NM_000410.4(HFE):c.187C>G (p.His63Asp)
|
rs1799945
|
0.10170
|
NM_000518.5(HBB):c.20A>T (p.Glu7Val)
|
rs334
|
0.01298
|
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys)
|
rs28929474
|
0.01282
|
NM_016233.2(PADI3):c.881C>T (p.Ala294Val)
|
rs144080386
|
0.00620
|
NM_000371.4(TTR):c.424G>A (p.Val142Ile)
|
rs76992529
|
0.00501
|
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)
|
rs34557412
|
0.00403
|
NM_000152.5(GAA):c.-32-13T>G
|
rs386834236
|
0.00384
|
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)
|
rs534542684
|
0.00347
|
NM_000939.4(POMC):c.706C>G (p.Arg236Gly)
|
rs28932472
|
0.00286
|
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys)
|
rs1800386
|
0.00237
|
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00212
|
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys)
|
rs121918007
|
0.00200
|
NM_007194.4(CHEK2):c.1100del (p.Thr367fs)
|
rs555607708
|
0.00181
|
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr)
|
rs121912691
|
0.00175
|
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr)
|
rs114925667
|
0.00169
|
NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn)
|
rs121434346
|
0.00168
|
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)
|
rs34612342
|
0.00168
|
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)
|
rs113994096
|
0.00160
|
NM_001001548.3(CD36):c.1150del (p.Ala384fs)
|
rs551607784
|
0.00157
|
NM_000431.4(MVK):c.1129G>A (p.Val377Ile)
|
rs28934897
|
0.00156
|
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)
|
rs28940579
|
0.00147
|
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)
|
rs75184679
|
0.00141
|
NM_001171.6(ABCC6):c.3421C>T (p.Arg1141Ter)
|
rs72653706
|
0.00122
|
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter)
|
rs121434254
|
0.00105
|
NM_021628.3(ALOXE3):c.1889C>T (p.Pro630Leu)
|
rs147149459
|
0.00105
|
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)
|
rs28937900
|
0.00103
|
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter)
|
rs121908119
|
0.00087
|
NM_194318.4(B3GLCT):c.660+1G>A
|
rs80338851
|
0.00083
|
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)
|
rs113994097
|
0.00081
|
NM_000158.4(GBE1):c.691+2T>C
|
rs192044702
|
0.00078
|
NM_001127178.3(PIGG):c.1515G>A (p.Trp505Ter)
|
rs150259543
|
0.00073
|
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter)
|
rs80338933
|
0.00067
|
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter)
|
rs121907943
|
0.00063
|
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter)
|
rs121965020
|
0.00063
|
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro)
|
rs145303331
|
0.00062
|
NM_001177316.2(SLC34A3):c.575C>T (p.Ser192Leu)
|
rs199690076
|
0.00059
|
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met)
|
rs150591260
|
0.00057
|
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln)
|
rs74315342
|
0.00054
|
NM_000391.4(TPP1):c.509-1G>C
|
rs56144125
|
0.00053
|
NM_000298.6(PKLR):c.1529G>A (p.Arg510Gln)
|
rs113403872
|
0.00052
|
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser)
|
rs202088921
|
0.00052
|
NM_000250.2(MPO):c.518A>G (p.Tyr173Cys)
|
rs78950939
|
0.00051
|
NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter)
|
rs80356682
|
0.00049
|
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter)
|
rs1805137
|
0.00048
|
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)
|
rs141138948
|
0.00048
|
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)
|
rs137852944
|
0.00048
|
NM_000487.6(ARSA):c.465+1G>A
|
rs80338815
|
0.00046
|
NM_001370658.1(BTD):c.1308A>C (p.Gln436His)
|
rs80338685
|
0.00046
|
NM_006412.4(AGPAT2):c.589-2A>G
|
rs116807569
|
0.00043
|
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln)
|
rs77563738
|
0.00041
|
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu)
|
rs28940893
|
0.00037
|
NM_203447.4(DOCK8):c.54-1G>T
|
rs192864327
|
0.00036
|
NM_005373.3(MPL):c.305G>C (p.Arg102Pro)
|
rs28928907
|
0.00035
|
NM_016123.4(IRAK4):c.877C>T (p.Gln293Ter)
|
rs121908002
|
0.00035
|
NM_000277.3(PAH):c.898G>T (p.Ala300Ser)
|
rs5030853
|
0.00034
|
NM_017739.4(POMGNT1):c.1539+1G>A
|
rs138642840
|
0.00034
|
NM_000277.3(PAH):c.194T>C (p.Ile65Thr)
|
rs75193786
|
0.00032
|
NM_000587.4(C7):c.2350+2T>C
|
rs201240159
|
0.00031
|
NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter)
|
rs34295337
|
0.00030
|
NM_000359.3(TGM1):c.919C>G (p.Arg307Gly)
|
rs121918731
|
0.00029
|
