NM_000500.9(CYP21A2):c.*13G>A
|
rs6447
|
0.01770
|
UGT1A1*6
|
rs4148323
|
0.00891
|
NM_000500.9(CYP21A2):c.*12C>T
|
rs150697472
|
0.00853
|
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met)
|
rs121908147
|
0.00835
|
NM_000304.4(PMP22):c.353C>T (p.Thr118Met)
|
rs104894619
|
0.00378
|
NM_000069.3(CACNA1S):c.4060A>T (p.Thr1354Ser)
|
rs145910245
|
0.00349
|
NM_004393.6(DAG1):c.258G>C (p.Leu86Phe)
|
rs145403829
|
0.00314
|
NM_000218.3(KCNQ1):c.-5T>C
|
rs532941548
|
0.00267
|
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro)
|
rs200302125
|
0.00257
|
NM_033305.3(VPS13A):c.775A>G (p.Asn259Asp)
|
rs41307461
|
0.00255
|
NM_015474.4(SAMHD1):c.77C>T (p.Pro26Leu)
|
rs147240777
|
0.00252
|
NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu)
|
rs137852776
|
0.00242
|
NM_001293298.2(CEMIP):c.3397G>A (p.Glu1133Lys)
|
rs151273972
|
0.00239
|
NM_020361.5(CPA6):c.799G>A (p.Gly267Arg)
|
rs61738009
|
0.00239
|
NM_213599.3(ANO5):c.155A>G (p.Asn52Ser)
|
rs143777403
|
0.00238
|
NM_144773.4(PROKR2):c.518T>G (p.Leu173Arg)
|
rs74315416
|
0.00220
|
NM_004646.4(NPHS1):c.128T>C (p.Val43Ala)
|
rs140626538
|
0.00205
|
NM_000170.3(GLDC):c.2683A>G (p.Met895Val)
|
rs141152043
|
0.00200
|
NM_001365999.1(SZT2):c.4898C>T (p.Ser1633Leu)
|
rs138762270
|
0.00197
|
NM_032119.4(ADGRV1):c.3151G>T (p.Asp1051Tyr)
|
rs145556097
|
0.00195
|
NM_033629.6(TREX1):c.797A>G (p.Glu266Gly)
|
rs55999987
|
0.00184
|
NM_004646.4(NPHS1):c.3562G>A (p.Ala1188Thr)
|
rs116700257
|
0.00177
|
NM_032119.4(ADGRV1):c.1522A>C (p.Ile508Leu)
|
rs61744480
|
0.00177
|
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His)
|
rs143987857
|
0.00171
|
NM_001038603.3(MARVELD2):c.898T>A (p.Leu300Met)
|
rs72773422
|
0.00170
|
NM_021098.3(CACNA1H):c.2626G>A (p.Ala876Thr)
|
rs58173258
|
0.00169
|
NM_000540.3(RYR1):c.12884C>T (p.Ala4295Val)
|
rs193922855
|
0.00163
|
NM_032119.4(ADGRV1):c.3443G>A (p.Gly1148Asp)
|
rs200945405
|
0.00159
|
NM_001164508.2(NEB):c.9181A>T (p.Met3061Leu)
|
rs143473183
|
0.00158
|
NM_152743.4(BRAT1):c.1828C>T (p.Arg610Trp)
|
rs61753094
|
0.00152
|
NM_024301.5(FKRP):c.1177G>A (p.Val393Ile)
|
rs140679502
|
0.00150
|
NM_025243.4(SLC19A3):c.621A>G (p.Ile207Met)
|
rs145804755
|
0.00150
|
NM_005422.4(TECTA):c.3097C>T (p.Arg1033Trp)
|
rs142486386
|
0.00149
|
NM_002241.5(KCNJ10):c.136G>A (p.Asp46Asn)
|
rs141553756
|
0.00146
|
NM_001164508.2(NEB):c.3623T>C (p.Ile1208Thr)
|
rs201141958
|
0.00137
|
NM_003119.4(SPG7):c.4G>A (p.Ala2Thr)
|
rs535030441
|
0.00136
|
NM_001130987.2(DYSF):c.205G>C (p.Val69Leu)
|
rs114986640
|
0.00134
|
NM_016341.4(PLCE1):c.1495C>T (p.Arg499Cys)
|
rs61751493
|
0.00134
|
NM_000083.3(CLCN1):c.1480T>C (p.Phe494Leu)
|
rs147493705
|
0.00132
|
NM_032119.4(ADGRV1):c.11974G>A (p.Asp3992Asn)
|
rs201386977
|
0.00131
|
NM_000352.6(ABCC8):c.4563G>T (p.Lys1521Asn)
|
rs142272833
|
0.00130
|
NM_000170.3(GLDC):c.1618A>C (p.Lys540Gln)
|
rs140516872
|
0.00127
|
NM_001079802.2(FKTN):c.166-4A>G
|
rs193922689
|
0.00125
|
NM_006420.3(ARFGEF2):c.3892G>A (p.Gly1298Ser)
|
rs139037316
|
0.00124
|
NM_024301.5(FKRP):c.740C>A (p.Pro247Gln)
|
rs528000488
|
0.00124
|
NM_000500.9(CYP21A2):c.227G>A (p.Arg76Lys)
|
rs368330593
|
0.00122
|
NM_020361.5(CPA6):c.619C>G (p.Gln207Glu)
|
rs35993949
|
0.00121
|
NM_032119.4(ADGRV1):c.207+3A>G
|
rs142356935
|
0.00119
|
NM_133642.5(LARGE1):c.1420G>A (p.Val474Ile)
|
rs150861748
|
0.00119
|
NM_014053.4(FLVCR1):c.1624C>T (p.Pro542Ser)
|
rs141575859
|
0.00117
|
NM_020686.6(ABAT):c.1186A>G (p.Ile396Val)
|
rs150914629
|
0.00116
|
NM_201384.3(PLEC):c.7753G>C (p.Glu2585Gln)
|
rs200488179
|
0.00116
|
NM_001130987.2(DYSF):c.4253C>G (p.Pro1418Arg)
|
rs138268837
|
0.00115
|
NM_007254.4(PNKP):c.1029+2T>C
|
rs199919568
|
0.00115
|
NM_018136.5(ASPM):c.5947A>T (p.Met1983Leu)
|
rs141715950
|
0.00115
|
NM_024649.5(BBS1):c.235G>A (p.Glu79Lys)
|
rs138744839
|
0.00115
|
NM_145207.3(AFG2A):c.766A>G (p.Ile256Val)
|
rs143384152
|
0.00115
|
NM_001130987.2(DYSF):c.1931T>C (p.Met644Thr)
|
rs141867897
|
0.00113
|
NM_001130987.2(DYSF):c.2956A>T (p.Met986Leu)
|
rs144636654
|
0.00112
|
NM_001048166.1(STIL):c.2362G>A (p.Val788Ile)
|
rs149697952
|
0.00111
|
NM_152564.5(VPS13B):c.1248G>T (p.Gln416His)
|
rs143024324
|
0.00111
|
NM_000091.5(COL4A3):c.1483C>T (p.His495Tyr)
|
rs200510532
|
0.00110
|
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser)
|
rs34988750
|
0.00107
|
NM_001304438.2(TMEM132E):c.2125C>G (p.Leu709Val)
|
rs141863942
|
0.00105
|
NM_006493.4(CLN5):c.-146T>C
|
rs201615354
|
0.00104
|
NM_000426.4(LAMA2):c.1814C>T (p.Thr605Ile)
|
rs112388307
|
0.00103
|
NM_001191061.2(SLC25A22):c.585C>T (p.Leu195=)
|
rs147840220
|
0.00103
|
NM_000352.6(ABCC8):c.3203C>T (p.Thr1068Met)
|
rs139524121
|
0.00102
|
NM_014141.6(CNTNAP2):c.73G>A (p.Ala25Thr)
|
rs200866893
|
0.00101
|
NM_016341.4(PLCE1):c.5782G>A (p.Val1928Ile)
|
rs202171627
|
0.00101
|
NM_004999.4(MYO6):c.3530G>A (p.Arg1177His)
|
rs139664153
|
0.00099
|
NM_000426.4(LAMA2):c.6161A>G (p.Gln2054Arg)
|
rs56035053
|
0.00098
|
NM_201384.3(PLEC):c.1969A>T (p.Ser657Cys)
|
rs199843296
|
0.00097
|
NM_194248.3(OTOF):c.3966C>G (p.Asp1322Glu)
|
rs80356576
|
0.00096
|
NM_001130987.2(DYSF):c.4021C>G (p.Gln1341Glu)
|
rs147950418
|
0.00094
|
NM_001927.4(DES):c.935A>C (p.Asp312Ala)
|
rs148947510
|
0.00093
|
NM_018136.5(ASPM):c.7670C>G (p.Ser2557Cys)
|
rs78215018
|
0.00093
|
NM_194248.3(OTOF):c.1630C>T (p.Arg544Cys)
|
rs139954767
|
0.00093
|
NM_201384.3(PLEC):c.9926G>A (p.Arg3309His)
|
rs201369301
|
0.00093
|
NM_002693.3(POLG):c.2207A>G (p.Asn736Ser)
|
rs138457939
|
0.00092
|
NM_003560.4(PLA2G6):c.1615G>A (p.Gly539Ser)
|
rs143826762
|
0.00092
|
NM_003673.4(TCAP):c.353C>T (p.Ala118Val)
|
rs143233087
|
0.00092
|
NM_000083.3(CLCN1):c.2834G>T (p.Gly945Val)
|
rs139659129
|
0.00091
|
NM_000026.4(ADSL):c.895A>G (p.Met299Val)
|
rs34396910
|
0.00090
|
NM_021008.4(DEAF1):c.1186G>A (p.Gly396Ser)
|
rs138447102
|
0.00090
|
NM_213599.3(ANO5):c.2141C>G (p.Thr714Ser)
|
rs200631556
|
0.00090
|
NM_000336.3(SCNN1B):c.1888G>A (p.Val630Ile)
|
rs72654357
|
0.00089
|
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys)
|
rs201680145
|
0.00089
|
NM_016239.4(MYO15A):c.9181G>A (p.Glu3061Lys)
|
rs116833707
|
0.00089
|
NM_032119.4(ADGRV1):c.8572A>G (p.Ile2858Val)
|
rs41308297
|
0.00088
|
NM_152743.4(BRAT1):c.1792C>T (p.His598Tyr)
|
rs201523118
|
0.00088
|
NM_001130987.2(DYSF):c.2147C>T (p.Ala716Val)
|
rs145007061
|
0.00087
|
NM_000426.4(LAMA2):c.922G>A (p.Glu308Lys)
|
rs146462599
|
0.00086
|
NM_005529.7(HSPG2):c.8381G>A (p.Arg2794Gln)
|
rs141563188
|
0.00086
|
NM_020549.5(CHAT):c.665G>C (p.Arg222Pro)
|
rs8178989
|
0.00086
|
NM_024301.5(FKRP):c.1154C>T (p.Ser385Leu)
|
rs104894680
|
0.00086
|
NM_024596.5(MCPH1):c.2180C>T (p.Pro727Leu)
|
rs199861426
|
0.00086
|
NM_032119.4(ADGRV1):c.3509A>G (p.Tyr1170Cys)
|
rs188772875
|
0.00086
|
NM_018075.5(ANO10):c.88G>C (p.Glu30Gln)
|
rs147605535
|
0.00085
|
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser)
|
rs111033243
|
0.00083
|
NM_001851.6(COL9A1):c.902C>T (p.Pro301Leu)
|
rs192047082
|
0.00083
|
NM_001927.4(DES):c.785A>T (p.Glu262Val)
|
rs147327878
|
0.00083
|
NM_006623.4(PHGDH):c.682G>T (p.Gly228Trp)
|
rs139063843
|
0.00083
|
NM_013382.7(POMT2):c.1045C>T (p.Arg349Trp)
|
rs141339355
|
0.00083
|
NM_032119.4(ADGRV1):c.17758C>A (p.Leu5920Ile)
|
rs202110635
|
0.00083
|
NM_001267550.2(TTN):c.89426G>A (p.Arg29809Gln)
|
rs72648238
|
0.00082
|
NM_001365536.1(SCN9A):c.684C>G (p.Ile228Met)
|
rs71428908
|
0.00081
|
NM_004320.6(ATP2A1):c.1370C>T (p.Thr457Met)
|
rs138880727
|
0.00081
|
NM_194248.3(OTOF):c.2908C>T (p.Arg970Cys)
|
rs140613217
|
0.00081
|
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly)
|
rs41302239
|
0.00081
|
NM_005529.7(HSPG2):c.2725G>A (p.Gly909Ser)
|
rs137904249
|
0.00079
|
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met)
|
rs117148013
|
0.00078
|
NM_152743.4(BRAT1):c.1507C>T (p.Pro503Ser)
|
rs147745609
|
0.00078
|
NM_002335.4(LRP5):c.1413-7T>A
|
rs141889567
|
0.00077
|
NM_152564.5(VPS13B):c.9094G>T (p.Asp3032Tyr)
|
rs140095832
|
0.00077
|
NM_001293298.2(CEMIP):c.2609G>A (p.Gly870Asp)
|
rs113116775
|
0.00076
|
NM_016341.4(PLCE1):c.2786G>C (p.Ser929Thr)
|
rs61732521
|
0.00076
|
NM_005529.7(HSPG2):c.4568G>A (p.Arg1523His)
|
rs147633715
|
0.00075
|
NM_153026.3(PRICKLE1):c.2071A>G (p.Thr691Ala)
|
rs149496604
|
0.00075
|
NM_000441.2(SLC26A4):c.1616T>C (p.Ile539Thr)
|
rs146269871
|
0.00074
|
NM_000260.4(MYO7A):c.2886G>C (p.Gln962His)
|
rs200641606
|
0.00073
|
NM_014855.3(AP5Z1):c.2131C>G (p.Arg711Gly)
|
rs113184057
|
0.00073
|
NM_025243.4(SLC19A3):c.1145G>A (p.Ser382Asn)
|
rs145288025
|
0.00073
|
NM_033629.6(TREX1):c.720G>C (p.Arg240Ser)
|
rs72556555
|
0.00073
|
NM_138691.3(TMC1):c.924C>G (p.Asp308Glu)
|
rs113342704
|
0.00073
|
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg)
|
rs67254669
|
0.00072
|
NM_001130987.2(DYSF):c.4859G>A (p.Arg1620His)
|
rs185596534
|
0.00072
|
NM_014855.3(AP5Z1):c.1528C>T (p.Arg510Trp)
|
rs374146548
|
0.00072
|
NM_001164508.2(NEB):c.3184A>G (p.Lys1062Glu)
|
rs192117840
|
0.00071
|
NM_001164508.2(NEB):c.3989A>G (p.Tyr1330Cys)
|
rs189553632
|
0.00071
|
NM_002693.3(POLG):c.578G>A (p.Arg193Gln)
|
rs3176162
|
0.00071
|
NM_018451.5(CENPJ):c.3922G>A (p.Val1308Ile)
|
rs140564566
|
0.00071
|
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser)
|
rs142248228
|
0.00070
|
NM_152564.5(VPS13B):c.3811A>T (p.Thr1271Ser)
|
rs142674934
|
0.00069
|
NM_001101426.4(CRPPA):c.1218T>G (p.Ile406Met)
|
rs202011820
|
0.00068
|
NM_001191061.2(SLC25A22):c.140C>T (p.Thr47Met)
|
rs142220309
|
0.00068
|
NM_001365536.1(SCN9A):c.1109C>T (p.Thr370Met)
|
rs200391162
|
0.00068
|
NM_001365999.1(SZT2):c.6977G>A (p.Arg2326Gln)
|
rs146140125
|
0.00068
|
NM_001378030.1(CCDC78):c.23G>A (p.Gly8Asp)
|
rs181469519
|
0.00068
|
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr)
|
rs140601319
|
0.00068
|
NM_152564.5(VPS13B):c.7712C>T (p.Ser2571Phe)
|
rs145208175
|
0.00068
|
NM_182961.4(SYNE1):c.15907C>T (p.Arg5303Trp)
|
rs149215868
|
0.00067
|
NM_000426.4(LAMA2):c.3532G>A (p.Ala1178Thr)
|
rs34505698
|
0.00066
|
NM_001164508.2(NEB):c.8978A>G (p.Lys2993Arg)
|
rs138217855
|
0.00066
|
NM_032119.4(ADGRV1):c.15177G>T (p.Gln5059His)
|
rs201416399
|
0.00066
|
NM_030962.4(SBF2):c.5014_5016del (p.Lys1672del)
|
rs750958357
|
0.00065
|
NM_213599.3(ANO5):c.294G>A (p.Ala98=)
|
rs142858990
|
0.00065
|
NM_006922.4(SCN3A):c.44G>A (p.Arg15His)
|
rs139769668
|
0.00064
|
NM_000256.3(MYBPC3):c.3682C>T (p.Arg1228Cys)
|
rs201312636
|
0.00063
|
NM_001244008.2(KIF1A):c.3494T>C (p.Ile1165Thr)
|
rs35698242
|
0.00063
|
NM_001267550.2(TTN):c.84263G>A (p.Ser28088Asn)
|
rs200450022
|
0.00063
|
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp)
|
rs145843073
|
0.00063
|
NM_001267550.2(TTN):c.92294G>C (p.Arg30765Thr)
|
rs373099440
|
0.00062
|
NM_002693.3(POLG):c.3131T>C (p.Val1044Ala)
|
rs150233690
|
0.00062
|
NM_153026.3(PRICKLE1):c.2216C>T (p.Ser739Phe)
|
rs138452760
|
0.00062
|
NM_181882.3(PRX):c.499C>T (p.Arg167Cys)
|
rs10425452
|
0.00062
|
NM_000540.3(RYR1):c.11321C>T (p.Ala3774Val)
|
rs146361173
|
0.00061
|
NM_001292063.2(OTOG):c.4641G>T (p.Glu1547Asp)
|
rs764159927
|
0.00061
|
NM_003119.4(SPG7):c.2275G>A (p.Ala759Thr)
|
rs140769107
|
0.00061
|
NM_032119.4(ADGRV1):c.12181G>T (p.Val4061Phe)
|
rs200816323
|
0.00061
|
NM_206933.4(USH2A):c.12823T>A (p.Ser4275Thr)
|
rs138607917
|
0.00061
|
NM_012301.4(MAGI2):c.3706+5G>A
|
rs188293910
|
0.00060
|
NM_001267550.2(TTN):c.68824G>A (p.Glu22942Lys)
|
rs199506676
|
0.00059
|
NM_001927.4(DES):c.934G>A (p.Asp312Asn)
|
rs34337334
|
0.00059
|
NM_004646.4(NPHS1):c.1747G>A (p.Glu583Lys)
|
rs147641617
|
0.00059
|
NM_030962.4(SBF2):c.1424A>G (p.Gln475Arg)
|
rs199894823
|
0.00059
|
NM_030962.4(SBF2):c.3824G>A (p.Arg1275His)
|
rs150028248
|
0.00059
|
NM_006950.3(SYN1):c.1615G>A (p.Gly539Ser)
|
rs794727076
|
0.00058
|
NM_145207.3(AFG2A):c.1964G>A (p.Arg655Gln)
|
rs147873489
|
0.00058
|
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr)
|
rs145136257
|
0.00057
|
NM_004568.6(SERPINB6):c.121G>A (p.Val41Ile)
|
rs140220538
|
0.00057
|
NM_021942.6(TRAPPC11):c.931C>G (p.Leu311Val)
|
rs148833310
|
0.00057
|
NM_133642.5(LARGE1):c.211G>A (p.Glu71Lys)
|
rs116164106
|
0.00057
|
NM_000023.4(SGCA):c.421C>A (p.Arg141Ser)
|
rs35130237
|
0.00056
|
NM_001379180.1(ESRRB):c.*1535G>A
|
rs200237229
|
0.00056
|
NM_002693.3(POLG):c.678G>C (p.Gln226His)
|
rs147282197
|
0.00056
|
NM_005045.4(RELN):c.3147-4A>G
|
rs375230548
|
0.00056
|
NM_018075.5(ANO10):c.566G>A (p.Arg189Gln)
|
rs148873732
|
0.00056
|
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met)
|
rs143319805
|
0.00056
|
NM_000702.4(ATP1A2):c.1474G>A (p.Glu492Lys)
|
rs142348542
|
0.00055
|
NM_000083.3(CLCN1):c.2234A>G (p.Asn745Ser)
|
rs144612641
|
0.00054
|
NM_020451.3(SELENON):c.415G>A (p.Ala139Thr)
|
rs201692549
|
0.00054
|
NM_030962.4(SBF2):c.3290C>A (p.Thr1097Asn)
|
rs141894081
|
0.00054
|
NM_201384.3(PLEC):c.7669C>T (p.Arg2557Trp)
|
rs201569045
|
0.00054
|
NM_203290.4(POLR1C):c.421C>T (p.Arg141Cys)
|
rs148385032
|
0.00054
|
NM_004287.5(GOSR2):c.*1795G>C
|
rs147434599
|
0.00053
|
NM_005529.7(HSPG2):c.11938G>A (p.Val3980Met)
|
rs147860819
|
0.00053
|
NM_012210.4(TRIM32):c.*1G>A
|
rs142781513
|
0.00053
|
NM_032119.4(ADGRV1):c.16312A>G (p.Thr5438Ala)
|
rs201890097
|
0.00053
|
NM_144991.3(TSPEAR):c.668C>T (p.Ser223Leu)
|
rs149481227
|
0.00053
|
NM_152564.5(VPS13B):c.983A>G (p.His328Arg)
|
rs181625846
|
0.00053
|
NM_182914.3(SYNE2):c.4912T>C (p.Tyr1638His)
|
rs146801942
|
0.00052
|
NM_000391.4(TPP1):c.1241A>T (p.Asn414Ile)
|
rs146798796
|
0.00051
|
NM_001079802.2(FKTN):c.1159G>A (p.Gly387Arg)
|
rs148975262
|
0.00051
|
NM_003673.4(TCAP):c.313G>C (p.Glu105Gln)
|
rs146906267
|
0.00051
|
NM_004646.4(NPHS1):c.1619C>A (p.Ala540Glu)
|
rs149598144
|
0.00051
|
NM_005529.7(HSPG2):c.9476G>A (p.Arg3159Gln)
|
rs140573963
|
0.00051
|
NM_013382.7(POMT2):c.229G>A (p.Asp77Asn)
|
rs200992827
|
0.00051
|
NM_033629.6(TREX1):c.679G>A (p.Gly227Ser)
|
rs113107733
|
0.00051
|
NM_080680.3(COL11A2):c.517C>T (p.Arg173Trp)
|
rs146522169
|
0.00051
|
NM_182961.4(SYNE1):c.9394A>G (p.Ser3132Gly)
|
rs138481762
|
0.00051
|
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu)
|
rs45496496
|
0.00050
|
NM_001130987.2(DYSF):c.2020A>G (p.Lys674Glu)
|
rs139754493
|
0.00050
|
NM_182961.4(SYNE1):c.5360A>G (p.Glu1787Gly)
|
rs201366911
|
0.00050
|
NM_000161.3(GCH1):c.*20C>T
|
rs143111433
|
0.00049
|
NM_017739.4(POMGNT1):c.421-7C>A
|
rs189274856
|
0.00049
|
NM_182961.4(SYNE1):c.16850G>A (p.Arg5617Gln)
|
rs141550859
|
0.00049
|
NM_004393.6(DAG1):c.1022C>T (p.Thr341Ile)
|
rs148759919
|
0.00048
|
NM_014141.6(CNTNAP2):c.479G>A (p.Arg160His)
|
rs138738227
|
0.00048
|
NM_020247.5(COQ8A):c.730G>C (p.Gly244Arg)
|
rs199619932
|
0.00048
|
NM_024301.5(FKRP):c.456C>G (p.Ser152Arg)
|
rs199714523
|
0.00048
|
NM_005045.4(RELN):c.139G>A (p.Glu47Lys)
|
rs139648092
|
0.00047
|
NM_033629.6(TREX1):c.739G>C (p.Ala247Pro)
|
rs112741962
|
0.00047
|
NM_000370.3(TTPA):c.178G>A (p.Asp60Asn)
|
rs199636231
|
0.00046
|
NM_024596.5(MCPH1):c.783T>A (p.Asp261Glu)
|
rs199700538
|
0.00046
|
NM_032119.4(ADGRV1):c.853C>G (p.Arg285Gly)
|
rs200197273
|
0.00046
|
NM_005477.3(HCN4):c.2800C>T (p.Arg934Cys)
|
rs199638465
|
0.00045
|
NM_006420.3(ARFGEF2):c.172C>T (p.Pro58Ser)
|
rs149471454
|
0.00045
|
NM_182961.4(SYNE1):c.24488T>C (p.Ile8163Thr)
|
rs139643725
|
0.00045
|
NM_001039.4(SCNN1G):c.776C>A (p.Thr259Asn)
|
rs72646501
|
0.00044
|
NM_001130987.2(DYSF):c.6174G>A (p.Arg2058=)
|
rs143762717
|
0.00044
|
NM_004004.6(GJB2):c.-22-6T>C
|
rs141962118
|
0.00044
|
NM_014855.3(AP5Z1):c.584A>G (p.His195Arg)
|
rs117659667
|
0.00044
|
NM_032119.4(ADGRV1):c.4666G>A (p.Glu1556Lys)
|
rs200955930
|
0.00044
|
NM_005529.7(HSPG2):c.6808G>A (p.Gly2270Arg)
|
rs145091234
|
0.00043
|
NM_018136.5(ASPM):c.2263G>A (p.Ala755Thr)
|
rs150852085
|
0.00043
|
NM_018451.5(CENPJ):c.600G>T (p.Gln200His)
|
rs200061825
|
0.00043
|
NM_020365.5(EIF2B3):c.464G>A (p.Arg155His)
|
rs147773599
|
0.00043
|
NM_024577.4(SH3TC2):c.2812C>T (p.His938Tyr)
|
rs144688852
|
0.00043
|
NM_152743.4(BRAT1):c.2029G>A (p.Val677Met)
|
rs141726264
|
0.00043
|
NM_182914.3(SYNE2):c.7976G>A (p.Arg2659Gln)
|
rs199561218
|
0.00043
|
NM_182961.4(SYNE1):c.21149G>A (p.Arg7050Gln)
|
rs143639400
|
0.00043
|
NM_001146262.4(SYT14):c.202A>G (p.Arg68Gly)
|
rs149170280
|
0.00042
|
NM_001195248.2(APTX):c.18G>T (p.Trp6Cys)
|
rs144076460
|
0.00042
|
NM_015346.4(ZFYVE26):c.6448C>T (p.Pro2150Ser)
|
rs138423670
|
0.00042
|
NM_201384.3(PLEC):c.13111G>A (p.Ala4371Thr)
|
rs200361523
|
0.00042
|
NM_002241.5(KCNJ10):c.52C>T (p.Arg18Trp)
|
rs138457635
|
0.00041
|
NM_003611.3(OFD1):c.919G>A (p.Val307Ile)
|
rs139444990
|
0.00041
|
NM_006420.3(ARFGEF2):c.5063C>T (p.Thr1688Ile)
|
rs145439001
|
0.00041
|
NM_020117.11(LARS1):c.1292T>A (p.Val431Asp)
|
rs150429680
|
0.00041
|
NM_032119.4(ADGRV1):c.14632C>T (p.Pro4878Ser)
|
rs201072069
|
0.00041
|
NM_182961.4(SYNE1):c.22913G>A (p.Gly7638Asp)
|
rs142117628
|
0.00041
|
NM_182961.4(SYNE1):c.25751A>C (p.Asp8584Ala)
|
rs41291047
|
0.00041
|
NM_213599.3(ANO5):c.1563G>T (p.Leu521Phe)
|
rs190937193
|
0.00041
|
NM_000370.3(TTPA):c.452G>A (p.Arg151Gln)
|
rs150710403
|
0.00040
|
NM_001009944.3(PKD1):c.11675G>A (p.Arg3892His)
|
rs748887038
|
0.00040
|
NM_001267550.2(TTN):c.34294C>T (p.Pro11432Ser)
|
rs534339525
|
0.00040
|
NM_005592.4(MUSK):c.2203G>A (p.Glu735Lys)
|
rs138418494
|
0.00040
|
NM_014363.6(SACS):c.2602A>G (p.Ile868Val)
|
rs142284018
|
0.00040
|
NM_182961.4(SYNE1):c.14501G>A (p.Arg4834Gln)
|
rs141883764
|
0.00040
|
NM_001031679.3(MSRB3):c.523G>A (p.Ala175Thr)
|
rs200201418
|
0.00039
|
NM_001365999.1(SZT2):c.6077C>A (p.Ala2026Glu)
|
rs140427193
|
0.00039
|
NM_001384140.1(PCDH15):c.2290C>T (p.Arg764Cys)
|
rs192813057
|
0.00039
|
NM_004999.4(MYO6):c.2836C>T (p.Arg946Cys)
|
rs141845119
|
0.00039
|
NM_005529.7(HSPG2):c.9235G>A (p.Val3079Met)
|
rs187525491
|
0.00039
|
NM_017946.4(FKBP14):c.568_570del (p.Lys190del)
|
rs762279651
|
0.00039
|
NM_032119.4(ADGRV1):c.16331C>A (p.Thr5444Lys)
|
rs370906851
|
0.00039
|
NM_005529.7(HSPG2):c.7444C>G (p.Gln2482Glu)
|
rs140049357
|
0.00038
|
NM_014845.6(FIG4):c.2459+5G>A
|
rs367944508
|
0.00038
|
NM_014855.3(AP5Z1):c.313C>T (p.His105Tyr)
|
rs200490093
|
0.00038
|
NM_182914.3(SYNE2):c.6511C>G (p.Leu2171Val)
|
rs199743242
|
0.00038
|
NM_201384.3(PLEC):c.3208A>G (p.Thr1070Ala)
|
rs185859960
|
0.00038
|
NM_033380.3(COL4A5):c.2216C>A (p.Pro739His)
|
rs201123438
|
0.00037
|
NM_182914.3(SYNE2):c.2270T>C (p.Leu757Ser)
|
rs200319405
|
0.00037
|
NM_201384.3(PLEC):c.11329G>A (p.Glu3777Lys)
|
rs538589589
|
0.00037
|
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr)
|
rs147472391
|
0.00036
|
NM_001122955.4(BSCL2):c.823G>A (p.Gly275Arg)
|
rs151018278
|
0.00036
|
NM_001128840.3(CACNA1D):c.3853G>A (p.Ala1285Thr)
|
rs144474773
|
0.00036
|
NM_001130987.2(DYSF):c.4143C>T (p.Gly1381=)
|
rs145412880
|
0.00036
|
NM_005477.3(HCN4):c.2420G>A (p.Arg807His)
|
rs200395062
|
0.00036
|
NM_005529.7(HSPG2):c.5206G>A (p.Val1736Ile)
|
rs200506675
|
0.00036
|
NM_016239.4(MYO15A):c.3659G>A (p.Gly1220Glu)
|
rs201689819
|
0.00036
|
NM_018136.5(ASPM):c.6702A>G (p.Gln2234=)
|
rs142587742
|
0.00036
|
NM_020451.3(SELENON):c.1654G>A (p.Glu552Lys)
|
rs200128474
|
0.00036
|
NM_024577.4(SH3TC2):c.2743A>T (p.Thr915Ser)
|
rs141783628
|
0.00036
|
NM_152564.5(VPS13B):c.4757A>G (p.Asn1586Ser)
|
rs147342579
|
0.00036
|
NM_182914.3(SYNE2):c.15857A>G (p.Tyr5286Cys)
|
rs149354607
|
0.00036
|
NM_000161.3(GCH1):c.206C>T (p.Pro69Leu)
|
rs56127440
|
0.00035
|
NM_001128840.3(CACNA1D):c.5296G>C (p.Ala1766Pro)
|
rs199874790
|
0.00035
|
NM_001845.6(COL4A1):c.2669C>T (p.Pro890Leu)
|
rs139859950
|
0.00035
|
NM_016341.4(PLCE1):c.1201T>C (p.Tyr401His)
|
rs201401363
|
0.00035
|
NM_000360.4(TH):c.1255G>A (p.Val419Met)
|
rs184106392
|
0.00034
|
NM_002292.4(LAMB2):c.598G>A (p.Val200Ile)
|
rs149325182
|
0.00034
|
NM_003560.4(PLA2G6):c.1408A>G (p.Met470Val)
|
rs201801144
|
0.00034
|
NM_005529.7(HSPG2):c.1585G>A (p.Val529Met)
|
rs150648539
|
0.00034
|
NM_006493.4(CLN5):c.265G>A (p.Asp89Asn)
|
rs138110438
|
0.00034
|
NM_020549.5(CHAT):c.2222G>A (p.Arg741Lys)
|
rs114719193
|
0.00034
|
NM_182961.4(SYNE1):c.12970C>T (p.Arg4324Cys)
|
rs142258643
|
0.00034
|
NM_182961.4(SYNE1):c.4732C>T (p.Pro1578Ser)
|
rs199769508
|
0.00034
|
NM_001370298.3(FGD4):c.740T>C (p.Leu247Pro)
|
rs142609007
|
0.00033
|
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys)
|
rs201477273
|
0.00033
|
NM_005548.3(KARS1):c.1485A>G (p.Ile495Met)
|
rs144274136
|
0.00033
|
NM_006859.4(LIAS):c.944G>A (p.Arg315His)
|
rs145535775
|
0.00033
|
NM_018319.4(TDP1):c.1343G>A (p.Arg448Gln)
|
rs144746398
|
0.00033
|
NM_032737.4(LMNB2):c.574G>T (p.Ala192Ser)
|
rs112419003
|
0.00033
|
NM_201525.4(ADGRG1):c.14C>T (p.Ser5Leu)
|
rs147879224
|
0.00033
|
NM_000466.3(PEX1):c.3503A>G (p.Asp1168Gly)
|
rs182452430
|
0.00032
|
NM_001267550.2(TTN):c.68864G>C (p.Gly22955Ala)
|
rs201381085
|
0.00032
|
NM_002693.3(POLG):c.3098C>T (p.Ala1033Val)
|
rs551708243
|
0.00032
|
NM_005529.7(HSPG2):c.7283G>T (p.Gly2428Val)
|
rs561723497
|
0.00032
|
NM_005529.7(HSPG2):c.7423G>C (p.Gly2475Arg)
|
rs142601663
|
0.00032
|
NM_005629.4(SLC6A8):c.544G>A (p.Val182Met)
|
rs149024147
|
0.00032
|
NM_014053.4(FLVCR1):c.1158T>G (p.Ile386Met)
|
rs149834738
|
0.00032
|
NM_014363.6(SACS):c.5583G>C (p.Trp1861Cys)
|
rs140678034
|
0.00032
|
NM_016373.4(WWOX):c.1196C>T (p.Ala399Val)
|
rs200815431
|
0.00032
|
NM_021098.3(CACNA1H):c.2264G>A (p.Gly755Asp)
|
rs142306293
|
0.00032
|
NM_024577.4(SH3TC2):c.794C>T (p.Ser265Phe)
|
rs149873249
|
0.00032
|
NM_024740.2(ALG9):c.694G>C (p.Ala232Pro)
|
rs36111204
|
0.00032
|
NM_000051.4(ATM):c.7740A>C (p.Arg2580Ser)
|
rs199915459
|
0.00031
|
NM_000142.5(FGFR3):c.2396C>T (p.Pro799Leu)
|
rs150452037
|
0.00031
|
NM_000391.4(TPP1):c.1307T>C (p.Leu436Pro)
|
rs150039898
|
0.00031
|
NM_001013693.3(LDLRAD2):c.*1278C>T
|
rs376645617
|
0.00031
|
NM_001267550.2(TTN):c.1297G>A (p.Val433Ile)
|
rs146000949
|
0.00031
|
NM_004004.6(GJB2):c.499G>A (p.Val167Met)
|
rs111033360
|
0.00031
|
NM_004320.6(ATP2A1):c.1367A>G (p.Asn456Ser)
|
rs185041245
|
0.00031
|
NM_005529.7(HSPG2):c.10214C>T (p.Thr3405Met)
|
rs141464124
|
0.00031
|
NM_005529.7(HSPG2):c.337G>A (p.Glu113Lys)
|
rs144511257
|
0.00031
|
NM_005529.7(HSPG2):c.8254G>A (p.Gly2752Arg)
|
rs143734280
|
0.00031
|
NM_018136.5(ASPM):c.3772G>A (p.Ala1258Thr)
|
rs142214506
|
0.00031
|
NM_032409.3(PINK1):c.776+38_776+40del
|
rs760722267
|
0.00031
|
NM_182961.4(SYNE1):c.9091A>G (p.Arg3031Gly)
|
rs144643941
|
0.00031
|
NM_000083.3(CLCN1):c.2545G>A (p.Ala849Thr)
|
rs201861334
|
0.00030
|
NM_001039.4(SCNN1G):c.1939G>T (p.Asp647Tyr)
|
rs72647543
|
0.00030
|
NM_001130987.2(DYSF):c.4792G>A (p.Ala1598Thr)
|
rs146213322
|
0.00030
|
NM_001130987.2(DYSF):c.6063G>A (p.Ala2021=)
|
rs138936064
|
0.00030
|
NM_001164508.2(NEB):c.12597G>A (p.Pro4199=)
|
rs763783436
|
0.00030
|
NM_001267550.2(TTN):c.66673G>A (p.Asp22225Asn)
|
rs72646870
|
0.00030
|
NM_018075.5(ANO10):c.850C>A (p.Pro284Thr)
|
rs192531429
|
0.00030
|
NM_021098.3(CACNA1H):c.1778_1789del (p.His593_Thr597delinsPro)
|
rs768475346
|
0.00030
|
NM_182914.3(SYNE2):c.11047T>A (p.Ser3683Thr)
|
rs199977941
|
0.00030
|
NM_182961.4(SYNE1):c.21782G>A (p.Arg7261Gln)
|
rs61742716
|
0.00030
|
NM_000051.4(ATM):c.4082A>G (p.Gln1361Arg)
|
rs141921797
|
0.00029
|
NM_000336.3(SCNN1B):c.880+10G>A
|
rs200089599
|
0.00029
|
NM_000478.6(ALPL):c.1505C>T (p.Ser502Leu)
|
rs550358395
|
0.00029
|
NM_001009944.3(PKD1):c.8663G>A (p.Arg2888His)
|
rs200168879
|
0.00029
|
NM_001146262.4(SYT14):c.-13T>C
|
rs368545452
|
0.00029
|
NM_001174089.2(SLC4A11):c.2176G>A (p.Gly726Arg)
|
rs143965185
|
0.00029
|
NM_001267550.2(TTN):c.28733C>T (p.Thr9578Met)
|
rs184923756
|
0.00029
|
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp)
|
rs138060032
|
0.00029
|
NM_001292063.2(OTOG):c.5432C>T (p.Ala1811Val)
|
rs779658224
|
0.00029
|
NM_002241.5(KCNJ10):c.1061A>G (p.Lys354Arg)
|
rs142596580
|
0.00029
|
NM_003900.5(SQSTM1):c.457G>A (p.Val153Ile)
|
rs145056421
|
0.00029
|
NM_005529.7(HSPG2):c.6935G>A (p.Arg2312Gln)
|
rs151178822
|
0.00029
|
NM_006005.3(WFS1):c.1265C>T (p.Ala422Val)
|
rs150368988
|
0.00029
|
NM_014363.6(SACS):c.9562T>C (p.Phe3188Leu)
|
rs137905181
|
0.00029
|
NM_016239.4(MYO15A):c.10121G>A (p.Arg3374His)
|
rs201794696
|
0.00029
|
NM_024570.4(RNASEH2B):c.868G>A (p.Asp290Asn)
|
rs201190805
|
0.00029
|
NM_025137.4(SPG11):c.1775C>T (p.Ser592Leu)
|
rs373796566
|
0.00029
|
NM_030962.4(SBF2):c.4522C>T (p.Arg1508Cys)
|
rs141108330
|
0.00029
|
NM_152564.5(VPS13B):c.7669G>A (p.Asp2557Asn)
|
rs773242093
|
0.00029
|
NM_182914.3(SYNE2):c.12307-5T>C
|
rs374468002
|
0.00029
|
NM_182961.4(SYNE1):c.3271C>T (p.Arg1091Trp)
|
rs147841761
|
0.00029
|
NM_003896.4(ST3GAL5):c.1247G>T (p.Arg416Leu)
|
rs200683924
|
0.00028
|
NM_018451.5(CENPJ):c.376A>C (p.Ile126Leu)
|
rs146704811
|
0.00028
|
NM_024577.4(SH3TC2):c.751C>T (p.Pro251Ser)
|
rs144963732
|
0.00028
|
NM_182961.4(SYNE1):c.5170T>C (p.Phe1724Leu)
|
rs141996707
|
0.00028
|
NM_201384.3(PLEC):c.4526G>A (p.Arg1509His)
|
rs782666455
|
0.00028
|
NM_000098.3(CPT2):c.236A>C (p.Lys79Thr)
|
rs150888506
|
0.00027
|
NM_000170.3(GLDC):c.619C>G (p.Leu207Val)
|
rs142181803
|
0.00027
|
NM_000784.4(CYP27A1):c.148G>A (p.Val50Ile)
|
rs149101812
|
0.00027
|
NM_001099922.3(ALG13):c.2975G>A (p.Cys992Tyr)
|
rs190790872
|
0.00027
|
NM_001195263.2(PDZD7):c.1079G>A (p.Gly360Asp)
|
rs571399433
|
0.00027
|
NM_002693.3(POLG):c.391T>C (p.Tyr131His)
|
rs562847013
|
0.00027
|
NM_005529.7(HSPG2):c.12257G>A (p.Arg4086Gln)
|
rs142235298
|
0.00027
|
NM_020247.5(COQ8A):c.62C>T (p.Ala21Val)
|
rs142184584
|
0.00027
|
NM_025137.4(SPG11):c.6625C>T (p.Arg2209Cys)
|
rs374057859
|
0.00027
|
NM_182961.4(SYNE1):c.12023C>A (p.Ala4008Asp)
|
rs137985190
|
0.00027
|
NM_182961.4(SYNE1):c.7435A>G (p.Lys2479Glu)
|
rs188146577
|
0.00027
|
NM_000051.4(ATM):c.4362A>C (p.Lys1454Asn)
|
rs148993589
|
0.00026
|
NM_001164508.2(NEB):c.2540A>G (p.Asp847Gly)
|
rs375894183
|
0.00026
|
NM_001244008.2(KIF1A):c.4927G>A (p.Asp1643Asn)
|
rs200141437
|
0.00026
|
NM_001267550.2(TTN):c.46451G>A (p.Arg15484Lys)
|
rs72677229
|
0.00026
|
NM_001267550.2(TTN):c.47513G>A (p.Arg15838Gln)
|
rs199640194
|
0.00026
|
NM_001379200.1(TBX1):c.1336C>T (p.Pro446Ser)
|
rs201993443
|
0.00026
|
NM_002693.3(POLG):c.328C>T (p.His110Tyr)
|
rs139599587
|
0.00026
|
NM_003042.4(SLC6A1):c.1250G>A (p.Arg417His)
|
rs191293931
|
0.00026
|
NM_005422.4(TECTA):c.327C>T (p.Gly109=)
|
rs727504830
|
0.00026
|
NM_005529.7(HSPG2):c.12929A>C (p.Asp4310Ala)
|
rs144864169
|
0.00026
|
NM_014053.4(FLVCR1):c.595C>T (p.Leu199Phe)
|
rs41296694
|
0.00026
|
NM_015404.4(WHRN):c.1568G>A (p.Ser523Asn)
|
rs140954343
|
0.00026
|
NM_021942.6(TRAPPC11):c.1901A>G (p.Asn634Ser)
|
rs148567547
|
0.00026
|
NM_021942.6(TRAPPC11):c.2508G>A (p.Gln836=)
|
rs201868142
|
0.00026
|
NM_024301.5(FKRP):c.1003G>A (p.Ala335Thr)
|
rs776947530
|
0.00026
|
NM_025137.4(SPG11):c.395G>A (p.Ser132Asn)
|
rs145132275
|
0.00026
|
NM_032806.6(POMGNT2):c.71G>A (p.Arg24Gln)
|
rs139245562
|
0.00026
|
NM_033305.3(VPS13A):c.4390C>A (p.His1464Asn)
|
rs148891181
|
0.00026
|
NM_182961.4(SYNE1):c.9605G>A (p.Arg3202His)
|
rs146769373
|
0.00026
|
NM_201384.3(PLEC):c.9475G>A (p.Ala3159Thr)
|
rs201030020
|
0.00026
|
NM_000548.5(TSC2):c.4223G>T (p.Gly1408Val)
|
rs202068995
|
0.00025
|
NM_001009944.3(PKD1):c.10939C>T (p.Arg3647Trp)
|
rs181927900
|
0.00025
|
NM_001267550.2(TTN):c.84923A>C (p.Gln28308Pro)
|
rs201674674
|
0.00025
|
NM_001365999.1(SZT2):c.2888A>G (p.Lys963Arg)
|
rs144176855
|
0.00025
|
NM_004320.6(ATP2A1):c.2000G>A (p.Arg667Gln)
|
rs141250244
|
0.00025
|
NM_005529.7(HSPG2):c.2633G>A (p.Arg878His)
|
rs149479865
|
0.00025
|
NM_020247.5(COQ8A):c.1286A>G (p.Tyr429Cys)
|
rs144147839
|
0.00025
|
NM_022089.4(ATP13A2):c.472G>A (p.Gly158Arg)
|
rs113643181
|
0.00025
|
NM_025137.4(SPG11):c.3988C>G (p.Gln1330Glu)
|
rs375363608
|
0.00025
|
NM_032119.4(ADGRV1):c.7873C>T (p.Arg2625Cys)
|
rs201583659
|
0.00025
|
NM_201384.3(PLEC):c.1438C>T (p.Arg480Cys)
|
rs202172091
|
0.00025
|
NM_201384.3(PLEC):c.9652C>T (p.Arg3218Trp)
|
rs368758264
|
0.00025
|
NM_000023.4(SGCA):c.680C>G (p.Pro227Arg)
|
rs201131924
|
0.00024
|
NM_000152.5(GAA):c.922C>T (p.His308Tyr)
|
rs112025212
|
0.00024
|
NM_000481.4(AMT):c.152C>T (p.Ala51Val)
|
rs34812788
|
0.00024
|
NM_000497.4(CYP11B1):c.798C>T (p.Tyr266=)
|
rs370404312
|
0.00024
|
NM_001009944.3(PKD1):c.776G>A (p.Cys259Tyr)
|
rs529066905
|
0.00024
|
NM_001077365.2(POMT1):c.1598C>T (p.Ala533Val)
|
rs199682341
|
0.00024
|
NM_001130987.2(DYSF):c.3125C>T (p.Pro1042Leu)
|
rs372880553
|
0.00024
|
NM_001146262.4(SYT14):c.881G>A (p.Gly294Asp)
|
rs149544914
|
0.00024
|
NM_001267550.2(TTN):c.59113C>T (p.Arg19705Cys)
|
rs72646839
|
0.00024
|
NM_001267550.2(TTN):c.88972A>G (p.Ile29658Val)
|
rs200193877
|
0.00024
|
NM_001278064.2(GRM1):c.1073G>A (p.Arg358Lys)
|
rs112817798
|
0.00024
|
NM_001365999.1(SZT2):c.7513C>T (p.Arg2505Cys)
|
rs199830565
|
0.00024
|
NM_003119.4(SPG7):c.1267G>A (p.Gly423Ser)
|
rs201543030
|
0.00024
|
NM_005529.7(HSPG2):c.9060G>A (p.Arg3020=)
|
rs372508479
|
0.00024
|
NM_014363.6(SACS):c.2806C>A (p.Gln936Lys)
|
rs61978562
|
0.00024
|
NM_015046.7(SETX):c.5294A>G (p.Asn1765Ser)
|
rs373085593
|
0.00024
|
NM_030665.4(RAI1):c.3589G>C (p.Gly1197Arg)
|
rs200719553
|
0.00024
|
NM_182961.4(SYNE1):c.16295G>A (p.Arg5432Gln)
|
rs200812806
|
0.00024
|
NM_182961.4(SYNE1):c.18091G>A (p.Glu6031Lys)
|
rs142229551
|
0.00024
|
NM_182961.4(SYNE1):c.23659G>A (p.Val7887Met)
|
rs143842011
|
0.00024
|
NM_182961.4(SYNE1):c.26044G>C (p.Gly8682Arg)
|
rs201664645
|
0.00024
|
NM_182961.4(SYNE1):c.4471C>G (p.Gln1491Glu)
|
rs144276162
|
0.00024
|
NM_001009944.3(PKD1):c.9187C>T (p.Arg3063Cys)
|
rs145906459
|
0.00023
|
NM_001099922.3(ALG13):c.3143C>G (p.Ala1048Gly)
|
rs773401427
|
0.00023
|
NM_001126121.2(SLC25A19):c.622C>T (p.Pro208Ser)
|
rs200276538
|
0.00023
|
NM_001256545.2(MEGF10):c.50G>A (p.Cys17Tyr)
|
rs145733370
|
0.00023
|
NM_001267550.2(TTN):c.94553T>C (p.Val31518Ala)
|
rs377016580
|
0.00023
|
NM_002693.3(POLG):c.408C>G (p.Asp136Glu)
|
rs115109291
|
0.00023
|
NM_005591.4(MRE11):c.1286T>C (p.Val429Ala)
|
rs141293060
|
0.00023
|
NM_005592.4(MUSK):c.1099C>T (p.Arg367Trp)
|
rs201014623
|
0.00023
|
NM_005670.4(EPM2A):c.143G>A (p.Gly48Asp)
|
rs946076987
|
0.00023
|
NM_013275.6(ANKRD11):c.6580C>G (p.Gln2194Glu)
|
rs201589586
|
0.00023
|
NM_016239.4(MYO15A):c.8347G>A (p.Val2783Met)
|
rs201214320
|
0.00023
|
NM_181882.3(PRX):c.3580C>G (p.Leu1194Val)
|
rs149732789
|
0.00023
|
NM_182961.4(SYNE1):c.21029T>A (p.Val7010Glu)
|
rs141275966
|
0.00023
|
NM_182961.4(SYNE1):c.9377C>G (p.Ser3126Cys)
|
rs139089832
|
0.00023
|
NM_201384.3(PLEC):c.5732G>A (p.Gly1911Glu)
|
rs377030479
|
0.00023
|
NM_000051.4(ATM):c.6537T>G (p.Ile2179Met)
|
rs146243469
|
0.00022
|
NM_000091.5(COL4A3):c.4523A>G (p.Asn1508Ser)
|
rs200512461
|
0.00022
|
NM_001008537.3(NEXMIF):c.3775G>A (p.Ala1259Thr)
|
rs761368099
|
0.00022
|
NM_001048166.1(STIL):c.3067G>T (p.Val1023Leu)
|
rs144586803
|
0.00022
|
NM_001267550.2(TTN):c.19016A>G (p.Tyr6339Cys)
|
rs192553687
|
0.00022
|
NM_001267550.2(TTN):c.32026A>G (p.Lys10676Glu)
|
rs200952728
|
0.00022
|
NM_001267550.2(TTN):c.33911-6_33911-5insG
|
rs765503214
|
0.00022
|
NM_001378454.1(ALMS1):c.12044G>A (p.Gly4015Asp)
|
rs200462734
|
0.00022
|
NM_003119.4(SPG7):c.220G>A (p.Gly74Arg)
|
rs114854791
|
0.00022
|
NM_004086.3(COCH):c.22G>A (p.Ala8Thr)
|
rs200935305
|
0.00022
|
NM_005529.7(HSPG2):c.10525G>A (p.Glu3509Lys)
|
rs143210045
|
0.00022
|
NM_005529.7(HSPG2):c.5335C>T (p.Arg1779Trp)
|
rs148803046
|
0.00022
|
NM_014845.6(FIG4):c.2460-8A>G
|
rs201965891
|
0.00022
|
NM_025137.4(SPG11):c.6010T>G (p.Leu2004Val)
|
rs200220848
|
0.00022
|
NM_182961.4(SYNE1):c.6428A>G (p.Asp2143Gly)
|
rs189734757
|
0.00022
|
NM_000092.5(COL4A4):c.2144C>T (p.Ala715Val)
|
rs76636743
|
0.00021
|
NM_001077365.2(POMT1):c.1150G>A (p.Gly384Ser)
|
rs146234177
|
0.00021
|
NM_001081.4(CUBN):c.9079G>A (p.Gly3027Arg)
|
rs150202444
|
0.00021
|
NM_001130987.2(DYSF):c.6256A>G (p.Ile2086Val)
|
rs150834671
|
0.00021
|
NM_001244008.2(KIF1A):c.3668C>T (p.Thr1223Met)
|
rs374873057
|
0.00021
|
NM_001267550.2(TTN):c.7060C>T (p.Arg2354Cys)
|
rs145039979
|
0.00021
|
NM_001278064.2(GRM1):c.1372T>G (p.Ser458Ala)
|
rs151255685
|
0.00021
|
NM_001365999.1(SZT2):c.368A>G (p.His123Arg)
|
rs147519875
|
0.00021
|
NM_001927.4(DES):c.736-8C>A
|
rs140375681
|
0.00021
|
NM_002775.5(HTRA1):c.245C>G (p.Pro82Arg)
|
rs541204010
|
0.00021
|
NM_005045.4(RELN):c.6726G>C (p.Arg2242Ser)
|
rs201422815
|
0.00021
|
NM_006397.3(RNASEH2A):c.821A>G (p.Asn274Ser)
|
rs373169862
|
0.00021
|
NM_014141.6(CNTNAP2):c.400T>G (p.Trp134Gly)
|
rs139694086
|
0.00021
|
NM_015046.7(SETX):c.1391C>T (p.Ser464Leu)
|
rs200614765
|
0.00021
|
NM_017739.4(POMGNT1):c.269G>A (p.Arg90His)
|
rs139701867
|
0.00021
|
NM_018136.5(ASPM):c.8009T>C (p.Ile2670Thr)
|
rs41299627
|
0.00021
|
NM_021942.6(TRAPPC11):c.3400T>C (p.Ter1134Arg)
|
rs142222368
|
0.00021
|
NM_025137.4(SPG11):c.28G>A (p.Ala10Thr)
|
rs372658867
|
0.00021
|
NM_177924.5(ASAH1):c.320A>G (p.Asn107Ser)
|
rs200767975
|
0.00021
|
NM_182961.4(SYNE1):c.17974C>G (p.Pro5992Ala)
|
rs200701182
|
0.00021
|
NM_182961.4(SYNE1):c.3669+4C>G
|
rs376511242
|
0.00021
|
NM_182961.4(SYNE1):c.8311G>A (p.Val2771Ile)
|
rs374862218
|
0.00021
|
NM_201384.3(PLEC):c.10603G>A (p.Glu3535Lys)
|
rs200034893
|
0.00021
|
NM_000092.5(COL4A4):c.929G>A (p.Arg310Gln)
|
rs373741172
|
0.00020
|
NM_000217.3(KCNA1):c.60G>C (p.Gln20His)
|
rs201504073
|
0.00020
|
NM_001127222.2(CACNA1A):c.7189G>A (p.Val2397Met)
|
rs768129470
|
0.00020
|
NM_001164508.2(NEB):c.6381T>A (p.Asp2127Glu)
|
rs368302286
|
0.00020
|
NM_001267550.2(TTN):c.104516G>A (p.Arg34839Gln)
|
rs371628882
|
0.00020
|
NM_001267550.2(TTN):c.13262A>G (p.Asn4421Ser)
|
rs72648922
|
0.00020
|
NM_001267550.2(TTN):c.30389G>A (p.Arg10130His)
|
rs373355159
|
0.00020
|
NM_001267550.2(TTN):c.31114G>C (p.Glu10372Gln)
|
rs200831060
|
0.00020
|
NM_001267550.2(TTN):c.80555G>A (p.Arg26852His)
|
rs202149931
|
0.00020
|
NM_001267550.2(TTN):c.84203G>C (p.Ser28068Thr)
|
rs72648219
|
0.00020
|
NM_001267550.2(TTN):c.93244G>A (p.Glu31082Lys)
|
rs199663613
|
0.00020
|
NM_001278064.2(GRM1):c.2725A>C (p.Met909Leu)
|
rs138759146
|
0.00020
|
NM_003560.4(PLA2G6):c.439G>A (p.Ala147Thr)
|
rs138672490
|
0.00020
|
NM_005529.7(HSPG2):c.878G>A (p.Arg293His)
|
rs139873789
|
0.00020
|
NM_014043.4(CHMP2B):c.85A>G (p.Ile29Val)
|
rs63750818
|
0.00020
|
NM_015046.7(SETX):c.4273A>G (p.Lys1425Glu)
|
rs534886444
|
0.00020
|
NM_018136.5(ASPM):c.7428G>T (p.Lys2476Asn)
|
rs200654820
|
0.00020
|
NM_018979.4(WNK1):c.5851A>G (p.Thr1951Ala)
|
rs72650764
|
0.00020
|
NM_030962.4(SBF2):c.3831C>G (p.Ile1277Met)
|
rs139522696
|
0.00020
|
NM_032119.4(ADGRV1):c.12349C>T (p.Arg4117Cys)
|
rs138908576
|
0.00020
|
NM_182914.3(SYNE2):c.16312G>A (p.Asp5438Asn)
|
rs201134182
|
0.00020
|
NM_182961.4(SYNE1):c.22346+6G>T
|
rs368678916
|
0.00020
|
NM_201384.3(PLEC):c.11818G>A (p.Val3940Met)
|
rs534537112
|
0.00020
|
NM_000023.4(SGCA):c.37+10G>T
|
rs200626376
|
0.00019
|
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu)
|
rs147187700
|
0.00019
|
NM_000051.4(ATM):c.8734A>G (p.Arg2912Gly)
|
rs376676328
|
0.00019
|
NM_000218.3(KCNQ1):c.386+16216G>A
|
rs201090517
|
0.00019
|
NM_000426.4(LAMA2):c.2325C>A (p.Asn775Lys)
|
rs139351727
|
0.00019
|
NM_000426.4(LAMA2):c.4909G>A (p.Glu1637Lys)
|
rs138303386
|
0.00019
|
NM_001009944.3(PKD1):c.1117C>G (p.Leu373Val)
|
rs765067070
|
0.00019
|
NM_001009944.3(PKD1):c.4008C>A (p.Asn1336Lys)
|
rs770514810
|
0.00019
|
NM_001146262.4(SYT14):c.398C>T (p.Ser133Leu)
|
rs145963511
|
0.00019
|
NM_001164508.2(NEB):c.18410C>T (p.Thr6137Met)
|
rs201462794
|
0.00019
|
NM_001242896.3(DEPDC5):c.4391C>T (p.Thr1464Met)
|
rs556147064
|
0.00019
|
NM_001267550.2(TTN):c.100447G>C (p.Glu33483Gln)
|
rs368321767
|
0.00019
|
NM_001267550.2(TTN):c.3133G>A (p.Val1045Met)
|
rs72647868
|
0.00019
|
NM_001267550.2(TTN):c.3170T>C (p.Val1057Ala)
|
rs145940356
|
0.00019
|
NM_001267550.2(TTN):c.33856G>A (p.Glu11286Lys)
|
rs376874956
|
0.00019
|
NM_001267550.2(TTN):c.52826A>T (p.Gln17609Leu)
|
rs368820294
|
0.00019
|
NM_001267550.2(TTN):c.89314G>A (p.Glu29772Lys)
|
rs200503016
|
0.00019
|
NM_001367561.1(DOCK7):c.3797G>A (p.Arg1266Gln)
|
rs138914992
|
0.00019
|
NM_003793.4(CTSF):c.19C>T (p.Leu7Phe)
|
rs544669445
|
0.00019
|
NM_005045.4(RELN):c.10016T>C (p.Met3339Thr)
|
rs150638029
|
0.00019
|
NM_005529.7(HSPG2):c.1259G>A (p.Arg420Gln)
|
rs143706338
|
0.00019
|
NM_014053.4(FLVCR1):c.254G>C (p.Gly85Ala)
|
rs760414651
|
0.00019
|
NM_015087.5(SPART):c.1414G>T (p.Ala472Ser)
|
rs142482393
|
0.00019
|
NM_018075.5(ANO10):c.1864A>G (p.Met622Val)
|
rs141806947
|
0.00019
|
NM_018075.5(ANO10):c.790G>A (p.Gly264Ser)
|
rs375470443
|
0.00019
|
NM_018136.5(ASPM):c.3311G>A (p.Gly1104Asp)
|
rs146959075
|
0.00019
|
NM_021942.6(TRAPPC11):c.2419G>A (p.Val807Met)
|
rs139113789
|
0.00019
|
NM_022772.4(EPS8L2):c.80T>C (p.Met27Thr)
|
rs143833069
|
0.00019
|
NM_181882.3(PRX):c.257G>A (p.Cys86Tyr)
|
rs565094384
|
0.00019
|
NM_182961.4(SYNE1):c.10475G>A (p.Arg3492His)
|
rs148522587
|
0.00019
|
NM_182961.4(SYNE1):c.13768A>G (p.Asn4590Asp)
|
rs199761238
|
0.00019
|
NM_182961.4(SYNE1):c.23216C>A (p.Ser7739Tyr)
|
rs149744490
|
0.00019
|
NM_182961.4(SYNE1):c.7045C>T (p.Leu2349Phe)
|
rs370016934
|
0.00019
|
NM_201384.3(PLEC):c.9580G>A (p.Glu3194Lys)
|
rs529809254
|
0.00019
|
NM_000370.3(TTPA):c.204+6C>T
|
rs574780098
|
0.00018
|
NM_000370.3(TTPA):c.760G>T (p.Asp254Tyr)
|
rs374606907
|
0.00018
|
NM_001009944.3(PKD1):c.5665G>A (p.Gly1889Ser)
|
rs138471993
|
0.00018
|
NM_001130987.2(DYSF):c.2257C>A (p.His753Asn)
|
rs202123283
|
0.00018
|
NM_001130987.2(DYSF):c.3304C>T (p.Arg1102Cys)
|
rs764208388
|
0.00018
|
NM_001164508.2(NEB):c.4046T>C (p.Leu1349Pro)
|
rs183667452
|
0.00018
|
NM_001267550.2(TTN):c.100432T>G (p.Trp33478Gly)
|
rs372304158
|
0.00018
|
NM_001267550.2(TTN):c.43577G>A (p.Arg14526Gln)
|
rs373491468
|
0.00018
|
NM_003482.4(KMT2D):c.14413G>A (p.Glu4805Lys)
|
rs563335387
|
0.00018
|
NM_005529.7(HSPG2):c.6002G>A (p.Arg2001Gln)
|
rs368627489
|
0.00018
|
NM_005529.7(HSPG2):c.6820G>A (p.Ala2274Thr)
|
rs190391786
|
0.00018
|
NM_014141.6(CNTNAP2):c.2606T>C (p.Ile869Thr)
|
rs121908445
|
0.00018
|
NM_015346.4(ZFYVE26):c.6154G>A (p.Val2052Ile)
|
rs201273304
|
0.00018
|
NM_018136.5(ASPM):c.4933G>A (p.Gly1645Arg)
|
rs201927596
|
0.00018
|
NM_022464.5(SIL1):c.310C>G (p.Leu104Val)
|
rs150892227
|
0.00018
|
NM_182914.3(SYNE2):c.19034G>A (p.Arg6345Gln)
|
rs141882853
|
0.00018
|
NM_201384.3(PLEC):c.13247C>T (p.Thr4416Met)
|
rs201855218
|
0.00018
|
NM_201384.3(PLEC):c.8497G>A (p.Gly2833Ser)
|
rs782099953
|
0.00018
|
NM_201525.4(ADGRG1):c.401C>T (p.Pro134Leu)
|
rs138344683
|
0.00018
|
NM_213599.3(ANO5):c.553G>C (p.Glu185Gln)
|
rs140381407
|
0.00018
|
NM_000051.4(ATM):c.1009C>T (p.Arg337Cys)
|
rs138398778
|
0.00017
|
NM_000170.3(GLDC):c.2352C>T (p.Pro784=)
|
rs367781728
|
0.00017
|
NM_000256.3(MYBPC3):c.3415G>A (p.Val1139Ile)
|
rs373519667
|
0.00017
|
NM_001077365.2(POMT1):c.586G>A (p.Ala196Thr)
|
rs199498900
|
0.00017
|
NM_001127222.2(CACNA1A):c.6494G>A (p.Arg2165His)
|
rs727503832
|
0.00017
|
NM_001127222.2(CACNA1A):c.7050C>T (p.Ala2350=)
|
rs932173199
|
0.00017
|
NM_001145026.2(PTPRQ):c.5191G>A (p.Gly1731Ser)
|
rs1028900450
|
0.00017
|
NM_001267550.2(TTN):c.22439A>C (p.Gln7480Pro)
|
rs201065037
|
0.00017
|
NM_001267550.2(TTN):c.38506G>A (p.Val12836Met)
|
rs779238709
|
0.00017
|
NM_001267550.2(TTN):c.50212G>A (p.Glu16738Lys)
|
rs148018042
|
0.00017
|
NM_001278064.2(GRM1):c.1689A>C (p.Lys563Asn)
|
rs372316073
|
0.00017
|
NM_005529.7(HSPG2):c.12520C>T (p.Arg4174Cys)
|
rs199899258
|
0.00017
|
NM_012301.4(MAGI2):c.307A>G (p.Ile103Val)
|
rs1238715028
|
0.00017
|
NM_014363.6(SACS):c.2492A>G (p.Glu831Gly)
|
rs375968367
|
0.00017
|
NM_014363.6(SACS):c.6640C>T (p.Arg2214Cys)
|
rs138379074
|
0.00017
|
NM_014855.3(AP5Z1):c.2053C>T (p.Arg685Cys)
|
rs367867460
|
0.00017
|
NM_018075.5(ANO10):c.236T>G (p.Met79Arg)
|
rs201275096
|
0.00017
|
NM_018319.4(TDP1):c.137A>G (p.Tyr46Cys)
|
rs141387488
|
0.00017
|
NM_018319.4(TDP1):c.236G>C (p.Ser79Thr)
|
rs148927677
|
0.00017
|
NM_018972.4(GDAP1):c.399G>A (p.Met133Ile)
|
rs139808557
|
0.00017
|
NM_031443.4(CCM2):c.1061G>A (p.Arg354Lys)
|
rs145579135
|
0.00017
|
NM_182914.3(SYNE2):c.12655G>A (p.Ala4219Thr)
|
rs138644399
|
0.00017
|
NM_182961.4(SYNE1):c.16831C>T (p.Arg5611Trp)
|
rs369292604
|
0.00017
|
NM_182961.4(SYNE1):c.22910G>C (p.Ser7637Thr)
|
rs201497427
|
0.00017
|
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp)
|
rs201199629
|
0.00016
|
NM_000352.6(ABCC8):c.1919C>T (p.Ala640Val)
|
rs369049969
|
0.00016
|
NM_000426.4(LAMA2):c.7057C>T (p.Arg2353Cys)
|
rs145885540
|
0.00016
|
NM_000784.4(CYP27A1):c.1017+5G>A
|
rs370304209
|
0.00016
|
NM_000784.4(CYP27A1):c.1343G>A (p.Arg448His)
|
rs370868184
|
0.00016
|
NM_001009944.3(PKD1):c.1967T>A (p.Leu656Gln)
|
rs759950842
|
0.00016
|
NM_001009944.3(PKD1):c.9451C>T (p.His3151Tyr)
|
rs149872222
|
0.00016
|
NM_001080414.4(CCDC88C):c.2958G>A (p.Met986Ile)
|
rs182438780
|
0.00016
|
NM_001122955.4(BSCL2):c.1367G>A (p.Arg456His)
|
rs149466797
|
0.00016
|
NM_001127222.2(CACNA1A):c.5170G>A (p.Asp1724Asn)
|
rs371595464
|
0.00016
|
NM_001130987.2(DYSF):c.3778C>T (p.Arg1260Cys)
|
rs369170272
|
0.00016
|
NM_001130987.2(DYSF):c.5362C>T (p.Arg1788Cys)
|
rs545645581
|
0.00016
|
NM_001164508.2(NEB):c.7309C>T (p.Arg2437Trp)
|
rs375164626
|
0.00016
|
NM_001195248.2(APTX):c.181G>A (p.Val61Ile)
|
rs755448350
|
0.00016
|
NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu)
|
rs72629783
|
0.00016
|
NM_001267550.2(TTN):c.106955G>A (p.Arg35652Gln)
|
rs200497615
|
0.00016
|
NM_001267550.2(TTN):c.12145C>T (p.Pro4049Ser)
|
rs201888760
|
0.00016
|
NM_001267550.2(TTN):c.54104C>T (p.Ala18035Val)
|
rs182445366
|
0.00016
|
NM_001267550.2(TTN):c.63626G>A (p.Arg21209Gln)
|
rs148684589
|
0.00016
|
NM_001267550.2(TTN):c.64898G>A (p.Arg21633Gln)
|
rs141965360
|
0.00016
|
NM_001267550.2(TTN):c.92684G>A (p.Arg30895Gln)
|
rs200141081
|
0.00016
|
NM_001393500.2(TOMT):c.703C>T (p.His235Tyr)
|
rs570166217
|
0.00016
|
NM_001927.4(DES):c.643G>A (p.Val215Met)
|
rs144908941
|
0.00016
|
NM_002693.3(POLG):c.32G>A (p.Gly11Asp)
|
rs765472726
|
0.00016
|
NM_004004.6(GJB2):c.355G>A (p.Glu119Lys)
|
rs150529554
|
0.00016
|
NM_004006.3(DMD):c.1761A>G (p.Thr587=)
|
rs370103963
|
0.00016
|
NM_004287.5(GOSR2):c.64C>T (p.Leu22=)
|
rs770760366
|
0.00016
|
NM_004960.4(FUS):c.1292C>T (p.Pro431Leu)
|
rs186547381
|
0.00016
|
NM_005529.7(HSPG2):c.5347G>A (p.Val1783Met)
|
rs200944352
|
0.00016
|
NM_005529.7(HSPG2):c.5486A>G (p.Asn1829Ser)
|
rs371550970
|
0.00016
|
NM_005529.7(HSPG2):c.7843G>A (p.Val2615Ile)
|
rs142226974
|
0.00016
|
NM_005591.4(MRE11):c.1643T>C (p.Ile548Thr)
|
rs373522639
|
0.00016
|
NM_015046.7(SETX):c.1066G>A (p.Val356Ile)
|
rs143270460
|
0.00016
|
NM_015046.7(SETX):c.7195A>G (p.Ile2399Val)
|
rs150489999
|
0.00016
|
NM_015634.4(KIFBP):c.550A>G (p.Thr184Ala)
|
rs112642097
|
0.00016
|
NM_017433.5(MYO3A):c.2774C>T (p.Thr925Met)
|
rs149803315
|
0.00016
|
NM_020247.5(COQ8A):c.1556C>G (p.Thr519Ser)
|
rs141260985
|
0.00016
|
NM_022464.5(SIL1):c.424G>C (p.Ala142Pro)
|
rs142987777
|
0.00016
|
NM_024306.5(FA2H):c.1112C>T (p.Thr371Met)
|
rs141854925
|
0.00016
|
NM_024577.4(SH3TC2):c.1973G>A (p.Arg658His)
|
rs138040787
|
0.00016
|
NM_024577.4(SH3TC2):c.2954A>G (p.Glu985Gly)
|
rs575937427
|
0.00016
|
NM_030962.4(SBF2):c.3127A>G (p.Ile1043Val)
|
rs147438385
|
0.00016
|
NM_152743.4(BRAT1):c.1087G>A (p.Gly363Ser)
|
rs967919052
|
0.00016
|
NM_182961.4(SYNE1):c.16687C>T (p.Arg5563Trp)
|
rs375097544
|
0.00016
|
NM_182961.4(SYNE1):c.21731A>G (p.Tyr7244Cys)
|
rs536892317
|
0.00016
|
NM_182961.4(SYNE1):c.25342G>A (p.Asp8448Asn)
|
rs139679692
|
0.00016
|
NM_182961.4(SYNE1):c.25484G>A (p.Arg8495His)
|
rs558046278
|
0.00016
|
NM_182961.4(SYNE1):c.4261A>G (p.Lys1421Glu)
|
rs369236839
|
0.00016
|
NM_182961.4(SYNE1):c.4636A>G (p.Thr1546Ala)
|
rs146965313
|
0.00016
|
NM_182961.4(SYNE1):c.6649G>A (p.Val2217Ile)
|
rs377531174
|
0.00016
|
NM_201378.4(PLEC):c.71-11719G>A
|
rs202165668
|
0.00016
|
NM_201384.3(PLEC):c.5965C>T (p.Arg1989Cys)
|
rs201465091
|
0.00016
|
NM_207346.3(TSEN54):c.991G>A (p.Glu331Lys)
|
rs773368581
|
0.00016
|
NM_000026.4(ADSL):c.357+6C>T
|
rs181628906
|
0.00015
|
NM_000051.4(ATM):c.2887A>G (p.Met963Val)
|
rs374353016
|
0.00015
|
NM_000051.4(ATM):c.8156G>A (p.Arg2719His)
|
rs55982963
|
0.00015
|
NM_000083.3(CLCN1):c.139C>T (p.Arg47Trp)
|
rs185031797
|
0.00015
|
NM_000162.5(GCK):c.364-13G>A
|
rs372405219
|
0.00015
|
NM_000540.3(RYR1):c.305A>G (p.Tyr102Cys)
|
rs760138384
|
0.00015
|
NM_001040142.2(SCN2A):c.5753G>A (p.Arg1918His)
|
rs201718767
|
0.00015
|
NM_001077365.2(POMT1):c.1117G>C (p.Val373Leu)
|
rs200508760
|
0.00015
|
NM_001097577.3(ANG):c.61C>T (p.Pro21Ser)
|
rs149672657
|
0.00015
|
NM_001130987.2(DYSF):c.3409G>A (p.Val1137Met)
|
rs144634077
|
0.00015
|
NM_001244008.2(KIF1A):c.3680C>T (p.Pro1227Leu)
|
rs374244985
|
0.00015
|
NM_001267550.2(TTN):c.25877A>G (p.Asn8626Ser)
|
rs200355367
|
0.00015
|
NM_001267550.2(TTN):c.56255C>T (p.Pro18752Leu)
|
rs200132226
|
0.00015
|
NM_001371279.1(REEP1):c.*82G>A
|
rs904027097
|
0.00015
|
NM_001845.6(COL4A1):c.3170T>C (p.Ile1057Thr)
|
rs569940067
|
0.00015
|
NM_002693.3(POLG):c.1356T>C (p.Tyr452=)
|
rs3176179
|
0.00015
|
NM_004004.6(GJB2):c.670A>C (p.Lys224Gln)
|
rs111033194
|
0.00015
|
NM_004393.6(DAG1):c.1757C>T (p.Ser586Leu)
|
rs371990100
|
0.00015
|
NM_014043.4(CHMP2B):c.581C>T (p.Ser194Leu)
|
rs149380040
|
0.00015
|
NM_015046.7(SETX):c.1869A>C (p.Glu623Asp)
|
rs139200312
|
0.00015
|
NM_017739.4(POMGNT1):c.1454G>A (p.Arg485His)
|
rs544816408
|
0.00015
|
NM_018100.4(EFHC1):c.1369C>T (p.Arg457Cys)
|
rs373196171
|
0.00015
|
NM_018136.5(ASPM):c.2761-11T>C
|
rs368239890
|
0.00015
|
NM_033305.3(VPS13A):c.7047G>A (p.Glu2349=)
|
rs552113529
|
0.00015
|
NM_182961.4(SYNE1):c.12115G>A (p.Val4039Ile)
|
rs199774691
|
0.00015
|
NM_182961.4(SYNE1):c.13849A>C (p.Asn4617His)
|
rs147667464
|
0.00015
|
NM_182961.4(SYNE1):c.18817G>A (p.Glu6273Lys)
|
rs201346604
|
0.00015
|
NM_182961.4(SYNE1):c.21440T>C (p.Met7147Thr)
|
rs140962690
|
0.00015
|
NM_201384.3(PLEC):c.11657G>A (p.Arg3886His)
|
rs368152307
|
0.00015
|
NM_201384.3(PLEC):c.6243C>T (p.Gly2081=)
|
rs782746363
|
0.00015
|
NM_000051.4(ATM):c.2927T>C (p.Val976Ala)
|
rs146145357
|
0.00014
|
NM_000051.4(ATM):c.4066A>G (p.Asn1356Asp)
|
rs147600485
|
0.00014
|
NM_000051.4(ATM):c.6194T>C (p.Ile2065Thr)
|
rs372838622
|
0.00014
|
NM_000051.4(ATM):c.7618G>A (p.Val2540Ile)
|
rs35203200
|
0.00014
|
NM_000144.5(FXN):c.70C>T (p.Leu24Phe)
|
rs1052328470
|
0.00014
|
NM_000231.3(SGCG):c.803C>T (p.Pro268Leu)
|
rs143110015
|
0.00014
|
NM_000260.4(MYO7A):c.1801G>A (p.Ala601Thr)
|
rs782481491
|
0.00014
|
NM_000338.3(SLC12A1):c.2342A>G (p.Tyr781Cys)
|
rs370908136
|
0.00014
|
NM_000426.4(LAMA2):c.3628A>G (p.Ile1210Val)
|
rs147291222
|
0.00014
|
NM_000426.4(LAMA2):c.5291A>G (p.Glu1764Gly)
|
rs141950826
|
0.00014
|
NM_000540.3(RYR1):c.3095G>A (p.Arg1032His)
|
rs141942845
|
0.00014
|
NM_000784.4(CYP27A1):c.215T>A (p.Leu72Gln)
|
rs138189735
|
0.00014
|
NM_001130987.2(DYSF):c.5276G>A (p.Arg1759His)
|
rs147678255
|
0.00014
|
NM_001130987.2(DYSF):c.854G>A (p.Arg285Gln)
|
rs140002194
|
0.00014
|
NM_001267550.2(TTN):c.107915G>T (p.Ser35972Ile)
|
rs397517478
|
0.00014
|
NM_001267550.2(TTN):c.2731G>A (p.Val911Ile)
|
rs141961878
|
0.00014
|
NM_001267550.2(TTN):c.3010G>A (p.Glu1004Lys)
|
rs200902055
|
0.00014
|
NM_001267550.2(TTN):c.35371G>T (p.Val11791Phe)
|
rs200587998
|
0.00014
|
NM_001267550.2(TTN):c.54160G>C (p.Val18054Leu)
|
rs200968679
|
0.00014
|
NM_001267550.2(TTN):c.57656A>T (p.Tyr19219Phe)
|
rs201541213
|
0.00014
|
NM_001267550.2(TTN):c.75490G>A (p.Asp25164Asn)
|
rs192468365
|
0.00014
|
NM_001267550.2(TTN):c.96173G>A (p.Arg32058Gln)
|
rs374063064
|
0.00014
|
NM_001367561.1(DOCK7):c.3300+8A>G
|
rs368422761
|
0.00014
|
NM_001371623.1(TCOF1):c.4079C>T (p.Pro1360Leu)
|
rs541861585
|
0.00014
|
NM_001927.4(DES):c.893C>T (p.Ser298Leu)
|
rs62636491
|
0.00014
|
NM_002693.3(POLG):c.3436C>T (p.Arg1146Cys)
|
rs2307440
|
0.00014
|
NM_004172.5(SLC1A3):c.613G>A (p.Ala205Thr)
|
rs747247810
|
0.00014
|
NM_004393.6(DAG1):c.965C>T (p.Thr322Ile)
|
rs376602004
|
0.00014
|
NM_004568.6(SERPINB6):c.983C>T (p.Thr328Met)
|
rs376116821
|
0.00014
|
NM_005045.4(RELN):c.7634C>T (p.Ala2545Val)
|
rs116634494
|
0.00014
|
NM_005477.3(HCN4):c.2730C>A (p.Phe910Leu)
|
rs200814534
|
0.00014
|
NM_005529.7(HSPG2):c.5891G>A (p.Arg1964Lys)
|
rs373448635
|
0.00014
|
NM_005591.4(MRE11):c.1334A>G (p.Gln445Arg)
|
rs371730091
|
0.00014
|
NM_005866.4(SIGMAR1):c.11C>T (p.Ala4Val)
|
rs367968662
|
0.00014
|
NM_006096.4(NDRG1):c.1088G>A (p.Arg363His)
|
rs181121989
|
0.00014
|
NM_014845.6(FIG4):c.1348C>T (p.Arg450Cys)
|
rs201072058
|
0.00014
|
NM_015346.4(ZFYVE26):c.1482C>A (p.Asn494Lys)
|
rs559473389
|
0.00014
|
NM_015346.4(ZFYVE26):c.3802C>T (p.Leu1268Phe)
|
rs202021708
|
0.00014
|
NM_016156.6(MTMR2):c.16A>T (p.Ser6Cys)
|
rs377006678
|
0.00014
|
NM_016156.6(MTMR2):c.604C>G (p.Pro202Ala)
|
rs186380748
|
0.00014
|
NM_016239.4(MYO15A):c.9772G>A (p.Val3258Ile)
|
rs79745502
|
0.00014
|
NM_018075.5(ANO10):c.837A>T (p.Arg279Ser)
|
rs374795191
|
0.00014
|
NM_018319.4(TDP1):c.208T>A (p.Ser70Thr)
|
rs140058160
|
0.00014
|
NM_020247.5(COQ8A):c.1057C>T (p.Arg353Cys)
