NM_001364905.1(LRBA):c.5030A>G (p.Asn1677Ser)
|
rs17027133
|
0.00349
|
NM_001364905.1(LRBA):c.1399A>G (p.Met467Val)
|
rs116355217
|
0.00225
|
NM_203447.4(DOCK8):c.3460C>T (p.Arg1154Cys)
|
rs34390308
|
0.00170
|
NM_153485.3(NUP155):c.1204G>A (p.Val402Met)
|
rs148814027
|
0.00044
|
NM_000275.3(OCA2):c.2020C>G (p.Leu674Val)
|
rs371412500
|
0.00032
|
NM_003331.5(TYK2):c.648G>A (p.Pro216=)
|
rs142642403
|
0.00030
|
NM_004744.5(LRAT):c.*98C>T
|
rs529360609
|
0.00010
|
NM_001379500.1(COL18A1):c.1825G>A (p.Ala609Thr)
|
rs552119369
|
0.00009
|
NM_000352.6(ABCC8):c.4325A>T (p.Glu1442Val)
|
rs562680077
|
0.00008
|
NM_002861.5(PCYT2):c.1009G>A (p.Gly337Ser)
|
rs578101513
|
0.00008
|
NM_006984.5(CLDN10):c.431C>T (p.Thr144Met)
|
rs374187735
|
0.00006
|
NM_006946.4(SPTBN2):c.1895C>T (p.Ala632Val)
|
rs757932120
|
0.00005
|
NM_000183.3(HADHB):c.110-2324G>C
|
rs764471823
|
0.00004
|
NM_000256.3(MYBPC3):c.2939G>A (p.Arg980His)
|
rs727503179
|
0.00004
|
NM_001365999.1(SZT2):c.9629G>A (p.Arg3210His)
|
rs371193436
|
0.00004
|
NM_000213.5(ITGB4):c.4664G>A (p.Arg1555Gln)
|
rs766336707
|
0.00002
|
NM_002381.5(MATN3):c.284G>A (p.Arg95Gln)
|
rs755692495
|
0.00002
|
NM_004758.4(TSPOAP1):c.1325G>A (p.Arg442Gln)
|
rs756869149
|
0.00002
|
NM_006218.4(PIK3CA):c.2309G>A (p.Arg770Gln)
|
rs749840319
|
0.00002
|
NM_007078.3(LDB3):c.1703G>A (p.Arg568His)
|
rs769156627
|
0.00002
|
NM_024577.4(SH3TC2):c.1942C>T (p.Arg648Trp)
|
rs537049075
|
0.00002
|
NM_000094.4(COL7A1):c.8234G>A (p.Arg2745Gln)
|
rs377182638
|
0.00001
|
NM_000098.3(CPT2):c.1766C>T (p.Thr589Met)
|
rs756414686
|
0.00001
|
NM_000157.4(GBA1):c.1316G>A (p.Ser439Asn)
|
rs1571966221
|
0.00001
|
NM_000284.4(PDHA1):c.522C>T (p.Gly174=)
|
rs769308417
|
0.00001
|
NM_000492.4(CFTR):c.3925C>G (p.Gln1309Glu)
|
rs193922732
|
0.00001
|
NM_000876.4(IGF2R):c.5691C>T (p.Thr1897=)
|
rs139019277
|
0.00001
|
NM_001035.3(RYR2):c.3151C>T (p.Arg1051Cys)
|
rs533330664
|
0.00001
|
NM_001127255.2(NLRP7):c.2402T>C (p.Leu801Pro)
|
rs2068817265
|
0.00001
|
NM_001256545.2(MEGF10):c.*3847G>T
|
rs539314216
|
0.00001
|
NM_001278064.2(GRM1):c.3405C>G (p.Ser1135Arg)
|
rs1188689970
|
0.00001
|
NM_001330360.2(POLA1):c.1193G>A (p.Arg398His)
|
rs915033662
|
0.00001
|
NM_001367561.1(DOCK7):c.3541C>T (p.Arg1181Cys)
|
rs202054691
|
0.00001
|
NM_003331.5(TYK2):c.1694G>A (p.Arg565Gln)
|
rs764267766
|
0.00001
|
NM_004360.5(CDH1):c.2602C>A (p.Arg868Ser)
|
rs864622630
|
0.00001
|
NM_004446.3(EPRS1):c.3148C>T (p.Arg1050Cys)
|
rs577103810
|
0.00001
|
