NM_000094.4(COL7A1):c.1907G>T (p.Gly636Val)
|
rs116005007
|
0.00425
|
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val)
|
rs142787001
|
0.00284
|
NM_000271.5(NPC1):c.3343G>T (p.Val1115Phe)
|
rs34226296
|
0.00268
|
NM_002542.6(OGG1):c.137G>A (p.Arg46Gln)
|
rs104893751
|
0.00233
|
NM_000122.2(ERCC3):c.2111C>T (p.Ser704Leu)
|
rs4150521
|
0.00227
|
NM_002485.5(NBN):c.643C>T (p.Arg215Trp)
|
rs34767364
|
0.00206
|
NM_000389.5(CDKN1A):c.350G>A (p.Cys117Tyr)
|
rs148679597
|
0.00196
|
NM_014967.5(FAN1):c.149T>G (p.Met50Arg)
|
rs148404807
|
0.00191
|
NM_006074.5(TRIM22):c.247G>A (p.Glu83Lys)
|
rs200668710
|
0.00186
|
NM_005957.5(MTHFR):c.1555C>T (p.Arg519Cys)
|
rs45496998
|
0.00176
|
NM_001126049.2(KLLN):c.339_340del (p.Ala115fs)
|
rs749052307
|
0.00173
|
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His)
|
rs143987857
|
0.00171
|
NM_000096.4(CP):c.2684G>C (p.Gly895Ala)
|
rs139633388
|
0.00162
|
NM_005609.4(PYGM):c.660G>A (p.Gln220=)
|
rs142234258
|
0.00161
|
NM_000301.5(PLG):c.1469G>A (p.Arg490Gln)
|
rs140537724
|
0.00140
|
NM_000540.3(RYR1):c.2797G>A (p.Ala933Thr)
|
rs148623597
|
0.00137
|
NM_001388492.1(HTT):c.3244G>C (p.Asp1082His)
|
rs1065746
|
0.00133
|
NM_133372.3(FNIP1):c.1553G>A (p.Arg518Gln)
|
rs115209326
|
0.00131
|
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys)
|
rs1801155
|
0.00116
|
NM_000532.5(PCCB):c.338G>A (p.Arg113Gln)
|
rs138246328
|
0.00116
|
NM_207346.3(TSEN54):c.83C>T (p.Ser28Leu)
|
rs201089582
|
0.00116
|
NM_000123.4(ERCC5):c.2818G>A (p.Val940Met)
|
rs146344855
|
0.00113
|
NM_001291303.3(FAT4):c.3402A>T (p.Glu1134Asp)
|
rs144768563
|
0.00113
|
NM_004369.4(COL6A3):c.8189C>A (p.Ala2730Asp)
|
rs138466455
|
0.00110
|
NM_181882.3(PRX):c.823C>A (p.Leu275Ile)
|
rs200033507
|
0.00108
|
NM_025137.4(SPG11):c.5121G>T (p.Glu1707Asp)
|
rs145643238
|
0.00103
|
NM_002608.4(PDGFB):c.670C>T (p.Arg224Trp)
|
rs146468845
|
0.00093
|
NM_005559.4(LAMA1):c.2808+5G>A
|
rs201030108
|
0.00089
|
NM_015959.4(TMX2):c.180C>G (p.Asp60Glu)
|
rs143908831
|
0.00087
|
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu)
|
rs111033212
|
0.00077
|
NM_000158.4(GBE1):c.1492G>A (p.Glu498Lys)
|
rs201758548
|
0.00071
|
NM_017872.5(THG1L):c.287A>T (p.Asp96Val)
|
rs139588885
|
0.00070
|
NM_052872.4(IL17F):c.254+1G>T
|
rs117796773
|
0.00070
|
NM_178138.6(LHX3):c.929G>C (p.Arg310Pro)
|
rs201591640
|
0.00070
|
NM_000079.4(CHRNA1):c.224G>A (p.Arg75His)
|
rs147488907
|
0.00069
|
NM_018941.4(CLN8):c.779C>T (p.Pro260Leu)
|
rs146579299
|
0.00068
|
NM_201384.3(PLEC):c.5024G>A (p.Arg1675Gln)
|
rs370569372
|
0.00064
|
NM_000435.3(NOTCH3):c.1931T>A (p.Val644Asp)
|
rs148046938
|
0.00063
|
NM_001848.3(COL6A1):c.2809A>G (p.Lys937Glu)
|
rs117583120
|
0.00061
|
