ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Ambry Genetics and "likely benign" from GeneDx

Minimum review status of the submission from Ambry Genetics: Collection method of the submission from Ambry Genetics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 842
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HGVS dbSNP gnomAD frequency
NM_000266.4(NDP):c.*14G>A rs73475744 0.00365
NM_000384.3(APOB):c.905-16A>C rs12720810 0.00172
NM_001367624.2(ZNF469):c.751C>A (p.Pro251Thr) rs540655479 0.00166
NM_001365276.2(TNXB):c.2945C>T (p.Thr982Ile) rs199569974 0.00146
NM_000235.4(LIPA):c.754A>T (p.Ile252Leu) rs147493628 0.00140
NM_000152.5(GAA):c.1352C>G (p.Pro451Arg) rs7215458 0.00133
NM_006270.5(RRAS):c.568G>C (p.Val190Leu) rs2230917 0.00128
NM_030770.4(TMPRSS5):c.1190G>A (p.Arg397Lys) rs200404888 0.00123
NM_001079802.2(FKTN):c.166-4A>G rs193922689 0.00119
NM_013266.4(CTNNA3):c.1936C>T (p.Arg646Cys) rs111425421 0.00116
NM_018429.3(BDP1):c.2788G>A (p.Glu930Lys) rs200304584 0.00116
NM_001267550.2(TTN):c.32186C>T (p.Thr10729Met) rs115119858 0.00112
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp) rs201043950 0.00106
NM_005379.4(MYO1A):c.2341A>G (p.Lys781Glu) rs144384395 0.00103
NM_021167.5(GATAD1):c.96T>G (p.His32Gln) rs532003876 0.00099
NM_001080779.2(MYO1C):c.1241C>T (p.Thr414Ile) rs143802377 0.00091
NM_001267550.2(TTN):c.96098G>A (p.Arg32033His) rs200648462 0.00090
NM_002907.4(RECQL):c.1631A>T (p.Lys544Met) rs74067193 0.00086
NM_001365276.2(TNXB):c.7486G>A (p.Val2496Met) rs182362312 0.00084
NM_001267550.2(TTN):c.23302G>A (p.Asp7768Asn) rs72648973 0.00082
NM_020433.5(JPH2):c.1424G>A (p.Arg475His) rs765754956 0.00079
NM_018429.3(BDP1):c.7036G>C (p.Gly2346Arg) rs200098601 0.00074
NM_014908.4(DOLK):c.671A>T (p.Asp224Val) rs17485436 0.00070
NM_001079855.2(GYG2):c.584C>T (p.Thr195Met) rs143109649 0.00068
NM_001367624.2(ZNF469):c.5006C>T (p.Ala1669Val) rs200070902 0.00066
NM_033118.4(MYLK2):c.524C>A (p.Thr175Asn) rs202084078 0.00066
NM_002160.4(TNC):c.2641T>G (p.Ser881Ala) rs61737739 0.00065
NM_001032283.3(TMPO):c.565+2149C>T rs34150443 0.00064
NM_001267550.2(TTN):c.54710T>C (p.Leu18237Pro) rs201412693 0.00063
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp) rs36210422 0.00061
NM_001267550.2(TTN):c.83516G>A (p.Arg27839Gln) rs376820301 0.00061
NM_080473.5(GATA5):c.287C>G (p.Ala96Gly) rs113823160 0.00056
NM_001365276.2(TNXB):c.6367G>A (p.Asp2123Asn) rs201764050 0.00054
NM_001379200.1(TBX1):c.238C>G (p.Pro80Ala) rs952890575 0.00052
NM_002160.4(TNC):c.4543A>G (p.Ile1515Val) rs138049593 0.00052
NM_007078.3(LDB3):c.1312A>G (p.Thr438Ala) rs111941389 0.00051
NM_016492.5(RANGRF):c.172G>A (p.Val58Ile) rs147679793 0.00051
NM_000784.4(CYP27A1):c.276C>T (p.Tyr92=) rs141519183 0.00050
NM_001267550.2(TTN):c.39466C>A (p.Pro13156Thr) rs72650064 0.00050
NM_004568.6(SERPINB6):c.314C>A (p.Ser105Tyr) rs148530934 0.00050
NM_001105206.3(LAMA4):c.*1C>T rs148811960 0.00048
NM_001135022.2(ELMOD3):c.338C>A (p.Thr113Asn) rs201461413 0.00048
NM_001267550.2(TTN):c.55925T>A (p.Leu18642Gln) rs140714512 0.00048
NM_001267550.2(TTN):c.93005G>T (p.Ser31002Ile) rs180975448 0.00048
NM_001365276.2(TNXB):c.8740G>A (p.Gly2914Ser) rs200708257 0.00048
NM_006267.5(RANBP2):c.7463T>C (p.Val2488Ala) rs189289937 0.00048
NM_006351.4(TIMM44):c.58A>G (p.Ser20Gly) rs149700042 0.00048
NM_012282.4(KCNE5):c.346G>A (p.Ala116Thr) rs764993726 0.00047
NM_001267550.2(TTN):c.18550G>A (p.Ala6184Thr) rs72648947 0.00046
NM_001267550.2(TTN):c.47767G>A (p.Gly15923Arg) rs371943746 0.00046
NM_001379180.1(ESRRB):c.949G>A (p.Asp317Asn) rs145982062 0.00046
NM_001267550.2(TTN):c.41488G>A (p.Val13830Ile) rs149059189 0.00045
NM_018429.3(BDP1):c.6610G>T (p.Val2204Phe) rs112823079 0.00044
NM_006440.5(TXNRD2):c.656G>C (p.Gly219Ala) rs199510610 0.00042
NM_000214.3(JAG1):c.814G>A (p.Val272Ile) rs148990028 0.00041
NM_001267550.2(TTN):c.41521G>A (p.Asp13841Asn) rs201257644 0.00041
NM_016938.5(EFEMP2):c.728-3C>T rs377139656 0.00041
NM_000169.3(GLA):c.352C>T (p.Arg118Cys) rs148158093 0.00040
NM_000088.4(COL1A1):c.1132C>G (p.Pro378Ala) rs764381074 0.00038
NM_001267550.2(TTN):c.32557C>T (p.Pro10853Ser) rs201738153 0.00038
NM_001267550.2(TTN):c.49413G>T (p.Trp16471Cys) rs202094100 0.00038
NM_001079855.2(GYG2):c.1350C>G (p.Ile450Met) rs148296798 0.00036
NM_002972.4(SBF1):c.5471G>A (p.Arg1824His) rs202149945 0.00036
NM_001282874.2(SMARCA1):c.2116C>T (p.Arg706Cys) rs140388140 0.00035
NM_001267550.2(TTN):c.82684T>C (p.Tyr27562His) rs376616067 0.00034
NM_001347995.2(ENTREP1):c.856C>T (p.His286Tyr) rs144596205 0.00034
NM_004563.4(PCK2):c.802A>G (p.Ile268Val) rs146890792 0.00034
NM_013266.4(CTNNA3):c.2524C>T (p.Arg842Trp) rs199852825 0.00034
NM_005548.3(KARS1):c.1485A>G (p.Ile495Met) rs144274136 0.00033
NM_018429.3(BDP1):c.5845G>A (p.Val1949Met) rs199778972 0.00033
NM_001365276.2(TNXB):c.3149-3C>T rs372556970 0.00032
NM_001006630.2(CHRM2):c.674T>A (p.Val225Asp) rs143952141 0.00031
NM_001267550.2(TTN):c.1297G>A (p.Val433Ile) rs146000949 0.00031
NM_001267550.2(TTN):c.84640A>G (p.Met28214Val) rs72648221 0.00031
NM_001458.5(FLNC):c.5954C>T (p.Ser1985Leu) rs200415625 0.00031
NM_001267550.2(TTN):c.70906C>T (p.Arg23636Cys) rs189208539 0.00030
NM_001267550.2(TTN):c.97099C>T (p.Arg32367Cys) rs202064385 0.00030
NM_014391.3(ANKRD1):c.368C>T (p.Thr123Met) rs145387010 0.00030
NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln) rs199632397 0.00029
NM_001267550.2(TTN):c.30485C>T (p.Thr10162Met) rs200593368 0.00029
NM_001267550.2(TTN):c.88720C>T (p.Arg29574Cys) rs200513274 0.00029
NM_001308093.3(GATA4):c.802G>A (p.Val268Met) rs116781972 0.00029
NM_001365276.2(TNXB):c.3277G>A (p.Val1093Met) rs200432719 0.00029
NM_012431.3(SEMA3E):c.2048A>G (p.Asn683Ser) rs144370841 0.00029
NM_144573.4(NEXN):c.1788T>G (p.Ser596Arg) rs199738750 0.00029
NM_001267550.2(TTN):c.74602A>G (p.Ile24868Val) rs72646898 0.00028
NM_001042517.2(DIAPH3):c.1808G>A (p.Arg603Gln) rs200231889 0.00027
NM_001103.4(ACTN2):c.1484C>T (p.Thr495Met) rs200248944 0.00027
NM_001267550.2(TTN):c.82402A>C (p.Lys27468Gln) rs201958805 0.00027
NM_013266.4(CTNNA3):c.779A>G (p.Gln260Arg) rs190073606 0.00027
NM_000152.5(GAA):c.32G>A (p.Arg11Gln) rs138812846 0.00026
NM_001079855.2(GYG2):c.1277A>G (p.Gln426Arg) rs144947653 0.00026
NM_030662.4(MAP2K2):c.-4C>G rs747742961 0.00026
NM_000256.3(MYBPC3):c.2873C>T (p.Thr958Ile) rs376504548 0.00025
NM_001267550.2(TTN):c.102190G>A (p.Ala34064Thr) rs200237973 0.00025
NM_004526.4(MCM2):c.1454T>C (p.Ile485Thr) rs139336906 0.00025
NM_020297.4(ABCC9):c.305T>C (p.Leu102Pro) rs374659816 0.00025
NM_000255.4(MMUT):c.1008G>A (p.Met336Ile) rs150095448 0.00024
