751.5(AKAP9):c.9593A>G (p.Asp3198Gly)
|
|
|
NM_005751.5(AKAP9):c.961A>G (p.Lys321Glu)
|
|
|
NM_005751.5(AKAP9):c.9698G>T (p.Arg3233Leu)
|
|
|
NM_005751.5(AKAP9):c.9729+4C>T
|
|
|
NM_005751.5(AKAP9):c.9730-3C>T
|
|
|
NM_005751.5(AKAP9):c.9748G>C (p.Glu3250Gln)
|
|
|
NM_005751.5(AKAP9):c.9750G>C (p.Glu3250Asp)
|
rs1304374666
|
|
NM_005751.5(AKAP9):c.9808C>G (p.Leu3270Val)
|
|
|
NM_005751.5(AKAP9):c.9824A>G (p.Gln3275Arg)
|
|
|
NM_005751.5(AKAP9):c.9829A>C (p.Ile3277Leu)
|
|
|
NM_005751.5(AKAP9):c.9830T>G (p.Ile3277Arg)
|
|
|
NM_005751.5(AKAP9):c.9845T>C (p.Met3282Thr)
|
|
|
NM_005751.5(AKAP9):c.9923G>A (p.Arg3308Gln)
|
|
|
NM_005751.5(AKAP9):c.992T>C (p.Ile331Thr)
|
|
|
NM_005751.5(AKAP9):c.9938G>A (p.Ser3313Asn)
|
|
|
NM_005751.5(AKAP9):c.9956A>G (p.Glu3319Gly)
|
|
|
NM_005751.5(AKAP9):c.9959G>A (p.Arg3320Gln)
|
|
|
NM_005751.5(AKAP9):c.995A>G (p.Glu332Gly)
|
|
|
NM_005751.5(AKAP9):c.9967C>T (p.His3323Tyr)
|
|
|
NM_005751.5(AKAP9):c.9985A>G (p.Ser3329Gly)
|
|
|
NM_005902.4(SMAD3):c.1153A>G (p.Arg385Gly)
|
rs886038836
|
|
NM_005902.4(SMAD3):c.1243G>C (p.Gly415Arg)
|
rs886038961
|
|
NM_005902.4(SMAD3):c.269G>A (p.Arg90His)
|
rs886038803
|
|
NM_005902.4(SMAD3):c.764T>G (p.Met255Arg)
|
rs886038899
|
|
NM_005911.6(MAT2A):c.1042A>G (p.Ile348Val)
|
|
|
NM_005911.6(MAT2A):c.1141G>A (p.Gly381Ser)
|
|
|
NM_005911.6(MAT2A):c.1183T>C (p.Tyr395His)
|
|
|
NM_005911.6(MAT2A):c.158A>G (p.Lys53Arg)
|
|
|
NM_005911.6(MAT2A):c.16A>C (p.Asn6His)
|
|
|
NM_005911.6(MAT2A):c.17A>T (p.Asn6Ile)
|
|
|
NM_005911.6(MAT2A):c.28G>C (p.Glu10Gln)
|
|
|
NM_005911.6(MAT2A):c.343C>A (p.Pro115Thr)
|
|
|
NM_005911.6(MAT2A):c.39C>G (p.Ile13Met)
|
|
|
NM_005911.6(MAT2A):c.440A>G (p.Glu147Gly)
|
|
|
NM_005911.6(MAT2A):c.488A>G (p.Lys163Arg)
|
|
|
NM_005911.6(MAT2A):c.581_582insAGTATATGCAGGACTC (p.Leu196fs)
|
|
|
NM_005911.6(MAT2A):c.676G>A (p.Val226Ile)
|
|
|
NM_005911.6(MAT2A):c.754A>T (p.Ile252Phe)
|
|
|
NM_006073.4(TRDN):c.1034T>C (p.Ile345Thr)
|
rs1459890032
|
|
NM_006073.4(TRDN):c.1042G>C (p.Glu348Gln)
|
|
|
NM_006073.4(TRDN):c.1051+1G>A
|
rs535908547
|
|
NM_006073.4(TRDN):c.1051+1G>T
|
rs535908547
|
|
NM_006073.4(TRDN):c.1052-1G>C
|
|
|
NM_006073.4(TRDN):c.1052-5C>G
|
|
|
NM_006073.4(TRDN):c.1055C>A (p.Pro352Gln)
|
rs754708708
|
|
NM_006073.4(TRDN):c.1055C>T (p.Pro352Leu)
|
rs754708708
|
|
NM_006073.4(TRDN):c.1098_1099inv (p.Ala367Ser)
|
|
|
NM_006073.4(TRDN):c.1099G>T (p.Ala367Ser)
|
|
|
NM_006073.4(TRDN):c.1135+1G>A
|
|
|
NM_006073.4(TRDN):c.1136-2_1136-1delinsTA
|
|
|
NM_006073.4(TRDN):c.1141A>G (p.Lys381Glu)
|
|
|
NM_006073.4(TRDN):c.1157C>A (p.Pro386His)
|
|
|
NM_006073.4(TRDN):c.1166-1G>A
|
rs1298986609
|
|
NM_006073.4(TRDN):c.1166-2A>C
|
|
|
NM_006073.4(TRDN):c.116A>T (p.Asp39Val)
|
|
|
NM_006073.4(TRDN):c.1187-2A>G
|
rs578024729
|
|
NM_006073.4(TRDN):c.1197G>T (p.Lys399Asn)
|
|
|
NM_006073.4(TRDN):c.1201G>A (p.Glu401Lys)
|
|
|
NM_006073.4(TRDN):c.1208A>C (p.His403Pro)
|
|
|
NM_006073.4(TRDN):c.120A>G (p.Ile40Met)
|
|
|
NM_006073.4(TRDN):c.1279G>C (p.Glu427Gln)
|
|
|
NM_006073.4(TRDN):c.1282C>G (p.Arg428Gly)
|
rs202219343
|
|
NM_006073.4(TRDN):c.1296G>T (p.Glu432Asp)
|
|
|
NM_006073.4(TRDN):c.1300_1308del (p.Gly434_Val436del)
|
rs765757457
|
|
NM_006073.4(TRDN):c.1304C>A (p.Ala435Glu)
|
rs370712881
|
|
NM_006073.4(TRDN):c.1304C>T (p.Ala435Val)
|
rs370712881
|
|
NM_006073.4(TRDN):c.1321G>A (p.Ala441Thr)
|
|
|
NM_006073.4(TRDN):c.1322-1G>A
|
|
|
NM_006073.4(TRDN):c.1327C>T (p.Pro443Ser)
|
|
|
NM_006073.4(TRDN):c.1334A>G (p.Lys445Arg)
|
|
|
NM_006073.4(TRDN):c.1344G>C (p.Glu448Asp)
|
|
|
NM_006073.4(TRDN):c.1370A>G (p.Glu457Gly)
|
rs1275202498
|
|
NM_006073.4(TRDN):c.1457C>T (p.Ser486Phe)
|
|
|
NM_006073.4(TRDN):c.1472-5C>T
|
rs2114699560
|
|
NM_006073.4(TRDN):c.1474C>T (p.Pro492Ser)
|
|
|
NM_006073.4(TRDN):c.1537C>T (p.Gln513Ter)
|
rs757355311
|
|
NM_006073.4(TRDN):c.1549A>G (p.Lys517Glu)
|
rs2114626106
|
|
NM_006073.4(TRDN):c.1579A>G (p.Lys527Glu)
|
rs1192853066
|
|
NM_006073.4(TRDN):c.157G>C (p.Val53Leu)
|
|
|
NM_006073.4(TRDN):c.1580A>G (p.Lys527Arg)
|
|
|
NM_006073.4(TRDN):c.1584dup (p.Glu529fs)
|
|
|
NM_006073.4(TRDN):c.1594C>G (p.Pro532Ala)
|
|
|
NM_006073.4(TRDN):c.1597+3A>G
|
|
|
NM_006073.4(TRDN):c.1624+1G>A
|
|
|
NM_006073.4(TRDN):c.1624+1G>C
|
rs748011906
|
|
NM_006073.4(TRDN):c.1628A>G (p.Gln543Arg)
|
|
|
NM_006073.4(TRDN):c.1690C>A (p.Gln564Lys)
|
|
|
NM_006073.4(TRDN):c.1690C>T (p.Gln564Ter)
|
|
|
NM_006073.4(TRDN):c.1696A>G (p.Lys566Glu)
|
|
|
NM_006073.4(TRDN):c.1700C>A (p.Ala567Asp)
|
rs545470302
|
|
NM_006073.4(TRDN):c.1729A>G (p.Lys577Glu)
|
rs1554219149
|
|
NM_006073.4(TRDN):c.173T>A (p.Ile58Asn)
|
|
|
NM_006073.4(TRDN):c.1762G>A (p.Glu588Lys)
|
|
|
NM_006073.4(TRDN):c.1762_1763del (p.Glu588fs)
|
|
|
NM_006073.4(TRDN):c.1771T>C (p.Ser591Pro)
|
|
|
NM_006073.4(TRDN):c.1774A>G (p.Ile592Val)
|
|
|
NM_006073.4(TRDN):c.1794del (p.Lys598fs)
|
rs1412913007
|
|
NM_006073.4(TRDN):c.1798A>G (p.Thr600Ala)
|
|
|
NM_006073.4(TRDN):c.1805-6_1805-4delinsTTT
|
|
|
NM_006073.4(TRDN):c.1821del (p.Thr608fs)
|
|
|
NM_006073.4(TRDN):c.1832-4C>T
|
|
|
NM_006073.4(TRDN):c.185C>T (p.Ala62Val)
|
|
|
NM_006073.4(TRDN):c.1882A>G (p.Met628Val)
|
|
|
NM_006073.4(TRDN):c.1888C>T (p.His630Tyr)
|
|
|
NM_006073.4(TRDN):c.1894dup (p.Arg632fs)
|
|
|
NM_006073.4(TRDN):c.1900_1903del (p.Glu634fs)
|
rs750469686
|
|
NM_006073.4(TRDN):c.1907-2A>G
|
|
|
NM_006073.4(TRDN):c.1907-3_1907-2del
|
|
|
NM_006073.4(TRDN):c.1923_1924del (p.Leu643fs)
|
rs781420323
|
|
NM_006073.4(TRDN):c.1963G>T (p.Ala655Ser)
|
|
|
NM_006073.4(TRDN):c.1975+1G>C
|
|
|
NM_006073.4(TRDN):c.1975+4del
|
rs763953757
|
|
NM_006073.4(TRDN):c.1984G>T (p.Glu662Ter)
|
|
|
NM_006073.4(TRDN):c.1996G>C (p.Ala666Pro)
|
rs748450167
|
|
NM_006073.4(TRDN):c.200T>C (p.Met67Thr)
|
|
|
NM_006073.4(TRDN):c.2050+2_2050+16delinsATTATT
|
|
|
NM_006073.4(TRDN):c.209T>C (p.Leu70Ser)
|
|
|
NM_006073.4(TRDN):c.2130C>A (p.Asp710Glu)
|
|
|
NM_006073.4(TRDN):c.2134C>T (p.Pro712Ser)
|
|
|
NM_006073.4(TRDN):c.214G>A (p.Asp72Asn)
|
rs919863113
|
|
NM_006073.4(TRDN):c.214G>T (p.Asp72Tyr)
|
|
|
NM_006073.4(TRDN):c.2150G>A (p.Gly717Asp)
|
|
|
NM_006073.4(TRDN):c.2154A>C (p.Gln718His)
|
|
|
NM_006073.4(TRDN):c.2183G>T (p.Gly728Val)
|
|
|
NM_006073.4(TRDN):c.292G>A (p.Glu98Lys)
|
|
|
NM_006073.4(TRDN):c.306G>T (p.Trp102Cys)
|
|
|
NM_006073.4(TRDN):c.337ATC[1] (p.Ile114del)
|
rs1781228259
|
|
NM_006073.4(TRDN):c.344C>T (p.Ser115Leu)
|
|
|
NM_006073.4(TRDN):c.346T>C (p.Ser116Pro)
|
rs768047321
|
|
NM_006073.4(TRDN):c.355G>A (p.Glu119Lys)
|
|
|
NM_006073.4(TRDN):c.35C>G (p.Thr12Arg)
|
|
|
NM_006073.4(TRDN):c.366T>A (p.Asp122Glu)
|
|
|
NM_006073.4(TRDN):c.386A>T (p.Asp129Val)
|
|
|
NM_006073.4(TRDN):c.392G>C (p.Gly131Ala)
|
|
|
NM_006073.4(TRDN):c.410C>T (p.Pro137Leu)
|
rs1242484153
|
|
NM_006073.4(TRDN):c.427A>C (p.Ile143Leu)
|
|
|
NM_006073.4(TRDN):c.461C>T (p.Pro154Leu)
|
|
|
NM_006073.4(TRDN):c.464A>G (p.Glu155Gly)
|
|
|
NM_006073.4(TRDN):c.478A>T (p.Thr160Ser)
|
|
|
NM_006073.4(TRDN):c.520_550+494del
|
rs1562358749
|
|
NM_006073.4(TRDN):c.52G>A (p.Asp18Asn)
|
|
|
NM_006073.4(TRDN):c.537A>T (p.Lys179Asn)
|
|
|
NM_006073.4(TRDN):c.542A>C (p.Glu181Ala)
|
|
|
NM_006073.4(TRDN):c.551C>A (p.Ala184Glu)
|
|
|
NM_006073.4(TRDN):c.601_610+45delinsG
|
|
|
NM_006073.4(TRDN):c.611A>G (p.Glu204Gly)
|
|
|
NM_006073.4(TRDN):c.65G>T (p.Gly22Val)
|
|
|
NM_006073.4(TRDN):c.68C>G (p.Ser23Cys)
|
|
|
NM_006073.4(TRDN):c.691A>G (p.Lys231Glu)
|
|
|
NM_006073.4(TRDN):c.70G>A (p.Val24Met)
|
|
|
NM_006073.4(TRDN):c.713A>G (p.Lys238Arg)
|
|
|
NM_006073.4(TRDN):c.713AAG[1] (p.Glu239del)
|
|
|
NM_006073.4(TRDN):c.730C>A (p.Pro244Thr)
|
rs2114833034
|
|
NM_006073.4(TRDN):c.731del (p.Pro244fs)
|
rs1440670208
|
|
NM_006073.4(TRDN):c.749A>G (p.Lys250Arg)
|
|
|
NM_006073.4(TRDN):c.772G>C (p.Val258Leu)
|
|
|
NM_006073.4(TRDN):c.772G>T (p.Val258Leu)
|
|
|
NM_006073.4(TRDN):c.77A>G (p.Lys26Arg)
|
|
|
NM_006073.4(TRDN):c.782A>G (p.His261Arg)
|
|
|
NM_006073.4(TRDN):c.793G>T (p.Asp265Tyr)
|
rs1021886509
|
|
NM_006073.4(TRDN):c.80C>T (p.Ser27Phe)
|
rs770488451
|
|
NM_006073.4(TRDN):c.854-2A>T
|
|
|
NM_006073.4(TRDN):c.854G>A (p.Gly285Glu)
|
|
|
NM_006073.4(TRDN):c.865G>A (p.Ala289Thr)
|
|
|
NM_006073.4(TRDN):c.874C>T (p.Pro292Ser)
|
|
|
NM_006073.4(TRDN):c.877C>T (p.Pro293Ser)
|
|
|
NM_006073.4(TRDN):c.881T>A (p.Leu294Ter)
|
|
|
NM_006073.4(TRDN):c.932-1G>C
|
|
|
NM_006073.4(TRDN):c.979A>G (p.Thr327Ala)
|
|
|
NM_006258.4(PRKG1):c.1661C>T (p.Ala554Val)
|
rs748543896
|
|
NM_006393.3(NEBL):c.1775C>A (p.Ala592Glu)
|
rs146275785
|
|
NM_006393.3(NEBL):c.791C>T (p.Ala264Val)
|
rs548922223
|
|
NM_006393.3(NEBL):c.826A>G (p.Met276Val)
|
rs1373986579
|
|
NM_006440.5(TXNRD2):c.-2C>T
|
|
|
NM_006440.5(TXNRD2):c.-5C>A
|
|
|
NM_006440.5(TXNRD2):c.104-3C>T
|
|
|
NM_006440.5(TXNRD2):c.104C>T (p.Ala35Val)
|
|
|
NM_006440.5(TXNRD2):c.1077_1078insCATTG (p.Val360fs)
|
|
|
NM_006440.5(TXNRD2):c.1081G>C (p.Val361Leu)
|
|
|
NM_006440.5(TXNRD2):c.1088G>A (p.Gly363Glu)
|
|
|
NM_006440.5(TXNRD2):c.1124G>T (p.Gly375Val)
|
|
|
NM_006440.5(TXNRD2):c.1142G>A (p.Arg381Gln)
|
rs774909194
|
|
NM_006440.5(TXNRD2):c.1150G>C (p.Gly384Arg)
|
rs192869629
|
|
NM_006440.5(TXNRD2):c.1153G>A (p.Gly385Arg)
|
rs528059873
|
|
NM_006440.5(TXNRD2):c.1180A>G (p.Asn394Asp)
|
|
|
NM_006440.5(TXNRD2):c.1183-5T>C
|
|
|
NM_006440.5(TXNRD2):c.11T>C (p.Met4Thr)
|
rs1429174414
|
|
NM_006440.5(TXNRD2):c.1205C>T (p.Pro402Leu)
|
|
|
NM_006440.5(TXNRD2):c.1250C>T (p.Ala417Val)
|
|
|
NM_006440.5(TXNRD2):c.1253G>A (p.Arg418His)
|
rs1388670551
|
|
NM_006440.5(TXNRD2):c.1256A>C (p.His419Pro)
|
|
|
NM_006440.5(TXNRD2):c.1258G>A (p.Gly420Arg)
|
|
|
NM_006440.5(TXNRD2):c.1262A>G (p.Gln421Arg)
|
|
|
NM_006440.5(TXNRD2):c.127C>G (p.Leu43Val)
|
|
|
NM_006440.5(TXNRD2):c.1350G>T (p.Met450Ile)
|
|
|
NM_006440.5(TXNRD2):c.1370dup (p.Gln458fs)
|
rs758790391
|
|
NM_006440.5(TXNRD2):c.1407C>T (p.Asn469=)
|
rs200063300
|
|
NM_006440.5(TXNRD2):c.1408G>A (p.Ala470Thr)
|
|
|
NM_006440.5(TXNRD2):c.1420A>G (p.Thr474Ala)
|
|
|
NM_006440.5(TXNRD2):c.1431T>A (p.Phe477Leu)
|
|
|
NM_006440.5(TXNRD2):c.1445+5G>C
|
|
|
NM_006440.5(TXNRD2):c.1451G>A (p.Gly484Glu)
|
rs1409074647
|
|
NM_006440.5(TXNRD2):c.1471A>G (p.Met491Val)
|
|
|
NM_006440.5(TXNRD2):c.1478C>T (p.Thr493Ile)
|
|
|
NM_006440.5(TXNRD2):c.1496C>T (p.Thr499Ile)
|
|
|
NM_006440.5(TXNRD2):c.1498T>C (p.Cys500Arg)
|
|
|
NM_006440.5(TXNRD2):c.1553C>T (p.Thr518Met)
|
|
|
NM_006440.5(TXNRD2):c.1573T>C (p.Ter525Gln)
|
|
|
NM_006440.5(TXNRD2):c.172+2del
|
|
|
NM_006440.5(TXNRD2):c.175G>C (p.Ala59Pro)
|
|
|
NM_006440.5(TXNRD2):c.175_177delinsACT (p.Ala59Thr)
|
|
|
NM_006440.5(TXNRD2):c.17T>C (p.Val6Ala)
|
|
|
NM_006440.5(TXNRD2):c.200T>C (p.Val67Ala)
|
|
|
NM_006440.5(TXNRD2):c.20C>G (p.Ala7Gly)
|
|
|
NM_006440.5(TXNRD2):c.20C>T (p.Ala7Val)
|
|
|
NM_006440.5(TXNRD2):c.229+5G>C
|
|
|
NM_006440.5(TXNRD2):c.230-4C>T
|
|
|
NM_006440.5(TXNRD2):c.250G>A (p.Gly84Ser)
|
|
|
NM_006440.5(TXNRD2):c.268G>A (p.Gly90Ser)
|
|
|
NM_006440.5(TXNRD2):c.26G>C (p.Arg9Pro)
|
|
|
NM_006440.5(TXNRD2):c.271T>C (p.Cys91Arg)
|
|
|
NM_006440.5(TXNRD2):c.299C>A (p.Ala100Glu)
|
rs767878935
|
|
NM_006440.5(TXNRD2):c.314G>A (p.Gly105Asp)
|
|
|
NM_006440.5(TXNRD2):c.335A>G (p.Asn112Ser)
|
|
|
NM_006440.5(TXNRD2):c.337T>C (p.Tyr113His)
|
rs869025560
|
|
NM_006440.5(TXNRD2):c.350T>C (p.Val117Ala)
|
rs770727890
|
|
NM_006440.5(TXNRD2):c.35G>A (p.Gly12Glu)
|
|
|
NM_006440.5(TXNRD2):c.364C>G (p.Pro122Ala)
|
|
|
NM_006440.5(TXNRD2):c.365C>T (p.Pro122Leu)
|
|
|
NM_006440.5(TXNRD2):c.373T>C (p.Trp125Arg)
|
|
|
NM_006440.5(TXNRD2):c.375-2A>G
|
|
|
NM_006440.5(TXNRD2):c.37G>A (p.Gly13Arg)
|
|
|
NM_006440.5(TXNRD2):c.391del (p.Ala131fs)
|
|
|
NM_006440.5(TXNRD2):c.392C>G (p.Ala131Gly)
|
rs368359642
|
|
NM_006440.5(TXNRD2):c.41_42delinsTT (p.Arg14Leu)
|
rs2146120283
|
|
NM_006440.5(TXNRD2):c.420C>G (p.Asn140Lys)
|
|
|
NM_006440.5(TXNRD2):c.431G>A (p.Arg144His)
|
rs748674090
|
|
NM_006440.5(TXNRD2):c.431G>T (p.Arg144Leu)
|
|
|
NM_006440.5(TXNRD2):c.449+1G>T
|
|
|
NM_006440.5(TXNRD2):c.490G>A (p.Glu164Lys)
|
|
|
NM_006440.5(TXNRD2):c.512C>T (p.Ala171Val)
|
|
|
NM_006440.5(TXNRD2):c.516del (p.Gly173fs)
|
|
|
NM_006440.5(TXNRD2):c.528+2T>C
|
rs775856560
|
|
NM_006440.5(TXNRD2):c.544G>C (p.Asp182His)
|
|
|
NM_006440.5(TXNRD2):c.55A>G (p.Thr19Ala)
|
|
|
NM_006440.5(TXNRD2):c.560C>T (p.Ala187Val)
|
|
|
NM_006440.5(TXNRD2):c.587C>A (p.Thr196Lys)
|
|
|
NM_006440.5(TXNRD2):c.591+1G>A
|
rs200610775
|
|
NM_006440.5(TXNRD2):c.591+5G>C
|
|
|
NM_006440.5(TXNRD2):c.599G>A (p.Gly200Asp)
|
rs112854076
|
|
NM_006440.5(TXNRD2):c.620C>T (p.Thr207Ile)
|
|
|
NM_006440.5(TXNRD2):c.65T>G (p.Val22Gly)
|
|
|
NM_006440.5(TXNRD2):c.664T>C (p.Leu222=)
|
|
|
NM_006440.5(TXNRD2):c.670G>T (p.Val224Phe)
|
|
|
NM_006440.5(TXNRD2):c.682+5C>G
|
|
|
NM_006440.5(TXNRD2):c.683-2A>C
|
|
|
NM_006440.5(TXNRD2):c.697T>A (p.Cys233Ser)
|
|
|
NM_006440.5(TXNRD2):c.704G>A (p.Gly235Asp)
|
|
|
NM_006440.5(TXNRD2):c.706T>C (p.Phe236Leu)
|
|
|
NM_006440.5(TXNRD2):c.709C>T (p.Leu237Phe)
|
|
|
NM_006440.5(TXNRD2):c.70_76dup (p.Val26fs)
|
|
|
NM_006440.5(TXNRD2):c.739ATG[1] (p.Met248del)
|
|
|
NM_006440.5(TXNRD2):c.73G>T (p.Gly25Trp)
|
|
|
NM_006440.5(TXNRD2):c.748A>G (p.Ser250Gly)
|
|
|
NM_006440.5(TXNRD2):c.751A>C (p.Ile251Leu)
|
|
|
NM_006440.5(TXNRD2):c.754C>A (p.Pro252Thr)
|
|
|
NM_006440.5(TXNRD2):c.763G>A (p.Gly255Ser)
|
rs76079250
|
|
NM_006440.5(TXNRD2):c.769G>A (p.Asp257Asn)
|
|
|
NM_006440.5(TXNRD2):c.77T>C (p.Val26Ala)
|
rs925920723
|
|
NM_006440.5(TXNRD2):c.77_83dup (p.Ala30fs)
|
rs1162449700
|
|
NM_006440.5(TXNRD2):c.799C>G (p.His267Asp)
|
|
|
NM_006440.5(TXNRD2):c.806C>T (p.Ala269Val)
|
|
|
NM_006440.5(TXNRD2):c.812A>G (p.His271Arg)
|
|
|
NM_006440.5(TXNRD2):c.83G>T (p.Gly28Val)
|
|
|
NM_006440.5(TXNRD2):c.87_98del (p.27RGAA[1])
|
rs766448975
|
|
NM_006440.5(TXNRD2):c.87_98dup (p.27RGAA[3])
|
rs766448975
|
|
NM_006440.5(TXNRD2):c.895A>T (p.Ser299Cys)
|
|
|
NM_006440.5(TXNRD2):c.90_101dup (p.27_30RGAA[3])
|
rs1008629337
|
|
NM_006440.5(TXNRD2):c.917C>G (p.Thr306Arg)
|
|
|
NM_006440.5(TXNRD2):c.928G>A (p.Asp310Asn)
|
|
|
NM_006440.5(TXNRD2):c.941G>A (p.Trp314Ter)
|
|
|
NM_006440.5(TXNRD2):c.955G>A (p.Val319Ile)
|
|
|
NM_006440.5(TXNRD2):c.958C>T (p.Pro320Ser)
|
rs1938879786
|
|
NM_006440.5(TXNRD2):c.965C>T (p.Thr322Ile)
|
|
|
NM_006446.5(SLCO1B1):c.496T>C (p.Ser166Pro)
|
|
|
NM_006514.4(SCN10A):c.1027G>T (p.Ala343Ser)
|
|
|
NM_006514.4(SCN10A):c.1033G>T (p.Ala345Ser)
|
|
|
NM_006514.4(SCN10A):c.1039C>G (p.Leu347Val)
|
|
|
NM_006514.4(SCN10A):c.1052G>A (p.Arg351His)
|
rs767987787
|
|
NM_006514.4(SCN10A):c.1052G>T (p.Arg351Leu)
|
|
|
NM_006514.4(SCN10A):c.1066G>A (p.Asp356Asn)
|
|
|
NM_006514.4(SCN10A):c.1096C>A (p.Leu366Met)
|
rs2126028404
|
|
NM_006514.4(SCN10A):c.1120A>G (p.Met374Val)
|
|
|
NM_006514.4(SCN10A):c.1130T>C (p.Phe377Ser)
|
|
|
NM_006514.4(SCN10A):c.115G>A (p.Glu39Lys)
|
|
|
NM_006514.4(SCN10A):c.1165G>A (p.Val389Ile)
|
|
|
NM_006514.4(SCN10A):c.1172T>C (p.Leu391Ser)
|
|
|
NM_006514.4(SCN10A):c.1173G>T (p.Leu391Phe)
|
|
|
NM_006514.4(SCN10A):c.1175_1189del (p.Ile392_Val396del)
|
|
|
NM_006514.4(SCN10A):c.1192A>T (p.Met398Leu)
|
|
|
NM_006514.4(SCN10A):c.11C>G (p.Pro4Arg)
|
|
|
NM_006514.4(SCN10A):c.1205A>C (p.Glu402Ala)
|
|
|
NM_006514.4(SCN10A):c.1212C>A (p.Asn404Lys)
|
|
|
NM_006514.4(SCN10A):c.1231A>G (p.Ile411Val)
|
|
|
NM_006514.4(SCN10A):c.123T>G (p.His41Gln)
|
|
|
NM_006514.4(SCN10A):c.1250A>T (p.Lys417Met)
|
|
|
NM_006514.4(SCN10A):c.1284_1286delinsACG (p.Gln429Arg)
|
|
|
NM_006514.4(SCN10A):c.1288G>A (p.Glu430Lys)
|
|
|
NM_006514.4(SCN10A):c.1291G>T (p.Val431Leu)
|
|
|
NM_006514.4(SCN10A):c.1309A>C (p.Ile437Leu)
|
|
|
NM_006514.4(SCN10A):c.130C>A (p.Gln44Lys)
|
|
|
NM_006514.4(SCN10A):c.1312G>A (p.Asp438Asn)
|
|
|
NM_006514.4(SCN10A):c.1362T>G (p.Asn454Lys)
|
|
|
NM_006514.4(SCN10A):c.1364C>A (p.Ala455Asp)
|
rs1039004616
|
|
NM_006514.4(SCN10A):c.1397T>A (p.Val466Glu)
|
|
|
NM_006514.4(SCN10A):c.1399T>C (p.Ser467Pro)
|
|
|
NM_006514.4(SCN10A):c.139C>T (p.Gln47Ter)
|
|
|
NM_006514.4(SCN10A):c.1402G>A (p.Glu468Lys)
|
|
|
NM_006514.4(SCN10A):c.1405G>A (p.Gly469Ser)
|
|
|
NM_006514.4(SCN10A):c.1419C>A (p.Asp473Glu)
|
|
|
NM_006514.4(SCN10A):c.142G>A (p.Glu48Lys)
|
|
|
NM_006514.4(SCN10A):c.1433G>T (p.Arg478Leu)
|
|
|
NM_006514.4(SCN10A):c.1442C>G (p.Pro481Arg)
|
|
|
NM_006514.4(SCN10A):c.1465T>C (p.Phe489Leu)
|
|
|
NM_006514.4(SCN10A):c.1490G>A (p.Arg497His)
|
|
|
NM_006514.4(SCN10A):c.151C>G (p.Pro51Ala)
|
rs368312678
|
|
NM_006514.4(SCN10A):c.1531G>A (p.Gly511Ser)
|
|
|
NM_006514.4(SCN10A):c.1549C>T (p.Pro517Ser)
|
|
|
NM_006514.4(SCN10A):c.154C>T (p.Arg52Trp)
|
|
|
NM_006514.4(SCN10A):c.155G>A (p.Arg52Gln)
|
|
|
NM_006514.4(SCN10A):c.1570G>A (p.Gly524Arg)
|
|
|
NM_006514.4(SCN10A):c.158C>G (p.Pro53Arg)
|
rs752235456
|
|
NM_006514.4(SCN10A):c.158C>T (p.Pro53Leu)
|
|
|
NM_006514.4(SCN10A):c.1595G>A (p.Ser532Asn)
|
|
|
NM_006514.4(SCN10A):c.1603G>C (p.Gly535Arg)
|
|
|
NM_006514.4(SCN10A):c.1618G>A (p.Gly540Ser)
|
|
|
NM_006514.4(SCN10A):c.1621G>A (p.Gly541Arg)
|
rs1315864029
|
|
NM_006514.4(SCN10A):c.1628del (p.Ala543fs)
|
|
|
NM_006514.4(SCN10A):c.1631G>A (p.Gly544Asp)
|
|
|
NM_006514.4(SCN10A):c.1663C>T (p.Pro555Ser)
|
|
|
NM_006514.4(SCN10A):c.1666C>T (p.Gln556Ter)
|
|
|
NM_006514.4(SCN10A):c.1667A>T (p.Gln556Leu)
|
rs1423285355
|
|
NM_006514.4(SCN10A):c.1708C>A (p.Gln570Lys)
|
|
|
NM_006514.4(SCN10A):c.1712C>A (p.Pro571Gln)
|
|
|
NM_006514.4(SCN10A):c.1723A>G (p.Ser575Gly)
|
|
|
NM_006514.4(SCN10A):c.1733C>A (p.Ala578Asp)
|
|
|
NM_006514.4(SCN10A):c.1737del (p.Gly580fs)
|
|
|
NM_006514.4(SCN10A):c.1755G>A (p.Ser585=)
|
|
|
NM_006514.4(SCN10A):c.1766C>T (p.Ala589Val)
|
|
|
NM_006514.4(SCN10A):c.1773A>T (p.Gln591His)
|
|
|
NM_006514.4(SCN10A):c.1800C>G (p.Tyr600Ter)
|
|
|
NM_006514.4(SCN10A):c.1811C>A (p.Pro604His)
|
|
|
NM_006514.4(SCN10A):c.1817G>C (p.Arg606Pro)
|
rs367548480
|
|
NM_006514.4(SCN10A):c.1819G>A (p.Ala607Thr)
|
rs139355449
|
|
NM_006514.4(SCN10A):c.1819G>T (p.Ala607Ser)
|
rs139355449
|
|
NM_006514.4(SCN10A):c.1820C>A (p.Ala607Asp)
|
|
|
NM_006514.4(SCN10A):c.1867+5G>A
|
|
|
NM_006514.4(SCN10A):c.1898C>T (p.Pro633Leu)
|
|
|
NM_006514.4(SCN10A):c.196T>C (p.Phe66Leu)
|
|
|
NM_006514.4(SCN10A):c.1977T>G (p.Phe659Leu)
|
rs1346592471
|
|
NM_006514.4(SCN10A):c.1981C>T (p.Leu661Phe)
|
|
|
NM_006514.4(SCN10A):c.1988C>T (p.Thr663Met)
|
|
|
NM_006514.4(SCN10A):c.2011_2016del (p.Ile671_Thr672del)
|
|
|
NM_006514.4(SCN10A):c.2023A>C (p.Ile675Leu)
|
|
|
NM_006514.4(SCN10A):c.2029G>C (p.Val677Leu)
|
|
|
NM_006514.4(SCN10A):c.2056C>T (p.His686Tyr)
|
|
|
NM_006514.4(SCN10A):c.2061T>A (p.His687Gln)
|
|
|
NM_006514.4(SCN10A):c.2102del (p.Asn701fs)
|
|
|
NM_006514.4(SCN10A):c.2114C>G (p.Thr705Ser)
|
|
|
NM_006514.4(SCN10A):c.2130T>A (p.Ala710=)
|
rs778052433
|
|
NM_006514.4(SCN10A):c.2134A>G (p.Met712Val)
|
|
|
NM_006514.4(SCN10A):c.2135T>C (p.Met712Thr)
|
|
|
NM_006514.4(SCN10A):c.2162C>T (p.Pro721Leu)
|
|
|
NM_006514.4(SCN10A):c.2166C>G (p.Tyr722Ter)
|
|
|
NM_006514.4(SCN10A):c.221T>C (p.Leu74Pro)
|
|
|
NM_006514.4(SCN10A):c.224T>C (p.Ile75Thr)
|
rs1200209497
|
|
NM_006514.4(SCN10A):c.2280+3A>G
|
|
|
NM_006514.4(SCN10A):c.2280+5T>C
|
|
|
NM_006514.4(SCN10A):c.2284C>A (p.Arg762Ser)
|
rs577819850
|
|
NM_006514.4(SCN10A):c.2284C>T (p.Arg762Cys)
|
|
|
NM_006514.4(SCN10A):c.229G>A (p.Glu77Lys)
|
|
|
NM_006514.4(SCN10A):c.229dup (p.Glu77fs)
|
|
|
NM_006514.4(SCN10A):c.2311C>G (p.Pro771Ala)
|
rs2063486138
|
|
NM_006514.4(SCN10A):c.232C>G (p.Pro78Ala)
|
|
|
NM_006514.4(SCN10A):c.2334G>C (p.Lys778Asn)
|
|
|
NM_006514.4(SCN10A):c.238G>T (p.Glu80Ter)
|
|
|
NM_006514.4(SCN10A):c.2390T>C (p.Ile797Thr)
|
|
|
NM_006514.4(SCN10A):c.2393T>C (p.Val798Ala)
|
|
|
NM_006514.4(SCN10A):c.2408T>G (p.Leu803Arg)
|
|
|
NM_006514.4(SCN10A):c.2440C>T (p.Arg814Cys)
|
|
|
NM_006514.4(SCN10A):c.2442dup (p.Asn815Ter)
|
rs1447743812
|
|
NM_006514.4(SCN10A):c.2445C>A (p.Asn815Lys)
|
|
|
NM_006514.4(SCN10A):c.2447A>G (p.Asn816Ser)
|
|
|
NM_006514.4(SCN10A):c.2476G>T (p.Asp826Tyr)
|
rs199535863
|
|
NM_006514.4(SCN10A):c.2477A>G (p.Asp826Gly)
|
|
|
NM_006514.4(SCN10A):c.2490G>A (p.Trp830Ter)
|
|
|
NM_006514.4(SCN10A):c.2521A>T (p.Ile841Phe)
|
|
|
NM_006514.4(SCN10A):c.2524G>A (p.Val842Ile)
|
|
|
NM_006514.4(SCN10A):c.2531G>A (p.Arg844His)
|
|
|
NM_006514.4(SCN10A):c.2551A>G (p.Ile851Val)
|
|
|
NM_006514.4(SCN10A):c.2572A>G (p.Met858Val)
|
|
|
NM_006514.4(SCN10A):c.2592del (p.Ile865fs)
|
|
|
NM_006514.4(SCN10A):c.2593A>G (p.Ile865Val)
|
rs1553617020
|
|
NM_006514.4(SCN10A):c.2594T>C (p.Ile865Thr)
|
|
|
NM_006514.4(SCN10A):c.260G>A (p.Ser87Asn)
|
|
|
NM_006514.4(SCN10A):c.2622G>C (p.Met874Ile)
|
|
|
NM_006514.4(SCN10A):c.263C>G (p.Thr88Arg)
|
|
|
NM_006514.4(SCN10A):c.2640+5G>C
|
|
|
NM_006514.4(SCN10A):c.2650C>G (p.Leu884Val)
|
|
|
NM_006514.4(SCN10A):c.2656A>G (p.Ile886Val)
|
rs2063465062
|
|
NM_006514.4(SCN10A):c.2677_2678del (p.Phe893fs)
|
rs770504391
|
|
NM_006514.4(SCN10A):c.2687A>G (p.Asp896Gly)
|
|
|
NM_006514.4(SCN10A):c.269G>A (p.Arg90Gln)
|
|
|
NM_006514.4(SCN10A):c.271-2A>G
|
|
|
NM_006514.4(SCN10A):c.2738C>A (p.Ala913Asp)
|
|
|
NM_006514.4(SCN10A):c.2762G>A (p.Gly921Asp)
|
|
|
NM_006514.4(SCN10A):c.2764C>G (p.His922Asp)
|
|
|
NM_006514.4(SCN10A):c.2768G>T (p.Arg923Leu)
|
|
|
NM_006514.4(SCN10A):c.2770A>G (p.Thr924Ala)
|
|
|
NM_006514.4(SCN10A):c.2773A>G (p.Lys925Glu)
|
|
|
NM_006514.4(SCN10A):c.2779G>C (p.Ala927Pro)
|
|
|
NM_006514.4(SCN10A):c.2789G>A (p.Ser930Asn)
|
|
|
NM_006514.4(SCN10A):c.2804C>T (p.Ser935Phe)
|
|
|
NM_006514.4(SCN10A):c.2830G>A (p.Glu944Lys)
|
|
|
NM_006514.4(SCN10A):c.2842G>A (p.Val948Met)
|
rs145694222
|
|
NM_006514.4(SCN10A):c.2854C>T (p.Pro952Ser)
|
|
|
NM_006514.4(SCN10A):c.2863A>T (p.Ser955Cys)
|
rs1674245596
|
|
NM_006514.4(SCN10A):c.2882A>T (p.His961Leu)
|
|
|
NM_006514.4(SCN10A):c.2918G>A (p.Gly973Glu)
|
|
|
NM_006514.4(SCN10A):c.292G>A (p.Gly98Arg)
|
|
|
NM_006514.4(SCN10A):c.2945A>G (p.Asp982Gly)
|
|
|
NM_006514.4(SCN10A):c.2947G>A (p.Glu983Lys)
|
|
|
NM_006514.4(SCN10A):c.2947G>C (p.Glu983Gln)
|
|
|
NM_006514.4(SCN10A):c.3009A>G (p.Glu1003=)
|
|
|
NM_006514.4(SCN10A):c.3038G>A (p.Gly1013Asp)
|
rs1228092020
|
|
NM_006514.4(SCN10A):c.303T>G (p.Ile101Met)
|
|
|
NM_006514.4(SCN10A):c.3041G>A (p.Gly1014Glu)
|
|
|
NM_006514.4(SCN10A):c.3056G>A (p.Ser1019Asn)
|
|
|
NM_006514.4(SCN10A):c.305C>G (p.Ser102Cys)
|
rs866597161
|
|
NM_006514.4(SCN10A):c.3062A>G (p.Gln1021Arg)
|
|
|
NM_006514.4(SCN10A):c.3067G>A (p.Glu1023Lys)
|
|
|
NM_006514.4(SCN10A):c.3091G>A (p.Glu1031Lys)
|
|
|
NM_006514.4(SCN10A):c.3094C>T (p.Gln1032Ter)
|
|
|
NM_006514.4(SCN10A):c.3095del (p.Gln1032fs)
|
|
|
NM_006514.4(SCN10A):c.3109G>A (p.Glu1037Lys)
|
|
|
NM_006514.4(SCN10A):c.3118_3130delinsCCAGGCACTGGAACATCTTCTGAG (p.Gly1040fs)
|
rs2126000030
|
|
NM_006514.4(SCN10A):c.3130_3131insG (p.Thr1044fs)
|
|
|
NM_006514.4(SCN10A):c.3134C>T (p.Pro1045Leu)
|
|
|
NM_006514.4(SCN10A):c.3139A>G (p.Ser1047Gly)
|
|
|
NM_006514.4(SCN10A):c.3214C>G (p.Gln1072Glu)
|
|
|
NM_006514.4(SCN10A):c.3220C>T (p.Pro1074Ser)
|
|
|
NM_006514.4(SCN10A):c.3226G>C (p.Glu1076Gln)
|
|
|
NM_006514.4(SCN10A):c.3229-5T>C
|
|
|
NM_006514.4(SCN10A):c.3233T>C (p.Val1078Ala)
|
|
|
NM_006514.4(SCN10A):c.323G>T (p.Arg108Leu)
|
|
|
NM_006514.4(SCN10A):c.32A>G (p.Asn11Ser)
|
|
|
NM_006514.4(SCN10A):c.3335A>T (p.Asp1112Val)
|
|
|
NM_006514.4(SCN10A):c.334C>G (p.Leu112Val)
|
|
|
NM_006514.4(SCN10A):c.3356G>C (p.Cys1119Ser)
|
|
|
NM_006514.4(SCN10A):c.3362G>A (p.Arg1121His)
|
|
|
NM_006514.4(SCN10A):c.3371C>T (p.Pro1124Leu)
|
|
|
NM_006514.4(SCN10A):c.3388A>G (p.Thr1130Ala)
|
|
|
NM_006514.4(SCN10A):c.3389CCA[1] (p.Thr1131del)
|
|
|
NM_006514.4(SCN10A):c.3405G>A (p.Trp1135Ter)
|
|
|
NM_006514.4(SCN10A):c.3410T>A (p.Val1137Glu)
|
|
|
NM_006514.4(SCN10A):c.3420G>T (p.Gln1140His)
|
|
|
NM_006514.4(SCN10A):c.3422T>G (p.Val1141Gly)
|
|
|
NM_006514.4(SCN10A):c.3424C>T (p.Arg1142Cys)
|
|
|
NM_006514.4(SCN10A):c.344C>T (p.Pro115Leu)
|
rs760579685
|
|
NM_006514.4(SCN10A):c.3488T>C (p.Leu1163Pro)
|
|
|
NM_006514.4(SCN10A):c.3493A>G (p.Ser1165Gly)
|
|
|
NM_006514.4(SCN10A):c.352C>G (p.Leu118Val)
|
|
|
NM_006514.4(SCN10A):c.3541A>G (p.Thr1181Ala)
|
|
|
NM_006514.4(SCN10A):c.3574G>C (p.Val1192Leu)
|
|
|
NM_006514.4(SCN10A):c.3576C>A (p.Val1192=)
|
|
|
NM_006514.4(SCN10A):c.3632A>G (p.Lys1211Arg)
|
|
|
NM_006514.4(SCN10A):c.3644C>T (p.Thr1215Ile)
|
|
|
NM_006514.4(SCN10A):c.3673A>C (p.Ile1225Leu)
|
|
|
NM_006514.4(SCN10A):c.3682-3C>T
|
|
|
NM_006514.4(SCN10A):c.3691A>G (p.Ile1231Val)
|
rs775185585
|
|
NM_006514.4(SCN10A):c.3696T>A (p.Ser1232Arg)
|
|
|
NM_006514.4(SCN10A):c.3703G>A (p.Ala1235Thr)
|
|
|
NM_006514.4(SCN10A):c.3703G>T (p.Ala1235Ser)
|
|
|
NM_006514.4(SCN10A):c.3704C>A (p.Ala1235Glu)
|
rs765984332
|
|
NM_006514.4(SCN10A):c.3754C>T (p.Leu1252Phe)
|
|
|
NM_006514.4(SCN10A):c.3757C>A (p.Arg1253Ser)
|
|
|
NM_006514.4(SCN10A):c.3757C>T (p.Arg1253Cys)
|
rs145909172
|
|
NM_006514.4(SCN10A):c.375A>C (p.Lys125Asn)
|
|
|
NM_006514.4(SCN10A):c.3761C>G (p.Ala1254Gly)
|
|
|
NM_006514.4(SCN10A):c.3775C>T (p.Arg1259Trp)
|
rs765230695
|
|
NM_006514.4(SCN10A):c.3781_3782del (p.Leu1261fs)
|
|
|
NM_006514.4(SCN10A):c.3785C>T (p.Ser1262Phe)
|
|
|
NM_006514.4(SCN10A):c.3788G>A (p.Arg1263Gln)
|
|
|
NM_006514.4(SCN10A):c.3788G>T (p.Arg1263Leu)
|
|
|
NM_006514.4(SCN10A):c.3791T>C (p.Phe1264Ser)
|
|
|
NM_006514.4(SCN10A):c.3799A>T (p.Met1267Leu)
|
|
|
NM_006514.4(SCN10A):c.3800T>G (p.Met1267Arg)
|
rs774337248
|
|
NM_006514.4(SCN10A):c.3804+2T>C
|
|
|
NM_006514.4(SCN10A):c.3805-2A>G
|
|
|
NM_006514.4(SCN10A):c.3805-6C>T
|
|
|
NM_006514.4(SCN10A):c.3811G>A (p.Val1271Met)
|
|
|
NM_006514.4(SCN10A):c.3814G>A (p.Asp1272Asn)
|
|
|
NM_006514.4(SCN10A):c.3824T>C (p.Val1275Ala)
|
|
|
NM_006514.4(SCN10A):c.3844A>G (p.Met1282Val)
|
|
|
NM_006514.4(SCN10A):c.3844A>T (p.Met1282Leu)
|
rs1006794198
|
|
NM_006514.4(SCN10A):c.3864C>G (p.Cys1288Trp)
|
|
|
NM_006514.4(SCN10A):c.3884T>C (p.Phe1295Ser)
|
|
|
NM_006514.4(SCN10A):c.3895G>A (p.Gly1299Ser)
|
|
|
NM_006514.4(SCN10A):c.3896G>T (p.Gly1299Val)
|
rs2125989927
|
|
NM_006514.4(SCN10A):c.38T>A (p.Phe13Tyr)
|
|
|
NM_006514.4(SCN10A):c.3910G>T (p.Ala1304Ser)
|
|
|
NM_006514.4(SCN10A):c.3958C>T (p.Leu1320Phe)
|
rs373466551
|
|
NM_006514.4(SCN10A):c.3961_3966del (p.Val1321_Pro1322del)
|
|
|
NM_006514.4(SCN10A):c.3964C>T (p.Pro1322Ser)