NM_001206927.2(DNAH8):c.14059C>T (p.Arg4687Ter)
|
rs146551804
|
0.00058
|
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu)
|
rs139260335
|
0.00057
|
NM_020320.5(RARS2):c.442A>G (p.Thr148Ala)
|
rs143389605
|
0.00055
|
NM_001849.4(COL6A2):c.791G>A (p.Arg264His)
|
rs148029276
|
0.00052
|
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp)
|
rs143671872
|
0.00047
|
NM_033629.6(TREX1):c.739G>C (p.Ala247Pro)
|
rs112741962
|
0.00047
|
NM_004562.3(PRKN):c.766C>T (p.Arg256Cys)
|
rs150562946
|
0.00046
|
NM_004727.3(SLC24A1):c.2183C>T (p.Ala728Val)
|
rs201943537
|
0.00045
|
NM_207346.3(TSEN54):c.1114G>A (p.Val372Met)
|
rs200434678
|
0.00045
|
NM_000096.4(CP):c.788A>G (p.Asn263Ser)
|
rs150303869
|
0.00041
|
NM_001364905.1(LRBA):c.1771T>C (p.Tyr591His)
|
rs138890467
|
0.00038
|
NM_001922.5(DCT):c.125C>T (p.Pro42Leu)
|
rs140411565
|
0.00037
|
NM_001164508.2(NEB):c.22370G>C (p.Ser7457Thr)
|
rs142454476
|
0.00035
|
NM_000271.5(NPC1):c.180G>T (p.Gln60His)
|
rs145666943
|
0.00034
|
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr)
|
rs200050883
|
0.00034
|
NM_014727.3(KMT2B):c.4561C>T (p.Arg1521Trp)
|
rs374069613
|
0.00034
|
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)
|
rs142763740
|
0.00032
|
NM_001136472.2(LITAF):c.44C>T (p.Ser15Leu)
|
rs138041990
|
0.00031
|
NM_001267550.2(TTN):c.53159T>C (p.Ile17720Thr)
|
rs201358641
|
0.00031
|
NM_183357.3(ADCY5):c.3253G>A (p.Val1085Ile)
|
rs149775261
|
0.00031
|
NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn)
|
rs151001016
|
0.00030
|
NM_001042432.2(CLN3):c.242C>T (p.Pro81Leu)
|
rs137906617
|
0.00029
|
NM_002691.4(POLD1):c.961G>A (p.Gly321Ser)
|
rs41554817
|
0.00029
|
NM_004369.4(COL6A3):c.5833G>C (p.Val1945Leu)
|
rs113332380
|
0.00029
|
NM_015214.3(DDHD2):c.1982A>G (p.Tyr661Cys)
|
rs201656753
|
0.00027
|
NM_000094.4(COL7A1):c.1348C>T (p.Arg450Cys)
|
rs139434755
|
0.00026
|
NM_001267550.2(TTN):c.16477G>A (p.Gly5493Ser)
|
rs377042940
|
0.00026
|
NM_001369.3(DNAH5):c.4961G>A (p.Arg1654Gln)
|
rs150868941
|
0.00026
|
NM_000096.4(CP):c.2158C>T (p.Arg720Trp)
|
rs145784949
|
0.00025
|
NM_133642.5(LARGE1):c.178C>T (p.Arg60Trp)
|
rs142135345
|
0.00025
|
NM_053025.4(MYLK):c.5477C>T (p.Ala1826Val)
|
rs147187907
|
0.00022
|
NM_001267550.2(TTN):c.31114G>C (p.Glu10372Gln)
|
rs200831060
|
0.00020
|
NM_144997.7(FLCN):c.396+4A>G
|
rs370353839
|
0.00020
|
NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg)
|
rs56399857
|
0.00019
|
NM_001458.5(FLNC):c.1924G>A (p.Val642Ile)
|
rs369387744
|
0.00019
|
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His)
|
rs139366548
|
0.00019
|
NM_182961.4(SYNE1):c.13768A>G (p.Asn4590Asp)
|
rs199761238
|
0.00019
|
NM_001267550.2(TTN):c.26935A>C (p.Asn8979His)
|
rs376982715
|
0.00018
|