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser)
|
rs74315457
|
0.00029
|
NM_025114.4(CEP290):c.2991+1655A>G
|
rs281865192
|
0.00029
|
NM_000277.3(PAH):c.1066-11G>A
|
rs5030855
|
0.00028
|
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)
|
rs5030868
|
0.00028
|
NM_000359.3(TGM1):c.877-2A>G
|
rs142634031
|
0.00027
|
NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter)
|
rs137853108
|
0.00026
|
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)
|
rs61750420
|
0.00025
|
NM_001126108.2(SLC12A3):c.2856+1G>T
|
rs199974259
|
0.00024
|
NM_004667.6(HERC2):c.10021C>T (p.Gln3341Ter)
|
rs371406398
|
0.00024
|
NM_006949.4(STXBP2):c.1247-1G>C
|
rs140148806
|
0.00024
|
NM_030653.4(DDX11):c.1763-1G>C
|
rs148856317
|
0.00024
|
NM_001163435.3(TBCK):c.376C>T (p.Arg126Ter)
|
rs575822089
|
0.00023
|
NM_000277.3(PAH):c.782G>A (p.Arg261Gln)
|
rs5030849
|
0.00022
|
NM_020975.6(RET):c.2410G>A (p.Val804Met)
|
rs79658334
|
0.00022
|
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)
|
rs80359550
|
0.00019
|
NM_000431.4(MVK):c.803T>C (p.Ile268Thr)
|
rs104895304
|
0.00018
|
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe)
|
rs72552778
|
0.00018
|
NM_001126108.2(SLC12A3):c.2549T>C (p.Leu850Pro)
|
rs121909379
|
0.00018
|
NM_001282225.2(ADA2):c.973-2A>G
|
rs139750129
|
0.00018
|
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter)
|
rs104893851
|
0.00017
|
NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg)
|
rs200287952
|
0.00016
|
NM_147191.1(MMP21):c.1372C>T (p.Arg458Ter)
|
rs145119918
|
0.00016
|
NM_000277.3(PAH):c.1042C>G (p.Leu348Val)
|
rs62516092
|
0.00014
|
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu)
|
rs140012781
|
0.00014
|
NM_001139.3(ALOX12B):c.1562A>G (p.Tyr521Cys)
|
rs199766569
|
0.00014
|
NM_017777.4(MKS1):c.417G>A (p.Glu139=)
|
rs386834048
|
0.00014
|
NM_001128178.3(NPHP1):c.859G>A (p.Gly287Arg)
|
rs121907899
|
0.00013
|
NM_005912.2(MC4R):c.105C>A (p.Tyr35Ter)
|
rs13447324
|
0.00013
|
NM_021628.3(ALOXE3):c.700C>T (p.Arg234Ter)
|
rs121434233
|
0.00013
|
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)
|
rs61752717
|
0.00012
|
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys)
|
rs118192172
|
0.00011
|
NM_001126108.2(SLC12A3):c.961C>T (p.Arg321Trp)
|
rs150046661
|
0.00011
|
NM_003742.4(ABCB11):c.890A>G (p.Glu297Gly)
|
rs11568372
|
0.00011
|
NM_005138.3(SCO2):c.418G>A (p.Glu140Lys)
|
rs74315511
|
0.00011
|
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu)
|
rs140511594
|
0.00011
|
NM_170784.3(MKKS):c.110A>G (p.Tyr37Cys)
|
rs74315396
|
0.00011
|
NM_000243.3(MEFV):c.2282G>A (p.Arg761His)
|
rs104895097
|
0.00010
|
NM_000277.3(PAH):c.533A>G (p.Glu178Gly)
|
rs77958223
|
0.00010
|
NM_000388.4(CASR):c.73C>T (p.Arg25Ter)
|
rs201633414
|
0.00010
|
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met)
|
rs104893688
|
0.00010
|
NM_012275.3(IL36RN):c.142C>T (p.Arg48Trp)
|
rs151325121
|
0.00010
|
NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter)
|
rs376161880
|
0.00010
|
NM_000277.3(PAH):c.721C>T (p.Arg241Cys)
|
rs76687508
|
0.00009
|
NM_001126108.2(SLC12A3):c.1315G>A (p.Gly439Ser)
|
rs759377924
|
0.00009
|
NM_001374385.1(ATP8B1):c.1982T>C (p.Ile661Thr)
|
rs121909100
|
0.00009
|
NM_004287.5(GOSR2):c.430G>T (p.Gly144Trp)
|
rs387906881
|
0.00009
|
NM_016122.3(CEP83):c.625C>T (p.Arg209Ter)
|
rs369483167
|
0.00009
|
NM_001127649.3(PEX26):c.292C>T (p.Arg98Trp)
|
rs62641228
|
0.00008
|
NM_000277.3(PAH):c.473G>A (p.Arg158Gln)
|
rs5030843
|
0.00007
|
NM_001017420.3(ESCO2):c.1132-7A>G
|
rs80359862
|
0.00007
|
NM_004320.6(ATP2A1):c.100G>T (p.Glu34Ter)
|
rs141559558
|
0.00007
|
NM_004646.4(NPHS1):c.1868G>T (p.Cys623Phe)
|
rs386833895
|
0.00007
|
NM_025099.6(CTC1):c.2923A>G (p.Arg975Gly)
|
rs199473678
|
0.00007
|
NM_025216.3(WNT10A):c.383G>A (p.Arg128Gln)
|
rs121908121
|
0.00007
|
NM_178170.3(NEK8):c.1795C>T (p.Arg599Ter)
|
rs375661404
|
0.00007
|
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile)
|
rs28940578
|
0.00006
|
NM_000277.3(PAH):c.814G>T (p.Gly272Ter)
|
rs62514952
|
0.00006
|
NM_000487.6(ARSA):c.641C>T (p.Ala214Val)
|
rs74315467
|
0.00006
|
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter)
|
rs199469707
|
0.00006
|
NM_017837.4(PIGV):c.439C>T (p.Gln147Ter)
|
rs185641230
|
0.00006
|
NM_025009.5(CEP135):c.874C>T (p.Arg292Ter)
|
rs752140135
|
0.00006
|
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)
|
rs137852832
|
0.00006
|