|
rs373083392
|
0.00014
|
NM_020919.4(ALS2):c.3746T>C (p.Phe1249Ser)
|
rs551822626
|
0.00014
|
NM_021098.3(CACNA1H):c.1753C>T (p.Pro585Ser)
|
rs535609762
|
0.00014
|
NM_024577.4(SH3TC2):c.1607G>A (p.Arg536Gln)
|
rs369977771
|
0.00014
|
NM_025137.4(SPG11):c.2318T>G (p.Val773Gly)
|
rs182080501
|
0.00014
|
NM_057176.3(BSND):c.763G>C (p.Glu255Gln)
|
rs148609746
|
0.00014
|
NM_152564.5(VPS13B):c.7660G>C (p.Val2554Leu)
|
rs202226215
|
0.00014
|
NM_176787.5(PIGN):c.2679C>G (p.Ser893Arg)
|
rs199573774
|
0.00014
|
NM_176787.5(PIGN):c.2750C>T (p.Thr917Met)
|
rs61755364
|
0.00014
|
NM_177924.5(ASAH1):c.-6A>G
|
rs200503438
|
0.00014
|
NM_181882.3(PRX):c.2449C>T (p.Arg817Cys)
|
rs147441856
|
0.00014
|
NM_182961.4(SYNE1):c.10078C>A (p.Gln3360Lys)
|
rs774710219
|
0.00014
|
NM_182961.4(SYNE1):c.14029G>A (p.Ala4677Thr)
|
rs374301933
|
0.00014
|
NM_182961.4(SYNE1):c.15535G>T (p.Ala5179Ser)
|
rs375686353
|
0.00014
|
NM_182961.4(SYNE1):c.22783A>G (p.Ile7595Val)
|
rs146320179
|
0.00014
|
NM_182961.4(SYNE1):c.23222A>G (p.Tyr7741Cys)
|
rs34974663
|
0.00014
|
NM_182961.4(SYNE1):c.7076C>A (p.Thr2359Asn)
|
rs142747430
|
0.00014
|
NM_201384.3(PLEC):c.12992C>T (p.Pro4331Leu)
|
rs199651668
|
0.00014
|
NM_000051.4(ATM):c.8560C>T (p.Arg2854Cys)
|
rs201958469
|
0.00013
|
NM_000110.4(DPYD):c.274C>G (p.Pro92Ala)
|
rs143986398
|
0.00013
|
NM_000156.6(GAMT):c.575C>T (p.Thr192Met)
|
rs141066224
|
0.00013
|
NM_000238.4(KCNH2):c.2692+7C>T
|
rs372023163
|
0.00013
|
NM_000335.5(SCN5A):c.5857G>A (p.Glu1953Lys)
|
rs397517956
|
0.00013
|
NM_001005361.3(DNM2):c.1645T>A (p.Ser549Thr)
|
rs144763522
|
0.00013
|
NM_001009944.3(PKD1):c.7039C>T (p.Arg2347Cys)
|
rs781114712
|
0.00013
|
NM_001127222.2(CACNA1A):c.3043G>A (p.Gly1015Arg)
|
rs190551509
|
0.00013
|
NM_001127222.2(CACNA1A):c.539+9C>T
|
rs369146237
|
0.00013
|
NM_001130987.2(DYSF):c.127G>A (p.Val43Met)
|
rs374203339
|
0.00013
|
NM_001267550.2(TTN):c.100417G>A (p.Gly33473Ser)
|
rs397517783
|
0.00013
|
NM_001267550.2(TTN):c.49172G>A (p.Arg16391Gln)
|
rs200944827
|
0.00013
|
NM_001384474.1(LOXHD1):c.287G>A (p.Arg96Gln)
|
rs376467400
|
0.00013
|
NM_002529.4(NTRK1):c.1747C>T (p.Arg583Cys)
|
rs371344688
|
0.00013
|
NM_002693.3(POLG):c.2939A>C (p.Glu980Ala)
|
rs754202777
|
0.00013
|
NM_002775.5(HTRA1):c.1333G>A (p.Ala445Thr)
|
rs371279115
|
0.00013
|
NM_003119.4(SPG7):c.80C>G (p.Pro27Arg)
|
rs878854605
|
0.00013
|
NM_003494.4(DYSF):c.1508C>T (p.Ser503Leu)
|
rs144931729
|
0.00013
|
NM_005529.7(HSPG2):c.2435G>A (p.Arg812Gln)
|
rs150650673
|
0.00013
|
NM_005529.7(HSPG2):c.4234G>A (p.Gly1412Ser)
|
rs146184130
|
0.00013
|
NM_005529.7(HSPG2):c.5381C>T (p.Thr1794Ile)
|
rs763773500
|
0.00013
|
NM_012232.6(CAVIN1):c.647C>T (p.Ser216Phe)
|
rs149017106
|
0.00013
|
NM_012233.3(RAB3GAP1):c.2946A>G (p.Ter982Trp)
|
rs141436429
|
0.00013
|
NM_014363.6(SACS):c.1219C>A (p.Leu407Ile)
|
rs201569239
|
0.00013
|
NM_018129.4(PNPO):c.322C>T (p.Arg108Cys)
|
rs746311862
|
0.00013
|
NM_021098.3(CACNA1H):c.6440C>T (p.Pro2147Leu)
|
rs748980218
|
0.00013
|
NM_024577.4(SH3TC2):c.2582G>A (p.Arg861Gln)
|
rs142971473
|
0.00013
|
NM_024577.4(SH3TC2):c.31C>T (p.Arg11Trp)
|
rs149762843
|
0.00013
|
NM_024596.5(MCPH1):c.2272G>A (p.Asp758Asn)
|
rs376082728
|
0.00013
|
NM_033305.3(VPS13A):c.3733A>G (p.Met1245Val)
|
rs145398548
|
0.00013
|
NM_033305.3(VPS13A):c.787G>A (p.Val263Met)
|
rs372957084
|
0.00013
|
NM_152564.5(VPS13B):c.56A>G (p.Lys19Arg)
|
rs200327756
|
0.00013
|
NM_173500.4(TTBK2):c.1897T>C (p.Tyr633His)
|
rs370977106
|
0.00013
|
NM_176787.5(PIGN):c.1110G>C (p.Gln370His)
|
rs185022348
|
0.00013
|
NM_182961.4(SYNE1):c.226-2dup
|
rs774388631
|
0.00013
|
NM_182961.4(SYNE1):c.4378G>A (p.Val1460Ile)
|
rs376463379
|
0.00013
|
NM_182961.4(SYNE1):c.8375G>A (p.Arg2792His)
|
rs139175290
|
0.00013
|
NM_182961.4(SYNE1):c.9604C>T (p.Arg3202Cys)
|
rs749550071
|
0.00013
|
NM_201384.3(PLEC):c.10000G>A (p.Gly3334Ser)
|
rs202003084
|
0.00013
|
NM_201384.3(PLEC):c.13598C>T (p.Ser4533Leu)
|
rs574054664
|
0.00013
|
NM_201384.3(PLEC):c.8033C>T (p.Thr2678Met)
|
rs201093335
|
0.00013
|
NM_201384.3(PLEC):c.9247C>T (p.Arg3083Cys)
|
rs201455467
|
0.00013
|
NM_203446.3(SYNJ1):c.3638G>A (p.Arg1213Gln)
|
rs144048853
|
0.00013
|
NM_000051.4(ATM):c.4375G>A (p.Gly1459Arg)
|
rs145667735
|
0.00012
|
NM_000085.5(CLCNKB):c.1375A>C (p.Asn459His)
|
rs765895186
|
0.00012
|
NM_000478.6(ALPL):c.914C>T (p.Thr305Met)
|
rs146908399
|
0.00012
|
NM_001099922.3(ALG13):c.2606C>T (p.Ala869Val)
|
rs138712375
|
0.00012
|
NM_001267550.2(TTN):c.14813T>C (p.Phe4938Ser)
|
rs560537668
|
0.00012
|
NM_001267550.2(TTN):c.17818T>C (p.Cys5940Arg)
|
rs374882815
|
0.00012
|
NM_001267550.2(TTN):c.4160T>C (p.Leu1387Pro)
|
rs115303497
|
0.00012
|
NM_001267550.2(TTN):c.59236G>A (p.Gly19746Ser)
|
rs372802352
|
0.00012
|
NM_001267550.2(TTN):c.60197C>T (p.Pro20066Leu)
|
rs750217838
|
0.00012
|
NM_001267550.2(TTN):c.81671A>G (p.Asn27224Ser)
|
rs368443217
|
0.00012
|
NM_001267550.2(TTN):c.91399C>T (p.Arg30467Cys)
|
rs775591945
|
0.00012
|
NM_001278116.2(L1CAM):c.3057T>G (p.Asp1019Glu)
|
rs200815347
|
0.00012
|
NM_002296.4(LBR):c.283C>T (p.Arg95Cys)
|
rs11551873
|
0.00012
|
NM_002693.3(POLG):c.1403A>G (p.Asn468Ser)
|
rs368614463
|
0.00012
|
NM_005506.4(SCARB2):c.1262C>T (p.Thr421Met)
|
rs149474488
|
0.00012
|
NM_005529.7(HSPG2):c.2023C>T (p.Arg675Trp)
|
rs373299826
|
0.00012
|
NM_005529.7(HSPG2):c.2890A>T (p.Thr964Ser)
|
rs557553229
|
0.00012
|
NM_005529.7(HSPG2):c.8903G>A (p.Arg2968Gln)
|
rs146428410
|
0.00012
|
NM_012210.4(TRIM32):c.863C>A (p.Pro288His)
|
rs367574371
|
0.00012
|
NM_014363.6(SACS):c.2294A>G (p.Tyr765Cys)
|
rs141553858
|
0.00012
|
NM_014363.6(SACS):c.5391G>C (p.Lys1797Asn)
|
rs144715822
|
0.00012
|
NM_015046.7(SETX):c.5051C>G (p.Ser1684Cys)
|
rs140116005
|
0.00012
|
NM_032119.4(ADGRV1):c.8401G>A (p.Gly2801Arg)
|
rs760510612
|
0.00012
|
NM_138691.3(TMC1):c.473G>A (p.Arg158His)
|
rs148340276
|
0.00012
|
NM_152393.4(KLHL40):c.1077C>G (p.Asn359Lys)
|
rs377564589
|
0.00012
|
NM_173500.4(TTBK2):c.1645T>G (p.Ser549Ala)
|
rs376556189
|
0.00012
|
NM_176787.5(PIGN):c.2447A>G (p.Tyr816Cys)
|
rs200750917
|
0.00012
|
NM_182961.4(SYNE1):c.11675T>C (p.Leu3892Ser)
|
rs180727534
|
0.00012
|
NM_182961.4(SYNE1):c.15377A>C (p.Glu5126Ala)
|
rs773536890
|
0.00012
|
NM_000051.4(ATM):c.1727T>C (p.Ile576Thr)
|
rs730881342
|
0.00011
|
NM_000051.4(ATM):c.5185G>C (p.Val1729Leu)
|
rs3092907
|
0.00011
|
NM_000089.4(COL1A2):c.2969C>A (p.Ala990Asp)
|
rs1014550811
|
0.00011
|
NM_000144.5(FXN):c.-9C>G
|
rs952412861
|
0.00011
|
NM_000156.6(GAMT):c.707G>C (p.Gly236Ala)
|
rs201029006
|
0.00011
|
NM_000162.5(GCK):c.363+9C>T
|
rs200985182
|
0.00011
|
NM_000231.3(SGCG):c.653T>C (p.Ile218Thr)
|
rs202045534
|
0.00011
|
NM_000352.6(ABCC8):c.1562G>A (p.Arg521Gln)
|
rs368114790
|
0.00011
|
NM_000435.3(NOTCH3):c.1774C>A (p.Arg592Ser)
|
rs764148985
|
0.00011
|
NM_000435.3(NOTCH3):c.3664T>G (p.Cys1222Gly)
|
rs199638166
|
0.00011
|
NM_000500.9(CYP21A2):c.371C>T (p.Thr124Ile)
|
rs566065375
|
0.00011
|
NM_000527.5(LDLR):c.2106G>A (p.Met702Ile)
|
rs140731590
|
0.00011
|
NM_000540.3(RYR1):c.14524G>A (p.Val4842Met)
|
rs193922879
|
0.00011
|
NM_000540.3(RYR1):c.2366G>A (p.Arg789Gln)
|
rs200069592
|
0.00011
|
NM_000545.8(HNF1A):c.1706G>A (p.Ser569Asn)
|
rs752219487
|
0.00011
|
NM_000784.4(CYP27A1):c.355C>T (p.Arg119Trp)
|
rs369294392
|
0.00011
|
NM_001009944.3(PKD1):c.7918G>T (p.Ala2640Ser)
|
rs768100426
|
0.00011
|
NM_001077365.2(POMT1):c.1793G>A (p.Arg598Gln)
|
rs202140413
|
0.00011
|
NM_001083961.2(WDR62):c.16T>G (p.Ser6Ala)
|
rs573013010
|
0.00011
|
NM_001112741.2(KCNC1):c.1657G>A (p.Glu553Lys)
|
rs531563186
|
0.00011
|
NM_001164508.2(NEB):c.23927C>T (p.Ser7976Leu)
|
rs202137113
|
0.00011
|
NM_001178015.2(SLC4A10):c.1636T>G (p.Phe546Val)
|
rs199634510
|
0.00011
|
NM_001244008.2(KIF1A):c.1181-6C>G
|
rs535005700
|
0.00011
|
NM_001267550.2(TTN):c.105940G>A (p.Ala35314Thr)
|
rs377171054
|
0.00011
|
NM_001267550.2(TTN):c.30598G>C (p.Glu10200Gln)
|
rs779015756
|
0.00011
|
NM_001267550.2(TTN):c.61484G>A (p.Arg20495His)
|
rs775137607
|
0.00011
|
NM_001267550.2(TTN):c.73334C>T (p.Thr24445Ile)
|
rs377334665
|
0.00011
|
NM_001267550.2(TTN):c.7618C>T (p.Arg2540Cys)
|
rs368574470
|
0.00011
|
NM_001267550.2(TTN):c.81794C>T (p.Thr27265Ile)
|
rs371129005
|
0.00011
|
NM_001378452.1(ITPR1):c.2299C>T (p.Arg767Cys)
|
rs377248442
|
0.00011
|
NM_001927.4(DES):c.665G>A (p.Arg222His)
|
rs367961979
|
0.00011
|
NM_002206.3(ITGA7):c.2534C>T (p.Thr845Met)
|
rs55654066
|
0.00011
|
NM_003119.4(SPG7):c.76G>T (p.Gly26Cys)
|
rs763721899
|
0.00011
|
NM_005045.4(RELN):c.1336G>C (p.Glu446Gln)
|
rs56146903
|
0.00011
|
NM_005529.7(HSPG2):c.12001G>A (p.Val4001Ile)
|
rs985624091
|
0.00011
|
NM_005529.7(HSPG2):c.8900C>T (p.Ala2967Val)
|
rs201733295
|
0.00011
|
NM_005591.4(MRE11):c.311G>C (p.Ser104Thr)
|
rs587780140
|
0.00011
|
NM_005670.4(EPM2A):c.490A>G (p.Ile164Val)
|
rs199856913
|
0.00011
|
NM_005670.4(EPM2A):c.644A>T (p.Asp215Val)
|
rs144565191
|
0.00011
|
NM_014053.4(FLVCR1):c.71C>T (p.Pro24Leu)
|
rs562153726
|
0.00011
|
NM_014363.6(SACS):c.4936C>A (p.Leu1646Met)
|
rs200810800
|
0.00011
|
NM_014363.6(SACS):c.7288G>A (p.Glu2430Lys)
|
rs201798841
|
0.00011
|
NM_014855.3(AP5Z1):c.1003C>G (p.Leu335Val)
|
rs199930373
|
0.00011
|
NM_018136.5(ASPM):c.933C>G (p.Ser311Arg)
|
rs563858170
|
0.00011
|
NM_018319.4(TDP1):c.1342C>T (p.Arg448Trp)
|
rs141725364
|
0.00011
|
NM_021008.4(DEAF1):c.959A>G (p.Lys320Arg)
|
rs148536538
|
0.00011
|
NM_022124.6(CDH23):c.1621G>A (p.Glu541Lys)
|
rs562019725
|
0.00011
|
NM_022124.6(CDH23):c.7394G>A (p.Arg2465Gln)
|
rs199903227
|
0.00011
|
NM_025137.4(SPG11):c.328A>G (p.Asn110Asp)
|
rs139498464
|
0.00011
|
NM_025137.4(SPG11):c.3558C>G (p.Asp1186Glu)
|
rs201902382
|
0.00011
|
NM_025137.4(SPG11):c.4365G>C (p.Trp1455Cys)
|
rs138103656
|
0.00011
|
NM_032119.4(ADGRV1):c.13496G>A (p.Arg4499His)
|
rs375122809
|
0.00011
|
NM_032737.4(LMNB2):c.1063G>A (p.Ala355Thr)
|
rs143717863
|
0.00011
|
NM_033337.3(CAV3):c.125A>C (p.Glu42Ala)
|
rs137901165
|
0.00011
|
NM_173354.5(SIK1):c.1088G>A (p.Arg363Gln)
|
rs528905001
|
0.00011
|
NM_182914.3(SYNE2):c.15031A>G (p.Ile5011Val)
|
rs201269146
|
0.00011
|
NM_182914.3(SYNE2):c.7301G>A (p.Arg2434Gln)
|
rs202200597
|
0.00011
|
NM_182961.4(SYNE1):c.10784A>G (p.Asn3595Ser)
|
rs148212715
|
0.00011
|
NM_182961.4(SYNE1):c.14991G>T (p.Arg4997Ser)
|
rs201306174
|
0.00011
|
NM_182961.4(SYNE1):c.18999G>C (p.Leu6333Phe)
|
rs141934037
|
0.00011
|
NM_182961.4(SYNE1):c.19972A>G (p.Lys6658Glu)
|
rs376891338
|
0.00011
|
NM_182961.4(SYNE1):c.20737C>T (p.Arg6913Cys)
|
rs142593312
|
0.00011
|
NM_182961.4(SYNE1):c.22303C>T (p.Arg7435Cys)
|
rs371642308
|
0.00011
|
NM_182961.4(SYNE1):c.8839C>G (p.Leu2947Val)
|
rs756300560
|
0.00011
|
NM_198904.4(GABRG2):c.1207A>G (p.Thr403Ala)
|
rs757868774
|
0.00011
|
NM_201384.3(PLEC):c.12647G>A (p.Arg4216His)
|
rs151106439
|
0.00011
|
NM_201384.3(PLEC):c.13450G>A (p.Gly4484Ser)
|
rs782650176
|
0.00011
|
NM_201384.3(PLEC):c.13471A>G (p.Thr4491Ala)
|
rs782756146
|
0.00011
|
NM_201384.3(PLEC):c.6841G>A (p.Ala2281Thr)
|
rs200618217
|
0.00011
|
NM_000051.4(ATM):c.7494T>C (p.Ser2498=)
|
rs34393781
|
0.00010
|
NM_000098.3(CPT2):c.1436A>T (p.Tyr479Phe)
|
rs749895856
|
0.00010
|
NM_000232.5(SGCB):c.785T>C (p.Met262Thr)
|
rs201923065
|
0.00010
|
NM_000297.4(PKD2):c.733A>C (p.Asn245His)
|
rs200543024
|
0.00010
|
NM_001146262.4(SYT14):c.61+13201G>A
|
rs914659249
|
0.00010
|
NM_001166114.2(PNPLA6):c.1357G>A (p.Ala453Thr)
|
rs761591000
|
0.00010
|
NM_001267550.2(TTN):c.3469G>A (p.Val1157Ile)
|
rs397517566
|
0.00010
|
NM_001267550.2(TTN):c.4150G>T (p.Ala1384Ser)
|
rs144609506
|
0.00010
|
NM_001267550.2(TTN):c.4228G>C (p.Val1410Leu)
|
rs576593161
|
0.00010
|
NM_001267550.2(TTN):c.65672C>T (p.Pro21891Leu)
|
rs397517662
|
0.00010
|
NM_001267550.2(TTN):c.75914C>T (p.Pro25305Leu)
|
rs142453163
|
0.00010
|
NM_001278064.2(GRM1):c.3328G>A (p.Val1110Met)
|
rs373321710
|
0.00010
|
NM_001378452.1(ITPR1):c.7583C>T (p.Thr2528Met)
|
rs373614009
|
0.00010
|
NM_002087.3(GRN):c.-203G>C
|
rs555738837
|
0.00010
|
NM_004526.4(MCM2):c.116C>T (p.Thr39Ile)
|
rs745488384
|
0.00010
|
NM_004782.4(SNAP29):c.193G>C (p.Ala65Pro)
|
rs760243787
|
0.00010
|
NM_005529.7(HSPG2):c.1844G>A (p.Arg615His)
|
rs189089389
|
0.00010
|
NM_005908.4(MANBA):c.1025A>G (p.Tyr342Cys)
|
rs771658981
|
0.00010
|
NM_013382.7(POMT2):c.1363C>T (p.Arg455Trp)
|
rs398124261
|
0.00010
|
NM_014053.4(FLVCR1):c.554G>C (p.Cys185Ser)
|
rs747064078
|
0.00010
|
NM_014141.6(CNTNAP2):c.755-5C>T
|
rs369675346
|
0.00010
|
NM_017739.4(POMGNT1):c.355G>A (p.Val119Met)
|
rs148498470
|
0.00010
|
NM_018109.4(MTPAP):c.511C>T (p.Arg171Cys)
|
rs759094245
|
0.00010
|
NM_018319.4(TDP1):c.19T>C (p.Tyr7His)
|
rs754747710
|
0.00010
|
NM_018319.4(TDP1):c.904T>C (p.Tyr302His)
|
rs375817400
|
0.00010
|
NM_018941.4(CLN8):c.53A>T (p.Tyr18Phe)
|
rs142104002
|
0.00010
|
NM_021072.4(HCN1):c.2390T>G (p.Val797Gly)
|
rs150936707
|
0.00010
|
NM_021098.3(CACNA1H):c.1309C>T (p.Arg437Trp)
|
rs377061296
|
0.00010
|
NM_021098.3(CACNA1H):c.1610G>A (p.Arg537His)
|
rs548407874
|
0.00010
|
NM_024301.5(FKRP):c.731G>A (p.Arg244His)
|
rs764641619
|
0.00010
|
NM_024577.4(SH3TC2):c.1106G>A (p.Arg369His)
|
rs551803988
|
0.00010
|
NM_024596.5(MCPH1):c.2335G>A (p.Val779Ile)
|
rs751832733
|
0.00010
|
NM_024884.3(L2HGDH):c.906G>A (p.Pro302=)
|
rs144701373
|
0.00010
|
NM_033305.3(VPS13A):c.1150G>A (p.Val384Met)
|
rs139444683
|
0.00010
|
NM_080680.3(COL11A2):c.4898G>A (p.Gly1633Asp)
|
rs143920565
|
0.00010
|
NM_133642.5(LARGE1):c.334G>A (p.Glu112Lys)
|
rs146078928
|
0.00010
|
NM_152743.4(BRAT1):c.1451C>G (p.Thr484Ser)
|
rs200248064
|
0.00010
|
NM_170707.4(LMNA):c.1202G>A (p.Arg401His)
|
rs141490569
|
0.00010
|
NM_173477.5(USH1G):c.65G>A (p.Arg22Gln)
|
rs147705262
|
0.00010
|
NM_182914.3(SYNE2):c.9745-9A>G
|
rs778028287
|
0.00010
|
NM_182961.4(SYNE1):c.10217A>C (p.Asp3406Ala)
|
rs546645393
|
0.00010
|
NM_182961.4(SYNE1):c.22915G>A (p.Ala7639Thr)
|
rs376169744
|
0.00010
|
NM_182961.4(SYNE1):c.25C>T (p.Arg9Trp)
|
rs200346529
|
0.00010
|
NM_182961.4(SYNE1):c.8686C>T (p.Arg2896Cys)
|
rs750573381
|
0.00010
|
NM_201384.3(PLEC):c.11020C>T (p.Arg3674Cys)
|
rs557562267
|
0.00010
|
NM_201384.3(PLEC):c.12863C>T (p.Thr4288Met)
|
rs782574559
|
0.00010
|
NM_201384.3(PLEC):c.2416C>T (p.Arg806Cys)
|
rs372400636
|
0.00010
|
NM_201384.3(PLEC):c.6842C>T (p.Ala2281Val)
|
rs371130595
|
0.00010
|
NM_201525.4(ADGRG1):c.1371C>T (p.Ser457=)
|
rs747812668
|
0.00010
|
NM_201525.4(ADGRG1):c.26C>T (p.Thr9Met)
|
rs200241873
|
0.00010
|
NM_213599.3(ANO5):c.994A>G (p.Met332Val)
|
rs200553437
|
0.00010
|
NM_000051.4(ATM):c.670A>G (p.Lys224Glu)
|
rs145053092
|
0.00009
|
NM_000051.4(ATM):c.6820G>A (p.Ala2274Thr)
|
rs567060474
|
0.00009
|
NM_000083.3(CLCN1):c.1205C>T (p.Ala402Val)
|
rs202119213
|
0.00009
|
NM_000266.4(NDP):c.*3C>A
|
rs372300274
|
0.00009
|
NM_000334.4(SCN4A):c.4282A>G (p.Ile1428Val)
|
rs368822028
|
0.00009
|
NM_000426.4(LAMA2):c.4436+8T>C
|
rs192650285
|
0.00009
|
NM_000435.3(NOTCH3):c.3421G>A (p.Val1141Met)
|
rs373181668
|
0.00009
|
NM_000545.8(HNF1A):c.1721G>A (p.Ser574Asn)
|
rs773895173
|
0.00009
|
NM_000702.4(ATP1A2):c.1582G>A (p.Asp528Asn)
|
rs374501280
|
0.00009
|
NM_000744.7(CHRNA4):c.1316A>C (p.Lys439Thr)
|
rs796052318
|
0.00009
|
NM_001009944.3(PKD1):c.12051G>C (p.Lys4017Asn)
|
rs151044657
|
0.00009
|
NM_001009944.3(PKD1):c.8611G>A (p.Ala2871Thr)
|
rs556305338
|
0.00009
|
NM_001110556.2(FLNA):c.7450C>T (p.Arg2484Cys)
|
rs782557713
|
0.00009
|
NM_001127222.2(CACNA1A):c.1225A>C (p.Thr409Pro)
|
rs187259531
|
0.00009
|
NM_001127222.2(CACNA1A):c.2104+6C>T
|
rs372970603
|
0.00009
|
NM_001127222.2(CACNA1A):c.6044G>A (p.Gly2015Glu)
|
rs772988279
|
0.00009
|
NM_001130438.3(SPTAN1):c.1689G>T (p.Met563Ile)
|
rs373973880
|
0.00009
|
NM_001130987.2(DYSF):c.4904A>G (p.Asn1635Ser)
|
rs772664716
|
0.00009
|
NM_001130987.2(DYSF):c.6100A>C (p.Ser2034Arg)
|
rs201890095
|
0.00009
|
NM_001199107.2(TBC1D24):c.1642G>A (p.Val548Met)
|
rs201649140
|
0.00009
|
NM_001244008.2(KIF1A):c.5332C>T (p.Arg1778Trp)
|
rs765668490
|
0.00009
|
NM_001267550.2(TTN):c.16934C>T (p.Pro5645Leu)
|
rs370889765
|
0.00009
|
NM_001267550.2(TTN):c.17806A>G (p.Ile5936Val)
|
rs72648945
|
0.00009
|
NM_001267550.2(TTN):c.41596G>A (p.Val13866Ile)
|
rs375474669
|
0.00009
|
NM_001267550.2(TTN):c.49363A>G (p.Thr16455Ala)
|
rs374543277
|
0.00009
|
NM_001267550.2(TTN):c.51896C>T (p.Pro17299Leu)
|
rs369648778
|
0.00009
|
NM_001267550.2(TTN):c.54053A>T (p.Lys18018Met)
|
rs368425364
|
0.00009
|
NM_001267550.2(TTN):c.54068G>A (p.Arg18023Gln)
|
rs727503603
|
0.00009
|
NM_001267550.2(TTN):c.57544+7dup
|
rs750881309
|
0.00009
|
NM_001267550.2(TTN):c.60146G>A (p.Arg20049His)
|
rs200455644
|
0.00009
|
NM_001267550.2(TTN):c.66086G>A (p.Arg22029His)
|
rs72646868
|
0.00009
|
NM_001267550.2(TTN):c.72674C>T (p.Pro24225Leu)
|
rs55992239
|
0.00009
|
NM_001267550.2(TTN):c.79334G>A (p.Arg26445His)
|
rs764254441
|
0.00009
|
NM_001267550.2(TTN):c.84466G>C (p.Gly28156Arg)
|
rs763560084
|
0.00009
|
NM_001267550.2(TTN):c.87280G>A (p.Glu29094Lys)
|
rs199501185
|
0.00009
|
NM_001267550.2(TTN):c.89947G>A (p.Val29983Met)
|
rs397517746
|
0.00009
|
NM_001267550.2(TTN):c.93860T>C (p.Phe31287Ser)
|
rs374887049
|
0.00009
|
NM_001278064.2(GRM1):c.1643C>T (p.Thr548Met)
|
rs201399008
|
0.00009
|
NM_001278064.2(GRM1):c.1982G>A (p.Arg661His)
|
rs200495057
|
0.00009
|
NM_001286445.3(RIPOR2):c.323G>C (p.Arg108Thr)
|
rs201842232
|
0.00009
|
NM_001370298.3(FGD4):c.1508T>C (p.Leu503Ser)
|
rs555510533
|
0.00009
|
NM_001378609.3(OTOGL):c.2791G>A (p.Val931Ile)
|
rs368000272
|
0.00009
|
NM_001458.5(FLNC):c.643G>A (p.Val215Met)
|
rs754309921
|
0.00009
|
NM_002055.5(GFAP):c.265T>C (p.Phe89Leu)
|
rs773482099
|
0.00009
|
NM_002296.4(LBR):c.837+5G>A
|
rs755762718
|
0.00009
|
NM_002693.3(POLG):c.1842C>T (p.Tyr614=)
|
rs62640033
|
0.00009
|
NM_002693.3(POLG):c.460G>A (p.Ala154Thr)
|
rs753858440
|
0.00009
|
NM_002906.4(RDX):c.602A>G (p.Tyr201Cys)
|
rs146019940
|
0.00009
|
NM_003482.4(KMT2D):c.8006T>G (p.Met2669Arg)
|
rs372520829
|
0.00009
|
NM_003673.4(TCAP):c.388C>T (p.Arg130Cys)
|
rs374886575
|
0.00009
|
NM_004393.6(DAG1):c.1307C>T (p.Thr436Met)
|
rs143573515
|
0.00009
|
NM_004820.5(CYP7B1):c.757A>G (p.Lys253Glu)
|
rs200328073
|
0.00009
|
NM_005045.4(RELN):c.4720G>A (p.Ala1574Thr)
|
rs78480723
|
0.00009
|
NM_005529.7(HSPG2):c.7198G>A (p.Ala2400Thr)
|
rs148674648
|
0.00009
|
NM_005591.4(MRE11):c.818C>G (p.Ser273Cys)
|
rs143400546
|
0.00009
|
NM_005670.4(EPM2A):c.919G>A (p.Glu307Lys)
|
rs754779408
|
0.00009
|
NM_006883.2(SHOX):c.634-1G>C
|
rs1308380568
|
0.00009
|
NM_012210.4(TRIM32):c.979A>G (p.Met327Val)
|
rs373287765
|
0.00009
|
NM_013275.6(ANKRD11):c.2213G>A (p.Arg738His)
|
rs370690185
|
0.00009
|
NM_014053.4(FLVCR1):c.1642del (p.Ser548fs)
|
rs766024598
|
0.00009
|
NM_014363.6(SACS):c.12260A>G (p.Tyr4087Cys)
|
rs373478772
|
0.00009
|
NM_014363.6(SACS):c.1463C>T (p.Pro488Leu)
|
rs375875022
|
0.00009
|
NM_014363.6(SACS):c.2996T>C (p.Ile999Thr)
|
rs371869943
|
0.00009
|
NM_014363.6(SACS):c.5744A>G (p.His1915Arg)
|
rs144822691
|
0.00009
|
NM_014855.3(AP5Z1):c.259G>A (p.Ala87Thr)
|
rs775883752
|
0.00009
|
NM_015046.7(SETX):c.2750T>C (p.Met917Thr)
|
rs376022544
|
0.00009
|
NM_015046.7(SETX):c.5852A>G (p.His1951Arg)
|
rs146593865
|
0.00009
|
NM_018100.4(EFHC1):c.574G>A (p.Val192Ile)
|
rs781665913
|
0.00009
|
NM_018109.4(MTPAP):c.1325A>G (p.Lys442Arg)
|
rs201004319
|
0.00009
|
NM_018109.4(MTPAP):c.346G>A (p.Val116Ile)
|
rs560622337
|
0.00009
|
NM_018136.5(ASPM):c.6275A>T (p.Asn2092Ile)
|
rs144574871
|
0.00009
|
NM_018319.4(TDP1):c.1249A>G (p.Lys417Glu)
|
rs138135786
|
0.00009
|
NM_018319.4(TDP1):c.1543G>A (p.Ala515Thr)
|
rs200769126
|
0.00009
|
NM_018319.4(TDP1):c.15C>T (p.Gly5=)
|
rs779666160
|
0.00009
|
NM_018319.4(TDP1):c.370G>A (p.Ala124Thr)
|
rs200906712
|
0.00009
|
NM_021072.4(HCN1):c.2008G>A (p.Ala670Thr)
|
rs373454105
|
0.00009
|
NM_021098.3(CACNA1H):c.5081T>C (p.Met1694Thr)
|
rs375015931
|
0.00009
|
NM_021098.3(CACNA1H):c.6023G>T (p.Ser2008Ile)
|
rs750277154
|
0.00009
|
NM_022464.5(SIL1):c.142A>C (p.Thr48Pro)
|
rs185697854
|
0.00009
|
NM_024577.4(SH3TC2):c.3166C>T (p.Leu1056Phe)
|
rs201805333
|
0.00009
|
NM_025137.4(SPG11):c.6950G>A (p.Gly2317Asp)
|
rs79186522
|
0.00009
|
NM_032119.4(ADGRV1):c.12128T>C (p.Ile4043Thr)
|
rs375632680
|
0.00009
|
NM_032119.4(ADGRV1):c.14373T>A (p.Ala4791=)
|
rs375062187
|
0.00009
|
NM_032737.4(LMNB2):c.1553C>T (p.Thr518Met)
|
rs368745985
|
0.00009
|
NM_152743.4(BRAT1):c.2329A>G (p.Arg777Gly)
|
rs773571503
|
0.00009
|
NM_182914.3(SYNE2):c.20590C>T (p.Leu6864Phe)
|
rs201554266
|
0.00009
|
NM_182914.3(SYNE2):c.6664C>G (p.Pro2222Ala)
|
rs201838350
|
0.00009
|
NM_182961.4(SYNE1):c.11867T>C (p.Leu3956Pro)
|
rs150913316
|
0.00009
|
NM_182961.4(SYNE1):c.13949G>A (p.Arg4650Gln)
|
rs763557674
|
0.00009
|
NM_182961.4(SYNE1):c.14018G>A (p.Arg4673Gln)
|
rs144963785
|
0.00009
|
NM_182961.4(SYNE1):c.15259C>T (p.Arg5087Trp)
|
rs767636254
|
0.00009
|
NM_182961.4(SYNE1):c.15413C>T (p.Ala5138Val)
|
rs143916942
|
0.00009
|
NM_182961.4(SYNE1):c.16211C>T (p.Ala5404Val)
|
rs140850000
|
0.00009
|
NM_182961.4(SYNE1):c.1708T>C (p.Tyr570His)
|
rs199962439
|
0.00009
|
NM_182961.4(SYNE1):c.20159A>C (p.Glu6720Ala)
|
rs367790193
|
0.00009
|
NM_182961.4(SYNE1):c.20182C>T (p.Arg6728Cys)
|
rs150063353
|
0.00009
|
NM_182961.4(SYNE1):c.21952G>A (p.Ala7318Thr)
|
rs145494541
|
0.00009
|
NM_182961.4(SYNE1):c.26272C>G (p.Leu8758Val)
|
rs139740651
|
0.00009
|
NM_182961.4(SYNE1):c.4544C>T (p.Thr1515Ile)
|
rs148785548
|
0.00009
|
NM_182961.4(SYNE1):c.9262G>A (p.Ala3088Thr)
|
rs398123005
|
0.00009
|
NM_198994.3(TGM6):c.986T>C (p.Met329Thr)
|
rs111506138
|
0.00009
|
NM_201384.3(PLEC):c.10157C>T (p.Ala3386Val)
|
rs532234200
|
0.00009
|
NM_201384.3(PLEC):c.10897C>T (p.Arg3633Cys)
|
rs200653006
|
0.00009
|
NM_201384.3(PLEC):c.10933C>T (p.Arg3645Cys)
|
rs782194334
|
0.00009
|
NM_201384.3(PLEC):c.113-6C>T
|
rs782235036
|
0.00009
|
NM_201384.3(PLEC):c.3863C>T (p.Thr1288Met)
|
rs372055596
|
0.00009
|
NM_201384.3(PLEC):c.5248C>T (p.Arg1750Trp)
|
rs782410213
|
0.00009
|
NM_201384.3(PLEC):c.6464C>T (p.Ala2155Val)
|
rs201922111
|
0.00009
|
NM_201384.3(PLEC):c.8545G>A (p.Asp2849Asn)
|
rs200360391
|
0.00009
|
NM_201384.3(PLEC):c.9167C>A (p.Ala3056Asp)
|
rs373831849
|
0.00009
|
NM_000166.6(GJB1):c.-101C>T
|
rs961829342
|
0.00008
|
NM_000231.3(SGCG):c.455C>T (p.Thr152Ile)
|
rs201329880
|
0.00008
|
NM_000334.4(SCN4A):c.4386C>G (p.Ile1462Met)
|
rs763827415
|
0.00008
|
NM_000352.6(ABCC8):c.3413C>T (p.Thr1138Met)
|
rs201351976
|
0.00008
|
NM_000352.6(ABCC8):c.375C>G (p.His125Gln)
|
rs60637558
|
0.00008
|
NM_000497.4(CYP11B1):c.538G>A (p.Ala180Thr)
|
rs140123041
|
0.00008
|
NM_000540.3(RYR1):c.4747C>T (p.Arg1583Cys)
|
rs754476250
|
0.00008
|
NM_001009944.3(PKD1):c.12089C>T (p.Thr4030Ile)
|
rs751776839
|
0.00008
|
NM_001009944.3(PKD1):c.7289G>A (p.Arg2430Gln)
|
rs62038819
|
0.00008
|
NM_001130987.2(DYSF):c.2159C>T (p.Thr720Met)
|
rs775539496
|
0.00008
|
NM_001130987.2(DYSF):c.565G>A (p.Glu189Lys)
|
rs151054827
|
0.00008
|
NM_001244008.2(KIF1A):c.3599C>T (p.Ser1200Leu)
|
rs763750448
|
0.00008
|
NM_001267550.2(TTN):c.33650C>T (p.Ala11217Val)
|
rs750612476
|
0.00008
|
NM_001267550.2(TTN):c.39709+9G>C
|
rs765647346
|
0.00008
|
NM_001267550.2(TTN):c.59365G>A (p.Asp19789Asn)
|
rs1352997069
|
0.00008
|
NM_001267550.2(TTN):c.68097G>C (p.Gln22699His)
|
rs727504520
|
0.00008
|
NM_001267550.2(TTN):c.98431C>T (p.Arg32811Cys)
|
rs371807358
|
0.00008
|
NM_001458.5(FLNC):c.6817G>A (p.Ala2273Thr)
|
rs372251350
|
0.00008
|
NM_001845.6(COL4A1):c.2447C>T (p.Pro816Leu)
|
rs781249721
|
0.00008
|
NM_001927.4(DES):c.216C>A (p.Ser72Arg)
|
rs375719734
|
0.00008
|
NM_002087.3(GRN):c.-100A>G
|
rs956983853
|
0.00008
|
NM_002241.5(KCNJ10):c.1123C>T (p.Arg375Cys)
|
rs751338154
|
0.00008
|
NM_002473.6(MYH9):c.5338C>T (p.Arg1780Trp)
|
rs527571090
|
0.00008
|
NM_002693.3(POLG):c.2642C>T (p.Pro881Leu)
|
rs375935084
|
0.00008
|
NM_002693.3(POLG):c.719C>T (p.Ser240Leu)
|
rs369175235
|
0.00008
|
NM_005422.4(TECTA):c.790+6G>A
|
rs375946958
|
0.00008
|
NM_005529.7(HSPG2):c.10079C>T (p.Ser3360Leu)
|
rs778225565
|
0.00008
|
NM_005529.7(HSPG2):c.1507+9G>A
|
rs371371189
|
0.00008
|
NM_005529.7(HSPG2):c.2987G>A (p.Arg996His)
|
rs373895855
|
0.00008
|
NM_005529.7(HSPG2):c.3551G>A (p.Gly1184Asp)
|
rs138804377
|
0.00008
|
NM_005529.7(HSPG2):c.6205G>A (p.Asp2069Asn)
|
rs751734807
|
0.00008
|
NM_005529.7(HSPG2):c.9902C>T (p.Ala3301Val)
|
rs140197256
|
0.00008
|
NM_012210.4(TRIM32):c.1012G>A (p.Ala338Thr)
|
rs141806013
|
0.00008
|
NM_013382.7(POMT2):c.1141T>C (p.Tyr381His)
|
rs369489033
|
0.00008
|
NM_014874.4(MFN2):c.160G>A (p.Ala54Thr)
|
rs61733203
|
0.00008
|
NM_015046.7(SETX):c.1374T>G (p.Phe458Leu)
|
rs201441886
|
0.00008
|
NM_015046.7(SETX):c.7979A>G (p.Asp2660Gly)
|
rs567672087
|
0.00008
|
NM_015340.4(LARS2):c.1358G>A (p.Arg453Gln)
|
rs572177274
|
0.00008
|
NM_018075.5(ANO10):c.397G>A (p.Glu133Lys)
|
rs571983239
|
0.00008
|
NM_020247.5(COQ8A):c.11T>A (p.Ile4Lys)
|
rs202075418
|
0.00008
|
NM_020247.5(COQ8A):c.794G>A (p.Arg265His)
|
rs199696414
|
0.00008
|
NM_022464.5(SIL1):c.1022C>T (p.Thr341Met)
|
rs372399027
|
0.00008
|
NM_024596.5(MCPH1):c.2395C>T (p.Pro799Ser)
|
rs369127299
|
0.00008
|
NM_032119.4(ADGRV1):c.15113T>C (p.Ile5038Thr)
|
rs192561791
|
0.00008
|
NM_153026.3(PRICKLE1):c.1145G>A (p.Arg382Lys)
|
rs748636455
|
0.00008
|
NM_170707.4(LMNA):c.1862C>T (p.Thr621Met)
|
rs765594825
|
0.00008
|
NM_181882.3(PRX):c.4017C>A (p.Ser1339Arg)
|
rs758057597
|
0.00008
|
NM_182914.3(SYNE2):c.1218G>A (p.Met406Ile)
|
rs768665395
|
0.00008
|
NM_182914.3(SYNE2):c.12437A>G (p.His4146Arg)
|
rs375035375
|
0.00008
|
NM_182914.3(SYNE2):c.3889A>G (p.Met1297Val)
|
rs368642506
|
0.00008
|
NM_182961.4(SYNE1):c.10312G>A (p.Glu3438Lys)
|
rs550171329
|
0.00008
|
NM_182961.4(SYNE1):c.16552C>T (p.Arg5518Trp)
|
rs377410590
|
0.00008
|
NM_182961.4(SYNE1):c.18345G>C (p.Glu6115Asp)
|
rs749005373
|
0.00008
|
NM_182961.4(SYNE1):c.24635G>A (p.Arg8212His)
|
rs766462111
|
0.00008
|
NM_182961.4(SYNE1):c.2528G>A (p.Arg843His)
|
rs191723029
|
0.00008
|
NM_182961.4(SYNE1):c.25922G>A (p.Arg8641Gln)
|
rs774776856
|
0.00008
|
NM_182961.4(SYNE1):c.9719T>C (p.Leu3240Pro)
|
rs56308121
|
0.00008
|
NM_198578.4(LRRK2):c.2771G>A (p.Arg924His)
|
rs200795874
|
0.00008
|
NM_201384.3(PLEC):c.9749C>T (p.Thr3250Met)
|
rs201349099
|
0.00008
|
NM_000051.4(ATM):c.2149C>T (p.Arg717Trp)
|
rs147515380
|
0.00007
|
NM_000051.4(ATM):c.290T>C (p.Ile97Thr)
|
rs786203011
|
0.00007
|
NM_000142.5(FGFR3):c.1879G>A (p.Glu627Lys)
|
rs200849753
|
0.00007
|
NM_000170.3(GLDC):c.578A>G (p.Asn193Ser)
|
rs555919940
|
0.00007
|
NM_000334.4(SCN4A):c.1139G>A (p.Arg380Gln)
|
rs374446143
|
0.00007
|
NM_000370.3(TTPA):c.265C>T (p.Pro89Ser)
|
rs374272548
|
0.00007
|
NM_000388.4(CASR):c.848T>C (p.Ile283Thr)
|
rs142745096
|
0.00007
|
NM_000435.3(NOTCH3):c.1505C>T (p.Ser502Phe)
|
rs778571943
|
0.00007
|
NM_000435.3(NOTCH3):c.269G>A (p.Arg90His)
|
rs754726425
|
0.00007
|
NM_001008212.2(OPTN):c.941A>T (p.Gln314Leu)
|
rs142812715
|
0.00007
|
NM_001079802.2(FKTN):c.1212T>G (p.Phe404Leu)
|
rs776724595
|
0.00007
|
NM_001130987.2(DYSF):c.1618T>C (p.Tyr540His)
|
rs777489323
|
0.00007
|
NM_001130987.2(DYSF):c.4359G>A (p.Ala1453=)
|
rs371816429
|
0.00007
|
NM_001195263.2(PDZD7):c.1940C>T (p.Pro647Leu)
|
rs1013083731
|
0.00007
|
NM_001242896.3(DEPDC5):c.130C>G (p.Pro44Ala)
|
rs756878843
|
0.00007
|
NM_001267550.2(TTN):c.53807G>A (p.Arg17936His)
|
rs727503604
|
0.00007
|
NM_001267550.2(TTN):c.72226T>G (p.Leu24076Val)
|
rs202098308
|
0.00007
|
NM_001267550.2(TTN):c.86623G>A (p.Ala28875Thr)
|
rs762472705
|
0.00007
|
NM_002641.4(PIGA):c.61A>G (p.Ser21Gly)
|
rs375401655
|
0.00007
|
NM_002693.3(POLG):c.2051A>G (p.Asn684Ser)
|
rs202244328
|
0.00007
|
NM_003068.5(SNAI2):c.341A>C (p.Gln114Pro)
|
rs200288712
|
0.00007
|
NM_004006.3(DMD):c.9580A>C (p.Ile3194Leu)
|
rs181517869
|
0.00007
|
NM_004977.3(KCNC3):c.1706C>T (p.Pro569Leu)
|
rs558106649
|
0.00007
|
NM_005529.7(HSPG2):c.1855C>T (p.Arg619Cys)
|
rs754060584
|
0.00007
|
NM_005529.7(HSPG2):c.3148G>A (p.Gly1050Ser)
|
rs779672692
|
0.00007
|
NM_005591.4(MRE11):c.482A>G (p.Lys161Arg)
|
rs587782294
|
0.00007
|
NM_006946.4(SPTBN2):c.1504A>G (p.Ile502Val)
|
rs751351000
|
0.00007
|
NM_006946.4(SPTBN2):c.2209G>A (p.Glu737Lys)
|
rs766618779
|
0.00007
|
NM_006946.4(SPTBN2):c.2816+5G>A
|
rs369265033
|
0.00007
|
NM_006946.4(SPTBN2):c.7051C>T (p.Arg2351Trp)
|
rs753896989
|
0.00007
|
NM_014363.6(SACS):c.11066C>A (p.Pro3689Gln)
|
rs148925505
|
0.00007
|
NM_014363.6(SACS):c.6178G>C (p.Val2060Leu)
|
rs373226693
|
0.00007
|
NM_014363.6(SACS):c.6266C>T (p.Ser2089Leu)
|
rs370095300
|
0.00007
|
NM_014846.4(WASHC5):c.1522-10T>A
|
rs200283018
|
0.00007
|
NM_015046.7(SETX):c.3023C>G (p.Thr1008Ser)
|
rs372021275
|
0.00007
|
NM_016156.6(MTMR2):c.894A>T (p.Glu298Asp)
|
rs200898934
|
0.00007
|
NM_020247.5(COQ8A):c.1612C>T (p.Arg538Trp)
|
rs201331131
|
0.00007
|
NM_021625.5(TRPV4):c.143C>T (p.Ser48Leu)
|
rs756185743
|
0.00007
|
NM_021942.6(TRAPPC11):c.3211G>A (p.Gly1071Ser)
|
rs141588557
|
0.00007
|
NM_022124.6(CDH23):c.2953G>C (p.Val985Leu)
|
rs374964318
|
0.00007
|
NM_022124.6(CDH23):c.310G>A (p.Glu104Lys)
|
rs772284876
|
0.00007
|
NM_024577.4(SH3TC2):c.517C>A (p.Leu173Met)
|
rs147633804
|
0.00007
|
NM_030962.4(SBF2):c.4257+6C>G
|
rs370274486
|
0.00007
|
NM_152743.4(BRAT1):c.1484C>T (p.Pro495Leu)
|
rs577945739
|
0.00007
|
NM_170707.4(LMNA):c.1243G>A (p.Val415Ile)
|
rs267607606
|
0.00007
|
NM_182914.3(SYNE2):c.10457A>G (p.Asp3486Gly)
|
rs768214736
|
0.00007
|
NM_182961.4(SYNE1):c.26330C>G (p.Ser8777Cys)
|
rs377446250
|
0.00007
|
NM_182961.4(SYNE1):c.6254T>C (p.Ile2085Thr)
|
rs577979265
|
0.00007
|
NM_182961.4(SYNE1):c.952G>A (p.Val318Ile)
|
rs373619878
|
0.00007
|
NM_198576.4(AGRN):c.4138C>T (p.Arg1380Cys)
|
rs747790893
|
0.00007
|
NM_198994.3(TGM6):c.2059G>C (p.Val687Leu)
|
rs374655115
|
0.00007
|
NM_201384.3(PLEC):c.4075C>T (p.Arg1359Cys)
|
rs541323979
|
0.00007
|
NM_213599.3(ANO5):c.570A>G (p.Gln190=)
|
rs144159801
|
0.00007
|
NM_000051.4(ATM):c.2275A>G (p.Ser759Gly)
|
rs148705269
|
0.00006
|
NM_000051.4(ATM):c.4792C>A (p.Leu1598Ile)
|
rs375190373
|
0.00006
|
NM_000051.4(ATM):c.610G>A (p.Gly204Arg)
|
rs147915571
|
0.00006
|
NM_000051.4(ATM):c.8495G>A (p.Arg2832His)
|
rs529296539
|
0.00006
|
NM_000069.3(CACNA1S):c.1385G>A (p.Arg462His)
|
rs146696298
|
0.00006
|
NM_000088.4(COL1A1):c.649A>T (p.Met217Leu)
|
rs763409550
|
0.00006
|
NM_000091.5(COL4A3):c.4649T>G (p.Val1550Gly)
|
rs200655479
|
0.00006
|
NM_000092.5(COL4A4):c.2170C>T (p.Arg724Cys)
|
rs754398956
|
0.00006
|
NM_000100.4(CSTB):c.29A>C (p.Gln10Pro)
|
rs569851503
|
0.00006
|
NM_000110.4(DPYD):c.1180C>T (p.Arg394Trp)
|
rs140602333
|
0.00006
|
NM_000110.4(DPYD):c.1990G>T (p.Ala664Ser)
|
rs138545885
|
0.00006
|
NM_000156.6(GAMT):c.670G>A (p.Ala224Thr)
|
rs141471799
|
0.00006
|
NM_000334.4(SCN4A):c.365G>A (p.Arg122His)
|
rs374529559
|
0.00006
|
NM_000335.5(SCN5A):c.3343C>T (p.Arg1115Trp)
|
rs199473196
|
0.00006
|
NM_000335.5(SCN5A):c.393-5C>A
|
rs368678204
|
0.00006
|
NM_000338.3(SLC12A1):c.262G>A (p.Ala88Thr)
|
rs369639692
|
0.00006
|
NM_000352.6(ABCC8):c.4733G>A (p.Arg1578His)
|
rs143557848
|
0.00006
|
NM_000352.6(ABCC8):c.647G>A (p.Arg216His)
|
rs199702708
|
0.00006
|
NM_000370.3(TTPA):c.355A>G (p.Ile119Val)
|
rs766200402
|
0.00006
|
NM_000370.3(TTPA):c.75G>C (p.Gln25His)
|
rs751638180
|
0.00006
|
NM_000426.4(LAMA2):c.479A>T (p.Asp160Val)
|
rs147398243
|
0.00006
|
NM_000435.3(NOTCH3):c.1416G>T (p.Glu472Asp)
|
rs1416152273
|
0.00006
|
NM_000435.3(NOTCH3):c.5010G>A (p.Glu1670=)
|
rs937296497
|
0.00006
|
NM_000435.3(NOTCH3):c.5467G>A (p.Asp1823Asn)
|
rs763602970
|
0.00006
|
NM_000435.3(NOTCH3):c.6164C>T (p.Ala2055Val)
|
rs769066713
|
0.00006
|
NM_000435.3(NOTCH3):c.754G>A (p.Val252Met)
|
rs115836330
|
0.00006
|
NM_000484.4(APP):c.2137G>A (p.Ala713Thr)
|
rs63750066
|
0.00006
|
NM_000497.4(CYP11B1):c.799+5G>C
|
rs193922542
|
0.00006
|
NM_000540.3(RYR1):c.14203C>T (p.Arg4735Trp)
|
rs766887342
|
0.00006
|
NM_000540.3(RYR1):c.3619G>A (p.Val1207Met)
|
rs760235443
|
0.00006
|
NM_000545.8(HNF1A):c.1405C>T (p.His469Tyr)
|
rs201811844
|
0.00006
|
NM_000744.7(CHRNA4):c.461C>T (p.Pro154Leu)
|
rs121912244
|
0.00006
|
NM_001005361.3(DNM2):c.535A>G (p.Met179Val)
|
rs748887276
|
0.00006
|
NM_001009944.3(PKD1):c.10429C>A (p.Leu3477Ile)
|
rs62621452
|
0.00006
|
NM_001009944.3(PKD1):c.2416G>A (p.Val806Met)
|
rs1219493715
|
0.00006
|
NM_001009944.3(PKD1):c.4916G>C (p.Gly1639Ala)
|
rs1178172751
|
0.00006
|
NM_001009944.3(PKD1):c.8186C>T (p.Ser2729Leu)
|
rs371541730
|
0.00006
|
NM_001009944.3(PKD1):c.8428G>A (p.Glu2810Lys)
|
rs777608163
|
0.00006
|
NM_001042492.3(NF1):c.4526G>A (p.Arg1509His)
|
rs546073780
|
0.00006
|
NM_001077365.2(POMT1):c.847A>C (p.Ser283Arg)
|
rs747506380
|
0.00006
|
NM_001127222.2(CACNA1A):c.2501A>C (p.Asn834Thr)
|
rs201666606
|
0.00006
|
NM_001127222.2(CACNA1A):c.2812G>C (p.Gly938Arg)
|
rs771423362
|
0.00006
|
NM_001127222.2(CACNA1A):c.3649A>G (p.Met1217Val)
|
rs372017604
|
0.00006
|
NM_001127222.2(CACNA1A):c.5740G>A (p.Asp1914Asn)
|
rs371957992
|
0.00006
|
NM_001127222.2(CACNA1A):c.6190-3C>A
|
rs368480650
|
0.00006
|
NM_001127222.2(CACNA1A):c.6266G>A (p.Arg2089Gln)
|
rs1033214914
|
0.00006
|
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys)
|
rs121908235
|
0.00006
|
NM_001130987.2(DYSF):c.1774G>T (p.Asp592Tyr)
|
rs376932915
|
0.00006
|
NM_001166114.2(PNPLA6):c.1228G>A (p.Val410Ile)
|
rs369465821
|
0.00006
|
NM_001195248.2(APTX):c.191A>G (p.Asn64Ser)
|
rs142032370
|
0.00006
|
NM_001242896.3(DEPDC5):c.3085A>G (p.Thr1029Ala)
|
rs537257402
|
0.00006
|
NM_001244008.2(KIF1A):c.4955G>A (p.Arg1652Gln)
|
rs376658420
|
0.00006
|
NM_001256545.2(MEGF10):c.2347C>T (p.Arg783Trp)
|
rs754251946
|
0.00006
|
NM_001267550.2(TTN):c.104125C>T (p.Arg34709Cys)
|
rs530959653
|
0.00006
|
NM_001267550.2(TTN):c.104222C>T (p.Thr34741Ile)
|
rs727505306
|
0.00006
|
NM_001267550.2(TTN):c.12821G>A (p.Ser4274Asn)
|
rs200348414
|
0.00006
|
NM_001267550.2(TTN):c.14999G>A (p.Arg5000His)
|
rs377062348
|
0.00006
|
NM_001267550.2(TTN):c.49801G>T (p.Val16601Leu)
|
rs773271774
|
0.00006
|
NM_001267550.2(TTN):c.49937G>A (p.Arg16646Gln)
|
rs746384579
|
0.00006
|
NM_001267550.2(TTN):c.52139A>T (p.Asp17380Val)
|
rs373305248
|
0.00006
|
NM_001267550.2(TTN):c.60343G>A (p.Asp20115Asn)
|
rs369893671
|
0.00006
|
NM_001267550.2(TTN):c.61696G>A (p.Val20566Ile)
|
rs764777213
|
0.00006
|
NM_001267550.2(TTN):c.6608T>C (p.Val2203Ala)
|
rs746433556
|
0.00006
|
NM_001267550.2(TTN):c.70975G>A (p.Gly23659Ser)
|
rs376256345
|
0.00006
|
NM_001267550.2(TTN):c.7328A>G (p.Tyr2443Cys)
|
rs369407160
|
0.00006
|
NM_001267550.2(TTN):c.80720C>A (p.Pro26907Gln)
|
rs375693686
|
0.00006
|
NM_001267550.2(TTN):c.85115G>A (p.Gly28372Glu)
|
rs190721759
|
0.00006
|
NM_001267550.2(TTN):c.85316G>A (p.Arg28439Gln)
|
rs764437671
|
0.00006
|
NM_001267550.2(TTN):c.91325A>C (p.Lys30442Thr)
|
rs370086155
|
0.00006
|
NM_001267550.2(TTN):c.947C>A (p.Ser316Tyr)
|
rs1357433834
|
0.00006
|
NM_001278064.2(GRM1):c.827A>C (p.Lys276Thr)
|
rs192397712
|
0.00006
|
NM_001330078.2(NRXN1):c.1688T>C (p.Ile563Thr)
|
rs201837579
|
0.00006
|
NM_001347702.2(SYNE1):c.1480C>T (p.Leu494Phe)
|
rs200854314
|
0.00006
|
NM_001347721.2(DYRK1A):c.1762G>A (p.Ala588Thr)
|
rs200808105
|
0.00006
|
NM_001365999.1(SZT2):c.8216C>T (p.Pro2739Leu)
|
rs774032264
|
0.00006
|
NM_001378452.1(ITPR1):c.2188G>A (p.Val730Ile)
|
rs370701686
|
0.00006
|
NM_001378452.1(ITPR1):c.7630G>A (p.Val2544Ile)
|
rs371726673
|
0.00006
|
NM_001384140.1(PCDH15):c.3807-6T>G
|
rs727504791
|
0.00006
|
NM_002047.4(GARS1):c.1852G>A (p.Val618Ile)
|
rs369894731
|
0.00006
|
NM_002292.4(LAMB2):c.2983A>G (p.Met995Val)
|
rs773681564
|
0.00006
|
NM_002693.3(POLG):c.1097G>C (p.Gly366Ala)
|
rs757315161
|
0.00006
|
NM_002693.3(POLG):c.154C>A (p.Gln52Lys)
|
rs376683989
|
0.00006
|
NM_002693.3(POLG):c.1591G>A (p.Gly531Ser)
|
rs796052904
|
0.00006
|
NM_002693.3(POLG):c.2218A>G (p.Asn740Asp)
|
rs78347903
|
0.00006
|
NM_002693.3(POLG):c.3216C>G (p.Thr1072=)
|
rs146936870
|
0.00006
|
NM_002693.3(POLG):c.3701G>A (p.Arg1234Gln)
|
rs750792237
|
0.00006
|
NM_003900.5(SQSTM1):c.625C>T (p.Arg209Cys)
|
rs1478180381
|
0.00006
|
NM_003907.3(EIF2B5):c.37G>A (p.Val13Ile)
|
rs577738220
|
0.00006
|
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp)
|
rs376898963
|
0.00006
|
NM_005529.7(HSPG2):c.2896G>A (p.Glu966Lys)
|
rs142651007
|
0.00006
|
NM_005529.7(HSPG2):c.4391G>A (p.Arg1464Gln)
|
rs757410321
|
0.00006
|
NM_005529.7(HSPG2):c.8270A>G (p.Gln2757Arg)
|
rs375390882
|
0.00006
|
NM_005591.4(MRE11):c.274G>A (p.Glu92Lys)
|
rs587780139
|
0.00006
|
NM_005591.4(MRE11):c.391G>A (p.Asp131Asn)
|
rs368403414
|
0.00006
|
NM_005619.5(RTN2):c.1618T>C (p.Ser540Pro)
|
rs779865623
|
0.00006
|
NM_005660.3(SLC35A2):c.1039G>A (p.Ala347Thr)
|
rs781948153
|
0.00006
|
NM_006922.4(SCN3A):c.5200G>C (p.Gly1734Arg)
|
rs577933870
|
0.00006
|
NM_006946.4(SPTBN2):c.1336C>T (p.Arg446Cys)
|
rs147422843
|
0.00006
|
NM_006946.4(SPTBN2):c.5593C>T (p.Arg1865Trp)
|
rs755595060
|
0.00006
|
NM_007254.4(PNKP):c.1492A>C (p.Ile498Leu)
|
rs753116883
|
0.00006
|
NM_012210.4(TRIM32):c.1688G>A (p.Arg563His)
|
rs138056275
|
0.00006
|
NM_012463.4(ATP6V0A2):c.1048G>A (p.Gly350Ser)
|
rs768141782
|
0.00006
|
NM_013382.7(POMT2):c.1485-3C>T
|
rs754892193
|
0.00006
|
NM_014053.4(FLVCR1):c.1022A>G (p.Tyr341Cys)
|
rs200151282
|
0.00006
|
NM_014053.4(FLVCR1):c.944C>G (p.Pro315Arg)
|
rs572881055
|
0.00006
|
NM_014141.6(CNTNAP2):c.3112G>A (p.Asp1038Asn)
|
rs144003410
|
0.00006
|
NM_014159.7(SETD2):c.1343G>A (p.Arg448Gln)
|
rs564020755
|
0.00006
|
NM_014363.6(SACS):c.10954C>A (p.Pro3652Thr)
|
rs201505036
|
0.00006
|
NM_014363.6(SACS):c.11717C>T (p.Ala3906Val)
|
rs375961779
|
0.00006
|
NM_014363.6(SACS):c.12190C>A (p.Pro4064Thr)
|
rs200707453
|
0.00006
|
NM_014363.6(SACS):c.2024A>G (p.Asn675Ser)
|
rs146395198
|
0.00006
|
NM_014363.6(SACS):c.2776A>G (p.Ile926Val)
|
rs144362131
|
0.00006
|
NM_014363.6(SACS):c.432G>T (p.Trp144Cys)
|
rs368570790
|
0.00006
|
NM_014363.6(SACS):c.6364A>G (p.Lys2122Glu)
|
rs755723511
|
0.00006
|
NM_014795.4(ZEB2):c.2855G>C (p.Arg952Thr)
|
rs151256895
|
0.00006
|
NM_014855.3(AP5Z1):c.1132G>A (p.Gly378Arg)
|
rs777093701
|
0.00006
|
NM_014855.3(AP5Z1):c.1360C>T (p.Leu454Phe)
|
rs371402624
|
0.00006
|
NM_014855.3(AP5Z1):c.2221G>A (p.Glu741Lys)
|
rs199745141
|
0.00006
|
NM_015046.7(SETX):c.5537G>A (p.Arg1846His)
|
rs373571937
|
0.00006
|
NM_015046.7(SETX):c.7660T>A (p.Phe2554Ile)
|
rs368269464
|
0.00006
|
NM_015046.7(SETX):c.7874C>T (p.Pro2625Leu)
|
rs553413088
|
0.00006
|
NM_016239.4(MYO15A):c.4561G>C (p.Glu1521Gln)
|
rs769189017
|
0.00006
|
NM_016341.4(PLCE1):c.3518C>T (p.Ser1173Phe)
|
rs180753337
|
0.00006
|
NM_017882.3(CLN6):c.271G>A (p.Val91Ile)
|
rs140519790
|
0.00006
|
NM_020247.5(COQ8A):c.1198C>T (p.Arg400Trp)
|
rs541836846
|
0.00006
|
NM_020247.5(COQ8A):c.137C>T (p.Thr46Met)
|
rs187123516
|
0.00006
|
NM_020247.5(COQ8A):c.1645G>A (p.Gly549Ser)
|
rs119468009
|
0.00006
|
NM_020919.4(ALS2):c.2632C>T (p.Leu878Phe)
|
rs568716023
|
0.00006
|
NM_020975.6(RET):c.3005G>A (p.Ser1002Asn)
|
rs763489828
|
0.00006
|
NM_021098.3(CACNA1H):c.2215C>T (p.Arg739Cys)
|
rs371167728
|
0.00006
|
NM_021098.3(CACNA1H):c.4426G>A (p.Ala1476Thr)
|
rs374297889
|
0.00006
|
NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr)
|
rs370814108
|
0.00006
|
NM_024301.5(FKRP):c.562G>A (p.Ala188Thr)
|
rs746905689
|
0.00006
|
NM_024411.5(PDYN):c.135C>G (p.Cys45Trp)
|
rs776557797
|
0.00006
|
NM_024577.4(SH3TC2):c.2492G>A (p.Ser831Asn)
|
rs375034766
|
0.00006
|
NM_024577.4(SH3TC2):c.3835C>T (p.Arg1279Trp)
|
rs536334280
|
0.00006
|
NM_024589.3(ROGDI):c.584A>G (p.Asn195Ser)
|
rs201116642
|
0.00006
|
NM_025137.4(SPG11):c.316G>A (p.Ala106Thr)
|
rs201842512
|
0.00006
|
NM_030962.4(SBF2):c.3812G>A (p.Arg1271His)
|
rs201249004
|
0.00006
|
NM_032409.3(PINK1):c.1382T>G (p.Leu461Arg)
|
rs144440543
|
0.00006
|
NM_033305.3(VPS13A):c.7658A>T (p.Asp2553Val)
|
rs758912053
|
0.00006
|
NM_133433.4(NIPBL):c.7418T>C (p.Val2473Ala)
|
rs185745349
|
0.00006
|
NM_133642.5(LARGE1):c.941A>T (p.Gln314Leu)
|
rs149747266
|
0.00006
|
NM_152564.5(VPS13B):c.2617A>G (p.Met873Val)
|
rs745651556
|
0.00006
|
NM_173500.4(TTBK2):c.3443G>A (p.Arg1148His)
|
rs199594294
|
0.00006
|
NM_175875.5(SIX5):c.1687C>T (p.Leu563Phe)
|
rs781343581
|
0.00006
|
NM_177924.5(ASAH1):c.997C>G (p.Arg333Gly)
|
rs543697946
|
0.00006
|
NM_181882.3(PRX):c.1100C>A (p.Ala367Asp)
|
rs143400291
|
0.00006
|
NM_181882.3(PRX):c.3886G>C (p.Gly1296Arg)
|
rs769014032
|
0.00006
|
NM_181882.3(PRX):c.839C>T (p.Pro280Leu)
|
rs557355077
|
0.00006
|
NM_182914.3(SYNE2):c.12614C>T (p.Thr4205Ile)
|
rs376207235
|
0.00006
|
NM_182914.3(SYNE2):c.17591A>G (p.Asn5864Ser)
|
rs566886977
|
0.00006
|
NM_182914.3(SYNE2):c.7664C>T (p.Thr2555Met)
|
rs201297144
|
0.00006
|
NM_182961.4(SYNE1):c.10160C>G (p.Ala3387Gly)
|
rs201621810
|
0.00006
|
NM_182961.4(SYNE1):c.11475C>G (p.Cys3825Trp)
|
rs146919170
|
0.00006
|
NM_182961.4(SYNE1):c.11999C>A (p.Ala4000Glu)
|
rs375752705
|
0.00006
|
NM_182961.4(SYNE1):c.13631A>C (p.Asp4544Ala)
|
rs149081144
|
0.00006
|
NM_182961.4(SYNE1):c.1665A>C (p.Gln555His)
|
rs561648669
|
0.00006
|
NM_182961.4(SYNE1):c.22016C>A (p.Ala7339Asp)
|
rs146907132
|
0.00006
|
NM_182961.4(SYNE1):c.22219G>A (p.Ala7407Thr)
|
rs575637225
|
0.00006
|
NM_182961.4(SYNE1):c.23983G>A (p.Glu7995Lys)
|
rs781626097
|
0.00006
|
NM_182961.4(SYNE1):c.25952G>A (p.Arg8651His)
|
rs144888773
|
0.00006
|
NM_182961.4(SYNE1):c.2893-5G>A
|
rs370196519
|
0.00006
|
NM_182961.4(SYNE1):c.310-468G>A
|
rs143635963
|
0.00006
|
NM_182961.4(SYNE1):c.3436C>G (p.Gln1146Glu)
|
rs760256766
|
0.00006
|
NM_182961.4(SYNE1):c.3944G>C (p.Arg1315Pro)
|
rs1043288099
|
0.00006
|
NM_182961.4(SYNE1):c.4562G>A (p.Arg1521Gln)
|
rs149606474
|
0.00006
|
NM_182961.4(SYNE1):c.5049G>T (p.Met1683Ile)
|
rs755866233
|
0.00006
|
NM_182961.4(SYNE1):c.5228A>G (p.Asp1743Gly)
|
rs555731770
|
0.00006
|
NM_182961.4(SYNE1):c.5392G>T (p.Asp1798Tyr)
|
rs772266857
|
0.00006
|
NM_182961.4(SYNE1):c.5441A>G (p.Glu1814Gly)
|
rs557081125
|
0.00006
|
NM_182961.4(SYNE1):c.6094G>A (p.Glu2032Lys)
|
rs367594476
|
0.00006
|
NM_198994.3(TGM6):c.1303G>A (p.Val435Met)
|
rs769042038
|
0.00006
|
NM_201384.3(PLEC):c.4363C>T (p.Arg1455Cys)
|
rs782436596
|
0.00006
|
NM_201384.3(PLEC):c.5092C>T (p.Arg1698Trp)
|
rs201386659
|
0.00006
|
NM_201384.3(PLEC):c.7672C>T (p.Arg2558Trp)
|
rs961518883
|
0.00006
|
NM_201384.3(PLEC):c.7829C>T (p.Ala2610Val)
|
rs782085255
|
0.00006
|
NM_201384.3(PLEC):c.9835G>C (p.Val3279Leu)
|
rs200407723
|
0.00006
|
NM_201525.4(ADGRG1):c.1780C>T (p.Arg594Cys)
|
rs371152613
|
0.00006
|
NM_000023.4(SGCA):c.575G>A (p.Arg192Gln)
|
rs200945974
|
0.00005
|
NM_000051.4(ATM):c.2476A>C (p.Ile826Leu)
|
rs587782397
|
0.00005
|
NM_000051.4(ATM):c.2770C>T (p.Arg924Trp)
|
rs55723361
|
0.00005
|
NM_000051.4(ATM):c.4724G>A (p.Arg1575His)
|
rs550552791
|
0.00005
|
NM_000051.4(ATM):c.659C>T (p.Ala220Val)
|
rs145355104
|
0.00005
|
NM_000051.4(ATM):c.9031A>G (p.Met3011Val)
|
rs372795527
|
0.00005
|
NM_000070.3(CAPN3):c.835T>C (p.Ser279Pro)
|
rs755930521
|
0.00005
|
NM_000080.4(CHRNE):c.1168C>T (p.Arg390Trp)
|
rs140763858
|
0.00005
|
NM_000209.4(PDX1):c.694G>A (p.Gly232Ser)
|
rs367625089
|
0.00005
|
NM_000257.4(MYH7):c.4294G>A (p.Val1432Ile)
|
rs144200285
|
0.00005
|
NM_000370.3(TTPA):c.745G>A (p.Glu249Lys)
|
rs1041651534
|
0.00005
|
NM_000391.4(TPP1):c.1490G>A (p.Arg497His)
|
rs549928656
|
0.00005
|
NM_000426.4(LAMA2):c.1550A>T (p.Glu517Val)
|
rs372358704
|
0.00005
|
NM_000435.3(NOTCH3):c.1631G>A (p.Arg544His)
|
rs751284168
|
0.00005
|
NM_000435.3(NOTCH3):c.351C>T (p.Cys117=)
|
rs200881673
|
0.00005
|
NM_000435.3(NOTCH3):c.451C>G (p.Gln151Glu)
|
rs371491165
|
0.00005
|
NM_000435.3(NOTCH3):c.6521G>A (p.Arg2174Gln)
|
rs1337328035
|
0.00005
|
NM_000435.3(NOTCH3):c.743G>C (p.Gly248Ala)
|
rs141402160
|
0.00005
|
NM_000458.4(HNF1B):c.1654-4G>A
|
rs193922485
|
0.00005
|
NM_000702.4(ATP1A2):c.1461+5G>A
|
rs199906945
|
0.00005
|
NM_000726.5(CACNB4):c.1418G>A (p.Arg473His)
|
rs368111233
|
0.00005
|
NM_000726.5(CACNB4):c.148-90306C>T
|
rs547439915
|
0.00005
|
NM_000742.4(CHRNA2):c.1464G>A (p.Ser488=)
|
rs796052305
|
0.00005
|
NM_001009944.3(PKD1):c.9820C>T (p.Arg3274Cys)
|
rs531854741
|
0.00005
|
NM_001039141.3(TRIOBP):c.4298C>T (p.Pro1433Leu)
|
rs761830009
|
0.00005
|
NM_001042492.3(NF1):c.1894T>A (p.Cys632Ser)
|
rs370789267
|
0.00005
|
NM_001112741.2(KCNC1):c.1426G>A (p.Val476Ile)
|
rs146311746
|
0.00005
|
NM_001130987.2(DYSF):c.132C>A (p.Asn44Lys)
|
rs772240035
|
0.00005
|
NM_001164508.2(NEB):c.2683G>A (p.Ala895Thr)
|
rs753428817
|
0.00005
|
NM_001165963.4(SCN1A):c.3060C>A (p.His1020Gln)
|
rs150154265
|
0.00005
|
NM_001166114.2(PNPLA6):c.4003C>T (p.Pro1335Ser)
|
rs151264767
|
0.00005
|
NM_001267550.2(TTN):c.106388G>C (p.Gly35463Ala)
|
rs373369136
|
0.00005
|
NM_001267550.2(TTN):c.10654G>C (p.Ala3552Pro)
|
rs774004409
|
0.00005
|
NM_001267550.2(TTN):c.15148G>T (p.Gly5050Trp)
|
rs908686601
|
0.00005
|
NM_001267550.2(TTN):c.22922C>T (p.Ser7641Leu)
|
rs369508943
|
0.00005
|
NM_001267550.2(TTN):c.54167G>A (p.Arg18056Gln)
|
rs376932266
|
0.00005
|
NM_001267550.2(TTN):c.57593A>G (p.Asn19198Ser)
|
rs199787097
|
0.00005
|
NM_001267550.2(TTN):c.58017G>C (p.Leu19339Phe)
|
rs368025965
|
0.00005
|
NM_001267550.2(TTN):c.59813C>T (p.Ala19938Val)
|
rs1187337182
|
0.00005
|
NM_001267550.2(TTN):c.61289G>A (p.Cys20430Tyr)
|
rs527704660
|
0.00005
|
NM_001267550.2(TTN):c.77348G>A (p.Arg25783Gln)
|
rs777428147
|
0.00005
|
NM_001267550.2(TTN):c.89760A>C (p.Glu29920Asp)
|
rs747181293
|
0.00005
|
NM_001267550.2(TTN):c.95716C>G (p.Pro31906Ala)
|
rs755949122
|
0.00005
|
NM_001278064.2(GRM1):c.3044C>G (p.Pro1015Arg)
|
rs199777173
|
0.00005
|
NM_001367561.1(DOCK7):c.5080A>G (p.Met1694Val)
|
rs142608509
|
0.00005
|
NM_001378452.1(ITPR1):c.256G>A (p.Ala86Thr)
|
rs767787371
|
0.00005
|
NM_001378969.1(KCND3):c.1798G>A (p.Gly600Arg)
|
rs149344567
|
0.00005
|
NM_001458.5(FLNC):c.4222G>A (p.Glu1408Lys)
|
rs965589915
|
0.00005
|
NM_001692.4(ATP6V1B1):c.992G>A (p.Arg331Gln)
|
rs148429410
|
0.00005
|
NM_001849.4(COL6A2):c.*1C>T
|
rs376976896
|
0.00005
|
NM_001849.4(COL6A2):c.1493G>A (p.Arg498His)
|
rs267606749
|
0.00005
|
NM_001851.6(COL9A1):c.166+5G>A
|
rs544432669
|
0.00005
|
NM_001852.4(COL9A2):c.629C>T (p.Pro210Leu)
|
rs199831035
|
0.00005
|
NM_002055.5(GFAP):c.86G>A (p.Arg29His)
|
rs201998644
|
0.00005
|
NM_002087.4(GRN):c.803C>T (p.Thr268Met)
|
rs202006119
|
0.00005
|
NM_002693.3(POLG):c.1684C>T (p.Arg562Trp)
|
rs756952607
|
0.00005
|
NM_002693.3(POLG):c.1850G>A (p.Arg617His)
|
rs779961986
|
0.00005
|
NM_003919.3(SGCE):c.21G>A (p.Trp7Ter)
|
rs201378067
|
0.00005
|
NM_004172.5(SLC1A3):c.1144G>A (p.Val382Met)
|
rs199787096
|
0.00005
|
NM_004817.4(TJP2):c.3500G>T (p.Arg1167Leu)
|
rs370985421
|
0.00005
|
NM_005477.3(HCN4):c.2537C>T (p.Pro846Leu)
|
rs747467877
|
0.00005
|
NM_005529.7(HSPG2):c.10633G>A (p.Val3545Ile)
|
rs538111168
|
0.00005
|
NM_005529.7(HSPG2):c.10661G>A (p.Arg3554His)
|
rs144854184
|
0.00005
|
NM_005529.7(HSPG2):c.4813G>A (p.Gly1605Arg)
|
rs370427626
|
0.00005
|
NM_005529.7(HSPG2):c.5075G>T (p.Gly1692Val)
|
rs777795072
|
0.00005
|
NM_005629.4(SLC6A8):c.1874G>A (p.Ser625Asn)
|
rs1181103233
|
0.00005
|
NM_006796.3(AFG3L2):c.2047A>G (p.Met683Val)
|
rs751855138
|
0.00005
|
NM_006946.4(SPTBN2):c.3824G>A (p.Arg1275Gln)
|
rs534938954
|
0.00005
|
NM_006946.4(SPTBN2):c.6280C>T (p.Arg2094Trp)
|
rs368782432
|
0.00005
|
NM_007078.3(LDB3):c.1904T>G (p.Val635Gly)
|
rs567014755
|
0.00005
|
NM_014159.7(SETD2):c.986G>A (p.Arg329Gln)
|
rs540015912
|
0.00005
|
NM_014363.6(SACS):c.6349G>A (p.Glu2117Lys)
|
rs754033201
|
0.00005
|
NM_014845.6(FIG4):c.2200G>A (p.Glu734Lys)
|
rs372846619
|
0.00005
|
NM_014946.4(SPAST):c.832G>A (p.Val278Met)
|
rs369908571
|
0.00005
|
NM_015046.7(SETX):c.1015A>C (p.Lys339Gln)
|
rs768437607
|
0.00005
|
NM_015046.7(SETX):c.3056C>A (p.Ser1019Tyr)
|
rs749204574
|
0.00005
|
NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr)
|
rs373375060
|
0.00005
|
NM_015046.7(SETX):c.4252C>G (p.Pro1418Ala)
|
rs747356601
|
0.00005
|
NM_015346.4(ZFYVE26):c.2010C>G (p.His670Gln)
|
rs749925808
|
0.00005
|
NM_016239.4(MYO15A):c.5925G>A (p.Trp1975Ter)
|
rs375290498
|
0.00005
|
NM_017837.4(PIGV):c.115G>A (p.Glu39Lys)
|
rs369275802
|
0.00005
|
NM_018136.5(ASPM):c.7002G>T (p.Met2334Ile)
|
rs764918001
|
0.00005
|
NM_018319.4(TDP1):c.1701G>C (p.Met567Ile)
|
rs375084022
|
0.00005
|
NM_020247.5(COQ8A):c.1246C>T (p.Arg416Cys)
|
rs151292389
|
0.00005
|
NM_020919.4(ALS2):c.3863C>T (p.Pro1288Leu)
|
rs376835062
|
0.00005
|
NM_022772.4(EPS8L2):c.793G>A (p.Asp265Asn)
|
rs775248143
|
0.00005
|
NM_024577.4(SH3TC2):c.2257C>T (p.Arg753Trp)
|
rs530824367
|
0.00005
|
NM_024884.3(L2HGDH):c.70C>T (p.Pro24Ser)
|
rs749417358
|
0.00005
|
NM_025137.4(SPG11):c.5471G>A (p.Arg1824Gln)
|
rs752401008
|
0.00005
|
NM_032119.4(ADGRV1):c.16325G>A (p.Gly5442Asp)
|
rs376505416
|
0.00005
|
NM_032119.4(ADGRV1):c.4786G>A (p.Val1596Ile)
|
rs371179945
|
0.00005
|
NM_032737.4(LMNB2):c.1234G>A (p.Val412Ile)
|
rs577848864
|
0.00005
|
NM_152743.4(BRAT1):c.578C>T (p.Ala193Val)
|
rs144841598
|
0.00005
|
NM_152743.4(BRAT1):c.626C>T (p.Ala209Val)
|
rs112960104
|
0.00005
|
NM_153033.5(KCTD7):c.190A>G (p.Thr64Ala)
|
rs201296399
|
0.00005
|
