NM_000492.4(CFTR):c.-226G>T
|
rs73717525
|
0.00422
|
NM_000384.3(APOB):c.3383G>A (p.Arg1128His)
|
rs12713843
|
0.00356
|
NM_000245.4(MET):c.2908C>T (p.Arg970Cys)
|
rs34589476
|
0.00327
|
NM_000203.5(IDUA):c.1345C>A (p.His449Asn)
|
rs532731688
|
0.00315
|
NM_000540.3(RYR1):c.9685+16C>T
|
rs45496799
|
0.00312
|
NM_000371.4(TTR):c.336+19G>A
|
rs75517067
|
0.00309
|
NM_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val)
|
rs146920285
|
0.00306
|
NM_194248.3(OTOF):c.2215-80T>C
|
rs143141993
|
0.00268
|
NM_000431.4(MVK):c.238G>A (p.Val80Ile)
|
rs76914224
|
0.00259
|
NM_014874.4(MFN2):c.1403G>A (p.Arg468His)
|
rs138382758
|
0.00255
|
NM_001852.4(COL9A2):c.1982C>T (p.Pro661Leu)
|
rs150687987
|
0.00242
|
NM_004239.4(TRIP11):c.5137G>C (p.Glu1713Gln)
|
rs137974620
|
0.00232
|
NM_000053.4(ATP7B):c.2955C>T (p.Cys985=)
|
rs116587608
|
0.00227
|
NM_014336.5(AIPL1):c.516T>C (p.His172=)
|
rs62637017
|
0.00220
|
NM_000540.3(RYR1):c.2121C>A (p.Gly707=)
|
rs146104858
|
0.00208
|
NM_004239.4(TRIP11):c.5629C>A (p.Pro1877Thr)
|
rs148261539
|
0.00204
|
NM_000463.3(UGT1A1):c.540A>G (p.Glu180=)
|
rs148755655
|
0.00201
|
NM_000492.3(CFTR):c.-461A>G
|
rs185028612
|
0.00200
|
NM_006329.4(FBLN5):c.376G>A (p.Val126Met)
|
rs61734479
|
0.00199
|
NM_153717.3(EVC):c.550G>A (p.Asp184Asn)
|
rs41269549
|
0.00194
|
NM_002180.3(IGHMBP2):c.1193C>T (p.Ala398Val)
|
rs35193202
|
0.00187
|
NM_000492.4(CFTR):c.1365G>A (p.Ala455=)
|
rs79074685
|
0.00183
|
NM_001130823.3(DNMT1):c.150C>T (p.His50=)
|
rs146112081
|
0.00182
|
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His)
|
rs143987857
|
0.00171
|
NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=)
|
rs188336294
|
0.00171
|
NM_001199397.3(NEK1):c.3411G>A (p.Leu1137=)
|
rs56077602
|
0.00169
|
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)
|
rs137854475
|
0.00168
|
NM_001458.5(FLNC):c.5644A>G (p.Ile1882Val)
|
rs184018403
|
0.00160
|
NM_018979.4(WNK1):c.1074C>T (p.Thr358=)
|
rs72648621
|
0.00160
|
NM_018979.4(WNK1):c.6150T>C (p.Leu2050=)
|
rs151331381
|
0.00157
|
NM_020631.6(PLEKHG5):c.1932T>C (p.Pro644=)
|
rs150807400
|
0.00156
|
NM_032119.4(ADGRV1):c.5072C>T (p.Thr1691Met)
|
rs146954342
|
0.00145
|
NM_000642.3(AGL):c.1875G>T (p.Thr625=)
|
rs141944878
|
0.00143
|
NM_000431.4(MVK):c.924C>T (p.Leu308=)
|
rs72648042
|
0.00140
|
NM_001355436.2(SPTB):c.5050C>T (p.Arg1684Cys)
|
rs141226650
|
0.00138
|
NM_004239.4(TRIP11):c.382G>T (p.Ala128Ser)
|
rs141553918