NM_153704.6(TMEM67):c.755T>C (p.Met252Thr)
|
rs202149403
|
0.00006
|
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn)
|
rs74315445
|
0.00005
|
NM_000228.3(LAMB3):c.727C>T (p.Gln243Ter)
|
rs80356681
|
0.00005
|
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys)
|
rs730880555
|
0.00005
|
NM_000518.5(HBB):c.92+1G>A
|
rs33971440
|
0.00005
|
NM_001126108.2(SLC12A3):c.2938G>A (p.Gly980Arg)
|
rs34803727
|
0.00005
|
NM_138704.4(NSMCE3):c.790C>T (p.Leu264Phe)
|
rs199905054
|
0.00005
|
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter)
|
rs587779884
|
0.00004
|
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter)
|
rs140826989
|
0.00004
|
NM_000152.5(GAA):c.1655T>C (p.Leu552Pro)
|
rs779556619
|
0.00004
|
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp)
|
rs104895079
|
0.00004
|
NM_000277.3(PAH):c.331C>T (p.Arg111Ter)
|
rs76296470
|
0.00004
|
NM_000277.3(PAH):c.727C>T (p.Arg243Ter)
|
rs5030846
|
0.00004
|
NM_000277.3(PAH):c.842+1G>A
|
rs5030852
|
0.00004
|
NM_000371.4(TTR):c.148G>A (p.Val50Met)
|
rs28933979
|
0.00004
|
NM_000481.4(AMT):c.959G>A (p.Arg320His)
|
rs121964985
|
0.00004
|
NM_000487.6(ARSA):c.257G>A (p.Arg86Gln)
|
rs74315458
|
0.00004
|
NM_000487.6(ARSA):c.293C>T (p.Ser98Phe)
|
rs74315456
|
0.00004
|
NM_000498.3(CYP11B2):c.554C>T (p.Thr185Ile)
|
rs121912978
|
0.00004
|
NM_003119.4(SPG7):c.861+2dup
|
rs771256761
|
0.00004
|
NM_003742.4(ABCB11):c.3457C>T (p.Arg1153Cys)
|
rs72549395
|
0.00004
|
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly)
|
rs28897672
|
0.00004
|
NM_018136.5(ASPM):c.3811C>T (p.Arg1271Ter)
|
rs140602858
|
0.00004
|
NM_018136.5(ASPM):c.9190C>T (p.Arg3064Ter)
|
rs199422185
|
0.00004
|
NM_024876.4(COQ8B):c.532C>T (p.Arg178Trp)
|
rs398122978
|
0.00004
|
NM_025132.4(WDR19):c.641T>A (p.Leu214Ter)
|
rs751290509
|
0.00004
|
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln)
|
rs59301204
|
0.00004
|
NM_000085.5(CLCNKB):c.968+1G>A
|
rs201204502
|
0.00003
|
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter)
|
rs780321415
|
0.00003
|
NM_000152.5(GAA):c.925G>A (p.Gly309Arg)
|
rs543300039
|
0.00003
|
NM_000277.3(PAH):c.311C>A (p.Ala104Asp)
|
rs62642929
|
0.00003
|
NM_000277.3(PAH):c.937G>A (p.Ala313Thr)
|
rs62642912
|
0.00003
|
NM_000286.3(PEX12):c.126+1G>T
|
rs144259891
|
0.00003
|
NM_000298.6(PKLR):c.401T>A (p.Val134Asp)
|
rs574051756
|
0.00003
|
NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn)
|
rs104894503
|
0.00003
|
NM_001126108.2(SLC12A3):c.815T>C (p.Leu272Pro)
|
rs568513106
|
0.00003
|
NM_001329943.3(KIAA0586):c.2536del (p.Val846fs)
|
rs1307758243
|
0.00003
|
NM_001360.3(DHCR7):c.3G>A (p.Met1Ile)
|
rs121909767
|
0.00003
|
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln)
|
rs376607329
|
0.00003
|
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter)
|
rs104893950
|
0.00003
|
NM_018941.4(CLN8):c.470A>G (p.His157Arg)
|
rs149308952
|
0.00003
|
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn)
|
rs36211723
|
0.00002
|
NM_000256.3(MYBPC3):c.26-2A>G
|
rs376395543
|
0.00002
|
NM_000277.3(PAH):c.842+5G>A
|
rs62516146
|
0.00002
|
NM_000487.6(ARSA):c.346C>T (p.Arg116Ter)
|
rs761860059
|
0.00002
|
NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter)
|
rs267606814
|
0.00002
|
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser)
|
rs137852972
|
0.00002
|
NM_001195248.2(APTX):c.559C>T (p.Gln187Ter)
|
rs770579215
|
0.00002
|
NM_001195518.2(MICU1):c.735+1G>A
|
rs369915689
|
0.00002
|
NM_001399.5(EDA):c.463C>T (p.Arg155Cys)
|
rs132630312
|
0.00002
|
NM_003041.4(SLC5A2):c.1102C>T (p.Arg368Trp)
|
rs148410166
|
0.00002
|
NM_024685.4(BBS10):c.1838A>G (p.Tyr613Cys)
|
rs575957641
|
0.00002
|
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter)
|
rs539400286
|
0.00002
|
NM_207361.6(FREM2):c.2206C>T (p.Arg736Ter)
|
rs939534674
|
0.00002
|
NM_000053.4(ATP7B):c.51+4A>T
|
rs369488210
|
0.00001
|
NM_000059.4(BRCA2):c.5857G>T (p.Glu1953Ter)
|
rs80358814
|
0.00001
|
NM_000070.3(CAPN3):c.1342C>T (p.Arg448Cys)
|
rs776043976
|
0.00001
|
NM_000091.5(COL4A3):c.1918G>A (p.Gly640Arg)
|
rs200672668
|
0.00001
|
NM_000092.5(COL4A4):c.2690G>A (p.Gly897Glu)
|
rs121912860
|
0.00001
|
NM_000132.4(F8):c.5122C>T (p.Arg1708Cys)
|
rs111033613
|
0.00001
|
NM_000132.4(F8):c.5954G>A (p.Arg1985Gln)
|
rs1490417405
|
0.00001
|
NM_000152.5(GAA):c.1799G>A (p.Arg600His)
|
rs377544304
|
0.00001
|
NM_000152.5(GAA):c.2331+2T>A
|
rs1057517148
|
0.00001
|
