ClinVar Miner

List of variants reported as uncertain significance by Biesecker Lab/Clinical Genomics Section, National Institutes of Health

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ClinVar version:
Total variants: 1216
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HGVS dbSNP gnomAD frequency
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met) rs74902811 0.02492
NM_006206.6(PDGFRA):c.1019G>A (p.Arg340Gln) rs77524207 0.01633
NM_003000.3(SDHB):c.8C>G (p.Ala3Gly) rs11203289 0.01309
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) rs63750055 0.00784
NM_003002.4(SDHD):c.149A>G (p.His50Arg) rs11214077 0.00679
NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met) rs115556836 0.00678
NM_000245.4(MET):c.948A>G (p.Ile316Met) rs35225896 0.00641
NM_001267550.2(TTN):c.83063G>A (p.Arg27688His) rs185002960 0.00608
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689 0.00419
NM_006206.6(PDGFRA):c.661C>T (p.Leu221Phe) rs139913632 0.00307
NM_001267550.2(TTN):c.103147G>C (p.Glu34383Gln) rs148525155 0.00274
NM_001267550.2(TTN):c.26863A>G (p.Ile8955Val) rs72648994 0.00274
NM_000077.5(CDKN2A):c.430C>T (p.Arg144Cys) rs116150891 0.00248
NM_002234.4(KCNA5):c.919C>T (p.Pro307Ser) rs17215409 0.00241
NM_001037.5(SCN1B):c.448+193G>A rs66876876 0.00227
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr) rs41419545 0.00217
NM_000222.3(KIT):c.1199A>G (p.Asn400Ser) rs72549294 0.00215
NM_000077.5(CDKN2A):c.150+37G>C rs45456595 0.00212
NM_000540.3(RYR1):c.9242T>C (p.Met3081Thr) rs147012990 0.00207
NM_001386795.1(DTNA):c.1297C>T (p.His433Tyr) rs139872140 0.00207
NM_001042492.3(NF1):c.5035A>G (p.Ile1679Val) rs147327414 0.00195
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710 0.00182
NM_003001.5(SDHC):c.*78G>A rs182629842 0.00182
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His) rs143987857 0.00171
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046 0.00158
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile) rs3211299 0.00158
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600 0.00146
NM_144997.7(FLCN):c.871+16T>A rs116643153 0.00146
NM_001267550.2(TTN):c.37432C>T (p.Pro12478Ser) rs200992277 0.00143
NM_002234.4(KCNA5):c.633G>C (p.Glu211Asp) rs35853292 0.00128
NM_001386795.1(DTNA):c.1000G>A (p.Val334Met) rs148123045 0.00120
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys) rs147136339 0.00108
NM_005359.6(SMAD4):c.565C>T (p.Arg189Cys) rs140743238 0.00104
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624 0.00100
NM_000264.5(PTCH1):c.2173C>T (p.Pro725Ser) rs149258400 0.00098
NM_001105206.3(LAMA4):c.1475T>A (p.Leu492His) rs3752579 0.00093
NM_000038.6(APC):c.6821C>T (p.Ala2274Val) rs34919187 0.00088
NM_002234.4(KCNA5):c.634C>T (p.Arg212Cys) rs77281462 0.00088
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn) rs41294980 0.00087
NM_003073.5(SMARCB1):c.500+24C>G rs199737164 0.00086
NM_006206.6(PDGFRA):c.599C>G (p.Thr200Ser) rs149951350 0.00086
NM_001267550.2(TTN):c.26494A>G (p.Ile8832Val) rs72648989 0.00083
NM_001267550.2(TTN):c.89426G>A (p.Arg29809Gln) rs72648238 0.00082
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys) rs150792276 0.00081
NM_007078.3(LDB3):c.1535A>C (p.Gln512Pro) rs138951890 0.00080
NM_001267550.2(TTN):c.58226G>A (p.Arg19409His) rs201505306 0.00076
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His) rs137932199 0.00073
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325 0.00072
NM_000038.6(APC):c.1604C>T (p.Ser535Phe) rs75870842 0.00071
NM_001267550.2(TTN):c.72146T>C (p.Leu24049Pro) rs56399205 0.00071
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val) rs149755320 0.00071
NM_144997.7(FLCN):c.959G>A (p.Arg320Gln) rs143483053 0.00071
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415 0.00069
NM_005477.3(HCN4):c.3577G>C (p.Glu1193Gln) rs200507617 0.00068
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) rs63751005 0.00067
NM_003098.3(SNTA1):c.440C>A (p.Thr147Asn) rs141724500 0.00067
NM_004100.5(EYA4):c.866C>T (p.Thr289Met) rs41286200 0.00067
NM_000264.5(PTCH1):c.3155C>T (p.Thr1052Met) rs138911275 0.00066
NM_001042492.3(NF1):c.7595C>T (p.Ala2532Val) rs148154172 0.00066
NM_001267550.2(TTN):c.89386G>A (p.Val29796Met) rs72648237 0.00066
NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn) rs138874610 0.00065
NM_001105206.3(LAMA4):c.3943G>A (p.Val1315Ile) rs70940811 0.00064
NM_006206.6(PDGFRA):c.1325T>C (p.Leu442Pro) rs139236922 0.00064
NM_001267550.2(TTN):c.54710T>C (p.Leu18237Pro) rs201412693 0.00063
NM_001267550.2(TTN):c.84263G>A (p.Ser28088Asn) rs200450022 0.00063
NM_001267550.2(TTN):c.20798G>C (p.Gly6933Ala) rs200118743 0.00062
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly) rs147000526 0.00062
NM_001267550.2(TTN):c.16313A>G (p.Lys5438Arg) rs190636272 0.00061
NM_000321.3(RB1):c.1966C>T (p.Arg656Trp) rs142509759 0.00059
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala) rs146176004 0.00059
NM_001042492.3(NF1):c.2033C>T (p.Pro678Leu) rs17881753 0.00058
NM_001267550.2(TTN):c.24952G>A (p.Val8318Ile) rs200103997 0.00058
NM_032578.4(MYPN):c.1130G>A (p.Arg377Gln) rs147596628 0.00058
NM_144997.7(FLCN):c.871+47G>A rs142934950 0.00058
NM_000264.5(PTCH1):c.3487G>A (p.Gly1163Ser) rs113663584 0.00057
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly) rs148725540 0.00056
NM_020975.6(RET):c.833C>A (p.Thr278Asn) rs35118262 0.00056
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg) rs201278114 0.00055
NM_001232.4(CASQ2):c.567C>G (p.Phe189Leu) rs146664754 0.00055
NM_001267550.2(TTN):c.63589A>G (p.Ile21197Val) rs72646855 0.00054
NM_003098.3(SNTA1):c.787G>T (p.Ala263Ser) rs150576530 0.00054
NM_000038.6(APC):c.1240C>T (p.Arg414Cys) rs137854567 0.00053
NM_000245.4(MET):c.607T>A (p.Ser203Thr) rs200861145 0.00053
NM_032578.4(MYPN):c.3833G>A (p.Arg1278Gln) rs142877365 0.00052
NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys) rs138089183 0.00051
NM_003673.4(TCAP):c.313G>C (p.Glu105Gln) rs146906267 0.00051
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys) rs140592056 0.00051
NM_014000.3(VCL):c.2521G>C (p.Asp841His) rs150385900 0.00051
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) rs45496496 0.00050
NM_000548.5(TSC2):c.1070C>T (p.Ala357Val) rs150195368 0.00050
NM_001037.5(SCN1B):c.448+112G>A rs72558026 0.00049
NM_000179.3(MSH6):c.2667G>T (p.Gln889His) rs149945495 0.00048
NM_001267550.2(TTN):c.95270T>C (p.Ile31757Thr) rs72648259 0.00048
NM_001386795.1(DTNA):c.955A>G (p.Met319Val) rs141981161 0.00047
NM_000251.3(MSH2):c.815C>T (p.Ala272Val) rs34136999 0.00046
NM_001267550.2(TTN):c.84148A>G (p.Ile28050Val) rs201348580 0.00045
NM_133379.5(TTN):c.12979A>G (p.Ile4327Val) rs144226338 0.00045
NM_001048174.2(MUTYH):c.11C>T (p.Pro4Leu) rs79777494 0.00044
NM_001048174.2(MUTYH):c.32G>A (p.Gly11Asp) rs75321043 0.00044
NM_001267550.2(TTN):c.84871C>T (p.Arg28291Cys) rs192152102 0.00044
NM_024426.6(WT1):c.1063T>C (p.Cys355Arg) rs142059681 0.00044
NM_033118.4(MYLK2):c.834T>A (p.Asn278Lys) rs41293104 0.00044
NM_000264.5(PTCH1):c.4324C>T (p.Arg1442Trp) rs143464326 0.00043
NM_001267550.2(TTN):c.13969A>C (p.Asn4657His) rs200204761 0.00043
NM_001267550.2(TTN):c.41521G>A (p.Asp13841Asn) rs201257644 0.00043
NM_001267550.2(TTN):c.21364G>A (p.Ala7122Thr) rs201394117 0.00042
NM_001267550.2(TTN):c.57442A>G (p.Met19148Val) rs188185141 0.00042
NM_133379.5(TTN):c.14806A>T (p.Thr4936Ser) rs72648909 0.00042
NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met) rs144079536 0.00041
NM_001267550.2(TTN):c.93367G>C (p.Val31123Leu) rs202096200 0.00041
NM_002471.4(MYH6):c.4193G>A (p.Arg1398Gln) rs150815925 0.00041
NM_003098.3(SNTA1):c.784A>C (p.Thr262Pro) rs200316080 0.00041
NM_000321.3(RB1):c.411A>T (p.Glu137Asp) rs3092902 0.00040
NM_000251.3(MSH2):c.1168C>T (p.Leu390Phe) rs17224367 0.00039
NM_001267550.2(TTN):c.10163G>A (p.Arg3388Gln) rs187703540 0.00039
NM_001267550.2(TTN):c.8884G>C (p.Ala2962Pro) rs765523736 0.00039
NM_000540.3(RYR1):c.12553G>A (p.Ala4185Thr) rs151119428 0.00037
NM_001386795.1(DTNA):c.1480G>A (p.Asp494Asn) rs144880521 0.00037
NM_004100.5(EYA4):c.979G>A (p.Asp327Asn) rs144415484 0.00037
NM_000256.3(MYBPC3):c.3535G>A (p.Glu1179Lys) rs199669878 0.00036
NM_000264.5(PTCH1):c.2479A>G (p.Ser827Gly) rs199476092 0.00036
NM_000264.5(PTCH1):c.4325G>A (p.Arg1442Gln) rs56023271 0.00036
NM_001040151.2(SCN3B):c.29T>C (p.Leu10Pro) rs121918282 0.00036
NM_020975.6(RET):c.200G>A (p.Arg67His) rs192489011 0.00036
NM_000222.3(KIT):c.821C>T (p.Thr274Met) rs138585275 0.00035
NM_001267550.2(TTN):c.57212T>C (p.Ile19071Thr) rs200001206 0.00035
NM_000038.6(APC):c.607C>G (p.Gln203Glu) rs141576417 0.00034
NM_001386795.1(DTNA):c.2039G>A (p.Arg680Gln) rs138143719 0.00034
NM_006206.6(PDGFRA):c.1285G>A (p.Gly429Arg) rs150577828 0.00034
NM_133379.5(TTN):c.15575G>A (p.Arg5192Lys) rs62179016 0.00034
NM_000179.3(MSH6):c.1867C>G (p.Pro623Ala) rs3136334 0.00033
NM_000368.5(TSC1):c.1079C>A (p.Thr360Asn) rs118203493 0.00033
NM_000540.3(RYR1):c.1453A>G (p.Met485Val) rs147723844 0.00033
NM_004100.5(EYA4):c.970+16C>G rs201985955 0.00033
NM_001267550.2(TTN):c.80425G>A (p.Gly26809Ser) rs369941201 0.00032
NM_000540.3(RYR1):c.5317C>T (p.Pro1773Ser) rs192863857 0.00031
NM_000548.5(TSC2):c.3430G>A (p.Val1144Met) rs45517294 0.00031
NM_000021.4(PSEN1):c.104G>A (p.Arg35Gln) rs63750592 0.00030
NM_014391.3(ANKRD1):c.368C>T (p.Thr123Met) rs145387010 0.00030
NM_000535.7(PMS2):c.572A>G (p.Tyr191Cys) rs375289386 0.00029