NM_005548.3(KARS1):c.1493C>T (p.Ala498Val)
|
rs1415687857
|
0.00001
|
NM_005570.4(LMAN1):c.1178T>C (p.Val393Ala)
|
rs374176132
|
0.00001
|
NM_005921.2(MAP3K1):c.770C>T (p.Pro257Leu)
|
rs56160159
|
0.00001
|
NM_012434.5(SLC17A5):c.574C>T (p.Pro192Ser)
|
rs149233119
|
0.00001
|
NM_014855.3(AP5Z1):c.2399G>A (p.Arg800Lys)
|
rs754594403
|
0.00001
|
NM_014855.3(AP5Z1):c.869G>A (p.Arg290Gln)
|
rs778734781
|
0.00001
|
NM_015690.5(STK36):c.3643G>A (p.Ala1215Thr)
|
rs537610210
|
0.00001
|
NM_020987.5(ANK3):c.13024A>C (p.Ser4342Arg)
|
rs775338026
|
0.00001
|
NM_138694.4(PKHD1):c.10129G>A (p.Glu3377Lys)
|
rs754382673
|
0.00001
|
NM_172107.4(KCNQ2):c.1291G>A (p.Gly431Arg)
|
rs746853951
|
0.00001
|
NM_173653.4(SLC9A9):c.1268G>A (p.Arg423Gln)
|
rs368254745
|
0.00001
|
NC_012920.1(MT-CYB):m.15192T>G
|
|
|
NC_012920.1(MT-ND5):m.13345G>A
|
|
|
NM_000037.4(ANK1):c.3598T>C (p.Cys1200Arg)
|
|
|
NM_000070.3(CAPN3):c.642T>G (p.Gly214=)
|
rs2141167656
|
|
NM_000079.4(CHRNA1):c.191A>C (p.Asp64Ala)
|
|
|
NM_000080.4(CHRNE):c.353G>A (p.Gly118Asp)
|
rs1555546986
|
|
NM_000142.5(FGFR3):c.445+2_445+5del
|
rs756854039
|
|
NM_000163.5(GHR):c.309T>A (p.Asp103Glu)
|
|
|
NM_000256.3(MYBPC3):c.1919C>A (p.Pro640His)
|
|
|
NM_000257.4(MYH7):c.4681G>T (p.Ala1561Ser)
|
|
|
NM_000257.4(MYH7):c.5173_5175del (p.Asn1725del)
|
|
|
NM_000298.6(PKLR):c.657_677del (p.Asp220_Leu226del)
|
|
|
NM_000368.5(TSC1):c.814G>A (p.Glu272Lys)
|
rs397514872
|
|
NM_000382.3(ALDH3A2):c.993A>C (p.Glu331Asp)
|
|
|
NM_000396.4(CTSK):c.637_639del (p.Asn213del)
|
|
|
NM_000414.4(HSD17B4):c.1016A>G (p.Tyr339Cys)
|
rs2126780758
|
|
NM_000414.4(HSD17B4):c.835T>G (p.Phe279Val)
|
rs1162207835
|
|
NM_000447.3(PSEN2):c.250G>A (p.Gly84Arg)
|
|
|
NM_000458.4(HNF1B):c.1436A>G (p.His479Arg)
|
|
|
NM_000478.6(ALPL):c.1468A>C (p.Ile490Leu)
|
|
|
NM_000523.4(HOXD13):c.937A>C (p.Thr313Pro)
|
rs1301927745
|
|
NM_000530.8(MPZ):c.265_270del (p.Ile89_Asp90del)
|
|
|
NM_000540.3(RYR1):c.10868T>G (p.Leu3623Arg)
|
|
|
NM_000601.6(HGF):c.1810T>C (p.Cys604Arg)
|
|
|
NM_000651.6(CR1):c.6283C>A (p.His2095Asn)
|
rs1571590802
|
|
NM_000748.3(CHRNB2):c.416A>C (p.Tyr139Ser)
|
rs1466236236
|
|
NM_000785.4(CYP27B1):c.781T>G (p.Phe261Val)
|
|
|
NM_000829.4(GRIA4):c.221C>T (p.Ala74Val)
|
|
|
NM_000876.4(IGF2R):c.50G>C (p.Arg17Pro)
|
rs2115160662
|
|
NM_001005361.3(DNM2):c.1810G>A (p.Glu604Lys)
|
rs951875086
|
|
NM_001031689.3(PLAA):c.215G>A (p.Cys72Tyr)
|
|
|
NM_001035.3(RYR2):c.6484A>C (p.Met2162Leu)
|
rs1680242037
|
|