|
|
|
NM_006514.4(SCN10A):c.400T>G (p.Leu134Val)
|
|
|
NM_006514.4(SCN10A):c.4030G>A (p.Val1344Ile)
|
rs752648254
|
|
NM_006514.4(SCN10A):c.4034A>G (p.Asn1345Ser)
|
|
|
NM_006514.4(SCN10A):c.4076C>T (p.Ala1359Val)
|
|
|
NM_006514.4(SCN10A):c.4089+3G>A
|
|
|
NM_006514.4(SCN10A):c.4093A>G (p.Thr1365Ala)
|
rs1350489552
|
|
NM_006514.4(SCN10A):c.4094C>A (p.Thr1365Asn)
|
rs748854017
|
|
NM_006514.4(SCN10A):c.4100_4101del (p.Lys1367fs)
|
rs1369457221
|
|
NM_006514.4(SCN10A):c.4110G>A (p.Met1370Ile)
|
|
|
NM_006514.4(SCN10A):c.4124C>T (p.Ala1375Val)
|
|
|
NM_006514.4(SCN10A):c.4127C>T (p.Ala1376Val)
|
|
|
NM_006514.4(SCN10A):c.4144-3C>A
|
|
|
NM_006514.4(SCN10A):c.4151T>C (p.Met1384Thr)
|
|
|
NM_006514.4(SCN10A):c.4182G>A (p.Met1394Ile)
|
|
|
NM_006514.4(SCN10A):c.4217G>C (p.Gly1406Ala)
|
|
|
NM_006514.4(SCN10A):c.4229T>C (p.Leu1410Pro)
|
|
|
NM_006514.4(SCN10A):c.4247T>G (p.Val1416Gly)
|
|
|
NM_006514.4(SCN10A):c.4273A>G (p.Lys1425Glu)
|
|
|
NM_006514.4(SCN10A):c.4281+1A>G
|
|
|
NM_006514.4(SCN10A):c.4300_4306del (p.Phe1434fs)
|
|
|
NM_006514.4(SCN10A):c.4303A>C (p.Met1435Leu)
|
|
|
NM_006514.4(SCN10A):c.4312G>A (p.Glu1438Lys)
|
|
|
NM_006514.4(SCN10A):c.4349G>A (p.Gly1450Asp)
|
|
|
NM_006514.4(SCN10A):c.4359G>T (p.Lys1453Asn)
|
|
|
NM_006514.4(SCN10A):c.4376C>A (p.Pro1459Gln)
|
|
|
NM_006514.4(SCN10A):c.4386+4A>T
|
|
|
NM_006514.4(SCN10A):c.4386G>A (p.Leu1462=)
|
rs1306366227
|
|
NM_006514.4(SCN10A):c.4389C>A (p.Asn1463Lys)
|
|
|
NM_006514.4(SCN10A):c.4415T>C (p.Ile1472Thr)
|
rs1286314604
|
|
NM_006514.4(SCN10A):c.4450G>A (p.Val1484Ile)
|
|
|
NM_006514.4(SCN10A):c.4450G>T (p.Val1484Phe)
|
|
|
NM_006514.4(SCN10A):c.4472T>G (p.Ile1491Ser)
|
|
|
NM_006514.4(SCN10A):c.4477A>G (p.Met1493Val)
|
|
|
NM_006514.4(SCN10A):c.4486G>A (p.Glu1496Lys)
|
|
|
NM_006514.4(SCN10A):c.44G>A (p.Arg15His)
|
|
|
NM_006514.4(SCN10A):c.44G>C (p.Arg15Pro)
|
|
|
NM_006514.4(SCN10A):c.4512G>C (p.Lys1504Asn)
|
|
|
NM_006514.4(SCN10A):c.4513A>G (p.Thr1505Ala)
|
|
|
NM_006514.4(SCN10A):c.4540T>G (p.Phe1514Val)
|
|
|
NM_006514.4(SCN10A):c.4583T>C (p.Phe1528Ser)
|
|
|
NM_006514.4(SCN10A):c.4586C>G (p.Ala1529Gly)
|
|
|
NM_006514.4(SCN10A):c.4602C>A (p.Tyr1534Ter)
|
|
|
NM_006514.4(SCN10A):c.4612G>A (p.Gly1538Ser)
|
|
|
NM_006514.4(SCN10A):c.4709C>A (p.Thr1570Lys)
|
rs772484960
|
|
NM_006514.4(SCN10A):c.4716C>G (p.Phe1572Leu)
|
|
|
NM_006514.4(SCN10A):c.4720G>T (p.Val1574Phe)
|
|
|
NM_006514.4(SCN10A):c.4735C>T (p.Arg1579Ter)
|
|
|
NM_006514.4(SCN10A):c.474T>G (p.Tyr158Ter)
|
|
|
NM_006514.4(SCN10A):c.4766C>A (p.Ala1589Glu)
|
rs753004431
|
|
NM_006514.4(SCN10A):c.4775_4776dup (p.Ile1593fs)
|
rs1191414961
|
|
NM_006514.4(SCN10A):c.47T>C (p.Phe16Ser)
|
|
|
NM_006514.4(SCN10A):c.4810del (p.Leu1604fs)
|
|
|
NM_006514.4(SCN10A):c.4828A>G (p.Ile1610Val)
|
|
|
NM_006514.4(SCN10A):c.4845C>G (p.Phe1615Leu)
|
|
|
NM_006514.4(SCN10A):c.485T>C (p.Val162Ala)
|
|
|
NM_006514.4(SCN10A):c.4884C>A (p.Ser1628Arg)
|
|
|
NM_006514.4(SCN10A):c.4918G>A (p.Asp1640Asn)
|
|
|
NM_006514.4(SCN10A):c.4921A>G (p.Met1641Val)
|
|
|
NM_006514.4(SCN10A):c.4932C>G (p.Phe1644Leu)
|
rs2063118583
|
|
NM_006514.4(SCN10A):c.4937C>A (p.Thr1646Asn)
|
rs2063118515
|
|
NM_006514.4(SCN10A):c.4941C>T (p.Phe1647=)
|
|
|
NM_006514.4(SCN10A):c.4942G>A (p.Ala1648Thr)
|
|
|
NM_006514.4(SCN10A):c.4943C>T (p.Ala1648Val)
|
|
|
NM_006514.4(SCN10A):c.494C>A (p.Thr165Asn)
|
|
|
NM_006514.4(SCN10A):c.495C>T (p.Thr165=)
|
|
|
NM_006514.4(SCN10A):c.5005C>G (p.Pro1669Ala)
|
|
|
NM_006514.4(SCN10A):c.5024C>G (p.Pro1675Arg)
|
|
|
NM_006514.4(SCN10A):c.5030A>T (p.Tyr1677Phe)
|
|
|
NM_006514.4(SCN10A):c.5038C>T (p.Pro1680Ser)
|
|
|
NM_006514.4(SCN10A):c.503C>G (p.Ala168Gly)
|
|
|
NM_006514.4(SCN10A):c.503C>T (p.Ala168Val)
|
rs558639346
|
|
NM_006514.4(SCN10A):c.5052C>G (p.Asn1684Lys)
|
|
|
NM_006514.4(SCN10A):c.506T>C (p.Leu169Ser)
|
|
|
NM_006514.4(SCN10A):c.5090T>C (p.Val1697Ala)
|
|
|
NM_006514.4(SCN10A):c.5108_5109insAACCTACATCATCATCTCCAC (p.Ser1709_Phe1710insThrThrTyrIleIleIleSer)
|
|
|
NM_006514.4(SCN10A):c.5119A>T (p.Ile1707Phe)
|
|
|
NM_006514.4(SCN10A):c.5125T>C (p.Ser1709Pro)
|
|
|
NM_006514.4(SCN10A):c.5131C>T (p.Leu1711Phe)
|
rs2063114690
|
|
NM_006514.4(SCN10A):c.5149T>C (p.Tyr1717His)
|
|
|
NM_006514.4(SCN10A):c.5153T>C (p.Ile1718Thr)
|
|
|
NM_006514.4(SCN10A):c.5204C>T (p.Pro1735Leu)
|
|
|
NM_006514.4(SCN10A):c.5216A>T (p.Asp1739Val)
|
|
|
NM_006514.4(SCN10A):c.5239A>G (p.Thr1747Ala)
|
|
|
NM_006514.4(SCN10A):c.524G>A (p.Arg175Lys)
|
|
|
NM_006514.4(SCN10A):c.5254G>A (p.Asp1752Asn)
|
|
|
NM_006514.4(SCN10A):c.5257C>T (p.Pro1753Ser)
|
|
|
NM_006514.4(SCN10A):c.527G>A (p.Gly176Glu)
|
|
|
NM_006514.4(SCN10A):c.5281T>A (p.Phe1761Ile)
|
|
|
NM_006514.4(SCN10A):c.5284T>C (p.Ser1762Pro)
|
|
|
NM_006514.4(SCN10A):c.5290C>T (p.Leu1764Phe)
|
|
|
NM_006514.4(SCN10A):c.5329del (p.Ile1777fs)
|
|
|
NM_006514.4(SCN10A):c.5332C>T (p.Pro1778Ser)
|
|
|
NM_006514.4(SCN10A):c.5337del (p.Lys1779fs)
|
|
|
NM_006514.4(SCN10A):c.5387A>G (p.Asp1796Gly)
|
|
|
NM_006514.4(SCN10A):c.53C>G (p.Pro18Arg)
|
|
|
NM_006514.4(SCN10A):c.5417C>T (p.Ala1806Val)
|
|
|
NM_006514.4(SCN10A):c.541G>A (p.Glu181Lys)
|
|
|
NM_006514.4(SCN10A):c.542A>G (p.Glu181Gly)
|
|
|
NM_006514.4(SCN10A):c.5437G>A (p.Gly1813Arg)
|
|
|
NM_006514.4(SCN10A):c.5475G>A (p.Met1825Ile)
|
|
|
NM_006514.4(SCN10A):c.5480A>T (p.Glu1827Val)
|
|
|
NM_006514.4(SCN10A):c.548C>T (p.Thr183Met)
|
|
|
NM_006514.4(SCN10A):c.5509T>C (p.Ser1837Pro)
|
|
|
NM_006514.4(SCN10A):c.5520A>C (p.Glu1840Asp)
|
|
|
NM_006514.4(SCN10A):c.5548C>G (p.Gln1850Glu)
|
rs149504103
|
|
NM_006514.4(SCN10A):c.5554G>C (p.Asp1852His)
|
|
|
NM_006514.4(SCN10A):c.5560T>C (p.Ser1854Pro)
|
|
|
NM_006514.4(SCN10A):c.5563G>C (p.Ala1855Pro)
|
|
|
NM_006514.4(SCN10A):c.5581G>T (p.Ala1861Ser)
|
|
|
NM_006514.4(SCN10A):c.558A>C (p.Arg186Ser)
|
|
|
NM_006514.4(SCN10A):c.5594A>C (p.Tyr1865Ser)
|
|
|
NM_006514.4(SCN10A):c.5594A>G (p.Tyr1865Cys)
|
rs377518708
|
|
NM_006514.4(SCN10A):c.5611A>G (p.Met1871Val)
|
|
|
NM_006514.4(SCN10A):c.562C>T (p.Pro188Ser)
|
|
|
NM_006514.4(SCN10A):c.5671G>T (p.Asp1891Tyr)
|
rs2063103684
|
|
NM_006514.4(SCN10A):c.5683G>T (p.Val1895Phe)
|
|
|
NM_006514.4(SCN10A):c.5711T>C (p.Val1904Ala)
|
|
|
NM_006514.4(SCN10A):c.5732C>G (p.Thr1911Ser)
|
|
|
NM_006514.4(SCN10A):c.5774C>T (p.Thr1925Ile)
|
|
|
NM_006514.4(SCN10A):c.5779G>A (p.Gly1927Ser)
|
|
|
NM_006514.4(SCN10A):c.5804G>A (p.Arg1935Lys)
|
|
|
NM_006514.4(SCN10A):c.5809T>C (p.Ser1937Pro)
|
|
|
NM_006514.4(SCN10A):c.5858C>G (p.Ala1953Gly)
|
|
|
NM_006514.4(SCN10A):c.5858C>T (p.Ala1953Val)
|
rs770070419
|
|
NM_006514.4(SCN10A):c.602A>G (p.Tyr201Cys)
|
|
|
NM_006514.4(SCN10A):c.625C>T (p.Arg209Cys)
|
|
|
NM_006514.4(SCN10A):c.629G>T (p.Gly210Val)
|
|
|
NM_006514.4(SCN10A):c.656T>C (p.Val219Ala)
|
|
|
NM_006514.4(SCN10A):c.670A>G (p.Lys224Glu)
|
|
|
NM_006514.4(SCN10A):c.688C>T (p.Pro230Ser)
|
|
|
NM_006514.4(SCN10A):c.697A>G (p.Lys233Glu)
|
|
|
NM_006514.4(SCN10A):c.70A>T (p.Ile24Leu)
|
|
|
NM_006514.4(SCN10A):c.73G>A (p.Glu25Lys)
|
|
|
NM_006514.4(SCN10A):c.761T>C (p.Ile254Thr)
|
|
|
NM_006514.4(SCN10A):c.767G>C (p.Cys256Ser)
|
|
|
NM_006514.4(SCN10A):c.793C>A (p.Leu265Met)
|
|
|
NM_006514.4(SCN10A):c.795_807delinsCTTCAA (p.Gln266fs)
|
|
|
NM_006514.4(SCN10A):c.807_818del (p.Gly270_Lys273del)
|
|
|
NM_006514.4(SCN10A):c.842T>G (p.Met281Arg)
|
|
|
NM_006514.4(SCN10A):c.857C>G (p.Thr286Arg)
|
|
|
NM_006514.4(SCN10A):c.860C>G (p.Thr287Ser)
|
rs779570073
|
|
NM_006514.4(SCN10A):c.869C>T (p.Ser290Leu)
|
|
|
NM_006514.4(SCN10A):c.883+5G>A
|
|
|
NM_006514.4(SCN10A):c.884-3C>G
|
|
|
NM_006514.4(SCN10A):c.890T>G (p.Ile297Ser)
|
rs553913580
|
|
NM_006514.4(SCN10A):c.904C>T (p.Arg302Ter)
|
|
|
NM_006514.4(SCN10A):c.928T>G (p.Cys310Gly)
|
|
|
NM_006514.4(SCN10A):c.929G>A (p.Cys310Tyr)
|
|
|
NM_006514.4(SCN10A):c.932G>T (p.Gly311Val)
|
|
|
NM_006514.4(SCN10A):c.935A>G (p.Asn312Ser)
|
|
|
NM_006514.4(SCN10A):c.94C>A (p.Gln32Lys)
|
|
|
NM_006514.4(SCN10A):c.950+4A>G
|
|
|
NM_006514.4(SCN10A):c.952C>T (p.His318Tyr)
|
|
|
NM_006514.4(SCN10A):c.965G>A (p.Gly322Asp)
|
|
|
NM_006514.4(SCN10A):c.965G>T (p.Gly322Val)
|
|
|
NM_006514.4(SCN10A):c.995C>T (p.Pro332Leu)
|
|
|
NM_006888.6(CALM1):c.179-3G>A
|
|
|
NM_006888.6(CALM1):c.260G>A (p.Arg87His)
|
|
|
NM_006888.6(CALM1):c.392T>C (p.Ile131Thr)
|
|
|
NM_006888.6(CALM1):c.4-3T>C
|
|
|
NM_006888.6(CALM1):c.62A>G (p.Asp21Gly)
|
|
|
NM_006912.6(RIT1):c.113C>T (p.Thr38Ile)
|
|
|
NM_006912.6(RIT1):c.115A>G (p.Met39Val)
|
|
|
NM_006912.6(RIT1):c.173A>G (p.Tyr58Cys)
|
|
|
NM_006912.6(RIT1):c.22G>T (p.Val8Phe)
|
|
|
NM_006912.6(RIT1):c.259G>A (p.Asp87Asn)
|
|
|
NM_006912.6(RIT1):c.289A>C (p.Ile97Leu)
|
|
|
NM_006912.6(RIT1):c.356A>G (p.Tyr119Cys)
|
|
|
NM_006912.6(RIT1):c.359G>A (p.Arg120Gln)
|
|
|
NM_006912.6(RIT1):c.359G>T (p.Arg120Leu)
|
|
|
NM_006912.6(RIT1):c.373G>A (p.Asp125Asn)
|
|
|
NM_006912.6(RIT1):c.385G>A (p.Val129Met)
|
|
|
NM_006912.6(RIT1):c.41G>A (p.Ser14Asn)
|
|
|
NM_006912.6(RIT1):c.41G>T (p.Ser14Ile)
|
|
|
NM_006912.6(RIT1):c.532C>G (p.Leu178Val)
|
rs730881013
|
|
NM_006912.6(RIT1):c.535G>A (p.Val179Ile)
|
|
|
NM_006912.6(RIT1):c.538C>T (p.Arg180Trp)
|
|
|
NM_006912.6(RIT1):c.559A>C (p.Lys187Gln)
|
|
|
NM_006912.6(RIT1):c.588A>C (p.Lys196Asn)
|
|
|
NM_006912.6(RIT1):c.615G>T (p.Lys205Asn)
|
|
|
NM_006939.4(SOS2):c.1049A>G (p.His350Arg)
|
|
|
NM_006939.4(SOS2):c.110C>T (p.Thr37Ile)
|
|
|
NM_006939.4(SOS2):c.1171C>G (p.Gln391Glu)
|
|
|
NM_006939.4(SOS2):c.1187G>A (p.Arg396His)
|
|
|
NM_006939.4(SOS2):c.1189C>G (p.Arg397Gly)
|
rs777771444
|
|
NM_006939.4(SOS2):c.1192C>G (p.Pro398Ala)
|
|
|
NM_006939.4(SOS2):c.122A>G (p.Asn41Ser)
|
|
|
NM_006939.4(SOS2):c.1249A>T (p.Ile417Phe)
|
|
|
NM_006939.4(SOS2):c.1295G>T (p.Gly432Val)
|
|
|
NM_006939.4(SOS2):c.1320T>A (p.Asn440Lys)
|
rs1884941722
|
|
NM_006939.4(SOS2):c.1327A>C (p.Ile443Leu)
|
|
|
NM_006939.4(SOS2):c.1334A>C (p.Glu445Ala)
|
|
|
NM_006939.4(SOS2):c.1339C>A (p.Pro447Thr)
|
|
|
NM_006939.4(SOS2):c.1369C>T (p.Arg457Trp)
|
|
|
NM_006939.4(SOS2):c.1472A>G (p.Lys491Arg)
|
|
|
NM_006939.4(SOS2):c.1507G>A (p.Glu503Lys)
|
|
|
NM_006939.4(SOS2):c.1523A>G (p.His508Arg)
|
|
|
NM_006939.4(SOS2):c.1582T>A (p.Ser528Thr)
|
|
|
NM_006939.4(SOS2):c.1594A>G (p.Lys532Glu)
|
|
|
NM_006939.4(SOS2):c.1597A>C (p.Asn533His)
|
|
|
NM_006939.4(SOS2):c.1609G>T (p.Ala537Ser)
|
rs748632850
|
|
NM_006939.4(SOS2):c.1612G>A (p.Ala538Thr)
|
|
|
NM_006939.4(SOS2):c.1634G>A (p.Arg545His)
|
|
|
NM_006939.4(SOS2):c.1642C>A (p.Leu548Ile)
|
|
|
NM_006939.4(SOS2):c.1673A>G (p.Lys558Arg)
|
|
|
NM_006939.4(SOS2):c.1705A>G (p.Ser569Gly)
|
|
|
NM_006939.4(SOS2):c.1727T>G (p.Val576Gly)
|
|
|
NM_006939.4(SOS2):c.1737C>G (p.Asp579Glu)
|
|
|
NM_006939.4(SOS2):c.181A>C (p.Met61Leu)
|
|
|
NM_006939.4(SOS2):c.181A>G (p.Met61Val)
|
rs774761716
|
|
NM_006939.4(SOS2):c.1961C>T (p.Thr654Ile)
|
|
|
NM_006939.4(SOS2):c.1964A>G (p.Asp655Gly)
|
|
|
NM_006939.4(SOS2):c.1979C>G (p.Ala660Gly)
|
|
|
NM_006939.4(SOS2):c.1983A>G (p.Ile661Met)
|
|
|
NM_006939.4(SOS2):c.2027G>A (p.Arg676His)
|
|
|
NM_006939.4(SOS2):c.2065A>C (p.Asn689His)
|
|
|
NM_006939.4(SOS2):c.2166A>T (p.Lys722Asn)
|
rs769787486
|
|
NM_006939.4(SOS2):c.2204T>A (p.Ile735Asn)
|
|
|
NM_006939.4(SOS2):c.2217G>T (p.Lys739Asn)
|
rs186110427
|
|
NM_006939.4(SOS2):c.2233G>A (p.Gly745Arg)
|
|
|
NM_006939.4(SOS2):c.2243A>G (p.His748Arg)
|
|
|
NM_006939.4(SOS2):c.2277T>G (p.Ile759Met)
|
|
|
NM_006939.4(SOS2):c.2323A>G (p.Met775Val)
|
|
|
NM_006939.4(SOS2):c.2329C>T (p.Leu777Phe)
|
rs151074097
|
|
NM_006939.4(SOS2):c.2345T>C (p.Ile782Thr)
|
|
|
NM_006939.4(SOS2):c.2351G>A (p.Arg784His)
|
|
|
NM_006939.4(SOS2):c.238C>T (p.His80Tyr)
|
|
|
NM_006939.4(SOS2):c.2441T>G (p.Ile814Arg)
|
|
|
NM_006939.4(SOS2):c.2675A>C (p.Gln892Pro)
|
|
|
NM_006939.4(SOS2):c.2677G>A (p.Glu893Lys)
|
|
|
NM_006939.4(SOS2):c.2741T>A (p.Leu914Gln)
|
|
|
NM_006939.4(SOS2):c.2762A>G (p.Asn921Ser)
|
|
|
NM_006939.4(SOS2):c.282A>G (p.Ile94Met)
|
|
|
NM_006939.4(SOS2):c.2932T>A (p.Cys978Ser)
|
|
|
NM_006939.4(SOS2):c.2939G>A (p.Arg980Gln)
|
rs2139550610
|
|
NM_006939.4(SOS2):c.2983A>G (p.Met995Val)
|
rs933544183
|
|
NM_006939.4(SOS2):c.2986G>A (p.Gly996Arg)
|
rs780598157
|
|
NM_006939.4(SOS2):c.305C>T (p.Pro102Leu)
|
|
|
NM_006939.4(SOS2):c.3064C>A (p.Pro1022Thr)
|
rs2139528591
|
|
NM_006939.4(SOS2):c.3068C>T (p.Pro1023Leu)
|
|
|
NM_006939.4(SOS2):c.3128G>A (p.Gly1043Asp)
|
|
|
NM_006939.4(SOS2):c.3136G>T (p.Gly1046Cys)
|
|
|
NM_006939.4(SOS2):c.3188C>T (p.Pro1063Leu)
|
|
|
NM_006939.4(SOS2):c.3190T>A (p.Cys1064Ser)
|
|
|
NM_006939.4(SOS2):c.3190T>C (p.Cys1064Arg)
|
rs1224696199
|
|
NM_006939.4(SOS2):c.3263C>T (p.Thr1088Ile)
|
|
|
NM_006939.4(SOS2):c.3271A>G (p.Thr1091Ala)
|
|
|
NM_006939.4(SOS2):c.32T>A (p.Phe11Tyr)
|
|
|
NM_006939.4(SOS2):c.3341G>A (p.Ser1114Asn)
|
|
|
NM_006939.4(SOS2):c.3347G>A (p.Ser1116Asn)
|
|
|
NM_006939.4(SOS2):c.3362T>C (p.Val1121Ala)
|
|
|
NM_006939.4(SOS2):c.3425A>C (p.Glu1142Ala)
|
|
|
NM_006939.4(SOS2):c.3427C>T (p.Pro1143Ser)
|
|
|
NM_006939.4(SOS2):c.3442C>T (p.Pro1148Ser)
|
|
|
NM_006939.4(SOS2):c.3443C>G (p.Pro1148Arg)
|
rs1375287247
|
|
NM_006939.4(SOS2):c.3454C>G (p.Arg1152Gly)
|
|
|
NM_006939.4(SOS2):c.3470A>G (p.His1157Arg)
|
|
|
NM_006939.4(SOS2):c.3487A>G (p.Lys1163Glu)
|
|
|
NM_006939.4(SOS2):c.3539C>T (p.Pro1180Leu)
|
|
|
NM_006939.4(SOS2):c.3584C>T (p.Ala1195Val)
|
rs753151750
|
|
NM_006939.4(SOS2):c.3613C>A (p.Pro1205Thr)
|
|
|
NM_006939.4(SOS2):c.3623C>G (p.Pro1208Arg)
|
|
|
NM_006939.4(SOS2):c.3664C>T (p.Arg1222Trp)
|
|
|
NM_006939.4(SOS2):c.3665G>A (p.Arg1222Gln)
|
|
|
NM_006939.4(SOS2):c.3678C>G (p.His1226Gln)
|
|
|
NM_006939.4(SOS2):c.3761C>T (p.Thr1254Met)
|
|
|
NM_006939.4(SOS2):c.3772T>G (p.Ser1258Ala)
|
rs1344396759
|
|
NM_006939.4(SOS2):c.3818G>A (p.Arg1273Gln)
|
rs58365465
|
|
NM_006939.4(SOS2):c.383T>A (p.Leu128Gln)
|
|
|
NM_006939.4(SOS2):c.3898C>T (p.Pro1300Ser)
|
|
|
NM_006939.4(SOS2):c.3935G>A (p.Arg1312Gln)
|
|
|
NM_006939.4(SOS2):c.3939G>C (p.Glu1313Asp)
|
|
|
NM_006939.4(SOS2):c.40G>A (p.Glu14Lys)
|
|
|
NM_006939.4(SOS2):c.439A>G (p.Asn147Asp)
|
|
|
NM_006939.4(SOS2):c.503C>T (p.Ala168Val)
|
|
|
NM_006939.4(SOS2):c.511-4T>C
|
|
|
NM_006939.4(SOS2):c.541A>T (p.Ile181Leu)
|
|
|
NM_006939.4(SOS2):c.545G>T (p.Gly182Val)
|
rs149487643
|
|
NM_006939.4(SOS2):c.550G>C (p.Val184Leu)
|
|
|
NM_006939.4(SOS2):c.601G>C (p.Asp201His)
|
|
|
NM_006939.4(SOS2):c.674G>T (p.Arg225Leu)
|
|
|
NM_006939.4(SOS2):c.685C>A (p.Leu229Ile)
|
|
|
NM_006939.4(SOS2):c.705T>G (p.Phe235Leu)
|
|
|
NM_006939.4(SOS2):c.70G>T (p.Val24Phe)
|
|
|
NM_006939.4(SOS2):c.727A>G (p.Ile243Val)
|
|
|
NM_006939.4(SOS2):c.764T>G (p.Val255Gly)
|
|
|
NM_006939.4(SOS2):c.793G>C (p.Val265Leu)
|
|
|
NM_006939.4(SOS2):c.83G>A (p.Arg28Gln)
|
|
|
NM_006939.4(SOS2):c.854C>T (p.Ala285Val)
|
|
|
NM_006939.4(SOS2):c.94G>A (p.Glu32Lys)
|
|
|
NM_006939.4(SOS2):c.998T>C (p.Val333Ala)
|
|
|
NM_007078.3(LDB3):c.-3A>G
|
|
|
NM_007078.3(LDB3):c.1045_1050dup (p.Ser349_Thr350dup)
|
rs1276121533
|
|
NM_007078.3(LDB3):c.1088C>T (p.Pro363Leu)
|
|
|
NM_007078.3(LDB3):c.1094C>A (p.Ala365Asp)
|
|
|
NM_007078.3(LDB3):c.1097C>T (p.Ser366Phe)
|
|
|
NM_007078.3(LDB3):c.1160G>T (p.Gly387Val)
|
|
|
NM_007078.3(LDB3):c.116_245+122del
|
|
|
NM_007078.3(LDB3):c.1186C>T (p.Arg396Trp)
|
|
|
NM_007078.3(LDB3):c.1198A>G (p.Thr400Ala)
|
|
|
NM_007078.3(LDB3):c.1219_1222del (p.Val407fs)
|
|
|
NM_007078.3(LDB3):c.1227G>C (p.Gln409His)
|
|
|
NM_007078.3(LDB3):c.1231+4A>C
|
rs2132466323
|
|
NM_007078.3(LDB3):c.1252C>T (p.Pro418Ser)
|
|
|
NM_007078.3(LDB3):c.1253C>T (p.Pro418Leu)
|
rs141870580
|
|
NM_007078.3(LDB3):c.1268A>G (p.Asn423Ser)
|
|
|
NM_007078.3(LDB3):c.1274G>A (p.Ser425Asn)
|
|
|
NM_007078.3(LDB3):c.1286A>T (p.Tyr429Phe)
|
|
|
NM_007078.3(LDB3):c.1288A>G (p.Thr430Ala)
|
rs143163993
|
|
NM_007078.3(LDB3):c.1289C>T (p.Thr430Ile)
|
rs746183666
|
|
NM_007078.3(LDB3):c.1327C>T (p.Pro443Ser)
|
|
|
NM_007078.3(LDB3):c.1336A>G (p.Thr446Ala)
|
|
|
NM_007078.3(LDB3):c.1337C>A (p.Thr446Asn)
|
|
|
NM_007078.3(LDB3):c.1366T>A (p.Ser456Thr)
|
|
|
NM_007078.3(LDB3):c.1385C>A (p.Thr462Asn)
|
|
|
NM_007078.3(LDB3):c.1388C>A (p.Pro463His)
|
|
|
NM_007078.3(LDB3):c.1388C>T (p.Pro463Leu)
|
|
|
NM_007078.3(LDB3):c.1426G>T (p.Ala476Ser)
|
rs1222316982
|
|
NM_007078.3(LDB3):c.1445C>T (p.Ala482Val)
|
rs774313535
|
|
NM_007078.3(LDB3):c.145G>A (p.Val49Met)
|
rs200645175
|
|
NM_007078.3(LDB3):c.145G>C (p.Val49Leu)
|
rs200645175
|
|
NM_007078.3(LDB3):c.1466C>G (p.Pro489Arg)
|
|
|
NM_007078.3(LDB3):c.1468T>C (p.Trp490Arg)
|
rs1589675054
|
|
NM_007078.3(LDB3):c.1478A>G (p.Asp493Gly)
|
|
|
NM_007078.3(LDB3):c.1497G>C (p.Lys499Asn)
|
rs1278770988
|
|
NM_007078.3(LDB3):c.1498T>C (p.Phe500Leu)
|
|
|
NM_007078.3(LDB3):c.1507G>A (p.Gly503Ser)
|
|
|
NM_007078.3(LDB3):c.1520C>T (p.Thr507Ile)
|
|
|
NM_007078.3(LDB3):c.1538C>A (p.Thr513Asn)
|
rs748433510
|
|
NM_007078.3(LDB3):c.1567C>G (p.Pro523Ala)
|
rs794729062
|
|
NM_007078.3(LDB3):c.1601_1602dup (p.Thr535fs)
|
rs1846890164
|
|
NM_007078.3(LDB3):c.1603_1605delinsTGCCACTCA (p.Thr535delinsCysHisSer)
|
rs1589675306
|
|
NM_007078.3(LDB3):c.1609del (p.Gln537fs)
|
rs727503129
|
|
NM_007078.3(LDB3):c.1618G>A (p.Glu540Lys)
|
|
|
NM_007078.3(LDB3):c.1732G>A (p.Ala578Thr)
|
|
|
NM_007078.3(LDB3):c.1741A>C (p.Lys581Gln)
|
rs751506530
|
|
NM_007078.3(LDB3):c.1772A>G (p.Glu591Gly)
|
|
|
NM_007078.3(LDB3):c.1779G>C (p.Gln593His)
|
rs1291914478
|
|
NM_007078.3(LDB3):c.1780AAC[1] (p.Asn595del)
|
rs1554864337
|
|
NM_007078.3(LDB3):c.1789T>C (p.Tyr597His)
|
rs727503131
|
|
NM_007078.3(LDB3):c.1819G>A (p.Ala607Thr)
|
|
|
NM_007078.3(LDB3):c.1857+4A>G
|
|
|
NM_007078.3(LDB3):c.1862T>G (p.Val621Gly)
|
|
|
NM_007078.3(LDB3):c.18_23dup (p.Thr8_Gly9insLeuThr)
|
|
|
NM_007078.3(LDB3):c.1924C>G (p.Pro642Ala)
|
|
|
NM_007078.3(LDB3):c.1931G>A (p.Gly644Glu)
|
|
|
NM_007078.3(LDB3):c.1939C>G (p.Leu647Val)
|
|
|
NM_007078.3(LDB3):c.1952A>C (p.Glu651Ala)
|
|
|
NM_007078.3(LDB3):c.1954G>C (p.Asp652His)
|
|
|
NM_007078.3(LDB3):c.1957G>A (p.Gly653Arg)
|
|
|
NM_007078.3(LDB3):c.1995C>G (p.Phe665Leu)
|
|
|
NM_007078.3(LDB3):c.2008C>T (p.His670Tyr)
|
|
|
NM_007078.3(LDB3):c.2047A>C (p.Ile683Leu)
|
|
|
NM_007078.3(LDB3):c.2098T>C (p.Cys700Arg)
|
|
|
NM_007078.3(LDB3):c.212C>G (p.Ser71Cys)
|
rs772249948
|
|
NM_007078.3(LDB3):c.2131T>C (p.Ser711Pro)
|
|
|
NM_007078.3(LDB3):c.2132C>A (p.Ser711Tyr)
|
|
|
NM_007078.3(LDB3):c.2134AAG[1] (p.Lys713del)
|
|
|
NM_007078.3(LDB3):c.2150T>G (p.Leu717Arg)
|
rs753237785
|
|
NM_007078.3(LDB3):c.2155A>C (p.Lys719Gln)
|
rs397517220
|
|
NM_007078.3(LDB3):c.2161C>G (p.His721Asp)
|
|
|
NM_007078.3(LDB3):c.2180T>C (p.Leu727Ser)
|
|
|
NM_007078.3(LDB3):c.230G>A (p.Ser77Asn)
|
rs1554849117
|
|
NM_007078.3(LDB3):c.259A>C (p.Ile87Leu)
|
|
|
NM_007078.3(LDB3):c.263C>G (p.Pro88Arg)
|
|
|
NM_007078.3(LDB3):c.269C>T (p.Ser90Phe)
|
|
|
NM_007078.3(LDB3):c.26G>T (p.Gly9Val)
|
|
|
NM_007078.3(LDB3):c.280C>T (p.Pro94Ser)
|
|
|
NM_007078.3(LDB3):c.296C>T (p.Pro99Leu)
|
|
|
NM_007078.3(LDB3):c.305T>C (p.Val102Ala)
|
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NM_007078.3(LDB3):c.359C>T (p.Pro120Leu)
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NM_007078.3(LDB3):c.395C>G (p.Thr132Ser)
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NM_007078.3(LDB3):c.397C>T (p.Pro133Ser)
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NM_007078.3(LDB3):c.412C>G (p.Leu138Val)
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NM_007078.3(LDB3):c.418C>G (p.Pro140Ala)
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NM_007078.3(LDB3):c.434C>T (p.Ala145Val)
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NM_007078.3(LDB3):c.469G>A (p.Glu157Lys)
|
rs770678454
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NM_007078.3(LDB3):c.508G>T (p.Ala170Ser)
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NM_007078.3(LDB3):c.529dup (p.Ala177fs)
|
rs730880345
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NM_007078.3(LDB3):c.532C>T (p.Arg178Trp)
|
rs730880128
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NM_007078.3(LDB3):c.541C>T (p.Leu181Phe)
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rs1589623326
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NM_007078.3(LDB3):c.545G>A (p.Gly182Asp)
|
rs2132372366
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NM_007078.3(LDB3):c.548del (p.Pro183fs)
|
rs1285270306
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NM_007078.3(LDB3):c.55G>C (p.Gly19Arg)
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rs777413488
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NM_007078.3(LDB3):c.572A>G (p.Gln191Arg)
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NM_007078.3(LDB3):c.573G>T (p.Gln191His)
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NM_007078.3(LDB3):c.628A>G (p.Met210Val)
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NM_007078.3(LDB3):c.629T>C (p.Met210Thr)
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NM_007078.3(LDB3):c.632C>T (p.Ala211Val)
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NM_007078.3(LDB3):c.638T>C (p.Met213Thr)
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NM_007078.3(LDB3):c.688G>A (p.Gly230Arg)
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NM_007078.3(LDB3):c.689G>A (p.Gly230Glu)
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NM_007078.3(LDB3):c.718G>C (p.Asp240His)
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NM_007078.3(LDB3):c.762C>A (p.Asn254Lys)
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NM_007078.3(LDB3):c.797G>A (p.Arg266His)
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NM_007078.3(LDB3):c.842T>C (p.Met281Thr)
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NM_007078.3(LDB3):c.860-3C>T
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NM_007078.3(LDB3):c.892T>A (p.Ser298Thr)
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NM_007078.3(LDB3):c.897-2195_1046del
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NM_007078.3(LDB3):c.913G>T (p.Ala305Ser)
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NM_007078.3(LDB3):c.946C>A (p.Leu316Met)
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NM_007078.3(LDB3):c.948_957dup (p.Ser320fs)
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NM_007078.3(LDB3):c.952C>T (p.Pro318Ser)
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NM_007078.3(LDB3):c.990T>G (p.Ser330Arg)
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NM_007373.4(SHOC2):c.1257G>C (p.Glu419Asp)
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NM_007373.4(SHOC2):c.1292T>A (p.Ile431Asn)
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NM_007373.4(SHOC2):c.1554C>A (p.Asn518Lys)
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NM_007373.4(SHOC2):c.1587C>A (p.Asn529Lys)
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NM_007373.4(SHOC2):c.173G>A (p.Ser58Asn)
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NM_007373.4(SHOC2):c.202G>A (p.Val68Ile)
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NM_007373.4(SHOC2):c.214A>G (p.Ile72Val)
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NM_007373.4(SHOC2):c.256A>G (p.Ser86Gly)
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NM_007373.4(SHOC2):c.290G>T (p.Cys97Phe)
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NM_007373.4(SHOC2):c.370C>A (p.Gln124Lys)
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NM_007373.4(SHOC2):c.526T>A (p.Leu176Ile)
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NM_007373.4(SHOC2):c.52G>C (p.Val18Leu)
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NM_007373.4(SHOC2):c.53T>C (p.Val18Ala)
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NM_007373.4(SHOC2):c.562G>C (p.Val188Leu)
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NM_007373.4(SHOC2):c.576T>G (p.Asp192Glu)
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NM_007373.4(SHOC2):c.578C>G (p.Ser193Cys)
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NM_007373.4(SHOC2):c.755A>G (p.His252Arg)
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NM_007373.4(SHOC2):c.763A>G (p.Lys255Glu)
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NM_007373.4(SHOC2):c.77A>G (p.Lys26Arg)
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NM_007373.4(SHOC2):c.892G>A (p.Ala298Thr)
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NM_007373.4(SHOC2):c.907T>G (p.Leu303Val)
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NM_007373.4(SHOC2):c.910G>A (p.Ala304Thr)
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NM_007373.4(SHOC2):c.911C>T (p.Ala304Val)
|
rs759211899
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NM_007373.4(SHOC2):c.92C>T (p.Ser31Phe)
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NM_012186.3(FOXE3):c.101G>T (p.Gly34Val)
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NM_012186.3(FOXE3):c.103G>A (p.Ala35Thr)
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NM_012186.3(FOXE3):c.129G>C (p.Glu43Asp)
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NM_012186.3(FOXE3):c.134C>A (p.Ala45Glu)
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NM_012186.3(FOXE3):c.139G>C (p.Gly47Arg)
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NM_012186.3(FOXE3):c.140G>T (p.Gly47Val)
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NM_012186.3(FOXE3):c.143G>C (p.Arg48Pro)
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NM_012186.3(FOXE3):c.145G>A (p.Gly49Arg)
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NM_012186.3(FOXE3):c.151G>T (p.Ala51Ser)
|
rs1366587048
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NM_012186.3(FOXE3):c.152C>A (p.Ala51Glu)
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NM_012186.3(FOXE3):c.154G>C (p.Ala52Pro)
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NM_012186.3(FOXE3):c.157C>G (p.Pro53Ala)
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NM_012186.3(FOXE3):c.167C>A (p.Ala56Glu)
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NM_012186.3(FOXE3):c.173G>A (p.Gly58Asp)
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NM_012186.3(FOXE3):c.176C>T (p.Pro59Leu)
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NM_012186.3(FOXE3):c.178G>T (p.Gly60Trp)