NM_001032283.3(TMPO):c.358C>A (p.Leu120Ile) rs200420073 0.00029
NM_001040151.2(SCN3B):c.328G>A (p.Val110Ile) rs147205617 0.00029
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp) rs138060032 0.00029
NM_002471.4(MYH6):c.831G>T (p.Gln277His) rs140660481 0.00029
NM_144997.7(FLCN):c.268G>T (p.Ala90Ser) rs141140415 0.00029
NM_000179.3(MSH6):c.3217C>T (p.Pro1073Ser) rs142254875 0.00028
NM_001105206.3(LAMA4):c.2614C>G (p.Pro872Ala) rs180931319 0.00028
NM_001267550.2(TTN):c.28507G>A (p.Val9503Ile) rs202160275 0.00028
NM_001386795.1(DTNA):c.2108G>A (p.Arg703Gln) rs142009291 0.00028
NM_004360.5(CDH1):c.892G>A (p.Ala298Thr) rs142822590 0.00028
NM_017841.4(SDHAF2):c.97C>T (p.Arg33Cys) rs144867876 0.00028
NM_001103.4(ACTN2):c.1484C>T (p.Thr495Met) rs200248944 0.00027
NM_001267550.2(TTN):c.42329T>C (p.Val14110Ala) rs34706299 0.00027
NM_007294.4(BRCA1):c.3713C>T (p.Pro1238Leu) rs28897688 0.00027
NM_000059.4(BRCA2):c.6853A>G (p.Ile2285Val) rs56272235 0.00026
NM_001267550.2(TTN):c.26849A>G (p.Tyr8950Cys) rs199557654 0.00026
NM_001267550.2(TTN):c.55354T>C (p.Ser18452Pro) rs372541479 0.00026
NM_001267550.2(TTN):c.92042C>A (p.Ala30681Asp) rs201400267 0.00026
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675 0.00026
NM_000256.3(MYBPC3):c.2873C>T (p.Thr958Ile) rs376504548 0.00025
NM_001103.4(ACTN2):c.1235C>T (p.Thr412Met) rs139515659 0.00025
NM_001267550.2(TTN):c.19547A>T (p.Lys6516Met) rs199796249 0.00025
NM_004329.3(BMPR1A):c.1433G>A (p.Arg478His) rs113849804 0.00025
NM_014000.3(VCL):c.1294C>G (p.Leu432Val) rs144146254 0.00025
NM_024422.6(DSC2):c.1729A>G (p.Ile577Val) rs201845641 0.00025
NM_172201.2(KCNE2):c.29C>T (p.Thr10Met) rs199473648 0.00025
NM_174934.4(SCN4B):c.194A>T (p.His65Leu) rs112363898 0.00025
NM_000245.4(MET):c.967A>G (p.Ser323Gly) rs201467281 0.00024
NM_000256.3(MYBPC3):c.1468G>A (p.Gly490Arg) rs200625851 0.00024
NM_001232.4(CASQ2):c.985C>T (p.Pro329Ser) rs28730713 0.00024
NM_020975.6(RET):c.785T>C (p.Val262Ala) rs139790943 0.00024
NM_024334.3(TMEM43):c.1111T>C (p.Tyr371His) rs116911972 0.00024
NM_024422.6(DSC2):c.857G>T (p.Gly286Val) rs199682735 0.00024
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln) rs149866955 0.00023
NM_001267550.2(TTN):c.6584A>G (p.Glu2195Gly) rs202032875 0.00023
NM_020975.6(RET):c.874G>A (p.Val292Met) rs34682185 0.00023
NM_000038.6(APC):c.7036C>T (p.Pro2346Ser) rs200756935 0.00022
NM_000077.5(CDKN2A):c.373G>C (p.Asp125His) rs146179135 0.00022
NM_000238.4(KCNH2):c.2941A>G (p.Ser981Gly) rs76649554 0.00022
NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser) rs41295288 0.00022
NM_001005242.3(PKP2):c.302G>A (p.Arg101His) rs149542398 0.00022
NM_001267550.2(TTN):c.107230A>G (p.Ile35744Val) rs142336788 0.00022
NM_002471.4(MYH6):c.4505G>A (p.Arg1502Gln) rs199936506 0.00022
NM_002471.4(MYH6):c.4772A>G (p.Asn1591Ser) rs200751434 0.00022
NM_000038.6(APC):c.3352A>G (p.Asn1118Asp) rs140493115 0.00021
NM_000256.3(MYBPC3):c.2728C>A (p.Pro910Thr) rs397515985 0.00021
NM_000719.7(CACNA1C):c.3946-12G>A rs41276706 0.00021
NM_004415.4(DSP):c.2422C>T (p.Arg808Cys) rs150339369 0.00021
NM_170707.4(LMNA):c.1017G>A (p.Ala339=) rs17847242 0.00021
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln) rs63750361 0.00020
NM_000256.3(MYBPC3):c.1813G>A (p.Asp605Asn) rs376736293 0.00020
NM_000540.3(RYR1):c.2822C>T (p.Ala941Val) rs748568687 0.00020
NM_001267550.2(TTN):c.63352C>T (p.Arg21118Trp) rs200726948 0.00020
NM_001267550.2(TTN):c.80555G>A (p.Arg26852His) rs202149931 0.00020
NM_133379.5(TTN):c.14327T>C (p.Leu4776Ser) rs142132973 0.00020
NM_000038.6(APC):c.3249T>G (p.Asp1083Glu) rs201629780 0.00019
NM_000059.4(BRCA2):c.6322C>T (p.Arg2108Cys) rs55794205 0.00019
NM_000337.6(SGCD):c.699+18C>G rs180898690 0.00019
NM_000337.6(SGCD):c.848A>G (p.Gln283Arg) rs397516338 0.00019
NM_000368.5(TSC1):c.1460C>G (p.Ser487Cys) rs118203532 0.00019
NM_000540.3(RYR1):c.89A>T (p.Glu30Val) rs145771708 0.00019
NM_001267550.2(TTN):c.105128G>A (p.Arg35043His) rs370137295 0.00019
NM_001267550.2(TTN):c.68437G>A (p.Glu22813Lys) rs200797552 0.00019
NM_001267550.2(TTN):c.89314G>A (p.Glu29772Lys) rs200503016 0.00019
NM_001267550.2(TTN):c.9338G>A (p.Arg3113His) rs141258018 0.00019
NM_002234.4(KCNA5):c.898G>A (p.Gly300Ser) rs148708451 0.00019
NM_002471.4(MYH6):c.824T>A (p.Ile275Asn) rs201327273 0.00019
NM_007294.4(BRCA1):c.1789G>A (p.Glu597Lys) rs55650082 0.00019
NM_007294.4(BRCA1):c.5005G>T (p.Ala1669Ser) rs80357087 0.00019
NM_014000.3(VCL):c.590C>T (p.Thr197Ile) rs189242810 0.00019
NM_000143.4(FH):c.883G>A (p.Ala295Thr) rs145843819 0.00018
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr) rs63749910 0.00018
NM_000335.5(SCN5A):c.5901C>G (p.Ile1967Met) rs199473333 0.00018
NM_000447.3(PSEN2):c.166G>A (p.Gly56Ser) rs188598190 0.00018
NM_001267550.2(TTN):c.32953C>T (p.Arg10985Trp) rs201991864 0.00018
NM_001267550.2(TTN):c.83618T>C (p.Val27873Ala) rs200775919 0.00018
NM_002234.4(KCNA5):c.251A>C (p.Glu84Ala) rs377036305 0.00018
NM_144997.7(FLCN):c.1523A>G (p.Lys508Arg) rs199643834 0.00018
NM_000038.6(APC):c.3479C>A (p.Thr1160Lys) rs201004111 0.00017
NM_000256.3(MYBPC3):c.624G>C (p.Gln208His) rs202139499 0.00017
NM_001267550.2(TTN):c.101708G>A (p.Arg33903His) rs72629782 0.00017
NM_001267550.2(TTN):c.1709C>T (p.Ala570Val) rs146690035 0.00017
NM_001267550.2(TTN):c.77848C>T (p.Leu25950Phe) rs376814602 0.00017
NM_000256.3(MYBPC3):c.2210C>T (p.Thr737Met) rs199893357 0.00016
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr) rs201343342 0.00016
NM_000719.7(CACNA1C):c.6344G>C (p.Gly2115Ala) rs199694744 0.00016
NM_001035.3(RYR2):c.2711A>G (p.Tyr904Cys) rs201131315 0.00016
NM_001105206.3(LAMA4):c.3175G>A (p.Val1059Met) rs373650093 0.00016
NM_001267550.2(TTN):c.54740T>C (p.Met18247Thr) rs200585270 0.00016
NM_001267550.2(TTN):c.92684G>A (p.Arg30895Gln) rs200141081 0.00016
NM_001267550.2(TTN):c.9857A>G (p.Lys3286Arg) rs200052398 0.00016
NM_002230.4(JUP):c.1172G>A (p.Ser391Asn) rs199826380 0.00016
NM_032578.4(MYPN):c.392G>T (p.Ser131Ile) rs199853307 0.00016
NM_000264.5(PTCH1):c.2485G>A (p.Val829Met) rs201125580 0.00015
NM_000540.3(RYR1):c.7902C>A (p.Asn2634Lys) rs148041292 0.00015
NM_000548.5(TSC2):c.1939G>A (p.Asp647Asn) rs45509392 0.00015
NM_000719.7(CACNA1C):c.5444+599C>A rs551355331 0.00015
NM_001042492.3(NF1):c.6929C>T (p.Pro2310Leu) rs148736217 0.00015
NM_001267550.2(TTN):c.14869A>C (p.Thr4957Pro) rs780405420 0.00015
NM_001267550.2(TTN):c.25877A>G (p.Asn8626Ser) rs200355367 0.00015
NM_001267550.2(TTN):c.56255C>T (p.Pro18752Leu) rs200132226 0.00015
NM_002471.4(MYH6):c.3195G>C (p.Gln1065His) rs267606904 0.00015
NM_006206.6(PDGFRA):c.2291G>A (p.Arg764His) rs141047712 0.00015
NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys) rs61094188 0.00015
NM_000251.3(MSH2):c.1748A>G (p.Asn583Ser) rs201118107 0.00014
NM_000264.5(PTCH1):c.2678G>A (p.Arg893His) rs138154222 0.00014
NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp) rs147320363 0.00014
NM_001005242.3(PKP2):c.1379-2066C>T rs373399921 0.00014
NM_001148.6(ANK2):c.2110C>G (p.Gln704Glu) rs139197937 0.00014
NM_001232.4(CASQ2):c.338G>A (p.Ser113Asn) rs199750975 0.00014
NM_001267550.2(TTN):c.3010G>A (p.Glu1004Lys) rs200902055 0.00014
NM_001267550.2(TTN):c.47936C>T (p.Pro15979Leu) rs184815126 0.00014
NM_001267550.2(TTN):c.9707C>T (p.Pro3236Leu) rs146199720 0.00014
NM_001927.4(DES):c.893C>T (p.Ser298Leu) rs62636491 0.00014
NM_001943.5(DSG2):c.430G>A (p.Glu144Lys) rs199842209 0.00014
NM_004100.5(EYA4):c.1418G>T (p.Gly473Val) rs146977269 0.00014
NM_005751.5(AKAP9):c.11714T>C (p.Met3905Thr) rs77447750 0.00014
NM_033118.4(MYLK2):c.134C>T (p.Pro45Leu) rs768640764 0.00014
NM_145046.5(CALR3):c.215G>A (p.Gly72Asp) rs182376945 0.00014
NM_201596.3(CACNB2):c.1696G>A (p.Ala566Thr) rs202218948 0.00014
NM_000222.3(KIT):c.2263G>A (p.Ala755Thr) rs201165084 0.00013
NM_000251.3(MSH2):c.2425G>A (p.Glu809Lys) rs202145681 0.00013
NM_000256.3(MYBPC3):c.3326C>T (p.Thr1109Ile) rs397516016 0.00013
NM_001035.3(RYR2):c.3251G>A (p.Arg1084Lys) rs193922624 0.00013
NM_001103.4(ACTN2):c.1040C>T (p.Thr347Met) rs727504590 0.00013
NM_001148.6(ANK2):c.11119G>A (p.Asp3707Asn) rs199549660 0.00013
NM_001148.6(ANK2):c.7436A>G (p.Lys2479Arg) rs201619005 0.00013
NM_001267550.2(TTN):c.103912C>T (p.Arg34638Cys) rs374444254 0.00013
NM_001267550.2(TTN):c.16480G>A (p.Gly5494Arg) rs727504697 0.00013
NM_001267550.2(TTN):c.35387C>A (p.Ala11796Glu) rs200321949 0.00013
NM_001267550.2(TTN):c.82810G>A (p.Gly27604Ser) rs199929362 0.00013
NM_001267550.2(TTN):c.86935G>A (p.Val28979Ile) rs201687390 0.00013
NM_001267550.2(TTN):c.89708C>G (p.Thr29903Ser) rs72648240 0.00013
NM_002471.4(MYH6):c.1252G>A (p.Val418Met) rs147606900 0.00013
NM_004415.4(DSP):c.3562T>C (p.Tyr1188His) rs141508330 0.00013
NM_024422.6(DSC2):c.734A>C (p.Glu245Ala) rs373201722 0.00013
NM_000038.6(APC):c.1631T>C (p.Ile544Thr) rs144056494 0.00012
NM_000038.6(APC):c.2204C>T (p.Ala735Val) rs147655929 0.00012
NM_000038.6(APC):c.5392A>G (p.Asn1798Asp) rs200794097 0.00012
NM_000038.6(APC):c.6873A>T (p.Gln2291His) rs148878262 0.00012
NM_000059.4(BRCA2):c.1889C>T (p.Thr630Ile) rs80358479 0.00012
NM_000368.5(TSC1):c.1001C>T (p.Ser334Leu) rs118203481 0.00012
NM_001105206.3(LAMA4):c.521A>G (p.Tyr174Cys) rs202131320 0.00012
NM_001267550.2(TTN):c.36737A>T (p.Glu12246Val) rs786205395 0.00012
NM_001267550.2(TTN):c.55655G>A (p.Arg18552His) rs201774108 0.00012
NM_001267550.2(TTN):c.57242T>C (p.Ile19081Thr) rs78509062 0.00012
NM_001267550.2(TTN):c.69338G>A (p.Arg23113Gln) rs370890454 0.00012
