NM_000243.3(MEFV):c.442G>C (p.Glu148Gln)
|
rs3743930
|
0.02112
|
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val)
|
rs142787001
|
0.00284
|
NM_000379.4(XDH):c.3536T>C (p.Ile1179Thr)
|
rs139515054
|
0.00222
|
NM_000243.3(MEFV):c.329T>C (p.Leu110Pro)
|
rs11466018
|
0.00217
|
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe)
|
rs1800111
|
0.00208
|
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His)
|
rs80359890
|
0.00205
|
NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val)
|
rs180922748
|
0.00174
|
NM_005548.3(KARS1):c.1178G>A (p.Arg393Gln)
|
rs149772470
|
0.00160
|
NM_003665.4(FCN3):c.232+1G>A
|
rs141300199
|
0.00153
|
NM_000243.3(MEFV):c.124C>T (p.Arg42Trp)
|
rs61754767
|
0.00121
|
NM_000532.5(PCCB):c.338G>A (p.Arg113Gln)
|
rs138246328
|
0.00116
|
NM_004646.4(NPHS1):c.658T>G (p.Ser220Ala)
|
rs115333628
|
0.00116
|
NM_025216.3(WNT10A):c.511C>T (p.Arg171Cys)
|
rs116998555
|
0.00113
|
NM_015102.5(NPHP4):c.271T>C (p.Phe91Leu)
|
rs201065230
|
0.00109
|
NM_020631.6(PLEKHG5):c.994C>T (p.Arg332Trp)
|
rs140202670
|
0.00108
|
NM_001379081.2(FREM1):c.1493G>A (p.Arg498Gln)
|
rs184394424
|
0.00107
|
NM_025137.4(SPG11):c.5121G>T (p.Glu1707Asp)
|
rs145643238
|
0.00103
|
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg)
|
rs191312027
|
0.00101
|
NM_207361.6(FREM2):c.5417G>A (p.Gly1806Asp)
|
rs145208009
|
0.00101
|
NM_000726.5(CACNB4):c.311G>T (p.Cys104Phe)
|
rs1805031
|
0.00074
|
NM_031471.6(FERMT3):c.332G>A (p.Arg111His)
|
rs145419469
|
0.00068
|
NM_001370298.3(FGD4):c.167-29728T>C
|
rs561223009
|
0.00065
|
NM_025074.7(FRAS1):c.9827T>C (p.Val3276Ala)
|
rs78006948
|
0.00064
|
NM_032578.4(MYPN):c.1130G>A (p.Arg377Gln)
|
rs147596628
|
0.00058
|
NM_005245.4(FAT1):c.4516C>T (p.Arg1506Cys)
|
rs199516712
|
0.00051
|
NM_021871.4(FGA):c.1417G>A (p.Asp473Asn)
|
rs200378626
|
0.00048
|
NM_000053.4(ATP7B):c.2544C>T (p.Gly848=)
|
rs200996053
|
0.00045
|
NM_001083116.3(PRF1):c.368G>A (p.Arg123His)
|
rs139336186
|
0.00044
|
NM_004715.5(CTDP1):c.668C>T (p.Thr223Met)
|
rs149796311
|
0.00043
|
NM_001005242.3(PKP2):c.184C>A (p.Gln62Lys)
|
rs199601548
|
0.00041
|
NM_002471.4(MYH6):c.4193G>A (p.Arg1398Gln)
|
rs150815925
|
0.00041
|
NM_017617.5(NOTCH1):c.1981G>A (p.Gly661Ser)
|
rs201077220
|
0.00034
|
NM_032578.4(MYPN):c.3124C>T (p.Arg1042Cys)
|
rs151282801
|
0.00034
|
NM_170665.4(ATP2A2):c.3064A>G (p.Ile1022Val)
|
rs140234740
|
0.00033
|
NM_015570.4(AUTS2):c.581C>T (p.Ser194Phe)
|
rs150765660
|
0.00031
|
NM_207361.6(FREM2):c.2432G>A (p.Gly811Glu)
|
rs147293913
|
0.00031
|
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu)
|
rs12720452
|
0.00030
|
NM_001164508.2(NEB):c.20098C>A (p.Leu6700Ile)
|
rs202139330
|
0.00029
|
NM_001243133.2(NLRP3):c.937A>G (p.Ile313Val)
|
rs180177501
|
0.00025
|
NM_170707.4(LMNA):c.1634G>A (p.Arg545His)
|
rs142191737
|
0.00025
|
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala)
|
rs28903098
|
0.00024
|
NM_000487.6(ARSA):c.982G>A (p.Val328Met)
|
rs143994992
|
0.00022
|
NM_053025.4(MYLK):c.5477C>T (p.Ala1826Val)
|
rs147187907
|
0.00022
|
NM_000138.5(FBN1):c.1027G>A (p.Gly343Arg)
|
rs146726731
|
0.00021
|
NM_001267550.2(TTN):c.55306G>A (p.Glu18436Lys)
|
rs201510986
|
0.00021
|
NM_001370466.1(NOD2):c.1036C>T (p.Arg346Cys)
|
rs145293873
|
0.00021
|
NM_002474.3(MYH11):c.217A>C (p.Lys73Gln)
|
rs147447269
|
0.00021
|
NM_006846.4(SPINK5):c.2419T>G (p.Cys807Gly)
|
rs201815688
|
0.00021
|
NM_001267550.2(TTN):c.80555G>A (p.Arg26852His)
|
rs202149931
|
0.00020
|
NM_144997.7(FLCN):c.396+4A>G
|
rs370353839
|
0.00020
|
NM_000256.3(MYBPC3):c.2684G>A (p.Arg895His)
|
rs372628478
|
0.00019
|
NM_001267550.2(TTN):c.52826A>T (p.Gln17609Leu)
|
rs368820294
|
0.00019
|
NM_001458.5(FLNC):c.1924G>A (p.Val642Ile)
|
rs369387744
|
0.00019
|
NM_003239.5(TGFB3):c.412T>G (p.Ser138Ala)
|
rs201453600
|
0.00018
|
NM_015141.4(GPD1L):c.247G>A (p.Glu83Lys)
|
rs72552292
|
0.00018
|
NM_032119.4(ADGRV1):c.13382A>G (p.His4461Arg)
|
rs182698253
|
0.00017
|
NM_000243.3(MEFV):c.1016C>T (p.Ser339Phe)
|
rs104895157
|
0.00016
|
NM_000337.6(SGCD):c.92G>A (p.Arg31Gln)
|
rs200476861
|
0.00016
|
NM_001040151.2(SCN3B):c.583G>A (p.Ala195Thr)
|
rs375755770
|
0.00016
|
NM_001134363.3(RBM20):c.1455A>G (p.Ser485=)
|
rs751559376
|
0.00016
|
NM_001458.5(FLNC):c.1166G>A (p.Gly389Asp)
