NM_001927.4(DES):c.638C>T (p.Ala213Val)
|
rs41272699
|
0.01015
|
NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu)
|
rs189569984
|
0.00554
|
NM_000152.5(GAA):c.-32-13T>G
|
rs386834236
|
0.00384
|
NM_003238.6(TGFB2):c.619G>C (p.Val207Leu)
|
rs10482810
|
0.00359
|
NM_003476.5(CSRP3):c.10T>C (p.Trp4Arg)
|
rs45550635
|
0.00271
|
NM_002471.4(MYH6):c.3979-2A>C
|
rs1158854454
|
0.00172
|
NM_001103.4(ACTN2):c.26A>G (p.Gln9Arg)
|
rs121434525
|
0.00070
|
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu)
|
rs45496496
|
0.00050
|
NM_001114753.3(ENG):c.-9G>A
|
rs368423516
|
0.00040
|
NM_001114753.3(ENG):c.1633G>A (p.Gly545Ser)
|
rs142896669
|
0.00037
|
NM_001204.7(BMPR2):c.1042G>A (p.Val348Ile)
|
rs201067849
|
0.00020
|
NM_003238.6(TGFB2):c.199G>A (p.Val67Met)
|
rs201761868
|
0.00015
|
NM_004415.4(DSP):c.889G>A (p.Asp297Asn)
|
rs201930322
|
0.00014
|
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp)
|
rs199472776
|
0.00013
|
NM_000335.5(SCN5A):c.3832G>A (p.Val1278Ile)
|
rs199473341
|
0.00011
|
NM_017617.5(NOTCH1):c.6938G>A (p.Arg2313Gln)
|
rs371069660
|
0.00011
|
NM_019055.6(ROBO4):c.1471C>T (p.Arg491Cys)
|
rs374471211
|
0.00010
|
NM_053025.4(MYLK):c.3901C>T (p.Arg1301Cys)
|
rs368321325
|
0.00009
|
NM_144573.4(NEXN):c.586C>T (p.Arg196Cys)
|
rs369486891
|
0.00007
|
NM_014000.3(VCL):c.2531C>T (p.Pro844Leu)
|
rs145393322
|
0.00006
|
NM_000238.4(KCNH2):c.443G>A (p.Arg148Gln)
|
rs374912424
|
0.00005
|
NM_000256.3(MYBPC3):c.2429G>A (p.Arg810His)
|
rs375675796
|
0.00005
|
NM_000435.3(NOTCH3):c.3806G>T (p.Gly1269Val)
|
rs781401262
|
0.00004
|
NM_001035.3(RYR2):c.950T>C (p.Met317Thr)
|
rs367601258
|
0.00004
|
NM_002890.3(RASA1):c.2089C>G (p.Pro697Ala)
|
rs759711265
|
0.00004
|
NM_014000.3(VCL):c.2046A>T (p.Leu682Phe)
|
rs565398652
|
0.00004
|
NM_024334.3(TMEM43):c.742C>A (p.Leu248Met)
|
rs780389237
|
0.00004
|
NM_144573.4(NEXN):c.1174C>T (p.Arg392Ter)
|
rs750076188
|
0.00004
|
NM_000023.4(SGCA):c.307A>G (p.Ile103Val)
|
rs370819630
|
0.00003
|
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter)
|
rs17215500
|
0.00003
|
NM_000256.3(MYBPC3):c.1224-52G>A
|
rs786204336
|
0.00003
|
NM_000256.3(MYBPC3):c.2909G>A (p.Arg970Gln)
|
rs727504346
|
0.00003
|
NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg)