NM_001267550.2(TTN):c.82688G>A (p.Arg27563His) rs118079537 0.00012
NM_002234.4(KCNA5):c.701G>T (p.Arg234Leu) rs371521698 0.00012
NM_002471.4(MYH6):c.115G>A (p.Val39Met) rs142850511 0.00012
NM_003000.3(SDHB):c.403G>A (p.Val135Met) rs201585157 0.00012
NM_004415.4(DSP):c.3600T>G (p.Asn1200Lys) rs202049575 0.00012
NM_007294.4(BRCA1):c.1233T>G (p.Asp411Glu) rs80357024 0.00012
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala) rs80357467 0.00012
NM_032578.4(MYPN):c.3934C>T (p.Arg1312Trp) rs142354704 0.00012
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg) rs397516050 0.00011
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587 0.00011
NM_000368.5(TSC1):c.2075G>A (p.Arg692Gln) rs199755731 0.00011
NM_000548.5(TSC2):c.3827C>T (p.Ser1276Phe) rs45478595 0.00011
NM_001267550.2(TTN):c.100226G>A (p.Cys33409Tyr) rs201112096 0.00011
NM_001267550.2(TTN):c.28681G>A (p.Ala9561Thr) rs373380202 0.00011
NM_001267550.2(TTN):c.30598G>C (p.Glu10200Gln) rs779015756 0.00011
NM_001267550.2(TTN):c.45247C>T (p.Arg15083Trp) rs199834143 0.00011
NM_001267550.2(TTN):c.65746C>T (p.Arg21916Trp) rs200155485 0.00011
NM_001267550.2(TTN):c.68161G>A (p.Glu22721Lys) rs374492812 0.00011
NM_001267550.2(TTN):c.76673A>T (p.Asp25558Val) rs201095164 0.00011
NM_001267550.2(TTN):c.80553C>T (p.Phe26851=) rs189790119 0.00011
NM_001386795.1(DTNA):c.1652G>A (p.Arg551His) rs142108185 0.00011
NM_001943.5(DSG2):c.1478A>G (p.Asn493Ser) rs375679311 0.00011
NM_002230.4(JUP):c.352G>A (p.Glu118Lys) rs149004293 0.00011
NM_004281.4(BAG3):c.1321A>G (p.Asn441Asp) rs201181493 0.00011
NM_004281.4(BAG3):c.508C>T (p.Arg170Trp) rs200479768 0.00011
NM_004415.4(DSP):c.3646A>G (p.Ile1216Val) rs199795359 0.00011
NM_005477.3(HCN4):c.584C>T (p.Ala195Val) rs201375192 0.00011
NM_007294.4(BRCA1):c.3823A>G (p.Ile1275Val) rs80357280 0.00011
NM_024422.6(DSC2):c.1070G>A (p.Arg357His) rs201201194 0.00011
NM_133379.5(TTN):c.13412G>C (p.Gly4471Ala) rs145919543 0.00011
NM_133379.5(TTN):c.15608T>C (p.Ile5203Thr) rs200376564 0.00011
NM_000038.6(APC):c.388A>G (p.Ser130Gly) rs150973053 0.00010
NM_000249.4(MLH1):c.1964T>C (p.Ile655Thr) rs63751225 0.00010
NM_000264.5(PTCH1):c.4027G>A (p.Gly1343Arg) rs200100952 0.00010
NM_000540.3(RYR1):c.11599C>T (p.Arg3867Cys) rs138593495 0.00010
NM_001035.3(RYR2):c.13267A>C (p.Lys4423Gln) rs376908332 0.00010
NM_001148.6(ANK2):c.4220A>G (p.Lys1407Arg) rs200648573 0.00010
NM_001232.4(CASQ2):c.1186G>A (p.Asp396Asn) rs368007942 0.00010
NM_001267550.2(TTN):c.15086G>A (p.Arg5029Gln) rs200792058 0.00010
NM_001267550.2(TTN):c.266C>G (p.Ala89Gly) rs200165636 0.00010
NM_001267550.2(TTN):c.63917G>A (p.Arg21306His) rs202240487 0.00010
NM_001267550.2(TTN):c.6927T>A (p.Asn2309Lys) rs147580120 0.00010
NM_001267550.2(TTN):c.89018G>A (p.Arg29673Gln) rs200639218 0.00010
NM_001267550.2(TTN):c.91732G>A (p.Val30578Ile) rs727504672 0.00010
NM_002230.4(JUP):c.926A>G (p.Asn309Ser) rs140606359 0.00010
NM_002471.4(MYH6):c.3346C>A (p.Arg1116Ser) rs372446459 0.00010
NM_006206.6(PDGFRA):c.1099G>A (p.Val367Met) rs147982027 0.00010
NM_014000.3(VCL):c.688C>T (p.Arg230Cys) rs139312390 0.00010
NM_024334.3(TMEM43):c.169G>A (p.Ala57Thr) rs151010429 0.00010
NM_024422.6(DSC2):c.2314G>A (p.Val772Met) rs146029947 0.00010
NM_032578.4(MYPN):c.2864G>A (p.Arg955Gln) rs199476414 0.00010
NM_174934.4(SCN4B):c.617C>T (p.Ser206Leu) rs140348243 0.00010
NM_000059.4(BRCA2):c.6338A>G (p.Asn2113Ser) rs80358874 0.00009
NM_000222.3(KIT):c.1694G>T (p.Gly565Val) rs200945282 0.00009
NM_000245.4(MET):c.110T>C (p.Val37Ala) rs201315884 0.00009
NM_000249.4(MLH1):c.1808C>G (p.Pro603Arg) rs63750876 0.00009
NM_000256.3(MYBPC3):c.640G>A (p.Asp214Asn) rs769167548 0.00009
NM_000257.4(MYH7):c.2359C>T (p.Arg787Cys) rs145677314 0.00009
NM_000321.3(RB1):c.628G>T (p.Asp210Tyr) rs148992508 0.00009
NM_000335.5(SCN5A):c.2066G>A (p.Arg689His) rs199473145 0.00009
NM_000540.3(RYR1):c.10664A>T (p.Asn3555Ile) rs199689862 0.00009
NM_001032283.3(TMPO):c.565+1531C>T rs199943517 0.00009
NM_001035.3(RYR2):c.10680T>A (p.His3560Gln) rs727503404 0.00009
NM_001103.4(ACTN2):c.2659G>A (p.Ala887Thr) rs148972050 0.00009
NM_001267550.2(TTN):c.102428T>C (p.Met34143Thr) rs397517786 0.00009
NM_001267550.2(TTN):c.1585G>A (p.Ala529Thr) rs143030869 0.00009
NM_001267550.2(TTN):c.49070C>T (p.Ala16357Val) rs199768159 0.00009
NM_001267550.2(TTN):c.84965G>A (p.Arg28322His) rs373532064 0.00009
NM_001267550.2(TTN):c.88285A>G (p.Ile29429Val) rs373738818 0.00009
NM_001267550.2(TTN):c.92009T>C (p.Ile30670Thr) rs369342933 0.00009
NM_002230.4(JUP):c.1862T>C (p.Ile621Thr) rs752594411 0.00009
NM_002471.4(MYH6):c.421G>A (p.Ala141Thr) rs776853139 0.00009
NM_032578.4(MYPN):c.2260A>C (p.Ile754Leu) rs201245117 0.00009
NM_174934.4(SCN4B):c.22G>A (p.Gly8Ser) rs149868494 0.00009
NM_000021.4(PSEN1):c.998A>G (p.Asp333Gly) rs121917809 0.00008
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly) rs201375478 0.00008
NM_000218.3(KCNQ1):c.584G>A (p.Arg195Gln) rs138362632 0.00008
NM_000238.4(KCNH2):c.934C>T (p.Arg312Cys) rs199472885 0.00008
NM_000249.4(MLH1):c.1742C>T (p.Pro581Leu) rs63751684 0.00008
NM_000251.3(MSH2):c.4G>A (p.Ala2Thr) rs63750466 0.00008
NM_000335.5(SCN5A):c.2989G>A (p.Ala997Thr) rs137854609 0.00008
NM_000368.5(TSC1):c.851G>A (p.Arg284His) rs151309813 0.00008
NM_000540.3(RYR1):c.1661A>G (p.Glu554Gly) rs760285455 0.00008
NM_001042492.3(NF1):c.8105A>T (p.Tyr2702Phe) rs201824349 0.00008
NM_001267550.2(TTN):c.105416C>T (p.Thr35139Ile) rs200782068 0.00008
NM_001267550.2(TTN):c.34216C>A (p.Pro11406Thr) rs532102837 0.00008
NM_001267550.2(TTN):c.42839A>G (p.Asp14280Gly) rs181902304 0.00008
NM_001267550.2(TTN):c.55396G>A (p.Gly18466Arg) rs772677752 0.00008
NM_001267550.2(TTN):c.71944A>G (p.Asn23982Asp) rs199755820 0.00008
NM_001267550.2(TTN):c.88183T>C (p.Phe29395Leu) rs55940667 0.00008
NM_001267550.2(TTN):c.92806G>A (p.Val30936Ile) rs200476500 0.00008
NM_001267550.2(TTN):c.95320A>G (p.Lys31774Glu) rs762265902 0.00008
NM_007078.3(LDB3):c.715G>A (p.Val239Ile) rs201417512 0.00008
NM_007078.3(LDB3):c.887G>A (p.Arg296Gln) rs201689564 0.00008
NM_020975.6(RET):c.2611G>A (p.Val871Ile) rs145170911 0.00008
NM_133379.5(TTN):c.11809A>C (p.Lys3937Gln) rs562658562 0.00008
NM_133379.5(TTN):c.12449T>G (p.Leu4150Trp) rs201544975 0.00008
NM_133379.5(TTN):c.13799A>C (p.Glu4600Ala) rs200760091 0.00008
NM_000038.6(APC):c.7717A>G (p.Ile2573Val) rs145444830 0.00007
NM_000219.6(KCNE1):c.29C>T (p.Thr10Met) rs144917638 0.00007
NM_000335.5(SCN5A):c.1336G>A (p.Glu446Lys) rs199473339 0.00007
NM_000540.3(RYR1):c.2812G>A (p.Val938Met) rs369182023 0.00007
NM_000540.3(RYR1):c.6670C>T (p.Arg2224Cys) rs199870223 0.00007
NM_000540.3(RYR1):c.9800C>T (p.Pro3267Leu) rs200375946 0.00007
NM_000719.7(CACNA1C):c.6388G>A (p.Asp2130Asn) rs199473392 0.00007
NM_001005242.3(PKP2):c.2360A>G (p.Tyr787Cys) rs200411128 0.00007
NM_001035.3(RYR2):c.1396C>G (p.Pro466Ala) rs376612295 0.00007
NM_001105206.3(LAMA4):c.1858G>A (p.Ala620Thr) rs374001056 0.00007
NM_001267550.2(TTN):c.11996A>G (p.Asn3999Ser) rs199844346 0.00007
NM_001267550.2(TTN):c.27193T>C (p.Cys9065Arg) rs201229221 0.00007
NM_001267550.2(TTN):c.70042G>A (p.Ala23348Thr) rs775146212 0.00007
NM_001267550.2(TTN):c.70172T>C (p.Ile23391Thr) rs375202101 0.00007
NM_001267550.2(TTN):c.9363G>A (p.Met3121Ile) rs200413367 0.00007
NM_002230.4(JUP):c.526C>T (p.Arg176Trp) rs368336007 0.00007
NM_002234.4(KCNA5):c.464A>G (p.Tyr155Cys) rs202117321 0.00007
NM_002234.4(KCNA5):c.913G>A (p.Ala305Thr) rs199794307 0.00007
NM_002471.4(MYH6):c.3988G>A (p.Ala1330Thr) rs757840030 0.00007
NM_032578.4(MYPN):c.185A>C (p.Asp62Ala) rs370768715 0.00007
NM_000038.6(APC):c.7888G>A (p.Val2630Ile) rs199688874 0.00006
NM_000059.4(BRCA2):c.6325G>A (p.Val2109Ile) rs79456940 0.00006
NM_000222.3(KIT):c.910A>G (p.Thr304Ala) rs202052259 0.00006
NM_000238.4(KCNH2):c.2674C>T (p.Arg892Cys) rs201627778 0.00006
NM_000251.3(MSH2):c.944G>T (p.Gly315Val) rs202026056 0.00006
NM_000335.5(SCN5A):c.5452G>A (p.Asp1818Asn) rs137854619 0.00006
NM_000368.5(TSC1):c.1648C>G (p.Gln550Glu) rs118203553 0.00006
NM_000540.3(RYR1):c.10492C>G (p.Arg3498Gly) rs201358408 0.00006
NM_000540.3(RYR1):c.14901C>G (p.Asp4967Glu) rs201712715 0.00006
NM_000540.3(RYR1):c.14915C>T (p.Thr4972Ile) rs199866740 0.00006
NM_000540.3(RYR1):c.2956C>T (p.Arg986Cys) rs150993059 0.00006
NM_000540.3(RYR1):c.7487C>T (p.Pro2496Leu) rs193922817 0.00006
NM_000548.5(TSC2):c.5368G>A (p.Val1790Met) rs200140994 0.00006
NM_001005242.3(PKP2):c.1093A>G (p.Met365Val) rs143900944 0.00006
NM_001005242.3(PKP2):c.2171A>C (p.Lys724Thr) rs201487421 0.00006
NM_001032283.3(TMPO):c.887A>G (p.Asn296Ser) rs771589075 0.00006
NM_001105206.3(LAMA4):c.4168C>T (p.Arg1390Trp) rs200189282 0.00006
NM_001105206.3(LAMA4):c.5437G>A (p.Gly1813Ser) rs142048329 0.00006
NM_001148.6(ANK2):c.9916G>A (p.Val3306Ile) rs200922244 0.00006
NM_001267550.2(TTN):c.103412G>A (p.Arg34471Gln) rs149391616 0.00006
NM_001267550.2(TTN):c.103636C>T (p.Arg34546Cys) rs777626473 0.00006
NM_001267550.2(TTN):c.105490C>T (p.Arg35164Cys) rs200123047 0.00006
NM_001267550.2(TTN):c.107089G>C (p.Glu35697Gln) rs199531140 0.00006
NM_001267550.2(TTN):c.12821G>A (p.Ser4274Asn) rs200348414 0.00006
NM_001267550.2(TTN):c.17302G>A (p.Asp5768Asn) rs576904726 0.00006
NM_001267550.2(TTN):c.17869C>G (p.Gln5957Glu) rs201672969 0.00006
NM_001267550.2(TTN):c.39050A>G (p.Glu13017Gly) rs368056479 0.00006
NM_001267550.2(TTN):c.48595T>C (p.Ser16199Pro) rs752629624 0.00006