|
rs763039506
|
0.00016
|
NM_001458.5(FLNC):c.4763C>G (p.Ala1588Gly)
|
rs148545460
|
0.00016
|
NM_001943.5(DSG2):c.1912G>A (p.Gly638Arg)
|
rs201564919
|
0.00016
|
NM_002471.4(MYH6):c.5293G>A (p.Ala1765Thr)
|
rs397516775
|
0.00016
|
NM_003172.4(SURF1):c.745A>G (p.Asn249Asp)
|
rs587669420
|
0.00016
|
NM_000218.3(KCNQ1):c.217C>A (p.Pro73Thr)
|
rs199472676
|
0.00015
|
NM_002294.3(LAMP2):c.73C>T (p.Arg25Trp)
|
rs730880478
|
0.00015
|
NM_002474.3(MYH11):c.3766A>C (p.Lys1256Gln)
|
rs149241435
|
0.00015
|
NM_000540.3(RYR1):c.641C>T (p.Thr214Met)
|
rs727504129
|
0.00014
|
NM_001035.3(RYR2):c.3152G>A (p.Arg1051His)
|
rs79457258
|
0.00014
|
NM_022114.4(PRDM16):c.3406G>A (p.Gly1136Arg)
|
rs775245244
|
0.00014
|
NM_000431.4(MVK):c.877G>A (p.Val293Met)
|
rs104895356
|
0.00013
|
NM_001379081.2(FREM1):c.3971T>G (p.Leu1324Arg)
|
rs281875281
|
0.00013
|
NM_024577.4(SH3TC2):c.2582G>A (p.Arg861Gln)
|
rs142971473
|
0.00013
|
NM_001458.5(FLNC):c.1568T>C (p.Val523Ala)
|
rs182845462
|
0.00012
|
NM_013266.4(CTNNA3):c.832G>A (p.Asp278Asn)
|
rs143693772
|
0.00012
|
NM_014846.4(WASHC5):c.1217A>G (p.Asn406Ser)
|
rs200456170
|
0.00012
|
NM_145046.5(CALR3):c.403G>A (p.Asp135Asn)
|
rs143932873
|
0.00012
|
NM_145046.5(CALR3):c.564del (p.Gln189fs)
|
rs747656642
|
0.00012
|
NM_000093.5(COL5A1):c.1888C>T (p.Arg630Trp)
|
rs577618553
|
0.00011
|
NM_001267550.2(TTN):c.22091G>A (p.Arg7364Gln)
|
rs200128066
|
0.00011
|
NM_001267550.2(TTN):c.51712C>T (p.Pro17238Ser)
|
rs773035917
|
0.00011
|
NM_001386795.1(DTNA):c.1652G>A (p.Arg551His)
|
rs142108185
|
0.00011
|
NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln)
|
rs34321232
|
0.00011
|
NM_012464.5(TLL1):c.809C>G (p.Pro270Arg)
|
rs560690746
|
0.00011
|
NM_013266.4(CTNNA3):c.1628G>A (p.Arg543Gln)
|
rs369033938
|
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_000256.3(MYBPC3):c.529C>T (p.Arg177Cys)
|
rs193922385
|
0.00010
|
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp)
|
rs200546266
|
0.00010
|
NM_001103.4(ACTN2):c.1192C>T (p.Arg398Cys)
|
rs148189507
|
0.00010
|
NM_001330588.2(TPP2):c.2591A>G (p.Lys864Arg)
|
rs770781368
|
0.00010
|
NM_001386795.1(DTNA):c.614C>T (p.Thr205Met)
|
rs201071018
|
0.00010
|
NM_001458.5(FLNC):c.7289C>T (p.Ala2430Val)
|
rs200516164
|
0.00010
|
NM_002471.4(MYH6):c.161G>A (p.Arg54Gln)
|
rs727503239
|
0.00010
|
NM_003239.5(TGFB3):c.873G>A (p.Pro291=)
|
rs370006165
|
0.00010
|
NM_025103.4(IFT74):c.968A>G (p.Glu323Gly)
|
rs202139740
|
0.00010
|
NM_032578.4(MYPN):c.2864G>A (p.Arg955Gln)
|
rs199476414
|
0.00010
|
NM_170707.4(LMNA):c.1202G>A (p.Arg401His)
|
rs141490569
|
0.00010
|
NM_000051.4(ATM):c.670A>G (p.Lys224Glu)
|
rs145053092
|
0.00009
|
NM_000302.4(PLOD1):c.1650G>A (p.Thr550=)
|
rs201999965
|
0.00009
|
NM_000722.4(CACNA2D1):c.1066A>G (p.Lys356Glu)
|
rs201682618
|
0.00009
|
NM_000747.3(CHRNB1):c.647G>A (p.Arg216Gln)
|
rs200684767
|
0.00009
|
NM_001267550.2(TTN):c.79334G>A (p.Arg26445His)
|
rs764254441
|
0.00009
|
NM_001267550.2(TTN):c.81565C>G (p.Leu27189Val)
|
rs142391957
|
0.00009
|
NM_001458.5(FLNC):c.1605C>T (p.Cys535=)
|
rs199976790
|
0.00009
|
NM_001458.5(FLNC):c.5888C>T (p.Thr1963Met)
|
rs772580545
|
0.00009
|
NM_003476.5(CSRP3):c.379G>A (p.Val127Ile)
|
rs149201422
|
0.00009
|
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu)
|
rs201105958
|
0.00009
|
NM_201384.3(PLEC):c.11077G>A (p.Ala3693Thr)
|
rs369497741
|
0.00009
|
NM_000152.5(GAA):c.1194+3G>C
|
rs368539333
|
0.00008
|
NM_001105206.3(LAMA4):c.2599C>A (p.Pro867Thr)
|
rs782162498
|
0.00008
|
NM_001134363.3(RBM20):c.2147G>A (p.Arg716Gln)
|
rs375798246
|
0.00008
|
NM_002230.4(JUP):c.475G>T (p.Val159Leu)
|
rs782702266
|
0.00008
|
NM_016599.5(MYOZ2):c.479C>T (p.Pro160Leu)
|
rs200791464
|
0.00008
|
NM_000051.4(ATM):c.902G>A (p.Gly301Asp)
|
rs202208861
|
0.00007
|
NM_001105206.3(LAMA4):c.874G>A (p.Glu292Lys)
|
rs781838464
|
0.00007
|
NM_001267550.2(TTN):c.100396C>T (p.Arg33466Cys)
|
rs371908649
|
0.00007
|
NM_001458.5(FLNC):c.1886G>A (p.Arg629Gln)
|
rs765173966
|
0.00007
|
NM_017617.5(NOTCH1):c.3853G>A (p.Val1285Met)
|
rs756972680
|
0.00007
|
NM_017617.5(NOTCH1):c.7397C>T (p.Thr2466Met)
|
rs369167555
|
0.00007
|
NM_000051.4(ATM):c.3577-13T>C
|
rs587780856
|
0.00006
|
NM_000117.3(EMD):c.454C>T (p.Arg152Cys)
|
