NM_000304.4(PMP22):c.178+22A>G
|
rs231020
|
0.59479
|
NM_000304.4(PMP22):c.179-83T>C
|
rs230950
|
0.56915
|
NM_000304.4(PMP22):c.*59A>C
|
rs13422
|
0.56905
|
NM_000304.4(PMP22):c.319+33C>T
|
rs3744333
|
0.06039
|
NM_001353921.2(ARHGEF9):c.1322-49T>G
|
rs56401522
|
0.03802
|
NM_000348.4(SRD5A2):c.145G>A (p.Ala49Thr)
|
rs9282858
|
0.02117
|
NM_000304.4(PMP22):c.-34-216C>T
|
rs151105938
|
0.01865
|
NM_005912.3(MC4R):c.307G>A (p.Val103Ile)
|
rs2229616
|
0.01533
|
NM_001267550.2(TTN):c.80635C>A (p.Gln26879Lys)
|
rs79926414
|
0.01477
|
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)
|
rs35887622
|
0.00966
|
NM_000348.4(SRD5A2):c.*43G>A
|
rs28383082
|
0.00951
|
NM_000310.4(PPT1):c.*3C>A
|
rs150454815
|
0.00889
|
NM_005912.3(MC4R):c.751A>C (p.Ile251Leu)
|
rs52820871
|
0.00774
|
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys)
|
rs1800100
|
0.00625
|
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala)
|
rs1800098
|
0.00519
|
NM_001267550.2(TTN):c.39895+65G>A
|
rs72650068
|
0.00369
|
NM_001353921.2(ARHGEF9):c.*146G>C
|
rs782358245
|
0.00311
|
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys)
|
rs56268439
|
0.00308
|
NM_000552.5(VWF):c.4457C>T (p.Ser1486Leu)
|
rs149424724
|
0.00282
|
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys)
|
rs1800386
|
0.00237
|
NM_001353921.2(ARHGEF9):c.31-29459T>C
|
rs145382128
|
0.00231
|
NM_006079.5(CITED2):c.479A>T (p.His160Leu)
|
rs111814036
|
0.00211
|
NM_001999.4(FBN2):c.829G>A (p.Val277Ile)
|
rs146849637
|
0.00210
|
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe)
|
rs1800111
|
0.00208
|
NM_152594.3(SPRED1):c.926T>C (p.Val309Ala)
|
rs114636635
|
0.00204
|
NM_001943.5(DSG2):c.1550C>T (p.Ala517Val)
|
rs200509948
|
0.00184
|
NM_000306.4(POU1F1):c.370A>G (p.Met124Val)
|
rs143373007
|
0.00183
|
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe)
|
rs77724903
|
0.00178
|
NM_001130438.3(SPTAN1):c.6234C>T (p.Ala2078=)
|
rs147132904
|
0.00175
|
NM_004366.6(CLCN2):c.1937G>A (p.Arg646Gln)
|
rs115961753
|
0.00156
|
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val)
|
rs61748381
|
0.00150
|
NM_000492.4(CFTR):c.2820T>G (p.Thr940=)
|
rs60887846
|
0.00148
|
NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser)
|
rs145259927
|
0.00137
|
NM_016729.3(FOLR1):c.493+2T>C
|
rs144637717
|
0.00134
|
NM_001080.3(ALDH5A1):c.13A>G (p.Ile5Val)
|
rs200398000
|
0.00096
|
NM_001042492.3(NF1):c.3867C>T (p.Phe1289=)
|
rs138186428
|
0.00089
|
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg)
|
rs200130356
|
0.00081
|
NM_000174.5(GP9):c.182A>G (p.Asn61Ser)
|
rs5030764
|
0.00076
|
NM_000719.7(CACNA1C):c.6272A>G (p.Asn2091Ser)
|
rs201090446
|
0.00074
|
NM_005149.3(TBX19):c.204-3T>C
|
rs200043223
|
0.00069
|
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)
|
rs80338945
|
0.00066
|
NM_003865.3(HESX1):c.385G>A (p.Val129Ile)
|
rs143057250
|
0.00064
|
NM_017617.5(NOTCH1):c.4898G>A (p.Arg1633His)
|
rs375018022
|
0.00064
|
NM_000426.4(LAMA2):c.6128A>G (p.Gln2043Arg)
|
rs144155507
|
0.00063
|
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp)
|
rs145843073
|
0.00063
|
NM_000529.2(MC2R):c.765G>A (p.Met255Ile)
|
rs181640454
|
0.00062
|
NM_002693.3(POLG):c.3131T>C (p.Val1044Ala)
|
rs150233690
|
0.00062
|
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp)
|
rs36210422
|
0.00061
|
NM_000310.4(PPT1):c.364A>T (p.Arg122Trp)
|
rs137852695
|
0.00061
|
NM_017617.5(NOTCH1):c.4168C>A (p.Pro1390Thr)
|
rs191645600
|
0.00061
|
NM_001080.3(ALDH5A1):c.1421A>C (p.Asp474Ala)
|
rs142482046
|
0.00060
|
NM_001110792.2(MECP2):c.411C>A (p.Ile137=)
|
rs146107517
|
0.00059
|
NM_001365536.1(SCN9A):c.1555G>A (p.Glu519Lys)
|
rs187453572
|
0.00059
|
NM_004004.6(GJB2):c.167del (p.Leu56fs)
|
rs80338942
|
0.00058
|
NM_002693.3(POLG):c.678G>C (p.Gln226His)
|
rs147282197
|
0.00056
|
NM_000391.4(TPP1):c.509-1G>C
|
rs56144125
|
0.00053
|
NM_000492.4(CFTR):c.*94C>T
|
rs144214399
|
0.00051
|
NM_001035.3(RYR2):c.8209-3A>G
|
rs376788358
|
0.00047
|
NM_003238.6(TGFB2):c.356C>T (p.Pro119Leu)
|
rs149533093
|
0.00047
|
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)
|
rs76434661
|
0.00047
|
NM_004415.4(DSP):c.2683T>C (p.Tyr895His)
|
rs375891215
|
0.00043
|
NM_000815.5(GABRD):c.775G>A (p.Val259Ile)
|
rs148908731
|
0.00042
|
NM_000197.2(HSD17B3):c.277+4A>T
|
rs201115371
|
0.00038
|
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter)
|
rs137852700
|
0.00038
|
NM_001267550.2(TTN):c.27485C>T (p.Thr9162Met)
|
rs199793620
|
0.00034
|
NM_000529.2(MC2R):c.221G>T (p.Ser74Ile)
|
rs104894658
|
0.00033
|
NM_001040142.2(SCN2A):c.1376A>C (p.Glu459Ala)
|
rs184769423
|
0.00032
|
NM_001182.5(ALDH7A1):c.203C>A (p.Thr68Asn)
|
rs58528748
|
0.00032
|
NM_001267550.2(TTN):c.81302G>T (p.Gly27101Val)
|
rs201490050
|
0.00032
|
NM_000391.4(TPP1):c.1307T>C (p.Leu436Pro)
|
rs150039898
|
0.00031
|
NM_005912.3(MC4R):c.523G>A (p.Ala175Thr)
|
rs121913563
|
0.00031
|
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala)
|
rs143139258
|
0.00029
|
NM_001999.4(FBN2):c.6946A>T (p.Ile2316Phe)
|
rs201220519
|
0.00029
|
NM_144573.4(NEXN):c.242A>T (p.Asp81Val)
|
rs367871780
|
0.00028
|
NM_006279.5(ST3GAL3):c.362G>A (p.Arg121Gln)
|
rs201287443
|
0.00027
|
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter)
|
rs119455955
|
0.00025
|
NM_000163.5(GHR):c.718T>C (p.Tyr240His)
|
rs143814221
|
0.00024
|
NM_001191061.2(SLC25A22):c.679G>A (p.Val227Met)
|
rs200603610
|
0.00024
|
NM_024422.6(DSC2):c.2587G>A (p.Gly863Arg)
|
rs147109895
|
0.00023
|
NM_145020.5(CFAP53):c.46C>T (p.Pro16Ser)
|
rs375198063
|
0.00023
|
NM_014000.3(VCL):c.787A>T (p.Thr263Ser)
|
rs142233726
|
0.00022
|
NM_017547.4(FOXRED1):c.1183G>T (p.Val395Phe)
|
rs767749700
|
0.00022
|
NM_000079.4(CHRNA1):c.319C>T (p.Arg107Cys)
|
rs140268343
|
0.00021
|
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met)
|
rs199473603
|
0.00021
|