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rs1646883301
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NM_012186.3(FOXE3):c.190C>G (p.Arg64Gly)
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NM_012186.3(FOXE3):c.196C>G (p.Pro66Ala)
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NM_012186.3(FOXE3):c.218C>T (p.Pro73Leu)
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NM_012186.3(FOXE3):c.245T>G (p.Met82Arg)
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NM_012186.3(FOXE3):c.260C>A (p.Ala87Asp)
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NM_012186.3(FOXE3):c.311G>A (p.Arg104His)
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NM_012186.3(FOXE3):c.331A>T (p.Ser111Cys)
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NM_012186.3(FOXE3):c.395T>G (p.Val132Gly)
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NM_012186.3(FOXE3):c.398C>T (p.Pro133Leu)
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NM_012186.3(FOXE3):c.3G>T (p.Met1Ile)
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NM_012186.3(FOXE3):c.454G>A (p.Ala152Thr)
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NM_012186.3(FOXE3):c.496C>A (p.Arg166Ser)
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NM_012186.3(FOXE3):c.508G>A (p.Ala170Thr)
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NM_012186.3(FOXE3):c.509C>T (p.Ala170Val)
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NM_012186.3(FOXE3):c.526_539del (p.Ala176fs)
|
rs2124043258
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NM_012186.3(FOXE3):c.548C>A (p.Pro183Gln)
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NM_012186.3(FOXE3):c.559C>T (p.Pro187Ser)
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rs2124043430
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NM_012186.3(FOXE3):c.560C>T (p.Pro187Leu)
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NM_012186.3(FOXE3):c.562TACGCGCCC[3] (p.188YAP[3])
|
rs768610152
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NM_012186.3(FOXE3):c.575CGCCCG[1] (p.192AP[1])
|
rs1336140217
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NM_012186.3(FOXE3):c.575CGCCCG[3] (p.Pro195_Gly196insAlaPro)
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NM_012186.3(FOXE3):c.635C>T (p.Pro212Leu)
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NM_012186.3(FOXE3):c.661A>T (p.Ser221Cys)
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NM_012186.3(FOXE3):c.704C>T (p.Pro235Leu)
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NM_012186.3(FOXE3):c.70C>A (p.Pro24Thr)
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NM_012186.3(FOXE3):c.725C>T (p.Ala242Val)
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NM_012186.3(FOXE3):c.733G>A (p.Ala245Thr)
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NM_012186.3(FOXE3):c.73T>G (p.Ser25Ala)
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NM_012186.3(FOXE3):c.740C>T (p.Ala247Val)
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NM_012186.3(FOXE3):c.758G>A (p.Cys253Tyr)
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NM_012186.3(FOXE3):c.769G>T (p.Ala257Ser)
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NM_012186.3(FOXE3):c.781C>G (p.Leu261Val)
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NM_012186.3(FOXE3):c.809T>C (p.Val270Ala)
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NM_012186.3(FOXE3):c.80C>T (p.Pro27Leu)
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NM_012186.3(FOXE3):c.823C>A (p.Arg275Ser)
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NM_012186.3(FOXE3):c.828CGGCCC[3] (p.Pro280_Leu281insGlyPro)
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NM_012186.3(FOXE3):c.82C>A (p.Pro28Thr)
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NM_012186.3(FOXE3):c.835G>A (p.Gly279Ser)
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NM_012186.3(FOXE3):c.839C>G (p.Pro280Arg)
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NM_012186.3(FOXE3):c.86C>G (p.Pro29Arg)
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NM_012186.3(FOXE3):c.872G>A (p.Gly291Glu)
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NM_012186.3(FOXE3):c.908A>C (p.Glu303Ala)
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NM_012186.3(FOXE3):c.938C>G (p.Ser313Trp)
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NM_014000.3(VCL):c.-4C>T
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NM_014000.3(VCL):c.1001_1015del (p.Gln334_Leu338del)
|
rs1554817370
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NM_014000.3(VCL):c.1016G>A (p.Arg339His)
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|
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NM_014000.3(VCL):c.1031G>T (p.Gly344Val)
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NM_014000.3(VCL):c.1040C>A (p.Pro347Gln)
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NM_014000.3(VCL):c.1064A>G (p.Gln355Arg)
|
|
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NM_014000.3(VCL):c.1108G>C (p.Ala370Pro)
|
|
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NM_014000.3(VCL):c.1115G>A (p.Arg372His)
|
rs377289804
|
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NM_014000.3(VCL):c.1171G>T (p.Ala391Ser)
|
|
|
NM_014000.3(VCL):c.118C>G (p.Leu40Val)
|
|
|
NM_014000.3(VCL):c.1195A>G (p.Asn399Asp)
|
rs377228795
|
|
NM_014000.3(VCL):c.1198G>T (p.Gly400Cys)
|
rs201361282
|
|
NM_014000.3(VCL):c.1228G>A (p.Gly410Ser)
|
|
|
NM_014000.3(VCL):c.122C>T (p.Thr41Ile)
|
|
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NM_014000.3(VCL):c.1312A>G (p.Ile438Val)
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|
|
NM_014000.3(VCL):c.1332A>C (p.Lys444Asn)
|
|
|
NM_014000.3(VCL):c.133G>A (p.Ala45Thr)
|
|
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NM_014000.3(VCL):c.1345C>T (p.Arg449Ter)
|
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NM_014000.3(VCL):c.1349G>C (p.Arg450Thr)
|
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NM_014000.3(VCL):c.1354G>A (p.Gly452Arg)
|
rs1015527957
|
|
NM_014000.3(VCL):c.1359A>C (p.Lys453Asn)
|
|
|
NM_014000.3(VCL):c.136G>T (p.Ala46Ser)
|
|
|
NM_014000.3(VCL):c.1379G>A (p.Arg460Gln)
|
rs753026034
|
|
NM_014000.3(VCL):c.1391A>G (p.Lys464Arg)
|
|
|
NM_014000.3(VCL):c.1395G>T (p.Gln465His)
|
|
|
NM_014000.3(VCL):c.142C>T (p.Gln48Ter)
|
|
|
NM_014000.3(VCL):c.1445C>A (p.Ala482Asp)
|
|
|
NM_014000.3(VCL):c.145G>A (p.Ala49Thr)
|
|
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NM_014000.3(VCL):c.146C>G (p.Ala49Gly)
|
|
|
NM_014000.3(VCL):c.1472T>C (p.Val491Ala)
|
rs1839933596
|
|
NM_014000.3(VCL):c.1495C>G (p.Gln499Glu)
|
|
|
NM_014000.3(VCL):c.1538G>A (p.Gly513Glu)
|
|
|
NM_014000.3(VCL):c.1543+2dup
|
|
|
NM_014000.3(VCL):c.1589C>G (p.Ala530Gly)
|
|
|
NM_014000.3(VCL):c.1591A>G (p.Asn531Asp)
|
|
|
NM_014000.3(VCL):c.1594G>A (p.Val532Ile)
|
|
|
NM_014000.3(VCL):c.1627G>A (p.Ala543Thr)
|
|
|
NM_014000.3(VCL):c.1639C>T (p.Arg547Ter)
|
rs397517234
|
|
NM_014000.3(VCL):c.1648C>G (p.Gln550Glu)
|
rs1406371942
|
|
NM_014000.3(VCL):c.1655C>A (p.Thr552Lys)
|
|
|
NM_014000.3(VCL):c.1661A>G (p.Gln554Arg)
|
|
|
NM_014000.3(VCL):c.1666G>T (p.Ala556Ser)
|
|
|
NM_014000.3(VCL):c.168+1del
|
|
|
NM_014000.3(VCL):c.1685G>A (p.Gly562Glu)
|
|
|
NM_014000.3(VCL):c.1699C>T (p.Pro567Ser)
|
|
|
NM_014000.3(VCL):c.1718C>G (p.Ala573Gly)
|
|
|
NM_014000.3(VCL):c.173G>C (p.Gly58Ala)
|
|
|
NM_014000.3(VCL):c.1791T>A (p.Asp597Glu)
|
rs1839983396
|
|
NM_014000.3(VCL):c.1801G>A (p.Asp601Asn)
|
|
|
NM_014000.3(VCL):c.1807A>T (p.Thr603Ser)
|
|
|
NM_014000.3(VCL):c.1810A>G (p.Thr604Ala)
|
rs754470470
|
|
NM_014000.3(VCL):c.1856C>A (p.Ala619Glu)
|
rs771628544
|
|
NM_014000.3(VCL):c.1856C>T (p.Ala619Val)
|
rs771628544
|
|
NM_014000.3(VCL):c.1877T>C (p.Phe626Ser)
|
|
|
NM_014000.3(VCL):c.1880_1881insGGA (p.Phe626_Asp627insGlu)
|
|
|
NM_014000.3(VCL):c.1921G>A (p.Gly641Ser)
|
rs765123545
|
|
NM_014000.3(VCL):c.1938G>T (p.Lys646Asn)
|
|
|
NM_014000.3(VCL):c.2021A>C (p.Gln674Pro)
|
|
|
NM_014000.3(VCL):c.2021A>G (p.Gln674Arg)
|
|
|
NM_014000.3(VCL):c.2023-1177_2051del
|
|
|
NM_014000.3(VCL):c.2035G>T (p.Ala679Ser)
|
rs375392559
|
|
NM_014000.3(VCL):c.20G>A (p.Arg7His)
|
rs764871020
|
|
NM_014000.3(VCL):c.2132-3C>A
|
rs1840110148
|
|
NM_014000.3(VCL):c.2137G>T (p.Val713Leu)
|
rs374737519
|
|
NM_014000.3(VCL):c.2143G>A (p.Glu715Lys)
|
rs1022329091
|
|
NM_014000.3(VCL):c.2219C>T (p.Ala740Val)
|
|
|
NM_014000.3(VCL):c.2255G>A (p.Gly752Glu)
|
rs2131928418
|
|
NM_014000.3(VCL):c.2275C>T (p.Arg759Trp)
|
|
|
NM_014000.3(VCL):c.227C>T (p.Pro76Leu)
|
|
|
NM_014000.3(VCL):c.2330C>T (p.Pro777Leu)
|
rs1564532927
|
|
NM_014000.3(VCL):c.2339G>A (p.Arg780His)
|
|
|
NM_014000.3(VCL):c.2386C>A (p.Pro796Thr)
|
rs749471739
|
|
NM_014000.3(VCL):c.2388_2389delinsAG (p.Met797Val)
|
rs1840114333
|
|
NM_014000.3(VCL):c.2389A>G (p.Met797Val)
|
|
|
NM_014000.3(VCL):c.2393T>C (p.Val798Ala)
|
|
|
NM_014000.3(VCL):c.2395A>G (p.Met799Val)
|
|
|
NM_014000.3(VCL):c.2407G>A (p.Ala803Thr)
|
rs754294941
|
|
NM_014000.3(VCL):c.2435-2A>C
|
|
|
NM_014000.3(VCL):c.2453T>A (p.Leu818Gln)
|
rs794727192
|
|
NM_014000.3(VCL):c.2455G>A (p.Asp819Asn)
|
|
|
NM_014000.3(VCL):c.2521G>A (p.Asp841Asn)
|
|
|
NM_014000.3(VCL):c.254G>T (p.Cys85Phe)
|
|
|
NM_014000.3(VCL):c.256A>T (p.Thr86Ser)
|
|
|
NM_014000.3(VCL):c.2656C>T (p.Pro886Ser)
|
|
|
NM_014000.3(VCL):c.2671G>A (p.Gly891Arg)
|
rs2131933634
|
|
NM_014000.3(VCL):c.2700G>A (p.Met900Ile)
|
|
|
NM_014000.3(VCL):c.2771G>A (p.Gly924Asp)
|
|
|
NM_014000.3(VCL):c.2775A>G (p.Ile925Met)
|
|
|
NM_014000.3(VCL):c.2775_2780del (p.Gly926_Val927del)
|
rs757018106
|
|
NM_014000.3(VCL):c.2777G>A (p.Gly926Asp)
|
|
|
NM_014000.3(VCL):c.2788G>A (p.Glu930Lys)
|
|
|
NM_014000.3(VCL):c.2809G>A (p.Ala937Thr)
|
rs1314540118
|
|
NM_014000.3(VCL):c.2818C>T (p.Pro940Ser)
|
|
|
NM_014000.3(VCL):c.2825C>A (p.Pro942His)
|
|
|
NM_014000.3(VCL):c.2827C>A (p.Pro943Thr)
|
rs71579375
|
|
NM_014000.3(VCL):c.2828del (p.Pro943fs)
|
rs1840230101
|
|
NM_014000.3(VCL):c.2828dup (p.Pro943_Asp944insTer)
|
|
|
NM_014000.3(VCL):c.2866A>G (p.Met956Val)
|
rs761830073
|
|
NM_014000.3(VCL):c.2882C>T (p.Pro961Leu)
|
rs754591130
|
|
NM_014000.3(VCL):c.2918T>C (p.Leu973Ser)
|
|
|
NM_014000.3(VCL):c.2929G>C (p.Ala977Pro)
|
|
|
NM_014000.3(VCL):c.2940G>T (p.Trp980Cys)
|
|
|
NM_014000.3(VCL):c.3025A>G (p.Ser1009Gly)
|
|
|
NM_014000.3(VCL):c.3212C>T (p.Ala1071Val)
|
|
|
NM_014000.3(VCL):c.3250T>C (p.Ser1084Pro)
|
|
|
NM_014000.3(VCL):c.3297G>A (p.Met1099Ile)
|
|
|
NM_014000.3(VCL):c.3373C>G (p.Arg1125Gly)
|
|
|
NM_014000.3(VCL):c.3380T>C (p.Val1127Ala)
|
|
|
NM_014000.3(VCL):c.448G>T (p.Val150Leu)
|
|
|
NM_014000.3(VCL):c.451G>T (p.Val151Leu)
|
|
|
NM_014000.3(VCL):c.530A>G (p.Glu177Gly)
|
|
|
NM_014000.3(VCL):c.535C>G (p.Gln179Glu)
|
|
|
NM_014000.3(VCL):c.562C>G (p.Arg188Gly)
|
|
|
NM_014000.3(VCL):c.565G>A (p.Val189Met)
|
rs151045204
|
|
NM_014000.3(VCL):c.565G>T (p.Val189Leu)
|
rs151045204
|
|
NM_014000.3(VCL):c.585G>A (p.Met195Ile)
|
|
|
NM_014000.3(VCL):c.597del (p.Glu200fs)
|
rs777492997
|
|
NM_014000.3(VCL):c.622+4C>G
|
rs201020802
|
|
NM_014000.3(VCL):c.709dup (p.Met237fs)
|
|
|
NM_014000.3(VCL):c.731T>A (p.Ile244Lys)
|
rs886038819
|
|
NM_014000.3(VCL):c.732A>G (p.Ile244Met)
|
|
|
NM_014000.3(VCL):c.773G>A (p.Trp258Ter)
|
|
|
NM_014000.3(VCL):c.780C>G (p.Ser260Arg)
|
rs774377548
|
|
NM_014000.3(VCL):c.79C>G (p.His27Asp)
|
|
|
NM_014000.3(VCL):c.818T>C (p.Ile273Thr)
|
rs762380935
|
|
NM_014000.3(VCL):c.854G>T (p.Arg285Leu)
|
|
|
NM_014000.3(VCL):c.868T>A (p.Ser290Thr)
|
|
|
NM_014000.3(VCL):c.873A>G (p.Pro291=)
|
|
|
NM_014000.3(VCL):c.889C>T (p.Gln297Ter)
|
|
|
NM_014000.3(VCL):c.898A>G (p.Arg300Gly)
|
|
|
NM_014000.3(VCL):c.923A>T (p.Lys308Ile)
|
|
|
NM_014000.3(VCL):c.949G>C (p.Glu317Gln)
|
|
|
NM_014000.3(VCL):c.960G>C (p.Glu320Asp)
|
|
|
NM_014000.3(VCL):c.964C>G (p.Leu322Val)
|
|
|
NM_014000.3(VCL):c.981G>A (p.Met327Ile)
|
|
|
NM_014391.3(ANKRD1):c.125A>G (p.Gln42Arg)
|
rs1408164414
|
|
NM_014391.3(ANKRD1):c.142C>G (p.Leu48Val)
|
|
|
NM_014391.3(ANKRD1):c.154C>T (p.Pro52Ser)
|
rs397517248
|
|
NM_014391.3(ANKRD1):c.167G>T (p.Gly56Val)
|
|
|
NM_014391.3(ANKRD1):c.175C>T (p.Gln59Ter)
|
|
|
NM_014391.3(ANKRD1):c.178T>A (p.Trp60Arg)
|
|
|
NM_014391.3(ANKRD1):c.191AAC[1] (p.Gln65del)
|
rs762660319
|
|
NM_014391.3(ANKRD1):c.207+1G>T
|
|
|
NM_014391.3(ANKRD1):c.217A>G (p.Lys73Glu)
|
|
|
NM_014391.3(ANKRD1):c.222A>C (p.Lys74Asn)
|
|
|
NM_014391.3(ANKRD1):c.222dup (p.Leu75fs)
|
rs776659587
|
|
NM_014391.3(ANKRD1):c.22G>A (p.Glu8Lys)
|
|
|
NM_014391.3(ANKRD1):c.269T>A (p.Ile90Asn)
|
|
|
NM_014391.3(ANKRD1):c.271A>G (p.Ile91Val)
|
|
|
NM_014391.3(ANKRD1):c.337G>T (p.Glu113Ter)
|
|
|
NM_014391.3(ANKRD1):c.400C>T (p.Pro134Ser)
|
|
|
NM_014391.3(ANKRD1):c.426C>G (p.Asp142Glu)
|
|
|
NM_014391.3(ANKRD1):c.429_431del (p.Lys143del)
|
|
|
NM_014391.3(ANKRD1):c.449A>G (p.Asp150Gly)
|
rs150266349
|
|
NM_014391.3(ANKRD1):c.450T>G (p.Asp150Glu)
|
|
|
NM_014391.3(ANKRD1):c.451G>T (p.Glu151Ter)
|
|
|
NM_014391.3(ANKRD1):c.461G>A (p.Arg154Gln)
|
|
|
NM_014391.3(ANKRD1):c.466G>C (p.Ala156Pro)
|
rs762882780
|
|
NM_014391.3(ANKRD1):c.524C>G (p.Ala175Gly)
|
|
|
NM_014391.3(ANKRD1):c.535A>G (p.Ile179Val)
|
rs1554827780
|
|
NM_014391.3(ANKRD1):c.53G>C (p.Gly18Ala)
|
|
|
NM_014391.3(ANKRD1):c.551T>C (p.Met184Thr)
|
rs1589509599
|
|
NM_014391.3(ANKRD1):c.553-3T>C
|
rs1554827672
|
|
NM_014391.3(ANKRD1):c.553-6_553-1dup
|
|
|
NM_014391.3(ANKRD1):c.554T>C (p.Leu185Pro)
|
|
|
NM_014391.3(ANKRD1):c.563C>T (p.Thr188Ile)
|
rs1847373286
|
|
NM_014391.3(ANKRD1):c.582C>G (p.Ser194Arg)
|
|
|
NM_014391.3(ANKRD1):c.583C>T (p.Arg195Cys)
|
|
|
NM_014391.3(ANKRD1):c.584G>C (p.Arg195Pro)
|
|
|
NM_014391.3(ANKRD1):c.596T>A (p.Leu199Gln)
|
|
|
NM_014391.3(ANKRD1):c.643del (p.Arg215fs)
|
|
|
NM_014391.3(ANKRD1):c.651+4T>A
|
rs765256800
|
|
NM_014391.3(ANKRD1):c.651+5T>C
|
|
|
NM_014391.3(ANKRD1):c.670C>T (p.His224Tyr)
|
rs764936194
|
|
NM_014391.3(ANKRD1):c.695A>G (p.Tyr232Cys)
|
|
|
NM_014391.3(ANKRD1):c.696T>A (p.Tyr232Ter)
|
|
|
NM_014391.3(ANKRD1):c.697G>C (p.Glu233Gln)
|
rs776158687
|
|
NM_014391.3(ANKRD1):c.699G>C (p.Glu233Asp)
|
|
|
NM_014391.3(ANKRD1):c.703G>A (p.Ala235Thr)
|
|
|
NM_014391.3(ANKRD1):c.706G>A (p.Glu236Lys)
|
|
|
NM_014391.3(ANKRD1):c.748A>T (p.Arg250Ter)
|
|
|
NM_014391.3(ANKRD1):c.749G>C (p.Arg250Thr)
|
|
|
NM_014391.3(ANKRD1):c.74C>A (p.Pro25His)
|
|
|
NM_014391.3(ANKRD1):c.750+3_750+6del
|
|
|
NM_014391.3(ANKRD1):c.750+4A>G
|
|
|
NM_014391.3(ANKRD1):c.761C>G (p.Thr254Ser)
|
rs1018718576
|
|
NM_014391.3(ANKRD1):c.764del (p.Pro255fs)
|
rs753476942
|
|
NM_014391.3(ANKRD1):c.785T>C (p.Leu262Pro)
|
|
|
NM_014391.3(ANKRD1):c.794A>C (p.Tyr265Ser)
|
|
|
NM_014391.3(ANKRD1):c.794A>G (p.Tyr265Cys)
|
|
|
NM_014391.3(ANKRD1):c.794_800dup (p.Met267delinsIleTer)
|
|
|
NM_014391.3(ANKRD1):c.889A>G (p.Asn297Asp)
|
|
|
NM_014391.3(ANKRD1):c.88G>T (p.Asp30Tyr)
|
|
|
NM_014391.3(ANKRD1):c.908T>G (p.Phe303Cys)
|
|
|
NM_014391.3(ANKRD1):c.92G>A (p.Gly31Glu)
|
rs763320656
|
|
NM_014391.3(ANKRD1):c.933C>A (p.Tyr311Ter)
|
|
|
NM_014391.3(ANKRD1):c.944G>A (p.Arg315His)
|
rs746392266
|
|
NM_014391.3(ANKRD1):c.949G>C (p.Ala317Pro)
|
rs771333829
|
|
NM_014391.3(ANKRD1):c.99T>G (p.Tyr33Ter)
|
|
|
NM_014908.4(DOLK):c.1066C>T (p.Arg356Trp)
|
|
|
NM_014908.4(DOLK):c.1110C>A (p.Phe370Leu)
|
|
|
NM_014908.4(DOLK):c.1138C>T (p.Arg380Cys)
|
rs775869216
|
|
NM_014908.4(DOLK):c.1141A>G (p.Ile381Val)
|
|
|
NM_014908.4(DOLK):c.1205G>C (p.Gly402Ala)
|
|
|
NM_014908.4(DOLK):c.1229A>G (p.Tyr410Cys)
|
|
|
NM_014908.4(DOLK):c.1282C>G (p.Gln428Glu)
|
|
|
NM_014908.4(DOLK):c.1288G>C (p.Gly430Arg)
|
rs140983401
|
|
NM_014908.4(DOLK):c.1327G>A (p.Gly443Ser)
|
|
|
NM_014908.4(DOLK):c.136G>T (p.Ala46Ser)
|
|
|
NM_014908.4(DOLK):c.1391T>G (p.Ile464Ser)
|
|
|
NM_014908.4(DOLK):c.143C>T (p.Ala48Val)
|
rs1293227197
|
|
NM_014908.4(DOLK):c.1462G>T (p.Ala488Ser)
|
rs1588261659
|
|
NM_014908.4(DOLK):c.1503_1504insTTGGTCCATCC (p.Ser502fs)
|
|
|
NM_014908.4(DOLK):c.1508A>G (p.Tyr503Cys)
|
|
|
NM_014908.4(DOLK):c.1510G>A (p.Ala504Thr)
|
|
|
NM_014908.4(DOLK):c.1569A>G (p.Ile523Met)
|
|
|
NM_014908.4(DOLK):c.1586C>T (p.Pro529Leu)
|
|
|
NM_014908.4(DOLK):c.170A>G (p.Gln57Arg)
|
|
|
NM_014908.4(DOLK):c.200G>A (p.Gly67Glu)
|
|
|
NM_014908.4(DOLK):c.225G>A (p.Met75Ile)
|
|
|
NM_014908.4(DOLK):c.277C>G (p.Leu93Val)
|
|
|
NM_014908.4(DOLK):c.280G>A (p.Val94Ile)
|
|
|
NM_014908.4(DOLK):c.313C>A (p.Pro105Thr)
|
rs1454594732
|
|
NM_014908.4(DOLK):c.322G>C (p.Glu108Gln)
|
|
|
NM_014908.4(DOLK):c.325C>A (p.Arg109Ser)
|
rs755188614
|
|
NM_014908.4(DOLK):c.325C>G (p.Arg109Gly)
|
rs755188614
|
|
NM_014908.4(DOLK):c.35C>T (p.Pro12Leu)
|
|
|
NM_014908.4(DOLK):c.377C>T (p.Ser126Leu)
|
|
|
NM_014908.4(DOLK):c.407T>C (p.Val136Ala)
|
rs1306944564
|
|
NM_014908.4(DOLK):c.41C>T (p.Ala14Val)
|
|
|
NM_014908.4(DOLK):c.452T>C (p.Ile151Thr)
|
|
|
NM_014908.4(DOLK):c.454A>G (p.Ile152Val)
|
|
|
NM_014908.4(DOLK):c.529C>T (p.Leu177Phe)
|
|
|
NM_014908.4(DOLK):c.56C>T (p.Ser19Leu)
|
|
|
NM_014908.4(DOLK):c.59T>G (p.Val20Gly)
|
|
|
NM_014908.4(DOLK):c.632G>A (p.Arg211His)
|
|
|
NM_014908.4(DOLK):c.650A>G (p.Glu217Gly)
|
|
|
NM_014908.4(DOLK):c.657G>C (p.Gln219His)
|
|
|
NM_014908.4(DOLK):c.698G>A (p.Gly233Glu)
|
|
|
NM_014908.4(DOLK):c.709A>G (p.Met237Val)
|
|
|
NM_014908.4(DOLK):c.728C>T (p.Thr243Ile)
|
|
|
NM_014908.4(DOLK):c.731T>A (p.Leu244Gln)
|
|
|
NM_014908.4(DOLK):c.743T>C (p.Met248Thr)
|
|
|
NM_014908.4(DOLK):c.781C>T (p.Leu261Phe)
|
|
|
NM_014908.4(DOLK):c.791G>T (p.Cys264Phe)
|
|
|
NM_014908.4(DOLK):c.797T>C (p.Leu266Pro)
|
|
|
NM_014908.4(DOLK):c.847C>T (p.Pro283Ser)
|
|
|
NM_014908.4(DOLK):c.890G>A (p.Arg297His)
|
|
|
NM_014908.4(DOLK):c.907T>C (p.Tyr303His)
|
|
|
NM_014908.4(DOLK):c.922G>A (p.Ala308Thr)
|
|
|
NM_015120.4(ALMS1):c.106_108dup (p.Ala36_Asn37insAla)
|
rs746896173
|
|
NM_015120.4(ALMS1):c.37G>A (p.Glu13Lys)
|
|
|
NM_015141.4(GPD1L):c.1020G>A (p.Met340Ile)
|
|
|
NM_015141.4(GPD1L):c.1025C>G (p.Ser342Cys)
|
rs1553663710
|
|
NM_015141.4(GPD1L):c.1028G>C (p.Cys343Ser)
|
|
|
NM_015141.4(GPD1L):c.104C>G (p.Ala35Gly)
|
|
|
NM_015141.4(GPD1L):c.205C>T (p.His69Tyr)
|
|
|
NM_015141.4(GPD1L):c.224T>G (p.Val75Gly)
|
rs1553658277
|
|
NM_015141.4(GPD1L):c.270G>A (p.Leu90=)
|
rs2125485191
|
|
NM_015141.4(GPD1L):c.283A>G (p.Ile95Val)
|
|
|
NM_015141.4(GPD1L):c.292C>G (p.Gln98Glu)
|
|
|
NM_015141.4(GPD1L):c.298A>C (p.Ile100Leu)
|
|
|
NM_015141.4(GPD1L):c.313G>T (p.Asp105Tyr)
|
|
|
NM_015141.4(GPD1L):c.322A>T (p.Thr108Ser)
|
|
|
NM_015141.4(GPD1L):c.356C>A (p.Thr119Asn)
|
|
|
NM_015141.4(GPD1L):c.358C>T (p.Leu120Phe)
|
|
|
NM_015141.4(GPD1L):c.366+5C>T
|
rs1553659674
|
|
NM_015141.4(GPD1L):c.391C>A (p.Leu131Met)
|
rs1700722701
|
|
NM_015141.4(GPD1L):c.400A>G (p.Ile134Val)
|
|
|
NM_015141.4(GPD1L):c.400A>T (p.Ile134Phe)
|
|
|
NM_015141.4(GPD1L):c.416G>T (p.Arg139Leu)
|
|
|
NM_015141.4(GPD1L):c.454G>A (p.Ala152Thr)
|
|
|
NM_015141.4(GPD1L):c.479C>T (p.Ala160Val)
|
|
|
NM_015141.4(GPD1L):c.506-3C>T
|
|
|
NM_015141.4(GPD1L):c.50G>C (p.Gly17Ala)
|
|
|
NM_015141.4(GPD1L):c.518T>C (p.Met173Thr)
|
rs886058332
|
|
NM_015141.4(GPD1L):c.535T>C (p.Phe179Leu)
|
|
|
NM_015141.4(GPD1L):c.544C>T (p.Leu182Phe)
|
|
|
NM_015141.4(GPD1L):c.560A>G (p.Asn187Ser)
|
rs951273802
|
|
NM_015141.4(GPD1L):c.585T>G (p.Asp195Glu)
|
|
|
NM_015141.4(GPD1L):c.58G>A (p.Val20Ile)
|
|
|
NM_015141.4(GPD1L):c.611C>G (p.Ala204Gly)
|
|
|
NM_015141.4(GPD1L):c.668A>G (p.Asp223Gly)
|
rs1553662705
|
|
NM_015141.4(GPD1L):c.674C>T (p.Thr225Ile)
|
|
|
NM_015141.4(GPD1L):c.700C>T (p.Leu234Phe)
|
|
|
NM_015141.4(GPD1L):c.740G>A (p.Gly247Asp)
|
|
|
NM_015141.4(GPD1L):c.745G>A (p.Val249Met)
|
rs148464224
|
|
NM_015141.4(GPD1L):c.745G>C (p.Val249Leu)
|
rs148464224
|
|
NM_015141.4(GPD1L):c.827C>T (p.Ala276Val)
|
|
|
NM_015141.4(GPD1L):c.837C>G (p.Phe279Leu)
|
|
|
NM_015141.4(GPD1L):c.853-2A>G
|
rs766733448
|
|
NM_015141.4(GPD1L):c.857T>C (p.Ile286Thr)
|
|
|
NM_015141.4(GPD1L):c.911C>T (p.Thr304Ile)
|
|
|
NM_015141.4(GPD1L):c.917_918delinsGG (p.Ala306Gly)
|
rs1701049565
|
|
NM_015141.4(GPD1L):c.929G>A (p.Arg310His)
|
|
|
NM_015141.4(GPD1L):c.995A>C (p.Tyr332Ser)
|
|
|
NM_015627.3(LDLRAP1):c.102C>A (p.Asn34Lys)
|
|
|
NM_015627.3(LDLRAP1):c.10C>T (p.Leu4Phe)
|
|
|
NM_015627.3(LDLRAP1):c.122C>A (p.Thr41Lys)
|
|
|
NM_015627.3(LDLRAP1):c.237G>T (p.Lys79Asn)
|
|
|
NM_015627.3(LDLRAP1):c.289A>G (p.Ile97Val)
|
|
|
NM_015627.3(LDLRAP1):c.299C>A (p.Thr100Lys)
|
|
|
NM_015627.3(LDLRAP1):c.302A>T (p.Asp101Val)
|
|
|
NM_015627.3(LDLRAP1):c.362C>T (p.Ala121Val)
|
|
|
NM_015627.3(LDLRAP1):c.394A>G (p.Ile132Val)
|
|
|
NM_015627.3(LDLRAP1):c.463C>G (p.Gln155Glu)
|
|
|
NM_015627.3(LDLRAP1):c.467C>T (p.Ala156Val)
|
|
|
NM_015627.3(LDLRAP1):c.46A>C (p.Ser16Arg)
|
rs1218572882
|
|
NM_015627.3(LDLRAP1):c.490G>A (p.Ala164Thr)
|
|
|
NM_015627.3(LDLRAP1):c.496A>G (p.Lys166Glu)
|
|
|
NM_015627.3(LDLRAP1):c.497A>G (p.Lys166Arg)
|
|
|
NM_015627.3(LDLRAP1):c.502G>A (p.Ala168Thr)
|
|
|
NM_015627.3(LDLRAP1):c.544A>G (p.Arg182Gly)
|
|
|
NM_015627.3(LDLRAP1):c.566G>A (p.Gly189Glu)
|
|
|
NM_015627.3(LDLRAP1):c.566G>C (p.Gly189Ala)
|
|
|
NM_015627.3(LDLRAP1):c.574G>A (p.Val192Ile)
|
|
|
NM_015627.3(LDLRAP1):c.586C>T (p.Arg196Cys)
|
|
|
NM_015627.3(LDLRAP1):c.587G>C (p.Arg196Pro)
|
|
|
NM_015627.3(LDLRAP1):c.599C>T (p.Thr200Ile)
|
|
|
NM_015627.3(LDLRAP1):c.59A>C (p.Gln20Pro)
|
|
|
NM_015627.3(LDLRAP1):c.602_604delinsGCC (p.Pro201_Ser202delinsArgPro)
|
|
|
NM_015627.3(LDLRAP1):c.619G>T (p.Val207Phe)
|
|
|
NM_015627.3(LDLRAP1):c.64T>C (p.Trp22Arg)
|
rs1057515535
|
|
NM_015627.3(LDLRAP1):c.656C>G (p.Ala219Gly)
|
rs1448386026
|
|
NM_015627.3(LDLRAP1):c.65G>C (p.Trp22Ser)
|
|
|
NM_015627.3(LDLRAP1):c.66G>C (p.Trp22Cys)
|
|
|
NM_015627.3(LDLRAP1):c.66G>T (p.Trp22Cys)
|
rs532723373
|
|
NM_015627.3(LDLRAP1):c.674C>G (p.Thr225Arg)
|
|
|
NM_015627.3(LDLRAP1):c.67G>C (p.Gly23Arg)
|
|
|
NM_015627.3(LDLRAP1):c.682G>A (p.Ala228Thr)
|
rs1242550557
|
|
NM_015627.3(LDLRAP1):c.688A>G (p.Thr230Ala)
|
|
|
NM_015627.3(LDLRAP1):c.705G>C (p.Glu235Asp)
|
|
|
NM_015627.3(LDLRAP1):c.70G>A (p.Gly24Ser)
|
rs563151154
|
|
NM_015627.3(LDLRAP1):c.715C>T (p.Pro239Ser)
|
|
|
NM_015627.3(LDLRAP1):c.782+4A>G
|
|
|
NM_015627.3(LDLRAP1):c.797G>A (p.Arg266Gln)
|
|
|
NM_015627.3(LDLRAP1):c.80G>C (p.Arg27Pro)
|
|
|
NM_015627.3(LDLRAP1):c.84C>G (p.His28Gln)
|
|
|
NM_015627.3(LDLRAP1):c.853C>T (p.Gln285Ter)
|
|
|
NM_015627.3(LDLRAP1):c.871G>A (p.Asp291Asn)
|
|
|
NM_015627.3(LDLRAP1):c.895G>A (p.Gly299Ser)
|
|
|
NM_016203.4(PRKAG2):c.1004T>C (p.Met335Thr)
|
rs730880978
|
|
NM_016203.4(PRKAG2):c.1006-1G>A
|
|
|
NM_016203.4(PRKAG2):c.1006G>A (p.Val336Ile)
|
rs727504707
|
|
NM_016203.4(PRKAG2):c.100C>T (p.Arg34Cys)
|
|
|
NM_016203.4(PRKAG2):c.1040A>G (p.Glu347Gly)
|
rs760258924
|
|
NM_016203.4(PRKAG2):c.1049G>A (p.Arg350Lys)
|
rs1330644534
|
|
NM_016203.4(PRKAG2):c.1061T>C (p.Leu354Ser)
|
|
|
NM_016203.4(PRKAG2):c.1066G>A (p.Glu356Lys)
|
|
|
NM_016203.4(PRKAG2):c.1079C>T (p.Pro360Leu)
|
|
|
NM_016203.4(PRKAG2):c.108C>G (p.His36Gln)
|
|
|
NM_016203.4(PRKAG2):c.1099G>A (p.Asp367Asn)
|
|
|
NM_016203.4(PRKAG2):c.1102G>T (p.Ala368Ser)
|
rs769212614
|
|
NM_016203.4(PRKAG2):c.110T>C (p.Ile37Thr)
|
|
|
NM_016203.4(PRKAG2):c.114+2T>G
|
|
|
NM_016203.4(PRKAG2):c.1149C>A (p.His383Gln)
|
|
|
NM_016203.4(PRKAG2):c.1183G>C (p.Ala395Pro)
|
|
|
NM_016203.4(PRKAG2):c.1264A>G (p.Lys422Glu)
|
|
|
NM_016203.4(PRKAG2):c.1321C>T (p.Pro441Ser)
|
|
|
NM_016203.4(PRKAG2):c.1349A>G (p.Asn450Ser)
|
|
|
NM_016203.4(PRKAG2):c.1393G>A (p.Glu465Lys)
|
|
|
NM_016203.4(PRKAG2):c.1423A>G (p.Lys475Glu)
|
|
|
NM_016203.4(PRKAG2):c.1459T>C (p.Tyr487His)
|
rs267606976
|
|
NM_016203.4(PRKAG2):c.1525G>T (p.Val509Leu)
|
|
|
NM_016203.4(PRKAG2):c.1532G>A (p.Cys511Tyr)
|
|
|
NM_016203.4(PRKAG2):c.154C>G (p.Leu52Val)
|
|
|
NM_016203.4(PRKAG2):c.1625T>C (p.Val542Ala)
|
|
|
NM_016203.4(PRKAG2):c.1646A>C (p.Asp549Ala)
|
rs730880982
|
|
NM_016203.4(PRKAG2):c.1648A>G (p.Ile550Val)
|
|
|
NM_016203.4(PRKAG2):c.1666C>G (p.Leu556Val)
|
|
|
NM_016203.4(PRKAG2):c.1681G>A (p.Ala561Thr)
|
rs61744760
|
|
NM_016203.4(PRKAG2):c.1705G>A (p.Glu569Lys)
|
rs730880983
|
|
NM_016203.4(PRKAG2):c.224G>C (p.Gly75Ala)
|
rs199963585
|
|
NM_016203.4(PRKAG2):c.26A>G (p.Lys9Arg)
|
rs574029693
|
|
NM_016203.4(PRKAG2):c.324C>A (p.Phe108Leu)
|
|
|
NM_016203.4(PRKAG2):c.341C>G (p.Pro114Arg)
|
rs375174733
|
|
NM_016203.4(PRKAG2):c.341C>T (p.Pro114Leu)
|
rs375174733
|
|
NM_016203.4(PRKAG2):c.347G>A (p.Arg116His)
|
rs369471907
|
|
NM_016203.4(PRKAG2):c.392C>T (p.Ser131Phe)
|
|
|
NM_016203.4(PRKAG2):c.433G>C (p.Gly145Arg)
|
|
|
NM_016203.4(PRKAG2):c.467-2A>G
|
|
|
NM_016203.4(PRKAG2):c.485C>T (p.Ser162Phe)
|
rs779526669
|
|
NM_016203.4(PRKAG2):c.4G>A (p.Gly2Arg)
|
|
|
NM_016203.4(PRKAG2):c.556C>T (p.Arg186Trp)
|
rs200392688
|
|
NM_016203.4(PRKAG2):c.557G>T (p.Arg186Leu)
|
rs145006140
|
|
NM_016203.4(PRKAG2):c.562G>A (p.Glu188Lys)
|
rs772303730
|
|
NM_016203.4(PRKAG2):c.571A>G (p.Ile191Val)
|
rs528201736
|
|
NM_016203.4(PRKAG2):c.575A>C (p.Tyr192Ser)
|
|
|
NM_016203.4(PRKAG2):c.593C>G (p.Pro198Arg)
|
rs41317142
|
|
NM_016203.4(PRKAG2):c.593dup (p.Asp199fs)
|
rs397517275
|
|
NM_016203.4(PRKAG2):c.622T>A (p.Ser208Thr)
|
rs1554530665
|
|
NM_016203.4(PRKAG2):c.626T>A (p.Phe209Tyr)
|
|
|
NM_016203.4(PRKAG2):c.631A>G (p.Ser211Gly)
|
|
|
NM_016203.4(PRKAG2):c.683C>G (p.Ala228Gly)
|
|
|
NM_016203.4(PRKAG2):c.684+1G>A
|
rs1457532924
|
|
NM_016203.4(PRKAG2):c.686C>T (p.Ala229Val)
|
|
|
NM_016203.4(PRKAG2):c.689C>T (p.Ala230Val)
|
rs1554507908
|
|
NM_016203.4(PRKAG2):c.693GGC[4] (p.Ala234dup)
|
rs878855020
|
|
NM_016203.4(PRKAG2):c.717A>C (p.Glu239Asp)
|
|
|
NM_016203.4(PRKAG2):c.737T>C (p.Leu246Pro)
|
|
|
NM_016203.4(PRKAG2):c.778_781dup (p.Tyr261fs)
|
rs1585114507
|
|
NM_016203.4(PRKAG2):c.787C>T (p.Arg263Ter)
|
rs886062100
|
|
NM_016203.4(PRKAG2):c.812A>G (p.Tyr271Cys)
|
|
|
NM_016203.4(PRKAG2):c.864+3_864+6del
|
|
|
NM_016203.4(PRKAG2):c.876CTT[1] (p.Phe294del)
|
|
|
NM_016203.4(PRKAG2):c.89G>A (p.Arg30Lys)
|
|
|
NM_016203.4(PRKAG2):c.925A>G (p.Ser309Gly)
|
|
|
NM_016203.4(PRKAG2):c.937A>C (p.Ser313Arg)
|
|
|
NM_016204.4(GDF2):c.1101T>A (p.Asp367Glu)
|
|
|
NM_016204.4(GDF2):c.1184C>T (p.Pro395Leu)
|
|
|