rs376456050
|
0.00006
|
NM_000132.4(F8):c.3701A>T (p.His1234Leu)
|
rs145507297
|
0.00006
|
NM_000257.4(MYH7):c.2360G>A (p.Arg787His)
|
rs376754645
|
0.00006
|
NM_000257.4(MYH7):c.4283T>C (p.Leu1428Ser)
|
rs727503244
|
0.00006
|
NM_001083116.3(PRF1):c.666C>A (p.His222Gln)
|
rs751247865
|
0.00006
|
NM_001134363.3(RBM20):c.3478G>A (p.Gly1160Ser)
|
rs374611807
|
0.00006
|
NM_001148.6(ANK2):c.1397C>T (p.Thr466Met)
|
rs786205722
|
0.00006
|
NM_001267550.2(TTN):c.3514C>A (p.Leu1172Ile)
|
rs375735354
|
0.00006
|
NM_001267550.2(TTN):c.49937G>A (p.Arg16646Gln)
|
rs746384579
|
0.00006
|
NM_001267550.2(TTN):c.65389T>G (p.Cys21797Gly)
|
rs375830234
|
0.00006
|
NM_001267550.2(TTN):c.76566_76568dup (p.Arg25523dup)
|
rs772268958
|
0.00006
|
NM_001267550.2(TTN):c.97643G>A (p.Arg32548His)
|
rs55676195
|
0.00006
|
NM_001458.5(FLNC):c.5468C>T (p.Thr1823Met)
|
rs140857707
|
0.00006
|
NM_002230.4(JUP):c.1909C>T (p.Arg637Cys)
|
rs531732438
|
0.00006
|
NM_005751.5(AKAP9):c.3793G>A (p.Glu1265Lys)
|
rs1424485718
|
0.00006
|
NM_007078.3(LDB3):c.676G>A (p.Gly226Arg)
|
rs771099131
|
0.00006
|
NM_012134.3(LMOD1):c.349C>T (p.Arg117Trp)
|
rs559672115
|
0.00006
|
NM_014000.3(VCL):c.2467C>T (p.Arg823Trp)
|
rs779047174
|
0.00006
|
NM_014140.4(SMARCAL1):c.836T>C (p.Phe279Ser)
|
rs775057827
|
0.00006
|
NM_014391.3(ANKRD1):c.544C>T (p.Arg182Cys)
|
rs754717867
|
0.00006
|
NM_017617.5(NOTCH1):c.3271G>A (p.Gly1091Ser)
|
rs768095251
|
0.00006
|
NM_020774.4(MIB1):c.376C>T (p.Arg126Ter)
|
rs190657514
|
0.00006
|
NM_021245.4(MYOZ1):c.551A>G (p.Tyr184Cys)
|
rs201443990
|
0.00006
|
NM_053025.4(MYLK):c.4565T>C (p.Val1522Ala)
|
rs763880352
|
0.00006
|
NM_144573.4(NEXN):c.1453G>A (p.Glu485Lys)
|
rs368812830
|
0.00006
|
NM_170707.4(LMNA):c.1567G>A (p.Gly523Arg)
|
rs201583907
|
0.00006
|
NM_182961.4(SYNE1):c.22016C>A (p.Ala7339Asp)
|
rs146907132
|
0.00006
|
NM_000051.4(ATM):c.4724G>A (p.Arg1575His)
|
rs550552791
|
0.00005
|
NM_000540.3(RYR1):c.4306G>A (p.Val1436Met)
|
rs200289457
|
0.00005
|
NM_001105206.3(LAMA4):c.4208C>T (p.Pro1403Leu)
|
rs1255830395
|
0.00005
|
NM_001134363.3(RBM20):c.2017C>T (p.Arg673Trp)
|
rs397516599
|
0.00005
|
NM_001267550.2(TTN):c.59456C>T (p.Thr19819Ile)
|
rs758287054
|
0.00005
|
NM_001267550.2(TTN):c.80168G>A (p.Arg26723His)
|
rs371615296
|
0.00005
|
NM_001267550.2(TTN):c.90452T>C (p.Leu30151Pro)
|
rs568322187
|
0.00005
|
NM_001267550.2(TTN):c.98866A>G (p.Met32956Val)
|
rs727503538
|
0.00005
|
NM_001276345.2(TNNT2):c.887G>A (p.Arg296His)
|
rs141121678
|
0.00005
|
NM_001378615.1(CC2D2A):c.4553G>A (p.Arg1518Gln)
|
rs200645738
|
0.00005
|
NM_001458.5(FLNC):c.2425G>A (p.Val809Met)
|
rs775770671
|
0.00005
|
NM_001458.5(FLNC):c.4054C>T (p.Arg1352Cys)
|
rs367931139
|
0.00005
|
NM_002230.4(JUP):c.460G>A (p.Glu154Lys)
|
rs782765314
|
0.00005
|
NM_016203.4(PRKAG2):c.1114G>A (p.Asp372Asn)
|
rs760826751
|
0.00005
|
NM_017617.5(NOTCH1):c.1774C>T (p.Arg592Cys)
|
rs1472690723
|
0.00005
|
NM_017617.5(NOTCH1):c.2908A>G (p.Thr970Ala)
|
rs201053795
|
0.00005
|
NM_000138.5(FBN1):c.3145G>A (p.Gly1049Ser)
|
rs778181932
|
0.00004
|
NM_000238.4(KCNH2):c.2717C>T (p.Ser906Leu)
|
rs199473435
|
0.00004
|
NM_000256.3(MYBPC3):c.2783C>T (p.Ser928Leu)
|
rs773819168
|
0.00004
|
NM_000256.3(MYBPC3):c.787G>A (p.Gly263Arg)
|
rs373730381
|
0.00004
|
NM_000335.5(SCN5A):c.3080G>A (p.Arg1027Gln)
|
rs763891399
|
0.00004
|
NM_000335.5(SCN5A):c.5958C>A (p.Asn1986Lys)
|
rs199473335
|
0.00004
|
NM_001005242.3(PKP2):c.464G>C (p.Ser155Thr)
|
rs141438322
|
0.00004
|
NM_001134363.3(RBM20):c.3344C>T (p.Ser1115Phe)
|
rs769531546
|
0.00004
|
NM_001267550.2(TTN):c.102275G>A (p.Arg34092His)
|
rs757918924
|
0.00004
|
NM_001267550.2(TTN):c.4274C>T (p.Ala1425Val)
|
rs746063269
|
0.00004
|
NM_001267550.2(TTN):c.75997G>A (p.Gly25333Ser)
|
rs757343393
|
0.00004
|
NM_001267550.2(TTN):c.92716G>A (p.Asp30906Asn)
|
rs534881266
|
0.00004
|
NM_001276345.2(TNNT2):c.461G>A (p.Arg154Gln)
|
rs745632066
|
0.00004
|
NM_001308093.3(GATA4):c.860C>T (p.Ala287Val)
|
rs116430078
|
0.00004
|
NM_001370466.1(NOD2):c.1088A>T (p.Asp363Val)
|
rs769622495
|
0.00004
|
NM_001386795.1(DTNA):c.2168C>T (p.Thr723Met)
|
rs200977103
|
0.00004
|
NM_001458.5(FLNC):c.1936G>A (p.Asp646Asn)
|
rs372668691
|
0.00004
|
NM_001605.3(AARS1):c.1102C>T (p.Pro368Ser)
|
