NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu)
|
rs72553883
|
0.00518
|
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)
|
rs104895094
|
0.00506
|
NM_000065.5(C6):c.2381+2T>C
|
rs76202909
|
0.00242
|
NM_007055.4(POLR3A):c.1909+22G>A
|
rs191875469
|
0.00156
|
NM_000235.4(LIPA):c.894G>A (p.Gln298=)
|
rs116928232
|
0.00075
|
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter)
|
rs549794342
|
0.00061
|
NM_003384.3(VRK1):c.858G>T (p.Met286Ile)
|
rs139476915
|
0.00051
|
NM_176869.3(PPA2):c.683C>T (p.Pro228Leu)
|
rs138215926
|
0.00044
|
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu)
|
rs28939378
|
0.00036
|
NM_020207.7(ERCC6L2):c.1930C>T (p.Arg644Ter)
|
rs147948835
|
0.00022
|
NM_006019.4(TCIRG1):c.1674-1G>A
|
rs139617644
|
0.00019
|
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile)
|
rs104895081
|
0.00011
|
NM_000722.4(CACNA2D1):c.1648G>T (p.Asp550Tyr)
|
rs542692632
|
0.00011
|
NM_001267550.2(TTN):c.12587C>A (p.Ser4196Ter)
|
rs370912401
|
0.00010
|
NM_024407.5(NDUFS7):c.364G>A (p.Val122Met)
|
rs104894705
|
0.00009
|
NM_000335.5(SCN5A):c.4975A>G (p.Ile1659Val)
|
rs199473625
|
0.00007
|
NM_020774.4(MIB1):c.1588C>T (p.Arg530Ter)
|
rs201850378
|
0.00007
|
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg)
|
rs121907992
|
0.00006
|
NM_000256.3(MYBPC3):c.1224-80G>A
|
rs1025692267
|
0.00006
|
NM_003384.3(VRK1):c.701A>G (p.Asn234Ser)
|
rs369310409
|
0.00006
|
NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro)
|
rs104894205
|
0.00006
|
NM_003824.4(FADD):c.313T>C (p.Cys105Arg)
|
rs369869993
|
0.00006
|
NM_003982.4(SLC7A7):c.1417C>T (p.Arg473Ter)
|
rs386833808
|
0.00006
|
NM_020297.4(ABCC9):c.4512+711G>A
|
rs72559751
|
0.00006
|
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys)
|
rs730880555
|
0.00005
|
NM_000257.4(MYH7):c.1405G>A (p.Asp469Asn)
|
rs397516106
|
0.00004
|
NM_000363.5(TNNI3):c.422G>A (p.Arg141Gln)
|
rs397516347
|
0.00004
|
NM_000432.4(MYL2):c.403-1G>C
|
rs199474813
|
0.00004
|
NM_001126108.2(SLC12A3):c.1387G>A (p.Gly463Arg)
|
rs374163823
|
0.00004
|
NM_021942.6(TRAPPC11):c.1287+5G>A
|
rs397509418
|
0.00004
|
NM_170707.4(LMNA):c.1189C>T (p.Arg397Cys)
|
rs374726751
|
0.00004
|
NM_177550.5(SLC13A5):c.680C>T (p.Thr227Met)
|
rs587777577
|
0.00004
|
NM_000073.3(CD3G):c.205A>T (p.Lys69Ter)
|
rs199676861
|
0.00003
|
NM_002667.5(PLN):c.26G>A (p.Arg9His)
|
rs754782171
|
0.00003
|
NM_007375.4(TARDBP):c.1147A>G (p.Ile383Val)
|
rs80356740
|
0.00003
|
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)