NM_016204.4(GDF2):c.529G>A (p.Asp177Asn)
|
|
|
NM_016204.4(GDF2):c.542C>A (p.Ala181Asp)
|
|
|
NM_016204.4(GDF2):c.740G>T (p.Gly247Val)
|
rs369219783
|
|
NM_016204.4(GDF2):c.832C>G (p.His278Asp)
|
|
|
NM_016204.4(GDF2):c.86del (p.Gly29fs)
|
|
|
NM_016204.4(GDF2):c.950G>A (p.Arg317Gln)
|
|
|
NM_016204.4(GDF2):c.968C>T (p.Ala323Val)
|
|
|
NM_016204.4(GDF2):c.998G>A (p.Arg333Gln)
|
|
|
NM_016599.5(MYOZ2):c.-3A>G
|
rs372377840
|
|
NM_016599.5(MYOZ2):c.119G>A (p.Arg40Lys)
|
|
|
NM_016599.5(MYOZ2):c.124A>T (p.Ile42Phe)
|
|
|
NM_016599.5(MYOZ2):c.129G>C (p.Met43Ile)
|
|
|
NM_016599.5(MYOZ2):c.135del (p.Glu46fs)
|
|
|
NM_016599.5(MYOZ2):c.141A>T (p.Leu47Phe)
|
|
|
NM_016599.5(MYOZ2):c.178A>T (p.Met60Leu)
|
rs2149221474
|
|
NM_016599.5(MYOZ2):c.17C>G (p.Thr6Ser)
|
rs397517289
|
|
NM_016599.5(MYOZ2):c.181C>G (p.Arg61Gly)
|
rs755233280
|
|
NM_016599.5(MYOZ2):c.193T>G (p.Ser65Ala)
|
|
|
NM_016599.5(MYOZ2):c.198C>A (p.Asp66Glu)
|
|
|
NM_016599.5(MYOZ2):c.1A>T (p.Met1Leu)
|
rs368392953
|
|
NM_016599.5(MYOZ2):c.20T>C (p.Met7Thr)
|
|
|
NM_016599.5(MYOZ2):c.217T>A (p.Phe73Ile)
|
|
|
NM_016599.5(MYOZ2):c.221A>G (p.Gln74Arg)
|
|
|
NM_016599.5(MYOZ2):c.222G>T (p.Gln74His)
|
|
|
NM_016599.5(MYOZ2):c.238C>A (p.Gln80Lys)
|
|
|
NM_016599.5(MYOZ2):c.246+4G>A
|
|
|
NM_016599.5(MYOZ2):c.253A>C (p.Ile85Leu)
|
|
|
NM_016599.5(MYOZ2):c.255T>G (p.Ile85Met)
|
|
|
NM_016599.5(MYOZ2):c.272A>G (p.Lys91Arg)
|
|
|
NM_016599.5(MYOZ2):c.295G>A (p.Gly99Ser)
|
|
|
NM_016599.5(MYOZ2):c.29A>G (p.Gln10Arg)
|
rs76757102
|
|
NM_016599.5(MYOZ2):c.302C>A (p.Ser101Ter)
|
rs138061447
|
|
NM_016599.5(MYOZ2):c.328A>T (p.Asn110Tyr)
|
|
|
NM_016599.5(MYOZ2):c.331A>G (p.Thr111Ala)
|
|
|
NM_016599.5(MYOZ2):c.362A>G (p.Asp121Gly)
|
|
|
NM_016599.5(MYOZ2):c.383C>G (p.Ser128Cys)
|
|
|
NM_016599.5(MYOZ2):c.383C>T (p.Ser128Phe)
|
|
|
NM_016599.5(MYOZ2):c.386G>A (p.Gly129Glu)
|
|
|
NM_016599.5(MYOZ2):c.517C>A (p.Pro173Thr)
|
|
|
NM_016599.5(MYOZ2):c.561-5C>T
|
|
|
NM_016599.5(MYOZ2):c.57G>A (p.Met19Ile)
|
|
|
NM_016599.5(MYOZ2):c.592G>T (p.Ala198Ser)
|
|
|
NM_016599.5(MYOZ2):c.673C>A (p.Pro225Thr)
|
|
|
NM_016599.5(MYOZ2):c.702G>C (p.Arg234Ser)
|
|
|
NM_016599.5(MYOZ2):c.711G>C (p.Lys237Asn)
|
|
|
NM_016599.5(MYOZ2):c.718A>G (p.Ile240Val)
|
rs1064796685
|
|
NM_016599.5(MYOZ2):c.737T>C (p.Ile246Thr)
|
|
|
NM_016599.5(MYOZ2):c.748A>C (p.Thr250Pro)
|
|
|
NM_016599.5(MYOZ2):c.767C>G (p.Thr256Ser)
|
|
|
NM_016599.5(MYOZ2):c.790C>G (p.Leu264Val)
|
|
|
NM_016599.5(MYOZ2):c.88A>G (p.Met30Val)
|
|
|
NM_016938.5(EFEMP2):c.1024T>C (p.Ser342Pro)
|
|
|
NM_016938.5(EFEMP2):c.1036C>T (p.Arg346Cys)
|
|
|
NM_016938.5(EFEMP2):c.1043T>A (p.Met348Lys)
|
|
|
NM_016938.5(EFEMP2):c.106T>C (p.Tyr36His)
|
|
|
NM_016938.5(EFEMP2):c.1072G>A (p.Ala358Thr)
|
|
|
NM_016938.5(EFEMP2):c.1078G>A (p.Val360Met)
|
|
|
NM_016938.5(EFEMP2):c.1153G>A (p.Gly385Arg)
|
|
|
NM_016938.5(EFEMP2):c.1165A>C (p.Ile389Leu)
|
|
|
NM_016938.5(EFEMP2):c.1177AAC[1] (p.Asn394del)
|
|
|
NM_016938.5(EFEMP2):c.1183G>T (p.Val395Phe)
|
|
|
NM_016938.5(EFEMP2):c.1192A>C (p.Met398Leu)
|
|
|
NM_016938.5(EFEMP2):c.1211C>G (p.Pro404Arg)
|
|
|
NM_016938.5(EFEMP2):c.1213G>C (p.Val405Leu)
|
|
|
NM_016938.5(EFEMP2):c.1280G>A (p.Arg427Gln)
|
|
|
NM_016938.5(EFEMP2):c.1289C>A (p.Ser430Tyr)
|
|
|
NM_016938.5(EFEMP2):c.1325C>A (p.Thr442Asn)
|
|
|
NM_016938.5(EFEMP2):c.185C>T (p.Pro62Leu)
|
|
|
NM_016938.5(EFEMP2):c.20G>T (p.Cys7Phe)
|
|
|
NM_016938.5(EFEMP2):c.223T>C (p.Tyr75His)
|
|
|
NM_016938.5(EFEMP2):c.256G>A (p.Ala86Thr)
|
|
|
NM_016938.5(EFEMP2):c.290C>A (p.Pro97Gln)
|
|
|
NM_016938.5(EFEMP2):c.305C>T (p.Pro102Leu)
|
|
|
NM_016938.5(EFEMP2):c.311A>G (p.Gln104Arg)
|
|
|
NM_016938.5(EFEMP2):c.315C>G (p.His105Gln)
|
|
|
NM_016938.5(EFEMP2):c.348C>A (p.Asp116Glu)
|
rs376350227
|
|
NM_016938.5(EFEMP2):c.454C>G (p.Pro152Ala)
|
|
|
NM_016938.5(EFEMP2):c.455C>A (p.Pro152His)
|
|
|
NM_016938.5(EFEMP2):c.466C>T (p.Arg156Cys)
|
|
|
NM_016938.5(EFEMP2):c.467G>A (p.Arg156His)
|
|
|
NM_016938.5(EFEMP2):c.493A>G (p.Ile165Val)
|
rs1859941615
|
|
NM_016938.5(EFEMP2):c.506G>T (p.Arg169Leu)
|
|
|
NM_016938.5(EFEMP2):c.511C>T (p.Arg171Cys)
|
|
|
NM_016938.5(EFEMP2):c.527G>A (p.Arg176His)
|
rs772504760
|
|
NM_016938.5(EFEMP2):c.548C>T (p.Ser183Phe)
|
|
|
NM_016938.5(EFEMP2):c.553C>T (p.Arg185Cys)
|
|
|
NM_016938.5(EFEMP2):c.635C>T (p.Pro212Leu)
|
|
|
NM_016938.5(EFEMP2):c.645G>T (p.Gln215His)
|
|
|
NM_016938.5(EFEMP2):c.647G>A (p.Arg216His)
|
|
|
NM_016938.5(EFEMP2):c.655A>G (p.Asn219Asp)
|
|
|
NM_016938.5(EFEMP2):c.68G>A (p.Gly23Glu)
|
|
|
NM_016938.5(EFEMP2):c.706C>T (p.Arg236Trp)
|
|
|
NM_016938.5(EFEMP2):c.726T>G (p.Ser242Arg)
|
|
|
NM_016938.5(EFEMP2):c.730A>G (p.Ile244Val)
|
|
|
NM_016938.5(EFEMP2):c.769C>T (p.Arg257Cys)
|
|
|
NM_016938.5(EFEMP2):c.773G>A (p.Cys258Tyr)
|
|
|
NM_016938.5(EFEMP2):c.77C>T (p.Ser26Phe)
|
|
|
NM_016938.5(EFEMP2):c.872C>G (p.Ala291Gly)
|
rs753778921
|
|
NM_016938.5(EFEMP2):c.923G>A (p.Arg308His)
|
|
|
NM_016938.5(EFEMP2):c.937_939delinsGAT (p.Asn313Asp)
|
|
|
NM_016938.5(EFEMP2):c.964G>T (p.Val322Phe)
|
rs759573856
|
|
NM_017617.5(NOTCH1):c.7311G>T (p.Glu2437Asp)
|
rs886039031
|
|
NM_017636.4(TRPM4):c.1000C>T (p.Arg334Ter)
|
|
|
NM_017636.4(TRPM4):c.1009C>T (p.Arg337Cys)
|
rs368950027
|
|
NM_017636.4(TRPM4):c.1045G>T (p.Ala349Ser)
|
|
|
NM_017636.4(TRPM4):c.1051G>A (p.Val351Met)
|
rs761344945
|
|
NM_017636.4(TRPM4):c.1085C>T (p.Thr362Ile)
|
|
|
NM_017636.4(TRPM4):c.1120G>A (p.Glu374Lys)
|
|
|
NM_017636.4(TRPM4):c.1120G>C (p.Glu374Gln)
|
|
|
NM_017636.4(TRPM4):c.1141C>T (p.Leu381Phe)
|
|
|
NM_017636.4(TRPM4):c.116G>A (p.Arg39His)
|
|
|
NM_017636.4(TRPM4):c.1180C>G (p.Leu394Val)
|
|
|
NM_017636.4(TRPM4):c.1212C>A (p.Asn404Lys)
|
rs755499876
|
|
NM_017636.4(TRPM4):c.1214G>C (p.Arg405Pro)
|
|
|
NM_017636.4(TRPM4):c.1249del (p.Asp417fs)
|
rs750295454
|
|
NM_017636.4(TRPM4):c.124A>G (p.Thr42Ala)
|
|
|
NM_017636.4(TRPM4):c.1311dup (p.Pro438fs)
|
rs755946769
|
|
NM_017636.4(TRPM4):c.1362C>A (p.Phe454Leu)
|
|
|
NM_017636.4(TRPM4):c.1400C>T (p.Ala467Val)
|
|
|
NM_017636.4(TRPM4):c.1418T>C (p.Ile473Thr)
|
|
|
NM_017636.4(TRPM4):c.145A>C (p.Met49Leu)
|
|
|
NM_017636.4(TRPM4):c.1491G>T (p.Glu497Asp)
|
|
|
NM_017636.4(TRPM4):c.1492C>T (p.Leu498Phe)
|
|
|
NM_017636.4(TRPM4):c.1507G>C (p.Val503Leu)
|
|
|
NM_017636.4(TRPM4):c.1526T>C (p.Met509Thr)
|
|
|
NM_017636.4(TRPM4):c.1532T>A (p.Leu511Gln)
|
rs200508171
|
|
NM_017636.4(TRPM4):c.1541T>C (p.Met514Thr)
|
|
|
NM_017636.4(TRPM4):c.1550C>T (p.Pro517Leu)
|
|
|
NM_017636.4(TRPM4):c.1553G>A (p.Arg518Lys)
|
|
|
NM_017636.4(TRPM4):c.1559C>G (p.Pro520Arg)
|
|
|
NM_017636.4(TRPM4):c.1570G>C (p.Ala524Pro)
|
rs898326272
|
|
NM_017636.4(TRPM4):c.1574G>A (p.Trp525Ter)
|
|
|
NM_017636.4(TRPM4):c.1586C>A (p.Pro529Gln)
|
|
|
NM_017636.4(TRPM4):c.1601_1605dup (p.Ser536fs)
|
|
|
NM_017636.4(TRPM4):c.1608C>G (p.Ser536Arg)
|
|
|
NM_017636.4(TRPM4):c.160G>A (p.Gly54Arg)
|
|
|
NM_017636.4(TRPM4):c.1611G>C (p.Met537Ile)
|
|
|
NM_017636.4(TRPM4):c.1626C>G (p.Asp542Glu)
|
|
|
NM_017636.4(TRPM4):c.1630G>T (p.Ala544Ser)
|
|
|
NM_017636.4(TRPM4):c.1636T>C (p.Ser546Pro)
|
|
|
NM_017636.4(TRPM4):c.1639C>T (p.Pro547Ser)
|
|
|
NM_017636.4(TRPM4):c.1654G>A (p.Ala552Thr)
|
|
|
NM_017636.4(TRPM4):c.1655C>G (p.Ala552Gly)
|
|
|
NM_017636.4(TRPM4):c.1687CTT[3] (p.Leu564dup)
|
rs772690187
|
|
NM_017636.4(TRPM4):c.1715C>A (p.Ala572Glu)
|
|
|
NM_017636.4(TRPM4):c.1744-3C>T
|
|
|
NM_017636.4(TRPM4):c.1744G>C (p.Gly582Arg)
|
|
|
NM_017636.4(TRPM4):c.1759T>A (p.Ser587Thr)
|
|
|
NM_017636.4(TRPM4):c.1771G>C (p.Gly591Arg)
|
|
|
NM_017636.4(TRPM4):c.1774G>A (p.Ala592Thr)
|
|
|
NM_017636.4(TRPM4):c.1797G>T (p.Met599Ile)
|
|
|
NM_017636.4(TRPM4):c.1809G>T (p.Glu603Asp)
|
|
|
NM_017636.4(TRPM4):c.1841A>T (p.Asp614Val)
|
|
|
NM_017636.4(TRPM4):c.1870G>A (p.Val624Ile)
|
|
|
NM_017636.4(TRPM4):c.1873+3G>T
|
rs779988026
|
|
NM_017636.4(TRPM4):c.1875C>G (p.Asp625Glu)
|
|
|
NM_017636.4(TRPM4):c.1898G>A (p.Ser633Asn)
|
|
|
NM_017636.4(TRPM4):c.18G>C (p.Lys6Asn)
|
|
|
NM_017636.4(TRPM4):c.1912G>A (p.Ala638Thr)
|
|
|
NM_017636.4(TRPM4):c.1918C>T (p.Arg640Cys)
|
|
|
NM_017636.4(TRPM4):c.1919G>A (p.Arg640His)
|
|
|
NM_017636.4(TRPM4):c.1940C>T (p.Pro647Leu)
|
rs201329004
|
|
NM_017636.4(TRPM4):c.1946G>T (p.Trp649Leu)
|
|
|
NM_017636.4(TRPM4):c.1991G>T (p.Arg664Leu)
|
|
|
NM_017636.4(TRPM4):c.1994C>A (p.Ala665Asp)
|
|
|
NM_017636.4(TRPM4):c.1994C>T (p.Ala665Val)
|
|
|
NM_017636.4(TRPM4):c.1A>C (p.Met1Leu)
|
|
|
NM_017636.4(TRPM4):c.2006A>G (p.Gln669Arg)
|
|
|
NM_017636.4(TRPM4):c.2020-5C>A
|
|
|
NM_017636.4(TRPM4):c.2043G>A (p.Trp681Ter)
|
|
|
NM_017636.4(TRPM4):c.2098C>A (p.Pro700Thr)
|
|
|
NM_017636.4(TRPM4):c.2098C>T (p.Pro700Ser)
|
|
|
NM_017636.4(TRPM4):c.2111A>G (p.Tyr704Cys)
|
|
|
NM_017636.4(TRPM4):c.2132+5G>T
|
|
|
NM_017636.4(TRPM4):c.2133-5G>A
|
rs762827140
|
|
NM_017636.4(TRPM4):c.2144del (p.Glu715fs)
|
|
|
NM_017636.4(TRPM4):c.2145G>C (p.Glu715Asp)
|
|
|
NM_017636.4(TRPM4):c.2148G>T (p.Glu716Asp)
|
|
|
NM_017636.4(TRPM4):c.2153C>G (p.Thr718Arg)
|
|
|
NM_017636.4(TRPM4):c.2173G>C (p.Asp725His)
|
|
|
NM_017636.4(TRPM4):c.2203C>G (p.Pro735Ala)
|
|
|
NM_017636.4(TRPM4):c.2211-5C>T
|
|
|
NM_017636.4(TRPM4):c.2216C>T (p.Ala739Val)
|
rs550934129
|
|
NM_017636.4(TRPM4):c.2222C>G (p.Pro741Arg)
|
|
|
NM_017636.4(TRPM4):c.2227G>C (p.Glu743Gln)
|
rs2123040780
|
|
NM_017636.4(TRPM4):c.2245G>A (p.Val749Ile)
|
|
|
NM_017636.4(TRPM4):c.2263C>T (p.Arg755Cys)
|
|
|
NM_017636.4(TRPM4):c.226G>A (p.Gly76Arg)
|
|
|
NM_017636.4(TRPM4):c.2295dup (p.Arg766fs)
|
rs748307155
|
|
NM_017636.4(TRPM4):c.2303G>T (p.Cys768Phe)
|
|
|
NM_017636.4(TRPM4):c.2309G>T (p.Arg770Leu)
|
|
|
NM_017636.4(TRPM4):c.2317T>C (p.Phe773Leu)
|
|
|
NM_017636.4(TRPM4):c.2332G>T (p.Ala778Ser)
|
|
|
NM_017636.4(TRPM4):c.2333C>T (p.Ala778Val)
|
|
|
NM_017636.4(TRPM4):c.2353G>A (p.Gly785Ser)
|
|
|
NM_017636.4(TRPM4):c.2365A>G (p.Ser789Gly)
|
|
|
NM_017636.4(TRPM4):c.236A>G (p.Asp79Gly)
|
|
|
NM_017636.4(TRPM4):c.2374C>A (p.Leu792Met)
|
|
|
NM_017636.4(TRPM4):c.2420C>A (p.Pro807Gln)
|
|
|
NM_017636.4(TRPM4):c.2425C>T (p.Pro809Ser)
|
|
|
NM_017636.4(TRPM4):c.2432G>C (p.Gly811Ala)
|
rs1968657075
|
|
NM_017636.4(TRPM4):c.2438T>C (p.Leu813Pro)
|
|
|
NM_017636.4(TRPM4):c.2438T>G (p.Leu813Arg)
|
|
|
NM_017636.4(TRPM4):c.2446C>A (p.Leu816Met)
|
rs544807596
|
|
NM_017636.4(TRPM4):c.2479G>A (p.Glu827Lys)
|
rs1359936280
|
|
NM_017636.4(TRPM4):c.247del (p.Ala83fs)
|
|
|
NM_017636.4(TRPM4):c.247dup (p.Ala83fs)
|
rs754625848
|
|
NM_017636.4(TRPM4):c.2489G>T (p.Arg830Leu)
|
|
|
NM_017636.4(TRPM4):c.2502C>A (p.Ser834Arg)
|
|
|
NM_017636.4(TRPM4):c.250G>T (p.Gly84Cys)
|
|
|
NM_017636.4(TRPM4):c.2512G>A (p.Gly838Ser)
|
|
|
NM_017636.4(TRPM4):c.2513del (p.Gly838fs)
|
rs747536688
|
|
NM_017636.4(TRPM4):c.2513dup (p.Ser839fs)
|
rs747536688
|
|
NM_017636.4(TRPM4):c.2515_2532del (p.Ser839_Gly844del)
|
|
|
NM_017636.4(TRPM4):c.2533C>G (p.Pro845Ala)
|
|
|
NM_017636.4(TRPM4):c.2542G>C (p.Gly848Arg)
|
|
|
NM_017636.4(TRPM4):c.2584G>A (p.Asp862Asn)
|
|
|
NM_017636.4(TRPM4):c.2587A>G (p.Ser863Gly)
|
|
|
NM_017636.4(TRPM4):c.2596del (p.Gln866fs)
|
|
|
NM_017636.4(TRPM4):c.2612C>G (p.Ala871Gly)
|
|
|
NM_017636.4(TRPM4):c.2621G>A (p.Cys874Tyr)
|
|
|
NM_017636.4(TRPM4):c.2645+1G>A
|
rs1568485293
|
|
NM_017636.4(TRPM4):c.2657G>T (p.Gly886Val)
|
|
|
NM_017636.4(TRPM4):c.2665del (p.His889fs)
|
rs777047595
|
|
NM_017636.4(TRPM4):c.2689A>G (p.Ile897Val)
|
|
|
NM_017636.4(TRPM4):c.2708C>T (p.Thr903Met)
|
|
|
NM_017636.4(TRPM4):c.2717T>C (p.Leu906Pro)
|
|
|
NM_017636.4(TRPM4):c.2734G>A (p.Val912Ile)
|
rs1968869813
|
|
NM_017636.4(TRPM4):c.2758A>C (p.Ile920Leu)
|
|
|
NM_017636.4(TRPM4):c.2766C>A (p.Ile922=)
|
rs774680517
|
|
NM_017636.4(TRPM4):c.2767G>A (p.Val923Met)
|
rs759518981
|
|
NM_017636.4(TRPM4):c.2767G>C (p.Val923Leu)
|
|
|
NM_017636.4(TRPM4):c.2778+2T>C
|
|
|
NM_017636.4(TRPM4):c.2780T>A (p.Met927Lys)
|
|
|
NM_017636.4(TRPM4):c.2790_2801del (p.Phe933_Phe936del)
|
|
|
NM_017636.4(TRPM4):c.2791TTC[2] (p.Phe933del)
|
rs753722479
|
|
NM_017636.4(TRPM4):c.2803TTC[1] (p.Phe936del)
|
|
|
NM_017636.4(TRPM4):c.2805C>T (p.Phe935=)
|
|
|
NM_017636.4(TRPM4):c.2806T>A (p.Phe936Ile)
|
rs1421769946
|
|
NM_017636.4(TRPM4):c.2824G>A (p.Val942Ile)
|
|
|
NM_017636.4(TRPM4):c.2827G>A (p.Ala943Thr)
|
|
|
NM_017636.4(TRPM4):c.2828C>A (p.Ala943Asp)
|
|
|
NM_017636.4(TRPM4):c.2829_2843del (p.Tyr944_Thr948del)
|
|
|
NM_017636.4(TRPM4):c.2830T>A (p.Tyr944Asn)
|
|
|
NM_017636.4(TRPM4):c.2882G>A (p.Ser961Asn)
|
|
|
NM_017636.4(TRPM4):c.2894G>A (p.Arg965His)
|
rs150452571
|
|
NM_017636.4(TRPM4):c.2906G>T (p.Arg969Leu)
|
|
|
NM_017636.4(TRPM4):c.294T>A (p.Asp98Glu)
|
rs940653559
|
|
NM_017636.4(TRPM4):c.2953+1G>A
|
|
|
NM_017636.4(TRPM4):c.2953+5G>A
|
|
|
NM_017636.4(TRPM4):c.2956G>A (p.Ala986Thr)
|
|
|
NM_017636.4(TRPM4):c.2977T>C (p.Cys993Arg)
|
|
|
NM_017636.4(TRPM4):c.2978G>T (p.Cys993Phe)
|
rs1555763492
|
|
NM_017636.4(TRPM4):c.298G>T (p.Ala100Ser)
|
rs1967287181
|
|
NM_017636.4(TRPM4):c.2990C>A (p.Pro997His)
|
|
|
NM_017636.4(TRPM4):c.299C>A (p.Ala100Asp)
|
rs746695564
|
|
NM_017636.4(TRPM4):c.3004C>T (p.His1002Tyr)
|
|
|
NM_017636.4(TRPM4):c.3016del (p.Ala1006fs)
|
|
|
NM_017636.4(TRPM4):c.3031dup (p.Cys1011fs)
|
rs752891976
|
|
NM_017636.4(TRPM4):c.3042G>C (p.Gln1014His)
|
|
|
NM_017636.4(TRPM4):c.3047C>T (p.Ala1016Val)
|
|
|
NM_017636.4(TRPM4):c.3076A>C (p.Ile1026Leu)
|
rs1211638624
|
|
NM_017636.4(TRPM4):c.3088G>A (p.Val1030Met)
|
|
|
NM_017636.4(TRPM4):c.3126G>A (p.Met1042Ile)
|
|
|
NM_017636.4(TRPM4):c.3131+1G>T
|
|
|
NM_017636.4(TRPM4):c.3148G>A (p.Val1050Ile)
|
|
|
NM_017636.4(TRPM4):c.3149T>C (p.Val1050Ala)
|
|
|
NM_017636.4(TRPM4):c.3164A>G (p.Asp1055Gly)
|
|
|
NM_017636.4(TRPM4):c.3199C>T (p.Arg1067Trp)
|
|
|
NM_017636.4(TRPM4):c.31A>G (p.Ile11Val)
|
|
|
NM_017636.4(TRPM4):c.3216_3217delinsA (p.Ala1074fs)
|
|
|
NM_017636.4(TRPM4):c.3217C>A (p.Pro1073Thr)
|
|
|
NM_017636.4(TRPM4):c.3221C>T (p.Ala1074Val)
|
|
|
NM_017636.4(TRPM4):c.3224T>G (p.Leu1075Arg)
|
rs144421653
|
|
NM_017636.4(TRPM4):c.323G>T (p.Arg108Leu)
|
|
|
NM_017636.4(TRPM4):c.3254T>G (p.Leu1085Trp)
|
|
|
NM_017636.4(TRPM4):c.3260T>C (p.Leu1087Pro)
|
rs756423415
|
|
NM_017636.4(TRPM4):c.3265C>T (p.Leu1089Phe)
|
|
|
NM_017636.4(TRPM4):c.326C>G (p.Thr109Arg)
|
|
|
NM_017636.4(TRPM4):c.326C>T (p.Thr109Ile)
|
|
|
NM_017636.4(TRPM4):c.3293G>A (p.Ser1098Asn)
|
|
|
NM_017636.4(TRPM4):c.3293G>T (p.Ser1098Ile)
|
|
|
NM_017636.4(TRPM4):c.3301C>A (p.Pro1101Thr)
|
|
|
NM_017636.4(TRPM4):c.3308C>T (p.Ser1103Phe)
|
|
|
NM_017636.4(TRPM4):c.3314C>T (p.Ala1105Val)
|
|
|
NM_017636.4(TRPM4):c.3329-3C>T
|
|
|
NM_017636.4(TRPM4):c.332G>A (p.Gly111Asp)
|
|
|
NM_017636.4(TRPM4):c.3339_3342del (p.Ser1114fs)
|
rs1054561100
|
|
NM_017636.4(TRPM4):c.3349G>T (p.Ala1117Ser)
|
|
|
NM_017636.4(TRPM4):c.3352G>T (p.Glu1118Ter)
|
rs999232875
|
|
NM_017636.4(TRPM4):c.3368C>A (p.Thr1123Lys)
|
|
|
NM_017636.4(TRPM4):c.3391A>G (p.Asn1131Asp)
|
|
|
NM_017636.4(TRPM4):c.3403G>C (p.Ala1135Pro)
|
|
|
NM_017636.4(TRPM4):c.3416_3417delinsGA (p.Asp1139Gly)
|
|
|
NM_017636.4(TRPM4):c.3419A>T (p.Lys1140Met)
|
rs1060502508
|
|
NM_017636.4(TRPM4):c.343C>T (p.Pro115Ser)
|
|
|
NM_017636.4(TRPM4):c.344del (p.Pro115fs)
|
rs777609699
|
|
NM_017636.4(TRPM4):c.3496C>G (p.Arg1166Gly)
|
|
|
NM_017636.4(TRPM4):c.3512G>T (p.Arg1171Leu)
|
rs762615860
|
|
NM_017636.4(TRPM4):c.3527A>C (p.Glu1176Ala)
|
|
|
NM_017636.4(TRPM4):c.3529C>G (p.Arg1177Gly)
|
|
|
NM_017636.4(TRPM4):c.3535-2A>C
|
|
|
NM_017636.4(TRPM4):c.3550C>A (p.Arg1184Ser)
|
|
|
NM_017636.4(TRPM4):c.3568G>A (p.Ala1190Thr)
|
rs1163408519
|
|
NM_017636.4(TRPM4):c.3574G>T (p.Ala1192Ser)
|
rs2146000247
|
|
NM_017636.4(TRPM4):c.3584G>C (p.Arg1195Pro)
|
|
|
NM_017636.4(TRPM4):c.3586T>A (p.Ser1196Thr)
|
|
|
NM_017636.4(TRPM4):c.3596T>C (p.Leu1199Pro)
|
|
|
NM_017636.4(TRPM4):c.359C>T (p.Ser120Leu)
|
rs1371723074
|
|
NM_017636.4(TRPM4):c.3607G>A (p.Gly1203Arg)
|
rs916697392
|
|
NM_017636.4(TRPM4):c.3621_3624dup (p.Leu1209Ter)
|
|
|
NM_017636.4(TRPM4):c.3621del (p.Asp1208fs)
|
|
|
NM_017636.4(TRPM4):c.379G>C (p.Gly127Arg)
|
|
|
NM_017636.4(TRPM4):c.395C>G (p.Thr132Ser)
|
rs1008036777
|
|
NM_017636.4(TRPM4):c.3G>C (p.Met1Ile)
|
|
|
NM_017636.4(TRPM4):c.408C>A (p.Asp136Glu)
|
|
|
NM_017636.4(TRPM4):c.427G>C (p.Val143Leu)
|
|
|
NM_017636.4(TRPM4):c.430C>T (p.Arg144Trp)
|
|
|
NM_017636.4(TRPM4):c.479C>T (p.Thr160Met)
|
|
|
NM_017636.4(TRPM4):c.505G>A (p.Ala169Thr)
|
|
|
NM_017636.4(TRPM4):c.508G>A (p.Val170Ile)
|
|
|
NM_017636.4(TRPM4):c.575G>T (p.Gly192Val)
|
|
|
NM_017636.4(TRPM4):c.584G>A (p.Arg195Gln)
|
|
|
NM_017636.4(TRPM4):c.596C>A (p.Thr199Asn)
|
|
|
NM_017636.4(TRPM4):c.623del (p.Pro208fs)
|
rs770203558
|
|
NM_017636.4(TRPM4):c.626C>T (p.Ala209Val)
|
|
|
NM_017636.4(TRPM4):c.641G>T (p.Arg214Leu)
|
|
|
NM_017636.4(TRPM4):c.643G>A (p.Gly215Ser)
|
|
|
NM_017636.4(TRPM4):c.648C>A (p.Asp216Glu)
|
|
|
NM_017636.4(TRPM4):c.667T>C (p.Phe223Leu)
|
|
|
NM_017636.4(TRPM4):c.671C>T (p.Pro224Leu)
|
|
|
NM_017636.4(TRPM4):c.733G>A (p.Gly245Ser)
|
|
|
NM_017636.4(TRPM4):c.734G>A (p.Gly245Asp)
|
|
|
NM_017636.4(TRPM4):c.734dup (p.Glu246fs)
|
|
|
NM_017636.4(TRPM4):c.736G>A (p.Glu246Lys)
|
|
|
NM_017636.4(TRPM4):c.764C>T (p.Ser255Phe)
|
|
|
NM_017636.4(TRPM4):c.785C>T (p.Thr262Met)
|
|
|
NM_017636.4(TRPM4):c.827T>C (p.Leu276Pro)
|
|
|
NM_017636.4(TRPM4):c.830T>C (p.Leu277Pro)
|
|
|
NM_017636.4(TRPM4):c.859-4G>A
|
rs2122833532
|
|
NM_017636.4(TRPM4):c.859C>T (p.Arg287Ter)
|
|
|
NM_017636.4(TRPM4):c.860G>T (p.Arg287Leu)
|
rs200707657
|
|
NM_017636.4(TRPM4):c.901G>A (p.Val301Met)
|
|
|
NM_017636.4(TRPM4):c.910T>A (p.Ser304Thr)
|
|
|
NM_017636.4(TRPM4):c.946G>A (p.Glu316Lys)
|
|
|
NM_017636.4(TRPM4):c.94G>A (p.Gly32Arg)
|
|
|
NM_017636.4(TRPM4):c.977C>T (p.Ala326Val)
|
|
|
NM_017946.4(FKBP14):c.133G>T (p.Gly45Trp)
|
|
|
NM_017946.4(FKBP14):c.134G>A (p.Gly45Glu)
|
|
|
NM_017946.4(FKBP14):c.16T>C (p.Trp6Arg)
|
|
|
NM_017946.4(FKBP14):c.206A>G (p.His69Arg)
|
rs564539430
|
|
NM_017946.4(FKBP14):c.215G>A (p.Gly72Asp)
|
|
|
NM_017946.4(FKBP14):c.223A>G (p.Ile75Val)
|
|
|
NM_017946.4(FKBP14):c.257A>G (p.Lys86Arg)
|
rs543492611
|
|
NM_017946.4(FKBP14):c.265G>A (p.Asp89Asn)
|
|
|
NM_017946.4(FKBP14):c.329G>T (p.Gly110Val)
|
|
|
NM_017946.4(FKBP14):c.365A>G (p.Glu122Gly)
|
|
|
NM_017946.4(FKBP14):c.424G>C (p.Glu142Gln)
|
|
|
NM_017946.4(FKBP14):c.445C>T (p.Leu149Phe)
|
|
|
NM_017946.4(FKBP14):c.493AAG[1] (p.Lys166del)
|
rs542254849
|
|
NM_017946.4(FKBP14):c.512A>G (p.His171Arg)
|
|
|
NM_017946.4(FKBP14):c.52A>T (p.Ile18Phe)
|
|
|
NM_017946.4(FKBP14):c.537T>A (p.His179Gln)
|
|
|
NM_017946.4(FKBP14):c.556G>A (p.Asp186Asn)
|
|
|
NM_017946.4(FKBP14):c.560T>G (p.Ile187Ser)
|
rs773564727
|
|
NM_017946.4(FKBP14):c.589G>A (p.Gly197Arg)
|
|
|
NM_018699.4(PRDM5):c.1003C>G (p.Leu335Val)
|
|
|
NM_018699.4(PRDM5):c.1010G>A (p.Arg337His)
|
|
|
NM_018699.4(PRDM5):c.1013A>G (p.His338Arg)
|
|
|
NM_018699.4(PRDM5):c.1034A>C (p.Lys345Thr)
|
|
|
NM_018699.4(PRDM5):c.1037G>A (p.Arg346Gln)
|
|
|
NM_018699.4(PRDM5):c.103T>C (p.Phe35Leu)
|
|
|
NM_018699.4(PRDM5):c.106G>C (p.Gly36Arg)
|
|
|
NM_018699.4(PRDM5):c.1072A>G (p.Lys358Glu)
|
|
|
NM_018699.4(PRDM5):c.1091G>T (p.Gly364Val)
|
|
|
NM_018699.4(PRDM5):c.1121A>G (p.Lys374Arg)
|
|
|
NM_018699.4(PRDM5):c.1151G>T (p.Gly384Val)
|
|
|
NM_018699.4(PRDM5):c.1165A>C (p.Asn389His)
|
|
|
NM_018699.4(PRDM5):c.1180C>T (p.His394Tyr)
|
|
|
NM_018699.4(PRDM5):c.1189A>G (p.Thr397Ala)
|
|
|
NM_018699.4(PRDM5):c.1208C>T (p.Pro403Leu)
|
|
|
NM_018699.4(PRDM5):c.1212C>G (p.Phe404Leu)
|
|
|
NM_018699.4(PRDM5):c.1226G>A (p.Cys409Tyr)
|
|
|
NM_018699.4(PRDM5):c.1241G>A (p.Arg414Gln)
|
|
|
NM_018699.4(PRDM5):c.1241G>T (p.Arg414Leu)
|
rs753113187
|
|
NM_018699.4(PRDM5):c.1262G>A (p.Arg421Lys)
|
|
|
NM_018699.4(PRDM5):c.12G>T (p.Met4Ile)
|
|
|
NM_018699.4(PRDM5):c.1312G>T (p.Asp438Tyr)
|
|
|
NM_018699.4(PRDM5):c.1332G>C (p.Lys444Asn)
|
|
|
NM_018699.4(PRDM5):c.1351G>A (p.Val451Ile)
|
|
|
NM_018699.4(PRDM5):c.1360G>A (p.Val454Ile)
|
|
|
NM_018699.4(PRDM5):c.1392G>T (p.Glu464Asp)
|
|
|
NM_018699.4(PRDM5):c.1411G>A (p.Val471Ile)
|
|
|
NM_018699.4(PRDM5):c.1443+5G>A
|
|
|
NM_018699.4(PRDM5):c.1477T>C (p.Tyr493His)
|
|
|
NM_018699.4(PRDM5):c.1516G>A (p.Val506Ile)
|
|
|
NM_018699.4(PRDM5):c.1526G>A (p.Arg509Gln)
|
|
|
NM_018699.4(PRDM5):c.1538G>A (p.Gly513Asp)
|
|
|
NM_018699.4(PRDM5):c.1609C>T (p.Arg537Cys)
|
|
|
NM_018699.4(PRDM5):c.1610G>A (p.Arg537His)
|
|
|
NM_018699.4(PRDM5):c.1631C>G (p.Pro544Arg)
|
|
|
NM_018699.4(PRDM5):c.1634A>T (p.Tyr545Phe)
|
|
|
NM_018699.4(PRDM5):c.164G>C (p.Arg55Thr)
|
|
|
NM_018699.4(PRDM5):c.166T>A (p.Leu56Met)
|
|
|
NM_018699.4(PRDM5):c.1697C>T (p.Thr566Met)
|
|
|
NM_018699.4(PRDM5):c.1703C>A (p.Thr568Asn)
|
|
|
NM_018699.4(PRDM5):c.171G>A (p.Met57Ile)
|
|
|
NM_018699.4(PRDM5):c.1725T>G (p.Cys575Trp)
|
|
|
NM_018699.4(PRDM5):c.1751T>A (p.Leu584Gln)
|
|
|
NM_018699.4(PRDM5):c.1804G>A (p.Ala602Thr)
|
|
|
NM_018699.4(PRDM5):c.1862T>C (p.Met621Thr)
|
|
|
NM_018699.4(PRDM5):c.1874A>G (p.His625Arg)
|
|
|
NM_018699.4(PRDM5):c.253G>A (p.Val85Ile)
|
|
|
NM_018699.4(PRDM5):c.295A>G (p.Ile99Val)
|
|
|
NM_018699.4(PRDM5):c.385G>C (p.Glu129Gln)
|
|
|
NM_018699.4(PRDM5):c.386A>C (p.Glu129Ala)
|
|
|
NM_018699.4(PRDM5):c.386A>G (p.Glu129Gly)
|
|
|
NM_018699.4(PRDM5):c.403C>A (p.Gln135Lys)
|
|
|
NM_018699.4(PRDM5):c.412A>G (p.Met138Val)
|
|
|
NM_018699.4(PRDM5):c.466G>A (p.Gly156Ser)
|
|
|
NM_018699.4(PRDM5):c.498C>G (p.Asp166Glu)
|
|
|
NM_018699.4(PRDM5):c.530C>G (p.Thr177Ser)
|
|
|
NM_018699.4(PRDM5):c.58G>C (p.Gly20Arg)
|
|
|
NM_018699.4(PRDM5):c.592G>C (p.Glu198Gln)
|
rs886059043
|
|
NM_018699.4(PRDM5):c.62T>G (p.Met21Arg)
|
|
|
NM_018699.4(PRDM5):c.650+4C>T
|
|
|
NM_018699.4(PRDM5):c.655C>T (p.Leu219Phe)
|
|
|
NM_018699.4(PRDM5):c.689C>T (p.Ser230Phe)
|
|
|
NM_018699.4(PRDM5):c.757C>A (p.Gln253Lys)
|
|
|
NM_018699.4(PRDM5):c.769C>T (p.Arg257Trp)
|
|
|
NM_018699.4(PRDM5):c.76G>A (p.Ala26Thr)
|
|
|
NM_018699.4(PRDM5):c.783G>T (p.Arg261Ser)
|
|
|
NM_018699.4(PRDM5):c.793A>G (p.Lys265Glu)
|
|
|
NM_018699.4(PRDM5):c.7G>T (p.Gly3Cys)
|
|
|
NM_018699.4(PRDM5):c.808G>A (p.Gly270Arg)
|
|
|
NM_018699.4(PRDM5):c.815G>C (p.Arg272Thr)
|
|
|
NM_018699.4(PRDM5):c.830A>C (p.Asp277Ala)
|
|
|
NM_018699.4(PRDM5):c.832G>A (p.Ala278Thr)
|
|
|
NM_018699.4(PRDM5):c.884T>C (p.Leu295Pro)
|
|
|
NM_018699.4(PRDM5):c.898T>C (p.Cys300Arg)
|
|
|
NM_018699.4(PRDM5):c.898T>G (p.Cys300Gly)
|
|
|
NM_020297.4(ABCC9):c.-4A>G
|
|
|
NM_020297.4(ABCC9):c.1012-2A>C
|
|
|
NM_020297.4(ABCC9):c.1012delA (p.Ile338fs)
|
|
|
NM_020297.4(ABCC9):c.1043T>G (p.Leu348Arg)
|
rs876661339
|
|
NM_020297.4(ABCC9):c.1118A>T (p.Tyr373Phe)
|
|
|
NM_020297.4(ABCC9):c.1213A>G (p.Met405Val)
|
|
|
NM_020297.4(ABCC9):c.1256T>C (p.Ile419Thr)
|
rs1186163590
|
|
NM_020297.4(ABCC9):c.1390G>T (p.Val464Leu)
|
|
|
NM_020297.4(ABCC9):c.142+2T>C
|
|
|
NM_020297.4(ABCC9):c.1455+1G>A
|
|
|
NM_020297.4(ABCC9):c.146G>A (p.Trp49Ter)
|
|
|
NM_020297.4(ABCC9):c.146G>T (p.Trp49Leu)
|
|
|
NM_020297.4(ABCC9):c.1592C>G (p.Thr531Ser)
|
|
|
NM_020297.4(ABCC9):c.1680T>G (p.Tyr560Ter)
|
rs1326389765
|
|
NM_020297.4(ABCC9):c.1769C>T (p.Thr590Met)
|
|
|
NM_020297.4(ABCC9):c.1802G>T (p.Ser601Ile)
|
|
|
NM_020297.4(ABCC9):c.1955T>G (p.Leu652Arg)
|
|
|
NM_020297.4(ABCC9):c.1963T>A (p.Tyr655Asn)
|
|
|
NM_020297.4(ABCC9):c.2014A>G (p.Ile672Val)
|
|
|
NM_020297.4(ABCC9):c.2033A>T (p.Tyr678Phe)
|
|
|
NM_020297.4(ABCC9):c.2048G>A (p.Ser683Asn)
|
|
|
NM_020297.4(ABCC9):c.2137T>C (p.Ser713Pro)
|
|
|
NM_020297.4(ABCC9):c.2215C>A (p.Pro739Thr)
|
|
|
NM_020297.4(ABCC9):c.2238-5T>C
|
|
|
NM_020297.4(ABCC9):c.2244C>T (p.Asn748=)
|
|
|
NM_020297.4(ABCC9):c.2245A>T (p.Arg749Trp)
|
rs755331988
|
|
NM_020297.4(ABCC9):c.2285T>G (p.Leu762Ter)
|
rs1555192419
|
|
NM_020297.4(ABCC9):c.232G>A (p.Ala78Thr)
|
|
|
NM_020297.4(ABCC9):c.2363G>A (p.Cys788Tyr)
|
|
|
NM_020297.4(ABCC9):c.2363G>T (p.Cys788Phe)
|
|
|
NM_020297.4(ABCC9):c.2375C>T (p.Pro792Leu)
|
|
|
NM_020297.4(ABCC9):c.2470C>T (p.Arg824Ter)
|
rs779866340
|
|
NM_020297.4(ABCC9):c.2474C>A (p.Ala825Glu)
|
|
|
NM_020297.4(ABCC9):c.2495T>C (p.Ile832Thr)
|
rs542818695
|
|
NM_020297.4(ABCC9):c.2505+4A>C
|
|
|
NM_020297.4(ABCC9):c.2530A>G (p.Ile844Val)
|
|
|
NM_020297.4(ABCC9):c.2556G>C (p.Gln852His)
|
|
|
NM_020297.4(ABCC9):c.2608A>T (p.Thr870Ser)
|
rs1057521460
|
|
NM_020297.4(ABCC9):c.2653A>G (p.Met885Val)
|
|
|
NM_020297.4(ABCC9):c.2723A>G (p.Glu908Gly)
|
|
|
NM_020297.4(ABCC9):c.2768del (p.Lys923fs)
|
rs775677708
|
|
NM_020297.4(ABCC9):c.2795T>G (p.Leu932Ter)
|
rs1469919677
|
|
NM_020297.4(ABCC9):c.2818G>T (p.Ala940Ser)
|
rs1373377020
|
|
NM_020297.4(ABCC9):c.2854G>A (p.Asp952Asn)
|
|
|
NM_020297.4(ABCC9):c.2863G>A (p.Glu955Lys)
|
rs1452956891
|
|
NM_020297.4(ABCC9):c.2886T>G (p.Asp962Glu)
|
|
|
NM_020297.4(ABCC9):c.2898C>G (p.Asn966Lys)
|
|
|
NM_020297.4(ABCC9):c.2946C>G (p.Cys982Trp)
|
|
|
NM_020297.4(ABCC9):c.3004C>T (p.Leu1002Phe)
|
|
|
NM_020297.4(ABCC9):c.3031A>G (p.Ile1011Val)
|
|
|
NM_020297.4(ABCC9):c.3056_3059delinsT (p.Thr1019_Ser1020delinsMet)
|
|
|
NM_020297.4(ABCC9):c.3076A>G (p.Asn1026Asp)
|
rs369389402
|
|
NM_020297.4(ABCC9):c.3131G>A (p.Gly1044Glu)
|
rs1944562961
|
|
NM_020297.4(ABCC9):c.3328_3332delinsC (p.Thr1110fs)
|
|
|
NM_020297.4(ABCC9):c.3364C>G (p.Leu1122Val)
|
|
|
NM_020297.4(ABCC9):c.3470C>G (p.Ser1157Cys)
|
|
|
NM_020297.4(ABCC9):c.352T>C (p.Ser118Pro)
|
|
|
NM_020297.4(ABCC9):c.367C>T (p.His123Tyr)
|
|
|
NM_020297.4(ABCC9):c.3769dup (p.Thr1257fs)
|
|
|
NM_020297.4(ABCC9):c.382T>C (p.Ser128Pro)
|
|
|
NM_020297.4(ABCC9):c.38ATA[1] (p.Asn14del)
|
rs1949498673
|
|
NM_020297.4(ABCC9):c.4015G>T (p.Gly1339Ter)
|
|
|
NM_020297.4(ABCC9):c.407-5T>C
|
rs1948628627
|
|
NM_020297.4(ABCC9):c.4092T>A (p.Asp1364Glu)
|
|
|
NM_020297.4(ABCC9):c.4103-1G>A
|
rs1189432427
|
|
NM_020297.4(ABCC9):c.4257G>C (p.Trp1419Cys)
|
|
|
NM_020297.4(ABCC9):c.4285A>T (p.Asn1429Tyr)
|
rs1178982626
|
|
NM_020297.4(ABCC9):c.4317T>G (p.Asp1439Glu)
|
|
|
NM_020297.4(ABCC9):c.4357C>T (p.Gln1453Ter)
|
|
|
NM_020297.4(ABCC9):c.4393C>G (p.Arg1465Gly)
|
|
|
NM_020297.4(ABCC9):c.4512+732T>A
|
|
|
NM_020297.4(ABCC9):c.4512+733C>A
|
|
|
NM_020297.4(ABCC9):c.4512+743T>G
|
|
|
NM_020297.4(ABCC9):c.4512+744_4512+746delinsAAAT
|
rs869025349
|
|
NM_020297.4(ABCC9):c.4512+777_4512+778delinsAA
|
|
|
NM_020297.4(ABCC9):c.496C>T (p.Arg166Cys)
|
|
|