NM_003239.5(TGFB3):c.412T>G (p.Ser138Ala)
|
rs201453600
|
0.00018
|
NM_014639.4(SKIC3):c.3808C>G (p.Pro1270Ala)
|
rs146627706
|
0.00018
|
NM_053025.4(MYLK):c.2461C>T (p.Arg821Trp)
|
rs150007422
|
0.00018
|
NM_198253.3(TERT):c.604G>A (p.Ala202Thr)
|
rs121918661
|
0.00018
|
NM_004667.6(HERC2):c.293T>C (p.Leu98Pro)
|
rs142254143
|
0.00017
|
NM_000249.4(MLH1):c.65G>C (p.Gly22Ala)
|
rs41295280
|
0.00016
|
NM_002693.3(POLG):c.32G>A (p.Gly11Asp)
|
rs765472726
|
0.00016
|
NM_004004.6(GJB2):c.355G>A (p.Glu119Lys)
|
rs150529554
|
0.00016
|
NM_000218.3(KCNQ1):c.217C>A (p.Pro73Thr)
|
rs199472676
|
0.00015
|
NM_004380.3(CREBBP):c.2846C>T (p.Pro949Leu)
|
rs147083140
|
0.00015
|
NM_005591.4(MRE11):c.1504C>T (p.Arg502Cys)
|
rs186333183
|
0.00015
|
NM_053025.4(MYLK):c.2023G>A (p.Gly675Arg)
|
rs147008323
|
0.00015
|
NM_000784.4(CYP27A1):c.215T>A (p.Leu72Gln)
|
rs138189735
|
0.00014
|
NM_006612.6(KIF1C):c.2920G>A (p.Asp974Asn)
|
rs550136320
|
0.00014
|
NM_025137.4(SPG11):c.2318T>G (p.Val773Gly)
|
rs182080501
|
0.00014
|
NM_182961.4(SYNE1):c.23222A>G (p.Tyr7741Cys)
|
rs34974663
|
0.00014
|
NM_000041.4(APOE):c.434G>A (p.Gly145Asp)
|
rs267606664
|
0.00013
|
NM_000540.3(RYR1):c.14270G>A (p.Arg4757His)
|
rs768360593
|
0.00013
|
NM_001267550.2(TTN):c.36803C>G (p.Pro12268Arg)
|
rs997014833
|
0.00013
|
NM_020812.4(DOCK6):c.3191T>C (p.Leu1064Pro)
|
rs370735885
|
0.00013
|
NM_001267550.2(TTN):c.36737A>T (p.Glu12246Val)
|
rs786205395
|
0.00012
|
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly)
|
rs116788608
|
0.00011
|
NM_001365276.2(TNXB):c.12210+5G>A
|
rs4959085
|
0.00011
|
NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln)
|
rs34321232
|
0.00011
|
NM_003995.4(NPR2):c.830A>G (p.Asn277Ser)
|
rs770531192
|
0.00011
|
NM_013254.4(TBK1):c.871A>G (p.Lys291Glu)
|
rs34774243
|
0.00011
|
NM_016938.5(EFEMP2):c.1065C>A (p.Ser355Arg)
|
rs377646143
|
0.00011
|
NM_000093.5(COL5A1):c.1970C>T (p.Pro657Leu)
|
rs149912828
|
0.00010
|
NM_001110556.2(FLNA):c.7903G>A (p.Glu2635Lys)
|
rs369717556
|
0.00010
|
NM_003239.5(TGFB3):c.873G>A (p.Pro291=)
|
rs370006165
|
0.00010
|
NM_018718.3(CEP41):c.5C>T (p.Ser2Phe)
|
rs782137799
|
0.00010
|
NM_020919.4(ALS2):c.3331G>A (p.Gly1111Ser)
|
rs371454893
|
0.00010
|
NM_000747.3(CHRNB1):c.647G>A (p.Arg216Gln)
|
rs200684767
|
0.00009
|
NM_001267550.2(TTN):c.51668G>A (p.Arg17223Gln)
|
rs142395261
|
0.00009
|
NM_001267550.2(TTN):c.63907G>A (p.Val21303Met)
|
rs372812312
|
0.00009
|
NM_001267550.2(TTN):c.72674C>T (p.Pro24225Leu)
|
rs55992239
|
0.00009
|
NM_001368067.1(LDB3):c.433G>A (p.Gly145Ser)
|
rs376489385
|
0.00009
|
NM_002471.4(MYH6):c.4828C>T (p.Arg1610Cys)
|
rs780726611
|
0.00009
|
NM_006612.6(KIF1C):c.1346A>G (p.Lys449Arg)
|
rs142046798
|
0.00009
|
NM_007126.5(VCP):c.1202A>G (p.Asn401Ser)