NM_001077365.2(POMT1):c.789G>C (p.Leu263Phe)
|
rs201073763
|
0.00021
|
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)
|
rs80338948
|
0.00021
|
NM_001267550.2(TTN):c.93244G>A (p.Glu31082Lys)
|
rs199663613
|
0.00020
|
NM_001378120.1(MBD5):c.599G>A (p.Arg200Gln)
|
rs149278000
|
0.00020
|
NM_020822.3(KCNT1):c.2454C>T (p.Ile818=)
|
rs149452823
|
0.00019
|
NM_000044.6(AR):c.1153G>T (p.Ala385Ser)
|
rs200067740
|
0.00018
|
NM_001110556.2(FLNA):c.3995A>G (p.Asp1332Gly)
|
rs200615848
|
0.00018
|
NM_001482.3(GATM):c.160G>A (p.Asp54Asn)
|
rs780777061
|
0.00017
|
NM_004004.6(GJB2):c.-23+1G>A
|
rs80338940
|
0.00017
|
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln)
|
rs9332964
|
0.00016
|
NM_000348.4(SRD5A2):c.692A>G (p.His231Arg)
|
rs121434251
|
0.00016
|
NM_000393.5(COL5A2):c.2117C>T (p.Pro706Leu)
|
rs146175905
|
0.00016
|
NM_002474.3(MYH11):c.3291C>T (p.Ala1097=)
|
rs147605116
|
0.00016
|
NM_004004.6(GJB2):c.355G>A (p.Glu119Lys)
|
rs150529554
|
0.00016
|
NM_000348.4(SRD5A2):c.547G>A (p.Gly183Ser)
|
rs121434247
|
0.00015
|
NM_000348.4(SRD5A2):c.586G>A (p.Gly196Ser)
|
rs121434250
|
0.00015
|
NM_000540.3(RYR1):c.7902C>A (p.Asn2634Lys)
|
rs148041292
|
0.00015
|
NM_000817.3(GAD1):c.80C>A (p.Thr27Lys)
|
rs77655188
|
0.00015
|
NM_001378120.1(MBD5):c.3678G>C (p.Gln1226His)
|
rs148321416
|
0.00015
|
NM_007078.3(LDB3):c.826C>T (p.Arg276Cys)
|
rs397517226
|
0.00015
|
NM_030777.4(SLC2A10):c.1370C>T (p.Ala457Val)
|
rs201393026
|
0.00015
|
NM_000044.6(AR):c.475G>A (p.Ala159Thr)
|
rs370215797
|
0.00014
|
NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg)
|
rs200450676
|
0.00014
|
NM_001103.4(ACTN2):c.1930G>A (p.Ala644Thr)
|
rs146164600
|
0.00014
|
NM_001927.4(DES):c.893C>T (p.Ser298Leu)
|
rs62636491
|
0.00014
|
NM_005912.3(MC4R):c.757G>A (p.Val253Ile)
|
rs187152753
|
0.00014
|
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter)
|
rs104894398
|
0.00013
|
NM_005912.2(MC4R):c.105C>A (p.Tyr35Ter)
|
rs13447324
|
0.00013
|
NM_005912.2(MC4R):c.110A>T (p.Asp37Val)
|
rs13447325
|
0.00013
|
NM_001105206.3(LAMA4):c.5270C>T (p.Pro1757Leu)
|
rs200177134
|
0.00012
|
NM_053025.4(MYLK):c.2474C>T (p.Pro825Leu)
|
rs201332554
|
0.00012
|
NM_001148.6(ANK2):c.1673T>C (p.Leu558Ser)
|
rs139199018
|
0.00011
|
NM_002230.4(JUP):c.352G>A (p.Glu118Lys)
|
rs149004293
|
0.00011
|
NM_005670.4(EPM2A):c.743C>T (p.Ala248Val)
|
rs374043005
|
0.00011
|
NM_005912.3(MC4R):c.806T>A (p.Ile269Asn)
|
rs79783591
|
0.00011
|
NM_032578.4(MYPN):c.1012C>T (p.Arg338Cys)
|
rs140037748
|
0.00011
|
NM_153026.3(PRICKLE1):c.1601G>A (p.Arg534Gln)
|
rs756192425
|
0.00011
|
NM_000238.4(KCNH2):c.2944G>A (p.Asp982Asn)
|
rs569452580
|
0.00010
|
NM_000492.4(CFTR):c.92G>T (p.Arg31Leu)
|
rs149353983
|
0.00010
|
NM_000925.4(PDHB):c.10G>A (p.Val4Met)
|
rs201470762
|
0.00010
|
NM_000197.2(HSD17B3):c.239G>A (p.Arg80Gln)
|
rs119481075
|
0.00009
|
NM_000348.4(SRD5A2):c.377A>G (p.Gln126Arg)
|
rs368386747
|
0.00009
|
NM_000348.4(SRD5A2):c.737G>A (p.Arg246Gln)
|
rs9332967
|
0.00009
|
NM_001365536.1(SCN9A):c.328T>C (p.Ser110Pro)
|
rs201503351
|
0.00009
|
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)
|
rs104894408
|
0.00009
|
NM_000163.5(GHR):c.703C>T (p.Arg235Ter)
|
rs121909363
|
0.00008
|
NM_004004.6(GJB2):c.370C>T (p.Gln124Ter)
|
rs397516874
|
0.00008
|
NM_014000.3(VCL):c.1490T>C (p.Ile497Thr)
|
rs572757800
|
0.00008
|
NM_178138.6(LHX3):c.281A>T (p.Gln94Leu)
|
rs758634719
|
0.00008
|
NM_178138.6(LHX3):c.309G>T (p.Val103=)
|
rs766945737
|
0.00008
|
NM_000093.5(COL5A1):c.4748C>T (p.Thr1583Met)
|
rs375076580
|
0.00007
|
NM_000093.5(COL5A1):c.2114C>T (p.Pro705Leu)
|
rs375456811
|
0.00006
|
NM_000138.5(FBN1):c.7099G>A (p.Gly2367Arg)
|
rs368978109
|
0.00006
|
NM_000348.4(SRD5A2):c.635C>G (p.Pro212Arg)
|
rs121434252
|
0.00006
|
NM_001035.3(RYR2):c.2573C>T (p.Thr858Met)
|
rs377068202
|
0.00006
|
NM_001134363.3(RBM20):c.3545G>A (p.Arg1182His)
|
rs563762318
|
0.00006
|
NM_001182.5(ALDH7A1):c.1150G>A (p.Ala384Thr)
|
rs140947675
|
0.00006
|
NM_001191061.2(SLC25A22):c.46G>A (p.Gly16Ser)
|
rs149569043
|
0.00006
|
NM_001267550.2(TTN):c.76566_76568dup (p.Arg25523dup)
|
rs772268958
|
0.00006
|
NM_002834.5(PTPN11):c.392A>G (p.Lys131Arg)
|
rs397516805
|
0.00006
|
NM_004366.6(CLCN2):c.302T>C (p.Met101Thr)
|
rs546781274
|
0.00006
|
NM_170707.4(LMNA):c.1567G>A (p.Gly523Arg)
|
rs201583907
|
0.00006
|
NM_000197.2(HSD17B3):c.845C>T (p.Pro282Leu)
|
rs144809928
|
0.00005
|
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn)
|
rs74315445
|
0.00005
|
NM_000257.4(MYH7):c.1988G>A (p.Arg663His)
|
rs371898076
|
0.00005
|
NM_000742.4(CHRNA2):c.202C>T (p.Arg68Trp)
|
rs376970816
|
0.00005
|
NM_001042492.3(NF1):c.2188A>T (p.Asn730Tyr)
|
rs758893131
|
0.00005
|
NM_001379200.1(TBX1):c.1474G>A (p.Gly492Arg)
|
rs541198585
|
0.00005
|
NM_003673.4(TCAP):c.113G>T (p.Cys38Phe)
|
rs375310569
|
0.00005
|
NM_005149.3(TBX19):c.1310C>T (p.Ala437Val)
|
rs147003438
|
0.00005
|
NM_005149.3(TBX19):c.856C>T (p.Arg286Ter)
|
rs74315376
|
0.00005
|
NM_000079.4(CHRNA1):c.1321G>A (p.Gly441Arg)
|
rs768407867
|
0.00004
|
NM_000197.2(HSD17B3):c.278-1G>C
|
rs149607031
|
0.00004
|
NM_000197.2(HSD17B3):c.614T>A (p.Val205Glu)
|
rs372027264
|
0.00004
|
NM_000348.4(SRD5A2):c.679C>T (p.Arg227Ter)
|
rs121434248
|
0.00004
|
NM_000529.2(MC2R):c.433C>T (p.Arg145Cys)
|
rs139218324
|
0.00004
|
NM_000552.5(VWF):c.4115T>G (p.Ile1372Ser)
|
rs61750070
|
0.00004
|
NM_001127222.2(CACNA1A):c.4371G>A (p.Thr1457=)
|
rs368100270
|
0.00004
|
NM_001267550.2(TTN):c.6958C>T (p.Arg2320Cys)
|
rs776478343
|
0.00004
|
NM_001378120.1(MBD5):c.4970C>A (p.Pro1657His)
|
rs775673512
|
0.00004
|
NM_002471.4(MYH6):c.3413G>A (p.Arg1138His)
|
rs745801044
|
0.00004
|
NM_002474.3(MYH11):c.3560C>T (p.Thr1187Met)
|
rs552818350
|
0.00004
|
NM_002474.3(MYH11):c.3563G>A (p.Arg1188Gln)
|
rs746615097
|
0.00004
|
NM_004415.4(DSP):c.8117A>T (p.Lys2706Met)
|
rs537588390