NM_000256.3(MYBPC3):c.184A>C (p.Thr62Pro) rs377225516 0.00024
NM_005379.4(MYO1A):c.1667C>T (p.Ser556Phe) rs571906190 0.00024
NM_007078.3(LDB3):c.1606G>A (p.Val536Ile) rs113817827 0.00024
NM_013266.4(CTNNA3):c.1192G>A (p.Val398Ile) rs145043626 0.00024
NM_178335.3(CCDC50):c.1144G>A (p.Ala382Thr) rs143628723 0.00024
NM_000088.4(COL1A1):c.3849C>A (p.Asn1283Lys) rs199911681 0.00023
NM_001267550.2(TTN):c.6584A>G (p.Glu2195Gly) rs202032875 0.00023
NM_001458.5(FLNC):c.2068T>C (p.Phe690Leu) rs200943714 0.00023
NM_007078.3(LDB3):c.2092G>A (p.Ala698Thr) rs45577134 0.00023
NM_033641.4(COL4A6):c.3886C>T (p.Pro1296Ser) rs138267158 0.00023
NM_001005242.3(PKP2):c.302G>A (p.Arg101His) rs149542398 0.00022
NM_001039876.3(SYNE4):c.764T>C (p.Ile255Thr) rs199853331 0.00022
NM_001079855.2(GYG2):c.799G>A (p.Val267Ile) rs146066080 0.00022
NM_001267550.2(TTN):c.104519G>A (p.Arg34840Gln) rs199710082 0.00022
NM_001267550.2(TTN):c.87448A>T (p.Ile29150Leu) rs189030321 0.00022
NM_001267550.2(TTN):c.91173A>C (p.Glu30391Asp) rs199505541 0.00022
NM_001286445.3(RIPOR2):c.1130C>T (p.Pro377Leu) rs201901775 0.00022
NM_001365276.2(TNXB):c.2366G>A (p.Gly789Glu) rs367834992 0.00022
NM_012335.4(MYO1F):c.3188A>C (p.Asn1063Thr) rs199953551 0.00022
NM_014467.3(SRPX2):c.323G>A (p.Ser108Asn) rs200483534 0.00022
NM_001042517.2(DIAPH3):c.3283A>G (p.Met1095Val) rs199814282 0.00021
NM_001267550.2(TTN):c.54631C>A (p.Pro18211Thr) rs727504192 0.00021
NM_001267550.2(TTN):c.55306G>A (p.Glu18436Lys) rs201510986 0.00021
NM_001267550.2(TTN):c.69140T>C (p.Val23047Ala) rs368697152 0.00021
NM_001267550.2(TTN):c.88984G>A (p.Gly29662Ser) rs187460377 0.00021
NM_001458.5(FLNC):c.7499G>A (p.Ser2500Asn) rs371244800 0.00021
NM_033641.4(COL4A6):c.2806C>T (p.Arg936Cys) rs774641536 0.00021
NM_001267550.2(TTN):c.104516G>A (p.Arg34839Gln) rs371628882 0.00020
NM_001267550.2(TTN):c.63352C>T (p.Arg21118Trp) rs200726948 0.00020
NM_001267550.2(TTN):c.87623A>T (p.Tyr29208Phe) rs201831707 0.00020
NM_000088.4(COL1A1):c.2932C>T (p.Pro978Ser) rs193922153 0.00019
NM_001042517.2(DIAPH3):c.1291A>G (p.Thr431Ala) rs746390263 0.00019
NM_001267550.2(TTN):c.100447G>C (p.Glu33483Gln) rs368321767 0.00019
NM_001267550.2(TTN):c.3170T>C (p.Val1057Ala) rs145940356 0.00019
NM_001267550.2(TTN):c.50850C>A (p.Asp16950Glu) rs200700386 0.00019
NM_001267550.2(TTN):c.58072C>T (p.Arg19358Cys) rs371973579 0.00019
NM_001267550.2(TTN):c.68437G>A (p.Glu22813Lys) rs200797552 0.00019
NM_001267550.2(TTN):c.78064G>A (p.Val26022Ile) rs374764110 0.00019
NM_001458.5(FLNC):c.3938G>A (p.Arg1313Gln) rs199804244 0.00019
NM_001267550.2(TTN):c.100432T>G (p.Trp33478Gly) rs372304158 0.00018
NM_001267550.2(TTN):c.58397G>C (p.Gly19466Ala) rs201922910 0.00018
NM_001267550.2(TTN):c.58971A>C (p.Glu19657Asp) rs200728232 0.00018
NM_001267550.2(TTN):c.93803A>C (p.Lys31268Thr) rs200766837 0.00018
NM_001458.5(FLNC):c.1924G>A (p.Val642Ile) rs369387744 0.00018
NM_007078.3(LDB3):c.1910C>T (p.Ala637Val) rs141569007 0.00018
NM_170682.4(P2RX2):c.1363G>A (p.Glu455Lys) rs199955493 0.00018
NM_001267550.2(TTN):c.52826A>T (p.Gln17609Leu) rs368820294 0.00017
NM_001267550.2(TTN):c.81892G>A (p.Asp27298Asn) rs200697681 0.00017
NM_001365276.2(TNXB):c.5155G>A (p.Val1719Met) rs200125936 0.00017
NM_014391.3(ANKRD1):c.347C>T (p.Thr116Met) rs142354133 0.00017
NM_033118.4(MYLK2):c.157G>A (p.Asp53Asn) rs200204126 0.00017
NM_175875.5(SIX5):c.1462C>T (p.Pro488Ser) rs200487992 0.00017
NM_000089.4(COL1A2):c.2168A>G (p.Asn723Ser) rs189374343 0.00016
NM_001101426.4(CRPPA):c.693C>A (p.Asp231Glu) rs770257307 0.00016
NM_001267550.2(TTN):c.12332C>G (p.Ala4111Gly) rs140289517 0.00016
NM_001267550.2(TTN):c.40973A>G (p.Lys13658Arg) rs184713215 0.00016
NM_001267550.2(TTN):c.43315C>T (p.Arg14439Cys) rs200914097 0.00016
NM_001267550.2(TTN):c.51683C>T (p.Ala17228Val) rs370644359 0.00016
NM_001267550.2(TTN):c.54104C>T (p.Ala18035Val) rs182445366 0.00016
NM_001267550.2(TTN):c.75490G>A (p.Asp25164Asn) rs192468365 0.00016
NM_001267550.2(TTN):c.79883G>C (p.Arg26628Pro) rs201091376 0.00016
NM_001267550.2(TTN):c.87367A>C (p.Ser29123Arg) rs375198596 0.00016
NM_001267550.2(TTN):c.97055G>A (p.Arg32352His) rs575939045 0.00016
NM_001371333.1(DIABLO):c.179C>T (p.Ala60Val) rs199898020 0.00016
NM_001458.5(FLNC):c.2747G>A (p.Arg916Gln) rs143720860 0.00016
NM_001458.5(FLNC):c.4763C>G (p.Ala1588Gly) rs148545460 0.00016
NM_002474.3(MYH11):c.3291C>T (p.Ala1097=) rs147605116 0.00016
NM_004415.4(DSP):c.943C>T (p.Arg315Cys) rs200476515 0.00016
NM_014141.6(CNTNAP2):c.1480G>A (p.Glu494Lys) rs149032771 0.00016
NM_144670.6(A2ML1):c.1066C>T (p.Pro356Ser) rs753186530 0.00016
NM_001267550.2(TTN):c.4291C>T (p.Arg1431Trp) rs139636676 0.00015
NM_001267550.2(TTN):c.45014T>C (p.Leu15005Pro) rs369992659 0.00015
NM_001267550.2(TTN):c.49871G>A (p.Arg16624Gln) rs367566671 0.00015
NM_001267550.2(TTN):c.54490T>C (p.Tyr18164His) rs370135374 0.00015
NM_001267550.2(TTN):c.79546G>A (p.Gly26516Ser) rs776256093 0.00015
NM_001365276.2(TNXB):c.2981G>A (p.Arg994His) rs372167278 0.00015
NM_001368067.1(LDB3):c.511G>A (p.Ala171Thr) rs373632943 0.00015
NM_005633.4(SOS1):c.2966G>A (p.Arg989Lys) rs202043599 0.00015
NM_001267550.2(TTN):c.103434C>A (p.Asp34478Glu) rs376371272 0.00014
NM_001267550.2(TTN):c.56255C>T (p.Pro18752Leu) rs200132226 0.00014
NM_001267550.2(TTN):c.66590G>A (p.Arg22197Gln) rs374656017 0.00014
NM_001267550.2(TTN):c.73783G>A (p.Ala24595Thr) rs543275318 0.00014
NM_001267550.2(TTN):c.83870G>C (p.Arg27957Thr) rs148067743 0.00014
NM_001267550.2(TTN):c.84977G>A (p.Arg28326Gln) rs200843338 0.00014
NM_001267550.2(TTN):c.86002A>G (p.Ile28668Val) rs72648225 0.00014
NM_001267550.2(TTN):c.96173G>A (p.Arg32058Gln) rs374063064 0.00014
NM_001458.5(FLNC):c.3242C>T (p.Ala1081Val) rs200169573 0.00014
NM_002160.4(TNC):c.109G>A (p.Val37Met) rs139580620 0.00014
NM_004006.3(DMD):c.8212T>C (p.Trp2738Arg) rs372600090 0.00014
NM_004281.4(BAG3):c.1634C>G (p.Pro545Arg) rs759348679 0.00014
NM_014476.6(PDLIM3):c.683C>T (p.Pro228Leu) rs201185673 0.00014
NM_000151.4(G6PC1):c.694G>A (p.Val232Ile) rs145172999 0.00013
NM_000719.7(CACNA1C):c.4075-4C>A rs369044605 0.00013
NM_001134363.3(RBM20):c.3004C>G (p.Leu1002Val) rs375355193 0.00013
NM_001267550.2(TTN):c.12011A>G (p.Glu4004Gly) rs376000381 0.00013
NM_001267550.2(TTN):c.14639C>T (p.Ala4880Val) rs373683445 0.00013
NM_001267550.2(TTN):c.3619C>A (p.Pro1207Thr) rs373753003 0.00013
NM_001267550.2(TTN):c.56456A>G (p.Asn18819Ser) rs201337786 0.00013
NM_001267550.2(TTN):c.73303C>T (p.Arg24435Cys) rs200028088 0.00013
NM_001267550.2(TTN):c.82981C>T (p.Pro27661Ser) rs201422612 0.00013
NM_001267550.2(TTN):c.92333C>G (p.Thr30778Arg) rs201019681 0.00013