|
rs727503054
|
0.00002
|
NM_000540.3(RYR1):c.3877C>A (p.Pro1293Thr)
|
rs146407179
|
0.00002
|
NM_017837.4(PIGV):c.494C>A (p.Ala165Glu)
|
rs376328153
|
0.00002
|
NM_000053.4(ATP7B):c.1847G>A (p.Arg616Gln)
|
rs752850609
|
0.00001
|
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile)
|
rs28897759
|
0.00001
|
NM_000243.3(MEFV):c.2296A>C (p.Asn766His)
|
rs148707371
|
0.00001
|
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met)
|
rs397516201
|
0.00001
|
NM_000257.4(MYH7):c.430G>A (p.Gly144Ser)
|
rs1036184671
|
0.00001
|
NM_000257.4(MYH7):c.727C>T (p.Arg243Cys)
|
rs397516265
|
0.00001
|
NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln)
|
rs765380155
|
0.00001
|
NM_000434.4(NEU1):c.679G>A (p.Gly227Arg)
|
rs769765227
|
0.00001
|
NM_000540.3(RYR1):c.2113G>A (p.Gly705Arg)
|
rs565825739
|
0.00001
|
NM_000719.7(CACNA1C):c.2579G>A (p.Arg860Gln)
|
rs730880056
|
0.00001
|
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter)
|
rs140743001
|
0.00001
|
NM_001267550.2(TTN):c.57378G>A (p.Trp19126Ter)
|
rs1192054216
|
0.00001
|
NM_001267550.2(TTN):c.9448C>T (p.Arg3150Ter)
|
rs146572907
|
0.00001
|
NM_001276345.2(TNNT2):c.277G>A (p.Glu93Lys)
|
rs727504244
|
0.00001
|
NM_001276345.2(TNNT2):c.890G>A (p.Trp297Ter)
|
rs727504247
|
0.00001
|
NM_001378454.1(ALMS1):c.5452C>T (p.Arg1818Ter)
|
rs749339938
|
0.00001
|
NM_001927.4(DES):c.1285C>T (p.Arg429Ter)
|
rs150974575
|
0.00001
|
NM_001943.5(DSG2):c.145C>T (p.Arg49Cys)
|
rs762526848
|
0.00001
|
NM_002354.3(EPCAM):c.307G>A (p.Gly103Arg)
|
rs1346393896
|
0.00001
|
NM_003384.3(VRK1):c.583T>G (p.Leu195Val)
|
rs779770049
|
0.00001
|
NM_003384.3(VRK1):c.607C>T (p.Arg203Trp)
|
rs144600646
|
0.00001
|
NM_007126.5(VCP):c.476G>A (p.Arg159His)
|
rs121909335
|
0.00001
|
NM_032305.3(POLR3GL):c.-41-1G>A
|
rs782661984
|
0.00001
|
NM_032305.3(POLR3GL):c.326-1G>A
|
rs1553763618
|
0.00001
|
NM_058179.4(PSAT1):c.299A>C (p.Asp100Ala)
|
rs118203967
|
0.00001
|
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp)
|
rs386134243
|
0.00001
|
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys)
|
rs56816490
|
0.00001
|
NM_000051.4(ATM):c.1803-2A>G
|
rs1057517358
|
|
NM_000059.4(BRCA2):c.-39-2A>G
|
rs1555280053
|
|
NM_000091.5(COL4A3):c.2881G>C (p.Gly961Arg)
|
rs1285576172
|
|
NM_000092.5(COL4A4):c.2174G>A (p.Gly725Asp)
|
rs2150277040
|
|
NM_000098.3(CPT2):c.577C>T (p.Arg193Cys)
|
rs375968699
|
|
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val)
|
rs794728195
|
|
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys)