|
0.00004
|
NM_005149.3(TBX19):c.535C>T (p.Arg179Ter)
|
rs200197424
|
0.00004
|
NM_005159.5(ACTC1):c.56_57insCA (p.Lys20fs)
|
rs730880387
|
0.00004
|
NM_005633.4(SOS1):c.3392G>A (p.Arg1131Lys)
|
rs768113420
|
0.00004
|
NM_017547.4(FOXRED1):c.1454T>A (p.Ile485Asn)
|
rs770063137
|
0.00004
|
NM_017780.4(CHD7):c.6088G>A (p.Val2030Ile)
|
rs143796440
|
0.00004
|
NM_153033.5(KCTD7):c.506G>A (p.Arg169Gln)
|
rs745917176
|
0.00004
|
NM_201596.3(CACNB2):c.1433G>A (p.Arg478His)
|
rs781646326
|
0.00004
|
NM_000071.3(CBS):c.1280C>T (p.Pro427Leu)
|
rs863223434
|
0.00003
|
NM_000079.4(CHRNA1):c.410C>T (p.Thr137Met)
|
rs780391418
|
0.00003
|
NM_000335.5(SCN5A):c.3715G>C (p.Glu1239Gln)
|
rs199473211
|
0.00003
|
NM_000348.4(SRD5A2):c.271T>G (p.Tyr91Asp)
|
rs201175894
|
0.00003
|
NM_000348.4(SRD5A2):c.534C>A (p.Tyr178Ter)
|
rs1200261940
|
0.00003
|
NM_000348.4(SRD5A2):c.578A>G (p.Asn193Ser)
|
rs763296857
|
0.00003
|
NM_000388.4(CASR):c.2303G>T (p.Gly768Val)
|
rs201858689
|
0.00003
|
NM_000548.5(TSC2):c.538C>G (p.Leu180Val)
|
rs45485591
|
0.00003
|
NM_001148.6(ANK2):c.7136C>A (p.Thr2379Lys)
|
rs753351853
|
0.00003
|
NM_001354712.2(THRB):c.*4G>A
|
rs777224982
|
0.00003
|
NM_001379200.1(TBX1):c.1401C>G (p.Pro467=)
|
rs753192876
|
0.00003
|
NM_004004.6(GJB2):c.169C>T (p.Gln57Ter)
|
rs111033297
|
0.00003
|
NM_004004.6(GJB2):c.298C>T (p.His100Tyr)
|
rs143343083
|
0.00003
|
NM_004004.6(GJB2):c.550C>T (p.Arg184Trp)
|
rs998045226
|
0.00003
|
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro)
|
rs80338950
|
0.00003
|
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu)
|
rs397516878
|
0.00003
|
NM_004006.3(DMD):c.1812+1G>A
|
rs373286166
|
0.00003
|
NM_005912.3(MC4R):c.449C>T (p.Thr150Ile)
|
rs766665118
|
0.00003
|
NM_012082.4(ZFPM2):c.1318A>G (p.Lys440Glu)
|
rs200311467
|
0.00003
|
NM_017617.5(NOTCH1):c.2458C>T (p.Pro820Ser)
|
rs1379596542
|
0.00003
|
NM_020822.3(KCNT1):c.1407C>G (p.His469Gln)
|
rs537722828
|
0.00003
|
NM_020822.3(KCNT1):c.3072C>T (p.Arg1024=)
|
rs141695705
|
0.00003
|
NM_020975.6(RET):c.884C>G (p.Thr295Arg)
|
rs758159521
|
0.00003
|
NM_030777.4(SLC2A10):c.929C>T (p.Ser310Phe)
|
rs763521707
|
0.00003
|
NM_198859.4(PRICKLE2):c.894C>T (p.Leu298=)
|
rs372232760
|
0.00003
|
NM_198904.4(GABRG2):c.406C>T (p.Arg136Ter)
|
rs796052504
|
0.00003
|
NM_000197.2(HSD17B3):c.397G>A (p.Gly133Arg)
|
rs747724352
|
0.00002
|
NM_000256.3(MYBPC3):c.927-9G>A
|
rs397516083
|
0.00002
|
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln)
|
rs193922390
|
0.00002
|
NM_000348.4(SRD5A2):c.16C>T (p.Gln6Ter)
|
rs9332960
|
0.00002
|
NM_000348.4(SRD5A2):c.344G>A (p.Gly115Asp)
|
rs121434246
|
0.00002
|
NM_000348.4(SRD5A2):c.548-9T>G
|
rs1057519061
|
0.00002
|
NM_000348.4(SRD5A2):c.598G>A (p.Glu200Lys)
|
rs756853742
|
0.00002
|
NM_000348.4(SRD5A2):c.607G>A (p.Gly203Ser)
|
rs9332961
|
0.00002
|
NM_000529.2(MC2R):c.634del (p.Arg212fs)
|
rs1226345778
|
0.00002
|
NM_000817.3(GAD1):c.1246A>G (p.Ile416Val)
|
rs749599647
|
0.00002
|
NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg)
|
rs747538224
|
0.00002
|
NM_001378120.1(MBD5):c.2789A>C (p.Gln930Pro)
|
rs564759063
|
0.00002
|
NM_002474.3(MYH11):c.2139G>C (p.Gln713His)
|
rs779897931
|
0.00002
|
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)
|
rs104894396
|
0.00002
|
NM_004415.4(DSP):c.6397G>A (p.Gly2133Ser)
|
rs372393122
|
0.00002
|
NM_005120.3(MED12):c.5476C>T (p.Pro1826Ser)
|
rs867576281
|
0.00002
|
NM_020975.6(RET):c.406G>A (p.Glu136Lys)
|
rs79014735
|
0.00002
|
NM_020975.6(RET):c.867+4del
|
rs398124368
|
0.00002
|
NM_000044.6(AR):c.2343G>A (p.Met781Ile)
|
rs137852589
|
0.00001
|
NM_000044.6(AR):c.2612C>T (p.Ala871Val)
|
rs143040492
|
0.00001
|
NM_000044.6(AR):c.2668G>A (p.Val890Met)
|
rs886041133
|
0.00001
|
NM_000061.3(BTK):c.1475G>A (p.Arg492His)
|
rs782338603
|
0.00001
|
NM_000088.4(COL1A1):c.3421C>T (p.Arg1141Ter)
|
rs72656314
|
0.00001
|
NM_000093.5(COL5A1):c.2065C>T (p.Pro689Ser)
|
rs943838033
|
0.00001
|
NM_000138.5(FBN1):c.7339G>A (p.Glu2447Lys)
|
rs137854464
|
0.00001
|
NM_000163.5(GHR):c.168C>A (p.Cys56Ter)
|
rs121909359
|
0.00001
|
NM_000163.5(GHR):c.508G>C (p.Asp170His)
|
rs121909366
|
0.00001
|
NM_000174.5(GP9):c.337del (p.Cys113fs)
|
rs1297298519
|
0.00001
|
NM_000197.2(HSD17B3):c.238C>T (p.Arg80Trp)
|
rs119481077
|
0.00001
|
NM_000218.3(KCNQ1):c.520C>T (p.Arg174Cys)
|
rs199472696
|
0.00001
|
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu)
|
rs199473456
|
0.00001
|
NM_000233.4(LHCGR):c.1635C>A (p.Cys545Ter)
|
rs121912523
|
0.00001
|
NM_000252.3(MTM1):c.1261C>T (p.Arg421Ter)
|
rs587783771
|
0.00001
|
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter)
|
rs397516037
|
0.00001
|
NM_000304.4(PMP22):c.319+14G>T
|
rs1567704579
|
0.00001
|
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys)
|
rs121913293
|
0.00001
|
NM_000335.5(SCN5A):c.4716C>T (p.Gly1572=)
|
rs754221948
|
0.00001
|
NM_000348.4(SRD5A2):c.169G>C (p.Glu57Gln)
|
rs750444774
|
0.00001
|
NM_000348.4(SRD5A2):c.554T>C (p.Leu185Ser)
|
rs574377752
|
0.00001
|
NM_000348.4(SRD5A2):c.59T>C (p.Leu20Pro)
|
rs761824859
|
0.00001
|
NM_000391.4(TPP1):c.617G>A (p.Arg206His)
|
rs121908209
|
0.00001
|
NM_000432.4(MYL2):c.31G>A (p.Gly11Arg)
|
rs397516402
|
0.00001
|
NM_000492.4(CFTR):c.1394C>A (p.Thr465Asn)
|
rs758900656
|
0.00001
|
NM_000516.7(GNAS):c.601C>T (p.Arg201Cys)
|
rs11554273
|
0.00001
|
NM_000529.2(MC2R):c.409C>T (p.Arg137Trp)
|
rs104894660
|
0.00001
|
NM_000744.7(CHRNA4):c.1721T>C (p.Ile574Thr)
|
rs139657121
|
0.00001
|
NM_001037.5(SCN1B):c.85G>A (p.Glu29Lys)
|
rs767384862
|
0.00001
|
NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter)
|
rs768638173
|
0.00001
|
NM_001042492.3(NF1):c.4373A>G (p.Glu1458Gly)
|
rs878853894
|
0.00001
|
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter)
|
rs760703505
|
0.00001
|
NM_001042492.3(NF1):c.7211C>T (p.Ala2404Val)
|
rs771706364
|