|
0.00133
|
NM_147127.5(EVC2):c.1823G>A (p.Arg608His)
|
rs145693546
|
0.00129
|
NM_000463.3(UGT1A1):c.1122T>C (p.Gly374=)
|
rs139698110
|
0.00126
|
NM_001267550.2(TTN):c.61322A>G (p.Asn20441Ser)
|
rs147580753
|
0.00124
|
NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys)
|
rs202162520
|
0.00121
|
NM_000719.7(CACNA1C):c.724C>T (p.Leu242=)
|
rs200800133
|
0.00120
|
NM_206933.4(USH2A):c.6364G>T (p.Ala2122Ser)
|
rs142786231
|
0.00120
|
NM_015702.3(MMADHC):c.578T>C (p.Val193Ala)
|
rs147370143
|
0.00117
|
NM_000352.6(ABCC8):c.2610C>T (p.Ala870=)
|
rs111967655
|
0.00116
|
NM_016169.4(SUFU):c.600C>T (p.Ile200=)
|
rs149513330
|
0.00116
|
NM_000337.6(SGCD):c.213G>A (p.Arg71=)
|
rs74846539
|
0.00115
|
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly)
|
rs61730054
|
0.00113
|
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp)
|
rs201043950
|
0.00110
|
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser)
|
rs143978652
|
0.00110
|
NM_000059.4(BRCA2):c.175C>G (p.Pro59Ala)
|
rs56091799
|
0.00108
|
NM_001395413.1(POR):c.1882G>A (p.Val628Ile)
|
rs145782750
|
0.00106
|
NM_005529.7(HSPG2):c.13018G>A (p.Val4340Met)
|
rs145687082
|
0.00106
|
NM_001927.4(DES):c.18G>A (p.Ser6=)
|
rs199972656
|
0.00104
|
NM_032119.4(ADGRV1):c.4214C>T (p.Ser1405Phe)
|
rs41305898
|
0.00104
|
NM_201253.3(CRB1):c.2103C>G (p.Pro701=)
|
rs144436610
|
0.00104
|
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys)
|
rs138327406
|
0.00103
|
NM_001191061.2(SLC25A22):c.585C>T (p.Leu195=)
|
rs147840220
|
0.00103
|
NM_002691.4(POLD1):c.3054G>A (p.Val1018=)
|
rs369613619
|
0.00103
|
NM_015512.5(DNAH1):c.1351A>G (p.Lys451Glu)
|
rs76591348
|
0.00103
|
NM_000286.3(PEX12):c.722G>T (p.Gly241Val)
|
rs139417458
|
0.00101
|
NM_001364905.1(LRBA):c.1713C>T (p.His571=)
|
rs145812385
|
0.00101
|
NM_020975.6(RET):c.1157C>T (p.Ala386Val)
|
rs115272158
|
0.00101
|
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys)
|
rs55716624
|
0.00100
|
NM_025132.4(WDR19):c.2715G>A (p.Lys905=)
|
rs200339331
|
0.00099
|
NM_000719.7(CACNA1C):c.3642C>T (p.Tyr1214=)
|
rs56394008
|
0.00096
|
NM_002180.3(IGHMBP2):c.2793C>T (p.Gly931=)
|
rs139926138
|
0.00096
|
NM_005529.7(HSPG2):c.10512C>T (p.His3504=)
|
rs55875654
|
0.00093
|
NM_001395413.1(POR):c.678C>T (p.Ala226=)
|
rs72557906
|
0.00089
|
NM_014874.4(MFN2):c.1641C>T (p.Leu547=)
|
rs140924661
|
0.00089
|
NM_182961.4(SYNE1):c.22554G>A (p.Gly7518=)
|
rs148240825
|
0.00089
|