NM_020297.4(ABCC9):c.4A>G (p.Ser2Gly)
|
rs1485712335
|
|
NM_020297.4(ABCC9):c.511G>A (p.Gly171Ser)
|
|
|
NM_020297.4(ABCC9):c.632T>G (p.Leu211Arg)
|
|
|
NM_020297.4(ABCC9):c.639G>A (p.Val213=)
|
rs1213285317
|
|
NM_020297.4(ABCC9):c.704T>C (p.Ile235Thr)
|
|
|
NM_020297.4(ABCC9):c.743T>C (p.Ile248Thr)
|
|
|
NM_020297.4(ABCC9):c.826G>A (p.Ala276Thr)
|
rs201783967
|
|
NM_020297.4(ABCC9):c.872G>C (p.Arg291Thr)
|
|
|
NM_020297.4(ABCC9):c.990T>A (p.Asn330Lys)
|
|
|
NM_020433.5(JPH2):c.-4T>A
|
|
|
NM_020433.5(JPH2):c.1004A>G (p.His335Arg)
|
|
|
NM_020433.5(JPH2):c.1016G>A (p.Gly339Asp)
|
|
|
NM_020433.5(JPH2):c.101G>A (p.Gly34Asp)
|
|
|
NM_020433.5(JPH2):c.1022A>G (p.Tyr341Cys)
|
|
|
NM_020433.5(JPH2):c.1025G>A (p.Arg342His)
|
|
|
NM_020433.5(JPH2):c.1043A>G (p.Lys348Arg)
|
|
|
NM_020433.5(JPH2):c.1049C>A (p.Thr350Asn)
|
|
|
NM_020433.5(JPH2):c.1054C>T (p.Arg352Cys)
|
|
|
NM_020433.5(JPH2):c.1058G>A (p.Arg353His)
|
|
|
NM_020433.5(JPH2):c.1062G>C (p.Met354Ile)
|
rs546800323
|
|
NM_020433.5(JPH2):c.1066C>T (p.Gln356Ter)
|
|
|
NM_020433.5(JPH2):c.1068G>T (p.Gln356His)
|
|
|
NM_020433.5(JPH2):c.1073A>G (p.Lys358Arg)
|
|
|
NM_020433.5(JPH2):c.107G>A (p.Gly36Asp)
|
|
|
NM_020433.5(JPH2):c.1081A>C (p.Lys361Gln)
|
|
|
NM_020433.5(JPH2):c.1081A>G (p.Lys361Glu)
|
|
|
NM_020433.5(JPH2):c.1087C>T (p.Arg363Cys)
|
|
|
NM_020433.5(JPH2):c.1088G>A (p.Arg363His)
|
rs757549568
|
|
NM_020433.5(JPH2):c.1103A>G (p.His368Arg)
|
|
|
NM_020433.5(JPH2):c.1109T>C (p.Val370Ala)
|
|
|
NM_020433.5(JPH2):c.1115G>A (p.Gly372Asp)
|
|
|
NM_020433.5(JPH2):c.1139C>T (p.Ala380Val)
|
|
|
NM_020433.5(JPH2):c.1142G>A (p.Arg381His)
|
|
|
NM_020433.5(JPH2):c.1148_1156del (p.Lys383_Glu385del)
|
|
|
NM_020433.5(JPH2):c.1171A>G (p.Thr391Ala)
|
|
|
NM_020433.5(JPH2):c.1213G>A (p.Ala405Thr)
|
rs557878787
|
|
NM_020433.5(JPH2):c.1213G>T (p.Ala405Ser)
|
rs557878787
|
|
NM_020433.5(JPH2):c.1232A>C (p.Glu411Ala)
|
|
|
NM_020433.5(JPH2):c.1243G>T (p.Ala415Ser)
|
|
|
NM_020433.5(JPH2):c.1249A>G (p.Thr417Ala)
|
|
|
NM_020433.5(JPH2):c.1309C>T (p.Arg437Trp)
|
|
|
NM_020433.5(JPH2):c.1321G>A (p.Glu441Lys)
|
|
|
NM_020433.5(JPH2):c.1322A>T (p.Glu441Val)
|
|
|
NM_020433.5(JPH2):c.1324A>G (p.Ile442Val)
|
|
|
NM_020433.5(JPH2):c.1328T>C (p.Leu443Pro)
|
|
|
NM_020433.5(JPH2):c.1360G>A (p.Asp454Asn)
|
|
|
NM_020433.5(JPH2):c.1367G>A (p.Gly456Asp)
|
|
|
NM_020433.5(JPH2):c.1396C>T (p.Pro466Ser)
|
|
|
NM_020433.5(JPH2):c.1400G>A (p.Arg467His)
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|
|
NM_020433.5(JPH2):c.1402G>A (p.Glu468Lys)
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|
|
NM_020433.5(JPH2):c.1409C>T (p.Pro470Leu)
|
rs1312283242
|
|
NM_020433.5(JPH2):c.1417C>T (p.His473Tyr)
|
|
|
NM_020433.5(JPH2):c.1438C>T (p.Pro480Ser)
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|
NM_020433.5(JPH2):c.1441G>A (p.Glu481Lys)
|
|
|
NM_020433.5(JPH2):c.1460C>T (p.Pro487Leu)
|
|
|
NM_020433.5(JPH2):c.1477C>T (p.Gln493Ter)
|
rs2072190444
|
|
NM_020433.5(JPH2):c.1487G>A (p.Arg496Gln)
|
rs1404072085
|
|
NM_020433.5(JPH2):c.1550G>A (p.Ser517Asn)
|
|
|
NM_020433.5(JPH2):c.1551C>A (p.Ser517Arg)
|
rs1295638660
|
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NM_020433.5(JPH2):c.1552G>A (p.Gly518Ser)
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|
|
NM_020433.5(JPH2):c.1598G>A (p.Arg533His)
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|
|
NM_020433.5(JPH2):c.1603C>T (p.Pro535Ser)
|
rs908217758
|
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NM_020433.5(JPH2):c.1622A>G (p.Glu541Gly)
|
|
|
NM_020433.5(JPH2):c.1624C>T (p.Arg542Cys)
|
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|
NM_020433.5(JPH2):c.1625G>A (p.Arg542His)
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|
NM_020433.5(JPH2):c.1625G>T (p.Arg542Leu)
|
rs369279135
|
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NM_020433.5(JPH2):c.1648G>T (p.Ala550Ser)
|
|
|
NM_020433.5(JPH2):c.1655C>T (p.Pro552Leu)
|
rs876657833
|
|
NM_020433.5(JPH2):c.1661C>T (p.Pro554Leu)
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|
|
NM_020433.5(JPH2):c.1666C>G (p.Arg556Gly)
|
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|
NM_020433.5(JPH2):c.1666C>T (p.Arg556Trp)
|
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|
NM_020433.5(JPH2):c.1676A>C (p.Glu559Ala)
|
|
|
NM_020433.5(JPH2):c.1682C>T (p.Ala561Val)
|
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|
NM_020433.5(JPH2):c.1689C>G (p.Tyr563Ter)
|
|
|
NM_020433.5(JPH2):c.1699dup (p.His567fs)
|
|
|
NM_020433.5(JPH2):c.1714C>T (p.Arg572Cys)
|
rs377366285
|
|
NM_020433.5(JPH2):c.1724C>T (p.Pro575Leu)
|
rs1310645221
|
|
NM_020433.5(JPH2):c.1736C>G (p.Pro579Arg)
|
|
|
NM_020433.5(JPH2):c.1754C>T (p.Pro585Leu)
|
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NM_020433.5(JPH2):c.1756G>A (p.Glu586Lys)
|
|
|
NM_020433.5(JPH2):c.1759_1779dup (p.Pro587_Glu593dup)
|
rs774773499
|
|
NM_020433.5(JPH2):c.1772_1777dup (p.Ser592_Glu593insGlySer)
|
|
|
NM_020433.5(JPH2):c.1778A>G (p.Glu593Gly)
|
rs1569180881
|
|
NM_020433.5(JPH2):c.1796C>G (p.Pro599Arg)
|
|
|
NM_020433.5(JPH2):c.1796C>T (p.Pro599Leu)
|
|
|
NM_020433.5(JPH2):c.1799C>G (p.Ala600Gly)
|
rs1555853297
|
|
NM_020433.5(JPH2):c.1804G>A (p.Ala602Thr)
|
|
|
NM_020433.5(JPH2):c.1813C>G (p.Gln605Glu)
|
|
|
NM_020433.5(JPH2):c.1823C>A (p.Thr608Lys)
|
rs750776027
|
|
NM_020433.5(JPH2):c.1837G>A (p.Glu613Lys)
|
|
|
NM_020433.5(JPH2):c.1844C>T (p.Ala615Val)
|
|
|
NM_020433.5(JPH2):c.1853C>A (p.Thr618Asn)
|
|
|
NM_020433.5(JPH2):c.1861A>G (p.Lys621Glu)
|
|
|
NM_020433.5(JPH2):c.1900A>G (p.Arg634Gly)
|
|
|
NM_020433.5(JPH2):c.1903G>C (p.Ala635Pro)
|
rs1409841420
|
|
NM_020433.5(JPH2):c.1924G>A (p.Ala642Thr)
|
|
|
NM_020433.5(JPH2):c.1928G>C (p.Arg643Pro)
|
|
|
NM_020433.5(JPH2):c.1937C>G (p.Thr646Ser)
|
rs1600828763
|
|
NM_020433.5(JPH2):c.1951AAG[2] (p.Lys653del)
|
rs111666278
|
|
NM_020433.5(JPH2):c.1958A>C (p.Lys653Thr)
|
|
|
NM_020433.5(JPH2):c.1961C>G (p.Ala654Gly)
|
|
|
NM_020433.5(JPH2):c.1964G>A (p.Arg655Gln)
|
rs1569180563
|
|
NM_020433.5(JPH2):c.1982C>T (p.Ala661Val)
|
|
|
NM_020433.5(JPH2):c.1984G>T (p.Ala662Ser)
|
|
|
NM_020433.5(JPH2):c.1987G>C (p.Glu663Gln)
|
rs886039170
|
|
NM_020433.5(JPH2):c.1990G>T (p.Ala664Ser)
|
|
|
NM_020433.5(JPH2):c.2010+5G>C
|
|
|
NM_020433.5(JPH2):c.2011G>A (p.Val671Ile)
|
|
|
NM_020433.5(JPH2):c.2015C>T (p.Pro672Leu)
|
|
|
NM_020433.5(JPH2):c.202A>C (p.Lys68Gln)
|
|
|
NM_020433.5(JPH2):c.2056G>A (p.Gly686Ser)
|
|
|
NM_020433.5(JPH2):c.205C>T (p.Arg69Trp)
|
|
|
NM_020433.5(JPH2):c.2073_2074inv (p.Val692Ile)
|
|
|
NM_020433.5(JPH2):c.2074G>A (p.Val692Ile)
|
|
|
NM_020433.5(JPH2):c.2078A>T (p.His693Leu)
|
|
|
NM_020433.5(JPH2):c.2083_2084del (p.Leu695fs)
|
|
|
NM_020433.5(JPH2):c.235C>A (p.Arg79Ser)
|
|
|
NM_020433.5(JPH2):c.23T>C (p.Phe8Ser)
|
rs2072848592
|
|
NM_020433.5(JPH2):c.245A>G (p.Tyr82Cys)
|
rs774330827
|
|
NM_020433.5(JPH2):c.253G>A (p.Glu85Lys)
|
|
|
NM_020433.5(JPH2):c.272A>G (p.Lys91Arg)
|
|
|
NM_020433.5(JPH2):c.283G>A (p.Gly95Arg)
|
|
|
NM_020433.5(JPH2):c.304A>T (p.Ser102Cys)
|
|
|
NM_020433.5(JPH2):c.307G>T (p.Gly103Cys)
|
|
|
NM_020433.5(JPH2):c.316T>C (p.Tyr106His)
|
|
|
NM_020433.5(JPH2):c.349_351del (p.Gly117del)
|
rs1351653670
|
|
NM_020433.5(JPH2):c.350G>A (p.Gly117Asp)
|
rs1289294595
|
|
NM_020433.5(JPH2):c.361G>A (p.Glu121Lys)
|
rs1569226231
|
|
NM_020433.5(JPH2):c.363G>T (p.Glu121Asp)
|
|
|
NM_020433.5(JPH2):c.370G>A (p.Ala124Thr)
|
|
|
NM_020433.5(JPH2):c.373G>A (p.Asp125Asn)
|
|
|
NM_020433.5(JPH2):c.421T>A (p.Tyr141Asn)
|
|
|
NM_020433.5(JPH2):c.424G>T (p.Gly142Ter)
|
rs765874503
|
|
NM_020433.5(JPH2):c.430C>T (p.Arg144Cys)
|
|
|
NM_020433.5(JPH2):c.431G>A (p.Arg144His)
|
rs1167554487
|
|
NM_020433.5(JPH2):c.448G>C (p.Gly150Arg)
|
rs1231304653
|
|
NM_020433.5(JPH2):c.464T>C (p.Val155Ala)
|
rs2072601326
|
|
NM_020433.5(JPH2):c.470C>T (p.Ser157Leu)
|
|
|
NM_020433.5(JPH2):c.476T>A (p.Leu159Gln)
|
rs886038834
|
|
NM_020433.5(JPH2):c.479G>A (p.Arg160His)
|
|
|
NM_020433.5(JPH2):c.499C>T (p.Arg167Cys)
|
|
|
NM_020433.5(JPH2):c.50G>T (p.Gly17Val)
|
|
|
NM_020433.5(JPH2):c.52T>A (p.Trp18Arg)
|
|
|
NM_020433.5(JPH2):c.547C>G (p.Pro183Ala)
|
|
|
NM_020433.5(JPH2):c.560G>A (p.Gly187Asp)
|
|
|
NM_020433.5(JPH2):c.57G>T (p.Glu19Asp)
|
|
|
NM_020433.5(JPH2):c.580G>T (p.Ala194Ser)
|
rs914203878
|
|
NM_020433.5(JPH2):c.589C>T (p.Arg197Cys)
|
|
|
NM_020433.5(JPH2):c.58G>C (p.Gly20Arg)
|
|
|
NM_020433.5(JPH2):c.58G>T (p.Gly20Trp)
|
|
|
NM_020433.5(JPH2):c.590G>T (p.Arg197Leu)
|
rs1258920337
|
|
NM_020433.5(JPH2):c.591_593dup (p.Gly199_Phe200insGly)
|
|
|
NM_020433.5(JPH2):c.595G>A (p.Gly199Ser)
|
|
|
NM_020433.5(JPH2):c.599T>C (p.Phe200Ser)
|
|
|
NM_020433.5(JPH2):c.629C>A (p.Ala210Glu)
|
|
|
NM_020433.5(JPH2):c.632C>T (p.Ala211Val)
|
|
|
NM_020433.5(JPH2):c.643C>G (p.Pro215Ala)
|
|
|
NM_020433.5(JPH2):c.649G>A (p.Gly217Ser)
|
rs1346458604
|
|
NM_020433.5(JPH2):c.652G>A (p.Gly218Ser)
|
|
|
NM_020433.5(JPH2):c.655G>A (p.Gly219Ser)
|
|
|
NM_020433.5(JPH2):c.658C>T (p.Leu220Phe)
|
|
|
NM_020433.5(JPH2):c.67G>A (p.Ala23Thr)
|
|
|
NM_020433.5(JPH2):c.68C>T (p.Ala23Val)
|
|
|
NM_020433.5(JPH2):c.713C>T (p.Ser238Phe)
|
|
|
NM_020433.5(JPH2):c.736G>A (p.Val246Ile)
|
|
|
NM_020433.5(JPH2):c.752G>A (p.Ser251Asn)
|
|
|
NM_020433.5(JPH2):c.753C>G (p.Ser251Arg)
|
|
|
NM_020433.5(JPH2):c.758T>A (p.Leu253His)
|
|
|
NM_020433.5(JPH2):c.775G>A (p.Asp259Asn)
|
|
|
NM_020433.5(JPH2):c.791C>G (p.Ala264Gly)
|
|
|
NM_020433.5(JPH2):c.800G>A (p.Gly267Glu)
|
|
|
NM_020433.5(JPH2):c.817G>A (p.Ala273Thr)
|
|
|
NM_020433.5(JPH2):c.823G>A (p.Glu275Lys)
|
|
|
NM_020433.5(JPH2):c.823G>C (p.Glu275Gln)
|
|
|
NM_020433.5(JPH2):c.852C>A (p.Asp284Glu)
|
rs747209399
|
|
NM_020433.5(JPH2):c.862A>G (p.Thr288Ala)
|
|
|
NM_020433.5(JPH2):c.869C>T (p.Thr290Ile)
|
rs757257639
|
|
NM_020433.5(JPH2):c.919G>A (p.Glu307Lys)
|
rs866434937
|
|
NM_020433.5(JPH2):c.92G>A (p.Gly31Asp)
|
rs1569226648
|
|
NM_020433.5(JPH2):c.949G>A (p.Glu317Lys)
|
rs1054295023
|
|
NM_020778.4(ALPK3):c.-1A>T
|
|
|
NM_020778.4(ALPK3):c.-3C>T
|
|
|
NM_020778.4(ALPK3):c.102G>A (p.Trp34Ter)
|
|
|
NM_020778.4(ALPK3):c.110G>A (p.Gly37Asp)
|
|
|
NM_020778.4(ALPK3):c.112C>A (p.Leu38Ile)
|
|
|
NM_020778.4(ALPK3):c.119G>A (p.Arg40Gln)
|
|
|
NM_020778.4(ALPK3):c.128C>A (p.Pro43Gln)
|
|
|
NM_020778.4(ALPK3):c.130A>T (p.Ser44Cys)
|
|
|
NM_020778.4(ALPK3):c.145G>A (p.Asp49Asn)
|
|
|
NM_020778.4(ALPK3):c.151G>C (p.Ala51Pro)
|
|
|
NM_020778.4(ALPK3):c.157C>G (p.Leu53Val)
|
|
|
NM_020778.4(ALPK3):c.175C>T (p.Arg59Cys)
|
|
|
NM_020778.4(ALPK3):c.184C>T (p.Leu62Phe)
|
|
|
NM_020778.4(ALPK3):c.194A>T (p.His65Leu)
|
|
|
NM_020778.4(ALPK3):c.199G>A (p.Gly67Arg)
|
|
|
NM_020778.4(ALPK3):c.208C>A (p.Gln70Lys)
|
|
|
NM_020778.4(ALPK3):c.223C>T (p.Pro75Ser)
|
|
|
NM_020778.4(ALPK3):c.230C>T (p.Pro77Leu)
|
|
|
NM_020778.4(ALPK3):c.237C>A (p.Ser79Arg)
|
|
|
NM_020778.4(ALPK3):c.250C>T (p.Pro84Ser)
|
|
|
NM_020778.4(ALPK3):c.257T>G (p.Leu86Arg)
|
rs369860557
|
|
NM_020778.4(ALPK3):c.266A>G (p.Gln89Arg)
|
|
|
NM_020778.4(ALPK3):c.274C>A (p.Arg92Ser)
|
|
|
NM_020778.4(ALPK3):c.287T>C (p.Leu96Pro)
|
|
|
NM_020778.4(ALPK3):c.394C>T (p.Pro132Ser)
|
|
|
NM_020778.4(ALPK3):c.398C>T (p.Pro133Leu)
|
|
|
NM_020778.4(ALPK3):c.399dup (p.Gly134Argfs)
|
rs769496975
|
|
NM_020778.4(ALPK3):c.400G>A (p.Gly134Ser)
|
|
|
NM_020778.4(ALPK3):c.419G>C (p.Cys140Ser)
|
|
|
NM_020778.4(ALPK3):c.431C>T (p.Ala144Val)
|
|
|
NM_020778.4(ALPK3):c.437C>G (p.Pro146Arg)
|
|
|
NM_020778.4(ALPK3):c.437C>T (p.Pro146Leu)
|
|
|
NM_020778.4(ALPK3):c.457G>A (p.Val153Met)
|
|
|
NM_020778.4(ALPK3):c.467C>G (p.Ala156Gly)
|
|
|
NM_020778.4(ALPK3):c.490G>C (p.Gly164Arg)
|
|
|
NM_020778.4(ALPK3):c.494C>T (p.Ala165Val)
|
|
|
NM_020778.4(ALPK3):c.499C>T (p.Gln167Ter)
|
|
|
NM_020778.4(ALPK3):c.71G>A (p.Arg24Gln)
|
|
|
NM_020778.4(ALPK3):c.79C>T (p.Pro27Ser)
|
|
|
NM_020778.4(ALPK3):c.80C>T (p.Pro27Leu)
|
|
|
NM_020778.4(ALPK3):c.95T>A (p.Val32Asp)
|
|
|
NM_020778.5(ALPK3):c.-23C>T
|
|
|
NM_020778.5(ALPK3):c.-27G>C
|
|
|
NM_020778.5(ALPK3):c.-36G>A
|
|
|
NM_020778.5(ALPK3):c.-66del
|
rs974266035
|
|
NM_020778.5(ALPK3):c.-69G>A
|
|
|
NM_020778.5(ALPK3):c.-74G>T
|
rs1444549839
|
|
NM_020778.5(ALPK3):c.-83C>T
|
|
|
NM_020778.5(ALPK3):c.1016G>A (p.Arg339His)
|
|
|
NM_020778.5(ALPK3):c.1024T>C (p.Ser342Pro)
|
|
|
NM_020778.5(ALPK3):c.1043G>A (p.Ser348Asn)
|
rs2141556874
|
|
NM_020778.5(ALPK3):c.1054C>T (p.Pro352Ser)
|
|
|
NM_020778.5(ALPK3):c.1061C>T (p.Ser354Phe)
|
|
|
NM_020778.5(ALPK3):c.1096G>T (p.Val366Phe)
|
|
|
NM_020778.5(ALPK3):c.110G>A (p.Arg37Gln)
|
|
|
NM_020778.5(ALPK3):c.1145G>T (p.Gly382Val)
|
|
|
NM_020778.5(ALPK3):c.1163A>T (p.Lys388Met)
|
|
|
NM_020778.5(ALPK3):c.1177G>C (p.Val393Leu)
|
|
|
NM_020778.5(ALPK3):c.1186C>T (p.Pro396Ser)
|
|
|
NM_020778.5(ALPK3):c.1192A>G (p.Lys398Glu)
|
|
|
NM_020778.5(ALPK3):c.126C>A (p.Ser42Arg)
|
rs909121019
|
|
NM_020778.5(ALPK3):c.1285C>T (p.Leu429Phe)
|
|
|
NM_020778.5(ALPK3):c.1288G>T (p.Gly430Trp)
|
rs2141557079
|
|
NM_020778.5(ALPK3):c.1289G>C (p.Gly430Ala)
|
|
|
NM_020778.5(ALPK3):c.1303C>A (p.Gln435Lys)
|
|
|
NM_020778.5(ALPK3):c.1307C>A (p.Thr436Asn)
|
|
|
NM_020778.5(ALPK3):c.1318C>T (p.Arg440Trp)
|
|
|
NM_020778.5(ALPK3):c.135_143+12del
|
|
|
NM_020778.5(ALPK3):c.1373G>A (p.Gly458Glu)
|
|
|
NM_020778.5(ALPK3):c.1406C>T (p.Ser469Phe)
|
|
|
NM_020778.5(ALPK3):c.1433T>A (p.Phe478Tyr)
|
|
|
NM_020778.5(ALPK3):c.144-2A>G
|
|
|
NM_020778.5(ALPK3):c.1473G>C (p.Glu491Asp)
|
|
|
NM_020778.5(ALPK3):c.1492C>T (p.Pro498Ser)
|
|
|
NM_020778.5(ALPK3):c.1508G>A (p.Ser503Asn)
|
|
|
NM_020778.5(ALPK3):c.1525G>A (p.Gly509Arg)
|
|
|
NM_020778.5(ALPK3):c.1528G>T (p.Ala510Ser)
|
|
|
NM_020778.5(ALPK3):c.1573C>G (p.Pro525Ala)
|
|
|
NM_020778.5(ALPK3):c.157C>T (p.Arg53Trp)
|
|
|
NM_020778.5(ALPK3):c.1589G>T (p.Arg530Leu)
|
|
|
NM_020778.5(ALPK3):c.1594A>G (p.Arg532Gly)
|
rs775263709
|
|
NM_020778.5(ALPK3):c.1598A>T (p.His533Leu)
|
|
|
NM_020778.5(ALPK3):c.1604C>T (p.Thr535Ile)
|
|
|
NM_020778.5(ALPK3):c.1633G>A (p.Gly545Ser)
|
|
|
NM_020778.5(ALPK3):c.1653G>C (p.Glu551Asp)
|
|
|
NM_020778.5(ALPK3):c.1669A>C (p.Thr557Pro)
|
|
|
NM_020778.5(ALPK3):c.1678G>A (p.Ala560Thr)
|
|
|
NM_020778.5(ALPK3):c.1681C>T (p.Pro561Ser)
|
|
|
NM_020778.5(ALPK3):c.1682C>T (p.Pro561Leu)
|
|
|
NM_020778.5(ALPK3):c.1685C>T (p.Thr562Ile)
|
rs772032580
|
|
NM_020778.5(ALPK3):c.1688T>G (p.Met563Arg)
|
rs150028343
|
|
NM_020778.5(ALPK3):c.1698C>G (p.Ser566Arg)
|
|
|
NM_020778.5(ALPK3):c.16G>C (p.Ala6Pro)
|
|
|
NM_020778.5(ALPK3):c.1711G>A (p.Val571Ile)
|
|
|
NM_020778.5(ALPK3):c.1733C>G (p.Thr578Ser)
|
|
|
NM_020778.5(ALPK3):c.1756G>A (p.Glu586Lys)
|
|
|
NM_020778.5(ALPK3):c.1795T>C (p.Ser599Pro)
|
|
|
NM_020778.5(ALPK3):c.1801A>T (p.Asn601Tyr)
|
|
|
NM_020778.5(ALPK3):c.1818C>G (p.Ser606Arg)
|
|
|
NM_020778.5(ALPK3):c.1838A>T (p.Asp613Val)
|
|
|
NM_020778.5(ALPK3):c.1840_1908dup (p.Asp636_Arg637insGlyLysIleGlnValAspGlyArgThrArgGlyAspGlyThrGlnThrAlaGlnArgThrArgAlaAsp)
|
|
|
NM_020778.5(ALPK3):c.1856A>T (p.Asp619Val)
|
|
|
NM_020778.5(ALPK3):c.1901G>A (p.Arg634His)
|
rs34906636
|
|
NM_020778.5(ALPK3):c.1928C>T (p.Ala643Val)
|
|
|
NM_020778.5(ALPK3):c.1977G>C (p.Lys659Asn)
|
|
|
NM_020778.5(ALPK3):c.1982T>C (p.Met661Thr)
|
|
|
NM_020778.5(ALPK3):c.19C>A (p.Pro7Thr)
|
rs1963372992
|
|
NM_020778.5(ALPK3):c.2043G>C (p.Gln681His)
|
|
|
NM_020778.5(ALPK3):c.2054A>G (p.Lys685Arg)
|
|
|
NM_020778.5(ALPK3):c.2065G>T (p.Asp689Tyr)
|
|
|
NM_020778.5(ALPK3):c.206C>A (p.Ala69Asp)
|
|
|
NM_020778.5(ALPK3):c.206C>T (p.Ala69Val)
|
rs966823226
|
|
NM_020778.5(ALPK3):c.2093TGCAGGGAGAGAAGGGGA[1] (p.698MQGEKG[1])
|
rs759322802
|
|
NM_020778.5(ALPK3):c.2114A>G (p.Gln705Arg)
|
|
|
NM_020778.5(ALPK3):c.2129C>T (p.Thr710Met)
|
|
|
NM_020778.5(ALPK3):c.2158A>T (p.Met720Leu)
|
|
|
NM_020778.5(ALPK3):c.215C>G (p.Thr72Arg)
|
|
|
NM_020778.5(ALPK3):c.215C>T (p.Thr72Ile)
|
rs781502917
|
|
NM_020778.5(ALPK3):c.2185G>A (p.Ala729Thr)
|
|
|
NM_020778.5(ALPK3):c.220G>A (p.Glu74Lys)
|
|
|
NM_020778.5(ALPK3):c.2239C>T (p.Pro747Ser)
|
|
|
NM_020778.5(ALPK3):c.2269G>A (p.Val757Ile)
|
|
|
NM_020778.5(ALPK3):c.2284G>A (p.Gly762Arg)
|
|
|
NM_020778.5(ALPK3):c.2291G>A (p.Cys764Tyr)
|
|
|
NM_020778.5(ALPK3):c.2342C>T (p.Thr781Ile)
|
|
|
NM_020778.5(ALPK3):c.2344G>A (p.Ala782Thr)
|
|
|
NM_020778.5(ALPK3):c.2344_2345delinsAT (p.Ala782Ile)
|
|
|
NM_020778.5(ALPK3):c.2345C>T (p.Ala782Val)
|
|
|
NM_020778.5(ALPK3):c.2363A>G (p.Gln788Arg)
|
|
|
NM_020778.5(ALPK3):c.2366C>G (p.Thr789Ser)
|
|
|
NM_020778.5(ALPK3):c.2393T>C (p.Leu798Pro)
|
rs1002796135
|
|
NM_020778.5(ALPK3):c.2414C>T (p.Pro805Leu)
|
|
|
NM_020778.5(ALPK3):c.2434C>A (p.Gln812Lys)
|
|
|
NM_020778.5(ALPK3):c.2443G>A (p.Gly815Arg)
|
|
|
NM_020778.5(ALPK3):c.2465A>G (p.Gln822Arg)
|
|
|
NM_020778.5(ALPK3):c.2497G>T (p.Asp833Tyr)
|
rs2141567926
|
|
NM_020778.5(ALPK3):c.2510A>T (p.Gln837Leu)
|
rs1057524086
|
|
NM_020778.5(ALPK3):c.2536G>A (p.Gly846Arg)
|
|
|
NM_020778.5(ALPK3):c.2557G>A (p.Gly853Ser)
|
|
|
NM_020778.5(ALPK3):c.257G>A (p.Arg86Gln)
|
|
|
NM_020778.5(ALPK3):c.259T>C (p.Ser87Pro)
|
|
|
NM_020778.5(ALPK3):c.2611C>T (p.Pro871Ser)
|
rs1439652574
|
|
NM_020778.5(ALPK3):c.2620G>A (p.Gly874Arg)
|
|
|
NM_020778.5(ALPK3):c.262G>A (p.Val88Met)
|
|
|
NM_020778.5(ALPK3):c.2659C>T (p.Pro887Ser)
|
|
|
NM_020778.5(ALPK3):c.2678G>A (p.Ser893Asn)
|
|
|
NM_020778.5(ALPK3):c.268G>A (p.Glu90Lys)
|
rs780318912
|
|
NM_020778.5(ALPK3):c.268G>C (p.Glu90Gln)
|
|
|
NM_020778.5(ALPK3):c.2707C>A (p.Gln903Lys)
|
|
|
NM_020778.5(ALPK3):c.270G>C (p.Glu90Asp)
|
|
|
NM_020778.5(ALPK3):c.2728C>T (p.Pro910Ser)
|
|
|
NM_020778.5(ALPK3):c.2737C>T (p.His913Tyr)
|
rs2141568220
|
|
NM_020778.5(ALPK3):c.2749G>A (p.Gly917Arg)
|
|
|
NM_020778.5(ALPK3):c.2759C>T (p.Thr920Ile)
|
|
|
NM_020778.5(ALPK3):c.2764A>C (p.Ser922Arg)
|
|
|
NM_020778.5(ALPK3):c.2770C>G (p.Pro924Ala)
|
|
|
NM_020778.5(ALPK3):c.2770_2771delinsGA (p.Pro924Glu)
|
|
|
NM_020778.5(ALPK3):c.2771C>A (p.Pro924Gln)
|
|
|
NM_020778.5(ALPK3):c.2771C>T (p.Pro924Leu)
|
rs1346027337
|
|
NM_020778.5(ALPK3):c.2785G>A (p.Ala929Thr)
|
|
|
NM_020778.5(ALPK3):c.2809G>A (p.Ala937Thr)
|
|
|
NM_020778.5(ALPK3):c.2821G>C (p.Asp941His)
|
|
|
NM_020778.5(ALPK3):c.2822A>T (p.Asp941Val)
|
|
|
NM_020778.5(ALPK3):c.2825T>A (p.Val942Glu)
|
|
|
NM_020778.5(ALPK3):c.2833C>T (p.Arg945Trp)
|
|
|
NM_020778.5(ALPK3):c.2834G>A (p.Arg945Gln)
|
rs377166800
|
|
NM_020778.5(ALPK3):c.2842G>A (p.Gly948Ser)
|
rs1217503979
|
|
NM_020778.5(ALPK3):c.2842G>T (p.Gly948Cys)
|
|
|
NM_020778.5(ALPK3):c.2860C>T (p.Pro954Ser)
|
|
|
NM_020778.5(ALPK3):c.2896CTG[2] (p.Leu968del)
|
|
|
NM_020778.5(ALPK3):c.289A>G (p.Thr97Ala)
|
|
|
NM_020778.5(ALPK3):c.28G>A (p.Gly10Ser)
|
|
|
NM_020778.5(ALPK3):c.2915G>A (p.Ser972Asn)
|
|
|
NM_020778.5(ALPK3):c.2923A>T (p.Thr975Ser)
|
|
|
NM_020778.5(ALPK3):c.2929G>A (p.Gly977Arg)
|
|
|
NM_020778.5(ALPK3):c.293G>A (p.Cys98Tyr)
|
|
|
NM_020778.5(ALPK3):c.2995C>T (p.Pro999Ser)
|
|
|
NM_020778.5(ALPK3):c.3007G>A (p.Val1003Met)
|
|
|
NM_020778.5(ALPK3):c.3017T>G (p.Leu1006Arg)
|
rs1963884081
|
|
NM_020778.5(ALPK3):c.3019A>C (p.Ser1007Arg)
|
|
|
NM_020778.5(ALPK3):c.3023C>T (p.Pro1008Leu)
|
|
|
NM_020778.5(ALPK3):c.3028A>G (p.Thr1010Ala)
|
|
|
NM_020778.5(ALPK3):c.3037C>T (p.Arg1013Cys)
|
rs142109538
|
|
NM_020778.5(ALPK3):c.3041T>C (p.Ile1014Thr)
|
|
|
NM_020778.5(ALPK3):c.305-3C>T
|
|
|
NM_020778.5(ALPK3):c.3067C>G (p.Leu1023Val)
|
|
|
NM_020778.5(ALPK3):c.3136C>T (p.Arg1046Cys)
|
rs34414438
|
|
NM_020778.5(ALPK3):c.3163C>G (p.Leu1055Val)
|
|
|
NM_020778.5(ALPK3):c.3163C>T (p.Leu1055Phe)
|
|
|
NM_020778.5(ALPK3):c.3172G>A (p.Ala1058Thr)
|
|
|
NM_020778.5(ALPK3):c.317C>G (p.Pro106Arg)
|
|
|
NM_020778.5(ALPK3):c.3196C>T (p.Pro1066Ser)
|
|
|
NM_020778.5(ALPK3):c.3231C>G (p.Asp1077Glu)
|
|
|
NM_020778.5(ALPK3):c.3260G>T (p.Gly1087Val)
|
|
|
NM_020778.5(ALPK3):c.3284T>C (p.Val1095Ala)
|
|
|
NM_020778.5(ALPK3):c.3287C>G (p.Ser1096Cys)
|
|
|
NM_020778.5(ALPK3):c.3289C>T (p.Pro1097Ser)
|
|
|
NM_020778.5(ALPK3):c.3289_3290delinsTT (p.Pro1097Phe)
|
rs2141568853
|
|
NM_020778.5(ALPK3):c.328T>A (p.Trp110Arg)
|
|
|
NM_020778.5(ALPK3):c.328T>C (p.Trp110Arg)
|
|
|
NM_020778.5(ALPK3):c.3338G>T (p.Gly1113Val)
|
|
|
NM_020778.5(ALPK3):c.3347G>A (p.Gly1116Glu)
|
|
|
NM_020778.5(ALPK3):c.3370C>T (p.Pro1124Ser)
|
|
|
NM_020778.5(ALPK3):c.3377A>G (p.Gln1126Arg)
|
|
|
NM_020778.5(ALPK3):c.3406G>A (p.Glu1136Lys)
|
|
|
NM_020778.5(ALPK3):c.3410C>T (p.Pro1137Leu)
|
|
|
NM_020778.5(ALPK3):c.3419A>T (p.Glu1140Val)
|
|
|
NM_020778.5(ALPK3):c.3423G>T (p.Glu1141Asp)
|
|
|
NM_020778.5(ALPK3):c.3425A>G (p.Lys1142Arg)
|
|
|
NM_020778.5(ALPK3):c.3450_3451delinsCT (p.Leu1151Phe)
|
rs2141569156
|
|
NM_020778.5(ALPK3):c.3452T>A (p.Leu1151His)
|
|
|
NM_020778.5(ALPK3):c.3464C>T (p.Thr1155Ile)
|
|
|
NM_020778.5(ALPK3):c.3472G>A (p.Glu1158Lys)
|
|
|
NM_020778.5(ALPK3):c.3487G>A (p.Ala1163Thr)
|
rs372770939
|
|
NM_020778.5(ALPK3):c.3505C>T (p.Leu1169Phe)
|
|
|
NM_020778.5(ALPK3):c.3523G>A (p.Ala1175Thr)
|
|
|
NM_020778.5(ALPK3):c.352G>A (p.Asp118Asn)
|
|
|
NM_020778.5(ALPK3):c.3531C>G (p.Asp1177Glu)
|
rs115438635
|
|
NM_020778.5(ALPK3):c.3550G>A (p.Glu1184Lys)
|
|
|
NM_020778.5(ALPK3):c.3575C>T (p.Ser1192Phe)
|
|
|
NM_020778.5(ALPK3):c.3581G>A (p.Arg1194Gln)
|
rs543260061
|
|
NM_020778.5(ALPK3):c.3584G>A (p.Gly1195Glu)
|
|
|
NM_020778.5(ALPK3):c.3604C>T (p.Pro1202Ser)
|
|
|
NM_020778.5(ALPK3):c.3619A>C (p.Thr1207Pro)
|
|
|
NM_020778.5(ALPK3):c.3682C>G (p.Arg1228Gly)
|
rs537104966
|
|
NM_020778.5(ALPK3):c.3682C>T (p.Arg1228Trp)
|
rs537104966
|
|
NM_020778.5(ALPK3):c.3688GAG[2] (p.Glu1232del)
|
|
|
NM_020778.5(ALPK3):c.371C>A (p.Pro124Gln)
|
|
|
NM_020778.5(ALPK3):c.3722G>T (p.Ser1241Ile)
|
|
|
NM_020778.5(ALPK3):c.3794G>A (p.Arg1265Lys)
|
|
|
NM_020778.5(ALPK3):c.3816A>T (p.Lys1272Asn)
|
|
|
NM_020778.5(ALPK3):c.3821C>T (p.Pro1274Leu)
|
|
|
NM_020778.5(ALPK3):c.3826G>A (p.Val1276Met)
|
|
|
NM_020778.5(ALPK3):c.3856C>T (p.Pro1286Ser)
|
|
|
NM_020778.5(ALPK3):c.38C>G (p.Ala13Gly)
|
|
|
NM_020778.5(ALPK3):c.3916G>A (p.Val1306Ile)
|
|
|
NM_020778.5(ALPK3):c.393G>C (p.Gln131His)
|
|
|
NM_020778.5(ALPK3):c.3951C>T (p.Gly1317=)
|
|
|
NM_020778.5(ALPK3):c.3965+2T>C
|
|
|
NM_020778.5(ALPK3):c.3965+5G>A
|
|
|
NM_020778.5(ALPK3):c.3974A>T (p.Asp1325Val)
|
|
|
NM_020778.5(ALPK3):c.3994G>A (p.Ala1332Thr)
|
|
|
NM_020778.5(ALPK3):c.3997A>G (p.Ile1333Val)
|
|
|
NM_020778.5(ALPK3):c.3G>A (p.Met1Ile)
|
|
|
NM_020778.5(ALPK3):c.4013C>G (p.Pro1338Arg)
|
|
|
NM_020778.5(ALPK3):c.4021T>C (p.Cys1341Arg)
|
|
|
NM_020778.5(ALPK3):c.4037G>A (p.Cys1346Tyr)
|
|
|
NM_020778.5(ALPK3):c.4043T>C (p.Ile1348Thr)
|
|
|
NM_020778.5(ALPK3):c.404A>G (p.His135Arg)
|
|
|
NM_020778.5(ALPK3):c.4050T>A (p.Asn1350Lys)
|
|
|
NM_020778.5(ALPK3):c.4067C>T (p.Ser1356Phe)
|
|
|
NM_020778.5(ALPK3):c.4072G>A (p.Asp1358Asn)
|
|
|
NM_020778.5(ALPK3):c.4081_4083delinsTTT (p.Leu1361Phe)
|
|
|
NM_020778.5(ALPK3):c.4092G>T (p.Glu1364Asp)
|
rs778715401
|
|
NM_020778.5(ALPK3):c.4126G>A (p.Glu1376Lys)
|
|
|
NM_020778.5(ALPK3):c.4159G>T (p.Val1387Leu)
|
|
|
NM_020778.5(ALPK3):c.4172G>C (p.Gly1391Ala)
|
|
|
NM_020778.5(ALPK3):c.4192T>G (p.Trp1398Gly)
|
|
|
NM_020778.5(ALPK3):c.4214G>A (p.Arg1405Gln)
|
|
|
NM_020778.5(ALPK3):c.425G>T (p.Cys142Phe)
|
rs2141556129
|
|
NM_020778.5(ALPK3):c.4261C>T (p.Arg1421Trp)
|
|
|
NM_020778.5(ALPK3):c.4262G>A (p.Arg1421Gln)
|
|
|
NM_020778.5(ALPK3):c.4267G>C (p.Ala1423Pro)
|
rs750010018
|
|
NM_020778.5(ALPK3):c.4282G>T (p.Val1428Phe)
|
|
|
NM_020778.5(ALPK3):c.4313C>G (p.Ser1438Trp)
|
|
|
NM_020778.5(ALPK3):c.4313C>T (p.Ser1438Leu)
|
|
|
NM_020778.5(ALPK3):c.4322C>A (p.Thr1441Lys)
|
rs141398841
|
|
NM_020778.5(ALPK3):c.4322C>T (p.Thr1441Met)
|
rs141398841
|
|
NM_020778.5(ALPK3):c.4360C>T (p.Pro1454Ser)
|
|
|
NM_020778.5(ALPK3):c.4372A>T (p.Thr1458Ser)
|
|
|
NM_020778.5(ALPK3):c.4373C>A (p.Thr1458Asn)
|
|
|
NM_020778.5(ALPK3):c.4422C>G (p.Ile1474Met)
|
|
|
NM_020778.5(ALPK3):c.4427A>G (p.Asn1476Ser)
|
|
|
NM_020778.5(ALPK3):c.442G>A (p.Ala148Thr)
|
|
|
NM_020778.5(ALPK3):c.4435C>G (p.Arg1479Gly)
|
|
|
NM_020778.5(ALPK3):c.4453_4455del (p.Phe1485del)
|
|
|
NM_020778.5(ALPK3):c.4462G>A (p.Glu1488Lys)
|
|
|
NM_020778.5(ALPK3):c.4496C>T (p.Pro1499Leu)
|
|
|
NM_020778.5(ALPK3):c.4505T>C (p.Ile1502Thr)
|
|
|
NM_020778.5(ALPK3):c.4507C>G (p.Pro1503Ala)
|
|
|
NM_020778.5(ALPK3):c.4525C>A (p.Arg1509=)
|
|
|
NM_020778.5(ALPK3):c.4525C>T (p.Arg1509Trp)
|
|
|
NM_020778.5(ALPK3):c.4526G>A (p.Arg1509Gln)
|
|
|
NM_020778.5(ALPK3):c.4549G>C (p.Ala1517Pro)
|
|
|
NM_020778.5(ALPK3):c.4577C>T (p.Pro1526Leu)
|
|
|
NM_020778.5(ALPK3):c.4595C>T (p.Ser1532Phe)
|
rs747505947
|
|
NM_020778.5(ALPK3):c.4598G>T (p.Arg1533Leu)
|
rs776664645
|
|
NM_020778.5(ALPK3):c.4604G>T (p.Trp1535Leu)
|
|
|
NM_020778.5(ALPK3):c.4639T>G (p.Ser1547Ala)
|
|
|
NM_020778.5(ALPK3):c.4682A>G (p.Tyr1561Cys)
|
|
|
NM_020778.5(ALPK3):c.4723+1G>A
|
|
|
NM_020778.5(ALPK3):c.4729G>T (p.Asp1577Tyr)
|
|
|
NM_020778.5(ALPK3):c.4744G>A (p.Asp1582Asn)
|
|
|
NM_020778.5(ALPK3):c.47G>C (p.Arg16Pro)
|
|
|
NM_020778.5(ALPK3):c.4816C>T (p.Arg1606Trp)
|
rs769796609
|
|
NM_020778.5(ALPK3):c.4852G>T (p.Glu1618Ter)
|
|
|
NM_020778.5(ALPK3):c.4861G>T (p.Gly1621Trp)
|
|
|
NM_020778.5(ALPK3):c.4879G>A (p.Gly1627Ser)
|
|
|
NM_020778.5(ALPK3):c.4882C>T (p.Pro1628Ser)
|
|
|
NM_020778.5(ALPK3):c.488G>T (p.Cys163Phe)
|
|
|
NM_020778.5(ALPK3):c.4896C>A (p.His1632Gln)
|
rs1387694108
|
|
NM_020778.5(ALPK3):c.4898C>G (p.Pro1633Arg)
|
|
|
NM_020778.5(ALPK3):c.4954C>A (p.Leu1652Met)
|
rs139738663
|
|
NM_020778.5(ALPK3):c.4955T>C (p.Leu1652Pro)
|
|
|
NM_020778.5(ALPK3):c.4966C>T (p.Pro1656Ser)
|
|
|
NM_020778.5(ALPK3):c.4969del (p.Gln1657fs)
|
|
|
NM_020778.5(ALPK3):c.49T>G (p.Ser17Ala)
|
|
|
NM_020778.5(ALPK3):c.5000C>T (p.Thr1667Ile)
|
|
|
NM_020778.5(ALPK3):c.5009G>A (p.Ser1670Asn)
|
|
|
NM_020778.5(ALPK3):c.5024A>G (p.Lys1675Arg)
|
|
|
NM_020778.5(ALPK3):c.5027C>T (p.Ala1676Val)
|
rs150250443
|
|
NM_020778.5(ALPK3):c.5065T>G (p.Leu1689Val)
|
|
|
NM_020778.5(ALPK3):c.5075C>G (p.Pro1692Arg)
|
|
|
NM_020778.5(ALPK3):c.5080A>G (p.Thr1694Ala)
|
|
|
NM_020778.5(ALPK3):c.50C>G (p.Ser17Trp)
|
|
|
NM_020778.5(ALPK3):c.5104C>G (p.Gln1702Glu)
|
|
|
NM_020778.5(ALPK3):c.5104C>T (p.Gln1702Ter)
|
|
|
NM_020778.5(ALPK3):c.5107G>A (p.Gly1703Ser)
|
|
|
NM_020778.5(ALPK3):c.5115del (p.Ter1706SerextTer?)