0.00001
|
NM_001105206.3(LAMA4):c.1643T>C (p.Leu548Pro)
|
rs1562683086
|
0.00001
|
NM_001105206.3(LAMA4):c.4607G>T (p.Gly1536Val)
|
rs368316926
|
0.00001
|
NM_001130438.3(SPTAN1):c.3133C>T (p.Arg1045Trp)
|
rs794727356
|
0.00001
|
NM_001182.5(ALDH7A1):c.312+1G>A
|
rs199497486
|
0.00001
|
NM_001354712.2(THRB):c.1029T>G (p.Asn343Lys)
|
rs1354053223
|
0.00001
|
NM_001354712.2(THRB):c.1286G>A (p.Arg429Gln)
|
rs1553609210
|
0.00001
|
NM_001354712.2(THRB):c.1312C>T (p.Arg438Cys)
|
rs367757240
|
0.00001
|
NM_001354712.2(THRB):c.1313G>A (p.Arg438His)
|
rs121918698
|
0.00001
|
NM_001354712.2(THRB):c.1357C>G (p.Pro453Ala)
|
rs28933408
|
0.00001
|
NM_001354712.2(THRB):c.727C>T (p.Arg243Trp)
|
rs121918707
|
0.00001
|
NM_001613.4(ACTA2):c.445C>T (p.Arg149Cys)
|
rs121434526
|
0.00001
|
NM_002471.4(MYH6):c.4780C>T (p.Arg1594Trp)
|
rs545198745
|
0.00001
|
NM_002693.3(POLG):c.2419C>T (p.Arg807Cys)
|
rs769827124
|
0.00001
|
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met)
|
rs121918457
|
0.00001
|
NM_003865.3(HESX1):c.240del (p.Glu81fs)
|
rs777833871
|
0.00001
|
NM_003865.3(HESX1):c.308T>A (p.Leu103Ter)
|
rs777223697
|
0.00001
|
NM_003865.3(HESX1):c.313T>G (p.Trp105Gly)
|
rs754137696
|
0.00001
|
NM_004004.6(GJB2):c.269dup (p.Val91fs)
|
rs730880338
|
0.00001
|
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile)
|
rs111033295
|
0.00001
|
NM_004371.4(COPA):c.698G>A (p.Arg233His)
|
rs794727993
|
0.00001
|
NM_005149.3(TBX19):c.916+2T>G
|
rs763382655
|
0.00001
|
NM_005912.3(MC4R):c.161T>C (p.Leu54Pro)
|
rs376439188
|
0.00001
|
NM_005912.3(MC4R):c.181G>A (p.Glu61Lys)
|
rs370479598
|
0.00001
|
NM_005912.3(MC4R):c.838T>C (p.Phe280Leu)
|
rs756232889
|
0.00001
|
NM_007254.4(PNKP):c.1389T>G (p.Phe463Leu)
|
rs763116781
|
0.00001
|
NM_020975.6(RET):c.1900T>C (p.Cys634Arg)
|
rs75076352
|
0.00001
|
NM_024422.6(DSC2):c.2648T>G (p.Phe883Cys)
|
rs374178074
|
0.00001
|
NM_033343.4(LHX4):c.740A>T (p.Glu247Val)
|
rs766381404
|
0.00001
|
NM_144670.6(A2ML1):c.3397A>C (p.Asn1133His)
|
rs1466413438
|
0.00001
|
NM_145239.3(PRRT2):c.125C>T (p.Pro42Leu)
|
rs1166053009
|
0.00001
|
NM_172107.4(KCNQ2):c.1627G>A (p.Val543Met)
|
rs794727134
|
0.00001
|
NM_000044.6(AR):c.1185C>A (p.Tyr395Ter)
|
rs1555969807
|
|
NM_000044.6(AR):c.1688G>A (p.Cys563Tyr)
|
rs1555982860
|
|
NM_000044.6(AR):c.1739G>A (p.Cys580Tyr)
|
rs137852586
|
|
NM_000044.6(AR):c.1768+2T>C
|
rs1555982894
|
|
NM_000044.6(AR):c.1814A>G (p.Asp605Gly)
|
rs1555990478
|
|
NM_000044.6(AR):c.1888del (p.Arg630fs)
|
rs1555995750
|
|
NM_000044.6(AR):c.2044G>A (p.Glu682Lys)
|
rs1555995816
|
|
NM_000044.6(AR):c.2086G>A (p.Asp696Asn)
|
rs1555995840
|
|
NM_000044.6(AR):c.2104C>T (p.Leu702Phe)
|
rs1555995851
|
|
NM_000044.6(AR):c.2117A>G (p.Asn706Ser)
|
rs925822435
|
|
NM_000044.6(AR):c.214C>T (p.Gln72Ter)
|
rs1555969512
|
|
NM_000044.6(AR):c.2155T>C (p.Trp719Arg)
|
rs1555995865
|
|
NM_000044.6(AR):c.2171C>T (p.Pro724Leu)
|
rs1555995877
|
|
NM_000044.6(AR):c.217C>T (p.Gln73Ter)
|
rs1199988820
|
|
NM_000044.6(AR):c.220C>T (p.Gln74Ter)
|
rs886041129
|
|
NM_000044.6(AR):c.2258G>A (p.Arg753Gln)
|
rs1057523747
|
|
NM_000044.6(AR):c.2266del (p.Thr756fs)
|
rs1555996855
|
|
NM_000044.6(AR):c.2296G>A (p.Ala766Thr)
|
rs1555996863
|
|
NM_000044.6(AR):c.2299C>G (p.Pro767Ala)
|
rs1555996867
|
|
NM_000044.6(AR):c.2309T>G (p.Val770Gly)
|
rs1555996870
|
|
NM_000044.6(AR):c.2323C>T (p.Arg775Cys)
|
rs137852562
|
|
NM_000044.6(AR):c.2437C>T (p.Leu813Phe)
|
rs1555997625
|
|
NM_000044.6(AR):c.2512G>A (p.Glu838Lys)
|
rs1555997775
|
|
NM_000044.6(AR):c.2521C>T (p.Arg841Cys)
|
rs137852577
|
|
NM_000044.6(AR):c.2522G>A (p.Arg841His)
|
rs9332969
|
|
NM_000044.6(AR):c.2562_2563del (p.Arg855fs)
|
rs1555997799
|
|
NM_000044.6(AR):c.2566C>T (p.Arg856Cys)
|
rs886041132
|
|
NM_000044.6(AR):c.2567G>A (p.Arg856His)
|
rs9332971
|
|
NM_000044.6(AR):c.2593G>A (p.Asp865Asn)
|
rs1555997810
|
|
NM_000044.6(AR):c.2599G>A (p.Val867Met)
|
rs137852564
|
|
NM_000044.6(AR):c.2613del (p.Arg872fs)
|
rs1555998085
|
|
NM_000044.6(AR):c.2633C>T (p.Thr878Ile)
|
rs137852580
|
|
NM_000044.6(AR):c.2667C>T (p.Ser889=)
|
rs137852594
|
|
NM_000044.6(AR):c.2683ATG[1] (p.Met896del)
|
rs1555998102
|
|
NM_000044.6(AR):c.2720_2721del (p.Ile907fs)
|
rs1555998114
|
|
NM_000044.6(AR):c.743G>T (p.Gly248Val)
|
rs1555969682
|
|
NM_000044.6(AR):c.796dup (p.Asp266fs)
|
rs1555969694
|
|
NM_000061.3(BTK):c.1116G>C (p.Arg372Ser)
|
rs1555978024
|
|
NM_000061.3(BTK):c.141+3_141+6del
|
rs1555980866
|
|
NM_000061.3(BTK):c.1558C>T (p.Arg520Ter)
|
rs128621201
|
|
NM_000061.3(BTK):c.1567-2A>T
|
rs1555977598
|
|
NM_000061.3(BTK):c.1574G>A (p.Arg525Gln)
|
rs128620183
|
|
NM_000061.3(BTK):c.1581_1584del (p.Cys527fs)
|
rs1555977592
|
|
NM_000061.3(BTK):c.161del (p.Gly54fs)
|
rs1555980799
|
|
NM_000061.3(BTK):c.1630_1631+3delinsGAAA
|
rs1555977580
|
|
NM_000061.3(BTK):c.1684C>T (p.Arg562Trp)
|
rs128621204
|
|
NM_000061.3(BTK):c.1706T>C (p.Leu569Pro)
|
rs1555977461
|
|
NM_000061.3(BTK):c.1946del (p.Ser649fs)
|
rs1555976766
|
|
NM_000061.3(BTK):c.371G>A (p.Trp124Ter)
|
rs1555980049
|
|
NM_000061.3(BTK):c.435C>A (p.Cys145Ter)
|
rs1555978891
|
|
NM_000061.3(BTK):c.763C>T (p.Arg255Ter)
|
rs128621193
|
|
NM_000061.3(BTK):c.83G>A (p.Arg28His)
|
rs128620185
|
|
NM_000061.3(BTK):c.863G>A (p.Arg288Gln)
|
rs1555978277
|
|
NM_000061.3(BTK):c.953C>T (p.Ser318Phe)
|
rs1555978197
|
|
NM_000079.4(CHRNA1):c.710A>T (p.Asn237Ile)
|
rs1558911753
|
|
NM_000088.4(COL1A1):c.1201-1G>A
|
rs72648321
|
|
NM_000088.4(COL1A1):c.4003C>T (p.Gln1335Ter)
|
rs868166455
|
|
NM_000090.3(COL3A1):c.638_639delinsAA (p.Gly213Glu)
|
rs1553507345
|
|
NM_000090.4(COL3A1):c.3008T>C (p.Leu1003Pro)
|
rs1553509307
|
|
NM_000093.5(COL5A1):c.515T>A (p.Val172Asp)
|
rs1554781678
|
|
NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del)
|
rs80358233
|
|
NM_000116.5(TAFAZZIN):c.367C>T (p.Arg123Ter)
|
rs1569552731