NM_000152.5(GAA):c.875A>G (p.Tyr292Cys)
|
rs1057516600
|
0.00001
|
NM_000170.3(GLDC):c.806C>T (p.Thr269Met)
|
rs386833587
|
0.00001
|
NM_000256.3(MYBPC3):c.3776del (p.Gln1259fs)
|
rs727503166
|
0.00001
|
NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys)
|
rs121913625
|
0.00001
|
NM_000257.4(MYH7):c.1816G>A (p.Val606Met)
|
rs121913627
|
0.00001
|
NM_000297.4(PKD2):c.1249C>T (p.Arg417Ter)
|
rs1324209174
|
0.00001
|
NM_000359.3(TGM1):c.2059C>T (p.Arg687Cys)
|
rs147516124
|
0.00001
|
NM_000363.5(TNNI3):c.433C>T (p.Arg145Trp)
|
rs104894724
|
0.00001
|
NM_000416.3(IFNGR1):c.373+1G>T
|
rs532749039
|
0.00001
|
NM_000419.5(ITGA2B):c.526C>G (p.Pro176Ala)
|
rs2048640485
|
0.00001
|
NM_000431.4(MVK):c.500C>T (p.Pro167Leu)
|
rs104895300
|
0.00001
|
NM_000431.4(MVK):c.59A>C (p.His20Pro)
|
rs104895295
|
0.00001
|
NM_000448.3(RAG1):c.1211G>A (p.Arg404Gln)
|
rs750055861
|
0.00001
|
NM_000481.4(AMT):c.889C>T (p.Arg297Ter)
|
rs766422988
|
0.00001
|
NM_000487.6(ARSA):c.1150G>A (p.Glu384Lys)
|
rs74315479
|
0.00001
|
NM_000492.4(CFTR):c.1766+5G>T
|
rs121908796
|
0.00001
|
NM_000784.4(CYP27A1):c.646G>C (p.Ala216Pro)
|
rs201346271
|
0.00001
|
NM_001126108.2(SLC12A3):c.514T>C (p.Trp172Arg)
|
rs757792232
|
0.00001
|
NM_001134363.3(RBM20):c.1901G>A (p.Arg634Gln)
|
rs267607001
|
0.00001
|
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter)
|
rs587783013
|
0.00001
|
NM_001242896.3(DEPDC5):c.2527C>T (p.Arg843Ter)
|
rs541024038
|
0.00001
|
NM_001267550.2(TTN):c.68484del (p.Lys22828fs)
|
rs1370805955
|
0.00001
|
NM_001267550.2(TTN):c.85090C>T (p.Arg28364Ter)
|
rs770038577
|
0.00001
|
NM_001267550.2(TTN):c.87040C>T (p.Arg29014Ter)
|
rs776065839
|
0.00001
|
NM_001276345.2(TNNT2):c.304C>T (p.Arg102Trp)
|
rs397516456
|
0.00001
|
NM_001943.5(DSG2):c.137G>A (p.Arg46Gln)
|
rs121913008
|
0.00001
|
NM_002049.4(GATA1):c.647G>A (p.Arg216Gln)
|
rs104894809
|
0.00001
|
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)
|
rs121918459
|
0.00001
|
NM_003000.3(SDHB):c.343C>T (p.Arg115Ter)
|
rs751000085
|
0.00001
|
NM_003000.3(SDHB):c.423+1G>A
|
rs398122805
|
0.00001
|
NM_003002.4(SDHD):c.274G>T (p.Asp92Tyr)
|
rs80338845
|
0.00001
|
NM_003052.5(SLC34A1):c.1006+1G>A
|
rs200095793
|
0.00001
|
NM_003060.4(SLC22A5):c.95A>G (p.Asn32Ser)
|
rs72552725
|
0.00001
|
NM_003283.6(TNNT1):c.309+1G>A
|
rs149559898
|
0.00001
|
NM_004960.4(FUS):c.1561C>T (p.Arg521Cys)
|
rs121909668
|
0.00001
|
NM_005477.3(HCN4):c.1444G>C (p.Gly482Arg)
|
rs794727637
|
0.00001
|
NM_005912.3(MC4R):c.493C>T (p.Arg165Trp)
|
rs13447332
|
0.00001
|
NM_006412.4(AGPAT2):c.202C>T (p.Arg68Ter)
|
rs104894093
|
0.00001
|
NM_015910.7(WDPCP):c.541C>T (p.Gln181Ter)
|
rs749286148
|
0.00001
|
NM_020822.3(KCNT1):c.2782C>T (p.Arg928Cys)
|
rs397515405
|
0.00001
|
NM_020975.6(RET):c.1900T>C (p.Cys634Arg)
|
rs75076352
|
0.00001
|
NM_020975.6(RET):c.2370G>T (p.Leu790Phe)
|
rs75030001
|
0.00001
|
NM_022788.5(P2RY12):c.772C>A (p.Pro258Thr)
|
rs202099742
|
0.00001
|
NM_032273.4(TMEM126A):c.163C>T (p.Arg55Ter)
|
rs121434508
|
0.00001
|
NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter)
|
rs781368899
|
0.00001
|
NM_144596.4(TTC8):c.624+1G>A
|
rs587777808
|
0.00001
|
NM_152384.3(BBS5):c.209-2A>G
|
rs1477098739
|
0.00001
|
NM_170707.4(LMNA):c.568C>T (p.Arg190Trp)
|
rs59026483
|
0.00001
|
NM_173842.3(IL1RN):c.229G>T (p.Glu77Ter)
|
rs121913161
|
0.00001
|
NM_181507.2(HPS5):c.1960A>T (p.Lys654Ter)
|
rs1179872960
|
0.00001
|
NM_198252.3(GSN):c.487G>A (p.Asp163Asn)
|
rs121909715
|
0.00001
|
NM_198428.3(BBS9):c.832C>T (p.Arg278Ter)
|
rs767005321
|
0.00001
|
NM_199242.3(UNC13D):c.2695C>T (p.Arg899Ter)
|
rs766657895
|
0.00001
|
NM_000020.3(ACVRL1):c.439C>T (p.Gln147Ter)
|
rs1555152650
|
|
NM_000043.6(FAS):c.749G>A (p.Arg250Gln)
|
rs121913080
|
|
NM_000043.6(FAS):c.749G>C (p.Arg250Pro)
|
rs121913080
|
|
NM_000051.4(ATM):c.1027_1030del (p.Glu343fs)
|
rs587780612
|
|
NM_000051.4(ATM):c.2574dup (p.Asn859Ter)
|
rs587778068
|
|
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer)
|
rs587779834
|
|
NM_000051.4(ATM):c.6529C>T (p.Gln2177Ter)
|
rs766706861
|
|
NM_000051.4(ATM):c.8988-1G>A
|
rs730881386
|
|
NM_000053.4(ATP7B):c.813C>A (p.Cys271Ter)
|
rs572147914
|
|
NM_000054.7(AVPR2):c.310C>T (p.Arg104Cys)
|
rs104894760
|
|
NM_000059.4(BRCA2):c.1794_1798del
|
rs276174813
|
|
NM_000059.4(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer)
|
rs80359388
|
|
NM_000059.4(BRCA2):c.5576_5579del (p.Ile1859fs)
|