NM_001365276.2(TNXB):c.8761G>A (p.Val2921Met) rs529485424 0.00013
NM_002880.4(RAF1):c.94A>G (p.Ile32Val) rs372738063 0.00013
NM_005633.4(SOS1):c.3946C>G (p.His1316Asp) rs371024396 0.00013
NM_015271.5(TRIM2):c.2197A>G (p.Ile733Val) rs201921014 0.00013
NM_033118.4(MYLK2):c.50C>A (p.Thr17Lys) rs192056427 0.00013
NM_001267550.2(TTN):c.103912C>T (p.Arg34638Cys) rs374444254 0.00012
NM_001267550.2(TTN):c.17818T>C (p.Cys5940Arg) rs374882815 0.00012
NM_001267550.2(TTN):c.48683G>A (p.Arg16228His) rs368806005 0.00012
NM_001267550.2(TTN):c.59236G>A (p.Gly19746Ser) rs372802352 0.00012
NM_001267550.2(TTN):c.69338G>A (p.Arg23113Gln) rs370890454 0.00012
NM_001267550.2(TTN):c.90227C>T (p.Thr30076Met) rs201998913 0.00012
NM_001267550.2(TTN):c.90691C>T (p.Pro30231Ser) rs373722546 0.00012
NM_001267550.2(TTN):c.99966G>T (p.Trp33322Cys) rs775769503 0.00012
NM_004006.3(DMD):c.10643C>T (p.Thr3548Ile) rs139492098 0.00012
NM_175875.5(SIX5):c.1390A>T (p.Thr464Ser) rs550402717 0.00012
NC_000015.10:g.84817333A>G rs1008637055 0.00011
NM_001267550.2(TTN):c.100226G>A (p.Cys33409Tyr) rs201112096 0.00011
NM_001267550.2(TTN):c.102524G>A (p.Arg34175Gln) rs201954720 0.00011
NM_001267550.2(TTN):c.106442A>G (p.Lys35481Arg) rs200716018 0.00011
NM_001267550.2(TTN):c.1399-3C>T rs397517486 0.00011
NM_001267550.2(TTN):c.18379T>G (p.Cys6127Gly) rs370812788 0.00011
NM_001267550.2(TTN):c.227G>C (p.Gly76Ala) rs138750421 0.00011
NM_001267550.2(TTN):c.45247C>T (p.Arg15083Trp) rs199834143 0.00011
NM_001267550.2(TTN):c.53012C>T (p.Ala17671Val) rs549478203 0.00011
NM_001267550.2(TTN):c.55378A>G (p.Thr18460Ala) rs727503600 0.00011
NM_001267550.2(TTN):c.66703G>A (p.Val22235Ile) rs751354601 0.00011
NM_001267550.2(TTN):c.68161G>A (p.Glu22721Lys) rs374492812 0.00011
NM_001267550.2(TTN):c.75914C>T (p.Pro25305Leu) rs142453163 0.00011
NM_001267550.2(TTN):c.80160T>G (p.Ile26720Met) rs376363284 0.00011
NM_001267550.2(TTN):c.86911G>A (p.Gly28971Arg) rs368921501 0.00011
NM_001267550.2(TTN):c.88123C>T (p.Arg29375Cys) rs368439674 0.00011
NM_001267550.2(TTN):c.91399C>T (p.Arg30467Cys) rs775591945 0.00011
NM_001267550.2(TTN):c.93031G>A (p.Val31011Met) rs369206712 0.00011
NM_001267550.2(TTN):c.93214C>T (p.Arg31072Cys) rs368932767 0.00011
NM_001267550.2(TTN):c.99982G>A (p.Val33328Met) rs372302484 0.00011
NM_004006.3(DMD):c.295A>G (p.Ile99Val) rs149428656 0.00011
NM_004281.4(BAG3):c.415C>T (p.Arg139Trp) rs556465096 0.00011
NM_006267.5(RANBP2):c.3934G>A (p.Val1312Ile) rs372722891 0.00011
NM_020117.11(LARS1):c.3409G>A (p.Glu1137Lys) rs201386463 0.00011
NM_033337.3(CAV3):c.28G>A (p.Glu10Lys) rs139786391 0.00011
NM_170682.4(P2RX2):c.1409A>G (p.Gln470Arg) rs369100205 0.00011
NM_175875.5(SIX5):c.238C>T (p.Pro80Ser) rs934739524 0.00011
NM_001267550.2(TTN):c.102353G>A (p.Arg34118Gln) rs551905996 0.00010
NM_001267550.2(TTN):c.104522G>A (p.Arg34841His) rs373709706 0.00010
NM_001267550.2(TTN):c.18295C>T (p.Leu6099Phe) rs370109572 0.00010
NM_001267550.2(TTN):c.3035G>A (p.Arg1012Gln) rs368885310 0.00010
NM_001267550.2(TTN):c.44323G>A (p.Val14775Met) rs540115992 0.00010
NM_001267550.2(TTN):c.67445G>A (p.Arg22482Gln) rs200146608 0.00010
NM_001267550.2(TTN):c.6927T>A (p.Asn2309Lys) rs147580120 0.00010
NM_001267550.2(TTN):c.7339G>A (p.Val2447Met) rs779064962 0.00010
NM_001267550.2(TTN):c.80983G>A (p.Glu26995Lys) rs397517719 0.00010
NM_001267550.2(TTN):c.91434A>C (p.Glu30478Asp) rs373900294 0.00010
NM_001458.5(FLNC):c.31G>A (p.Gly11Ser) rs370512642 0.00010
NM_001458.5(FLNC):c.6689G>A (p.Arg2230His) rs376035195 0.00010
NM_004006.3(DMD):c.2183T>C (p.Ile728Thr) rs192004962 0.00010
NM_004006.3(DMD):c.3548G>C (p.Arg1183Thr) rs374993642 0.00010
NM_005188.4(CBL):c.2312A>T (p.Asp771Val) rs199788586 0.00010
NM_012431.3(SEMA3E):c.1739A>G (p.Asp580Gly) rs754158945 0.00010
NM_020778.5(ALPK3):c.183-5C>T rs758923137 0.00010
NM_033641.4(COL4A6):c.623C>G (p.Pro208Arg) rs2295919 0.00010
NM_175875.5(SIX5):c.1091G>T (p.Gly364Val) rs752238132 0.00010
NM_000335.5(SCN5A):c.3536C>T (p.Ala1179Val) rs41310765 0.00009
NM_001037.5(SCN1B):c.448+189C>A rs766373298 0.00009
NM_001105206.3(LAMA4):c.1551+4C>T rs201209516 0.00009
NM_001134363.3(RBM20):c.1418C>T (p.Ala473Val) rs727503387 0.00009
NM_001267550.2(TTN):c.101378A>T (p.Asp33793Val) rs200675195 0.00009
NM_001267550.2(TTN):c.102428T>C (p.Met34143Thr) rs397517786 0.00009
NM_001267550.2(TTN):c.103993C>G (p.Leu34665Val) rs370890922 0.00009
NM_001267550.2(TTN):c.105091G>A (p.Val35031Met) rs552058608 0.00009
NM_001267550.2(TTN):c.51668G>A (p.Arg17223Gln) rs142395261 0.00009
NM_001267550.2(TTN):c.53780T>C (p.Leu17927Pro) rs369678018 0.00009
NM_001267550.2(TTN):c.58857A>C (p.Glu19619Asp) rs368026488 0.00009
NM_001267550.2(TTN):c.59849G>A (p.Arg19950Gln) rs374914334 0.00009
NM_001267550.2(TTN):c.65515G>A (p.Ala21839Thr) rs56378177 0.00009
NM_001267550.2(TTN):c.66601G>A (p.Asp22201Asn) rs368924655 0.00009
NM_001267550.2(TTN):c.68225-5T>C rs758273663 0.00009
NM_001267550.2(TTN):c.72674C>T (p.Pro24225Leu) rs55992239 0.00009
NM_001267550.2(TTN):c.72826A>T (p.Thr24276Ser) rs373204984 0.00009
NM_001267550.2(TTN):c.76738A>G (p.Thr25580Ala) rs371711135 0.00009
NM_001267550.2(TTN):c.78906A>C (p.Glu26302Asp) rs534003014 0.00009
NM_001267550.2(TTN):c.81565C>G (p.Leu27189Val) rs142391957 0.00009
NM_001267550.2(TTN):c.84965G>A (p.Arg28322His) rs373532064 0.00009
NM_001267550.2(TTN):c.86471C>T (p.Thr28824Ile) rs200709344 0.00009
NM_001267550.2(TTN):c.87280G>A (p.Glu29094Lys) rs199501185 0.00009
NM_001267550.2(TTN):c.91373G>A (p.Ser30458Asn) rs376634713 0.00009
NM_001267550.2(TTN):c.97247C>T (p.Ser32416Leu) rs377412567 0.00009
NM_001365276.2(TNXB):c.5268C>T (p.Asp1756=) rs377387902 0.00009
NM_001379200.1(TBX1):c.1402G>C (p.Val468Leu) rs764197422 0.00009
NM_001458.5(FLNC):c.3623C>T (p.Ala1208Val) rs202184162 0.00009
NM_001458.5(FLNC):c.7289C>T (p.Ala2430Val) rs200516164 0.00009
NM_001458.5(FLNC):c.970-5A>G rs199755800 0.00009
NM_001943.5(DSG2):c.379-3C>T rs376556524 0.00009
NM_004006.3(DMD):c.3004A>T (p.Thr1002Ser) rs1244241099 0.00009
NM_004006.3(DMD):c.9479G>A (p.Arg3160His) rs771392678 0.00009
NM_004281.4(BAG3):c.554C>T (p.Ser185Leu) rs730880054 0.00009
NM_006939.4(SOS2):c.3235A>G (p.Thr1079Ala) rs61755576 0.00009
NM_012335.4(MYO1F):c.1945G>A (p.Glu649Lys) rs201646155 0.00009
NM_018429.3(BDP1):c.5851A>G (p.Thr1951Ala) rs200701950 0.00009
NM_144670.6(A2ML1):c.827C>G (p.Pro276Arg) rs201979319 0.00009
NM_170682.4(P2RX2):c.673C>G (p.Arg225Gly) rs202099523 0.00009
NM_001077653.2(TBX20):c.1001G>A (p.Arg334Gln) rs767429245 0.00008
NM_001232.4(CASQ2):c.1015-3C>T rs375320117 0.00008
NM_001267550.2(TTN):c.105757G>A (p.Val35253Met) rs373655492 0.00008
NM_001267550.2(TTN):c.12181G>A (p.Ala4061Thr) rs397517829 0.00008