|
|
NM_000138.5(FBN1):c.1468+5G>A
|
rs397515757
|
|
NM_000138.5(FBN1):c.1659del (p.His554fs)
|
rs1566915277
|
|
NM_000138.5(FBN1):c.2248T>C (p.Cys750Arg)
|
rs1555399368
|
|
NM_000138.5(FBN1):c.2269del (p.Asp757fs)
|
rs1064793636
|
|
NM_000138.5(FBN1):c.2893G>A (p.Glu965Lys)
|
rs748905831
|
|
NM_000138.5(FBN1):c.3081del (p.Asp1028fs)
|
rs1555398774
|
|
NM_000138.5(FBN1):c.3217G>A (p.Glu1073Lys)
|
rs137854478
|
|
NM_000138.5(FBN1):c.3513C>G (p.Cys1171Trp)
|
rs775417975
|
|
NM_000138.5(FBN1):c.4061G>A (p.Trp1354Ter)
|
rs1060501039
|
|
NM_000138.5(FBN1):c.4088-2A>C
|
rs1555397671
|
|
NM_000138.5(FBN1):c.4937G>T (p.Cys1646Phe)
|
rs397515814
|
|
NM_000138.5(FBN1):c.5743C>T (p.Arg1915Cys)
|
rs1555395826
|
|
NM_000138.5(FBN1):c.6662G>A (p.Cys2221Tyr)
|
rs137854460
|
|
NM_000138.5(FBN1):c.7048A>G (p.Ile2350Val)
|
rs794728263
|
|
NM_000138.5(FBN1):c.7649G>A (p.Cys2550Tyr)
|
rs1555394196
|
|
NM_000138.5(FBN1):c.8059_8060del (p.Val2687fs)
|
rs2042873946
|
|
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg)
|
rs28931614
|
|
NM_000142.5(FGFR3):c.1172C>A (p.Ala391Glu)
|
rs28931615
|
|
NM_000142.5(FGFR3):c.1620C>A (p.Asn540Lys)
|
rs28933068
|
|
NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys)
|
rs28933068
|
|
NM_000142.5(FGFR3):c.1948A>C (p.Lys650Gln)
|
rs78311289
|
|
NM_000152.5(GAA):c.-32-18C>G
|
rs771367579
|
|
NM_000163.5(GHR):c.12G>C (p.Trp4Cys)
|
rs1554020272
|
|
NM_000163.5(GHR):c.364T>C (p.Trp122Arg)
|
rs190314158
|
|
NM_000163.5(GHR):c.945G>A (p.Lys315=)
|
rs1554040858
|
|
NM_000195.5(HPS1):c.1472_1487dup (p.His497fs)
|
rs281865163
|
|
NM_000197.2(HSD17B3):c.121_122del (p.Lys41fs)
|
rs1554705693
|
|
NM_000197.2(HSD17B3):c.383T>C (p.Leu128Ser)
|
rs767765046
|
|
NM_000197.2(HSD17B3):c.414_416del (p.Leu139del)
|
rs1554694678
|
|
NM_000197.2(HSD17B3):c.454-1G>A
|
rs1554694264
|
|
NM_000197.2(HSD17B3):c.578C>A (p.Pro193His)
|
rs773720185
|
|
NM_000197.2(HSD17B3):c.608C>T (p.Ala203Val)
|
rs119481076
|
|
NM_000218.3(KCNQ1):c.1032G>T (p.Ala344=)
|
rs1800171
|
|
NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe)
|
rs199472804
|
|
NM_000218.3(KCNQ1):c.1702G>A (p.Gly568Arg)
|
rs199472807
|
|
NM_000218.3(KCNQ1):c.757T>C (p.Ser253Pro)
|
rs764781840
|
|
NM_000218.3(KCNQ1):c.796del (p.Leu266fs)
|
rs397508125
|
|
NM_000218.3(KCNQ1):c.825CTC[1] (p.Ser277del)
|
rs397508127
|
|
NM_000218.3(KCNQ1):c.944A>G (p.Tyr315Cys)
|
rs74462309
|
|
NM_000233.4(LHCGR):c.1193T>C (p.Met398Thr)
|
rs121912526
|
|
NM_000233.4(LHCGR):c.1691A>G (p.Asp564Gly)
|
rs121912540
|
|
NM_000233.4(LHCGR):c.1733A>G (p.Asp578Gly)
|
rs121912518
|
|
NM_000233.4(LHCGR):c.1869T>G (p.Tyr623Ter)
|
rs144859947
|
|
NM_000233.4(LHCGR):c.370C>T (p.Arg124Ter)
|
rs773279269
|
|
NM_000233.4(LHCGR):c.580T>G (p.Phe194Val)
|
rs750481017
|
|
NM_000252.3(MTM1):c.1053+1G>A
|
rs587783751
|
|
NM_000252.3(MTM1):c.1053+5G>A
|
rs1557414132
|
|
NM_000252.3(MTM1):c.1089dup (p.Val364fs)
|
rs587783752
|
|
NM_000252.3(MTM1):c.1225A>G (p.Lys409Glu)
|
rs1569565526
|
|
NM_000252.3(MTM1):c.1261-10A>G
|
rs397518445
|
|
NM_000252.3(MTM1):c.1381C>T (p.Gln461Ter)
|
rs782234944
|
|
NM_000252.3(MTM1):c.205C>T (p.Arg69Cys)
|
rs132630304
|
|
NM_000252.3(MTM1):c.342_342+4del
|
rs797045717
|
|
NM_000252.3(MTM1):c.593A>C (p.Tyr198Ser)
|
rs1569565497
|
|
NM_000252.3(MTM1):c.664C>T (p.Arg222Ter)
|
rs587783847
|
|
NM_000252.3(MTM1):c.676C>A (p.Pro226Thr)
|
rs587783848
|
|
NM_000252.3(MTM1):c.757C>T (p.Arg253Ter)
|
rs587783854
|
|
NM_000252.3(MTM1):c.969dup (p.Val324fs)
|
rs587783865
|
|
NM_000257.4(MYH7):c.1030G>C (p.Glu344Gln)
|
rs730880862
|
|
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr)
|
rs397516088
|
|
NM_000257.4(MYH7):c.1112_1117del (p.Glu371_Gln372del)
|
rs1566535829
|
|
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln)
|
rs121913641
|
|
NM_000257.4(MYH7):c.2221G>T (p.Gly741Trp)
|
rs121913632
|
|
NM_000257.4(MYH7):c.732+2T>G
|
rs1555338658
|
|
NM_000258.3(MYL3):c.188G>C (p.Arg63Pro)
|
rs139354105
|
|
NM_000268.4(NF2):c.180G>A (p.Trp60Ter)
|
rs780872661
|
|
NM_000268.4(NF2):c.43A>T (p.Lys15Ter)
|
rs1555978356
|
|
NM_000302.4(PLOD1):c.775C>T (p.Arg259Cys)
|
rs1181531160
|
|
NM_000306.4(POU1F1):c.500A>C (p.Gln167Pro)
|
rs1559614730
|
|
NM_000310.4(PPT1):c.169dup (p.Met57fs)
|
rs386833634
|
|
NM_000310.4(PPT1):c.536+1G>A
|
rs386833651
|
|
NM_000314.8(PTEN):c.152_160dup (p.Asp51_Val53dup)
|
rs1564814602
|
|
NM_000314.8(PTEN):c.193T>A (p.Tyr65Asn)
|
rs587780005
|
|
NM_000314.8(PTEN):c.197A>T (p.Lys66Met)
|
rs1564826805
|
|
NM_000314.8(PTEN):c.253+5G>A
|
rs1554897889
|
|
NM_000314.8(PTEN):c.30C>G (p.Ser10Arg)
|
rs1564801689
|
|
NM_000314.8(PTEN):c.675T>G (p.Tyr225Ter)
|
rs1057520900
|
|
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter)
|
rs121909219
|
|
NM_000314.8(PTEN):c.70G>C (p.Asp24His)
|
rs786201995
|
|
NM_000314.8(PTEN):c.838A>G (p.Ile280Val)
|
rs1474354667
|
|
NM_000325.6(PITX2):c.307C>T (p.Gln103Ter)
|
rs1553922901
|
|
NM_000335.5(SCN5A):c.1109C>T (p.Thr370Met)
|
rs199473099
|
|
NM_000335.5(SCN5A):c.2533del (p.Val845fs)
|
rs794728912
|
|
NM_000335.5(SCN5A):c.4219G>A (p.Gly1407Arg)
|
rs137854612
|
|
NM_000348.4(SRD5A2):c.205G>T (p.Ala69Ser)
|
rs1553329443
|
|
NM_000348.4(SRD5A2):c.271T>C (p.Tyr91His)
|
rs201175894
|
|
NM_000348.4(SRD5A2):c.282-2A>G
|
rs1340425455
|
|
NM_000348.4(SRD5A2):c.446-10_446-8del
|
rs758063160
|
|
NM_000348.4(SRD5A2):c.537G>A (p.Arg179=)
|
rs767928056
|
|
NM_000348.4(SRD5A2):c.548-5C>G
|
rs753272225
|
|
NM_000348.4(SRD5A2):c.682G>A (p.Ala228Thr)
|
rs121434249
|
|
NM_000348.4(SRD5A2):c.729del (p.Lys244fs)
|
rs1553323033
|
|
NM_000363.5(TNNI3):c.544G>A (p.Glu182Lys)
|
rs397516355
|
|
NM_000368.5(TSC1):c.954GTT[1] (p.Leu320del)
|
rs755655903
|
|
NM_000391.4(TPP1):c.237C>G (p.Tyr79Ter)
|
rs1564855860
|
|
NM_000475.5(NR0B1):c.1123_1124insT (p.Thr375fs)
|
rs1555972957
|
|
NM_000475.5(NR0B1):c.1142T>C (p.Leu381Pro)
|