rs371184292
|
0.00004
|
NM_001943.5(DSG2):c.593A>G (p.Tyr198Cys)
|
rs786204291
|
0.00004
|
NM_002834.5(PTPN11):c.173A>G (p.Asn58Ser)
|
rs751437780
|
0.00004
|
NM_003476.5(CSRP3):c.365G>A (p.Arg122Gln)
|
rs193922667
|
0.00004
|
NM_004006.3(DMD):c.10223C>T (p.Thr3408Ile)
|
rs777510517
|
0.00004
|
NM_004415.4(DSP):c.8500C>T (p.Arg2834Cys)
|
rs753033333
|
0.00004
|
NM_004517.4(ILK):c.551A>C (p.Lys184Thr)
|
rs762454800
|
0.00004
|
NM_007078.3(LDB3):c.944C>T (p.Pro315Leu)
|
rs371649487
|
0.00004
|
NM_013266.4(CTNNA3):c.1721T>C (p.Leu574Pro)
|
rs375428912
|
0.00004
|
NM_017617.5(NOTCH1):c.3121G>A (p.Gly1041Ser)
|
rs375260339
|
0.00004
|
NM_020778.5(ALPK3):c.2444G>A (p.Gly815Glu)
|
rs199907297
|
0.00004
|
NM_144573.4(NEXN):c.1471G>C (p.Glu491Gln)
|
rs373057251
|
0.00004
|
NM_000132.4(F8):c.733C>T (p.Arg245Trp)
|
rs781943956
|
0.00003
|
NM_000152.5(GAA):c.2105G>A (p.Arg702His)
|
rs398123172
|
0.00003
|
NM_000243.3(MEFV):c.2164G>A (p.Val722Met)
|
rs104895201
|
0.00003
|
NM_000256.3(MYBPC3):c.2198G>A (p.Arg733His)
|
rs534345197
|
0.00003
|
NM_000257.4(MYH7):c.611G>A (p.Arg204His)
|
rs397516260
|
0.00003
|
NM_000335.5(SCN5A):c.1663G>A (p.Glu555Lys)
|
rs199473123
|
0.00003
|
NM_000335.5(SCN5A):c.3401G>T (p.Ser1134Ile)
|
rs557957405
|
0.00003
|
NM_001103.4(ACTN2):c.1162T>A (p.Trp388Arg)
|
rs376144003
|
0.00003
|
NM_001103.4(ACTN2):c.1541T>C (p.Ile514Thr)
|
rs371954663
|
0.00003
|
NM_001103.4(ACTN2):c.1984C>T (p.Arg662Trp)
|
rs150021739
|
0.00003
|
NM_001159699.2(FHL1):c.792C>T (p.Tyr264=)
|
rs755385158
|
0.00003
|
NM_001232.4(CASQ2):c.141G>C (p.Lys47Asn)
|
rs1553197917
|
0.00003
|
NM_001242896.3(DEPDC5):c.3461C>T (p.Ser1154Phe)
|
rs578244490
|
0.00003
|
NM_001267550.2(TTN):c.28137A>G (p.Ile9379Met)
|
rs1060500516
|
0.00003
|
NM_001267550.2(TTN):c.54140C>T (p.Ala18047Val)
|
rs373815064
|
0.00003
|
NM_001267550.2(TTN):c.5741C>T (p.Ala1914Val)
|
rs374203813
|
0.00003
|
NM_001267550.2(TTN):c.64916G>A (p.Arg21639Gln)
|
rs373282633
|
0.00003
|
NM_001267550.2(TTN):c.72271G>C (p.Asp24091His)
|
rs878924658
|
0.00003
|
NM_001267550.2(TTN):c.87815A>G (p.Tyr29272Cys)
|
rs886039083
|
0.00003
|
NM_001267550.2(TTN):c.90845C>T (p.Thr30282Met)
|
rs756769026
|
0.00003
|
NM_001267550.2(TTN):c.93940G>A (p.Gly31314Ser)
|
rs368608059
|
0.00003
|
NM_002471.4(MYH6):c.3583C>T (p.Arg1195Cys)
|
rs769756450
|
0.00003
|
NM_003476.5(CSRP3):c.140C>T (p.Thr47Met)
|
rs397516851
|
0.00003
|
NM_003640.5(ELP1):c.2803A>T (p.Thr935Ser)
|
rs145484092
|
0.00003
|
NM_003673.4(TCAP):c.208C>T (p.Arg70Trp)
|
rs775636212
|
0.00003
|
NM_004006.3(DMD):c.9649T>C (p.Tyr3217His)
|
rs766981643
|
0.00003
|
NM_004415.4(DSP):c.6368G>A (p.Arg2123His)
|
rs142272846
|
0.00003
|
NM_007294.4(BRCA1):c.-19-22A>G
|
rs774892235
|
0.00003
|
NM_017617.5(NOTCH1):c.1801G>A (p.Glu601Lys)
|
rs749381544
|
0.00003
|
NM_017617.5(NOTCH1):c.2003C>T (p.Pro668Leu)
|
rs576030298
|
0.00003
|
NM_144573.4(NEXN):c.1053+1G>A
|
rs397517843
|
0.00003
|
NM_170707.4(LMNA):c.1001G>A (p.Ser334Asn)
|
rs370656306
|
0.00003
|
NM_000116.5(TAFAZZIN):c.254G>A (p.Arg85His)
|
rs782196269
|
0.00002
|
NM_000218.3(KCNQ1):c.590C>T (p.Pro197Leu)
|
rs200108320
|
0.00002
|
NM_000219.6(KCNE1):c.142C>T (p.Leu48Phe)
|
rs75610894
|
0.00002
|
NM_000243.3(MEFV):c.56A>G (p.Tyr19Cys)
|
rs769605806
|
0.00002
|
NM_000243.3(MEFV):c.955G>A (p.Glu319Lys)
|
rs104895110
|
0.00002
|
NM_000256.3(MYBPC3):c.133G>A (p.Gly45Arg)
|
rs775837337
|
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.2877G>A (p.Thr959=)
|
rs727503181
|
0.00002
|
NM_000256.3(MYBPC3):c.713G>A (p.Arg238His)
|
rs727504396
|
0.00002
|
NM_000256.3(MYBPC3):c.818G>A (p.Arg273His)
|
rs376461745
|
0.00002
|
NM_000257.4(MYH7):c.1384A>T (p.Ile462Phe)
|
rs397516105
|
0.00002
|
NM_000257.4(MYH7):c.3056C>A (p.Thr1019Asn)
|
rs755392435
|
0.00002
|
NM_000257.4(MYH7):c.4076G>A (p.Arg1359His)
|
rs750836033
|
0.00002
|
NM_000258.3(MYL3):c.187C>T (p.Arg63Cys)
|
rs565312070
|
0.00002
|
NM_000431.4(MVK):c.1156G>A (p.Asp386Asn)
|
rs104895380
|
0.00002
|
NM_001005242.3(PKP2):c.1379-1972G>A
|
rs779392697
|
0.00002
|
NM_001035.3(RYR2):c.9259C>T (p.Pro3087Ser)
|
rs777736127
|
0.00002
|
NM_001101362.3(KBTBD13):c.251G>C (p.Cys84Ser)
|
rs999785767
|
0.00002
|
NM_001134363.3(RBM20):c.3550G>A (p.Ala1184Thr)
|
rs1300657058
|
0.00002