|
rs148329626
|
0.00009
|
NM_007194.4(CHEK2):c.556A>C (p.Asn186His)
|
rs146198085
|
0.00009
|
NM_014850.4(SRGAP3):c.2554G>A (p.Gly852Ser)
|
rs201629131
|
0.00009
|
NM_000138.5(FBN1):c.7379A>G (p.Lys2460Arg)
|
rs144189837
|
0.00008
|
NM_000251.3(MSH2):c.913G>A (p.Ala305Thr)
|
rs63751454
|
0.00008
|
NM_001267550.2(TTN):c.98431C>T (p.Arg32811Cys)
|
rs371807358
|
0.00008
|
NM_002637.4(PHKA1):c.2335C>A (p.Gln779Lys)
|
rs144670958
|
0.00008
|
NM_020526.5(EPHA8):c.277G>A (p.Gly93Ser)
|
rs150553424
|
0.00008
|
NM_006059.4(LAMC3):c.2353C>T (p.Arg785Cys)
|
rs144930767
|
0.00007
|
NM_024529.5(CDC73):c.1333G>A (p.Val445Ile)
|
rs368442389
|
0.00007
|
NM_144997.7(FLCN):c.552C>A (p.Asn184Lys)
|
rs143525924
|
0.00007
|
NM_201384.3(PLEC):c.4075C>T (p.Arg1359Cys)
|
rs541323979
|
0.00007
|
NM_000249.4(MLH1):c.955G>A (p.Glu319Lys)
|
rs63750796
|
0.00006
|
NM_000334.4(SCN4A):c.5218C>T (p.Arg1740Trp)
|
rs373804267
|
0.00006
|
NM_001257180.2(SLC20A2):c.542G>A (p.Arg181Gln)
|
rs140059610
|
0.00006
|
NM_001267550.2(TTN):c.3295G>A (p.Val1099Met)
|
rs368282893
|
0.00006
|
NM_001365536.1(SCN9A):c.5945A>T (p.Asp1982Val)
|
rs199822303
|
0.00006
|
NM_001458.5(FLNC):c.1885C>T (p.Arg629Trp)
|
rs759376455
|
0.00006
|
NM_002055.5(GFAP):c.1171+474G>A
|
rs370385098
|
0.00006
|
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys)
|
rs144500145
|
0.00006
|
NM_017617.5(NOTCH1):c.3001G>A (p.Gly1001Ser)
|
rs763621169
|
0.00006
|
NM_020919.4(ALS2):c.2712G>A (p.Thr904=)
|
rs201200488
|
0.00006
|
NM_021625.5(TRPV4):c.1139C>T (p.Thr380Met)
|
rs764949536
|
0.00006
|
NM_021625.5(TRPV4):c.958C>T (p.Arg320Ter)
|
rs142902080
|
0.00006
|
NM_031407.7(HUWE1):c.2387A>T (p.Gln796Leu)
|
rs140366563
|
0.00006
|
NM_032415.7(CARD11):c.2542C>T (p.Arg848Cys)
|
rs753952757
|
0.00006
|
NM_053025.4(MYLK):c.4565T>C (p.Val1522Ala)
|
rs763880352
|
0.00006
|
NM_170707.4(LMNA):c.1567G>A (p.Gly523Arg)
|
rs201583907
|
0.00006
|
NM_000104.4(CYP1B1):c.644G>T (p.Ser215Ile)
|
rs72549384
|
0.00005
|
NM_000230.3(LEP):c.496G>C (p.Gly166Arg)
|
rs759854910
|
0.00005
|
NM_001267550.2(TTN):c.19481T>G (p.Leu6494Arg)
|
rs376857772
|
0.00005
|
NM_001291415.2(KDM6A):c.2018G>A (p.Arg673His)
|
rs369284316
|
0.00005
|
NM_001927.4(DES):c.1123C>T (p.Arg375Trp)
|
rs375218723
|
0.00005
|
NM_002485.5(NBN):c.664T>C (p.Phe222Leu)
|
rs541992192
|
0.00005
|
NM_003239.5(TGFB3):c.559G>A (p.Gly187Ser)
|
rs201063101
|
0.00005
|
NM_017617.5(NOTCH1):c.4492A>G (p.Lys1498Glu)
|
rs745681787
|
0.00005
|
NM_000051.4(ATM):c.4148C>T (p.Ser1383Leu)
|
rs141087784
|
0.00004
|
NM_000138.5(FBN1):c.6055G>A (p.Glu2019Lys)
|
rs377149130
|
0.00004
|
NM_000249.4(MLH1):c.52C>T (p.Arg18Cys)
|
rs367654552
|
0.00004
|
NM_000754.4(COMT):c.535A>T (p.Lys179Ter)
|
rs770596060