NM_000719.7(CACNA1C):c.4611C>T (p.Arg1537=)
|
rs372702466
|
0.00088
|
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser)
|
rs150516929
|
0.00088
|
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser)
|
rs193922380
|
0.00086
|
NM_000492.4(CFTR):c.4243-20A>G
|
rs138025486
|
0.00086
|
NM_000238.4(KCNH2):c.51C>G (p.Thr17=)
|
rs144338227
|
0.00083
|
NM_000142.5(FGFR3):c.1923C>T (p.Asp641=)
|
rs148104605
|
0.00081
|
NM_001999.4(FBN2):c.2427T>A (p.Ile809=)
|
rs139686090
|
0.00081
|
NM_000540.3(RYR1):c.10119G>A (p.Val3373=)
|
rs140689610
|
0.00079
|
NM_005982.4(SIX1):c.330G>A (p.Arg110=)
|
rs73309461
|
0.00078
|
NM_015139.3(SLC35D1):c.814G>A (p.Ala272Thr)
|
rs143218310
|
0.00078
|
NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn)
|
rs121912705
|
0.00077
|
NM_002180.3(IGHMBP2):c.1060+8G>T
|
rs201147313
|
0.00076
|
NM_000288.4(PEX7):c.339+10A>G
|
rs374668045
|
0.00075
|
NM_000316.3(PTH1R):c.313+4C>T
|
rs200207404
|
0.00074
|
NM_001457.4(FLNB):c.3288C>T (p.Ser1096=)
|
rs77934864
|
0.00071
|
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp)
|
rs61746008
|
0.00070
|
NM_004984.4(KIF5A):c.1419G>A (p.Leu473=)
|
rs139091551
|
0.00070
|
NM_001289808.2(CRYAB):c.152C>T (p.Pro51Leu)
|
rs2234704
|
0.00068
|
NM_000478.6(ALPL):c.612C>T (p.Ile204=)
|
rs141448778
|
0.00067
|
NM_153717.3(EVC):c.2322G>C (p.Ala774=)
|
rs150373930
|
0.00067
|
NM_005633.4(SOS1):c.3391+7A>G
|
rs201982464
|
0.00066
|
NM_001267550.2(TTN):c.50758C>G (p.Pro16920Ala)
|
rs377289817
|
0.00064
|
NM_198859.4(PRICKLE2):c.1314G>C (p.Gln438His)
|
rs202170644
|
0.00064
|
NM_001267550.2(TTN):c.72587G>A (p.Arg24196His)
|
rs200317412
|
0.00063
|
NM_001267550.2(TTN):c.77716G>A (p.Glu25906Lys)
|
rs56341835
|
0.00063
|
NM_005529.7(HSPG2):c.732A>G (p.Thr244=)
|
rs139842104
|
0.00062
|
NM_001267550.2(TTN):c.81472C>G (p.Pro27158Ala)
|
rs200771189
|
0.00061
|
NM_000089.4(COL1A2):c.304C>T (p.Pro102Ser)
|
rs189557655
|
0.00060
|
NM_001458.5(FLNC):c.1519G>A (p.Gly507Arg)
|
rs189525930
|
0.00060
|
NM_004984.4(KIF5A):c.1150G>C (p.Gly384Arg)
|
rs143326964
|
0.00060
|
NM_000431.4(MVK):c.441C>T (p.Ala147=)
|
rs138342076
|
0.00059
|
NM_001191061.2(SLC25A22):c.876G>A (p.Ala292=)
|
rs146300431
|
0.00058
|
NM_024675.4(PALB2):c.2851T>C (p.Ser951Pro)
|
rs149522412
|
0.00058
|
NM_000089.4(COL1A2):c.3853A>C (p.Asn1285His)
|
rs144797861
|
0.00057
|
NM_001458.5(FLNC):c.2390-8C>G
|
rs146063718
|
0.00057
|
NM_001844.5(COL2A1):c.195C>T (p.Asp65=)