NM_173500.4(TTBK2):c.2746C>A (p.Leu916Ile)
|
rs371807025
|
0.00005
|
NM_173500.4(TTBK2):c.3484C>T (p.Arg1162Cys)
|
rs200437800
|
0.00005
|
NM_175914.5(HNF4A):c.*4G>A
|
rs193922468
|
0.00005
|
NM_175914.5(HNF4A):c.83C>T (p.Ala28Val)
|
rs140143857
|
0.00005
|
NM_176787.5(PIGN):c.1333G>A (p.Val445Ile)
|
rs187036839
|
0.00005
|
NM_181882.3(PRX):c.4244_4246dup (p.Val1415_Ser1416insLeu)
|
rs771234852
|
0.00005
|
NM_182914.3(SYNE2):c.2194C>A (p.Gln732Lys)
|
rs758897129
|
0.00005
|
NM_182961.4(SYNE1):c.10048A>G (p.Asn3350Asp)
|
rs145117891
|
0.00005
|
NM_182961.4(SYNE1):c.11848C>T (p.Leu3950Phe)
|
rs182154754
|
0.00005
|
NM_182961.4(SYNE1):c.12142T>G (p.Cys4048Gly)
|
rs377526133
|
0.00005
|
NM_182961.4(SYNE1):c.12958C>T (p.His4320Tyr)
|
rs775930653
|
0.00005
|
NM_182961.4(SYNE1):c.16568A>G (p.Asn5523Ser)
|
rs773901491
|
0.00005
|
NM_182961.4(SYNE1):c.20069C>T (p.Thr6690Met)
|
rs143674856
|
0.00005
|
NM_182961.4(SYNE1):c.21502G>A (p.Val7168Ile)
|
rs760451139
|
0.00005
|
NM_182961.4(SYNE1):c.2174C>T (p.Thr725Met)
|
rs374866393
|
0.00005
|
NM_182961.4(SYNE1):c.5048T>G (p.Met1683Arg)
|
rs769420760
|
0.00005
|
NM_182961.4(SYNE1):c.7523A>T (p.Gln2508Leu)
|
rs201127061
|
0.00005
|
NM_201384.3(PLEC):c.10615C>T (p.Arg3539Cys)
|
rs201438739
|
0.00005
|
NM_201384.3(PLEC):c.5023C>T (p.Arg1675Trp)
|
rs567331060
|
0.00005
|
NM_201384.3(PLEC):c.9724C>T (p.Pro3242Ser)
|
rs782376110
|
0.00005
|
NM_000051.4(ATM):c.202A>G (p.Ile68Val)
|
rs35389822
|
0.00004
|
NM_000051.4(ATM):c.3154-5C>T
|
rs55719759
|
0.00004
|
NM_000051.4(ATM):c.4466G>A (p.Arg1489His)
|
rs201594549
|
0.00004
|
NM_000051.4(ATM):c.6179G>C (p.Arg2060Pro)
|
rs376521407
|
0.00004
|
NM_000051.4(ATM):c.7592T>C (p.Met2531Thr)
|
rs587781365
|
0.00004
|
NM_000051.4(ATM):c.8558C>T (p.Thr2853Met)
|
rs141534716
|
0.00004
|
NM_000069.3(CACNA1S):c.4882C>T (p.Leu1628Phe)
|
rs200848930
|
0.00004
|
NM_000070.3(CAPN3):c.1001A>T (p.His334Leu)
|
rs749863676
|
0.00004
|
NM_000070.3(CAPN3):c.1553A>G (p.Gln518Arg)
|
rs764593698
|
0.00004
|
NM_000070.3(CAPN3):c.2184+3G>A
|
rs771917810
|
0.00004
|
NM_000083.3(CLCN1):c.1748A>G (p.Gln583Arg)
|
rs747895358
|
0.00004
|
NM_000083.3(CLCN1):c.1831C>T (p.Arg611Cys)
|
rs146469288
|
0.00004
|
NM_000083.3(CLCN1):c.2578G>A (p.Val860Ile)
|
rs767209392
|
0.00004
|
NM_000083.3(CLCN1):c.2645C>T (p.Pro882Leu)
|
rs745329674
|
0.00004
|
NM_000083.3(CLCN1):c.412G>A (p.Val138Ile)
|
rs762344462
|
0.00004
|
NM_000088.4(COL1A1):c.3278G>A (p.Arg1093His)
|
rs781491172
|
0.00004
|
NM_000088.4(COL1A1):c.4168C>T (p.Leu1390Phe)
|
rs768808806
|
0.00004
|
NM_000141.5(FGFR2):c.1327C>G (p.Pro443Ala)
|
rs7078073
|
0.00004
|
NM_000162.5(GCK):c.646G>A (p.Glu216Lys)
|
rs778550411
|
0.00004
|
NM_000170.3(GLDC):c.869C>T (p.Ala290Val)
|
rs534936420
|
0.00004
|
NM_000217.3(KCNA1):c.1449A>T (p.Gln483His)
|
rs372539672
|
0.00004
|
NM_000218.3(KCNQ1):c.41G>T (p.Arg14Leu)
|
rs1424013094
|
0.00004
|
NM_000238.4(KCNH2):c.1128+1884G>A
|
rs765679790
|
0.00004
|
NM_000288.4(PEX7):c.203A>T (p.Asp68Val)
|
rs763388501
|
0.00004
|
NM_000304.4(PMP22):c.185T>G (p.Leu62Arg)
|
rs756046682
|
0.00004
|
NM_000334.4(SCN4A):c.2377-5C>T
|
rs560170181
|
0.00004
|
NM_000334.4(SCN4A):c.3871A>G (p.Ile1291Val)
|
rs777298727
|
0.00004
|
NM_000334.4(SCN4A):c.5126A>G (p.Asn1709Ser)
|
rs766365683
|
0.00004
|
NM_000334.4(SCN4A):c.713C>T (p.Thr238Met)
|
rs201661188
|
0.00004
|
NM_000360.4(TH):c.304G>T (p.Val102Leu)
|
rs372077622
|
0.00004
|
NM_000371.4(TTR):c.386C>T (p.Ala129Val)
|
rs121918092
|
0.00004
|
NM_000388.4(CASR):c.308C>T (p.Thr103Ile)
|
rs199734455
|
0.00004
|
NM_000399.5(EGR2):c.826C>A (p.Pro276Thr)
|
rs774442561
|
0.00004
|
NM_000426.4(LAMA2):c.5050G>A (p.Glu1684Lys)
|
rs201632009
|
0.00004
|
NM_000426.4(LAMA2):c.6539A>T (p.Asp2180Val)
|
rs567385461
|
0.00004
|
NM_000426.4(LAMA2):c.7118C>T (p.Ser2373Leu)
|
rs758887080
|
0.00004
|
NM_000426.4(LAMA2):c.9060G>A (p.Leu3020=)
|
rs368896579
|
0.00004
|
NM_000435.3(NOTCH3):c.1724C>T (p.Thr575Met)
|
rs371176740
|
0.00004
|
NM_000435.3(NOTCH3):c.1873G>A (p.Ala625Thr)
|
rs747633377
|
0.00004
|
NM_000435.3(NOTCH3):c.2149C>T (p.Arg717Cys)
|
rs144163298
|
0.00004
|
NM_000435.3(NOTCH3):c.3566T>C (p.Phe1189Ser)
|
rs764617561
|
0.00004
|
NM_000435.3(NOTCH3):c.488G>A (p.Arg163Gln)
|
rs761209241
|
0.00004
|
NM_000435.3(NOTCH3):c.6267G>A (p.Pro2089=)
|
rs577303432
|
0.00004
|
NM_000435.3(NOTCH3):c.6437C>T (p.Ala2146Val)
|
rs770739669
|
0.00004
|
NM_000500.9(CYP21A2):c.1075G>A (p.Val359Ile)
|
rs373579128
|
0.00004
|
NM_000540.3(RYR1):c.13498G>A (p.Glu4500Lys)
|
rs752192756
|
0.00004
|
NM_000540.3(RYR1):c.4361C>T (p.Pro1454Leu)
|
rs149737658
|
0.00004
|
NM_000540.3(RYR1):c.4963C>T (p.Arg1655Cys)
|
rs371777056
|
0.00004
|
NM_000545.8(HNF1A):c.527-18G>A
|
rs375259151
|
0.00004
|
NM_000722.4(CACNA2D1):c.1141A>G (p.Lys381Glu)
|
rs756707031
|
0.00004
|
NM_000726.5(CACNB4):c.521+5G>A
|
rs768612563
|
0.00004
|
NM_000744.7(CHRNA4):c.1637T>G (p.Val546Gly)
|
rs764888239
|
0.00004
|
NM_000744.7(CHRNA4):c.514C>T (p.Gln172Ter)
|
rs112748821
|
0.00004
|
NM_001005361.3(DNM2):c.2237C>T (p.Thr746Met)
|
rs202136528
|
0.00004
|
NM_001009944.3(PKD1):c.10006G>A (p.Val3336Ile)
|
rs754956606
|
0.00004
|
NM_001009944.3(PKD1):c.10933C>T (p.Arg3645Cys)
|
rs765277688
|
0.00004
|
NM_001009944.3(PKD1):c.1723-17G>A
|
rs749856740
|
0.00004
|
NM_001009944.3(PKD1):c.239G>A (p.Arg80Gln)
|
rs1190107349
|
0.00004
|
NM_001009944.3(PKD1):c.5209A>G (p.Thr1737Ala)
|
rs760993331
|
0.00004
|
NM_001009944.3(PKD1):c.7100C>T (p.Ser2367Phe)
|
rs771932172
|
0.00004
|
NM_001038603.3(MARVELD2):c.476A>G (p.Tyr159Cys)
|
rs575942430
|
0.00004
|
NM_001039213.4(CEACAM16):c.703C>T (p.Arg235Cys)
|
rs746164064
|
0.00004
|
NM_001048166.1(STIL):c.892A>G (p.Asn298Asp)
|
rs770213403
|
0.00004
|
NM_001081.4(CUBN):c.3496G>A (p.Gly1166Arg)
|
rs201443885
|
0.00004
|
NM_001083961.2(WDR62):c.3368A>C (p.Gln1123Pro)
|
rs144233940
|
0.00004
|
NM_001127222.2(CACNA1A):c.1306G>A (p.Glu436Lys)
|
rs759782636
|
0.00004
|
NM_001127222.2(CACNA1A):c.3175C>T (p.Pro1059Ser)
|
rs775079932
|
0.00004
|
NM_001127222.2(CACNA1A):c.3226G>A (p.Ala1076Thr)
|
rs554091859
|
0.00004
|
NM_001127222.2(CACNA1A):c.7306G>A (p.Ala2436Thr)
|
rs754573556
|
0.00004
|
NM_001134407.3(GRIN2A):c.3961G>C (p.Glu1321Gln)
|
rs370754278
|
0.00004
|
NM_001134407.3(GRIN2A):c.547T>A (p.Phe183Ile)
|
rs587780353
|
0.00004
|
NM_001145809.2(MYH14):c.4946G>A (p.Arg1649Gln)
|
rs368076336
|
0.00004
|
NM_001146262.4(SYT14):c.1709C>T (p.Ala570Val)
|
rs970796538
|
0.00004
|
NM_001164508.2(NEB):c.22183G>A (p.Val7395Ile)
|
rs1396168176
|
0.00004
|
NM_001191061.2(SLC25A22):c.562A>G (p.Lys188Glu)
|
rs767949941
|
0.00004
|
NM_001242896.3(DEPDC5):c.380A>G (p.Tyr127Cys)
|
rs370881336
|
0.00004
|
NM_001267550.2(TTN):c.15749C>T (p.Thr5250Ile)
|
rs759384825
|
0.00004
|
NM_001267550.2(TTN):c.18037T>C (p.Tyr6013His)
|
rs548015673
|
0.00004
|
NM_001267550.2(TTN):c.21785C>G (p.Thr7262Ser)
|
rs200954184
|
0.00004
|
NM_001267550.2(TTN):c.24107C>T (p.Ser8036Leu)
|
rs200598509
|
0.00004
|
NM_001267550.2(TTN):c.26564G>T (p.Gly8855Val)
|
rs767057972
|
0.00004
|
NM_001267550.2(TTN):c.29015C>T (p.Thr9672Ile)
|
rs769996978
|
0.00004
|
NM_001267550.2(TTN):c.29230C>T (p.Arg9744Cys)
|
rs375266859
|
0.00004
|
NM_001267550.2(TTN):c.38845C>T (p.Pro12949Ser)
|
rs757781411
|
0.00004
|
NM_001267550.2(TTN):c.40557C>T (p.Ser13519=)
|
rs371178429
|
0.00004
|
NM_001267550.2(TTN):c.45199G>A (p.Asp15067Asn)
|
rs370904881
|
0.00004
|
NM_001267550.2(TTN):c.62479T>C (p.Ser20827Pro)
|
rs1001628726
|
0.00004
|
NM_001267550.2(TTN):c.65782C>T (p.Arg21928Trp)
|
rs371856109
|
0.00004
|
NM_001267550.2(TTN):c.66015A>T (p.Gln22005His)
|
rs747951231
|
0.00004
|
NM_001267550.2(TTN):c.67210G>A (p.Val22404Met)
|
rs369257896
|
0.00004
|
NM_001267550.2(TTN):c.68887A>C (p.Thr22963Pro)
|
rs771761816
|
0.00004
|
NM_001267550.2(TTN):c.70288G>A (p.Val23430Ile)
|
rs549709481
|
0.00004
|
NM_001267550.2(TTN):c.7459C>A (p.Pro2487Thr)
|
rs759448340
|
0.00004
|
NM_001267550.2(TTN):c.83821G>A (p.Glu27941Lys)
|
rs545954394
|
0.00004
|
NM_001267550.2(TTN):c.93724C>T (p.Arg31242Cys)
|
rs563887822
|
0.00004
|
NM_001267550.2(TTN):c.9443G>A (p.Arg3148His)
|
rs368786036
|
0.00004
|
NM_001267550.2(TTN):c.94507G>A (p.Ala31503Thr)
|
rs375657115
|
0.00004
|
NM_001267550.2(TTN):c.94664G>A (p.Arg31555His)
|
rs727503545
|
0.00004
|
NM_001267550.2(TTN):c.95153G>T (p.Ser31718Ile)
|
rs758006837
|
0.00004
|
NM_001278116.2(L1CAM):c.367G>A (p.Ala123Thr)
|
rs782752037
|
0.00004
|
NM_001286445.3(RIPOR2):c.1858-1422G>T
|
rs928982652
|
0.00004
|
NM_001330260.2(SCN8A):c.5558A>G (p.Lys1853Arg)
|
rs1410900258
|
0.00004
|
NM_001365999.1(SZT2):c.7743-4A>G
|
rs368440874
|
0.00004
|
NM_001378452.1(ITPR1):c.1554+6T>G
|
rs371214686
|
0.00004
|
NM_001378452.1(ITPR1):c.3564+5G>T
|
rs371420259
|
0.00004
|
NM_001378452.1(ITPR1):c.3766G>A (p.Ala1256Thr)
|
rs768179678
|
0.00004
|
NM_001378452.1(ITPR1):c.6448G>A (p.Gly2150Ser)
|
rs199890939
|
0.00004
|
NM_001378452.1(ITPR1):c.929C>T (p.Thr310Met)
|
rs201693219
|
0.00004
|
NM_001378609.3(OTOGL):c.2986G>A (p.Asp996Asn)
|
rs148362257
|
0.00004
|
NM_001378969.1(KCND3):c.1649G>A (p.Arg550His)
|
rs151164490
|
0.00004
|
NM_001845.6(COL4A1):c.1402C>T (p.Leu468Phe)
|
rs757163211
|
0.00004
|
NM_001853.4(COL9A3):c.1538C>T (p.Pro513Leu)
|
rs202094480
|
0.00004
|
NM_001927.4(DES):c.109C>T (p.Arg37Trp)
|
rs537881554
|
0.00004
|
NM_002047.4(GARS1):c.1991T>C (p.Ile664Thr)
|
rs1064797334
|
0.00004
|
NM_002055.5(GFAP):c.31C>T (p.Arg11Cys)
|
rs749815672
|
0.00004
|
NM_002693.3(POLG):c.487C>T (p.Pro163Ser)
|
rs758454871
|
0.00004
|
NM_002693.3(POLG):c.863G>A (p.Arg288His)
|
rs796052902
|
0.00004
|
NM_003482.4(KMT2D):c.9499C>T (p.Arg3167Trp)
|
rs370155635
|
0.00004
|
NM_004006.3(DMD):c.10223C>T (p.Thr3408Ile)
|
rs777510517
|
0.00004
|
NM_004082.5(DCTN1):c.2339T>C (p.Ile780Thr)
|
rs374163967
|
0.00004
|
NM_004320.6(ATP2A1):c.-2C>T
|
rs375892159
|
0.00004
|
NM_004393.6(DAG1):c.1370G>A (p.Arg457Gln)
|
rs756890406
|
0.00004
|
NM_004393.6(DAG1):c.2123C>T (p.Thr708Met)
|
rs758254304
|
0.00004
|
NM_004393.6(DAG1):c.535T>A (p.Ser179Thr)
|
rs201869343
|
0.00004
|
NM_004839.4(HOMER2):c.350C>T (p.Thr117Met)
|
rs752489637
|
0.00004
|
NM_004960.4(FUS):c.788A>G (p.Asn263Ser)
|
rs144917373
|
0.00004
|
NM_005045.4(RELN):c.1197C>T (p.Ser399=)
|
rs199686580
|
0.00004
|
NM_005045.4(RELN):c.2095G>A (p.Ala699Thr)
|
rs543233426
|
0.00004
|
NM_005045.4(RELN):c.6632G>A (p.Arg2211His)
|
rs374088118
|
0.00004
|
NM_005249.5(FOXG1):c.1273T>C (p.Ser425Pro)
|
rs780242359
|
0.00004
|
NM_005529.7(HSPG2):c.3608C>A (p.Pro1203Gln)
|
rs375214661
|
0.00004
|
NM_005529.7(HSPG2):c.4502C>T (p.Pro1501Leu)
|
rs371955842
|
0.00004
|
NM_005529.7(HSPG2):c.6353G>A (p.Arg2118His)
|
rs144032875
|
0.00004
|
NM_005529.7(HSPG2):c.665G>A (p.Arg222Gln)
|
rs762529271
|
0.00004
|
NM_005548.3(KARS1):c.1724C>G (p.Pro575Arg)
|
rs148798578
|
0.00004
|
NM_006397.3(RNASEH2A):c.874G>A (p.Gly292Ser)
|
rs768346345
|
0.00004
|
NM_006420.3(ARFGEF2):c.2015G>A (p.Gly672Glu)
|
rs373933885
|
0.00004
|
NM_006516.4(SLC2A1):c.1396G>A (p.Gly466Ser)
|
rs138139624
|
0.00004
|
NM_006796.3(AFG3L2):c.1616C>A (p.Ser539Tyr)
|
rs756205069
|
0.00004
|
NM_006796.3(AFG3L2):c.1736C>T (p.Ala579Val)
|
rs551042055
|
0.00004
|
NM_006796.3(AFG3L2):c.838C>T (p.Arg280Trp)
|
rs180989155
|
0.00004
|
NM_006922.4(SCN3A):c.2021G>A (p.Gly674Asp)
|
rs751294193
|
0.00004
|
NM_006922.4(SCN3A):c.4236A>G (p.Gln1412=)
|
rs551837418
|
0.00004
|
NM_006922.4(SCN3A):c.872C>T (p.Thr291Ile)
|
rs757676103
|
0.00004
|
NM_006946.4(SPTBN2):c.232G>A (p.Val78Met)
|
rs149918123
|
0.00004
|
NM_006946.4(SPTBN2):c.2647C>T (p.Arg883Cys)
|
rs761263852
|
0.00004
|
NM_006946.4(SPTBN2):c.2729C>T (p.Ala910Val)
|
rs532746761
|
0.00004
|
NM_006946.4(SPTBN2):c.5083C>T (p.Arg1695Trp)
|
rs150270569
|
0.00004
|
NM_006946.4(SPTBN2):c.5522G>A (p.Arg1841Gln)
|
rs778218574
|
0.00004
|
NM_006946.4(SPTBN2):c.6250G>A (p.Glu2084Lys)
|
rs145191943
|
0.00004
|
NM_006946.4(SPTBN2):c.6283C>T (p.Arg2095Trp)
|
rs761960627
|
0.00004
|
NM_006946.4(SPTBN2):c.6752G>A (p.Arg2251Gln)
|
rs763398880
|
0.00004
|
NM_006946.4(SPTBN2):c.692G>A (p.Cys231Tyr)
|
rs773129687
|
0.00004
|
NM_006946.4(SPTBN2):c.7006G>A (p.Glu2336Lys)
|
rs765015336
|
0.00004
|
NM_007262.5(PARK7):c.218C>T (p.Pro73Leu)
|
rs367584305
|
0.00004
|
NM_014053.4(FLVCR1):c.1365C>T (p.Tyr455=)
|
rs779980010
|
0.00004
|
NM_014363.6(SACS):c.10256G>A (p.Arg3419His)
|
rs536675517
|
0.00004
|
NM_014363.6(SACS):c.10737G>A (p.Met3579Ile)
|
rs199970621
|
0.00004
|
NM_014363.6(SACS):c.11161G>A (p.Gly3721Ser)
|
rs780789569
|
0.00004
|
NM_014363.6(SACS):c.11301A>T (p.Lys3767Asn)
|
rs762041995
|
0.00004
|
NM_014363.6(SACS):c.12968C>T (p.Ser4323Leu)
|
rs150225486
|
0.00004
|
NM_014363.6(SACS):c.1387C>A (p.His463Asn)
|
rs149951538
|
0.00004
|
NM_014363.6(SACS):c.1913G>A (p.Cys638Tyr)
|
rs778572943
|
0.00004
|
NM_014363.6(SACS):c.4255A>G (p.Ile1419Val)
|
rs138245586
|
0.00004
|
NM_014363.6(SACS):c.4724G>A (p.Arg1575Gln)
|
rs764992284
|
0.00004
|
NM_014363.6(SACS):c.7916T>C (p.Ile2639Thr)
|
rs202144442
|
0.00004
|
NM_014363.6(SACS):c.8192G>A (p.Arg2731His)
|
rs201127191
|
0.00004
|
NM_014845.6(FIG4):c.1405G>A (p.Gly469Arg)
|
rs201742496
|
0.00004
|
NM_014846.4(WASHC5):c.2752C>T (p.Pro918Ser)
|
rs367744328
|
0.00004
|
NM_014946.4(SPAST):c.1808C>T (p.Ala603Val)
|
rs368801051
|
0.00004
|
NM_015046.7(SETX):c.*7C>T
|
rs754956426
|
0.00004
|
NM_015046.7(SETX):c.1468G>A (p.Val490Ile)
|
rs763545230
|
0.00004
|
NM_015046.7(SETX):c.146A>G (p.Lys49Arg)
|
rs142551293
|
0.00004
|
NM_015046.7(SETX):c.1754A>G (p.Gln585Arg)
|
rs188247474
|
0.00004
|
NM_015046.7(SETX):c.2176T>C (p.Cys726Arg)
|
rs377734748
|
0.00004
|
NM_015046.7(SETX):c.2935G>A (p.Asp979Asn)
|
rs138287942
|
0.00004
|
NM_015046.7(SETX):c.3587A>G (p.Asn1196Ser)
|
rs376381668
|
0.00004
|
NM_015046.7(SETX):c.4202G>T (p.Gly1401Val)
|
rs185868357
|
0.00004
|
NM_015046.7(SETX):c.4436C>T (p.Ala1479Val)
|
rs761119964
|
0.00004
|
NM_015046.7(SETX):c.4828C>T (p.Leu1610Phe)
|
rs749891883
|
0.00004
|
NM_015046.7(SETX):c.4979A>G (p.His1660Arg)
|
rs371894414
|
0.00004
|
NM_015046.7(SETX):c.546C>A (p.Asp182Glu)
|
rs199748733
|
0.00004
|
NM_015046.7(SETX):c.7073A>G (p.Asp2358Gly)
|
rs770469636
|
0.00004
|
NM_015046.7(SETX):c.7715C>T (p.Thr2572Met)
|
rs773364996
|
0.00004
|
NM_015046.7(SETX):c.839-6T>C
|
rs760584527
|
0.00004
|
NM_015346.4(ZFYVE26):c.6560G>A (p.Arg2187Gln)
|
rs151306544
|
0.00004
|
NM_015915.5(ATL1):c.311A>G (p.Asn104Ser)
|
rs377736535
|
0.00004
|
NM_018075.5(ANO10):c.5A>T (p.Lys2Ile)
|
rs569513041
|
0.00004
|
NM_018319.4(TDP1):c.757G>A (p.Ala253Thr)
|
rs202165305
|
0.00004
|
NM_018429.3(BDP1):c.3416A>T (p.Glu1139Val)
|
rs529958885
|
0.00004
|
NM_018941.4(CLN8):c.661G>A (p.Gly221Ser)
|
rs386834136
|
0.00004
|
NM_020247.5(COQ8A):c.1711G>A (p.Ala571Thr)
|
rs762900727
|
0.00004
|
NM_020919.4(ALS2):c.1129G>A (p.Ala377Thr)
|
rs200990057
|
0.00004
|
NM_020919.4(ALS2):c.2098A>G (p.Thr700Ala)
|
rs745544432
|
0.00004
|
NM_021098.3(CACNA1H):c.2461C>G (p.Leu821Val)
|
rs777617840
|
0.00004
|
NM_021098.3(CACNA1H):c.4736G>A (p.Arg1579Gln)
|
rs367947771
|
0.00004
|
NM_021098.3(CACNA1H):c.5162G>A (p.Arg1721His)
|
rs747789914
|
0.00004
|
NM_021830.5(TWNK):c.56G>A (p.Gly19Glu)
|
rs767175342
|
0.00004
|
NM_021942.6(TRAPPC11):c.2234C>A (p.Thr745Lys)
|
rs768000138
|
0.00004
|
NM_022089.4(ATP13A2):c.1781C>T (p.Ala594Val)
|
rs372058266
|
0.00004
|
NM_022124.6(CDH23):c.982G>A (p.Ala328Thr)
|
rs374545987
|
0.00004
|
NM_022464.5(SIL1):c.1088A>C (p.Gln363Pro)
|
rs563414935
|
0.00004
|
NM_022464.5(SIL1):c.902C>T (p.Pro301Leu)
|
rs1478296366
|
0.00004
|
NM_022489.4(INF2):c.2857C>T (p.Arg953Trp)
|
rs942393807
|
0.00004
|
NM_024301.5(FKRP):c.328C>T (p.Arg110Trp)
|
rs758759348
|
0.00004
|
NM_024577.4(SH3TC2):c.1168G>T (p.Asp390Tyr)
|
rs771921298
|
0.00004
|
NM_024577.4(SH3TC2):c.1318C>T (p.Arg440Cys)
|
rs768012192
|
0.00004
|
NM_024577.4(SH3TC2):c.3150G>A (p.Ala1050=)
|
rs768044718
|
0.00004
|
NM_024577.4(SH3TC2):c.3611A>G (p.Lys1204Arg)
|
rs143436632
|
0.00004
|
NM_024596.5(MCPH1):c.2255G>A (p.Arg752His)
|
rs536823455
|
0.00004
|
NM_030962.4(SBF2):c.129G>A (p.Gln43=)
|
rs761285505
|
0.00004
|
NM_030962.4(SBF2):c.136G>C (p.Glu46Gln)
|
rs878855130
|
0.00004
|
NM_030962.4(SBF2):c.4523G>A (p.Arg1508His)
|
rs770619905
|
0.00004
|
NM_032119.4(ADGRV1):c.7843G>A (p.Gly2615Ser)
|
rs1343515415
|
0.00004
|
NM_032634.4(PIGO):c.365G>A (p.Arg122Gln)
|
rs756043994
|
0.00004
|
NM_032737.4(LMNB2):c.1789G>A (p.Glu597Lys)
|
rs777988017
|
0.00004
|
NM_033380.3(COL4A5):c.796C>G (p.Arg266Gly)
|
rs104886071
|
0.00004
|
NM_130837.3(OPA1):c.1016C>T (p.Thr339Met)
|
rs141326740
|
0.00004
|
NM_133261.3(GIPC3):c.826G>A (p.Ala276Thr)
|
rs779376305
|
0.00004
|
NM_133433.4(NIPBL):c.6674C>T (p.Ser2225Phe)
|
rs750309699
|
0.00004
|
NM_139319.3(SLC17A8):c.854C>T (p.Thr285Ile)
|
rs727503424
|
0.00004
|
NM_144988.4(ALG14):c.326G>A (p.Arg109Gln)
|
rs199689080
|
0.00004
|
NM_152743.4(BRAT1):c.1702G>A (p.Ala568Thr)
|
rs141709461
|
0.00004
|
NM_175914.5(HNF4A):c.358T>C (p.Ser120Pro)
|
rs780342162
|
0.00004
|
NM_175914.5(HNF4A):c.68G>A (p.Gly23Asp)
|
rs773661614
|
0.00004
|
NM_175914.5(HNF4A):c.768G>C (p.Glu256Asp)
|
rs193922477
|
0.00004
|
NM_181882.3(PRX):c.2384T>C (p.Met795Thr)
|
rs756958051
|
0.00004
|
NM_181882.3(PRX):c.2464G>A (p.Glu822Lys)
|
rs772009400
|
0.00004
|
NM_181882.3(PRX):c.2620G>A (p.Ala874Thr)
|
rs145790961
|
0.00004
|
NM_181882.3(PRX):c.625G>A (p.Ala209Thr)
|
rs769143653
|
0.00004
|
NM_182914.3(SYNE2):c.17141G>A (p.Arg5714His)
|
rs200137127
|
0.00004
|
NM_182914.3(SYNE2):c.19153G>A (p.Glu6385Lys)
|
rs374948516
|
0.00004
|
NM_182914.3(SYNE2):c.2296A>G (p.Met766Val)
|
rs556342048
|
0.00004
|
NM_182961.4(SYNE1):c.11309A>G (p.Lys3770Arg)
|
rs780693119
|
0.00004
|
NM_182961.4(SYNE1):c.11589A>C (p.Gln3863His)
|
rs190032752
|
0.00004
|
NM_182961.4(SYNE1):c.12007A>G (p.Lys4003Glu)
|
rs772000149
|
0.00004
|
NM_182961.4(SYNE1):c.1322C>T (p.Thr441Met)
|
rs772375574
|
0.00004
|
NM_182961.4(SYNE1):c.13553G>A (p.Arg4518His)
|
rs148248006
|
0.00004
|
NM_182961.4(SYNE1):c.13789G>A (p.Glu4597Lys)
|
rs371375804
|
0.00004
|
NM_182961.4(SYNE1):c.14890G>A (p.Glu4964Lys)
|
rs780258342
|
0.00004
|
NM_182961.4(SYNE1):c.15580C>T (p.Arg5194Cys)
|
rs757086609
|
0.00004
|
NM_182961.4(SYNE1):c.16868G>A (p.Arg5623His)
|
rs753544584
|
0.00004
|
NM_182961.4(SYNE1):c.17140C>T (p.Arg5714Trp)
|
rs202171698
|
0.00004
|
NM_182961.4(SYNE1):c.19228G>A (p.Glu6410Lys)
|
rs143554730
|
0.00004
|
NM_182961.4(SYNE1):c.19555G>A (p.Val6519Ile)
|
rs563568189
|
0.00004
|
NM_182961.4(SYNE1):c.20169C>T (p.Asp6723=)
|
rs367936675
|
0.00004
|
NM_182961.4(SYNE1):c.20449C>T (p.Arg6817Trp)
|
rs140903556
|
0.00004
|
NM_182961.4(SYNE1):c.20660A>G (p.Gln6887Arg)
|
rs150163670
|
0.00004
|
NM_182961.4(SYNE1):c.21095A>G (p.Gln7032Arg)
|
rs752508132
|
0.00004
|
NM_182961.4(SYNE1):c.21560T>C (p.Leu7187Ser)
|
rs778441411
|
0.00004
|
NM_182961.4(SYNE1):c.21613G>A (p.Val7205Met)
|
rs377449974
|
0.00004
|
NM_182961.4(SYNE1):c.26279G>A (p.Gly8760Glu)
|
rs747635401
|
0.00004
|
NM_182961.4(SYNE1):c.3186+4C>T
|
rs747984490
|
0.00004
|
NM_182961.4(SYNE1):c.4075A>G (p.Thr1359Ala)
|
rs377718960
|
0.00004
|
NM_182961.4(SYNE1):c.5230G>A (p.Glu1744Lys)
|
rs540091060
|
0.00004
|
NM_182961.4(SYNE1):c.6289G>C (p.Ala2097Pro)
|
rs375773340
|
0.00004
|
NM_182961.4(SYNE1):c.8339T>C (p.Leu2780Pro)
|
rs757960938
|
0.00004
|
NM_182961.4(SYNE1):c.862G>A (p.Ala288Thr)
|
rs770907182
|
0.00004
|
NM_182961.4(SYNE1):c.9814G>C (p.Val3272Leu)
|
rs368607560
|
0.00004
|
NM_198859.4(PRICKLE2):c.2219C>T (p.Ser740Phe)
|
rs760799226
|
0.00004
|
NM_198994.3(TGM6):c.1898T>C (p.Ile633Thr)
|
rs746304003
|
0.00004
|
NM_198994.3(TGM6):c.691C>T (p.Arg231Ter)
|
rs201338900
|
0.00004
|
NM_198994.3(TGM6):c.755G>A (p.Arg252His)
|
rs147093390
|
0.00004
|
NM_198999.3(SLC26A5):c.1828G>A (p.Glu610Lys)
|
rs148538056
|
0.00004
|
NM_201384.3(PLEC):c.4475C>T (p.Ala1492Val)
|
rs782685705
|
0.00004
|
NM_201384.3(PLEC):c.6914G>A (p.Arg2305Gln)
|
rs532388907
|
0.00004
|
NM_201384.3(PLEC):c.7393G>A (p.Glu2465Lys)
|
rs782413821
|
0.00004
|
NM_201384.3(PLEC):c.7738C>T (p.Arg2580Trp)
|
rs531396914
|
0.00004
|
NM_201384.3(PLEC):c.9394C>T (p.Arg3132Cys)
|
rs370266957
|
0.00004
|
NM_201525.4(ADGRG1):c.1781G>A (p.Arg594His)
|
rs757051705
|
0.00004
|
NM_206933.4(USH2A):c.12344G>A (p.Arg4115His)
|
rs775075094
|
0.00004
|
NM_213599.3(ANO5):c.583C>T (p.Arg195Trp)
|
rs149040903
|
0.00004
|
NM_213655.5(WNK1):c.2653G>T (p.Val885Phe)
|
rs769092053
|
0.00004
|
NM_000023.4(SGCA):c.1133C>T (p.Ala378Val)
|
rs751466306
|
0.00003
|
NM_000051.4(ATM):c.2414G>A (p.Arg805Gln)
|
rs587782255
|
0.00003
|
NM_000051.4(ATM):c.5189G>A (p.Arg1730Gln)
|
rs373789346
|
0.00003
|
NM_000051.4(ATM):c.649A>G (p.Ile217Val)
|
rs547045780
|
0.00003
|
NM_000069.3(CACNA1S):c.2157G>A (p.Lys719=)
|
rs889659456
|
0.00003
|
NM_000083.3(CLCN1):c.1541A>G (p.Asp514Gly)
|
rs1441046956
|
0.00003
|
NM_000083.3(CLCN1):c.2864A>T (p.Glu955Val)
|
rs150796358
|
0.00003
|
NM_000088.4(COL1A1):c.*16A>G
|
rs202170631
|
0.00003
|
NM_000092.5(COL4A4):c.4693C>T (p.Arg1565Cys)
|
rs372161135
|
0.00003
|
NM_000092.5(COL4A4):c.4708G>A (p.Glu1570Lys)
|
rs757328549
|
0.00003
|
NM_000100.4(CSTB):c.167A>G (p.Lys56Arg)
|
rs935774172
|
0.00003
|
NM_000110.4(DPYD):c.2074C>T (p.Arg692Trp)
|
rs538703919
|
0.00003
|
NM_000156.6(GAMT):c.292C>T (p.Arg98Trp)
|
rs765070826
|
0.00003
|
NM_000162.5(GCK):c.301G>A (p.Val101Met)
|
rs762922697
|
0.00003
|
NM_000166.6(GJB1):c.689G>T (p.Arg230Leu)
|
rs780335726
|
0.00003
|
NM_000166.6(GJB1):c.830G>A (p.Ser277Asn)
|
rs748095080
|
0.00003
|
NM_000196.4(HSD11B2):c.949G>A (p.Asp317Asn)
|
rs147758873
|
0.00003
|
NM_000209.4(PDX1):c.*8G>A
|
rs940344638
|
0.00003
|
NM_000209.4(PDX1):c.820G>T (p.Val274Phe)
|
rs930365498
|
0.00003
|
NM_000231.3(SGCG):c.1-3C>T
|
rs373335254
|
0.00003
|
NM_000238.4(KCNH2):c.2902C>G (p.Pro968Ala)
|
rs753788508
|
0.00003
|
NM_000334.4(SCN4A):c.2260G>A (p.Val754Ile)
|
rs747401713
|
0.00003
|
NM_000334.4(SCN4A):c.4303G>C (p.Asp1435His)
|
rs776355318
|
0.00003
|
NM_000334.4(SCN4A):c.5482C>T (p.Arg1828Cys)
|
rs758511540
|
0.00003
|
NM_000334.4(SCN4A):c.553G>A (p.Asp185Asn)
|
rs778661227
|
0.00003
|
NM_000335.5(SCN5A):c.1577G>A (p.Arg526His)
|
rs45627438
|
0.00003
|
NM_000335.5(SCN5A):c.476A>G (p.Tyr159Cys)
|
rs767116750
|
0.00003
|
NM_000337.6(SGCD):c.767C>T (p.Thr256Met)
|
rs578056399
|
0.00003
|
NM_000338.3(SLC12A1):c.513A>C (p.Gln171His)
|
rs942607677
|
0.00003
|
NM_000352.6(ABCC8):c.1067A>G (p.Tyr356Cys)
|
rs59852838
|
0.00003
|
NM_000399.5(EGR2):c.733G>A (p.Asp245Asn)
|
rs745823802
|
0.00003
|
NM_000400.4(ERCC2):c.6G>C (p.Lys2Asn)
|
rs200443634
|
0.00003
|
NM_000426.4(LAMA2):c.2477G>A (p.Arg826Gln)
|
rs759973830
|
0.00003
|
NM_000426.4(LAMA2):c.6518A>T (p.Asn2173Ile)
|
rs529110314
|
0.00003
|
NM_000435.3(NOTCH3):c.2455C>G (p.Pro819Ala)
|
rs1301248585
|
0.00003
|
NM_000435.3(NOTCH3):c.2588C>T (p.Ser863Leu)
|
rs758913191
|
0.00003
|
NM_000435.3(NOTCH3):c.3311G>A (p.Gly1104Glu)
|
rs145524535
|
0.00003
|
NM_000435.3(NOTCH3):c.3352A>T (p.Asn1118Tyr)
|
rs376950447
|
0.00003
|
NM_000435.3(NOTCH3):c.4914A>G (p.Glu1638=)
|
rs149222385
|
0.00003
|
NM_000435.3(NOTCH3):c.6136C>T (p.Pro2046Ser)
|
rs1354320725
|
0.00003
|
NM_000451.4(SHOX):c.543A>C (p.Lys181Asn)
|
rs202144835
|
0.00003
|
NM_000451.4(SHOX):c.640G>A (p.Ala214Thr)
|
rs1335171952
|
0.00003
|
NM_000484.4(APP):c.*2C>T
|
rs777073624
|
0.00003
|
NM_000500.9(CYP21A2):c.1222+8G>A
|
rs752693177
|
0.00003
|
NM_000500.9(CYP21A2):c.143A>G (p.Tyr48Cys)
|
rs566306310
|
0.00003
|
NM_000540.3(RYR1):c.2390G>A (p.Gly797Asp)
|
rs896357123
|
0.00003
|
NM_000540.3(RYR1):c.614G>C (p.Cys205Ser)
|
rs201834803
|
0.00003
|
NM_000545.8(HNF1A):c.1322C>A (p.Thr441Lys)
|
rs371544082
|
0.00003
|
NM_000548.5(TSC2):c.5266G>A (p.Glu1756Lys)
|
rs375075952
|
0.00003
|
NM_000702.4(ATP1A2):c.1891A>G (p.Ile631Val)
|
rs201977531
|
0.00003
|
NM_000702.4(ATP1A2):c.3023G>A (p.Arg1008Gln)
|
rs781023681
|
0.00003
|
NM_000751.3(CHRND):c.730C>T (p.Arg244Cys)
|
rs376642208
|
0.00003
|
NM_000784.4(CYP27A1):c.871G>A (p.Glu291Lys)
|
rs190012697
|
0.00003
|
NM_001005361.3(DNM2):c.1993G>A (p.Ala665Thr)
|
rs1262634479
|
0.00003
|
NM_001005361.3(DNM2):c.603C>T (p.Ile201=)
|
rs980931289
|
0.00003
|
NM_001009944.3(PKD1):c.11014C>T (p.Arg3672Trp)
|
rs140389000
|
0.00003
|
NM_001009944.3(PKD1):c.5173G>A (p.Ala1725Thr)
|
rs779607937
|
0.00003
|
NM_001009944.3(PKD1):c.5777C>T (p.Ala1926Val)
|
rs754890213
|
0.00003
|
NM_001009944.3(PKD1):c.7456G>A (p.Ala2486Thr)
|
rs567983155
|
0.00003
|
NM_001009944.3(PKD1):c.8394C>T (p.Gly2798=)
|
rs760811822
|
0.00003
|
NM_001009944.3(PKD1):c.9313C>T (p.Arg3105Trp)
|
rs1376608198
|
0.00003
|
NM_001039141.3(TRIOBP):c.6022C>T (p.Arg2008Trp)
|
rs772305308
|
0.00003
|
NM_001101426.4(CRPPA):c.827T>C (p.Ile276Thr)
|
rs1314571093
|
0.00003
|
NM_001110556.2(FLNA):c.1542G>C (p.Glu514Asp)
|
rs782765195
|
0.00003
|
NM_001110792.2(MECP2):c.968C>T (p.Thr323Met)
|
rs61751445
|
0.00003
|
NM_001126108.2(SLC12A3):c.1669+5G>A
|
rs779917194
|
0.00003
|
NM_001127222.2(CACNA1A):c.1534G>A (p.Glu512Lys)
|
rs375210532
|
0.00003
|
NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met)
|
rs563345694
|
0.00003
|
NM_001127222.2(CACNA1A):c.6193G>A (p.Val2065Met)
|
rs776203885
|
0.00003
|
NM_001130987.2(DYSF):c.2744C>T (p.Thr915Met)
|
rs769739410
|
0.00003
|
NM_001130987.2(DYSF):c.3506G>A (p.Arg1169His)
|
rs780134612
|
0.00003
|
NM_001130987.2(DYSF):c.5558G>A (p.Arg1853His)
|
rs372895279
|
0.00003
|
NM_001134407.3(GRIN2A):c.1007C>T (p.Pro336Leu)
|
rs757262372
|
0.00003
|
NM_001145026.2(PTPRQ):c.5103C>A (p.Thr1701=)
|
rs1175106700
|
0.00003
|
NM_001146262.4(SYT14):c.587A>G (p.Asn196Ser)
|
rs200087065
|
0.00003
|
NM_001165963.4(SCN1A):c.1220T>C (p.Ile407Thr)
|
rs398123581
|
0.00003
|
NM_001174089.2(SLC4A11):c.1049T>C (p.Ile350Thr)
|
rs370322948
|
0.00003
|
NM_001191061.2(SLC25A22):c.190G>A (p.Gly64Ser)
|
rs774766308
|
0.00003
|
NM_001242896.3(DEPDC5):c.2704G>A (p.Val902Ile)
|
rs374944205
|
0.00003
|
NM_001242896.3(DEPDC5):c.3461C>T (p.Ser1154Phe)
|
rs578244490
|
0.00003
|
NM_001244008.2(KIF1A):c.1597G>A (p.Glu533Lys)
|
rs764182180
|
0.00003
|
NM_001244008.2(KIF1A):c.3759G>A (p.Pro1253=)
|
rs777751073
|
0.00003
|
NM_001267550.2(TTN):c.105590G>A (p.Gly35197Asp)
|
rs397517796
|
0.00003
|
NM_001267550.2(TTN):c.105806C>T (p.Thr35269Ile)
|
rs1239639956
|
0.00003
|
NM_001267550.2(TTN):c.19528A>G (p.Ile6510Val)
|
rs761041978
|
0.00003
|
NM_001267550.2(TTN):c.2998C>T (p.Leu1000Phe)
|
rs140953779
|
0.00003
|
NM_001267550.2(TTN):c.34538-5T>A
|
rs771217707
|
0.00003
|
NM_001267550.2(TTN):c.36472G>T (p.Val12158Phe)
|
rs771574378
|
0.00003
|
NM_001267550.2(TTN):c.4552G>A (p.Val1518Ile)
|
rs755962102
|
0.00003
|
NM_001267550.2(TTN):c.46036C>T (p.Arg15346Cys)
|
rs767343871
|
0.00003
|
NM_001267550.2(TTN):c.50077G>A (p.Val16693Ile)
|
rs377141765
|
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.55198G>A (p.Ala18400Thr)
|
rs769472573
|
0.00003
|
NM_001267550.2(TTN):c.57332G>A (p.Arg19111Gln)
|
rs375808207
|
0.00003
|
NM_001267550.2(TTN):c.63110G>A (p.Arg21037His)
|
rs775651612
|
0.00003
|
NM_001267550.2(TTN):c.65987G>A (p.Arg21996His)
|
rs374489349
|
0.00003
|
NM_001267550.2(TTN):c.74814T>A (p.Ser24938Arg)
|
rs747593205
|
0.00003
|
NM_001267550.2(TTN):c.77093T>G (p.Val25698Gly)
|
rs759278736
|
0.00003
|
NM_001267550.2(TTN):c.81485C>T (p.Ser27162Leu)
|
rs763903239
|
0.00003
|
NM_001267550.2(TTN):c.83332G>T (p.Val27778Leu)
|
rs749009127
|
0.00003
|
NM_001267550.2(TTN):c.86120G>A (p.Gly28707Glu)
|
rs754207859
|
0.00003
|
NM_001267550.2(TTN):c.8726A>G (p.Asn2909Ser)
|
rs1300254374
|
0.00003
|
NM_001267550.2(TTN):c.88787C>G (p.Thr29596Ser)
|
rs786205371
|
0.00003
|
NM_001267550.2(TTN):c.99518G>A (p.Cys33173Tyr)
|
rs761362832
|
0.00003
|
NM_001278064.2(GRM1):c.2026G>A (p.Val676Met)
|
rs752403373
|
0.00003
|
NM_001278064.2(GRM1):c.2661-7309A>T
|
rs768023437
|
0.00003
|
NM_001278064.2(GRM1):c.2909C>T (p.Pro970Leu)
|
rs1432380664
|
0.00003
|
NM_001278064.2(GRM1):c.3554G>A (p.Arg1185Gln)
|
rs557752501
|
0.00003
|
NM_001293298.2(CEMIP):c.449C>T (p.Ala150Val)
|
rs751790405
|
0.00003
|
NM_001370298.3(FGD4):c.1961A>G (p.Gln654Arg)
|
rs199546503
|
0.00003
|
NM_001370298.3(FGD4):c.2289A>C (p.Glu763Asp)
|
rs907657345
|
0.00003
|
NM_001376.5(DYNC1H1):c.13651G>A (p.Ala4551Thr)
|
rs145366078
|
0.00003
|
NM_001378452.1(ITPR1):c.5762G>A (p.Arg1921Gln)
|
rs375223667
|
0.00003
|
NM_001378969.1(KCND3):c.1314G>A (p.Ser438=)
|
rs1247179970
|
0.00003
|
NM_001378969.1(KCND3):c.430G>A (p.Ala144Thr)
|
rs143933558
|
0.00003
|
NM_001379200.1(TBX1):c.197C>T (p.Ala66Val)
|
rs1383914204
|
0.00003
|
NM_001379200.1(TBX1):c.617C>T (p.Pro206Leu)
|
rs766608075
|
0.00003
|
NM_001384474.1(LOXHD1):c.1605A>G (p.Ile535Met)
|
rs770710016
|
0.00003
|
NM_001540.5(HSPB1):c.372C>G (p.His124Gln)
|
rs145243219
|
0.00003
|
NM_001845.6(COL4A1):c.1055C>T (p.Pro352Leu)
|
rs200786329
|
0.00003
|
NM_001961.4(EEF2):c.1088C>T (p.Thr363Met)
|
rs980260154
|
0.00003
|
NM_002087.4(GRN):c.1112G>C (p.Ser371Thr)
|
rs149023078
|
0.00003
|
NM_002160.4(TNC):c.2404C>T (p.Arg802Cys)
|
rs756735994
|
0.00003
|
NM_002693.3(POLG):c.1498G>A (p.Ala500Thr)
|
rs745506700
|
0.00003
|
NM_002693.3(POLG):c.1637G>A (p.Arg546His)
|
rs773418477
|
0.00003
|
NM_002693.3(POLG):c.1780C>T (p.Leu594=)
|
rs778172428
|
0.00003
|
NM_002693.3(POLG):c.2027C>T (p.Ala676Val)
|
rs376306906
|
0.00003
|
NM_002693.3(POLG):c.2111A>C (p.Lys704Thr)
|
rs1049107490
|
0.00003
|
NM_002693.3(POLG):c.2596C>T (p.Arg866Trp)
|
rs748777396
|
0.00003
|
NM_002693.3(POLG):c.3239G>C (p.Ser1080Thr)
|
rs779956099
|
0.00003
|
NM_002693.3(POLG):c.3445G>A (p.Ala1149Thr)
|
rs879135314
|
0.00003
|
NM_002693.3(POLG):c.388C>T (p.Leu130Phe)
|
rs201261842
|
0.00003
|
NM_002739.5(PRKCG):c.866C>A (p.Pro289Gln)
|
rs376704133
|
0.00003
|
NM_003850.3(SUCLA2):c.80C>T (p.Ala27Val)
|
rs368407554
|
0.00003
|
NM_003900.5(SQSTM1):c.416G>A (p.Arg139His)
|
rs758090054
|
0.00003
|
NM_004004.6(GJB2):c.476A>T (p.Asp159Val)
|
rs28931592
|
0.00003
|
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu)
|
rs397516878
|
0.00003
|
NM_004006.3(DMD):c.2069C>T (p.Thr690Ile)
|
rs762475657
|
0.00003
|
NM_004006.3(DMD):c.2102A>C (p.Glu701Ala)
|
rs772229363
|
0.00003
|
NM_004006.3(DMD):c.8828C>T (p.Thr2943Met)
|
rs751810893
|
0.00003
|
NM_004172.5(SLC1A3):c.227G>A (p.Arg76Gln)
|
rs148490778
|
0.00003
|
NM_004172.5(SLC1A3):c.940C>A (p.Leu314Ile)
|
rs966200792
|
0.00003
|
NM_004287.5(GOSR2):c.57G>A (p.Met19Ile)
|
rs369247929
|
0.00003
|
NM_004320.6(ATP2A1):c.1283A>G (p.Asn428Ser)
|
rs138267146
|
0.00003
|
NM_004369.4(COL6A3):c.6224C>T (p.Pro2075Leu)
|
rs113331139
|
0.00003
|
NM_004526.4(MCM2):c.2608C>T (p.Arg870Cys)
|
rs773391587
|
0.00003
|
NM_004637.6(RAB7A):c.551A>G (p.Asn184Ser)
|
rs752824265
|
0.00003
|
NM_005045.4(RELN):c.2938G>C (p.Ala980Pro)
|
rs373969392
|
0.00003
|
NM_005051.3(QARS1):c.1607G>C (p.Cys536Ser)
|
rs771579029
|
0.00003
|
NM_005051.3(QARS1):c.1612C>T (p.Arg538Trp)
|
rs201176263
|
0.00003
|
NM_005051.3(QARS1):c.674G>A (p.Arg225Gln)
|
rs138456917
|
0.00003
|
NM_005529.7(HSPG2):c.10336G>A (p.Val3446Met)
|
rs573946760
|
0.00003
|
NM_005529.7(HSPG2):c.11546G>C (p.Arg3849Pro)
|
rs144525987
|
0.00003
|
NM_005529.7(HSPG2):c.11975G>A (p.Arg3992His)
|
rs764827758
|
0.00003
|
NM_005529.7(HSPG2):c.1495G>A (p.Val499Ile)
|
rs376748881
|
0.00003
|
NM_005529.7(HSPG2):c.2791C>G (p.Arg931Gly)
|
rs141852442
|
0.00003
|
NM_005529.7(HSPG2):c.3875A>G (p.Gln1292Arg)
|
rs764233594
|
0.00003
|
NM_005529.7(HSPG2):c.6464G>A (p.Arg2155His)
|
rs575744546
|
0.00003
|
NM_005529.7(HSPG2):c.7750C>T (p.Arg2584Trp)
|
rs760052323
|
0.00003
|
NM_005529.7(HSPG2):c.9421C>T (p.Arg3141Cys)
|
rs560125766
|
0.00003
|
NM_005529.7(HSPG2):c.9859G>A (p.Ala3287Thr)
|
rs149276709
|
0.00003
|
NM_005591.4(MRE11):c.476T>C (p.Val159Ala)
|
rs140130291
|
0.00003
|
NM_005912.3(MC4R):c.691G>A (p.Gly231Ser)
|
rs1363347811
|
0.00003
|
NM_006005.3(WFS1):c.133G>A (p.Gly45Arg)
|
rs1014892217
|
0.00003
|
NM_006030.4(CACNA2D2):c.998A>G (p.Asn333Ser)
|
rs779326054
|
0.00003
|
NM_006790.3(MYOT):c.182A>C (p.His61Pro)
|
rs372276337
|
0.00003
|
NM_006796.3(AFG3L2):c.292+2T>C
|
rs779805236
|
0.00003
|
NM_006859.4(LIAS):c.376G>A (p.Ala126Thr)
|
rs74528014
|
0.00003
|
NM_006946.4(SPTBN2):c.1160G>A (p.Arg387His)
|
rs772590586
|
0.00003
|
NM_006946.4(SPTBN2):c.1303G>A (p.Ala435Thr)
|
rs751975483
|
0.00003
|
NM_006946.4(SPTBN2):c.1882G>A (p.Glu628Lys)
|
rs1027470381
|
0.00003
|
NM_006946.4(SPTBN2):c.3248G>A (p.Arg1083His)
|
rs367949397
|
0.00003
|
NM_006946.4(SPTBN2):c.4648C>T (p.Arg1550Trp)
|
rs757086442
|
0.00003
|
NM_006946.4(SPTBN2):c.5826G>A (p.Ala1942=)
|
rs373276784
|
0.00003
|
NM_006946.4(SPTBN2):c.5939C>A (p.Ala1980Glu)
|
rs750934185
|
0.00003
|
NM_006946.4(SPTBN2):c.6591C>T (p.Ser2197=)
|
rs778388054
|
0.00003
|
NM_006996.3(SLC19A2):c.1291G>T (p.Ala431Ser)
|
rs746375841
|
0.00003
|
NM_012301.4(MAGI2):c.826G>A (p.Val276Met)
|
rs369905248
|
0.00003
|
NM_012463.4(ATP6V0A2):c.1014G>A (p.Leu338=)
|
rs917452697
|
0.00003
|
NM_014053.4(FLVCR1):c.346C>T (p.Leu116=)
|
rs150645228
|
0.00003
|
NM_014053.4(FLVCR1):c.49C>G (p.Pro17Ala)
|
rs543847452
|
0.00003
|
NM_014053.4(FLVCR1):c.987T>G (p.Phe329Leu)
|
rs762546149
|
0.00003
|
NM_014141.6(CNTNAP2):c.3833C>T (p.Thr1278Ile)
|
rs760047247
|
0.00003
|
NM_014231.5(VAMP1):c.299T>C (p.Met100Thr)
|
rs901075787
|
0.00003
|
NM_014254.3(RXYLT1):c.77A>G (p.His26Arg)
|
rs1019967024
|
0.00003
|
NM_014363.6(SACS):c.10181A>G (p.Asn3394Ser)
|
rs375898103
|
0.00003
|
NM_014363.6(SACS):c.10205A>G (p.Asp3402Gly)
|
rs543563990
|
0.00003
|
NM_014363.6(SACS):c.10255C>T (p.Arg3419Cys)
|
rs765758197
|
0.00003
|
NM_014363.6(SACS):c.10675C>G (p.Pro3559Ala)
|
rs767704103
|
0.00003
|
NM_014363.6(SACS):c.10787C>T (p.Ser3596Phe)
|
rs755172172
|
0.00003
|
NM_014363.6(SACS):c.11309C>G (p.Ala3770Gly)
|
rs1170997950
|
0.00003
|
NM_014363.6(SACS):c.11886A>G (p.Ile3962Met)
|
rs1252737332
|
0.00003
|
NM_014363.6(SACS):c.2853C>A (p.His951Gln)
|
rs200644511
|
0.00003
|
NM_014363.6(SACS):c.4318A>G (p.Ser1440Gly)
|
rs1172044277
|
0.00003
|
NM_014363.6(SACS):c.8539C>G (p.Leu2847Val)
|
rs760976439
|
0.00003
|
NM_014845.6(FIG4):c.14C>T (p.Ala5Val)
|
rs915749340
|
0.00003
|
NM_014845.6(FIG4):c.2360G>A (p.Ser787Asn)
|
rs377017892
|
0.00003
|
NM_014846.4(WASHC5):c.2327G>A (p.Arg776His)
|
rs750463169
|
0.00003
|
NM_014855.3(AP5Z1):c.176G>A (p.Arg59Gln)
|
rs200423282
|
0.00003
|
NM_014855.3(AP5Z1):c.2018C>T (p.Ala673Val)
|
rs754422151
|
0.00003
|
NM_014874.4(MFN2):c.1759C>T (p.Pro587Ser)
|
rs771675874
|
0.00003
|
NM_015046.7(SETX):c.2390A>G (p.Lys797Arg)
|
rs1273786747
|
0.00003
|
NM_015046.7(SETX):c.2755G>C (p.Val919Leu)
|
rs561190371
|
0.00003
|
NM_015046.7(SETX):c.5071C>A (p.Leu1691Ile)
|
rs756770572
|
0.00003
|
NM_015046.7(SETX):c.5591A>C (p.Gln1864Pro)
|
rs375747001
|
0.00003
|
NM_015046.7(SETX):c.6085A>G (p.Lys2029Glu)
|
rs746525639
|
0.00003
|
NM_015346.4(ZFYVE26):c.361G>A (p.Glu121Lys)
|
rs201229339
|
0.00003
|
NM_015404.4(WHRN):c.827A>T (p.Asp276Val)
|
rs143202640
|
0.00003
|
NM_016156.6(MTMR2):c.1523T>C (p.Ile508Thr)
|
rs769280444
|
0.00003
|
NM_018075.5(ANO10):c.1559C>T (p.Ala520Val)
|
rs150026260
|
0.00003
|
NM_018075.5(ANO10):c.989T>G (p.Leu330Arg)
|
rs1024962328
|
0.00003
|
NM_018100.4(EFHC1):c.668A>G (p.Tyr223Cys)
|
rs1307612935
|
0.00003
|
NM_018109.4(MTPAP):c.468G>C (p.Gln156His)
|
rs547303023
|
0.00003
|
NM_018136.5(ASPM):c.5603G>A (p.Arg1868Lys)
|
rs761106315
|
0.00003
|
NM_018319.4(TDP1):c.1799C>T (p.Thr600Met)
|
rs772139596
|
0.00003
|
NM_018319.4(TDP1):c.716A>G (p.His239Arg)
|
rs750038981
|
0.00003
|
NM_018429.3(BDP1):c.1060A>G (p.Lys354Glu)
|
rs756650377
|
0.00003
|
NM_020247.5(COQ8A):c.1097A>G (p.Gln366Arg)
|
rs759470563
|
0.00003
|
NM_020247.5(COQ8A):c.1132G>A (p.Val378Met)
|
rs375821684
|
0.00003
|
NM_020247.5(COQ8A):c.1247G>A (p.Arg416His)
|
rs767899984
|
0.00003
|
NM_020247.5(COQ8A):c.771G>A (p.Glu257=)
|
rs371867831
|
0.00003
|
NM_020361.5(CPA6):c.505T>C (p.Tyr169His)
|
rs201643526
|
0.00003
|
NM_020451.3(SELENON):c.1249C>T (p.Arg417Cys)
|
rs769840172
|
0.00003
|
NM_020549.5(CHAT):c.1635-5C>A
|
rs776745899
|
0.00003
|
NM_020822.3(KCNT1):c.2045G>A (p.Arg682Gln)
|
rs1188425438
|
0.00003
|
NM_020919.4(ALS2):c.3416G>A (p.Arg1139Gln)
|
rs761444982
|
0.00003
|
NM_021098.3(CACNA1H):c.1799C>T (p.Ala600Val)
|
rs759349379
|
0.00003
|
NM_021098.3(CACNA1H):c.940C>T (p.Pro314Ser)
|
rs200943355
|
0.00003
|
NM_021830.5(TWNK):c.1802G>A (p.Arg601Gln)
|
rs141315771
|
0.00003
|
NM_022089.4(ATP13A2):c.3059A>G (p.Tyr1020Cys)
|
rs372182128
|
0.00003
|
NM_022124.6(CDH23):c.1543A>G (p.Ile515Val)
|
rs727504914
|
0.00003
|
NM_022464.5(SIL1):c.1321G>A (p.Glu441Lys)
|
rs779649580
|
0.00003
|
NM_022464.5(SIL1):c.355C>G (p.Leu119Val)
|
rs758512287
|
0.00003
|
NM_022464.5(SIL1):c.937C>A (p.Leu313Met)
|
rs374933348
|
0.00003
|
NM_024577.4(SH3TC2):c.2861G>A (p.Arg954Gln)
|
rs776426059
|
0.00003
|
NM_024678.6(NARS2):c.122G>A (p.Gly41Glu)
|
rs1367741605
|
0.00003
|
NM_025137.4(SPG11):c.3551G>T (p.Ser1184Ile)
|
rs766403944
|
0.00003
|
NM_025137.4(SPG11):c.6028G>T (p.Asp2010Tyr)
|
rs1060501171
|
0.00003
|
NM_030962.4(SBF2):c.2807-3C>T
|
rs375252298
|
0.00003
|
NM_030962.4(SBF2):c.3376A>T (p.Ile1126Leu)
|
rs747669195
|
0.00003
|
NM_030962.4(SBF2):c.56G>T (p.Gly19Val)
|
rs375560902
|
0.00003
|
NM_031844.3(HNRNPU):c.1259C>T (p.Ser420Leu)
|
rs778010676
|
0.00003
|
NM_032119.4(ADGRV1):c.13765G>A (p.Val4589Met)
|
rs375258567
|
0.00003
|
NM_032119.4(ADGRV1):c.15830G>A (p.Arg5277His)
|
rs747856236
|
0.00003
|
NM_032119.4(ADGRV1):c.17108G>A (p.Arg5703His)
|
rs201073459
|
0.00003
|
NM_032634.4(PIGO):c.1013G>A (p.Gly338Glu)
|
rs749274989
|
0.00003
|
NM_033305.3(VPS13A):c.7340A>G (p.Tyr2447Cys)
|
rs574650880
|
0.00003
|
NM_145239.3(PRRT2):c.755C>G (p.Ala252Gly)
|
rs1053144630
|
0.00003
|
NM_152743.4(BRAT1):c.346G>A (p.Val116Ile)
|
rs750543404
|
0.00003
|
NM_152743.4(BRAT1):c.811G>A (p.Val271Met)
|
rs746527927
|
0.00003
|
NM_153700.2(STRC):c.4237A>T (p.Thr1413Ser)
|
rs754834213
|
0.00003
|
NM_170707.4(LMNA):c.1001G>A (p.Ser334Asn)
|
rs370656306
|
0.00003
|
NM_170707.4(LMNA):c.1007G>A (p.Arg336Gln)
|
rs58105277
|
0.00003
|
NM_172107.4(KCNQ2):c.1301+6G>A
|
rs377304987
|
0.00003
|
NM_173500.4(TTBK2):c.1060G>A (p.Asp354Asn)
|
rs748178741
|
0.00003
|
NM_173500.4(TTBK2):c.187A>G (p.Met63Val)
|
rs749472718
|
0.00003
|
NM_175914.5(HNF4A):c.53C>T (p.Thr18Met)
|
rs199796094
|
0.00003
|
NM_176787.5(PIGN):c.1418T>C (p.Val473Ala)
|
rs922043983
|
0.00003
|
NM_177924.5(ASAH1):c.622G>A (p.Val208Met)
|
rs774912301
|
0.00003
|
NM_181882.3(PRX):c.1752G>C (p.Glu584Asp)
|
rs759029769
|
0.00003
|
NM_181882.3(PRX):c.2450G>A (p.Arg817His)
|
rs149241078
|
0.00003
|
NM_181882.3(PRX):c.4334C>T (p.Thr1445Ile)
|
rs746338096
|
0.00003
|
NM_181882.3(PRX):c.899T>C (p.Leu300Ser)
|
rs748380935
|
0.00003
|
NM_182914.3(SYNE2):c.15792G>C (p.Gln5264His)
|
rs368363575
|
0.00003
|
NM_182914.3(SYNE2):c.16480-10C>G
|
rs768388576
|
0.00003
|
NM_182914.3(SYNE2):c.17862G>T (p.Lys5954Asn)
|
rs146016022
|
0.00003
|
NM_182914.3(SYNE2):c.18541-7G>A
|
rs368396657
|
0.00003
|
NM_182961.4(SYNE1):c.10268G>A (p.Arg3423Gln)
|
rs139691734
|
0.00003
|
NM_182961.4(SYNE1):c.10726C>T (p.Arg3576Trp)
|
rs777447487
|
0.00003
|
NM_182961.4(SYNE1):c.13918T>C (p.Tyr4640His)
|
rs748256440
|
0.00003
|
NM_182961.4(SYNE1):c.15986A>C (p.Glu5329Ala)
|
rs886044412
|
0.00003
|
NM_182961.4(SYNE1):c.16132G>T (p.Ala5378Ser)
|
rs374220794
|
0.00003
|
NM_182961.4(SYNE1):c.18194G>A (p.Arg6065Gln)
|
rs777432650
|
0.00003
|
NM_182961.4(SYNE1):c.18622C>G (p.Gln6208Glu)
|
rs558425673
|
0.00003
|
NM_182961.4(SYNE1):c.18930G>T (p.Gln6310His)
|
rs759556319
|
0.00003
|
NM_182961.4(SYNE1):c.18952G>A (p.Glu6318Lys)
|
rs758182381
|
0.00003
|
NM_182961.4(SYNE1):c.19039G>A (p.Asp6347Asn)
|
rs368068433
|
0.00003
|
NM_182961.4(SYNE1):c.21815A>G (p.Lys7272Arg)
|
rs764715827
|
0.00003
|
NM_182961.4(SYNE1):c.2386C>G (p.Leu796Val)
|
rs1055043180
|
0.00003
|
NM_182961.4(SYNE1):c.24161C>T (p.Thr8054Met)
|
rs771177928
|
0.00003
|
NM_182961.4(SYNE1):c.244C>T (p.Arg82Trp)
|
rs772761179
|
0.00003
|
NM_182961.4(SYNE1):c.24802G>A (p.Glu8268Lys)
|
rs527527845
|
0.00003
|
NM_182961.4(SYNE1):c.24959G>A (p.Gly8320Glu)
|
rs748328529
|
0.00003
|
NM_182961.4(SYNE1):c.25135G>A (p.Glu8379Lys)
|
rs531559372
|
0.00003
|
NM_182961.4(SYNE1):c.3911G>C (p.Gly1304Ala)
|
rs141164314
|
0.00003
|
NM_182961.4(SYNE1):c.4670T>G (p.Phe1557Cys)
|
rs373642960
|
0.00003
|
NM_182961.4(SYNE1):c.4735A>G (p.Ile1579Val)
|
rs138691290
|
0.00003
|
NM_182961.4(SYNE1):c.6984G>A (p.Met2328Ile)
|
rs372524102
|
0.00003
|
NM_182961.4(SYNE1):c.7277A>C (p.Lys2426Thr)
|
rs764200857
|
0.00003
|
NM_182961.4(SYNE1):c.9679G>A (p.Glu3227Lys)
|
rs1024177161
|
0.00003
|
NM_182961.4(SYNE1):c.9959C>T (p.Thr3320Met)
|
rs548283137
|
0.00003
|
NM_198578.4(LRRK2):c.7300A>G (p.Ile2434Val)
|
rs398124661
|
0.00003
|
NM_198994.3(TGM6):c.621C>A (p.Asp207Glu)
|
rs148696208
|
0.00003
|
NM_201384.3(PLEC):c.11605G>A (p.Gly3869Ser)
|
rs782123116
|
0.00003
|
NM_201384.3(PLEC):c.3619C>T (p.Arg1207Cys)
|
rs782816670
|
0.00003
|
NM_201384.3(PLEC):c.797C>T (p.Pro266Leu)
|
rs782324328
|
0.00003
|
NM_201384.3(PLEC):c.8620G>T (p.Asp2874Tyr)
|
rs369356119
|
0.00003
|
NM_201525.4(ADGRG1):c.1798T>C (p.Trp600Arg)
|
rs1414923097
|
0.00003
|
NM_206933.4(USH2A):c.10358C>G (p.Thr3453Arg)
|
rs375485721
|
0.00003
|
NM_000021.4(PSEN1):c.1309A>G (p.Ile437Val)
|
rs764971634
|
0.00002
|
NM_000023.4(SGCA):c.242G>A (p.Arg81His)
|
rs747984529
|
0.00002
|
NM_000051.4(ATM):c.3071C>T (p.Ala1024Val)
|
rs746133264
|
0.00002
|
NM_000051.4(ATM):c.4201T>A (p.Leu1401Ile)
|
rs587779838
|
0.00002
|
NM_000051.4(ATM):c.4856G>A (p.Arg1619Lys)
|
rs730881393
|
0.00002
|
NM_000051.4(ATM):c.5009C>T (p.Ala1670Val)
|
rs375131360
|
0.00002
|
NM_000051.4(ATM):c.518G>T (p.Arg173Met)
|
rs372694758
|
0.00002
|
NM_000051.4(ATM):c.5612C>T (p.Thr1871Ile)
|
rs538452060
|
0.00002
|
NM_000051.4(ATM):c.5753G>C (p.Arg1918Thr)
|
rs148064985
|
0.00002
|
NM_000051.4(ATM):c.6814G>A (p.Glu2272Lys)
|
rs886039471
|
0.00002
|
NM_000051.4(ATM):c.7358G>A (p.Arg2453His)
|
rs587781361
|
0.00002
|
NM_000051.4(ATM):c.8405A>G (p.Gln2802Arg)
|
rs730881324
|
0.00002
|
NM_000051.4(ATM):c.8520G>C (p.Leu2840Phe)
|
rs752652869
|
0.00002
|
NM_000051.4(ATM):c.95G>A (p.Arg32His)
|
rs368161489
|
0.00002
|
NM_000069.3(CACNA1S):c.758G>A (p.Arg253Gln)
|
rs768015104
|
0.00002
|
NM_000070.3(CAPN3):c.648C>T (p.Tyr216=)
|
rs138846390
|
0.00002
|
NM_000080.4(CHRNE):c.1211C>T (p.Thr404Ile)
|
rs747853975
|
0.00002
|
NM_000080.4(CHRNE):c.16C>T (p.Leu6Phe)
|
rs746521766
|
0.00002
|
NM_000083.3(CLCN1):c.1342G>A (p.Val448Met)
|
rs200371691
|
0.00002
|
NM_000083.3(CLCN1):c.2108G>C (p.Gly703Ala)
|
rs1428234081
|
0.00002
|
NM_000089.4(COL1A2):c.2959G>A (p.Val987Ile)
|
rs752207083
|
0.00002
|
NM_000098.3(CPT2):c.1448T>C (p.Val483Ala)
|
rs1324631593
|
0.00002
|
NM_000110.4(DPYD):c.2599C>T (p.Arg867Cys)
|
rs557220418
|
0.00002
|
NM_000144.5(FXN):c.356C>T (p.Thr119Met)
|
rs757847415
|
0.00002
|
NM_000166.6(GJB1):c.-27C>T
|
rs879254157
|
0.00002
|
NM_000209.4(PDX1):c.8G>C (p.Gly3Ala)
|
rs1380564366
|
0.00002
|
NM_000217.3(KCNA1):c.61G>A (p.Asp21Asn)
|
rs747465523
|
0.00002
|
NM_000238.4(KCNH2):c.1459G>A (p.Gly487Ser)
|
rs562875924
|
0.00002
|
NM_000260.4(MYO7A):c.3503+10G>A
|
rs782049232
|
0.00002
|
NM_000260.4(MYO7A):c.5327-10C>T
|
rs781062618
|
0.00002
|
NM_000304.4(PMP22):c.255C>G (p.Cys85Trp)
|
rs755701957
|
0.00002
|
NM_000334.4(SCN4A):c.1378G>A (p.Glu460Lys)
|
rs540596321
|
0.00002
|
NM_000334.4(SCN4A):c.2207A>G (p.Asp736Gly)
|
rs1397719163
|
0.00002
|
NM_000334.4(SCN4A):c.3622G>C (p.Glu1208Gln)
|
rs754401226
|
0.00002
|
NM_000334.4(SCN4A):c.4052C>T (p.Thr1351Met)
|
rs545724550
|
0.00002
|
NM_000334.4(SCN4A):c.4949C>T (p.Pro1650Leu)
|
rs774183791
|
0.00002
|
NM_000334.4(SCN4A):c.757G>A (p.Val253Met)
|
rs772899378
|
0.00002
|
NM_000334.4(SCN4A):c.766C>T (p.Leu256Phe)
|
rs764694733
|
0.00002
|
NM_000368.5(TSC1):c.2065C>T (p.Arg689Cys)
|
rs202241429
|
0.00002
|
NM_000368.5(TSC1):c.917G>A (p.Cys306Tyr)
|
rs752290177
|
0.00002
|
NM_000388.4(CASR):c.220A>C (p.Met74Leu)
|
rs745377913
|
0.00002
|
NM_000435.3(NOTCH3):c.1375G>A (p.Ala459Thr)
|
rs370186772
|
0.00002
|
NM_000435.3(NOTCH3):c.319C>T (p.Arg107Trp)
|
rs768965053
|
0.00002
|
NM_000435.3(NOTCH3):c.925G>A (p.Glu309Lys)
|
rs1386908989
|
0.00002
|
NM_000451.4(SHOX):c.*5C>T
|
rs1288254860
|
0.00002
|
NM_000454.5(SOD1):c.289G>A (p.Asp97Asn)
|
rs121912459
|
0.00002
|
NM_000458.4(HNF1B):c.1390G>A (p.Gly464Ser)
|
rs982085453
|
0.00002
|
NM_000458.4(HNF1B):c.314A>G (p.Glu105Gly)
|
rs375625110
|
0.00002
|
NM_000489.6(ATRX):c.1474G>A (p.Glu492Lys)
|
rs1418531949
|
0.00002
|
NM_000497.4(CYP11B1):c.1443A>G (p.Ile481Met)
|
rs778584104
|
0.00002
|
NM_000500.9(CYP21A2):c.89T>A (p.Leu30His)
|
rs1303387085
|
0.00002
|
NM_000525.4(KCNJ11):c.1040G>A (p.Arg347His)
|
rs771797701
|
0.00002
|
NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile)
|
rs193922797
|
0.00002
|
NM_000545.8(HNF1A):c.125G>A (p.Gly42Asp)
|
rs1261968643
|
0.00002
|
NM_000548.5(TSC2):c.4030G>A (p.Glu1344Lys)
|
rs397515035
|
0.00002
|
NM_000548.5(TSC2):c.4349C>G (p.Pro1450Arg)
|
rs45517338
|
0.00002
|
NM_000548.5(TSC2):c.4418A>G (p.Lys1473Arg)
|
rs1219556604
|
0.00002
|
NM_000702.4(ATP1A2):c.2977C>T (p.Leu993Phe)
|
rs1303848624
|
0.00002
|
NM_000726.5(CACNB4):c.571A>T (p.Thr191Ser)
|
rs746415223
|
0.00002
|
NM_000747.3(CHRNB1):c.26T>C (p.Leu9Pro)
|
rs1157224283
|
0.00002
|
NM_000784.4(CYP27A1):c.1148T>A (p.Met383Lys)
|
rs539356203
|
0.00002
|
NM_000815.5(GABRD):c.1105G>A (p.Gly369Ser)
|
rs759836961
|
0.00002
|
NM_001008212.2(OPTN):c.1330A>G (p.Met444Val)
|
rs900961302
|
0.00002
|
NM_001009944.3(PKD1):c.3736G>A (p.Asp1246Asn)
|
rs553360241
|
0.00002
|
NM_001009944.3(PKD1):c.4189G>A (p.Glu1397Lys)
|
rs755462601
|
0.00002
|
NM_001009944.3(PKD1):c.7479C>G (p.Phe2493Leu)
|
rs752349510
|
0.00002
|
NM_001009944.3(PKD1):c.9454C>T (p.Arg3152Trp)
|
rs776866974
|
0.00002
|
NM_001039213.4(CEACAM16):c.707C>A (p.Thr236Lys)
|
rs780505743
|
0.00002
|
NM_001042492.3(NF1):c.1955G>A (p.Arg652His)
|
rs587778549
|
0.00002
|
NM_001042492.3(NF1):c.4958G>A (p.Arg1653His)
|
rs763413441
|
0.00002
|
NM_001077365.2(POMT1):c.1729A>G (p.Ile577Val)
|
rs749978093
|
0.00002
|
NM_001077365.2(POMT1):c.699+14T>A
|
rs370038491
|
0.00002
|
NM_001077365.2(POMT1):c.817G>A (p.Asp273Asn)
|
rs754611085
|
0.00002
|
NM_001079802.2(FKTN):c.188T>C (p.Met63Thr)
|
rs772840681
|
0.00002
|
NM_001126108.2(SLC12A3):c.1049C>T (p.Ser350Leu)
|
rs778585043
|
0.00002
|
NM_001126108.2(SLC12A3):c.760G>A (p.Val254Met)
|
rs751725614
|
0.00002
|
NM_001127222.2(CACNA1A):c.1142G>A (p.Arg381Gln)
|
rs772354342
|
0.00002
|
NM_001127222.2(CACNA1A):c.2729T>G (p.Leu910Arg)
|
rs953766694
|
0.00002
|
NM_001127222.2(CACNA1A):c.3421G>A (p.Glu1141Lys)
|
rs780535727
|
0.00002
|
NM_001127222.2(CACNA1A):c.5986A>G (p.Thr1996Ala)
|
rs141963371
|
0.00002
|
NM_001127222.2(CACNA1A):c.6220G>A (p.Gly2074Ser)
|
rs376910068
|
0.00002
|
NM_001127222.2(CACNA1A):c.6340-7C>A
|
rs765609971
|
0.00002
|
NM_001127222.2(CACNA1A):c.6464G>T (p.Arg2155Leu)
|
rs572722130
|
0.00002
|
NM_001127222.2(CACNA1A):c.6467G>A (p.Arg2156His)
|
rs755749925
|
0.00002
|
NM_001127644.2(GABRA1):c.1234A>T (p.Thr412Ser)
|
rs1229633395
|
0.00002
|
NM_001130987.2(DYSF):c.2821G>A (p.Gly941Ser)
|
rs747089235
|
0.00002
|
NM_001130987.2(DYSF):c.6208C>G (p.Pro2070Ala)
|
rs778611782
|
0.00002
|
NM_001130987.2(DYSF):c.785G>A (p.Arg262His)
|
rs764849844
|
0.00002
|
NM_001136472.2(LITAF):c.478C>T (p.Arg160Cys)
|
rs748017885
|
0.00002
|
NM_001145809.2(MYH14):c.1834G>A (p.Asp612Asn)
|
rs571071269
|
0.00002
|
NM_001146262.4(SYT14):c.1724G>A (p.Ter575=)
|
rs1482516941
|
0.00002
|
NM_001146262.4(SYT14):c.392C>G (p.Pro131Arg)
|
rs1192775388
|
0.00002
|
NM_001164508.2(NEB):c.734G>T (p.Gly245Val)
|
rs765569689
|
0.00002
|
NM_001166114.2(PNPLA6):c.649G>A (p.Gly217Ser)
|
rs150620708
|
0.00002
|
NM_001195248.2(APTX):c.396T>A (p.Ala132=)
|
rs753537901
|
0.00002
|
NM_001195248.2(APTX):c.710A>G (p.Asp237Gly)
|
rs749338153
|
0.00002
|
NM_001195248.2(APTX):c.86G>A (p.Arg29His)
|
rs766690500
|
0.00002
|
NM_001199107.2(TBC1D24):c.485A>G (p.Asn162Ser)
|
rs772054145
|
0.00002
|
NM_001244008.2(KIF1A):c.2481C>T (p.Arg827=)
|
rs371444142
|
0.00002
|
NM_001244008.2(KIF1A):c.2680G>A (p.Asp894Asn)
|
rs1064796756
|
0.00002
|
NM_001244008.2(KIF1A):c.5015G>A (p.Arg1672Gln)
|
rs761974755
|
0.00002
|
NM_001267550.2(TTN):c.102614G>A (p.Gly34205Asp)
|
rs367926247
|
0.00002
|
NM_001267550.2(TTN):c.10270C>A (p.Gln3424Lys)
|
rs370865998
|
0.00002
|
NM_001267550.2(TTN):c.11032C>G (p.Gln3678Glu)
|
rs552438291
|
0.00002
|
NM_001267550.2(TTN):c.14873A>G (p.Tyr4958Cys)
|
rs530572005
|
0.00002
|
NM_001267550.2(TTN):c.19855A>G (p.Lys6619Glu)
|
rs1060500450
|
0.00002
|
NM_001267550.2(TTN):c.21907G>A (p.Glu7303Lys)
|
rs774950387
|
0.00002
|
NM_001267550.2(TTN):c.26744C>G (p.Ala8915Gly)
|
rs536974988
|
0.00002
|
NM_001267550.2(TTN):c.46564G>C (p.Gly15522Arg)
|
rs750435043
|
0.00002
|
NM_001267550.2(TTN):c.52010G>A (p.Arg17337Gln)
|
rs775700218
|
0.00002
|
NM_001267550.2(TTN):c.59876G>A (p.Arg19959His)
|
rs748120315
|
0.00002
|
NM_001267550.2(TTN):c.60623T>C (p.Ile20208Thr)
|
rs752768925
|
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.66902A>G (p.Asn22301Ser)
|
rs772823241
|
0.00002
|
