NM_000371.4(TTR):c.424G>A (p.Val142Ile)
|
rs76992529
|
0.00501
|
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys)
|
rs121964857
|
0.00044
|
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp)
|
rs375882485
|
0.00010
|
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln)
|
rs121909374
|
0.00006
|
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter)
|
rs72646846
|
0.00006
|
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn)
|
rs74315445
|
0.00005
|
NM_000257.4(MYH7):c.1988G>A (p.Arg663His)
|
rs371898076
|
0.00005
|
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys)
|
rs397516074
|
0.00004
|
NM_001005242.3(PKP2):c.2357+1G>A
|
rs111517471
|
0.00004
|
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter)
|
rs17215500
|
0.00003
|
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)
|
rs3218716
|
0.00003
|
NM_001005242.3(PKP2):c.1557-1G>C
|
rs78897684
|
0.00003
|
NM_001005242.3(PKP2):c.2014-1G>C
|
rs193922674
|
0.00003
|
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)
|
rs727503054
|
0.00002
|
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn)
|
rs36211723
|
0.00002
|
NM_000256.3(MYBPC3):c.2373dup (p.Trp792fs)
|
rs397515963
|
0.00002
|
NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln)
|
rs397516349
|
0.00002
|
NM_000138.5(FBN1):c.6354C>T (p.Ile2118=)
|
rs112989722
|
0.00001
|
NM_000218.3(KCNQ1):c.1615C>T (p.Arg539Trp)
|
rs199472795
|
0.00001
|
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu)
|
rs199473456
|
0.00001
|
NM_000237.3(LPL):c.701C>T (p.Pro234Leu)
|
rs118204060
|
0.00001
|
NM_000237.3(LPL):c.829G>A (p.Asp277Asn)
|
rs118204068
|
0.00001
|
NM_000256.3(MYBPC3):c.821+1G>A
|
rs397516073
|
0.00001
|
NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys)
|
rs121913625
|
0.00001
|
NM_000257.4(MYH7):c.2155C>T (p.Arg719Trp)
|
rs121913637
|
0.00001
|
NM_000335.5(SCN5A):c.1100G>A (p.Arg367His)
|
rs28937318
|
0.00001
|
NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln)
|
rs201102492
|
0.00001
|
NM_000527.5(LDLR):c.2167G>T (p.Glu723Ter)
|
rs1057516127
|
0.00001
|
NM_000527.5(LDLR):c.523G>A (p.Asp175Asn)
|
rs121908033
|
0.00001
|
NM_001005242.3(PKP2):c.1780C>T (p.Gln594Ter)
|
rs397517012
|
0.00001
|
NM_001267550.2(TTN):c.48283C>T (p.Arg16095Ter)
|
rs374140736
|
0.00001
|
NM_001276345.2(TNNT2):c.360T>G (p.Phe120Leu)
|
rs727504331
|
0.00001
|
NM_001276345.2(TNNT2):c.890G>A (p.Trp297Ter)
|
rs727504247
|
0.00001
|
NM_002471.4(MYH6):c.735T>G (p.Phe245Leu)
|
rs1263987728
|
0.00001
|
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met)
|
rs121918457
|
0.00001
|
NM_004415.4(DSP):c.939+1G>A
|
rs727504443
|
0.00001
|
NM_016203.4(PRKAG2):c.905G>A (p.Arg302Gln)
|
rs121908987
|
0.00001
|
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp)
|
rs386134243
|
0.00001
|
NM_000090.4(COL3A1):c.4267G>T (p.Glu1423Ter)
|
rs1553510000
|
|