|
rs374528680
|
0.00003
|
NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn)
|
rs104894503
|
0.00003
|
NM_004444.5(EPHB4):c.1190G>A (p.Arg397His)
|
rs538766032
|
0.00003
|
NM_000257.4(MYH7):c.5020G>A (p.Val1674Met)
|
rs397516235
|
0.00002
|
NM_000335.5(SCN5A):c.655C>T (p.Arg219Cys)
|
rs762012668
|
0.00002
|
NM_001927.4(DES):c.1048C>T (p.Arg350Trp)
|
rs62636492
|
0.00002
|
NM_002474.3(MYH11):c.632C>T (p.Thr211Met)
|
rs557865832
|
0.00002
|
NM_002775.5(HTRA1):c.1423C>G (p.Pro475Ala)
|
rs769157908
|
0.00002
|
NM_006939.4(SOS2):c.1208G>C (p.Cys403Ser)
|
rs201821194
|
0.00002
|
NM_000020.3(ACVRL1):c.1121G>A (p.Arg374Gln)
|
rs1060503248
|
0.00001
|
NM_000090.4(COL3A1):c.3271C>A (p.Arg1091Ser)
|
rs1464447467
|
0.00001
|
NM_000138.5(FBN1):c.7529A>G (p.Lys2510Arg)
|
rs767602851
|
0.00001
|
NM_000152.5(GAA):c.795T>A (p.Ser265Arg)
|
rs779785396
|
0.00001
|
NM_000256.3(MYBPC3):c.1227-13G>A
|
rs397515893
|
0.00001
|
NM_000257.4(MYH7):c.709C>T (p.Arg237Trp)
|
rs45516091
|
0.00001
|
NM_000435.3(NOTCH3):c.1819C>T (p.Arg607Cys)
|
rs777751303
|
0.00001
|
NM_000435.3(NOTCH3):c.2038C>T (p.Arg680Cys)
|
rs1250956327
|
0.00001
|
NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp)
|
rs190140598
|
0.00001
|
NM_001114753.3(ENG):c.1309C>T (p.Arg437Trp)
|
rs1434169817
|
0.00001
|
NM_001134363.3(RBM20):c.3578A>G (p.Tyr1193Cys)
|
rs535839168
|
0.00001
|
NM_001232.4(CASQ2):c.83A>G (p.Tyr28Cys)
|
rs1230753325
|
0.00001
|
NM_001267550.2(TTN):c.101107C>T (p.Arg33703Ter)
|
rs766265889
|
0.00001
|
NM_001376.5(DYNC1H1):c.1628C>T (p.Thr543Met)
|
rs780247153
|
0.00001
|
NM_001458.5(FLNC):c.1468C>T (p.Arg490Cys)
|
rs1422233407
|
0.00001
|
NM_001458.5(FLNC):c.7226G>A (p.Arg2409His)
|
rs767279710
|
0.00001
|
NM_001613.4(ACTA2):c.623G>A (p.Arg208His)
|
rs1057521703
|
0.00001
|
NM_001613.4(ACTA2):c.772C>T (p.Arg258Cys)
|
rs121434528
|
0.00001
|
NM_004444.5(EPHB4):c.1093C>T (p.Arg365Ter)
|
rs1279971868
|
0.00001
|
NM_015978.3(TNNI3K):c.380T>C (p.Ile127Thr)
|
rs779098224
|
0.00001
|
NM_000018.4(ACADVL):c.1605+2T>A
|
rs1597537351
|
|
NM_000020.3(ACVRL1):c.1231C>T (p.Arg411Trp)
|
rs121909287
|
|
NM_000020.3(ACVRL1):c.1247-7T>G
|
|
|
NM_000020.3(ACVRL1):c.1346C>T (p.Pro449Leu)
|
rs2139084385
|
|
NM_000020.3(ACVRL1):c.1359_1360delinsT (p.Arg454fs)