NM_001267550.2(TTN):c.67496G>A (p.Arg22499Gln)
|
rs767993624
|
0.00002
|
NM_001267550.2(TTN):c.68503C>G (p.Pro22835Ala)
|
rs750857565
|
0.00002
|
NM_001267550.2(TTN):c.68632G>A (p.Val22878Met)
|
rs764263517
|
0.00002
|
NM_001267550.2(TTN):c.79487T>C (p.Ile26496Thr)
|
rs749600987
|
0.00002
|
NM_001267550.2(TTN):c.85477A>G (p.Thr28493Ala)
|
rs369907507
|
0.00002
|
NM_001267550.2(TTN):c.87253C>T (p.Leu29085Phe)
|
rs376026291
|
0.00002
|
NM_001267550.2(TTN):c.91343G>A (p.Arg30448His)
|
rs374474227
|
0.00002
|
NM_001267550.2(TTN):c.99415A>G (p.Lys33139Glu)
|
rs779723670
|
0.00002
|
NM_001278116.2(L1CAM):c.3326G>A (p.Arg1109His)
|
rs782420127
|
0.00002
|
NM_001289808.2(CRYAB):c.85G>C (p.Gly29Arg)
|
rs148500053
|
0.00002
|
NM_001347721.2(DYRK1A):c.1705A>G (p.Thr569Ala)
|
rs774075762
|
0.00002
|
NM_001365999.1(SZT2):c.1000G>T (p.Gly334Cys)
|
rs918688605
|
0.00002
|
NM_001371279.1(REEP1):c.408T>A (p.Ala136=)
|
rs368965566
|
0.00002
|
NM_001371596.2(MFSD8):c.1107G>C (p.Leu369Phe)
|
rs747197852
|
0.00002
|
NM_001371727.1(GABRB2):c.1202A>G (p.His401Arg)
|
rs1435021718
|
0.00002
|
NM_001378452.1(ITPR1):c.634G>A (p.Val212Ile)
|
rs774735244
|
0.00002
|
NM_001458.5(FLNC):c.3499C>T (p.Arg1167Cys)
|
rs766439553
|
0.00002
|
NM_001845.6(COL4A1):c.1056G>A (p.Pro352=)
|
rs531373470
|
0.00002
|
NM_001848.3(COL6A1):c.352G>A (p.Asp118Asn)
|
rs747665716
|
0.00002
|
NM_001961.4(EEF2):c.1702A>G (p.Ile568Val)
|
rs773849734
|
0.00002
|
NM_002055.5(GFAP):c.626G>A (p.Arg209Gln)
|
rs771699440
|
0.00002
|
NM_002087.4(GRN):c.836-3C>T
|
rs771907059
|
0.00002
|
NM_002303.6(LEPR):c.1652T>A (p.Ile551Asn)
|
rs755235061
|
0.00002
|
NM_002529.4(NTRK1):c.1037T>C (p.Leu346Pro)
|
rs150651692
|
0.00002
|
NM_002693.3(POLG):c.1250+5G>T
|
rs751221993
|
0.00002
|
NM_002693.3(POLG):c.1613A>C (p.Glu538Ala)
|
rs767216577
|
0.00002
|
NM_002693.3(POLG):c.1735C>T (p.Arg579Trp)
|
rs556925652
|
0.00002
|
NM_002693.3(POLG):c.1808T>C (p.Met603Thr)
|
rs367610201
|
0.00002
|
NM_002693.3(POLG):c.1889A>G (p.Asn630Ser)
|
rs796052905
|
0.00002
|
NM_002693.3(POLG):c.2368C>T (p.Arg790Cys)
|
rs775168496
|
0.00002
|
NM_002693.3(POLG):c.2998G>A (p.Glu1000Lys)
|
rs1412887168
|
0.00002
|
NM_002693.3(POLG):c.3266A>G (p.Gln1089Arg)
|
rs369716454
|
0.00002
|
NM_002700.3(POU4F3):c.103T>C (p.Cys35Arg)
|
rs147927112
|
0.00002
|
NM_002739.5(PRKCG):c.613C>T (p.Arg205Trp)
|
rs367543208
|
0.00002
|
NM_003119.4(SPG7):c.1795C>T (p.Arg599Trp)
|
rs764645740
|
0.00002
|
NM_003482.4(KMT2D):c.3238G>C (p.Glu1080Gln)
|
rs762541995
|
0.00002
|
NM_003680.4(YARS1):c.874T>G (p.Tyr292Asp)
|
rs753211165
|
0.00002
|
NM_003850.3(SUCLA2):c.943G>A (p.Asp315Asn)
|
rs772228438
|
0.00002
|
NM_003900.5(SQSTM1):c.1A>G (p.Met1Val)
|
rs1302810798
|
0.00002
|
NM_003900.5(SQSTM1):c.562G>A (p.Val188Met)
|
rs371832577
|
0.00002
|
NM_004006.3(DMD):c.2311G>C (p.Ala771Pro)
|
rs776275581
|
0.00002
|
NM_004006.3(DMD):c.4497G>A (p.Gln1499=)
|
rs1417062461
|
0.00002
|
NM_004006.3(DMD):c.728T>C (p.Val243Ala)
|
rs753509616
|
0.00002
|
NM_004006.3(DMD):c.8015G>A (p.Ser2672Asn)
|
rs771081514
|
0.00002
|
NM_004082.5(DCTN1):c.2290G>A (p.Val764Ile)
|
rs753618444
|
0.00002
|
NM_004172.5(SLC1A3):c.1259A>G (p.Glu420Gly)
|
rs745942837
|
0.00002
|
NM_004172.5(SLC1A3):c.1408G>A (p.Ala470Thr)
|
rs750317354
|
0.00002
|
NM_004320.6(ATP2A1):c.2455C>T (p.Arg819Cys)
|
rs768177407
|
0.00002
|
NM_004320.6(ATP2A1):c.971G>A (p.Arg324His)
|
rs751166692
|
0.00002
|
NM_004393.6(DAG1):c.1210A>G (p.Thr404Ala)
|
rs769229834
|
0.00002
|
NM_004733.4(SLC33A1):c.280A>T (p.Ser94Cys)
|
rs780342840
|
0.00002
|
NM_004820.5(CYP7B1):c.147A>G (p.Ile49Met)
|
rs774259036
|
0.00002
|
NM_004960.4(FUS):c.317C>T (p.Pro106Leu)
|
rs374191107
|
0.00002
|
NM_004960.4(FUS):c.821G>A (p.Arg274His)
|
rs1415220872
|
0.00002
|
NM_004977.3(KCNC3):c.1844C>T (p.Ala615Val)
|
rs1432486680
|
0.00002
|
NM_004984.4(KIF5A):c.217+5T>C
|
rs1321172885
|
0.00002
|
NM_004984.4(KIF5A):c.2282C>G (p.Thr761Ser)
|
rs1271325672
|
0.00002
|
NM_004984.4(KIF5A):c.2881G>A (p.Ala961Thr)
|
rs746095110
|
0.00002
|
NM_005045.4(RELN):c.3287A>G (p.Gln1096Arg)
|
rs780325204
|
0.00002
|
NM_005506.4(SCARB2):c.1105A>G (p.Ile369Val)
|
rs1311037416
|
0.00002
|
NM_005529.7(HSPG2):c.10085G>A (p.Arg3362His)
|
rs748180505
|
0.00002
|
NM_005529.7(HSPG2):c.10460C>A (p.Pro3487His)
|
rs144411636
|
0.00002
|
NM_005529.7(HSPG2):c.12116C>T (p.Ser4039Leu)
|
rs1378916104
|
0.00002
|
NM_005529.7(HSPG2):c.12682G>A (p.Glu4228Lys)
|
rs138672955
|
0.00002
|
NM_005529.7(HSPG2):c.5089C>T (p.Arg1697Trp)
|
rs754726732
|
0.00002
|
NM_005529.7(HSPG2):c.5801G>A (p.Arg1934Gln)
|
rs756689841
|
0.00002
|
NM_005529.7(HSPG2):c.662G>A (p.Arg221Gln)
|
rs539990898
|
0.00002
|
NM_005529.7(HSPG2):c.7985C>A (p.Thr2662Lys)
|
rs374346089
|
0.00002
|
NM_005591.4(MRE11):c.1139G>A (p.Arg380His)
|
rs587781646
|
0.00002
|
NM_005591.4(MRE11):c.1163G>A (p.Arg388Gln)
|
rs587780134
|
0.00002
|
NM_005591.4(MRE11):c.259C>T (p.Arg87Trp)
|
rs758112386
|
0.00002
|
NM_005912.3(MC4R):c.983T>A (p.Leu328Ter)
|
rs751914635
|
0.00002
|
NM_006009.4(TUBA1A):c.859T>A (p.Ser287Thr)
|
rs150978489
|
0.00002
|
NM_006096.4(NDRG1):c.1057C>T (p.Arg353Cys)
|
rs777244818
|
0.00002
|
NM_006493.4(CLN5):c.526A>G (p.Lys176Glu)
|
rs142870036
|
0.00002
|
NM_006790.3(MYOT):c.529C>G (p.Gln177Glu)
|
rs140135928
|
0.00002
|
NM_006796.3(AFG3L2):c.433A>T (p.Met145Leu)
|
rs200249258
|
0.00002
|
NM_006922.4(SCN3A):c.5699A>G (p.Glu1900Gly)
|
rs747096151
|
0.00002
|
NM_006946.4(SPTBN2):c.1266G>C (p.Lys422Asn)
|
rs770892589
|
0.00002
|
NM_006946.4(SPTBN2):c.1501C>T (p.Arg501Cys)
|
rs780836225
|
0.00002
|
NM_006946.4(SPTBN2):c.4465G>A (p.Glu1489Lys)
|
rs377750743
|
0.00002
|
NM_006946.4(SPTBN2):c.4593+3G>A
|
rs915452792
|
0.00002
|
NM_006946.4(SPTBN2):c.5137C>T (p.Arg1713Cys)
|
rs754809056
|
0.00002
|
NM_006946.4(SPTBN2):c.5404G>A (p.Glu1802Lys)
|
rs149317715
|
0.00002
|
NM_006946.4(SPTBN2):c.6536G>A (p.Arg2179Gln)
|
rs759206588
|
0.00002
|
NM_006946.4(SPTBN2):c.7039C>T (p.Arg2347Trp)
|
rs746195427
|
0.00002
|
NM_012210.4(TRIM32):c.907G>A (p.Val303Met)
|
rs144532174
|
0.00002
|
NM_013275.6(ANKRD11):c.3343A>G (p.Ile1115Val)
|
rs753868881
|
0.00002
|
NM_013382.7(POMT2):c.1654-8T>G
|
rs780532724
|
0.00002
|
NM_013382.7(POMT2):c.320C>T (p.Pro107Leu)
|
rs398124264
|
0.00002
|
NM_014159.7(SETD2):c.3136A>G (p.Asn1046Asp)
|
rs199890800
|
0.00002
|
NM_014363.6(SACS):c.10622A>G (p.Tyr3541Cys)
|
rs747013127
|
0.00002
|
NM_014363.6(SACS):c.11249A>G (p.Asn3750Ser)
|
rs376188585
|
0.00002
|
NM_014363.6(SACS):c.11302A>G (p.Thr3768Ala)
|
rs774463808
|
0.00002
|
NM_014363.6(SACS):c.11380G>T (p.Val3794Phe)
|
rs753844954
|
0.00002
|
NM_014363.6(SACS):c.11776G>A (p.Asp3926Asn)
|
rs756252903
|
0.00002
|
NM_014363.6(SACS):c.12130G>C (p.Gly4044Arg)
|
rs753511073
|
0.00002
|
NM_014363.6(SACS):c.1310C>T (p.Thr437Met)
|
rs199657817
|
0.00002
|
NM_014363.6(SACS):c.2686C>T (p.Leu896Phe)
|
rs760556327
|
0.00002
|
NM_014363.6(SACS):c.494C>T (p.Thr165Ile)
|
rs1419027987
|
0.00002
|
NM_014363.6(SACS):c.5630G>A (p.Arg1877Gln)
|
rs772866081
|
0.00002
|
NM_014363.6(SACS):c.6518T>C (p.Ile2173Thr)
|
rs368624188
|
0.00002
|
NM_014363.6(SACS):c.7171G>A (p.Val2391Met)
|
rs760087813
|
0.00002
|
NM_014845.6(FIG4):c.2690T>C (p.Met897Thr)
|
rs764958115
|
0.00002
|
NM_014874.4(MFN2):c.1402C>T (p.Arg468Cys)
|
rs746852710
|
0.00002
|
NM_015046.7(SETX):c.1858A>G (p.Asn620Asp)
|
rs777081940
|
0.00002
|
NM_015046.7(SETX):c.2101G>A (p.Ala701Thr)
|
rs769620847
|
0.00002
|
NM_015046.7(SETX):c.4180T>C (p.Ser1394Pro)
|
rs780078856
|
0.00002
|
NM_015046.7(SETX):c.4525T>C (p.Cys1509Arg)
|
rs543647990
|
0.00002
|
NM_015046.7(SETX):c.4672A>G (p.Thr1558Ala)
|
rs764920626
|
0.00002
|
NM_015046.7(SETX):c.5278G>A (p.Ala1760Thr)
|
rs764316153
|
0.00002
|
NM_015046.7(SETX):c.5403A>C (p.Lys1801Asn)
|
rs762071010
|
0.00002
|
NM_015046.7(SETX):c.5552G>A (p.Arg1851His)
|
rs137978070
|
0.00002
|
NM_015046.7(SETX):c.6029A>G (p.Asn2010Ser)
|
rs759806045
|
0.00002
|
NM_015046.7(SETX):c.6356T>C (p.Val2119Ala)
|
rs781741533
|
0.00002
|
NM_015346.4(ZFYVE26):c.1462C>T (p.His488Tyr)
|
rs145455748
|
0.00002
|
NM_015915.5(ATL1):c.686C>G (p.Ala229Gly)
|
rs1454376300
|
0.00002
|
NM_016239.4(MYO15A):c.9593T>C (p.Ile3198Thr)
|
rs369742063
|
0.00002
|
NM_016341.4(PLCE1):c.599C>T (p.Thr200Ile)
|
rs777436865
|
0.00002
|
NM_017668.3(NDE1):c.823C>T (p.Arg275Trp)
|
rs769264617
|
0.00002
|
NM_018075.5(ANO10):c.224C>T (p.Ser75Phe)
|
rs769095178
|
0.00002
|
NM_018109.4(MTPAP):c.818A>G (p.Asn273Ser)
|
rs763949748
|
0.00002
|
NM_018941.4(CLN8):c.161G>A (p.Arg54His)
|
rs372268977
|
0.00002
|
NM_020247.5(COQ8A):c.1174G>A (p.Glu392Lys)
|
rs760476900
|
0.00002
|
NM_020247.5(COQ8A):c.1189G>A (p.Val397Met)
|
rs777934964
|
0.00002
|
NM_020247.5(COQ8A):c.1812G>A (p.Glu604=)
|
rs887556564
|
0.00002
|
NM_020247.5(COQ8A):c.853+10C>T
|
rs367945973
|
0.00002
|
NM_020247.5(COQ8A):c.911C>T (p.Ala304Val)
|
rs748118737
|
0.00002
|
NM_020435.4(GJC2):c.377C>T (p.Ala126Val)
|
rs2034711645
|
0.00002
|
NM_020919.4(ALS2):c.1558C>T (p.Leu520Phe)
|
rs569869571
|
0.00002
|
NM_020919.4(ALS2):c.2326A>G (p.Ser776Gly)
|
rs778099581
|
0.00002
|
NM_021098.3(CACNA1H):c.3800G>A (p.Arg1267Gln)
|
rs557125328
|
0.00002
|
NM_021625.5(TRPV4):c.191G>A (p.Arg64Gln)
|
rs1199457372
|
0.00002
|
NM_021625.5(TRPV4):c.2585G>A (p.Arg862His)
|
rs371989034
|
0.00002
|
NM_021625.5(TRPV4):c.523A>G (p.Thr175Ala)
|
rs146304351
|
0.00002
|
NM_021625.5(TRPV4):c.743G>A (p.Arg248His)
|
rs759859968
|
0.00002
|
NM_021971.4(GMPPB):c.931C>T (p.Arg311Cys)
|
rs371188899
|
0.00002
|
NM_022089.4(ATP13A2):c.220C>T (p.Arg74Trp)
|
rs753087058
|
0.00002
|
NM_022124.6(CDH23):c.7706G>A (p.Arg2569Gln)
|
rs769627991
|
0.00002
|
NM_022464.5(SIL1):c.288G>T (p.Gln96His)
|
rs368830878
|
0.00002
|
NM_024306.5(FA2H):c.35C>T (p.Ser12Leu)
|
rs1245153953
|
0.00002
|
NM_024577.4(SH3TC2):c.2671G>A (p.Ala891Thr)
|
rs779223727
|
0.00002
|
NM_024577.4(SH3TC2):c.3190G>A (p.Glu1064Lys)
|
rs756108498
|
0.00002
|
NM_024589.3(ROGDI):c.829G>A (p.Val277Met)
|
rs759234056
|
0.00002
|
NM_024665.7(TBL1XR1):c.353C>T (p.Ala118Val)
|
rs749382891
|
0.00002
|
NM_024678.6(NARS2):c.151C>T (p.Arg51Cys)
|
rs367584549
|
0.00002
|
NM_024884.3(L2HGDH):c.752G>A (p.Arg251Gln)
|
rs767037296
|
0.00002
|
NM_025137.4(SPG11):c.2561C>T (p.Ala854Val)
|
rs758923470
|
0.00002
|
NM_025137.4(SPG11):c.6719G>A (p.Arg2240His)
|
rs766384717
|
0.00002
|
NM_025137.4(SPG11):c.7013C>T (p.Ala2338Val)
|
rs368902742
|
0.00002
|
NM_030962.4(SBF2):c.3109C>T (p.Arg1037Cys)
|
rs770723203
|
0.00002
|
NM_030962.4(SBF2):c.4394G>A (p.Gly1465Glu)
|
rs762165359
|
0.00002
|
NM_032409.3(PINK1):c.155C>T (p.Pro52Leu)
|
rs776293086
|
0.00002
|
NM_032409.3(PINK1):c.935G>A (p.Arg312Gln)
|
rs202128685
|
0.00002
|
NM_033305.3(VPS13A):c.8830A>G (p.Lys2944Glu)
|
rs776346441
|
0.00002
|
NM_058246.4(DNAJB6):c.791G>A (p.Arg264Gln)
|
rs969715884
|
0.00002
|
NM_130837.3(OPA1):c.706C>A (p.Gln236Lys)
|
rs779375399
|
0.00002
|
NM_144498.4(OSBPL2):c.*4C>T
|
rs371365664
|
0.00002
|
NM_144599.5(NIPA1):c.871T>C (p.Phe291Leu)
|
rs779693743
|
0.00002
|
NM_145207.3(AFG2A):c.1498A>G (p.Asn500Asp)
|
rs770721082
|
0.00002
|
NM_152564.5(VPS13B):c.7579G>A (p.Ala2527Thr)
|
rs369062407
|
0.00002
|
NM_153026.3(PRICKLE1):c.626G>A (p.Arg209His)
|
rs758400992
|
0.00002
|
NM_175914.5(HNF4A):c.1018G>A (p.Gly340Ser)
|
rs555432665
|
0.00002
|
NM_176787.5(PIGN):c.1423A>G (p.Lys475Glu)
|
rs375746864
|
0.00002
|
NM_176787.5(PIGN):c.2486C>T (p.Ala829Val)
|
rs375027313
|
0.00002
|
NM_181882.3(PRX):c.4117C>T (p.Arg1373Trp)
|
rs766729202
|
0.00002
|
NM_182961.4(SYNE1):c.10136G>A (p.Arg3379His)
|
rs764835758
|
0.00002
|
NM_182961.4(SYNE1):c.10474C>T (p.Arg3492Cys)
|
rs531503159
|
0.00002
|
NM_182961.4(SYNE1):c.11002G>A (p.Glu3668Lys)
|
rs767544504
|
0.00002
|
NM_182961.4(SYNE1):c.1126G>A (p.Gly376Ser)
|
rs757408388
|
0.00002
|
NM_182961.4(SYNE1):c.114C>T (p.Asn38=)
|
rs150562892
|
0.00002
|
NM_182961.4(SYNE1):c.13105G>A (p.Glu4369Lys)
|
rs777182389
|
0.00002
|
NM_182961.4(SYNE1):c.13657C>T (p.Arg4553Trp)
|
rs762294604
|
0.00002
|
NM_182961.4(SYNE1):c.14577G>C (p.Gln4859His)
|
rs369433602
|
0.00002
|
NM_182961.4(SYNE1):c.1464-9T>C
|
rs757728476
|
0.00002
|
NM_182961.4(SYNE1):c.14951G>C (p.Arg4984Thr)
|
rs762212036
|
0.00002
|
NM_182961.4(SYNE1):c.16553G>A (p.Arg5518Gln)
|
rs150604289
|
0.00002
|
NM_182961.4(SYNE1):c.17071C>T (p.Leu5691Phe)
|
rs767705064
|
0.00002
|
NM_182961.4(SYNE1):c.18106G>A (p.Asp6036Asn)
|
rs147615757
|
0.00002
|
NM_182961.4(SYNE1):c.18634G>A (p.Val6212Ile)
|
rs138258566
|
0.00002
|
NM_182961.4(SYNE1):c.19276A>C (p.Ile6426Leu)
|
rs773315032
|
0.00002
|
NM_182961.4(SYNE1):c.22840T>A (p.Phe7614Ile)
|
rs138581943
|
0.00002
|
NM_182961.4(SYNE1):c.23358T>A (p.Ser7786Arg)
|
rs748682472
|
0.00002
|
NM_182961.4(SYNE1):c.24955C>T (p.Arg8319Trp)
|
rs201109440
|
0.00002
|
NM_182961.4(SYNE1):c.25305G>T (p.Met8435Ile)
|
rs758254064
|
0.00002
|
NM_182961.4(SYNE1):c.25567C>T (p.Arg8523Cys)
|
rs765027754
|
0.00002
|
NM_182961.4(SYNE1):c.275T>C (p.Ile92Thr)
|
rs1007703591
|
0.00002
|
NM_182961.4(SYNE1):c.4792C>T (p.Leu1598Phe)
|
rs151002514
|
0.00002
|
NM_182961.4(SYNE1):c.5710T>A (p.Leu1904Met)
|
rs372724272
|
0.00002
|
NM_182961.4(SYNE1):c.6086A>C (p.Asn2029Thr)
|
rs201522015
|
0.00002
|
NM_182961.4(SYNE1):c.6117A>C (p.Lys2039Asn)
|
rs1449605743
|
0.00002
|
NM_182961.4(SYNE1):c.6319A>G (p.Ser2107Gly)
|
rs368938119
|
0.00002
|
NM_182961.4(SYNE1):c.6880G>A (p.Val2294Ile)
|
rs763813886
|
0.00002
|
NM_182961.4(SYNE1):c.7279G>A (p.Ala2427Thr)
|
rs763152677
|
0.00002
|
NM_182961.4(SYNE1):c.7988G>T (p.Arg2663Leu)
|
rs370644295
|
0.00002
|
NM_198576.4(AGRN):c.1534G>A (p.Ala512Thr)
|
rs780205618
|
0.00002
|
NM_198578.4(LRRK2):c.1132C>T (p.Leu378Phe)
|
rs200870486
|
0.00002
|
NM_198994.3(TGM6):c.1997C>T (p.Ala666Val)
|
rs535889149
|
0.00002
|
NM_201378.4(PLEC):c.71-11534C>T
|
rs375696082
|
0.00002
|
NM_201384.3(PLEC):c.10207C>T (p.Arg3403Trp)
|
rs542488020
|
0.00002
|
NM_201384.3(PLEC):c.12401C>T (p.Ser4134Phe)
|
rs782074353
|
0.00002
|
NM_201384.3(PLEC):c.12721G>A (p.Gly4241Ser)
|
rs782789434
|
0.00002
|
NM_201384.3(PLEC):c.5594G>A (p.Arg1865His)
|
rs569571032
|
0.00002
|
NM_201384.3(PLEC):c.6875G>A (p.Arg2292Gln)
|
rs782779625
|
0.00002
|
NM_201384.3(PLEC):c.718+5G>A
|
rs369126676
|
0.00002
|
NM_201384.3(PLEC):c.7240G>A (p.Gly2414Ser)
|
rs782229968
|
0.00002
|
NM_201384.3(PLEC):c.8542G>A (p.Asp2848Asn)
|
rs781793289
|
0.00002
|
NM_201384.3(PLEC):c.9823C>T (p.Arg3275Cys)
|
rs782733657
|
0.00002
|
NM_201525.4(ADGRG1):c.2057G>A (p.Arg686His)
|
rs768017345
|
0.00002
|
NM_201525.4(ADGRG1):c.490C>A (p.Pro164Thr)
|
rs781499938
|
0.00002
|
NM_000023.4(SGCA):c.1015G>A (p.Gly339Arg)
|
rs540254057
|
0.00001
|
NM_000023.4(SGCA):c.592A>G (p.Ile198Val)
|
rs375463037
|
0.00001
|
NM_000051.4(ATM):c.1021G>A (p.Val341Ile)
|
rs200601781
|
0.00001
|
NM_000051.4(ATM):c.1335A>G (p.Gln445=)
|
rs1385656085
|
0.00001
|
NM_000051.4(ATM):c.1352G>A (p.Arg451His)
|
rs554805703
|
0.00001
|
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln)
|
rs202173660
|
0.00001
|
NM_000051.4(ATM):c.1505C>G (p.Ala502Gly)
|
rs766595156
|
0.00001
|
NM_000051.4(ATM):c.1741T>G (p.Leu581Val)
|
rs876659822
|
0.00001
|
NM_000051.4(ATM):c.2062G>A (p.Glu688Lys)
|
rs769338089
|
0.00001
|
NM_000051.4(ATM):c.2269G>A (p.Gly757Arg)
|
rs587779819
|
0.00001
|
NM_000051.4(ATM):c.2333A>G (p.Asn778Ser)
|
rs587779820
|
0.00001
|
NM_000051.4(ATM):c.241A>G (p.Asn81Asp)
|
rs758962678
|
0.00001
|
NM_000051.4(ATM):c.2501A>T (p.Glu834Val)
|
rs730881349
|
0.00001
|
NM_000051.4(ATM):c.3299C>T (p.Thr1100Met)
|
rs189445371
|
0.00001
|
NM_000051.4(ATM):c.3505G>A (p.Glu1169Lys)
|
rs200765255
|
0.00001
|
NM_000051.4(ATM):c.4153G>T (p.Val1385Leu)
|
rs1064794484
|
0.00001
|
NM_000051.4(ATM):c.4420C>G (p.His1474Asp)
|
rs587779840
|
0.00001
|
NM_000051.4(ATM):c.4802G>A (p.Ser1601Asn)
|
rs587782506
|
0.00001
|
NM_000051.4(ATM):c.5488A>G (p.Met1830Val)
|
rs587781622
|
0.00001
|
NM_000051.4(ATM):c.5633C>T (p.Ser1878Leu)
|
rs758908522
|
0.00001
|
NM_000051.4(ATM):c.5892G>C (p.Lys1964Asn)
|
rs786202728
|
0.00001
|
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys)
|
rs202206540
|
0.00001
|
NM_000051.4(ATM):c.6536T>C (p.Ile2179Thr)
|
rs878853532
|
0.00001
|
NM_000051.4(ATM):c.6807G>A (p.Gln2269=)
|
rs587780638
|
0.00001
|
NM_000051.4(ATM):c.6975+5G>T
|
rs575354684
|
0.00001
|
NM_000051.4(ATM):c.7382G>A (p.Arg2461His)
|
rs768461085
|
0.00001
|
NM_000051.4(ATM):c.7499T>C (p.Val2500Ala)
|
rs779810877
|
0.00001
|
NM_000051.4(ATM):c.7502A>G (p.Asn2501Ser)
|
rs531617441
|
0.00001
|
NM_000051.4(ATM):c.8314G>A (p.Gly2772Arg)
|
rs1064794239
|
0.00001
|
NM_000051.4(ATM):c.8617G>A (p.Val2873Ile)
|
rs730881327
|
0.00001
|
NM_000051.4(ATM):c.9041A>G (p.Gln3014Arg)
|
rs1064793579
|
0.00001
|
NM_000051.4(ATM):c.977T>C (p.Ile326Thr)
|
rs768720856
|
0.00001
|
NM_000070.3(CAPN3):c.1092G>T (p.Glu364Asp)
|
rs2053635682
|
0.00001
|
NM_000070.3(CAPN3):c.1257T>G (p.Asp419Glu)
|
rs139836397
|
0.00001
|
NM_000070.3(CAPN3):c.371G>C (p.Gly124Ala)
|
rs587780291
|
0.00001
|
NM_000070.3(CAPN3):c.964T>C (p.Tyr322His)
|
rs149591108
|
0.00001
|
NM_000083.3(CLCN1):c.1061T>G (p.Ile354Ser)
|
rs1682810737
|
0.00001
|
NM_000083.3(CLCN1):c.166G>A (p.Val56Ile)
|
rs202120426
|
0.00001
|
NM_000083.3(CLCN1):c.1974G>A (p.Gln658=)
|
rs1271606004
|
0.00001
|
NM_000083.3(CLCN1):c.2284+3G>A
|
rs755127390
|
0.00001
|
NM_000083.3(CLCN1):c.2365-3T>C
|
rs770158484
|
0.00001
|
NM_000083.3(CLCN1):c.2663G>A (p.Arg888Gln)
|
rs771890096
|
0.00001
|
NM_000083.3(CLCN1):c.2789C>A (p.Pro930His)
|
rs147068247
|
0.00001
|
NM_000083.3(CLCN1):c.563-8G>A
|
rs763640926
|
0.00001
|
NM_000083.3(CLCN1):c.823G>A (p.Val275Ile)
|
rs759703560
|
0.00001
|
NM_000083.3(CLCN1):c.959C>T (p.Ala320Val)
|
rs1478129213
|
0.00001
|
NM_000088.4(COL1A1):c.3842G>T (p.Gly1281Val)
|
rs918420911
|
0.00001
|
NM_000089.4(COL1A2):c.1159G>C (p.Ala387Pro)
|
rs972825197
|
0.00001
|
NM_000092.5(COL4A4):c.1203A>G (p.Ala401=)
|
rs778832152
|
0.00001
|
NM_000092.5(COL4A4):c.3771G>A (p.Pro1257=)
|
rs1384523881
|
0.00001
|
NM_000098.3(CPT2):c.130C>T (p.His44Tyr)
|
rs995114769
|
0.00001
|
NM_000110.4(DPYD):c.2758A>C (p.Thr920Pro)
|
rs886046575
|
0.00001
|
NM_000144.5(FXN):c.163G>A (p.Ala55Thr)
|
rs1316008371
|
0.00001
|
NM_000144.5(FXN):c.81C>T (p.Val27=)
|
rs1456280969
|
0.00001
|
NM_000161.3(GCH1):c.22G>A (p.Ala8Thr)
|
rs529381971
|
0.00001
|
NM_000162.5(GCK):c.1364T>A (p.Val455Glu)
|
rs753795627
|
0.00001
|
NM_000162.5(GCK):c.1386G>T (p.Met462Ile)
|
rs193922285
|
0.00001
|
NM_000162.5(GCK):c.370G>A (p.Asp124Asn)
|
rs759072800
|
0.00001
|
NM_000162.5(GCK):c.823C>T (p.Arg275Cys)
|
rs556436603
|
0.00001
|
NM_000162.5(GCK):c.951C>G (p.His317Gln)
|
rs1379908545
|
0.00001
|
NM_000166.6(GJB1):c.793C>T (p.Arg265Cys)
|
rs1324941945
|
0.00001
|
NM_000209.4(PDX1):c.110A>T (p.Tyr37Phe)
|
rs1242190304
|
0.00001
|
NM_000209.4(PDX1):c.259C>G (p.Pro87Ala)
|
rs769974289
|
0.00001
|
NM_000217.3(KCNA1):c.12G>T (p.Met4Ile)
|
rs773128496
|
0.00001
|
NM_000217.3(KCNA1):c.1311T>G (p.Ser437=)
|
rs1565433583
|
0.00001
|
NM_000217.3(KCNA1):c.1346T>C (p.Met449Thr)
|
rs1481224137
|
0.00001
|
NM_000217.3(KCNA1):c.475T>C (p.Tyr159His)
|
rs764645312
|
0.00001
|
NM_000231.3(SGCG):c.100C>T (p.Arg34Cys)
|
rs747549369
|
0.00001
|
NM_000231.3(SGCG):c.230G>C (p.Gly77Ala)
|
rs886043950
|
0.00001
|
NM_000232.5(SGCB):c.204G>T (p.Val68=)
|
rs1560568801
|
0.00001
|
NM_000238.4(KCNH2):c.1319C>T (p.Pro440Leu)
|
rs199473509
|
0.00001
|
NM_000238.4(KCNH2):c.3215C>T (p.Thr1072Met)
|
rs781624566
|
0.00001
|
NM_000245.4(MET):c.1477G>C (p.Glu493Gln)
|
rs965319455
|
0.00001
|
NM_000256.3(MYBPC3):c.1219G>A (p.Gly407Ser)
|
rs727505266
|
0.00001
|
NM_000260.4(MYO7A):c.2122A>G (p.Met708Val)
|
rs397516293
|
0.00001
|
NM_000284.4(PDHA1):c.661A>G (p.Ile221Val)
|
rs1410654779
|
0.00001
|
NM_000284.4(PDHA1):c.900-2dup
|
rs779132922
|
0.00001
|
NM_000287.4(PEX6):c.2347G>A (p.Glu783Lys)
|
rs757161798
|
0.00001
|
NM_000297.4(PKD2):c.1093G>A (p.Ala365Thr)
|
rs926203174
|
0.00001
|
NM_000297.4(PKD2):c.1724A>G (p.Lys575Arg)
|
rs181037821
|
0.00001
|
NM_000297.4(PKD2):c.59C>T (p.Ala20Val)
|
rs1213258236
|
0.00001
|
NM_000304.4(PMP22):c.332T>C (p.Met111Thr)
|
rs759808649
|
0.00001
|
NM_000330.4(RS1):c.185-3054G>A
|
rs1294833087
|
0.00001
|
NM_000330.4(RS1):c.185-3146G>A
|
rs1398393336
|
0.00001
|
NM_000334.4(SCN4A):c.2083A>G (p.Asn695Asp)
|
rs1327920743
|
0.00001
|
NM_000334.4(SCN4A):c.3829A>T (p.Ile1277Phe)
|
rs776750130
|
0.00001
|
NM_000334.4(SCN4A):c.4390G>A (p.Gly1464Arg)
|
rs150423825
|
0.00001
|
NM_000334.4(SCN4A):c.4420G>A (p.Ala1474Thr)
|
rs778417596
|
0.00001
|
NM_000334.4(SCN4A):c.4484T>C (p.Ile1495Thr)
|
rs1318966106
|
0.00001
|
NM_000334.4(SCN4A):c.4791C>G (p.Ile1597Met)
|
rs1567816199
|
0.00001
|
NM_000334.4(SCN4A):c.5492T>A (p.Val1831Asp)
|
rs1300925199
|
0.00001
|
NM_000335.5(SCN5A):c.4744C>T (p.Arg1582Cys)
|
rs45514691
|
0.00001
|
NM_000336.3(SCNN1B):c.187G>A (p.Val63Ile)
|
rs1039766661
|
0.00001
|
NM_000338.3(SLC12A1):c.3160G>A (p.Val1054Ile)
|
rs767407815
|
0.00001
|
NM_000344.4(SMN1):c.835-3C>T
|
rs772466166
|
0.00001
|
NM_000352.6(ABCC8):c.170A>G (p.Lys57Arg)
|
rs762919223
|
0.00001
|
NM_000352.6(ABCC8):c.1973G>T (p.Gly658Val)
|
rs149400972
|
0.00001
|
NM_000352.6(ABCC8):c.3784G>A (p.Ala1262Thr)
|
rs1266053680
|
0.00001
|
NM_000352.6(ABCC8):c.3989-10C>T
|
rs373737642
|
0.00001
|
NM_000352.6(ABCC8):c.4607C>T (p.Ala1536Val)
|
rs745918247
|
0.00001
|
NM_000370.3(TTPA):c.272G>C (p.Ser91Thr)
|
rs186021365
|
0.00001
|
NM_000370.3(TTPA):c.401G>A (p.Arg134Gln)
|
rs748038814
|
0.00001
|
NM_000370.3(TTPA):c.6A>T (p.Ala2=)
|
rs1805748956
|
0.00001
|
NM_000370.3(TTPA):c.752C>T (p.Ser251Phe)
|
rs756313678
|
0.00001
|
NM_000371.4(TTR):c.88T>C (p.Cys30Arg)
|
rs121918083
|
0.00001
|
NM_000383.4(AIRE):c.22C>T (p.Arg8Cys)
|
rs1231469574
|
0.00001
|
NM_000388.4(CASR):c.106G>A (p.Gly36Arg)
|
rs193922420
|
0.00001
|
NM_000388.4(CASR):c.2314G>A (p.Ala772Thr)
|
rs199508583
|
0.00001
|
NM_000388.4(CASR):c.2915C>T (p.Thr972Met)
|
rs200620134
|
0.00001
|
NM_000399.5(EGR2):c.670C>A (p.Pro224Thr)
|
rs758869303
|
0.00001
|
NM_000414.4(HSD17B4):c.571A>G (p.Thr191Ala)
|
rs1397379413
|
0.00001
|
NM_000426.4(LAMA2):c.1262C>A (p.Ser421Tyr)
|
rs775603569
|
0.00001
|
NM_000426.4(LAMA2):c.1681T>G (p.Leu561Val)
|
rs765515681
|
0.00001
|
NM_000426.4(LAMA2):c.2376C>T (p.Phe792=)
|
rs150046431
|
0.00001
|
NM_000426.4(LAMA2):c.5899G>T (p.Ala1967Ser)
|
rs762129616
|
0.00001
|
NM_000426.4(LAMA2):c.6079C>A (p.Pro2027Thr)
|
rs374006928
|
0.00001
|
NM_000435.3(NOTCH3):c.133G>C (p.Asp45His)
|
rs142031490
|
0.00001
|
NM_000435.3(NOTCH3):c.1522G>A (p.Val508Met)
|
rs755398328
|
0.00001
|
NM_000435.3(NOTCH3):c.154G>A (p.Gly52Arg)
|
rs148166997
|
0.00001
|
NM_000435.3(NOTCH3):c.1780G>A (p.Gly594Ser)
|
rs955926125
|
0.00001
|
NM_000435.3(NOTCH3):c.2054C>T (p.Pro685Leu)
|
rs768867865
|
0.00001
|
NM_000435.3(NOTCH3):c.2119G>A (p.Gly707Ser)
|
rs1378515982
|
0.00001
|
NM_000435.3(NOTCH3):c.2137C>T (p.Pro713Ser)
|
rs147855256
|
0.00001
|
NM_000435.3(NOTCH3):c.2253C>T (p.Ser751=)
|
rs1039939758
|
0.00001
|
NM_000435.3(NOTCH3):c.2887G>A (p.Ala963Thr)
|
rs199978689
|
0.00001
|
NM_000435.3(NOTCH3):c.2890G>C (p.Asp964His)
|
rs201336164
|
0.00001
|
NM_000435.3(NOTCH3):c.305C>T (p.Ala102Val)
|
rs1487780762
|
0.00001
|
NM_000435.3(NOTCH3):c.3293C>A (p.Thr1098Asn)
|
rs182238142
|
0.00001
|
NM_000435.3(NOTCH3):c.4112G>T (p.Arg1371Leu)
|
rs1177188516
|
0.00001
|
NM_000435.3(NOTCH3):c.4406C>G (p.Pro1469Arg)
|
rs779132149
|
0.00001
|
NM_000435.3(NOTCH3):c.5006G>A (p.Arg1669His)
|
rs1184522923
|
0.00001
|
NM_000435.3(NOTCH3):c.5281C>T (p.Arg1761Cys)
|
rs771814027
|
0.00001
|
NM_000435.3(NOTCH3):c.5398G>T (p.Gly1800Trp)
|
rs1012192046
|
0.00001
|
NM_000435.3(NOTCH3):c.5617C>T (p.Arg1873Cys)
|
rs749429793
|
0.00001
|
NM_000435.3(NOTCH3):c.6101C>G (p.Pro2034Arg)
|
rs751050359
|
0.00001
|
NM_000435.3(NOTCH3):c.6242G>T (p.Gly2081Val)
|
rs141231747
|
0.00001
|
NM_000435.3(NOTCH3):c.6255G>A (p.Thr2085=)
|
rs967649457
|
0.00001
|
NM_000435.3(NOTCH3):c.6395C>T (p.Ala2132Val)
|
rs1300230282
|
0.00001
|
NM_000435.3(NOTCH3):c.6440G>A (p.Gly2147Asp)
|
rs897705605
|
0.00001
|
NM_000435.3(NOTCH3):c.6665C>T (p.Pro2222Leu)
|
rs1489373939
|
0.00001
|
NM_000444.6(PHEX):c.827G>A (p.Arg276Lys)
|
rs776124957
|
0.00001
|
NM_000447.3(PSEN2):c.89C>T (p.Ser30Phe)
|
rs200037771
|
0.00001
|
NM_000451.4(SHOX):c.*3C>T
|
rs891162345
|
0.00001
|
NM_000451.4(SHOX):c.379G>C (p.Glu127Gln)
|
rs1318947960
|
0.00001
|
NM_000451.4(SHOX):c.528G>T (p.Glu176Asp)
|
rs778921118
|
0.00001
|
NM_000451.4(SHOX):c.792C>G (p.Ala264=)
|
rs1432441801
|
0.00001
|
NM_000454.5(SOD1):c.193T>C (p.Phe65Leu)
|
rs1030039318
|
0.00001
|
NM_000458.4(HNF1B):c.1117G>A (p.Ala373Thr)
|
rs759270956
|
0.00001
|
NM_000458.4(HNF1B):c.1243A>T (p.Thr415Ser)
|
rs765654692
|
0.00001
|
NM_000458.4(HNF1B):c.146C>G (p.Ser49Cys)
|
rs770078634
|
0.00001
|
NM_000466.3(PEX1):c.2363T>C (p.Val788Ala)
|
rs886062505
|
0.00001
|
NM_000481.4(AMT):c.638T>G (p.Phe213Cys)
|
rs963795935
|
0.00001
|
NM_000481.4(AMT):c.830T>C (p.Ile277Thr)
|
rs1052014497
|
0.00001
|
NM_000484.4(APP):c.1138G>A (p.Glu380Lys)
|
rs755703063
|
0.00001
|
NM_000487.6(ARSA):c.847G>T (p.Asp283Tyr)
|
rs199476386
|
0.00001
|
NM_000497.4(CYP11B1):c.338T>G (p.Leu113Arg)
|
rs1258403960
|
0.00001
|
NM_000497.4(CYP11B1):c.422G>A (p.Arg141Gln)
|
rs267601810
|
0.00001
|
NM_000497.4(CYP11B1):c.476C>T (p.Pro159Leu)
|
rs370266763
|
0.00001
|
NM_000500.9(CYP21A2):c.49C>T (p.Arg17Cys)
|
rs757608533
|
0.00001
|
NM_000525.4(KCNJ11):c.874G>A (p.Glu292Lys)
|
rs1174593640
|
0.00001
|
NM_000530.8(MPZ):c.73T>A (p.Ser25Thr)
|
rs997633417
|
0.00001
|
NM_000540.3(RYR1):c.6311G>A (p.Arg2104His)
|
rs745319881
|
0.00001
|
NM_000540.3(RYR1):c.7072A>C (p.Ile2358Leu)
|
rs759306349
|
0.00001
|
NM_000540.3(RYR1):c.9149T>A (p.Val3050Asp)
|
rs1157851269
|
0.00001
|
NM_000540.3(RYR1):c.9413C>T (p.Pro3138Leu)
|
rs762652935
|
0.00001
|
NM_000540.3(RYR1):c.9605C>T (p.Pro3202Leu)
|
rs754002399
|
0.00001
|
NM_000540.3(RYR1):c.9623C>T (p.Pro3208Leu)
|
rs758210285
|
0.00001
|
NM_000545.8(HNF1A):c.1637A>C (p.Asp546Ala)
|
rs984428675
|
0.00001
|
NM_000545.8(HNF1A):c.1699G>A (p.Val567Ile)
|
rs751368921
|
0.00001
|
NM_000545.8(HNF1A):c.1769T>C (p.Val590Ala)
|
rs928744634
|
0.00001
|
NM_000545.8(HNF1A):c.527-19C>T
|
rs563495098
|
0.00001
|
NM_000545.8(HNF1A):c.626C>A (p.Ala209Glu)
|
rs1286294151
|
0.00001
|
NM_000545.8(HNF1A):c.901G>A (p.Ala301Thr)
|
rs555681479
|
0.00001
|
NM_000548.5(TSC2):c.1099C>T (p.Arg367Trp)
|
rs757844109
|
0.00001
|
NM_000548.5(TSC2):c.1622C>G (p.Pro541Arg)
|
rs752953762
|
0.00001
|
NM_000548.5(TSC2):c.170G>A (p.Arg57His)
|
rs397514949
|
0.00001
|
NM_000548.5(TSC2):c.4738C>T (p.Arg1580Trp)
|
rs777592623
|
0.00001
|
NM_000548.5(TSC2):c.997G>T (p.Val333Leu)
|
rs1336741146
|
0.00001
|
NM_000702.4(ATP1A2):c.2123T>C (p.Ile708Thr)
|
rs1341609289
|
0.00001
|
NM_000702.4(ATP1A2):c.2266G>A (p.Val756Ile)
|
rs777895941
|
0.00001
|
NM_000722.4(CACNA2D1):c.879+9833A>G
|
rs891611532
|
0.00001
|
NM_000726.5(CACNB4):c.1504C>G (p.Pro502Ala)
|
rs777642049
|
0.00001
|
NM_000726.5(CACNB4):c.1550G>A (p.Arg517Gln)
|
rs760115429
|
0.00001
|
NM_000726.5(CACNB4):c.280G>A (p.Ala94Thr)
|
rs1345049325
|
0.00001
|
NM_000726.5(CACNB4):c.331G>A (p.Val111Met)
|
rs764764389
|
0.00001
|
NM_000744.7(CHRNA4):c.1721T>C (p.Ile574Thr)
|
rs139657121
|
0.00001
|
NM_000744.7(CHRNA4):c.326C>T (p.Thr109Ile)
|
rs768527293
|
0.00001
|
NM_000744.7(CHRNA4):c.383+1G>A
|
rs139129197
|
0.00001
|
NM_000748.3(CHRNB2):c.515A>G (p.Lys172Arg)
|
rs1330894666
|
0.00001
|
NM_000748.3(CHRNB2):c.691C>T (p.Arg231Cys)
|
rs752986234
|
0.00001
|
NM_001003800.2(BICD2):c.1790G>A (p.Arg597Gln)
|
rs1412401979
|
0.00001
|
NM_001005361.3(DNM2):c.2035A>G (p.Ile679Val)
|
rs1381561772
|
0.00001
|
NM_001005361.3(DNM2):c.2593G>A (p.Glu865Lys)
|
rs746818628
|
0.00001
|
NM_001005361.3(DNM2):c.944A>G (p.Lys315Arg)
|
rs148105340
|
0.00001
|
NM_001008212.2(OPTN):c.628G>A (p.Ala210Thr)
|
rs778855963
|
0.00001
|
NM_001008212.2(OPTN):c.682C>T (p.His228Tyr)
|
rs775448931
|
0.00001
|
NM_001009944.3(PKD1):c.10163C>G (p.Ala3388Gly)
|
rs780451430
|
0.00001
|
NM_001009944.3(PKD1):c.10822-4C>G
|
rs1213585339
|
0.00001
|
NM_001009944.3(PKD1):c.11156+5G>A
|
rs781007377
|
0.00001
|
NM_001009944.3(PKD1):c.11903G>A (p.Arg3968His)
|
rs1297869565
|
0.00001
|
NM_001009944.3(PKD1):c.12441G>A (p.Lys4147=)
|
rs201747031
|
0.00001
|
NM_001009944.3(PKD1):c.12697A>C (p.Thr4233Pro)
|
rs1230641065
|
0.00001
|
NM_001009944.3(PKD1):c.2993C>T (p.Ala998Val)
|
rs1393997103
|
0.00001
|
NM_001009944.3(PKD1):c.4696G>A (p.Val1566Met)
|
rs2575314
|
0.00001
|
NM_001009944.3(PKD1):c.5080C>T (p.His1694Tyr)
|
rs374424212
|
0.00001
|
NM_001009944.3(PKD1):c.5125G>A (p.Asp1709Asn)
|
rs1199050207
|
0.00001
|
NM_001009944.3(PKD1):c.6404C>T (p.Ala2135Val)
|
rs368987928
|
0.00001
|
NM_001009944.3(PKD1):c.6637C>T (p.Arg2213Trp)
|
rs757222149
|
0.00001
|
NM_001009944.3(PKD1):c.6643C>T (p.Arg2215Trp)
|
rs752793757
|
0.00001
|
NM_001009944.3(PKD1):c.6679C>T (p.His2227Tyr)
|
rs1257476353
|
0.00001
|
NM_001009944.3(PKD1):c.8300G>A (p.Arg2767His)
|
rs770080914
|
0.00001
|
NM_001009944.3(PKD1):c.8302G>A (p.Val2768Met)
|
rs1456510041
|
0.00001
|
NM_001009944.3(PKD1):c.9815G>A (p.Arg3272His)
|
rs1452116333
|
0.00001
|
NM_001009944.3(PKD1):c.9841G>A (p.Ala3281Thr)
|
rs1210319842
|
0.00001
|
NM_001039141.3(TRIOBP):c.567G>T (p.Arg189Ser)
|
rs1318164921
|
0.00001
|
NM_001040142.2(SCN2A):c.2046G>T (p.Lys682Asn)
|
rs756493732
|
0.00001
|
NM_001042492.3(NF1):c.5951A>G (p.Asn1984Ser)
|
rs764291252
|
0.00001
|
NM_001042492.3(NF1):c.7943T>G (p.Val2648Gly)
|
rs1487025591
|
0.00001
|
NM_001042517.2(DIAPH3):c.1682C>G (p.Pro561Arg)
|
rs752119644
|
0.00001
|
NM_001042517.2(DIAPH3):c.31C>T (p.Pro11Ser)
|
rs1002183897
|
0.00001
|
NM_001048166.1(STIL):c.653T>G (p.Leu218Trp)
|
rs1236526270
|
0.00001
|
NM_001077365.2(POMT1):c.1064T>C (p.Ile355Thr)
|
rs1334264954
|
0.00001
|
NM_001077365.2(POMT1):c.1354G>A (p.Ala452Thr)
|
rs150702948
|
0.00001
|
NM_001077365.2(POMT1):c.1601T>C (p.Leu534Pro)
|
rs1489617043
|
0.00001
|
NM_001077365.2(POMT1):c.2068G>A (p.Val690Met)
|
rs150209587
|
0.00001
|
NM_001077365.2(POMT1):c.426C>T (p.Ile142=)
|
rs771390000
|
0.00001
|
NM_001077365.2(POMT1):c.697_699del (p.Asn233del)
|
rs761863400
|
0.00001
|
NM_001083961.2(WDR62):c.1462C>T (p.Pro488Ser)
|
rs769676295
|
0.00001
|
NM_001083961.2(WDR62):c.2600G>A (p.Arg867Gln)
|
rs757558839
|
0.00001
|
NM_001083961.2(WDR62):c.3514C>T (p.Pro1172Ser)
|
rs1345522384
|
0.00001
|
NM_001099922.3(ALG13):c.1217C>T (p.Ala406Val)
|
rs1057522541
|
0.00001
|
NM_001099922.3(ALG13):c.2260C>T (p.Pro754Ser)
|
rs775045681
|
0.00001
|
NM_001101362.3(KBTBD13):c.778C>T (p.Leu260Phe)
|
rs769416249
|
0.00001
|
NM_001101362.3(KBTBD13):c.901G>T (p.Ala301Ser)
|
rs540070816
|
0.00001
|
NM_001110556.2(FLNA):c.6437G>A (p.Arg2146His)
|
rs1557176006
|
0.00001
|
NM_001110556.2(FLNA):c.6937G>A (p.Glu2313Lys)
|
rs782129661
|
0.00001
|
NM_001126108.2(SLC12A3):c.3062A>G (p.Gln1021Arg)
|
rs762026283
|
0.00001
|
NM_001126108.2(SLC12A3):c.391G>A (p.Glu131Lys)
|
rs199745548
|
0.00001
|
NM_001126108.2(SLC12A3):c.472C>T (p.Arg158Trp)
|
rs1041531529
|
0.00001
|
NM_001126108.2(SLC12A3):c.56G>A (p.Arg19His)
|
rs776593495
|
0.00001
|
NM_001127222.2(CACNA1A):c.1327G>A (p.Ala443Thr)
|
rs866479368
|
0.00001
|
NM_001127222.2(CACNA1A):c.1329T>C (p.Ala443=)
|
rs2058444317
|
0.00001
|
NM_001127222.2(CACNA1A):c.1427G>A (p.Arg476His)
|
rs755107633
|
0.00001
|
NM_001127222.2(CACNA1A):c.1499C>T (p.Thr500Met)
|
rs121908240
|
0.00001
|
NM_001127222.2(CACNA1A):c.1546G>A (p.Asp516Asn)
|
rs185034915
|
0.00001
|
NM_001127222.2(CACNA1A):c.2391G>A (p.Met797Ile)
|
rs370746809
|
0.00001
|
NM_001127222.2(CACNA1A):c.2707C>T (p.His903Tyr)
|
rs765300713
|
0.00001
|
NM_001127222.2(CACNA1A):c.2774C>T (p.Ala925Val)
|
rs765345767
|
0.00001
|
NM_001127222.2(CACNA1A):c.2882A>C (p.His961Pro)
|
rs1316264115
|
0.00001
|
NM_001127222.2(CACNA1A):c.294-4A>G
|
rs1400044284
|
0.00001
|
NM_001127222.2(CACNA1A):c.3071G>A (p.Arg1024Gln)
|
rs1458500776
|
0.00001
|
NM_001127222.2(CACNA1A):c.3167G>A (p.Arg1056His)
|
rs200850308
|
0.00001
|
NM_001127222.2(CACNA1A):c.3364C>T (p.Arg1122Cys)
|
rs774407963
|
0.00001
|
NM_001127222.2(CACNA1A):c.3371C>T (p.Thr1124Met)
|
rs374720207
|
0.00001
|
NM_001127222.2(CACNA1A):c.3377A>G (p.Asn1126Ser)
|
rs755440575
|
0.00001
|
NM_001127222.2(CACNA1A):c.4693C>T (p.Pro1565Ser)
|
rs1353824164
|
0.00001
|
NM_001127222.2(CACNA1A):c.4786G>A (p.Ala1596Thr)
|
rs769043258
|
0.00001
|
NM_001127222.2(CACNA1A):c.5336G>A (p.Arg1779Gln)
|
rs267605294
|
0.00001
|
NM_001127222.2(CACNA1A):c.5839+10G>A
|
rs371733571
|
0.00001
|
NM_001127222.2(CACNA1A):c.6055G>T (p.Ala2019Ser)
|
rs1393616835
|
0.00001
|
NM_001127222.2(CACNA1A):c.6458A>G (p.Gln2153Arg)
|
rs1242460645
|
0.00001
|
NM_001127222.2(CACNA1A):c.6469G>A (p.Asp2157Asn)
|
rs1042634748
|
0.00001
|
NM_001127222.2(CACNA1A):c.7197G>C (p.Glu2399Asp)
|
rs973900517
|
0.00001
|
NM_001127222.2(CACNA1A):c.7368G>A (p.Arg2456=)
|
rs987406696
|
0.00001
|
NM_001127222.2(CACNA1A):c.7409G>A (p.Arg2470Gln)
|
rs754738036
|
0.00001
|
NM_001127222.2(CACNA1A):c.7512T>C (p.Asp2504=)
|
rs1296592145
|
0.00001
|
NM_001127644.2(GABRA1):c.1283C>T (p.Pro428Leu)
|
rs778447396
|
0.00001
|
NM_001128840.3(CACNA1D):c.5695T>G (p.Cys1899Gly)
|
rs779483775
|
0.00001
|
NM_001130823.3(DNMT1):c.4000G>A (p.Ala1334Thr)
|
rs779967013
|
0.00001
|
NM_001130987.2(DYSF):c.3202C>G (p.Leu1068Val)
|
rs781120136
|
0.00001
|
NM_001130987.2(DYSF):c.3458T>C (p.Phe1153Ser)
|
rs886044487
|
0.00001
|
NM_001130987.2(DYSF):c.4060-7T>A
|
rs753614306
|
0.00001
|
NM_001130987.2(DYSF):c.5483T>C (p.Leu1828Pro)
|
rs727503914
|
0.00001
|
NM_001130987.2(DYSF):c.5720A>G (p.Asn1907Ser)
|
rs543664648
|
0.00001
|
NM_001145026.2(PTPRQ):c.5076T>A (p.Ile1692=)
|
rs745546272
|
0.00001
|
NM_001145809.2(MYH14):c.5962C>T (p.Arg1988Cys)
|
rs747594595
|
0.00001
|
NM_001146262.4(SYT14):c.1182G>A (p.Met394Ile)
|
rs759225529
|
0.00001
|
NM_001146262.4(SYT14):c.118C>A (p.Leu40Met)
|
rs149932852
|
0.00001
|
NM_001146262.4(SYT14):c.61+13176A>G
|
rs866440102
|
0.00001
|
NM_001161352.2(KCNMA1):c.2981C>T (p.Thr994Ile)
|
rs768061213
|
0.00001
|
NM_001164508.2(NEB):c.1423A>G (p.Ile475Val)
|
rs772070576
|
0.00001
|
NM_001165963.4(SCN1A):c.3506T>C (p.Val1169Ala)
|
rs1380673643
|
0.00001
|
NM_001165963.4(SCN1A):c.821G>A (p.Arg274Lys)
|
rs1285055471
|
0.00001
|
NM_001166114.2(PNPLA6):c.4046G>A (p.Arg1349Gln)
|
rs368661376
|
0.00001
|
NM_001199107.2(TBC1D24):c.734T>C (p.Leu245Pro)
|
rs370477379
|
0.00001
|
NM_001242896.3(DEPDC5):c.1265G>A (p.Arg422Gln)
|
rs886039277
|
0.00001
|
NM_001243133.2(NLRP3):c.2951T>A (p.Val984Asp)
|
rs778650629
|
0.00001
|
NM_001243230.2(TCF4):c.13A>G (p.Lys5Glu)
|
rs1373298140
|
0.00001
|
NM_001244008.2(KIF1A):c.3296A>G (p.Asn1099Ser)
|
rs1288885072
|
0.00001
|
NM_001244008.2(KIF1A):c.799-4G>A
|
rs759945798
|
0.00001
|
NM_001267550.2(TTN):c.101173A>G (p.Ile33725Val)
|
rs878900245
|
0.00001
|
NM_001267550.2(TTN):c.105449G>A (p.Cys35150Tyr)
|
rs554953169
|
0.00001
|
NM_001267550.2(TTN):c.107182G>A (p.Glu35728Lys)
|
rs764891218
|
0.00001
|
NM_001267550.2(TTN):c.107723T>C (p.Ile35908Thr)
|
rs769141222
|
0.00001
|
NM_001267550.2(TTN):c.12779C>T (p.Ala4260Val)
|
rs370295357
|
0.00001
|
NM_001267550.2(TTN):c.1307C>T (p.Ala436Val)
|
rs781488193
|
0.00001
|
NM_001267550.2(TTN):c.13940A>G (p.Asp4647Gly)
|
rs781348816
|
0.00001
|
NM_001267550.2(TTN):c.14018G>A (p.Gly4673Glu)
|
rs374361492
|
0.00001
|
NM_001267550.2(TTN):c.15797G>A (p.Arg5266Gln)
|
rs749816144
|
0.00001
|
NM_001267550.2(TTN):c.17910T>C (p.His5970=)
|
rs1175537809
|
0.00001
|
NM_001267550.2(TTN):c.18589G>C (p.Glu6197Gln)
|
rs753281535
|
0.00001
|
NM_001267550.2(TTN):c.19715-3T>C
|
rs2079629592
|
0.00001
|
NM_001267550.2(TTN):c.20986T>C (p.Phe6996Leu)
|
rs753725329
|
0.00001
|
NM_001267550.2(TTN):c.21674T>C (p.Phe7225Ser)
|
rs780534846
|
0.00001
|
NM_001267550.2(TTN):c.21833T>A (p.Ile7278Lys)
|
rs766571996
|
0.00001
|
NM_001267550.2(TTN):c.21956C>T (p.Thr7319Ile)
|
rs876658043
|
0.00001
|
NM_001267550.2(TTN):c.2233A>G (p.Lys745Glu)
|
rs139957325
|
0.00001
|
NM_001267550.2(TTN):c.22650A>T (p.Lys7550Asn)
|
rs1460815999
|
0.00001
|
NM_001267550.2(TTN):c.23392G>A (p.Val7798Met)
|
rs144032104
|
0.00001
|
NM_001267550.2(TTN):c.23521A>T (p.Asn7841Tyr)
|
rs753072306
|
0.00001
|
NM_001267550.2(TTN):c.24706G>A (p.Glu8236Lys)
|
rs377762626
|
0.00001
|
NM_001267550.2(TTN):c.25489C>T (p.Arg8497Cys)
|
rs369517119
|
0.00001
|
NM_001267550.2(TTN):c.2585C>T (p.Pro862Leu)
|
rs1431639021
|
0.00001
|
NM_001267550.2(TTN):c.28274C>T (p.Pro9425Leu)
|
rs755720364
|
0.00001
|
NM_001267550.2(TTN):c.28462+3A>G
|
rs1402065855
|
0.00001
|
NM_001267550.2(TTN):c.28877C>A (p.Ala9626Asp)
|
rs397517530
|
0.00001
|
NM_001267550.2(TTN):c.2989A>G (p.Ile997Val)
|
rs761499989
|
0.00001
|
NM_001267550.2(TTN):c.32011+1G>T
|
rs1471534246
|
0.00001
|
NM_001267550.2(TTN):c.32096-5T>G
|
rs551230637
|
0.00001
|
NM_001267550.2(TTN):c.33418+1G>A
|
rs746588865
|
0.00001
|
NM_001267550.2(TTN):c.34435G>C (p.Glu11479Gln)
|
rs1298237270
|
0.00001
|
NM_001267550.2(TTN):c.35012T>G (p.Val11671Gly)
|
rs879054010
|
0.00001
|
NM_001267550.2(TTN):c.36578T>C (p.Val12193Ala)
|
rs550002952
|
0.00001
|
NM_001267550.2(TTN):c.40478-4T>G
|
rs1211347843
|
0.00001
|
NM_001267550.2(TTN):c.42055C>T (p.Arg14019Cys)
|
rs763499817
|
0.00001
|
NM_001267550.2(TTN):c.42840T>G (p.Asp14280Glu)
|
rs760643071
|
0.00001
|
NM_001267550.2(TTN):c.43989G>T (p.Lys14663Asn)
|
rs781378924
|
0.00001
|
NM_001267550.2(TTN):c.4442T>C (p.Val1481Ala)
|
rs1252349535
|
0.00001
|
NM_001267550.2(TTN):c.45895G>A (p.Glu15299Lys)
|
rs397517582
|
0.00001
|
NM_001267550.2(TTN):c.46846A>G (p.Thr15616Ala)
|
rs794727331
|
0.00001
|
NM_001267550.2(TTN):c.47662G>A (p.Gly15888Arg)
|
rs566975986
|
0.00001
|
NM_001267550.2(TTN):c.49707G>T (p.Arg16569Ser)
|
rs879180534
|
0.00001
|
NM_001267550.2(TTN):c.50258G>A (p.Gly16753Glu)
|
rs774047061
|
0.00001
|
NM_001267550.2(TTN):c.51587G>T (p.Arg17196Ile)
|
rs751398376
|
0.00001
|
NM_001267550.2(TTN):c.52411C>T (p.Pro17471Ser)
|
rs551867239
|
0.00001
|
NM_001267550.2(TTN):c.52526G>A (p.Arg17509His)
|
rs886055267
|
0.00001
|
NM_001267550.2(TTN):c.53219G>A (p.Gly17740Asp)
|
rs1219250375
|
0.00001
|
NM_001267550.2(TTN):c.54632C>G (p.Pro18211Arg)
|
rs764772164
|
0.00001
|
NM_001267550.2(TTN):c.54653G>A (p.Arg18218Gln)
|
rs143643360
|
0.00001
|
NM_001267550.2(TTN):c.57832A>G (p.Ile19278Val)
|
rs56025724
|
0.00001
|
NM_001267550.2(TTN):c.59003C>T (p.Pro19668Leu)
|
rs794729465
|
0.00001
|
NM_001267550.2(TTN):c.59176G>A (p.Glu19726Lys)
|
rs1356102019
|
0.00001
|
NM_001267550.2(TTN):c.61760C>G (p.Thr20587Arg)
|
rs757267029
|
0.00001
|
NM_001267550.2(TTN):c.6192T>G (p.Phe2064Leu)
|
rs759437501
|
0.00001
|
NM_001267550.2(TTN):c.63227C>T (p.Thr21076Ile)
|
rs972090108
|
0.00001
|
NM_001267550.2(TTN):c.65786A>G (p.Lys21929Arg)
|
rs1465791266
|
0.00001
|
NM_001267550.2(TTN):c.65864-7C>T
|
rs1416710271
|
0.00001
|
NM_001267550.2(TTN):c.66479C>T (p.Pro22160Leu)
|
rs777364605
|
0.00001
|
NM_001267550.2(TTN):c.66610G>A (p.Val22204Met)
|
rs376238023
|
0.00001
|
NM_001267550.2(TTN):c.68300C>T (p.Pro22767Leu)
|
rs775953148
|
0.00001
|
NM_001267550.2(TTN):c.6866T>G (p.Ile2289Ser)
|
rs200440412
|
0.00001
|
NM_001267550.2(TTN):c.69337C>T (p.Arg23113Trp)
|
rs749409444
|
0.00001
|
NM_001267550.2(TTN):c.69959A>G (p.Asn23320Ser)
|
rs756468956
|
0.00001
|
NM_001267550.2(TTN):c.70181C>T (p.Thr23394Met)
|
rs397517683
|
0.00001
|
NM_001267550.2(TTN):c.70843G>A (p.Ala23615Thr)
|
rs574614034
|
0.00001
|
NM_001267550.2(TTN):c.71731A>G (p.Lys23911Glu)
|
rs763131148
|
0.00001
|
NM_001267550.2(TTN):c.73024A>G (p.Ile24342Val)
|
rs1051443527
|
0.00001
|
NM_001267550.2(TTN):c.74063G>A (p.Arg24688His)
|
rs376988498
|
0.00001
|
NM_001267550.2(TTN):c.75053T>C (p.Val25018Ala)
|
rs745832906
|
0.00001
|
NM_001267550.2(TTN):c.76565T>C (p.Ile25522Thr)
|
rs372963832
|
0.00001
|
NM_001267550.2(TTN):c.76952T>C (p.Val25651Ala)
|
rs370768049
|
0.00001
|
NM_001267550.2(TTN):c.76994T>G (p.Leu25665Arg)
|
rs188012906
|
0.00001
|
NM_001267550.2(TTN):c.79636A>G (p.Thr26546Ala)
|
rs775053902
|
0.00001
|
NM_001267550.2(TTN):c.82070C>G (p.Thr27357Arg)
|
rs754175266
|
0.00001
|
NM_001267550.2(TTN):c.83674G>A (p.Gly27892Ser)
|
rs765177625
|
0.00001
|
NM_001267550.2(TTN):c.85195G>A (p.Glu28399Lys)
|
rs397517732
|
0.00001
|
NM_001267550.2(TTN):c.88156A>T (p.Ser29386Cys)
|
rs727505102
|
0.00001
|
NM_001267550.2(TTN):c.8821A>G (p.Met2941Val)
|
rs1344696996
|
0.00001
|
NM_001267550.2(TTN):c.89207G>C (p.Gly29736Ala)
|
rs1454670479
|
0.00001
|
NM_001267550.2(TTN):c.91813T>A (p.Ser30605Thr)
|
rs984360776
|
0.00001
|
NM_001267550.2(TTN):c.93288T>C (p.Tyr31096=)
|
rs1280272876
|
0.00001
|
NM_001267550.2(TTN):c.95085G>T (p.Gly31695=)
|
rs746787955
|
0.00001
|
NM_001267550.2(TTN):c.95119G>C (p.Asp31707His)
|
rs1360232560
|
0.00001
|
NM_001267550.2(TTN):c.96020A>G (p.Glu32007Gly)
|
rs1205390409
|
0.00001
|
NM_001267550.2(TTN):c.96551T>C (p.Ile32184Thr)
|
rs952755219
|
0.00001
|
NM_001267550.2(TTN):c.96872C>T (p.Thr32291Ile)
|
rs780461366
|
0.00001
|
NM_001267550.2(TTN):c.9770G>A (p.Arg3257His)
|
rs535876380
|
0.00001
|
NM_001267550.2(TTN):c.98404C>A (p.Pro32802Thr)
|
rs1165279106
|
0.00001
|
NM_001267550.2(TTN):c.98774G>A (p.Gly32925Asp)
|
rs763528740
|
0.00001
|
NM_001267550.2(TTN):c.99955G>A (p.Gly33319Arg)
|
rs72648279
|
0.00001
|
NM_001271.4(CHD2):c.1693A>G (p.Ile565Val)
|
rs1060503518
|
0.00001
|
NM_001271.4(CHD2):c.5120G>A (p.Arg1707Gln)
|
rs61759469
|
0.00001
|
NM_001278064.2(GRM1):c.113T>C (p.Val38Ala)
|
rs374907798
|
0.00001
|
NM_001278064.2(GRM1):c.1754A>G (p.Tyr585Cys)
|
rs754787480
|
0.00001
|
NM_001278064.2(GRM1):c.2062G>A (p.Gly688Ser)
|
rs965990929
|
0.00001
|
NM_001278064.2(GRM1):c.2087G>A (p.Arg696Gln)
|
rs746003735
|
0.00001
|
NM_001278064.2(GRM1):c.2252T>A (p.Leu751Gln)
|
rs767615613
|
0.00001
|
NM_001278064.2(GRM1):c.3408A>G (p.Lys1136=)
|
rs1040774327
|
0.00001
|
NM_001278064.2(GRM1):c.41T>G (p.Leu14Trp)
|
rs774851565
|
0.00001
|
NM_001278064.2(GRM1):c.722T>C (p.Met241Thr)
|
rs768616151
|
0.00001
|
NM_001278116.2(L1CAM):c.3654G>C (p.Gln1218His)
|
rs1369743518
|
0.00001
|
NM_001292063.2(OTOG):c.365C>T (p.Thr122Ile)
|
rs1403454339
|
0.00001
|
NM_001293298.2(CEMIP):c.3311C>T (p.Thr1104Met)
|
rs376164357
|
0.00001
|
NM_001330260.2(SCN8A):c.1507C>G (p.Leu503Val)
|
rs1022856027
|
0.00001
|
NM_001330260.2(SCN8A):c.3345C>T (p.Ser1115=)
|
rs745966369
|
0.00001
|
NM_001330260.2(SCN8A):c.5675G>A (p.Arg1892His)
|
rs1565934531
|
0.00001
|
NM_001347702.2(SYNE1):c.1447A>T (p.Met483Leu)
|
rs372305836
|
0.00001
|
NM_001347721.2(DYRK1A):c.1947G>A (p.Leu649=)
|
rs767266728
|
0.00001
|
NM_001353921.2(ARHGEF9):c.1474G>A (p.Gly492Ser)
|
rs1365914320
|
0.00001
|
NM_001365536.1(SCN9A):c.5157A>T (p.Lys1719Asn)
|
rs749848631
|
0.00001
|
NM_001365536.1(SCN9A):c.5425C>G (p.Leu1809Val)
|
rs199954555
|
0.00001
|
NM_001365999.1(SZT2):c.1487C>T (p.Thr496Met)
|
rs781377160
|
0.00001
|
NM_001365999.1(SZT2):c.629A>G (p.Gln210Arg)
|
rs1557531808
|
0.00001
|
NM_001365999.1(SZT2):c.7681T>C (p.Phe2561Leu)
|
rs148506515
|
0.00001
|
NM_001365999.1(SZT2):c.7718G>C (p.Ser2573Thr)
|
rs755325371
|
0.00001
|
NM_001367561.1(DOCK7):c.-1C>T
|
rs1181335941
|
0.00001
|
NM_001370298.3(FGD4):c.1102-5T>A
|
rs1459339879
|
0.00001
|
NM_001370298.3(FGD4):c.2509C>A (p.Pro837Thr)
|
rs756057996
|
0.00001
|
NM_001371279.1(REEP1):c.521G>C (p.Gly174Ala)
|
rs1279009965
|
0.00001
|
NM_001376.5(DYNC1H1):c.13408C>T (p.Pro4470Ser)
|
rs150906249
|
0.00001
|
NM_001376.5(DYNC1H1):c.6986A>G (p.Asn2329Ser)
|
rs142335110
|
0.00001
|
NM_001376.5(DYNC1H1):c.8954G>C (p.Cys2985Ser)
|
rs1269870036
|
0.00001
|
NM_001378030.1(CCDC78):c.1136G>A (p.Gly379Asp)
|
rs1296158476
|
0.00001
|
NM_001378120.1(MBD5):c.415C>T (p.Pro139Ser)
|
rs1472737578
|
0.00001
|
NM_001378120.1(MBD5):c.4193G>A (p.Arg1398Gln)
|
rs727503999
|
0.00001
|
NM_001378452.1(ITPR1):c.1152-6T>C
|
rs752886993
|
0.00001
|
NM_001378452.1(ITPR1):c.1240G>A (p.Val414Met)
|
rs1462970629
|
0.00001
|
NM_001378452.1(ITPR1):c.2225C>T (p.Ala742Val)
|
rs779996062
|
0.00001
|
NM_001378452.1(ITPR1):c.2980G>A (p.Val994Met)
|
rs776228202
|
0.00001
|
NM_001378452.1(ITPR1):c.3277C>T (p.Leu1093Phe)
|
rs1278034455
|
0.00001
|
NM_001378452.1(ITPR1):c.4483A>G (p.Ile1495Val)
|
rs769648295
|
0.00001
|
NM_001378452.1(ITPR1):c.4640G>A (p.Arg1547Gln)
|
rs1250105592
|
0.00001
|
NM_001378452.1(ITPR1):c.5228C>T (p.Ala1743Val)
|
rs747201343
|
0.00001
|
NM_001378452.1(ITPR1):c.5266G>A (p.Val1756Ile)
|
rs763787819
|
0.00001
|
NM_001378452.1(ITPR1):c.5301C>A (p.Ser1767Arg)
|
rs758372914
|
0.00001
|
NM_001378452.1(ITPR1):c.5789C>A (p.Ala1930Asp)
|
rs535969136
|
0.00001
|
NM_001378452.1(ITPR1):c.5867C>T (p.Ala1956Val)
|
rs769041115
|
0.00001
|
NM_001378452.1(ITPR1):c.6808+4G>A
|
rs746724784
|
0.00001
|
NM_001378452.1(ITPR1):c.7180A>G (p.Met2394Val)
|
rs905034632
|
0.00001
|
NM_001378452.1(ITPR1):c.7707C>A (p.Pro2569=)
|
rs1371333593
|
0.00001
|
NM_001378452.1(ITPR1):c.806G>A (p.Arg269Gln)
|
rs760588490
|
0.00001
|
NM_001378609.3(OTOGL):c.4823C>T (p.Pro1608Leu)
|
rs1467973613
|
0.00001
|
NM_001378969.1(KCND3):c.1277G>A (p.Arg426His)
|
rs760274429
|
0.00001
|
NM_001378969.1(KCND3):c.1427A>G (p.His476Arg)
|
rs1571626155
|
0.00001
|
NM_001378969.1(KCND3):c.1697G>A (p.Arg566His)
|
rs761867267
|
0.00001
|
NM_001378969.1(KCND3):c.553T>C (p.Phe185Leu)
|
rs1219355757
|
0.00001
|
NM_001382.4(DPAGT1):c.868C>G (p.Leu290Val)
|
rs376322200
|
0.00001
|
NM_001384140.1(PCDH15):c.1172A>G (p.Gln391Arg)
|
rs758680936
|
0.00001
|
NM_001458.5(FLNC):c.5544C>T (p.Ser1848=)
|
rs1350503435
|
0.00001
|
NM_001482.3(GATM):c.814-3C>T
|
rs1262428448
|
0.00001
|
NM_001845.6(COL4A1):c.1091C>T (p.Pro364Leu)
|
rs755483519
|
0.00001
|
NM_001845.6(COL4A1):c.3581C>T (p.Pro1194Leu)
|
rs372606485
|
0.00001
|
NM_001848.3(COL6A1):c.680C>T (p.Ala227Val)
|
rs770597799
|
0.00001
|
NM_001854.4(COL11A1):c.3923C>T (p.Pro1308Leu)
|
rs769308801
|
0.00001
|
NM_001927.4(DES):c.286G>T (p.Ala96Ser)
|
rs201190593
|
0.00001
|
NM_001961.4(EEF2):c.1168C>G (p.Pro390Ala)
|
rs762878861
|
0.00001
|
NM_001961.4(EEF2):c.128C>T (p.Ala43Val)
|
rs768918548
|
0.00001
|
NM_001961.4(EEF2):c.2176C>T (p.Arg726Trp)
|
rs752178810
|
0.00001
|
NM_001961.4(EEF2):c.637G>T (p.Gly213Cys)
|
rs773181804
|
0.00001
|
NM_001961.4(EEF2):c.712G>A (p.Ala238Thr)
|
rs575523824
|
0.00001
|
NM_002047.4(GARS1):c.1905G>A (p.Ser635=)
|
rs773889809
|
0.00001
|
NM_002047.4(GARS1):c.2159A>C (p.Glu720Ala)
|
rs530891983
|
0.00001
|
NM_002047.4(GARS1):c.401A>G (p.Tyr134Cys)
|
rs898879117
|
0.00001
|
NM_002055.5(GFAP):c.546C>T (p.Ala182=)
|
rs1190065571
|
0.00001
|
NM_002087.4(GRN):c.1448C>T (p.Pro483Leu)
|
rs774128685
|
0.00001
|
NM_002087.4(GRN):c.928A>C (p.Thr310Pro)
|
rs969767392
|
0.00001
|
NM_002156.5(HSPD1):c.1426G>T (p.Ala476Ser)
|
rs375600770
|
0.00001
|
NM_002180.3(IGHMBP2):c.1348C>T (p.Arg450Cys)
|
rs374363750
|
0.00001
|
NM_002241.5(KCNJ10):c.427G>A (p.Ala143Thr)
|
rs796052607
|
0.00001
|
NM_002547.3(OPHN1):c.2170A>G (p.Ser724Gly)
|
rs760163301
|
0.00001
|
NM_002547.3(OPHN1):c.2249G>A (p.Arg750Gln)
|
rs765116282
|
0.00001
|
NM_002547.3(OPHN1):c.2316A>G (p.Thr772=)
|
rs1403350105
|
0.00001
|
NM_002693.3(POLG):c.1061A>G (p.Asn354Ser)
|
rs148697152
|
0.00001
|
NM_002693.3(POLG):c.1936G>T (p.Val646Phe)
|
rs757131755
|
0.00001
|
NM_002693.3(POLG):c.1976A>C (p.His659Pro)
|
rs1325564562
|
0.00001
|
NM_002693.3(POLG):c.2195A>G (p.Tyr732Cys)
|
rs760305786
|
0.00001
|
NM_002693.3(POLG):c.2215T>C (p.Tyr739His)
|
rs796052885
|
0.00001
|
NM_002693.3(POLG):c.2608G>C (p.Val870Leu)
|
rs1329611992
|
0.00001
|
NM_002693.3(POLG):c.2725G>A (p.Gly909Ser)
|
rs758419140
|
0.00001
|
NM_002693.3(POLG):c.3046G>A (p.Glu1016Lys)
|
rs763290547
|
0.00001
|
NM_002693.3(POLG):c.3073C>A (p.Leu1025Met)
|
rs1421324049
|
0.00001
|
NM_002693.3(POLG):c.3257C>T (p.Ser1086Leu)
|
rs373316463
|
0.00001
|
NM_002693.3(POLG):c.3323A>T (p.Tyr1108Phe)
|
rs765949668
|
0.00001
|
NM_002693.3(POLG):c.38C>G (p.Thr13Ser)
|
rs1199924512
|
0.00001
|
NM_002693.3(POLG):c.453G>A (p.Leu151=)
|
rs779981823
|
0.00001
|
NM_002693.3(POLG):c.609G>C (p.Leu203Phe)
|
rs796052900
|
0.00001
|
NM_002693.3(POLG):c.726T>A (p.Ala242=)
|
rs2055576134
|
0.00001
|
NM_002693.3(POLG):c.869G>A (p.Arg290His)
|
rs146603953
|
0.00001
|
NM_002693.3(POLG):c.86C>G (p.Ser29Cys)
|
rs796052895
|
0.00001
|
NM_002739.5(PRKCG):c.974C>T (p.Pro325Leu)
|
rs145197557
|
0.00001
|
NM_002968.3(SALL1):c.2825C>A (p.Pro942His)
|
rs751069468
|
0.00001
|
NM_003119.4(SPG7):c.1175G>A (p.Ser392Asn)
|
rs745459731
|
0.00001
|
NM_003119.4(SPG7):c.1552+2dup
|
rs1567928509
|
0.00001
|
NM_003482.4(KMT2D):c.13118G>A (p.Gly4373Asp)
|
rs770966197
|
0.00001
|
NM_003482.4(KMT2D):c.14972G>A (p.Arg4991Gln)
|
rs761108868
|
0.00001
|
NM_003482.4(KMT2D):c.6884C>T (p.Ser2295Phe)
|
rs758685548
|
0.00001
|
NM_003482.4(KMT2D):c.7787C>T (p.Pro2596Leu)
|
rs756597120
|
0.00001
|
NM_003482.4(KMT2D):c.8789C>T (p.Pro2930Leu)
|
rs777025180
|
0.00001
|
NM_003680.4(YARS1):c.166A>G (p.Met56Val)
|
rs141115281
|
0.00001
|
NM_003680.4(YARS1):c.190A>C (p.Lys64Gln)
|
rs1322723317
|
0.00001
|
NM_003680.4(YARS1):c.277C>T (p.Arg93Ter)
|
rs781579762
|
0.00001
|
NM_003680.4(YARS1):c.709C>T (p.Arg237Trp)
|
rs1385295171
|
0.00001
|