|
NM_001243133.2(NLRP3):c.1642C>T (p.Arg548Cys)
|
rs201678213
|
0.00002
|
NM_001267550.2(TTN):c.105562A>C (p.Ile35188Leu)
|
rs727504491
|
0.00002
|
NM_001267550.2(TTN):c.16576A>C (p.Asn5526His)
|
rs752558197
|
0.00002
|
NM_001267550.2(TTN):c.343G>A (p.Val115Met)
|
rs564777385
|
0.00002
|
NM_001267550.2(TTN):c.35351G>A (p.Arg11784His)
|
rs756874306
|
0.00002
|
NM_001267550.2(TTN):c.3989G>A (p.Arg1330His)
|
rs761402128
|
0.00002
|
NM_001267550.2(TTN):c.49570C>T (p.Arg16524Cys)
|
rs779336886
|
0.00002
|
NM_001267550.2(TTN):c.55808C>T (p.Pro18603Leu)
|
rs531760043
|
0.00002
|
NM_001267550.2(TTN):c.60314T>G (p.Val20105Gly)
|
rs727504490
|
0.00002
|
NM_001267550.2(TTN):c.69554G>A (p.Arg23185Gln)
|
rs201448988
|
0.00002
|
NM_001267550.2(TTN):c.80717G>A (p.Arg26906Gln)
|
rs536183519
|
0.00002
|
NM_001267550.2(TTN):c.87041G>A (p.Arg29014Gln)
|
rs772536290
|
0.00002
|
NM_001458.5(FLNC):c.7382G>A (p.Ser2461Asn)
|
rs550547714
|
0.00002
|
NM_001458.5(FLNC):c.977T>C (p.Val326Ala)
|
rs570010538
|
0.00002
|
NM_001927.4(DES):c.1308G>C (p.Arg436Ser)
|
rs985185092
|
0.00002
|
NM_001999.4(FBN2):c.811A>C (p.Thr271Pro)
|
rs201988564
|
0.00002
|
NM_002471.4(MYH6):c.3468C>T (p.Gly1156=)
|
rs545420992
|
0.00002
|
NM_002471.4(MYH6):c.4010C>T (p.Ser1337Leu)
|
rs758922922
|
0.00002
|
NM_004006.3(DMD):c.1945C>T (p.Arg649Trp)
|
rs770572107
|
0.00002
|
NM_004415.4(DSP):c.5324G>T (p.Arg1775Ile)
|
rs34738426
|
0.00002
|
NM_004415.4(DSP):c.82T>G (p.Tyr28Asp)
|
rs766454930
|
0.00002
|
NM_013266.4(CTNNA3):c.2104A>G (p.Ile702Val)
|
rs1197911296
|
0.00002
|
NM_013266.4(CTNNA3):c.67G>A (p.Val23Met)
|
rs776250185
|
0.00002
|
NM_014476.6(PDLIM3):c.803C>T (p.Pro268Leu)
|
rs1188446991
|
0.00002
|
NM_018685.5(ANLN):c.688C>T (p.Pro230Ser)
|
rs369437029
|
0.00002
|
NM_020297.4(ABCC9):c.3221A>G (p.Asn1074Ser)
|
rs765629988
|
0.00002
|
NM_020433.5(JPH2):c.1564C>T (p.Arg522Trp)
|
rs770850932
|
0.00002
|
NM_024334.3(TMEM43):c.1000+16G>A
|
rs377252553
|
0.00002
|
NM_024422.6(DSC2):c.865C>T (p.Pro289Ser)
|
rs200802591
|
0.00002
|
NM_053025.4(MYLK):c.304G>C (p.Gly102Arg)
|
rs1345796517
|
0.00002
|
NM_144573.4(NEXN):c.874G>A (p.Asp292Asn)
|
rs373377525
|
0.00002
|
NM_170707.4(LMNA):c.1879C>T (p.Arg627Cys)
|
rs777841827
|
0.00002
|
NM_198428.3(BBS9):c.2059A>G (p.Lys687Glu)
|
rs760800602
|
0.00002
|
NM_000051.4(ATM):c.4420C>G (p.His1474Asp)
|
rs587779840
|
0.00001
|
NM_000059.4(BRCA2):c.1780A>C (p.Ile594Leu)
|
rs431825287
|
0.00001
|
NM_000093.5(COL5A1):c.3725C>T (p.Thr1242Ile)
|
rs769091549
|
0.00001
|
NM_000138.5(FBN1):c.6659G>A (p.Arg2220Gln)
|
rs780651466
|
0.00001
|
NM_000169.3(GLA):c.1196G>C (p.Trp399Ser)
|
rs782449839
|
0.00001
|
NM_000243.3(MEFV):c.536G>A (p.Ser179Asn)
|
rs104895125
|
0.00001
|
NM_000256.3(MYBPC3):c.1985T>C (p.Val662Ala)
|
rs772970643
|
0.00001
|
NM_000257.4(MYH7):c.328G>A (p.Gly110Ser)
|
rs763893822
|
0.00001
|
NM_000257.4(MYH7):c.3828G>C (p.Gln1276His)
|
rs1892377170
|
0.00001
|
NM_000257.4(MYH7):c.5527A>G (p.Ser1843Gly)
|
rs200157204
|
0.00001
|
NM_000258.3(MYL3):c.220G>A (p.Gly74Arg)
|
rs730880956
|
0.00001
|
NM_000335.5(SCN5A):c.1820G>T (p.Gly607Val)
|
rs757119370
|
0.00001
|
NM_000540.3(RYR1):c.15021G>C (p.Gln5007His)
|
rs376293495
|
0.00001
|
NM_001005242.3(PKP2):c.2213T>C (p.Val738Ala)
|
rs1555141066
|
0.00001
|
NM_001005242.3(PKP2):c.713C>T (p.Pro238Leu)
|
rs560220280
|
0.00001
|
NM_001035.3(RYR2):c.10816G>A (p.Ala3606Thr)
|
rs772511386
|
0.00001
|
NM_001035.3(RYR2):c.2444C>T (p.Pro815Leu)
|
rs537596448
|
0.00001
|
NM_001042432.2(CLN3):c.1017C>G (p.Cys339Trp)
|
rs768479701
|
0.00001
|
NM_001077653.2(TBX20):c.4G>A (p.Glu2Lys)
|
rs752468331
|
0.00001
|
NM_001080467.3(MYO5B):c.655C>T (p.Arg219Cys)
|
rs755378266
|
0.00001
|
NM_001083116.3(PRF1):c.260G>A (p.Arg87His)
|
rs557951406
|
0.00001
|
NM_001103.4(ACTN2):c.2569G>C (p.Asp857His)
|
rs533267299
|
0.00001
|
NM_001105206.3(LAMA4):c.1778A>G (p.His593Arg)
|
rs751004946
|
0.00001
|
NM_001105206.3(LAMA4):c.2057-2A>T
|
rs1780342227
|
0.00001
|
NM_001105206.3(LAMA4):c.2305T>C (p.Phe769Leu)
|
rs1554334959
|
0.00001
|
NM_001105206.3(LAMA4):c.3109C>T (p.Arg1037Ter)
|
rs782727584
|
0.00001
|
NM_001134363.3(RBM20):c.3578A>G (p.Tyr1193Cys)
|
rs535839168
|
0.00001
|
NM_001267550.2(TTN):c.105083C>T (p.Thr35028Met)
|
rs56001826
|