|
rs202210896
|
0.00056
|
NM_000089.4(COL1A2):c.3613C>T (p.Arg1205Trp)
|
rs150124840
|
0.00054
|
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn)
|
rs12720457
|
0.00053
|
NM_001844.5(COL2A1):c.1300C>T (p.Pro434Ser)
|
rs140985224
|
0.00053
|
NM_021625.5(TRPV4):c.2304G>C (p.Ser768=)
|
rs138986228
|
0.00053
|
NM_001267550.2(TTN):c.97386C>T (p.Thr32462=)
|
rs376810671
|
0.00052
|
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe)
|
rs200078204
|
0.00051
|
NM_001267550.2(TTN):c.24964G>T (p.Val8322Leu)
|
rs201571580
|
0.00051
|
NM_016203.4(PRKAG2):c.1318C>T (p.His440Tyr)
|
rs201878539
|
0.00051
|
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu)
|
rs45496496
|
0.00050
|
NM_004239.4(TRIP11):c.4620T>C (p.Val1540=)
|
rs72705400
|
0.00049
|
NM_001122955.4(BSCL2):c.1100C>T (p.Pro367Leu)
|
rs144245125
|
0.00048
|
NM_170707.4(LMNA):c.789G>A (p.Leu263=)
|
rs148557956
|
0.00048
|
NM_001267550.2(TTN):c.55925T>A (p.Leu18642Gln)
|
rs140714512
|
0.00047
|
NM_024426.6(WT1):c.1131T>C (p.Pro377=)
|
rs151034312
|
0.00047
|
NM_000492.4(CFTR):c.274-6T>C
|
rs371315549
|
0.00046
|
NM_001244008.2(KIF1A):c.3330G>A (p.Ala1110=)
|
rs200149062
|
0.00045
|
NM_004004.6(GJB2):c.*1C>T
|
rs111033327
|
0.00045
|
NM_016239.4(MYO15A):c.858C>G (p.Pro286=)
|
rs200424851
|
0.00045
|
NM_000548.5(TSC2):c.3610+6G>A
|
rs45517301
|
0.00043
|
NM_000138.5(FBN1):c.2148A>G (p.Gly716=)
|
rs141039922
|
0.00042
|
NM_000337.6(SGCD):c.543T>G (p.Pro181=)
|
rs200451694
|
0.00041
|
NM_000492.4(CFTR):c.3469-17T>C
|
rs199630678
|
0.00041
|
NM_021625.5(TRPV4):c.1491+10C>T
|
rs201815805
|
0.00041
|
NM_182961.4(SYNE1):c.17640C>T (p.Arg5880=)
|
rs144418713
|
0.00041
|
NM_000089.4(COL1A2):c.1008C>T (p.Ala336=)
|
rs138357977
|
0.00040
|
NM_006363.6(SEC23B):c.519G>A (p.Val173=)
|
rs138314893
|
0.00040
|
NM_000492.4(CFTR):c.1766+73T>G
|
rs397508299
|
0.00036
|
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe)
|
rs56009889
|
0.00035
|
NM_001844.5(COL2A1):c.4116C>T (p.Asn1372=)
|
rs150237416
|
0.00035
|
NM_020822.3(KCNT1):c.522G>A (p.Met174Ile)
|
rs147551342
|
0.00035
|
NM_017780.4(CHD7):c.2185A>G (p.Lys729Glu)
|
rs41272437
|
0.00034
|
NM_000038.6(APC):c.2232T>G (p.Ser744=)
|
rs145751759
|
0.00032
|
NM_001457.4(FLNB):c.4061+4G>A
|
rs370061963
|
0.00032
|
NM_001110556.2(FLNA):c.1691+7C>A
|
rs199565118
|
0.00031
|
NM_001267550.2(TTN):c.63273T>C (p.Asp21091=)
|
rs374168580
|
0.00031
|
NM_001267550.2(TTN):c.78855T>C (p.Asp26285=)