|
0.00004
|
NM_001113491.2(SEPTIN9):c.974G>A (p.Arg325Gln)
|
rs377514245
|
0.00004
|
NM_001267550.2(TTN):c.22386T>A (p.Asp7462Glu)
|
rs183482849
|
0.00004
|
NM_001267550.2(TTN):c.80905G>A (p.Val26969Ile)
|
rs377667066
|
0.00004
|
NM_001849.4(COL6A2):c.202T>C (p.Phe68Leu)
|
rs766930447
|
0.00004
|
NM_001854.4(COL11A1):c.4627A>C (p.Ile1543Leu)
|
rs558548172
|
0.00004
|
NM_002474.3(MYH11):c.4403C>T (p.Ala1468Val)
|
rs370240337
|
0.00004
|
NM_006790.3(MYOT):c.1159G>A (p.Glu387Lys)
|
rs373489115
|
0.00004
|
NM_018480.7(TMEM126B):c.589A>G (p.Met197Val)
|
rs181963507
|
0.00004
|
NM_176787.5(PIGN):c.2354G>A (p.Arg785His)
|
rs535563062
|
0.00004
|
NM_182961.4(SYNE1):c.21613G>A (p.Val7205Met)
|
rs377449974
|
0.00004
|
NM_000051.4(ATM):c.1464G>T (p.Trp488Cys)
|
rs377597949
|
0.00003
|
NM_000540.3(RYR1):c.821G>C (p.Arg274Pro)
|
rs368711923
|
0.00003
|
NM_000553.6(WRN):c.2978G>A (p.Arg993His)
|
rs370713742
|
0.00003
|
NM_001145252.3(CFP):c.580G>A (p.Gly194Arg)
|
rs755651023
|
0.00003
|
NM_001267550.2(TTN):c.9958G>A (p.Ala3320Thr)
|
rs144100066
|
0.00003
|
NM_001374675.1(HSF4):c.1477T>G (p.Ter493Glu)
|
rs1239772837
|
0.00003
|
NM_002878.4(RAD51D):c.202G>A (p.Gly68Ser)
|
rs775045445
|
0.00003
|
NM_003242.6(TGFBR2):c.94+16273G>A
|
rs781529108
|
0.00003
|
NM_003477.3(PDHX):c.299_301dup (p.Val100_Thr101insIle)
|
rs1279606482
|
0.00003
|
NM_005902.4(SMAD3):c.394A>G (p.Thr132Ala)
|
rs371876622
|
0.00003
|
NM_017617.5(NOTCH1):c.2003C>T (p.Pro668Leu)
|
rs576030298
|
0.00003
|
NM_017617.5(NOTCH1):c.6130G>A (p.Ala2044Thr)
|
rs544856644
|
0.00003
|
NM_000138.5(FBN1):c.7400A>G (p.Gln2467Arg)
|
rs770839761
|
0.00002
|
NM_000540.3(RYR1):c.11302C>T (p.Arg3768Trp)
|
rs910313832
|
0.00002
|
NM_001101362.3(KBTBD13):c.251G>C (p.Cys84Ser)
|
rs999785767
|
0.00002
|
NM_001267550.2(TTN):c.51067G>A (p.Gly17023Arg)
|
rs745424139
|
0.00002
|
NM_001288705.3(CSF1R):c.1913G>C (p.Ser638Thr)
|
rs541530647
|
0.00002
|
NM_001376.5(DYNC1H1):c.9178C>T (p.Arg3060Cys)
|
rs773658296
|
0.00002
|
NM_001845.6(COL4A1):c.1807C>T (p.Pro603Ser)
|
rs747585517
|
0.00002
|
NM_001848.3(COL6A1):c.1982G>A (p.Gly661Asp)
|
rs771702139
|
0.00002
|
NM_003900.5(SQSTM1):c.139C>G (p.Leu47Val)
|
rs779786150
|
0.00002
|
NM_005267.5(GJA8):c.553C>T (p.Arg185Trp)
|
rs201445539
|
0.00002
|
NM_007194.4(CHEK2):c.1053G>T (p.Glu351Asp)
|
rs587782268
|
0.00002
|
NM_020451.3(SELENON):c.1427C>T (p.Ser476Leu)
|
rs368377980
|
0.00002
|
NM_181303.2(NLGN3):c.2399C>T (p.Pro800Leu)
|
rs200889500
|
0.00002
|
NM_181332.3(NLGN4X):c.847G>A (p.Ala283Thr)
|
rs766959779
|
0.00002
|
NM_201384.3(PLEC):c.9544A>G (p.Ser3182Gly)
|
rs1554681219
|
0.00002
|
NM_000051.4(ATM):c.8155C>T (p.Arg2719Cys)
|
rs138526014
|
0.00001
|
NM_000051.4(ATM):c.8327T>C (p.Ile2776Thr)