rs80359520
|
|
NM_000059.4(BRCA2):c.7617+2T>G
|
rs81002843
|
|
NM_000059.4(BRCA2):c.7806-2A>G
|
rs81002836
|
|
NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs)
|
rs80359752
|
|
NM_000061.3(BTK):c.1573C>T (p.Arg525Ter)
|
rs886041149
|
|
NM_000061.3(BTK):c.862C>T (p.Arg288Trp)
|
rs128621194
|
|
NM_000064.4(C3):c.481C>T (p.Arg161Trp)
|
rs776423109
|
|
NM_000090.4(COL3A1):c.753del (p.Gly252fs)
|
rs2153501973
|
|
NM_000091.5(COL4A3):c.520G>T (p.Gly174Trp)
|
rs1014839148
|
|
NM_000092.5(COL4A4):c.1848del (p.Pro617fs)
|
rs2150476941
|
|
NM_000092.5(COL4A4):c.2833G>T (p.Gly945Ter)
|
rs1303057809
|
|
NM_000132.4(F8):c.1910A>G (p.Asn637Ser)
|
rs2073315379
|
|
NM_000132.4(F8):c.2440C>T (p.Arg814Ter)
|
rs137852437
|
|
NM_000132.4(F8):c.5399G>A (p.Arg1800His)
|
rs137852442
|
|
NM_000132.4(F8):c.541G>A (p.Val181Met)
|
rs137852394
|
|
NM_000132.4(F8):c.6754G>C (p.Asp2252His)
|
rs2072683196
|
|
NM_000132.4(F8):c.6794A>G (p.Gln2265Arg)
|
rs137852470
|
|
NM_000132.4(F8):c.6956C>T (p.Pro2319Leu)
|
rs137852472
|
|
NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter)
|
rs113871094
|
|
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr)
|
rs121918487
|
|
NM_000143.4(FH):c.1210G>T (p.Glu404Ter)
|
rs797044974
|
|
NM_000152.5(GAA):c.1115A>T (p.His372Leu)
|
rs1057516520
|
|
NM_000152.5(GAA):c.1657C>T (p.Gln553Ter)
|
rs1221156663
|
|
NM_000169.3(GLA):c.334C>T (p.Arg112Cys)
|
rs104894834
|
|
NM_000169.3(GLA):c.53T>C (p.Phe18Ser)
|
rs2147487622
|
|
NM_000169.3(GLA):c.658C>T (p.Arg220Ter)
|
rs727503949
|
|
NM_000170.3(GLDC):c.1055C>G (p.Thr352Arg)
|
rs1554648060
|
|
NM_000179.3(MSH6):c.4001G>A (p.Arg1334Gln)
|
rs267608122
|
|
NM_000179.3(MSH6):c.642C>G (p.Tyr214Ter)
|
rs1800937
|
|
NM_000179.3(MSH6):c.694C>T (p.Gln232Ter)
|
rs587779318
|
|
NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp)
|
rs199473411
|
|
NM_000218.3(KCNQ1):c.421G>A (p.Val141Met)
|
rs199472687
|
|
NM_000218.3(KCNQ1):c.568C>T (p.Arg190Trp)
|
rs199473662
|
|
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile)
|
rs28940580
|
|
NM_000245.4(MET):c.3658G>A (p.Val1220Ile)
|
rs121913670
|
|
NM_000249.4(MLH1):c.1896G>A (p.Glu632=)
|
rs63751632
|
|
NM_000249.4(MLH1):c.901C>T (p.Gln301Ter)
|
rs63750489
|
|
NM_000256.3(MYBPC3):c.1404del (p.Gln469fs)
|
rs886037900
|
|
NM_000256.3(MYBPC3):c.1791-1G>A
|
rs2142859427
|
|
NM_000256.3(MYBPC3):c.2749del (p.Val917fs)
|
rs2142853029
|
|
NM_000256.3(MYBPC3):c.3257_3258dup (p.Lys1087fs)
|
rs2142850930
|
|
NM_000256.3(MYBPC3):c.3330+5G>C
|
rs373746463
|
|
NM_000256.3(MYBPC3):c.676_701dup (p.Gly235fs)
|
rs786204329
|
|
NM_000256.3(MYBPC3):c.932C>A (p.Ser311Ter)
|
rs193922386
|
|
NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp)
|
rs3218714
|
|
NM_000257.4(MYH7):c.1208G>A (p.Arg403Gln)
|
rs121913624
|
|
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln)
|
rs121913641
|
|
NM_000257.4(MYH7):c.2334C>G (p.Asp778Glu)
|
rs2069544
|
|
NM_000257.4(MYH7):c.2711G>A (p.Arg904His)
|
rs397516165
|
|
NM_000257.4(MYH7):c.495G>A (p.Met165Ile)
|
rs1555338758
|
|
NM_000257.4(MYH7):c.5754C>G (p.Asn1918Lys)
|
rs138110910
|
|
NM_000257.4(MYH7):c.5773C>G (p.Arg1925Gly)
|
rs755706526
|
|
NM_000277.3(PAH):c.782G>C (p.Arg261Pro)
|
rs5030849
|
|
NM_000278.5(PAX2):c.343C>T (p.Arg115Ter)
|
rs1845412705
|
|
NM_000292.3(PHKA2):c.3614C>T (p.Pro1205Leu)
|
rs137852288
|
|
NM_000297.4(PKD2):c.2286C>A (p.Tyr762Ter)
|
rs555242193
|
|
NM_000297.4(PKD2):c.2584del (p.Ala862fs)
|
rs2110150747
|
|
NM_000297.4(PKD2):c.710-2A>G
|
rs2110104722
|
|
NM_000303.3(PMM2):c.61C>G (p.Arg21Gly)
|
rs758340382
|
|
NM_000335.5(SCN5A):c.481G>A (p.Glu161Lys)
|
rs199473062
|
|
NM_000342.4(SLC4A1):c.37G>T (p.Glu13Ter)
|
rs2144625139
|
|
NM_000363.5(TNNI3):c.626A>C (p.Glu209Ala)
|
rs730881083
|
|
NM_000383.4(AIRE):c.967_979del (p.Leu323fs)
|
rs386833675
|
|
NM_000431.4(MVK):c.185G>A (p.Trp62Ter)
|
rs104895306
|
|
NM_000431.4(MVK):c.925G>A (p.Gly309Ser)
|
rs104895305
|
|
NM_000443.4(ABCB4):c.1893G>C (p.Gln631His)
|
rs1810212221
|
|
NM_000458.4(HNF1B):c.544+1G>A
|
|
|
NM_000490.5(AVP):c.260C>A (p.Ser87Tyr)
|
rs121964890
|
|
NM_000490.5(AVP):c.346T>G (p.Cys116Gly)
|
rs74315383
|
|
NM_000490.5(AVP):c.55G>A (p.Ala19Thr)
|
rs387906511
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu)
|
rs74551128
|
|
NM_000516.7(GNAS):c.1096G>A (p.Ala366Thr)
|
rs137854537
|
|
NM_000540.3(RYR1):c.14581C>T (p.Arg4861Cys)
|
rs118192181
|
|
NM_000551.4(VHL):c.194C>G (p.Ser65Trp)