NM_001267550.2(TTN):c.2767G>A (p.Glu923Lys) rs369195237 0.00008
NM_001267550.2(TTN):c.47860G>A (p.Ala15954Thr) rs377037421 0.00008
NM_001267550.2(TTN):c.54053A>T (p.Lys18018Met) rs368425364 0.00008
NM_001267550.2(TTN):c.66086G>A (p.Arg22029His) rs72646868 0.00008
NM_001267550.2(TTN):c.85472G>A (p.Arg28491His) rs373129706 0.00008
NM_001267550.2(TTN):c.92710A>G (p.Lys30904Glu) rs370265204 0.00008
NM_001267550.2(TTN):c.98431C>T (p.Arg32811Cys) rs371807358 0.00008
NM_001711.6(BGN):c.515G>A (p.Arg172His) rs782239175 0.00008
NM_004526.4(MCM2):c.2570C>T (p.Thr857Ile) rs140905579 0.00008
NM_005633.4(SOS1):c.244A>G (p.Ile82Val) rs397517157 0.00008
NM_007078.3(LDB3):c.715G>A (p.Val239Ile) rs201417512 0.00008
NM_007373.4(SHOC2):c.74A>G (p.Glu25Gly) rs730881019 0.00008
NM_014391.3(ANKRD1):c.27+4T>A rs376540175 0.00008
NM_032578.4(MYPN):c.3793+4A>G rs145946587 0.00008
NM_001008537.3(NEXMIF):c.265C>T (p.His89Tyr) rs752314023 0.00007
NM_001079855.2(GYG2):c.61G>A (p.Ala21Thr) rs769501754 0.00007
NM_001148.6(ANK2):c.85-5C>T rs372560419 0.00007
NM_001267550.2(TTN):c.106511G>C (p.Ser35504Thr) rs575070622 0.00007
NM_001267550.2(TTN):c.107105C>T (p.Pro35702Leu) rs772957495 0.00007
NM_001267550.2(TTN):c.2360T>C (p.Ile787Thr) rs143444636 0.00007
NM_001267550.2(TTN):c.53807G>A (p.Arg17936His) rs727503604 0.00007
NM_001267550.2(TTN):c.63065G>A (p.Arg21022His) rs727503585 0.00007
NM_001365276.2(TNXB):c.7296C>T (p.Thr2432=) rs753041189 0.00007
NM_001367624.2(ZNF469):c.959C>T (p.Thr320Met) rs765028361 0.00007
NM_001368067.1(LDB3):c.415G>A (p.Glu139Lys) rs374613600 0.00007
NM_001458.5(FLNC):c.3872G>A (p.Arg1291His) rs370042010 0.00007
NM_001458.5(FLNC):c.6134G>A (p.Arg2045Gln) rs747196571 0.00007
NM_002160.4(TNC):c.965G>A (p.Arg322Gln) rs145315080 0.00007
NM_004006.3(DMD):c.10846A>G (p.Thr3616Ala) rs368996545 0.00007
NM_004006.3(DMD):c.5548A>G (p.Lys1850Glu) rs141261536 0.00007
NM_004281.4(BAG3):c.-4C>T rs727502894 0.00007
NM_005477.3(HCN4):c.2830G>A (p.Ala944Thr) rs777648103 0.00007
NM_005633.4(SOS1):c.3729C>G (p.Asp1243Glu) rs730881026 0.00007
NM_007373.4(SHOC2):c.1477C>T (p.Leu493Phe) rs1026930115 0.00007
NM_017636.4(TRPM4):c.2779-5C>T rs374639233 0.00007
NM_017946.4(FKBP14):c.350-5G>A rs763069544 0.00007
NM_033337.3(CAV3):c.244G>A (p.Val82Ile) rs112626848 0.00007
NM_139215.3(TAF15):c.1388A>G (p.Tyr463Cys) rs756351856 0.00007
NM_000218.3(KCNQ1):c.1733-3T>C rs372912362 0.00006
NM_000238.4(KCNH2):c.3090G>A (p.Pro1030=) rs778604642 0.00006
NM_000257.4(MYH7):c.115G>A (p.Val39Met) rs376160714 0.00006
NM_001267550.2(TTN):c.102191C>T (p.Ala34064Val) rs149921607 0.00006
NM_001267550.2(TTN):c.104125C>T (p.Arg34709Cys) rs530959653 0.00006
NM_001267550.2(TTN):c.106044C>A (p.Asn35348Lys) rs145560044 0.00006
NM_001267550.2(TTN):c.12821G>A (p.Ser4274Asn) rs200348414 0.00006
NM_001267550.2(TTN):c.26468C>T (p.Thr8823Met) rs368151971 0.00006
NM_001267550.2(TTN):c.42509T>C (p.Met14170Thr) rs369623392 0.00006
NM_001267550.2(TTN):c.52139A>T (p.Asp17380Val) rs373305248 0.00006
NM_001267550.2(TTN):c.56911G>A (p.Val18971Met) rs373153121 0.00006
NM_001267550.2(TTN):c.57382A>G (p.Met19128Val) rs138367112 0.00006
NM_001267550.2(TTN):c.57586C>G (p.Leu19196Val) rs397517630 0.00006
NM_001267550.2(TTN):c.58017G>C (p.Leu19339Phe) rs368025965 0.00006
NM_001267550.2(TTN):c.63581T>C (p.Leu21194Pro) rs367838375 0.00006
NM_001267550.2(TTN):c.65093G>T (p.Arg21698Leu) rs371581072 0.00006
NM_001267550.2(TTN):c.67014C>A (p.Asn22338Lys) rs761241302 0.00006
NM_001267550.2(TTN):c.68981C>T (p.Thr22994Ile) rs183056142 0.00006
NM_001267550.2(TTN):c.6950G>A (p.Arg2317His) rs764882950 0.00006
NM_001267550.2(TTN):c.71149G>T (p.Asp23717Tyr) rs371818894 0.00006
NM_001267550.2(TTN):c.73847G>A (p.Arg24616Gln) rs201694149 0.00006
NM_001267550.2(TTN):c.83081G>A (p.Arg27694His) rs775499341 0.00006
NM_001267550.2(TTN):c.83600C>G (p.Pro27867Arg) rs374119634 0.00006
NM_001267550.2(TTN):c.84652G>A (p.Gly28218Ser) rs727504693 0.00006
NM_001267550.2(TTN):c.92590G>A (p.Asp30864Asn) rs200621611 0.00006
NM_001267550.2(TTN):c.93442T>C (p.Tyr31148His) rs373131310 0.00006
NM_001267550.2(TTN):c.96637G>A (p.Asp32213Asn) rs764561909 0.00006
NM_001267550.2(TTN):c.9674A>G (p.Asn3225Ser) rs202011992 0.00006
NM_001267550.2(TTN):c.97579G>A (p.Gly32527Ser) rs762160311 0.00006
NM_001267550.2(TTN):c.99922G>A (p.Ala33308Thr) rs201226974 0.00006
NM_001347995.2(ENTREP1):c.1247G>A (p.Arg416Gln) rs150027118 0.00006
NM_001384125.1(BLTP1):c.3221A>G (p.Asn1074Ser) rs202171900 0.00006
NM_001458.5(FLNC):c.7366G>A (p.Val2456Ile) rs770796119 0.00006
NM_002755.4(MAP2K1):c.277G>A (p.Val93Ile) rs151207265 0.00006
NM_004006.3(DMD):c.8219A>G (p.Asp2740Gly) rs771051897 0.00006
NM_004281.4(BAG3):c.785C>T (p.Ala262Val) rs397516883 0.00006
NM_004415.4(DSP):c.4175G>A (p.Arg1392Gln) rs201736018 0.00006
NM_005477.3(HCN4):c.2845C>T (p.Arg949Trp) rs755614529 0.00006
NM_014000.3(VCL):c.2748G>A (p.Pro916=) rs761794669 0.00006
NM_033118.4(MYLK2):c.331C>T (p.Pro111Ser) rs750548324 0.00006
NM_144670.6(A2ML1):c.692C>T (p.Thr231Met) rs202211381 0.00006
NM_000257.4(MYH7):c.5559+4C>T rs727504319 0.00005
NM_000527.5(LDLR):c.2575G>A (p.Val859Met) rs202049029 0.00005
NM_000719.7(CACNA1C):c.2461-3T>C rs918755208 0.00005
NM_001008537.3(NEXMIF):c.3650G>A (p.Arg1217His) rs143271748 0.00005
NM_001035.3(RYR2):c.10838+4G>A rs776923037 0.00005
NM_001105206.3(LAMA4):c.1960-3T>C rs373682270 0.00005
NM_001159699.2(FHL1):c.53C>T (p.Ala18Val) rs146125558 0.00005
NM_001267550.2(TTN):c.104000T>C (p.Ile34667Thr) rs727504476 0.00005
NM_001267550.2(TTN):c.24454G>A (p.Val8152Ile) rs397517507 0.00005
NM_001267550.2(TTN):c.2506G>A (p.Gly836Ser) rs751157908 0.00005
NM_001267550.2(TTN):c.4153G>A (p.Ala1385Thr) rs140760859 0.00005
NM_001267550.2(TTN):c.41812A>G (p.Met13938Val) rs201725483 0.00005
NM_001267550.2(TTN):c.52199A>C (p.Glu17400Ala) rs773027240 0.00005
NM_001267550.2(TTN):c.5255G>A (p.Arg1752His) rs150737838 0.00005
NM_001267550.2(TTN):c.54178G>A (p.Val18060Ile) rs190574498 0.00005
NM_001267550.2(TTN):c.56947G>A (p.Ala18983Thr) rs377000174 0.00005
NM_001267550.2(TTN):c.61289G>A (p.Cys20430Tyr) rs527704660 0.00005
NM_001267550.2(TTN):c.61992C>G (p.Asn20664Lys) rs376455983 0.00005
NM_001267550.2(TTN):c.70102A>G (p.Ile23368Val) rs367914610 0.00005
NM_001267550.2(TTN):c.76051T>C (p.Trp25351Arg) rs201839118 0.00005
NM_001267550.2(TTN):c.77302C>A (p.Leu25768Ile) rs541266544 0.00005
NM_001267550.2(TTN):c.82220T>C (p.Ile27407Thr) rs376037252 0.00005
NM_001267550.2(TTN):c.92451G>T (p.Glu30817Asp) rs397517755 0.00005
NM_001267550.2(TTN):c.94700A>G (p.Asn31567Ser) rs886042885 0.00005