|
rs746475628
|
0.00001
|
NM_000051.4(ATM):c.8762C>T (p.Thr2921Met)
|
rs730881329
|
0.00001
|
NM_000138.5(FBN1):c.2979C>T (p.Cys993=)
|
rs150126098
|
0.00001
|
NM_000138.5(FBN1):c.6659G>A (p.Arg2220Gln)
|
rs780651466
|
0.00001
|
NM_000157.4(GBA1):c.1475A>T (p.Asp492Val)
|
rs771744004
|
0.00001
|
NM_000179.3(MSH6):c.3679A>T (p.Ile1227Leu)
|
rs587779282
|
0.00001
|
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro)
|
rs587779342
|
0.00001
|
NM_000540.3(RYR1):c.10043G>A (p.Arg3348His)
|
rs193922834
|
0.00001
|
NM_000548.5(TSC2):c.1366G>A (p.Glu456Lys)
|
rs397515142
|
0.00001
|
NM_000548.5(TSC2):c.4408C>T (p.Arg1470Cys)
|
rs767889030
|
0.00001
|
NM_001010892.3(RSPH4A):c.1881C>A (p.Asn627Lys)
|
rs1176590941
|
0.00001
|
NM_001080467.3(MYO5B):c.655C>T (p.Arg219Cys)
|
rs755378266
|
0.00001
|
NM_001081.4(CUBN):c.10471A>G (p.Ser3491Gly)
|
rs1183879233
|
0.00001
|
NM_001110556.2(FLNA):c.5900C>T (p.Ser1967Phe)
|
rs1557176208
|
0.00001
|
NM_001110556.2(FLNA):c.6565G>A (p.Glu2189Lys)
|
rs1405780478
|
0.00001
|
NM_001199280.2(HAS3):c.202C>T (p.Arg68Trp)
|
rs780923057
|
0.00001
|
NM_001267550.2(TTN):c.104018T>C (p.Met34673Thr)
|
rs886042330
|
0.00001
|
NM_001267550.2(TTN):c.32936A>C (p.Glu10979Ala)
|
rs776641064
|
0.00001
|
NM_001267550.2(TTN):c.50293A>C (p.Lys16765Gln)
|
rs1173417812
|
0.00001
|
NM_001267550.2(TTN):c.53445A>G (p.Ile17815Met)
|
rs370843257
|
0.00001
|
NM_001267550.2(TTN):c.67834G>A (p.Asp22612Asn)
|
rs757888367
|
0.00001
|
NM_001267550.2(TTN):c.74527A>G (p.Asn24843Asp)
|
rs373527654
|
0.00001
|
NM_001267550.2(TTN):c.83404A>G (p.Ile27802Val)
|
rs727504723
|
0.00001
|
NM_001374828.1(ARID1B):c.4091C>T (p.Ser1364Leu)
|
rs1187357394
|
0.00001
|
NM_001849.4(COL6A2):c.2197G>A (p.Gly733Arg)
|
rs886042922
|
0.00001
|
NM_001999.4(FBN2):c.3280G>A (p.Gly1094Arg)
|
rs758659538
|
0.00001
|
NM_002180.3(IGHMBP2):c.167G>A (p.Arg56His)
|
rs571887680
|
0.00001
|
NM_002180.3(IGHMBP2):c.181G>C (p.Gly61Arg)
|
rs1057518943
|
0.00001
|
NM_002335.4(LRP5):c.3232C>G (p.Arg1078Gly)
|
rs765402802
|
0.00001
|
NM_002880.4(RAF1):c.29C>T (p.Thr10Met)
|
rs144637992
|
0.00001
|
NM_003000.3(SDHB):c.635T>A (p.Leu212His)
|
rs1307247907
|
0.00001
|
NM_004281.4(BAG3):c.794C>T (p.Pro265Leu)
|
rs769034041
|
0.00001
|
NM_004281.4(BAG3):c.826C>T (p.Arg276Trp)
|
rs759573189
|
0.00001
|
NM_004320.6(ATP2A1):c.1324G>A (p.Glu442Lys)
|
rs772006459
|
0.00001
|
NM_004369.4(COL6A3):c.5777C>T (p.Thr1926Met)
|
rs763172498
|
0.00001
|
NM_004463.3(FGD1):c.2168G>A (p.Arg723Gln)
|
rs1253728802
|
0.00001
|
NM_004612.4(TGFBR1):c.1205A>G (p.Tyr402Cys)
|
rs762486367
|
0.00001
|
NM_004984.4(KIF5A):c.2452G>A (p.Glu818Lys)
|
rs766050696
|
0.00001
|
NM_005188.4(CBL):c.1649G>A (p.Arg550Gln)
|
rs1949973841
|
0.00001
|