|
rs5030826
|
|
NM_000551.4(VHL):c.340+1G>A
|
rs730882032
|
|
NM_000551.4(VHL):c.353T>C (p.Leu118Pro)
|
rs5030830
|
|
NM_000551.4(VHL):c.358A>G (p.Arg120Gly)
|
rs869025642
|
|
NM_000551.4(VHL):c.463+3A>G
|
rs1131690954
|
|
NM_000551.4(VHL):c.497T>C (p.Val166Ala)
|
rs397516445
|
|
NM_000551.4(VHL):c.500G>A (p.Arg167Gln)
|
rs5030821
|
|
NM_000551.4(VHL):c.509T>A (p.Val170Asp)
|
rs864321642
|
|
NM_000552.5(VWF):c.2435del (p.Pro812fs)
|
rs62643632
|
|
NM_000552.5(VWF):c.4105T>A (p.Phe1369Ile)
|
rs61750069
|
|
NM_000719.7(CACNA1C):c.2573G>A (p.Arg858His)
|
rs786205753
|
|
NM_000789.4(ACE):c.2673_2674dup (p.Tyr892fs)
|
rs2030333357
|
|
NM_000789.4(ACE):c.870G>A (p.Trp290Ter)
|
rs2147530850
|
|
NM_000834.5(GRIN2B):c.2459G>C (p.Gly820Ala)
|
rs797044849
|
|
NM_001003841.3(SLC6A19):c.1173+2T>G
|
rs142979576
|
|
NM_001005242.3(PKP2):c.1211dup (p.Val406fs)
|
rs397516989
|
|
NM_001005242.3(PKP2):c.2357+4A>C
|
rs1064793905
|
|
NM_001005361.3(DNM2):c.1393C>T (p.Arg465Trp)
|
rs121909091
|
|
NM_001009944.3(PKD1):c.5622G>A (p.Trp1874Ter)
|
rs2151792322
|
|
NM_001009944.3(PKD1):c.7120A>T (p.Lys2374Ter)
|
rs2151776957
|
|
NM_001009944.3(PKD1):c.7546C>T (p.Arg2516Cys)
|
rs797044902
|
|
NM_001009944.3(PKD1):c.7555C>T (p.Gln2519Ter)
|
rs2151772321
|
|
NM_001022.4(RPS19):c.185G>A (p.Arg62Gln)
|
rs1555841301
|
|
NM_001024630.4(RUNX2):c.674G>A (p.Arg225Gln)
|
rs104893991
|
|
NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His)
|
rs886041246
|
|
NM_001032221.6(STXBP1):c.579-2A>G
|
rs112111568
|
|
NM_001032221.6(STXBP1):c.703C>T (p.Arg235Ter)
|
rs796053359
|
|
NM_001035.3(RYR2):c.1069G>A (p.Gly357Ser)
|
rs1401116572
|
|
NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln)
|
rs794728811
|
|
NM_001040142.2(SCN2A):c.781G>A (p.Val261Met)
|
rs1057520413
|
|
NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val)
|
rs387906686
|
|
NM_001065.4(TNFRSF1A):c.151C>T (p.His51Tyr)
|
rs104895227
|
|
NM_001080517.3(SETD5):c.3214C>T (p.Arg1072Ter)
|
rs2045524028
|
|
NM_001080517.3(SETD5):c.3520C>T (p.Arg1174Ter)
|
rs1559496157
|
|
NM_001080522.2(CC2D2A):c.3289delG
|
rs386833751
|
|
NM_001083962.2(TCF4):c.1841C>T (p.Ala614Val)
|
rs1568303352
|
|
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp)
|
rs28934907
|
|
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)
|
rs28934904
|
|
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)
|
rs28934906
|
|
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp)
|
rs61748420
|
|
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter)
|
rs61748421
|
|
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)
|
rs61749721
|
|
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter)
|
rs61750240
|
|
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)
|
rs61751362
|
|
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys)
|
rs28935468
|
|
NM_001114753.3(ENG):c.247C>T (p.Gln83Ter)
|
rs863223532
|
|
NM_001114753.3(ENG):c.67+1G>A
|
rs1554813783
|
|
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His)
|
rs121908216
|
|
NM_001142864.4(PIEZO1):c.7367G>A (p.Arg2456His)
|
rs587776988
|
|
NM_001164508.2(NEB):c.1266T>A (p.Tyr422Ter)
|
rs2149360884
|
|
NM_001165963.4(SCN1A):c.2589+3A>T
|
rs794726775
|
|
NM_001165963.4(SCN1A):c.2837G>A (p.Arg946His)
|
|
|
NM_001165963.4(SCN1A):c.4168G>A (p.Val1390Met)
|
rs121917986
|
|
NM_001165963.4(SCN1A):c.4547C>A (p.Ser1516Ter)
|
rs139300715
|
|
NM_001165963.4(SCN1A):c.4573C>T (p.Arg1525Ter)
|
rs794726752
|
|
NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met)
|
rs121917984
|
|
NM_001170629.2(CHD8):c.3562C>T (p.Arg1188Ter)
|
rs1555314911
|
|
NM_001184880.2(PCDH19):c.1019A>G (p.Asn340Ser)
|
rs796052839
|
|
NM_001184880.2(PCDH19):c.462C>G (p.Tyr154Ter)
|
rs1569315876
|
|
NM_001195553.2(DCX):c.540G>T (p.Lys180Asn)
|
rs1927758267
|
|
NM_001242896.3(DEPDC5):c.2512C>T (p.Arg838Ter)
|
rs1569067939
|
|
NM_001243133.2(NLRP3):c.1043C>T (p.Thr348Met)
|
rs151344629
|
|
NM_001243133.2(NLRP3):c.1316C>T (p.Ala439Val)
|
rs121908146
|
|
NM_001243133.2(NLRP3):c.778C>T (p.Arg260Ter)
|
rs121908150
|
|
NM_001243133.2(NLRP3):c.907G>A (p.Asp303Asn)
|
rs121908153
|
|
NM_001257180.2(SLC20A2):c.1158C>A (p.Tyr386Ter)
|
rs2131006757
|
|
NM_001267550.2(TTN):c.103132C>T (p.Gln34378Ter)
|
rs2154135182
|
|
NM_001267550.2(TTN):c.105428del (p.Gly35143fs)
|
rs886042825
|
|
NM_001267550.2(TTN):c.49263C>A (p.Tyr16421Ter)
|
rs376188859
|
|
NM_001267550.2(TTN):c.53918del (p.Gly17973fs)