rs104894899
|
|
NM_000475.5(NR0B1):c.1168+1_1168+20del
|
rs1555972943
|
|
NM_000475.5(NR0B1):c.1340T>C (p.Leu447Pro)
|
rs1555972641
|
|
NM_000475.5(NR0B1):c.1364_1365del (p.Thr455fs)
|
rs1555972640
|
|
NM_000475.5(NR0B1):c.277del (p.Ala93fs)
|
rs1555973189
|
|
NM_000475.5(NR0B1):c.327C>A (p.Cys109Ter)
|
rs1555973172
|
|
NM_000475.5(NR0B1):c.708G>A (p.Trp236Ter)
|
rs1131691564
|
|
NM_000475.5(NR0B1):c.754del (p.Gln252fs)
|
rs1555973063
|
|
NM_000475.5(NR0B1):c.806T>A (p.Val269Asp)
|
rs1555973045
|
|
NM_000475.5(NR0B1):c.890T>C (p.Leu297Pro)
|
rs104894907
|
|
NM_000475.5(NR0B1):c.919G>T (p.Glu307Ter)
|
rs1324519932
|
|
NM_000475.5(NR0B1):c.952C>T (p.Gln318Ter)
|
rs1555972994
|
|
NM_000492.4(CFTR):c.1141A>T (p.Lys381Ter)
|
rs1554381605
|
|
NM_000492.4(CFTR):c.11C>A (p.Ser4Ter)
|
rs397508173
|
|
NM_000492.4(CFTR):c.1373del (p.Gly458fs)
|
rs397508196
|
|
NM_000492.4(CFTR):c.1882G>A (p.Gly628Arg)
|
rs397508316
|
|
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln)
|
rs1800076
|
|
NM_000492.4(CFTR):c.2600T>G (p.Leu867Ter)
|
rs397508404
|
|
NM_000501.4(ELN):c.328G>A (p.Ala110Thr)
|
rs137953195
|
|
NM_000516.7(GNAS):c.1006dup (p.Arg336fs)
|
rs1569031388
|
|
NM_000516.7(GNAS):c.565_568del (p.Asp189fs)
|
rs587776829
|
|
NM_000529.2(MC2R):c.410G>C (p.Arg137Pro)
|
rs1208417750
|
|
NM_000529.2(MC2R):c.459dup (p.Ile154fs)
|
rs1555619430
|
|
NM_000529.2(MC2R):c.465G>C (p.Trp155Cys)
|
rs1555619429
|
|
NM_000529.2(MC2R):c.560del (p.Val187fs)
|
rs1555619406
|
|
NM_000529.2(MC2R):c.573C>A (p.Cys191Ter)
|
rs762692123
|
|
NM_000529.2(MC2R):c.80C>G (p.Pro27Arg)
|
rs28926178
|
|
NM_000548.5(TSC2):c.1372C>T (p.Arg458Ter)
|
rs45517169
|
|
NM_000548.5(TSC2):c.4952A>G (p.Asn1651Ser)
|
rs45517382
|
|
NM_000548.5(TSC2):c.5024C>A (p.Pro1675Gln)
|
rs45483392
|
|
NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del)
|
rs137854218
|
|
NM_000548.5(TSC2):c.599+1G>A
|
rs45460895
|
|
NM_000548.5(TSC2):c.687C>G (p.Asn229Lys)
|
rs1555498802
|
|
NM_000552.5(VWF):c.3797C>A (p.Pro1266Gln)
|
rs61749370
|
|
NM_000552.5(VWF):c.3925A>G (p.Ile1309Val)
|
rs61749389
|
|
NM_000552.5(VWF):c.3946G>A (p.Val1316Met)
|
rs61749397
|
|
NM_000552.5(VWF):c.4082T>C (p.Leu1361Ser)
|
rs61749408
|
|
NM_000552.5(VWF):c.4120C>T (p.Arg1374Cys)
|
rs61750071
|
|
NM_000702.4(ATP1A2):c.3027T>A (p.Tyr1009Ter)
|
rs1570998206
|
|
NM_000744.7(CHRNA4):c.851C>T (p.Ser284Leu)
|
rs28931591
|
|
NM_000834.5(GRIN2B):c.2510T>C (p.Ile837Thr)
|
rs1565455844
|
|
NM_000834.5(GRIN2B):c.3005G>T (p.Gly1002Val)
|
rs773762599
|
|
NM_000891.3(KCNJ2):c.200G>A (p.Arg67Gln)
|
rs199473368
|
|
NM_000891.3(KCNJ2):c.244C>T (p.Arg82Trp)
|
rs199473373
|
|
NM_000891.3(KCNJ2):c.913A>G (p.Thr305Ala)
|
rs199473387
|
|
NM_001035.3(RYR2):c.14246G>T (p.Gly4749Val)
|
rs1558457775
|
|
NM_001035.3(RYR2):c.14383A>G (p.Lys4795Glu)
|
rs1558462911
|
|
NM_001042492.2(NF1):c.[6708delT;6710C>G]
|
|
|
NM_001042492.3(NF1):c.1062+3A>G
|
rs1057521098
|
|
NM_001042492.3(NF1):c.125_126dup (p.Leu43fs)
|
rs1555604897
|
|
NM_001042492.3(NF1):c.1393-2A>G
|
rs1555612266
|
|
NM_001042492.3(NF1):c.1400_1415del (p.Thr467fs)
|
rs1555612270
|
|
NM_001042492.3(NF1):c.2251+1G>A
|
rs1555613843
|
|
NM_001042492.3(NF1):c.2503C>T (p.Gln835Ter)
|
rs1555614207
|
|
NM_001042492.3(NF1):c.2511G>A (p.Trp837Ter)
|
rs1555614211
|
|
NM_001042492.3(NF1):c.2674del (p.Ser892fs)
|
rs1555614296
|
|
NM_001042492.3(NF1):c.282del (p.Ala95fs)
|
rs1555605404
|
|
NM_001042492.3(NF1):c.2850+1G>A
|
rs1131691122
|
|
NM_001042492.3(NF1):c.2953C>T (p.Gln985Ter)
|
rs1555614455
|
|
NM_001042492.3(NF1):c.3111dup (p.Arg1038Ter)
|
rs1131691127
|
|
NM_001042492.3(NF1):c.3610C>G (p.Arg1204Gly)
|
rs199474732
|
|
NM_001042492.3(NF1):c.3721C>T (p.Arg1241Ter)
|
rs137854562
|
|
NM_001042492.3(NF1):c.3739_3742del (p.Phe1247fs)
|
rs1064794276
|
|
NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter)
|
rs199474742
|
|
NM_001042492.3(NF1):c.3916C>T (p.Arg1306Ter)
|
rs376576925
|
|
NM_001042492.3(NF1):c.4110+1G>T
|
rs1555617383
|
|
NM_001042492.3(NF1):c.4231C>T (p.Leu1411Phe)
|
rs199474789
|
|
NM_001042492.3(NF1):c.4236A>T (p.Arg1412Ser)
|
rs137854554
|
|
NM_001042492.3(NF1):c.4332+1G>A
|
rs1555618572
|
|
NM_001042492.3(NF1):c.4332+1del
|
rs1567862095
|
|
NM_001042492.3(NF1):c.4465A>G (p.Ser1489Gly)
|
rs199474743
|
|
NM_001042492.3(NF1):c.4631C>A (p.Ala1544Glu)
|
rs1555619015
|
|
NM_001042492.3(NF1):c.4905T>G (p.Tyr1635Ter)
|
rs948982039
|
|
NM_001042492.3(NF1):c.499_502del (p.Cys167fs)
|
rs786201874
|
|
NM_001042492.3(NF1):c.5157del (p.Ile1719fs)
|
rs1555533382
|
|
NM_001042492.3(NF1):c.5295_5296del (p.Ala1767fs)
|
rs1555533552
|
|
NM_001042492.3(NF1):c.5317dup (p.Leu1773fs)
|
rs1555533561
|
|
NM_001042492.3(NF1):c.5404del (p.Thr1802fs)
|
rs1597832056
|
|
NM_001042492.3(NF1):c.541C>T (p.Gln181Ter)
|
rs753529924
|
|
NM_001042492.3(NF1):c.560del (p.Cys187fs)
|
rs1555607107
|
|
NM_001042492.3(NF1):c.5830del (p.Leu1944fs)
|
rs1555534378
|
|
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter)
|
rs137854552
|
|
NM_001042492.3(NF1):c.5907_5908del (p.Arg1970fs)
|
rs863224835
|
|
NM_001042492.3(NF1):c.6001G>A (p.Gly2001Arg)
|
rs199474751
|
|
NM_001042492.3(NF1):c.6623C>G (p.Ala2208Gly)
|
rs1555534886
|
|
NM_001042492.3(NF1):c.6794del (p.Lys2265fs)
|
rs1597845155
|
|
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter)
|
rs772295894
|
|
NM_001042492.3(NF1):c.6921+1G>A
|
rs1060500355
|
|
NM_001042492.3(NF1):c.7152dup (p.Asn2385Ter)
|
rs1555535434
|
|
NM_001042492.3(NF1):c.7278T>A (p.Cys2426Ter)
|
rs1567623508
|
|
NM_001042492.3(NF1):c.7330dup (p.Thr2444fs)
|
rs1064794278
|
|
NM_001042492.3(NF1):c.7811del (p.Leu2604fs)
|
rs1555536701
|
|
NM_001042492.3(NF1):c.7847_7850del (p.Gln2616fs)
|
rs1597866554
|
|
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter)
|
rs786201367
|
|
NM_001042492.3(NF1):c.7982T>A (p.Leu2661Ter)
|
rs1567627709
|
|