NM_001035.3(RYR2):c.6517G>A (p.Glu2173Lys)
|
|
|
NM_001042545.2(LTBP4):c.2399G>A (p.Arg800Gln)
|
|
|
NM_001080508.3(TBX18):c.1285C>T (p.Arg429Ter)
|
rs886041719
|
|
NM_001099922.3(ALG13):c.314T>C (p.Met105Thr)
|
|
|
NM_001122659.3(EDNRB):c.1228G>C (p.Glu410Gln)
|
rs1878741475
|
|
NM_001122659.3(EDNRB):c.830T>G (p.Leu277Arg)
|
rs1878958050
|
|
NM_001127222.2(CACNA1A):c.1924G>A (p.Asp642Asn)
|
rs2057938033
|
|
NM_001127222.2(CACNA1A):c.7087C>T (p.Arg2363Cys)
|
|
|
NM_001127644.2(GABRA1):c.1350A>T (p.Lys450Asn)
|
rs142385746
|
|
NM_001128831.4(CA1):c.368_369del (p.His123fs)
|
rs768769200
|
|
NM_001139.3(ALOX12B):c.1235C>A (p.Ala412Asp)
|
|
|
NM_001142556.2(HMMR):c.769C>T (p.Gln257Ter)
|
|
|
NM_001164508.2(NEB):c.22639A>G (p.Met7547Val)
|
|
|
NM_001165963.4(SCN1A):c.242A>G (p.Asp81Gly)
|
rs1684663181
|
|
NM_001267550.2(TTN):c.46945T>G (p.Phe15649Val)
|
|
|
NM_001267550.2(TTN):c.99412G>C (p.Gly33138Arg)
|
|
|
NM_001276345.2(TNNT2):c.626G>A (p.Gly209Glu)
|
|
|
NM_001281740.3(FHOD3):c.2077C>T (p.Arg693Trp)
|
|
|
NM_001281740.3(FHOD3):c.4304G>A (p.Cys1435Tyr)
|
|
|
NM_001290043.2(TAP2):c.629G>A (p.Arg210Gln)
|
|
|
NM_001297.5(CNGB1):c.2885T>G (p.Leu962Arg)
|
|
|
NM_001326342.2(CELF2):c.746G>T (p.Gly249Val)
|
|
|
NM_001361.5(DHODH):c.616G>A (p.Asp206Asn)
|
|
|
NM_001365951.3(KIF1B):c.2137G>A (p.Ala713Thr)
|
|
|
NM_001365999.1(SZT2):c.5797C>T (p.His1933Tyr)
|
rs2153934308
|
|
NM_001367561.1(DOCK7):c.5425C>T (p.Arg1809Trp)
|
rs1646379326
|
|
NM_001371727.1(GABRB2):c.173C>T (p.Pro58Leu)
|
|
|
NM_001374385.1(ATP8B1):c.2282T>A (p.Ile761Asn)
|
rs1599090593
|
|
NM_001374385.1(ATP8B1):c.2663C>T (p.Thr888Met)
|
rs540027832
|
|
NM_001375524.1(TRRAP):c.8324G>A (p.Arg2775Gln)
|
|
|
NM_001376571.1(MADD):c.3704G>A (p.Arg1235Gln)
|
|
|
NM_001378452.1(ITPR1):c.1813C>G (p.Leu605Val)
|
|
|
NM_001384.5(DPH2):c.260G>T (p.Ser87Ile)
|
rs1571781453
|
|
NM_001384910.1(GUCA1A):c.184A>C (p.Thr62Pro)
|
|
|
NM_001394998.1(TANC2):c.4547G>A (p.Arg1516Gln)
|
|
|
NM_001457.4(FLNB):c.4589A>G (p.Tyr1530Cys)
|
rs776043627
|
|
NM_001690.4(ATP6V1A):c.31G>T (p.Asp11Tyr)
|
|
|
NM_001927.4(DES):c.906C>T (p.Asp302=)
|
|
|
NM_001939.3(DRP2):c.2159G>A (p.Arg720Gln)
|
|
|
NM_002181.4(IHH):c.217C>T (p.Arg73Cys)
|
rs2106310521
|
|
NM_002335.4(LRP5):c.1618C>T (p.Leu540Phe)
|
rs1591284438
|
|
NM_002354.3(EPCAM):c.79T>G (p.Cys27Gly)
|
|
|
NM_002471.4(MYH6):c.5286G>A (p.Thr1762=)
|
|
|
NM_002491.3(NDUFB3):c.136G>A (p.Gly46Ser)
|
rs1575544444
|
|
NM_002693.3(POLG):c.1403A>T (p.Asn468Ile)
|
|
|