|
rs753251432
|
|
NM_020778.5(ALPK3):c.524A>C (p.Tyr175Ser)
|
|
|
NM_020778.5(ALPK3):c.56C>G (p.Ala19Gly)
|
|
|
NM_020778.5(ALPK3):c.583G>A (p.Glu195Lys)
|
|
|
NM_020778.5(ALPK3):c.588C>G (p.Ile196Met)
|
rs1165843264
|
|
NM_020778.5(ALPK3):c.589G>C (p.Glu197Gln)
|
|
|
NM_020778.5(ALPK3):c.58G>A (p.Gly20Arg)
|
|
|
NM_020778.5(ALPK3):c.640C>T (p.Arg214Cys)
|
|
|
NM_020778.5(ALPK3):c.646C>G (p.Leu216Val)
|
|
|
NM_020778.5(ALPK3):c.646_647delinsGC (p.Leu216Ala)
|
|
|
NM_020778.5(ALPK3):c.647T>C (p.Leu216Pro)
|
|
|
NM_020778.5(ALPK3):c.658C>T (p.Arg220Cys)
|
|
|
NM_020778.5(ALPK3):c.680T>G (p.Leu227Trp)
|
|
|
NM_020778.5(ALPK3):c.682_696del (p.Ser228_Ala232del)
|
|
|
NM_020778.5(ALPK3):c.709G>A (p.Val237Ile)
|
|
|
NM_020778.5(ALPK3):c.722A>C (p.Glu241Ala)
|
|
|
NM_020778.5(ALPK3):c.755A>T (p.Glu252Val)
|
|
|
NM_020778.5(ALPK3):c.763A>C (p.Thr255Pro)
|
|
|
NM_020778.5(ALPK3):c.789G>C (p.Leu263Phe)
|
|
|
NM_020778.5(ALPK3):c.793C>G (p.Leu265Val)
|
|
|
NM_020778.5(ALPK3):c.7T>G (p.Ser3Ala)
|
|
|
NM_020778.5(ALPK3):c.809C>T (p.Ala270Val)
|
|
|
NM_020778.5(ALPK3):c.845C>A (p.Pro282His)
|
|
|
NM_020778.5(ALPK3):c.86T>C (p.Val29Ala)
|
|
|
NM_020778.5(ALPK3):c.893A>G (p.Asp298Gly)
|
|
|
NM_020778.5(ALPK3):c.896C>A (p.Ala299Asp)
|
|
|
NM_020778.5(ALPK3):c.904C>A (p.Leu302Met)
|
|
|
NM_020778.5(ALPK3):c.910C>T (p.Pro304Ser)
|
|
|
NM_020778.5(ALPK3):c.919G>C (p.Ala307Pro)
|
|
|
NM_020778.5(ALPK3):c.92T>A (p.Ile31Asn)
|
|
|
NM_020778.5(ALPK3):c.977G>T (p.Gly326Val)
|
|
|
NM_020778.5(ALPK3):c.982C>T (p.Arg328Trp)
|
|
|
NM_020778.5(ALPK3):c.98G>A (p.Ser33Asn)
|
|
|
NM_020778.5(ALPK3):c.991G>A (p.Glu331Lys)
|
rs1366856276
|
|
NM_020778.5(ALPK3):c.997G>A (p.Glu333Lys)
|
|
|
NM_021167.5(GATAD1):c.104G>T (p.Gly35Val)
|
|
|
NM_021167.5(GATAD1):c.106C>T (p.Arg36Trp)
|
rs1166946596
|
|
NM_021167.5(GATAD1):c.107G>A (p.Arg36Gln)
|
rs934989780
|
|
NM_021167.5(GATAD1):c.107G>C (p.Arg36Pro)
|
|
|
NM_021167.5(GATAD1):c.112G>T (p.Gly38Cys)
|
|
|
NM_021167.5(GATAD1):c.117_131del (p.38_42GAGSG[1])
|
rs779421592
|
|
NM_021167.5(GATAD1):c.124G>A (p.Gly42Arg)
|
|
|
NM_021167.5(GATAD1):c.125G>A (p.Gly42Glu)
|
|
|
NM_021167.5(GATAD1):c.128G>A (p.Gly43Asp)
|
|
|
NM_021167.5(GATAD1):c.128G>T (p.Gly43Val)
|
|
|
NM_021167.5(GATAD1):c.146C>T (p.Ala49Val)
|
|
|
NM_021167.5(GATAD1):c.157G>C (p.Gly53Arg)
|
rs988478105
|
|
NM_021167.5(GATAD1):c.157G>T (p.Gly53Trp)
|
rs988478105
|
|
NM_021167.5(GATAD1):c.163A>G (p.Ser55Gly)
|
|
|
NM_021167.5(GATAD1):c.170G>A (p.Gly57Asp)
|
|
|
NM_021167.5(GATAD1):c.182G>A (p.Gly61Asp)
|
|
|
NM_021167.5(GATAD1):c.184G>A (p.Ala62Thr)
|
rs1445688677
|
|
NM_021167.5(GATAD1):c.188C>G (p.Ala63Gly)
|
|
|
NM_021167.5(GATAD1):c.199A>G (p.Ser67Gly)
|
|
|
NM_021167.5(GATAD1):c.206C>T (p.Ser69Phe)
|
|
|
NM_021167.5(GATAD1):c.231GGGCGG[3] (p.Gly80_Gly81dup)
|
rs1415933913
|
|
NM_021167.5(GATAD1):c.250-5A>G
|
|
|
NM_021167.5(GATAD1):c.31G>A (p.Val11Ile)
|
|
|
NM_021167.5(GATAD1):c.358A>G (p.Ile120Val)
|
|
|
NM_021167.5(GATAD1):c.362T>C (p.Phe121Ser)
|
|
|
NM_021167.5(GATAD1):c.368T>G (p.Leu123Trp)
|
|
|
NM_021167.5(GATAD1):c.424A>G (p.Ile142Val)
|
|
|
NM_021167.5(GATAD1):c.435+5G>A
|
|
|
NM_021167.5(GATAD1):c.437G>A (p.Gly146Glu)
|
|
|
NM_021167.5(GATAD1):c.487G>A (p.Gly163Arg)
|
|
|
NM_021167.5(GATAD1):c.500A>T (p.Tyr167Phe)
|
|
|
NM_021167.5(GATAD1):c.526G>A (p.Asp176Asn)
|
|
|
NM_021167.5(GATAD1):c.537C>G (p.Cys179Trp)
|
rs727503061
|
|
NM_021167.5(GATAD1):c.550G>T (p.Ala184Ser)
|
|
|
NM_021167.5(GATAD1):c.625G>C (p.Glu209Gln)
|
|
|
NM_021167.5(GATAD1):c.62A>G (p.Lys21Arg)
|
|
|
NM_021167.5(GATAD1):c.647T>C (p.Met216Thr)
|
|
|
NM_021167.5(GATAD1):c.698G>A (p.Arg233Gln)
|
|
|
NM_021167.5(GATAD1):c.701C>A (p.Ser234Ter)
|
|
|
NM_021167.5(GATAD1):c.754C>T (p.His252Tyr)
|
|
|
NM_021167.5(GATAD1):c.76G>C (p.Gly26Arg)
|
|
|
NM_021167.5(GATAD1):c.79G>A (p.Glu27Lys)
|
|
|
NM_021167.5(GATAD1):c.800A>G (p.Asn267Ser)
|
|
|
NM_021167.5(GATAD1):c.85C>A (p.Leu29Ile)
|
|
|
NM_021167.5(GATAD1):c.94C>T (p.His32Tyr)
|
|
|
NM_022436.3(ABCG5):c.1001T>C (p.Ile334Thr)
|
|
|
NM_022436.3(ABCG5):c.1006C>T (p.His336Tyr)
|
|
|
NM_022436.3(ABCG5):c.1015T>G (p.Leu339Val)
|
|
|
NM_022436.3(ABCG5):c.1025T>C (p.Ile342Thr)
|
|
|
NM_022436.3(ABCG5):c.1043T>G (p.Leu348Arg)
|
|
|
NM_022436.3(ABCG5):c.1068C>G (p.Phe356Leu)
|
|
|
NM_022436.3(ABCG5):c.1082C>G (p.Ser361Cys)
|
rs776365033
|
|
NM_022436.3(ABCG5):c.10C>A (p.Leu4Ile)
|
|
|
NM_022436.3(ABCG5):c.1137G>C (p.Leu379Phe)
|
|
|
NM_022436.3(ABCG5):c.1186A>T (p.Met396Leu)
|
|
|
NM_022436.3(ABCG5):c.1248C>G (p.Ile416Met)
|
|
|
NM_022436.3(ABCG5):c.1250A>G (p.Gln417Arg)
|
|
|
NM_022436.3(ABCG5):c.1252G>A (p.Asp418Asn)
|
|
|
NM_022436.3(ABCG5):c.1289C>T (p.Thr430Ile)
|
|
|
NM_022436.3(ABCG5):c.1303A>G (p.Met435Val)
|
|
|
NM_022436.3(ABCG5):c.1333C>G (p.Leu445Val)
|
|
|
NM_022436.3(ABCG5):c.139G>C (p.Val47Leu)
|
rs72542426
|
|
NM_022436.3(ABCG5):c.1433C>A (p.Ala478Asp)
|
|
|
NM_022436.3(ABCG5):c.1472G>A (p.Gly491Asp)
|
|
|
NM_022436.3(ABCG5):c.1501T>C (p.Tyr501His)
|
|
|
NM_022436.3(ABCG5):c.1514C>A (p.Ala505Asp)
|
|
|
NM_022436.3(ABCG5):c.1522G>A (p.Ala508Thr)
|
|
|
NM_022436.3(ABCG5):c.1537G>C (p.Gly513Arg)
|
rs1418170362
|
|
NM_022436.3(ABCG5):c.1549A>C (p.Thr517Pro)
|
|
|
NM_022436.3(ABCG5):c.158C>T (p.Pro53Leu)
|
|
|
NM_022436.3(ABCG5):c.1593C>A (p.Asn531Lys)
|
|
|
NM_022436.3(ABCG5):c.1596T>A (p.Ser532Arg)
|
|
|
NM_022436.3(ABCG5):c.1603G>A (p.Ala535Thr)
|
|
|
NM_022436.3(ABCG5):c.1616T>C (p.Ile539Thr)
|
|
|
NM_022436.3(ABCG5):c.1624G>C (p.Val542Leu)
|
|
|
NM_022436.3(ABCG5):c.1628T>C (p.Leu543Pro)
|
|
|
NM_022436.3(ABCG5):c.1654A>C (p.Ile552Leu)
|
|
|
NM_022436.3(ABCG5):c.1667C>T (p.Pro556Leu)
|
|
|
NM_022436.3(ABCG5):c.1672C>G (p.Pro558Ala)
|
|
|
NM_022436.3(ABCG5):c.1690T>C (p.Tyr564His)
|
|
|
NM_022436.3(ABCG5):c.1720A>T (p.Ile574Phe)
|
|
|
NM_022436.3(ABCG5):c.1727T>C (p.Val576Ala)
|
|
|
NM_022436.3(ABCG5):c.1792C>A (p.Pro598Thr)
|
|
|
NM_022436.3(ABCG5):c.1825A>G (p.Ile609Val)
|
|
|
NM_022436.3(ABCG5):c.1826T>C (p.Ile609Thr)
|
|
|
NM_022436.3(ABCG5):c.1828G>C (p.Glu610Gln)
|
|
|
NM_022436.3(ABCG5):c.1891A>T (p.Ile631Phe)
|
|
|
NM_022436.3(ABCG5):c.1898C>G (p.Ala633Gly)
|
|
|
NM_022436.3(ABCG5):c.1942C>T (p.Leu648Phe)
|
|
|
NM_022436.3(ABCG5):c.1952G>A (p.Arg651Lys)
|
|
|
NM_022436.3(ABCG5):c.212A>G (p.Asp71Gly)
|
|
|
NM_022436.3(ABCG5):c.214G>A (p.Val72Ile)
|
|
|
NM_022436.3(ABCG5):c.226G>C (p.Val76Leu)
|
|
|
NM_022436.3(ABCG5):c.242T>C (p.Ile81Thr)
|
|
|
NM_022436.3(ABCG5):c.25C>A (p.Pro9Thr)
|
|
|
NM_022436.3(ABCG5):c.260G>T (p.Ser87Ile)
|
|
|
NM_022436.3(ABCG5):c.377A>G (p.Gln126Arg)
|
|
|
NM_022436.3(ABCG5):c.383G>C (p.Cys128Ser)
|
|
|
NM_022436.3(ABCG5):c.395T>A (p.Val132Asp)
|
|
|
NM_022436.3(ABCG5):c.398T>G (p.Leu133Arg)
|
|
|
NM_022436.3(ABCG5):c.39G>C (p.Met13Ile)
|
|
|
NM_022436.3(ABCG5):c.434G>A (p.Arg145His)
|
|
|
NM_022436.3(ABCG5):c.43C>G (p.Leu15Val)
|
rs372312214
|
|
NM_022436.3(ABCG5):c.448T>C (p.Tyr150His)
|
|
|
NM_022436.3(ABCG5):c.452C>G (p.Thr151Ser)
|
|
|
NM_022436.3(ABCG5):c.469C>T (p.Arg157Cys)
|
|
|
NM_022436.3(ABCG5):c.527G>A (p.Ser176Asn)
|
|
|
NM_022436.3(ABCG5):c.560A>G (p.Asn187Ser)
|
|
|
NM_022436.3(ABCG5):c.571G>C (p.Gly191Arg)
|
|
|
NM_022436.3(ABCG5):c.596G>A (p.Arg199His)
|
|
|
NM_022436.3(ABCG5):c.613G>A (p.Ala205Thr)
|
|
|
NM_022436.3(ABCG5):c.680C>G (p.Thr227Ser)
|
|
|
NM_022436.3(ABCG5):c.686A>C (p.Asn229Thr)
|
|
|
NM_022436.3(ABCG5):c.719G>A (p.Arg240His)
|
|
|
NM_022436.3(ABCG5):c.723G>T (p.Arg241Ser)
|
|
|
NM_022436.3(ABCG5):c.757C>T (p.Arg253Cys)
|
|
|
NM_022436.3(ABCG5):c.782A>T (p.Asp261Val)
|
|
|
NM_022436.3(ABCG5):c.791C>T (p.Ala264Val)
|
|
|
NM_022436.3(ABCG5):c.805G>C (p.Gly269Arg)
|
|
|
NM_022436.3(ABCG5):c.833C>A (p.Ala278Glu)
|
|
|
NM_022436.3(ABCG5):c.890C>T (p.Pro297Leu)
|
|
|
NM_022436.3(ABCG5):c.893T>C (p.Phe298Ser)
|
|
|
NM_022436.3(ABCG5):c.970A>G (p.Met324Val)
|
|
|
NM_022437.2:c.927_928insALU
|
|
|
NM_022437.3(ABCG8):c.1024G>T (p.Ala342Ser)
|
rs145373839
|
|
NM_022437.3(ABCG8):c.1036G>A (p.Ala346Thr)
|
|
|
NM_022437.3(ABCG8):c.1061G>A (p.Arg354His)
|
rs142346631
|
|
NM_022437.3(ABCG8):c.1070A>G (p.Asp357Gly)
|
rs1232951681
|
|
NM_022437.3(ABCG8):c.1087G>C (p.Ala363Pro)
|
|
|
NM_022437.3(ABCG8):c.1099G>A (p.Asp367Asn)
|
|
|
NM_022437.3(ABCG8):c.1110G>T (p.Glu370Asp)
|
|
|
NM_022437.3(ABCG8):c.1124A>C (p.Glu375Ala)
|
|
|
NM_022437.3(ABCG8):c.1132G>A (p.Val378Met)
|
|
|
NM_022437.3(ABCG8):c.1152C>A (p.Asn384Lys)
|
|
|
NM_022437.3(ABCG8):c.1152C>G (p.Asn384Lys)
|
|
|
NM_022437.3(ABCG8):c.1165C>G (p.Pro389Ala)
|
|
|
NM_022437.3(ABCG8):c.1166C>T (p.Pro389Leu)
|
|
|
NM_022437.3(ABCG8):c.1169C>T (p.Thr390Met)
|
|
|
NM_022437.3(ABCG8):c.1180G>C (p.Gly394Arg)
|
rs374156864
|
|
NM_022437.3(ABCG8):c.1214G>T (p.Arg405Leu)
|
|
|
NM_022437.3(ABCG8):c.1243C>T (p.Pro415Ser)
|
|
|
NM_022437.3(ABCG8):c.1293C>G (p.Ile431Met)
|
|
|
NM_022437.3(ABCG8):c.1313A>G (p.His438Arg)
|
|
|
NM_022437.3(ABCG8):c.1337T>G (p.Met446Arg)
|
|
|
NM_022437.3(ABCG8):c.1372C>T (p.Leu458Phe)
|
|
|
NM_022437.3(ABCG8):c.1481T>C (p.Phe494Ser)
|
|
|
NM_022437.3(ABCG8):c.1534G>A (p.Gly512Arg)
|
|
|
NM_022437.3(ABCG8):c.1540C>A (p.Pro514Thr)
|
|
|
NM_022437.3(ABCG8):c.1540C>T (p.Pro514Ser)
|
|
|
NM_022437.3(ABCG8):c.1547A>C (p.Tyr516Ser)
|
|
|
NM_022437.3(ABCG8):c.1556C>T (p.Ala519Val)
|
|
|
NM_022437.3(ABCG8):c.157A>G (p.Asn53Asp)
|
|
|
NM_022437.3(ABCG8):c.1598T>C (p.Leu533Pro)
|
|
|
NM_022437.3(ABCG8):c.1604T>C (p.Val535Ala)
|
|
|
NM_022437.3(ABCG8):c.1619T>C (p.Phe540Ser)
|
|
|
NM_022437.3(ABCG8):c.1637C>T (p.Ala546Val)
|
rs1025595416
|
|
NM_022437.3(ABCG8):c.1642G>A (p.Ala548Thr)
|
|
|
NM_022437.3(ABCG8):c.1642G>T (p.Ala548Ser)
|
|
|
NM_022437.3(ABCG8):c.1664C>T (p.Thr555Ile)
|
|
|
NM_022437.3(ABCG8):c.1669C>G (p.His557Asp)
|
|
|
NM_022437.3(ABCG8):c.1675G>C (p.Ala559Pro)
|
|
|
NM_022437.3(ABCG8):c.1689C>G (p.Ser563Arg)
|
|
|
NM_022437.3(ABCG8):c.1697T>G (p.Leu566Arg)
|
|
|
NM_022437.3(ABCG8):c.1700A>C (p.Tyr567Ser)
|
|
|
NM_022437.3(ABCG8):c.170A>C (p.Asp57Ala)
|
|
|
NM_022437.3(ABCG8):c.1762G>C (p.Ala588Pro)
|
|
|
NM_022437.3(ABCG8):c.1792T>C (p.Trp598Arg)
|
|
|
NM_022437.3(ABCG8):c.1820A>G (p.Gln607Arg)
|
|
|
NM_022437.3(ABCG8):c.1846C>T (p.Pro616Ser)
|
|
|
NM_022437.3(ABCG8):c.1868C>T (p.Ala623Val)
|
|
|
NM_022437.3(ABCG8):c.1954G>A (p.Gly652Ser)
|
|
|
NM_022437.3(ABCG8):c.1994T>G (p.Ile665Ser)
|
|
|
NM_022437.3(ABCG8):c.22G>A (p.Glu8Lys)
|
|
|
NM_022437.3(ABCG8):c.255G>T (p.Glu85Asp)
|
|
|
NM_022437.3(ABCG8):c.287G>T (p.Arg96Ile)
|
|
|
NM_022437.3(ABCG8):c.28G>A (p.Gly10Arg)
|
|
|
NM_022437.3(ABCG8):c.31C>G (p.Leu11Val)
|
|
|
NM_022437.3(ABCG8):c.337T>C (p.Ser113Pro)
|
|
|
NM_022437.3(ABCG8):c.362G>A (p.Arg121Gln)
|
|
|
NM_022437.3(ABCG8):c.389G>T (p.Gly130Val)
|
rs968485818
|
|
NM_022437.3(ABCG8):c.393G>C (p.Gln131His)
|
|
|
NM_022437.3(ABCG8):c.41G>C (p.Gly14Ala)
|
|
|
NM_022437.3(ABCG8):c.449A>G (p.His150Arg)
|
|
|
NM_022437.3(ABCG8):c.458A>C (p.Gln153Pro)
|
|
|
NM_022437.3(ABCG8):c.487G>A (p.Val163Met)
|
|
|
NM_022437.3(ABCG8):c.519G>A (p.Met173Ile)
|
|
|
NM_022437.3(ABCG8):c.533C>A (p.Thr178Asn)
|
|
|
NM_022437.3(ABCG8):c.537C>A (p.Phe179Leu)
|
|
|
NM_022437.3(ABCG8):c.542A>G (p.Gln181Arg)
|
|
|
NM_022437.3(ABCG8):c.551G>C (p.Arg184Pro)
|
|
|
NM_022437.3(ABCG8):c.589C>T (p.Leu197Phe)
|
|
|
NM_022437.3(ABCG8):c.590T>C (p.Leu197Pro)
|
|
|
NM_022437.3(ABCG8):c.613G>C (p.Val205Leu)
|
rs373723529
|
|
NM_022437.3(ABCG8):c.629T>G (p.Val210Gly)
|
|
|
NM_022437.3(ABCG8):c.635G>A (p.Gly212Glu)
|
|
|
NM_022437.3(ABCG8):c.63G>A (p.Ser21=)
|
|
|
NM_022437.3(ABCG8):c.643G>A (p.Gly215Arg)
|
|
|
NM_022437.3(ABCG8):c.653G>A (p.Arg218His)
|
|
|
NM_022437.3(ABCG8):c.653G>T (p.Arg218Leu)
|
|
|
NM_022437.3(ABCG8):c.661G>A (p.Val221Ile)
|
|
|
NM_022437.3(ABCG8):c.674T>A (p.Val225Glu)
|
|
|
NM_022437.3(ABCG8):c.697A>G (p.Ile233Val)
|
|
|
NM_022437.3(ABCG8):c.730G>A (p.Asp244Asn)
|
|
|
NM_022437.3(ABCG8):c.742G>A (p.Ala248Thr)
|
|
|
NM_022437.3(ABCG8):c.757A>G (p.Lys253Glu)
|
|
|
NM_022437.3(ABCG8):c.887C>T (p.Ala296Val)
|
|
|
NM_022437.3(ABCG8):c.898A>G (p.Met300Val)
|
|
|
NM_022437.3(ABCG8):c.919A>G (p.Ile307Val)
|
|
|
NM_022437.3(ABCG8):c.92A>C (p.Glu31Ala)
|
|
|
NM_022437.3(ABCG8):c.988C>T (p.Arg330Cys)
|
|
|
NM_022437.3(ABCG8):c.99C>A (p.Asp33Glu)
|
|
|
NM_022773.4(LMF1):c.101G>A (p.Gly34Glu)
|
|
|
NM_022773.4(LMF1):c.1036A>G (p.Met346Val)
|
rs201767825
|
|
NM_022773.4(LMF1):c.1042A>G (p.Arg348Gly)
|
|
|
NM_022773.4(LMF1):c.1069C>G (p.Pro357Ala)
|
|
|
NM_022773.4(LMF1):c.106G>A (p.Gly36Ser)
|
|
|
NM_022773.4(LMF1):c.1075T>C (p.Phe359Leu)
|
|
|
NM_022773.4(LMF1):c.1076T>G (p.Phe359Cys)
|
|
|
NM_022773.4(LMF1):c.1078G>A (p.Gly360Ser)
|
|
|
NM_022773.4(LMF1):c.1078G>C (p.Gly360Arg)
|
|
|
NM_022773.4(LMF1):c.1094G>A (p.Arg365His)
|
|
|
NM_022773.4(LMF1):c.1097C>T (p.Ala366Val)
|
|
|
NM_022773.4(LMF1):c.112G>A (p.Ala38Thr)
|
|
|
NM_022773.4(LMF1):c.113C>T (p.Ala38Val)
|
|
|
NM_022773.4(LMF1):c.1150C>T (p.Leu384Phe)
|
|
|
NM_022773.4(LMF1):c.115G>C (p.Gly39Arg)
|
|
|
NM_022773.4(LMF1):c.1192A>G (p.Asn398Asp)
|
|
|
NM_022773.4(LMF1):c.1204A>G (p.Ile402Val)
|
|
|
NM_022773.4(LMF1):c.1205T>G (p.Ile402Ser)
|
|
|
NM_022773.4(LMF1):c.1208T>C (p.Val403Ala)
|
|
|
NM_022773.4(LMF1):c.1211A>G (p.Asn404Ser)
|
|
|
NM_022773.4(LMF1):c.1216T>C (p.Tyr406His)
|
|
|
NM_022773.4(LMF1):c.1246C>T (p.Arg416Trp)
|
|
|
NM_022773.4(LMF1):c.1260C>G (p.Ile420Met)
|
|
|
NM_022773.4(LMF1):c.1318G>A (p.Glu440Lys)
|
|
|
NM_022773.4(LMF1):c.1318G>C (p.Glu440Gln)
|
|
|
NM_022773.4(LMF1):c.134A>T (p.His45Leu)
|
|
|
NM_022773.4(LMF1):c.1396A>T (p.Met466Leu)
|
|
|
NM_022773.4(LMF1):c.1423G>A (p.Glu475Lys)
|
|
|
NM_022773.4(LMF1):c.1427A>C (p.His476Pro)
|
|
|
NM_022773.4(LMF1):c.1432G>T (p.Asp478Tyr)
|
|
|
NM_022773.4(LMF1):c.1441A>G (p.Ile481Val)
|
|
|
NM_022773.4(LMF1):c.1451C>T (p.Ala484Val)
|
|
|
NM_022773.4(LMF1):c.145T>G (p.Phe49Val)
|
|
|
NM_022773.4(LMF1):c.1460T>C (p.Leu487Pro)
|
|
|
NM_022773.4(LMF1):c.1474G>A (p.Ala492Thr)
|
|
|
NM_022773.4(LMF1):c.1479G>C (p.Glu493Asp)
|
|
|
NM_022773.4(LMF1):c.1481C>G (p.Ala494Gly)
|
|
|
NM_022773.4(LMF1):c.1496C>T (p.Ala499Val)
|
|
|
NM_022773.4(LMF1):c.1502A>T (p.Asn501Ile)
|
|
|
NM_022773.4(LMF1):c.1510G>A (p.Ala504Thr)
|
|
|
NM_022773.4(LMF1):c.1518G>T (p.Arg506Ser)
|
|
|
NM_022773.4(LMF1):c.1528A>G (p.Arg510Gly)
|
|
|
NM_022773.4(LMF1):c.1538G>A (p.Arg513Gln)
|
|
|
NM_022773.4(LMF1):c.1553G>A (p.Arg518Lys)
|
|
|
NM_022773.4(LMF1):c.1574G>A (p.Gly525Glu)
|
|
|
NM_022773.4(LMF1):c.1588G>A (p.Ala530Thr)
|
|
|
NM_022773.4(LMF1):c.1591G>A (p.Glu531Lys)
|
|
|
NM_022773.4(LMF1):c.1606G>A (p.Val536Met)
|
|
|
NM_022773.4(LMF1):c.1645C>G (p.Leu549Val)
|
|
|
NM_022773.4(LMF1):c.1673A>G (p.Asp558Gly)
|
|
|
NM_022773.4(LMF1):c.1675C>T (p.Arg559Cys)
|
|
|
NM_022773.4(LMF1):c.1694G>T (p.Gly565Val)
|
|
|
NM_022773.4(LMF1):c.176C>T (p.Ala59Val)
|
|
|
NM_022773.4(LMF1):c.188T>A (p.Val63Glu)
|
|
|
NM_022773.4(LMF1):c.196G>A (p.Val66Met)
|
|
|
NM_022773.4(LMF1):c.199G>A (p.Ala67Thr)
|
|
|
NM_022773.4(LMF1):c.199G>C (p.Ala67Pro)
|
|
|
NM_022773.4(LMF1):c.220C>G (p.Gln74Glu)
|
|
|
NM_022773.4(LMF1):c.223A>C (p.Asn75His)
|
|
|
NM_022773.4(LMF1):c.242A>G (p.Asp81Gly)
|
|
|
NM_022773.4(LMF1):c.254T>G (p.Leu85Arg)
|
|
|
NM_022773.4(LMF1):c.257C>A (p.Pro86His)
|
|
|
NM_022773.4(LMF1):c.298G>A (p.Asp100Asn)
|
|
|
NM_022773.4(LMF1):c.305C>T (p.Thr102Met)
|
|
|
NM_022773.4(LMF1):c.322A>G (p.Ser108Gly)
|
|
|
NM_022773.4(LMF1):c.330G>A (p.Met110Ile)
|
|
|
NM_022773.4(LMF1):c.338T>C (p.Ile113Thr)
|
|
|
NM_022773.4(LMF1):c.354C>G (p.Asp118Glu)
|
|
|
NM_022773.4(LMF1):c.371C>G (p.Ser124Cys)
|
|
|
NM_022773.4(LMF1):c.374A>G (p.Asn125Ser)
|
|
|
NM_022773.4(LMF1):c.383T>A (p.Leu128Ter)
|
rs2072617381
|
|
NM_022773.4(LMF1):c.395T>A (p.Leu132His)
|
|
|
NM_022773.4(LMF1):c.404G>T (p.Gly135Val)
|
|
|
NM_022773.4(LMF1):c.40T>A (p.Ser14Thr)
|
|
|
NM_022773.4(LMF1):c.41C>T (p.Ser14Leu)
|
|
|
NM_022773.4(LMF1):c.428C>T (p.Thr143Met)
|
|
|
NM_022773.4(LMF1):c.430G>A (p.Gly144Ser)
|
|
|
NM_022773.4(LMF1):c.434G>A (p.Cys145Tyr)
|
|
|
NM_022773.4(LMF1):c.448C>G (p.Leu150Val)
|
|
|
NM_022773.4(LMF1):c.512T>C (p.Phe171Ser)
|
|
|
NM_022773.4(LMF1):c.574A>G (p.Thr192Ala)
|
|
|
NM_022773.4(LMF1):c.595C>T (p.His199Tyr)
|
|
|
NM_022773.4(LMF1):c.649A>G (p.Ile217Val)
|
|
|
NM_022773.4(LMF1):c.674A>T (p.Lys225Met)
|
|
|
NM_022773.4(LMF1):c.679C>T (p.Arg227Trp)
|
|
|
NM_022773.4(LMF1):c.67T>C (p.Ser23Pro)
|
|
|
NM_022773.4(LMF1):c.680G>A (p.Arg227Gln)
|
|
|
NM_022773.4(LMF1):c.683G>A (p.Gly228Glu)
|
rs754772870
|
|
NM_022773.4(LMF1):c.685dup (p.Asp229fs)
|
|
|
NM_022773.4(LMF1):c.70G>T (p.Asp24Tyr)
|
|
|
NM_022773.4(LMF1):c.725A>G (p.Tyr242Cys)
|
|
|
NM_022773.4(LMF1):c.725A>T (p.Tyr242Phe)
|
|
|
NM_022773.4(LMF1):c.766C>T (p.His256Tyr)
|
|
|
NM_022773.4(LMF1):c.779G>C (p.Trp260Ser)
|
|
|
NM_022773.4(LMF1):c.791G>A (p.Arg264His)
|
|
|
NM_022773.4(LMF1):c.838T>C (p.Phe280Leu)
|
|
|
NM_022773.4(LMF1):c.841C>T (p.Leu281Phe)
|
|
|
NM_022773.4(LMF1):c.842T>C (p.Leu281Pro)
|
|
|
NM_022773.4(LMF1):c.848T>A (p.Leu283His)
|
|
|
NM_022773.4(LMF1):c.854G>A (p.Arg285Gln)
|
|
|
NM_022773.4(LMF1):c.857G>A (p.Arg286Gln)
|
|
|
NM_022773.4(LMF1):c.869T>C (p.Ile290Thr)
|
|
|
NM_022773.4(LMF1):c.88C>T (p.Pro30Ser)
|
|
|
NM_022773.4(LMF1):c.890T>C (p.Leu297Pro)
|
|
|
NM_022773.4(LMF1):c.902T>A (p.Val301Asp)
|
|
|
NM_022773.4(LMF1):c.92C>T (p.Pro31Leu)
|
|
|
NM_022773.4(LMF1):c.938G>T (p.Trp313Leu)
|
|
|
NM_022773.4(LMF1):c.956G>C (p.Ser319Thr)
|
|
|
NM_022773.4(LMF1):c.976G>A (p.Ala326Thr)
|
|
|
NM_022773.4(LMF1):c.97C>T (p.Pro33Ser)
|
|
|
NM_022773.4(LMF1):c.989T>A (p.Phe330Tyr)
|
|
|
NM_022773.4(LMF1):c.990C>A (p.Phe330Leu)
|
|
|
NM_022773.4(LMF1):c.998C>G (p.Pro333Arg)
|
|
|
NM_024301.5(FKRP):c.-4C>T
|
|
|
NM_024301.5(FKRP):c.1007C>T (p.Ala336Val)
|
rs1555738924
|
|
NM_024301.5(FKRP):c.100T>A (p.Ser34Thr)
|
|
|
NM_024301.5(FKRP):c.1040T>A (p.Leu347Gln)
|
|
|
NM_024301.5(FKRP):c.1043T>A (p.Leu348Gln)
|
|
|
NM_024301.5(FKRP):c.1045G>T (p.Gly349Trp)
|
|
|
NM_024301.5(FKRP):c.10A>G (p.Thr4Ala)
|
|
|
NM_024301.5(FKRP):c.1141G>A (p.Ala381Thr)
|
|
|
NM_024301.5(FKRP):c.1177G>T (p.Val393Leu)
|
|
|
NM_024301.5(FKRP):c.1315G>A (p.Val439Met)
|
|
|
NM_024301.5(FKRP):c.1346T>C (p.Leu449Pro)
|
|
|
NM_024301.5(FKRP):c.1379A>G (p.Gln460Arg)
|
|
|
NM_024301.5(FKRP):c.1388A>T (p.Asn463Ile)
|
rs2122636612
|
|
NM_024301.5(FKRP):c.1442C>A (p.Pro481His)
|
rs727502844
|
|
NM_024301.5(FKRP):c.151G>C (p.Val51Leu)
|
|
|
NM_024301.5(FKRP):c.180C>G (p.Asp60Glu)
|
|
|
NM_024301.5(FKRP):c.223C>G (p.Pro75Ala)
|
|
|
NM_024301.5(FKRP):c.272T>A (p.Leu91Gln)
|
|
|
NM_024301.5(FKRP):c.305C>A (p.Ala102Glu)
|
rs1473327480
|
|
NM_024301.5(FKRP):c.329G>C (p.Arg110Pro)
|
|
|
NM_024301.5(FKRP):c.344C>G (p.Ser115Trp)
|
rs752018916
|
|
NM_024301.5(FKRP):c.346C>T (p.Arg116Cys)
|
|
|
NM_024301.5(FKRP):c.37G>A (p.Ala13Thr)
|
rs768376273
|
|
NM_024301.5(FKRP):c.385G>C (p.Val129Leu)
|
rs747642602
|
|
NM_024301.5(FKRP):c.394G>A (p.Gly132Arg)
|
|
|
NM_024301.5(FKRP):c.394G>C (p.Gly132Arg)
|
rs900304726
|
|
NM_024301.5(FKRP):c.424G>A (p.Glu142Lys)
|
|
|
NM_024301.5(FKRP):c.428G>T (p.Arg143Leu)
|
|
|
NM_024301.5(FKRP):c.485C>T (p.Thr162Met)
|
|
|
NM_024301.5(FKRP):c.527G>A (p.Arg176Gln)
|
rs755316345
|
|
NM_024301.5(FKRP):c.529G>A (p.Glu177Lys)
|
rs727502843
|
|
NM_024301.5(FKRP):c.540_541delinsTA (p.Arg181Ser)
|
rs1568418289
|
|
NM_024301.5(FKRP):c.541C>T (p.Arg181Cys)
|
rs777245868
|
|
NM_024301.5(FKRP):c.556C>G (p.Pro186Ala)
|
|
|
NM_024301.5(FKRP):c.590A>T (p.Asp197Val)
|
|
|
NM_024301.5(FKRP):c.607C>T (p.Arg203Cys)
|
|
|
NM_024301.5(FKRP):c.61C>T (p.Leu21Phe)
|
|
|
NM_024301.5(FKRP):c.646C>T (p.Arg216Trp)
|
rs2054912295
|
|
NM_024301.5(FKRP):c.655G>A (p.Gly219Ser)
|
rs878855080
|
|
NM_024301.5(FKRP):c.658A>C (p.Thr220Pro)
|
|
|
NM_024301.5(FKRP):c.721G>A (p.Ala241Thr)
|
|
|
NM_024301.5(FKRP):c.731G>T (p.Arg244Leu)
|
rs764641619
|
|
NM_024301.5(FKRP):c.763T>A (p.Trp255Arg)
|
rs2054916842
|
|
NM_024301.5(FKRP):c.779A>C (p.Glu260Ala)
|
rs1394263062
|
|
NM_024301.5(FKRP):c.782G>A (p.Gly261Glu)
|
|
|
NM_024301.5(FKRP):c.791G>C (p.Arg264Pro)
|
|
|
NM_024301.5(FKRP):c.821T>A (p.Ile274Asn)
|
|
|
NM_024301.5(FKRP):c.844G>A (p.Gly282Arg)
|
rs2054920195
|
|
NM_024301.5(FKRP):c.848G>C (p.Arg283Pro)
|
|
|
NM_024301.5(FKRP):c.85C>A (p.His29Asn)
|
|
|
NM_024301.5(FKRP):c.874G>A (p.Glu292Lys)
|
|
|
NM_024301.5(FKRP):c.892G>A (p.Gly298Arg)
|
rs886043401
|
|
NM_024301.5(FKRP):c.911C>T (p.Thr304Met)
|
|
|
NM_024301.5(FKRP):c.933G>C (p.Glu311Asp)
|
rs911700598
|
|
NM_024334.3(TMEM43):c.-3A>G
|
rs763829810
|
|
NM_024334.3(TMEM43):c.1006T>C (p.Trp336Arg)
|
|
|
NM_024334.3(TMEM43):c.1013C>T (p.Pro338Leu)
|
rs17856369
|
|
NM_024334.3(TMEM43):c.1015G>A (p.Val339Ile)
|
|
|
NM_024334.3(TMEM43):c.1019T>G (p.Phe340Cys)
|
rs1559363663
|
|
NM_024334.3(TMEM43):c.1034A>G (p.Asn345Ser)
|
rs758981622
|
|
NM_024334.3(TMEM43):c.1061G>T (p.Cys354Phe)
|
rs187262922
|
|
NM_024334.3(TMEM43):c.1079C>T (p.Thr360Ile)
|
rs1181935816
|
|
NM_024334.3(TMEM43):c.1112A>C (p.Tyr371Ser)
|
rs752269639
|
|
NM_024334.3(TMEM43):c.1116_1129dup (p.Leu377fs)
|
|
|
NM_024334.3(TMEM43):c.1129C>T (p.Leu377Phe)
|
|
|
NM_024334.3(TMEM43):c.1136T>C (p.Ile379Thr)
|
|
|
NM_024334.3(TMEM43):c.1171C>T (p.Arg391Trp)
|
rs1574942204
|
|
NM_024334.3(TMEM43):c.1196T>G (p.Leu399Trp)
|
rs1559363776
|
|
NM_024334.3(TMEM43):c.1201T>C (p.Ter401Arg)
|
|
|
NM_024334.3(TMEM43):c.131T>C (p.Leu44Pro)
|
|
|
NM_024334.3(TMEM43):c.143A>C (p.Tyr48Ser)
|
rs1553602871
|
|
NM_024334.3(TMEM43):c.14A>G (p.Tyr5Cys)
|
|
|
NM_024334.3(TMEM43):c.17C>G (p.Ser6Cys)
|
|
|
NM_024334.3(TMEM43):c.19A>G (p.Ser7Gly)
|
|
|
NM_024334.3(TMEM43):c.1A>G (p.Met1Val)
|
rs757083718
|
|
NM_024334.3(TMEM43):c.200G>T (p.Gly67Val)
|
rs766792876
|
|
NM_024334.3(TMEM43):c.227del (p.Ser76fs)
|
|
|
NM_024334.3(TMEM43):c.237T>G (p.Ser79Arg)
|
|
|
NM_024334.3(TMEM43):c.257G>A (p.Gly86Glu)
|
rs771454768
|
|
NM_024334.3(TMEM43):c.258_261del (p.Arg87fs)
|
|
|
NM_024334.3(TMEM43):c.287G>C (p.Arg96Pro)
|
rs748343919
|
|
NM_024334.3(TMEM43):c.296A>G (p.Lys99Arg)
|
rs199943048
|
|
NM_024334.3(TMEM43):c.304T>G (p.Ser102Ala)
|
|
|
NM_024334.3(TMEM43):c.31C>G (p.Arg11Gly)
|
rs201085402
|
|
NM_024334.3(TMEM43):c.322G>T (p.Val108Phe)
|
|
|
NM_024334.3(TMEM43):c.334G>T (p.Ala112Ser)
|
|
|
NM_024334.3(TMEM43):c.348del (p.Arg117fs)
|
rs2124987856
|
|
NM_024334.3(TMEM43):c.370T>G (p.Trp124Gly)
|
|
|
NM_024334.3(TMEM43):c.409G>A (p.Gly137Arg)
|
|
|
NM_024334.3(TMEM43):c.410G>A (p.Gly137Glu)
|
rs760628106
|
|
NM_024334.3(TMEM43):c.41A>G (p.His14Arg)
|
|
|
NM_024334.3(TMEM43):c.424G>C (p.Glu142Gln)
|
rs145619906
|
|
NM_024334.3(TMEM43):c.458C>T (p.Ser153Leu)
|
rs1369869806
|
|
NM_024334.3(TMEM43):c.492G>C (p.Glu164Asp)
|
rs949064136
|
|
NM_024334.3(TMEM43):c.496G>A (p.Gly166Ser)
|
|
|
NM_024334.3(TMEM43):c.497G>T (p.Gly166Val)
|
|
|
NM_024334.3(TMEM43):c.541A>G (p.Thr181Ala)
|
|
|
NM_024334.3(TMEM43):c.545C>T (p.Ala182Val)
|
rs1394010451
|
|
NM_024334.3(TMEM43):c.626C>A (p.Ser209Tyr)
|
rs1553603146
|
|
NM_024334.3(TMEM43):c.646G>T (p.Val216Leu)
|
rs143735210
|
|
NM_024334.3(TMEM43):c.649G>A (p.Asp217Asn)
|
rs2124990891
|
|
NM_024334.3(TMEM43):c.652A>G (p.Ile218Val)
|
|
|
NM_024334.3(TMEM43):c.658C>A (p.Arg220Ser)
|
|
|
NM_024334.3(TMEM43):c.675C>G (p.Phe225Leu)
|
rs1559361776
|
|
NM_024334.3(TMEM43):c.694A>G (p.Lys232Glu)
|
|
|
NM_024334.3(TMEM43):c.706-1G>T
|
|
|
NM_024334.3(TMEM43):c.706G>A (p.Val236Met)
|
|
|
NM_024334.3(TMEM43):c.718_719delinsGA (p.Arg240Asp)
|
rs1553603172
|
|
NM_024334.3(TMEM43):c.724del (p.Ser242fs)
|
|
|
NM_024334.3(TMEM43):c.749dup (p.Asp251fs)
|
rs1695151947
|
|
NM_024334.3(TMEM43):c.833A>G (p.Lys278Arg)
|
rs1427535931
|
|
NM_024334.3(TMEM43):c.861C>G (p.His287Gln)
|
rs886039048
|
|
NM_024334.3(TMEM43):c.862C>T (p.His288Tyr)
|
rs771028028
|
|
NM_024334.3(TMEM43):c.889T>A (p.Phe297Ile)
|
rs990243563
|
|
NM_024334.3(TMEM43):c.891T>G (p.Phe297Leu)
|
|
|
NM_024334.3(TMEM43):c.905G>T (p.Arg302Met)
|
|
|
NM_024334.3(TMEM43):c.908G>A (p.Ser303Asn)
|
|
|
NM_024334.3(TMEM43):c.908_909delinsAT (p.Ser303Asn)
|
|
|
NM_024334.3(TMEM43):c.917T>C (p.Met306Thr)
|
|
|
NM_024334.3(TMEM43):c.917_918delinsCT (p.Met306Thr)
|
rs1553603453
|
|
NM_024334.3(TMEM43):c.918G>T (p.Met306Ile)
|
|
|
NM_024334.3(TMEM43):c.946T>A (p.Trp316Arg)
|
|
|
NM_024334.3(TMEM43):c.955A>G (p.Met319Val)
|
|
|
NM_024334.3(TMEM43):c.964G>A (p.Gly322Ser)
|
rs1231932407
|
|
NM_024334.3(TMEM43):c.970A>G (p.Asn324Asp)
|
rs1365389365
|
|
NM_024334.3(TMEM43):c.971del (p.Asn324fs)
|
rs1553603465
|
|
NM_024334.3(TMEM43):c.978G>T (p.Met326Ile)
|
|
|
NM_024422.6(DSC2):c.1070G>T (p.Arg357Leu)
|
|
|
NM_024422.6(DSC2):c.1072A>C (p.Thr358Pro)
|
|
|
NM_024422.6(DSC2):c.1073C>A (p.Thr358Asn)
|
rs139399951
|
|
NM_024422.6(DSC2):c.1084A>T (p.Thr362Ser)
|
rs1428685920
|
|
NM_024422.6(DSC2):c.1123C>G (p.Arg375Gly)