NM_001267550.2(TTN):c.96230G>A (p.Arg32077Gln) rs369835255 0.00005
NM_001267550.2(TTN):c.97472T>C (p.Ile32491Thr) rs781572378 0.00005
NM_001378454.1(ALMS1):c.11548-3T>C rs555547573 0.00005
NM_001458.5(FLNC):c.4092G>C (p.Leu1364Phe) rs768635501 0.00005
NM_002047.4(GARS1):c.1754T>C (p.Met585Thr) rs374378925 0.00005
NM_002880.4(RAF1):c.835G>A (p.Asp279Asn) rs368796800 0.00005
NM_004006.3(DMD):c.10442A>G (p.Gln3481Arg) rs368594777 0.00005
NM_004006.3(DMD):c.434G>A (p.Arg145Gln) rs398123952 0.00005
NM_004006.3(DMD):c.6452G>A (p.Gly2151Asp) rs727503815 0.00005
NM_005751.5(AKAP9):c.289C>G (p.Gln97Glu) rs786205712 0.00005
NM_016203.4(PRKAG2):c.1679-3C>T rs371543989 0.00005
NM_030662.4(MAP2K2):c.536G>A (p.Arg179Gln) rs776316565 0.00005
NM_033337.3(CAV3):c.451G>A (p.Val151Ile) rs780870487 0.00005
NM_144639.3(UROC1):c.970C>T (p.Arg324Cys) rs377309471 0.00005
NM_170682.4(P2RX2):c.56G>A (p.Arg19Gln) rs369473481 0.00005
NM_000088.4(COL1A1):c.125A>G (p.Gln42Arg) rs367643097 0.00004
NM_000169.3(GLA):c.1261A>G (p.Met421Val) rs144060196 0.00004
NM_000169.3(GLA):c.196G>C (p.Glu66Gln) rs104894833 0.00004
NM_000335.5(SCN5A):c.2957G>A (p.Arg986Gln) rs41313667 0.00004
NM_000335.5(SCN5A):c.3080G>A (p.Arg1027Gln) rs763891399 0.00004
NM_000527.5(LDLR):c.1402G>A (p.Val468Ile) rs5932 0.00004
NM_001005242.3(PKP2):c.464G>C (p.Ser155Thr) rs141438322 0.00004
NM_001035.3(RYR2):c.463+6C>T rs397516533 0.00004
NM_001267550.2(TTN):c.102275G>A (p.Arg34092His) rs757918924 0.00004
NM_001267550.2(TTN):c.103658T>C (p.Ile34553Thr) rs727505196 0.00004
NM_001267550.2(TTN):c.104581C>T (p.Arg34861Cys) rs398124463 0.00004
NM_001267550.2(TTN):c.14119G>A (p.Glu4707Lys) rs749584249 0.00004
NM_001267550.2(TTN):c.1447G>A (p.Ala483Thr) rs34337578 0.00004
NM_001267550.2(TTN):c.1616T>A (p.Ile539Asn) rs774503024 0.00004
NM_001267550.2(TTN):c.2734C>T (p.Arg912Cys) rs371156190 0.00004
NM_001267550.2(TTN):c.2854G>C (p.Val952Leu) rs373848402 0.00004
NM_001267550.2(TTN):c.3103T>G (p.Ser1035Ala) rs762133521 0.00004
NM_001267550.2(TTN):c.41920G>A (p.Val13974Ile) rs373881831 0.00004
NM_001267550.2(TTN):c.42848G>A (p.Arg14283His) rs767899169 0.00004
NM_001267550.2(TTN):c.46363G>A (p.Asp15455Asn) rs370813526 0.00004
NM_001267550.2(TTN):c.46591G>A (p.Gly15531Arg) rs761815745 0.00004
NM_001267550.2(TTN):c.47089C>T (p.Arg15697Cys) rs780334981 0.00004
NM_001267550.2(TTN):c.48395G>A (p.Arg16132His) rs397517593 0.00004
NM_001267550.2(TTN):c.48571A>G (p.Ile16191Val) rs747433688 0.00004
NM_001267550.2(TTN):c.54115G>A (p.Asp18039Asn) rs765148928 0.00004
NM_001267550.2(TTN):c.5582G>A (p.Arg1861His) rs140914855 0.00004
NM_001267550.2(TTN):c.56686G>A (p.Val18896Met) rs370629962 0.00004
NM_001267550.2(TTN):c.58470T>A (p.Asp19490Glu) rs374118468 0.00004
NM_001267550.2(TTN):c.61588C>A (p.Pro20530Thr) rs755700079 0.00004
NM_001267550.2(TTN):c.63463C>T (p.Arg21155Cys) rs374727686 0.00004
NM_001267550.2(TTN):c.65047C>A (p.Pro21683Thr) rs528707403 0.00004
NM_001267550.2(TTN):c.67147G>A (p.Gly22383Arg) rs372388682 0.00004
NM_001267550.2(TTN):c.69412+4T>G rs761388922 0.00004
NM_001267550.2(TTN):c.70831G>A (p.Ala23611Thr) rs373765469 0.00004
NM_001267550.2(TTN):c.74513G>C (p.Gly24838Ala) rs200723435 0.00004
NM_001267550.2(TTN):c.75668C>T (p.Thr25223Ile) rs370070176 0.00004
NM_001267550.2(TTN):c.7619G>A (p.Arg2540His) rs397517725 0.00004
NM_001267550.2(TTN):c.88513C>T (p.Arg29505Cys) rs372360369 0.00004
NM_001267550.2(TTN):c.93724C>T (p.Arg31242Cys) rs563887822 0.00004
NM_001267550.2(TTN):c.96389C>T (p.Thr32130Met) rs368998895 0.00004
NM_001267550.2(TTN):c.9827A>G (p.Glu3276Gly) rs377049518 0.00004
NM_001267550.2(TTN):c.98750C>T (p.Ser32917Phe) rs561932256 0.00004
NM_001458.5(FLNC):c.3680C>T (p.Thr1227Ile) rs373573447 0.00004
NM_001458.5(FLNC):c.4951+3G>A rs377554196 0.00004
NM_001943.5(DSG2):c.-1G>C rs1012160082 0.00004
NM_004006.3(DMD):c.1159A>G (p.Met387Val) rs770202940 0.00004
NM_004006.3(DMD):c.1518G>T (p.Arg506Ser) rs755456119 0.00004
NM_004006.3(DMD):c.2117C>A (p.Pro706Gln) rs781015830 0.00004
NM_004281.4(BAG3):c.679C>G (p.Gln227Glu) rs149517238 0.00004
NM_004415.4(DSP):c.2631-5C>T rs773772683 0.00004
NM_004526.4(MCM2):c.2428G>A (p.Val810Ile) rs140928153 0.00004
NM_005633.4(SOS1):c.2587C>A (p.Gln863Lys) rs141501083 0.00004
NM_006073.4(TRDN):c.1568-4T>A rs764779610 0.00004
NM_006440.5(TXNRD2):c.449+4C>T rs755751835 0.00004
NM_006939.4(SOS2):c.3584C>T (p.Ala1195Val) rs753151750 0.00004
NM_007078.3(LDB3):c.1225C>A (p.Gln409Lys) rs139104492 0.00004
NM_016938.5(EFEMP2):c.628G>A (p.Gly210Arg) rs546162289 0.00004
NM_030770.4(TMPRSS5):c.733G>A (p.Gly245Ser) rs201111397 0.00004
NM_033641.4(COL4A6):c.4730T>C (p.Ile1577Thr) rs374510545 0.00004
NM_145691.4(ATPAF2):c.627T>G (p.Phe209Leu) rs863223910 0.00004
NM_175875.5(SIX5):c.1802C>T (p.Pro601Leu) rs768981892 0.00004
NM_000256.3(MYBPC3):c.3472G>A (p.Val1158Ile) rs542350927 0.00003
NM_000363.5(TNNI3):c.304G>A (p.Ala102Thr) rs374618872 0.00003
NM_000719.7(CACNA1C):c.50-3C>T rs780161540 0.00003
NM_001018005.2(TPM1):c.773-3T>C rs113759732 0.00003
NM_001035.3(RYR2):c.2203+4C>T rs371445192 0.00003
NM_001134363.3(RBM20):c.1603G>A (p.Val535Ile) rs183007628 0.00003
NM_001267550.2(TTN):c.100642T>C (p.Phe33548Leu) rs773561397 0.00003
NM_001267550.2(TTN):c.105182C>T (p.Ala35061Val) rs762136167 0.00003
NM_001267550.2(TTN):c.1288G>A (p.Val430Ile) rs371639583 0.00003
NM_001267550.2(TTN):c.14152A>G (p.Lys4718Glu) rs757119133 0.00003
NM_001267550.2(TTN):c.2998C>T (p.Leu1000Phe) rs140953779 0.00003
NM_001267550.2(TTN):c.3913G>T (p.Gly1305Trp) rs199889888 0.00003
NM_001267550.2(TTN):c.44987G>A (p.Arg14996His) rs762128685 0.00003
NM_001267550.2(TTN):c.48164G>A (p.Arg16055His) rs72677238 0.00003
NM_001267550.2(TTN):c.50077G>A (p.Val16693Ile) rs377141765 0.00003
NM_001267550.2(TTN):c.50812G>C (p.Glu16938Gln) rs72677250 0.00003
NM_001267550.2(TTN):c.53881+4C>T rs187632918 0.00003
NM_001267550.2(TTN):c.54140C>T (p.Ala18047Val) rs373815064 0.00003
NM_001267550.2(TTN):c.55988A>G (p.Asn18663Ser) rs368350844 0.00003
NM_001267550.2(TTN):c.56171A>G (p.Lys18724Arg) rs201091423 0.00003
NM_001267550.2(TTN):c.56960T>C (p.Ile18987Thr) rs373351577 0.00003
NM_001267550.2(TTN):c.57956A>G (p.Tyr19319Cys) rs369082749 0.00003
NM_001267550.2(TTN):c.583+4C>T rs764670848 0.00003
NM_001267550.2(TTN):c.60008G>A (p.Arg20003His) rs756091180 0.00003
NM_001267550.2(TTN):c.62611C>G (p.Leu20871Val) rs767670018 0.00003
NM_001267550.2(TTN):c.62995T>G (p.Phe20999Val) rs568886353 0.00003
NM_001267550.2(TTN):c.65194T>C (p.Phe21732Leu) rs397517661 0.00003
NM_001267550.2(TTN):c.66650T>G (p.Phe22217Cys) rs764330098 0.00003
NM_001267550.2(TTN):c.6668A>T (p.His2223Leu) rs372979075 0.00003