NM_001267550.2(TTN):c.48751G>A (p.Asp16251Asn) rs199954570 0.00006
NM_001267550.2(TTN):c.49367G>A (p.Arg16456His) rs768914789 0.00006
NM_001267550.2(TTN):c.5665G>T (p.Val1889Phe) rs141105443 0.00006
NM_001267550.2(TTN):c.63877G>A (p.Asp21293Asn) rs199505416 0.00006
NM_001267550.2(TTN):c.6713C>T (p.Thr2238Met) rs201284459 0.00006
NM_001267550.2(TTN):c.80944T>C (p.Phe26982Leu) rs200406978 0.00006
NM_001267550.2(TTN):c.81038G>A (p.Arg27013Gln) rs376374751 0.00006
NM_001267550.2(TTN):c.82405C>G (p.Pro27469Ala) rs769678793 0.00006
NM_001267550.2(TTN):c.94016C>T (p.Thr31339Ile) rs184078016 0.00006
NM_001267550.2(TTN):c.95078C>A (p.Ala31693Asp) rs2288326 0.00006
NM_001267550.2(TTN):c.9674A>G (p.Asn3225Ser) rs202011992 0.00006
NM_001267550.2(TTN):c.97331G>C (p.Arg32444Pro) rs184922462 0.00006
NM_001368067.1(LDB3):c.415G>A (p.Glu139Lys) rs374613600 0.00006
NM_002471.4(MYH6):c.1328G>A (p.Arg443His) rs202096001 0.00006
NM_004588.5(SCN2B):c.629C>T (p.Pro210Leu) rs144248214 0.00006
NM_005477.3(HCN4):c.3461G>A (p.Arg1154Gln) rs145862018 0.00006
NM_006206.6(PDGFRA):c.896T>C (p.Val299Ala) rs200033396 0.00006
NM_014000.3(VCL):c.404T>C (p.Ile135Thr) rs373744314 0.00006
NM_032578.4(MYPN):c.3440T>A (p.Ile1147Asn) rs201600440 0.00006
NM_033118.4(MYLK2):c.1700G>A (p.Arg567Lys) rs139331477 0.00006
NM_133379.5(TTN):c.13984A>G (p.Ile4662Val) rs374783099 0.00006
NM_133379.5(TTN):c.14295T>G (p.His4765Gln) rs140366460 0.00006
NM_133379.5(TTN):c.15227C>T (p.Pro5076Leu) rs201137248 0.00006
NM_000038.6(APC):c.2438A>G (p.Asn813Ser) rs201522866 0.00005
NM_000038.6(APC):c.4372C>T (p.Pro1458Ser) rs143796828 0.00005
NM_000059.4(BRCA2):c.5552T>G (p.Ile1851Ser) rs80358776 0.00005
NM_000264.5(PTCH1):c.2834G>A (p.Arg945Gln) rs201118857 0.00005
NM_000368.5(TSC1):c.2696C>G (p.Thr899Ser) rs76801599 0.00005
NM_000432.4(MYL2):c.433G>A (p.Asp145Asn) rs199567559 0.00005
NM_000548.5(TSC2):c.1340C>T (p.Ala447Val) rs45486591 0.00005
NM_000719.7(CACNA1C):c.3946-51C>T rs202216172 0.00005
NM_001005242.3(PKP2):c.1372A>G (p.Ile458Val) rs199571473 0.00005
NM_001032283.3(TMPO):c.565+1824C>G rs373861992 0.00005
NM_001035.3(RYR2):c.10699C>T (p.Arg3567Cys) rs559154874 0.00005
NM_001035.3(RYR2):c.13600C>T (p.Pro4534Ser) rs199624074 0.00005
NM_001103.4(ACTN2):c.2497G>A (p.Ala833Thr) rs200854335 0.00005
NM_001267550.2(TTN):c.36254A>G (p.Gln12085Arg) rs183220684 0.00005
NM_001267550.2(TTN):c.39941C>A (p.Thr13314Asn) rs543338451 0.00005
NM_001267550.2(TTN):c.4153G>A (p.Ala1385Thr) rs140760859 0.00005
NM_001267550.2(TTN):c.4321C>T (p.Arg1441Cys) rs146241078 0.00005
NM_001267550.2(TTN):c.54581G>A (p.Gly18194Asp) rs201802447 0.00005
NM_001267550.2(TTN):c.60932G>A (p.Arg20311Gln) rs373062007 0.00005
NM_001267550.2(TTN):c.63617T>C (p.Val21206Ala) rs370145029 0.00005
NM_001267550.2(TTN):c.67322A>G (p.Glu22441Gly) rs201223583 0.00005
NM_001267550.2(TTN):c.8788G>A (p.Val2930Ile) rs56373393 0.00005
NM_001368067.1(LDB3):c.346G>A (p.Ala116Thr) rs200458194 0.00005
NM_003239.5(TGFB3):c.559G>A (p.Gly187Ser) rs201063101 0.00005
NM_004415.4(DSP):c.8462C>T (p.Ser2821Leu) rs201826850 0.00005
NM_007078.3(LDB3):c.793C>T (p.Arg265Cys) rs45521338 0.00005
NM_024422.6(DSC2):c.835C>T (p.Arg279Cys) rs193922708 0.00005
NM_032578.4(MYPN):c.1858A>G (p.Thr620Ala) rs144031245 0.00005
NM_133379.5(TTN):c.14015C>T (p.Ala4672Val) rs551658963 0.00005
NM_133379.5(TTN):c.15349T>G (p.Tyr5117Asp) rs201308378 0.00005
NM_000038.6(APC):c.2297C>T (p.Ala766Val) rs200339830 0.00004
NM_000038.6(APC):c.317G>A (p.Arg106His) rs201764637 0.00004
NM_000143.4(FH):c.1421C>G (p.Thr474Arg) rs369802820 0.00004
NM_000143.4(FH):c.346A>T (p.Ile116Phe) rs201532589 0.00004
NM_000222.3(KIT):c.839C>T (p.Ala280Val) rs386833402 0.00004
NM_000238.4(KCNH2):c.2398+156G>A rs139247073 0.00004
NM_000245.4(MET):c.1019A>G (p.Asp340Gly) rs200690492 0.00004
NM_000335.5(SCN5A):c.1652C>T (p.Ala551Val) rs201641342 0.00004
NM_000335.5(SCN5A):c.1915G>A (p.Gly639Arg) rs199473136 0.00004
NM_000335.5(SCN5A):c.2102C>T (p.Pro701Leu) rs199473147 0.00004
NM_000447.3(PSEN2):c.1316A>C (p.Asp439Ala) rs63750110 0.00004
NM_000540.3(RYR1):c.11557G>A (p.Glu3853Lys) rs145087576 0.00004
NM_000540.3(RYR1):c.2467G>C (p.Glu823Gln) rs370490388 0.00004
NM_000540.3(RYR1):c.8305G>A (p.Asp2769Asn) rs566495420 0.00004
NM_001005242.3(PKP2):c.1238G>A (p.Arg413Gln) rs200715477 0.00004
NM_001005242.3(PKP2):c.464G>C (p.Ser155Thr) rs141438322 0.00004
NM_001032283.3(TMPO):c.565+1675A>G rs370366685 0.00004
NM_001032283.3(TMPO):c.856A>G (p.Met286Val) rs199594991 0.00004
NM_001035.3(RYR2):c.5923A>G (p.Met1975Val) rs200318013 0.00004
NM_001048174.2(MUTYH):c.1336C>T (p.Arg446Cys) rs200229669 0.00004
NM_001103.4(ACTN2):c.2552G>A (p.Arg851His) rs201335965 0.00004
NM_001267550.2(TTN):c.101236C>T (p.Arg33746Cys) rs199594729 0.00004
NM_001267550.2(TTN):c.102275G>A (p.Arg34092His) rs757918924 0.00004
NM_001267550.2(TTN):c.102827G>A (p.Arg34276Gln) rs199932621 0.00004
NM_001267550.2(TTN):c.14189G>A (p.Arg4730Gln) rs202017278 0.00004
NM_001267550.2(TTN):c.18628G>A (p.Val6210Ile) rs766360972 0.00004
NM_001267550.2(TTN):c.2358C>G (p.His786Gln) rs199507913 0.00004
NM_001267550.2(TTN):c.24107C>T (p.Ser8036Leu) rs200598509 0.00004
NM_001267550.2(TTN):c.24571G>A (p.Glu8191Lys) rs201326258 0.00004
NM_001267550.2(TTN):c.28465C>T (p.Arg9489Trp) rs200489972 0.00004
NM_001267550.2(TTN):c.39235G>A (p.Val13079Ile) rs777119867 0.00004
NM_001267550.2(TTN):c.45199G>A (p.Asp15067Asn) rs370904881 0.00004
NM_001267550.2(TTN):c.47089C>T (p.Arg15697Cys) rs780334981 0.00004
NM_001267550.2(TTN):c.5264A>G (p.Asn1755Ser) rs201904897 0.00004
NM_001267550.2(TTN):c.56686G>A (p.Val18896Met) rs370629962 0.00004
NM_001267550.2(TTN):c.6770C>G (p.Thr2257Ser) rs755999681 0.00004
NM_001267550.2(TTN):c.7619G>A (p.Arg2540His) rs397517725 0.00004
NM_001267550.2(TTN):c.80905G>A (p.Val26969Ile) rs377667066 0.00004
NM_001267550.2(TTN):c.92924C>A (p.Thr30975Lys) rs761971680 0.00004
NM_001267550.2(TTN):c.93968C>T (p.Ala31323Val) rs200345129 0.00004
NM_001267550.2(TTN):c.97441G>A (p.Gly32481Arg) rs111616037 0.00004
NM_001267550.2(TTN):c.98641C>T (p.Pro32881Ser) rs367979582 0.00004
NM_001267550.2(TTN):c.98759G>A (p.Arg32920Gln) rs752015224 0.00004
NM_001370259.2(MEN1):c.774G>C (p.Gln258His) rs374659656 0.00004
NM_001386795.1(DTNA):c.904G>A (p.Ala302Thr) rs199983981 0.00004
NM_001943.5(DSG2):c.1063G>A (p.Ala355Thr) rs201046640 0.00004
NM_001943.5(DSG2):c.1837G>A (p.Ala613Thr) rs368257724 0.00004
NM_001943.5(DSG2):c.3293C>G (p.Ser1098Cys) rs2848673 0.00004
NM_002230.4(JUP):c.2105G>A (p.Arg702His) rs200690479 0.00004
NM_002230.4(JUP):c.746C>T (p.Thr249Met) rs377612199 0.00004
NM_002234.4(KCNA5):c.551G>A (p.Arg184His) rs375080039 0.00004
NM_002471.4(MYH6):c.4822C>T (p.Arg1608Cys) rs201683868 0.00004
NM_004100.5(EYA4):c.1603A>G (p.Ile535Val) rs200300314 0.00004
NM_004281.4(BAG3):c.652C>T (p.Arg218Trp) rs397514506 0.00004
NM_005751.5(AKAP9):c.5543C>G (p.Ser1848Cys) rs189083857 0.00004
NM_006206.6(PDGFRA):c.1700C>T (p.Pro567Leu) rs201503614 0.00004
NM_006206.6(PDGFRA):c.2897A>G (p.His966Arg) rs200042995 0.00004
NM_007078.3(LDB3):c.764A>G (p.Lys255Arg) rs199739130 0.00004
NM_007294.4(BRCA1):c.425C>A (p.Pro142His) rs55971303 0.00004
NM_014000.3(VCL):c.1192C>T (p.Pro398Ser) rs201528612 0.00004
NM_014000.3(VCL):c.1607C>A (p.Pro536His) rs200624351 0.00004
NM_014391.3(ANKRD1):c.821A>G (p.Tyr274Cys) rs374486076 0.00004
NM_016599.5(MYOZ2):c.674C>T (p.Pro225Leu) rs200428820 0.00004
NM_017841.4(SDHAF2):c.52A>G (p.Arg18Gly) rs200911550 0.00004
NM_020297.4(ABCC9):c.287G>A (p.Arg96Gln) rs202103893 0.00004
NM_020975.6(RET):c.509C>T (p.Thr170Ile) rs200547906 0.00004
NM_024334.3(TMEM43):c.121A>G (p.Met41Val) rs144334386 0.00004
NM_024334.3(TMEM43):c.206C>T (p.Ser69Leu) rs369779779 0.00004
NM_024422.6(DSC2):c.2335G>A (p.Gly779Arg) rs139290300 0.00004
NM_133379.5(TTN):c.14526T>A (p.Asn4842Lys) rs776361113 0.00004
NM_133379.5(TTN):c.15130G>A (p.Glu5044Lys) rs201766148 0.00004
NM_201596.3(CACNB2):c.427G>A (p.Glu143Lys) rs368719191 0.00004
NM_000038.6(APC):c.1495C>G (p.Arg499Gly) rs137854580 0.00003
NM_000038.6(APC):c.379A>G (p.Ser127Gly) rs200089324 0.00003
NM_000038.6(APC):c.7415C>T (p.Ala2472Val) rs200399245 0.00003
NM_000059.4(BRCA2):c.1564G>C (p.Gly522Arg) rs80358442 0.00003
NM_000059.4(BRCA2):c.3581G>A (p.Gly1194Asp) rs28897721 0.00003
NM_000059.4(BRCA2):c.8917C>T (p.Arg2973Cys) rs45469092 0.00003
NM_000219.6(KCNE1):c.109A>G (p.Ser37Gly) rs202036483 0.00003
NM_000238.4(KCNH2):c.383A>G (p.Asn128Ser) rs200343670 0.00003
NM_000245.4(MET):c.1810C>G (p.Leu604Val) rs201861645 0.00003
NM_000245.4(MET):c.3356G>C (p.Gly1119Ala) rs201037977 0.00003
NM_000264.5(PTCH1):c.3247G>A (p.Val1083Met) rs202052415 0.00003
NM_000264.5(PTCH1):c.3890G>A (p.Arg1297Gln) rs386833412 0.00003
NM_000264.5(PTCH1):c.4171C>T (p.Arg1391Trp) rs45535032 0.00003
NM_000337.6(SGCD):c.-43-1G>A rs767016855 0.00003
NM_000337.6(SGCD):c.494G>A (p.Arg165Gln) rs727503423 0.00003
NM_000368.5(TSC1):c.3428C>T (p.Pro1143Leu) rs201867031 0.00003
NM_000447.3(PSEN2):c.1001C>G (p.Pro334Arg) rs63750207 0.00003
NM_000540.3(RYR1):c.1099C>T (p.Arg367Trp) rs140037232 0.00003
NM_000540.3(RYR1):c.8113G>A (p.Ala2705Thr) rs536813036 0.00003
NM_000540.3(RYR1):c.9347C>T (p.Ser3116Leu) rs200238436 0.00003
NM_000548.5(TSC2):c.5418T>G (p.Phe1806Leu) rs200004126 0.00003
NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg) rs374528680 0.00003
NM_001032283.3(TMPO):c.1177A>G (p.Lys393Glu) rs199545670 0.00003
NM_001042492.3(NF1):c.2585C>G (p.Thr862Ser) rs200302954 0.00003