|
|
|
NM_000020.3(ACVRL1):c.1362del (p.Leu455fs)
|
|
|
NM_000020.3(ACVRL1):c.1377+1G>A
|
rs863223406
|
|
NM_000020.3(ACVRL1):c.1435C>T (p.Arg479Ter)
|
rs1057517944
|
|
NM_000020.3(ACVRL1):c.430C>T (p.Arg144Ter)
|
rs758683062
|
|
NM_000020.3(ACVRL1):c.475G>T (p.Glu159Ter)
|
rs1940756257
|
|
NM_000020.3(ACVRL1):c.526-7C>G
|
|
|
NM_000020.3(ACVRL1):c.770T>C (p.Leu257Pro)
|
rs2139071033
|
|
NM_000020.3(ACVRL1):c.872_873del (p.Arg291fs)
|
rs1592224087
|
|
NM_000020.3(ACVRL1):c.988G>C (p.Asp330His)
|
|
|
NM_000238.4(KCNH2):c.959C>T (p.Ser320Leu)
|
rs199472886
|
|
NM_000256.3(MYBPC3):c.13G>T (p.Gly5Trp)
|
rs201278114
|
|
NM_000256.3(MYBPC3):c.1928-2A>G
|
rs397515937
|
|
NM_000256.3(MYBPC3):c.2219G>C (p.Gly740Ala)
|
|
|
NM_000256.3(MYBPC3):c.2708G>A (p.Gly903Asp)
|
rs1007623141
|
|
NM_000257.4(MYH7):c.1971G>T (p.Lys657Asn)
|
rs760736597
|
|
NM_000257.4(MYH7):c.2609G>T (p.Arg870Leu)
|
rs36211715
|
|
NM_000257.4(MYH7):c.5119A>G (p.Ile1707Val)
|
|
|
NM_000257.4(MYH7):c.5294T>A (p.Met1765Lys)
|
rs1595072009
|
|
NM_000257.4(MYH7):c.595G>A (p.Ala199Thr)
|
rs730880845
|
|
NM_000335.5(SCN5A):c.1385A>C (p.Glu462Ala)
|
rs199473114
|
|
NM_000335.5(SCN5A):c.5899A>G (p.Ile1967Val)
|
|
|
NM_000432.4(MYL2):c.64G>A (p.Glu22Lys)
|
rs104894368
|
|
NM_000435.3(NOTCH3):c.1279C>T (p.Arg427Cys)
|
rs1599391536
|
|
NM_000435.3(NOTCH3):c.1676G>A (p.Cys559Tyr)
|
rs2145433195
|
|
NM_000435.3(NOTCH3):c.2791A>T (p.Ser931Cys)
|
rs2145423783
|
|
NM_000435.3(NOTCH3):c.328C>T (p.Arg110Cys)
|
rs775836288
|
|
NM_000484.4(APP):c.1969G>A (p.Gly657Arg)
|
|
|
NM_000501.4(ELN):c.1909G>T (p.Ala637Ser)
|
rs536177240
|
|
NM_000702.4(ATP1A2):c.495+1G>A
|
|
|
NM_001005242.3(PKP2):c.148_151del (p.Thr50fs)
|
rs397516997
|
|
NM_001005242.3(PKP2):c.1689dup (p.Val564fs)
|
rs397517010
|
|
NM_001018005.2(TPM1):c.377G>T (p.Gly126Val)
|
rs1566962034
|
|
NM_001018005.2(TPM1):c.98A>C (p.Glu33Ala)
|
rs886039444
|
|
NM_001035.3(RYR2):c.12667_12669del (p.Lys4223del)
|
rs794728838
|
|
NM_001077653.2(TBX20):c.1003G>A (p.Gly335Arg)
|
|
|
NM_001103.4(ACTN2):c.239C>G (p.Ser80Ter)
|
|
|
NM_001103.4(ACTN2):c.2575G>A (p.Ala859Thr)
|
rs2102953709
|
|
NM_001103.4(ACTN2):c.698-2A>G
|
rs2102916915
|
|
NM_001114753.3(ENG):c.1280T>G (p.Val427Gly)
|