NM_003793.4(CTSF):c.1252C>T (p.Arg418Cys)
|
rs761039140
|
0.00001
|
NM_003900.5(SQSTM1):c.1052G>C (p.Gly351Ala)
|
rs1355424687
|
0.00001
|
NM_004004.6(GJB2):c.14C>T (p.Thr5Met)
|
rs781085903
|
0.00001
|
NM_004004.6(GJB2):c.188T>C (p.Val63Ala)
|
rs727504309
|
0.00001
|
NM_004006.3(DMD):c.-192C>T
|
rs2051914908
|
0.00001
|
NM_004006.3(DMD):c.1112A>G (p.Asp371Gly)
|
rs770239678
|
0.00001
|
NM_004006.3(DMD):c.3239A>G (p.Asp1080Gly)
|
rs886043493
|
0.00001
|
NM_004100.5(EYA4):c.1434G>T (p.Met478Ile)
|
rs1187396214
|
0.00001
|
NM_004115.4(FGF14):c.256C>A (p.His86Asn)
|
rs758950207
|
0.00001
|
NM_004172.5(SLC1A3):c.1046T>C (p.Ile349Thr)
|
rs760669339
|
0.00001
|
NM_004172.5(SLC1A3):c.212A>G (p.Tyr71Cys)
|
rs573483474
|
0.00001
|
NM_004172.5(SLC1A3):c.560T>A (p.Phe187Tyr)
|
rs1742105604
|
0.00001
|
NM_004172.5(SLC1A3):c.770T>C (p.Ile257Thr)
|
rs145397429
|
0.00001
|
NM_004172.5(SLC1A3):c.803G>A (p.Arg268Lys)
|
rs1371499415
|
0.00001
|
NM_004172.5(SLC1A3):c.954C>A (p.Thr318=)
|
rs528899789
|
0.00001
|
NM_004320.6(ATP2A1):c.2902C>T (p.Leu968Phe)
|
rs1403323589
|
0.00001
|
NM_004369.4(COL6A3):c.3575G>A (p.Arg1192His)
|
rs776312405
|
0.00001
|
NM_004393.6(DAG1):c.1015G>A (p.Val339Met)
|
rs763537489
|
0.00001
|
NM_004393.6(DAG1):c.2647A>G (p.Met883Val)
|
rs754908618
|
0.00001
|
NM_004408.4(DNM1):c.*6T>A
|
rs766139015
|
0.00001
|
NM_004519.4(KCNQ3):c.1709T>C (p.Met570Thr)
|
rs199999939
|
0.00001
|
NM_004526.4(MCM2):c.1213A>G (p.Ser405Gly)
|
rs772049358
|
0.00001
|
NM_004595.5(SMS):c.330-10C>G
|
rs1460331906
|
0.00001
|
NM_004621.6(TRPC6):c.643C>T (p.Arg215Trp)
|
rs768210838
|
0.00001
|
NM_004646.4(NPHS1):c.1850A>G (p.His617Arg)
|
rs764058957
|
0.00001
|
NM_004646.4(NPHS1):c.2054G>A (p.Gly685Asp)
|
rs1161340572
|
0.00001
|
NM_004820.5(CYP7B1):c.956G>T (p.Arg319Leu)
|
rs767826482
|
0.00001
|
NM_004960.4(FUS):c.1168+6G>C
|
rs750980752
|
0.00001
|
NM_004974.4(KCNA2):c.1433A>G (p.Lys478Arg)
|
rs1243868138
|
0.00001
|
NM_004977.3(KCNC3):c.2023G>A (p.Glu675Lys)
|
rs758477949
|
0.00001
|
NM_004977.3(KCNC3):c.991G>A (p.Gly331Arg)
|
rs1305901422
|
0.00001
|
NM_005045.4(RELN):c.7897G>A (p.Glu2633Lys)
|
rs958494439
|
0.00001
|
NM_005045.4(RELN):c.8158G>A (p.Glu2720Lys)
|
rs1554367200
|
0.00001
|
NM_005271.5(GLUD1):c.921+15A>C
|
rs1223770359
|
0.00001
|
NM_005477.3(HCN4):c.3448G>A (p.Val1150Ile)
|
rs772491303
|
0.00001
|
NM_005506.4(SCARB2):c.1039G>A (p.Glu347Lys)
|
rs559054010
|
0.00001
|
NM_005529.7(HSPG2):c.10309G>T (p.Gly3437Trp)
|
rs1265080496
|
0.00001
|
NM_005529.7(HSPG2):c.11819C>T (p.Ala3940Val)
|
rs764345932
|
0.00001
|
NM_005529.7(HSPG2):c.12773A>G (p.Asp4258Gly)
|
rs756568323
|
0.00001
|
NM_005529.7(HSPG2):c.2402G>A (p.Gly801Glu)
|
rs759055154
|
0.00001
|
NM_005529.7(HSPG2):c.362C>T (p.Ser121Leu)
|
rs780963482
|
0.00001
|
NM_005529.7(HSPG2):c.4061A>G (p.Gln1354Arg)
|
rs1021698423
|
0.00001
|
NM_005529.7(HSPG2):c.4226C>T (p.Ala1409Val)
|
rs746918802
|
0.00001
|
NM_005529.7(HSPG2):c.5638G>A (p.Gly1880Arg)
|
rs755793917
|
0.00001
|
NM_005529.7(HSPG2):c.6119T>A (p.Val2040Glu)
|
rs538015199
|
0.00001
|
NM_005529.7(HSPG2):c.6161A>G (p.Lys2054Arg)
|
rs758801322
|
0.00001
|
NM_005529.7(HSPG2):c.6308G>A (p.Arg2103Gln)
|
rs751330969
|
0.00001
|
NM_005529.7(HSPG2):c.6484C>T (p.His2162Tyr)
|
rs757056213
|
0.00001
|
NM_005529.7(HSPG2):c.6516C>A (p.Asn2172Lys)
|
rs751315560
|
0.00001
|
NM_005529.7(HSPG2):c.7389G>A (p.Gln2463=)
|
rs1183628323
|
0.00001
|
NM_005529.7(HSPG2):c.7394A>G (p.His2465Arg)
|
rs1327744845
|
0.00001
|
NM_005529.7(HSPG2):c.833G>T (p.Gly278Val)
|
rs766807669
|
0.00001
|
NM_005529.7(HSPG2):c.9154A>G (p.Ile3052Val)
|
rs764834261
|
0.00001
|
NM_005529.7(HSPG2):c.9274G>A (p.Val3092Met)
|
rs369024085
|
0.00001
|
NM_005591.4(MRE11):c.1154T>C (p.Phe385Ser)
|
rs786201817
|
0.00001
|
NM_005591.4(MRE11):c.1238A>G (p.Asn413Ser)
|
rs587782457
|
0.00001
|
NM_005591.4(MRE11):c.1478T>G (p.Leu493Arg)
|
rs786203158
|
0.00001
|
NM_005591.4(MRE11):c.1499A>T (p.Glu500Val)
|
rs786203159
|
0.00001
|
NM_005591.4(MRE11):c.1699A>G (p.Asn567Asp)
|
rs778585671
|
0.00001
|
NM_005591.4(MRE11):c.1718G>A (p.Gly573Glu)
|
rs587781461
|
0.00001
|
NM_005591.4(MRE11):c.1875A>C (p.Lys625Asn)
|
rs907660509
|
0.00001
|
NM_005591.4(MRE11):c.250A>G (p.Met84Val)
|
rs786203222
|
0.00001
|
NM_005591.4(MRE11):c.826C>T (p.Pro276Ser)
|
rs587782742
|
0.00001
|
NM_005591.4(MRE11):c.83A>C (p.Lys28Thr)
|
rs876658611
|
0.00001
|
NM_005619.5(RTN2):c.1322C>T (p.Ser441Leu)
|
rs755367786
|
0.00001
|
NM_005619.5(RTN2):c.389C>T (p.Ala130Val)
|
rs745409162
|
0.00001
|
NM_005619.5(RTN2):c.79+6T>A
|
rs749104931
|
0.00001
|
NM_005619.5(RTN2):c.916G>A (p.Val306Ile)
|
rs181791404
|
0.00001
|
NM_005629.4(SLC6A8):c.1319G>A (p.Arg440His)
|
rs781925657
|
0.00001
|
NM_005881.4(BCKDK):c.529C>T (p.Arg177Trp)
|
rs774302251
|
0.00001
|
NM_006096.4(NDRG1):c.1085G>A (p.Ser362Asn)
|
rs749124058
|
0.00001
|
NM_006096.4(NDRG1):c.1153G>A (p.Ala385Thr)
|
rs1276408714
|
0.00001
|
NM_006158.5(NEFL):c.202C>G (p.Leu68Val)
|
rs1328701916
|
0.00001
|
NM_006158.5(NEFL):c.490C>G (p.Arg164Gly)
|
rs752771636
|
0.00001
|
NM_006493.4(CLN5):c.-74T>C
|
rs1182554801
|
0.00001
|
NM_006493.4(CLN5):c.904A>G (p.Lys302Glu)
|
rs1060502320
|
0.00001
|
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln)
|
rs1223430276
|
0.00001
|
NM_006790.3(MYOT):c.1222T>C (p.Leu408=)
|
rs886059968
|
0.00001
|
NM_006796.3(AFG3L2):c.1814A>G (p.Tyr605Cys)
|
rs773240455
|
0.00001
|
NM_006796.3(AFG3L2):c.1820A>G (p.Gln607Arg)
|
rs774546735
|
0.00001
|
NM_006796.3(AFG3L2):c.31C>G (p.Arg11Gly)
|
rs1050447923
|
0.00001
|
NM_006796.3(AFG3L2):c.365A>T (p.Lys122Ile)
|
rs915684170
|
0.00001
|
NM_006946.4(SPTBN2):c.1073+4G>A
|
rs539652266
|
0.00001
|
NM_006946.4(SPTBN2):c.1129C>T (p.Arg377Trp)
|
rs199861592
|
0.00001
|
NM_006946.4(SPTBN2):c.1511C>G (p.Ala504Gly)
|
rs1454805342
|
0.00001
|
NM_006946.4(SPTBN2):c.1786C>T (p.Arg596Cys)
|
rs533645041
|
0.00001
|
NM_006946.4(SPTBN2):c.2006C>T (p.Thr669Met)
|
rs775522542
|
0.00001
|
NM_006946.4(SPTBN2):c.2383G>A (p.Glu795Lys)
|
rs1387465998
|
0.00001
|
NM_006946.4(SPTBN2):c.2464G>A (p.Glu822Lys)
|
rs771402351
|
0.00001
|
NM_006946.4(SPTBN2):c.2602G>A (p.Val868Met)
|
rs1424804035
|
0.00001
|
NM_006946.4(SPTBN2):c.3281C>T (p.Pro1094Leu)
|
rs748499520
|
0.00001
|
NM_006946.4(SPTBN2):c.3667G>A (p.Ala1223Thr)
|
rs765368981
|
0.00001
|
NM_006946.4(SPTBN2):c.3883G>A (p.Asp1295Asn)
|
rs1449778004
|
0.00001
|
NM_006946.4(SPTBN2):c.4833G>C (p.Met1611Ile)
|
rs1328577241
|
0.00001
|
NM_006946.4(SPTBN2):c.4960A>G (p.Met1654Val)
|
rs1258204858
|
0.00001
|
NM_006946.4(SPTBN2):c.5003G>A (p.Arg1668His)
|
rs746585059
|
0.00001
|
NM_006946.4(SPTBN2):c.5032G>A (p.Gly1678Ser)
|
rs768814631
|
0.00001
|
NM_006946.4(SPTBN2):c.5102G>A (p.Arg1701His)
|
rs907900432
|
0.00001
|
NM_006946.4(SPTBN2):c.5138G>A (p.Arg1713His)
|
rs753738305
|
0.00001
|
NM_006946.4(SPTBN2):c.5284A>G (p.Ile1762Val)
|
rs569231673
|
0.00001
|
NM_006946.4(SPTBN2):c.5540A>G (p.His1847Arg)
|
rs765894915
|
0.00001
|
NM_006946.4(SPTBN2):c.5749C>T (p.Arg1917Trp)
|
rs868609865
|
0.00001
|
NM_006946.4(SPTBN2):c.5846A>G (p.Gln1949Arg)
|
rs1940417909
|
0.00001
|
NM_006946.4(SPTBN2):c.5978C>T (p.Ala1993Val)
|
rs368415742
|
0.00001
|
NM_006946.4(SPTBN2):c.6720C>T (p.Asn2240=)
|
rs754536144
|
0.00001
|
NM_006946.4(SPTBN2):c.6802G>A (p.Val2268Met)
|
rs750623875
|
0.00001
|
NM_006946.4(SPTBN2):c.7030A>C (p.Ser2344Arg)
|
rs148840695
|
0.00001
|
NM_006946.4(SPTBN2):c.752C>T (p.Thr251Ile)
|
rs373650492
|
0.00001
|
NM_006950.3(SYN1):c.2112C>T (p.Ser704=)
|
rs1227806166
|
0.00001
|
NM_006950.3(SYN1):c.334G>T (p.Ala112Ser)
|
rs764283680
|
0.00001
|
NM_007126.5(VCP):c.18-4C>G
|
rs1563981227
|
0.00001
|
NM_007126.5(VCP):c.1973A>C (p.Lys658Thr)
|
rs1284380722
|
0.00001
|
NM_007126.5(VCP):c.697A>G (p.Ile233Val)
|
rs750335399
|
0.00001
|
NM_007327.4(GRIN1):c.2442C>T (p.Ala814=)
|
rs773708731
|
0.00001
|
NM_012210.4(TRIM32):c.938C>T (p.Ala313Val)
|
rs794727284
|
0.00001
|
NM_012233.3(RAB3GAP1):c.460A>G (p.Ile154Val)
|
rs750345824
|
0.00001
|
NM_012301.4(MAGI2):c.1425T>C (p.Tyr475=)
|
rs148086431
|
0.00001
|
NM_012301.4(MAGI2):c.3022C>T (p.Pro1008Ser)
|
rs764279398
|
0.00001
|
NM_013275.6(ANKRD11):c.1994A>G (p.Lys665Arg)
|
rs769640583
|
0.00001
|
NM_013275.6(ANKRD11):c.6046C>T (p.Pro2016Ser)
|
rs1449729767
|
0.00001
|
NM_013275.6(ANKRD11):c.6377G>A (p.Gly2126Asp)
|
rs763100566
|
0.00001
|
NM_013275.6(ANKRD11):c.6704C>T (p.Pro2235Leu)
|
rs1394383095
|
0.00001
|
NM_013382.7(POMT2):c.1843A>G (p.Ile615Val)
|
rs762148813
|
0.00001
|
NM_013382.7(POMT2):c.1870C>T (p.Arg624Trp)
|
rs749335757
|
0.00001
|
NM_013382.7(POMT2):c.275T>C (p.Met92Thr)
|
rs775489616
|
0.00001
|
NM_013444.4(UBQLN2):c.522G>A (p.Gln174=)
|
rs1271536440
|
0.00001
|
NM_014053.4(FLVCR1):c.-7C>T
|
rs1323079807
|
0.00001
|
NM_014053.4(FLVCR1):c.1506T>G (p.Phe502Leu)
|
rs369869680
|
0.00001
|
NM_014053.4(FLVCR1):c.169C>G (p.Leu57Val)
|
rs1039497994
|
0.00001
|
NM_014053.4(FLVCR1):c.18T>A (p.Asp6Glu)
|
rs1029247819
|
0.00001
|
NM_014053.4(FLVCR1):c.488C>T (p.Pro163Leu)
|
rs369434267
|
0.00001
|
NM_014053.4(FLVCR1):c.785A>G (p.Asn262Ser)
|
rs547679833
|
0.00001
|
NM_014159.7(SETD2):c.1688T>C (p.Ile563Thr)
|
rs202178837
|
0.00001
|
NM_014159.7(SETD2):c.7444A>G (p.Ile2482Val)
|
rs761150552
|
0.00001
|
NM_014363.6(SACS):c.11207T>C (p.Met3736Thr)
|
rs759433888
|
0.00001
|
NM_014363.6(SACS):c.11887A>G (p.Met3963Val)
|
rs375613914
|
0.00001
|
NM_014363.6(SACS):c.13273G>A (p.Gly4425Arg)
|
rs754693143
|
0.00001
|
NM_014363.6(SACS):c.13282T>G (p.Tyr4428Asp)
|
rs886050071
|
0.00001
|
NM_014363.6(SACS):c.1846G>C (p.Ala616Pro)
|
rs200437752
|
0.00001
|
NM_014363.6(SACS):c.2092A>T (p.Arg698Trp)
|
rs965068037
|
0.00001
|
NM_014363.6(SACS):c.2471C>T (p.Ser824Leu)
|
rs762821420
|
0.00001
|
NM_014363.6(SACS):c.2585C>T (p.Pro862Leu)
|
rs776290829
|
0.00001
|
NM_014363.6(SACS):c.2611C>T (p.Pro871Ser)
|
rs370103461
|
0.00001
|
NM_014363.6(SACS):c.3017A>G (p.His1006Arg)
|
rs368149368
|
0.00001
|
NM_014363.6(SACS):c.3506G>C (p.Gly1169Ala)
|
rs1443000762
|
0.00001
|
NM_014363.6(SACS):c.4597T>G (p.Ser1533Ala)
|
rs1230237404
|
0.00001
|
NM_014363.6(SACS):c.4628A>G (p.Glu1543Gly)
|
rs370324250
|
0.00001
|
NM_014363.6(SACS):c.4639A>T (p.Arg1547Trp)
|
rs772907934
|
0.00001
|
NM_014363.6(SACS):c.47G>T (p.Gly16Val)
|
rs886050090
|
0.00001
|
NM_014363.6(SACS):c.482A>G (p.Asn161Ser)
|
rs746069731
|
0.00001
|
NM_014363.6(SACS):c.4840T>C (p.Phe1614Leu)
|
rs771080306
|
0.00001
|
NM_014363.6(SACS):c.4846A>C (p.Asn1616His)
|
rs979327782
|
0.00001
|
NM_014363.6(SACS):c.4913G>A (p.Ser1638Asn)
|
rs774163551
|
0.00001
|
NM_014363.6(SACS):c.5732C>T (p.Thr1911Met)
|
rs368494148
|
0.00001
|
NM_014363.6(SACS):c.593A>G (p.Tyr198Cys)
|
rs1461096954
|
0.00001
|
NM_014363.6(SACS):c.6776C>T (p.Pro2259Leu)
|
rs150098233
|
0.00001
|
NM_014363.6(SACS):c.6778A>G (p.Ile2260Val)
|
rs202110208
|
0.00001
|
NM_014363.6(SACS):c.6993A>T (p.Glu2331Asp)
|
rs759201960
|
0.00001
|
NM_014363.6(SACS):c.7262T>A (p.Phe2421Tyr)
|
rs1213144547
|
0.00001
|
NM_014363.6(SACS):c.7282A>G (p.Ile2428Val)
|
rs1007936574
|
0.00001
|
NM_014363.6(SACS):c.7406A>G (p.Asn2469Ser)
|
rs1288769278
|
0.00001
|
NM_014363.6(SACS):c.8233G>A (p.Glu2745Lys)
|
rs745462710
|
0.00001
|
NM_014363.6(SACS):c.8414C>T (p.Thr2805Ile)
|
rs772742353
|
0.00001
|
NM_014363.6(SACS):c.8836A>G (p.Asn2946Asp)
|
rs184407783
|
0.00001
|
NM_014363.6(SACS):c.8889C>A (p.Phe2963Leu)
|
rs776647599
|
0.00001
|
NM_014363.6(SACS):c.9677A>G (p.Tyr3226Cys)
|
rs776143384
|
0.00001
|
NM_014363.6(SACS):c.9680A>C (p.Lys3227Thr)
|
rs765635417
|
0.00001
|
NM_014625.4(NPHS2):c.965G>C (p.Arg322Pro)
|
rs776859868
|
0.00001
|
NM_014795.4(ZEB2):c.2390A>G (p.His797Arg)
|
rs201227541
|
0.00001
|
NM_014795.4(ZEB2):c.3329G>A (p.Arg1110Gln)
|
rs1346483037
|
0.00001
|
NM_014845.6(FIG4):c.1069G>A (p.Ala357Thr)
|
rs376772954
|
0.00001
|
NM_014845.6(FIG4):c.2116G>A (p.Val706Ile)
|
rs754830354
|
0.00001
|
NM_014845.6(FIG4):c.2256G>C (p.Glu752Asp)
|
rs375960403
|
0.00001
|
NM_014845.6(FIG4):c.2339A>G (p.Lys780Arg)
|
rs373590484
|
0.00001
|
NM_014845.6(FIG4):c.2444T>C (p.Phe815Ser)
|
rs375414729
|
0.00001
|
NM_014845.6(FIG4):c.244G>A (p.Gly82Arg)
|
rs774546266
|
0.00001
|
NM_014845.6(FIG4):c.2660T>C (p.Met887Thr)
|
rs780643086
|
0.00001
|
NM_014845.6(FIG4):c.2695C>T (p.Arg899Ter)
|
rs750069994
|
0.00001
|
NM_014845.6(FIG4):c.309A>C (p.Glu103Asp)
|
rs151070087
|
0.00001
|
NM_014855.3(AP5Z1):c.2015A>C (p.Glu672Ala)
|
rs370660240
|
0.00001
|
NM_014855.3(AP5Z1):c.2345A>G (p.Asp782Gly)
|
rs779642265
|
0.00001
|
NM_014855.3(AP5Z1):c.392C>T (p.Ala131Val)
|
rs372539355
|
0.00001
|
NM_014874.4(MFN2):c.1408A>G (p.Ile470Val)
|
rs776174992
|
0.00001
|
NM_014874.4(MFN2):c.163A>T (p.Thr55Ser)
|
rs776423551
|
0.00001
|
NM_014874.4(MFN2):c.1782C>T (p.Leu594=)
|
rs950932066
|
0.00001
|
NM_014874.4(MFN2):c.31A>G (p.Ile11Val)
|
rs763735861
|
0.00001
|
NM_014874.4(MFN2):c.420T>G (p.Asp140Glu)
|
rs767640801
|
0.00001
|
NM_014946.4(SPAST):c.1783A>G (p.Ser595Gly)
|
rs1553321245
|
0.00001
|
NM_015046.7(SETX):c.1579C>G (p.Pro527Ala)
|
rs774240718
|
0.00001
|
NM_015046.7(SETX):c.1670G>A (p.Arg557Gln)
|
rs548433078
|
0.00001
|
NM_015046.7(SETX):c.2005A>T (p.Asn669Tyr)
|
rs143727702
|
0.00001
|
NM_015046.7(SETX):c.2125A>G (p.Thr709Ala)
|
rs750530263
|
0.00001
|
NM_015046.7(SETX):c.2233C>T (p.Arg745Cys)
|
rs780121182
|
0.00001
|
NM_015046.7(SETX):c.2245G>A (p.Asp749Asn)
|
rs922821119
|
0.00001
|
NM_015046.7(SETX):c.2254A>G (p.Thr752Ala)
|
rs745938575
|
0.00001
|
NM_015046.7(SETX):c.2711A>G (p.Asn904Ser)
|
rs143265750
|
0.00001
|
NM_015046.7(SETX):c.3040A>G (p.Ile1014Val)
|
rs761243379
|
0.00001
|
NM_015046.7(SETX):c.3602T>C (p.Ile1201Thr)
|
rs750443804
|
0.00001
|
NM_015046.7(SETX):c.3900C>T (p.Ser1300=)
|
rs886063554
|
0.00001
|
NM_015046.7(SETX):c.4114G>C (p.Asp1372His)
|
rs1564539457
|
0.00001
|
NM_015046.7(SETX):c.4270A>G (p.Ile1424Val)
|
rs757978377
|
0.00001
|
NM_015046.7(SETX):c.4312C>T (p.Pro1438Ser)
|
rs750178634
|
0.00001
|
NM_015046.7(SETX):c.4417C>T (p.Arg1473Cys)
|
rs781185115
|
0.00001
|
NM_015046.7(SETX):c.4424T>C (p.Ile1475Thr)
|
rs765480069
|
0.00001
|
NM_015046.7(SETX):c.4432G>A (p.Ala1478Thr)
|
rs759545112
|
0.00001
|
NM_015046.7(SETX):c.5297C>A (p.Ser1766Tyr)
|
rs1434366684
|
0.00001
|
NM_015046.7(SETX):c.5503G>A (p.Glu1835Lys)
|
rs143133190
|
0.00001
|
NM_015046.7(SETX):c.6172A>C (p.Lys2058Gln)
|
rs747309962
|
0.00001
|
NM_015046.7(SETX):c.628A>G (p.Ile210Val)
|
rs1352654083
|
0.00001
|
NM_015046.7(SETX):c.6313C>T (p.Arg2105Trp)
|
rs142843968
|
0.00001
|
NM_015046.7(SETX):c.7005G>C (p.Lys2335Asn)
|
rs141657462
|
0.00001
|
NM_015046.7(SETX):c.7139G>A (p.Arg2380Gln)
|
rs145397619
|
0.00001
|
NM_015046.7(SETX):c.820A>G (p.Met274Val)
|
rs753713810
|
0.00001
|
NM_015046.7(SETX):c.866C>T (p.Ala289Val)
|
rs1237541645
|
0.00001
|
NM_015046.7(SETX):c.967A>G (p.Ser323Gly)
|
rs758625845
|
0.00001
|
NM_015087.5(SPART):c.141G>T (p.Lys47Asn)
|
rs1566133181
|
0.00001
|
NM_015192.4(PLCB1):c.3336G>A (p.Arg1112=)
|
rs771734537
|
0.00001
|
NM_015192.4(PLCB1):c.807G>C (p.Glu269Asp)
|
rs1222914240
|
0.00001
|
NM_015346.4(ZFYVE26):c.5003G>A (p.Arg1668Gln)
|
rs1239889656
|
0.00001
|
NM_015559.3(SETBP1):c.493A>G (p.Thr165Ala)
|
rs770804298
|
0.00001
|
NM_015713.5(RRM2B):c.470A>G (p.Asn157Ser)
|
rs751231428
|
0.00001
|
NM_016156.6(MTMR2):c.1386+8A>C
|
rs371105248
|
0.00001
|
NM_016239.4(MYO15A):c.1277C>T (p.Ala426Val)
|
rs765664013
|
0.00001
|
NM_016341.4(PLCE1):c.2995T>C (p.Phe999Leu)
|
rs751871890
|
0.00001
|
NM_017433.5(MYO3A):c.3232A>T (p.Ile1078Leu)
|
rs199834305
|
0.00001
|
NM_017534.6(MYH2):c.2045A>G (p.Asn682Ser)
|
rs761148856
|
0.00001
|
NM_017534.6(MYH2):c.3541C>T (p.Arg1181Cys)
|
rs201768483
|
0.00001
|
NM_017739.4(POMGNT1):c.358C>G (p.Leu120Val)
|
rs373016708
|
0.00001
|
NM_017780.4(CHD7):c.5816G>A (p.Arg1939Gln)
|
rs1024797402
|
0.00001
|
NM_018075.5(ANO10):c.305A>G (p.Tyr102Cys)
|
rs754580837
|
0.00001
|
NM_018075.5(ANO10):c.416A>T (p.Asp139Val)
|
rs1341078381
|
0.00001
|
NM_018100.4(EFHC1):c.140T>A (p.Ile47Lys)
|
rs368839861
|
0.00001
|
NM_018136.5(ASPM):c.1802G>T (p.Arg601Ile)
|
rs766146033
|
0.00001
|
NM_018136.5(ASPM):c.2792G>A (p.Arg931Gln)
|
rs764854489
|
0.00001
|
NM_018136.5(ASPM):c.4048G>A (p.Ala1350Thr)
|
rs758550029
|
0.00001
|
NM_018136.5(ASPM):c.4520A>G (p.Tyr1507Cys)
|
rs751358312
|
0.00001
|
NM_018319.4(TDP1):c.1434-9T>C
|
rs768026182
|
0.00001
|
NM_018319.4(TDP1):c.148G>A (p.Glu50Lys)
|
rs781564388
|
0.00001
|
NM_018319.4(TDP1):c.346A>G (p.Ile116Val)
|
rs370785146
|
0.00001
|
NM_018319.4(TDP1):c.802C>G (p.Leu268Val)
|
rs764936943
|
0.00001
|
NM_018319.4(TDP1):c.914T>C (p.Ile305Thr)
|
rs367992333
|
0.00001
|
NM_018723.4(RBFOX1):c.733A>T (p.Ser245Cys)
|
rs1568184362
|
0.00001
|
NM_020247.5(COQ8A):c.1706C>A (p.Ala569Asp)
|
rs765235707
|
0.00001
|
NM_020247.5(COQ8A):c.314C>A (p.Pro105Gln)
|
rs751042244
|
0.00001
|
NM_020247.5(COQ8A):c.335G>A (p.Ser112Asn)
|
rs147889685
|
0.00001
|
NM_020247.5(COQ8A):c.344C>G (p.Pro115Arg)
|
rs746577141
|
0.00001
|
NM_020247.5(COQ8A):c.358G>A (p.Val120Met)
|
rs376347405
|
0.00001
|
NM_020361.5(CPA6):c.173A>G (p.Lys58Arg)
|
rs1400065970
|
0.00001
|
NM_020822.3(KCNT1):c.1150G>A (p.Asp384Asn)
|
rs762752381
|
0.00001
|
NM_020822.3(KCNT1):c.2244-10C>T
|
rs758069398
|
0.00001
|
NM_020822.3(KCNT1):c.274G>A (p.Val92Ile)
|
rs776233220
|
0.00001
|
NM_020822.3(KCNT1):c.3660C>G (p.His1220Gln)
|
rs868847760
|
0.00001
|
NM_020919.4(ALS2):c.1178A>G (p.Asn393Ser)
|
rs1693481434
|
0.00001
|
NM_020919.4(ALS2):c.146G>T (p.Gly49Val)
|
rs1461116724
|
0.00001
|
NM_020975.6(RET):c.2137-13A>G
|
rs1314541806
|
0.00001
|
NM_021008.4(DEAF1):c.1621G>A (p.Gly541Ser)
|
rs771661969
|
0.00001
|
NM_021098.3(CACNA1H):c.1624G>A (p.Glu542Lys)
|
rs761025927
|
0.00001
|
NM_021098.3(CACNA1H):c.1663G>A (p.Ala555Thr)
|
rs1056058034
|
0.00001
|
NM_021098.3(CACNA1H):c.1996G>A (p.Glu666Lys)
|
rs772141645
|
0.00001
|
NM_021098.3(CACNA1H):c.2192C>T (p.Thr731Met)
|
rs779476529
|
0.00001
|
NM_021098.3(CACNA1H):c.2395A>G (p.Ile799Val)
|
rs1216897674
|
0.00001
|
NM_021098.3(CACNA1H):c.4156G>A (p.Ala1386Thr)
|
rs766694151
|
0.00001
|
NM_021098.3(CACNA1H):c.86C>T (p.Ser29Phe)
|
rs1443348691
|
0.00001
|
NM_021098.3(CACNA1H):c.992G>A (p.Gly331Asp)
|
rs747326278
|
0.00001
|
NM_021625.5(TRPV4):c.1064G>A (p.Arg355His)
|
rs764715510
|
0.00001
|
NM_021625.5(TRPV4):c.1390C>T (p.Arg464Cys)
|
rs373049874
|
0.00001
|
NM_021625.5(TRPV4):c.1478C>T (p.Pro493Leu)
|
rs757284253
|
0.00001
|
NM_021625.5(TRPV4):c.1658+5G>A
|
rs756714651
|
0.00001
|
NM_021625.5(TRPV4):c.2452C>T (p.Arg818Cys)
|
rs776544875
|
0.00001
|
NM_021625.5(TRPV4):c.2458G>T (p.Asp820Tyr)
|
rs768849310
|
0.00001
|
NM_021625.5(TRPV4):c.345C>G (p.His115Gln)
|
rs1420465373
|
0.00001
|
NM_021830.5(TWNK):c.1510G>A (p.Ala504Thr)
|
rs863223923
|
0.00001
|
NM_021830.5(TWNK):c.908G>A (p.Arg303Gln)
|
rs137852956
|
0.00001
|
NM_021942.6(TRAPPC11):c.1349G>A (p.Arg450Gln)
|
rs201387237
|
0.00001
|
NM_021942.6(TRAPPC11):c.2093G>A (p.Cys698Tyr)
|
rs773726834
|
0.00001
|
NM_021942.6(TRAPPC11):c.3236A>G (p.Asn1079Ser)
|
rs898762603
|
0.00001
|
NM_022124.6(CDH23):c.6707A>G (p.Asn2236Ser)
|
rs545514111
|
0.00001
|
NM_022464.5(SIL1):c.272T>C (p.Val91Ala)
|
rs1461916800
|
0.00001
|
NM_024301.5(FKRP):c.517G>A (p.Val173Ile)
|
rs1322879846
|
0.00001
|
NM_024334.3(TMEM43):c.700C>T (p.Pro234Ser)
|
rs374202326
|
0.00001
|
NM_024411.5(PDYN):c.321G>T (p.Glu107Asp)
|
rs761883755
|
0.00001
|
NM_024411.5(PDYN):c.571G>T (p.Gly191Trp)
|
rs767807436
|
0.00001
|
NM_024411.5(PDYN):c.592A>T (p.Met198Leu)
|
rs745446529
|
0.00001
|
NM_024411.5(PDYN):c.632T>C (p.Leu211Ser)
|
rs267606940
|
0.00001
|
NM_024577.4(SH3TC2):c.1002-5T>A
|
rs769711653
|
0.00001
|
NM_024577.4(SH3TC2):c.1325C>T (p.Pro442Leu)
|
rs370613184
|
0.00001
|
NM_024577.4(SH3TC2):c.1431G>A (p.Glu477=)
|
rs887057321
|
0.00001
|
NM_024577.4(SH3TC2):c.2083C>G (p.Gln695Glu)
|
rs770170997
|
0.00001
|
NM_024577.4(SH3TC2):c.2581C>T (p.Arg861Trp)
|
rs147490172
|
0.00001
|
NM_024577.4(SH3TC2):c.3143T>C (p.Leu1048Pro)
|
rs537759361
|
0.00001
|
NM_024577.4(SH3TC2):c.82G>C (p.Val28Leu)
|
rs1399431033
|
0.00001
|
NM_025137.4(SPG11):c.3884A>G (p.Glu1295Gly)
|
rs747199399
|
0.00001
|
NM_025137.4(SPG11):c.4107T>A (p.Asn1369Lys)
|
rs200700774
|
0.00001
|
NM_025137.4(SPG11):c.4757C>G (p.Ala1586Gly)
|
rs1332100392
|
0.00001
|
NM_030962.4(SBF2):c.3097A>G (p.Asn1033Asp)
|
rs1258242566
|
0.00001
|
NM_030962.4(SBF2):c.3278C>T (p.Pro1093Leu)
|
rs762973514
|
0.00001
|
NM_030962.4(SBF2):c.4247T>C (p.Ile1416Thr)
|
rs370601742
|
0.00001
|
NM_030962.4(SBF2):c.5323C>T (p.Arg1775Cys)
|
rs938347502
|
0.00001
|
NM_030962.4(SBF2):c.5365A>G (p.Ile1789Val)
|
rs746542104
|
0.00001
|
NM_032119.4(ADGRV1):c.10801A>G (p.Arg3601Gly)
|
rs771934458
|
0.00001
|
NM_032119.4(ADGRV1):c.10882C>T (p.Pro3628Ser)
|
rs564470089
|
0.00001
|
NM_032119.4(ADGRV1):c.12979G>A (p.Gly4327Arg)
|
rs1251839466
|
0.00001
|
NM_032119.4(ADGRV1):c.2307T>A (p.Asn769Lys)
|
rs775205741
|
0.00001
|
NM_032119.4(ADGRV1):c.2800C>G (p.Pro934Ala)
|
rs149600158
|
0.00001
|
NM_032119.4(ADGRV1):c.323C>G (p.Pro108Arg)
|
rs1158908533
|
0.00001
|
NM_032119.4(ADGRV1):c.3346G>T (p.Asp1116Tyr)
|
rs761253411
|
0.00001
|
NM_032119.4(ADGRV1):c.6728T>C (p.Ile2243Thr)
|
rs1050561499
|
0.00001
|
NM_032119.4(ADGRV1):c.7007G>A (p.Arg2336Gln)
|
rs755180090
|
0.00001
|
NM_032551.5(KISS1R):c.369+5G>A
|
rs1002693684
|
0.00001
|
NM_033109.5(PNPT1):c.337C>T (p.Pro113Ser)
|
rs930190521
|
0.00001
|
NM_033305.3(VPS13A):c.610C>T (p.Arg204Cys)
|
rs752509925
|
0.00001
|
NM_033305.3(VPS13A):c.6785T>C (p.Met2262Thr)
|
rs763311249
|
0.00001
|
NM_033305.3(VPS13A):c.8233A>G (p.Ile2745Val)
|
rs780530847
|
0.00001
|
NM_033380.3(COL4A5):c.4693C>G (p.Pro1565Ala)
|
rs104886295
|
0.00001
|
NM_033380.3(COL4A5):c.4726C>G (p.Pro1576Ala)
|
rs747041833
|
0.00001
|
NM_033380.3(COL4A5):c.4891C>T (p.Arg1631Cys)
|
rs865842167
|
0.00001
|
NM_033629.6(TREX1):c.226G>T (p.Ala76Ser)
|
rs986003279
|
0.00001
|
NM_058246.4(DNAJB6):c.203A>G (p.Tyr68Cys)
|
rs531186856
|
0.00001
|
NM_130837.3(OPA1):c.326T>C (p.Val109Ala)
|
rs77173739
|
0.00001
|
NM_130839.5(UBE3A):c.1754-4A>G
|
rs780429591
|
0.00001
|
NM_133433.4(NIPBL):c.2261G>T (p.Arg754Leu)
|
rs748268539
|
0.00001
|
NM_133433.4(NIPBL):c.2423G>A (p.Arg808Gln)
|
rs142574933
|
0.00001
|
NM_138477.4(CDAN1):c.1867C>T (p.Arg623Trp)
|
rs141007889
|
0.00001
|
NM_138691.3(TMC1):c.1029+3A>G
|
rs1588083737
|
0.00001
|
NM_144498.4(OSBPL2):c.366C>G (p.Cys122Trp)
|
rs770358849
|
0.00001
|
NM_144991.3(TSPEAR):c.1330C>T (p.Arg444Trp)
|
rs782352724
|
0.00001
|
NM_145309.6(LRTOMT):c.315T>C (p.Ser105=)
|
rs535642551
|
0.00001
|
NM_152393.4(KLHL40):c.1381A>G (p.Met461Val)
|
rs776547008
|
0.00001
|
NM_152393.4(KLHL40):c.395A>G (p.Asn132Ser)
|
rs767039942
|
0.00001
|
NM_152564.5(VPS13B):c.11087G>A (p.Arg3696Gln)
|
rs757726642
|
0.00001
|
NM_152564.5(VPS13B):c.8041G>A (p.Gly2681Ser)
|
rs762186948
|
0.00001
|
NM_152564.5(VPS13B):c.8680A>G (p.Ile2894Val)
|
rs1272294316
|
0.00001
|
NM_153026.3(PRICKLE1):c.1324C>T (p.His442Tyr)
|
rs1420840004
|
0.00001
|
NM_153026.3(PRICKLE1):c.668C>T (p.Thr223Met)
|
rs754218148
|
0.00001
|
NM_153033.5(KCTD7):c.61T>G (p.Ser21Ala)
|
rs753471689
|
0.00001
|
NM_153033.5(KCTD7):c.68C>T (p.Ala23Val)
|
rs745360140
|
0.00001
|
NM_170707.4(LMNA):c.1280G>A (p.Arg427His)
|
rs747139279
|
0.00001
|
NM_170707.4(LMNA):c.1786G>A (p.Asp596Asn)
|
rs769561386
|
0.00001
|
NM_170707.4(LMNA):c.65C>T (p.Ser22Leu)
|
rs1016767319
|
0.00001
|
NM_170707.4(LMNA):c.662G>A (p.Arg221His)
|
rs372567202
|
0.00001
|
NM_170707.4(LMNA):c.7A>G (p.Thr3Ala)
|
rs1183004393
|
0.00001
|
NM_170707.4(LMNA):c.953C>T (p.Ala318Val)
|
rs1212920276
|
0.00001
|
NM_171998.4(RAB39B):c.386C>T (p.Thr129Ile)
|
rs1557314226
|
0.00001
|
NM_173500.4(TTBK2):c.1126C>T (p.Arg376Cys)
|
rs759216076
|
0.00001
|
NM_173500.4(TTBK2):c.1261G>A (p.Gly421Arg)
|
rs1889964761
|
0.00001
|
NM_173500.4(TTBK2):c.1360C>T (p.Arg454Cys)
|
rs758352842
|
0.00001
|
NM_173500.4(TTBK2):c.1399C>T (p.Leu467Phe)
|
rs377471302
|
0.00001
|
NM_173500.4(TTBK2):c.1895A>T (p.Gln632Leu)
|
rs779249410
|
0.00001
|
NM_173500.4(TTBK2):c.3035C>T (p.Ala1012Val)
|
rs752316838
|
0.00001
|
NM_173500.4(TTBK2):c.3130A>G (p.Ile1044Val)
|
rs1439802446
|
0.00001
|
NM_173500.4(TTBK2):c.3427A>G (p.Ser1143Gly)
|
rs777159553
|
0.00001
|
NM_173500.4(TTBK2):c.3431C>T (p.Pro1144Leu)
|
rs2061791659
|
0.00001
|
NM_173660.5(DOK7):c.1446G>A (p.Ala482=)
|
rs773592493
|
0.00001
|
NM_175914.5(HNF4A):c.196G>A (p.Val66Met)
|
rs369182343
|
0.00001
|
NM_175914.5(HNF4A):c.457G>A (p.Asp153Asn)
|
rs1427687409
|
0.00001
|
NM_175914.5(HNF4A):c.733C>T (p.Arg245Cys)
|
rs1290868034
|
0.00001
|
NM_175914.5(HNF4A):c.76C>A (p.Leu26Ile)
|
rs753285226
|
0.00001
|
NM_175914.5(HNF4A):c.925C>T (p.Arg309Cys)
|
rs193922479
|
0.00001
|
NM_175929.3(FGF14):c.142A>T (p.Ser48Cys)
|
rs756852215
|
0.00001
|
NM_177550.5(SLC13A5):c.402C>T (p.Leu134=)
|
rs1336828226
|
0.00001
|
NM_178013.4(PRIMA1):c.87C>G (p.Phe29Leu)
|
rs1474313538
|
0.00001
|
NM_181882.3(PRX):c.1925C>T (p.Pro642Leu)
|
rs751935470
|
0.00001
|
NM_181882.3(PRX):c.2252C>T (p.Ser751Leu)
|
rs570569581
|
0.00001
|
NM_181882.3(PRX):c.3640C>T (p.Pro1214Ser)
|
rs1303392170
|
0.00001
|
NM_181882.3(PRX):c.4232G>T (p.Arg1411Leu)
|
rs1005254872
|
0.00001
|
NM_181882.3(PRX):c.707T>C (p.Leu236Pro)
|
rs876661240
|
0.00001
|
NM_182914.3(SYNE2):c.10536C>A (p.Asp3512Glu)
|
rs557133901
|
0.00001
|
NM_182914.3(SYNE2):c.11539G>A (p.Asp3847Asn)
|
rs376684112
|
0.00001
|
NM_182914.3(SYNE2):c.14801A>G (p.His4934Arg)
|
rs758936935
|
0.00001
|
NM_182914.3(SYNE2):c.18862G>A (p.Gly6288Ser)
|
rs2098648256
|
0.00001
|
NM_182914.3(SYNE2):c.19559C>T (p.Pro6520Leu)
|
rs1372094522
|
0.00001
|
NM_182914.3(SYNE2):c.20115C>G (p.Asn6705Lys)
|
rs199800249
|
0.00001
|
NM_182914.3(SYNE2):c.7028A>G (p.Glu2343Gly)
|
rs770601583
|
0.00001
|
NM_182961.4(SYNE1):c.10639G>A (p.Ala3547Thr)
|
rs1395813698
|
0.00001
|
NM_182961.4(SYNE1):c.10709G>C (p.Arg3570Pro)
|
rs751191478
|
0.00001
|
NM_182961.4(SYNE1):c.10730A>C (p.Gln3577Pro)
|
rs757925072
|
0.00001
|
NM_182961.4(SYNE1):c.10750C>T (p.His3584Tyr)
|
rs752209637
|
0.00001
|
NM_182961.4(SYNE1):c.11031C>T (p.Cys3677=)
|
rs2096781049
|
0.00001
|
NM_182961.4(SYNE1):c.11521G>A (p.Val3841Ile)
|
rs1323758453
|
0.00001
|
NM_182961.4(SYNE1):c.11726T>C (p.Ile3909Thr)
|
rs772794050
|
0.00001
|
NM_182961.4(SYNE1):c.12217A>G (p.Ile4073Val)
|
rs886044158
|
0.00001
|
NM_182961.4(SYNE1):c.13310T>C (p.Leu4437Pro)
|
rs745789075
|
0.00001
|
NM_182961.4(SYNE1):c.13373T>G (p.Phe4458Cys)
|
rs764410604
|
0.00001
|
NM_182961.4(SYNE1):c.13375C>T (p.Leu4459Phe)
|
rs1180692276
|
0.00001
|
NM_182961.4(SYNE1):c.13433T>C (p.Phe4478Ser)
|
rs886042314
|
0.00001
|
NM_182961.4(SYNE1):c.13555G>A (p.Glu4519Lys)
|
rs571224180
|
0.00001
|
NM_182961.4(SYNE1):c.13580A>G (p.Gln4527Arg)
|
rs747550581
|
0.00001
|
NM_182961.4(SYNE1):c.13832A>C (p.Gln4611Pro)
|
rs762392590
|
0.00001
|
NM_182961.4(SYNE1):c.13901A>G (p.Asn4634Ser)
|
rs1362233016
|
0.00001
|
NM_182961.4(SYNE1):c.13989C>A (p.Phe4663Leu)
|
rs1166869172
|
0.00001
|
NM_182961.4(SYNE1):c.13991A>G (p.Tyr4664Cys)
|
rs367979558
|
0.00001
|
NM_182961.4(SYNE1):c.14530C>A (p.Pro4844Thr)
|
rs747838657
|
0.00001
|
NM_182961.4(SYNE1):c.14590G>A (p.Glu4864Lys)
|
rs752922869
|
0.00001
|
NM_182961.4(SYNE1):c.14683C>T (p.Arg4895Cys)
|
rs776494157
|
0.00001
|
NM_182961.4(SYNE1):c.14955G>C (p.Gln4985His)
|
rs890021376
|
0.00001
|
NM_182961.4(SYNE1):c.15116T>C (p.Phe5039Ser)
|
rs780617133
|
0.00001
|
NM_182961.4(SYNE1):c.1544T>A (p.Leu515Gln)
|
rs544309811
|
0.00001
|
NM_182961.4(SYNE1):c.15494A>T (p.Lys5165Ile)
|
rs199760899
|
0.00001
|
NM_182961.4(SYNE1):c.15908G>C (p.Arg5303Pro)
|
rs537825329
|
0.00001
|
NM_182961.4(SYNE1):c.16237-10A>T
|
rs201078255
|
0.00001
|
NM_182961.4(SYNE1):c.16409A>G (p.Asp5470Gly)
|
rs747824937
|
0.00001
|
NM_182961.4(SYNE1):c.1723G>T (p.Gly575Cys)
|
rs143408582
|
0.00001
|
NM_182961.4(SYNE1):c.17443C>G (p.Leu5815Val)
|
rs987594036
|
0.00001
|
NM_182961.4(SYNE1):c.17533G>A (p.Val5845Met)
|
rs535699185
|
0.00001
|
NM_182961.4(SYNE1):c.17851-7G>T
|
rs776806501
|
0.00001
|
NM_182961.4(SYNE1):c.18053A>G (p.Asn6018Ser)
|
rs774683772
|
0.00001
|
NM_182961.4(SYNE1):c.18073G>A (p.Ala6025Thr)
|
rs886042460
|
0.00001
|
NM_182961.4(SYNE1):c.18513G>T (p.Arg6171Ser)
|
rs764725032
|
0.00001
|
NM_182961.4(SYNE1):c.18659G>A (p.Arg6220His)
|
rs377307244
|
0.00001
|
NM_182961.4(SYNE1):c.18761G>A (p.Arg6254His)
|
rs752272082
|
0.00001
|
NM_182961.4(SYNE1):c.18842A>C (p.Glu6281Ala)
|
rs965275563
|
0.00001
|
NM_182961.4(SYNE1):c.19243T>G (p.Cys6415Gly)
|
rs1398807335
|
0.00001
|
NM_182961.4(SYNE1):c.19303A>G (p.Lys6435Glu)
|
rs1433787324
|
0.00001
|
NM_182961.4(SYNE1):c.19470+5G>A
|
rs775233950
|
0.00001
|
NM_182961.4(SYNE1):c.19586C>T (p.Ala6529Val)
|
rs1413633616
|
0.00001
|
NM_182961.4(SYNE1):c.19888C>T (p.His6630Tyr)
|
rs1172865347
|
0.00001
|
NM_182961.4(SYNE1):c.20549A>T (p.Asp6850Val)
|
rs773506774
|
0.00001
|
NM_182961.4(SYNE1):c.2168T>C (p.Phe723Ser)
|
rs1348902701
|
0.00001
|
NM_182961.4(SYNE1):c.21907C>T (p.Leu7303Phe)
|
rs753138419
|
0.00001
|
NM_182961.4(SYNE1):c.22492G>A (p.Glu7498Lys)
|
rs762050668
|
0.00001
|
NM_182961.4(SYNE1):c.22942G>A (p.Ala7648Thr)
|
rs778126141
|
0.00001
|
NM_182961.4(SYNE1):c.23006C>A (p.Ala7669Asp)
|
rs1452906754
|
0.00001
|
NM_182961.4(SYNE1):c.23145+6T>G
|
rs794727081
|
0.00001
|
NM_182961.4(SYNE1):c.23444T>C (p.Ile7815Thr)
|
rs1391158473
|
0.00001
|
NM_182961.4(SYNE1):c.23866G>A (p.Asp7956Asn)
|
rs774220095
|
0.00001
|
NM_182961.4(SYNE1):c.24283C>T (p.Arg8095Cys)
|
rs200118773
|
0.00001
|
NM_182961.4(SYNE1):c.25007G>A (p.Arg8336Gln)
|
rs200684943
|
0.00001
|
NM_182961.4(SYNE1):c.25489G>A (p.Ala8497Thr)
|
rs777390431
|
0.00001
|
NM_182961.4(SYNE1):c.25601T>C (p.Val8534Ala)
|
rs746452797
|
0.00001
|
NM_182961.4(SYNE1):c.25735A>G (p.Ile8579Val)
|
rs200178554
|
0.00001
|
NM_182961.4(SYNE1):c.26237G>A (p.Arg8746Gln)
|
rs757466963
|
0.00001
|
NM_182961.4(SYNE1):c.2693A>T (p.Gln898Leu)
|
rs898451919
|
0.00001
|
NM_182961.4(SYNE1):c.2809G>A (p.Ala937Thr)
|
rs570242828
|
0.00001
|
NM_182961.4(SYNE1):c.2959G>A (p.Asp987Asn)
|
rs1374710512
|
0.00001
|
NM_182961.4(SYNE1):c.3061C>T (p.His1021Tyr)
|
rs373161596
|
0.00001
|
NM_182961.4(SYNE1):c.310-469C>T
|
rs762351812
|
0.00001
|
NM_182961.4(SYNE1):c.3925C>G (p.Arg1309Gly)
|
rs1412425061
|
0.00001
|
NM_182961.4(SYNE1):c.3943C>T (p.Arg1315Trp)
|
rs747574901
|
0.00001
|
NM_182961.4(SYNE1):c.4044C>T (p.Asn1348=)
|
rs765010255
|
0.00001
|
NM_182961.4(SYNE1):c.6154T>C (p.Phe2052Leu)
|
rs147511500
|
0.00001
|
NM_182961.4(SYNE1):c.6184C>T (p.Arg2062Cys)
|
rs746057788
|
0.00001
|
NM_182961.4(SYNE1):c.6565A>G (p.Met2189Val)
|
rs1220473900
|
0.00001
|
NM_182961.4(SYNE1):c.6974A>G (p.Glu2325Gly)
|
rs777595583
|
0.00001
|
NM_182961.4(SYNE1):c.7139G>A (p.Arg2380His)
|
rs554035671
|
0.00001
|
NM_182961.4(SYNE1):c.7587A>G (p.Leu2529=)
|
rs141499089
|
0.00001
|
NM_182961.4(SYNE1):c.7625A>G (p.Asn2542Ser)
|
rs1215589518
|
0.00001
|
NM_182961.4(SYNE1):c.7756G>A (p.Glu2586Lys)
|
rs776873775
|
0.00001
|
NM_182961.4(SYNE1):c.7786C>T (p.Arg2596Cys)
|
rs768574390
|
0.00001
|
NM_182961.4(SYNE1):c.8625C>T (p.Ala2875=)
|
rs759736838
|
0.00001
|
NM_182961.4(SYNE1):c.8918G>A (p.Ser2973Asn)
|
rs766072795
|
0.00001
|
NM_182961.4(SYNE1):c.9194T>C (p.Leu3065Ser)
|
rs2097283921
|
0.00001
|
NM_194248.3(OTOF):c.2246T>A (p.Ile749Asn)
|
rs372085440
|
0.00001
|
NM_194248.3(OTOF):c.2438G>A (p.Arg813Gln)
|
rs767282723
|
0.00001
|
NM_198586.3(NHLRC1):c.218G>A (p.Arg73Gln)
|
rs1280991443
|
0.00001
|
NM_198859.4(PRICKLE2):c.413A>G (p.Asn138Ser)
|
rs1247504361
|
0.00001
|
NM_198904.4(GABRG2):c.1172G>A (p.Arg391His)
|
rs528036202
|
0.00001
|
NM_198994.3(TGM6):c.1282G>T (p.Ala428Ser)
|
rs556958028
|
0.00001
|
NM_198994.3(TGM6):c.1304T>C (p.Val435Ala)
|
rs774694098
|
0.00001
|
NM_198994.3(TGM6):c.1384T>C (p.Phe462Leu)
|
rs199968743
|
0.00001
|
NM_198994.3(TGM6):c.1600G>A (p.Ala534Thr)
|
rs368369881
|
0.00001
|
NM_198994.3(TGM6):c.1967+1G>A
|
rs747702159
|
0.00001
|
NM_198994.3(TGM6):c.573C>G (p.Leu191=)
|
rs1347908694
|
0.00001
|
NM_198994.3(TGM6):c.644T>C (p.Ile215Thr)
|
rs376370167
|
0.00001
|
NM_198994.3(TGM6):c.728G>C (p.Gly243Ala)
|
rs751595281
|
0.00001
|
NM_198994.3(TGM6):c.733G>A (p.Gly245Ser)
|
rs1288465164
|
0.00001
|
NM_198994.3(TGM6):c.982A>G (p.Ser328Gly)
|
rs1271717343
|
0.00001
|
NM_198999.3(SLC26A5):c.28C>T (p.Leu10Phe)
|
rs1375742194
|
0.00001
|
NM_201384.3(PLEC):c.1086C>G (p.His362Gln)
|
rs1221901115
|
0.00001
|
NM_201384.3(PLEC):c.12026G>A (p.Arg4009His)
|
rs564907731
|
0.00001
|
NM_201384.3(PLEC):c.12747G>A (p.Ser4249=)
|
rs782377686
|
0.00001
|
NM_201384.3(PLEC):c.2035G>A (p.Gly679Arg)
|
rs1554716477
|
0.00001
|
NM_201384.3(PLEC):c.2127G>C (p.Gln709His)
|
rs1303759485
|
0.00001
|
NM_201384.3(PLEC):c.2843C>G (p.Pro948Arg)
|
rs537345370
|
0.00001
|
NM_201384.3(PLEC):c.3081+9C>T
|
rs371983298
|
0.00001
|
NM_201384.3(PLEC):c.3356C>T (p.Pro1119Leu)
|
rs782567448
|
0.00001
|
NM_201384.3(PLEC):c.4657C>T (p.Arg1553Trp)
|
rs781820448
|
0.00001
|
NM_201384.3(PLEC):c.4717A>G (p.Ser1573Gly)
|
rs1212000414
|
0.00001
|
NM_201384.3(PLEC):c.5020C>T (p.Arg1674Trp)
|
rs782306391
|
0.00001
|
NM_201384.3(PLEC):c.5131G>A (p.Ala1711Thr)
|
rs781937167
|
0.00001
|
NM_201384.3(PLEC):c.5410G>A (p.Ala1804Thr)
|
rs984387491
|
0.00001
|
NM_201384.3(PLEC):c.5741A>G (p.Glu1914Gly)
|
rs782280540
|
0.00001
|
NM_201384.3(PLEC):c.5938G>A (p.Glu1980Lys)
|
rs782334814
|
0.00001
|
NM_201384.3(PLEC):c.6415C>T (p.Arg2139Cys)
|
rs782717631
|
0.00001
|
NM_201384.3(PLEC):c.6530C>T (p.Thr2177Met)
|
rs1312954051
|
0.00001
|
NM_201384.3(PLEC):c.6754C>T (p.Arg2252Cys)
|
rs782530517
|
0.00001
|
NM_201384.3(PLEC):c.6845G>A (p.Arg2282Gln)
|
rs782316711
|
0.00001
|
NM_201384.3(PLEC):c.8626G>A (p.Glu2876Lys)
|
rs782517831
|
0.00001
|
NM_201384.3(PLEC):c.8639G>A (p.Cys2880Tyr)
|
rs782789906
|
0.00001
|
NM_201384.3(PLEC):c.9301G>A (p.Ala3101Thr)
|
rs1554682090
|
0.00001
|
NM_201384.3(PLEC):c.9919G>A (p.Gly3307Ser)
|
rs782021653
|
0.00001
|
NM_203446.3(SYNJ1):c.*232C>T
|
rs373563239
|
0.00001
|
NM_206933.4(USH2A):c.10182G>A (p.Lys3394=)
|
rs751903445
|
0.00001
|
NM_206933.4(USH2A):c.2761C>A (p.Leu921Met)
|
rs772211390
|
0.00001
|
NM_213599.3(ANO5):c.1031C>G (p.Pro344Arg)
|
rs541372136
|
0.00001
|
NM_213599.3(ANO5):c.265G>T (p.Asp89Tyr)
|
rs766228901
|
0.00001
|
NM_213599.3(ANO5):c.87G>A (p.Glu29=)
|
rs1554919178
|
0.00001
|
NC_000007.14:g.44153459_44153467del
|
|
|
NC_012920.1(MT-CO1):m.6899G>C
|
rs1556423194
|
|
NC_012920.1(MT-CO1):m.6951G>A
|
rs1603220711
|
|
NC_012920.1(MT-CO2):m.7724A>T
|
rs1553139599
|
|
NC_012920.1(MT-CO2):m.7746A>G
|
rs1603221113
|
|
NC_012920.1(MT-CYB):m.12217A>G
|
rs1556424082
|
|
NC_012920.1(MT-CYB):m.1257T>C
|
rs1603218535
|
|
NC_012920.1(MT-CYB):m.1282G>A
|
rs1569483805
|
|
NC_012920.1(MT-RNR1):m.1118A>G
|
|
|
NC_012920.1(MT-TK):m.8302A>G
|
|
|
NM_000021.4(PSEN1):c.1141C>A (p.Leu381Ile)
|
rs63750687
|
|
NM_000021.4(PSEN1):c.1158C>A (p.Phe386Leu)
|
rs1555358095
|
|
NM_000021.4(PSEN1):c.1184A>T (p.Lys395Ile)
|
|
|
NM_000021.4(PSEN1):c.1292C>T (p.Ala431Val)
|
rs63750083
|
|
NM_000021.4(PSEN1):c.389T>C (p.Leu130Pro)
|
rs1566630838
|
|
NM_000021.4(PSEN1):c.525C>G (p.Phe175Leu)
|
rs1566638724
|
|
NM_000021.4(PSEN1):c.703C>G (p.Leu235Val)
|
rs63751130
|
|
NM_000021.4(PSEN1):c.715A>G (p.Lys239Glu)
|
rs1595035012
|
|
NM_000021.4(PSEN1):c.779C>G (p.Ala260Gly)
|
|
|
NM_000021.4(PSEN1):c.782T>C (p.Val261Ala)
|
rs199723282
|
|
NM_000023.4(SGCA):c.49G>A (p.Gly17Arg)
|
rs573792379
|
|
NM_000033.4(ABCD1):c.1072T>C (p.Ser358Pro)
|
|
|
NM_000033.4(ABCD1):c.1082-23C>G
|
rs2148395325
|
|
NM_000033.4(ABCD1):c.1224G>C (p.Glu408Asp)
|
rs2148395507
|
|
NM_000033.4(ABCD1):c.1237G>C (p.Ala413Pro)
|
rs1569541011
|
|
NM_000033.4(ABCD1):c.1448C>T (p.Thr483Met)
|
rs1569541035
|
|
NM_000033.4(ABCD1):c.1763T>A (p.Ile588Asn)
|
rs1569541122
|
|
NM_000033.4(ABCD1):c.1832A>G (p.Gln611Arg)
|
rs1569541194
|
|
NM_000033.4(ABCD1):c.355G>C (p.Ala119Pro)
|
rs781846746
|
|
NM_000033.4(ABCD1):c.653C>T (p.Pro218Leu)
|
rs1569540710
|
|
NM_000051.4(ATM):c.*5del
|
|
|
NM_000051.4(ATM):c.1025A>G (p.Lys342Arg)
|
rs1064794119
|
|
NM_000051.4(ATM):c.1075G>A (p.Glu359Lys)
|
rs2079988487
|
|
NM_000051.4(ATM):c.1219_1221dup (p.Phe407dup)
|
rs1064792998
|
|
NM_000051.4(ATM):c.1235+4_1235+5del
|
rs770033355
|
|
NM_000051.4(ATM):c.1295T>A (p.Leu432Gln)
|
rs546621356
|
|
NM_000051.4(ATM):c.2250+7G>A
|
rs752009031
|
|
NM_000051.4(ATM):c.2386A>T (p.Asn796Tyr)
|
rs201793499
|
|
NM_000051.4(ATM):c.2987A>G (p.His996Arg)
|
rs876660034
|
|
NM_000051.4(ATM):c.3063A>G (p.Val1021=)
|
rs1591604752
|
|
NM_000051.4(ATM):c.3394A>G (p.Arg1132Gly)
|
rs1591632541
|
|
NM_000051.4(ATM):c.354A>G (p.Gln118=)
|
rs1188306380
|
|
NM_000051.4(ATM):c.3834C>A (p.Asp1278Glu)
|
rs534864280
|
|
NM_000051.4(ATM):c.4070C>A (p.Ser1357Tyr)
|
rs730881390
|
|
NM_000051.4(ATM):c.421T>G (p.Cys141Gly)
|
rs1565357020
|
|
NM_000051.4(ATM):c.4534G>A (p.Ala1512Thr)
|
rs1060501653
|
|
NM_000051.4(ATM):c.4910A>G (p.Asp1637Gly)
|
rs763457172
|
|
NM_000051.4(ATM):c.5062A>G (p.Ile1688Val)
|
rs766053182
|
|
NM_000051.4(ATM):c.5392C>G (p.Leu1798Val)
|
rs879254274
|
|
NM_000051.4(ATM):c.5675-7_5675-4del
|
rs1189695629
|
|
NM_000051.4(ATM):c.5822T>G (p.Val1941Gly)
|
rs876660334
|
|
NM_000051.4(ATM):c.5887G>A (p.Asp1963Asn)
|
rs864622148
|
|
NM_000051.4(ATM):c.61A>G (p.Thr21Ala)
|
rs1565344141
|
|
NM_000051.4(ATM):c.6248G>C (p.Gly2083Ala)
|
rs1060501559
|
|
NM_000051.4(ATM):c.643A>G (p.Lys215Glu)
|
rs2079708238
|
|
NM_000051.4(ATM):c.6583C>T (p.His2195Tyr)
|
rs780946471
|
|
NM_000051.4(ATM):c.6859G>A (p.Gly2287Arg)
|
rs1181779478
|
|
NM_000051.4(ATM):c.6878T>C (p.Leu2293Pro)
|
rs1450429233
|
|
NM_000051.4(ATM):c.6975+4T>G
|
rs876660240
|
|
NM_000051.4(ATM):c.6975G>A (p.Ala2325=)
|
rs556778314
|
|
NM_000051.4(ATM):c.6975G>C (p.Ala2325=)
|
rs556778314
|
|
NM_000051.4(ATM):c.7235A>G (p.Asn2412Ser)
|
rs786203311
|
|
NM_000051.4(ATM):c.7339T>G (p.Leu2447Val)
|
rs1591159997
|
|
NM_000051.4(ATM):c.7375C>G (p.Arg2459Gly)
|
rs730881383
|
|
NM_000051.4(ATM):c.743G>A (p.Arg248Gln)
|
rs769166447
|
|
NM_000051.4(ATM):c.75A>G (p.Lys25=)
|
rs1591446716
|
|
NM_000051.4(ATM):c.8187A>T (p.Gln2729His)
|
rs587781946
|
|
NM_000051.4(ATM):c.8311A>G (p.Thr2771Ala)
|
rs876660587
|
|
NM_000051.4(ATM):c.8486C>A (p.Pro2829Gln)
|
rs938431501
|
|
NM_000051.4(ATM):c.8495G>T (p.Arg2832Leu)
|
rs529296539
|
|
NM_000051.4(ATM):c.8536T>C (p.Phe2846Leu)
|
rs1591265229
|
|
NM_000051.4(ATM):c.8917A>G (p.Arg2973Gly)
|
rs1555151352
|
|
NM_000052.7(ATP7A):c.1814A>G (p.His605Arg)
|
rs1020034878
|
|
NM_000052.7(ATP7A):c.4489G>A (p.Asp1497Asn)
|
|
|
NM_000054.7(AVPR2):c.503T>G (p.Leu168Arg)
|
rs1557100711
|
|
NM_000068.4(CACNA1A):c.4970_4987del
|
|
|
NM_000070.3(CAPN3):c.1516A>C (p.Ile506Leu)
|
rs140828326
|
|
NM_000070.3(CAPN3):c.1664T>A (p.Val555Asp)
|
rs2141203159
|
|
NM_000070.3(CAPN3):c.309+4A>C
|
rs1566966120
|
|
NM_000070.3(CAPN3):c.600C>G (p.Phe200Leu)
|
|
|
NM_000079.4(CHRNA1):c.-6T>C
|
|
|
NM_000079.4(CHRNA1):c.1312T>C (p.Cys438Arg)
|
|
|
NM_000080.4(CHRNE):c.384_389del (p.Leu129_Val130del)
|
rs1555546980
|
|
NM_000080.4(CHRNE):c.421C>A (p.Pro141Thr)
|
rs483353045
|
|
NM_000083.3(CLCN1):c.1003A>G (p.Thr335Ala)
|
rs2116852900
|
|
NM_000083.3(CLCN1):c.1090G>A (p.Val364Ile)
|
|
|
NM_000083.3(CLCN1):c.1129C>G (p.Arg377Gly)
|
|
|
NM_000083.3(CLCN1):c.1166+5G>A
|
rs1586497958
|
|
NM_000083.3(CLCN1):c.1262G>T (p.Arg421Leu)
|
rs780834658
|
|
NM_000083.3(CLCN1):c.1295C>G (p.Thr432Arg)
|
rs1563080014
|
|
NM_000083.3(CLCN1):c.1416C>A (p.Ile472=)
|
rs372034290
|
|
NM_000083.3(CLCN1):c.1445G>A (p.Gly482Glu)
|
rs1380726444
|
|
NM_000083.3(CLCN1):c.1454T>G (p.Met485Arg)
|
rs1586507590
|
|
NM_000083.3(CLCN1):c.1568G>T (p.Gly523Val)
|
rs1460714146
|
|
NM_000083.3(CLCN1):c.1571A>G (p.Tyr524Cys)
|
rs1563083476
|
|
NM_000083.3(CLCN1):c.1630G>A (p.Val544Met)
|
rs1554438433
|
|
NM_000083.3(CLCN1):c.1652G>A (p.Gly551Asp)
|
rs1563084603
|
|
NM_000083.3(CLCN1):c.1697C>T (p.Ala566Val)
|
rs2116373070
|
|
NM_000083.3(CLCN1):c.1873_1882delinsG (p.Leu625_Leu628delinsVal)
|
|
|
NM_000083.3(CLCN1):c.1948G>A (p.Gly650Ser)
|
rs1181586555
|
|
NM_000083.3(CLCN1):c.2099C>A (p.Ala700Glu)
|
|
|
NM_000083.3(CLCN1):c.2404-9G>A
|
|
|
NM_000083.3(CLCN1):c.2461_2464delinsCTCC (p.Ile821_Asp822delinsLeuHis)
|
rs2116396889
|
|
NM_000083.3(CLCN1):c.2471C>A (p.Ser824Tyr)
|
rs1803362038
|
|
NM_000083.3(CLCN1):c.2530_2532del (p.Leu844del)
|
rs1563090152
|
|
NM_000083.3(CLCN1):c.2694G>T (p.Gly898=)
|
rs1803411706
|
|
NM_000083.3(CLCN1):c.2782G>A (p.Glu928Lys)
|
rs1803416147
|
|
NM_000083.3(CLCN1):c.281A>T (p.Asp94Val)
|
rs1586483178
|
|
NM_000083.3(CLCN1):c.2872G>T (p.Glu958Ter)
|
|
|
NM_000083.3(CLCN1):c.2959A>C (p.Ile987Leu)
|
|
|
NM_000083.3(CLCN1):c.392T>A (p.Val131Asp)
|
rs769391461
|
|
NM_000083.3(CLCN1):c.514A>T (p.Ile172Phe)
|
rs992335710
|
|
NM_000083.3(CLCN1):c.586A>T (p.Thr196Ser)
|
rs1802442547
|
|
NM_000083.3(CLCN1):c.661G>A (p.Ala221Thr)
|
|
|
NM_000083.3(CLCN1):c.680T>A (p.Ile227Asn)
|
rs1802446540
|
|
NM_000083.3(CLCN1):c.779C>T (p.Pro260Leu)
|
rs1554435319
|
|
NM_000083.3(CLCN1):c.799C>T (p.Leu267=)
|
rs1563075864
|
|
NM_000083.3(CLCN1):c.809G>A (p.Gly270Asp)
|
rs1490537212
|
|
NM_000083.3(CLCN1):c.811T>C (p.Cys271Arg)
|
rs1554435334
|
|
NM_000083.3(CLCN1):c.818T>C (p.Val273Ala)
|
rs1586489367
|
|
NM_000083.3(CLCN1):c.824T>C (p.Val275Ala)
|
|
|
NM_000083.3(CLCN1):c.825C>T (p.Val275=)
|
|
|
NM_000083.3(CLCN1):c.905A>G (p.Tyr302Cys)
|
rs1563078716
|
|
NM_000083.3(CLCN1):c.987C>G (p.Ile329Met)
|
rs140664749
|
|
NM_000085.5(CLCNKB):c.656-9C>T
|
|
|
NM_000085.5(CLCNKB):c.891C>A (p.Ser297Arg)
|
rs565165729
|
|
NM_000088.4(COL1A1):c.1433C>G (p.Thr478Ser)
|
|
|
NM_000088.4(COL1A1):c.1515+19C>T
|
|
|
NM_000088.4(COL1A1):c.2838T>G (p.Pro946=)
|
rs1555572418
|
|
NM_000088.4(COL1A1):c.3208-19C>T
|
|
|
NM_000088.4(COL1A1):c.3585T>C (p.Gly1195=)
|
rs1906585690
|
|
NM_000089.4(COL1A2):c.2428C>T (p.Pro810Ser)
|
rs779393490
|
|
NM_000089.4(COL1A2):c.3772C>T (p.Arg1258Cys)
|
rs766273613
|
|
NM_000089.4(COL1A2):c.975A>C (p.Gly325=)
|
rs148063325
|
|
NM_000091.5(COL4A3):c.2223G>A (p.Lys741=)
|
rs1574774667
|
|
NM_000091.5(COL4A3):c.2381C>T (p.Pro794Leu)
|
rs1559895213
|
|
NM_000091.5(COL4A3):c.5010_*14del (p.His1670_Ter1671delinsXaa)
|
rs765655100
|
|
NM_000091.5(COL4A3):c.87+8G>C
|
|
|
NM_000092.5(COL4A4):c.1871C>T (p.Ala624Val)
|
rs2150476651
|
|
NM_000092.5(COL4A4):c.1987+4A>G
|
rs1559562567
|
|
NM_000092.5(COL4A4):c.4550T>C (p.Phe1517Ser)
|
rs1575697378
|
|
NM_000092.5(COL4A4):c.680G>A (p.Arg227His)
|
rs368248078
|
|
NM_000100.4(CSTB):c.67-4C>G
|
rs2084002305
|
|
NM_000110.4(DPYD):c.1310C>T (p.Ala437Val)
|
rs1290815802
|
|
NM_000110.4(DPYD):c.1654A>G (p.Thr552Ala)
|
rs771648776
|
|
NM_000122.2(ERCC3):c.1291A>C (p.Lys431Gln)
|
rs1573957226
|
|
NM_000144.5(FXN):c.125T>G (p.Leu42Arg)
|
|
|
NM_000144.5(FXN):c.128G>C (p.Arg43Pro)
|
rs752207437
|
|
NM_000144.5(FXN):c.171G>C (p.Ser57=)
|
rs767221228
|
|
NM_000144.5(FXN):c.185T>C (p.Leu62Pro)
|
|
|
NM_000144.5(FXN):c.221A>G (p.Tyr74Cys)
|
rs750274023
|
|
NM_000144.5(FXN):c.227T>G (p.Met76Arg)
|
|
|
NM_000144.5(FXN):c.290G>A (p.Arg97Lys)
|
rs1378785673
|
|
NM_000144.5(FXN):c.323_324delinsTT (p.Glu108Val)
|
rs1587821826
|
|
NM_000144.5(FXN):c.427T>C (p.Tyr143His)
|
rs2133127151
|
|
NM_000144.5(FXN):c.472T>G (p.Ser158Ala)
|
rs748916855
|
|
NM_000144.5(FXN):c.483-7C>T
|
|
|
NM_000144.5(FXN):c.623A>G (p.Lys208Arg)
|
|
|
NM_000144.5(FXN):c.97T>G (p.Leu33Val)
|
|
|
NM_000152.5(GAA):c.*187_*203delinsGGG
|
|
|
NM_000161.3(GCH1):c.260A>C (p.Gln87Pro)
|
rs1595031190
|
|
NM_000161.3(GCH1):c.295G>T (p.Ala99Ser)
|
rs1566687219
|
|
NM_000161.3(GCH1):c.669C>A (p.Ser223Arg)
|
rs1594968409
|
|
NM_000162.5(GCK):c.1064T>C (p.Leu355Pro)
|
rs1583592156
|
|
NM_000162.5(GCK):c.1087G>A (p.Asp363Asn)
|
rs1064793134
|
|
NM_000162.5(GCK):c.1108G>C (p.Ala370Pro)
|
|
|
NM_000162.5(GCK):c.1123T>C (p.Ser375Pro)
|
rs1454408814
|
|
NM_000162.5(GCK):c.1129C>T (p.Arg377Cys)
|
rs1471992838
|
|
NM_000162.5(GCK):c.1136C>G (p.Ala379Gly)
|
rs193922265
|
|
NM_000162.5(GCK):c.1145G>A (p.Cys382Tyr)
|
rs2096271616
|
|
NM_000162.5(GCK):c.1147T>C (p.Ser383Pro)
|
rs749298368
|
|
NM_000162.5(GCK):c.1150G>C (p.Ala384Pro)
|
rs1376620210
|
|
NM_000162.5(GCK):c.1151C>T (p.Ala384Val)
|
rs1583591747
|
|
NM_000162.5(GCK):c.1156C>G (p.Leu386Val)
|
rs1583591700
|
|
NM_000162.5(GCK):c.115_117del (p.Lys39del)
|
rs2096283216
|
|
NM_000162.5(GCK):c.1163G>A (p.Gly388Asp)
|
rs2096271482
|
|
NM_000162.5(GCK):c.1190G>A (p.Arg397His)
|
rs193929375
|
|
NM_000162.5(GCK):c.1207C>G (p.Arg403Gly)
|
rs193922271
|
|
NM_000162.5(GCK):c.1217_1219dup (p.Val406dup)
|
rs2128819145
|
|
NM_000162.5(GCK):c.121A>G (p.Met41Val)
|
rs1583604693
|
|
NM_000162.5(GCK):c.1220G>A (p.Gly407Asp)
|
|
|
NM_000162.5(GCK):c.1229G>A (p.Gly410Asp)
|
rs1554334546
|
|
NM_000162.5(GCK):c.122T>C (p.Met41Thr)
|
rs1057524906
|
|
NM_000162.5(GCK):c.1242G>T (p.Lys414Asn)
|
|
|
NM_000162.5(GCK):c.1247A>C (p.His416Pro)
|
rs1583591303
|
|
NM_000162.5(GCK):c.1253+3G>T
|
rs911506580
|
|
NM_000162.5(GCK):c.1265G>C (p.Arg422Pro)
|
rs1010302320
|
|
NM_000162.5(GCK):c.1280T>G (p.Val427Gly)
|
rs1562712097
|
|
NM_000162.5(GCK):c.1310C>T (p.Thr437Ile)
|
rs1185622190
|
|
NM_000162.5(GCK):c.1322C>T (p.Ser441Leu)
|
rs1286804191
|
|
NM_000162.5(GCK):c.1340G>C (p.Arg447Pro)
|
rs1131691416
|
|
NM_000162.5(GCK):c.1350_1361del (p.Leu451_Ala454del)
|
rs1583590383
|
|
NM_000162.5(GCK):c.167A>C (p.Lys56Thr)
|
|
|
NM_000162.5(GCK):c.170T>A (p.Met57Lys)
|
|
|
NM_000162.5(GCK):c.207A>G (p.Ser69=)
|
rs779548342
|
|
NM_000162.5(GCK):c.227C>A (p.Ser76Tyr)
|
|
|
NM_000162.5(GCK):c.230T>C (p.Leu77Pro)
|
rs2096281827
|
|
NM_000162.5(GCK):c.234C>A (p.Asp78Glu)
|
|
|
NM_000162.5(GCK):c.28G>A (p.Ala10Thr)
|
|
|
NM_000162.5(GCK):c.332C>T (p.Pro111Leu)
|
|
|
NM_000162.5(GCK):c.343A>G (p.Met115Val)
|
|
|
NM_000162.5(GCK):c.364C>G (p.Leu122Val)
|
rs1554335616
|
|
NM_000162.5(GCK):c.370G>C (p.Asp124His)
|
rs759072800
|
|
NM_000162.5(GCK):c.377T>C (p.Ile126Thr)
|
rs1562718220
|
|
NM_000162.5(GCK):c.386G>T (p.Cys129Phe)
|
|
|
NM_000162.5(GCK):c.454T>C (p.Phe152Leu)
|
rs2096280050
|
|
NM_000162.5(GCK):c.457C>T (p.Pro153Ser)
|
rs193922300
|
|
NM_000162.5(GCK):c.466C>T (p.His156Tyr)
|
rs1562718043
|
|
NM_000162.5(GCK):c.527C>A (p.Ala176Glu)
|
rs193922304
|
|
NM_000162.5(GCK):c.542T>C (p.Val181Ala)
|
rs193922306
|
|
NM_000162.5(GCK):c.554T>G (p.Leu185Arg)
|
rs1583599749
|
|
NM_000162.5(GCK):c.557G>A (p.Arg186Gln)
|
|
|
NM_000162.5(GCK):c.571C>G (p.Arg191Gly)
|
rs1085307455
|
|
NM_000162.5(GCK):c.579+8G>A
|
rs1562717232
|
|
NM_000162.5(GCK):c.595G>A (p.Val199Met)
|
rs1554335417
|
|
NM_000162.5(GCK):c.601G>T (p.Ala201Ser)
|
rs794727775
|
|
NM_000162.5(GCK):c.615C>A (p.Asp205Glu)
|
|
|
NM_000162.5(GCK):c.623C>T (p.Ala208Val)
|
rs746913146
|
|
NM_000162.5(GCK):c.629T>C (p.Met210Thr)
|
rs80356654
|
|
NM_000162.5(GCK):c.638_640del (p.Cys213del)
|
rs1583599241
|
|
NM_000162.5(GCK):c.666C>A (p.Val222=)
|
|
|
NM_000162.5(GCK):c.679+3A>C
|
|
|
NM_000162.5(GCK):c.680-15C>A
|
rs369345791
|
|
NM_000162.5(GCK):c.680-19C>T
|
|
|
NM_000162.5(GCK):c.688T>C (p.Cys230Arg)
|
rs794727839
|
|
NM_000162.5(GCK):c.701A>G (p.Tyr234Cys)
|
rs1562715620
|
|
NM_000162.5(GCK):c.707A>T (p.Glu236Val)
|
|
|
NM_000162.5(GCK):c.710A>T (p.Glu237Val)
|
|
|
NM_000162.5(GCK):c.730G>A (p.Val244Met)
|
rs1240035630
|
|
NM_000162.5(GCK):c.734A>G (p.Glu245Gly)
|
rs1583596546
|
|
NM_000162.5(GCK):c.736G>A (p.Gly246Arg)
|
rs2096275721
|
|
NM_000162.5(GCK):c.737G>C (p.Gly246Ala)
|
rs1583596522
|
|
NM_000162.5(GCK):c.741C>G (p.Asp247Glu)
|
|
|
NM_000162.5(GCK):c.758T>C (p.Val253Ala)
|
rs193921400
|
|
NM_000162.5(GCK):c.758T>G (p.Val253Gly)
|
rs193921400
|
|
NM_000162.5(GCK):c.770G>C (p.Trp257Ser)
|
rs1562715426
|
|
NM_000162.5(GCK):c.772G>T (p.Gly258Cys)
|
rs1583596378
|
|
NM_000162.5(GCK):c.802G>A (p.Glu268Lys)
|
rs1554335111
|
|
NM_000162.5(GCK):c.809T>C (p.Leu270Pro)
|
rs1583596227
|
|
NM_000162.5(GCK):c.822C>A (p.Asp274Glu)
|
rs756251613
|
|
NM_000162.5(GCK):c.833A>T (p.Asp278Val)
|
rs193922333
|
|
NM_000162.5(GCK):c.85G>T (p.Asp29Tyr)
|
|
|
NM_000162.5(GCK):c.863+3A>G
|
rs193922334
|
|
NM_000162.5(GCK):c.868G>A (p.Glu290Lys)
|
rs1487194256
|
|
NM_000162.5(GCK):c.904G>C (p.Val302Leu)
|
rs1583594501
|
|
NM_000162.5(GCK):c.914T>G (p.Val305Gly)
|
rs2096273846
|
|
NM_000162.5(GCK):c.917T>C (p.Leu306Pro)
|
rs193922337
|
|
NM_000162.5(GCK):c.943C>T (p.Leu315Phe)
|
rs1583594350
|
|
NM_000162.5(GCK):c.946T>G (p.Phe316Val)
|
|
|
NM_000162.5(GCK):c.971T>G (p.Leu324Arg)
|
rs193922341
|
|
NM_000162.5(GCK):c.990C>T (p.Phe330=)
|
rs773582328
|
|
NM_000162.5(GCK):c.995C>G (p.Thr332Arg)
|
rs770231054
|
|
NM_000166.6(GJB1):c.-17+10C>A
|
rs2092541241
|
|
NM_000166.6(GJB1):c.-45G>T
|
|
|
NM_000166.6(GJB1):c.109G>T (p.Val37Leu)
|
rs1057518946
|
|
NM_000166.6(GJB1):c.118G>A (p.Ala40Thr)
|
rs1602348782
|
|
NM_000166.6(GJB1):c.147T>C (p.Ser49=)
|
rs2092542885
|
|
NM_000166.6(GJB1):c.149C>G (p.Ser50Cys)
|
rs2092542910
|
|
NM_000166.6(GJB1):c.176G>A (p.Gly59Asp)
|
|
|
NM_000166.6(GJB1):c.192C>G (p.Cys64Trp)
|
rs2147945443
|
|
NM_000166.6(GJB1):c.268C>A (p.Leu90Ile)
|
rs1299325261
|
|
NM_000166.6(GJB1):c.26T>C (p.Leu9Ser)
|
rs1569214971
|
|
NM_000166.6(GJB1):c.299A>T (p.His100Leu)
|
rs1602349133
|
|