NM_000138.5(FBN1):c.1760G>A (p.Cys587Tyr)
|
rs1555399963
|
|
NM_000138.5(FBN1):c.2216G>A (p.Cys739Tyr)
|
rs1555399378
|
|
NM_000138.5(FBN1):c.3373C>T (p.Arg1125Ter)
|
rs727505006
|
|
NM_000138.5(FBN1):c.3G>T (p.Met1Ile)
|
rs886039072
|
|
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys)
|
rs111401431
|
|
NM_000138.5(FBN1):c.4615C>T (p.Arg1539Ter)
|
rs111231312
|
|
NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter)
|
rs113871094
|
|
NM_000138.5(FBN1):c.5626T>C (p.Cys1876Arg)
|
rs1555395980
|
|
NM_000138.5(FBN1):c.5666G>A (p.Cys1889Tyr)
|
rs1566899500
|
|
NM_000138.5(FBN1):c.7180C>T (p.Arg2394Ter)
|
rs397515848
|
|
NM_000169.3(GLA):c.902G>A (p.Arg301Gln)
|
rs104894828
|
|
NM_000218.3(KCNQ1):c.1014CTT[1] (p.Phe340del)
|
rs397508068
|
|
NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp)
|
rs199473411
|
|
NM_000218.3(KCNQ1):c.1135T>C (p.Trp379Arg)
|
rs199472768
|
|
NM_000218.3(KCNQ1):c.1513C>T (p.Gln505Ter)
|
rs397508091
|
|
NM_000218.3(KCNQ1):c.1760C>T (p.Thr587Met)
|
rs120074189
|
|
NM_000218.3(KCNQ1):c.502G>C (p.Gly168Arg)
|
rs179489
|
|
NM_000218.3(KCNQ1):c.603_604+9del
|
rs794728580
|
|
NM_000218.3(KCNQ1):c.608T>C (p.Leu203Pro)
|
rs199472823
|
|
NM_000218.3(KCNQ1):c.919_921+9del
|
rs794728557
|
|
NM_000238.4(KCNH2):c.1841C>T (p.Ala614Val)
|
rs199472944
|
|
NM_000238.4(KCNH2):c.3054del (p.Thr1019fs)
|
rs1554424138
|
|
NM_000256.3(MYBPC3):c.1000G>T (p.Glu334Ter)
|
rs573916965
|
|
NM_000256.3(MYBPC3):c.1038_1042dup (p.Met348fs)
|
rs730880336
|
|
NM_000256.3(MYBPC3):c.1120C>T (p.Gln374Ter)
|
rs730880635
|
|
NM_000256.3(MYBPC3):c.1183A>T (p.Lys395Ter)
|
rs1233894123
|
|
NM_000256.3(MYBPC3):c.1897+1G>A
|
rs397515935
|
|
NM_000256.3(MYBPC3):c.1928-2A>G
|
rs397515937
|
|
NM_000256.3(MYBPC3):c.2149-2del
|
rs1555121488
|
|
NM_000256.3(MYBPC3):c.2308+1G>A
|
rs112738974
|
|
NM_000256.3(MYBPC3):c.2309-2A>G
|
rs111729952
|
|
NM_000256.3(MYBPC3):c.2311dup (p.Val771fs)
|
rs397515960
|
|
NM_000256.3(MYBPC3):c.2670G>A (p.Trp890Ter)
|
rs397515982
|
|
NM_000256.3(MYBPC3):c.2789del (p.Leu930fs)
|
rs876657705
|
|
NM_000256.3(MYBPC3):c.2920C>T (p.Gln974Ter)
|
rs727503180
|
|
NM_000256.3(MYBPC3):c.3192dup (p.Lys1065fs)
|
rs397516007
|
|
NM_000256.3(MYBPC3):c.3293G>A (p.Trp1098Ter)
|
rs397516013
|
|
NM_000256.3(MYBPC3):c.3327del (p.Met1110fs)
|
rs730880719
|
|
NM_000256.3(MYBPC3):c.357del (p.Ala120fs)
|
rs869025463
|
|
NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup)
|
rs193922384
|
|
NM_000256.3(MYBPC3):c.416C>G (p.Ser139Ter)
|
rs730880704
|
|
NM_000256.3(MYBPC3):c.551dup (p.Lys185fs)
|
rs397516059
|
|
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu)
|
rs397516068
|
|
NM_000256.3(MYBPC3):c.901A>T (p.Lys301Ter)
|
rs730880629
|
|
NM_000257.4(MYH7):c.1208G>A (p.Arg403Gln)
|
rs121913624
|
|
NM_000257.4(MYH7):c.1750G>C (p.Gly584Arg)
|
rs121913626
|
|
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln)