NM_002861.5(PCYT2):c.555C>A (p.Asn185Lys)
|
rs569322551
|
|
NM_003361.4(UMOD):c.176A>G (p.Asp59Gly)
|
|
|
NM_003722.5(TP63):c.1460G>A (p.Arg487His)
|
|
|
NM_003900.5(SQSTM1):c.1159C>G (p.Pro387Ala)
|
|
|
NM_003931.3(WASF1):c.715C>T (p.Pro239Ser)
|
rs2114451272
|
|
NM_004183.4(BEST1):c.854T>A (p.Val285Asp)
|
rs376577490
|
|
NM_004187.5(KDM5C):c.2785C>G (p.Arg929Gly)
|
|
|
NM_004341.5(CAD):c.6020T>C (p.Leu2007Pro)
|
rs1676344855
|
|
NM_004360.5(CDH1):c.466T>G (p.Trp156Gly)
|
|
|
NM_004380.3(CREBBP):c.5462A>G (p.Gln1821Arg)
|
rs1448187215
|
|
NM_004446.3(EPRS1):c.3344C>T (p.Pro1115Leu)
|
rs1288116010
|
|
NM_004621.6(TRPC6):c.128G>T (p.Cys43Phe)
|
rs2136909652
|
|
NM_005121.3(MED13):c.4174C>A (p.Leu1392Ile)
|
rs2080074570
|
|
NM_005157.6(ABL1):c.1506C>G (p.Ile502Met)
|
|
|
NM_005198.5(CHKB):c.785T>G (p.Leu262Arg)
|
rs2146653235
|
|
NM_005334.3(HCFC1):c.1790C>T (p.Ser597Phe)
|
|
|
NM_005422.4(TECTA):c.1690C>T (p.Leu564Phe)
|
rs2135078204
|
|
NM_005458.8(GABBR2):c.2737A>G (p.Ser913Gly)
|
rs1830289381
|
|
NM_005476.7(GNE):c.1609T>C (p.Phe537Leu)
|
|
|
NM_005476.7(GNE):c.27G>C (p.Lys9Asn)
|
|
|
NM_005476.7(GNE):c.469C>A (p.His157Asn)
|
rs1587339749
|
|
NM_005548.3(KARS1):c.421A>C (p.Lys141Gln)
|
rs761347066
|
|
NM_005996.4(TBX3):c.1534T>A (p.Ser512Thr)
|
|
|
NM_006009.4(TUBA1A):c.541G>A (p.Val181Ile)
|
|
|
NM_006087.4(TUBB4A):c.362G>A (p.Arg121Gln)
|
rs1472127260
|
|
NM_006343.3(MERTK):c.2173G>C (p.Ala725Pro)
|
|
|
NM_006576.4(AVIL):c.1204A>G (p.Ile402Val)
|
rs2140450849
|
|
NM_006576.4(AVIL):c.431A>T (p.Asn144Ile)
|
rs2140456079
|
|
NM_006912.6(RIT1):c.292A>T (p.Ile98Phe)
|
|
|
NM_007078.3(LDB3):c.1622G>A (p.Arg541Gln)
|
|
|
NM_012064.4(MIP):c.513del (p.His172fs)
|
rs1868688386
|
|
NM_014000.3(VCL):c.133G>C (p.Ala45Pro)
|
|
|
NM_014191.4(SCN8A):c.697G>T (p.Val233Leu)
|
rs1592380699
|
|
NM_014629.4(ARHGEF10):c.1081A>T (p.Arg361Ter)
|
rs774853645
|
|
NM_014698.3(TMEM63A):c.1049C>A (p.Ala350Asp)
|
|
|
NM_014874.4(MFN2):c.2229T>G (p.Ser743Arg)
|
rs1569890121
|
|
NM_015001.3(SPEN):c.3613C>T (p.Arg1205Cys)
|
|
|
NM_015338.6(ASXL1):c.1928G>C (p.Gly643Ala)
|
rs201649676
|
|
NM_015488.5(PNKD):c.490A>G (p.Thr164Ala)
|
rs2106294008
|
|
NM_015690.5(STK36):c.1232A>T (p.Asn411Ile)
|
rs2106349072
|
|
NM_015836.4(WARS2):c.882C>A (p.Ser294Arg)
|
|
|
NM_015978.3(TNNI3K):c.1921C>T (p.Arg641Trp)
|
|
|
NM_016239.4(MYO15A):c.9369C>A (p.Asp3123Glu)
|
|
|
NM_016343.4(CENPF):c.3424A>G (p.Met1142Val)
|
rs778072776
|
|
NM_016955.4(SEPSECS):c.467G>A (p.Arg156Gln)
|
rs776438003
|