NM_000166.6(GJB1):c.386G>A (p.Gly129Glu)
|
rs1602349280
|
|
NM_000166.6(GJB1):c.389C>T (p.Thr130Ile)
|
rs1602349283
|
|
NM_000166.6(GJB1):c.563CCGTCTTCA[1] (p.188TVF[1])
|
rs116840823
|
|
NM_000166.6(GJB1):c.592T>C (p.Ser198Pro)
|
rs1555937259
|
|
NM_000166.6(GJB1):c.617T>G (p.Val206Gly)
|
rs1569215431
|
|
NM_000166.6(GJB1):c.713G>T (p.Arg238Leu)
|
rs776206757
|
|
NM_000166.6(GJB1):c.7T>C (p.Trp3Arg)
|
rs1602348537
|
|
NM_000169.3(GLA):c.1103C>T (p.Ala368Val)
|
|
|
NM_000170.3(GLDC):c.1791G>T (p.Glu597Asp)
|
rs141875337
|
|
NM_000170.3(GLDC):c.2876A>G (p.His959Arg)
|
rs572523552
|
|
NM_000209.4(PDX1):c.102G>A (p.Ala34=)
|
|
|
NM_000209.4(PDX1):c.279C>T (p.Pro93=)
|
|
|
NM_000209.4(PDX1):c.455C>T (p.Ala152Val)
|
rs1355562073
|
|
NM_000209.4(PDX1):c.474G>T (p.Leu158=)
|
rs1957808858
|
|
NM_000214.3(JAG1):c.830A>G (p.Asn277Ser)
|
|
|
NM_000216.4(ANOS1):c.515G>C (p.Cys172Ser)
|
rs1930749813
|
|
NM_000217.3(KCNA1):c.1371C>T (p.Ile457=)
|
|
|
NM_000217.3(KCNA1):c.357T>C (p.Phe119=)
|
|
|
NM_000217.3(KCNA1):c.837C>A (p.Asn279Lys)
|
rs1591627786
|
|
NM_000217.3(KCNA1):c.884G>A (p.Arg295His)
|
rs778463081
|
|
NM_000218.3(KCNQ1):c.1252-9T>G
|
|
|
NM_000231.3(SGCG):c.*2C>T
|
|
|
NM_000231.3(SGCG):c.637G>T (p.Ala213Ser)
|
rs1883004416
|
|
NM_000232.5(SGCB):c.12GGC[5] (p.Ala9dup)
|
rs768838951
|
|
NM_000232.5(SGCB):c.374G>A (p.Ser125Asn)
|
rs1560567674
|
|
NM_000232.5(SGCB):c.430-5dup
|
rs762831481
|
|
NM_000232.5(SGCB):c.809G>A (p.Ser270Asn)
|
|
|
NM_000232.5(SGCB):c.9_14dup (p.Ala8_Ala9dup)
|
rs886044103
|
|
NM_000233.4(LHCGR):c.1715C>T (p.Ala572Val)
|
rs121912522
|
|
NM_000238.4(KCNH2):c.302A>G (p.Lys101Arg)
|
rs2117062159
|
|
NM_000238.4(KCNH2):c.3185C>T (p.Thr1062Ile)
|
rs761811244
|
|
NM_000238.4(KCNH2):c.670G>A (p.Gly224Arg)
|
rs794728358
|
|
NM_000238.4(KCNH2):c.872T>G (p.Met291Arg)
|
rs199472881
|
|
NM_000256.3(MYBPC3):c.1625-8C>A
|
|
|
NM_000256.3(MYBPC3):c.4C>A (p.Pro2Thr)
|
rs1565632363
|
|
NM_000257.4(MYH7):c.5020G>T (p.Val1674Leu)
|
rs397516235
|
|
NM_000260.4(MYO7A):c.2759G>T (p.Arg920Leu)
|
rs565162134
|
|
NM_000260.4(MYO7A):c.3503+10_3503+32delinsA
|
rs1955533165
|
|
NM_000268.4(NF2):c.904G>A (p.Gly302Arg)
|
rs1255367068
|
|
NM_000271.5(NPC1):c.2864C>T (p.Ser955Phe)
|
|
|
NM_000287.4(PEX6):c.1992G>T (p.Glu664Asp)
|
|
|
NM_000297.4(PKD2):c.1298T>C (p.Ile433Thr)
|
rs1192846098
|
|
NM_000297.4(PKD2):c.1326G>T (p.Leu442Phe)
|
|
|
NM_000297.4(PKD2):c.1346G>T (p.Gly449Val)
|
rs1131408
|
|
NM_000297.4(PKD2):c.1556T>A (p.Val519Glu)
|
|
|
NM_000297.4(PKD2):c.1641C>A (p.Asn547Lys)
|
|
|
NM_000297.4(PKD2):c.1912C>T (p.Arg638Cys)
|
|
|
NM_000297.4(PKD2):c.2019G>T (p.Leu673Phe)
|
|
|
NM_000297.4(PKD2):c.2051_2053del (p.Tyr684del)
|
rs1578144872
|
|
NM_000297.4(PKD2):c.2207T>C (p.Leu736Ser)
|
rs868519938
|
|
NM_000297.4(PKD2):c.2651T>C (p.Leu884Pro)
|
|
|
NM_000297.4(PKD2):c.289G>C (p.Glu97Gln)
|
rs1578111365
|
|
NM_000304.4(PMP22):c.31_39del (p.Leu11_Val13del)
|
rs1567719323
|
|
NM_000304.4(PMP22):c.362A>G (p.His121Arg)
|
rs1567698985
|
|
NM_000304.4(PMP22):c.398G>A (p.Gly133Asp)
|
rs1411246019
|
|
NM_000304.4(PMP22):c.406T>A (p.Tyr136Asn)
|
rs1906274147
|
|
NM_000304.4(PMP22):c.79-16A>C
|
rs373417110
|
|
NM_000334.4(SCN4A):c.1585G>A (p.Gly529Ser)
|
rs143457794
|
|
NM_000334.4(SCN4A):c.2096C>A (p.Ala699Glu)
|
rs1395381249
|
|
NM_000334.4(SCN4A):c.2101G>C (p.Gly701Arg)
|
rs1909105377
|
|
NM_000334.4(SCN4A):c.2150T>C (p.Val717Ala)
|
rs1567823095
|
|
NM_000334.4(SCN4A):c.235C>A (p.Pro79Thr)
|
rs376505442
|
|
NM_000334.4(SCN4A):c.2514C>T (p.Ala838=)
|
rs2144787155
|
|
NM_000334.4(SCN4A):c.2578G>A (p.Glu860Lys)
|
rs1346024466
|
|
NM_000334.4(SCN4A):c.2585_2602del (p.Asp862_Ala867del)
|
rs776181227
|
|
NM_000334.4(SCN4A):c.296G>T (p.Gly99Val)
|
rs2143026945
|
|
NM_000334.4(SCN4A):c.301G>A (p.Ala101Thr)
|
|
|
NM_000334.4(SCN4A):c.3262G>A (p.Gly1088Ser)
|
rs1282585219
|
|
NM_000334.4(SCN4A):c.3286G>C (p.Ala1096Pro)
|
rs766002690
|
|
NM_000334.4(SCN4A):c.3336G>C (p.Leu1112Phe)
|
rs764409572
|
|
NM_000334.4(SCN4A):c.3430G>A (p.Glu1144Lys)
|
rs751443439
|
|
NM_000334.4(SCN4A):c.3466G>T (p.Ala1156Ser)
|
rs80338958
|
|
NM_000334.4(SCN4A):c.349T>C (p.Phe117Leu)
|
rs1567829697
|
|
NM_000334.4(SCN4A):c.3558C>A (p.Phe1186Leu)
|
rs147610324
|
|
NM_000334.4(SCN4A):c.3696G>A (p.Leu1232=)
|
rs2144779293
|
|
NM_000334.4(SCN4A):c.4031G>C (p.Gly1344Ala)
|
rs371949054
|
|
NM_000334.4(SCN4A):c.4080G>T (p.Met1360Ile)
|
rs774789710
|
|
NM_000334.4(SCN4A):c.4088T>A (p.Ile1363Asn)
|
rs1567817027
|
|
NM_000334.4(SCN4A):c.4297C>T (p.Leu1433Phe)
|
|
|
NM_000334.4(SCN4A):c.4343G>T (p.Arg1448Leu)
|
rs121908545
|
|
NM_000334.4(SCN4A):c.4352G>A (p.Arg1451His)
|
rs748517635
|
|
NM_000334.4(SCN4A):c.4481T>A (p.Phe1494Tyr)
|
|
|
NM_000334.4(SCN4A):c.4591G>A (p.Glu1531Lys)
|
rs1555600732
|
|
NM_000334.4(SCN4A):c.4759C>T (p.Leu1587Phe)
|
rs1567816227
|
|
NM_000334.4(SCN4A):c.4778A>T (p.Tyr1593Phe)
|
rs1908530350
|
|
NM_000334.4(SCN4A):c.4825A>C (p.Ser1609Arg)
|
rs1555600678
|
|
NM_000334.4(SCN4A):c.5051C>T (p.Thr1684Ile)
|
rs541964442
|
|
NM_000334.4(SCN4A):c.5104G>A (p.Glu1702Lys)
|
rs1555600605
|
|
NM_000334.4(SCN4A):c.5104GAG[1] (p.Glu1703del)
|
rs1464481652
|
|
NM_000334.4(SCN4A):c.5105A>G (p.Glu1702Gly)
|
rs1555600604
|
|
NM_000334.4(SCN4A):c.5162C>T (p.Thr1721Ile)
|
rs1172419975
|
|
NM_000334.4(SCN4A):c.5172G>A (p.Arg1724=)
|
|
|
NM_000334.4(SCN4A):c.5229A>G (p.Leu1743=)
|
rs1908508905
|
|
NM_000334.4(SCN4A):c.55C>T (p.Pro19Ser)
|
rs772628295
|
|
NM_000334.4(SCN4A):c.781C>A (p.Leu261Met)
|
rs1597985492
|
|
NM_000334.4(SCN4A):c.794C>A (p.Ala265Glu)
|
rs749502925
|
|
NM_000334.4(SCN4A):c.888C>T (p.Ser296=)
|
|
|
NM_000335.5(SCN5A):c.1355G>T (p.Gly452Val)
|
rs794728855
|
|
NM_000335.5(SCN5A):c.3208GAG[2] (p.Glu1072del)
|
rs758282196
|
|
NM_000335.5(SCN5A):c.3388-10_3388-9del
|
rs2061494723
|
|
NM_000335.5(SCN5A):c.393-5C>T
|
rs368678204
|
|
NM_000335.5(SCN5A):c.396C>T (p.Leu132=)
|
|
|
NM_000336.3(SCNN1B):c.1163G>A (p.Arg388His)
|
|
|
NM_000338.3(SLC12A1):c.206G>A (p.Cys69Tyr)
|
rs143141941
|
|
NM_000338.3(SLC12A1):c.2338G>C (p.Gly780Arg)
|
rs1566849200
|
|
NM_000338.3(SLC12A1):c.2435T>G (p.Ile812Arg)
|
rs201516084
|
|
NM_000338.3(SLC12A1):c.2770C>T (p.Leu924Phe)
|
rs1597456429
|
|
NM_000344.4(SMN1):c.223G>A (p.Ala75Thr)
|
|
|
NM_000344.4(SMN1):c.242A>T (p.Gln81Leu)
|
rs1580886807
|
|
NM_000344.4(SMN1):c.490C>A (p.Gln164Lys)
|
rs1561499713
|
|
NM_000344.4(SMN1):c.618A>G (p.Gly206=)
|
|
|
NM_000344.4(SMN1):c.708T>G (p.Phe236Leu)
|
|
|
NM_000344.4(SMN1):c.855_858del (p.Arg288fs)
|
rs1475940018
|
|
NM_000344.4(SMN1):c.873T>A (p.His291Gln)
|
rs1561503207
|
|
NM_000352.6(ABCC8):c.1106A>G (p.Gln369Arg)
|
rs756808492
|
|
NM_000352.6(ABCC8):c.1178C>T (p.Thr393Ile)
|
rs377104807
|
|
NM_000352.6(ABCC8):c.1220T>A (p.Leu407Gln)
|
rs1564955834
|
|
NM_000352.6(ABCC8):c.1818-7del
|
rs1955709311
|
|
NM_000352.6(ABCC8):c.4090G>A (p.Val1364Ile)
|
rs138642224
|
|
NM_000352.6(ABCC8):c.4268T>G (p.Ile1423Ser)
|
rs1564874456
|
|
NM_000352.6(ABCC8):c.4274T>C (p.Leu1425Pro)
|
rs1953879871
|
|
NM_000352.6(ABCC8):c.640G>A (p.Gly214Arg)
|
rs1274656446
|
|
NM_000352.6(ABCC8):c.823C>T (p.Arg275Trp)
|
|
|
NM_000365.6(TPI1):c.49G>A (p.Gly17Arg)
|
|
|
NM_000370.3(TTPA):c.101G>A (p.Arg34Gln)
|
|
|
NM_000370.3(TTPA):c.143C>T (p.Thr48Ile)
|
rs2129795826
|
|
NM_000370.3(TTPA):c.682A>G (p.Asn228Asp)
|
|
|
NM_000371.4(TTR):c.184G>A (p.Glu62Lys)
|
|
|
NM_000371.4(TTR):c.326A>T (p.Glu109Val)
|
rs2073511444
|
|
NM_000383.4(AIRE):c.925A>G (p.Ile309Val)
|
rs936714310
|
|
NM_000388.4(CASR):c.101T>C (p.Leu34Pro)
|
rs1559955362
|
|
NM_000388.4(CASR):c.1309T>C (p.Cys437Arg)
|
rs1559959958
|
|
NM_000388.4(CASR):c.1340G>T (p.Gly447Val)
|
|
|
NM_000388.4(CASR):c.1466A>G (p.Tyr489Cys)
|
rs1553768108
|
|
NM_000388.4(CASR):c.1608+5G>A
|
rs2107643797
|
|
NM_000388.4(CASR):c.1608+5del
|
rs2074816023
|
|
NM_000388.4(CASR):c.1658G>T (p.Gly553Val)
|
rs1576875807
|
|
NM_000388.4(CASR):c.1687T>C (p.Phe563Leu)
|
rs2074898883
|
|
NM_000388.4(CASR):c.1693T>G (p.Cys565Gly)
|
rs1559967708
|
|
NM_000388.4(CASR):c.1732+10C>T
|
rs201859314
|
|
NM_000388.4(CASR):c.179G>T (p.Cys60Phe)
|
rs772906030
|
|
NM_000388.4(CASR):c.1901T>C (p.Phe634Ser)
|
rs2107649591
|
|
NM_000388.4(CASR):c.1919C>T (p.Thr640Ile)
|
rs1559968450
|
|
NM_000388.4(CASR):c.197G>T (p.Arg66Leu)
|
rs1276839362
|
|
NM_000388.4(CASR):c.2023T>C (p.Trp675Arg)
|
rs2107649805
|
|
NM_000388.4(CASR):c.2054G>A (p.Gly685Asp)
|
|
|
NM_000388.4(CASR):c.2061C>A (p.Ser687Arg)
|
rs2074930161
|
|
NM_000388.4(CASR):c.2071T>G (p.Cys691Gly)
|
|
|
NM_000388.4(CASR):c.2111T>C (p.Leu704Pro)
|
rs1559968657
|
|
NM_000388.4(CASR):c.2129T>C (p.Ile710Thr)
|
rs2107649977
|
|
NM_000388.4(CASR):c.2240C>G (p.Pro747Arg)
|
|
|
NM_000388.4(CASR):c.2243C>T (p.Pro748Leu)
|
rs193922433
|
|
NM_000388.4(CASR):c.2306C>G (p.Ser769Cys)
|
|
|
NM_000388.4(CASR):c.2392C>T (p.Pro798Ser)
|
rs1576877924
|
|
NM_000388.4(CASR):c.2397G>C (p.Glu799Asp)
|
rs752953216
|
|
NM_000388.4(CASR):c.2557T>G (p.Phe853Val)
|
rs1576878133
|
|
NM_000388.4(CASR):c.2656C>G (p.Arg886Gly)
|
|
|
NM_000388.4(CASR):c.3040C>T (p.Leu1014Phe)
|
rs202219108
|
|
NM_000388.4(CASR):c.329C>A (p.Ala110Asp)
|
rs1559956624
|
|
NM_000388.4(CASR):c.449C>T (p.Ser150Phe)
|
rs1559956735
|
|
NM_000388.4(CASR):c.467T>C (p.Leu156Pro)
|
rs2107627878
|
|
NM_000388.4(CASR):c.470T>C (p.Leu157Pro)
|
rs1553766286
|
|
NM_000388.4(CASR):c.488C>G (p.Pro163Arg)
|
|
|
NM_000388.4(CASR):c.527A>G (p.Asn176Ser)
|
rs1060502849
|
|
NM_000388.4(CASR):c.533A>G (p.Asn178Ser)
|
|
|
NM_000388.4(CASR):c.554G>C (p.Arg185Pro)
|
rs104893689
|
|
NM_000388.4(CASR):c.893C>T (p.Ala298Val)
|
rs1064797049
|
|
NM_000393.5(COL5A2):c.4417C>T (p.Pro1473Ser)
|
|
|
NM_000399.5(EGR2):c.1192T>C (p.Phe398Leu)
|
|
|
NM_000399.5(EGR2):c.206G>A (p.Arg69Lys)
|
rs776869045
|
|
NM_000399.5(EGR2):c.307C>T (p.Pro103Ser)
|
|
|
NM_000399.5(EGR2):c.469A>T (p.Thr157Ser)
|
|
|
NM_000414.4(HSD17B4):c.694G>A (p.Glu232Lys)
|
|
|
NM_000426.4(LAMA2):c.1623T>A (p.Ser541Arg)
|
|
|
NM_000426.4(LAMA2):c.2239G>T (p.Gly747Cys)
|
|
|
NM_000426.4(LAMA2):c.3317G>A (p.Cys1106Tyr)
|
rs371548755
|
|
NM_000426.4(LAMA2):c.4321C>A (p.His1441Asn)
|
rs1562477412
|
|
NM_000426.4(LAMA2):c.4909G>C (p.Glu1637Gln)
|
rs138303386
|
|
NM_000426.4(LAMA2):c.6158C>T (p.Ala2053Val)
|
rs1562566133
|
|
NM_000426.4(LAMA2):c.6332A>T (p.Asp2111Val)
|
|
|
NM_000426.4(LAMA2):c.6764T>C (p.Ile2255Thr)
|
rs951339046
|
|
NM_000426.4(LAMA2):c.8857G>A (p.Val2953Ile)
|
rs1211031170
|
|
NM_000435.3(NOTCH3):c.1027G>C (p.Gly343Arg)
|
rs1599393810
|
|
NM_000435.3(NOTCH3):c.1044G>A (p.Leu348=)
|
|
|
NM_000435.3(NOTCH3):c.1051C>A (p.Leu351Met)
|
rs1599392148
|
|
NM_000435.3(NOTCH3):c.1193-10C>T
|
|
|
NM_000435.3(NOTCH3):c.1262G>A (p.Arg421His)
|
rs2145436323
|
|
NM_000435.3(NOTCH3):c.1313G>T (p.Gly438Val)
|
|
|
NM_000435.3(NOTCH3):c.1322G>A (p.Arg441Gln)
|
|
|
NM_000435.3(NOTCH3):c.1368_1369del (p.Ile456fs)
|
rs2145435979
|
|
NM_000435.3(NOTCH3):c.1375G>C (p.Ala459Pro)
|
rs370186772
|
|
NM_000435.3(NOTCH3):c.139A>G (p.Ser47Gly)
|
rs775259883
|
|
NM_000435.3(NOTCH3):c.1414G>A (p.Glu472Lys)
|
|
|
NM_000435.3(NOTCH3):c.1449C>T (p.Val483=)
|
|
|
NM_000435.3(NOTCH3):c.1492+2T>C
|
|
|
NM_000435.3(NOTCH3):c.1576C>T (p.Pro526Ser)
|
|
|
NM_000435.3(NOTCH3):c.161G>A (p.Arg54His)
|
rs754104109
|
|
NM_000435.3(NOTCH3):c.1621C>A (p.Leu541Met)
|
rs1410670785
|
|
NM_000435.3(NOTCH3):c.1635C>G (p.Asn545Lys)
|
|
|
NM_000435.3(NOTCH3):c.1749G>A (p.Val583=)
|
|
|
NM_000435.3(NOTCH3):c.1840+3G>A
|
rs2046888185
|
|
NM_000435.3(NOTCH3):c.1957C>A (p.Leu653Ile)
|
rs1336688514
|
|
NM_000435.3(NOTCH3):c.1966G>C (p.Val656Leu)
|
rs560752299
|
|
NM_000435.3(NOTCH3):c.197+8C>T
|
|
|
NM_000435.3(NOTCH3):c.2011T>A (p.Ser671Thr)
|
|
|
NM_000435.3(NOTCH3):c.2071C>A (p.Leu691Ile)
|
|
|
NM_000435.3(NOTCH3):c.218G>T (p.Gly73Val)
|
|
|
NM_000435.3(NOTCH3):c.231G>C (p.Gln77His)
|
rs1438944422
|
|
NM_000435.3(NOTCH3):c.2539G>A (p.Asp847Asn)
|
|
|
NM_000435.3(NOTCH3):c.2660A>C (p.Asp887Ala)
|
|
|
NM_000435.3(NOTCH3):c.2717C>T (p.Ala906Val)
|
rs754997329
|
|
NM_000435.3(NOTCH3):c.2741_2742delinsAG (p.Pro914Gln)
|
rs2145423971
|
|
NM_000435.3(NOTCH3):c.2749G>A (p.Gly917Arg)
|
rs150338460
|
|
NM_000435.3(NOTCH3):c.2793-8C>A
|
rs960266832
|
|
NM_000435.3(NOTCH3):c.2827G>T (p.Val943Leu)
|
rs764894150
|
|
NM_000435.3(NOTCH3):c.2879A>T (p.Gln960Leu)
|
|
|
NM_000435.3(NOTCH3):c.2905C>T (p.Arg969Trp)
|
|
|
NM_000435.3(NOTCH3):c.2996C>T (p.Thr999Met)
|
|
|
NM_000435.3(NOTCH3):c.3130G>T (p.Ala1044Ser)
|
rs767672719
|
|
NM_000435.3(NOTCH3):c.3193G>A (p.Asp1065Asn)
|
rs920169956
|
|
NM_000435.3(NOTCH3):c.320G>A (p.Arg107Gln)
|
|
|
NM_000435.3(NOTCH3):c.3472G>A (p.Glu1158Lys)
|
|
|
NM_000435.3(NOTCH3):c.363T>A (p.Asp121Glu)
|
rs2046935214
|
|
NM_000435.3(NOTCH3):c.3757_3758delinsAG (p.Gln1253Arg)
|
rs2046814637
|
|
NM_000435.3(NOTCH3):c.3829_3835del (p.Cys1277fs)
|
|
|
NM_000435.3(NOTCH3):c.3837+10G>T
|
rs1555727565
|
|
NM_000435.3(NOTCH3):c.3865del (p.Val1289fs)
|
rs2046807565
|
|
NM_000435.3(NOTCH3):c.391G>A (p.Gly131Ser)
|
rs767150916
|
|
NM_000435.3(NOTCH3):c.4004_4006dup (p.Ser1335dup)
|
rs1555727412
|
|
NM_000435.3(NOTCH3):c.4029del (p.Cys1344fs)
|
|
|
NM_000435.3(NOTCH3):c.4203C>T (p.Cys1401=)
|
|
|
NM_000435.3(NOTCH3):c.4267G>A (p.Asp1423Asn)
|
rs2145414624
|
|
NM_000435.3(NOTCH3):c.427C>T (p.Leu143Phe)
|
rs772201554
|
|
NM_000435.3(NOTCH3):c.4404-6C>G
|
rs1157189739
|
|
NM_000435.3(NOTCH3):c.4417_4428dup (p.Lys1473_Ala1476dup)
|
rs1599374922
|
|
NM_000435.3(NOTCH3):c.4418_4422del (p.Lys1473fs)
|
rs2046769538
|
|
NM_000435.3(NOTCH3):c.4521G>A (p.Leu1507=)
|
|
|
NM_000435.3(NOTCH3):c.4528C>T (p.Arg1510Cys)
|
rs763870059
|
|
NM_000435.3(NOTCH3):c.4627C>A (p.Leu1543Met)
|
rs111838442
|
|
NM_000435.3(NOTCH3):c.4637G>A (p.Arg1546His)
|
|
|
NM_000435.3(NOTCH3):c.4737-7C>G
|
|
|
NM_000435.3(NOTCH3):c.4944_4945dup (p.Ala1649fs)
|
rs2046723155
|
|
NM_000435.3(NOTCH3):c.5000G>A (p.Arg1667His)
|
|
|
NM_000435.3(NOTCH3):c.5014A>T (p.Ser1672Cys)
|
|
|
NM_000435.3(NOTCH3):c.5149G>A (p.Val1717Met)
|
|
|
NM_000435.3(NOTCH3):c.5180C>G (p.Pro1727Arg)
|
rs989373826
|
|
NM_000435.3(NOTCH3):c.5203G>C (p.Glu1735Gln)
|
|
|
NM_000435.3(NOTCH3):c.5285T>C (p.Val1762Ala)
|
rs750747488
|
|
NM_000435.3(NOTCH3):c.530C>T (p.Thr177Ile)
|
rs919800459
|
|
NM_000435.3(NOTCH3):c.5738C>T (p.Ala1913Val)
|
|
|
NM_000435.3(NOTCH3):c.5798A>G (p.Asn1933Ser)
|
|
|
NM_000435.3(NOTCH3):c.583G>A (p.Glu195Lys)
|
rs1599394696
|
|
NM_000435.3(NOTCH3):c.5901G>A (p.Met1967Ile)
|
rs373866355
|
|
NM_000435.3(NOTCH3):c.5990A>G (p.Asn1997Ser)
|
|
|
NM_000435.3(NOTCH3):c.6016A>T (p.Arg2006Trp)
|
rs375674115
|
|
NM_000435.3(NOTCH3):c.6035C>G (p.Ala2012Gly)
|
|
|
NM_000435.3(NOTCH3):c.6097C>A (p.Pro2033Thr)
|
rs375213868
|
|
NM_000435.3(NOTCH3):c.6102dup (p.Gly2035fs)
|
|
|
NM_000435.3(NOTCH3):c.6129C>T (p.Leu2043=)
|
rs943996920
|
|
NM_000435.3(NOTCH3):c.6241G>A (p.Gly2081Ser)
|
|
|
NM_000435.3(NOTCH3):c.6276G>A (p.Leu2092=)
|
|
|
NM_000435.3(NOTCH3):c.6378C>T (p.Pro2126=)
|
|
|
NM_000435.3(NOTCH3):c.6446G>A (p.Gly2149Glu)
|
|
|
NM_000435.3(NOTCH3):c.6463G>C (p.Gly2155Arg)
|
|
|
NM_000435.3(NOTCH3):c.6505C>T (p.Pro2169Ser)
|
|
|
NM_000435.3(NOTCH3):c.6538C>A (p.Pro2180Thr)
|
|
|
NM_000435.3(NOTCH3):c.6681C>G (p.His2227Gln)
|
rs1366113655
|
|
NM_000435.3(NOTCH3):c.6694A>G (p.Lys2232Glu)
|
|
|
NM_000435.3(NOTCH3):c.6726C>T (p.His2242=)
|
|
|
NM_000435.3(NOTCH3):c.6850A>T (p.Thr2284Ser)
|
rs1177268940
|
|
NM_000435.3(NOTCH3):c.724G>C (p.Gly242Arg)
|
|
|
NM_000435.3(NOTCH3):c.740A>G (p.Asn247Ser)
|
|
|
NM_000435.3(NOTCH3):c.770C>T (p.Thr257Ile)
|
|
|
NM_000435.3(NOTCH3):c.976G>A (p.Gly326Arg)
|
|
|
NM_000441.2(SLC26A4):c.475G>A (p.Glu159Lys)
|
rs1562823659
|
|
NM_000441.2(SLC26A4):c.859G>C (p.Glu287Gln)
|
rs1584317605
|
|
NM_000444.6(PHEX):c.1091_1099dup (p.Leu366_Val367insAspTyrLeu)
|
rs1930962739
|
|
NM_000444.6(PHEX):c.1768+5G>A
|
rs1057524608
|
|
NM_000444.6(PHEX):c.1960T>A (p.Phe654Ile)
|
rs1935508894
|
|
NM_000444.6(PHEX):c.437-3C>G
|
rs1602274684
|
|
NM_000445.5(PLEC):c.128G>T (p.Gly43Val)
|
rs781980239
|
|
NM_000447.3(PSEN2):c.1139C>T (p.Thr380Met)
|
rs143912759
|
|
NM_000447.3(PSEN2):c.1197G>T (p.Leu399Phe)
|
|
|
NM_000447.3(PSEN2):c.31del (p.Glu11fs)
|
rs2102667828
|
|
NM_000447.3(PSEN2):c.937G>A (p.Gly313Ser)
|
rs756225509
|
|
NM_000451.4(SHOX):c.*14C>G
|
|
|
NM_000451.4(SHOX):c.*18del
|
rs1363317245
|
|
NM_000451.4(SHOX):c.100A>T (p.Thr34Ser)
|
|
|
NM_000451.4(SHOX):c.261C>T (p.Thr87=)
|
rs368925113
|
|
NM_000451.4(SHOX):c.277+20G>C
|
|
|
NM_000451.4(SHOX):c.342G>A (p.Lys114=)
|
rs1215651574
|
|
NM_000451.4(SHOX):c.361C>G (p.Arg121Gly)
|
rs2052711755
|
|
NM_000451.4(SHOX):c.364A>C (p.Thr122Pro)
|
rs2124165681
|
|
NM_000451.4(SHOX):c.374C>T (p.Thr125Met)
|
rs2052712054
|
|
NM_000451.4(SHOX):c.37G>A (p.Asp13Asn)
|
rs1469223043
|
|
NM_000451.4(SHOX):c.399G>C (p.Glu133Asp)
|
rs1603285352
|
|
NM_000451.4(SHOX):c.402A>G (p.Arg134=)
|
rs2052712822
|
|
NM_000451.4(SHOX):c.403C>G (p.Leu135Val)
|
rs1603285354
|
|
NM_000451.4(SHOX):c.439C>A (p.Arg147Ser)
|
rs2124165990
|
|
NM_000451.4(SHOX):c.617G>A (p.Arg206Gln)
|
|
|
NM_000451.4(SHOX):c.66AGGCGG[1] (p.Gly27_Gly28del)
|
rs747349135
|
|
NM_000451.4(SHOX):c.721T>C (p.Phe241Leu)
|
rs752020837
|
|
NM_000451.4(SHOX):c.74G>A (p.Gly25Asp)
|
|
|
NM_000451.4(SHOX):c.82G>C (p.Gly28Arg)
|
rs1170526645
|
|
NM_000451.4(SHOX):c.88A>G (p.Lys30Glu)
|
|
|
NM_000454.5(SOD1):c.268G>A (p.Ala90Thr)
|
rs1568810660
|
|
NM_000454.5(SOD1):c.325G>C (p.Gly109Arg)
|
rs1568810758
|
|
NM_000454.5(SOD1):c.357+3A>G
|
|
|
NM_000454.5(SOD1):c.374A>C (p.Asp125Ala)
|
rs1568811366
|
|
NM_000454.5(SOD1):c.401A>C (p.Glu134Ala)
|
|
|
NM_000454.5(SOD1):c.412A>G (p.Thr138Ala)
|
rs1568811445
|
|
NM_000454.5(SOD1):c.422C>G (p.Ala141Gly)
|
rs1555836937
|
|
NM_000454.5(SOD1):c.83_88del (p.Gly28_Pro29del)
|
rs2049569360
|
|
NM_000458.4(HNF1B):c.-8C>G
|
|
|
NM_000458.4(HNF1B):c.1206+42_1206+46del
|
rs142240844
|
|
NM_000458.4(HNF1B):c.127C>G (p.Leu43Val)
|
|
|
NM_000458.4(HNF1B):c.135G>A (p.Thr45=)
|
rs2034121058
|
|
NM_000458.4(HNF1B):c.374T>A (p.Ile125Asn)
|
rs2147575564
|
|
NM_000458.4(HNF1B):c.473C>A (p.Thr158Asn)
|
rs1568670646
|
|
NM_000458.4(HNF1B):c.578T>C (p.Met193Thr)
|
rs760079000
|
|
NM_000458.4(HNF1B):c.703C>T (p.Arg235Trp)
|
|
|
NM_000458.4(HNF1B):c.704G>A (p.Arg235Gln)
|
|
|
NM_000458.4(HNF1B):c.738G>T (p.Leu246Phe)
|
rs775562256
|
|
NM_000458.4(HNF1B):c.78G>T (p.Leu26=)
|
|
|
NM_000466.3(PEX1):c.1141G>C (p.Ala381Pro)
|
|
|
NM_000466.3(PEX1):c.3050T>C (p.Leu1017Ser)
|
|
|
NM_000466.3(PEX1):c.547C>G (p.Arg183Gly)
|
rs149806989
|
|
NM_000478.6(ALPL):c.335_340dup (p.Gly112_Thr113dup)
|
rs931041761
|
|
NM_000478.6(ALPL):c.643A>G (p.Ile215Val)
|
|
|
NM_000484.4(APP):c.*6C>T
|
|
|
NM_000484.4(APP):c.1253G>C (p.Arg418Pro)
|
rs200487832
|
|
NM_000484.4(APP):c.1457G>A (p.Arg486Gln)
|
rs200268317
|
|
NM_000484.4(APP):c.1886T>C (p.Val629Ala)
|
rs1555893907
|
|
NM_000484.4(APP):c.2005G>A (p.Val669Met)
|
|
|
NM_000484.4(APP):c.2222_2224del (p.Ala741del)
|
rs759157514
|
|
NM_000484.4(APP):c.347G>A (p.Arg116His)
|
rs2061787725
|
|
NM_000484.4(APP):c.807C>T (p.Thr269=)
|
rs1568868266
|
|
NM_000484.4(APP):c.819CAC[6] (p.Thr280del)
|
|
|
NM_000489.6(ATRX):c.4347_4358del (p.Glu1461_Glu1464del)
|
rs1557117424
|
|
NM_000489.6(ATRX):c.6618A>G (p.Glu2206=)
|
rs2064850147
|
|
NM_000497.4(CYP11B1):c.1328T>C (p.Phe443Ser)
|
rs1563867943
|
|
NM_000497.4(CYP11B1):c.1398+5G>C
|
rs1563867837
|
|
NM_000497.4(CYP11B1):c.1460T>C (p.Phe487Ser)
|
rs1563867512
|
|
NM_000497.4(CYP11B1):c.240-18_240-17delinsAA
|
rs1586561494
|
|
NM_000497.4(CYP11B1):c.357C>T (p.Tyr119=)
|
rs1563870868
|
|
NM_000497.4(CYP11B1):c.465G>C (p.Gln155His)
|
rs1026054479
|
|
NM_000497.4(CYP11B1):c.899C>G (p.Ser300Trp)
|
rs202091168
|
|
NM_000500.9(CYP21A2):c.1132G>A (p.Asp378Asn)
|
|
|
NM_000500.9(CYP21A2):c.1208A>G (p.His403Arg)
|
|
|
NM_000500.9(CYP21A2):c.1343_1360del (p.Gln448_Leu453del)
|
rs1562764272
|
|
NM_000500.9(CYP21A2):c.292+10G>A
|
|
|
NM_000500.9(CYP21A2):c.489G>A (p.Glu163=)
|
rs1776090800
|
|
NM_000500.9(CYP21A2):c.493T>G (p.Phe165Val)
|
|
|
NM_000500.9(CYP21A2):c.94C>T (p.Pro32Ser)
|
|
|
NM_000525.4(KCNJ11):c.174C>G (p.Asp58Glu)
|
rs1237212288
|
|
NM_000525.4(KCNJ11):c.245G>A (p.Ser82Asn)
|
rs1564865688
|
|
NM_000525.4(KCNJ11):c.346T>C (p.Ser116Pro)
|
rs1953587696
|
|
NM_000525.4(KCNJ11):c.406C>A (p.Arg136Ser)
|
rs766891274
|
|
NM_000525.4(KCNJ11):c.541C>T (p.Leu181Phe)
|
rs1564865434
|
|
NM_000525.4(KCNJ11):c.989A>T (p.Tyr330Phe)
|
rs193929356
|
|
NM_000530.8(MPZ):c.223G>T (p.Asp75Tyr)
|
rs2102259788
|
|
NM_000530.8(MPZ):c.293G>T (p.Arg98Leu)
|
rs121913589
|
|
NM_000530.8(MPZ):c.317G>C (p.Arg106Pro)
|
rs145039212
|
|
NM_000530.8(MPZ):c.349C>A (p.Leu117Ile)
|
|
|
NM_000530.8(MPZ):c.362A>C (p.Asp121Ala)
|
rs1571818953
|
|
NM_000530.8(MPZ):c.388A>G (p.Lys130Glu)
|
|
|
NM_000530.8(MPZ):c.585-7_585-5del
|
rs770501358
|
|
NM_000530.8(MPZ):c.646-3C>A
|
rs750756212
|
|
NM_000530.8(MPZ):c.68-3C>A
|
rs1182729605
|
|
NM_000533.5(PLP1):c.251C>T (p.Ala84Val)
|
|
|
NM_000533.5(PLP1):c.254T>A (p.Leu85His)
|
rs2074498206
|
|
NM_000540.3(RYR1):c.10619A>G (p.Tyr3540Cys)
|
rs752477271
|
|
NM_000540.3(RYR1):c.12599A>G (p.Asn4200Ser)
|
rs199660276
|
|
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His)
|
rs150396398
|
|
NM_000540.3(RYR1):c.14749T>C (p.Phe4917Leu)
|
rs1599674419
|
|
NM_000540.3(RYR1):c.1983G>T (p.Trp661Cys)
|
rs1305971341
|
|
NM_000540.3(RYR1):c.2049G>T (p.Val683=)
|
rs1967521130
|
|
NM_000540.3(RYR1):c.2087G>T (p.Gly696Val)
|
|
|
NM_000540.3(RYR1):c.3494G>A (p.Gly1165Asp)
|
rs559581937
|
|
NM_000540.3(RYR1):c.6707T>G (p.Leu2236Arg)
|
rs1969830618
|
|
NM_000540.3(RYR1):c.7936A>G (p.Asn2646Asp)
|
rs746174410
|
|
NM_000540.3(RYR1):c.9250G>A (p.Gly3084Ser)
|
|
|
NM_000545.8(HNF1A):c.1108G>T (p.Val370Phe)
|
rs2135845768
|
|
NM_000545.8(HNF1A):c.1124G>A (p.Gly375Asp)
|
|
|
NM_000545.8(HNF1A):c.1126C>T (p.Pro376Ser)
|
|
|
NM_000545.8(HNF1A):c.1197G>C (p.Gln399His)
|
|
|
NM_000545.8(HNF1A):c.1424C>T (p.Pro475Leu)
|
rs193922580
|
|
NM_000545.8(HNF1A):c.1502-19CT[2]
|
rs753496283
|
|
NM_000545.8(HNF1A):c.1576G>T (p.Asp526Tyr)
|
|
|
NM_000545.8(HNF1A):c.1594G>A (p.Ala532Thr)
|
rs1421619915
|
|
NM_000545.8(HNF1A):c.17G>T (p.Ser6Ile)
|
rs2135819354
|
|
NM_000545.8(HNF1A):c.1854C>G (p.Ile618Met)
|
rs193922591
|
|
NM_000545.8(HNF1A):c.26A>G (p.Gln9Arg)
|
rs1876081310
|
|
NM_000545.8(HNF1A):c.367C>G (p.Leu123Val)
|
rs1876669134
|
|
NM_000545.8(HNF1A):c.401_406dup (p.Asp135_Thr136insIleAsp)
|
rs2135832623
|
|
NM_000545.8(HNF1A):c.461T>G (p.Met154Arg)
|
|
|
NM_000545.8(HNF1A):c.494G>T (p.Trp165Leu)
|
|
|
NM_000545.8(HNF1A):c.507G>A (p.Lys169=)
|
|
|
NM_000545.8(HNF1A):c.512G>A (p.Arg171Gln)
|
|
|
NM_000545.8(HNF1A):c.526+5_526+8del
|
rs2135833007
|
|
NM_000545.8(HNF1A):c.608G>T (p.Arg203Leu)
|
rs587780357
|
|
NM_000545.8(HNF1A):c.716C>A (p.Ala239Glu)
|
rs587778397
|
|
NM_000545.8(HNF1A):c.734G>T (p.Gly245Val)
|
rs193922603
|
|
NM_000545.8(HNF1A):c.794A>C (p.Tyr265Ser)
|
rs1555212006
|
|
NM_000545.8(HNF1A):c.944G>A (p.Ser315Asn)
|
rs1298749678
|
|
NM_000548.5(TSC2):c.1385G>A (p.Arg462His)
|
rs45494392
|
|
NM_000548.5(TSC2):c.1724_1735del (p.Leu575_Leu578del)
|
rs1596336046
|
|
NM_000548.5(TSC2):c.1865G>C (p.Arg622Pro)
|
rs45517206
|
|
NM_000548.5(TSC2):c.1883G>C (p.Arg628Pro)
|
rs774895427
|
|
NM_000548.5(TSC2):c.2099A>G (p.Glu700Gly)
|
|
|
NM_000548.5(TSC2):c.2122C>A (p.Leu708Met)
|
rs778040604
|
|
NM_000548.5(TSC2):c.2152C>A (p.Arg718Ser)
|
rs182538665
|
|
NM_000548.5(TSC2):c.2375T>C (p.Leu792Pro)
|
rs137854241
|
|
NM_000548.5(TSC2):c.2529_2537del (p.Glu845_Leu847del)
|
rs1567476034
|
|
NM_000548.5(TSC2):c.2837+10G>T
|
rs1232454175
|
|
NM_000548.5(TSC2):c.3124C>A (p.Pro1042Thr)
|
|
|
NM_000548.5(TSC2):c.3284G>T (p.Ser1095Ile)
|
rs1555510754
|
|
NM_000548.5(TSC2):c.4016T>A (p.Val1339Asp)
|
|
|
NM_000548.5(TSC2):c.4087G>A (p.Val1363Ile)
|
rs751203255
|
|
NM_000548.5(TSC2):c.4364G>C (p.Gly1455Ala)
|
rs1567524174
|
|
NM_000548.5(TSC2):c.4733T>G (p.Leu1578Arg)
|
rs45517367
|
|
NM_000551.4(VHL):c.335A>G (p.Tyr112Cys)
|
rs869025633
|
|
NM_000601.6(HGF):c.1295C>T (p.Ala432Val)
|
rs1228451958
|
|
NM_000702.4(ATP1A2):c.2126T>C (p.Val709Ala)
|
rs1651906904
|
|
NM_000702.4(ATP1A2):c.2142C>G (p.Asp714Glu)
|
rs139022921
|
|
NM_000702.4(ATP1A2):c.2262C>T (p.Ser754=)
|
rs1651911111
|
|
NM_000702.4(ATP1A2):c.2564-7C>T
|
rs1558009070
|
|
NM_000702.4(ATP1A2):c.2669G>A (p.Arg890Gln)
|
rs868485498
|
|
NM_000702.4(ATP1A2):c.2680G>T (p.Asp894Tyr)
|
rs1553245907
|
|
NM_000702.4(ATP1A2):c.2681A>G (p.Asp894Gly)
|
rs1570995422
|
|
NM_000702.4(ATP1A2):c.3020G>C (p.Arg1007Pro)
|
rs754878991
|
|
NM_000702.4(ATP1A2):c.643T>C (p.Ser215Pro)
|
rs1651545217
|
|
NM_000702.4(ATP1A2):c.659C>T (p.Ser220Leu)
|
|
|
NM_000702.4(ATP1A2):c.841C>T (p.Pro281Ser)
|
rs751809252
|
|
NM_000726.5(CACNB4):c.1021-14TCT[2]
|
|
|
NM_000726.5(CACNB4):c.1030C>T (p.Arg344Trp)
|
|
|
NM_000726.5(CACNB4):c.138C>T (p.Ile46=)
|
|
|
NM_000726.5(CACNB4):c.1460T>C (p.Leu487Pro)
|
rs775008250
|
|
NM_000726.5(CACNB4):c.148-90290T>G
|
|
|
NM_000726.5(CACNB4):c.148-90331T>G
|
rs2099873223
|
|
NM_000726.5(CACNB4):c.356C>T (p.Ser119Phe)
|
rs1367982719
|
|
NM_000726.5(CACNB4):c.391-1G>A
|
|
|
NM_000726.5(CACNB4):c.468A>C (p.Arg156Ser)
|
|
|
NM_000726.5(CACNB4):c.619-9C>T
|
rs2151408626
|
|
NM_000726.5(CACNB4):c.64-244_64-241del
|
rs1579294876
|
|
NM_000726.5(CACNB4):c.969A>G (p.Ile323Met)
|
|
|
NM_000742.4(CHRNA2):c.121del (p.Leu41fs)
|
rs796052310
|
|
NM_000742.4(CHRNA2):c.1362G>A (p.Leu454=)
|
|
|
NM_000744.7(CHRNA4):c.98G>C (p.Arg33Pro)
|
rs201575409
|
|
NM_000748.3(CHRNB2):c.360CAA[1] (p.Asn122del)
|
rs796052329
|
|
NM_000751.3(CHRND):c.389A>T (p.Asn130Ile)
|
rs1553574327
|
|
NM_000751.3(CHRND):c.739C>T (p.Leu247Phe)
|
|
|
NM_000784.4(CYP27A1):c.139G>A (p.Gly47Arg)
|
|
|
NM_000784.4(CYP27A1):c.491G>C (p.Arg164Pro)
|
rs148417330
|
|
NM_000814.6(GABRB3):c.418A>G (p.Met140Val)
|
rs1555371848
|
|
NM_000815.5(GABRD):c.1214G>C (p.Gly405Ala)
|
rs766337060
|
|
NM_000815.5(GABRD):c.259A>G (p.Met87Val)
|
rs1399325636
|
|
NM_000815.5(GABRD):c.475A>T (p.Thr159Ser)
|
rs1557446811
|
|
NM_001001331.4(ATP2B2):c.2107G>T (p.Val703Leu)
|
rs2060810402
|
|
NM_001001331.4(ATP2B2):c.2174T>A (p.Ile725Asn)
|
rs1574980625
|
|
NM_001003800.2(BICD2):c.1428T>G (p.Ala476=)
|
|
|
NM_001003800.2(BICD2):c.2420G>A (p.Arg807Gln)
|
rs1564057942
|
|
NM_001005361.3(DNM2):c.1147G>T (p.Asp383Tyr)
|
rs1568305190
|
|
NM_001005361.3(DNM2):c.1370A>G (p.Glu457Gly)
|
rs1555711301
|
|
NM_001005361.3(DNM2):c.1426C>A (p.Leu476Ile)
|
rs1568309121
|
|
NM_001005361.3(DNM2):c.1598T>C (p.Leu533Pro)
|
rs2072578169
|
|
NM_001005361.3(DNM2):c.1747A>G (p.Lys583Glu)
|
rs1568318798
|
|
NM_001005361.3(DNM2):c.2057A>G (p.Asn686Ser)
|
rs2073102227
|
|
NM_001005361.3(DNM2):c.210T>C (p.Ile70=)
|
rs878854149
|
|
NM_001005361.3(DNM2):c.2183C>T (p.Ala728Val)
|
rs2073249015
|
|
NM_001005361.3(DNM2):c.2246C>A (p.Pro749His)
|
rs765111629
|
|
NM_001005361.3(DNM2):c.2248C>A (p.Pro750Thr)
|
rs1173091380
|
|
NM_001005361.3(DNM2):c.2292-7C>T
|
rs2073285852
|
|
NM_001005361.3(DNM2):c.2399C>T (p.Ala800Val)
|
|
|
NM_001005361.3(DNM2):c.2465G>A (p.Ser822Asn)
|
rs1301279979
|
|
NM_001005361.3(DNM2):c.646G>T (p.Ala216Ser)
|
rs2071182880
|
|
NM_001005361.3(DNM2):c.778C>G (p.Leu260Val)
|
rs145607989
|
|
NM_001008212.2(OPTN):c.1388T>C (p.Ile463Thr)
|
|
|
NM_001009944.3(PKD1):c.1015_1073delinsGT (p.Leu339_Ala358delinsVal)
|
|
|
NM_001009944.3(PKD1):c.10574G>T (p.Gly3525Val)
|
rs114523369
|
|
NM_001009944.3(PKD1):c.10960C>G (p.Leu3654Val)
|
|
|
NM_001009944.3(PKD1):c.11258G>C (p.Arg3753Pro)
|
rs1555446330
|
|
NM_001009944.3(PKD1):c.11340_11345del (p.Tyr3781_Asp3782del)
|
rs2091618795
|
|
NM_001009944.3(PKD1):c.11355G>T (p.Trp3785Cys)
|
rs2091617906
|
|
NM_001009944.3(PKD1):c.11412-3C>G
|
rs1567153315
|
|
NM_001009944.3(PKD1):c.11496C>G (p.Asp3832Glu)
|
|
|
NM_001009944.3(PKD1):c.11762C>G (p.Thr3921Ser)
|
rs762372063
|
|
NM_001009944.3(PKD1):c.1202-3C>A
|
|
|
NM_001009944.3(PKD1):c.12095G>T (p.Gly4032Val)
|
rs142768096
|
|
NM_001009944.3(PKD1):c.12391_12393del (p.Glu4131del)
|
rs1555444468
|
|
NM_001009944.3(PKD1):c.12492C>T (p.Arg4164=)
|
rs536381522
|
|
NM_001009944.3(PKD1):c.1256_1258del (p.Cys419del)
|
|
|
NM_001009944.3(PKD1):c.1265TGG[2] (p.Val424del)
|
rs1596588396
|
|
NM_001009944.3(PKD1):c.12709T>C (p.Tyr4237His)
|
rs2091392697
|
|
NM_001009944.3(PKD1):c.12888C>G (p.Asn4296Lys)
|
rs777990224
|
|
NM_001009944.3(PKD1):c.1591G>A (p.Glu531Lys)
|
rs1567215326
|
|
NM_001009944.3(PKD1):c.1617G>C (p.Gln539His)
|
rs1382845038
|
|
NM_001009944.3(PKD1):c.1744C>T (p.Arg582Cys)
|
|
|
NM_001009944.3(PKD1):c.1758A>C (p.Glu586Asp)
|
|
|
NM_001009944.3(PKD1):c.1823A>G (p.Gln608Arg)
|
rs1596582588
|
|
NM_001009944.3(PKD1):c.1831C>T (p.Arg611Trp)
|
rs1555458413
|
|
NM_001009944.3(PKD1):c.1894A>G (p.Asn632Asp)
|
rs763213387
|
|
NM_001009944.3(PKD1):c.2032G>A (p.Ala678Thr)
|
|
|
NM_001009944.3(PKD1):c.2109C>A (p.His703Gln)
|
rs527655141
|
|
NM_001009944.3(PKD1):c.2110G>A (p.Gly704Ser)
|
|
|
NM_001009944.3(PKD1):c.2180T>A (p.Leu727Gln)
|
rs1616940
|
|
NM_001009944.3(PKD1):c.2180T>G (p.Leu727Arg)
|
rs1616940
|
|
NM_001009944.3(PKD1):c.287+4A>C
|
|
|
NM_001009944.3(PKD1):c.2879G>A (p.Gly960Asp)
|
rs1567208088
|
|
NM_001009944.3(PKD1):c.2911G>A (p.Asp971Asn)
|
|
|
NM_001009944.3(PKD1):c.3022_3039del (p.Asn1008_Val1013del)
|
rs1567207029
|
|
NM_001009944.3(PKD1):c.3564C>T (p.His1188=)
|
rs1047922967
|
|
NM_001009944.3(PKD1):c.3685G>A (p.Val1229Met)
|
|
|
NM_001009944.3(PKD1):c.3836C>G (p.Pro1279Arg)
|
rs1596561655
|
|
NM_001009944.3(PKD1):c.38T>C (p.Leu13Pro)
|
rs2092941758
|
|
NM_001009944.3(PKD1):c.405G>T (p.Trp135Cys)
|
rs2092679535
|
|
NM_001009944.3(PKD1):c.4072G>C (p.Ala1358Pro)
|
rs1567201469
|
|
NM_001009944.3(PKD1):c.4141G>A (p.Gly1381Ser)
|
|
|
NM_001009944.3(PKD1):c.4346ACA[1] (p.Asn1450del)
|
rs2092482302
|
|
NM_001009944.3(PKD1):c.4379T>C (p.Val1460Ala)
|
|
|
NM_001009944.3(PKD1):c.4729G>A (p.Asp1577Asn)
|
rs770989260
|
|
NM_001009944.3(PKD1):c.5036G>A (p.Ser1679Asn)
|
rs756419129
|
|
NM_001009944.3(PKD1):c.5294C>T (p.Pro1765Leu)
|
rs577487876
|
|
NM_001009944.3(PKD1):c.5372A>C (p.Asn1791Thr)
|
rs1335408319
|
|
NM_001009944.3(PKD1):c.5976_5978del (p.Phe1992_Thr1993delinsLeu)
|
rs2092438025
|
|
NM_001009944.3(PKD1):c.6011_6016dup (p.Tyr2004_Ala2005dup)
|
rs2092436949
|
|
NM_001009944.3(PKD1):c.6277C>A (p.His2093Asn)
|
|
|
NM_001009944.3(PKD1):c.6287T>C (p.Phe2096Ser)
|
rs1596552090
|
|
NM_001009944.3(PKD1):c.6498C>T (p.Arg2166=)
|
|
|
NM_001009944.3(PKD1):c.6599G>A (p.Arg2200His)
|
|
|
NM_001009944.3(PKD1):c.662T>C (p.Leu221Pro)
|
rs1567218310
|
|
NM_001009944.3(PKD1):c.6656C>T (p.Pro2219Leu)
|
rs1567191874
|
|
NM_001009944.3(PKD1):c.667G>C (p.Ala223Pro)
|
|
|
NM_001009944.3(PKD1):c.6683A>G (p.Tyr2228Cys)
|
rs1596550613
|
|
NM_001009944.3(PKD1):c.6827T>C (p.Leu2276Pro)
|
rs1567191044
|
|
NM_001009944.3(PKD1):c.689G>C (p.Cys230Ser)
|
rs1255640370
|
|
NM_001009944.3(PKD1):c.701C>T (p.Ala234Val)
|
|
|
NM_001009944.3(PKD1):c.7141G>A (p.Val2381Met)
|
rs2092356831
|
|
NM_001009944.3(PKD1):c.7170G>A (p.Glu2390=)
|
rs1567187083
|
|
NM_001009944.3(PKD1):c.7209+5G>A
|
rs1596543034
|
|
NM_001009944.3(PKD1):c.7213T>C (p.Trp2405Arg)
|
|
|
NM_001009944.3(PKD1):c.723_725del (p.Phe242del)
|
|
|
NM_001009944.3(PKD1):c.7367AGG[2] (p.Glu2458del)
|
rs1391744174
|
|
NM_001009944.3(PKD1):c.7525_7539dup (p.Val2509_Leu2513dup)
|
rs2092331813
|
|
NM_001009944.3(PKD1):c.7544G>C (p.Arg2515Pro)
|
rs2432404
|
|
NM_001009944.3(PKD1):c.7625G>A (p.Gly2542Asp)
|
|
|
NM_001009944.3(PKD1):c.7655C>G (p.Ala2552Gly)
|
rs1596539967
|
|
NM_001009944.3(PKD1):c.7702A>G (p.Arg2568Gly)
|
rs2092327341
|
|
NM_001009944.3(PKD1):c.7949T>G (p.Leu2650Arg)
|
rs2092302943
|
|
NM_001009944.3(PKD1):c.8666_8674del (p.Ser2889_Ala2891del)
|
rs771434359
|
|
NM_001009944.3(PKD1):c.8672CCAACTCCG[3] (p.2891ANS[3])
|
rs763199524
|
|
NM_001009944.3(PKD1):c.8830G>T (p.Val2944Phe)
|
rs1555450761
|
|
NM_001009944.3(PKD1):c.9011T>C (p.Leu3004Pro)
|
rs2151750242
|
|
NM_001009944.3(PKD1):c.910C>G (p.Arg304Gly)
|
rs543328728
|
|
NM_001009944.3(PKD1):c.9412G>T (p.Val3138Leu)
|
rs1358566538
|
|
NM_001009944.3(PKD1):c.9485G>T (p.Arg3162Leu)
|
rs1189208643
|
|
NM_001009944.3(PKD1):c.9521A>C (p.His3174Pro)
|
rs769045618
|
|
NM_001009944.3(PKD1):c.9889G>A (p.Val3297Met)
|
rs775497330
|
|
NM_001009944.3(PKD1):c.9910G>A (p.Asp3304Asn)
|
|
|
NM_001015877.2(PHF6):c.1045A>G (p.Lys349Glu)
|
|
|
NM_001029896.2(WDR45):c.436G>A (p.Gly146Arg)
|
rs1569523500
|
|
NM_001029896.2(WDR45):c.694C>T (p.Arg232Cys)
|
rs1602537958
|
|
NM_001032221.6(STXBP1):c.193A>G (p.Arg65Gly)
|
rs1564348737
|
|
NM_001038603.3(MARVELD2):c.54A>T (p.Pro18=)
|
rs1766529188
|
|
NM_001040142.2(SCN2A):c.1385C>T (p.Ala462Val)
|
rs769825203
|
|
NM_001040142.2(SCN2A):c.2033C>T (p.Thr678Ile)
|
rs1446046264
|
|
NM_001040142.2(SCN2A):c.2351C>T (p.Thr784Met)
|
rs758872788
|
|
NM_001040142.2(SCN2A):c.23C>A (p.Pro8Gln)
|
rs747139785
|
|
NM_001040142.2(SCN2A):c.4534C>T (p.Pro1512Ser)
|
rs1558879940
|
|
NM_001040142.2(SCN2A):c.4992C>T (p.Gly1664=)
|
rs1411813809
|
|
NM_001040142.2(SCN2A):c.5623C>T (p.Leu1875Phe)
|
rs1553463764
|
|
NM_001040142.2(SCN2A):c.580T>C (p.Leu194=)
|
rs1015952309
|
|
NM_001040142.2(SCN2A):c.629T>G (p.Leu210Arg)
|
rs1559352517
|
|
NM_001042432.2(CLN3):c.1285C>T (p.Pro429Ser)
|
rs1433950864
|
|
NM_001042492.3(NF1):c.1722-24A>G
|
rs1567845793
|
|
NM_001042492.3(NF1):c.179C>G (p.Thr60Ser)
|
rs1007047958
|
|
NM_001042492.3(NF1):c.1919C>A (p.Thr640Asn)
|
|
|
NM_001042492.3(NF1):c.2116G>C (p.Ala706Pro)
|
|
|
NM_001042492.3(NF1):c.269T>G (p.Leu90Arg)
|
rs1555605393
|
|
NM_001042492.3(NF1):c.3317A>G (p.Tyr1106Cys)
|
rs1567850987
|
|
NM_001042492.3(NF1):c.3611G>A (p.Arg1204Gln)
|
rs1057521848
|
|
NM_001042492.3(NF1):c.4337T>C (p.Leu1446Pro)
|
rs199474733
|
|
NM_001042492.3(NF1):c.4430G>C (p.Arg1477Thr)
|
rs1060500293
|
|
NM_001042492.3(NF1):c.4831C>T (p.Arg1611Trp)
|
rs1060500316
|
|
NM_001042492.3(NF1):c.6006G>T (p.Gln2002His)
|
rs1555534432
|
|
NM_001042492.3(NF1):c.6147G>A (p.Lys2049=)
|
|
|
NM_001042492.3(NF1):c.7869+5G>C
|
rs1555536725
|
|
NM_001042492.3(NF1):c.913A>G (p.Lys305Glu)
|
rs1567835041
|
|
NM_001077365.2(POMT1):c.1190C>A (p.Ala397Asp)
|
rs1564364465
|
|
NM_001077365.2(POMT1):c.1315A>T (p.Ile439Phe)
|
|
|
NM_001077365.2(POMT1):c.178T>C (p.Phe60Leu)
|
rs1564332130
|
|
NM_001077365.2(POMT1):c.195GCC[1] (p.Pro67del)
|
|
|
NM_001077365.2(POMT1):c.2050T>C (p.Tyr684His)
|
rs113633543
|
|
NM_001077365.2(POMT1):c.539+3A>C
|
rs780457748
|
|
NM_001079872.2(CUL4B):c.1257-5T>C
|
rs1569390976
|
|
NM_001079872.2(CUL4B):c.288_303delinsT (p.Ile97_Leu101del)
|
rs996678112
|
|
NM_001079872.2(CUL4B):c.88A>G (p.Thr30Ala)
|
rs1569396573
|
|
NM_001083961.2(WDR62):c.1958+6G>C
|
rs1358241161
|
|
NM_001100.4(ACTA1):c.1061T>C (p.Phe354Ser)
|
|
|
NM_001101.5(ACTB):c.1043C>T (p.Ser348Leu)
|
rs886041309
|
|
NM_001110792.2(MECP2):c.1284G>C (p.Glu428Asp)
|
rs1603307532
|
|
NM_001110792.2(MECP2):c.1458T>C (p.Pro486=)
|
rs1557134910
|
|
NM_001112741.2(KCNC1):c.1384C>T (p.Arg462Trp)
|
rs1284178894
|
|
NM_001122752.2(SERPINI1):c.1139T>C (p.Ile380Thr)
|
rs1560020646
|
|
NM_001122955.4(BSCL2):c.1006-8C>T
|
rs1057521013
|
|
NM_001122955.4(BSCL2):c.1300T>G (p.Ser434Ala)
|
rs199584887
|
|
NM_001122955.4(BSCL2):c.419C>G (p.Ser140Cys)
|
rs1590881712
|
|
NM_001122955.4(BSCL2):c.422C>T (p.Ser141Phe)
|
rs1590881708
|
|
NM_001122955.4(BSCL2):c.631-6C>A
|
rs768294248
|
|
NM_001126108.2(SLC12A3):c.1625TCA[1] (p.Ile543del)
|
rs1567434967
|
|
NM_001126108.2(SLC12A3):c.1756_1776dup (p.Trp586_Ala592dup)
|
rs2144723364
|
|
NM_001126128.2(PROK2):c.57G>C (p.Leu19=)
|
|
|
NM_001127222.2(CACNA1A):c.1504T>C (p.Cys502Arg)
|
|
|
NM_001127222.2(CACNA1A):c.1534G>C (p.Glu512Gln)
|
rs375210532
|
|
NM_001127222.2(CACNA1A):c.1555+5G>A
|
|
|
NM_001127222.2(CACNA1A):c.1556A>C (p.Tyr519Ser)
|
|
|
NM_001127222.2(CACNA1A):c.1669G>T (p.Val557Phe)
|
rs1568519134
|
|
NM_001127222.2(CACNA1A):c.1763G>A (p.Arg588His)
|
|
|
NM_001127222.2(CACNA1A):c.18C>T (p.Asp6=)
|
|
|
NM_001127222.2(CACNA1A):c.1906G>C (p.Gly636Arg)
|
rs943419160
|
|
NM_001127222.2(CACNA1A):c.1931G>A (p.Gly644Glu)
|
|
|
NM_001127222.2(CACNA1A):c.1987-9C>A
|
rs747420630
|
|
NM_001127222.2(CACNA1A):c.2362G>A (p.Ala788Thr)
|
rs1568509752
|
|
NM_001127222.2(CACNA1A):c.2505C>T (p.Thr835=)
|
rs1246254915
|
|
NM_001127222.2(CACNA1A):c.2518_2529delinsCGG (p.Ala840_Pro843delinsArg)
|
rs2144956802
|
|
NM_001127222.2(CACNA1A):c.2611C>T (p.Pro871Ser)
|
rs780462531
|
|
NM_001127222.2(CACNA1A):c.2692G>C (p.Gly898Arg)
|
rs751726770
|
|
NM_001127222.2(CACNA1A):c.2726G>A (p.Ser909Asn)
|
rs1248444650
|
|
NM_001127222.2(CACNA1A):c.2857G>A (p.Gly953Arg)
|
rs1057518292
|
|
NM_001127222.2(CACNA1A):c.2931G>C (p.Ala977=)
|
|
|
NM_001127222.2(CACNA1A):c.2989G>A (p.Asp997Asn)
|
rs2057721376
|
|
NM_001127222.2(CACNA1A):c.3002G>T (p.Arg1001Leu)
|
rs1424294725
|
|
NM_001127222.2(CACNA1A):c.302A>C (p.Glu101Ala)
|
rs2060985088
|
|
NM_001127222.2(CACNA1A):c.3079C>T (p.Arg1027Trp)
|
|
|
NM_001127222.2(CACNA1A):c.3109G>A (p.Val1037Ile)
|
rs769061598
|
|
NM_001127222.2(CACNA1A):c.3190G>A (p.Asp1064Asn)
|
|
|
NM_001127222.2(CACNA1A):c.3302C>T (p.Thr1101Ile)
|
rs768567834
|
|
NM_001127222.2(CACNA1A):c.3410C>G (p.Pro1137Arg)
|
rs200333359
|
|
NM_001127222.2(CACNA1A):c.3469G>C (p.Ala1157Pro)
|
|
|
NM_001127222.2(CACNA1A):c.3532C>A (p.Leu1178Ile)
|
rs556266465
|
|
NM_001127222.2(CACNA1A):c.3532C>T (p.Leu1178Phe)
|
rs556266465
|
|
NM_001127222.2(CACNA1A):c.3535A>C (p.Asn1179His)
|
rs964526144
|
|
NM_001127222.2(CACNA1A):c.3553+5G>C
|
rs1600245165
|
|
NM_001127222.2(CACNA1A):c.3606GGA[3] (p.Glu1206del)
|
rs750826355
|
|
NM_001127222.2(CACNA1A):c.3848T>C (p.Phe1283Ser)
|
rs2057169274
|
|
NM_001127222.2(CACNA1A):c.3946G>A (p.Asp1316Asn)
|
rs1568485068
|
|
NM_001127222.2(CACNA1A):c.4028C>T (p.Ser1343Phe)
|
|
|
NM_001127222.2(CACNA1A):c.4228A>G (p.Lys1410Glu)
|
rs932772664
|
|
NM_001127222.2(CACNA1A):c.4250+4G>C
|
|
|
NM_001127222.2(CACNA1A):c.4250G>A (p.Arg1417Gln)
|
rs1568471977
|
|
NM_001127222.2(CACNA1A):c.4251-7G>A
|
rs761136437
|
|
NM_001127222.2(CACNA1A):c.4298G>A (p.Arg1433Gln)
|
rs2144758462
|
|
NM_001127222.2(CACNA1A):c.4448G>T (p.Arg1483Leu)
|
rs1271930393
|
|
NM_001127222.2(CACNA1A):c.4574G>A (p.Ser1525Asn)
|
rs2056600119
|
|
NM_001127222.2(CACNA1A):c.4867-7dup
|
rs2056196193
|
|
NM_001127222.2(CACNA1A):c.4874T>G (p.Phe1625Cys)
|
rs771061659
|
|
NM_001127222.2(CACNA1A):c.4950+3668C>T
|
|
|
NM_001127222.2(CACNA1A):c.4997G>A (p.Arg1666Gln)
|
rs1568447650
|
|
NM_001127222.2(CACNA1A):c.5053G>A (p.Val1685Met)
|
rs1442400930
|
|
NM_001127222.2(CACNA1A):c.5141G>A (p.Gly1714Asp)
|
|
|
NM_001127222.2(CACNA1A):c.5162A>G (p.Glu1721Gly)
|
rs1273682125
|
|
NM_001127222.2(CACNA1A):c.5165A>G (p.Asp1722Gly)
|
|
|
NM_001127222.2(CACNA1A):c.5209A>T (p.Asn1737Tyr)
|
rs2144646664
|
|
NM_001127222.2(CACNA1A):c.5249G>A (p.Arg1750Gln)
|
rs781588570
|
|
NM_001127222.2(CACNA1A):c.5401-9T>A
|
|
|
NM_001127222.2(CACNA1A):c.5464A>G (p.Ile1822Val)
|
rs1600127153
|
|
NM_001127222.2(CACNA1A):c.5530G>A (p.Gly1844Ser)
|
rs1568439088
|
|
NM_001127222.2(CACNA1A):c.5552T>C (p.Met1851Thr)
|
|
|
NM_001127222.2(CACNA1A):c.5761G>A (p.Glu1921Lys)
|
rs2144537759
|
|
NM_001127222.2(CACNA1A):c.5827A>G (p.Thr1943Ala)
|
rs2144537372
|
|
NM_001127222.2(CACNA1A):c.592C>G (p.Arg198Gly)
|
rs886042230
|
|
NM_001127222.2(CACNA1A):c.593G>A (p.Arg198Gln)
|
rs797045424
|
|
NM_001127222.2(CACNA1A):c.622G>A (p.Gly208Arg)
|
rs1568581246
|
|
NM_001127222.2(CACNA1A):c.631+4C>T
|
rs1568581241
|
|
NM_001127222.2(CACNA1A):c.631+5G>A
|
rs786200963
|
|
NM_001127222.2(CACNA1A):c.7061C>T (p.Pro2354Leu)
|
rs1421650967
|
|
NM_001127222.2(CACNA1A):c.7210C>G (p.Pro2404Ala)
|
|
|
NM_001127222.2(CACNA1A):c.7240G>A (p.Asp2414Asn)
|
rs1568416040
|
|
NM_001127222.2(CACNA1A):c.7282G>A (p.Glu2428Lys)
|
|
|
NM_001127222.2(CACNA1A):c.7318G>A (p.Val2440Ile)
|
|
|
NM_001127222.2(CACNA1A):c.7318_7332dup (p.Ser2444_Ser2445insValArgHisAlaSer)
|
|
|
NM_001127222.2(CACNA1A):c.7322G>A (p.Arg2441Gln)
|
|
|
NM_001127222.2(CACNA1A):c.7347G>A (p.Gly2449=)
|
|
|
NM_001127222.2(CACNA1A):c.7348C>T (p.Arg2450Cys)
|
rs1397153104
|
|
NM_001127222.2(CACNA1A):c.7433C>T (p.Pro2478Leu)
|
|
|
NM_001127222.2(CACNA1A):c.7436C>G (p.Ala2479Gly)
|
rs758817759
|
|
NM_001127222.2(CACNA1A):c.75G>T (p.Val25=)
|
|
|
NM_001127222.2(CACNA1A):c.811C>G (p.Pro271Ala)
|
|
|
NM_001127222.2(CACNA1A):c.832G>A (p.Ala278Thr)
|
rs1013100046
|
|
NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys)
|
rs1555773764
|
|
NM_001127222.2(CACNA1A):c.889G>A (p.Gly297Arg)
|
rs1168625480
|
|
NM_001127222.2(CACNA1A):c.901T>C (p.Phe301Leu)
|
rs1599276954
|
|
NM_001127222.2(CACNA1A):c.967CTC[1] (p.Leu324del)
|
|
|
NM_001127453.2(GSDME):c.1184-6C>T
|
|
|
NM_001128228.3(TPRN):c.1424T>C (p.Leu475Pro)
|
rs1588775926
|
|
NM_001130438.3(SPTAN1):c.2158C>A (p.His720Asn)
|
rs191761167
|
|
NM_001130438.3(SPTAN1):c.4829G>A (p.Arg1610Gln)
|
rs1564286745
|
|
NM_001130438.3(SPTAN1):c.7061A>C (p.Lys2354Thr)
|
rs768911375
|
|
NM_001130987.2(DYSF):c.128T>G (p.Val43Gly)
|
|
|
NM_001130987.2(DYSF):c.2615T>G (p.Val872Gly)
|
rs1574041904
|
|
NM_001130987.2(DYSF):c.2677C>A (p.Leu893Met)
|
|
|
NM_001130987.2(DYSF):c.3066C>G (p.Asn1022Lys)
|
|
|
NM_001130987.2(DYSF):c.3678C>G (p.Ile1226Met)
|
rs148858485
|
|
NM_001130987.2(DYSF):c.4238A>G (p.Glu1413Gly)
|
rs2093790724
|
|
NM_001130987.2(DYSF):c.4244A>C (p.Tyr1415Ser)
|
rs775254512
|
|
NM_001130987.2(DYSF):c.4810A>G (p.Arg1604Gly)
|
rs1558750109
|
|
NM_001130987.2(DYSF):c.5171G>C (p.Cys1724Ser)
|
|
|
NM_001130987.2(DYSF):c.889-7C>G
|
|
|
NM_001134407.3(GRIN2A):c.916A>T (p.Met306Leu)
|
rs778386295
|
|
NM_001136472.2(LITAF):c.377+9G>C
|
rs2141700636
|
|
NM_001146262.4(SYT14):c.1154_1155delinsTT (p.Tyr385Phe)
|
|
|
NM_001146262.4(SYT14):c.1444A>G (p.Met482Val)
|
|
|
NM_001146262.4(SYT14):c.1447G>A (p.Gly483Ser)
|
rs1572398156
|
|
NM_001146262.4(SYT14):c.1495_1500del (p.Asn499_Pro500del)
|
rs932441943
|
|
NM_001146262.4(SYT14):c.1649A>G (p.Glu550Gly)
|
rs2083362615
|
|
NM_001146262.4(SYT14):c.1655A>G (p.Asn552Ser)
|
|
|
NM_001146262.4(SYT14):c.198_203del (p.Ser66_Thr67del)
|
rs775846620
|
|
NM_001146262.4(SYT14):c.367T>C (p.Trp123Arg)
|
rs746405453
|
|
NM_001146262.4(SYT14):c.42A>G (p.Glu14=)
|
|
|
NM_001146262.4(SYT14):c.61+13142G>T
|
rs2079149912
|
|
NM_001146262.4(SYT14):c.774A>C (p.Glu258Asp)
|
|
|
NM_001159699.2(FHL1):c.*7_*8del
|
|
|
NM_001159699.2(FHL1):c.676G>A (p.Val226Met)
|
|
|
NM_001161352.2(KCNMA1):c.30_56del (p.Ser11_Gly19del)
|
rs1163075445
|
|
NM_001164508.2(NEB):c.18974A>G (p.Lys6325Arg)
|
|
|
NM_001164508.2(NEB):c.19904A>C (p.Asp6635Ala)
|
|
|
NM_001164508.2(NEB):c.21207+3A>G
|
|
|
NM_001164508.2(NEB):c.21392T>C (p.Leu7131Pro)
|
rs2092301005
|
|
NM_001164508.2(NEB):c.23172C>G (p.Gly7724=)
|
|
|
NM_001164508.2(NEB):c.8935A>G (p.Ile2979Val)
|
rs1250321534
|
|
NM_001165963.4(SCN1A):c.2111T>C (p.Leu704Pro)
|
rs1131691747
|
|
NM_001165963.4(SCN1A):c.2117A>T (p.Asp706Val)
|
rs1574209133
|
|
NM_001165963.4(SCN1A):c.2824C>T (p.Leu942=)
|
|
|
NM_001165963.4(SCN1A):c.4230T>G (p.Asn1410Lys)
|
rs1691043368
|
|
NM_001165963.4(SCN1A):c.4476G>C (p.Lys1492Asn)
|
|
|
NM_001165963.4(SCN1A):c.4487A>C (p.Gln1496Pro)
|
rs2105462677
|
|
NM_001165963.4(SCN1A):c.4821T>G (p.Phe1607Leu)
|
rs1241198360
|
|
NM_001165963.4(SCN1A):c.4952A>C (p.Lys1651Thr)
|
rs1553520446
|
|
NM_001165963.4(SCN1A):c.5117A>G (p.Asn1706Ser)
|
rs1553520340
|
|
NM_001165963.4(SCN1A):c.746A>T (p.Asp249Val)
|
rs762927460
|
|
NM_001166114.2(PNPLA6):c.1049C>T (p.Thr350Ile)
|
|
|
NM_001166114.2(PNPLA6):c.1054A>C (p.Thr352Pro)
|
rs751885710
|
|
NM_001166114.2(PNPLA6):c.1060C>T (p.Pro354Ser)
|
rs1309856946
|
|
NM_001166114.2(PNPLA6):c.1469G>A (p.Arg490His)
|
|
|
NM_001166114.2(PNPLA6):c.3598C>T (p.Arg1200Trp)
|
rs754590075
|
|
NM_001166114.2(PNPLA6):c.3627C>G (p.Ser1209=)
|
rs1568423844
|
|
NM_001166114.2(PNPLA6):c.3697T>C (p.Tyr1233His)
|
|
|
NM_001166114.2(PNPLA6):c.3782G>A (p.Arg1261Gln)
|
rs1354670102
|
|
NM_001166114.2(PNPLA6):c.619C>G (p.Leu207Val)
|
rs751202036
|
|
NM_001166114.2(PNPLA6):c.795+8A>G
|
|
|
NM_001178015.2(SLC4A10):c.882G>A (p.Gly294=)
|
|
|
NM_001182.5(ALDH7A1):c.267A>G (p.Glu89=)
|
rs1561672574
|
|
NM_001184880.2(PCDH19):c.1018A>C (p.Asn340His)
|
|
|
NM_001184880.2(PCDH19):c.470A>C (p.Asp157Ala)
|
rs1569315869
|
|
NM_001184880.2(PCDH19):c.661A>G (p.Thr221Ala)
|
|
|
NM_001195248.2(APTX):c.1003C>T (p.His335Tyr)
|
rs1828537508
|
|
NM_001195248.2(APTX):c.491T>C (p.Leu164Pro)
|
rs1367238962
|
|
NM_001195248.2(APTX):c.719G>T (p.Gly240Val)
|
|
|
NM_001195248.2(APTX):c.779A>G (p.His260Arg)
|
rs1324748344
|
|
NM_001195248.2(APTX):c.873A>G (p.Gln291=)
|
|
|
NM_001199107.2(TBC1D24):c.1606del (p.Gln536fs)
|
rs1567414972
|
|
NM_001199107.2(TBC1D24):c.554_559del (p.Asp185_Leu186del)
|
rs1215641557
|
|
NM_001242896.3(DEPDC5):c.3799G>A (p.Asp1267Asn)
|
rs1340279120
|
|
NM_001244008.2(KIF1A):c.1022C>T (p.Thr341Ile)
|
|
|
NM_001244008.2(KIF1A):c.1768+4T>C
|
rs780489790
|
|
NM_001244008.2(KIF1A):c.1898G>A (p.Arg633His)
|
rs1553633823
|
|
NM_001244008.2(KIF1A):c.1A>G (p.Met1Val)
|
rs1559538947
|
|
NM_001244008.2(KIF1A):c.220T>A (p.Tyr74Asn)
|
rs2126092196
|
|
NM_001244008.2(KIF1A):c.2748G>T (p.Glu916Asp)
|
|
|
NM_001244008.2(KIF1A):c.2750_2751insTGAGGAGGAGGA (p.Glu916_Glu917insAspGluGluGlu)
|
rs878988727
|
|
NM_001244008.2(KIF1A):c.3221T>G (p.Leu1074Arg)
|
|
|
NM_001244008.2(KIF1A):c.3223C>T (p.Leu1075Phe)
|
|
|
NM_001244008.2(KIF1A):c.3263T>C (p.Leu1088Pro)
|
|
|
NM_001244008.2(KIF1A):c.3886C>G (p.Arg1296Gly)
|
rs201684653
|
|
NM_001244008.2(KIF1A):c.4694A>G (p.Asn1565Ser)
|
rs755380517
|
|
NM_001244008.2(KIF1A):c.5350AGG[1] (p.Arg1785del)
|
rs760590728
|
|
NM_001256545.2(MEGF10):c.227A>G (p.Tyr76Cys)
|
rs1362646575
|
|
NM_001267550.2(TTN):c.10018A>G (p.Met3340Val)
|
|
|
NM_001267550.2(TTN):c.100397G>A (p.Arg33466His)
|
rs189626540
|
|
NM_001267550.2(TTN):c.101242A>C (p.Thr33748Pro)
|
rs1575292990
|
|
NM_001267550.2(TTN):c.101291C>T (p.Ala33764Val)
|
rs773542514
|
|
NM_001267550.2(TTN):c.101567A>T (p.Asp33856Val)
|
rs1690813389
|
|
NM_001267550.2(TTN):c.102287C>A (p.Thr34096Asn)
|
rs375002174
|
|
NM_001267550.2(TTN):c.103628C>T (p.Pro34543Leu)
|
rs1575257488
|
|
NM_001267550.2(TTN):c.103795A>G (p.Arg34599Gly)
|
|
|
NM_001267550.2(TTN):c.104498C>T (p.Ala34833Val)
|
rs1164350939
|
|
NM_001267550.2(TTN):c.10564G>A (p.Ala3522Thr)
|
rs794729587
|
|
NM_001267550.2(TTN):c.105865A>G (p.Thr35289Ala)
|
|
|
NM_001267550.2(TTN):c.106895G>A (p.Gly35632Asp)
|
rs1210557316
|
|
NM_001267550.2(TTN):c.107365_107371delinsA (p.Leu35789_Val35791delinsIle)
|
|
|
NM_001267550.2(TTN):c.107456A>G (p.Gln35819Arg)
|
|
|
NM_001267550.2(TTN):c.10772G>A (p.Ser3591Asn)
|
rs1561088135
|
|
NM_001267550.2(TTN):c.11584C>T (p.Pro3862Ser)
|
rs375406698
|
|
NM_001267550.2(TTN):c.13721A>T (p.Glu4574Val)
|
rs1212225396
|
|
NM_001267550.2(TTN):c.13888A>G (p.Thr4630Ala)
|
rs1560892224
|
|
NM_001267550.2(TTN):c.14366T>A (p.Val4789Glu)
|
rs1560878359
|
|
NM_001267550.2(TTN):c.14792G>A (p.Gly4931Glu)
|
rs1204206553
|
|
NM_001267550.2(TTN):c.15823G>A (p.Gly5275Arg)
|
rs1019067272
|
|
NM_001267550.2(TTN):c.15899C>T (p.Pro5300Leu)
|
rs1248409979
|
|
NM_001267550.2(TTN):c.16886G>A (p.Ser5629Asn)
|
rs758096327
|
|
NM_001267550.2(TTN):c.17420A>G (p.Asp5807Gly)
|
rs1167663430
|
|
NM_001267550.2(TTN):c.17551G>A (p.Glu5851Lys)
|
|
|
NM_001267550.2(TTN):c.17882C>T (p.Ala5961Val)
|
rs909915866
|
|
NM_001267550.2(TTN):c.19403G>A (p.Cys6468Tyr)
|
|
|
NM_001267550.2(TTN):c.19967C>G (p.Ser6656Cys)
|
rs761716450
|
|
NM_001267550.2(TTN):c.20852T>A (p.Val6951Asp)
|
rs1578062152
|
|
NM_001267550.2(TTN):c.21155A>G (p.Asn7052Ser)
|
rs1553913467
|
|
NM_001267550.2(TTN):c.21575C>T (p.Ala7192Val)
|
rs1560705548
|
|
NM_001267550.2(TTN):c.21576A>G (p.Ala7192=)
|
|
|
NM_001267550.2(TTN):c.22240+5T>C
|
|
|
NM_001267550.2(TTN):c.22497_22498insTCAGCATCCAACCCACTTGGAACAACA (p.Thr7499_Ala7500insSerAlaSerAsnProLeuGlyThrThr)
|
rs763282322
|
|
NM_001267550.2(TTN):c.23103dup (p.Pro7702fs)
|
|
|
NM_001267550.2(TTN):c.23377+2T>C
|
rs2154300619
|
|
NM_001267550.2(TTN):c.24383T>C (p.Leu8128Pro)
|
|
|
NM_001267550.2(TTN):c.25271A>G (p.Gln8424Arg)
|
|
|
NM_001267550.2(TTN):c.26287G>A (p.Glu8763Lys)
|
|
|
NM_001267550.2(TTN):c.26656G>A (p.Gly8886Ser)
|
rs72648991
|
|
NM_001267550.2(TTN):c.26949A>T (p.Leu8983Phe)
|
rs878969676
|
|
NM_001267550.2(TTN):c.28165A>G (p.Ile9389Val)
|
rs1577825049
|
|
NM_001267550.2(TTN):c.29208G>C (p.Trp9736Cys)
|
rs1560531040
|
|
NM_001267550.2(TTN):c.31402C>T (p.Gln10468Ter)
|
|
|
NM_001267550.2(TTN):c.31762+5_31762+7del
|
rs397517538
|
|
NM_001267550.2(TTN):c.32291C>G (p.Ala10764Gly)
|
rs1212672815
|
|
NM_001267550.2(TTN):c.3252del (p.Phe1084fs)
|
rs2092854679
|
|
NM_001267550.2(TTN):c.32653A>G (p.Met10885Val)
|
rs200732179
|
|
NM_001267550.2(TTN):c.32750C>A (p.Pro10917Gln)
|
rs73973137
|
|
NM_001267550.2(TTN):c.3287G>T (p.Gly1096Val)
|
rs2154349693
|
|
NM_001267550.2(TTN):c.33656C>T (p.Pro11219Leu)
|
rs757268986
|
|
NM_001267550.2(TTN):c.36406C>G (p.Pro12136Ala)
|
|
|
NM_001267550.2(TTN):c.36413C>A (p.Ala12138Asp)
|
|
|
NM_001267550.2(TTN):c.37474A>T (p.Lys12492Ter)
|
|
|
NM_001267550.2(TTN):c.37502C>T (p.Pro12501Leu)
|
rs1236045684
|
|
NM_001267550.2(TTN):c.38344G>A (p.Ala12782Thr)
|
|
|