NM_001105206.3(LAMA4):c.2912C>T (p.Ser971Phe) rs781856644 0.00003
NM_001105206.3(LAMA4):c.3585T>A (p.Asp1195Glu) rs786205410 0.00003
NM_001232.4(CASQ2):c.752G>A (p.Arg251His) rs200265771 0.00003
NM_001267550.2(TTN):c.14005G>A (p.Glu4669Lys) rs368543748 0.00003
NM_001267550.2(TTN):c.26177G>A (p.Cys8726Tyr) rs786205399 0.00003
NM_001267550.2(TTN):c.28262C>T (p.Thr9421Met) rs375209383 0.00003
NM_001267550.2(TTN):c.31735A>C (p.Lys10579Gln) rs376287951 0.00003
NM_001267550.2(TTN):c.32653A>T (p.Met10885Leu) rs200732179 0.00003
NM_001267550.2(TTN):c.34391A>G (p.Lys11464Arg) rs786205396 0.00003
NM_001267550.2(TTN):c.48118C>T (p.Arg16040Cys) rs774736458 0.00003
NM_001267550.2(TTN):c.49207T>C (p.Ser16403Pro) rs746009199 0.00003
NM_001267550.2(TTN):c.53755A>G (p.Thr17919Ala) rs199605903 0.00003
NM_001267550.2(TTN):c.6668A>T (p.His2223Leu) rs372979075 0.00003
NM_001267550.2(TTN):c.86654G>A (p.Arg28885His) rs371539720 0.00003
NM_001267550.2(TTN):c.88309G>A (p.Gly29437Ser) rs199916082 0.00003
NM_001267550.2(TTN):c.88787C>G (p.Thr29596Ser) rs786205371 0.00003
NM_001267550.2(TTN):c.98524G>A (p.Ala32842Thr) rs199647622 0.00003
NM_001386795.1(DTNA):c.1838C>T (p.Pro613Leu) rs145425478 0.00003
NM_001386795.1(DTNA):c.479G>A (p.Gly160Glu) rs201550119 0.00003
NM_001943.5(DSG2):c.1303G>A (p.Asp435Asn) rs370509593 0.00003
NM_001943.5(DSG2):c.3040G>A (p.Val1014Ile) rs200830807 0.00003
NM_002471.4(MYH6):c.3448G>A (p.Glu1150Lys) rs760399050 0.00003
NM_003673.4(TCAP):c.208C>T (p.Arg70Trp) rs775636212 0.00003
NM_004329.3(BMPR1A):c.1596C>G (p.Ile532Met) rs201345248 0.00003
NM_004360.5(CDH1):c.671G>A (p.Arg224His) rs201511530 0.00003
NM_004415.4(DSP):c.1630A>C (p.Met544Leu) rs201960323 0.00003
NM_004588.5(SCN2B):c.118G>A (p.Val40Ile) rs200761835 0.00003
NM_005751.5(AKAP9):c.1685A>G (p.His562Arg) rs145033147 0.00003
NM_005751.5(AKAP9):c.9577A>G (p.Arg3193Gly) rs199762211 0.00003
NM_005751.5(AKAP9):c.9830T>C (p.Ile3277Thr) rs144021475 0.00003
NM_007078.3(LDB3):c.1672A>G (p.Ile558Val) rs372331627 0.00003
NM_007294.4(BRCA1):c.4096+30C>T rs369055904 0.00003
NM_014391.3(ANKRD1):c.202G>A (p.Ala68Thr) rs200249746 0.00003
NM_014391.3(ANKRD1):c.328C>T (p.Pro110Ser) rs200061926 0.00003
NM_016599.5(MYOZ2):c.363C>A (p.Asp121Glu) rs754050093 0.00003
NM_020297.4(ABCC9):c.1981C>T (p.Arg661Cys) rs199499109 0.00003
NM_020297.4(ABCC9):c.3594G>A (p.Met1198Ile) rs199900459 0.00003
NM_024529.5(CDC73):c.1304T>C (p.Met435Thr) rs202209013 0.00003
NM_033118.4(MYLK2):c.194C>T (p.Thr65Ile) rs747109352 0.00003
NM_133379.5(TTN):c.16321C>T (p.Arg5441Ter) rs201273719 0.00003
NM_144997.7(FLCN):c.586A>G (p.Ile196Val) rs201078144 0.00003
NM_201596.3(CACNB2):c.104T>C (p.Leu35Pro) rs373263114 0.00003
NM_000038.6(APC):c.5225G>A (p.Arg1742His) rs199775075 0.00002
NM_000059.4(BRCA2):c.4779A>C (p.Glu1593Asp) rs80358703 0.00002
NM_000059.4(BRCA2):c.8687G>A (p.Arg2896His) rs80359128 0.00002
NM_000218.3(KCNQ1):c.590C>T (p.Pro197Leu) rs200108320 0.00002
NM_000251.3(MSH2):c.1717G>A (p.Ala573Thr) rs200766962 0.00002
NM_000257.4(MYH7):c.350A>T (p.Tyr117Phe) rs201012865 0.00002
NM_000335.5(SCN5A):c.1975C>T (p.Arg659Trp) rs730880205 0.00002
NM_000335.5(SCN5A):c.5213G>A (p.Arg1738Gln) rs200217157 0.00002
NM_000535.7(PMS2):c.2264T>C (p.Ile755Thr) rs386833410 0.00002
NM_000540.3(RYR1):c.10183C>T (p.Arg3395Trp) rs761996554 0.00002
NM_000719.7(CACNA1C):c.5329C>T (p.Arg1777Cys) rs775251529 0.00002
NM_001005242.3(PKP2):c.1045A>G (p.Met349Val) rs199957846 0.00002
NM_001035.3(RYR2):c.13712C>T (p.Thr4571Met) rs200803276 0.00002
NM_001035.3(RYR2):c.556G>A (p.Val186Met) rs201211033 0.00002
NM_001042492.3(NF1):c.847G>T (p.Asp283Tyr) rs200572531 0.00002
NM_001103.4(ACTN2):c.1594A>T (p.Met532Leu) rs200969588 0.00002
NM_001148.6(ANK2):c.2234A>G (p.Asn745Ser) rs786205263 0.00002
NM_001267550.2(TTN):c.12743A>C (p.Gln4248Pro) rs770583611 0.00002
NM_001267550.2(TTN):c.19535C>T (p.Ala6512Val) rs200902581 0.00002
NM_001267550.2(TTN):c.19995A>T (p.Glu6665Asp) rs146828735 0.00002
NM_001267550.2(TTN):c.2022A>C (p.Arg674Ser) rs180694107 0.00002
NM_001267550.2(TTN):c.2504C>A (p.Ala835Asp) rs200572298 0.00002
NM_001267550.2(TTN):c.28606C>A (p.Pro9536Thr) rs201121983 0.00002
NM_001267550.2(TTN):c.39673C>T (p.Pro13225Ser) rs202240398 0.00002
NM_001267550.2(TTN):c.48079C>T (p.Arg16027Cys) rs765032242 0.00002
NM_001267550.2(TTN):c.58351C>T (p.Arg19451Cys) rs763871350 0.00002
NM_001267550.2(TTN):c.61825C>T (p.Arg20609Cys) rs786205389 0.00002
NM_001267550.2(TTN):c.66386G>A (p.Arg22129His) rs187257105 0.00002
NM_001267550.2(TTN):c.67444C>T (p.Arg22482Trp) rs563233842 0.00002
NM_001267550.2(TTN):c.7057+2dup rs765019023 0.00002
NM_001267550.2(TTN):c.79213G>A (p.Val26405Ile) rs769972835 0.00002
NM_001267550.2(TTN):c.80858C>T (p.Thr26953Met) rs377506142 0.00002
NM_001267550.2(TTN):c.83785G>A (p.Gly27929Arg) rs786205297 0.00002
NM_001267550.2(TTN):c.8509A>T (p.Ser2837Cys) rs202024134 0.00002
NM_001267550.2(TTN):c.85624A>G (p.Ile28542Val) rs554841820 0.00002
NM_001267550.2(TTN):c.93167G>A (p.Arg31056Gln) rs201377736 0.00002
NM_001267550.2(TTN):c.99768G>T (p.Met33256Ile) rs752102823 0.00002
NM_001943.5(DSG2):c.86T>C (p.Leu29Ser) rs786205361 0.00002
NM_002230.4(JUP):c.1324A>T (p.Ile442Phe) rs142213474 0.00002
NM_002471.4(MYH6):c.121G>A (p.Asp41Asn) rs201161721 0.00002
NM_002471.4(MYH6):c.5135G>T (p.Ser1712Ile) rs201383498 0.00002
NM_002471.4(MYH6):c.731G>A (p.Arg244His) rs200645920 0.00002
NM_004100.5(EYA4):c.1685A>G (p.Tyr562Cys) rs199621266 0.00002
NM_004100.5(EYA4):c.233C>G (p.Thr78Arg) rs201644472 0.00002
NM_004100.5(EYA4):c.887C>T (p.Ser296Leu) rs755455584 0.00002
NM_004415.4(DSP):c.5324G>T (p.Arg1775Ile) rs34738426 0.00002
NM_004588.5(SCN2B):c.44C>T (p.Thr15Met) rs201373014 0.00002
NM_005477.3(HCN4):c.2194G>A (p.Gly732Ser) rs199530458 0.00002
NM_007294.4(BRCA1):c.2783G>A (p.Gly928Asp) rs202004680 0.00002
NM_020433.5(JPH2):c.1951A>G (p.Lys651Glu) rs778410296 0.00002
NM_024334.3(TMEM43):c.323T>C (p.Val108Ala) rs182351748 0.00002
NM_033118.4(MYLK2):c.226C>T (p.Pro76Ser) rs199791180 0.00002
NM_144997.7(FLCN):c.97G>C (p.Asp33His) rs386833401 0.00002
NM_000038.6(APC):c.2677G>A (p.Glu893Lys) rs199740875 0.00001
NM_000038.6(APC):c.695G>A (p.Arg232Gln) rs201727026 0.00001
NM_000038.6(APC):c.7766A>G (p.Glu2589Gly) rs200406572 0.00001
NM_000059.4(BRCA2):c.10111A>G (p.Thr3371Ala) rs80358393 0.00001
NM_000059.4(BRCA2):c.3562A>G (p.Ile1188Val) rs202230438 0.00001
NM_000059.4(BRCA2):c.964A>C (p.Lys322Gln) rs11571640 0.00001
NM_000143.4(FH):c.908T>C (p.Leu303Ser) rs201502246 0.00001
NM_000218.3(KCNQ1):c.721G>A (p.Val241Ile) rs199956744 0.00001
NM_000219.6(KCNE1):c.94C>T (p.Arg32Cys) rs200963514 0.00001
NM_000238.4(KCNH2):c.1330G>A (p.Glu444Lys) rs201268831 0.00001
NM_000238.4(KCNH2):c.3394C>G (p.Pro1132Ala) rs786205422 0.00001
NM_000245.4(MET):c.1232C>T (p.Ala411Val) rs201154533 0.00001
NM_000245.4(MET):c.199A>G (p.Thr67Ala) rs202047059 0.00001
NM_000245.4(MET):c.4151C>G (p.Ala1384Gly) rs202166889 0.00001
NM_000256.3(MYBPC3):c.2771C>T (p.Thr924Ile) rs200406864 0.00001
NM_000256.3(MYBPC3):c.3148G>A (p.Glu1050Lys) rs780449220 0.00001
NM_000256.3(MYBPC3):c.631G>A (p.Asp211Asn) rs773414747 0.00001
NM_000257.4(MYH7):c.2536G>C (p.Glu846Gln) rs730880748 0.00001
NM_000257.4(MYH7):c.3730A>C (p.Asn1244His) rs200746981 0.00001
NM_000257.4(MYH7):c.4321G>T (p.Ala1441Ser) rs745414245 0.00001
NM_000257.4(MYH7):c.4816C>T (p.Arg1606Cys) rs200530211 0.00001
NM_000257.4(MYH7):c.5500G>A (p.Ala1834Thr) rs143362532 0.00001
NM_000257.4(MYH7):c.5527A>G (p.Ser1843Gly) rs200157204 0.00001
NM_000268.4(NF2):c.983A>T (p.Glu328Val) rs200372028 0.00001
NM_000335.5(SCN5A):c.1873G>C (p.Glu625Gln) rs201552126 0.00001
NM_000335.5(SCN5A):c.1940C>T (p.Ala647Val) rs185638763 0.00001
NM_000335.5(SCN5A):c.5210C>T (p.Ser1737Phe) rs786205271 0.00001
NM_000335.5(SCN5A):c.73G>A (p.Glu25Lys) rs747251132 0.00001
NM_000368.5(TSC1):c.2066G>A (p.Arg689His) rs200827913 0.00001
NM_000432.4(MYL2):c.358C>G (p.Arg120Gly) rs397516404 0.00001
NM_000447.3(PSEN2):c.49C>T (p.Arg17Trp) rs199644116 0.00001
NM_000447.3(PSEN2):c.710C>T (p.Ala237Val) rs200670135 0.00001
NM_000535.7(PMS2):c.733C>A (p.Leu245Met) rs201375580 0.00001
NM_000540.3(RYR1):c.11731A>G (p.Thr3911Ala) rs200622493 0.00001
NM_000540.3(RYR1):c.14167C>T (p.Arg4723Cys) rs200473035 0.00001
NM_000540.3(RYR1):c.14189G>T (p.Gly4730Val) rs763466452 0.00001
NM_000540.3(RYR1):c.2173G>A (p.Val725Met) rs200698933 0.00001
NM_000540.3(RYR1):c.2255C>T (p.Pro752Leu) rs201229451 0.00001
NM_000540.3(RYR1):c.2461C>A (p.His821Asn) rs764127808 0.00001
NM_000540.3(RYR1):c.2533C>T (p.Leu845Phe) rs201545585 0.00001
NM_000540.3(RYR1):c.3431C>T (p.Pro1144Leu) rs201940876 0.00001
NM_000540.3(RYR1):c.376A>G (p.Met126Val) rs146065960 0.00001
NM_000540.3(RYR1):c.5980C>T (p.Arg1994Cys) rs369167120 0.00001
NM_000540.3(RYR1):c.6301A>G (p.Met2101Val) rs531823936 0.00001
NM_000540.3(RYR1):c.6607A>G (p.Met2203Val) rs200203904 0.00001
NM_000540.3(RYR1):c.6700C>T (p.Arg2234Cys) rs201465595 0.00001
NM_000548.5(TSC2):c.4046C>T (p.Ala1349Val) rs201979616 0.00001
NM_001032283.3(TMPO):c.1120C>A (p.Pro374Thr) rs778140094 0.00001
NM_001032283.3(TMPO):c.382G>A (p.Gly128Arg) rs200943582 0.00001
NM_001032283.3(TMPO):c.557A>G (p.Asn186Ser) rs200923649 0.00001
NM_001032283.3(TMPO):c.565+1305T>G rs201730568 0.00001
NM_001035.3(RYR2):c.1509C>A (p.Asp503Glu) rs764532025 0.00001
NM_001035.3(RYR2):c.2444C>T (p.Pro815Leu) rs537596448 0.00001