NM_001267550.2(TTN):c.69044C>T (p.Ala23015Val) rs771710562 0.00003
NM_001267550.2(TTN):c.70039G>C (p.Asp23347His) rs371752797 0.00003
NM_001267550.2(TTN):c.7331-3C>T rs772008843 0.00003
NM_001267550.2(TTN):c.75997G>A (p.Gly25333Ser) rs757343393 0.00003
NM_001267550.2(TTN):c.79685G>A (p.Arg26562Gln) rs538960023 0.00003
NM_001267550.2(TTN):c.84976C>T (p.Arg28326Trp) rs749633038 0.00003
NM_001267550.2(TTN):c.85450G>A (p.Asp28484Asn) rs56330345 0.00003
NM_001267550.2(TTN):c.89906T>C (p.Val29969Ala) rs201220828 0.00003
NM_001267550.2(TTN):c.89984T>C (p.Ile29995Thr) rs754676727 0.00003
NM_001267550.2(TTN):c.90748G>A (p.Glu30250Lys) rs200651247 0.00003
NM_001267550.2(TTN):c.9163+5G>C rs775448783 0.00003
NM_001267550.2(TTN):c.93107T>C (p.Met31036Thr) rs376942948 0.00003
NM_001267550.2(TTN):c.94075G>A (p.Val31359Ile) rs780436747 0.00003
NM_001267550.2(TTN):c.94507G>A (p.Ala31503Thr) rs375657115 0.00003
NM_001267550.2(TTN):c.95068G>A (p.Val31690Met) rs727503543 0.00003
NM_001276345.2(TNNT2):c.-5A>G rs730881093 0.00003
NM_001378454.1(ALMS1):c.1432+4C>T rs200933935 0.00003
NM_001458.5(FLNC):c.6040G>A (p.Val2014Met) rs772477251 0.00003
NM_001458.5(FLNC):c.6595G>A (p.Gly2199Arg) rs368977589 0.00003
NM_001943.5(DSG2):c.2880C>G (p.Ser960Arg) rs374807974 0.00003
NM_001943.5(DSG2):c.3040G>A (p.Val1014Ile) rs200830807 0.00003
NM_002047.4(GARS1):c.262C>G (p.Gln88Glu) rs201728920 0.00003
NM_002294.3(LAMP2):c.204C>G (p.Asp68Glu) rs376215728 0.00003
NM_002294.3(LAMP2):c.398-3T>C rs1045629648 0.00003
NM_004006.3(DMD):c.4046C>G (p.Ser1349Cys) rs763514033 0.00003
NM_004006.3(DMD):c.404A>G (p.Asn135Ser) rs764808552 0.00003
NM_004006.3(DMD):c.6212G>A (p.Arg2071Lys) rs774825173 0.00003
NM_004006.3(DMD):c.9478C>T (p.Arg3160Cys) rs779233737 0.00003
NM_004415.4(DSP):c.55C>A (p.Arg19Ser) rs777340009 0.00003
NM_005633.4(SOS1):c.3802G>A (p.Gly1268Ser) rs730881051 0.00003
NM_005633.4(SOS1):c.3836C>T (p.Thr1279Ile) rs758258471 0.00003
NM_005751.5(AKAP9):c.1538A>G (p.Lys513Arg) rs786205713 0.00003
NM_006267.5(RANBP2):c.6643C>G (p.Pro2215Ala) rs775798185 0.00003
NM_006939.4(SOS2):c.2978A>T (p.Asn993Ile) rs776000121 0.00003
NM_014008.5(CCDC22):c.586G>A (p.Val196Met) rs782660215 0.00003
NM_016013.4(NDUFAF1):c.553A>G (p.Met185Val) rs372385045 0.00003
NM_020117.11(LARS1):c.1545G>A (p.Met515Ile) rs863224045 0.00003
NM_020117.11(LARS1):c.2915T>C (p.Ile972Thr) rs377245038 0.00003
NM_020778.5(ALPK3):c.4723+5G>A rs771461497 0.00003
NM_021167.5(GATAD1):c.-3A>G rs776854919 0.00003
NM_030662.4(MAP2K2):c.884C>T (p.Ser295Leu) rs531584619 0.00003
NM_033641.4(COL4A6):c.4601A>G (p.Tyr1534Cys) rs150896729 0.00003
NM_174934.4(SCN4B):c.199C>T (p.Arg67Trp) rs775614261 0.00003
NC_000011.10:g.47338682G>A rs113182334 0.00002
NM_000088.4(COL1A1):c.3680G>A (p.Arg1227His) rs543809032 0.00002
NM_000116.5(TAFAZZIN):c.331C>T (p.His111Tyr) rs200405157 0.00002
NM_000169.3(GLA):c.991C>T (p.Leu331Phe) rs730880437 0.00002
NM_000371.4(TTR):c.-3A>G rs745422404 0.00002
NM_000371.4(TTR):c.439G>T (p.Glu147Ter) rs730881162 0.00002
NM_000719.7(CACNA1C):c.2634C>T (p.Ser878=) rs752800134 0.00002
NM_001005242.3(PKP2):c.2499C>A (p.His833Gln) rs202094467 0.00002
NM_001008537.3(NEXMIF):c.2357C>G (p.Thr786Ser) rs1450517934 0.00002
NM_001035.3(RYR2):c.1476+3C>T rs1387762631 0.00002
NM_001267550.2(TTN):c.107517T>G (p.Ser35839Arg) rs776981475 0.00002
NM_001267550.2(TTN):c.3524-3T>C rs762717963 0.00002
NM_001267550.2(TTN):c.3989G>A (p.Arg1330His) rs761402128 0.00002
NM_001267550.2(TTN):c.40915G>T (p.Gly13639Cys) rs1343417772 0.00002
NM_001267550.2(TTN):c.427G>A (p.Glu143Lys) rs754182768 0.00002
NM_001267550.2(TTN):c.48827T>C (p.Ile16276Thr) rs759916327 0.00002
NM_001267550.2(TTN):c.4889C>T (p.Ala1630Val) rs371601918 0.00002
NM_001267550.2(TTN):c.49213G>A (p.Val16405Ile) rs570644860 0.00002
NM_001267550.2(TTN):c.57860G>A (p.Arg19287His) rs371422299 0.00002
NM_001267550.2(TTN):c.58137C>T (p.Cys19379=) rs376310289 0.00002
NM_001267550.2(TTN):c.61825C>T (p.Arg20609Cys) rs786205389 0.00002
NM_001267550.2(TTN):c.64720G>A (p.Ala21574Thr) rs578085621 0.00002
NM_001267550.2(TTN):c.65300T>C (p.Ile21767Thr) rs762578274 0.00002
NM_001267550.2(TTN):c.70435C>T (p.Arg23479Trp) rs760509116 0.00002
NM_001267550.2(TTN):c.71903A>C (p.Asn23968Thr) rs769320596 0.00002
NM_001267550.2(TTN):c.74378C>T (p.Ser24793Leu) rs766741890 0.00002
NM_001267550.2(TTN):c.77471G>A (p.Arg25824His) rs376051922 0.00002
NM_001267550.2(TTN):c.79591G>A (p.Glu26531Lys) rs772211147 0.00002
NM_001267550.2(TTN):c.83198T>C (p.Ile27733Thr) rs759928014 0.00002
NM_001267550.2(TTN):c.87341G>A (p.Arg29114Lys) rs1253866874 0.00002
NM_001267550.2(TTN):c.89735T>C (p.Leu29912Pro) rs748326514 0.00002
NM_001267550.2(TTN):c.90332T>C (p.Leu30111Pro) rs368516973 0.00002
NM_001267550.2(TTN):c.9176A>T (p.Glu3059Val) rs727504501 0.00002
NM_001267550.2(TTN):c.9306-4A>G rs757164431 0.00002
NM_001267550.2(TTN):c.99254G>A (p.Arg33085His) rs777035261 0.00002
NM_001379200.1(TBX1):c.232G>A (p.Ala78Thr) rs1028072654 0.00002
NM_001458.5(FLNC):c.3295G>A (p.Val1099Ile) rs759452636 0.00002
NM_001458.5(FLNC):c.851-5C>T rs758216356 0.00002
NM_002230.4(JUP):c.-4C>T rs782493861 0.00002
NM_002880.4(RAF1):c.873A>G (p.Ser291=) rs139135606 0.00002
NM_004006.3(DMD):c.10889G>A (p.Arg3630Gln) rs1057522606 0.00002
NM_004006.3(DMD):c.842G>C (p.Ser281Thr) rs762274027 0.00002
NM_005633.4(SOS1):c.1202+5A>G rs1021449471 0.00002
NM_005633.4(SOS1):c.3329C>T (p.Ser1110Leu) rs572955351 0.00002
NM_005633.4(SOS1):c.3838C>A (p.Gln1280Lys) rs548519280 0.00002
NM_005633.4(SOS1):c.643T>C (p.Tyr215His) rs730881039 0.00002
NM_006073.4(TRDN):c.1220-3C>T rs773907258 0.00002
NM_007078.3(LDB3):c.1256C>A (p.Ser419Tyr) rs368888118 0.00002
NM_007373.4(SHOC2):c.961A>G (p.Thr321Ala) rs779218281 0.00002
NM_012335.4(MYO1F):c.3065G>A (p.Arg1022His) rs765257989 0.00002
NM_014000.3(VCL):c.783+5G>A rs767694507 0.00002
NM_016203.4(PRKAG2):c.1051+3A>G rs376499470 0.00002
NM_016203.4(PRKAG2):c.685-5C>A rs779931367 0.00002
NM_020297.4(ABCC9):c.3060G>A (p.Ser1020=) rs769003781 0.00002
NM_024334.3(TMEM43):c.747C>T (p.Ser249=) rs549809535 0.00002
NM_030662.4(MAP2K2):c.952A>G (p.Ile318Val) rs1064797064 0.00002
NM_033641.4(COL4A6):c.2936A>G (p.Asn979Ser) rs756303853 0.00002
NM_144670.6(A2ML1):c.2176G>T (p.Asp726Tyr) rs771684169 0.00002
NM_144736.5(NDUFAF7):c.19T>A (p.Ser7Thr) rs756442818 0.00002
NM_178335.3(CCDC50):c.599C>T (p.Ser200Leu) rs146653620 0.00002
NC_000015.10:g.84817283C>G rs867053742 0.00001
NM_000089.4(COL1A2):c.2079+3A>G rs1226079110 0.00001
NM_000089.4(COL1A2):c.2753A>G (p.Asn918Ser) rs201052196 0.00001
NM_000089.4(COL1A2):c.2868C>T (p.Pro956=) rs141516754 0.00001