NM_001267550.2(TTN):c.38660del (p.Lys12887fs)
|
rs761617432
|
|
NM_001267550.2(TTN):c.39290C>G (p.Pro13097Arg)
|
rs924318627
|
|
NM_001267550.2(TTN):c.39434C>T (p.Ala13145Val)
|
|
|
NM_001267550.2(TTN):c.39628C>T (p.Pro13210Ser)
|
|
|
NM_001267550.2(TTN):c.39956A>C (p.Glu13319Ala)
|
rs909744052
|
|
NM_001267550.2(TTN):c.403G>A (p.Val135Met)
|
|
|
NM_001267550.2(TTN):c.40558G>C (p.Val13520Leu)
|
rs587780488
|
|
NM_001267550.2(TTN):c.40559-8C>G
|
rs2061204822
|
|
NM_001267550.2(TTN):c.40927+1G>A
|
rs1553749862
|
|
NM_001267550.2(TTN):c.41002CCT[1] (p.Pro13669del)
|
rs747793660
|
|
NM_001267550.2(TTN):c.4126T>C (p.Ser1376Pro)
|
rs1060500425
|
|
NM_001267550.2(TTN):c.41341C>T (p.Arg13781Cys)
|
rs768469221
|
|
NM_001267550.2(TTN):c.42278A>G (p.Lys14093Arg)
|
rs1553743733
|
|
NM_001267550.2(TTN):c.42439C>T (p.Pro14147Ser)
|
rs1559970037
|
|
NM_001267550.2(TTN):c.43263G>A (p.Glu14421=)
|
|
|
NM_001267550.2(TTN):c.43433T>A (p.Met14478Lys)
|
rs1576690561
|
|
NM_001267550.2(TTN):c.4440T>G (p.Val1480=)
|
|
|
NM_001267550.2(TTN):c.46304+3A>T
|
rs866285912
|
|
NM_001267550.2(TTN):c.46406C>T (p.Ser15469Phe)
|
|
|
NM_001267550.2(TTN):c.46484C>A (p.Ala15495Asp)
|
rs376839162
|
|
NM_001267550.2(TTN):c.4770G>C (p.Leu1590Phe)
|
|
|
NM_001267550.2(TTN):c.47874T>C (p.Phe15958=)
|
|
|
NM_001267550.2(TTN):c.48161-4del
|
rs730880371
|
|
NM_001267550.2(TTN):c.48557G>T (p.Arg16186Leu)
|
rs769784536
|
|
NM_001267550.2(TTN):c.485T>G (p.Leu162Arg)
|
rs145438758
|
|
NM_001267550.2(TTN):c.48829G>A (p.Glu16277Lys)
|
|
|
NM_001267550.2(TTN):c.48921T>G (p.Ile16307Met)
|
rs755394057
|
|
NM_001267550.2(TTN):c.49598C>T (p.Pro16533Leu)
|
rs2056673499
|
|
NM_001267550.2(TTN):c.49638G>A (p.Lys16546=)
|
|
|
NM_001267550.2(TTN):c.51419T>C (p.Ile17140Thr)
|
|
|
NM_001267550.2(TTN):c.51944T>C (p.Val17315Ala)
|
|
|
NM_001267550.2(TTN):c.52160T>A (p.Leu17387His)
|
rs2154197942
|
|
NM_001267550.2(TTN):c.53122_53123delinsGT (p.Lys17708Val)
|
rs886042743
|
|
NM_001267550.2(TTN):c.53287+9T>A
|
|
|
NM_001267550.2(TTN):c.53348T>C (p.Leu17783Pro)
|
rs777712545
|
|
NM_001267550.2(TTN):c.53593T>A (p.Ser17865Thr)
|
|
|
NM_001267550.2(TTN):c.53594C>T (p.Ser17865Phe)
|
rs753095229
|
|
NM_001267550.2(TTN):c.55123G>A (p.Glu18375Lys)
|
|
|
NM_001267550.2(TTN):c.5713T>C (p.Tyr1905His)
|
rs1477069650
|
|
NM_001267550.2(TTN):c.57506C>T (p.Ala19169Val)
|
|
|
NM_001267550.2(TTN):c.58352G>A (p.Arg19451His)
|
|
|
NM_001267550.2(TTN):c.59546A>G (p.His19849Arg)
|
rs1576123979
|
|
NM_001267550.2(TTN):c.60007C>G (p.Arg20003Gly)
|
rs1039014549
|
|
NM_001267550.2(TTN):c.60316C>A (p.Pro20106Thr)
|
rs1576103220
|
|
NM_001267550.2(TTN):c.60413T>A (p.Ile20138Asn)
|
|
|
NM_001267550.2(TTN):c.61649C>T (p.Ser20550Leu)
|
|
|
NM_001267550.2(TTN):c.62756T>C (p.Leu20919Ser)
|
|
|
NM_001267550.2(TTN):c.6368G>A (p.Arg2123Gln)
|
rs530807674
|
|
NM_001267550.2(TTN):c.64522G>A (p.Val21508Ile)
|
|
|
NM_001267550.2(TTN):c.65093G>A (p.Arg21698His)
|
rs371581072
|
|
NM_001267550.2(TTN):c.6609C>G (p.Val2203=)
|
rs2092059385
|
|
NM_001267550.2(TTN):c.66488C>T (p.Pro22163Leu)
|
rs752183879
|
|
NM_001267550.2(TTN):c.67565G>C (p.Arg22522Thr)
|
rs1221271318
|
|
NM_001267550.2(TTN):c.6938C>G (p.Thr2313Arg)
|
rs794729579
|
|
NM_001267550.2(TTN):c.70801T>C (p.Tyr23601His)
|
rs2154172198
|
|
NM_001267550.2(TTN):c.71698C>T (p.Arg23900Trp)
|
|
|
NM_001267550.2(TTN):c.75187G>C (p.Asp25063His)
|
rs1707970781
|
|
NM_001267550.2(TTN):c.75872T>C (p.Leu25291Pro)
|
rs1559388448
|
|
NM_001267550.2(TTN):c.77299T>A (p.Tyr25767Asn)
|
rs1303024823
|
|
NM_001267550.2(TTN):c.77302C>G (p.Leu25768Val)
|
rs541266544
|
|
NM_001267550.2(TTN):c.77515A>C (p.Lys25839Gln)
|
rs1371831965
|
|
NM_001267550.2(TTN):c.78283C>G (p.Pro26095Ala)
|
|
|
NM_001267550.2(TTN):c.78676G>C (p.Glu26226Gln)
|
rs754878387
|
|
NM_001267550.2(TTN):c.79579T>C (p.Cys26527Arg)
|
|
|
NM_001267550.2(TTN):c.80636A>C (p.Gln26879Pro)
|
|
|
NM_001267550.2(TTN):c.81210T>A (p.Phe27070Leu)
|
|
|
NM_001267550.2(TTN):c.82727A>G (p.Asn27576Ser)
|
rs773621324
|
|
NM_001267550.2(TTN):c.84105A>C (p.Leu28035Phe)
|
rs878854394
|
|
NM_001267550.2(TTN):c.84308A>T (p.His28103Leu)
|
rs1559302136
|
|
NM_001267550.2(TTN):c.84791T>C (p.Ile28264Thr)
|
rs1703588479
|
|
NM_001267550.2(TTN):c.85151G>A (p.Arg28384Gln)
|
|
|
NM_001267550.2(TTN):c.85810C>A (p.Pro28604Thr)
|
rs1208500218
|
|
NM_001267550.2(TTN):c.85985A>T (p.Asp28662Val)
|
rs1703115388
|
|
NM_001267550.2(TTN):c.87503G>T (p.Ser29168Ile)
|
|
|
NM_001267550.2(TTN):c.87785T>C (p.Val29262Ala)
|
rs1053653300
|
|
NM_001267550.2(TTN):c.8786T>G (p.Ile2929Arg)
|
rs757111808
|
|
NM_001267550.2(TTN):c.88009+4C>T
|
|
|
NM_001267550.2(TTN):c.88889C>A (p.Ala29630Glu)
|
|
|
NM_001267550.2(TTN):c.90049G>A (p.Glu30017Lys)
|
rs1559211738
|
|
NM_001267550.2(TTN):c.90287A>T (p.Gln30096Leu)
|
|
|
NM_001267550.2(TTN):c.90535C>G (p.Arg30179Gly)
|
rs769360937
|
|
NM_001267550.2(TTN):c.90586A>G (p.Lys30196Glu)
|
|
|
NM_001267550.2(TTN):c.91702G>A (p.Glu30568Lys)
|
|
|
NM_001267550.2(TTN):c.9187C>T (p.His3063Tyr)
|
|
|
NM_001267550.2(TTN):c.94322T>C (p.Ile31441Thr)
|
rs1388468468
|
|
NM_001267550.2(TTN):c.95716C>T (p.Pro31906Ser)
|
rs755949122
|
|
NM_001267550.2(TTN):c.96082G>A (p.Ala32028Thr)
|
|
|
NM_001267550.2(TTN):c.97492+3_97492+6dup
|
rs755299669
|
|
NM_001267550.2(TTN):c.9769C>T (p.Arg3257Cys)
|
rs374521620
|
|
NM_001267550.2(TTN):c.98171_98174dup (p.Ile32726fs)
|
rs1275153634
|
|
NM_001267550.2(TTN):c.9832C>G (p.Leu3278Val)
|
rs2090037981
|
|
NM_001267550.2(TTN):c.98758C>T (p.Arg32920Trp)
|
rs755031142
|
|
NM_001267550.2(TTN):c.98994del (p.Lys32998fs)
|
rs727504535
|
|
NM_001267550.2(TTN):c.99683T>A (p.Met33228Lys)
|
|
|
NM_001267550.2(TTN):c.99966G>T (p.Trp33322Cys)
|
rs775769503
|
|
NM_001271.4(CHD2):c.1590C>T (p.His530=)
|
|
|
NM_001271.4(CHD2):c.4891C>T (p.His1631Tyr)
|
rs774401500
|
|
NM_001278064.2(GRM1):c.1137C>T (p.Arg379=)
|
rs1783517255
|
|
NM_001278064.2(GRM1):c.1156G>C (p.Glu386Gln)
|
|
|
NM_001278064.2(GRM1):c.1201G>A (p.Glu401Lys)
|
|
|
NM_001278064.2(GRM1):c.1524T>G (p.Asp508Glu)
|
rs368772965
|
|
NM_001278064.2(GRM1):c.1723C>G (p.Leu575Val)
|
rs1193170688
|
|
NM_001278064.2(GRM1):c.2000C>T (p.Ser667Phe)
|
|
|
NM_001278064.2(GRM1):c.2252T>C (p.Leu751Pro)
|
|
|
NM_001278064.2(GRM1):c.2661-7270G>A
|
rs1778221372
|
|
NM_001278064.2(GRM1):c.2661-7293C>T
|
|
|
NM_001278064.2(GRM1):c.2860C>T (p.Leu954Phe)
|
rs1583494926
|
|
NM_001278064.2(GRM1):c.2944G>A (p.Val982Met)
|
rs867889855
|
|
NM_001278064.2(GRM1):c.2962A>G (p.Thr988Ala)
|
rs1583495145
|
|
NM_001278064.2(GRM1):c.3039G>T (p.Leu1013Phe)
|
|
|
NM_001278064.2(GRM1):c.3138G>A (p.Pro1046=)
|
|
|
NM_001278064.2(GRM1):c.3155T>A (p.Leu1052Gln)
|
rs1268764914
|
|
NM_001278064.2(GRM1):c.3178A>G (p.Asn1060Asp)
|
rs755308114
|
|
NM_001278064.2(GRM1):c.3181G>C (p.Gly1061Arg)
|
|
|
NM_001278064.2(GRM1):c.3194_3199dup (p.Leu1065_Tyr1066dup)
|
rs774663606
|
|
NM_001278064.2(GRM1):c.3202C>T (p.Pro1068Ser)
|
|
|
NM_001278064.2(GRM1):c.3207G>A (p.Pro1069=)
|
|
|
NM_001278064.2(GRM1):c.3212C>G (p.Pro1071Arg)
|
rs149072960
|
|
NM_001278064.2(GRM1):c.3245T>C (p.Leu1082Pro)
|
|
|
NM_001278064.2(GRM1):c.3283GAC[6] (p.Asp1099dup)
|
rs750936487
|
|
NM_001278064.2(GRM1):c.32C>G (p.Ala11Gly)
|
|
|
NM_001278064.2(GRM1):c.3341A>T (p.Glu1114Val)
|
|
|
NM_001278064.2(GRM1):c.3366C>A (p.Asp1122Glu)
|
|
|
NM_001278064.2(GRM1):c.3456C>T (p.Arg1152=)
|
|
|
NM_001278064.2(GRM1):c.3524C>T (p.Pro1175Leu)
|
|
|
NM_001278064.2(GRM1):c.457A>G (p.Lys153Glu)
|
|
|
NM_001278064.2(GRM1):c.829C>A (p.Leu277Ile)
|
rs1022097029
|
|
NM_001278064.2(GRM1):c.885A>C (p.Thr295=)
|
|
|
NM_001278116.2(L1CAM):c.124C>T (p.Pro42Ser)
|
|
|
NM_001278116.2(L1CAM):c.2739C>T (p.Thr913=)
|
|
|
NM_001278116.2(L1CAM):c.707T>C (p.Ile236Thr)
|
|
|
NM_001291415.2(KDM6A):c.3811T>C (p.Trp1271Arg)
|
rs2045816079
|
|
NM_001292063.2(OTOG):c.1042G>A (p.Ala348Thr)
|
rs191354103
|
|
NM_001292063.2(OTOG):c.4166C>T (p.Pro1389Leu)
|
|
|
NM_001293298.2(CEMIP):c.617G>A (p.Arg206Gln)
|
|
|
NM_001330260.2(SCN8A):c.4877G>T (p.Arg1626Leu)
|
rs886044328
|
|
NM_001347702.2(SYNE1):c.1456G>A (p.Glu486Lys)
|
|
|
NM_001347702.2(SYNE1):c.1505C>T (p.Thr502Ile)
|
|
|
NM_001353921.2(ARHGEF9):c.246G>T (p.Gly82=)
|
|
|
NM_001358921.2(COQ2):c.706C>T (p.Leu236Phe)
|
|
|
NM_001358921.2(COQ2):c.731C>T (p.Thr244Ile)
|
|
|
NM_001365536.1(SCN9A):c.131AAG[1] (p.Glu45del)
|
rs1198936365
|
|
NM_001365536.1(SCN9A):c.4399-10G>C
|
|
|
NM_001365999.1(SZT2):c.4187G>A (p.Ser1396Asn)
|
rs1557564323
|
|
NM_001365999.1(SZT2):c.7692_7694del (p.Val2565del)
|
rs1557591600
|
|
NM_001365999.1(SZT2):c.8330G>C (p.Ser2777Thr)
|
rs1570720687
|
|
NM_001365999.1(SZT2):c.9439A>G (p.Ser3147Gly)
|
rs754468503
|
|
NM_001367561.1(DOCK7):c.868G>A (p.Val290Ile)
|
rs1329011971
|
|
NM_001367721.1(CASK):c.1669-7C>G
|
rs780719523
|
|
NM_001370259.2(MEN1):c.586G>T (p.Val196Phe)
|
|
|
NM_001370298.3(FGD4):c.1008G>C (p.Met336Ile)
|
rs1592295526
|
|
NM_001370298.3(FGD4):c.2450C>T (p.Pro817Leu)
|
|
|
NM_001370298.3(FGD4):c.376C>A (p.Pro126Thr)
|
rs199744649
|
|
NM_001371279.1(REEP1):c.106-4A>G
|
rs1677011138
|
|
NM_001371279.1(REEP1):c.116T>G (p.Met39Arg)
|
rs1574052888
|
|
NM_001371279.1(REEP1):c.136G>A (p.Ala46Thr)
|
rs1558898635
|
|
NM_001371279.1(REEP1):c.499C>T (p.Pro167Ser)
|
rs896864468
|
|
NM_001371279.1(REEP1):c.786_787insAA (p.Pro263fs)
|
|
|
NM_001371596.2(MFSD8):c.1403G>A (p.Gly468Glu)
|
rs1560715852
|
|
NM_001371727.1(GABRB2):c.448T>C (p.Tyr150His)
|
rs1561657900
|
|
NM_001376.5(DYNC1H1):c.10078A>G (p.Ser3360Gly)
|
|
|
NM_001376.5(DYNC1H1):c.11894C>T (p.Ser3965Phe)
|
rs1595630803
|
|
NM_001376.5(DYNC1H1):c.1626C>T (p.Gly542=)
|
rs1566998995
|
|
NM_001376.5(DYNC1H1):c.5049+8T>C
|
rs2141288581
|
|
NM_001376.5(DYNC1H1):c.6847G>A (p.Val2283Met)
|
rs374569905
|
|
NM_001376.5(DYNC1H1):c.7409C>T (p.Ala2470Val)
|
rs774419538
|
|
NM_001376.5(DYNC1H1):c.8055+6T>A
|
rs766505305
|
|
NM_001377265.1(MAPT):c.2090G>T (p.Ser697Ile)
|
rs63751165
|
|
NM_001378120.1(MBD5):c.1680G>T (p.Met560Ile)
|
rs1574460777
|
|
NM_001378120.1(MBD5):c.4073C>T (p.Ala1358Val)
|
|
|
NM_001378452.1(ITPR1):c.*7G>T
|
|
|
NM_001378452.1(ITPR1):c.1548C>G (p.Leu516=)
|
|
|
NM_001378452.1(ITPR1):c.1614G>A (p.Leu538=)
|
rs1297659569
|
|
NM_001378452.1(ITPR1):c.1639G>T (p.Ala547Ser)
|
|
|
NM_001378452.1(ITPR1):c.1808G>A (p.Arg603Gln)
|
|
|
NM_001378452.1(ITPR1):c.1813C>A (p.Leu605Ile)
|
|
|
NM_001378452.1(ITPR1):c.182G>C (p.Cys61Ser)
|
rs1559566851
|
|
NM_001378452.1(ITPR1):c.1886+7C>G
|
|
|
NM_001378452.1(ITPR1):c.2111G>A (p.Ser704Asn)
|
rs373694009
|
|
NM_001378452.1(ITPR1):c.2174A>C (p.Lys725Thr)
|
rs797045632
|
|
NM_001378452.1(ITPR1):c.2315A>G (p.Glu772Gly)
|
rs997975841
|
|
NM_001378452.1(ITPR1):c.2683A>G (p.Ile895Val)
|
rs750473506
|
|
NM_001378452.1(ITPR1):c.2903C>T (p.Ala968Val)
|
|
|
NM_001378452.1(ITPR1):c.303G>C (p.Lys101Asn)
|
|
|
NM_001378452.1(ITPR1):c.3115G>C (p.Asp1039His)
|
rs771308450
|
|
NM_001378452.1(ITPR1):c.3283C>T (p.Arg1095Trp)
|
rs752791333
|
|
NM_001378452.1(ITPR1):c.3318C>G (p.Ala1106=)
|
rs2094337722
|
|
NM_001378452.1(ITPR1):c.3437G>A (p.Gly1146Glu)
|
|
|
NM_001378452.1(ITPR1):c.366+6T>A
|
rs1559591437
|
|
NM_001378452.1(ITPR1):c.3872T>G (p.Phe1291Cys)
|
rs1574879586
|
|
NM_001378452.1(ITPR1):c.4157A>T (p.His1386Leu)
|
rs1172066127
|
|
NM_001378452.1(ITPR1):c.4351T>C (p.Tyr1451His)
|
|
|
NM_001378452.1(ITPR1):c.4377G>T (p.Leu1459Phe)
|
rs566552796
|
|
NM_001378452.1(ITPR1):c.4538C>G (p.Thr1513Ser)
|
|
|
NM_001378452.1(ITPR1):c.458A>G (p.Glu153Gly)
|
rs1414031340
|
|
NM_001378452.1(ITPR1):c.4606C>T (p.Pro1536Ser)
|
|
|
NM_001378452.1(ITPR1):c.4633T>A (p.Cys1545Ser)
|
rs1559731146
|
|
NM_001378452.1(ITPR1):c.4696A>G (p.Ser1566Gly)
|
rs2125272782
|
|
NM_001378452.1(ITPR1):c.4759C>T (p.Arg1587Trp)
|
|
|
NM_001378452.1(ITPR1):c.5087G>A (p.Arg1696Lys)
|
|
|
NM_001378452.1(ITPR1):c.5104-5T>G
|
rs775238471
|
|
NM_001378452.1(ITPR1):c.5113A>G (p.Ile1705Val)
|
|
|
NM_001378452.1(ITPR1):c.5143C>T (p.Pro1715Ser)
|
|
|
NM_001378452.1(ITPR1):c.515T>C (p.Ile172Thr)
|
|
|
NM_001378452.1(ITPR1):c.5194C>A (p.Leu1732Met)
|
rs370179124
|
|
NM_001378452.1(ITPR1):c.5267T>C (p.Val1756Ala)
|
|
|
NM_001378452.1(ITPR1):c.5354-10A>G
|
|
|
NM_001378452.1(ITPR1):c.5407G>A (p.Val1803Ile)
|
rs1575064573
|
|
NM_001378452.1(ITPR1):c.5572G>A (p.Asp1858Asn)
|
|
|
NM_001378452.1(ITPR1):c.5735C>T (p.Pro1912Leu)
|
|
|
NM_001378452.1(ITPR1):c.5770C>T (p.Leu1924Phe)
|
rs2125376319
|
|
NM_001378452.1(ITPR1):c.5780C>T (p.Ala1927Val)
|
|
|
NM_001378452.1(ITPR1):c.5836G>A (p.Asp1946Asn)
|
|
|
NM_001378452.1(ITPR1):c.5840A>C (p.His1947Pro)
|
rs763857989
|
|
NM_001378452.1(ITPR1):c.5859C>T (p.Gly1953=)
|
|
|
NM_001378452.1(ITPR1):c.5874C>A (p.Ala1958=)
|
|
|
NM_001378452.1(ITPR1):c.5890G>A (p.Asp1964Asn)
|
|
|
NM_001378452.1(ITPR1):c.6112G>A (p.Val2038Ile)
|
|
|
NM_001378452.1(ITPR1):c.6274C>T (p.Leu2092Phe)
|
rs2125389919
|
|
NM_001378452.1(ITPR1):c.6558C>T (p.Gly2186=)
|
rs1256884190
|
|
NM_001378452.1(ITPR1):c.6933A>G (p.Gly2311=)
|
rs2125423186
|
|
NM_001378452.1(ITPR1):c.6935C>A (p.Thr2312Asn)
|
|
|
NM_001378452.1(ITPR1):c.7042A>G (p.Thr2348Ala)
|
rs753499808
|
|
NM_001378452.1(ITPR1):c.7515T>G (p.Cys2505Trp)
|
|
|
NM_001378452.1(ITPR1):c.7562-10G>A
|
|
|
NM_001378452.1(ITPR1):c.7648G>A (p.Gly2550Arg)
|
rs1553757628
|
|
NM_001378452.1(ITPR1):c.7826A>C (p.Gln2609Pro)
|
|
|
NM_001378452.1(ITPR1):c.8239C>T (p.Pro2747Ser)
|
|
|
NM_001378452.1(ITPR1):c.893A>T (p.Tyr298Phe)
|
|
|
NM_001378454.1(ALMS1):c.7507G>T (p.Ala2503Ser)
|
rs202060439
|
|
NM_001378778.1(MPDZ):c.635C>T (p.Ala212Val)
|
|
|
NM_001378969.1(KCND3):c.-1C>T
|
rs2102000644
|
|
NM_001378969.1(KCND3):c.1027G>A (p.Glu343Lys)
|
rs1557767012
|
|
NM_001378969.1(KCND3):c.1051T>C (p.Phe351Leu)
|
rs1064794895
|
|
NM_001378969.1(KCND3):c.1109A>G (p.Tyr370Cys)
|
|
|
NM_001378969.1(KCND3):c.1387G>A (p.Glu463Lys)
|
rs1571626257
|
|
NM_001378969.1(KCND3):c.1411C>T (p.Leu471Phe)
|
rs1064796735
|
|
NM_001378969.1(KCND3):c.1549G>C (p.Glu517Gln)
|
rs202110939
|
|
NM_001378969.1(KCND3):c.1588T>A (p.Ser530Thr)
|
|
|
NM_001378969.1(KCND3):c.1696C>T (p.Arg566Cys)
|
|
|
NM_001378969.1(KCND3):c.1888C>T (p.Arg630Trp)
|
|
|
NM_001378969.1(KCND3):c.1920G>A (p.Thr640=)
|
|
|
NM_001378969.1(KCND3):c.356C>A (p.Ala119Asp)
|
rs2101998598
|
|
NM_001378969.1(KCND3):c.407A>G (p.Tyr136Cys)
|
rs1675000214
|
|
NM_001378969.1(KCND3):c.431C>T (p.Ala144Val)
|
|
|
NM_001378969.1(KCND3):c.433G>A (p.Glu145Lys)
|
rs1557768261
|
|
NM_001378969.1(KCND3):c.44C>T (p.Ala15Val)
|
rs866544148
|
|
NM_001378969.1(KCND3):c.91C>T (p.Pro31Ser)
|
rs1403997481
|
|
NM_001378969.1(KCND3):c.980C>T (p.Ser327Phe)
|
|
|
NM_001379110.1(SLC9A6):c.*5_*8delinsTT
|
rs797044655
|
|
NM_001379110.1(SLC9A6):c.1599A>T (p.Glu533Asp)
|
rs781949645
|
|
NM_001379110.1(SLC9A6):c.908G>T (p.Arg303Leu)
|
rs782263851
|
|
NM_001379200.1(TBX1):c.1037-7_1037-6del
|
rs1037168604
|
|
NM_001379200.1(TBX1):c.1484C>A (p.Pro495Gln)
|
rs762076391
|
|
NM_001384474.1(LOXHD1):c.2557C>T (p.Arg853Cys)
|
rs202178613
|
|
NM_001384474.1(LOXHD1):c.3287_3295del (p.Thr1096_Asn1098del)
|
rs1488153218
|
|
NM_001384474.1(LOXHD1):c.4760G>C (p.Ser1587Thr)
|
rs1318916998
|
|
NM_001386393.1(PANK2):c.176_177delinsCT (p.Ser59Thr)
|
rs1568550594
|
|
NM_001540.5(HSPB1):c.149G>T (p.Ser50Ile)
|
rs1404212306
|
|
NM_001540.5(HSPB1):c.19C>G (p.Pro7Ala)
|
|
|
NM_001540.5(HSPB1):c.20C>T (p.Pro7Leu)
|
rs1405359814
|
|
NM_001540.5(HSPB1):c.248_249delinsAT (p.Ser83Asn)
|
rs1563651975
|
|
NM_001540.5(HSPB1):c.438dup (p.Gly147fs)
|
rs747325717
|
|
NM_001540.5(HSPB1):c.460T>G (p.Ser154Ala)
|
rs1158758405
|
|
NM_001540.5(HSPB1):c.496G>C (p.Glu166Gln)
|
rs1803069432
|
|
NM_001540.5(HSPB1):c.529A>T (p.Asn177Tyr)
|
|
|
NM_001614.5(ACTG1):c.1036C>G (p.Leu346Val)
|
rs782217473
|
|
NM_001626.6(AKT2):c.1052A>G (p.Tyr351Cys)
|
|
|
NM_001844.5(COL2A1):c.631C>T (p.Pro211Ser)
|
rs1565693325
|
|
NM_001845.6(COL4A1):c.347C>T (p.Pro116Leu)
|
rs538816765
|
|
NM_001845.6(COL4A1):c.4151-10T>C
|
|
|
NM_001845.6(COL4A1):c.4757A>T (p.His1586Leu)
|
rs1566332829
|
|
NM_001848.3(COL6A1):c.97+6T>G
|
rs1569517559
|
|
NM_001854.4(COL11A1):c.4313G>C (p.Gly1438Ala)
|
|
|
NM_001927.4(DES):c.602A>G (p.Lys201Arg)
|
|
|
NM_001927.4(DES):c.821T>G (p.Leu274Arg)
|
rs267607494
|
|
NM_001927.4(DES):c.999C>T (p.Cys333=)
|
rs1157722667
|
|
NM_001961.4(EEF2):c.-7C>G
|
rs779721890
|
|
NM_001961.4(EEF2):c.1011+5G>A
|
|
|
NM_001961.4(EEF2):c.1011+6G>T
|
|
|
NM_001961.4(EEF2):c.1107C>T (p.Cys369=)
|
|
|
NM_001961.4(EEF2):c.1110G>T (p.Glu370Asp)
|
|
|
NM_001961.4(EEF2):c.1150G>T (p.Gly384Cys)
|
rs1439827287
|
|
NM_001961.4(EEF2):c.1251C>A (p.Phe417Leu)
|
rs777339030
|
|
NM_001961.4(EEF2):c.1870G>A (p.Ala624Thr)
|
|
|
NM_001961.4(EEF2):c.1992C>A (p.Asp664Glu)
|
|
|
NM_001961.4(EEF2):c.219-10C>T
|
|
|
NM_001961.4(EEF2):c.2507C>T (p.Ala836Val)
|
|
|
NM_001961.4(EEF2):c.276C>T (p.Ser92=)
|
rs757363616
|
|
NM_001961.4(EEF2):c.318C>A (p.Pro106=)
|
|
|
NM_001961.4(EEF2):c.388G>A (p.Asp130Asn)
|
|
|
NM_001961.4(EEF2):c.4-3C>G
|
rs367708754
|
|
NM_001961.4(EEF2):c.709G>A (p.Ala237Thr)
|
|
|
NM_001961.4(EEF2):c.713C>T (p.Ala238Val)
|
|
|
NM_001961.4(EEF2):c.766A>G (p.Met256Val)
|
|
|
NM_001961.4(EEF2):c.787G>C (p.Asp263His)
|
rs1599196364
|
|
NM_001961.4(EEF2):c.874C>T (p.Leu292=)
|
|
|
NM_001961.4(EEF2):c.905A>T (p.Asp302Val)
|
rs1292653320
|
|
NM_002047.4(GARS1):c.104C>G (p.Ser35Cys)
|
rs770934994
|
|
NM_002047.4(GARS1):c.1162C>T (p.Arg388Trp)
|
rs759277467
|
|
NM_002047.4(GARS1):c.1171C>A (p.Arg391Ser)
|
rs370057212
|
|
NM_002047.4(GARS1):c.1171C>T (p.Arg391Cys)
|
rs370057212
|
|
NM_002047.4(GARS1):c.1812C>A (p.Phe604Leu)
|
|
|
NM_002047.4(GARS1):c.647A>G (p.His216Arg)
|
rs768987322
|
|
NM_002055.5(GFAP):c.209G>A (p.Arg70Gln)
|
rs267607510
|
|
NM_002055.5(GFAP):c.363_371dup (p.Arg124_Leu125insGluLeuArg)
|
|
|
NM_002055.5(GFAP):c.668A>T (p.Glu223Val)
|
rs1597861228
|
|
NM_002055.5(GFAP):c.847_849del (p.Asn283del)
|
rs2145634198
|
|
NM_002055.5(GFAP):c.906+9G>C
|
rs372000966
|
|
NM_002087.4(GRN):c.837G>A (p.Val279=)
|
|
|
NM_002144.4(HOXB1):c.871_872delinsAA (p.Ser291Asn)
|
rs1567932171
|
|
NM_002156.5(HSPD1):c.1701_1712del (p.565GGGM[1])
|
rs879486164
|
|
NM_002156.5(HSPD1):c.183A>G (p.Thr61=)
|
|
|
NM_002180.3(IGHMBP2):c.1235+10del
|
rs747881237
|
|
NM_002241.5(KCNJ10):c.771T>C (p.His257=)
|
rs775848365
|
|
NM_002292.4(LAMB2):c.3811G>A (p.Glu1271Lys)
|
rs1560071889
|
|
NM_002296.4(LBR):c.1291G>A (p.Val431Met)
|
rs1575221726
|
|
NM_002303.6(LEPR):c.2153A>G (p.Asn718Ser)
|
rs1424702726
|
|
NM_002303.6(LEPR):c.2390T>G (p.Ile797Ser)
|
rs1570831442
|
|
NM_002397.5(MEF2C):c.1360C>A (p.Pro454Thr)
|
|
|
NM_002473.6(MYH9):c.2000A>G (p.Asn667Ser)
|
rs575821361
|
|
NM_002529.4(NTRK1):c.2141G>A (p.Gly714Asp)
|
rs944740609
|
|
NM_002547.3(OPHN1):c.919C>T (p.Pro307Ser)
|
rs1569242767
|
|
NM_002693.2(POLG):c.125_139dup
|
rs780010436
|
|
NM_002693.3(POLG):c.1127T>C (p.Leu376Pro)
|
rs2055555493
|
|
NM_002693.3(POLG):c.1171-10C>G
|
rs1228287579
|
|
NM_002693.3(POLG):c.119GGC[4] (p.Arg42dup)
|
rs761080016
|
|
NM_002693.3(POLG):c.1429G>A (p.Glu477Lys)
|
rs1225242680
|
|
NM_002693.3(POLG):c.158_159delinsCT (p.Gln53Pro)
|
rs1064795981
|
|
NM_002693.3(POLG):c.158_166del (p.Gln53_Gln55del)
|
rs769735492
|
|
NM_002693.3(POLG):c.1659G>T (p.Lys553Asn)
|
rs2055522603
|
|
NM_002693.3(POLG):c.1682A>G (p.Lys561Arg)
|
rs1350960257
|
|
NM_002693.3(POLG):c.1784A>G (p.Gln595Arg)
|
rs1567190319
|
|
NM_002693.3(POLG):c.1950-10C>A
|
rs749522324
|
|
NM_002693.3(POLG):c.2265+1G>A
|
|
|
NM_002693.3(POLG):c.2287G>C (p.Gly763Arg)
|
rs1567187837
|
|
NM_002693.3(POLG):c.2318A>G (p.Lys773Arg)
|
rs1331031308
|
|
NM_002693.3(POLG):c.2481-6dup
|
|
|
NM_002693.3(POLG):c.2488G>A (p.Asp830Asn)
|
|
|
NM_002693.3(POLG):c.2539G>A (p.Ala847Thr)
|
rs750203541
|
|
NM_002693.3(POLG):c.2593G>T (p.Ala865Ser)
|
rs1596352780
|
|
NM_002693.3(POLG):c.2633T>C (p.Val878Ala)
|
|
|
NM_002693.3(POLG):c.2639C>A (p.Ala880Asp)
|
|
|
NM_002693.3(POLG):c.2644C>A (p.Pro882Thr)
|
rs1567186802
|
|
NM_002693.3(POLG):c.2743G>A (p.Ala915Thr)
|
|
|
NM_002693.3(POLG):c.283C>A (p.Pro95Thr)
|
|
|
NM_002693.3(POLG):c.2852A>G (p.Tyr951Cys)
|
|
|
NM_002693.3(POLG):c.3155G>A (p.Gly1052Asp)
|
rs769328030
|
|
NM_002693.3(POLG):c.3268G>A (p.Glu1090Lys)
|
rs759284625
|
|
NM_002693.3(POLG):c.3294T>G (p.Asn1098Lys)
|
rs374224714
|
|
NM_002693.3(POLG):c.3511A>C (p.Asn1171His)
|
rs1567184138
|
|
NM_002693.3(POLG):c.3553A>G (p.Ile1185Val)
|
rs2152056502
|
|
NM_002693.3(POLG):c.3554T>C (p.Ile1185Thr)
|
|
|
NM_002693.3(POLG):c.3662A>C (p.Tyr1221Ser)
|
rs1567183150
|
|
NM_002693.3(POLG):c.3683A>G (p.Lys1228Arg)
|
rs1596347221
|
|
NM_002693.3(POLG):c.406G>T (p.Asp136Tyr)
|
|
|
NM_002693.3(POLG):c.610G>T (p.Ala204Ser)
|
|
|
NM_002693.3(POLG):c.808A>G (p.Asn270Asp)
|
rs2055575084
|
|
NM_002693.3(POLG):c.844T>G (p.Tyr282Asp)
|
rs1290567099
|
|
NM_002693.3(POLG):c.856-17CTC[6]
|
rs200056162
|
|
NM_002693.3(POLG):c.970C>A (p.Pro324Thr)
|
rs2307437
|
|
NM_002693.3(POLG):c.970C>T (p.Pro324Ser)
|
rs2307437
|
|
NM_002739.5(PRKCG):c.1055G>A (p.Ser352Asn)
|
rs762206157
|
|
NM_002739.5(PRKCG):c.114C>T (p.Phe38=)
|
|
|
NM_002739.5(PRKCG):c.1195G>C (p.Glu399Gln)
|
rs2068734193
|
|
NM_002739.5(PRKCG):c.1225G>C (p.Gly409Arg)
|
rs1207949925
|
|
NM_002739.5(PRKCG):c.1290G>A (p.Leu430=)
|
|
|
NM_002739.5(PRKCG):c.1349G>A (p.Gly450Asp)
|
rs2123016083
|
|
NM_002739.5(PRKCG):c.143T>C (p.Phe48Ser)
|
|
|
NM_002739.5(PRKCG):c.1553C>T (p.Thr518Ile)
|
rs2068757477
|
|
NM_002739.5(PRKCG):c.1668T>G (p.Asp556Glu)
|
rs1599954407
|
|
NM_002739.5(PRKCG):c.1706A>G (p.Glu569Gly)
|
rs1461447265
|
|
NM_002739.5(PRKCG):c.1764+1G>A
|
rs1406338491
|
|
NM_002739.5(PRKCG):c.208_231del (p.Ser70_Cys77del)
|
rs1599938583
|
|
NM_002739.5(PRKCG):c.221A>G (p.His74Arg)
|
rs1568749767
|
|
NM_002739.5(PRKCG):c.229T>C (p.Cys77Arg)
|
rs386134160
|
|
NM_002739.5(PRKCG):c.230G>A (p.Cys77Tyr)
|
rs1599938631
|
|
NM_002739.5(PRKCG):c.254G>T (p.Cys85Phe)
|
rs1599938680
|
|
NM_002739.5(PRKCG):c.362T>C (p.Leu121Pro)
|
rs1568752907
|
|
NM_002739.5(PRKCG):c.362_379dup (p.Leu121_His126dup)
|
rs2068657289
|
|
NM_002739.5(PRKCG):c.367G>C (p.Gly123Arg)
|
rs386134164
|
|
NM_002739.5(PRKCG):c.382G>C (p.Gly128Arg)
|
rs1568752939
|
|
NM_002739.5(PRKCG):c.392G>A (p.Cys131Tyr)
|
rs386134167
|
|
NM_002739.5(PRKCG):c.425G>A (p.Cys142Tyr)
|
|
|
NM_002739.5(PRKCG):c.448T>C (p.Cys150Arg)
|
rs1599943341
|
|
NM_002739.5(PRKCG):c.466G>A (p.Glu156Lys)
|
rs1304701232
|
|
NM_002739.5(PRKCG):c.475G>A (p.Gly159Arg)
|
rs866406014
|
|
NM_002739.5(PRKCG):c.476G>A (p.Gly159Glu)
|
rs1599943390
|
|
NM_002739.5(PRKCG):c.479G>T (p.Arg160Leu)
|
rs1555807032
|
|
NM_002739.5(PRKCG):c.495C>G (p.Ile165Met)
|
rs1252158483
|
|
NM_002739.5(PRKCG):c.68G>A (p.Gly23Glu)
|
rs1599937005
|
|
NM_002739.5(PRKCG):c.707T>C (p.Val236Ala)
|
rs1599945617
|
|
NM_002739.5(PRKCG):c.70_72delinsCCT (p.Ala24Pro)
|
|
|
NM_002739.5(PRKCG):c.713G>A (p.Arg238His)
|
|
|
NM_002739.5(PRKCG):c.811G>A (p.Val271Met)
|
rs375466358
|
|
NM_002739.5(PRKCG):c.866C>T (p.Pro289Leu)
|
rs376704133
|
|
NM_002739.5(PRKCG):c.881A>T (p.Asp294Val)
|
|
|
NM_002739.5(PRKCG):c.8G>A (p.Gly3Asp)
|
|
|
NM_002739.5(PRKCG):c.99C>G (p.Val33=)
|
|
|
NM_002775.5(HTRA1):c.1048G>A (p.Gly350Arg)
|
rs2133450808
|
|
NM_002775.5(HTRA1):c.20C>G (p.Ala7Gly)
|
|
|
NM_002775.5(HTRA1):c.31CTG[7] (p.Leu16dup)
|
rs746547640
|
|
NM_002775.5(HTRA1):c.517G>T (p.Ala173Ser)
|
rs781563777
|
|
NM_002775.5(HTRA1):c.523G>A (p.Val175Met)
|
rs768665565
|
|
NM_002775.5(HTRA1):c.529_531del (p.Glu177del)
|
rs2097494420
|
|
NM_002775.5(HTRA1):c.884G>A (p.Gly295Glu)
|
rs769481765
|
|
NM_002775.5(HTRA1):c.8T>A (p.Ile3Asn)
|
|
|
NM_002775.5(HTRA1):c.940A>G (p.Met314Val)
|
|
|
NM_003000.3(SDHB):c.659T>C (p.Ile220Thr)
|
rs878854578
|
|
NM_003042.4(SLC6A1):c.332G>A (p.Gly111Glu)
|
rs1574892457
|
|
NM_003119.4(SPG7):c.1004T>G (p.Leu335Arg)
|
|
|
NM_003119.4(SPG7):c.1033G>C (p.Ala345Pro)
|
rs368373840
|
|
NM_003119.4(SPG7):c.1248G>A (p.Lys416=)
|
|
|
NM_003119.4(SPG7):c.1315G>A (p.Glu439Lys)
|
|
|
NM_003119.4(SPG7):c.152A>T (p.Asp51Val)
|
rs1161739922
|
|
NM_003119.4(SPG7):c.167G>A (p.Gly56Glu)
|
rs11559074
|
|
NM_003119.4(SPG7):c.1904C>T (p.Ser635Leu)
|
rs864622507
|
|
NM_003119.4(SPG7):c.1931C>T (p.Thr644Ile)
|
rs758702550
|
|
NM_003119.4(SPG7):c.2014G>C (p.Gly672Arg)
|
rs369503365
|
|
NM_003119.4(SPG7):c.2026T>C (p.Phe676Leu)
|
rs72547553
|
|
NM_003119.4(SPG7):c.2065C>T (p.Arg689Cys)
|
|
|
NM_003119.4(SPG7):c.2183T>G (p.Leu728Arg)
|
rs1597668583
|
|
NM_003119.4(SPG7):c.2379G>T (p.Trp793Cys)
|
|
|
NM_003119.4(SPG7):c.619-3C>G
|
rs199740629
|
|
NM_003119.4(SPG7):c.862-8C>A
|
rs754296518
|
|
NM_003119.4(SPG7):c.920_925del (p.Ser307_Phe308del)
|
|
|
NM_003361.4(UMOD):c.116C>A (p.Ala39Asp)
|
rs762973149
|
|
NM_003361.4(UMOD):c.533G>C (p.Arg178Pro)
|
rs1228791562
|
|
NM_003361.4(UMOD):c.611G>C (p.Arg204Pro)
|
|
|
NM_003482.4(KMT2D):c.559C>T (p.Pro187Ser)
|
rs773077415
|
|
NM_003482.4(KMT2D):c.9837GCA[5] (p.Gln3282dup)
|
rs758215754
|
|
NM_003560.4(PLA2G6):c.1877C>T (p.Ser626Leu)
|
rs775354024
|
|
NM_003560.4(PLA2G6):c.343C>T (p.Arg115Cys)
|
rs995653548
|
|
NM_003588.4(CUL4B):c.13T>G (p.Ser5Ala)
|
rs764061992
|
|
NM_003673.4(TCAP):c.472C>A (p.Arg158Ser)
|
rs397516863
|
|
NM_003673.4(TCAP):c.50G>C (p.Arg17Pro)
|
rs750796201
|
|
NM_003680.4(YARS1):c.1094del (p.Pro365fs)
|
rs1413975578
|
|
NM_003680.4(YARS1):c.347A>G (p.Lys116Arg)
|
rs148823175
|
|
NM_003680.4(YARS1):c.510+2_510+10del
|
|
|
NM_003680.4(YARS1):c.732dup (p.Leu245fs)
|
|
|
NM_003680.4(YARS1):c.913C>T (p.His305Tyr)
|
rs1557447426
|
|
NM_003793.4(CTSF):c.952C>T (p.Leu318Phe)
|
rs1219372597
|
|
NM_003850.3(SUCLA2):c.664C>T (p.Leu222Phe)
|
|
|
NM_003850.3(SUCLA2):c.68C>G (p.Thr23Arg)
|
rs538760468
|
|
NM_003900.5(SQSTM1):c.1030A>C (p.Lys344Gln)
|
rs1554091448
|
|
NM_003900.5(SQSTM1):c.302-4G>A
|
rs1757883398
|
|
NM_003900.5(SQSTM1):c.46G>A (p.Ala16Thr)
|
rs773552098
|
|
NM_003900.5(SQSTM1):c.998GAG[1] (p.Gly334del)
|
rs778047147
|
|
NM_003907.3(EIF2B5):c.386G>A (p.Arg129Gln)
|
|
|
NM_003919.3(SGCE):c.185T>C (p.Leu62Ser)
|
|
|
NM_003919.3(SGCE):c.335G>A (p.Gly112Glu)
|
rs2116959049
|
|
NM_003919.3(SGCE):c.386T>A (p.Ile129Asn)
|
rs1554358639
|
|
NM_004004.6(GJB2):c.-165del
|
|
|
NM_004004.6(GJB2):c.-169C>G
|
|
|
NM_004004.6(GJB2):c.-16C>T
|
rs759745271
|
|
NM_004004.6(GJB2):c.-173G>C
|
rs1016014284
|
|
NM_004004.6(GJB2):c.100A>T (p.Met34Leu)
|
rs564084861
|
|
NM_004004.6(GJB2):c.275C>T (p.Ala92Val)
|
rs1959060006
|
|
NM_004004.6(GJB2):c.380G>T (p.Arg127Leu)
|
rs111033196
|
|
NM_004004.6(GJB2):c.53C>G (p.Thr18Ser)
|
rs1566529035
|
|
NM_004004.6(GJB2):c.9G>T (p.Trp3Cys)
|
rs111033401
|
|
NM_004006.2(DMD):c.-240G>T
|
|
|
NM_004006.3(DMD):c.-123T>C
|
rs760595740
|
|
NM_004006.3(DMD):c.10432A>G (p.Ser3478Gly)
|
|
|
NM_004006.3(DMD):c.1309G>A (p.Ala437Thr)
|
rs748964279
|
|
NM_004006.3(DMD):c.1360A>C (p.Asn454His)
|
|
|
NM_004006.3(DMD):c.139G>T (p.Gly47Trp)
|
rs1557084183
|
|
NM_004006.3(DMD):c.2176G>T (p.Val726Phe)
|
rs886044365
|
|
NM_004006.3(DMD):c.3603+2_3603+3insTA
|
rs1603633860
|
|
NM_004006.3(DMD):c.4409G>A (p.Arg1470His)
|
rs752129019
|
|
NM_004006.3(DMD):c.493G>T (p.Asp165Tyr)
|
rs1569528100
|
|
NM_004006.3(DMD):c.5679G>A (p.Leu1893=)
|
|
|
NM_004006.3(DMD):c.5909A>G (p.Asn1970Ser)
|
rs951731570
|
|
NM_004006.3(DMD):c.5995A>G (p.Thr1999Ala)
|
|
|
NM_004006.3(DMD):c.6196G>T (p.Ala2066Ser)
|
rs1468473458
|
|
NM_004006.3(DMD):c.6762G>C (p.Lys2254Asn)
|
rs1569516110
|
|
NM_004006.3(DMD):c.8279A>G (p.Gln2760Arg)
|
|
|
NM_004006.3(DMD):c.881C>T (p.Pro294Leu)
|
rs2063777083
|
|
NM_004006.3(DMD):c.9352G>T (p.Ala3118Ser)
|
rs200928985
|
|
NM_004006.3(DMD):c.941G>T (p.Arg314Leu)
|
rs751164104
|
|
NM_004006.3(DMD):c.9477C>A (p.Asp3159Glu)
|
|
|
NM_004006.3(DMD):c.9974G>C (p.Arg3325Thr)
|
rs398124109
|
|
NM_004082.5(DCTN1):c.1504C>T (p.Arg502Cys)
|
rs145958900
|
|
NM_004082.5(DCTN1):c.279+1G>A
|
rs1393363759
|
|
NM_004082.5(DCTN1):c.279+1G>C
|
rs1393363759
|
|
NM_004082.5(DCTN1):c.279+1G>T
|
rs1393363759
|
|
NM_004082.5(DCTN1):c.3260del (p.Val1087fs)
|
rs2104397699
|
|
NM_004082.5(DCTN1):c.3568G>A (p.Ala1190Thr)
|
rs1251814285
|
|
NM_004092.4(ECHS1):c.412G>A (p.Ala138Thr)
|
|
|
NM_004115.4(FGF14):c.126C>T (p.Gly42=)
|
|
|
NM_004115.4(FGF14):c.154C>T (p.Arg52Cys)
|
|
|
NM_004115.4(FGF14):c.304+5G>A
|
|
|
NM_004115.4(FGF14):c.369G>C (p.Leu123Phe)
|
rs746040831
|
|
NM_004172.5(SLC1A3):c.1279A>G (p.Ile427Val)
|
|
|
NM_004172.5(SLC1A3):c.1435C>T (p.Arg479Trp)
|
rs1561288563
|
|
NM_004172.5(SLC1A3):c.1453C>G (p.Leu485Val)
|
|
|
NM_004172.5(SLC1A3):c.206G>A (p.Arg69Gln)
|
|
|
NM_004172.5(SLC1A3):c.258A>G (p.Glu86=)
|
rs965914540
|
|
NM_004172.5(SLC1A3):c.322A>G (p.Met108Val)
|
|
|
NM_004172.5(SLC1A3):c.363G>T (p.Met121Ile)
|
|
|
NM_004172.5(SLC1A3):c.459A>T (p.Glu153Asp)
|
|
|
NM_004172.5(SLC1A3):c.546G>A (p.Leu182=)
|
rs1742104449
|
|
NM_004172.5(SLC1A3):c.593G>A (p.Ser198Asn)
|
|
|
NM_004172.5(SLC1A3):c.693G>A (p.Leu231=)
|
|
|
NM_004172.5(SLC1A3):c.922G>A (p.Gly308Ser)
|
rs1290342061
|
|
NM_004320.6(ATP2A1):c.1288-5C>G
|
|
|
NM_004320.6(ATP2A1):c.1961C>A (p.Thr654Lys)
|
rs148957878
|
|
NM_004320.6(ATP2A1):c.352G>C (p.Ala118Pro)
|
|
|
NM_004320.6(ATP2A1):c.472A>G (p.Lys158Glu)
|
rs956847228
|
|
NM_004369.4(COL6A3):c.4510C>T (p.Arg1504Trp)
|
rs144223596
|
|
NM_004369.4(COL6A3):c.5067C>A (p.Asp1689Glu)
|
rs370475865
|
|
NM_004369.4(COL6A3):c.6801T>C (p.Gly2267=)
|
rs2077197822
|
|
NM_004380.3(CREBBP):c.6572A>G (p.Glu2191Gly)
|
|
|
NM_004387.4(NKX2-5):c.524T>C (p.Leu175Pro)
|
rs1761356915
|
|
NM_004393.6(DAG1):c.1166G>A (p.Arg389Gln)
|
rs764205302
|
|
NM_004393.6(DAG1):c.1729A>G (p.Met577Val)
|
|
|
NM_004393.6(DAG1):c.1925G>A (p.Cys642Tyr)
|
rs1559580460
|
|
NM_004393.6(DAG1):c.1955G>T (p.Arg652Leu)
|
rs368810294
|
|
NM_004393.6(DAG1):c.212C>A (p.Thr71Lys)
|
rs142572135
|
|
NM_004393.6(DAG1):c.532G>T (p.Val178Leu)
|
rs1217933283
|
|
NM_004393.6(DAG1):c.838C>T (p.Pro280Ser)
|
rs908394465
|
|
NM_004463.3(FGD1):c.2563A>G (p.Ile855Val)
|
rs1569540956
|
|
NM_004484.4(GPC3):c.62C>G (p.Pro21Arg)
|
rs745984441
|
|
NM_004562.3(PRKN):c.1309C>G (p.Pro437Ala)
|
|
|
NM_004621.6(TRPC6):c.186C>T (p.Asn62=)
|
rs1341607254
|
|
NM_004621.6(TRPC6):c.2484+1G>C
|
|
|
NM_004621.6(TRPC6):c.2678G>T (p.Ser893Ile)
|
rs1591517921
|
|
NM_004637.6(RAB7A):c.391A>G (p.Asn131Asp)
|
rs1933807332
|
|
NM_004637.6(RAB7A):c.466G>A (p.Ala156Thr)
|
rs1576304176
|
|
NM_004637.6(RAB7A):c.605C>T (p.Ala202Val)
|
|
|
NM_004646.4(NPHS1):c.212T>C (p.Leu71Pro)
|
rs1568457698
|
|
NM_004646.4(NPHS1):c.2159A>C (p.His720Pro)
|
rs760911714
|
|
NM_004646.4(NPHS1):c.2446T>C (p.Cys816Arg)
|
rs1568453333
|
|
NM_004646.4(NPHS1):c.3024A>G (p.Arg1008=)
|
rs1131691606
|
|
NM_004733.4(SLC33A1):c.1069A>G (p.Ile357Val)
|
rs769178808
|
|
NM_004817.4(TJP2):c.1290_1292del (p.Ser432del)
|
rs780493380
|
|
NM_004820.5(CYP7B1):c.59C>A (p.Pro20Gln)
|
|
|
NM_004820.5(CYP7B1):c.59C>T (p.Pro20Leu)
|
rs537303950
|
|
NM_004820.5(CYP7B1):c.835G>T (p.Asp279Tyr)
|
rs766759427
|
|
NM_004820.5(CYP7B1):c.869T>C (p.Leu290Pro)
|
|
|
NM_004820.5(CYP7B1):c.89T>G (p.Leu30Arg)
|
|
|
NM_004960.4(FUS):c.1527C>T (p.Gly509=)
|
rs2079350695
|
|
NM_004977.3(KCNC3):c.1041C>G (p.Phe347Leu)
|
rs2037069670
|
|
NM_004977.3(KCNC3):c.1153G>A (p.Asp385Asn)
|
|
|
NM_004977.3(KCNC3):c.1198G>T (p.Gly400Cys)
|
|
|
NM_004977.3(KCNC3):c.1229T>C (p.Leu410Pro)
|
rs1601098675
|
|
NM_004977.3(KCNC3):c.1354A>G (p.Ile452Val)
|
|
|
NM_004977.3(KCNC3):c.1474A>G (p.Ile492Val)
|
|
|
NM_004977.3(KCNC3):c.1609G>A (p.Val537Ile)
|
|
|
NM_004977.3(KCNC3):c.1685A>G (p.His562Arg)
|
|
|
NM_004977.3(KCNC3):c.1737ACCCCCGCC[1] (p.Pro583_Pro585del)
|
rs747618525
|
|
NM_004977.3(KCNC3):c.1747C>T (p.Pro583Ser)
|
|
|
NM_004977.3(KCNC3):c.1794A>G (p.Pro598=)
|
rs2123533646
|
|
NM_004977.3(KCNC3):c.1795C>G (p.Pro599Ala)
|
|
|
NM_004977.3(KCNC3):c.1883C>T (p.Ala628Val)
|
|
|
NM_004984.4(KIF5A):c.1362+7G>A
|
rs1349376862
|
|
NM_004984.4(KIF5A):c.1429A>G (p.Asn477Asp)
|
rs1882274569
|
|
NM_004984.4(KIF5A):c.1480C>T (p.Leu494=)
|
|
|
NM_004984.4(KIF5A):c.2656G>T (p.Ala886Ser)
|
rs1017745641
|
|
NM_004984.4(KIF5A):c.586A>G (p.Thr196Ala)
|
rs1565697675
|
|
NM_004984.4(KIF5A):c.590-3C>T
|
rs1882102799
|
|
NM_004999.4(MYO6):c.3177-3C>T
|
rs747051401
|
|
NM_005022.4(PFN1):c.350_351delinsGT (p.Glu117Gly)
|
rs1597686012
|
|
NM_005045.4(RELN):c.1361T>C (p.Leu454Pro)
|
rs1833139042
|
|
NM_005045.4(RELN):c.5021A>G (p.Lys1674Arg)
|
|
|
NM_005045.4(RELN):c.6385G>A (p.Gly2129Ser)
|
rs1228682428
|
|
NM_005051.3(QARS1):c.1658T>A (p.Leu553Gln)
|
rs1559966841
|
|
NM_005120.3(MED12):c.2266G>A (p.Val756Ile)
|
|
|
NM_005159.5(ACTC1):c.590A>G (p.Glu197Gly)
|
|
|
NM_005219.5(DIAPH1):c.3590G>A (p.Gly1197Asp)
|
rs1354335913
|
|
NM_005221.6(DLX5):c.513C>T (p.Ala171=)
|
rs780878673
|
|
NM_005327.7(HADH):c.340G>T (p.Asp114Tyr)
|
|
|
NM_005413.4(SIX3):c.658C>G (p.Leu220Val)
|
|
|
NM_005422.4(TECTA):c.5929C>T (p.Leu1977Phe)
|
rs1591464632
|
|
NM_005476.7(GNE):c.1670T>C (p.Ile557Thr)
|
rs886043979
|
|
NM_005476.7(GNE):c.982+3del
|
rs1587313110
|
|
NM_005477.3(HCN4):c.529G>T (p.Ala177Ser)
|
rs1567801731
|
|
NM_005529.7(HSPG2):c.10151-4G>A
|
|
|
NM_005529.7(HSPG2):c.10193C>G (p.Ser3398Cys)
|
|
|
NM_005529.7(HSPG2):c.10292T>C (p.Leu3431Pro)
|
|
|
NM_005529.7(HSPG2):c.10336G>T (p.Val3446Leu)
|
rs573946760
|
|
NM_005529.7(HSPG2):c.10469T>C (p.Leu3490Pro)
|
rs1557683886
|
|
NM_005529.7(HSPG2):c.11287C>A (p.Leu3763Met)
|
|
|
NM_005529.7(HSPG2):c.11546G>A (p.Arg3849Gln)
|
rs144525987
|
|
NM_005529.7(HSPG2):c.11863G>T (p.Val3955Leu)
|
rs145155624
|
|
NM_005529.7(HSPG2):c.1187A>C (p.Asp396Ala)
|
|
|
NM_005529.7(HSPG2):c.11982G>T (p.Glu3994Asp)
|
|
|
NM_005529.7(HSPG2):c.12328C>T (p.Arg4110Cys)
|
rs766333633
|
|
NM_005529.7(HSPG2):c.12409+10C>A
|
rs1557670210
|
|
NM_005529.7(HSPG2):c.12521G>A (p.Arg4174His)
|
|
|
NM_005529.7(HSPG2):c.13159C>A (p.Arg4387Ser)
|
rs767431377
|
|
NM_005529.7(HSPG2):c.1720G>A (p.Asp574Asn)
|
|
|
NM_005529.7(HSPG2):c.1818+9C>T
|
rs901499998
|
|
NM_005529.7(HSPG2):c.1843C>T (p.Arg615Cys)
|
rs1464145632
|
|
NM_005529.7(HSPG2):c.2339G>A (p.Cys780Tyr)
|
|
|
NM_005529.7(HSPG2):c.2614G>T (p.Val872Phe)
|
rs370645398
|
|
NM_005529.7(HSPG2):c.2879G>T (p.Ser960Ile)
|
rs768568677
|
|
NM_005529.7(HSPG2):c.3035C>T (p.Thr1012Ile)
|
rs1557765051
|
|
NM_005529.7(HSPG2):c.3846C>G (p.Ser1282Arg)
|
rs747787010
|
|
NM_005529.7(HSPG2):c.4184T>C (p.Phe1395Ser)
|
rs868076162
|
|
NM_005529.7(HSPG2):c.4471C>A (p.Leu1491Ile)
|
rs1572277794
|
|
NM_005529.7(HSPG2):c.4672G>A (p.Gly1558Ser)
|
|
|
NM_005529.7(HSPG2):c.4905G>A (p.Gly1635=)
|
rs1557737957
|
|
NM_005529.7(HSPG2):c.5854+5G>A
|
|
|
NM_005529.7(HSPG2):c.5925G>A (p.Leu1975=)
|
|
|
NM_005529.7(HSPG2):c.6134-4C>T
|
|
|
NM_005529.7(HSPG2):c.653G>A (p.Arg218His)
|
rs560206345
|
|
NM_005529.7(HSPG2):c.6871-7T>C
|
|
|
NM_005529.7(HSPG2):c.7104C>A (p.Ser2368=)
|
rs1557715997
|
|
NM_005529.7(HSPG2):c.7210_7233del (p.Glu2404_Gly2411del)
|
rs761662063
|
|
NM_005529.7(HSPG2):c.7276C>T (p.Pro2426Ser)
|
rs1449593780
|
|
NM_005529.7(HSPG2):c.750GAC[1] (p.Thr252del)
|
|
|
NM_005529.7(HSPG2):c.770G>A (p.Arg257Gln)
|
rs149319607
|
|
NM_005529.7(HSPG2):c.8077G>A (p.Glu2693Lys)
|
|
|
NM_005529.7(HSPG2):c.835_836delinsAG (p.Ser279=)
|
rs2152762782
|
|
NM_005529.7(HSPG2):c.8500TCC[2] (p.Ser2836del)
|
|
|
NM_005529.7(HSPG2):c.8545G>A (p.Val2849Met)
|
rs147114700
|
|
NM_005529.7(HSPG2):c.9364G>A (p.Val3122Met)
|
|
|
NM_005529.7(HSPG2):c.9503C>G (p.Ala3168Gly)
|
|
|
NM_005529.7(HSPG2):c.9709+3G>A
|
|
|
NM_005529.7(HSPG2):c.9821G>A (p.Gly3274Asp)
|
|
|
NM_005572.4(LMNA):c.1711C>T (p.Arg571Cys)
|
rs80338938
|
|
NM_005591.4(MRE11):c.1007G>A (p.Cys336Tyr)
|
rs1228681022
|
|
NM_005591.4(MRE11):c.1185T>C (p.Ile395=)
|
rs1001831519
|
|
NM_005591.4(MRE11):c.1269A>C (p.Glu423Asp)
|
|
|
NM_005591.4(MRE11):c.1270G>A (p.Gly424Arg)
|
rs2135000168
|
|
NM_005591.4(MRE11):c.1526A>C (p.Gln509Pro)
|
rs1591667851
|
|
NM_005591.4(MRE11):c.1559G>C (p.Arg520Pro)
|
rs753148077
|
|
NM_005591.4(MRE11):c.1669G>A (p.Asp557Asn)
|
rs1591655152
|
|
NM_005591.4(MRE11):c.1724G>T (p.Gly575Val)
|
rs376555330
|
|
NM_005591.4(MRE11):c.1811G>A (p.Arg604His)
|
rs148637964
|
|
NM_005591.4(MRE11):c.1904T>G (p.Val635Gly)
|
rs780850078
|
|
NM_005591.4(MRE11):c.2071GAT[6] (p.Asp695dup)
|
rs779409748
|
|
NM_005591.4(MRE11):c.391G>T (p.Asp131Tyr)
|
rs368403414
|
|
NM_005592.4(MUSK):c.1445C>G (p.Ser482Cys)
|
|
|
NM_005592.4(MUSK):c.1763G>A (p.Arg588Lys)
|
|
|
NM_005619.5(RTN2):c.184C>G (p.Leu62Val)
|
|
|
NM_005619.5(RTN2):c.35-5C>G
|
rs757800024
|
|
NM_005619.5(RTN2):c.455G>C (p.Arg152Pro)
|
|
|
NM_005619.5(RTN2):c.745G>A (p.Glu249Lys)
|
rs761286207
|
|
NM_005629.4(SLC6A8):c.611_612delinsAC (p.Ala204Asp)
|
rs1569539288
|
|
NM_005629.4(SLC6A8):c.945_949del (p.Phe315fs)
|
rs1603216806
|
|
NM_005670.4(EPM2A):c.553G>C (p.Gly185Arg)
|
|
|
NM_005670.4(EPM2A):c.634A>G (p.Met212Val)
|
rs1562424241
|
|
NM_005859.5(PURA):c.493G>C (p.Gly165Arg)
|
rs1561793272
|
|
NM_005866.4(SIGMAR1):c.463G>A (p.Gly155Arg)
|
rs200076129
|
|
NM_005881.4(BCKDK):c.38G>C (p.Gly13Ala)
|
rs748666025
|
|
NM_005881.4(BCKDK):c.513G>A (p.Glu171=)
|
rs773378545
|
|
NM_005881.4(BCKDK):c.626C>T (p.Ala209Val)
|
|
|
NM_005912.3(MC4R):c.495G>A (p.Arg165=)
|
rs868660454
|
|
NM_006005.3(WFS1):c.1162C>G (p.Leu388Val)
|
rs1578609065
|
|
NM_006015.6(ARID1A):c.2096C>G (p.Pro699Arg)
|
|
|
NM_006030.4(CACNA2D2):c.1525A>G (p.Thr509Ala)
|
rs1559888092
|
|
NM_006030.4(CACNA2D2):c.3307T>A (p.Cys1103Ser)
|
rs1575577385
|
|
NM_006096.4(NDRG1):c.-18-8C>G
|
|
|
NM_006096.4(NDRG1):c.1053_1082del (p.340TRSRSHTSEG[2])
|
rs751274009
|
|
NM_006096.4(NDRG1):c.773T>C (p.Val258Ala)
|
|
|
NM_006096.4(NDRG1):c.77T>C (p.Leu26Pro)
|
|
|
NM_006096.4(NDRG1):c.816C>G (p.Cys272Trp)
|
|
|
NM_006096.4(NDRG1):c.891+3G>C
|
|
|
NM_006158.5(NEFL):c.1196G>C (p.Arg399Pro)
|
rs372997416
|
|
NM_006158.5(NEFL):c.1373T>C (p.Ile458Thr)
|
rs372034119
|
|
NM_006158.5(NEFL):c.1554G>C (p.Glu518Asp)
|
rs754666321
|
|
NM_006158.5(NEFL):c.398C>T (p.Ser133Phe)
|
|
|
NM_006158.5(NEFL):c.460A>C (p.Thr154Pro)
|
rs1803048937
|
|
NM_006158.5(NEFL):c.507G>C (p.Glu169Asp)
|
|
|
NM_006158.5(NEFL):c.604G>A (p.Ala202Thr)
|
|
|
NM_006158.5(NEFL):c.66C>T (p.Pro22=)
|
|
|
NM_006158.5(NEFL):c.882C>G (p.Asn294Lys)
|
rs946938553
|
|
NM_006306.4(SMC1A):c.1289A>T (p.Glu430Val)
|
rs2075703102
|
|
NM_006415.4(SPTLC1):c.687A>G (p.Gln229=)
|
rs1564092714
|
|
NM_006420.2(ARFGEF2):c.1062_1067del
|
rs1555810077
|
|
NM_006420.3(ARFGEF2):c.2101G>A (p.Ala701Thr)
|
rs201298117
|
|
NM_006420.3(ARFGEF2):c.4624+6G>T
|
rs768990826
|
|
NM_006516.4(SLC2A1):c.630T>A (p.Ser210Arg)
|
rs2124449313
|
|
NM_006790.3(MYOT):c.563G>T (p.Arg188Ile)
|
rs370165036
|
|
NM_006790.3(MYOT):c.721G>T (p.Asp241Tyr)
|
|
|
NM_006796.3(AFG3L2):c.1013C>T (p.Ala338Val)
|
rs2143191701
|
|
NM_006796.3(AFG3L2):c.1040C>G (p.Thr347Ser)
|
rs1191222406
|
|
NM_006796.3(AFG3L2):c.113C>A (p.Thr38Lys)
|
rs1285632115
|
|
NM_006796.3(AFG3L2):c.1177T>C (p.Phe393Leu)
|
|
|
NM_006796.3(AFG3L2):c.1328CAA[2] (p.Thr445del)
|
rs749105981
|
|
NM_006796.3(AFG3L2):c.1339GTC[1] (p.Val448del)
|
rs773169376
|
|
NM_006796.3(AFG3L2):c.1386G>A (p.Ala462=)
|
|
|
NM_006796.3(AFG3L2):c.1512A>G (p.Lys504=)
|
|
|
NM_006796.3(AFG3L2):c.1742C>G (p.Ala581Gly)
|
|
|
NM_006796.3(AFG3L2):c.1780-4C>T
|
rs1477129589
|
|
NM_006796.3(AFG3L2):c.1981-3C>A
|
rs1487683840
|
|
NM_006796.3(AFG3L2):c.2060A>C (p.Lys687Thr)
|
|
|
NM_006796.3(AFG3L2):c.2062C>G (p.Pro688Ala)
|
rs797045221
|
|
NM_006796.3(AFG3L2):c.2063C>T (p.Pro688Leu)
|
rs2143111468
|
|
NM_006796.3(AFG3L2):c.2069G>A (p.Ser690Asn)
|
rs1568133901
|
|
NM_006796.3(AFG3L2):c.2092G>T (p.Asp698Tyr)
|
rs1598820833
|
|
NM_006796.3(AFG3L2):c.2114T>C (p.Ile705Thr)
|
rs1598820805
|
|
NM_006796.3(AFG3L2):c.2295C>T (p.Ser765=)
|
|
|
NM_006796.3(AFG3L2):c.2314C>A (p.Leu772Ile)
|
rs117182113
|
|
NM_006796.3(AFG3L2):c.2327T>C (p.Leu776Pro)
|
rs1568130466
|
|
NM_006796.3(AFG3L2):c.2350G>A (p.Glu784Lys)
|
|
|
NM_006796.3(AFG3L2):c.463G>A (p.Gly155Ser)
|
rs863223888
|
|
NM_006796.3(AFG3L2):c.863T>C (p.Leu288Pro)
|
rs1598833620
|
|
NM_006796.3(AFG3L2):c.867C>T (p.Phe289=)
|
|
|
NM_006859.4(LIAS):c.394-5T>C
|
|
|
NM_006859.4(LIAS):c.433T>A (p.Ser145Thr)
|
rs1196830198
|
|
NM_006876.3(B4GAT1):c.704G>A (p.Gly235Glu)
|
rs1266269787
|
|
NM_006883.2(SHOX):c.*12T>C
|
rs1569497023
|
|
NM_006883.2(SHOX):c.*16A>G
|
rs1270583348
|
|
NM_006883.2(SHOX):c.*5G>A
|
|
|
NM_006883.2(SHOX):c.635T>C (p.Met212Thr)
|
|
|
NM_006883.2(SHOX):c.652C>T (p.Arg218Cys)
|
|
|
NM_006883.2(SHOX):c.655C>T (p.Pro219Ser)
|
|
|
NM_006922.4(SCN3A):c.4983G>C (p.Leu1661=)
|
rs1018125027
|
|
NM_006941.4(SOX10):c.191A>T (p.Asp64Val)
|
rs372400283
|
|
NM_006946.4(SPTBN2):c.1044C>T (p.Asn348=)
|
|
|
NM_006946.4(SPTBN2):c.1295G>A (p.Arg432His)
|
|
|
NM_006946.4(SPTBN2):c.1877T>C (p.Leu626Pro)
|
rs1554984881
|
|
NM_006946.4(SPTBN2):c.1903G>A (p.Ala635Thr)
|
|
|
NM_006946.4(SPTBN2):c.2023G>C (p.Gly675Arg)
|
rs776861052
|
|
NM_006946.4(SPTBN2):c.2194C>A (p.Leu732Ile)
|
|
|
NM_006946.4(SPTBN2):c.2237C>T (p.Ala746Val)
|
|
|
NM_006946.4(SPTBN2):c.2272G>T (p.Asp758Tyr)
|
rs894025675
|
|
NM_006946.4(SPTBN2):c.2527G>A (p.Glu843Lys)
|
|
|
NM_006946.4(SPTBN2):c.2537G>A (p.Arg846Gln)
|
rs1428439827
|
|
NM_006946.4(SPTBN2):c.2620T>C (p.Trp874Arg)
|
|
|
NM_006946.4(SPTBN2):c.265C>T (p.Arg89Cys)
|
rs1565151375
|
|
NM_006946.4(SPTBN2):c.2702T>C (p.Met901Thr)
|
|
|
NM_006946.4(SPTBN2):c.2779G>T (p.Asp927Tyr)
|
rs766125112
|
|
NM_006946.4(SPTBN2):c.2807T>C (p.Leu936Pro)
|
rs2135418994
|
|
NM_006946.4(SPTBN2):c.2951C>A (p.Thr984Asn)
|
rs1941221838
|
|
NM_006946.4(SPTBN2):c.2955G>A (p.Gln985=)
|
rs1941221540
|
|
NM_006946.4(SPTBN2):c.310-3C>T
|
rs1942089988
|
|
NM_006946.4(SPTBN2):c.3150C>T (p.Leu1050=)
|
|
|
NM_006946.4(SPTBN2):c.3166C>T (p.Arg1056Cys)
|
|
|
NM_006946.4(SPTBN2):c.3332G>C (p.Arg1111Pro)
|
rs763945497
|
|
NM_006946.4(SPTBN2):c.3423C>G (p.Leu1141=)
|
rs1941187600
|
|
NM_006946.4(SPTBN2):c.3494A>G (p.Gln1165Arg)
|
|
|
NM_006946.4(SPTBN2):c.3731T>G (p.Ile1244Ser)
|
rs1565126661
|
|
NM_006946.4(SPTBN2):c.4014+7A>G
|
|
|
NM_006946.4(SPTBN2):c.4015-7C>T
|
|
|
NM_006946.4(SPTBN2):c.4070A>G (p.Lys1357Arg)
|
|
|
NM_006946.4(SPTBN2):c.4279-10C>T
|
|
|
NM_006946.4(SPTBN2):c.4514C>T (p.Thr1505Ile)
|
|
|
NM_006946.4(SPTBN2):c.4558C>G (p.Leu1520Val)
|
rs767617743
|
|
NM_006946.4(SPTBN2):c.4907C>T (p.Ala1636Val)
|
rs1484351160
|
|
NM_006946.4(SPTBN2):c.5042A>G (p.Glu1681Gly)
|
rs756510588
|
|
NM_006946.4(SPTBN2):c.5057G>A (p.Arg1686Gln)
|
|
|
NM_006946.4(SPTBN2):c.5190+6T>C
|
|
|
NM_006946.4(SPTBN2):c.5356C>G (p.Leu1786Val)
|
|
|
NM_006946.4(SPTBN2):c.5378G>A (p.Arg1793Gln)
|
|
|
NM_006946.4(SPTBN2):c.5414G>A (p.Arg1805His)
|
rs1222870637
|
|
NM_006946.4(SPTBN2):c.5432G>A (p.Arg1811His)
|
|
|
NM_006946.4(SPTBN2):c.5565+5G>C
|
|
|
NM_006946.4(SPTBN2):c.5659G>A (p.Glu1887Lys)
|
|
|
NM_006946.4(SPTBN2):c.5681G>A (p.Gly1894Glu)
|
rs148293687
|
|
NM_006946.4(SPTBN2):c.5811-3dup
|
|
|
NM_006946.4(SPTBN2):c.5906T>C (p.Met1969Thr)
|
|
|
NM_006946.4(SPTBN2):c.611G>C (p.Ser204Thr)
|
|
|
NM_006946.4(SPTBN2):c.6182CAG[1] (p.Ala2062del)
|
|
|
NM_006946.4(SPTBN2):c.6231+3del
|
|
|
NM_006946.4(SPTBN2):c.6263A>G (p.Lys2088Arg)
|
|
|
NM_006946.4(SPTBN2):c.6284G>A (p.Arg2095Gln)
|
|
|
NM_006946.4(SPTBN2):c.6502-5C>A
|
|
|
NM_006946.4(SPTBN2):c.6567G>A (p.Pro2189=)
|
|
|
NM_006946.4(SPTBN2):c.6601G>A (p.Glu2201Lys)
|
rs1256781556
|
|
NM_006946.4(SPTBN2):c.6650C>T (p.Ala2217Val)
|
|
|
NM_006946.4(SPTBN2):c.6657G>A (p.Glu2219=)
|
|
|
NM_006946.4(SPTBN2):c.6680G>A (p.Arg2227His)
|
|
|
NM_006946.4(SPTBN2):c.6868C>T (p.Arg2290Ter)
|
|
|
NM_006946.4(SPTBN2):c.6897-6C>A
|
|
|
NM_006946.4(SPTBN2):c.753C>A (p.Thr251=)
|
|
|
NM_006946.4(SPTBN2):c.794A>G (p.Asp265Gly)
|
rs1941830514
|
|
NM_006946.4(SPTBN2):c.794A>T (p.Asp265Val)
|
rs1941830514
|
|
NM_006950.3(SYN1):c.1322C>A (p.Ala441Asp)
|
rs1569322817
|
|
NM_007126.5(VCP):c.478G>C (p.Ala160Pro)
|
rs1554668805
|
|
NM_007254.4(PNKP):c.1360C>A (p.Leu454Met)
|
rs200611702
|
|
NM_007262.5(PARK7):c.317G>A (p.Cys106Tyr)
|
|
|
NM_007262.5(PARK7):c.505G>T (p.Val169Phe)
|
rs2124006611
|
|
NM_007325.5(GRIA3):c.1878-3T>C
|
|
|
NM_007325.5(GRIA3):c.2552G>A (p.Arg851Gln)
|
rs1395100721
|
|
NM_007327.4(GRIN1):c.1848C>G (p.Asn616Lys)
|
|
|
NM_007375.4(TARDBP):c.1121A>T (p.Tyr374Phe)
|
rs1643661597
|
|
NM_007375.4(TARDBP):c.1150G>C (p.Gly384Arg)
|
rs797044594
|
|
NM_007375.4(TARDBP):c.1173delinsCAATGCG (p.Ala391_Gly392insAsnAla)
|
|
|
NM_007375.4(TARDBP):c.883G>C (p.Gly295Arg)
|
rs80356723
|
|
NM_007375.4(TARDBP):c.892G>T (p.Gly298Cys)
|
rs4884357
|
|
NM_012210.4(TRIM32):c.164G>T (p.Ser55Ile)
|
rs1564215128
|
|
NM_012210.4(TRIM32):c.1710G>A (p.Ser570=)
|
rs555217187
|
|
NM_012232.6(CAVIN1):c.405C>G (p.Ile135Met)
|
|
|
NM_012233.3(RAB3GAP1):c.18+4A>G
|
rs550325115
|
|
NM_012233.3(RAB3GAP1):c.372A>G (p.Leu124=)
|
rs886054850
|
|
NM_012233.3(RAB3GAP1):c.722A>G (p.Gln241Arg)
|
|
|
NM_012301.4(MAGI2):c.1738G>C (p.Gly580Arg)
|
rs373777210
|
|
NM_012301.4(MAGI2):c.2723C>G (p.Pro908Arg)
|
rs150080418
|
|
NM_012463.4(ATP6V0A2):c.516A>G (p.Lys172=)
|
|
|
NM_013275.6(ANKRD11):c.149A>T (p.Glu50Val)
|
rs1567614253
|
|
NM_013275.6(ANKRD11):c.6159G>C (p.Ala2053=)
|
rs368315956
|
|
NM_013296.5(GPSM2):c.1472G>C (p.Gly491Ala)
|
rs147906282
|
|
NM_013296.5(GPSM2):c.1571C>T (p.Ser524Phe)
|
rs1650792784
|
|
NM_013382.7(POMT2):c.1006+10T>C
|
|
|
NM_013382.7(POMT2):c.124C>G (p.Pro42Ala)
|
rs1350511523
|
|
NM_013382.7(POMT2):c.1726-8T>C
|
|
|
NM_013382.7(POMT2):c.620T>C (p.Met207Thr)
|
rs1326409250
|
|
NM_013444.3(UBQLN2):c.1581_1584delinsG (p.Thr528del)
|
rs1569254580
|
|
NM_013444.4(UBQLN2):c.1145T>A (p.Leu382Gln)
|
rs1569254361
|
|
NM_013444.4(UBQLN2):c.1499C>A (p.Pro500His)
|
rs2068636097
|
|
NM_014043.4(CHMP2B):c.328C>A (p.Gln110Lys)
|
rs1559610428
|
|
NM_014053.4(FLVCR1):c.1015A>T (p.Ile339Phe)
|
rs1558113016
|
|
NM_014053.4(FLVCR1):c.1281C>A (p.Ile427=)
|
|
|
NM_014053.4(FLVCR1):c.1406C>G (p.Ser469Cys)
|
rs1203409620
|
|
NM_014053.4(FLVCR1):c.143C>T (p.Pro48Leu)
|
rs762104775
|
|
NM_014053.4(FLVCR1):c.1459G>C (p.Asp487His)
|
|
|
NM_014053.4(FLVCR1):c.391A>G (p.Ile131Val)
|
rs1558104917
|
|
NM_014053.4(FLVCR1):c.555C>T (p.Cys185=)
|
|
|
NM_014053.4(FLVCR1):c.573G>A (p.Lys191=)
|
|
|
NM_014053.4(FLVCR1):c.585GCA[2] (p.Gln197del)
|
|
|
NM_014053.4(FLVCR1):c.799A>G (p.Thr267Ala)
|
rs1558107949
|
|
NM_014053.4(FLVCR1):c.819T>C (p.Asn273=)
|
rs1558107967
|
|
NM_014053.4(FLVCR1):c.839G>A (p.Gly280Glu)
|
|
|
NM_014053.4(FLVCR1):c.853G>T (p.Ala285Ser)
|
|
|
NM_014053.4(FLVCR1):c.88C>T (p.Pro30Ser)
|
|
|
NM_014141.6(CNTNAP2):c.2440A>G (p.Thr814Ala)
|
rs1060503571
|
|
NM_014141.6(CNTNAP2):c.3555C>G (p.Asn1185Lys)
|
rs369699763
|
|
NM_014141.6(CNTNAP2):c.638C>T (p.Ala213Val)
|
rs1563079216
|
|
NM_014159.7(SETD2):c.539C>T (p.Ser180Leu)
|
rs1559750451
|
|
NM_014231.5(VAMP1):c.172A>G (p.Arg58Gly)
|
|
|
NM_014231.5(VAMP1):c.2+10C>T
|
|
|
NM_014231.5(VAMP1):c.338T>G (p.Val113Gly)
|
|
|
NM_014254.3(RXYLT1):c.1147TTTATC[1] (p.383FI[1])
|
rs767728184
|
|
NM_014363.6(SACS):c.10124G>C (p.Arg3375Thr)
|
rs776727312
|
|
NM_014363.6(SACS):c.10158A>G (p.Ala3386=)
|
rs775633710
|
|
NM_014363.6(SACS):c.10238A>G (p.Tyr3413Cys)
|
|
|
NM_014363.6(SACS):c.1028A>G (p.His343Arg)
|
|
|
NM_014363.6(SACS):c.10291G>A (p.Val3431Ile)
|
|
|
NM_014363.6(SACS):c.1061C>G (p.Thr354Ser)
|
rs1425519295
|
|
NM_014363.6(SACS):c.1066A>G (p.Ile356Val)
|
rs148286091
|
|
NM_014363.6(SACS):c.10765A>G (p.Ile3589Val)
|
|
|
NM_014363.6(SACS):c.10766T>C (p.Ile3589Thr)
|
|
|
NM_014363.6(SACS):c.11109C>T (p.Ser3703=)
|
rs1883570677
|
|
NM_014363.6(SACS):c.11137C>A (p.Pro3713Thr)
|
|
|
NM_014363.6(SACS):c.11139C>G (p.Pro3713=)
|
|
|
NM_014363.6(SACS):c.11215G>A (p.Val3739Ile)
|
rs1027336196
|
|
NM_014363.6(SACS):c.11296G>A (p.Val3766Ile)
|
|
|
NM_014363.6(SACS):c.11853A>G (p.Leu3951=)
|
rs1883510768
|
|
NM_014363.6(SACS):c.11889G>A (p.Met3963Ile)
|
|
|
NM_014363.6(SACS):c.12182G>A (p.Gly4061Asp)
|
rs1883488232
|
|
NM_014363.6(SACS):c.12533C>T (p.Pro4178Leu)
|
|
|
NM_014363.6(SACS):c.12618T>C (p.Ile4206=)
|
rs1883457103
|
|
NM_014363.6(SACS):c.12818T>G (p.Leu4273Arg)
|
|
|
NM_014363.6(SACS):c.12932C>A (p.Thr4311Lys)
|
|
|
NM_014363.6(SACS):c.13038C>A (p.Asp4346Glu)
|
rs2137552312
|
|
NM_014363.6(SACS):c.13244A>G (p.Gln4415Arg)
|
|
|
NM_014363.6(SACS):c.13316A>G (p.Lys4439Arg)
|
|
|
NM_014363.6(SACS):c.13520A>G (p.Gln4507Arg)
|
|
|
NM_014363.6(SACS):c.1354C>T (p.Pro452Ser)
|
|
|
NM_014363.6(SACS):c.13610G>A (p.Arg4537Lys)
|
|
|
NM_014363.6(SACS):c.1391T>G (p.Ile464Ser)
|
rs1593144937
|
|
NM_014363.6(SACS):c.1485T>G (p.Phe495Leu)
|
|
|
NM_014363.6(SACS):c.1498G>A (p.Val500Ile)
|
rs1244967438
|
|
NM_014363.6(SACS):c.1543C>T (p.Arg515Cys)
|
|
|
NM_014363.6(SACS):c.171+3A>G
|
|
|
NM_014363.6(SACS):c.1969G>T (p.Asp657Tyr)
|
rs2137716974
|
|
NM_014363.6(SACS):c.2037CTC[1] (p.Ser682del)
|
rs764516069
|
|
NM_014363.6(SACS):c.2096C>T (p.Ser699Phe)
|
rs374680967
|
|
NM_014363.6(SACS):c.2180C>G (p.Thr727Ser)
|
|
|
NM_014363.6(SACS):c.2182C>G (p.Arg728Gly)
|
rs752059006
|
|
NM_014363.6(SACS):c.2223A>T (p.Glu741Asp)
|
|
|
NM_014363.6(SACS):c.2428G>C (p.Glu810Gln)
|
|
|
NM_014363.6(SACS):c.2465T>G (p.Ile822Ser)
|
|
|
NM_014363.6(SACS):c.247T>C (p.Leu83=)
|
rs1470292816
|
|
NM_014363.6(SACS):c.2562A>T (p.Lys854Asn)
|
|
|
NM_014363.6(SACS):c.2572T>G (p.Ser858Ala)
|
|
|
NM_014363.6(SACS):c.2594A>C (p.Lys865Thr)
|
|
|