|
NM_017534.6(MYH2):c.4204C>T (p.Arg1402Trp)
|
|
|
NM_017654.4(SAMD9):c.1253A>G (p.Asn418Ser)
|
|
|
NM_017654.4(SAMD9):c.843G>C (p.Lys281Asn)
|
rs1791615248
|
|
NM_017947.4(MOCOS):c.633C>A (p.Tyr211Ter)
|
rs2091405838
|
|
NM_018896.5(CACNA1G):c.2614C>A (p.Leu872Ile)
|
|
|
NM_018896.5(CACNA1G):c.2885T>C (p.Ile962Thr)
|
rs2145513175
|
|
NM_018896.5(CACNA1G):c.3182C>G (p.Ala1061Gly)
|
rs781015006
|
|
NM_020461.4(TUBGCP6):c.4994A>G (p.Gln1665Arg)
|
|
|
NM_021614.4(KCNN2):c.1193T>C (p.Ile398Thr)
|
|
|
NM_021614.4(KCNN2):c.428_439dup (p.Gln146_Ser147insTyrAlaGlnGln)
|
|
|
NM_021628.3(ALOXE3):c.75_76insGAC (p.Thr25_Leu26insAsp)
|
rs2151848449
|
|
NM_021830.5(TWNK):c.793C>T (p.Arg265Cys)
|
rs764669712
|
|
NM_022089.4(ATP13A2):c.514C>T (p.Arg172Cys)
|
|
|
NM_022168.4(IFIH1):c.2200C>T (p.Leu734Phe)
|
|
|
NM_024063.3(AFG2B):c.1526G>T (p.Cys509Phe)
|
|
|
NM_024301.5(FKRP):c.1130A>G (p.Gln377Arg)
|
rs2122631661
|
|
NM_024301.5(FKRP):c.587G>A (p.Gly196Glu)
|
|
|
NM_024301.5(FKRP):c.646C>T (p.Arg216Trp)
|
rs2054912295
|
|
NM_024574.4(NDNF):c.44_45delinsCT (p.Leu15Pro)
|
|
|
NM_024577.4(SH3TC2):c.289G>A (p.Ala97Thr)
|
rs562689036
|
|
NM_024996.7(GFM1):c.1897G>C (p.Ala633Pro)
|
|
|
NM_024996.7(GFM1):c.749G>A (p.Arg250Gln)
|
rs752251570
|
|
NM_025114.4(CEP290):c.104T>G (p.Val35Gly)
|
|
|
NM_030650.3(LNPK):c.896C>T (p.Ala299Val)
|
rs759257720
|
|
NM_032119.4(ADGRV1):c.11585A>G (p.Asp3862Gly)
|
rs2149981215
|
|
NM_032237.5(POMK):c.268G>A (p.Gly90Arg)
|
rs2130601657
|
|
NM_032634.4(PIGO):c.449G>T (p.Gly150Val)
|
rs1587176408
|
|
NM_032656.4(DHX37):c.499_500inv (p.Glu167Ser)
|
|
|
NM_032756.4(HPDL):c.119A>C (p.Asp40Ala)
|
|
|
NM_080605.4(B3GALT6):c.749C>T (p.Ala250Val)
|
rs2100994545
|
|
NM_133443.4(GPT2):c.487G>A (p.Val163Met)
|
rs1452698180
|
|
NM_138694.4(PKHD1):c.6101A>T (p.Asn2034Ile)
|
|
|
NM_138694.4(PKHD1):c.9974_9976del (p.Phe3325del)
|
|
|
NM_138773.4(SLC25A46):c.670A>G (p.Thr224Ala)
|
|
|
NM_139058.3(ARX):c.433G>T (p.Ala145Ser)
|
rs1438576250
|
|
NM_144997.7(FLCN):c.1160C>A (p.Ala387Asp)
|
rs1431737113
|
|
NM_145199.3(LIPT1):c.578T>C (p.Leu193Pro)
|
|
|
NM_152296.5(ATP1A3):c.2749G>C (p.Val917Leu)
|
|
|
NM_170606.3(KMT2C):c.2961C>G (p.Tyr987Ter)
|
rs58528565
|
|
NM_170707.4(LMNA):c.62T>C (p.Leu21Pro)
|
rs1649704361
|
|
NM_170784.3(MKKS):c.1490G>A (p.Cys497Tyr)
|
rs2122219712
|
|
NM_173076.3(ABCA12):c.7104+5G>A
|
|
|
NM_201525.4(ADGRG1):c.64+5G>T
|
|
|
NM_203447.4(DOCK8):c.3002T>C (p.Met1001Thr)
|
rs2054481229
|
|
NR_003051.4(RMRP):n.223G>T
|
|
|