|
rs794728075
|
|
NM_024422.6(DSC2):c.1192G>A (p.Gly398Ser)
|
rs1060502991
|
|
NM_024422.6(DSC2):c.1204G>T (p.Gly402Cys)
|
rs1598583039
|
|
NM_024422.6(DSC2):c.1205G>T (p.Gly402Val)
|
|
|
NM_024422.6(DSC2):c.1239T>G (p.Asn413Lys)
|
rs765511398
|
|
NM_024422.6(DSC2):c.1301A>C (p.Gln434Pro)
|
|
|
NM_024422.6(DSC2):c.1307G>T (p.Gly436Val)
|
rs763981974
|
|
NM_024422.6(DSC2):c.1324C>T (p.Pro442Ser)
|
rs201480399
|
|
NM_024422.6(DSC2):c.1335A>C (p.Arg445Ser)
|
|
|
NM_024422.6(DSC2):c.1398T>A (p.Asp466Glu)
|
|
|
NM_024422.6(DSC2):c.1423A>T (p.Ile475Leu)
|
|
|
NM_024422.6(DSC2):c.1424T>C (p.Ile475Thr)
|
rs1022023137
|
|
NM_024422.6(DSC2):c.142C>T (p.Leu48Phe)
|
rs769776739
|
|
NM_024422.6(DSC2):c.1436G>A (p.Arg479His)
|
rs774641579
|
|
NM_024422.6(DSC2):c.1472A>G (p.Asn491Ser)
|
rs770114301
|
|
NM_024422.6(DSC2):c.1530A>C (p.Lys510Asn)
|
|
|
NM_024422.6(DSC2):c.1544C>T (p.Thr515Ile)
|
|
|
NM_024422.6(DSC2):c.158A>T (p.Asn53Ile)
|
|
|
NM_024422.6(DSC2):c.1601A>T (p.Asp534Val)
|
|
|
NM_024422.6(DSC2):c.1634ATA[1] (p.Asn546del)
|
rs1485939608
|
|
NM_024422.6(DSC2):c.1675T>C (p.Cys559Arg)
|
|
|
NM_024422.6(DSC2):c.1715A>T (p.Asp572Val)
|
rs1030017004
|
|
NM_024422.6(DSC2):c.1750A>G (p.Ile584Val)
|
rs755041461
|
|
NM_024422.6(DSC2):c.176C>T (p.Thr59Ile)
|
|
|
NM_024422.6(DSC2):c.1783G>T (p.Val595Phe)
|
|
|
NM_024422.6(DSC2):c.1819C>T (p.Pro607Ser)
|
|
|
NM_024422.6(DSC2):c.1823T>A (p.Phe608Tyr)
|
|
|
NM_024422.6(DSC2):c.1828T>C (p.Phe610Leu)
|
|
|
NM_024422.6(DSC2):c.182C>A (p.Ala61Glu)
|
rs758707293
|
|
NM_024422.6(DSC2):c.182C>G (p.Ala61Gly)
|
rs758707293
|
|
NM_024422.6(DSC2):c.1873C>G (p.Leu625Val)
|
|
|
NM_024422.6(DSC2):c.1900C>T (p.Arg634Cys)
|
rs1443409965
|
|
NM_024422.6(DSC2):c.1901G>T (p.Arg634Leu)
|
rs200475862
|
|
NM_024422.6(DSC2):c.1925C>T (p.Pro642Leu)
|
|
|
NM_024422.6(DSC2):c.1934C>T (p.Ser645Leu)
|
rs1339580561
|
|
NM_024422.6(DSC2):c.1939G>A (p.Val647Ile)
|
|
|
NM_024422.6(DSC2):c.1994A>G (p.Asp665Gly)
|
rs778236763
|
|
NM_024422.6(DSC2):c.2012_2013delinsCT (p.Cys671Ser)
|
rs869025387
|
|
NM_024422.6(DSC2):c.2038C>A (p.Arg680Ser)
|
rs757253682
|
|
NM_024422.6(DSC2):c.2063G>A (p.Gly688Glu)
|
|
|
NM_024422.6(DSC2):c.2125+1G>A
|
|
|
NM_024422.6(DSC2):c.2132T>A (p.Leu711Gln)
|
|
|
NM_024422.6(DSC2):c.2138C>A (p.Thr713Lys)
|
rs180863872
|
|
NM_024422.6(DSC2):c.216A>C (p.Gln72His)
|
rs767293228
|
|
NM_024422.6(DSC2):c.2185C>A (p.Pro729Thr)
|
rs1422818892
|
|
NM_024422.6(DSC2):c.2198C>T (p.Ala733Val)
|
rs886053695
|
|
NM_024422.6(DSC2):c.2255C>T (p.Ser752Phe)
|
|
|
NM_024422.6(DSC2):c.2276A>C (p.Gln759Pro)
|
|
|
NM_024422.6(DSC2):c.2279C>G (p.Thr760Ser)
|
rs1331111206
|
|
NM_024422.6(DSC2):c.2303T>C (p.Val768Ala)
|
|
|
NM_024422.6(DSC2):c.2344G>A (p.Glu782Lys)
|
rs866805043
|
|
NM_024422.6(DSC2):c.2359G>A (p.Val787Met)
|
rs1789053
|
|
NM_024422.6(DSC2):c.2365GGA[1] (p.Gly790del)
|
rs377272752
|
|
NM_024422.6(DSC2):c.236T>G (p.Val79Gly)
|
rs886038828
|
|
NM_024422.6(DSC2):c.2375A>G (p.Gln792Arg)
|
|
|
NM_024422.6(DSC2):c.2426G>A (p.Cys809Tyr)
|
|
|
NM_024422.6(DSC2):c.2438A>C (p.His813Pro)
|
rs766881629
|
|
NM_024422.6(DSC2):c.2440A>T (p.Thr814Ser)
|
|
|
NM_024422.6(DSC2):c.2456G>A (p.Cys819Tyr)
|
rs773961399
|
|
NM_024422.6(DSC2):c.245C>A (p.Thr82Lys)
|
|
|
NM_024422.6(DSC2):c.2478G>C (p.Trp826Cys)
|
|
|
NM_024422.6(DSC2):c.248A>G (p.Asn83Ser)
|
|
|
NM_024422.6(DSC2):c.2548G>T (p.Ala850Ser)
|
|
|
NM_024422.6(DSC2):c.2548delinsTT (p.Ala850fs)
|
rs794728077
|
|
NM_024422.6(DSC2):c.2582_2585dup (p.Gly863fs)
|
rs780970079
|
|
NM_024422.6(DSC2):c.2588G>T (p.Gly863Val)
|
|
|
NM_024422.6(DSC2):c.2638G>A (p.Gly880Arg)
|
rs1986686862
|
|
NM_024422.6(DSC2):c.275G>T (p.Arg92Ile)
|
|
|
NM_024422.6(DSC2):c.296C>A (p.Ser99Tyr)
|
|
|
NM_024422.6(DSC2):c.309C>A (p.Asn103Lys)
|
rs1484070582
|
|
NM_024422.6(DSC2):c.30G>T (p.Trp10Cys)
|
rs1555641322
|
|
NM_024422.6(DSC2):c.310C>A (p.Gln104Lys)
|
|
|
NM_024422.6(DSC2):c.322A>G (p.Lys108Glu)
|
|
|
NM_024422.6(DSC2):c.451C>A (p.Pro151Thr)
|
|
|
NM_024422.6(DSC2):c.475-5T>C
|
rs1555639919
|
|
NM_024422.6(DSC2):c.574A>C (p.Thr192Pro)
|
rs876657789
|
|
NM_024422.6(DSC2):c.68C>T (p.Ala23Val)
|
|
|
NM_024422.6(DSC2):c.737A>G (p.Glu246Gly)
|
rs1057524741
|
|
NM_024422.6(DSC2):c.754A>G (p.Ile252Val)
|
rs751996698
|
|
NM_024422.6(DSC2):c.776G>A (p.Gly259Asp)
|
rs1335645459
|
|
NM_024422.6(DSC2):c.782C>T (p.Thr261Ile)
|
|
|
NM_024422.6(DSC2):c.812A>T (p.Asp271Val)
|
rs1987412406
|
|
NM_024422.6(DSC2):c.832A>G (p.Thr278Ala)
|
|
|
NM_024422.6(DSC2):c.83C>A (p.Ala28Asp)
|
|
|
NM_024422.6(DSC2):c.860A>C (p.Gln287Pro)
|
|
|
NM_024422.6(DSC2):c.861_862delinsCT (p.Gln287_Val288delinsHisLeu)
|
rs1555639508
|
|
NM_024422.6(DSC2):c.863T>G (p.Val288Gly)
|
|
|
NM_024422.6(DSC2):c.932T>C (p.Leu311Pro)
|
|
|
NM_024422.6(DSC2):c.947T>C (p.Ile316Thr)
|
|
|
NM_024422.6(DSC2):c.960G>C (p.Gln320His)
|
|
|
NM_024422.6(DSC2):c.968T>C (p.Ile323Thr)
|
|
|
NM_024422.6(DSC2):c.994T>C (p.Tyr332His)
|
rs794728067
|
|
NM_030662.4(MAP2K2):c.1021G>A (p.Asp341Asn)
|
rs564067943
|
|
NM_030662.4(MAP2K2):c.1063G>C (p.Ala355Pro)
|
|
|
NM_030662.4(MAP2K2):c.1117G>A (p.Glu373Lys)
|
|
|
NM_030662.4(MAP2K2):c.118A>C (p.Lys40Gln)
|
|
|
NM_030662.4(MAP2K2):c.377A>G (p.Asn126Ser)
|
|
|
NM_030662.4(MAP2K2):c.391G>T (p.Val131Leu)
|
|
|
NM_030662.4(MAP2K2):c.415A>G (p.Ser139Gly)
|
|
|
NM_030662.4(MAP2K2):c.44A>C (p.Asn15Thr)
|
|
|
NM_030662.4(MAP2K2):c.484G>A (p.Ala162Thr)
|
|
|
NM_030662.4(MAP2K2):c.526G>A (p.Ala176Thr)
|
rs767381558
|
|
NM_030662.4(MAP2K2):c.577C>T (p.Arg193Ter)
|
rs2041005560
|
|
NM_030662.4(MAP2K2):c.578G>A (p.Arg193Gln)
|
rs530342723
|
|
NM_030662.4(MAP2K2):c.643G>T (p.Val215Leu)
|
|
|
NM_030662.4(MAP2K2):c.649G>A (p.Gly217Ser)
|
rs756402608
|
|
NM_030662.4(MAP2K2):c.674A>C (p.Asn225Thr)
|
|
|
NM_030662.4(MAP2K2):c.712C>T (p.Arg238Trp)
|
|
|
NM_030662.4(MAP2K2):c.740A>C (p.Gln247Pro)
|
rs1226120513
|
|
NM_030662.4(MAP2K2):c.743C>G (p.Ser248Trp)
|
|
|
NM_030662.4(MAP2K2):c.806C>G (p.Pro269Arg)
|
rs368064728
|
|
NM_030662.4(MAP2K2):c.813C>G (p.Asp271Glu)
|
rs201726622
|
|
NM_030662.4(MAP2K2):c.865G>A (p.Gly289Arg)
|
rs1555696725
|
|
NM_030662.4(MAP2K2):c.872C>G (p.Pro291Arg)
|
|
|
NM_030662.4(MAP2K2):c.872C>T (p.Pro291Leu)
|
rs752436529
|
|
NM_030662.4(MAP2K2):c.899C>A (p.Pro300His)
|
|
|
NM_030662.4(MAP2K2):c.908G>A (p.Arg303His)
|
rs1251433138
|
|
NM_030662.4(MAP2K2):c.969C>G (p.Asp323Glu)
|
rs768656734
|
|
NM_030662.4(MAP2K2):c.986C>T (p.Pro329Leu)
|
rs2040904724
|
|
NM_032578.4(MYPN):c.101G>A (p.Arg34Gln)
|
rs730880168
|
|
NM_032578.4(MYPN):c.1042G>A (p.Gly348Arg)
|
|
|
NM_032578.4(MYPN):c.108del (p.Glu36fs)
|
|
|
NM_032578.4(MYPN):c.1112A>G (p.Asn371Ser)
|
|
|
NM_032578.4(MYPN):c.1161T>C (p.Pro387=)
|
|
|
NM_032578.4(MYPN):c.1162C>T (p.Pro388Ser)
|
|
|
NM_032578.4(MYPN):c.118A>G (p.Asn40Asp)
|
|
|
NM_032578.4(MYPN):c.1196C>A (p.Pro399His)
|
|
|
NM_032578.4(MYPN):c.1196C>G (p.Pro399Arg)
|
|
|
NM_032578.4(MYPN):c.119A>T (p.Asn40Ile)
|
rs2133993599
|
|
NM_032578.4(MYPN):c.120C>G (p.Asn40Lys)
|
|
|
NM_032578.4(MYPN):c.1222C>G (p.Pro408Ala)
|
|
|
NM_032578.4(MYPN):c.1231G>A (p.Ala411Thr)
|
|
|
NM_032578.4(MYPN):c.1246-1G>T
|
|
|
NM_032578.4(MYPN):c.1253G>A (p.Ser418Asn)
|
rs1008949819
|
|
NM_032578.4(MYPN):c.128A>G (p.His43Arg)
|
rs752439535
|
|
NM_032578.4(MYPN):c.1304C>T (p.Pro435Leu)
|
rs1416910479
|
|
NM_032578.4(MYPN):c.133G>A (p.Gly45Ser)
|
rs1297861595
|
|
NM_032578.4(MYPN):c.1350G>T (p.Gln450His)
|
|
|
NM_032578.4(MYPN):c.1382C>T (p.Ala461Val)
|
|
|
NM_032578.4(MYPN):c.1417A>G (p.Thr473Ala)
|
|
|
NM_032578.4(MYPN):c.1424T>C (p.Ile475Thr)
|
rs754505802
|
|
NM_032578.4(MYPN):c.1462C>A (p.Pro488Thr)
|
|
|
NM_032578.4(MYPN):c.1475C>T (p.Ala492Val)
|
|
|
NM_032578.4(MYPN):c.1495A>G (p.Thr499Ala)
|
|
|
NM_032578.4(MYPN):c.149C>A (p.Ala50Asp)
|
|
|
NM_032578.4(MYPN):c.1516T>C (p.Phe506Leu)
|
|
|
NM_032578.4(MYPN):c.1522G>A (p.Glu508Lys)
|
|
|
NM_032578.4(MYPN):c.1549G>A (p.Ala517Thr)
|
|
|
NM_032578.4(MYPN):c.1586A>C (p.Gln529Pro)
|
rs1158070956
|
|
NM_032578.4(MYPN):c.1588C>G (p.Leu530Val)
|
|
|
NM_032578.4(MYPN):c.158G>T (p.Gly53Val)
|
|
|
NM_032578.4(MYPN):c.1655A>G (p.Asn552Ser)
|
|
|
NM_032578.4(MYPN):c.1690C>A (p.His564Asn)
|
|
|
NM_032578.4(MYPN):c.1714C>G (p.Gln572Glu)
|
|
|
NM_032578.4(MYPN):c.1717C>G (p.Pro573Ala)
|
|
|
NM_032578.4(MYPN):c.1735G>A (p.Glu579Lys)
|
|
|
NM_032578.4(MYPN):c.1741G>C (p.Val581Leu)
|
rs1464184643
|
|
NM_032578.4(MYPN):c.1766G>A (p.Arg589Gln)
|
|
|
NM_032578.4(MYPN):c.1793T>C (p.Val598Ala)
|
|
|
NM_032578.4(MYPN):c.17T>C (p.Ile6Thr)
|
rs774766927
|
|
NM_032578.4(MYPN):c.1805T>C (p.Leu602Pro)
|
rs779148735
|
|
NM_032578.4(MYPN):c.1847G>T (p.Gly616Val)
|
|
|
NM_032578.4(MYPN):c.1856C>T (p.Thr619Ile)
|
rs1329226753
|
|
NM_032578.4(MYPN):c.1864C>T (p.Gln622Ter)
|
rs1226400049
|
|
NM_032578.4(MYPN):c.1880C>A (p.Ser627Tyr)
|
|
|
NM_032578.4(MYPN):c.1898A>G (p.Asn633Ser)
|
|
|
NM_032578.4(MYPN):c.1906G>A (p.Ala636Thr)
|
|
|
NM_032578.4(MYPN):c.1974-3C>T
|
|
|
NM_032578.4(MYPN):c.1984C>G (p.Gln662Glu)
|
|
|
NM_032578.4(MYPN):c.1995G>C (p.Gln665His)
|
rs753544126
|
|
NM_032578.4(MYPN):c.2038C>G (p.Pro680Ala)
|
|
|
NM_032578.4(MYPN):c.2066C>T (p.Pro689Leu)
|
rs1554846787
|
|
NM_032578.4(MYPN):c.2076G>T (p.Met692Ile)
|
|
|
NM_032578.4(MYPN):c.2143T>C (p.Ser715Pro)
|
|
|
NM_032578.4(MYPN):c.2163_2164delinsAT (p.Arg722Trp)
|
|
|
NM_032578.4(MYPN):c.2164C>G (p.Arg722Gly)
|
rs749716608
|
|
NM_032578.4(MYPN):c.2182C>T (p.Pro728Ser)
|
|
|
NM_032578.4(MYPN):c.2195C>T (p.Thr732Ile)
|
|
|
NM_032578.4(MYPN):c.219C>A (p.Asp73Glu)
|
rs960869945
|
|
NM_032578.4(MYPN):c.2219C>T (p.Ser740Phe)
|
|
|
NM_032578.4(MYPN):c.2222G>A (p.Ser741Asn)
|
|
|
NM_032578.4(MYPN):c.2246G>C (p.Ser749Thr)
|
|
|
NM_032578.4(MYPN):c.2317A>G (p.Lys773Glu)
|
rs760331604
|
|
NM_032578.4(MYPN):c.2342A>G (p.Gln781Arg)
|
|
|
NM_032578.4(MYPN):c.2347G>A (p.Glu783Lys)
|
|
|
NM_032578.4(MYPN):c.2351C>G (p.Pro784Arg)
|
|
|
NM_032578.4(MYPN):c.23C>T (p.Ala8Val)
|
|
|
NM_032578.4(MYPN):c.2408G>A (p.Ser803Asn)
|
|
|
NM_032578.4(MYPN):c.2416C>T (p.Gln806Ter)
|
|
|
NM_032578.4(MYPN):c.2438C>T (p.Ser813Phe)
|
|
|
NM_032578.4(MYPN):c.2503C>A (p.Pro835Thr)
|
rs1196958004
|
|
NM_032578.4(MYPN):c.2510T>A (p.Leu837His)
|
|
|
NM_032578.4(MYPN):c.2518A>G (p.Ile840Val)
|
|
|
NM_032578.4(MYPN):c.2534C>A (p.Ala845Asp)
|
|
|
NM_032578.4(MYPN):c.2534C>T (p.Ala845Val)
|
|
|
NM_032578.4(MYPN):c.2540G>A (p.Gly847Glu)
|
rs181848049
|
|
NM_032578.4(MYPN):c.2554G>A (p.Ala852Thr)
|
|
|
NM_032578.4(MYPN):c.2569T>A (p.Ser857Thr)
|
|
|
NM_032578.4(MYPN):c.2581G>A (p.Ala861Thr)
|
|
|
NM_032578.4(MYPN):c.2630G>A (p.Arg877His)
|
rs371221569
|
|
NM_032578.4(MYPN):c.2643C>A (p.Asn881Lys)
|
|
|
NM_032578.4(MYPN):c.2669A>G (p.Lys890Arg)
|
|
|
NM_032578.4(MYPN):c.2683G>T (p.Asp895Tyr)
|
|
|
NM_032578.4(MYPN):c.269A>T (p.Lys90Met)
|
|
|
NM_032578.4(MYPN):c.2756G>A (p.Arg919His)
|
rs193022869
|
|
NM_032578.4(MYPN):c.2756G>T (p.Arg919Leu)
|
rs193022869
|
|
NM_032578.4(MYPN):c.2801A>G (p.His934Arg)
|
|
|
NM_032578.4(MYPN):c.2908G>A (p.Gly970Arg)
|
|
|
NM_032578.4(MYPN):c.2926-1G>C
|
|
|
NM_032578.4(MYPN):c.2926G>T (p.Val976Phe)
|
rs943422668
|
|
NM_032578.4(MYPN):c.295C>T (p.Arg99Ter)
|
rs756823228
|
|
NM_032578.4(MYPN):c.2968G>T (p.Glu990Ter)
|
rs755507922
|
|
NM_032578.4(MYPN):c.2987G>A (p.Arg996Gln)
|
|
|
NM_032578.4(MYPN):c.2995G>A (p.Asp999Asn)
|
|
|
NM_032578.4(MYPN):c.3008C>G (p.Ser1003Cys)
|
|
|
NM_032578.4(MYPN):c.3023C>T (p.Ser1008Phe)
|
|
|
NM_032578.4(MYPN):c.304C>G (p.Pro102Ala)
|
|
|
NM_032578.4(MYPN):c.3058A>G (p.Met1020Val)
|
|
|
NM_032578.4(MYPN):c.3075+4G>A
|
|
|
NM_032578.4(MYPN):c.3099C>G (p.His1033Gln)
|
|
|
NM_032578.4(MYPN):c.3122T>A (p.Ile1041Asn)
|
rs754227127
|
|
NM_032578.4(MYPN):c.3146G>A (p.Gly1049Asp)
|
rs878855165
|
|
NM_032578.4(MYPN):c.3165A>T (p.Arg1055Ser)
|
|
|
NM_032578.4(MYPN):c.3169C>T (p.Arg1057Ter)
|
rs1057519572
|
|
NM_032578.4(MYPN):c.3170G>A (p.Arg1057Gln)
|
rs150414382
|
|
NM_032578.4(MYPN):c.3185A>C (p.Asp1062Ala)
|
|
|
NM_032578.4(MYPN):c.319C>T (p.His107Tyr)
|
|
|
NM_032578.4(MYPN):c.3246G>T (p.Met1082Ile)
|
|
|
NM_032578.4(MYPN):c.3257A>G (p.Glu1086Gly)
|
|
|
NM_032578.4(MYPN):c.3271C>T (p.Arg1091Trp)
|
rs754707304
|
|
NM_032578.4(MYPN):c.3285+5A>G
|
|
|
NM_032578.4(MYPN):c.3299C>T (p.Pro1100Leu)
|
|
|
NM_032578.4(MYPN):c.3302C>A (p.Pro1101His)
|
|
|
NM_032578.4(MYPN):c.3329G>A (p.Gly1110Asp)
|
|
|
NM_032578.4(MYPN):c.3337G>A (p.Val1113Met)
|
|
|
NM_032578.4(MYPN):c.3415C>T (p.Arg1139Cys)
|
|
|
NM_032578.4(MYPN):c.3431A>G (p.Tyr1144Cys)
|
rs1589612099
|
|
NM_032578.4(MYPN):c.3442G>A (p.Ala1148Thr)
|
rs200390297
|
|
NM_032578.4(MYPN):c.3442G>T (p.Ala1148Ser)
|
rs200390297
|
|
NM_032578.4(MYPN):c.3457G>T (p.Gly1153Trp)
|
|
|
NM_032578.4(MYPN):c.3464A>G (p.Asn1155Ser)
|
|
|
NM_032578.4(MYPN):c.3476T>A (p.Leu1159Gln)
|
rs1422495386
|
|
NM_032578.4(MYPN):c.3479A>G (p.Glu1160Gly)
|
|
|
NM_032578.4(MYPN):c.3490G>T (p.Val1164Leu)
|
|
|
NM_032578.4(MYPN):c.3493+1G>A
|
|
|
NM_032578.4(MYPN):c.34A>G (p.Ile12Val)
|
rs1564646814
|
|
NM_032578.4(MYPN):c.3515C>A (p.Pro1172His)
|
|
|
NM_032578.4(MYPN):c.3521T>C (p.Ile1174Thr)
|
|
|
NM_032578.4(MYPN):c.3524T>C (p.Leu1175Pro)
|
rs1473139800
|
|
NM_032578.4(MYPN):c.3539A>T (p.Asn1180Ile)
|
|
|
NM_032578.4(MYPN):c.3553G>A (p.Glu1185Lys)
|
|
|
NM_032578.4(MYPN):c.3566T>C (p.Val1189Ala)
|
|
|
NM_032578.4(MYPN):c.3570A>C (p.Arg1190Ser)
|
rs373439318
|
|
NM_032578.4(MYPN):c.3580C>T (p.Arg1194Cys)
|
rs762310456
|
|
NM_032578.4(MYPN):c.3581G>A (p.Arg1194His)
|
|
|
NM_032578.4(MYPN):c.3595C>T (p.Pro1199Ser)
|
|
|
NM_032578.4(MYPN):c.359A>G (p.Asp120Gly)
|
|
|
NM_032578.4(MYPN):c.360T>A (p.Asp120Glu)
|
rs794729068
|
|
NM_032578.4(MYPN):c.3618G>T (p.Lys1206Asn)
|
|
|
NM_032578.4(MYPN):c.3634A>G (p.Ile1212Val)
|
|
|
NM_032578.4(MYPN):c.3635T>A (p.Ile1212Asn)
|
|
|
NM_032578.4(MYPN):c.363C>G (p.Asn121Lys)
|
|
|
NM_032578.4(MYPN):c.3646A>G (p.Arg1216Gly)
|
rs1589614570
|
|
NM_032578.4(MYPN):c.3660-3C>T
|
|
|
NM_032578.4(MYPN):c.3738G>C (p.Leu1246Phe)
|
|
|
NM_032578.4(MYPN):c.3758G>A (p.Gly1253Asp)
|
|
|
NM_032578.4(MYPN):c.3789A>G (p.Ile1263Met)
|
|
|
NM_032578.4(MYPN):c.3793G>A (p.Ala1265Thr)
|
rs199476416
|
|
NM_032578.4(MYPN):c.3808C>G (p.Gln1270Glu)
|
rs730880169
|
|
NM_032578.4(MYPN):c.3809A>G (p.Gln1270Arg)
|
|
|
NM_032578.4(MYPN):c.3839G>A (p.Ser1280Asn)
|
|
|
NM_032578.4(MYPN):c.3854G>A (p.Gly1285Glu)
|
|
|
NM_032578.4(MYPN):c.3863C>T (p.Thr1288Ile)
|
|
|
NM_032578.4(MYPN):c.3868A>G (p.Lys1290Glu)
|
|
|
NM_032578.4(MYPN):c.391A>G (p.Ser131Gly)
|
|
|
NM_032578.4(MYPN):c.3929C>G (p.Ser1310Cys)
|
|
|
NM_032578.4(MYPN):c.394C>A (p.Pro132Thr)
|
|
|
NM_032578.4(MYPN):c.398dup (p.Glu134fs)
|
|
|
NM_032578.4(MYPN):c.404C>G (p.Ala135Gly)
|
rs141983653
|
|
NM_032578.4(MYPN):c.509C>G (p.Ser170Cys)
|
|
|
NM_032578.4(MYPN):c.50G>A (p.Arg17Lys)
|
|
|
NM_032578.4(MYPN):c.518T>A (p.Ile173Asn)
|
rs2042249791
|
|
NM_032578.4(MYPN):c.539A>T (p.Asn180Ile)
|
|
|
NM_032578.4(MYPN):c.576G>T (p.Met192Ile)
|
|
|
NM_032578.4(MYPN):c.625TCT[1] (p.Ser210del)
|
rs749944961
|
|
NM_032578.4(MYPN):c.638T>A (p.Ile213Asn)
|
|
|
NM_032578.4(MYPN):c.638T>C (p.Ile213Thr)
|
|
|
NM_032578.4(MYPN):c.647C>T (p.Pro216Leu)
|
|
|
NM_032578.4(MYPN):c.662A>G (p.Asp221Gly)
|
rs185841477
|
|
NM_032578.4(MYPN):c.662A>T (p.Asp221Val)
|
rs185841477
|
|
NM_032578.4(MYPN):c.67G>A (p.Glu23Lys)
|
|
|
NM_032578.4(MYPN):c.702G>C (p.Lys234Asn)
|
rs1589529109
|
|
NM_032578.4(MYPN):c.707G>A (p.Arg236His)
|
|
|
NM_032578.4(MYPN):c.716A>G (p.Glu239Gly)
|
|
|
NM_032578.4(MYPN):c.729T>G (p.Ser243Arg)
|
rs794727304
|
|
NM_032578.4(MYPN):c.746A>G (p.Asp249Gly)
|
|
|
NM_032578.4(MYPN):c.791C>T (p.Pro264Leu)
|
|
|
NM_032578.4(MYPN):c.794T>C (p.Leu265Pro)
|
rs766534329
|
|
NM_032578.4(MYPN):c.805C>A (p.Pro269Thr)
|
rs560119421
|
|
NM_032578.4(MYPN):c.832A>G (p.Arg278Gly)
|
|
|
NM_032578.4(MYPN):c.842C>A (p.Pro281Gln)
|
|
|
NM_032578.4(MYPN):c.872T>A (p.Ile291Lys)
|
|
|
NM_032578.4(MYPN):c.94_95del (p.Arg32fs)
|
|
|
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.162T>G (p.Phe54Leu)
|
|
|
NM_033337.3(CAV3):c.164A>G (p.Asp55Gly)
|
|
|
NM_033337.3(CAV3):c.245T>C (p.Val82Ala)
|
|
|
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.284T>A (p.Ile95Asn)
|
|
|
NM_033337.3(CAV3):c.316T>C (p.Cys106Arg)
|
|
|
NM_033337.3(CAV3):c.32C>T (p.Ala11Val)
|
rs867194464
|
|
NM_033337.3(CAV3):c.337G>A (p.Glu113Lys)
|
rs921802744
|
|
NM_033337.3(CAV3):c.361T>A (p.Tyr121Asn)
|
|
|
NM_033337.3(CAV3):c.372C>G (p.Cys124Trp)
|
|
|
NM_033337.3(CAV3):c.37A>G (p.Ile13Val)
|
|
|
NM_033337.3(CAV3):c.400G>C (p.Ala134Pro)
|
|
|
NM_033337.3(CAV3):c.401C>A (p.Ala134Glu)
|
|
|
NM_033337.3(CAV3):c.46G>A (p.Asp16Asn)
|
rs1707652520
|
|
NM_033337.3(CAV3):c.57C>A (p.Cys19Ter)
|
rs1182984115
|
|
NM_033337.3(CAV3):c.60G>T (p.Lys20Asn)
|
|
|
NM_033337.3(CAV3):c.95T>C (p.Ile32Thr)
|
|
|
NM_080647.1(TBX1):c.14C>T (p.Thr5Ile)
|
|
|
NM_080647.1(TBX1):c.26A>T (p.Asp9Val)
|
|
|
NM_130468.4(CHST14):c.1000G>A (p.Glu334Lys)
|
|
|
NM_130468.4(CHST14):c.1007T>C (p.Leu336Pro)
|
|
|
NM_130468.4(CHST14):c.1019T>C (p.Leu340Ser)
|
|
|
NM_130468.4(CHST14):c.1021T>C (p.Cys341Arg)
|
|
|
NM_130468.4(CHST14):c.1033C>T (p.Arg345Trp)
|
rs372422727
|
|
NM_130468.4(CHST14):c.1046A>T (p.Gln349Leu)
|
|
|
NM_130468.4(CHST14):c.104G>C (p.Gly35Ala)
|
|
|
NM_130468.4(CHST14):c.10C>T (p.Arg4Cys)
|
|
|
NM_130468.4(CHST14):c.1109C>G (p.Thr370Ser)
|
|
|
NM_130468.4(CHST14):c.1117G>T (p.Ala373Ser)
|
rs748434505
|
|
NM_130468.4(CHST14):c.125C>T (p.Pro42Leu)
|
|
|
NM_130468.4(CHST14):c.183G>C (p.Glu61Asp)
|
|
|
NM_130468.4(CHST14):c.23C>T (p.Pro8Leu)
|
|
|
NM_130468.4(CHST14):c.289G>C (p.Ala97Pro)
|
|
|
NM_130468.4(CHST14):c.301G>A (p.Asp101Asn)
|
|
|
NM_130468.4(CHST14):c.34C>T (p.Pro12Ser)
|
|
|
NM_130468.4(CHST14):c.352G>A (p.Gly118Arg)
|
|
|
NM_130468.4(CHST14):c.371G>A (p.Arg124Gln)
|
|
|
NM_130468.4(CHST14):c.37A>G (p.Asn13Asp)
|
|
|
NM_130468.4(CHST14):c.427G>A (p.Val143Ile)
|
|
|
NM_130468.4(CHST14):c.436C>G (p.Arg146Gly)
|
rs1007569346
|
|
NM_130468.4(CHST14):c.43G>C (p.Ala15Pro)
|
rs1235160320
|
|
NM_130468.4(CHST14):c.43G>T (p.Ala15Ser)
|
|
|
NM_130468.4(CHST14):c.448C>T (p.Leu150Phe)
|
|
|
NM_130468.4(CHST14):c.48G>T (p.Glu16Asp)
|
|
|
NM_130468.4(CHST14):c.49C>T (p.Pro17Ser)
|
|
|
NM_130468.4(CHST14):c.507_508delinsTT (p.Ala170Ser)
|
rs1894350607
|
|
NM_130468.4(CHST14):c.594G>C (p.Glu198Asp)
|
|
|
NM_130468.4(CHST14):c.59G>C (p.Arg20Pro)
|
|
|
NM_130468.4(CHST14):c.61G>T (p.Ala21Ser)
|
|
|
NM_130468.4(CHST14):c.652C>T (p.Arg218Cys)
|
|
|
NM_130468.4(CHST14):c.655C>T (p.Leu219Phe)
|
|
|
NM_130468.4(CHST14):c.686A>G (p.Glu229Gly)
|
rs1043019552
|
|
NM_130468.4(CHST14):c.691C>G (p.Arg231Gly)
|
|
|
NM_130468.4(CHST14):c.710A>G (p.Tyr237Cys)
|
|
|
NM_130468.4(CHST14):c.71G>T (p.Arg24Leu)
|
|
|
NM_130468.4(CHST14):c.73G>T (p.Ala25Ser)
|
|
|
NM_130468.4(CHST14):c.764G>C (p.Gly255Ala)
|
|
|
NM_130468.4(CHST14):c.778T>C (p.Phe260Leu)
|
|
|
NM_130468.4(CHST14):c.799C>G (p.Leu267Val)
|
|
|
NM_130468.4(CHST14):c.83G>T (p.Gly28Val)
|
|
|
NM_130468.4(CHST14):c.863C>T (p.Pro288Leu)
|
|
|
NM_130468.4(CHST14):c.88G>A (p.Ala30Thr)
|
|
|
NM_130468.4(CHST14):c.94G>C (p.Ala32Pro)
|
|
|
NM_130468.4(CHST14):c.95C>T (p.Ala32Val)
|
|
|
NM_130468.4(CHST14):c.970C>T (p.Arg324Cys)
|
|
|
NM_130468.4(CHST14):c.971G>A (p.Arg324His)
|
|
|
NM_130468.4(CHST14):c.985C>T (p.Arg329Trp)
|
|
|
NM_133378.4:c.86951_86953delGGA
|
|
|
NM_144573.3(NEXN):c.2026_*1del
|
rs794729094
|
|
NM_144573.3:c.1216_1217insALU
|
|
|
NM_144573.4(NEXN):c.-1C>T
|
|
|
NM_144573.4(NEXN):c.1002_1004del (p.Arg336del)
|
rs794729090
|
|
NM_144573.4(NEXN):c.1004G>A (p.Arg335Lys)
|
|
|
NM_144573.4(NEXN):c.1014G>C (p.Glu338Asp)
|
|
|
NM_144573.4(NEXN):c.1015G>A (p.Glu339Lys)
|
|
|
NM_144573.4(NEXN):c.1021AAG[1] (p.Lys342del)
|
|
|
NM_144573.4(NEXN):c.1024A>G (p.Lys342Glu)
|
|
|
NM_144573.4(NEXN):c.1025A>C (p.Lys342Thr)
|
|
|
NM_144573.4(NEXN):c.1028C>T (p.Ala343Val)
|
rs769073940
|
|
NM_144573.4(NEXN):c.1030T>G (p.Phe344Val)
|
|
|
NM_144573.4(NEXN):c.103T>G (p.Phe35Val)
|
|
|
NM_144573.4(NEXN):c.1051A>G (p.Met351Val)
|
|
|
NM_144573.4(NEXN):c.1055T>C (p.Val352Ala)
|
rs1040085867
|
|
NM_144573.4(NEXN):c.1064A>G (p.Asp355Gly)
|
|
|
NM_144573.4(NEXN):c.1070C>T (p.Ser357Phe)
|
|
|
NM_144573.4(NEXN):c.1073C>T (p.Pro358Leu)
|
rs755252743
|
|
NM_144573.4(NEXN):c.1121T>G (p.Leu374Arg)
|
|
|
NM_144573.4(NEXN):c.1162G>A (p.Glu388Lys)
|
|
|
NM_144573.4(NEXN):c.1175G>T (p.Arg392Leu)
|
|
|
NM_144573.4(NEXN):c.1186G>A (p.Glu396Lys)
|
|
|
NM_144573.4(NEXN):c.1201C>G (p.Leu401Val)
|
|
|
NM_144573.4(NEXN):c.1202T>C (p.Leu401Pro)
|
|
|
NM_144573.4(NEXN):c.1249G>A (p.Glu417Lys)
|
|
|
NM_144573.4(NEXN):c.1316G>A (p.Arg439Lys)
|
|
|
NM_144573.4(NEXN):c.1385A>T (p.Glu462Val)
|
|
|
NM_144573.4(NEXN):c.1390C>T (p.Gln464Ter)
|
|
|
NM_144573.4(NEXN):c.1400del (p.Ile467fs)
|
|
|
NM_144573.4(NEXN):c.1401AGA[2] (p.Glu470del)
|
rs397517846
|
|
NM_144573.4(NEXN):c.1407A>C (p.Glu469Asp)
|
|
|
NM_144573.4(NEXN):c.1407delinsGC (p.Glu470fs)
|
|
|
NM_144573.4(NEXN):c.1417A>G (p.Arg473Gly)
|
|
|
NM_144573.4(NEXN):c.142del (p.Arg48fs)
|
|
|
NM_144573.4(NEXN):c.1430T>G (p.Ile477Ser)
|
rs727504658
|
|
NM_144573.4(NEXN):c.1457C>G (p.Ala486Gly)
|
rs397517847
|
|
NM_144573.4(NEXN):c.1473G>A (p.Glu491=)
|
|
|
NM_144573.4(NEXN):c.1477G>A (p.Asp493Asn)
|
rs1553241790
|
|
NM_144573.4(NEXN):c.1478ATG[1] (p.Asp494del)
|
rs1064796362
|
|
NM_144573.4(NEXN):c.1481A>T (p.Asp494Val)
|
rs750183004
|
|
NM_144573.4(NEXN):c.1484T>C (p.Val495Ala)
|
|
|
NM_144573.4(NEXN):c.1502del (p.Arg501fs)
|
rs1425668712
|
|
NM_144573.4(NEXN):c.1510G>A (p.Glu504Lys)
|
|
|
NM_144573.4(NEXN):c.1537A>G (p.Met513Val)
|
|
|
NM_144573.4(NEXN):c.1568C>T (p.Ala523Val)
|
|
|
NM_144573.4(NEXN):c.1573GAA[3] (p.Glu528del)
|
rs764505909
|
|
NM_144573.4(NEXN):c.1589_1590del (p.Arg530fs)
|
rs869025492
|
|
NM_144573.4(NEXN):c.1604A>G (p.Gln535Arg)
|
|
|
NM_144573.4(NEXN):c.1634G>C (p.Arg545Thr)
|
|
|
NM_144573.4(NEXN):c.1652T>C (p.Leu551Pro)
|
|
|
NM_144573.4(NEXN):c.1666G>C (p.Glu556Gln)
|
|
|
NM_144573.4(NEXN):c.1671GGA[5] (p.Glu562dup)
|
rs397517848
|
|
NM_144573.4(NEXN):c.1671_1672insCTT (p.Glu557_Glu558insLeu)
|
|
|
NM_144573.4(NEXN):c.1672G>A (p.Glu558Lys)
|
rs927477236
|
|
NM_144573.4(NEXN):c.167GAA[1] (p.Arg57del)
|
rs1435048653
|
|
NM_144573.4(NEXN):c.1744C>T (p.Pro582Ser)
|
|
|
NM_144573.4(NEXN):c.1757A>G (p.Lys586Arg)
|
|
|
NM_144573.4(NEXN):c.176A>G (p.Glu59Gly)
|
rs1219781969
|
|
NM_144573.4(NEXN):c.1774T>A (p.Ser592Thr)
|
|
|
NM_144573.4(NEXN):c.1789G>A (p.Glu597Lys)
|
|
|
NM_144573.4(NEXN):c.1796T>G (p.Val599Gly)
|
|
|
NM_144573.4(NEXN):c.1819G>A (p.Gly607Arg)
|
|
|
NM_144573.4(NEXN):c.1820_1822del (p.Gly607del)
|
rs876657928
|
|
NM_144573.4(NEXN):c.1826C>G (p.Pro609Arg)
|
|
|
NM_144573.4(NEXN):c.1855G>A (p.Gly619Arg)
|
|
|
NM_144573.4(NEXN):c.1867C>T (p.Gln623Ter)
|
|
|
NM_144573.4(NEXN):c.1898G>C (p.Arg633Thr)
|
|
|
NM_144573.4(NEXN):c.1909_1912del (p.Tyr637fs)
|
rs775629965
|
|
NM_144573.4(NEXN):c.1918_1922del (p.Tyr640fs)
|
rs1222794437
|
|
NM_144573.4(NEXN):c.1922T>G (p.Leu641Ter)
|
|
|
NM_144573.4(NEXN):c.1924C>G (p.Pro642Ala)
|
|
|
NM_144573.4(NEXN):c.1946GAG[1] (p.Gly650del)
|
rs397517853
|
|
NM_144573.4(NEXN):c.1948G>A (p.Gly650Arg)
|
|
|
NM_144573.4(NEXN):c.1952_1953del (p.Glu651fs)
|
rs1553242326
|
|
NM_144573.4(NEXN):c.1958T>C (p.Met653Thr)
|
|
|
NM_144573.4(NEXN):c.1976A>G (p.Asn659Ser)
|
|
|
NM_144573.4(NEXN):c.2001dup (p.Ile668fs)
|
|
|
NM_144573.4(NEXN):c.2002A>G (p.Ile668Val)
|
|
|
NM_144573.4(NEXN):c.2019_2022del (p.Ser673fs)
|
|
|
NM_144573.4(NEXN):c.214C>A (p.Gln72Lys)
|
|
|
NM_144573.4(NEXN):c.227A>G (p.Glu76Gly)
|
|
|
NM_144573.4(NEXN):c.247G>A (p.Glu83Lys)
|
|
|
NM_144573.4(NEXN):c.254A>G (p.Asp85Gly)
|
|
|
NM_144573.4(NEXN):c.25_27+2del
|
|
|
NM_144573.4(NEXN):c.27G>A (p.Glu9=)
|
|
|
NM_144573.4(NEXN):c.293T>A (p.Leu98Ter)
|
|
|
NM_144573.4(NEXN):c.29T>G (p.Ile10Ser)
|
|
|
NM_144573.4(NEXN):c.320C>T (p.Ala107Val)
|
|
|
NM_144573.4(NEXN):c.32T>C (p.Leu11Pro)
|
|
|
NM_144573.4(NEXN):c.345G>C (p.Glu115Asp)
|
|
|
NM_144573.4(NEXN):c.362C>T (p.Thr121Met)
|
|
|
NM_144573.4(NEXN):c.374G>A (p.Arg125Gln)
|
rs747265816
|
|
NM_144573.4(NEXN):c.392A>C (p.Gln131Pro)
|
rs397517858
|
|
NM_144573.4(NEXN):c.399G>A (p.Met133Ile)
|
|
|
NM_144573.4(NEXN):c.403G>A (p.Glu135Lys)
|
|
|
NM_144573.4(NEXN):c.408G>T (p.Lys136Asn)
|
|
|
NM_144573.4(NEXN):c.408_415dup (p.Ile139fs)
|
|
|
NM_144573.4(NEXN):c.416T>C (p.Ile139Thr)
|
|
|
NM_144573.4(NEXN):c.431C>G (p.Ala144Gly)
|
|
|
NM_144573.4(NEXN):c.450T>A (p.Ile150=)
|
rs1064797051
|
|
NM_144573.4(NEXN):c.457A>G (p.Ile153Val)
|
|
|
NM_144573.4(NEXN):c.461_464del (p.Asn154fs)
|
rs794729088
|
|
NM_144573.4(NEXN):c.467C>T (p.Thr156Met)
|
|
|
NM_144573.4(NEXN):c.46A>G (p.Lys16Glu)
|
|
|