|
rs139953862
|
0.00031
|
NM_000093.5(COL5A1):c.3906+10C>T
|
rs183881247
|
0.00030
|
NM_000492.4(CFTR):c.3558A>G (p.Gln1186=)
|
rs1800121
|
0.00029
|
NM_001267550.2(TTN):c.17543G>A (p.Gly5848Glu)
|
rs185962498
|
0.00028
|
NM_001267550.2(TTN):c.21993T>C (p.Pro7331=)
|
rs373223049
|
0.00028
|
NM_000059.4(BRCA2):c.4584C>T (p.Ser1528=)
|
rs80359788
|
0.00026
|
NM_000548.5(TSC2):c.4105C>T (p.Arg1369Trp)
|
rs45517328
|
0.00026
|
NM_001267550.2(TTN):c.14535C>T (p.Asp4845=)
|
rs184307461
|
0.00026
|
NM_001267550.2(TTN):c.90624T>C (p.Asn30208=)
|
rs370479059
|
0.00024
|
NM_001457.4(FLNB):c.3594G>A (p.Thr1198=)
|
rs143566075
|
0.00024
|
NM_001110556.2(FLNA):c.237G>C (p.Ala79=)
|
rs200626788
|
0.00023
|
NM_001365536.1(SCN9A):c.1980G>A (p.Thr660=)
|
rs200014315
|
0.00023
|
NM_005529.7(HSPG2):c.4971C>T (p.Tyr1657=)
|
rs138459752
|
0.00023
|
NM_004006.3(DMD):c.3951G>A (p.Glu1317=)
|
rs199643655
|
0.00022
|
NM_001360016.2(G6PD):c.864+17A>T
|
rs377041776
|
0.00019
|
NM_006790.3(MYOT):c.323A>C (p.Asn108Thr)
|
rs142416150
|
0.00019
|
NM_001267550.2(TTN):c.87771C>A (p.Gly29257=)
|
rs72648230
|
0.00016
|
NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=)
|
rs117846737
|
0.00016
|
NM_007294.4(BRCA1):c.4410A>T (p.Glu1470Asp)
|
rs80357075
|
0.00016
|
NM_170707.4(LMNA):c.1656C>T (p.Asp552=)
|
rs370219874
|
0.00016
|
NM_000492.4(CFTR):c.360G>A (p.Ala120=)
|
rs1800077
|
0.00015
|
NM_001110556.2(FLNA):c.1812C>T (p.Asp604=)
|
rs370735674
|
0.00015
|
NM_000059.4(BRCA2):c.502C>A (p.Pro168Thr)
|
rs80358726
|
0.00014
|
NM_000492.4(CFTR):c.2559T>C (p.Ile853=)
|
rs1800104
|
0.00014
|
NM_001110556.2(FLNA):c.3045G>A (p.Ala1015=)
|
rs370868704
|
0.00014
|
NM_001199397.3(NEK1):c.594A>G (p.Thr198=)
|
rs373252814
|
0.00014
|
NM_001267550.2(TTN):c.103104A>G (p.Leu34368=)
|
rs371535721
|
0.00014
|
NM_001267550.2(TTN):c.99340T>C (p.Leu33114=)
|
rs371656672
|
0.00014
|
NM_000023.4(SGCA):c.408C>T (p.Ala136=)
|
rs143551687
|
0.00013
|
NM_000089.4(COL1A2):c.2904C>T (p.Pro968=)
|
rs142352627
|
0.00013
|
NM_001853.4(COL9A3):c.1932C>T (p.Pro644=)
|
rs550889206
|
0.00012
|
NM_004004.6(GJB2):c.120A>C (p.Ala40=)
|
rs561870637
|
0.00012
|
NM_000090.4(COL3A1):c.3818A>G (p.Lys1273Arg)
|
rs144614075
|
0.00011
|
NM_000414.4(HSD17B4):c.1317A>G (p.Val439=)
|
rs771922933
|
0.00011
|
NM_007294.4(BRCA1):c.3823A>G (p.Ile1275Val)
|
rs80357280
|
0.00011
|
NM_032043.3(BRIP1):c.249A>G (p.Gln83=)
|
rs45528833
|
0.00011
|