NM_001035.3(RYR2):c.7807G>A (p.Ala2603Thr) rs59331340 0.00001
NM_001042492.3(NF1):c.7394A>G (p.Asp2465Gly) rs143474365 0.00001
NM_001048174.2(MUTYH):c.167A>G (p.Tyr56Cys) rs200747973 0.00001
NM_001103.4(ACTN2):c.1312C>T (p.Arg438Trp) rs563171274 0.00001
NM_001103.4(ACTN2):c.1586A>G (p.Asn529Ser) rs200143657 0.00001
NM_001103.4(ACTN2):c.575G>A (p.Arg192Gln) rs200316891 0.00001
NM_001105206.3(LAMA4):c.2177A>T (p.Asp726Val) rs781823199 0.00001
NM_001105206.3(LAMA4):c.3026C>A (p.Ala1009Asp) rs199618820 0.00001
NM_001105206.3(LAMA4):c.3074A>G (p.Tyr1025Cys) rs370557242 0.00001
NM_001105206.3(LAMA4):c.4328C>T (p.Ala1443Val) rs782696599 0.00001
NM_001105206.3(LAMA4):c.4708G>T (p.Asp1570Tyr) rs199938033 0.00001
NM_001105206.3(LAMA4):c.676C>T (p.Pro226Ser) rs201820268 0.00001
NM_001105206.3(LAMA4):c.832T>C (p.Trp278Arg) rs201486893 0.00001
NM_001148.6(ANK2):c.11848G>A (p.Glu3950Lys) rs746413508 0.00001
NM_001148.6(ANK2):c.5134C>A (p.Gln1712Lys) rs201219746 0.00001
NM_001148.6(ANK2):c.5827G>A (p.Gly1943Arg) rs367592943 0.00001
NM_001148.6(ANK2):c.7532G>A (p.Arg2511Gln) rs142684331 0.00001
NM_001148.6(ANK2):c.8447G>A (p.Gly2816Asp) rs199538455 0.00001
NM_001232.4(CASQ2):c.1052A>G (p.Asp351Gly) rs200899037 0.00001
NM_001267550.2(TTN):c.100201A>G (p.Ile33401Val) rs786205294 0.00001
NM_001267550.2(TTN):c.100998C>G (p.Phe33666Leu) rs752263533 0.00001
NM_001267550.2(TTN):c.102325G>A (p.Ala34109Thr) rs786205293 0.00001
NM_001267550.2(TTN):c.106343G>A (p.Arg35448Gln) rs369703073 0.00001
NM_001267550.2(TTN):c.15544G>A (p.Gly5182Arg) rs775552018 0.00001
NM_001267550.2(TTN):c.15835A>G (p.Thr5279Ala) rs559795262 0.00001
NM_001267550.2(TTN):c.16063A>G (p.Ile5355Val) rs770774613 0.00001
NM_001267550.2(TTN):c.20327C>T (p.Ala6776Val) rs200031306 0.00001
NM_001267550.2(TTN):c.21172G>C (p.Gly7058Arg) rs786205401 0.00001
NM_001267550.2(TTN):c.2254C>T (p.Arg752Cys) rs200677631 0.00001
NM_001267550.2(TTN):c.23686G>A (p.Glu7896Lys) rs786205400 0.00001
NM_001267550.2(TTN):c.24302T>A (p.Ile8101Asn) rs200423910 0.00001
NM_001267550.2(TTN):c.27619T>G (p.Phe9207Val) rs765453217 0.00001
NM_001267550.2(TTN):c.2995C>T (p.Arg999Cys) rs142000511 0.00001
NM_001267550.2(TTN):c.35110A>G (p.Lys11704Glu) rs201275291 0.00001
NM_001267550.2(TTN):c.3616G>T (p.Ala1206Ser) rs200749662 0.00001
NM_001267550.2(TTN):c.36466G>C (p.Glu12156Gln) rs777085715 0.00001
NM_001267550.2(TTN):c.3737A>T (p.His1246Leu) rs201988645 0.00001
NM_001267550.2(TTN):c.37429A>G (p.Lys12477Glu) rs786205394 0.00001
NM_001267550.2(TTN):c.40214C>T (p.Pro13405Leu) rs201648893 0.00001
NM_001267550.2(TTN):c.40414C>A (p.Pro13472Thr) rs199705789 0.00001
NM_001267550.2(TTN):c.40639G>A (p.Glu13547Lys) rs200592069 0.00001
NM_001267550.2(TTN):c.4076A>G (p.Glu1359Gly) rs370978752 0.00001
NM_001267550.2(TTN):c.41423G>A (p.Arg13808His) rs764850788 0.00001
NM_001267550.2(TTN):c.42007C>T (p.Leu14003Phe) rs767585297 0.00001
NM_001267550.2(TTN):c.43290A>C (p.Glu14430Asp) rs531051064 0.00001
NM_001267550.2(TTN):c.43857T>G (p.Phe14619Leu) rs202179380 0.00001
NM_001267550.2(TTN):c.44732T>C (p.Ile14911Thr) rs754905274 0.00001
NM_001267550.2(TTN):c.52028A>T (p.Asp17343Val) rs201796622 0.00001
NM_001267550.2(TTN):c.52552C>T (p.Arg17518Cys) rs200974180 0.00001
NM_001267550.2(TTN):c.53708G>A (p.Arg17903His) rs755252821 0.00001
NM_001267550.2(TTN):c.54874G>C (p.Gly18292Arg) rs377512675 0.00001
NM_001267550.2(TTN):c.57376T>G (p.Trp19126Gly) rs201912036 0.00001
NM_001267550.2(TTN):c.57781G>A (p.Glu19261Lys) rs200311184 0.00001
NM_001267550.2(TTN):c.63095A>G (p.His21032Arg) rs767798579 0.00001
NM_001267550.2(TTN):c.63380G>A (p.Arg21127His) rs201226615 0.00001
NM_001267550.2(TTN):c.67280G>A (p.Arg22427Gln) rs770566210 0.00001
NM_001267550.2(TTN):c.68078C>T (p.Thr22693Met) rs758700425 0.00001
NM_001267550.2(TTN):c.72713C>T (p.Ser24238Leu) rs786205303 0.00001
NM_001267550.2(TTN):c.72803G>A (p.Arg24268His) rs140018785 0.00001
NM_001267550.2(TTN):c.7468C>T (p.Arg2490Cys) rs200131545 0.00001
NM_001267550.2(TTN):c.75982C>A (p.Pro25328Thr) rs201776072 0.00001
NM_001267550.2(TTN):c.76422G>T (p.Lys25474Asn) rs786205301 0.00001
NM_001267550.2(TTN):c.76538A>C (p.Asp25513Ala) rs200154082 0.00001
NM_001267550.2(TTN):c.79211C>T (p.Thr26404Ile) rs786205300 0.00001
NM_001267550.2(TTN):c.82154A>G (p.Glu27385Gly) rs745887048 0.00001
NM_001267550.2(TTN):c.83228G>A (p.Arg27743Gln) rs768262273 0.00001
NM_001267550.2(TTN):c.84187C>T (p.Arg28063Cys) rs539595292 0.00001
NM_001267550.2(TTN):c.86702G>A (p.Arg28901His) rs550229338 0.00001
NM_001267550.2(TTN):c.87496G>A (p.Gly29166Ser) rs200263009 0.00001
NM_001267550.2(TTN):c.89479C>A (p.Pro29827Thr) rs201620815 0.00001
NM_001267550.2(TTN):c.91570C>T (p.Pro30524Ser) rs199930508 0.00001
NM_001267550.2(TTN):c.93634G>A (p.Glu31212Lys) rs786205368 0.00001
NM_001267550.2(TTN):c.94373A>G (p.Glu31458Gly) rs763832963 0.00001
NM_001267550.2(TTN):c.96057T>A (p.Asp32019Glu) rs786205366 0.00001
NM_001267550.2(TTN):c.99016G>A (p.Glu33006Lys) rs201931674 0.00001
NM_001276345.2(TNNT2):c.752A>G (p.Tyr251Cys) rs200500421 0.00001
NM_001276345.2(TNNT2):c.775G>A (p.Asp259Asn) rs141805127 0.00001
NM_001370259.2(MEN1):c.1379G>A (p.Arg460Gln) rs200035619 0.00001
NM_001386795.1(DTNA):c.112G>A (p.Ala38Thr) rs200256996 0.00001
NM_001386795.1(DTNA):c.1695C>T (p.Ser565=) rs774966330 0.00001
NM_001386795.1(DTNA):c.295A>G (p.Thr99Ala) rs200736432 0.00001
NM_001927.4(DES):c.1361G>A (p.Arg454Gln) rs541585670 0.00001
NM_001927.4(DES):c.1404A>C (p.Glu468Asp) rs397516691 0.00001
NM_002230.4(JUP):c.335A>G (p.Asn112Ser) rs372364561 0.00001
NM_003000.3(SDHB):c.638T>C (p.Met213Thr) rs202014362 0.00001
NM_003001.5(SDHC):c.398G>A (p.Arg133Gln) rs386833414 0.00001
NM_003002.4(SDHD):c.400T>G (p.Leu134Val) rs200851392 0.00001
NM_003098.3(SNTA1):c.375G>C (p.Gln125His) rs201421292 0.00001
NM_003098.3(SNTA1):c.544G>A (p.Gly182Arg) rs201405395 0.00001
NM_003239.5(TGFB3):c.487C>T (p.Arg163Trp) rs142601521 0.00001
NM_003280.3(TNNC1):c.442A>G (p.Ile148Val) rs397516848 0.00001
NM_003673.4(TCAP):c.401C>A (p.Ala134Asp) rs786205287 0.00001
NM_004100.5(EYA4):c.2T>C (p.Met1Thr) rs200593099 0.00001
NM_004281.4(BAG3):c.1100C>G (p.Pro367Arg) rs786205347 0.00001
NM_004281.4(BAG3):c.368G>A (p.Arg123Gln) rs199991063 0.00001
NM_004360.5(CDH1):c.2077G>A (p.Gly693Ser) rs386833398 0.00001
NM_004415.4(DSP):c.386G>A (p.Arg129Gln) rs749155619 0.00001
NM_004415.4(DSP):c.5014C>G (p.Gln1672Glu) rs786205416 0.00001
NM_004415.4(DSP):c.5976C>A (p.Asp1992Glu) rs763921000 0.00001
NM_004415.4(DSP):c.7864A>G (p.Ile2622Val) rs752616130 0.00001
NM_004415.4(DSP):c.8495G>T (p.Gly2832Val) rs397516970 0.00001
NM_005477.3(HCN4):c.1459G>A (p.Val487Met) rs202037304 0.00001
NM_005477.3(HCN4):c.1840G>A (p.Glu614Lys) rs201319883 0.00001
NM_005477.3(HCN4):c.1896G>A (p.Met632Ile) rs200737571 0.00001
NM_005477.3(HCN4):c.2545G>T (p.Val849Leu) rs202138767 0.00001
NM_005751.5(AKAP9):c.10523G>A (p.Cys3508Tyr) rs750007670 0.00001
NM_005751.5(AKAP9):c.389C>G (p.Pro130Arg) rs200518712 0.00001
NM_005751.5(AKAP9):c.3950T>C (p.Ile1317Thr) rs199773513 0.00001
NM_005751.5(AKAP9):c.4156G>T (p.Val1386Phe) rs762293635 0.00001
NM_005751.5(AKAP9):c.5636T>C (p.Met1879Thr) rs776979647 0.00001
NM_006206.6(PDGFRA):c.3004G>T (p.Asp1002Tyr) rs200676118 0.00001
NM_007078.3(LDB3):c.1472T>A (p.Val491Glu) rs139709036 0.00001
NM_007078.3(LDB3):c.1736A>G (p.Tyr579Cys) rs199749907 0.00001
NM_007078.3(LDB3):c.254G>A (p.Arg85His) rs200420174 0.00001
NM_007078.3(LDB3):c.443G>A (p.Arg148Gln) rs751254270 0.00001
NM_007294.4(BRCA1):c.4520G>C (p.Arg1507Thr) rs80357470 0.00001
NM_007294.4(BRCA1):c.4903G>A (p.Glu1635Lys) rs200432771 0.00001
NM_014000.3(VCL):c.1798A>C (p.Ser600Arg) rs397517236 0.00001
NM_014000.3(VCL):c.2893C>T (p.Pro965Ser) rs749236817 0.00001
NM_014000.3(VCL):c.695T>A (p.Phe232Tyr) rs200956572 0.00001
NM_015141.4(GPD1L):c.383C>T (p.Pro128Leu) rs201900323 0.00001
NM_015141.4(GPD1L):c.415C>T (p.Arg139Cys) rs771369026 0.00001
NM_015141.4(GPD1L):c.925T>C (p.Tyr309His) rs201275703 0.00001
NM_016599.5(MYOZ2):c.666T>A (p.Phe222Leu) rs201971682 0.00001
NM_020297.4(ABCC9):c.2066C>T (p.Ser689Phe) rs200288646 0.00001
NM_020297.4(ABCC9):c.2215C>G (p.Pro739Ala) rs201223488 0.00001
NM_020297.4(ABCC9):c.2813G>A (p.Arg938Gln) rs201838439 0.00001
NM_020297.4(ABCC9):c.3955G>A (p.Val1319Ile) rs200499616 0.00001
NM_020297.4(ABCC9):c.4512+787A>G rs372859669 0.00001
NM_020433.5(JPH2):c.*15A>T rs561604738 0.00001
NM_020433.5(JPH2):c.1847G>T (p.Arg616Leu) rs200081425 0.00001
NM_020975.6(RET):c.2288A>T (p.Asn763Ile) rs199882293 0.00001
NM_020975.6(RET):c.2982A>C (p.Lys994Asn) rs199718928 0.00001
NM_024334.3(TMEM43):c.1090G>A (p.Val364Met) rs754236206 0.00001
NM_024334.3(TMEM43):c.164G>A (p.Gly55Asp) rs201453637 0.00001
NM_024334.3(TMEM43):c.218C>A (p.Ser73Tyr) rs200652985 0.00001
NM_032578.4(MYPN):c.2560T>A (p.Ser854Thr) rs200432306 0.00001
NM_032578.4(MYPN):c.2981T>C (p.Met994Thr) rs786205348 0.00001
NM_033118.4(MYLK2):c.116C>T (p.Pro39Leu) rs786205283 0.00001
NM_133379.5(TTN):c.10733A>G (p.Tyr3578Cys) rs200420921 0.00001
NM_133379.5(TTN):c.11834C>T (p.Ser3945Leu) rs200512885 0.00001
NM_133379.5(TTN):c.11956C>T (p.Arg3986Cys) rs200935937 0.00001
NM_133379.5(TTN):c.15386C>G (p.Thr5129Ser) rs201916135 0.00001
NM_133379.5(TTN):c.16019A>G (p.His5340Arg) rs201453356 0.00001
NM_133379.5(TTN):c.16256G>A (p.Cys5419Tyr) rs776179768 0.00001
NM_172201.2(KCNE2):c.357C>A (p.Phe119Leu) rs139202426 0.00001