NM_000138.5(FBN1):c.3089A>G (p.Asn1030Ser) rs375996640 0.00001
NM_000169.3(GLA):c.247G>A (p.Asp83Asn) rs782722577 0.00001
NM_000214.3(JAG1):c.1117A>G (p.Thr373Ala) rs1212026437 0.00001
NM_000218.3(KCNQ1):c.878G>A (p.Arg293His) rs199473465 0.00001
NM_000238.4(KCNH2):c.736G>T (p.Gly246Cys) rs1057520689 0.00001
NM_000256.3(MYBPC3):c.2309-4C>T rs942669152 0.00001
NM_000256.3(MYBPC3):c.408G>C (p.Gly136=) rs1057520977 0.00001
NM_000256.3(MYBPC3):c.418G>C (p.Ala140Pro) rs730880614 0.00001
NM_000257.4(MYH7):c.2679+3G>A rs553486562 0.00001
NM_000335.5(SCN5A):c.3388-3T>C rs949932623 0.00001
NM_000335.5(SCN5A):c.6011C>T (p.Pro2004Leu) rs779649600 0.00001
NM_000363.5(TNNI3):c.384G>A (p.Leu128=) rs373130533 0.00001
NM_000371.4(TTR):c.69G>A (p.Thr23=) rs752579437 0.00001
NM_000432.4(MYL2):c.-2C>T rs730880938 0.00001
NM_000719.7(CACNA1C):c.5929G>A (p.Val1977Ile) rs786205741 0.00001
NM_001005242.3(PKP2):c.1379-5T>C rs189036647 0.00001
NM_001008537.3(NEXMIF):c.1520G>A (p.Arg507Lys) rs778472603 0.00001
NM_001008537.3(NEXMIF):c.1757G>C (p.Gly586Ala) rs776845564 0.00001
NM_001018005.2(TPM1):c.840T>C (p.Asp280=) rs749271066 0.00001
NM_001035.3(RYR2):c.10257C>T (p.Phe3419=) rs748715725 0.00001
NM_001035.3(RYR2):c.6606C>T (p.Tyr2202=) rs1270857666 0.00001
NM_001040151.2(SCN3B):c.445+3G>A rs996152549 0.00001
NM_001103.4(ACTN2):c.616-3C>T rs111464645 0.00001
NM_001105206.3(LAMA4):c.1719A>G (p.Gln573=) rs782237472 0.00001
NM_001110792.2(MECP2):c.785G>A (p.Arg262His) rs61750227 0.00001
NM_001134363.3(RBM20):c.2069C>T (p.Pro690Leu) rs550942448 0.00001
NM_001134363.3(RBM20):c.674C>T (p.Thr225Ile) rs794729140 0.00001
NM_001148.6(ANK2):c.1189-5C>T rs779990637 0.00001
NM_001148.6(ANK2):c.2160T>A (p.Asp720Glu) rs748835902 0.00001
NM_001148.6(ANK2):c.4122+4C>A rs756374268 0.00001
NM_001148.6(ANK2):c.4371+5C>T rs891690526 0.00001
NM_001148.6(ANK2):c.5327G>A (p.Arg1776Gln) rs150207892 0.00001
NM_001148.6(ANK2):c.56G>A (p.Ser19Asn) rs369260005 0.00001
NM_001159699.2(FHL1):c.863A>T (p.Tyr288Phe) rs760214177 0.00001
NM_001267550.2(TTN):c.10162C>T (p.Arg3388Trp) rs758680640 0.00001
NM_001267550.2(TTN):c.103609C>T (p.Arg34537Trp) rs753957126 0.00001
NM_001267550.2(TTN):c.2629C>A (p.Pro877Thr) rs751640052 0.00001
NM_001267550.2(TTN):c.28055T>C (p.Leu9352Ser) rs776487201 0.00001
NM_001267550.2(TTN):c.40939A>G (p.Lys13647Glu) rs777187629 0.00001
NM_001267550.2(TTN):c.4292G>A (p.Arg1431Gln) rs373690688 0.00001
NM_001267550.2(TTN):c.42940G>A (p.Val14314Ile) rs376881525 0.00001
NM_001267550.2(TTN):c.43565A>G (p.His14522Arg) rs374085402 0.00001
NM_001267550.2(TTN):c.45598G>A (p.Ala15200Thr) rs752318420 0.00001
NM_001267550.2(TTN):c.47758A>C (p.Lys15920Gln) rs775513269 0.00001
NM_001267550.2(TTN):c.50642G>C (p.Gly16881Ala) rs201302681 0.00001
NM_001267550.2(TTN):c.55010C>T (p.Pro18337Leu) rs764568599 0.00001
NM_001267550.2(TTN):c.59812G>A (p.Ala19938Thr) rs755204306 0.00001
NM_001267550.2(TTN):c.65629G>T (p.Ala21877Ser) rs72646866 0.00001
NM_001267550.2(TTN):c.68083G>A (p.Ala22695Thr) rs767279296 0.00001
NM_001267550.2(TTN):c.69575C>T (p.Thr23192Ile) rs1319888327 0.00001
NM_001267550.2(TTN):c.74766G>C (p.Arg24922Ser) rs372814940 0.00001
NM_001267550.2(TTN):c.7502G>A (p.Arg2501Gln) rs369559000 0.00001
NM_001267550.2(TTN):c.76124A>T (p.Tyr25375Phe) rs374494927 0.00001
NM_001267550.2(TTN):c.80209T>A (p.Cys26737Ser) rs566764105 0.00001
NM_001267550.2(TTN):c.80712A>G (p.Ile26904Met) rs773395582 0.00001
NM_001267550.2(TTN):c.82448A>G (p.Lys27483Arg) rs937111656 0.00001
NM_001267550.2(TTN):c.82934G>A (p.Arg27645His) rs766522109 0.00001
NM_001267550.2(TTN):c.85096G>A (p.Val28366Ile) rs367800789 0.00001
NM_001267550.2(TTN):c.90159A>C (p.Lys30053Asn) rs886039117 0.00001
NM_001267550.2(TTN):c.91199A>T (p.Tyr30400Phe) rs376494747 0.00001
NM_001267550.2(TTN):c.9434G>A (p.Arg3145Lys) rs727503682 0.00001
NM_001267550.2(TTN):c.95539C>T (p.Arg31847Cys) rs774814532 0.00001
NM_001267550.2(TTN):c.97973G>A (p.Arg32658Gln) rs769581585 0.00001
NM_001267550.2(TTN):c.98465A>G (p.Asp32822Gly) rs191054704 0.00001
NM_001276345.2(TNNT2):c.-3A>G rs752977897 0.00001
NM_001289808.2(CRYAB):c.324+3A>G rs1057520897 0.00001
NM_001458.5(FLNC):c.2389+4C>T rs1057523921 0.00001
NM_001458.5(FLNC):c.3476G>A (p.Arg1159Gln) rs141199483 0.00001
NM_001458.5(FLNC):c.3553G>A (p.Glu1185Lys) rs912926530 0.00001
NM_001458.5(FLNC):c.3711A>C (p.Lys1237Asn) rs758220780 0.00001
NM_001458.5(FLNC):c.4109G>A (p.Arg1370Gln) rs761881020 0.00001
NM_001458.5(FLNC):c.5055G>A (p.Pro1685=) rs57797061 0.00001
NM_001458.5(FLNC):c.5133G>A (p.Pro1711=) rs754646406 0.00001
NM_001458.5(FLNC):c.5272C>T (p.Arg1758Trp) rs369187211 0.00001
NM_001458.5(FLNC):c.6608G>A (p.Arg2203His) rs1063262 0.00001
NM_001927.4(DES):c.218G>A (p.Arg73Gln) rs752518966 0.00001
NM_001927.4(DES):c.898-5C>T rs371053066 0.00001
NM_002471.4(MYH6):c.643-3T>C rs113552091 0.00001
NM_002834.5(PTPN11):c.1048T>G (p.Ser350Ala) rs146571700 0.00001
NM_002880.4(RAF1):c.1247A>G (p.Asn416Ser) rs774198365 0.00001
NM_002880.4(RAF1):c.845G>A (p.Arg282Gln) rs752713997 0.00001
NM_003476.5(CSRP3):c.-3A>C rs760384315 0.00001
NM_003480.4(MFAP5):c.300G>A (p.Pro100=) rs1294533558 0.00001
NM_004006.3(DMD):c.1150-4T>A rs794727031 0.00001
NM_004006.3(DMD):c.1712T>C (p.Phe571Ser) rs1326680081 0.00001
NM_004006.3(DMD):c.1734A>T (p.Lys578Asn) rs754347572 0.00001
NM_004006.3(DMD):c.1889C>A (p.Thr630Lys) rs1057523223 0.00001
NM_004006.3(DMD):c.247G>A (p.Val83Ile) rs1358774744 0.00001
NM_004006.3(DMD):c.2617T>C (p.Cys873Arg) rs200872948 0.00001
NM_004006.3(DMD):c.3283G>C (p.Val1095Leu) rs183819382 0.00001
NM_004006.3(DMD):c.4775T>C (p.Met1592Thr) rs398123966 0.00001
NM_004006.3(DMD):c.554G>A (p.Ser185Asn) rs1168876204 0.00001
NM_004006.3(DMD):c.8705G>A (p.Arg2902Gln) rs754308757 0.00001
NM_004281.4(BAG3):c.1447G>A (p.Gly483Ser) rs570294713 0.00001
NM_004281.4(BAG3):c.67C>T (p.Pro23Ser) rs747846089 0.00001
NM_004415.4(DSP):c.171-4T>C rs1554105598 0.00001
NM_004415.4(DSP):c.2023A>G (p.Ile675Val) rs142619902 0.00001
NM_004415.4(DSP):c.273+3A>G rs794728107 0.00001
NM_004415.4(DSP):c.4961T>C (p.Leu1654Pro) rs749730642 0.00001
NM_005188.4(CBL):c.1829C>A (p.Thr610Lys) rs730880427 0.00001
NM_005188.4(CBL):c.2062C>T (p.Pro688Ser) rs730880428 0.00001
NM_005633.4(SOS1):c.2728G>C (p.Asp910His) rs369277679 0.00001
NM_005633.4(SOS1):c.2998A>T (p.Ser1000Cys) rs730881031 0.00001
NM_005633.4(SOS1):c.3391+3T>C rs761579423 0.00001
NM_005633.4(SOS1):c.350T>G (p.Val117Gly) rs201085754 0.00001
NM_005888.4(SLC25A3):c.279G>T (p.Met93Ile) rs750003586 0.00001
NM_006393.3(NEBL):c.1346A>G (p.Tyr449Cys) rs535927510 0.00001
NM_006393.3(NEBL):c.986G>T (p.Gly329Val) rs776185255 0.00001