NM_001110556.2(FLNA):c.3708C>T (p.Gly1236=)
|
rs200363918
|
0.00010
|
NM_001267550.2(TTN):c.1815T>C (p.Thr605=)
|
rs757604614
|
0.00010
|
NM_000059.4(BRCA2):c.4614T>C (p.Ser1538=)
|
rs45520945
|
0.00009
|
NM_000093.5(COL5A1):c.804C>T (p.Gly268=)
|
rs147729713
|
0.00009
|
NM_000492.4(CFTR):c.3718-24G>A
|
rs374013084
|
0.00009
|
NM_001267550.2(TTN):c.13884C>T (p.Ser4628=)
|
rs183328495
|
0.00009
|
NM_001267550.2(TTN):c.57544+7dup
|
rs750881309
|
0.00009
|
NM_001999.4(FBN2):c.3013T>C (p.Leu1005=)
|
rs147633551
|
0.00009
|
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly)
|
rs201375478
|
0.00008
|
NM_000719.7(CACNA1C):c.5529T>C (p.His1843=)
|
rs371831239
|
0.00008
|
NM_001267550.2(TTN):c.2760C>T (p.His920=)
|
rs138788406
|
0.00008
|
NM_170707.4(LMNA):c.471G>A (p.Thr157=)
|
rs150645079
|
0.00008
|
NM_000059.4(BRCA2):c.1167G>A (p.Pro389=)
|
rs148607710
|
0.00007
|
NM_000059.4(BRCA2):c.3173A>G (p.Lys1058Arg)
|
rs431825302
|
0.00007
|
NM_000455.5(STK11):c.357C>T (p.Asn119=)
|
rs372511774
|
0.00007
|
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys)
|
rs142920240
|
0.00007
|
NM_001943.5(DSG2):c.3244C>G (p.Pro1082Ala)
|
rs191300661
|
0.00007
|
NM_004006.3(DMD):c.2988A>G (p.Leu996=)
|
rs148835707
|
0.00007
|
NM_032119.4(ADGRV1):c.6684T>A (p.Ser2228=)
|
rs373667458
|
0.00007
|
NM_182961.4(SYNE1):c.20200-3T>C
|
rs770710698
|
0.00007
|
NM_000089.4(COL1A2):c.3047C>A (p.Pro1016His)
|
rs377278762
|
0.00006
|
NM_000142.5(FGFR3):c.272C>T (p.Pro91Leu)
|
rs144995231
|
0.00006
|
NM_000492.4(CFTR):c.2769C>T (p.Ala923=)
|
rs1800108
|
0.00006
|
NM_000492.4(CFTR):c.3964-16T>C
|
rs199672530
|
0.00006
|
NM_000492.4(CFTR):c.4296C>T (p.Asn1432=)
|
rs761669740
|
0.00006
|
NM_000492.4(CFTR):c.663G>A (p.Ala221=)
|
rs758147990
|
0.00006
|
NM_001267550.2(TTN):c.105090C>T (p.Asp35030=)
|
rs72629789
|
0.00006
|
NM_000368.5(TSC1):c.1921C>T (p.Pro641Ser)
|
rs374222196
|
0.00005
|
NM_000463.3(UGT1A1):c.1458C>T (p.Tyr486=)
|
rs142077822
|
0.00005
|
NM_004006.3(DMD):c.145C>T (p.Arg49Cys)
|
rs147548697
|
0.00005
|
NM_004006.3(DMD):c.8322G>A (p.Leu2774=)
|
rs72466575
|
0.00005
|
NM_000059.4(BRCA2):c.6143A>T (p.Asn2048Ile)
|
rs80358853
|
0.00004
|
NM_001267550.2(TTN):c.91749C>T (p.Ser30583=)
|
rs886044458
|
0.00004
|
NM_004006.3(DMD):c.1848C>A (p.Ser616=)
|
rs376024929
|
0.00004
|
NM_006005.3(WFS1):c.1743C>T (p.Gly581=)
|
rs377539343
|
0.00004
|
NM_007294.4(BRCA1):c.425C>A (p.Pro142His)
|
rs55971303
|
0.00004
|