NM_201596.3(CACNB2):c.1892A>G (p.Lys631Arg) rs200260399 0.00001
NM_000021.4(PSEN1):c.322C>T (p.Arg108Trp) rs200576075
NM_000038.6(APC):c.3462AGA[2] (p.Glu1157del) rs386833391
NM_000038.6(APC):c.3584T>C (p.Phe1195Ser) rs386833392
NM_000038.6(APC):c.420G>C (p.Glu140Asp) rs202161017
NM_000038.6(APC):c.4375_4377del (p.Thr1459del) rs386833393
NM_000038.6(APC):c.4384A>G (p.Lys1462Glu) rs202204285
NM_000038.6(APC):c.5170C>G (p.Leu1724Val) rs201415309
NM_000038.6(APC):c.53T>A (p.Met18Lys) rs200960071
NM_000038.6(APC):c.7757G>T (p.Ser2586Ile) rs199806334
NM_000038.6(APC):c.8459C>T (p.Thr2820Ile) rs200790804
NM_000059.4(BRCA2):c.1022G>T (p.Cys341Phe) rs80358403
NM_000059.4(BRCA2):c.4593A>T (p.Lys1531Asn) rs386833397
NM_000059.4(BRCA2):c.50C>T (p.Thr17Ile) rs386833396
NM_000059.4(BRCA2):c.5554G>T (p.Val1852Phe) rs80358777
NM_000059.4(BRCA2):c.5732A>T (p.Asp1911Val) rs200943373
NM_000059.4(BRCA2):c.8941G>A (p.Glu2981Lys) rs139052578
NM_000077.4:c.155G>A
NM_000077.4:c.35G>A
NM_000077.5(CDKN2A):c.150+76del rs386833399
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000179.3(MSH6):c.1099C>A (p.His367Asn) rs201193496
NM_000179.3(MSH6):c.1390A>T (p.Ile464Phe) rs201892477
NM_000179.3(MSH6):c.1618C>A (p.Leu540Ile) rs201996928
NM_000179.3(MSH6):c.3038A>C (p.Lys1013Thr) rs200837944
NM_000179.3(MSH6):c.3833C>G (p.Pro1278Arg) rs201191389
NM_000179.3(MSH6):c.4071_4074dup (p.Glu1359Ter) rs386833407
NM_000219.6(KCNE1):c.292C>T (p.Arg98Trp) rs199473362
NM_000222.3(KIT):c.1403C>T (p.Pro468Leu) rs200518498
NM_000222.3(KIT):c.484T>G (p.Phe162Val) rs201222895
NM_000222.3(KIT):c.776A>G (p.Tyr259Cys) rs200422460
NM_000245.4(MET):c.1048A>C (p.Lys350Gln) rs201191014
NM_000245.4(MET):c.1180C>A (p.His394Asn) rs201628326
NM_000245.4(MET):c.1237C>A (p.Arg413Ser) rs201980687
NM_000245.4(MET):c.1292T>C (p.Met431Thr) rs201789039
NM_000245.4(MET):c.1304G>A (p.Ser435Asn) rs199761604
NM_000245.4(MET):c.1306G>C (p.Glu436Gln) rs200740468
NM_000245.4(MET):c.1345G>A (p.Asp449Asn) rs200819547
NM_000245.4(MET):c.1392+5G>A rs386833405
NM_000245.4(MET):c.2383A>G (p.Asn795Asp) rs200633053
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys) rs63751194
NM_000251.3(MSH2):c.1271A>G (p.His424Arg) rs200429136
NM_000251.3(MSH2):c.1837A>C (p.Asn613His) rs200147804
NM_000251.3(MSH2):c.28C>A (p.Gln10Lys) rs63751099
NM_000256.3(MYBPC3):c.151G>T (p.Ala51Ser) rs534282225
NM_000256.3(MYBPC3):c.2148+6_2148+9del rs397515949
NM_000256.3(MYBPC3):c.2618C>T (p.Pro873Leu) rs371401403
NM_000256.3(MYBPC3):c.3229G>A (p.Ala1077Thr) rs397516009
NM_000256.3(MYBPC3):c.419C>T (p.Ala140Val) rs786205352
NM_000257.4(MYH7):c.2795T>C (p.Met932Thr) rs202097576
NM_000257.4(MYH7):c.3055A>G (p.Thr1019Ala) rs200714763
NM_000257.4(MYH7):c.3442G>A (p.Glu1148Lys) rs786205355
NM_000257.4(MYH7):c.3770A>G (p.Asn1257Ser) rs574005462
NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys) rs141764279
NM_000257.4(MYH7):c.4240C>A (p.Leu1414Met) rs201895208
NM_000257.4(MYH7):c.4707G>T (p.Lys1569Asn) rs199557822
NM_000257.4(MYH7):c.5494C>T (p.Arg1832Cys) rs201865159
NM_000257.4(MYH7):c.5503G>A (p.Glu1835Lys) rs758436258
NM_000264.5(PTCH1):c.2090T>G (p.Leu697Arg) rs199892130
NM_000264.5(PTCH1):c.306G>C (p.Leu102Phe) rs199522392
NM_000335.5(SCN5A):c.2423G>A (p.Arg808His) rs199473160
NM_000335.5(SCN5A):c.4591G>T (p.Val1531Phe) rs199473618
NM_000335.5(SCN5A):c.818T>C (p.Met273Thr) rs200076065
NM_000337.6(SGCD):c.268T>A (p.Tyr90Asn) rs786205286
NM_000363.5(TNNI3):c.233C>G (p.Thr78Ser) rs786205288
NM_000368.5(TSC1):c.121C>A (p.Leu41Ile) rs118203334
NM_000432.4(MYL2):c.308T>G (p.Phe103Cys) rs547860537
NM_000432.4(MYL2):c.431del (p.Pro144fs) rs786205430
NM_000447.3(PSEN2):c.1139C>A (p.Thr380Lys) rs143912759
NM_000447.3(PSEN2):c.205C>G (p.Pro69Ala) rs202133351
NM_000447.3(PSEN2):c.25A>G (p.Ser9Gly) rs786205285
NM_000535.7(PMS2):c.226GAA[2] (p.Glu78del) rs386833411
NM_000535.7(PMS2):c.2399C>T (p.Pro800Leu) rs200629542
NM_000535.7(PMS2):c.695G>A (p.Gly232Glu) rs201811667
NM_000535.7(PMS2):c.708G>T (p.Leu236Phe) rs201395630
NM_000535.7(PMS2):c.858C>A (p.Asp286Glu) rs201921616
NM_000540.3(RYR1):c.10046C>G (p.Ala3349Gly) rs199531105
NM_000540.3(RYR1):c.11049GGA[4] (p.Glu3689del) rs760784102
NM_000540.3(RYR1):c.1384G>A (p.Glu462Lys) rs199592055
NM_000540.3(RYR1):c.1474C>T (p.Arg492Cys) rs199826952
NM_000540.3(RYR1):c.14929G>C (p.Glu4977Gln) rs200777598
NM_000540.3(RYR1):c.15098A>G (p.Tyr5033Cys) rs201765762
NM_000540.3(RYR1):c.1753A>G (p.Ile585Val) rs200770015
NM_000540.3(RYR1):c.1808_1823del (p.Cys603fs) rs869312738
NM_000540.3(RYR1):c.2075C>T (p.Thr692Ile) rs869312735
NM_000540.3(RYR1):c.2697C>A (p.Asn899Lys) rs201401814
NM_000540.3(RYR1):c.2824G>A (p.Asp942Asn) rs869312736
NM_000540.3(RYR1):c.5308T>G (p.Ser1770Ala) rs571494344
NM_000540.3(RYR1):c.6191T>G (p.Met2064Arg) rs200388510
NM_000540.3(RYR1):c.6688A>T (p.Thr2230Ser) rs200630616
NM_000540.3(RYR1):c.7958A>G (p.Lys2653Arg) rs199864636
NM_000540.3(RYR1):c.8155T>C (p.Tyr2719His) rs200920798
NM_000540.3(RYR1):c.8231+1G>A rs869312737
NM_000546.6(TP53):c.31G>C (p.Glu11Gln) rs201382018
NM_000548.5(TSC2):c.1458C>G (p.Asn486Lys) rs200532154
NM_000548.5(TSC2):c.4584G>T (p.Glu1528Asp) rs199848388
NM_000548.5(TSC2):c.5026C>G (p.Leu1676Val) rs201707249
NM_000548.5(TSC2):c.922C>G (p.Arg308Gly) rs201144475
NM_000551.4(VHL):c.269A>G (p.Asn90Ser) rs143985153
NM_000719.7(CACNA1C):c.1031C>T (p.Thr344Ile) rs200935321
NM_000719.7(CACNA1C):c.1481+621C>T rs200329394
NM_000719.7(CACNA1C):c.2734C>A (p.Leu912Ile) rs786205264
NM_000719.7(CACNA1C):c.5408G>C (p.Arg1803Pro) rs201918158
NM_000891.3(KCNJ2):c.1217T>C (p.Ile406Thr) rs202149686
NM_000891.3(KCNJ2):c.884T>C (p.Val295Ala) rs201162707
NM_001005242.3(PKP2):c.2332A>T (p.Ile778Phe) rs145324631
NM_001005242.3(PKP2):c.2499C>A (p.His833Gln) rs202094467
NM_001018005.2(TPM1):c.381G>A (p.Met127Ile) rs201211957
NM_001018005.2(TPM1):c.563+266C>T rs201813515
NM_001032283.3(TMPO):c.331G>A (p.Asp111Asn) rs201838047
NM_001032283.3(TMPO):c.565+2439A>G rs200419485
NM_001035.3(RYR2):c.10528C>T (p.Arg3510Cys) rs201749277
NM_001035.3(RYR2):c.11126A>T (p.Glu3709Val) rs200013680
NM_001035.3(RYR2):c.136C>A (p.Leu46Ile) rs200643211
NM_001035.3(RYR2):c.4891C>T (p.His1631Tyr) rs786205423
NM_001035.3(RYR2):c.5652G>T (p.Lys1884Asn) rs202117250
NM_001035.3(RYR2):c.5657dup (p.Lys1887fs) rs786205273
NM_001035.3(RYR2):c.6689C>T (p.Ala2230Val) rs786205270
NM_001035.3(RYR2):c.8273A>G (p.Lys2758Arg) rs200053476
NM_001035.3(RYR2):c.9841T>G (p.Leu3281Val) rs786205424
NM_001040151.2(SCN3B):c.217C>A (p.Leu73Ile) rs786205425
NM_001042492.3(NF1):c.1814T>C (p.Ile605Thr) rs386833409
NM_001042492.3(NF1):c.3998A>G (p.Glu1333Gly) rs200618072
NM_001042492.3(NF1):c.6782A>G (p.His2261Arg) rs201336602
NM_001048174.2(MUTYH):c.28A>G (p.Ser10Gly) rs386833408
NM_001103.4(ACTN2):c.1358C>T (p.Ala453Val) rs566860712
NM_001103.4(ACTN2):c.1444C>T (p.Arg482Trp) rs199604590
NM_001103.4(ACTN2):c.1532T>C (p.Leu511Pro) rs786205346
NM_001103.4(ACTN2):c.2419G>C (p.Gly807Arg) rs200282066
NM_001105206.3(LAMA4):c.1087G>C (p.Ala363Pro) rs201431982
NM_001105206.3(LAMA4):c.195+71_195+73del rs786205414
NM_001105206.3(LAMA4):c.3029C>T (p.Thr1010Ile) rs201431614
NM_001105206.3(LAMA4):c.3322C>T (p.His1108Tyr) rs201660110
NM_001105206.3(LAMA4):c.5369C>T (p.Thr1790Ile) rs786205409
NM_001148.6(ANK2):c.*142GGA[1] rs786205419
NM_001148.6(ANK2):c.11683G>C (p.Val3895Leu) rs72556370
NM_001148.6(ANK2):c.2474C>T (p.Thr825Ile) rs786205420
NM_001148.6(ANK2):c.2902T>G (p.Phe968Val) rs786205421
NM_001148.6(ANK2):c.4408G>A (p.Asp1470Asn) rs564648496
NM_001148.6(ANK2):c.5806C>A (p.Arg1936Ser) rs201325557
NM_001148.6(ANK2):c.6055A>G (p.Lys2019Glu) rs199614634
NM_001148.6(ANK2):c.6533T>A (p.Phe2178Tyr) rs200115726
NM_001148.6(ANK2):c.7942G>C (p.Gly2648Arg) rs199828363
NM_001148.6(ANK2):c.8381A>G (p.Gln2794Arg) rs528909081
NM_001167623.2(CACNA1C):c.1165G>A (p.Val389Ile) rs202180580
NM_001232.4(CASQ2):c.1179TGA[3] (p.Asp398dup) rs786205267
NM_001232.4(CASQ2):c.1185_1187del (p.Asp398del) rs397516641
NM_001232.4(CASQ2):c.11C>T (p.Thr4Ile) rs200558909
NM_001267550.2(TTN):c.100883C>T (p.Thr33628Ile) rs200085900
NM_001267550.2(TTN):c.100982G>A (p.Arg33661Lys) rs201857158
NM_001267550.2(TTN):c.101280C>T (p.Phe33760=) rs786205364
NM_001267550.2(TTN):c.103921_103923del (p.Ser34641del) rs774574734
NM_001267550.2(TTN):c.103995C>G (p.Leu34665=) rs779452265
NM_001267550.2(TTN):c.104225G>A (p.Ser34742Asn) rs765636638
NM_001267550.2(TTN):c.105036C>T (p.Tyr35012=) rs786205292
NM_001267550.2(TTN):c.106028A>G (p.Glu35343Gly) rs201882514
NM_001267550.2(TTN):c.106467T>C (p.Leu35489=) rs786205319
NM_001267550.2(TTN):c.107017G>A (p.Gly35673Arg) rs786205290
NM_001267550.2(TTN):c.107215A>C (p.Asn35739His) rs786205327
NM_001267550.2(TTN):c.10770G>C (p.Glu3590Asp) rs377401997
NM_001267550.2(TTN):c.107971del (p.Ile35991fs) rs786205289
NM_001267550.2(TTN):c.11183dup (p.Leu3729fs) rs778172350
NM_001267550.2(TTN):c.12387G>C (p.Arg4129Ser) rs199546417
NM_001267550.2(TTN):c.13701T>G (p.Asp4567Glu) rs200422152
NM_001267550.2(TTN):c.15382T>G (p.Ser5128Ala) rs786205316
NM_001267550.2(TTN):c.1648G>T (p.Val550Leu) rs759126894
NM_001267550.2(TTN):c.16549T>G (p.Ser5517Ala) rs200520316
NM_001267550.2(TTN):c.18611A>C (p.Glu6204Ala) rs199603451
NM_001267550.2(TTN):c.20170G>T (p.Val6724Phe) rs140143513
NM_001267550.2(TTN):c.20624C>T (p.Ala6875Val) rs199875225
NM_001267550.2(TTN):c.21378A>C (p.Glu7126Asp) rs786205315
NM_001267550.2(TTN):c.21506A>G (p.Asn7169Ser) rs786205314