0.00001
|
NM_001267550.2(TTN):c.1168G>A (p.Gly390Ser)
|
rs794729412
|
0.00001
|
NM_001267550.2(TTN):c.1292C>T (p.Ala431Val)
|
rs1417215136
|
0.00001
|
NM_001267550.2(TTN):c.16179T>A (p.Asp5393Glu)
|
rs768837104
|
0.00001
|
NM_001267550.2(TTN):c.30492G>T (p.Glu10164Asp)
|
rs1064797276
|
0.00001
|
NM_001267550.2(TTN):c.41180G>A (p.Arg13727His)
|
rs750520224
|
0.00001
|
NM_001267550.2(TTN):c.55302G>A (p.Gln18434=)
|
rs567251026
|
0.00001
|
NM_001267550.2(TTN):c.62219A>T (p.Glu20740Val)
|
rs559490402
|
0.00001
|
NM_001267550.2(TTN):c.6383G>C (p.Trp2128Ser)
|
rs751340835
|
0.00001
|
NM_001267550.2(TTN):c.66780G>C (p.Glu22260Asp)
|
rs574543857
|
0.00001
|
NM_001267550.2(TTN):c.66820C>T (p.Arg22274Cys)
|
rs770627108
|
0.00001
|
NM_001267550.2(TTN):c.85646C>T (p.Thr28549Ile)
|
rs774609232
|
0.00001
|
NM_001267550.2(TTN):c.93154G>A (p.Val31052Met)
|
rs764170998
|
0.00001
|
NM_001267550.2(TTN):c.94880T>C (p.Ile31627Thr)
|
rs751714990
|
0.00001
|
NM_001267550.2(TTN):c.96566A>T (p.Glu32189Val)
|
rs1002475776
|
0.00001
|
NM_001276345.2(TNNT2):c.431G>A (p.Arg144Gln)
|
rs754037135
|
0.00001
|
NM_001386795.1(DTNA):c.1007C>T (p.Pro336Leu)
|
rs1293106380
|
0.00001
|
NM_001386795.1(DTNA):c.784C>T (p.His262Tyr)
|
rs369043538
|
0.00001
|
NM_001458.5(FLNC):c.2627G>T (p.Gly876Val)
|
rs534407127
|
0.00001
|
NM_001927.4(DES):c.79G>A (p.Gly27Ser)
|
rs727504877
|
0.00001
|
NM_001943.5(DSG2):c.445G>A (p.Val149Ile)
|
rs372606274
|
0.00001
|
NM_001943.5(DSG2):c.874C>T (p.Arg292Cys)
|
rs770921270
|
0.00001
|
NM_002230.4(JUP):c.1667T>C (p.Met556Thr)
|
rs781884735
|
0.00001
|
NM_002230.4(JUP):c.374C>T (p.Ser125Leu)
|
rs782527770
|
0.00001
|
NM_002471.4(MYH6):c.1545C>T (p.Gly515=)
|
rs200235378
|
0.00001
|
NM_002471.4(MYH6):c.5407G>C (p.Glu1803Gln)
|
rs768893054
|
0.00001
|
NM_002471.4(MYH6):c.5653G>A (p.Glu1885Lys)
|
rs760353963
|
0.00001
|
NM_002474.3(MYH11):c.1402-12C>G
|
rs769036516
|
0.00001
|
NM_003036.4(SKI):c.1735G>A (p.Ala579Thr)
|
rs370558210
|
0.00001
|
NM_003098.3(SNTA1):c.497-5A>G
|
rs202178576
|
0.00001
|
NM_003476.5(CSRP3):c.98C>T (p.Thr33Met)
|
rs758947977
|
0.00001
|
NM_004006.3(DMD):c.3937A>G (p.Met1313Val)
|
rs794729003
|
0.00001
|
NM_004281.4(BAG3):c.452G>A (p.Cys151Tyr)
|
rs770678896
|
0.00001
|
NM_004281.4(BAG3):c.957C>G (p.Asn319Lys)
|
rs767223665
|
0.00001
|
NM_004415.4(DSP):c.2933T>A (p.Ile978Lys)
|
rs1060500615
|
0.00001
|
NM_004415.4(DSP):c.6059G>C (p.Gly2020Ala)
|
rs1327599046
|
0.00001
|
NM_004415.4(DSP):c.695G>A (p.Arg232His)
|
rs749438581
|
0.00001
|
NM_004415.4(DSP):c.7994C>T (p.Thr2665Met)
|
rs151309106
|
0.00001
|
NM_004517.4(ILK):c.721C>T (p.Arg241Trp)
|
rs765298592
|
0.00001
|
NM_004715.5(CTDP1):c.1723A>G (p.Ser575Gly)
|
rs779827748
|
0.00001
|
NM_005159.5(ACTC1):c.622C>T (p.Arg208Cys)
|
rs727505179
|
0.00001
|
NM_006258.4(PRKG1):c.1016T>C (p.Leu339Ser)
|
rs775720873
|
0.00001
|
NM_007078.3(LDB3):c.1870G>A (p.Ala624Thr)
|
rs879218802
|
0.00001
|
NM_007194.4(CHEK2):c.1265G>A (p.Ser422Asn)
|
rs549755590
|
0.00001
|
NM_013266.4(CTNNA3):c.1351C>T (p.His451Tyr)
|
rs1844757301
|
0.00001
|
NM_013266.4(CTNNA3):c.451G>T (p.Val151Leu)
|
rs1418212392
|
0.00001
|
NM_013266.4(CTNNA3):c.889C>T (p.Arg297Ter)
|
rs771161312
|
0.00001
|
NM_014000.3(VCL):c.1298G>A (p.Arg433His)
|
rs754046223
|
0.00001
|
NM_014000.3(VCL):c.1681A>G (p.Arg561Gly)
|
rs1321164216
|
0.00001
|
NM_014000.3(VCL):c.2285G>A (p.Arg762Gln)
|
rs540039788
|
0.00001
|
NM_014000.3(VCL):c.2848G>A (p.Glu950Lys)
|
rs1174019524
|
0.00001
|
NM_014000.3(VCL):c.539A>G (p.Gln180Arg)
|
rs1841681941
|
0.00001
|
NM_014000.3(VCL):c.689G>A (p.Arg230His)
|
rs749628307
|
0.00001
|
NM_016203.4(PRKAG2):c.253C>T (p.Pro85Ser)
|
rs754570613
|
0.00001
|
NM_016599.5(MYOZ2):c.712G>A (p.Gly238Arg)
|
rs796785947
|
0.00001
|
NM_018055.5(NODAL):c.1021G>A (p.Val341Met)
|
rs751176757
|
0.00001
|
NM_020297.4(ABCC9):c.2324C>A (p.Pro775His)
|
rs796559062
|
0.00001
|
NM_020529.3(NFKBIA):c.847A>T (p.Ser283Cys)
|
rs989569540
|
0.00001
|
NM_024334.3(TMEM43):c.658C>T (p.Arg220Cys)
|
rs562700595
|
0.00001
|
NM_144573.4(NEXN):c.1364T>C (p.Ile455Thr)
|
rs1338886488
|
0.00001
|
NM_000059.4(BRCA2):c.3074AGA[3] (p.Lys1026dup)
|
rs1342774938
|
|
NM_000059.4(BRCA2):c.4130A>T (p.Asn1377Ile)
|
rs749624669
|
|
NM_000059.4(BRCA2):c.596C>T (p.Ala199Val)