NM_006912.6(RIT1):c.461G>A (p.Arg154Gln) rs754596127 0.00001
NM_006939.4(SOS2):c.2957G>A (p.Arg986Lys) rs772746106 0.00001
NM_007078.3(LDB3):c.1437G>C (p.Gly479=) rs960379328 0.00001
NM_012216.4(MID2):c.1829A>G (p.Lys610Arg) rs1170589314 0.00001
NM_014000.3(VCL):c.1433A>G (p.Asn478Ser) rs763235691 0.00001
NM_014000.3(VCL):c.3259-5T>C rs1057523095 0.00001
NM_016013.4(NDUFAF1):c.143A>G (p.Lys48Arg) rs780200320 0.00001
NM_016599.5(MYOZ2):c.247-3C>T rs774202003 0.00001
NM_018100.4(EFHC1):c.43A>G (p.Thr15Ala) rs750899949 0.00001
NM_020117.11(LARS1):c.2885A>G (p.Asn962Ser) rs762913390 0.00001
NM_020433.5(JPH2):c.1729G>A (p.Glu577Lys) rs181096982 0.00001
NM_030662.4(MAP2K2):c.814G>A (p.Ala272Thr) rs757240576 0.00001
NM_033337.3(CAV3):c.32C>T (p.Ala11Val) rs867194464 0.00001
NM_053004.3(GNB1L):c.836T>C (p.Val279Ala) rs867982105 0.00001
NM_144670.6(A2ML1):c.3247C>T (p.Leu1083Phe) rs371934378 0.00001
NM_144670.6(A2ML1):c.3495C>G (p.Ile1165Met) rs868320081 0.00001
NM_175875.5(SIX5):c.191C>T (p.Pro64Leu) rs1192927373 0.00001
NM_000088.4(COL1A1):c.2838T>G (p.Pro946=) rs1555572418
NM_000088.4(COL1A1):c.429CCCCGGACC[1] (p.143PPG[3]) rs769867566
NM_000117.3(EMD):c.396C>A (p.His132Gln) rs145985318
NM_000117.3(EMD):c.466G>C (p.Gly156Arg) rs144594695
NM_000169.3(GLA):c.525C>G (p.Asp175Glu) rs782722844
NM_000169.3(GLA):c.70T>A (p.Trp24Arg) rs397515871
NM_000169.3(GLA):c.721A>G (p.Ser241Gly) rs730880438
NM_000218.3(KCNQ1):c.1343C>T (p.Pro448Leu) rs12720449
NM_000218.3(KCNQ1):c.1348G>A (p.Glu450Lys) rs148266527
NM_000218.3(KCNQ1):c.1596G>T (p.Ala532=) rs558452873
NM_000219.6(KCNE1):c.112_113delinsGA (p.Ser38Asp) rs1064795410
NM_000219.6(KCNE1):c.113G>A (p.Ser38Asn) rs1057522990
NM_000238.4(KCNH2):c.1509G>A (p.Val503=) rs967889413
NM_000256.3(MYBPC3):c.-5T>C rs886048383
NM_000256.3(MYBPC3):c.3057G>A (p.Val1019=) rs750618688
NM_000257.4(MYH7):c.1059A>T (p.Thr353=) rs1555338461
NM_000257.4(MYH7):c.4985G>A (p.Arg1662His) rs370328209
NM_000335.5(SCN5A):c.2415G>A (p.Ser805=) rs754312452
NM_001035.3(RYR2):c.14136C>A (p.Val4712=) rs756435572
NM_001035.3(RYR2):c.14756+3G>A rs1057523295
NM_001035.3(RYR2):c.309+5G>T rs794728695
NM_001042517.2(DIAPH3):c.156G>T (p.Glu52Asp) rs202198529
NM_001042517.2(DIAPH3):c.199C>G (p.Leu67Val) rs373421558
NM_001105206.3(LAMA4):c.2734A>T (p.Thr912Ser) rs863223684
NM_001148.6(ANK2):c.10685C>T (p.Pro3562Leu) rs779374859
NM_001148.6(ANK2):c.3255G>A (p.Ala1085=) rs56173868
NM_001159699.2(FHL1):c.817G>C (p.Val273Leu) rs190006104
NM_001267550.2(TTN):c.100397G>A (p.Arg33466His) rs189626540
NM_001267550.2(TTN):c.100982G>A (p.Arg33661Lys) rs201857158
NM_001267550.2(TTN):c.103659AGA[2] (p.Glu34555del) rs759860918
NM_001267550.2(TTN):c.106133C>T (p.Ala35378Val) rs555476312
NM_001267550.2(TTN):c.11959A>G (p.Ile3987Val) rs551387805
NM_001267550.2(TTN):c.177C>A (p.Ser59Arg) rs191057824
NM_001267550.2(TTN):c.2283_2288del (p.Lys762_Ala763del) rs727503701
NM_001267550.2(TTN):c.2744G>A (p.Arg915His) rs376922544
NM_001267550.2(TTN):c.3241G>A (p.Ala1081Thr) rs55914517
NM_001267550.2(TTN):c.3968C>T (p.Ala1323Val) rs774954394
NM_001267550.2(TTN):c.44210G>T (p.Arg14737Leu) rs373298007
NM_001267550.2(TTN):c.44375T>A (p.Ile14792Asn) rs747654057
NM_001267550.2(TTN):c.45053C>A (p.Ala15018Glu) rs72677221
NM_001267550.2(TTN):c.4561A>C (p.Thr1521Pro) rs1574674545
NM_001267550.2(TTN):c.59965G>A (p.Val19989Ile) rs1021499065
NM_001267550.2(TTN):c.61370A>C (p.Glu20457Ala) rs541930965
NM_001267550.2(TTN):c.62931AGA[1] (p.Glu20979del) rs727505236
NM_001267550.2(TTN):c.63329C>T (p.Ala21110Val) rs370687831
NM_001267550.2(TTN):c.65380G>A (p.Val21794Ile) rs373848128
NM_001267550.2(TTN):c.66385C>T (p.Arg22129Cys) rs763729258
NM_001267550.2(TTN):c.7492A>G (p.Thr2498Ala) rs943280773
NM_001267550.2(TTN):c.76802C>T (p.Thr25601Met) rs374913031
NM_001267550.2(TTN):c.77249G>A (p.Arg25750Gln) rs368038362
NM_001267550.2(TTN):c.80694A>C (p.Lys26898Asn) rs372650410
NM_001267550.2(TTN):c.80881_80882delinsAA (p.Ala26961Lys) rs1575668982
NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile) rs371788070
NM_001267550.2(TTN):c.85871G>A (p.Arg28624His) rs538641703
NM_001267550.2(TTN):c.86729AAG[1] (p.Glu28911del) rs727504797
NM_001267550.2(TTN):c.88112T>C (p.Ile29371Thr) rs767890385
NM_001267550.2(TTN):c.91610TTA[1] (p.Ile30538del) rs754953607
NM_001267550.2(TTN):c.97760G>C (p.Arg32587Pro) rs55704830
NM_001308093.3(GATA4):c.357CGC[5] (p.Ala126dup) rs1182566703
NM_001367624.2(ZNF469):c.1528_1529delinsAC (p.Gly510Thr) rs1555518716
NM_001376256.1(CRYM):c.168G>C (p.Arg56Ser) rs143848148
NM_001379200.1(TBX1):c.1076G>A (p.Gly359Asp) rs781731042
NM_001458.5(FLNC):c.3114G>A (p.Val1038=) rs376516180
NM_001458.5(FLNC):c.4301G>T (p.Arg1434Leu) rs143623535
NM_001458.5(FLNC):c.5363T>G (p.Val1788Gly) rs573899913
NM_001927.4(DES):c.1024-3C>A rs1553603530
NM_001927.4(DES):c.1372-3dup rs876657769
NM_001943.5(DSG2):c.3056G>A (p.Arg1019Lys) rs1057520867
NM_002047.4(GARS1):c.1171C>T (p.Arg391Cys) rs370057212
NM_002524.5(NRAS):c.31G>A (p.Ala11Thr) rs1367788342
NM_002834.5(PTPN11):c.1599+4C>A rs142606486
NM_002880.4(RAF1):c.309C>G (p.His103Gln) rs1057520880
NM_002880.4(RAF1):c.868_870delinsACC (p.Pro290Thr) rs2125380943
NM_003476.5(CSRP3):c.509-3_509-2del rs397516858
NM_004006.3(DMD):c.1687C>A (p.Arg563Ser) rs145739725
NM_004281.4(BAG3):c.212G>T (p.Arg71Leu) rs35434411
NM_004281.4(BAG3):c.782G>A (p.Arg261Gln) rs746454994
NM_004333.6(BRAF):c.76G>A (p.Glu26Lys) rs397507457
NM_004415.4(DSP):c.1903+3del rs1064793548
NM_005120.3(MED12):c.6208CAG[9] (p.Gln2075_Gln2076dup) rs757160341
NM_005343.4(HRAS):c.451-5C>T rs370181298
NM_005633.4(SOS1):c.1987A>G (p.Ile663Val) rs730881024
NM_005633.4(SOS1):c.3322G>C (p.Asp1108His) rs199856844
NM_005633.4(SOS1):c.3601C>T (p.Arg1201Trp) rs752395541
NM_006506.5(RASA2):c.349C>T (p.Arg117Cys) rs767782524
NM_014000.3(VCL):c.622+4C>G rs201020802
NM_014391.3(ANKRD1):c.553-3T>C rs1554827672
NM_015120.4(ALMS1):c.106_108dup (p.Ala36_Asn37insAla) rs746896173
NM_017636.4(TRPM4):c.1380G>T (p.Leu460=) rs145755269
NM_017946.4(FKBP14):c.493AAG[1] (p.Lys166del) rs542254849
NM_018429.3(BDP1):c.1294C>A (p.Gln432Lys) rs201849167
NM_018429.3(BDP1):c.2270G>A (p.Arg757His) rs201610494
NM_020297.4(ABCC9):c.639G>A (p.Val213=) rs1213285317
NM_024422.6(DSC2):c.371A>G (p.His124Arg) rs794728061
NM_030662.4(MAP2K2):c.806C>G (p.Pro269Arg) rs368064728
NM_030770.4(TMPRSS5):c.1159C>T (p.Arg387Cys) rs749110441
NM_032578.4(MYPN):c.3122T>A (p.Ile1041Asn) rs754227127
NM_032578.4(MYPN):c.360T>A (p.Asp120Glu) rs794729068
NM_032578.4(MYPN):c.662A>T (p.Asp221Val) rs185841477

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