NM_005297.4(MCHR1):c.530C>T (p.Pro177Leu)
|
rs762669619
|
0.00001
|
NM_005592.4(MUSK):c.629-3C>T
|
rs577774989
|
0.00001
|
NM_005633.4(SOS1):c.571G>A (p.Glu191Lys)
|
rs886041241
|
0.00001
|
NM_005902.4(SMAD3):c.401T>C (p.Val134Ala)
|
rs863223767
|
0.00001
|
NM_006258.4(PRKG1):c.1016T>C (p.Leu339Ser)
|
rs775720873
|
0.00001
|
NM_006772.3(SYNGAP1):c.2837G>A (p.Gly946Glu)
|
rs752316341
|
0.00001
|
NM_007078.3(LDB3):c.1870G>A (p.Ala624Thr)
|
rs879218802
|
0.00001
|
NM_007078.3(LDB3):c.742G>A (p.Ala248Thr)
|
rs369419493
|
0.00001
|
NM_007078.3(LDB3):c.796C>T (p.Arg266Cys)
|
rs776803568
|
0.00001
|
NM_007194.4(CHEK2):c.507T>G (p.Phe169Leu)
|
rs876659233
|
0.00001
|
NM_012309.5(SHANK2):c.2699C>T (p.Pro900Leu)
|
rs2058829550
|
0.00001
|
NM_019594.4(LRRC8A):c.670G>A (p.Val224Met)
|
rs958031501
|
0.00001
|
NM_020549.5(CHAT):c.1679G>A (p.Arg560His)
|
rs121912819
|
0.00001
|
NM_032119.4(ADGRV1):c.7735G>A (p.Val2579Met)
|
rs755818826
|
0.00001
|
NM_153252.5(BRWD3):c.3433G>A (p.Glu1145Lys)
|
rs1085307469
|
0.00001
|
NM_173500.4(TTBK2):c.3328C>T (p.Arg1110Cys)
|
rs562644902
|
0.00001
|
NM_182961.4(SYNE1):c.1544T>A (p.Leu515Gln)
|
rs544309811
|
0.00001
|
NM_000051.4(ATM):c.501G>T (p.Leu167Phe)
|
rs1181703620
|
|
NM_000051.4(ATM):c.649_651dup (p.Ile217dup)
|
rs1565369864
|
|
NM_000051.4(ATM):c.8659C>G (p.His2887Asp)
|
rs1591274530
|
|
NM_000052.7(ATP7A):c.961T>C (p.Tyr321His)
|
rs2149083216
|
|
NM_000090.4(COL3A1):c.821A>G (p.Glu274Gly)
|
rs1688177791
|
|
NM_000110.4(DPYD):c.1925T>C (p.Met642Thr)
|
rs2101564724
|
|
NM_000138.5(FBN1):c.2508T>A (p.Ser836Arg)
|
rs193922190
|
|
NM_000138.5(FBN1):c.6314A>T (p.Glu2105Val)
|
rs1165109120
|
|
NM_000214.3(JAG1):c.611A>G (p.Asp204Gly)
|
rs2122623598
|
|
NM_000251.3(MSH2):c.2576_2584del (p.Glu859_Gln861del)
|
rs587781278
|
|
NM_000314.8(PTEN):c.41G>A (p.Arg14Lys)
|
rs1589596246
|
|
NM_000400.4(ERCC2):c.1802G>A (p.Arg601Gln)
|
rs140522180
|
|
NM_000525.4(KCNJ11):c.973C>A (p.Arg325Ser)
|
rs550315112
|
|
NM_001101362.3(KBTBD13):c.742C>T (p.Arg248Cys)
|
rs200549195
|
|
NM_001110556.2(FLNA):c.1192G>T (p.Ala398Ser)
|
rs782633612
|
|
NM_001110556.2(FLNA):c.2993C>G (p.Ala998Gly)
|
rs782099443
|
|
NM_001110556.2(FLNA):c.5152G>A (p.Gly1718Ser)
|
rs2148107431
|
|
NM_001244008.2(KIF1A):c.110T>C (p.Ile37Thr)
|
rs2055352103
|
|
NM_001267550.2(TTN):c.14582A>G (p.Asp4861Gly)
|
rs566100734
|
|
NM_001267550.2(TTN):c.29572A>G (p.Lys9858Glu)
|
rs2154291591
|
|
NM_001267550.2(TTN):c.88037A>T (p.Asp29346Val)
|
rs374741129
|
|
NM_001270974.2(HYDIN):c.11472-2A>G
|
rs200565025
|
|
NM_001376.5(DYNC1H1):c.12191C>T (p.Thr4064Met)
|
rs750249796
|
|
NM_001458.5(FLNC):c.3055G>A (p.Gly1019Ser)
|
rs200864007
|
|
NM_001458.5(FLNC):c.6824G>T (p.Ser2275Ile)
|
rs2128939487
|
|