NM_001042492.3(NF1):c.8084del (p.Pro2695fs)
|
rs1555536928
|
|
NM_001042492.3(NF1):c.889-1G>C
|
rs587781517
|
|
NM_001042492.3(NF1):c.979_997del (p.Leu327fs)
|
rs1597680978
|
|
NM_001077415.3(CRELD1):c.1049-376T>G
|
rs73118372
|
|
NM_001103.4(ACTN2):c.2423C>T (p.Thr808Ile)
|
rs148833906
|
|
NM_001110556.2(FLNA):c.4528A>C (p.Asn1510His)
|
rs1557177310
|
|
NM_001110556.2(FLNA):c.6146G>A (p.Arg2049His)
|
rs1557176118
|
|
NM_001110556.2(FLNA):c.6199G>A (p.Glu2067Lys)
|
rs1557176102
|
|
NM_001110556.2(FLNA):c.6532G>C (p.Val2178Leu)
|
rs1569551461
|
|
NM_001110792.2(MECP2):c.1134C>T (p.His378=)
|
rs1557135898
|
|
NM_001110792.2(MECP2):c.1344_1345del (p.Gln449fs)
|
rs61753972
|
|
NM_001110792.2(MECP2):c.414-17del
|
rs61753982
|
|
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)
|
rs28934904
|
|
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg)
|
rs61748404
|
|
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)
|
rs28934906
|
|
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter)
|
rs61748421
|
|
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)
|
rs61749721
|
|
NM_001110792.2(MECP2):c.842del (p.Gly281fs)
|
rs61750241
|
|
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys)
|
rs28935468
|
|
NM_001126049.2(KLLN):c.-1007C>G
|
rs587780001
|
|
NM_001127222.2(CACNA1A):c.2582_2599del (p.Gln861_Asp866del)
|
rs767951499
|
|
NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys)
|
rs727503940
|
|
NM_001134407.3(GRIN2A):c.1382T>A (p.Ile461Asn)
|
rs1567337914
|
|
NM_001134407.3(GRIN2A):c.364G>T (p.Val122Phe)
|
rs376125239
|
|
NM_001165963.4(SCN1A):c.1889G>C (p.Arg630Pro)
|
rs145670933
|
|
NM_001165963.4(SCN1A):c.3623G>A (p.Arg1208Lys)
|
rs1559149025
|
|
NM_001165963.4(SCN1A):c.3851G>A (p.Trp1284Ter)
|
rs1559144583
|
|
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter)
|
rs121918624
|
|
NM_001165963.4(SCN1A):c.777C>A (p.Ser259Arg)
|
rs121918735
|
|
NM_001184880.2(PCDH19):c.489_490delinsAT (p.Gln164Ter)
|
rs1555985639
|
|
NM_001184880.2(PCDH19):c.490dup (p.Gln164fs)
|
rs1569315842
|
|
NM_001184880.2(PCDH19):c.593G>T (p.Arg198Leu)
|
rs772837341
|
|
NM_001184880.2(PCDH19):c.914A>G (p.Asp305Gly)
|
rs1569315243
|
|
NM_001232.4(CASQ2):c.2T>C (p.Met1Thr)
|
rs1553197939
|
|
NM_001242896.3(DEPDC5):c.2512C>T (p.Arg838Ter)
|
rs1569067939
|
|
NM_001242896.3(DEPDC5):c.4066del (p.Leu1356fs)
|
rs2093486364
|
|
NM_001276345.2(TNNT2):c.42-82C>T
|
rs1558248842
|
|
NM_001276345.2(TNNT2):c.547C>G (p.Arg183Gly)
|
rs727503512
|
|
NM_001323289.2(CDKL5):c.1921_1922del (p.Ser641fs)
|
rs1569219844
|
|
NM_001323289.2(CDKL5):c.378C>G (p.Cys126Trp)
|
rs1569213910
|
|
NM_001330260.2(SCN8A):c.297A>C (p.Arg99Ser)
|
rs1565885985
|
|
NM_001330260.2(SCN8A):c.4850G>A (p.Arg1617Gln)
|
rs587777721
|
|
NM_001330260.2(SCN8A):c.5558A>C (p.Lys1853Thr)
|
rs1410900258
|
|
NM_001353921.2(ARHGEF9):c.211-5C>T
|
rs1569481993
|
|
NM_001354712.2(THRB):c.1012C>T (p.Arg338Trp)
|
rs121918697
|
|
NM_001354712.2(THRB):c.1031G>A (p.Gly344Glu)
|
rs1553610974
|
|
NM_001354712.2(THRB):c.1033G>C (p.Gly345Arg)
|
rs121918686
|
|
NM_001354712.2(THRB):c.1033G>T (p.Gly345Cys)
|
rs121918686
|
|
NM_001354712.2(THRB):c.1040G>A (p.Gly347Glu)
|
rs28999971
|
|
NM_001354712.2(THRB):c.1293A>G (p.Ile431Met)
|
rs1553609195
|
|
NM_001354712.2(THRB):c.1302C>A (p.Cys434Ter)
|
rs121918705
|
|
NM_001354712.2(THRB):c.1305T>G (p.His435Gln)
|
rs1553609185
|
|
NM_001354712.2(THRB):c.1312del (p.Arg438fs)
|
rs1553609179
|
|
NM_001354712.2(THRB):c.1348C>T (p.Leu450Phe)
|
rs1553609152
|
|
NM_001354712.2(THRB):c.1357C>A (p.Pro453Thr)
|
rs28933408
|
|
NM_001354712.2(THRB):c.1357C>T (p.Pro453Ser)
|
rs28933408
|
|
NM_001354712.2(THRB):c.1358dup (p.Leu454fs)
|
rs1553609119
|
|
NM_001354712.2(THRB):c.1373T>C (p.Val458Ala)
|
rs121918704
|
|
NM_001354712.2(THRB):c.1378G>A (p.Glu460Lys)
|
rs1553609090
|
|
NM_001354712.2(THRB):c.679_696dup (p.Glu227_Thr232dup)
|
rs1553616532
|
|
NM_001354712.2(THRB):c.700G>C (p.Ala234Pro)
|
rs121918694
|
|
NM_001354712.2(THRB):c.727C>G (p.Arg243Gly)
|
rs121918707
|
|
NM_001354712.2(THRB):c.728G>A (p.Arg243Gln)
|
rs121918706
|
|
NM_001354712.2(THRB):c.737T>C (p.Leu246Pro)
|
rs1553616482
|
|
NM_001354712.2(THRB):c.803C>G (p.Ala268Gly)
|
rs750905761
|
|
NM_001354712.2(THRB):c.920G>A (p.Gly307Asp)
|
rs1553611101
|
|
NM_001354712.2(THRB):c.928A>G (p.Met310Val)
|
rs1553611094
|
|
NM_001354712.2(THRB):c.938T>C (p.Met313Thr)
|
rs1553611083
|
|
NM_001354712.2(THRB):c.941C>T (p.Ser314Phe)
|
rs1553611075
|
|
NM_001354712.2(THRB):c.949G>A (p.Ala317Thr)
|
rs121918690
|
|
NM_001354712.2(THRB):c.958C>T (p.Arg320Cys)
|
rs121918696
|
|
NM_001354712.2(THRB):c.959G>A (p.Arg320His)
|
rs121918693
|
|
NM_001354712.2(THRB):c.980C>A (p.Thr327Asn)
|
rs1553611038
|
|
NM_001379110.1(SLC9A6):c.420_421del (p.Phe141fs)
|
rs1603198063
|
|
NM_001386393.1(PANK2):c.-5C>T
|
rs746763863
|
|
NM_001482.3(GATM):c.367G>A (p.Ala123Thr)
|
rs1566840902
|
|
NM_001999.4(FBN2):c.2392G>A (p.Gly798Ser)
|
rs1554063781
|
|
NM_002471.4(MYH6):c.1551C>A (p.Asp517Glu)
|
rs757410478
|
|
NM_002474.3(MYH11):c.3728T>C (p.Leu1243Pro)
|
rs1555554139
|
|
NM_002834.5(PTPN11):c.1472C>T (p.Pro491Leu)
|
rs397507540
|
|
NM_002834.5(PTPN11):c.172A>C (p.Asn58His)
|
rs397507505
|
|
NM_002834.5(PTPN11):c.209A>G (p.Lys70Arg)
|
rs397516801
|
|
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly)
|
rs121918454
|
|
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg)
|
rs121918466
|
|
NM_002834.5(PTPN11):c.317A>C (p.Asp106Ala)
|
rs397507517
|
|
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser)
|
rs121918455
|
|
NM_003060.4(SLC22A5):c.592G>T (p.Val198Leu)
|
rs757979350
|
|
NM_003140.3(SRY):c.266A>C (p.Glu89Ala)
|
rs1556370554
|
|
NM_003140.3(SRY):c.89G>T (p.Arg30Ile)
|
rs1556370576
|
|
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met)
|
rs35766612
|
|
NM_003630.3(PEX3):c.412G>A (p.Gly138Arg)
|
rs1562654527