|
rs121913641
|
|
NM_000257.4(MYH7):c.2167C>G (p.Arg723Gly)
|
rs121913630
|
|
NM_000257.4(MYH7):c.2221G>T (p.Gly741Trp)
|
rs121913632
|
|
NM_000257.4(MYH7):c.2711G>A (p.Arg904His)
|
rs397516165
|
|
NM_000335.5(SCN5A):c.1218C>G (p.Asn406Lys)
|
rs199473108
|
|
NM_000335.5(SCN5A):c.1231G>A (p.Val411Met)
|
rs72549410
|
|
NM_000335.5(SCN5A):c.1428_1431del (p.Ser476fs)
|
rs794728906
|
|
NM_000335.5(SCN5A):c.1603C>T (p.Arg535Ter)
|
rs1417036453
|
|
NM_000335.5(SCN5A):c.3992del (p.Pro1331fs)
|
rs727504801
|
|
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
|
|
|
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
|
|
|
NM_000527.5(LDLR):c.1048C>T (p.Arg350Ter)
|
|
|
NM_000527.5(LDLR):c.1099_1104delinsGT (p.Leu367fs)
|
|
|
NM_000527.5(LDLR):c.1102T>C (p.Cys368Arg)
|
rs879254791
|
|
NM_000527.5(LDLR):c.1135T>C (p.Cys379Arg)
|
|
|
NM_000527.5(LDLR):c.1216C>A (p.Arg406=)
|
rs121908043
|
|
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
|
|
|
NM_000527.5(LDLR):c.1257C>G (p.Tyr419Ter)
|
rs774439908
|
|
NM_000527.5(LDLR):c.1382del (p.Gly461fs)
|
rs1600727337
|
|
NM_000527.5(LDLR):c.1467C>G (p.Tyr489Ter)
|
rs370777955
|
|
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
|
|
|
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
|
|
|
NM_000527.5(LDLR):c.2000G>A (p.Cys667Tyr)
|
rs28942083
|
|
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
|
|
|
NM_000527.5(LDLR):c.2447_2450dup (p.Asn817fs)
|
rs387906302
|
|
NM_000527.5(LDLR):c.313_313+1del
|
rs875989896
|
|
NM_000527.5(LDLR):c.314-1G>A
|
rs879254471
|
|
NM_000527.5(LDLR):c.519C>G (p.Cys173Trp)
|
rs769318035
|
|
NM_000527.5(LDLR):c.648dup (p.Asp217Ter)
|
rs875989903
|
|
NM_000527.5(LDLR):c.675_681dup (p.Glu228delinsIleTer)
|
rs1555803426
|
|
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
|
|
|
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg)
|
rs140241383
|
|
NM_000527.5(LDLR):c.938_939delinsAT (p.Cys313Tyr)
|
rs875989910
|
|
NM_000891.3(KCNJ2):c.653G>A (p.Arg218Gln)
|
rs199473384
|
|
NM_001005242.3(PKP2):c.148_151del (p.Thr50fs)
|
rs397516997
|
|
NM_001005242.3(PKP2):c.2167+1G>A
|
rs794729116
|
|
NM_001005242.3(PKP2):c.2377del (p.Ser793fs)
|
rs727504432
|
|
NM_001005242.3(PKP2):c.273_277del (p.His91_Leu92insTer)
|
rs1555148259
|
|
NM_001134363.3(RBM20):c.1913C>T (p.Pro638Leu)
|
rs267607003
|
|
NM_001256850.1(TTN):c.86916dup (p.Val28973fs)
|
rs730880365
|
|
NM_001267550.2(TTN):c.45107del (p.Asn15036fs)
|
rs2058305359
|
|
NM_001267550.2(TTN):c.51525del (p.Ser17177fs)
|
rs1553692435
|
|
NM_001267550.2(TTN):c.51581G>A (p.Trp17194Ter)
|
rs1553692290
|
|
NM_001267550.2(TTN):c.51654C>G (p.Tyr17218Ter)
|
rs1131691655
|
|
NM_001267550.2(TTN):c.53653G>T (p.Glu17885Ter)
|
rs727503607
|
|
NM_001267550.2(TTN):c.53984del (p.Met17995fs)
|
rs1553682326
|
|
NM_001267550.2(TTN):c.55639C>T (p.Gln18547Ter)
|
rs2053403381
|
|