|
rs1800312
|
|
NM_000166.6(GJB1):c.151T>C (p.Phe51Leu)
|
rs876661269
|
|
NM_000169.3(GLA):c.956T>C (p.Ile319Thr)
|
rs2147471929
|
|
NM_000218.3(KCNQ1):c.1174T>C (p.Trp392Arg)
|
rs199472774
|
|
NM_000238.4(KCNH2):c.260T>C (p.Leu87Pro)
|
rs199473495
|
|
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu)
|
rs104895083
|
|
NM_000256.3(MYBPC3):c.1696T>C (p.Cys566Arg)
|
rs730880695
|
|
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr)
|
rs397516088
|
|
NM_000257.4(MYH7):c.2783A>T (p.Asp928Val)
|
rs727504558
|
|
NM_000257.4(MYH7):c.4159G>A (p.Glu1387Lys)
|
rs730880792
|
|
NM_000257.4(MYH7):c.689T>C (p.Phe230Ser)
|
rs886038844
|
|
NM_000271.5(NPC1):c.1918G>A (p.Gly640Arg)
|
rs2058768195
|
|
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg)
|
rs80338708
|
|
NM_000335.5(SCN5A):c.2320del (p.Tyr774fs)
|
rs2125881165
|
|
NM_000335.5(SCN5A):c.5225G>A (p.Gly1742Glu)
|
rs199473629
|
|
NM_000540.3(RYR1):c.14731G>A (p.Glu4911Lys)
|
rs886044196
|
|
NM_001009944.3(PKD1):c.8932TTC[1] (p.Phe2979del)
|
rs1358948221
|
|
NM_001018005.2(TPM1):c.607A>G (p.Asn203Asp)
|
rs1555409523
|
|
NM_001032221.6(STXBP1):c.569G>A (p.Arg190Gln)
|
rs796053356
|
|
NM_001040142.2(SCN2A):c.2642T>C (p.Leu881Pro)
|
rs796053116
|
|
NM_001080421.3(UNC13A):c.2441C>T (p.Pro814Leu)
|
rs2076985517
|
|
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser)
|
rs398122394
|
|
NM_001111125.3(IQSEC2):c.2278G>A (p.Gly760Ser)
|
rs1556862958
|
|
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met)
|
rs794727411
|
|
NM_001134363.3(RBM20):c.1900C>T (p.Arg634Trp)
|
rs796734066
|
|
NM_001182.5(ALDH7A1):c.1483G>A (p.Ala495Thr)
|
rs1749930972
|
|
NM_001267550.2(TTN):c.100825C>T (p.Arg33609Ter)
|
rs1057518195
|
|
NM_001267550.2(TTN):c.2921del (p.Val974fs)
|
rs2154350102
|
|
NM_001267550.2(TTN):c.40603A>T (p.Lys13535Ter)
|
rs2154238618
|
|
NM_001267550.2(TTN):c.41329+1G>T
|
rs796238032
|
|
NM_001267550.2(TTN):c.42235C>T (p.Arg14079Ter)
|
rs745926057
|
|
NM_001267550.2(TTN):c.47352T>G (p.Tyr15784Ter)
|
rs2057661952
|
|
NM_001267550.2(TTN):c.5209G>T (p.Glu1737Ter)
|
rs2154346241
|
|
NM_001267550.2(TTN):c.52903C>T (p.Arg17635Ter)
|
rs2154197219
|
|
NM_001267550.2(TTN):c.57508G>T (p.Gly19170Ter)
|
rs750947988
|
|
NM_001267550.2(TTN):c.59926+1G>A
|
rs553526525
|
|
NM_001267550.2(TTN):c.62246del (p.Gly20749fs)
|
rs2154183801
|
|
NM_001267550.2(TTN):c.63625C>T (p.Arg21209Ter)
|
rs794729279
|
|
NM_001267550.2(TTN):c.63794-1G>A
|
rs2049262622
|
|
NM_001267550.2(TTN):c.64672+2T>C
|
rs2154180290