NM_001844.5(COL2A1):c.2410-7C>T
|
rs767041085
|
0.00003
|
NM_003060.4(SLC22A5):c.523G>A (p.Val175Met)
|
rs781721860
|
0.00003
|
NM_003482.4(KMT2D):c.7035G>A (p.Leu2345=)
|
rs398123756
|
0.00003
|
NM_001999.4(FBN2):c.1194C>T (p.Ile398=)
|
rs766004910
|
0.00002
|
NM_004006.3(DMD):c.10677T>C (p.Ile3559=)
|
rs765950547
|
0.00002
|
NM_032409.3(PINK1):c.434C>T (p.Thr145Met)
|
rs45604240
|
0.00002
|
NM_170707.4(LMNA):c.1098G>A (p.Lys366=)
|
rs57901307
|
0.00002
|
NM_000053.4(ATP7B):c.3786C>T (p.Val1262=)
|
rs375007352
|
0.00001
|
NM_000451.4(SHOX):c.723C>T (p.Phe241=)
|
rs886042718
|
0.00001
|
NM_000492.4(CFTR):c.164+12T>C
|
rs121908790
|
0.00001
|
NM_000492.4(CFTR):c.2055A>G (p.Gln685=)
|
rs1457520634
|
0.00001
|
NM_000548.5(TSC2):c.3366T>C (p.Arg1122=)
|
rs778352969
|
0.00001
|
NM_000548.5(TSC2):c.849-8A>G
|
rs765336852
|
0.00001
|
NM_001267550.2(TTN):c.77166T>C (p.Pro25722=)
|
rs757252494
|
0.00001
|
NM_001844.5(COL2A1):c.4326C>T (p.Thr1442=)
|
rs201223454
|
0.00001
|
NM_004006.3(DMD):c.8508C>T (p.Gly2836=)
|
rs374374549
|
0.00001
|
NM_007294.4(BRCA1):c.4097-10G>A
|
rs80358057
|
0.00001
|
NM_182961.4(SYNE1):c.26106G>A (p.Lys8702=)
|
rs765865910
|
0.00001
|
NM_000093.5(COL5A1):c.5350G>A (p.Ala1784Thr)
|
rs143859495
|
|
NM_000138.5(FBN1):c.4998C>T (p.Thr1666=)
|
rs141925790
|
|
NM_000492.4(CFTR):c.1684G>A (p.Val562Ile)
|
rs1800097
|
|
NM_000492.4(CFTR):c.960A>G (p.Leu320=)
|
rs56093012
|
|
NM_000548.5(TSC2):c.3846_3855delinsG (p.Ser1282_Gly1285delinsArg)
|
rs587778732
|
|
NM_000719.7(CACNA1C):c.1218-6C>T
|
rs727503833
|
|
NM_001267550.2(TTN):c.69903C>A (p.Phe23301Leu)
|
rs372799151
|
|
NM_001267550.2(TTN):c.7020C>T (p.Ile2340=)
|
rs587780986
|
|
NM_001267550.2(TTN):c.9618T>C (p.Phe3206=)
|
rs878971586
|
|
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile)
|
rs147157552
|
|
NM_003482.4(KMT2D):c.2992C>A (p.Pro998Thr)
|
rs143711798
|
|
NM_005529.7(HSPG2):c.3707C>A (p.Ala1236Glu)
|
rs113652076
|
|
NM_005529.7(HSPG2):c.6141T>C (p.Asp2047=)
|
rs150129885
|
|
NM_006005.3(WFS1):c.154C>A (p.Pro52Thr)
|
rs111773340
|
|
NM_007294.4(BRCA1):c.548-9del
|
rs273902774
|
|
NM_014639.4(SKIC3):c.4497-14dup
|
rs755628334
|
|
NM_014845.6(FIG4):c.2097-10C>G
|
rs142482745
|
|
NM_017668.3(NDE1):c.947+11989AG[3]
|
rs747642850
|
|
NM_021939.4(FKBP10):c.246-5C>G
|
rs140027863
|
|
NM_024009.3(GJB3):c.652_663del (p.Leu218_Asp221del)
|
rs727503069
|
|
NM_080680.3(COL11A2):c.1637G>A (p.Arg546Gln)
|
rs199866657
|
|