|
rs1486129583
|
|
NM_001267550.2(TTN):c.71000G>A (p.Trp23667Ter)
|
rs865930770
|
|
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter)
|
rs397517689
|
|
NM_001267550.2(TTN):c.71848_71855dup (p.Gly23953fs)
|
rs1254650118
|
|
NM_001267550.2(TTN):c.77452G>T (p.Glu25818Ter)
|
rs748619096
|
|
NM_001267550.2(TTN):c.79018G>T (p.Glu26340Ter)
|
rs2154166071
|
|
NM_001267550.2(TTN):c.80530del (p.Ser26844fs)
|
rs2154164929
|
|
NM_001267550.2(TTN):c.82255C>T (p.Gln27419Ter)
|
rs2154161716
|
|
NM_001267550.2(TTN):c.82309_82312dup (p.Asn27438delinsArgTer)
|
rs2154161683
|
|
NM_001267550.2(TTN):c.84524G>A (p.Trp28175Ter)
|
rs2154159874
|
|
NM_001267550.2(TTN):c.85809del (p.Lys28603fs)
|
rs796983799
|
|
NM_001267550.2(TTN):c.86640C>A (p.Tyr28880Ter)
|
rs794729298
|
|
NM_001267550.2(TTN):c.86742_86745del (p.Tyr28915fs)
|
rs1415420768
|
|
NM_001267550.2(TTN):c.89314G>T (p.Glu29772Ter)
|
rs200503016
|
|
NM_001267550.2(TTN):c.98990-1G>T
|
rs796111471
|
|
NM_001282225.2(ADA2):c.140G>T (p.Gly47Val)
|
rs200930463
|
|
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu)
|
rs267608501
|
|
NM_001330260.2(SCN8A):c.4787C>G (p.Ser1596Cys)
|
rs879255705
|
|
NM_001356.5(DDX3X):c.731C>G (p.Ser244Ter)
|
rs1275844963
|
|
NM_001370259.2(MEN1):c.1052A>G (p.Tyr351Cys)
|
rs2136111524
|
|
NM_001370259.2(MEN1):c.1154C>T (p.Ala385Val)
|
rs1298484645
|
|
NM_001370259.2(MEN1):c.1A>G (p.Met1Val)
|
rs386134250
|
|
NM_001374258.1(BRAF):c.2034T>G (p.Asp678Glu)
|
rs180177042
|
|
NM_001374828.1(ARID1B):c.6751C>T (p.Arg2251Ter)
|
rs1554238072
|
|
NM_001378454.1(ALMS1):c.3197_3200del (p.Asp1066fs)
|
rs2103777977
|
|
NM_001458.5(FLNC):c.1948C>T (p.Arg650Ter)
|
rs770606675
|
|
NM_001458.5(FLNC):c.4456+1G>A
|
rs1318885805
|
|
NM_001555.5(IGSF1):c.1966G>A (p.Gly656Arg)
|
rs2124097454
|
|
NM_001692.4(ATP6V1B1):c.175-1G>C
|
rs1572919267
|
|
NM_001848.3(COL6A1):c.1056+1G>A
|
rs398123631
|
|
NM_002180.3(IGHMBP2):c.2911_2912del (p.Arg971fs)
|
rs724159994
|
|
NM_002294.3(LAMP2):c.928G>A (p.Val310Ile)
|
rs104894858
|
|
NM_002495.4(NDUFS4):c.291del (p.Lys96_Trp97insTer)
|
rs121908985
|
|
NM_002667.5(PLN):c.37AGA[1] (p.Arg14del)
|
rs397516784
|
|
NM_002739.5(PRKCG):c.353G>A (p.Gly118Asp)
|
rs121918514
|
|
NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro)
|
rs121918470
|
|
NM_002860.4(ALDH18A1):c.809-1G>C
|
rs1202802893
|
|
NM_003000.3(SDHB):c.200+1G>A
|
rs2101541309
|
|
NM_003000.3(SDHB):c.490C>T (p.Gln164Ter)
|
rs1553177679
|
|
NM_003002.4(SDHD):c.284T>C (p.Leu95Pro)
|
rs80338846
|
|
NM_003042.4(SLC6A1):c.889G>A (p.Gly297Arg)
|
rs876657400
|
|
NM_003334.4(UBA1):c.122T>C (p.Met41Thr)
|
rs782416867
|
|
NM_003482.4(KMT2D):c.15256C>T (p.Arg5086Ter)
|
rs727503979
|
|
NM_003978.5(PSTPIP1):c.688G>A (p.Ala230Thr)
|
rs121908130
|
|
NM_003978.5(PSTPIP1):c.748G>A (p.Glu250Lys)
|
rs28939089
|
|
NM_004006.3(DMD):c.3940C>T (p.Arg1314Ter)
|
rs5030730
|
|
NM_004177.5(STX3):c.739C>T (p.Arg247Ter)
|
rs575668968
|
|
NM_004260.4(RECQL4):c.2547_2548del (p.Phe850fs)
|
rs778141083
|
|
NM_004415.4(DSP):c.2821C>T (p.Arg941Ter)
|
rs730880082
|
|
NM_004415.4(DSP):c.3054_3055del (p.Ser1018fs)
|
rs2113690064
|
|
NM_004415.4(DSP):c.3337C>T (p.Arg1113Ter)
|
rs746877365
|
|
NM_004415.4(DSP):c.4608_4612del (p.Arg1537fs)
|
rs796620239
|
|
NM_004646.4(NPHS1):c.3250dup (p.Val1084fs)
|
rs386833935
|
|
NM_004655.4(AXIN2):c.1966C>T (p.Arg656Ter)
|
rs121908568
|
|
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys)
|
rs397518423
|
|
NM_005159.5(ACTC1):c.811A>G (p.Met271Val)
|
rs2140429730
|
|
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val)
|
rs281875322
|
|
NM_005477.3(HCN4):c.1441T>C (p.Tyr481His)
|
rs1057519275
|
|
NM_005559.4(LAMA1):c.842G>A (p.Trp281Ter)
|
rs2144193240
|
|
NM_005559.4(LAMA1):c.8761C>T (p.Arg2921Ter)
|
rs1480105908
|
|
NM_005609.4(PYGM):c.1A>G (p.Met1Val)
|
rs267606993
|
|
NM_005857.5(ZMPSTE24):c.1085dup (p.Leu362fs)
|
rs137854889
|
|
NM_005912.3(MC4R):c.240C>A (p.Tyr80Ter)
|
rs895704914
|
|
NM_005912.3(MC4R):c.779C>A (p.Pro260Gln)
|
rs1435358988
|
|
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
|
|
|
NM_006516.4(SLC2A1):c.274C>T (p.Arg92Trp)
|
rs202060209
|
|
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter)
|
rs199469465
|
|
NM_006662.3(SRCAP):c.7330C>T (p.Arg2444Ter)
|
rs199469464
|
|
NM_006772.3(SYNGAP1):c.1735C>T (p.Arg579Ter)
|
rs121918316
|
|
NM_007126.5(VCP):c.464G>A (p.Arg155His)
|
rs121909329
|
|