NM_001267550.2(TTN):c.23084C>T (p.Ala7695Val) rs201003628
NM_001267550.2(TTN):c.24713A>T (p.Tyr8238Phe) rs202193812
NM_001267550.2(TTN):c.27665C>T (p.Ala9222Val) rs786205313
NM_001267550.2(TTN):c.28196T>A (p.Phe9399Tyr) rs786205312
NM_001267550.2(TTN):c.30544C>T (p.Pro10182Ser) rs786205311
NM_001267550.2(TTN):c.31107A>T (p.Glu10369Asp) rs60513567
NM_001267550.2(TTN):c.31745C>T (p.Pro10582Leu) rs202027546
NM_001267550.2(TTN):c.3241G>T (p.Ala1081Ser) rs55914517
NM_001267550.2(TTN):c.33094+1G>A rs786205398
NM_001267550.2(TTN):c.33501AGA[4] (p.Glu11172del) rs368327166
NM_001267550.2(TTN):c.3476G>T (p.Arg1159Leu) rs149883066
NM_001267550.2(TTN):c.36044C>G (p.Thr12015Arg) rs199868380
NM_001267550.2(TTN):c.36470T>A (p.Val12157Glu) rs199955429
NM_001267550.2(TTN):c.38131G>T (p.Val12711Leu) rs202075225
NM_001267550.2(TTN):c.38182A>G (p.Lys12728Glu) rs786205309
NM_001267550.2(TTN):c.40222+2TA[9] rs10580462
NM_001267550.2(TTN):c.42321T>A (p.His14107Gln) rs786205308
NM_001267550.2(TTN):c.44815+2dup rs786205392
NM_001267550.2(TTN):c.44824G>A (p.Val14942Met) rs786205391
NM_001267550.2(TTN):c.45044T>A (p.Val15015Glu) rs786205390
NM_001267550.2(TTN):c.454A>G (p.Ile152Val) rs786205406
NM_001267550.2(TTN):c.4727A>C (p.Lys1576Thr) rs201686366
NM_001267550.2(TTN):c.5419C>A (p.Pro1807Thr) rs200563229
NM_001267550.2(TTN):c.5479G>A (p.Ala1827Thr) rs141213991
NM_001267550.2(TTN):c.5762T>C (p.Ile1921Thr) rs786205318
NM_001267550.2(TTN):c.5855A>G (p.His1952Arg) rs572691153
NM_001267550.2(TTN):c.59401G>A (p.Gly19801Ser) rs786205306
NM_001267550.2(TTN):c.59788A>G (p.Thr19930Ala) rs200290906
NM_001267550.2(TTN):c.6172A>G (p.Lys2058Glu) rs786205405
NM_001267550.2(TTN):c.62755T>C (p.Leu20919=) rs786205388
NM_001267550.2(TTN):c.63703A>C (p.Asn21235His) rs786205305
NM_001267550.2(TTN):c.64183G>T (p.Gly21395Cys) rs199863338
NM_001267550.2(TTN):c.64671G>A (p.Met21557Ile) rs786205387
NM_001267550.2(TTN):c.65533C>T (p.Pro21845Ser) rs786205386
NM_001267550.2(TTN):c.65800T>G (p.Tyr21934Asp) rs786205385
NM_001267550.2(TTN):c.66215T>G (p.Met22072Arg) rs201420486
NM_001267550.2(TTN):c.66936A>T (p.Ser22312=) rs786205384
NM_001267550.2(TTN):c.68065A>G (p.Asn22689Asp) rs786205382
NM_001267550.2(TTN):c.68824+1G>A rs112484439
NM_001267550.2(TTN):c.69650A>C (p.Glu23217Ala) rs72646884
NM_001267550.2(TTN):c.70979G>A (p.Arg23660Gln) rs570979108
NM_001267550.2(TTN):c.72180A>G (p.Thr24060=) rs786205320
NM_001267550.2(TTN):c.72594G>A (p.Met24198Ile) rs786205304
NM_001267550.2(TTN):c.72823A>T (p.Lys24275Ter) rs786205380
NM_001267550.2(TTN):c.73004C>T (p.Thr24335Ile) rs766442878
NM_001267550.2(TTN):c.73243G>C (p.Gly24415Arg) rs761774167
NM_001267550.2(TTN):c.74859C>T (p.Ile24953=) rs786205302
NM_001267550.2(TTN):c.7548G>C (p.Lys2516Asn) rs200973013
NM_001267550.2(TTN):c.78021G>A (p.Met26007Ile) rs786205378
NM_001267550.2(TTN):c.80220A>G (p.Thr26740=) rs786205299
NM_001267550.2(TTN):c.81868G>C (p.Gly27290Arg) rs786205377
NM_001267550.2(TTN):c.81897C>T (p.Ile27299=) rs786205376
NM_001267550.2(TTN):c.81937G>A (p.Gly27313Arg) rs786205298
NM_001267550.2(TTN):c.82235C>A (p.Thr27412Lys) rs201489661
NM_001267550.2(TTN):c.82580T>C (p.Leu27527Pro) rs202169004
NM_001267550.2(TTN):c.82609G>T (p.Gly27537Cys) rs786205375
NM_001267550.2(TTN):c.83851G>C (p.Gly27951Arg) rs786205374
NM_001267550.2(TTN):c.86683G>A (p.Val28895Met) rs201290358
NM_001267550.2(TTN):c.86740A>T (p.Ile28914Phe) rs786205373
NM_001267550.2(TTN):c.90522A>G (p.Glu30174=) rs786205321
NM_001267550.2(TTN):c.90756_90758del (p.Asn30252_Gly30253delinsLys) rs786205370
NM_001267550.2(TTN):c.94168G>A (p.Gly31390Ser) rs201188767
NM_001267550.2(TTN):c.95018C>T (p.Ala31673Val) rs200920551
NM_001267550.2(TTN):c.95186G>C (p.Trp31729Ser) rs786205367
NM_001267550.2(TTN):c.95727C>T (p.Thr31909=) rs786205296
NM_001267550.2(TTN):c.96037G>C (p.Asp32013His) rs201349962
NM_001267550.2(TTN):c.9691C>T (p.Leu3231Phe) rs786205404
NM_001267550.2(TTN):c.98512G>C (p.Val32838Leu) rs200318160
NM_001267550.2(TTN):c.98893G>C (p.Asp32965His) rs186405108
NM_001267550.2(TTN):c.99070T>G (p.Cys33024Gly) rs200744054
NM_001267550.2(TTN):c.99101G>C (p.Trp33034Ser) rs786205365
NM_001276345.2(TNNT2):c.430C>T (p.Arg144Trp) rs45525839
NM_001276345.2(TNNT2):c.564G>C (p.Leu188Phe) rs201270895
NM_001370259.2(MEN1):c.1522C>G (p.Gln508Glu) rs386833403
NM_001370259.2(MEN1):c.341G>T (p.Ser114Ile) rs386833404
NM_001386795.1(DTNA):c.1766G>A (p.Arg589His) rs200246467
NM_001386795.1(DTNA):c.1877G>A (p.Gly626Glu) rs200805008
NM_001927.4(DES):c.1133A>C (p.Lys378Thr) rs202010947
NM_001943.5(DSG2):c.1346T>G (p.Leu449Arg) rs786205363
NM_001943.5(DSG2):c.1460T>C (p.Ile487Thr) rs776525113
NM_001943.5(DSG2):c.3175T>A (p.Ser1059Thr) rs201786158
NM_001943.5(DSG2):c.3266G>T (p.Gly1089Val) rs200264407
NM_001943.5(DSG2):c.704A>G (p.Tyr235Cys) rs786205362
NM_001943.5(DSG2):c.841G>A (p.Val281Ile) rs201005720
NM_002230.4(JUP):c.941C>G (p.Ala314Gly) rs201214805
NM_002234.4(KCNA5):c.966C>G (p.Asp322Glu) rs199525305
NM_002471.4(MYH6):c.1716dup (p.Lys573fs) rs786205354
NM_002471.4(MYH6):c.2575G>T (p.Gly859Trp) rs369274077
NM_002471.4(MYH6):c.3817A>T (p.Asn1273Tyr) rs200503588
NM_002471.4(MYH6):c.4026C>A (p.Cys1342Ter) rs141062252
NM_002471.4(MYH6):c.4429C>T (p.Arg1477Cys) rs201989347
NM_002471.4(MYH6):c.5140C>T (p.Arg1714Trp) rs140651265
NM_003098.3(SNTA1):c.1057C>G (p.Pro353Ala) rs786205427
NM_003098.3(SNTA1):c.1330G>A (p.Val444Met) rs201571071
NM_003098.3(SNTA1):c.1498C>T (p.Arg500Cys) rs786205426
NM_003098.3(SNTA1):c.460G>A (p.Val154Ile) rs200241523
NM_003098.3(SNTA1):c.845T>A (p.Leu282Gln) rs200878531
NM_004100.5(EYA4):c.215A>G (p.Asn72Ser) rs200688814
NM_004100.5(EYA4):c.563A>G (p.Tyr188Cys) rs200624669
NM_004100.5(EYA4):c.978C>G (p.Phe326Leu) rs773095472
NM_004281.4(BAG3):c.1172C>T (p.Ala391Val) rs200242752
NM_004281.4(BAG3):c.616A>G (p.Ile206Val) rs199700646
NM_004281.4(BAG3):c.646G>T (p.Val216Phe) rs148282376
NM_004360.5(CDH1):c.1789C>T (p.Pro597Ser) rs201625049
NM_004415.4(DSP):c.1942G>T (p.Asp648Tyr) rs200409452
NM_004415.4(DSP):c.2958G>T (p.Gln986His) rs786205415
NM_004415.4(DSP):c.3221C>A (p.Ala1074Glu) rs745849763
NM_004415.4(DSP):c.4973C>T (p.Ser1658Phe) rs202084959
NM_004415.4(DSP):c.7021G>A (p.Asp2341Asn) rs200314271
NM_004415.4(DSP):c.7817G>A (p.Ser2606Asn) rs199597935
NM_004415.4(DSP):c.8347A>G (p.Ile2783Val) rs786205417
NM_005472.5(KCNE3):c.215T>G (p.Val72Gly) rs202036216
NM_005477.3(HCN4):c.1209+2_1209+3insGTGA rs786205418
NM_005477.3(HCN4):c.3502_3505del (p.Phe1168fs) rs786205259
NM_005477.3(HCN4):c.569T>A (p.Val190Glu) rs786205269
NM_005751.5(AKAP9):c.1742C>A (p.Ser581Tyr) rs786205260
NM_005751.5(AKAP9):c.5234T>C (p.Val1745Ala) rs201632145
NM_005751.5(AKAP9):c.5534A>G (p.Asn1845Ser) rs786205261
NM_005751.5(AKAP9):c.5827G>T (p.Asp1943Tyr) rs201144675
NM_005751.5(AKAP9):c.7773A>C (p.Gln2591His) rs553800160
NM_005751.5(AKAP9):c.7921AAG[1] (p.Lys2642del) rs786205262
NM_005751.5(AKAP9):c.8894A>G (p.Tyr2965Cys) rs201958512
NM_007294.4(BRCA1):c.1849A>G (p.Thr617Ala) rs45564238
NM_007294.4(BRCA1):c.3783A>T (p.Leu1261Phe) rs80356831
NM_007294.4(BRCA1):c.3962C>G (p.Ser1321Cys) rs386833394
NM_007294.4(BRCA1):c.4414C>T (p.Leu1472Phe) rs200582930
NM_007294.4(BRCA1):c.5113C>G (p.Leu1705Val) rs80356858
NM_014000.3(VCL):c.1157A>G (p.Lys386Arg) rs200342284
NM_014000.3(VCL):c.1198G>T (p.Gly400Cys) rs201361282
NM_014000.3(VCL):c.1225C>T (p.Arg409Ter) rs202005455
NM_014391.3(ANKRD1):c.316G>A (p.Val106Ile) rs201056963
NM_015141.4(GPD1L):c.805G>A (p.Gly269Arg) rs786205268
NM_016599.5(MYOZ2):c.302C>A (p.Ser101Ter) rs138061447
NM_016599.5(MYOZ2):c.447A>T (p.Gln149His) rs200077093
NM_020297.4(ABCC9):c.3299C>T (p.Thr1100Ile) rs201358406
NM_020297.4(ABCC9):c.406+2111C>G rs786205274
NM_020630.4:c.*750+d611T>C
NM_020975.6(RET):c.2543T>A (p.Met848Lys) rs201101792
NM_024334.3(TMEM43):c.296A>G (p.Lys99Arg) rs199943048
NM_024422.6(DSC2):c.1707C>A (p.Asp569Glu) rs201517977
NM_024422.6(DSC2):c.2509-111_2509-110del rs786205428
NM_032578.4(MYPN):c.1238T>C (p.Ile413Thr) rs201225230
NM_032578.4(MYPN):c.2042C>T (p.Pro681Leu) rs202084832
NM_032578.4(MYPN):c.2756G>A (p.Arg919His) rs193022869
NM_032578.4(MYPN):c.3335C>A (p.Pro1112His) rs71534278
NM_032578.4(MYPN):c.662A>T (p.Asp221Val) rs185841477
NM_033118.4(MYLK2):c.552C>A (p.Ser184Arg) rs786205284
NM_033118.4(MYLK2):c.623G>A (p.Gly208Glu) rs786205407
NM_033337.3(CAV3):c.294C>A (p.Cys98Ter) rs200202503
NM_058195.4(CDKN2A):c.184A>G (p.Arg62Gly) rs386833400
NM_133378.4(TTN):c.37385_37387delAAG rs759525338
NM_133379.5(TTN):c.11942A>G (p.Asp3981Gly) rs201757429
NM_133379.5(TTN):c.13241C>T (p.Ala4414Val) rs201899491
NM_133379.5(TTN):c.13978C>T (p.His4660Tyr) rs786205403
NM_133379.5(TTN):c.14536C>A (p.Gln4846Lys) rs200192023
NM_133379.5(TTN):c.14844_14845del (p.Val4948_Tyr4949insTer) rs786205402
NM_133379.5(TTN):c.16679C>G (p.Thr5560Ser) rs757811601
NM_145046.5(CALR3):c.189T>G (p.Asp63Glu) rs201304731
NM_170707.4(LMNA):c.730G>A (p.Ala244Thr) rs201866557
NM_174934.4(SCN4B):c.112G>C (p.Ala38Pro) rs777894412
NM_201596.3(CACNB2):c.1093G>T (p.Ala365Ser) rs371232673
NM_201596.3(CACNB2):c.1206+4_1206+7dup rs1456201116
NM_201596.3(CACNB2):c.1558C>G (p.Pro520Ala) rs200297403
NM_201596.3(CACNB2):c.1816C>T (p.Arg606Trp) rs61733968
NM_201596.3(CACNB2):c.214-839_214-837del rs786205265
NM_201596.3(CACNB2):c.359G>A (p.Arg120Gln) rs202220375
NM_201596.3(CACNB2):c.824A>G (p.Tyr275Cys) rs200826317

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