NM_001267550.2(TTN):c.56831T>A (p.Leu18944Ter)
|
rs2052528941
|
|
NM_001267550.2(TTN):c.65890A>T (p.Lys21964Ter)
|
rs2048015439
|
|
NM_001267550.2(TTN):c.68449C>T (p.Arg22817Ter)
|
rs371678190
|
|
NM_001267550.2(TTN):c.68823C>A (p.Tyr22941Ter)
|
rs200717463
|
|
NM_001267550.2(TTN):c.68923_68924insT (p.Pro22975fs)
|
rs1553617407
|
|
NM_001267550.2(TTN):c.69880del (p.Thr23294fs)
|
rs1553614987
|
|
NM_001267550.2(TTN):c.71437_71440dup (p.Thr23814fs)
|
rs1709445083
|
|
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter)
|
rs397517689
|
|
NM_001267550.2(TTN):c.72347del (p.Asn24116fs)
|
rs1553609675
|
|
NM_001267550.2(TTN):c.72663del (p.Pro24223fs)
|
rs1575775337
|
|
NM_001267550.2(TTN):c.72826del (p.Thr24276fs)
|
rs971618751
|
|
NM_001267550.2(TTN):c.72848_72849del (p.Lys24283fs)
|
rs794729339
|
|
NM_001267550.2(TTN):c.76179_76180insAACTTAGTGAACCAAGCCCTCCT (p.Ser25394fs)
|
rs878854335
|
|
NM_001267550.2(TTN):c.76717C>T (p.Arg25573Ter)
|
rs767450912
|
|
NM_001267550.2(TTN):c.76904dup (p.Asn25635fs)
|
rs1553601017
|
|
NM_001267550.2(TTN):c.78947dup (p.Ser26317fs)
|
rs1553592841
|
|
NM_001267550.2(TTN):c.81037C>T (p.Arg27013Ter)
|
rs869038795
|
|
NM_001267550.2(TTN):c.81724G>T (p.Glu27242Ter)
|
rs868349549
|
|
NM_001267550.2(TTN):c.82657G>T (p.Gly27553Ter)
|
rs869178171
|
|
NM_001267550.2(TTN):c.85295del (p.Leu28432fs)
|
rs1575616801
|
|
NM_001267550.2(TTN):c.86076dup (p.Ser28693fs)
|
rs1285329277
|
|
NM_001267550.2(TTN):c.86799_86802del (p.Glu28935_Gly28936insTer)
|
rs727504856
|
|
NM_001267550.2(TTN):c.88825C>T (p.Arg29609Ter)
|
rs766450773
|
|
NM_001267550.2(TTN):c.90706G>T (p.Glu30236Ter)
|
rs974510652
|
|
NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter)
|
rs72648250
|
|
NM_001267550.2(TTN):c.94291G>T (p.Glu31431Ter)
|
rs1697595705
|
|
NM_001267550.2(TTN):c.97492+1G>C
|
rs727505319
|
|
NM_001276345.2(TNNT2):c.328_333del (p.Asn110_Glu111del)
|
rs1571627587
|
|
NM_001276345.2(TNNT2):c.508GAG[3] (p.Glu173del)
|
rs397516470
|
|
NM_001371904.1(APOA5):c.990_993del (p.Asp332fs)
|
rs774150500
|
|
NM_001927.4(DES):c.1034T>C (p.Leu345Pro)
|
rs57639980
|
|
NM_002880.4(RAF1):c.1837C>G (p.Leu613Val)
|
rs80338797
|
|
NM_003242.6(TGFBR2):c.1067G>C (p.Arg356Pro)
|
rs727504292
|
|
NM_003242.6(TGFBR2):c.1489C>T (p.Arg497Ter)
|
rs863223852
|
|
NM_003242.6(TGFBR2):c.1609C>T (p.Arg537Cys)
|
rs104893809
|
|
NM_004281.4(BAG3):c.925C>T (p.Arg309Ter)
|
rs869248137
|
|
NM_004415.4(DSP):c.1054_1059delinsCA (p.Asp352fs)
|
rs1064793435
|
|
NM_004415.4(DSP):c.1762C>T (p.Gln588Ter)
|
rs1581805658
|
|
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter)
|
rs770873593
|
|
NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu)
|
rs63750743
|
|
NM_170707.4(LMNA):c.1228C>T (p.Gln410Ter)
|
rs1057515421
|
|
NM_170707.4(LMNA):c.1494G>A (p.Trp498Ter)
|
rs57730570
|
|
NM_170707.4(LMNA):c.1609-3C>G
|
rs267607581
|
|