NM_007126.5(VCP):c.475C>T (p.Arg159Cys)
|
rs387906789
|
|
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter)
|
rs200432447
|
|
NM_007194.4(CHEK2):c.597del (p.Phe199fs)
|
rs1250779080
|
|
NM_007194.4(CHEK2):c.78_79del (p.Gln27fs)
|
rs2146153237
|
|
NM_007294.4(BRCA1):c.1287dup (p.Asp430fs)
|
rs80357576
|
|
NM_007294.4(BRCA1):c.1292dup (p.Leu431fs)
|
rs80357528
|
|
NM_007294.4(BRCA1):c.1529C>G (p.Ser510Ter)
|
rs80357427
|
|
NM_007294.4(BRCA1):c.1961del (p.Lys654fs)
|
rs80357522
|
|
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly)
|
rs80357382
|
|
NM_007294.4(BRCA1):c.2197_2201del (p.Glu733fs)
|
rs80357507
|
|
NM_007294.4(BRCA1):c.4699G>T (p.Gly1567Ter)
|
rs568753972
|
|
NM_007294.4(BRCA1):c.66dup (p.Glu23fs)
|
rs80357783
|
|
NM_007315.4(STAT1):c.800C>T (p.Ala267Val)
|
rs387906759
|
|
NM_007315.4(STAT1):c.821G>A (p.Arg274Gln)
|
rs387906760
|
|
NM_014625.4(NPHS2):c.862G>A (p.Ala288Thr)
|
rs1490010141
|
|
NM_014946.4(SPAST):c.1378C>T (p.Arg460Cys)
|
rs878854990
|
|
NM_018486.3(HDAC8):c.738-1G>A
|
rs1602975601
|
|
NM_020297.4(ABCC9):c.3346C>T (p.Arg1116Cys)
|
rs387907228
|
|
NM_020297.4(ABCC9):c.3460C>T (p.Arg1154Trp)
|
rs387907208
|
|
NM_020297.4(ABCC9):c.3461G>A (p.Arg1154Gln)
|
rs387907209
|
|
NM_020751.3(COG6):c.1646G>T (p.Gly549Val)
|
rs387906959
|
|
NM_020822.3(KCNT1):c.862G>A (p.Gly288Ser)
|
rs587777264
|
|
NM_020975.6(RET):c.1832G>A (p.Cys611Tyr)
|
rs377767397
|
|
NM_020975.6(RET):c.1853G>C (p.Cys618Ser)
|
rs79781594
|
|
NM_020975.6(RET):c.1859G>T (p.Cys620Phe)
|
rs77503355
|
|
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr)
|
rs75996173
|
|
NM_020975.6(RET):c.2753T>C (p.Met918Thr)
|
rs74799832
|
|
NM_021008.4(DEAF1):c.670C>T (p.Arg224Trp)
|
rs587777408
|
|
NM_022336.4(EDAR):c.964-1G>C
|
rs2105390253
|
|
NM_024426.6(WT1):c.1399C>T (p.Arg467Trp)
|
rs121907900
|
|
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter)
|
rs768443448
|
|
NM_024649.5(BBS1):c.363C>A (p.Tyr121Ter)
|
rs1856010874
|
|
NM_024675.4(PALB2):c.3523C>T (p.Gln1175Ter)
|
rs1555457841
|
|
NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter)
|
rs118203998
|
|
NM_024757.5(EHMT1):c.2929C>T (p.Gln977Ter)
|
rs2137711618
|
|
NM_025074.7(FRAS1):c.11544del (p.Arg3849fs)
|
rs776789412
|
|
NM_025114.4(CEP290):c.3175dup (p.Ile1059fs)
|
rs62640570
|
|
NM_025114.4(CEP290):c.4960C>T (p.Gln1654Ter)
|
rs1226324483
|
|
NM_025216.3(WNT10A):c.831G>C (p.Trp277Cys)
|
rs1234227647
|
|
NM_031443.4(CCM2):c.236_237del (p.Tyr79fs)
|
rs2128747325
|
|
NM_032043.3(BRIP1):c.1236del (p.Val413fs)
|
rs863224525
|
|
NM_032043.3(BRIP1):c.2038_2039dup (p.Leu680fs)
|
rs587778134
|
|
NM_033028.5(BBS4):c.777_778del (p.Tyr259_Arg260delinsTer)
|
rs1459736027
|
|
NM_033380.3(COL4A5):c.1117C>T (p.Arg373Ter)
|
rs104886094
|
|
NM_033380.3(COL4A5):c.1525G>T (p.Gly509Cys)
|
rs754223700
|
|
NM_130797.4(DPP6):c.244-141059C>T
|
rs606231226
|
|
NM_138694.4(PKHD1):c.8302+2T>C
|
rs2151510946
|
|
NM_145207.3(AFG2A):c.1677C>A (p.Tyr559Ter)
|
rs139834687
|
|
NM_145207.3(AFG2A):c.983CAA[2] (p.Thr330del)
|
rs796052243
|
|
NM_145239.3(PRRT2):c.649C>T (p.Arg217Ter)
|
rs77838305
|
|
NM_145239.3(PRRT2):c.649del (p.Arg217fs)
|
rs587778771
|
|
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
|
|
|
NM_152384.3(BBS5):c.425T>G (p.Leu142Ter)
|
rs1574339529
|
|
NM_152564.5(VPS13B):c.2014-2A>G
|
rs1588095580
|
|
NM_170707.4(LMNA):c.1130G>T (p.Arg377Leu)
|
rs61672878
|
|
NM_170707.4(LMNA):c.1608+5G>C
|
rs267607539
|
|
NM_170707.4(LMNA):c.481G>A (p.Glu161Lys)
|
rs28933093
|
|
NM_170707.4(LMNA):c.777T>A (p.Tyr259Ter)
|
rs58048078
|
|
NM_172107.4(KCNQ2):c.365C>T (p.Ser122Leu)
|
rs118192194
|
|
NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp)
|
|
|
NM_172107.4(KCNQ2):c.587C>T (p.Ala196Val)
|
rs118192199
|
|
NM_172107.4(KCNQ2):c.602G>A (p.Arg201His)
|
rs1057516085
|
|
NM_172107.4(KCNQ2):c.901G>A (p.Gly301Ser)
|
rs1057516099
|
|
NM_172107.4(KCNQ2):c.917C>T (p.Ala306Val)
|
rs864321707
|
|
NM_172107.4(KCNQ2):c.997C>T (p.Arg333Trp)
|
rs118192215
|
|
NM_173689.7(CRB2):c.3089_3104dup (p.Gly1036fs)
|
rs879255251
|
|
NM_194454.3(KRIT1):c.1166del (p.Gly389fs)
|
rs2131511467
|
|
NM_194454.3(KRIT1):c.1287del (p.Ser430fs)
|
rs2131454847
|
|
NM_194454.3(KRIT1):c.1412-1G>C
|
rs1554513070
|
|
NM_194454.3(KRIT1):c.2043del (p.Lys682fs)
|
rs1563212150
|
|
NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr)
|
rs796052505
|
|
NM_213599.3(ANO5):c.191dup (p.Asn64fs)
|
rs137854521
|
|