|
|
NM_001267550.2(TTN):c.64708del (p.Ser21570fs)
|
rs2048590205
|
|
NM_001267550.2(TTN):c.65042del (p.Asp21681fs)
|
rs2154179867
|
|
NM_001267550.2(TTN):c.67667del (p.Pro22556fs)
|
rs2154175408
|
|
NM_001267550.2(TTN):c.7855+1G>T
|
rs746566745
|
|
NM_001267550.2(TTN):c.91152T>A (p.Tyr30384Ter)
|
rs796635140
|
|
NM_001267550.2(TTN):c.92847C>G (p.Tyr30949Ter)
|
rs2154147680
|
|
NM_001276345.2(TNNT2):c.508GAG[3] (p.Glu173del)
|
rs397516470
|
|
NM_001323289.2(CDKL5):c.533G>A (p.Arg178Gln)
|
rs267606715
|
|
NM_001352027.3(PHF21A):c.1741C>T (p.Arg581Ter)
|
|
|
NM_001378454.1(ALMS1):c.10262del (p.Pro3421fs)
|
rs2104063769
|
|
NM_001458.5(FLNC):c.6864_6867dup (p.Val2290fs)
|
rs2128939508
|
|
NM_001927.4(DES):c.407T>C (p.Leu136Pro)
|
rs397516695
|
|
NM_001927.4(DES):c.816dup (p.Ala273fs)
|
rs2125167896
|
|
NM_002180.3(IGHMBP2):c.904C>T (p.Gln302Ter)
|
rs557416644
|
|
NM_002448.3(MSX1):c.469+5G>C
|
rs2108777804
|
|
NM_002448.3(MSX1):c.605G>A (p.Arg202His)
|
rs121913129
|
|
NM_002834.5(PTPN11):c.179G>C (p.Gly60Ala)
|
rs397507509
|
|
NM_003000.3(SDHB):c.653G>C (p.Trp218Ser)
|
rs1553177290
|
|
NM_003060.4(SLC22A5):c.825-1G>C
|
rs1057516805
|
|
NM_003242.6(TGFBR2):c.1114A>G (p.Lys372Glu)
|
rs2125436283
|
|
NM_003384.3(VRK1):c.197C>G (p.Ala66Gly)
|
rs1887280587
|
|
NM_003491.4(NAA10):c.346C>T (p.Arg116Trp)
|
|
|
NM_004360.5(CDH1):c.1320+1G>T
|
rs886039685
|
|
NM_005214.5(CTLA4):c.231_297delinsA (p.Gln80_Ser101del)
|
|
|
NM_006236.3(POU3F3):c.617_632delinsCCC (p.Leu206fs)
|
|
|
NM_007289.4(MME):c.467del (p.Pro156fs)
|
rs749320057
|
|
NM_007294.4(BRCA1):c.53T>C (p.Met18Thr)
|
rs80356929
|
|
NM_007327.4(GRIN1):c.1976G>A (p.Arg659Gln)
|
rs2131299400
|
|
NM_007375.4(TARDBP):c.1055A>G (p.Asn352Ser)
|
rs80356734
|
|
NM_014270.5(SLC7A9):c.120G>A (p.Val40=)
|
rs140179068
|
|
NM_017534.6(MYH2):c.2615C>G (p.Ser872Ter)
|
rs2142303290
|
|
NM_017849.4(TMEM127):c.410-2A>G
|
rs121908826
|
|
NM_020822.3(KCNT1):c.1420C>T (p.Arg474Cys)
|
rs866242631
|
|
NM_024422.6(DSC2):c.2125+1del
|
rs794728072
|
|
NM_144573.4(NEXN):c.1909_1912del (p.Tyr637fs)
|
rs775629965
|
|
NM_145207.3(AFG2A):c.1883A>G (p.Asp628Gly)
|
rs768528444
|
|
NM_145207.3(AFG2A):c.1A>C (p.Met1Leu)
|
rs552219028
|
|
NM_145207.3(AFG2A):c.983CAA[2] (p.Thr330del)
|
rs796052243
|
|
NM_170707.4(LMNA):c.1146C>T (p.Gly382=)
|
rs57508089
|
|
NM_170707.4(LMNA):c.308A>G (p.Gln103Arg)
|
rs2102818914
|
|
NM_172107.4(KCNQ2):c.1657C>T (p.Arg553Trp)
|
rs759584387
|
|
NM_182922.4(HEATR3):c.1751G>A (p.Gly584Glu)
|
rs917466219
|
|