|
rs878853593
|
|
NM_000059.4(BRCA2):c.7388A>T (p.Asn2463Ile)
|
rs1593918551
|
|
NM_000081.4(LYST):c.8980G>A (p.Glu2994Lys)
|
|
|
NM_000214.3(JAG1):c.611A>G (p.Asp204Gly)
|
rs2122623598
|
|
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)
|
rs61732874
|
|
NM_000243.3(MEFV):c.751G>A (p.Glu251Lys)
|
rs104895111
|
|
NM_000256.3(MYBPC3):c.1224-19G>A
|
rs587776699
|
|
NM_000256.3(MYBPC3):c.149G>A (p.Ser50Asn)
|
rs2142869623
|
|
NM_000256.3(MYBPC3):c.1586C>A (p.Thr529Asn)
|
rs397515911
|
|
NM_000256.3(MYBPC3):c.3142C>A (p.Arg1048Ser)
|
rs11570113
|
|
NM_000256.3(MYBPC3):c.3416T>C (p.Val1139Ala)
|
rs2142850291
|
|
NM_000257.4(MYH7):c.1291G>C (p.Val431Leu)
|
rs606231322
|
|
NM_000257.4(MYH7):c.1319T>C (p.Val440Ala)
|
rs1244840759
|
|
NM_000257.4(MYH7):c.1436A>C (p.Asn479Thr)
|
rs727504236
|
|
NM_000257.4(MYH7):c.1823T>C (p.Leu608Ser)
|
rs2138671995
|
|
NM_000257.4(MYH7):c.4327G>A (p.Asp1443Asn)
|
rs2138646412
|
|
NM_000257.4(MYH7):c.4541A>G (p.Glu1514Gly)
|
rs1351712658
|
|
NM_000257.4(MYH7):c.4853T>C (p.Met1618Thr)
|
rs1257400566
|
|
NM_000257.4(MYH7):c.5368A>G (p.Ile1790Val)
|
rs2138638553
|
|
NM_000257.4(MYH7):c.5494C>T (p.Arg1832Cys)
|
rs201865159
|
|
NM_000257.4(MYH7):c.5534G>A (p.Arg1845Gln)
|
rs730880822
|
|
NM_000258.3(MYL3):c.421G>A (p.Asp141Asn)
|
rs1483805765
|
|
NM_000302.4(PLOD1):c.1334T>G (p.Val445Gly)
|
rs922997919
|
|
NM_000335.5(SCN5A):c.3370G>T (p.Ala1124Ser)
|
rs796070621
|
|
NM_000335.5(SCN5A):c.5123C>T (p.Thr1708Met)
|
rs199473297
|
|
NM_000363.5(TNNI3):c.539A>G (p.Asp180Gly)
|
rs1060499912
|
|
NM_000391.4(TPP1):c.1142C>G (p.Ser381Cys)
|
rs1241569976
|
|
NM_000487.6(ARSA):c.1079T>C (p.Leu360Pro)
|
rs2082658031
|
|
NM_000501.4(ELN):c.1778C>A (p.Ala593Asp)
|
rs1796553212
|
|
NM_000569.8(FCGR3A):c.32T>A (p.Leu11Gln)
|
rs371773367
|
|
NM_000702.4(ATP1A2):c.1318G>A (p.Val440Met)
|
rs768088341
|
|
NM_000719.7(CACNA1C):c.3050A>G (p.His1017Arg)
|
rs2153426949
|
|
NM_000719.7(CACNA1C):c.3712A>G (p.Met1238Val)
|
rs2077233710
|
|
NM_000719.7(CACNA1C):c.6302G>A (p.Arg2101Lys)
|
rs2153891904
|
|
NM_001005242.3(PKP2):c.834G>T (p.Gln278His)
|
rs1956949832
|
|
NM_001007228.2(SPOP):c.412C>T (p.Arg138Cys)
|
rs968974699
|
|
NM_001009944.3(PKD1):c.3437_3439del (p.Phe1146del)
|
rs1320867301
|
|
NM_001009944.3(PKD1):c.4654GTC[1] (p.Val1553del)
|
rs1362745259
|
|
NM_001018005.2(TPM1):c.832C>G (p.Leu278Val)
|
rs730881161
|
|
NM_001018005.2(TPM1):c.851+5dup
|
rs2036008903
|
|
NM_001035.3(RYR2):c.473G>A (p.Cys158Tyr)
|
rs2149792694
|
|
NM_001065.4(TNFRSF1A):c.123T>G (p.Asp41Glu)
|
rs104895271
|
|
NM_001079802.2(FKTN):c.22G>T (p.Val8Leu)
|
rs368981218
|
|
NM_001099857.5(IKBKG):c.1219A>G (p.Met407Val)
|
rs137853322
|
|
NM_001103.4(ACTN2):c.1444C>T (p.Arg482Trp)
|
rs199604590
|
|
NM_001103.4(ACTN2):c.1741G>A (p.Glu581Lys)
|
rs1398504608
|
|
NM_001103.4(ACTN2):c.343G>C (p.Val115Leu)
|
rs397516579
|
|
NM_001105206.3(LAMA4):c.1176_1177insT (p.Asp393Ter)
|
rs2114895179
|
|
NM_001114753.3(ENG):c.583G>A (p.Glu195Lys)
|
rs1255912441
|
|
NM_001134363.3(RBM20):c.1528-1G>C
|
rs534513476
|
|
NM_001134363.3(RBM20):c.2761A>T (p.Ile921Phe)
|
rs397516608
|
|
NM_001134363.3(RBM20):c.3262C>G (p.Pro1088Ala)
|
rs969716149
|
|
NM_001134363.3(RBM20):c.665C>T (p.Ala222Val)
|
rs2135042487
|
|
NM_001232.4(CASQ2):c.757C>T (p.Arg253Cys)
|
rs727504510
|
|
NM_001267550.2(TTN):c.10433_10443del (p.Asn3478fs)
|
rs2154336089
|
|
NM_001267550.2(TTN):c.106793A>C (p.Gln35598Pro)
|
rs953569145
|
|
NM_001267550.2(TTN):c.11605G>C (p.Val3869Leu)
|
rs747929496
|
|
NM_001267550.2(TTN):c.13003GAA[1] (p.Glu4336del)
|
rs1481572021
|
|
NM_001267550.2(TTN):c.23674A>G (p.Ile7892Val)
|
rs2078060561
|
|
NM_001267550.2(TTN):c.44481AGA[1] (p.Glu14828del)
|
rs727505315
|
|
NM_001267550.2(TTN):c.50317G>A (p.Glu16773Lys)
|
rs879025295
|
|
NM_001267550.2(TTN):c.50793C>A (p.Val16931=)
|
rs2056308114
|
|
NM_001267550.2(TTN):c.50794A>T (p.Asn16932Tyr)
|
rs2056307677
|
|
NM_001267550.2(TTN):c.50923C>A (p.Pro16975Thr)
|
rs2154199573
|
|
NM_001267550.2(TTN):c.51379G>T (p.Val17127Phe)
|
rs397517603
|
|
NM_001267550.2(TTN):c.55393G>T (p.Ala18465Ser)
|
rs899078606
|
|
NM_001267550.2(TTN):c.5780T>G (p.Leu1927Arg)
|
rs2154345987
|
|
NM_001267550.2(TTN):c.6292C>T (p.Arg2098Trp)
|
rs763722868
|
|