|
|
NM_001114753.3(ENG):c.1311+2T>C
|
|
|
NM_001114753.3(ENG):c.1311+5G>A
|
rs1830423993
|
|
NM_001114753.3(ENG):c.1429-1G>A
|
rs2131876244
|
|
NM_001114753.3(ENG):c.1465C>T (p.Gln489Ter)
|
rs1057521648
|
|
NM_001114753.3(ENG):c.1614_1615del (p.Val539fs)
|
rs2131875686
|
|
NM_001114753.3(ENG):c.360+1G>A
|
rs886039505
|
|
NM_001114753.3(ENG):c.361-4_361-3delinsAG
|
|
|
NM_001114753.3(ENG):c.503T>A (p.Ile168Asn)
|
rs2131890414
|
|
NM_001114753.3(ENG):c.523G>A (p.Ala175Thr)
|
|
|
NM_001114753.3(ENG):c.673C>T (p.Pro225Ser)
|
rs1554810373
|
|
NM_001114753.3(ENG):c.774del (p.Pro257_Tyr258insTer)
|
|
|
NM_001114753.3(ENG):c.776T>G (p.Val259Gly)
|
rs895393705
|
|
NM_001114753.3(ENG):c.808C>T (p.Gln270Ter)
|
rs1554810215
|
|
NM_001114753.3(ENG):c.903_904dup (p.Glu302fs)
|
|
|
NM_001114753.3(ENG):c.934del (p.Ala312fs)
|
rs2131886908
|
|
NM_001114753.3(ENG):c.983_984delinsAG (p.Ser328Ter)
|
rs1588581338
|
|
NM_001134363.3(RBM20):c.122T>A (p.Met41Lys)
|
|
|
NM_001134363.3(RBM20):c.2737G>A (p.Glu913Lys)
|
rs397516607
|
|
NM_001267550.2(TTN):c.3574C>T (p.Gln1192Ter)
|
|
|
NM_001267550.2(TTN):c.44284C>T (p.Arg14762Ter)
|
rs770767998
|
|
NM_001267550.2(TTN):c.44364del (p.Tyr14789fs)
|
rs397517576
|
|
NM_001267550.2(TTN):c.45724A>T (p.Arg15242Ter)
|
|
|
NM_001267550.2(TTN):c.50375_50378del (p.Glu16792fs)
|
|
|
NM_001267550.2(TTN):c.52848del (p.Trp17616fs)
|
|
|
NM_001267550.2(TTN):c.58684A>G (p.Ile19562Val)
|
rs397517637
|
|
NM_001267550.2(TTN):c.60407_60410dup (p.Ile20138fs)
|
|
|
NM_001267550.2(TTN):c.65696_65706del (p.Lys21899fs)
|
|
|
NM_001267550.2(TTN):c.9432C>T (p.Gly3144=)
|
|
|
NM_001267550.2(TTN):c.97647_97663dup (p.Thr32555delinsLysIleLysTyrLeuTer)
|
rs2154141588
|
|
NM_001281740.3(FHOD3):c.1807T>C (p.Ser603Pro)
|
|
|
NM_001281740.3(FHOD3):c.2561_2566del (p.Ala854_Gly855del)
|
|
|
NM_001281740.3(FHOD3):c.3851C>T (p.Ala1284Val)
|
|
|
NM_001365536.1(SCN9A):c.1828C>A (p.Pro610Thr)
|
rs41268673
|
|
NM_001458.5(FLNC):c.3937C>T (p.Arg1313Ter)
|
rs766330686
|
|
NM_001458.5(FLNC):c.4467del (p.Glu1489fs)
|
|
|
NM_001613.4(ACTA2):c.116G>A (p.Arg39His)
|
rs794728021
|
|
NM_001845.6(COL4A1):c.3743G>A (p.Gly1248Glu)
|
rs2139154591
|
|
NM_001845.6(COL4A1):c.4925T>A (p.Phe1642Tyr)
|
rs1271389791
|
|