NM_144573.4(NEXN):c.474T>C (p.Thr158=)
|
|
|
NM_144573.4(NEXN):c.487G>C (p.Glu163Gln)
|
|
|
NM_144573.4(NEXN):c.491A>G (p.Glu164Gly)
|
rs1553238441
|
|
NM_144573.4(NEXN):c.494G>C (p.Gly165Ala)
|
|
|
NM_144573.4(NEXN):c.50C>G (p.Pro17Arg)
|
|
|
NM_144573.4(NEXN):c.561G>T (p.Lys187Asn)
|
|
|
NM_144573.4(NEXN):c.583G>C (p.Glu195Gln)
|
|
|
NM_144573.4(NEXN):c.587G>A (p.Arg196His)
|
|
|
NM_144573.4(NEXN):c.595A>G (p.Lys199Glu)
|
rs1354265495
|
|
NM_144573.4(NEXN):c.609G>C (p.Lys203Asn)
|
|
|
NM_144573.4(NEXN):c.634T>C (p.Tyr212His)
|
|
|
NM_144573.4(NEXN):c.644A>G (p.Gln215Arg)
|
rs2102123963
|
|
NM_144573.4(NEXN):c.685A>C (p.Met229Leu)
|
|
|
NM_144573.4(NEXN):c.696A>T (p.Glu232Asp)
|
rs1173550376
|
|
NM_144573.4(NEXN):c.700del (p.Glu234fs)
|
|
|
NM_144573.4(NEXN):c.70C>G (p.Pro24Ala)
|
|
|
NM_144573.4(NEXN):c.730C>T (p.Pro244Ser)
|
|
|
NM_144573.4(NEXN):c.752T>G (p.Phe251Cys)
|
rs554389574
|
|
NM_144573.4(NEXN):c.769C>A (p.Gln257Lys)
|
|
|
NM_144573.4(NEXN):c.784C>T (p.Arg262Ter)
|
rs1002648603
|
|
NM_144573.4(NEXN):c.794A>C (p.Gln265Pro)
|
rs1649888139
|
|
NM_144573.4(NEXN):c.7_9del (p.Asp3del)
|
rs760463744
|
|
NM_144573.4(NEXN):c.80G>T (p.Gly27Val)
|
|
|
NM_144573.4(NEXN):c.842T>C (p.Phe281Ser)
|
|
|
NM_144573.4(NEXN):c.848A>T (p.Glu283Val)
|
rs374691663
|
|
NM_144573.4(NEXN):c.859C>T (p.Gln287Ter)
|
rs1402442744
|
|
NM_144573.4(NEXN):c.864G>T (p.Met288Ile)
|
rs371666396
|
|
NM_144573.4(NEXN):c.865-1G>A
|
|
|
NM_144573.4(NEXN):c.865-4T>C
|
rs542794485
|
|
NM_144573.4(NEXN):c.8A>T (p.Asp3Val)
|
|
|
NM_144573.4(NEXN):c.980G>T (p.Arg327Met)
|
|
|
NM_144573.4(NEXN):c.98A>G (p.Asp33Gly)
|
|
|
NM_144573.4(NEXN):c.994G>A (p.Glu332Lys)
|
|
|
NM_145046.5(CALR3):c.833G>A (p.Arg278His)
|
rs1247489343
|
|
NM_152594.3(SPRED1):c.1045A>T (p.Arg349Trp)
|
|
|
NM_152594.3(SPRED1):c.1112G>A (p.Cys371Tyr)
|
|
|
NM_152594.3(SPRED1):c.1147T>C (p.Ser383Pro)
|
|
|
NM_152594.3(SPRED1):c.1186A>G (p.Ser396Gly)
|
|
|
NM_152594.3(SPRED1):c.1211G>A (p.Trp404Ter)
|
|
|
NM_152594.3(SPRED1):c.1232C>G (p.Ser411Cys)
|
|
|
NM_152594.3(SPRED1):c.233A>G (p.Lys78Arg)
|
|
|
NM_152594.3(SPRED1):c.28A>G (p.Asn10Asp)
|
|
|
NM_152594.3(SPRED1):c.365A>T (p.Asp122Val)
|
|
|
NM_152594.3(SPRED1):c.376+15C>A
|
|
|
NM_152594.3(SPRED1):c.403G>C (p.Glu135Gln)
|
rs1595748136
|
|
NM_152594.3(SPRED1):c.455T>C (p.Val152Ala)
|
rs1895993159
|
|
NM_152594.3(SPRED1):c.515A>C (p.Asn172Thr)
|
|
|
NM_152594.3(SPRED1):c.523C>A (p.Pro175Thr)
|
|
|
NM_152594.3(SPRED1):c.527C>T (p.Ser176Phe)
|
rs1895995078
|
|
NM_152594.3(SPRED1):c.535G>A (p.Glu179Lys)
|
|
|
NM_152594.3(SPRED1):c.547G>A (p.Ala183Thr)
|
|
|
NM_152594.3(SPRED1):c.593G>C (p.Gly198Ala)
|
|
|
NM_152594.3(SPRED1):c.599C>T (p.Pro200Leu)
|
|
|
NM_152594.3(SPRED1):c.631T>C (p.Tyr211His)
|
|
|
NM_152594.3(SPRED1):c.668T>A (p.Leu223Gln)
|
|
|
NM_152594.3(SPRED1):c.758T>G (p.Ile253Ser)
|
|
|
NM_152594.3(SPRED1):c.770G>T (p.Arg257Leu)
|
|
|
NM_152594.3(SPRED1):c.829G>A (p.Asp277Asn)
|
|
|
NM_152594.3(SPRED1):c.877C>G (p.Leu293Val)
|
|
|
NM_152594.3(SPRED1):c.913C>A (p.Pro305Thr)
|
|
|
NM_152594.3(SPRED1):c.989G>A (p.Gly330Asp)
|
rs1461391044
|
|
NM_170707.4(LMNA):c.1033A>T (p.Met345Leu)
|
|
|
NM_170707.4(LMNA):c.1046G>T (p.Arg349Leu)
|
rs58789393
|
|
NM_170707.4(LMNA):c.1053G>C (p.Arg351Ser)
|
|
|
NM_170707.4(LMNA):c.1058AGC[4] (p.Gln355_Leu356insGln)
|
|
|
NM_170707.4(LMNA):c.1069G>A (p.Asp357Asn)
|
rs267607567
|
|
NM_170707.4(LMNA):c.1080G>C (p.Gln360His)
|
|
|
NM_170707.4(LMNA):c.1090G>A (p.Asp364Asn)
|
rs878855231
|
|
NM_170707.4(LMNA):c.109G>A (p.Glu37Lys)
|
rs1354642495
|
|
NM_170707.4(LMNA):c.1103C>T (p.Ala368Val)
|
|
|
NM_170707.4(LMNA):c.1115A>T (p.Glu372Val)
|
rs2102888292
|
|
NM_170707.4(LMNA):c.1198G>A (p.Gly400Ser)
|
|
|
NM_170707.4(LMNA):c.1234G>T (p.Gly412Trp)
|
rs966050612
|
|
NM_170707.4(LMNA):c.1237G>A (p.Gly413Ser)
|
|
|
NM_170707.4(LMNA):c.1268C>T (p.Ser423Phe)
|
|
|
NM_170707.4(LMNA):c.1279C>G (p.Arg427Gly)
|
|
|
NM_170707.4(LMNA):c.1312G>A (p.Gly438Arg)
|
rs766932100
|
|
NM_170707.4(LMNA):c.1333G>A (p.Val445Met)
|
|
|
NM_170707.4(LMNA):c.1380+3A>G
|
rs1487175603
|
|
NM_170707.4(LMNA):c.1388C>A (p.Ser463Tyr)
|
|
|
NM_170707.4(LMNA):c.1422_1424dup (p.Gly474_Asp475insGlu)
|
rs267607579
|
|
NM_170707.4(LMNA):c.1426G>T (p.Asp476Tyr)
|
rs886039032
|
|
NM_170707.4(LMNA):c.1488+1G>A
|
rs267607640
|
|
NM_170707.4(LMNA):c.1501G>A (p.Gly501Arg)
|
|
|
NM_170707.4(LMNA):c.1531G>A (p.Asp511Asn)
|
rs759408439
|
|
NM_170707.4(LMNA):c.1577_1582dup (p.Arg527_Thr528insMetArg)
|
|
|
NM_170707.4(LMNA):c.1586C>T (p.Ala529Val)
|
rs60580541
|
|
NM_170707.4(LMNA):c.1600A>G (p.Thr534Ala)
|
rs1311820114
|
|
NM_170707.4(LMNA):c.1637C>T (p.Ser546Leu)
|
rs886038995
|
|
NM_170707.4(LMNA):c.1745G>T (p.Arg582Leu)
|
rs57830985
|
|
NM_170707.4(LMNA):c.1766G>A (p.Gly589Glu)
|
|
|
NM_170707.4(LMNA):c.1784C>T (p.Ala595Val)
|
|
|
NM_170707.4(LMNA):c.178C>A (p.Arg60Ser)
|
|
|
NM_170707.4(LMNA):c.1826G>A (p.Gly609Glu)
|
|
|
NM_170707.4(LMNA):c.1837T>C (p.Ser613Pro)
|
rs147627124
|
|
NM_170707.4(LMNA):c.1873_1874delinsCC (p.Ser625Pro)
|
rs1553266553
|
|
NM_170707.4(LMNA):c.212G>T (p.Ser71Ile)
|
|
|
NM_170707.4(LMNA):c.215G>T (p.Arg72Leu)
|
rs727504340
|
|
NM_170707.4(LMNA):c.236C>A (p.Ala79Asp)
|
rs1553261972
|
|
NM_170707.4(LMNA):c.250G>A (p.Glu84Lys)
|
rs794728602
|
|
NM_170707.4(LMNA):c.251A>G (p.Glu84Gly)
|
|
|
NM_170707.4(LMNA):c.254T>G (p.Leu85Arg)
|
rs28933090
|
|
NM_170707.4(LMNA):c.257G>A (p.Gly86Glu)
|
|
|
NM_170707.4(LMNA):c.313G>A (p.Glu105Lys)
|
|
|
NM_170707.4(LMNA):c.31C>T (p.Arg11Cys)
|
|
|
NM_170707.4(LMNA):c.346C>T (p.Leu116=)
|
rs876657491
|
|
NM_170707.4(LMNA):c.350A>C (p.Lys117Thr)
|
|
|
NM_170707.4(LMNA):c.369G>T (p.Lys123Asn)
|
|
|
NM_170707.4(LMNA):c.470C>A (p.Thr157Lys)
|
|
|
NM_170707.4(LMNA):c.470C>G (p.Thr157Arg)
|
rs754097769
|
|
NM_170707.4(LMNA):c.470C>T (p.Thr157Met)
|
rs754097769
|
|
NM_170707.4(LMNA):c.478G>C (p.Gly160Arg)
|
rs765665953
|
|
NM_170707.4(LMNA):c.4G>A (p.Glu2Lys)
|
|
|
NM_170707.4(LMNA):c.521C>A (p.Ala174Glu)
|
rs762153472
|
|
NM_170707.4(LMNA):c.593A>G (p.Gln198Arg)
|
|
|
NM_170707.4(LMNA):c.610C>G (p.Leu204Val)
|
rs1553265177
|
|
NM_170707.4(LMNA):c.631T>A (p.Tyr211Asn)
|
|
|
NM_170707.4(LMNA):c.634A>C (p.Ser212Arg)
|
|
|
NM_170707.4(LMNA):c.710T>C (p.Phe237Ser)
|
rs730880132
|
|
NM_170707.4(LMNA):c.719G>A (p.Arg240Gln)
|
|
|
NM_170707.4(LMNA):c.71C>G (p.Thr24Ser)
|
rs1195524446
|
|
NM_170707.4(LMNA):c.727G>A (p.Asp243Asn)
|
|
|
NM_170707.4(LMNA):c.743T>C (p.Leu248Pro)
|
rs58850446
|
|
NM_170707.4(LMNA):c.748G>A (p.Ala250Thr)
|
rs1572360042
|
|
NM_170707.4(LMNA):c.787C>A (p.Leu263Met)
|
rs750246389
|
|
NM_170707.4(LMNA):c.877C>G (p.Gln293Glu)
|
rs1553265455
|
|
NM_170707.4(LMNA):c.883T>C (p.Ser295Pro)
|
rs267607633
|
|
NM_170707.4(LMNA):c.924G>T (p.Gln308His)
|
|
|
NM_170707.4(LMNA):c.936+2T>C
|
rs797045011
|
|
NM_170707.4(LMNA):c.937-3C>T
|
|
|
NM_170707.4(LMNA):c.937-5T>C
|
rs1001248677
|
|
NM_170707.4(LMNA):c.970G>A (p.Glu324Lys)
|
|
|
NM_170707.4(LMNA):c.974A>G (p.Asp325Gly)
|
|
|
NM_170707.4(LMNA):c.985C>T (p.Arg329Cys)
|
rs775159300
|
|
NM_170707.4(LMNA):c.988G>C (p.Glu330Gln)
|
|
|
NM_172057.2(KCNH2):c.2078_2080dup (p.Arg693_Pro694insArg)
|
rs1060499872
|
|
NM_172201.2(KCNE2):c.140A>G (p.Tyr47Cys)
|
|
|
NM_172201.2(KCNE2):c.177G>A (p.Met59Ile)
|
|
|
NM_172201.2(KCNE2):c.181T>C (p.Ser61Pro)
|
|
|
NM_172201.2(KCNE2):c.201C>G (p.Ile67Met)
|
|
|
NM_172201.2(KCNE2):c.236A>G (p.His79Arg)
|
|
|
NM_172201.2(KCNE2):c.23C>T (p.Thr8Ile)
|
|
|
NM_172201.2(KCNE2):c.243T>A (p.Asn81Lys)
|
|
|
NM_172201.2(KCNE2):c.25C>T (p.Gln9Ter)
|
rs16991652
|
|
NM_172201.2(KCNE2):c.260A>G (p.Tyr87Cys)
|
|
|
NM_172201.2(KCNE2):c.292A>C (p.Ser98Arg)
|
|
|
NM_172201.2(KCNE2):c.298A>C (p.Ile100Leu)
|
|
|
NM_172201.2(KCNE2):c.326C>T (p.Thr109Ile)
|
|
|
NM_172201.2(KCNE2):c.331C>T (p.His111Tyr)
|
|
|
NM_172201.2(KCNE2):c.350C>T (p.Ala117Val)
|
|
|
NM_172201.2(KCNE2):c.362T>C (p.Met121Thr)
|
|
|
NM_172201.2(KCNE2):c.41T>A (p.Val14Asp)
|
|
|
NM_174934.4(SCN4B):c.104T>C (p.Val35Ala)
|
|
|
NM_174934.4(SCN4B):c.183C>G (p.Phe61Leu)
|
|
|
NM_174934.4(SCN4B):c.200G>A (p.Arg67Gln)
|
|
|
NM_174934.4(SCN4B):c.223G>A (p.Ala75Thr)
|
|
|
NM_174934.4(SCN4B):c.231G>C (p.Lys77Asn)
|
|
|
NM_174934.4(SCN4B):c.234+1G>A
|
rs1341627207
|
|
NM_174934.4(SCN4B):c.234+1G>C
|
|
|
NM_174934.4(SCN4B):c.234+1G>T
|
|
|
NM_174934.4(SCN4B):c.23_24delinsAA (p.Gly8Glu)
|
|
|
NM_174934.4(SCN4B):c.2T>G (p.Met1Arg)
|
rs764844756
|
|
NM_174934.4(SCN4B):c.335ACA[1] (p.Asn113del)
|
rs750839173
|
|
NM_174934.4(SCN4B):c.336C>G (p.Asn112Lys)
|
|
|
NM_174934.4(SCN4B):c.368T>A (p.Phe123Tyr)
|
|
|
NM_174934.4(SCN4B):c.373G>C (p.Asp125His)
|
|
|
NM_174934.4(SCN4B):c.395A>G (p.His132Arg)
|
|
|
NM_174934.4(SCN4B):c.439A>T (p.Ile147Phe)
|
|
|
NM_174934.4(SCN4B):c.451G>A (p.Val151Ile)
|
|
|
NM_174934.4(SCN4B):c.455T>C (p.Val152Ala)
|
|
|
NM_174934.4(SCN4B):c.458A>G (p.Asp153Gly)
|
|
|
NM_174934.4(SCN4B):c.491T>A (p.Leu164His)
|
|
|
NM_174934.4(SCN4B):c.491_492delinsAG (p.Leu164Gln)
|
|
|
NM_174934.4(SCN4B):c.508G>A (p.Val170Met)
|
|
|
NM_174934.4(SCN4B):c.538A>C (p.Ile180Leu)
|
|
|
NM_174934.4(SCN4B):c.556C>G (p.Leu186Val)
|
|
|
NM_174934.4(SCN4B):c.55_56delinsGA (p.Leu19Asp)
|
|
|
NM_174934.4(SCN4B):c.583C>T (p.Arg195Trp)
|
rs945490950
|
|
NM_174934.4(SCN4B):c.589A>T (p.Lys197Ter)
|
|
|
NM_174934.4(SCN4B):c.610A>G (p.Ser204Gly)
|
|
|
NM_174934.4(SCN4B):c.636_637dup (p.Asn213fs)
|
|
|
NM_174934.4(SCN4B):c.641G>T (p.Gly214Val)
|
|
|
NM_174934.4(SCN4B):c.673C>G (p.Pro225Ala)
|
|
|
NM_174934.4(SCN4B):c.686G>C (p.Ter229Ser)
|
|
|
NM_174934.4(SCN4B):c.7G>A (p.Gly3Arg)
|
|
|
NM_174934.4(SCN4B):c.90G>T (p.Ser30=)
|
|
|
NM_174936.4(PCSK9):c.107G>A (p.Gly36Asp)
|
|
|
NM_174936.4(PCSK9):c.1090C>T (p.Pro364Ser)
|
|
|
NM_174936.4(PCSK9):c.1099G>T (p.Asp367Tyr)
|
rs141867978
|
|
NM_174936.4(PCSK9):c.111C>A (p.Asp37Glu)
|
|
|
NM_174936.4(PCSK9):c.122T>A (p.Leu41Gln)
|
|
|
NM_174936.4(PCSK9):c.1241G>A (p.Arg414Lys)
|
|
|
NM_174936.4(PCSK9):c.1325C>T (p.Ala442Val)
|
|
|
NM_174936.4(PCSK9):c.1381T>C (p.Trp461Arg)
|
|
|
NM_174936.4(PCSK9):c.1390C>G (p.His464Asp)
|
|
|
NM_174936.4(PCSK9):c.1392C>G (p.His464Gln)
|
|
|
NM_174936.4(PCSK9):c.1397G>A (p.Gly466Glu)
|
|
|
NM_174936.4(PCSK9):c.1436C>T (p.Pro479Leu)
|
rs2100326132
|
|
NM_174936.4(PCSK9):c.1447C>G (p.Leu483Val)
|
rs1570307690
|
|
NM_174936.4(PCSK9):c.1469C>T (p.Ser490Phe)
|
|
|
NM_174936.4(PCSK9):c.1473G>T (p.Arg491Ser)
|
|
|
NM_174936.4(PCSK9):c.147G>C (p.Glu49Asp)
|
|
|
NM_174936.4(PCSK9):c.1496G>C (p.Arg499Pro)
|
rs143394031
|
|
NM_174936.4(PCSK9):c.1496G>T (p.Arg499Leu)
|
rs143394031
|
|
NM_174936.4(PCSK9):c.1498A>G (p.Met500Val)
|
|
|
NM_174936.4(PCSK9):c.151G>T (p.Gly51Cys)
|
|
|
NM_174936.4(PCSK9):c.1550G>T (p.Gly517Val)
|
rs1182044412
|
|
NM_174936.4(PCSK9):c.1555G>A (p.Gly519Ser)
|
rs2100330525
|
|
NM_174936.4(PCSK9):c.155T>C (p.Leu52Pro)
|
|
|
NM_174936.4(PCSK9):c.1570G>A (p.Ala524Thr)
|
|
|
NM_174936.4(PCSK9):c.158C>G (p.Ala53Gly)
|
rs11583680
|
|
NM_174936.4(PCSK9):c.1646G>T (p.Arg549Leu)
|
|
|
NM_174936.4(PCSK9):c.1695C>G (p.His565Gln)
|
|
|
NM_174936.4(PCSK9):c.1838A>G (p.His613Arg)
|
|
|
NM_174936.4(PCSK9):c.185C>A (p.Ala62Asp)
|
rs886039839
|
|
NM_174936.4(PCSK9):c.1877G>A (p.Cys626Tyr)
|
|
|
NM_174936.4(PCSK9):c.1877G>C (p.Cys626Ser)
|
|
|
NM_174936.4(PCSK9):c.1897A>G (p.Thr633Ala)
|
rs1002152564
|
|
NM_174936.4(PCSK9):c.1918G>C (p.Gly640Arg)
|
|
|
NM_174936.4(PCSK9):c.1952A>G (p.Asp651Gly)
|
rs1644777850
|
|
NM_174936.4(PCSK9):c.1956C>A (p.Asn652Lys)
|
|
|
NM_174936.4(PCSK9):c.1958C>T (p.Thr653Met)
|
|
|
NM_174936.4(PCSK9):c.1974C>A (p.Ser658Arg)
|
|
|
NM_174936.4(PCSK9):c.1976G>C (p.Arg659Pro)
|
|
|
NM_174936.4(PCSK9):c.197G>A (p.Arg66His)
|
|
|
NM_174936.4(PCSK9):c.2027C>G (p.Ala676Gly)
|
|
|
NM_174936.4(PCSK9):c.206A>T (p.Lys69Met)
|
|
|
NM_174936.4(PCSK9):c.212C>T (p.Pro71Leu)
|
rs569379713
|
|
NM_174936.4(PCSK9):c.230C>T (p.Thr77Ile)
|
|
|
NM_174936.4(PCSK9):c.235G>A (p.Val79Met)
|
|
|
NM_174936.4(PCSK9):c.257C>G (p.Thr86Ser)
|
|
|
NM_174936.4(PCSK9):c.266C>G (p.Ser89Trp)
|
rs771978846
|
|
NM_174936.4(PCSK9):c.299C>G (p.Ala100Gly)
|
rs1484569818
|
|
NM_174936.4(PCSK9):c.385G>A (p.Asp129Asn)
|
|
|
NM_174936.4(PCSK9):c.392T>C (p.Leu131Pro)
|
|
|
NM_174936.4(PCSK9):c.436G>A (p.Asp146Asn)
|
|
|
NM_174936.4(PCSK9):c.452C>T (p.Ala151Val)
|
|
|
NM_174936.4(PCSK9):c.494G>A (p.Arg165Gln)
|
rs372165281
|
|
NM_174936.4(PCSK9):c.524-5G>A
|
|
|
NM_174936.4(PCSK9):c.556G>C (p.Asp186His)
|
|
|
NM_174936.4(PCSK9):c.557A>G (p.Asp186Gly)
|
|
|
NM_174936.4(PCSK9):c.670G>C (p.Asp224His)
|
|
|
NM_174936.4(PCSK9):c.683C>G (p.Thr228Ser)
|
|
|
NM_174936.4(PCSK9):c.80G>A (p.Gly27Asp)
|
|
|
NM_174936.4(PCSK9):c.854T>C (p.Val285Ala)
|
|
|
NM_174936.4(PCSK9):c.871G>A (p.Gly291Ser)
|
|
|
NM_174936.4(PCSK9):c.881G>A (p.Ser294Asn)
|
|
|
NM_174936.4(PCSK9):c.883C>T (p.Arg295Cys)
|
|
|
NM_174936.4(PCSK9):c.898G>A (p.Ala300Thr)
|
|
|
NM_174936.4(PCSK9):c.907C>T (p.Arg303Cys)
|
|
|
NM_174936.4(PCSK9):c.989C>T (p.Ala330Val)
|
rs868240958
|
|
NM_178172.6(GPIHBP1):c.106G>C (p.Asp36His)
|
|
|
NM_178172.6(GPIHBP1):c.13G>T (p.Gly5Trp)
|
|
|
NM_178172.6(GPIHBP1):c.151A>T (p.Thr51Ser)
|
|
|
NM_178172.6(GPIHBP1):c.163C>G (p.Pro55Ala)
|
|
|
NM_178172.6(GPIHBP1):c.188T>C (p.Leu63Pro)
|
|
|
NM_178172.6(GPIHBP1):c.211C>G (p.Leu71Val)
|
|
|
NM_178172.6(GPIHBP1):c.254A>G (p.His85Arg)
|
|
|
NM_178172.6(GPIHBP1):c.334G>A (p.Asp112Asn)
|
|
|
NM_178172.6(GPIHBP1):c.429C>A (p.Ser143Arg)
|
|
|
NM_178172.6(GPIHBP1):c.43G>A (p.Gly15Arg)
|
|
|
NM_178172.6(GPIHBP1):c.46C>T (p.Arg16Trp)
|
|
|
NM_178172.6(GPIHBP1):c.476G>A (p.Gly159Asp)
|
|
|
NM_178172.6(GPIHBP1):c.497C>A (p.Ala166Glu)
|
|
|
NM_178172.6(GPIHBP1):c.523G>A (p.Gly175Ser)
|
|
|
NM_178172.6(GPIHBP1):c.551C>T (p.Pro184Leu)
|
|
|
NM_178172.6(GPIHBP1):c.91G>A (p.Glu31Lys)
|
|
|
NM_178172.6(GPIHBP1):c.92A>T (p.Glu31Val)
|
|
|
NM_181486.4(TBX5):c.1019A>C (p.Lys340Thr)
|
|
|
NM_181486.4(TBX5):c.101C>T (p.Ala34Val)
|
rs761952835
|
|
NM_181486.4(TBX5):c.1021C>G (p.Pro341Ala)
|
|
|
NM_181486.4(TBX5):c.1029G>A (p.Met343Ile)
|
|
|
NM_181486.4(TBX5):c.1033A>G (p.Thr345Ala)
|
|
|
NM_181486.4(TBX5):c.1045G>A (p.Glu349Lys)
|
|
|
NM_181486.4(TBX5):c.104C>A (p.Pro35His)
|
|
|
NM_181486.4(TBX5):c.1063C>T (p.Arg355Cys)
|
|
|
NM_181486.4(TBX5):c.1073A>G (p.Tyr358Cys)
|
|
|
NM_181486.4(TBX5):c.1076C>T (p.Pro359Leu)
|
|
|
NM_181486.4(TBX5):c.1129G>A (p.Ala377Thr)
|
|
|
NM_181486.4(TBX5):c.1130C>T (p.Ala377Val)
|
|
|
NM_181486.4(TBX5):c.1135A>C (p.Met379Leu)
|
|
|
NM_181486.4(TBX5):c.1153C>T (p.Pro385Ser)
|
|
|
NM_181486.4(TBX5):c.1168G>A (p.Val390Met)
|
|
|
NM_181486.4(TBX5):c.119C>G (p.Ser40Trp)
|
|
|
NM_181486.4(TBX5):c.1205C>T (p.Pro402Leu)
|
|
|
NM_181486.4(TBX5):c.1228T>C (p.Cys410Arg)
|
|
|
NM_181486.4(TBX5):c.1282G>A (p.Ala428Thr)
|
|
|
NM_181486.4(TBX5):c.1295C>T (p.Ser432Leu)
|
|
|
NM_181486.4(TBX5):c.1319C>T (p.Ala440Val)
|
|
|
NM_181486.4(TBX5):c.1321G>A (p.Gly441Ser)
|
|
|
NM_181486.4(TBX5):c.1332C>A (p.Asn444Lys)
|
|
|
NM_181486.4(TBX5):c.133G>A (p.Ala45Thr)
|
|
|
NM_181486.4(TBX5):c.1361T>C (p.Met454Thr)
|
|
|
NM_181486.4(TBX5):c.1362G>A (p.Met454Ile)
|
rs971831243
|
|
NM_181486.4(TBX5):c.1376C>A (p.Thr459Asn)
|
|
|
NM_181486.4(TBX5):c.1388A>C (p.His463Pro)
|
|
|
NM_181486.4(TBX5):c.1407G>C (p.Gln469His)
|
|
|
NM_181486.4(TBX5):c.140C>G (p.Thr47Ser)
|
|
|
NM_181486.4(TBX5):c.1442C>T (p.Thr481Ile)
|
|
|
NM_181486.4(TBX5):c.1469C>T (p.Ser490Phe)
|
|
|
NM_181486.4(TBX5):c.1484G>A (p.Arg495Lys)
|
|
|
NM_181486.4(TBX5):c.1485del (p.Thr496fs)
|
|
|
NM_181486.4(TBX5):c.1519G>A (p.Gly507Arg)
|
|
|
NM_181486.4(TBX5):c.1520G>A (p.Gly507Glu)
|
|
|
NM_181486.4(TBX5):c.1523T>C (p.Val508Ala)
|
|
|
NM_181486.4(TBX5):c.1538A>G (p.Glu513Gly)
|
|
|
NM_181486.4(TBX5):c.1546G>A (p.Asp516Asn)
|
|
|
NM_181486.4(TBX5):c.157G>A (p.Gly53Arg)
|
|
|
NM_181486.4(TBX5):c.167T>A (p.Val56Glu)
|
|
|
NM_181486.4(TBX5):c.182G>A (p.Arg61Lys)
|
|
|
NM_181486.4(TBX5):c.207A>C (p.Glu69Asp)
|
|
|
NM_181486.4(TBX5):c.208G>A (p.Val70Met)
|
|
|
NM_181486.4(TBX5):c.260A>G (p.Tyr87Cys)
|
rs886039131
|
|
NM_181486.4(TBX5):c.286C>T (p.Pro96Ser)
|
|
|
NM_181486.4(TBX5):c.289A>G (p.Lys97Glu)
|
|
|
NM_181486.4(TBX5):c.322C>G (p.Pro108Ala)
|
|
|
NM_181486.4(TBX5):c.328G>A (p.Asp110Asn)
|
|
|
NM_181486.4(TBX5):c.343A>G (p.Lys115Glu)
|
|
|
NM_181486.4(TBX5):c.349G>T (p.Ala117Ser)
|
|
|
NM_181486.4(TBX5):c.363-4C>A
|
|
|
NM_181486.4(TBX5):c.368T>C (p.Val123Ala)
|
rs1555226329
|
|
NM_181486.4(TBX5):c.37A>T (p.Thr13Ser)
|
|
|
NM_181486.4(TBX5):c.383A>G (p.Glu128Gly)
|
|
|
NM_181486.4(TBX5):c.38C>A (p.Thr13Lys)
|
rs763125466
|
|
NM_181486.4(TBX5):c.451C>G (p.Gln151Glu)
|
|
|
NM_181486.4(TBX5):c.455T>C (p.Leu152Pro)
|
|
|
NM_181486.4(TBX5):c.472C>T (p.Leu158Phe)
|
|
|
NM_181486.4(TBX5):c.4G>A (p.Ala2Thr)
|
|
|
NM_181486.4(TBX5):c.503T>C (p.Phe168Ser)
|
|
|
NM_181486.4(TBX5):c.510+3G>A
|
|
|
NM_181486.4(TBX5):c.510+5G>A
|
rs1555226301
|
|
NM_181486.4(TBX5):c.604T>C (p.Cys202Arg)
|
|
|
NM_181486.4(TBX5):c.610C>A (p.His204Asn)
|
|
|
NM_181486.4(TBX5):c.613G>A (p.Val205Ile)
|
|
|
NM_181486.4(TBX5):c.622G>A (p.Glu208Lys)
|
|
|
NM_181486.4(TBX5):c.623A>T (p.Glu208Val)
|
rs2136410771
|
|
NM_181486.4(TBX5):c.629C>A (p.Ala210Glu)
|
|
|
NM_181486.4(TBX5):c.635T>C (p.Ile212Thr)
|
|
|
NM_181486.4(TBX5):c.635T>G (p.Ile212Arg)
|
|
|
NM_181486.4(TBX5):c.691C>A (p.Pro231Thr)
|
|
|
NM_181486.4(TBX5):c.691C>T (p.Pro231Ser)
|
rs2136397905
|
|
NM_181486.4(TBX5):c.727G>A (p.Glu243Lys)
|
|
|
NM_181486.4(TBX5):c.73G>T (p.Asp25Tyr)
|
|
|
NM_181486.4(TBX5):c.798A>T (p.Lys266Asn)
|
|
|
NM_181486.4(TBX5):c.800T>G (p.Val267Gly)
|
|
|
NM_181486.4(TBX5):c.811C>A (p.His271Asn)
|
|
|
NM_181486.4(TBX5):c.817C>T (p.Pro273Ser)
|
|
|
NM_181486.4(TBX5):c.829G>A (p.Glu277Lys)
|
|
|
NM_181486.4(TBX5):c.859T>A (p.Leu287Met)
|
|
|
NM_181486.4(TBX5):c.868C>G (p.Gln290Glu)
|
|
|
NM_181486.4(TBX5):c.874C>A (p.Gln292Lys)
|
|
|
NM_181486.4(TBX5):c.885T>A (p.Asn295Lys)
|
|
|
NM_181486.4(TBX5):c.88A>G (p.Ser30Gly)
|
|
|
NM_181486.4(TBX5):c.901T>A (p.Ser301Thr)
|
|
|
NM_181486.4(TBX5):c.917C>T (p.Pro306Leu)
|
|
|
NM_181486.4(TBX5):c.92C>T (p.Ala31Val)
|
|
|
NM_181486.4(TBX5):c.940C>T (p.Pro314Ser)
|
|
|
NM_181486.4(TBX5):c.946G>C (p.Glu316Gln)
|
|
|
NM_181486.4(TBX5):c.958A>T (p.Ile320Phe)
|
|
|
NM_198056.2(SCN5A):c.86_87invCA (p.Ala29Val)
|
|
|
NM_201590.3(CACNB2):c.13C>T (p.Arg5Cys)
|
|
|
NM_201590.3(CACNB2):c.25C>A (p.Pro9Thr)
|
|
|
NM_201590.3(CACNB2):c.25C>G (p.Pro9Ala)
|
|
|
NM_201590.3(CACNB2):c.43A>G (p.Ile15Val)
|
|
|
NM_201590.3(CACNB2):c.46C>A (p.Pro16Thr)
|
|
|
NM_201590.3(CACNB2):c.51G>C (p.Gly17=)
|
|
|
NM_201590.3(CACNB2):c.8A>G (p.Asp3Gly)
|
|
|
NM_201596.3(CACNB2):c.1009A>G (p.Ser337Gly)
|
rs886038827
|
|
NM_201596.3(CACNB2):c.1019C>T (p.Ala340Val)
|
|
|
NM_201596.3(CACNB2):c.1039A>G (p.Thr347Ala)
|
|
|
NM_201596.3(CACNB2):c.1074C>G (p.Ile358Met)
|
|
|
NM_201596.3(CACNB2):c.1075G>A (p.Glu359Lys)
|
|
|
NM_201596.3(CACNB2):c.1081A>G (p.Ile361Val)
|
|
|
NM_201596.3(CACNB2):c.1085T>C (p.Phe362Ser)
|
|
|
NM_201596.3(CACNB2):c.1093G>A (p.Ala365Thr)
|
|
|
NM_201596.3(CACNB2):c.1103T>C (p.Leu368Ser)
|
|
|
NM_201596.3(CACNB2):c.1105C>A (p.Gln369Lys)
|
|
|
NM_201596.3(CACNB2):c.1114G>A (p.Val372Ile)
|
|
|
NM_201596.3(CACNB2):c.1117C>T (p.Leu373Phe)
|
|
|
NM_201596.3(CACNB2):c.1141C>T (p.Pro381Ser)
|
|
|
NM_201596.3(CACNB2):c.1144G>A (p.Ala382Thr)
|
|
|
NM_201596.3(CACNB2):c.1148A>G (p.Gln383Arg)
|
|
|
NM_201596.3(CACNB2):c.1154G>A (p.Ser385Asn)
|
rs770400596
|
|
NM_201596.3(CACNB2):c.1154G>C (p.Ser385Thr)
|
|
|
NM_201596.3(CACNB2):c.1178T>G (p.Ile393Arg)
|
rs139749312
|
|
NM_201596.3(CACNB2):c.1293G>C (p.Gln431His)
|
rs148414498
|
|
NM_201596.3(CACNB2):c.1303-5T>C
|
|
|
NM_201596.3(CACNB2):c.1311C>A (p.Phe437Leu)
|
rs560020203
|
|
NM_201596.3(CACNB2):c.1312G>A (p.Asp438Asn)
|
|
|
NM_201596.3(CACNB2):c.1349G>C (p.Cys450Ser)
|
|
|
NM_201596.3(CACNB2):c.1391C>T (p.Thr464Ile)
|
|
|
NM_201596.3(CACNB2):c.1399C>G (p.Pro467Ala)
|
|
|
NM_201596.3(CACNB2):c.1405A>G (p.Ser469Gly)
|
|
|
NM_201596.3(CACNB2):c.1421C>A (p.Pro474His)
|
|
|
NM_201596.3(CACNB2):c.1432C>G (p.Arg478Gly)
|
|
|
NM_201596.3(CACNB2):c.1441G>A (p.Ala481Thr)
|
|
|
NM_201596.3(CACNB2):c.1441G>C (p.Ala481Pro)
|
|
|
NM_201596.3(CACNB2):c.1445C>T (p.Thr482Ile)
|
|
|
NM_201596.3(CACNB2):c.1463G>A (p.Ser488Asn)
|
|
|
NM_201596.3(CACNB2):c.1471C>G (p.Leu491Val)
|
|
|
NM_201596.3(CACNB2):c.1472T>A (p.Leu491Gln)
|
|
|
NM_201596.3(CACNB2):c.1489G>T (p.Gly497Cys)
|
|
|
NM_201596.3(CACNB2):c.1490G>T (p.Gly497Val)
|
|
|
NM_201596.3(CACNB2):c.1517_1518delinsAT (p.Arg506His)
|
rs2133333288
|
|
NM_201596.3(CACNB2):c.1519T>C (p.Ser507Pro)
|
|
|
NM_201596.3(CACNB2):c.1525C>A (p.Pro509Thr)
|
|
|
NM_201596.3(CACNB2):c.1526C>T (p.Pro509Leu)
|
|
|
NM_201596.3(CACNB2):c.1531C>T (p.Arg511Cys)
|
rs764111314
|
|
NM_201596.3(CACNB2):c.1534del (p.Ser512fs)
|
rs767341738
|
|
NM_201596.3(CACNB2):c.1559C>T (p.Pro520Leu)
|
|
|
NM_201596.3(CACNB2):c.1573G>A (p.Val525Ile)
|
|
|
NM_201596.3(CACNB2):c.1573G>C (p.Val525Leu)
|
|
|
NM_201596.3(CACNB2):c.1604C>T (p.Ser535Leu)
|
rs121917812
|
|
NM_201596.3(CACNB2):c.1619A>G (p.Asn540Ser)
|
|
|
NM_201596.3(CACNB2):c.1624C>G (p.Arg542Gly)
|
|
|
NM_201596.3(CACNB2):c.1630G>A (p.Gly544Arg)
|
|
|
NM_201596.3(CACNB2):c.1645C>T (p.Leu549Phe)
|
|
|
NM_201596.3(CACNB2):c.1659_1662dup (p.Phe555fs)
|
|
|
NM_201596.3(CACNB2):c.1661C>T (p.Thr554Ile)
|
|
|
NM_201596.3(CACNB2):c.1688G>C (p.Arg563Pro)
|
rs766377211
|
|
NM_201596.3(CACNB2):c.1690G>C (p.Asp564His)
|
|
|
NM_201596.3(CACNB2):c.1702G>C (p.Val568Leu)
|
rs142639223
|
|
NM_201596.3(CACNB2):c.1702G>T (p.Val568Leu)
|
rs142639223
|
|
NM_201596.3(CACNB2):c.1718A>G (p.Asp573Gly)
|
|
|
NM_201596.3(CACNB2):c.1745A>G (p.Tyr582Cys)
|
|
|
NM_201596.3(CACNB2):c.1748C>T (p.Ala583Val)
|
|
|
NM_201596.3(CACNB2):c.1757G>A (p.Arg586His)
|
|
|
NM_201596.3(CACNB2):c.1817delinsTGTGT (p.Arg606fs)
|
|
|
NM_201596.3(CACNB2):c.1823G>T (p.Arg608Leu)
|
|
|
NM_201596.3(CACNB2):c.1833C>G (p.Asp611Glu)
|
|
|
NM_201596.3(CACNB2):c.1833_1838dup (p.Asp613_Arg614insValAsp)
|
|
|
NM_201596.3(CACNB2):c.1838A>C (p.Asp613Ala)
|
|
|
NM_201596.3(CACNB2):c.1840C>G (p.Arg614Gly)
|
|
|
NM_201596.3(CACNB2):c.1841G>C (p.Arg614Pro)
|
|
|
NM_201596.3(CACNB2):c.1844A>C (p.Glu615Ala)
|
rs1564678668
|
|
NM_201596.3(CACNB2):c.1855A>G (p.Asn619Asp)
|
|
|
NM_201596.3(CACNB2):c.1874G>C (p.Arg625Pro)
|
|
|
NM_201596.3(CACNB2):c.1879C>A (p.Arg627Ser)
|
|
|
NM_201596.3(CACNB2):c.1880G>A (p.Arg627His)
|
|
|
NM_201596.3(CACNB2):c.1906G>A (p.Glu636Lys)
|
|
|
NM_201596.3(CACNB2):c.1910dup (p.Asp638fs)
|
rs750015594
|
|
NM_201596.3(CACNB2):c.1920_1924dup (p.Ile642delinsLysTer)
|
|
|
NM_201596.3(CACNB2):c.1921G>A (p.Val641Met)
|
rs786205786
|
|
NM_201596.3(CACNB2):c.1925T>C (p.Ile642Thr)
|
rs1554843232
|
|
NM_201596.3(CACNB2):c.1925T>G (p.Ile642Arg)
|
|
|
NM_201596.3(CACNB2):c.1942G>A (p.Glu648Lys)
|
|
|
NM_201596.3(CACNB2):c.1960_1970dup (p.Tyr657Ter)
|
|
|
NM_201596.3(CACNB2):c.1970A>G (p.Tyr657Cys)
|
|
|
NM_201596.3(CACNB2):c.214-3C>T
|
|
|
NM_201596.3(CACNB2):c.214-60999G>A
|
|
|
NM_201596.3(CACNB2):c.239G>A (p.Arg80His)
|
|
|
NM_201596.3(CACNB2):c.253G>A (p.Asp85Asn)
|
|
|
NM_201596.3(CACNB2):c.253G>C (p.Asp85His)
|
|
|
NM_201596.3(CACNB2):c.281C>G (p.Ala94Gly)
|
|
|
NM_201596.3(CACNB2):c.289A>G (p.Arg97Gly)
|
|
|
NM_201596.3(CACNB2):c.290G>C (p.Arg97Thr)
|
rs1564509094
|
|
NM_201596.3(CACNB2):c.299A>T (p.Glu100Val)
|
|
|
NM_201596.3(CACNB2):c.340C>T (p.Pro114Ser)
|
rs768218683
|
|
NM_201596.3(CACNB2):c.343G>A (p.Val115Ile)
|
rs747480172
|
|
NM_201596.3(CACNB2):c.383C>T (p.Ala128Val)
|
rs376636577
|
|
NM_201596.3(CACNB2):c.386A>T (p.His129Leu)
|
|
|
NM_201596.3(CACNB2):c.394G>T (p.Asp132Tyr)
|
rs1317419789
|
|
NM_201596.3(CACNB2):c.406C>A (p.Pro136Thr)
|
|
|
NM_201596.3(CACNB2):c.415G>T (p.Ala139Ser)
|
rs886039055
|
|
NM_201596.3(CACNB2):c.418A>G (p.Ile140Val)
|
|
|
NM_201596.3(CACNB2):c.436G>T (p.Asp146Tyr)
|
|
|
NM_201596.3(CACNB2):c.447T>A (p.His149Gln)
|
|
|
NM_201596.3(CACNB2):c.479T>C (p.Ile160Thr)
|
|
|
NM_201596.3(CACNB2):c.517A>G (p.Ile173Val)
|
|
|
NM_201596.3(CACNB2):c.557A>C (p.His186Pro)
|
|
|
NM_201596.3(CACNB2):c.566G>T (p.Arg189Ile)
|
|
|
NM_201596.3(CACNB2):c.604G>A (p.Gly202Arg)
|
|
|
NM_201596.3(CACNB2):c.650A>G (p.Lys217Arg)
|
|
|
NM_201596.3(CACNB2):c.704A>C (p.Glu235Ala)
|
|
|
NM_201596.3(CACNB2):c.770A>C (p.His257Pro)
|
|
|
NM_201596.3(CACNB2):c.818C>T (p.Pro273Leu)
|
rs375425461
|
|
NM_201596.3(CACNB2):c.827A>C (p.Asp276Ala)
|
rs889646922
|
|
NM_201596.3(CACNB2):c.859G>C (p.Val287Leu)
|
rs1217728234
|
|
NM_201596.3(CACNB2):c.883G>C (p.Glu295Gln)
|
|
|
NM_201596.3(CACNB2):c.899T>C (p.Met300Thr)
|
|
|
NM_201596.3(CACNB2):c.943C>T (p.Arg315Trp)
|
|
|
NM_201596.3(CACNB2):c.958A>G (p.Arg320Gly)
|
|
|
NM_201596.3(CACNB2):c.970G>T (p.Asp324Tyr)
|
|
|