NM_001658.4(ARF1):c.296G>A (p.Arg99His)
|
rs1558087712
|
|
NM_001715.3(BLK):c.391C>T (p.Arg131Trp)
|
rs73663163
|
|
NM_001845.6(COL4A1):c.2657C>T (p.Thr886Ile)
|
rs770887997
|
|
NM_001852.4(COL9A2):c.1982C>G (p.Pro661Arg)
|
rs150687987
|
|
NM_001904.4(CTNNB1):c.1140C>G (p.Asn380Lys)
|
rs1334749796
|
|
NM_002070.4(GNAI2):c.535C>T (p.Arg179Cys)
|
rs137853226
|
|
NM_002609.4(PDGFRB):c.1574C>T (p.Pro525Leu)
|
rs2113902466
|
|
NM_002637.4(PHKA1):c.1508G>A (p.Gly503Glu)
|
rs1049971949
|
|
NM_002819.5(PTBP1):c.1A>G (p.Met1Val)
|
rs2145008460
|
|
NM_002880.4(RAF1):c.1770G>C (p.Lys590Asn)
|
rs773583951
|
|
NM_003001.5(SDHC):c.202T>C (p.Ser68Pro)
|
rs2102336180
|
|
NM_003105.6(SORL1):c.2441G>A (p.Arg814His)
|
rs372764840
|
|
NM_003280.3(TNNC1):c.157A>G (p.Thr53Ala)
|
rs1553651742
|
|
NM_003545.4(H4C5):c.136C>T (p.Arg46Cys)
|
rs950721550
|
|
NM_003673.4(TCAP):c.313G>A (p.Glu105Lys)
|
rs146906267
|
|
NM_003680.4(YARS1):c.40A>T (p.Ile14Phe)
|
rs763337272
|
|
NM_004092.4(ECHS1):c.563C>T (p.Ala188Val)
|
rs1164154836
|
|
NM_004281.4(BAG3):c.1663_1666dup (p.Ala556fs)
|
rs1273311196
|
|
NM_004380.3(CREBBP):c.7282G>C (p.Gly2428Arg)
|
rs761138453
|
|
NM_005529.7(HSPG2):c.3505G>A (p.Glu1169Lys)
|
rs970856044
|
|
NM_005902.4(SMAD3):c.728G>C (p.Arg243Pro)
|
rs863223736
|
|
NM_006258.4(PRKG1):c.421A>G (p.Lys141Glu)
|
rs761759814
|
|
NM_006296.7(VRK2):c.*102_*105dup
|
rs759217526
|
|
NM_006502.3(POLH):c.1247CTC[2] (p.Pro418del)
|
rs747834463
|
|
NM_006854.4(KDELR2):c.34C>G (p.His12Asp)
|
rs1785976222
|
|
NM_007118.4(TRIO):c.3233G>A (p.Arg1078Gln)
|
rs1745369142
|
|
NM_007194.4(CHEK2):c.115T>C (p.Ser39Pro)
|
rs1060502696
|
|
NM_007194.4(CHEK2):c.1169A>G (p.Tyr390Cys)
|
rs200928781
|
|
NM_007194.4(CHEK2):c.239C>A (p.Pro80His)
|
rs876659006
|
|
NM_007194.4(CHEK2):c.983T>C (p.Phe328Ser)
|
rs1555915377
|
|
NM_017534.6(MYH2):c.5148T>A (p.Ser1716Arg)
|
rs2073323301
|
|
NM_018206.6(VPS35):c.2222A>C (p.Gln741Pro)
|
rs547805228
|
|
NM_020134.4(DPYSL5):c.121G>A (p.Glu41Lys)
|
rs866373727
|
|
NM_020631.6(PLEKHG5):c.335G>T (p.Gly112Val)
|
rs2148591435
|
|
NM_020928.2(ZSWIM6):c.442GGC[5] (p.Gly153_Gly154del)
|
rs864309616
|
|
NM_022041.4(GAN):c.1583G>T (p.Ser528Ile)
|
rs1904284730
|
|
NM_022166.4(XYLT1):c.1429C>T (p.Arg477Cys)
|
rs1180844430
|
|
NM_030787.4(CFHR5):c.485_486dup (p.Glu163fs)
|
rs565457964
|
|
NM_052813.5(CARD9):c.1434+1G>C
|
rs141992399
|
|
NM_133433.4(NIPBL):c.507G>T (p.Gln169His)
|
rs2149607854
|
|
NM_182961.4(SYNE1):c.17483C>G (p.Thr5828Arg)
|
rs150376715
|
|
NM_198253.3(TERT):c.2303A>T (p.Asp768Val)
|
rs1579564948
|
|
NM_199437.2(PRDM10):c.2018G>A (p.Cys673Tyr)
|
rs1319176059
|
|
NM_201384.3(PLEC):c.5968G>A (p.Val1990Met)
|
rs201588551
|
|
NM_203447.4(DOCK8):c.1798-4A>G
|
rs774596616
|
|