|
|
NM_003630.3(PEX3):c.942-8T>G
|
rs267608193
|
|
NM_003865.3(HESX1):c.200G>A (p.Ser67Asn)
|
rs141863326
|
|
NM_004004.6(GJB2):c.-23G>T
|
rs786204734
|
|
NM_004004.6(GJB2):c.148G>A (p.Asp50Asn)
|
rs28931594
|
|
NM_004004.6(GJB2):c.196G>C (p.Asp66His)
|
rs104894403
|
|
NM_004004.6(GJB2):c.223C>G (p.Arg75Gly)
|
rs104894402
|
|
NM_004004.6(GJB2):c.226C>G (p.Leu76Val)
|
rs1566528748
|
|
NM_004004.6(GJB2):c.235del (p.Leu79fs)
|
rs80338943
|
|
NM_004004.6(GJB2):c.313_326del (p.Lys105fs)
|
rs111033253
|
|
NM_004004.6(GJB2):c.334_335del (p.Lys112fs)
|
rs756484720
|
|
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del)
|
rs80338947
|
|
NM_004004.6(GJB2):c.35del (p.Gly12fs)
|
rs80338939
|
|
NM_004004.6(GJB2):c.35dup (p.Val13fs)
|
rs80338939
|
|
NM_004004.6(GJB2):c.474C>G (p.Tyr158Ter)
|
rs375759781
|
|
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln)
|
rs80338950
|
|
NM_004004.6(GJB2):c.560A>G (p.Glu187Gly)
|
rs1451982228
|
|
NM_004004.6(GJB2):c.56G>C (p.Ser19Thr)
|
rs80338941
|
|
NM_004004.6(GJB2):c.592_600delinsCAGTGTTCATGACATTC (p.Val198_Gly200delinsGlnCysSerTer)
|
rs111033335
|
|
NM_004004.6(GJB2):c.59T>C (p.Ile20Thr)
|
rs1057517519
|
|
NM_004004.6(GJB2):c.646A>C (p.Arg216=)
|
rs1446334784
|
|
NM_004004.6(GJB2):c.95G>T (p.Arg32Leu)
|
rs111033190
|
|
NM_004006.2(DMD):c.10453dup (p.Leu3485Profs)
|
rs886043375
|
|
NM_004006.3(DMD):c.10098AGA[1] (p.Glu3367del)
|
rs886042840
|
|
NM_004006.3(DMD):c.10108C>T (p.Arg3370Ter)
|
rs104894787
|
|
NM_004006.3(DMD):c.2669T>A (p.Leu890Ter)
|
rs1557380616
|
|
NM_004006.3(DMD):c.31+1G>T
|
rs398123923
|
|
NM_004006.3(DMD):c.3295C>T (p.Gln1099Ter)
|
rs398123935
|
|
NM_004006.3(DMD):c.5324_5325delinsGT (p.Lys1775Ser)
|
rs1557303381
|
|
NM_004006.3(DMD):c.630del (p.Lys211fs)
|
rs1557047827
|
|
NM_004006.3(DMD):c.6502G>T (p.Glu2168Ter)
|
rs779739455
|
|
NM_004006.3(DMD):c.7310-1G>A
|
rs1556880354
|
|
NM_004006.3(DMD):c.9854_9863del (p.Met3285fs)
|
rs398124105
|
|
NM_004281.4(BAG3):c.252_258dup (p.Pro87fs)
|
rs1564773559
|
|
NM_004287.5(GOSR2):c.94+2T>G
|
rs1568166989
|
|
NM_004333.6(BRAF):c.1205C>G (p.Pro402Arg)
|
rs199927105
|
|
NM_004333.6(BRAF):c.736G>C (p.Ala246Pro)
|
rs180177034
|
|
NM_004415.4(DSP):c.208A>G (p.Thr70Ala)
|
rs1442496444
|
|
NM_004519.4(KCNQ3):c.2467G>A (p.Gly823Arg)
|
rs1563761293
|
|
NM_004612.4(TGFBR1):c.1058G>T (p.Gly353Val)
|
rs1554701911
|
|
NM_004612.4(TGFBR1):c.757A>G (p.Met253Val)
|
rs886038919
|
|
NM_005149.3(TBX19):c.158_159del (p.Arg53fs)
|
rs763818059
|
|
NM_005149.3(TBX19):c.210G>T (p.Met70Ile)
|
rs1558190316
|
|
NM_005149.3(TBX19):c.265del (p.Leu89fs)
|
rs1558190339
|
|
NM_005149.3(TBX19):c.477G>C (p.Leu159Phe)
|
rs1558190989
|
|
NM_005149.3(TBX19):c.562G>A (p.Glu188Lys)
|
rs1159356681
|
|
NM_005149.3(TBX19):c.665+1del
|
rs1558192351
|
|
NM_005149.3(TBX19):c.782del (p.Asn261fs)
|
rs730880274
|
|
NM_005159.5(ACTC1):c.101C>T (p.Pro34Leu)
|
rs1373760624
|
|
NM_005159.5(ACTC1):c.922T>A (p.Tyr308Asn)
|
rs1566967093
|
|
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser)
|
rs104894229
|
|
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys)
|
rs104894228
|
|
NM_005912.3(MC4R):c.63_64del (p.Tyr21_Arg22delinsTer)
|
rs770293321
|
|
NM_005912.3(MC4R):c.812G>A (p.Cys271Tyr)
|
rs121913562
|
|
NM_005912.3(MC4R):c.914G>A (p.Arg305Gln)
|
rs775382722
|
|
NM_006279.5(ST3GAL3):c.401A>G (p.Asn134Ser)
|
rs745451424
|
|
NM_006912.6(RIT1):c.233G>A (p.Gly78Glu)
|
rs1557960268
|
|
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala)
|
rs672601335
|
|
NM_006996.3(SLC19A2):c.1082G>A (p.Trp361Ter)
|
rs1553211899
|
|
NM_006996.3(SLC19A2):c.428C>T (p.Ser143Phe)
|
rs761957186
|
|
NM_006996.3(SLC19A2):c.584_585del (p.Leu195fs)
|
rs763099442
|
|
NM_006996.3(SLC19A2):c.64_70del (p.Thr22fs)
|
rs1557894839
|
|
NM_014000.3(VCL):c.2862_2864del (p.Leu955del)
|
rs397517237
|
|
NM_014795.4(ZEB2):c.3267A>C (p.Glu1089Asp)
|
rs1553960775
|
|
NM_016203.4(PRKAG2):c.1378C>G (p.Leu460Val)
|
rs878855018
|
|
NM_016203.4(PRKAG2):c.868A>G (p.Lys290Glu)
|
rs869025499
|
|
NM_017780.4(CHD7):c.2215G>T (p.Glu739Ter)
|
rs886040981
|
|
NM_017780.4(CHD7):c.3412C>T (p.Gln1138Ter)
|
rs1554599035
|
|
NM_020433.5(JPH2):c.1888A>C (p.Lys630Gln)
|
rs1569180680
|
|
NM_020975.6(RET):c.1852T>G (p.Cys618Gly)
|
rs76262710
|
|
NM_020975.6(RET):c.1859G>A (p.Cys620Tyr)
|
rs77503355
|
|
NM_020975.6(RET):c.2753T>C (p.Met918Thr)
|
rs74799832
|
|
NM_020975.6(RET):c.860G>A (p.Arg287Gln)
|
rs1564491460
|
|
NM_020975.6(RET):c.95C>T (p.Ser32Leu)
|
rs76764689
|
|
NM_024334.3(TMEM43):c.-6C>T
|
rs1281893880
|
|
NM_030777.4(SLC2A10):c.1334del (p.Gly445fs)
|
rs587776600
|
|
NM_030777.4(SLC2A10):c.164T>C (p.Leu55Pro)
|
rs1555887820
|
|
NM_030777.4(SLC2A10):c.197G>A (p.Gly66Asp)
|
rs1555887829
|
|
NM_033343.4(LHX4):c.359G>A (p.Cys120Tyr)
|
rs1553282666
|
|
NM_053025.4(MYLK):c.3637G>A (p.Val1213Met)
|
rs368390254
|
|
NM_130839.5(UBE3A):c.119G>T (p.Gly40Val)
|
rs864309506
|
|
NM_130839.5(UBE3A):c.1423A>G (p.Met475Val)
|
rs864309507
|
|
NM_130839.5(UBE3A):c.1871_1872del (p.Cys624fs)
|
rs864309508
|
|
NM_130839.5(UBE3A):c.2567_2570del (p.Lys856fs)
|
|
|
NM_130839.5(UBE3A):c.489C>G (p.Ser163Arg)
|
rs1566962361
|
|
NM_144573.4(NEXN):c.1108A>G (p.Thr370Ala)
|
rs1557988169
|
|
NM_145239.3(PRRT2):c.173C>G (p.Pro58Arg)
|
rs1567378768
|
|
NM_152594.3(SPRED1):c.-294CT[2]
|
rs1048605006
|
|
NM_152594.3(SPRED1):c.299G>A (p.Gly100Asp)
|
rs1555391048
|
|
NM_152594.3(SPRED1):c.449C>T (p.Ser150Phe)
|
rs1555392025
|
|
NM_170707.4(LMNA):c.3G>C (p.Met1Ile)
|
rs794728598
|
|
NM_172107.4(KCNQ2):c.1658G>C (p.Arg553Pro)
|
rs118192234
|
|
NM_172107.4(KCNQ2):c.629G>A (p.Arg210His)
|
rs886041262
|
|
NM_172107.4(KCNQ2):c.775G>A (p.Asp259Asn)
|
rs777257591
|
|
NM_198904.4(GABRG2):c.892A>G (p.Lys298Glu)
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rs1561658609
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