NM_001267550.2(TTN):c.7907A>T (p.Glu2636Val)
|
rs1207371966
|
|
NM_001267550.2(TTN):c.83062C>T (p.Arg27688Cys)
|
rs757441189
|
|
NM_001267550.2(TTN):c.94032_94040dup (p.Val31346_Glu31347insAspIleVal)
|
rs1697753486
|
|
NM_001267550.2(TTN):c.95950A>G (p.Arg31984Gly)
|
rs2154144165
|
|
NM_001267550.2(TTN):c.97604T>C (p.Ile32535Thr)
|
rs2154141649
|
|
NM_001267550.2(TTN):c.98713G>A (p.Glu32905Lys)
|
rs763344306
|
|
NM_001267550.2(TTN):c.99966G>T (p.Trp33322Cys)
|
rs775769503
|
|
NM_001276345.2(TNNT2):c.443A>G (p.Gln148Arg)
|
rs730880232
|
|
NM_001289808.2(CRYAB):c.167G>C (p.Arg56Pro)
|
rs781986102
|
|
NM_001289808.2(CRYAB):c.201+17C>G
|
rs782366958
|
|
NM_001365536.1(SCN9A):c.2467C>G (p.Leu823Val)
|
rs1029813878
|
|
NM_001370259.2(MEN1):c.1630C>T (p.Pro544Ser)
|
rs1387157979
|
|
NM_001375808.2(LPIN2):c.206T>C (p.Ile69Thr)
|
rs1555677681
|
|
NM_001379081.2(FREM1):c.2459C>T (p.Pro820Leu)
|
rs868815512
|
|
NM_001458.5(FLNC):c.248_265dup (p.Pro88_Arg89insHisArgLysPheHisPro)
|
rs2128932214
|
|
NM_001458.5(FLNC):c.3259A>C (p.Thr1087Pro)
|
rs1272329612
|
|
NM_001458.5(FLNC):c.4418G>A (p.Gly1473Asp)
|
rs1174959724
|
|
NM_001458.5(FLNC):c.4925C>G (p.Thr1642Arg)
|
rs756074974
|
|
NM_001458.5(FLNC):c.6716G>A (p.Arg2239Gln)
|
rs1350832784
|
|
NM_001458.5(FLNC):c.6716G>T (p.Arg2239Leu)
|
rs1350832784
|
|
NM_001458.5(FLNC):c.7334A>G (p.His2445Arg)
|
rs2128940144
|
|
NM_001458.5(FLNC):c.7372G>A (p.Glu2458Lys)
|
rs2128940160
|
|
NM_001927.4(DES):c.725T>A (p.Val242Glu)
|
rs794728984
|
|
NM_001927.4(DES):c.802C>G (p.Pro268Ala)
|
rs1434613160
|
|
NM_001999.4(FBN2):c.1826C>G (p.Thr609Ser)
|
rs2126958666
|
|
NM_002230.4(JUP):c.633C>A (p.Asn211Lys)
|
rs372145644
|
|
NM_002230.4(JUP):c.809T>G (p.Leu270Arg)
|
rs794729040
|
|
NM_002471.4(MYH6):c.1007C>G (p.Ala336Gly)
|
rs138572790
|
|
NM_002471.4(MYH6):c.1100A>T (p.Gln367Leu)
|
rs2138615086
|
|
NM_002471.4(MYH6):c.2093A>G (p.Asn698Ser)
|
rs2138604595
|
|
NM_002471.4(MYH6):c.2292+1G>T
|
rs771569935
|
|
NM_002471.4(MYH6):c.4429C>T (p.Arg1477Cys)
|
rs201989347
|
|
NM_002471.4(MYH6):c.4955T>C (p.Leu1652Pro)
|
rs2138584834
|
|
NM_002474.3(MYH11):c.232A>G (p.Lys78Glu)
|
rs2151381334
|
|
NM_003193.5(TBCE):c.569A>C (p.Lys190Thr)
|
rs150592371
|
|
NM_003239.5(TGFB3):c.1138C>T (p.Pro380Ser)
|
rs1555360033
|
|
NM_003413.4(ZIC3):c.667AACATG[3] (p.223NM[3])
|
rs779610526
|
|
NM_003476.5(CSRP3):c.286_287del (p.Pro96fs)
|
rs960577385
|
|
NM_003640.5(ELP1):c.2825G>A (p.Arg942Gln)
|
rs149845612
|
|
NM_003978.5(PSTPIP1):c.821C>T (p.Thr274Met)
|
rs2076440871
|
|
NM_004415.4(DSP):c.3146C>G (p.Ser1049Trp)
|
rs751361395
|
|
NM_004415.4(DSP):c.6073C>T (p.Pro2025Ser)
|
rs1759514545
|
|
NM_004415.4(DSP):c.8230A>G (p.Arg2744Gly)
|
rs1198357388
|
|
NM_004415.4(DSP):c.8531G>T (p.Gly2844Val)
|
rs374137476
|
|
NM_005159.5(ACTC1):c.967G>T (p.Ala323Ser)
|
rs771011464
|
|
NM_005585.5(SMAD6):c.1318G>A (p.Asp440Asn)
|
rs924329960
|
|
NM_005902.4(SMAD3):c.304G>A (p.Glu102Lys)
|
rs1962537574
|
|
NM_006929.5(SKIC2):c.116C>T (p.Pro39Leu)
|
rs2151802046
|
|
NM_007294.4(BRCA1):c.3467A>C (p.Asp1156Ala)
|
rs2154312065
|
|
NM_007294.4(BRCA1):c.3888TTC[1] (p.Ser1298del)
|
rs80358339
|
|
NM_012134.3(LMOD1):c.1769T>C (p.Leu590Pro)
|
rs1681246206
|
|
NM_012186.3(FOXE3):c.562TACGCGCCC[3] (p.188YAP[3])
|
rs768610152
|
|
NM_014000.3(VCL):c.2276G>A (p.Arg759Gln)
|
rs1425397914
|
|
NM_014000.3(VCL):c.379G>A (p.Asp127Asn)
|
rs1554816666
|
|
NM_014391.3(ANKRD1):c.222dup (p.Leu75fs)
|
rs776659587
|
|
NM_014846.4(WASHC5):c.2149C>T (p.Arg717Cys)
|
rs1354434507
|
|
NM_014846.4(WASHC5):c.694G>C (p.Asp232His)
|
rs1817136668
|
|
NM_016203.4(PRKAG2):c.504A>C (p.Gln168His)
|
rs2151477345
|
|
NM_020297.4(ABCC9):c.2474C>T (p.Ala825Val)
|
rs964127282
|
|
NM_020433.5(JPH2):c.1213G>A (p.Ala405Thr)
|
rs557878787
|
|
NM_020774.4(MIB1):c.1322A>C (p.Asn441Thr)
|
rs730880135
|
|
NM_024592.5(SRD5A3):c.951_955del (p.Phe318fs)
|
rs565935886
|
|
NM_032578.4(MYPN):c.2302C>T (p.Pro768Ser)
|
rs772356751
|
|
NM_144573.4(NEXN):c.1112C>T (p.Pro371Leu)
|
rs200067011
|
|
NM_144573.4(NEXN):c.1733G>T (p.Arg578Ile)
|
rs374878979
|
|
NM_145046.5(CALR3):c.1068_1069del (p.Glu357fs)
|
rs2122122870
|
|
NM_174934.4(SCN4B):c.208T>C (p.Tyr70His)
|
rs1029021066
|
|
NM_198253.3(TERT):c.395G>A (p.Arg132Gln)
|
rs2126690021
|
|