NM_001845.6(COL4A1):c.89G>A (p.Gly30Asp)
|
|
|
NM_001927.4(DES):c.1216C>T (p.Arg406Trp)
|
rs121913003
|
|
NM_001985.3(ETFB):c.58-57dup
|
rs74357706
|
|
NM_002335.4(LRP5):c.34CTG[10] (p.Leu20dup)
|
rs72555376
|
|
NM_003239.5(TGFB3):c.1138C>T (p.Pro380Ser)
|
rs1555360033
|
|
NM_003476.5(CSRP3):c.509-3_509-2del
|
rs397516858
|
|
NM_003476.5(CSRP3):c.579_582del (p.Lys193fs)
|
rs727502946
|
|
NM_003937.3(KYNU):c.1045_1051del (p.Phe349fs)
|
rs770642379
|
|
NM_004333.6(BRAF):c.1056T>A (p.Asp352Glu)
|
rs1398817791
|
|
NM_004415.4(DSP):c.3928A>T (p.Lys1310Ter)
|
|
|
NM_004444.5(EPHB4):c.1153dup (p.Asp385fs)
|
rs761905713
|
|
NM_004444.5(EPHB4):c.2164C>T (p.Arg722Trp)
|
rs927472085
|
|
NM_004444.5(EPHB4):c.2287C>T (p.Arg763Ter)
|
rs1331371272
|
|
NM_004444.5(EPHB4):c.2467del (p.Asp823fs)
|
|
|
NM_004444.5(EPHB4):c.2484+1G>A
|
rs927772349
|
|
NM_004444.5(EPHB4):c.2915C>A (p.Ala972Asp)
|
|
|
NM_004444.5(EPHB4):c.410A>T (p.Lys137Met)
|
rs1813296662
|
|
NM_004612.4(TGFBR1):c.1216T>A (p.Leu406Ile)
|
rs200062984
|
|
NM_004612.4(TGFBR1):c.973+1G>A
|
rs863223818
|
|
NM_005572.4(LMNA):c.1711C>A (p.Arg571Ser)
|
rs80338938
|
|
NM_005633.4(SOS1):c.806T>C (p.Met269Thr)
|
rs137852813
|
|
NM_005902.4(SMAD3):c.1121T>A (p.Met374Lys)
|
rs1555414240
|
|
NM_006766.5(KAT6A):c.2734C>T (p.Gln912Ter)
|
|
|
NM_006766.5(KAT6A):c.5001_5012dup (p.Ala1669_Pro1672dup)
|
rs2150855509
|
|
NM_012186.3(FOXE3):c.398C>A (p.Pro133His)
|
rs759971494
|
|
NM_012464.5(TLL1):c.1414C>T (p.Gln472Ter)
|
rs746995698
|
|
NM_014000.3(VCL):c.1343T>C (p.Leu448Pro)
|
|
|
NM_015978.3(TNNI3K):c.19A>G (p.Arg7Gly)
|
|
|
NM_015978.3(TNNI3K):c.92T>G (p.Leu31Ter)
|
|
|
NM_020778.5(ALPK3):c.1204del (p.Ala402fs)
|
|
|
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs)
|
rs200056085
|
|
NM_024422.6(DSC2):c.68C>G (p.Ala23Gly)
|
|
|
NM_033629.6(TREX1):c.814del (p.Asp272fs)
|
rs2107265386
|
|
NM_053025.4(MYLK):c.3227A>C (p.Asn1076Thr)
|
rs2108578399
|
|
NM_053274.3(GLMN):c.157_161del (p.Glu52_Lys53insTer)
|
rs762515373
|
|
NM_144573.4(NEXN):c.1112C>T (p.Pro371Leu)
|
rs200067011
|
|
NM_170707.4(LMNA):c.174del (p.Leu59fs)
|
|
|
NM_170707.4(LMNA):c.497G>C (p.Arg166Pro)
|
rs267607570
|
|
NM_181486.4(TBX5):c.563C>T (p.Ala188Val)
|
|
|
NM_182961.4(SYNE1):c.17203-6del
|
rs55633181
|
|