NM_014363.6(SACS):c.2614_2619del (p.Leu872_Pro873del)
|
rs771746381
|
|
NM_014363.6(SACS):c.2845G>C (p.Val949Leu)
|
rs1869160064
|
|
NM_014363.6(SACS):c.2997T>A (p.Ile999=)
|
rs1869142388
|
|
NM_014363.6(SACS):c.328_330delinsAGT (p.Gly110Ser)
|
|
|
NM_014363.6(SACS):c.3427C>G (p.Gln1143Glu)
|
|
|
NM_014363.6(SACS):c.3915T>C (p.His1305=)
|
rs767598017
|
|
NM_014363.6(SACS):c.394T>G (p.Leu132Val)
|
|
|
NM_014363.6(SACS):c.4114C>G (p.Pro1372Ala)
|
rs771277349
|
|
NM_014363.6(SACS):c.4496T>C (p.Met1499Thr)
|
|
|
NM_014363.6(SACS):c.4522A>C (p.Asn1508His)
|
rs144653411
|
|
NM_014363.6(SACS):c.4538G>C (p.Gly1513Ala)
|
|
|
NM_014363.6(SACS):c.4546G>A (p.Ala1516Thr)
|
|
|
NM_014363.6(SACS):c.477C>T (p.Tyr159=)
|
rs1870531490
|
|
NM_014363.6(SACS):c.4835G>C (p.Arg1612Thr)
|
|
|
NM_014363.6(SACS):c.4916A>G (p.Tyr1639Cys)
|
rs1566068293
|
|
NM_014363.6(SACS):c.508C>T (p.His170Tyr)
|
|
|
NM_014363.6(SACS):c.5149_5151del (p.Lys1717del)
|
rs754439135
|
|
NM_014363.6(SACS):c.5162C>T (p.Ser1721Phe)
|
|
|
NM_014363.6(SACS):c.5188A>C (p.Ser1730Arg)
|
|
|
NM_014363.6(SACS):c.5341C>T (p.Leu1781Phe)
|
|
|
NM_014363.6(SACS):c.5615G>C (p.Cys1872Ser)
|
|
|
NM_014363.6(SACS):c.5668T>C (p.Phe1890Leu)
|
|
|
NM_014363.6(SACS):c.5671G>C (p.Ala1891Pro)
|
rs1868843160
|
|
NM_014363.6(SACS):c.5711C>G (p.Thr1904Arg)
|
rs758570844
|
|
NM_014363.6(SACS):c.5849A>C (p.Asp1950Ala)
|
rs375962720
|
|
NM_014363.6(SACS):c.5935T>G (p.Phe1979Val)
|
|
|
NM_014363.6(SACS):c.6149C>G (p.Thr2050Arg)
|
|
|
NM_014363.6(SACS):c.6179T>C (p.Val2060Ala)
|
|
|
NM_014363.6(SACS):c.6406A>T (p.Thr2136Ser)
|
rs1566066009
|
|
NM_014363.6(SACS):c.6435G>C (p.Leu2145Phe)
|
rs1593128652
|
|
NM_014363.6(SACS):c.6515A>C (p.Glu2172Ala)
|
rs1566065814
|
|
NM_014363.6(SACS):c.6632A>G (p.Gln2211Arg)
|
rs1044714793
|
|
NM_014363.6(SACS):c.6702T>A (p.Phe2234Leu)
|
rs774487714
|
|
NM_014363.6(SACS):c.6730G>A (p.Asp2244Asn)
|
rs1868692401
|
|
NM_014363.6(SACS):c.6751C>A (p.Gln2251Lys)
|
rs747293426
|
|
NM_014363.6(SACS):c.6859A>C (p.Lys2287Gln)
|
rs1397588851
|
|
NM_014363.6(SACS):c.6932A>G (p.Tyr2311Cys)
|
rs1566065185
|
|
NM_014363.6(SACS):c.7210T>G (p.Leu2404Val)
|
rs1593127760
|
|
NM_014363.6(SACS):c.7367C>T (p.Thr2456Ile)
|
|
|
NM_014363.6(SACS):c.744A>G (p.Ala248=)
|
rs1448438600
|
|
NM_014363.6(SACS):c.751G>A (p.Val251Ile)
|
rs776176699
|
|
NM_014363.6(SACS):c.7644G>C (p.Glu2548Asp)
|
rs1868579030
|
|
NM_014363.6(SACS):c.7831A>G (p.Thr2611Ala)
|
|
|
NM_014363.6(SACS):c.7993C>T (p.Arg2665Cys)
|
|
|
NM_014363.6(SACS):c.8063C>A (p.Thr2688Asn)
|
|
|
NM_014363.6(SACS):c.8080A>T (p.Asn2694Tyr)
|
rs1390533003
|
|
NM_014363.6(SACS):c.8330G>A (p.Arg2777Lys)
|
rs1868501054
|
|
NM_014363.6(SACS):c.8426A>C (p.Glu2809Ala)
|
|
|
NM_014363.6(SACS):c.8454G>T (p.Trp2818Cys)
|
|
|
NM_014363.6(SACS):c.8795G>A (p.Arg2932Gln)
|
|
|
NM_014363.6(SACS):c.8819C>T (p.Thr2940Ile)
|
|
|
NM_014363.6(SACS):c.9245G>A (p.Cys3082Tyr)
|
|
|
NM_014363.6(SACS):c.9359G>T (p.Arg3120Leu)
|
rs569955570
|
|
NM_014363.6(SACS):c.9519T>G (p.Phe3173Leu)
|
rs780746393
|
|
NM_014363.6(SACS):c.9603G>C (p.Leu3201Phe)
|
|
|
NM_014363.6(SACS):c.9754A>G (p.Ser3252Gly)
|
rs1593124621
|
|
NM_014363.6(SACS):c.9905T>C (p.Leu3302Pro)
|
rs2137579752
|
|
NM_014365.3(HSPB8):c.138C>T (p.Ala46=)
|
|
|
NM_014365.3(HSPB8):c.175G>A (p.Ala59Thr)
|
|
|
NM_014365.3(HSPB8):c.229G>T (p.Ala77Ser)
|
rs752044307
|
|
NM_014365.3(HSPB8):c.266dup (p.Pro90fs)
|
rs773017653
|
|
NM_014625.4(NPHS2):c.1064A>G (p.Asn355Ser)
|
rs1040479346
|
|
NM_014795.4(ZEB2):c.3469G>A (p.Asp1157Asn)
|
rs1573707719
|
|
NM_014845.6(FIG4):c.1199A>G (p.Tyr400Cys)
|
rs755232396
|
|
NM_014845.6(FIG4):c.1403G>A (p.Gly468Glu)
|
rs1583699947
|
|
NM_014845.6(FIG4):c.1610A>C (p.His537Pro)
|
|
|
NM_014845.6(FIG4):c.1877C>T (p.Pro626Leu)
|
rs772937400
|
|
NM_014845.6(FIG4):c.2460A>C (p.Arg820Ser)
|
rs886060984
|
|
NM_014845.6(FIG4):c.2547-5T>G
|
rs200267243
|
|
NM_014845.6(FIG4):c.295G>T (p.Val99Phe)
|
|
|
NM_014845.6(FIG4):c.744G>A (p.Leu248=)
|
rs76125290
|
|
NM_014845.6(FIG4):c.848G>A (p.Arg283His)
|
rs1562655830
|
|
NM_014846.4(WASHC5):c.-2dup
|
|
|
NM_014846.4(WASHC5):c.1859T>G (p.Val620Gly)
|
rs2130089105
|
|
NM_014846.4(WASHC5):c.1882C>A (p.Gln628Lys)
|
rs868134220
|
|
NM_014846.4(WASHC5):c.2391G>C (p.Trp797Cys)
|
|
|
NM_014855.3(AP5Z1):c.1618C>T (p.Leu540=)
|
rs1781648313
|
|
NM_014855.3(AP5Z1):c.1795G>T (p.Gly599Cys)
|
rs369917291
|
|
NM_014855.3(AP5Z1):c.2167C>T (p.Leu723=)
|
rs2115130676
|
|
NM_014855.3(AP5Z1):c.37G>C (p.Ala13Pro)
|
rs1262433596
|
|
NM_014855.3(AP5Z1):c.553C>T (p.Arg185Cys)
|
|
|
NM_014855.3(AP5Z1):c.838A>C (p.Thr280Pro)
|
rs554060393
|
|
NM_014874.4(MFN2):c.107AGA[2] (p.Lys38del)
|
rs1478175861
|
|
NM_014874.4(MFN2):c.1085C>G (p.Thr362Arg)
|
rs387906991
|
|
NM_014874.4(MFN2):c.1127T>C (p.Met376Thr)
|
rs1569854342
|
|
NM_014874.4(MFN2):c.1132T>C (p.Ser378Pro)
|
rs1569854381
|
|
NM_014874.4(MFN2):c.1143GGC[1] (p.Ala383del)
|
rs1553144065
|
|
NM_014874.4(MFN2):c.1144G>C (p.Ala382Pro)
|
rs1553144066
|
|
NM_014874.4(MFN2):c.128T>G (p.Phe43Cys)
|
|
|
NM_014874.4(MFN2):c.1327_1328del (p.Val443fs)
|
rs2100848845
|
|
NM_014874.4(MFN2):c.1579G>C (p.Asp527His)
|
rs1569865413
|
|
NM_014874.4(MFN2):c.183C>T (p.Tyr61=)
|
rs1638734576
|
|
NM_014874.4(MFN2):c.1A>G (p.Met1Val)
|
rs1557515730
|
|
NM_014874.4(MFN2):c.2041G>A (p.Gly681Ser)
|
rs2100858769
|
|
NM_014874.4(MFN2):c.2120G>A (p.Arg707Gln)
|
|
|
NM_014874.4(MFN2):c.2222T>C (p.Leu741Ser)
|
rs1553146559
|
|
NM_014874.4(MFN2):c.2228G>A (p.Ser743Asn)
|
rs1639696930
|
|
NM_014874.4(MFN2):c.239G>T (p.Gly80Val)
|
rs139827903
|
|
NM_014874.4(MFN2):c.311G>T (p.Arg104Leu)
|
rs863224068
|
|
NM_014874.4(MFN2):c.373G>A (p.Gly125Arg)
|
rs1569829787
|
|
NM_014874.4(MFN2):c.467G>T (p.Ser156Ile)
|
rs1557521949
|
|
NM_014874.4(MFN2):c.524C>T (p.Ala175Val)
|
|
|
NM_014874.4(MFN2):c.626T>G (p.Leu209Arg)
|
rs1639043428
|
|
NM_014874.4(MFN2):c.657T>A (p.Asp219Glu)
|
|
|
NM_014874.4(MFN2):c.665T>C (p.Val222Ala)
|
rs2100831825
|
|
NM_014874.4(MFN2):c.683A>C (p.Asn228Thr)
|
rs1569842663
|
|
NM_014874.4(MFN2):c.711A>T (p.Glu237Asp)
|
rs1557525000
|
|
NM_014874.4(MFN2):c.722_724dup (p.Phe241_His242insLeu)
|
rs2100832392
|
|
NM_014918.5(CHSY1):c.1006C>T (p.Arg336Cys)
|
rs1320280755
|
|
NM_014918.5(CHSY1):c.971T>C (p.Ile324Thr)
|
rs1596419735
|
|
NM_014946.4(SPAST):c.1061T>G (p.Leu354Trp)
|
rs1553315342
|
|
NM_014946.4(SPAST):c.1096G>A (p.Glu366Lys)
|
rs1553315356
|
|
NM_014946.4(SPAST):c.1105A>C (p.Thr369Pro)
|
rs1553316802
|
|
NM_014946.4(SPAST):c.1116A>C (p.Arg372Ser)
|
rs1425976342
|
|
NM_014946.4(SPAST):c.1174G>C (p.Ala392Pro)
|
rs1558331867
|
|
NM_014946.4(SPAST):c.1223C>T (p.Ala408Val)
|
rs1553317043
|
|
NM_014946.4(SPAST):c.1247T>C (p.Val416Ala)
|
rs1558336489
|
|
NM_014946.4(SPAST):c.1397T>C (p.Leu466Pro)
|
rs1573156486
|
|
NM_014946.4(SPAST):c.1399A>G (p.Ile467Val)
|
rs1573156509
|
|
NM_014946.4(SPAST):c.1409A>C (p.Asp470Ala)
|
rs121908516
|
|
NM_014946.4(SPAST):c.1445T>C (p.Val482Ala)
|
rs1417318347
|
|
NM_014946.4(SPAST):c.1494-5T>G
|
rs1553319072
|
|
NM_014946.4(SPAST):c.1526C>T (p.Pro509Leu)
|
rs1443578852
|
|
NM_014946.4(SPAST):c.1553T>C (p.Leu518Pro)
|
rs1553319290
|
|
NM_014946.4(SPAST):c.1574A>G (p.Gln525Arg)
|
rs2148759426
|
|
NM_014946.4(SPAST):c.1610T>G (p.Leu537Arg)
|
|
|
NM_014946.4(SPAST):c.1640G>A (p.Ser547Asn)
|
|
|
NM_014946.4(SPAST):c.1655T>C (p.Leu552Ser)
|
|
|
NM_014946.4(SPAST):c.1728G>A (p.Glu576=)
|
rs1060502225
|
|
NM_014946.4(SPAST):c.1728G>T (p.Glu576Asp)
|
rs1060502225
|
|
NM_014946.4(SPAST):c.1785C>A (p.Ser595Arg)
|
rs145206063
|
|
NM_014946.4(SPAST):c.244T>C (p.Phe82Leu)
|
rs1558605895
|
|
NM_014946.4(SPAST):c.301TCGGCC[1] (p.101SA[1])
|
|
|
NM_014946.4(SPAST):c.37T>A (p.Ser13Thr)
|
rs781222498
|
|
NM_014946.4(SPAST):c.385A>G (p.Ile129Val)
|
rs1362108129
|
|
NM_014946.4(SPAST):c.73C>T (p.Pro25Ser)
|
|
|
NM_014946.4(SPAST):c.845C>G (p.Ser282Cys)
|
|
|
NM_015046.7(SETX):c.*2A>G
|
|
|
NM_015046.7(SETX):c.1004C>G (p.Ser335Cys)
|
|
|
NM_015046.7(SETX):c.100G>A (p.Asp34Asn)
|
|
|
NM_015046.7(SETX):c.1273G>T (p.Gly425Cys)
|
rs1428065074
|
|
NM_015046.7(SETX):c.1274G>C (p.Gly425Ala)
|
rs1199659912
|
|
NM_015046.7(SETX):c.1285A>G (p.Ile429Val)
|
rs747053403
|
|
NM_015046.7(SETX):c.1343A>C (p.Asp448Ala)
|
rs370363342
|
|
NM_015046.7(SETX):c.1427_1432del (p.His476_Leu477del)
|
rs777314512
|
|
NM_015046.7(SETX):c.1462G>A (p.Ala488Thr)
|
|
|
NM_015046.7(SETX):c.1771A>G (p.Ile591Val)
|
|
|
NM_015046.7(SETX):c.1837A>C (p.Lys613Gln)
|
|
|
NM_015046.7(SETX):c.241A>G (p.Ile81Val)
|
|
|
NM_015046.7(SETX):c.2660A>G (p.Gln887Arg)
|
rs769138877
|
|
NM_015046.7(SETX):c.2698A>G (p.Thr900Ala)
|
rs1320466105
|
|
NM_015046.7(SETX):c.2699C>G (p.Thr900Arg)
|
|
|
NM_015046.7(SETX):c.2721GAA[1] (p.Lys909del)
|
|
|
NM_015046.7(SETX):c.2887C>T (p.His963Tyr)
|
|
|
NM_015046.7(SETX):c.32G>A (p.Gly11Asp)
|
rs886063560
|
|
NM_015046.7(SETX):c.3311A>C (p.Gln1104Pro)
|
rs777787438
|
|
NM_015046.7(SETX):c.3350C>T (p.Thr1117Ile)
|
rs1564541749
|
|
NM_015046.7(SETX):c.3428G>T (p.Arg1143Ile)
|
|
|
NM_015046.7(SETX):c.3566A>G (p.Asn1189Ser)
|
|
|
NM_015046.7(SETX):c.3567T>G (p.Asn1189Lys)
|
|
|
NM_015046.7(SETX):c.3601A>T (p.Ile1201Phe)
|
rs1589740212
|
|
NM_015046.7(SETX):c.3607A>G (p.Arg1203Gly)
|
|
|
NM_015046.7(SETX):c.3683C>T (p.Thr1228Ile)
|
rs921853577
|
|
NM_015046.7(SETX):c.377A>C (p.His126Pro)
|
|
|
NM_015046.7(SETX):c.3974A>G (p.Lys1325Arg)
|
|
|
NM_015046.7(SETX):c.4103G>T (p.Cys1368Phe)
|
rs1445388214
|
|
NM_015046.7(SETX):c.4316T>C (p.Leu1439Ser)
|
rs1589737441
|
|
NM_015046.7(SETX):c.4517T>C (p.Met1506Thr)
|
rs199974622
|
|
NM_015046.7(SETX):c.4600G>C (p.Asp1534His)
|
rs746807833
|
|
NM_015046.7(SETX):c.4679A>G (p.Asn1560Ser)
|
rs2131430572
|
|
NM_015046.7(SETX):c.4698A>C (p.Pro1566=)
|
rs2131430376
|
|
NM_015046.7(SETX):c.4739G>A (p.Arg1580His)
|
|
|
NM_015046.7(SETX):c.5328A>C (p.Gln1776His)
|
rs1589702061
|
|
NM_015046.7(SETX):c.5549-5G>A
|
|
|
NM_015046.7(SETX):c.5645C>A (p.Ser1882Tyr)
|
|
|
NM_015046.7(SETX):c.5833G>C (p.Ala1945Pro)
|
|
|
NM_015046.7(SETX):c.58C>T (p.Arg20Cys)
|
|
|
NM_015046.7(SETX):c.5956A>T (p.Arg1986Trp)
|
rs868436982
|
|
NM_015046.7(SETX):c.6083G>A (p.Cys2028Tyr)
|
|
|
NM_015046.7(SETX):c.6179G>C (p.Ser2060Thr)
|
|
|
NM_015046.7(SETX):c.6536T>C (p.Ile2179Thr)
|
rs1366270093
|
|
NM_015046.7(SETX):c.6546+5G>C
|
rs1564485095
|
|
NM_015046.7(SETX):c.6683C>T (p.Ser2228Leu)
|
rs764541704
|
|
NM_015046.7(SETX):c.668T>A (p.Leu223His)
|
rs1211053963
|
|
NM_015046.7(SETX):c.6778A>T (p.Met2260Leu)
|
rs768334505
|
|
NM_015046.7(SETX):c.6976A>G (p.Ile2326Val)
|
rs751216566
|
|
NM_015046.7(SETX):c.7079A>G (p.Asp2360Gly)
|
|
|
NM_015046.7(SETX):c.7157T>C (p.Ile2386Thr)
|
rs201887051
|
|
NM_015046.7(SETX):c.7163C>G (p.Thr2388Arg)
|
rs765418950
|
|
NM_015046.7(SETX):c.7200-3T>C
|
|
|
NM_015046.7(SETX):c.7317G>C (p.Gln2439His)
|
rs1842567381
|
|
NM_015046.7(SETX):c.7516G>A (p.Ala2506Thr)
|
rs1160553456
|
|
NM_015046.7(SETX):c.7568C>T (p.Thr2523Ile)
|
|
|
NM_015046.7(SETX):c.7628A>T (p.Lys2543Met)
|
|
|
NM_015046.7(SETX):c.7657A>G (p.Ile2553Val)
|
rs546828646
|
|
NM_015046.7(SETX):c.7660T>C (p.Phe2554Leu)
|
rs368269464
|
|
NM_015046.7(SETX):c.7708CCT[1] (p.Pro2571del)
|
rs770590408
|
|
NM_015046.7(SETX):c.785A>G (p.Lys262Arg)
|
rs770255148
|
|
NM_015046.7(SETX):c.838+4A>G
|
rs1847472277
|
|
NM_015046.7(SETX):c.973A>G (p.Asn325Asp)
|
|
|
NM_015087.5(SPART):c.1213T>G (p.Cys405Gly)
|
|
|
NM_015087.5(SPART):c.1309G>T (p.Gly437Cys)
|
rs139819321
|
|
NM_015087.5(SPART):c.469G>A (p.Ala157Thr)
|
|
|
NM_015284.3(SZT2):c.4230+4_4230+7dup
|
|
|
NM_015295.3(SMCHD1):c.1916_1918del (p.Gly639del)
|
rs1598342592
|
|
NM_015295.3(SMCHD1):c.2688T>G (p.Ser896=)
|
|
|
NM_015295.3(SMCHD1):c.296T>C (p.Leu99Pro)
|
rs1598284093
|
|
NM_015295.3(SMCHD1):c.3099T>C (p.Ser1033=)
|
|
|
NM_015295.3(SMCHD1):c.4847-1G>T
|
|
|
NM_015295.3(SMCHD1):c.5164G>A (p.Val1722Ile)
|
rs2075998748
|
|
NM_015346.4(ZFYVE26):c.1958C>T (p.Pro653Leu)
|
rs1566893050
|
|
NM_015346.4(ZFYVE26):c.2021G>A (p.Gly674Asp)
|
|
|
NM_015346.4(ZFYVE26):c.2173C>T (p.Arg725Cys)
|
|
|
NM_015346.4(ZFYVE26):c.2218C>T (p.His740Tyr)
|
|
|
NM_015346.4(ZFYVE26):c.2339G>A (p.Arg780Gln)
|
|
|
NM_015346.4(ZFYVE26):c.2495C>A (p.Pro832Gln)
|
|
|
NM_015346.4(ZFYVE26):c.3173G>A (p.Arg1058Gln)
|
|
|
NM_015346.4(ZFYVE26):c.3346G>T (p.Ala1116Ser)
|
rs1566884500
|
|
NM_015346.4(ZFYVE26):c.3523G>A (p.Asp1175Asn)
|
|
|
NM_015346.4(ZFYVE26):c.5386G>A (p.Glu1796Lys)
|
|
|
NM_015346.4(ZFYVE26):c.5584C>T (p.Arg1862Cys)
|
|
|
NM_015346.4(ZFYVE26):c.6479A>T (p.Tyr2160Phe)
|
|
|
NM_015346.4(ZFYVE26):c.7081C>A (p.Pro2361Thr)
|
|
|
NM_015346.4(ZFYVE26):c.7348G>A (p.Ala2450Thr)
|
|
|
NM_015443.4(KANSL1):c.205A>G (p.Lys69Glu)
|
|
|
NM_015443.4(KANSL1):c.760T>G (p.Ser254Ala)
|
rs780074451
|
|
NM_015488.5(PNKD):c.725C>G (p.Pro242Arg)
|
rs1559533187
|
|
NM_015559.3(SETBP1):c.3294C>G (p.Asn1098Lys)
|
|
|
NM_015634.4(KIFBP):c.19G>T (p.Ala7Ser)
|
rs1843307363
|
|
NM_015634.4(KIFBP):c.517A>G (p.Met173Val)
|
rs200596309
|
|
NM_015634.4(KIFBP):c.541C>T (p.Leu181Phe)
|
|
|
NM_015915.5(ATL1):c.1040T>C (p.Met347Thr)
|
rs1595620366
|
|
NM_015915.5(ATL1):c.1244G>A (p.Arg415Gln)
|
rs397514712
|
|
NM_015915.5(ATL1):c.1322T>G (p.Ile441Ser)
|
rs2039541164
|
|
NM_015915.5(ATL1):c.754A>T (p.Asn252Tyr)
|
rs2140226902
|
|
NM_016156.6(MTMR2):c.1770+7_1770+19delinsC
|
rs1555056865
|
|
NM_016156.6(MTMR2):c.1811G>A (p.Arg604Gln)
|
|
|
NM_016156.6(MTMR2):c.62G>T (p.Ser21Ile)
|
|
|
NM_016239.4(MYO15A):c.3080C>T (p.Thr1027Ile)
|
rs1256708810
|
|
NM_016239.4(MYO15A):c.3259G>A (p.Ala1087Thr)
|
|
|
NM_016239.4(MYO15A):c.9985G>A (p.Val3329Met)
|
rs1597820494
|
|
NM_016341.4(PLCE1):c.2032A>G (p.Met678Val)
|
rs201422605
|
|
NM_016356.5(DCDC2):c.117G>A (p.Lys39=)
|
rs1760499891
|
|
NM_016373.4(WWOX):c.1180G>A (p.Ala394Thr)
|
rs767286260
|
|
NM_016373.4(WWOX):c.562C>A (p.Arg188Ser)
|
rs199511589
|
|
NM_016373.4(WWOX):c.711C>G (p.Phe237Leu)
|
rs769589145
|
|
NM_016373.4(WWOX):c.733G>A (p.Asp245Asn)
|
|
|
NM_016373.4(WWOX):c.968C>G (p.Pro323Arg)
|
rs1567570468
|
|
NM_017433.5(MYO3A):c.1935G>T (p.Glu645Asp)
|
rs745768108
|
|
NM_017534.6(MYH2):c.5129A>G (p.Gln1710Arg)
|
rs2142291882
|
|
NM_017668.3(NDE1):c.635T>G (p.Val212Gly)
|
rs1567653609
|
|
NM_017739.4(POMGNT1):c.1924A>G (p.Ile642Val)
|
rs757749808
|
|
NM_017739.4(POMGNT1):c.1924A>T (p.Ile642Phe)
|
rs757749808
|
|
NM_017780.4(CHD7):c.3778G>A (p.Gly1260Ser)
|
rs1586405837
|
|
NM_017780.4(CHD7):c.5108C>T (p.Thr1703Ile)
|
rs1236442873
|
|
NM_017780.4(CHD7):c.8076+1G>C
|
rs1563671108
|
|
NM_017866.6(TMEM70):c.445G>C (p.Gly149Arg)
|
|
|
NM_018075.5(ANO10):c.*10G>A
|
|
|
NM_018075.5(ANO10):c.1050C>A (p.Ser350Arg)
|
rs143141504
|
|
NM_018075.5(ANO10):c.1137T>C (p.Tyr379=)
|
|
|
NM_018075.5(ANO10):c.1260C>T (p.Ala420=)
|
rs1365986557
|
|
NM_018075.5(ANO10):c.1315A>G (p.Thr439Ala)
|
rs1559701894
|
|
NM_018075.5(ANO10):c.1429A>G (p.Thr477Ala)
|
|
|
NM_018075.5(ANO10):c.158_169dup (p.Arg53_Leu56dup)
|
rs761124350
|
|
NM_018075.5(ANO10):c.1724G>A (p.Gly575Glu)
|
rs865842244
|
|
NM_018075.5(ANO10):c.1753C>A (p.Pro585Thr)
|
|
|
NM_018075.5(ANO10):c.1853G>A (p.Arg618Gln)
|
|
|
NM_018075.5(ANO10):c.1866G>A (p.Met622Ile)
|
|
|
NM_018075.5(ANO10):c.1915-5883G>C
|
|
|
NM_018075.5(ANO10):c.341A>G (p.Asn114Ser)
|
|
|
NM_018075.5(ANO10):c.412A>G (p.Lys138Glu)
|
|
|
NM_018075.5(ANO10):c.45C>T (p.Phe15=)
|
|
|
NM_018075.5(ANO10):c.488C>T (p.Thr163Met)
|
|
|
NM_018075.5(ANO10):c.532G>A (p.Ala178Thr)
|
|
|
NM_018075.5(ANO10):c.602G>A (p.Arg201His)
|
|
|
NM_018075.5(ANO10):c.712G>C (p.Glu238Gln)
|
|
|
NM_018075.5(ANO10):c.86A>G (p.Glu29Gly)
|
|
|
NM_018075.5(ANO10):c.946C>T (p.Leu316=)
|
|
|
NM_018075.5(ANO10):c.966G>A (p.Val322=)
|
|
|
NM_018105.3(THAP1):c.505C>G (p.Arg169Gly)
|
rs1131691345
|
|
NM_018109.4(MTPAP):c.1012G>A (p.Glu338Lys)
|
rs1564519374
|
|
NM_018109.4(MTPAP):c.1134C>A (p.Phe378Leu)
|
|
|
NM_018109.4(MTPAP):c.1228G>T (p.Asp410Tyr)
|
|
|
NM_018109.4(MTPAP):c.1255T>G (p.Cys419Gly)
|
rs17857517
|
|
NM_018109.4(MTPAP):c.1387-1G>A
|
rs1840632482
|
|
NM_018109.4(MTPAP):c.1624A>G (p.Thr542Ala)
|
|
|
NM_018109.4(MTPAP):c.1667A>C (p.Asn556Thr)
|
rs1415093650
|
|
NM_018109.4(MTPAP):c.1693A>G (p.Arg565Gly)
|
|
|
NM_018109.4(MTPAP):c.247C>T (p.Pro83Ser)
|
rs372003224
|
|
NM_018109.4(MTPAP):c.396T>A (p.His132Gln)
|
|
|
NM_018109.4(MTPAP):c.556-10G>A
|
rs777464633
|
|
NM_018109.4(MTPAP):c.888C>A (p.Gly296=)
|
rs561168193
|
|
NM_018109.4(MTPAP):c.983C>T (p.Thr328Met)
|
rs759258615
|
|
NM_018136.5(ASPM):c.1196A>T (p.Asp399Val)
|
rs1557965585
|
|
NM_018136.5(ASPM):c.3173A>C (p.Asp1058Ala)
|
rs1330310833
|
|
NM_018136.5(ASPM):c.3223C>G (p.His1075Asp)
|
rs763084553
|
|
NM_018136.5(ASPM):c.3326A>G (p.Tyr1109Cys)
|
rs1557956580
|
|
NM_018136.5(ASPM):c.3566C>T (p.Ser1189Phe)
|
rs143805893
|
|
NM_018136.5(ASPM):c.505G>A (p.Val169Ile)
|
rs1557966244
|
|
NM_018136.5(ASPM):c.6711C>A (p.Asn2237Lys)
|
rs755151801
|
|
NM_018136.5(ASPM):c.9637-10T>A
|
rs1558322767
|
|
NM_018136.5(ASPM):c.9C>A (p.Asn3Lys)
|
rs373636557
|
|
NM_018319.4(TDP1):c.1317G>T (p.Leu439Phe)
|
rs138711165
|
|
NM_018319.4(TDP1):c.1383C>T (p.Pro461=)
|
rs1433982054
|
|
NM_018319.4(TDP1):c.1557G>C (p.Lys519Asn)
|
rs1566913776
|
|
NM_018319.4(TDP1):c.1611C>G (p.Tyr537Ter)
|
rs772318046
|
|
NM_018319.4(TDP1):c.1735G>A (p.Glu579Lys)
|
|
|
NM_018319.4(TDP1):c.1754-9T>C
|
|
|
NM_018319.4(TDP1):c.1819C>G (p.Pro607Ala)
|
|
|
NM_018319.4(TDP1):c.341_342del (p.Lys114fs)
|
rs769278668
|
|
NM_018319.4(TDP1):c.34A>T (p.Ile12Leu)
|
rs1566842225
|
|
NM_018319.4(TDP1):c.365_366delinsTA (p.Gly122Val)
|
rs2139944180
|
|
NM_018319.4(TDP1):c.655T>C (p.Phe219Leu)
|
|
|
NM_018319.4(TDP1):c.657C>A (p.Phe219Leu)
|
|
|
NM_018319.4(TDP1):c.982A>G (p.Met328Val)
|
rs1895351840
|
|
NM_018429.3(BDP1):c.3877_3880del (p.Arg1293fs)
|
rs776007071
|
|
NM_018429.3(BDP1):c.5972C>G (p.Thr1991Arg)
|
rs1439170098
|
|
NM_018429.3(BDP1):c.7573G>A (p.Val2525Ile)
|
rs568058725
|
|
NM_018451.5(CENPJ):c.2140A>G (p.Ile714Val)
|
|
|
NM_018941.4(CLN8):c.347T>C (p.Phe116Ser)
|
rs1563108002
|
|
NM_018943.3(TUBA8):c.554A>G (p.Tyr185Cys)
|
rs758782368
|
|
NM_018972.4(GDAP1):c.310+3A>G
|
rs1586795495
|
|
NM_018972.4(GDAP1):c.464A>G (p.Tyr155Cys)
|
|
|
NM_018972.4(GDAP1):c.466G>T (p.Ala156Ser)
|
rs1809302381
|
|
NM_018972.4(GDAP1):c.931G>A (p.Val311Met)
|
rs1586807556
|
|
NM_018972.4(GDAP1):c.977T>A (p.Val326Asp)
|
rs1416176817
|
|
NM_018979.4(WNK1):c.3991C>T (p.Pro1331Ser)
|
rs200513331
|
|
NM_020117.11(LARS1):c.173G>A (p.Arg58His)
|
|
|
NM_020247.5(COQ8A):c.1008C>G (p.Phe336Leu)
|
|
|
NM_020247.5(COQ8A):c.1012G>A (p.Ala338Thr)
|
|
|
NM_020247.5(COQ8A):c.1221C>G (p.Asp407Glu)
|
rs1254419880
|
|
NM_020247.5(COQ8A):c.1257-6A>C
|
|
|
NM_020247.5(COQ8A):c.1390C>T (p.Arg464Trp)
|
|
|
NM_020247.5(COQ8A):c.1452C>G (p.Phe484Leu)
|
|
|
NM_020247.5(COQ8A):c.150G>T (p.Gln50His)
|
rs2148052080
|
|
NM_020247.5(COQ8A):c.1670A>G (p.Asp557Gly)
|
|
|
NM_020247.5(COQ8A):c.1676A>C (p.His559Pro)
|
rs902464326
|
|
NM_020247.5(COQ8A):c.1715C>T (p.Ser572Phe)
|
rs1572089312
|
|
NM_020247.5(COQ8A):c.1805C>T (p.Pro602Leu)
|
rs61995958
|
|
NM_020247.5(COQ8A):c.1813G>A (p.Glu605Lys)
|
rs1572089727
|
|
NM_020247.5(COQ8A):c.1830C>T (p.His610=)
|
|
|
NM_020247.5(COQ8A):c.1936C>A (p.Gln646Lys)
|
rs555171534
|
|
NM_020247.5(COQ8A):c.341G>A (p.Gly114Asp)
|
|
|
NM_020247.5(COQ8A):c.427G>A (p.Gly143Arg)
|
rs760566419
|
|
NM_020247.5(COQ8A):c.521C>T (p.Thr174Ile)
|
|
|
NM_020247.5(COQ8A):c.578A>G (p.His193Arg)
|
|
|
NM_020247.5(COQ8A):c.595G>A (p.Glu199Lys)
|
|
|
NM_020247.5(COQ8A):c.712C>T (p.Arg238Cys)
|
|
|
NM_020247.5(COQ8A):c.921G>A (p.Met307Ile)
|
rs2148126881
|
|
NM_020247.5(COQ8A):c.949AAC[1] (p.Asn318del)
|
rs759061098
|
|
NM_020320.5(RARS2):c.-2A>G
|
rs201150141
|
|
NM_020451.3(SELENON):c.1112G>A (p.Gly371Asp)
|
rs745886248
|
|
NM_020451.3(SELENON):c.1148GCA[1] (p.Ser384del)
|
rs770747626
|
|
NM_020822.3(KCNT1):c.1065G>A (p.Glu355=)
|
rs1832162751
|
|
NM_020822.3(KCNT1):c.1921G>A (p.Glu641Lys)
|
rs1564371427
|
|
NM_020822.3(KCNT1):c.2882G>A (p.Arg961His)
|
rs200694691
|
|
NM_020822.3(KCNT1):c.2896G>A (p.Ala966Thr)
|
|
|
NM_020822.3(KCNT1):c.385C>G (p.Leu129Val)
|
rs1402206752
|
|
NM_020822.3(KCNT1):c.82_85delinsC (p.Glu28_Phe29delinsLeu)
|
rs1554760875
|
|
NM_020919.4(ALS2):c.1185GGT[1] (p.Val397del)
|
|
|
NM_020919.4(ALS2):c.1737+7G>A
|
|
|
NM_020919.4(ALS2):c.1738-4A>G
|
|
|
NM_020919.4(ALS2):c.1960A>C (p.Ser654Arg)
|
rs61757690
|
|
NM_020919.4(ALS2):c.2180G>A (p.Gly727Asp)
|
|
|
NM_020919.4(ALS2):c.226G>A (p.Glu76Lys)
|
rs2106090105
|
|
NM_020919.4(ALS2):c.2919C>G (p.Gly973=)
|
rs2106008091
|
|
NM_020919.4(ALS2):c.3047C>T (p.Pro1016Leu)
|
rs776807292
|
|
NM_020919.4(ALS2):c.3315A>G (p.Lys1105=)
|
rs2106003724
|
|
NM_020919.4(ALS2):c.3346A>G (p.Ser1116Gly)
|
|
|
NM_020919.4(ALS2):c.3849A>C (p.Gly1283=)
|
rs2105982146
|
|
NM_020919.4(ALS2):c.3981C>T (p.Thr1327=)
|
rs1190350825
|
|
NM_020919.4(ALS2):c.4171G>A (p.Val1391Ile)
|
rs1420843762
|
|
NM_020919.4(ALS2):c.4368G>T (p.Gly1456=)
|
|
|
NM_020919.4(ALS2):c.4403+4A>G
|
rs1559031941
|
|
NM_020919.4(ALS2):c.45G>C (p.Lys15Asn)
|
rs2106102596
|
|
NM_020919.4(ALS2):c.461A>G (p.Gln154Arg)
|
rs1693768928
|
|
NM_021008.4(DEAF1):c.809G>A (p.Gly270Glu)
|
|
|
NM_021098.3(CACNA1H):c.1017C>G (p.Asn339Lys)
|
rs753307543
|
|
NM_021098.3(CACNA1H):c.1754del (p.Pro585fs)
|
rs2141260547
|
|
NM_021098.3(CACNA1H):c.1973AGA[1] (p.Lys659del)
|
rs753052647
|
|
NM_021098.3(CACNA1H):c.3154+5G>C
|
rs764360814
|
|
NM_021098.3(CACNA1H):c.3331G>C (p.Gly1111Arg)
|
rs59529743
|
|
NM_021098.3(CACNA1H):c.4039-10C>A
|
rs764056510
|
|
NM_021098.3(CACNA1H):c.412-5C>G
|
rs577701046
|
|
NM_021098.3(CACNA1H):c.442G>A (p.Ala148Thr)
|
rs1966873069
|
|
NM_021098.3(CACNA1H):c.5638A>T (p.Ile1880Phe)
|
rs369689966
|
|
NM_021098.3(CACNA1H):c.637G>T (p.Val213Leu)
|
rs772154386
|
|
NM_021098.3(CACNA1H):c.750G>C (p.Gln250His)
|
rs1414057702
|
|
NM_021116.4(ADCY1):c.1310A>G (p.Lys437Arg)
|
rs1250488516
|
|
NM_021625.5(TRPV4):c.1367A>G (p.Asn456Ser)
|
|
|
NM_021625.5(TRPV4):c.2256G>A (p.Leu752=)
|
rs2136431404
|
|
NM_021625.5(TRPV4):c.2273C>G (p.Ser758Cys)
|
rs778014423
|
|
NM_021625.5(TRPV4):c.24C>A (p.Pro8=)
|
rs1891762098
|
|
NM_021625.5(TRPV4):c.799C>A (p.Gln267Lys)
|
rs1323996959
|
|
NM_021830.5(TWNK):c.1099A>G (p.Ile367Val)
|
|
|
NM_021830.5(TWNK):c.1101C>G (p.Ile367Met)
|
|
|
NM_021830.5(TWNK):c.1120C>G (p.Arg374Gly)
|
|
|
NM_021830.5(TWNK):c.1440C>T (p.Asp480=)
|
rs1564809336
|
|
NM_021830.5(TWNK):c.1511C>T (p.Ala504Val)
|
|
|
NM_021912.5(GABRB3):c.44C>G (p.Ser15Cys)
|
rs121913126
|
|
NM_021942.6(TRAPPC11):c.1972T>A (p.Cys658Ser)
|
rs1215126741
|
|
NM_021942.6(TRAPPC11):c.2269C>T (p.His757Tyr)
|
rs1736372009
|
|
NM_021942.6(TRAPPC11):c.2324C>G (p.Thr775Ser)
|
rs1579205735
|
|
NM_021942.6(TRAPPC11):c.2574T>C (p.Ser858=)
|
|
|
NM_021942.6(TRAPPC11):c.69G>A (p.Thr23=)
|
|
|
NM_021942.6(TRAPPC11):c.835T>C (p.Cys279Arg)
|
|
|
NM_021971.4(GMPPB):c.761T>G (p.Val254Gly)
|
|
|
NM_022089.4(ATP13A2):c.*9C>A
|
rs773484997
|
|
NM_022089.4(ATP13A2):c.3222G>A (p.Pro1074=)
|
rs372993383
|
|
NM_022089.4(ATP13A2):c.940C>T (p.Pro314Ser)
|
rs752006308
|
|
NM_022124.6(CDH23):c.5476C>T (p.Arg1826Trp)
|
rs753656026
|
|
NM_022168.4(IFIH1):c.682A>T (p.Thr228Ser)
|
|
|
NM_022464.5(SIL1):c.-10G>T
|
rs199951755
|
|
NM_022464.5(SIL1):c.1036G>A (p.Ala346Thr)
|
rs377150029
|
|
NM_022464.5(SIL1):c.1094G>A (p.Arg365His)
|
|
|
NM_022464.5(SIL1):c.1100T>C (p.Val367Ala)
|
|
|
NM_022464.5(SIL1):c.1168G>A (p.Glu390Lys)
|
|
|
NM_022464.5(SIL1):c.1177G>T (p.Ala393Ser)
|
|
|
NM_022464.5(SIL1):c.1238G>A (p.Arg413His)
|
|
|
NM_022464.5(SIL1):c.1255G>A (p.Gly419Ser)
|
rs398124389
|
|
NM_022464.5(SIL1):c.1358T>C (p.Val453Ala)
|
|
|
NM_022464.5(SIL1):c.135G>A (p.Lys45=)
|
|
|
NM_022464.5(SIL1):c.221A>C (p.His74Pro)
|
|
|
NM_022464.5(SIL1):c.475C>T (p.Arg159Trp)
|
|
|
NM_022464.5(SIL1):c.527T>C (p.Val176Ala)
|
rs1768669040
|
|
NM_022464.5(SIL1):c.715G>C (p.Glu239Gln)
|
rs2150428182
|
|
NM_022464.5(SIL1):c.74G>A (p.Cys25Tyr)
|
rs1750782507
|
|
NM_022464.5(SIL1):c.836C>T (p.Thr279Met)
|
rs535287958
|
|
NM_022464.5(SIL1):c.903C>G (p.Pro301=)
|
rs1561801612
|
|
NM_022464.5(SIL1):c.913C>A (p.Arg305=)
|
rs758782317
|
|
NM_022464.5(SIL1):c.9C>G (p.Pro3=)
|
|
|
NM_022489.4(INF2):c.608C>A (p.Ala203Asp)
|
rs1595166203
|
|
NM_022772.4(EPS8L2):c.1413G>A (p.Pro471=)
|
rs369906914
|
|
NM_023110.3(FGFR1):c.1285-3C>A
|
|
|
NM_023110.3(FGFR1):c.1934C>T (p.Ala645Val)
|
rs1586112776
|
|
NM_023110.3(FGFR1):c.569G>T (p.Trp190Leu)
|
rs1554567027
|
|
NM_024009.3(GJB3):c.196_198del (p.Asp66del)
|
rs786200895
|
|
NM_024301.5(FKRP):c.1000_1017dup (p.Glu334_Arg339dup)
|
rs1599938256
|
|
NM_024301.5(FKRP):c.1195G>A (p.Glu399Lys)
|
rs1230638385
|
|
NM_024301.5(FKRP):c.291C>T (p.Pro97=)
|
rs1215872713
|
|
NM_024301.5(FKRP):c.930G>A (p.Glu310=)
|
|
|
NM_024306.5(FA2H):c.20C>T (p.Pro7Leu)
|
rs1962978331
|
|
NM_024306.5(FA2H):c.678G>C (p.Trp226Cys)
|
rs1555537615
|
|
NM_024306.5(FA2H):c.892G>A (p.Gly298Ser)
|
|
|
NM_024411.5(PDYN):c.149A>G (p.Gln50Arg)
|
|
|
NM_024411.5(PDYN):c.275A>G (p.Tyr92Cys)
|
|
|
NM_024411.5(PDYN):c.405C>A (p.Asp135Glu)
|
rs147181436
|
|
NM_024411.5(PDYN):c.527G>A (p.Gly176Glu)
|
rs1472967766
|
|
NM_024411.5(PDYN):c.565G>A (p.Val189Met)
|
|
|
NM_024411.5(PDYN):c.658_659del (p.Trp220fs)
|
rs748307861
|
|
NM_024411.5(PDYN):c.68T>G (p.Leu23Arg)
|
|
|
NM_024577.4(SH3TC2):c.1196T>G (p.Phe399Cys)
|
rs763564639
|
|
NM_024577.4(SH3TC2):c.1472_1474del (p.Phe491del)
|
|
|
NM_024577.4(SH3TC2):c.1473C>A (p.Phe491Leu)
|
|
|
NM_024577.4(SH3TC2):c.1922G>T (p.Arg641Leu)
|
rs199991156
|
|
NM_024577.4(SH3TC2):c.2339T>C (p.Leu780Pro)
|
|
|
NM_024577.4(SH3TC2):c.2923C>G (p.Pro975Ala)
|
rs1554121529
|
|
NM_024577.4(SH3TC2):c.3433G>C (p.Ala1145Pro)
|
rs141715248
|
|
NM_024577.4(SH3TC2):c.3433G>T (p.Ala1145Ser)
|
rs141715248
|
|
NM_024596.5(MCPH1):c.1403C>A (p.Thr468Asn)
|
rs548329168
|
|
NM_024665.7(TBL1XR1):c.1174A>G (p.Lys392Glu)
|
rs1576982869
|
|
NM_024665.7(TBL1XR1):c.1418C>T (p.Thr473Ile)
|
rs1560091765
|
|
NM_024678.6(NARS2):c.496A>G (p.Ile166Val)
|
|
|
NM_024740.2(ALG9):c.1768T>C (p.Phe590Leu)
|
|
|
NM_024884.3(L2HGDH):c.1099T>C (p.Tyr367His)
|
rs1222573122
|
|
NM_025137.3(SPG11):c.7151+4_7151+7dup
|
|
|
NM_025137.4(SPG11):c.1121C>A (p.Ser374Tyr)
|
rs144403346
|
|
NM_025137.4(SPG11):c.5440A>T (p.Asn1814Tyr)
|
rs1567138592
|
|
NM_025137.4(SPG11):c.6343+5G>T
|
rs756302161
|
|
NM_025243.4(SLC19A3):c.*8G>T
|
rs188532608
|
|
NM_025243.4(SLC19A3):c.896T>C (p.Val299Ala)
|
rs1559249124
|
|
NM_030665.4(RAI1):c.1915C>T (p.Pro639Ser)
|
rs1030615093
|
|
NM_030665.4(RAI1):c.3112A>G (p.Met1038Val)
|
|
|
NM_030665.4(RAI1):c.3430A>G (p.Met1144Val)
|
rs1198803613
|
|
NM_030665.4(RAI1):c.3769G>T (p.Asp1257Tyr)
|
|
|
NM_030962.4(SBF2):c.1576G>C (p.Val526Leu)
|
|
|
NM_030962.4(SBF2):c.1618G>T (p.Val540Leu)
|
rs201806063
|
|
NM_030962.4(SBF2):c.1622C>T (p.Thr541Met)
|
rs372109447
|
|
NM_030962.4(SBF2):c.2203C>G (p.Leu735Val)
|
|
|
NM_030962.4(SBF2):c.2418A>G (p.Ser806=)
|
rs1295154018
|
|
NM_030962.4(SBF2):c.2632C>G (p.Leu878Val)
|
rs1256780818
|
|
NM_030962.4(SBF2):c.2947G>A (p.Ala983Thr)
|
|
|
NM_030962.4(SBF2):c.3322C>G (p.Gln1108Glu)
|
rs1855969532
|
|
NM_030962.4(SBF2):c.3445C>G (p.Leu1149Val)
|
|
|
NM_030962.4(SBF2):c.3454A>G (p.Ser1152Gly)
|
|
|
NM_030962.4(SBF2):c.3456-5T>A
|
|
|
NM_030962.4(SBF2):c.3632C>A (p.Ser1211Tyr)
|
|
|
NM_030962.4(SBF2):c.3652+6C>T
|
rs1057524041
|
|
NM_030962.4(SBF2):c.3841A>G (p.Thr1281Ala)
|
|
|
NM_030962.4(SBF2):c.4910A>G (p.Asp1637Gly)
|
rs2133858414
|
|
NM_030962.4(SBF2):c.4950G>A (p.Glu1650=)
|
rs1852466744
|
|
NM_030962.4(SBF2):c.5017GAA[1] (p.Glu1674del)
|
rs572571832
|
|
NM_030962.4(SBF2):c.520T>C (p.Phe174Leu)
|
|
|
NM_030962.4(SBF2):c.910G>A (p.Glu304Lys)
|
rs781039677
|
|
NM_030962.4(SBF2):c.975+3A>G
|
rs1947797052
|
|
NM_031443.4(CCM2):c.458T>G (p.Val153Gly)
|
rs1798685835
|
|
NM_031475.3(ESPN):c.667G>C (p.Val223Leu)
|
rs1456264982
|
|
NM_032119.4(ADGRV1):c.11905C>T (p.Pro3969Ser)
|
rs1581019828
|
|
NM_032119.4(ADGRV1):c.16780C>A (p.Arg5594Ser)
|
rs376062087
|
|
NM_032119.4(ADGRV1):c.18674G>T (p.Ser6225Ile)
|
rs1796208718
|
|
NM_032119.4(ADGRV1):c.5785G>T (p.Ala1929Ser)
|
rs41311335
|
|
NM_032119.4(ADGRV1):c.9052T>C (p.Phe3018Leu)
|
rs769373495
|
|
NM_032119.4(ADGRV1):c.9255C>A (p.Phe3085Leu)
|
rs727503077
|
|
NM_032119.4(ADGRV1):c.9906+9C>T
|
|
|
NM_032409.3(PINK1):c.1108G>A (p.Val370Met)
|
rs1570405073
|
|
NM_032409.3(PINK1):c.1183G>A (p.Gly395Ser)
|
|
|
NM_032634.4(PIGO):c.2337C>T (p.Val779=)
|
rs1563995990
|
|
NM_032634.4(PIGO):c.3259C>T (p.Gln1087Ter)
|
rs768738759
|
|
NM_032634.4(PIGO):c.547A>G (p.Lys183Glu)
|
rs1564000883
|
|
NM_032737.4(LMNB2):c.1711-6G>C
|
|
|
NM_033056.4(PCDH15):c.5343del (p.Ser1782fs)
|
rs1554820009
|
|
NM_033071.3(SYNE1):c.17995_17997delGAG
|
|
|
NM_033109.5(PNPT1):c.1925_1927del (p.Val642del)
|
rs1572796197
|
|
NM_033305.3(VPS13A):c.1330G>C (p.Glu444Gln)
|
|
|
NM_033305.3(VPS13A):c.2288A>G (p.Lys763Arg)
|
rs749375820
|
|
NM_033305.3(VPS13A):c.3243T>C (p.Asp1081=)
|
|
|
NM_033305.3(VPS13A):c.3637A>G (p.Ile1213Val)
|
rs1172751806
|
|
NM_033305.3(VPS13A):c.4165C>G (p.Leu1389Val)
|
|
|
NM_033305.3(VPS13A):c.7207A>G (p.Thr2403Ala)
|
|
|
NM_033305.3(VPS13A):c.9475-3_9500dup
|
rs2131675925
|
|
NM_033337.3(CAV3):c.139G>A (p.Glu47Lys)
|
rs116840793
|
|
NM_033337.3(CAV3):c.241G>A (p.Gly81Ser)
|
rs1708134992
|
|
NM_033337.3(CAV3):c.266G>A (p.Gly89Asp)
|
rs1575477762
|
|
NM_033337.3(CAV3):c.277G>T (p.Ala93Ser)
|
rs28936686
|
|
NM_033337.3(CAV3):c.454del (p.Ter152LysextTer?)
|
rs1575478107
|
|
NM_033337.3(CAV3):c.91A>T (p.Asn31Tyr)
|
|
|
NM_033380.3(COL4A5):c.1032+5G>T
|
rs104886315
|
|
NM_033380.3(COL4A5):c.1033-3A>G
|
rs2066339277
|
|
NM_033380.3(COL4A5):c.2003C>T (p.Pro668Leu)
|
|
|
NM_033380.3(COL4A5):c.2019A>T (p.Arg673Ser)
|
rs1569494902
|
|
NM_033380.3(COL4A5):c.2509+5G>C
|
rs1556418297
|
|
NM_033380.3(COL4A5):c.4568C>G (p.Pro1523Arg)
|
rs1603326447
|
|
NM_033380.3(COL4A5):c.465+2_465+3dup
|
rs1569488954
|
|
NM_033380.3(COL4A5):c.466-13T>A
|
rs1569489302
|
|
NM_033380.3(COL4A5):c.646-6C>G
|
rs200151467
|
|
NM_033380.3(COL4A5):c.81G>A (p.Ala27=)
|
rs1569469478
|
|
NM_033641.4(COL4A6):c.1305_1313dup (p.432GPP[4])
|
rs1050017866
|
|
NM_058246.4(DNAJB6):c.-8C>G
|
rs754703559
|
|
NM_130384.3(ATRIP):c.*966G>A
|
rs1187994319
|
|
NM_130811.4(SNAP25):c.164-154C>A
|
rs1568623929
|
|
NM_130837.3(OPA1):c.1136G>A (p.Arg379His)
|
rs1475478496
|
|
NM_130837.3(OPA1):c.1466T>C (p.Leu489Pro)
|
rs1553877946
|
|
NM_130837.3(OPA1):c.1480G>A (p.Gly494Arg)
|
rs2109046811
|
|
NM_130837.3(OPA1):c.1666G>A (p.Val556Ile)
|
rs1553878564
|
|
NM_130837.3(OPA1):c.1722AGA[1] (p.Glu576del)
|
rs794727173
|
|
NM_130837.3(OPA1):c.1834_1836del (p.Arg612del)
|
rs1560380246
|
|
NM_130837.3(OPA1):c.2126A>G (p.Asp709Gly)
|
rs2109139343
|
|
NM_130837.3(OPA1):c.2179-7A>G
|
rs2109162943
|
|
NM_130837.3(OPA1):c.2218A>C (p.Met740Leu)
|
|
|
NM_130837.3(OPA1):c.2987_2992del (p.Lys996_Val997del)
|
rs2109460418
|
|
NM_130837.3(OPA1):c.556+3A>G
|
|
|
NM_130839.5(UBE3A):c.2419A>G (p.Thr807Ala)
|
rs374519603
|
|
NM_130839.5(UBE3A):c.901A>G (p.Met301Val)
|
rs587783147
|
|
NM_133378.4(TTN):c.37385_37387delAAG
|
rs759525338
|
|
NM_133433.4(NIPBL):c.2841_2843del (p.Gly948del)
|
rs1369177636
|
|
NM_133433.4(NIPBL):c.3467T>C (p.Met1156Thr)
|
rs914252297
|
|
NM_133433.4(NIPBL):c.7867C>G (p.Leu2623Val)
|
rs1030959034
|
|
NM_133642.5(LARGE1):c.1656G>C (p.Lys552Asn)
|
rs138573955
|
|
NM_139343.3(BIN1):c.1264-11_1270del
|
rs776737413
|
|
NM_144498.4(OSBPL2):c.1021A>G (p.Ser341Gly)
|
rs759698256
|
|
NM_144599.5(NIPA1):c.134C>A (p.Thr45Lys)
|
|
|
NM_144599.5(NIPA1):c.13G>T (p.Ala5Ser)
|
rs976686334
|
|
NM_144599.5(NIPA1):c.781G>A (p.Gly261Arg)
|
|
|
NM_144672.4(OTOA):c.1690G>T (p.Ala564Ser)
|
|
|
NM_144672.4(OTOA):c.451C>G (p.Gln151Glu)
|
|
|
NM_145207.3(AFG2A):c.14A>G (p.Lys5Arg)
|
rs1578507400
|
|
NM_145207.3(AFG2A):c.2038G>A (p.Ala680Thr)
|
rs1578710903
|
|
NM_145207.3(AFG2A):c.289-10_289-9insA
|
rs1560786260
|
|
NM_145239.3(PRRT2):c.774G>T (p.Gly258=)
|
rs1900112126
|
|
NM_152296.5(ATP1A3):c.2582T>C (p.Val861Ala)
|
|
|
NM_152564.5(VPS13B):c.11745G>A (p.Glu3915=)
|
|
|
NM_152564.5(VPS13B):c.2816A>G (p.His939Arg)
|
rs1563641697
|
|
NM_152564.5(VPS13B):c.8159T>C (p.Val2720Ala)
|
rs369898130
|
|
NM_152564.5(VPS13B):c.9247A>C (p.Lys3083Gln)
|
|
|
NM_152743.4(BRAT1):c.1267G>A (p.Val423Ile)
|
rs141807337
|
|
NM_152743.4(BRAT1):c.814T>C (p.Phe272Leu)
|
rs1562577958
|
|
NM_153638.4(PANK2):c.61T>C (p.Ser21Pro)
|
rs764119764
|
|
NM_153700.2(STRC):c.1466G>C (p.Ser489Thr)
|
rs1257047735
|
|
NM_153700.2(STRC):c.2344C>T (p.Arg782Cys)
|
rs1332832662
|
|
NM_153700.2(STRC):c.4472G>T (p.Cys1491Phe)
|
rs1482623890
|
|
NM_170707.4(LMNA):c.1268C>T (p.Ser423Phe)
|
|
|
NM_170707.4(LMNA):c.1968+8G>T
|
rs1651883222
|
|
NM_170707.4(LMNA):c.1970G>A (p.Ser657Asn)
|
rs1651905151
|
|
NM_170707.4(LMNA):c.268A>G (p.Lys90Glu)
|
rs1445068583
|
|
NM_170707.4(LMNA):c.41C>A (p.Ala14Glu)
|
rs1256334293
|
|
NM_170707.4(LMNA):c.622A>C (p.Lys208Gln)
|
rs770744765
|
|
NM_170707.4(LMNA):c.807C>G (p.Ala269=)
|
|
|
NM_170707.4(LMNA):c.99G>T (p.Glu33Asp)
|
rs57966821
|
|
NM_172107.4(KCNQ2):c.1688_1689delinsCA (p.Asp563Ala)
|
|
|
NM_172107.4(KCNQ2):c.1757A>C (p.Gln586Pro)
|
rs796052656
|
|
NM_172107.4(KCNQ2):c.2041G>A (p.Asp681Asn)
|
rs1380546879
|
|
NM_172107.4(KCNQ2):c.2377G>A (p.Val793Met)
|
rs377227909
|
|
NM_172107.4(KCNQ2):c.375C>T (p.Ala125=)
|
rs1568944870
|
|
NM_173354.5(SIK1):c.1085C>T (p.Pro362Leu)
|
rs1006861899
|
|
NM_173354.5(SIK1):c.190G>A (p.Asp64Asn)
|
|
|
NM_173477.5(USH1G):c.1137A>C (p.Leu379Phe)
|
rs1292979261
|
|
NM_173500.4(TTBK2):c.1112C>T (p.Ser371Phe)
|
|
|
NM_173500.4(TTBK2):c.112G>A (p.Ala38Thr)
|
|
|
NM_173500.4(TTBK2):c.1200T>C (p.Ala400=)
|
|
|
NM_173500.4(TTBK2):c.1271T>C (p.Ile424Thr)
|
rs1595898962
|
|
NM_173500.4(TTBK2):c.1319T>G (p.Val440Gly)
|
rs1555422978
|
|
NM_173500.4(TTBK2):c.1437T>A (p.Ser479Arg)
|
rs1889887053
|
|
NM_173500.4(TTBK2):c.1439C>A (p.Ala480Glu)
|
rs1238647143
|
|
NM_173500.4(TTBK2):c.1698A>G (p.Thr566=)
|
rs1171245575
|
|
NM_173500.4(TTBK2):c.1973C>T (p.Ala658Val)
|
|
|
NM_173500.4(TTBK2):c.2120C>T (p.Pro707Leu)
|
|
|
NM_173500.4(TTBK2):c.2293C>G (p.Leu765Val)
|
|
|
NM_173500.4(TTBK2):c.2356T>G (p.Ser786Ala)
|
|
|
NM_173500.4(TTBK2):c.2484A>G (p.Thr828=)
|
|
|
NM_173500.4(TTBK2):c.2798T>C (p.Met933Thr)
|
|
|
NM_173500.4(TTBK2):c.3471C>T (p.Ser1157=)
|
|
|
NM_173500.4(TTBK2):c.477T>C (p.Cys159=)
|
|
|
NM_173500.4(TTBK2):c.822G>C (p.Gln274His)
|
rs2140925012
|
|
NM_173500.4(TTBK2):c.934T>A (p.Ser312Thr)
|
|
|
NM_173660.5(DOK7):c.1402G>T (p.Gly468Cys)
|
|
|
NM_173660.5(DOK7):c.1403_1408dup (p.Gly468_Pro469dup)
|
rs762148551
|
|
NM_175875.5(SIX5):c.1852T>C (p.Ser618Pro)
|
rs1600396951
|
|
NM_175914.5(HNF4A):c.1051A>G (p.Met351Val)
|
|
|
NM_175914.5(HNF4A):c.1063G>A (p.Gly355Arg)
|
rs1568741527
|
|
NM_175914.5(HNF4A):c.1259G>A (p.Gly420Glu)
|
rs2063851984
|
|
NM_175914.5(HNF4A):c.1268C>T (p.Pro423Leu)
|
|
|
NM_175914.5(HNF4A):c.1316C>T (p.Ser439Phe)
|
|
|
NM_175914.5(HNF4A):c.292T>C (p.Cys98Arg)
|
|
|
NM_175914.5(HNF4A):c.334C>T (p.Arg112Trp)
|
rs370239205
|
|
NM_175914.5(HNF4A):c.427A>G (p.Ile143Val)
|
rs368759794
|
|
NM_175914.5(HNF4A):c.50-4705G>A
|
|
|
NM_175914.5(HNF4A):c.593T>G (p.Leu198Arg)
|
rs1568735272
|
|
NM_175914.5(HNF4A):c.670+5G>C
|
rs1568735505
|
|
NM_175914.5(HNF4A):c.789G>C (p.Glu263Asp)
|
rs1568736971
|
|
NM_175914.5(HNF4A):c.869G>A (p.Arg290His)
|
rs1191912908
|
|
NM_175914.5(HNF4A):c.925C>A (p.Arg309Ser)
|
rs193922479
|
|
NM_175914.5(HNF4A):c.931C>T (p.Arg311Cys)
|
rs193922480
|
|
NM_175914.5(HNF4A):c.932G>A (p.Arg311His)
|
rs1375557127
|
|
NM_175914.5(HNF4A):c.953T>A (p.Leu318Gln)
|
rs1568741207
|
|
NM_175929.3(FGF14):c.177C>T (p.Gly59=)
|
|
|
NM_175929.3(FGF14):c.46T>A (p.Leu16Ile)
|
rs773941026
|
|
NM_176787.5(PIGN):c.2411_2412delinsAG (p.Ile804Lys)
|
rs1555679237
|
|
NM_176787.5(PIGN):c.2441C>G (p.Ser814Cys)
|
rs1379216492
|
|
NM_177550.5(SLC13A5):c.43G>A (p.Val15Met)
|
rs1223974189
|
|
NM_177550.5(SLC13A5):c.445G>A (p.Val149Met)
|
rs1567622972
|
|
NM_177924.5(ASAH1):c.126-7A>G
|
rs771021569
|
|
NM_177924.5(ASAH1):c.229G>C (p.Val77Leu)
|
rs1185666268
|
|
NM_177924.5(ASAH1):c.326C>A (p.Pro109His)
|
rs556045778
|
|
NM_177924.5(ASAH1):c.88G>T (p.Asp30Tyr)
|
rs200758704
|
|
NM_178335.3(CCDC50):c.194A>G (p.Glu65Gly)
|
rs1576958624
|
|
NM_181882.3(PRX):c.104C>A (p.Ala35Glu)
|
rs138047753
|
|
NM_181882.3(PRX):c.1134C>T (p.Ala378=)
|
|
|
NM_181882.3(PRX):c.1490_1567del (p.Pro497_Leu522del)
|
|
|
NM_181882.3(PRX):c.1523C>T (p.Pro508Leu)
|
|
|
NM_181882.3(PRX):c.1568_1645del (p.Leu523_Leu548del)
|
|
|
NM_181882.3(PRX):c.1791G>A (p.Glu597=)
|
|
|
NM_181882.3(PRX):c.1805A>C (p.Glu602Ala)
|
rs2079439386
|
|
NM_181882.3(PRX):c.1900_1914del (p.629MKLPE[1])
|
rs575492732
|
|
NM_181882.3(PRX):c.2404_2412del (p.Pro802_Met804del)
|
|
|
NM_181882.3(PRX):c.3190C>T (p.Pro1064Ser)
|
rs937051533
|
|
NM_181882.3(PRX):c.3718G>A (p.Glu1240Lys)
|
|
|
NM_181882.3(PRX):c.3722G>A (p.Gly1241Asp)
|
rs139120811
|
|
NM_181882.3(PRX):c.3873C>G (p.Tyr1291Ter)
|
rs765769524
|
|
NM_181882.3(PRX):c.464A>T (p.Asp155Val)
|
rs2079458431
|
|
NM_181882.3(PRX):c.631G>A (p.Ala211Thr)
|
rs112973322
|
|
NM_182914.3(SYNE2):c.10348T>C (p.Trp3450Arg)
|
rs375398029
|
|
NM_182914.3(SYNE2):c.11170T>A (p.Trp3724Arg)
|
rs2097511363
|
|
NM_182914.3(SYNE2):c.12592C>G (p.Pro4198Ala)
|
rs1448524579
|
|
NM_182914.3(SYNE2):c.12607G>C (p.Glu4203Gln)
|
rs1595569322
|
|
NM_182914.3(SYNE2):c.1265T>A (p.Leu422Gln)
|
|
|
NM_182914.3(SYNE2):c.15361T>C (p.Ser5121Pro)
|
|
|
NM_182914.3(SYNE2):c.19585_19605dup (p.Gly6529_Gly6535dup)
|
rs1596298521
|
|
NM_182914.3(SYNE2):c.20687C>T (p.Pro6896Leu)
|
rs936362952
|
|
NM_182914.3(SYNE2):c.2151+4A>G
|
|
|
NM_182914.3(SYNE2):c.2429C>G (p.Thr810Ser)
|
|
|
NM_182914.3(SYNE2):c.2472G>T (p.Gln824His)
|
rs760909392
|
|
NM_182914.3(SYNE2):c.3480+9del
|
rs754100176
|
|
NM_182914.3(SYNE2):c.4597G>T (p.Val1533Phe)
|
|
|
NM_182914.3(SYNE2):c.4964A>C (p.Lys1655Thr)
|
rs1594893225
|
|
NM_182914.3(SYNE2):c.7862A>G (p.Gln2621Arg)
|
rs1459579829
|
|
NM_182961.4(SYNE1):c.1014G>T (p.Gln338His)
|
|
|
NM_182961.4(SYNE1):c.10217A>T (p.Asp3406Val)
|
rs546645393
|
|
NM_182961.4(SYNE1):c.10259C>A (p.Ala3420Glu)
|
rs748911036
|
|
NM_182961.4(SYNE1):c.10597C>A (p.Arg3533Ser)
|
rs776816480
|
|
NM_182961.4(SYNE1):c.10608+6G>T
|
rs1470021286
|
|
NM_182961.4(SYNE1):c.10767_10768delinsAA (p.Thr3589_Arg3590=)
|
|
|
NM_182961.4(SYNE1):c.10855G>A (p.Glu3619Lys)
|
rs1214109688
|
|
NM_182961.4(SYNE1):c.10879C>T (p.Arg3627Cys)
|
rs149712464
|
|
NM_182961.4(SYNE1):c.10936G>A (p.Glu3646Lys)
|
|
|
NM_182961.4(SYNE1):c.10989G>C (p.Gln3663His)
|
|
|
NM_182961.4(SYNE1):c.10996C>A (p.Leu3666Met)
|
|
|
NM_182961.4(SYNE1):c.11030G>T (p.Cys3677Phe)
|
rs148028681
|
|
NM_182961.4(SYNE1):c.11089A>G (p.Ile3697Val)
|
|
|
NM_182961.4(SYNE1):c.11097C>T (p.Phe3699=)
|
rs1554520414
|
|
NM_182961.4(SYNE1):c.11341G>A (p.Gly3781Ser)
|
rs1210388961
|
|
NM_182961.4(SYNE1):c.1188C>T (p.Leu396=)
|
|
|
NM_182961.4(SYNE1):c.11892C>A (p.Ala3964=)
|
|
|
NM_182961.4(SYNE1):c.11896C>G (p.His3966Asp)
|
rs1590808195
|
|
NM_182961.4(SYNE1):c.11980T>C (p.Cys3994Arg)
|
|
|
NM_182961.4(SYNE1):c.12203G>A (p.Ser4068Asn)
|
rs1366322267
|
|
NM_182961.4(SYNE1):c.1229C>G (p.Pro410Arg)
|
|
|
NM_182961.4(SYNE1):c.12342_12350del (p.Glu4115_Thr4117del)
|
rs749906433
|
|
NM_182961.4(SYNE1):c.12351+1G>A
|
|
|
NM_182961.4(SYNE1):c.12462G>A (p.Gln4154=)
|
rs1563169531
|
|
NM_182961.4(SYNE1):c.12569A>T (p.Asn4190Ile)
|
|
|
NM_182961.4(SYNE1):c.12668G>A (p.Arg4223His)
|
|
|
NM_182961.4(SYNE1):c.12700G>A (p.Glu4234Lys)
|
|
|
NM_182961.4(SYNE1):c.12704A>T (p.Asp4235Val)
|
rs964082904
|
|
NM_182961.4(SYNE1):c.12715A>G (p.Thr4239Ala)
|
|
|
NM_182961.4(SYNE1):c.12728A>G (p.His4243Arg)
|
rs2153982032
|
|
NM_182961.4(SYNE1):c.13279C>T (p.Leu4427Phe)
|
|
|
NM_182961.4(SYNE1):c.13382C>G (p.Ala4461Gly)
|
|
|
NM_182961.4(SYNE1):c.13442A>C (p.His4481Pro)
|
rs781515191
|
|
NM_182961.4(SYNE1):c.13576G>C (p.Glu4526Gln)
|
rs372298749
|
|
NM_182961.4(SYNE1):c.13749_13751delinsGTG (p.Ile4583_Val4584delinsMetCys)
|
rs1590225545
|
|
NM_182961.4(SYNE1):c.14183A>G (p.Glu4728Gly)
|
rs2096222076
|
|
NM_182961.4(SYNE1):c.14423C>G (p.Thr4808Arg)
|
rs373040273
|
|
NM_182961.4(SYNE1):c.14423C>T (p.Thr4808Met)
|
rs373040273
|
|
NM_182961.4(SYNE1):c.14620G>A (p.Glu4874Lys)
|
|
|
NM_182961.4(SYNE1):c.14910C>T (p.Leu4970=)
|
|
|
NM_182961.4(SYNE1):c.15220A>G (p.Lys5074Glu)
|
|
|
NM_182961.4(SYNE1):c.15476T>A (p.Ile5159Asn)
|
rs1474047577
|
|
NM_182961.4(SYNE1):c.154G>A (p.Asp52Asn)
|
rs560155321
|
|
NM_182961.4(SYNE1):c.15599A>G (p.Gln5200Arg)
|
|
|
NM_182961.4(SYNE1):c.15679A>G (p.Ile5227Val)
|
|
|
NM_182961.4(SYNE1):c.15808A>G (p.Met5270Val)
|
|
|
NM_182961.4(SYNE1):c.15860C>T (p.Pro5287Leu)
|
rs758942889
|
|
NM_182961.4(SYNE1):c.15898A>T (p.Met5300Leu)
|
rs1221150819
|
|
NM_182961.4(SYNE1):c.15902A>G (p.Gln5301Arg)
|
rs2153937818
|
|
NM_182961.4(SYNE1):c.16158A>T (p.Leu5386Phe)
|
rs942561370
|
|
NM_182961.4(SYNE1):c.16236+9A>G
|
|
|
NM_182961.4(SYNE1):c.16337C>T (p.Thr5446Ile)
|
rs766875930
|
|
NM_182961.4(SYNE1):c.16349C>T (p.Ala5450Val)
|
rs181649865
|
|
NM_182961.4(SYNE1):c.16390-2A>C
|
rs759460806
|
|
NM_182961.4(SYNE1):c.16717C>G (p.Leu5573Val)
|
|
|
NM_182961.4(SYNE1):c.16909T>G (p.Phe5637Val)
|
|
|
NM_182961.4(SYNE1):c.17051C>T (p.Pro5684Leu)
|
|
|
NM_182961.4(SYNE1):c.17202G>A (p.Gln5734=)
|
|
|
NM_182961.4(SYNE1):c.17311A>G (p.Ile5771Val)
|
|
|
NM_182961.4(SYNE1):c.17612G>C (p.Ser5871Thr)
|
|
|
NM_182961.4(SYNE1):c.176A>G (p.Asp59Gly)
|
|
|
NM_182961.4(SYNE1):c.17956C>T (p.Leu5986Phe)
|
rs1044162044
|
|
NM_182961.4(SYNE1):c.18779T>A (p.Ile6260Asn)
|
|
|
NM_182961.4(SYNE1):c.19156G>A (p.Gly6386Arg)
|
|
|
NM_182961.4(SYNE1):c.19255C>A (p.Gln6419Lys)
|
rs150700669
|
|
NM_182961.4(SYNE1):c.19306A>T (p.Asn6436Tyr)
|
rs996252466
|
|
NM_182961.4(SYNE1):c.194C>A (p.Ala65Asp)
|
rs1564640922
|
|
NM_182961.4(SYNE1):c.19594G>A (p.Gly6532Arg)
|
|
|
NM_182961.4(SYNE1):c.19721T>C (p.Ile6574Thr)
|
|
|
NM_182961.4(SYNE1):c.19729C>G (p.Arg6577Gly)
|
rs368534747
|
|
NM_182961.4(SYNE1):c.19875A>G (p.Gln6625=)
|
rs752250301
|
|
NM_182961.4(SYNE1):c.20408A>T (p.Glu6803Val)
|
rs2083605476
|
|
NM_182961.4(SYNE1):c.20630T>C (p.Leu6877Pro)
|
|
|
NM_182961.4(SYNE1):c.20863-2del
|
|
|
NM_182961.4(SYNE1):c.21131G>A (p.Arg7044Lys)
|
|
|
NM_182961.4(SYNE1):c.2119G>C (p.Asp707His)
|
rs751776711
|
|
NM_182961.4(SYNE1):c.21352-7T>G
|
rs756684680
|
|
NM_182961.4(SYNE1):c.21413C>G (p.Ala7138Gly)
|
|
|
NM_182961.4(SYNE1):c.2147G>A (p.Cys716Tyr)
|
rs369355230
|
|
NM_182961.4(SYNE1):c.21523-8dup
|
rs761577958
|
|
NM_182961.4(SYNE1):c.21558C>G (p.Ser7186Arg)
|
|
|
NM_182961.4(SYNE1):c.21728G>A (p.Arg7243Lys)
|
|
|
NM_182961.4(SYNE1):c.21881G>A (p.Gly7294Asp)
|
rs1377401737
|
|
NM_182961.4(SYNE1):c.22042C>T (p.Gln7348Ter)
|
rs2079430530
|
|
NM_182961.4(SYNE1):c.22066A>G (p.Thr7356Ala)
|
|
|
NM_182961.4(SYNE1):c.22189A>G (p.Lys7397Glu)
|
|
|
NM_182961.4(SYNE1):c.22346+7T>A
|
|
|
NM_182961.4(SYNE1):c.22399A>T (p.Thr7467Ser)
|
rs2153432788
|
|
NM_182961.4(SYNE1):c.22579G>A (p.Val7527Ile)
|
rs1554568810
|
|
NM_182961.4(SYNE1):c.2264G>C (p.Arg755Thr)
|
|
|
NM_182961.4(SYNE1):c.22700G>C (p.Arg7567Pro)
|
rs769474313
|
|
NM_182961.4(SYNE1):c.22867C>T (p.Leu7623=)
|
|
|
NM_182961.4(SYNE1):c.22891C>T (p.Leu7631Phe)
|
|
|
NM_182961.4(SYNE1):c.22896_22898del (p.Leu7633del)
|
rs1360697609
|
|
NM_182961.4(SYNE1):c.22972A>G (p.Ser7658Gly)
|
rs1438394866
|
|
NM_182961.4(SYNE1):c.23020-7A>G
|
|
|
NM_182961.4(SYNE1):c.23245A>G (p.Ile7749Val)
|
|
|
NM_182961.4(SYNE1):c.23335T>G (p.Leu7779Val)
|
rs200800604
|
|
NM_182961.4(SYNE1):c.23371G>A (p.Glu7791Lys)
|
rs1587006214
|
|
NM_182961.4(SYNE1):c.23442G>A (p.Met7814Ile)
|
|
|
NM_182961.4(SYNE1):c.23443A>G (p.Ile7815Val)
|
|
|
NM_182961.4(SYNE1):c.23460+9T>C
|
|
|
NM_182961.4(SYNE1):c.2359_2360delinsAA (p.Ala787Lys)
|
rs1593187196
|
|
NM_182961.4(SYNE1):c.23686A>G (p.Ser7896Gly)
|
rs1563144720
|
|
NM_182961.4(SYNE1):c.23817C>T (p.His7939=)
|
|
|
NM_182961.4(SYNE1):c.23873_23874delinsCA (p.Asp7958Ala)
|
rs2152952645
|
|
NM_182961.4(SYNE1):c.2417T>C (p.Leu806Pro)
|
|
|
NM_182961.4(SYNE1):c.24248A>G (p.His8083Arg)
|
|
|
NM_182961.4(SYNE1):c.24249C>G (p.His8083Gln)
|
|
|
NM_182961.4(SYNE1):c.2444T>A (p.Ile815Asn)
|
|
|
NM_182961.4(SYNE1):c.24481A>G (p.Asn8161Asp)
|
rs36215251
|
|
NM_182961.4(SYNE1):c.24540G>A (p.Leu8180=)
|
|
|
NM_182961.4(SYNE1):c.245G>T (p.Arg82Leu)
|
rs143900928
|
|
NM_182961.4(SYNE1):c.24757C>G (p.Pro8253Ala)
|
rs952705892
|
|
NM_182961.4(SYNE1):c.24897G>A (p.Met8299Ile)
|
|
|
NM_182961.4(SYNE1):c.24953T>G (p.Leu8318Arg)
|
rs2059819373
|
|
NM_182961.4(SYNE1):c.24977-1796T>C
|
|
|
NM_182961.4(SYNE1):c.24986G>A (p.Ser8329Asn)
|
rs1562984305
|
|
NM_182961.4(SYNE1):c.2501T>A (p.Ile834Asn)
|
|
|
NM_182961.4(SYNE1):c.25199G>T (p.Ser8400Ile)
|
rs769976238
|
|
NM_182961.4(SYNE1):c.25435G>A (p.Glu8479Lys)
|
rs754577367
|
|
NM_182961.4(SYNE1):c.25788G>T (p.Met8596Ile)
|
rs2056760844
|
|
NM_182961.4(SYNE1):c.25800T>G (p.His8600Gln)
|
|
|
NM_182961.4(SYNE1):c.25851C>G (p.Cys8617Trp)
|
|
|
NM_182961.4(SYNE1):c.26142T>G (p.Ser8714Arg)
|
rs1562884363
|
|
NM_182961.4(SYNE1):c.26158A>T (p.Thr8720Ser)
|
|
|
NM_182961.4(SYNE1):c.26242G>C (p.Ala8748Pro)
|
|
|
NM_182961.4(SYNE1):c.26267T>C (p.Leu8756Pro)
|
|
|
NM_182961.4(SYNE1):c.2672A>G (p.His891Arg)
|
|
|
NM_182961.4(SYNE1):c.2715T>A (p.His905Gln)
|
|
|
NM_182961.4(SYNE1):c.2831G>A (p.Arg944Gln)
|
|
|
NM_182961.4(SYNE1):c.2946T>C (p.Cys982=)
|
|
|
NM_182961.4(SYNE1):c.3494G>A (p.Arg1165His)
|
rs201354687
|
|
NM_182961.4(SYNE1):c.3628T>C (p.Leu1210=)
|
rs1564088813
|
|
NM_182961.4(SYNE1):c.3731C>A (p.Ser1244Tyr)
|
|
|
NM_182961.4(SYNE1):c.3907G>A (p.Glu1303Lys)
|
|
|
NM_182961.4(SYNE1):c.3977G>A (p.Arg1326His)
|
rs371842938
|
|
NM_182961.4(SYNE1):c.403-9C>T
|
rs1170159310
|
|
NM_182961.4(SYNE1):c.439T>C (p.Ser147Pro)
|
rs2099078743
|
|
NM_182961.4(SYNE1):c.4597G>C (p.Gly1533Arg)
|
rs573641821
|
|
NM_182961.4(SYNE1):c.4690-9A>G
|
rs1249723629
|
|
NM_182961.4(SYNE1):c.4789-3T>C
|
rs1228194784
|
|
NM_182961.4(SYNE1):c.4863C>T (p.Asn1621=)
|
|
|
NM_182961.4(SYNE1):c.5356A>G (p.Ser1786Gly)
|
rs1592308081
|
|
NM_182961.4(SYNE1):c.5525T>C (p.Leu1842Pro)
|
rs1178724960
|
|
NM_182961.4(SYNE1):c.5562G>A (p.Glu1854=)
|
|
|
NM_182961.4(SYNE1):c.561G>C (p.Trp187Cys)
|
rs376693048
|
|
NM_182961.4(SYNE1):c.5715A>G (p.Ile1905Met)
|
|
|
NM_182961.4(SYNE1):c.5717A>G (p.Glu1906Gly)
|
rs2154182301
|
|
NM_182961.4(SYNE1):c.578G>A (p.Gly193Asp)
|
rs555846215
|
|
NM_182961.4(SYNE1):c.6314C>T (p.Ala2105Val)
|
rs765644702
|
|
NM_182961.4(SYNE1):c.6518G>C (p.Ser2173Thr)
|
rs747635010
|
|
NM_182961.4(SYNE1):c.661C>A (p.Arg221=)
|
rs750266004
|
|
NM_182961.4(SYNE1):c.6745T>C (p.Leu2249=)
|
rs1563754171
|
|
NM_182961.4(SYNE1):c.7187G>A (p.Cys2396Tyr)
|
|
|
NM_182961.4(SYNE1):c.7345C>T (p.Leu2449Phe)
|
rs757562714
|
|
NM_182961.4(SYNE1):c.7369A>G (p.Ser2457Gly)
|
|
|
NM_182961.4(SYNE1):c.7378C>A (p.Gln2460Lys)
|
|
|
NM_182961.4(SYNE1):c.7898T>G (p.Leu2633Arg)
|
|
|
NM_182961.4(SYNE1):c.7996C>A (p.Gln2666Lys)
|
rs577888458
|
|
NM_182961.4(SYNE1):c.8104G>A (p.Val2702Met)
|
rs2097589904
|
|
NM_182961.4(SYNE1):c.8149A>G (p.Ile2717Val)
|
|
|
NM_182961.4(SYNE1):c.82G>A (p.Val28Ile)
|
|
|
NM_182961.4(SYNE1):c.8321A>G (p.Asp2774Gly)
|
|
|
NM_182961.4(SYNE1):c.8389T>G (p.Ser2797Ala)
|
|
|
NM_182961.4(SYNE1):c.8513T>C (p.Ile2838Thr)
|
|
|
NM_182961.4(SYNE1):c.8593C>G (p.Arg2865Gly)
|
rs757720748
|
|
NM_182961.4(SYNE1):c.8607G>A (p.Met2869Ile)
|
|
|
NM_182961.4(SYNE1):c.869C>G (p.Thr290Ser)
|
|
|
NM_182961.4(SYNE1):c.8865G>T (p.Glu2955Asp)
|
|
|
NM_182961.4(SYNE1):c.902G>A (p.Gly301Asp)
|
|
|
NM_182961.4(SYNE1):c.909A>G (p.Pro303=)
|
|
|
NM_182961.4(SYNE1):c.9103A>G (p.Thr3035Ala)
|
rs1190085053
|
|
NM_182961.4(SYNE1):c.9138G>T (p.Glu3046Asp)
|
rs1591450086
|
|
NM_182961.4(SYNE1):c.9277A>G (p.Ile3093Val)
|
|
|
NM_182961.4(SYNE1):c.9401T>C (p.Leu3134Pro)
|
rs1563476322
|
|
NM_182961.4(SYNE1):c.9495A>C (p.Glu3165Asp)
|
rs6913579
|
|
NM_182961.4(SYNE1):c.9516G>T (p.Lys3172Asn)
|
|
|
NM_182961.4(SYNE1):c.9528G>A (p.Lys3176=)
|
|
|
NM_182961.4(SYNE1):c.9607C>T (p.Leu3203Phe)
|
|
|
NM_182961.4(SYNE1):c.9738C>G (p.Ala3246=)
|
rs140123292
|
|
NM_182961.4(SYNE1):c.9785T>C (p.Leu3262Pro)
|
rs1183260471
|
|
NM_194248.3(OTOF):c.2215-125A>G
|
rs750259905
|
|
NM_194248.3(OTOF):c.3080A>G (p.Asp1027Gly)
|
|
|
NM_198578.4(LRRK2):c.2299C>T (p.Arg767Cys)
|
|
|
NM_198578.4(LRRK2):c.6903G>A (p.Met2301Ile)
|
|
|
NM_198586.3(NHLRC1):c.224G>C (p.Cys75Ser)
|
|
|
NM_198586.3(NHLRC1):c.820G>A (p.Gly274Arg)
|
rs568213488
|
|
NM_198859.4(PRICKLE2):c.1134G>T (p.Met378Ile)
|
rs368695262
|
|
NM_198859.4(PRICKLE2):c.1322T>A (p.Met441Lys)
|
rs770462303
|
|
NM_198994.3(TGM6):c.1021G>A (p.Ala341Thr)
|
rs780209863
|
|
NM_198994.3(TGM6):c.1063C>A (p.Leu355Met)
|
|
|
NM_198994.3(TGM6):c.109T>A (p.Ser37Thr)
|
rs2084649513
|
|
NM_198994.3(TGM6):c.1133G>A (p.Arg378His)
|
rs756051299
|
|
NM_198994.3(TGM6):c.1150C>T (p.Leu384=)
|
|
|
NM_198994.3(TGM6):c.1171G>C (p.Val391Leu)
|
|
|
NM_198994.3(TGM6):c.11del (p.Ile4fs)
|
rs1218671148
|
|
NM_198994.3(TGM6):c.1337-7C>A
|
rs1239255276
|
|
NM_198994.3(TGM6):c.1343G>A (p.Arg448Gln)
|
|
|
NM_198994.3(TGM6):c.1429_1430insCTGTCTCTGGCGTGACGACCTC (p.Gly477fs)
|
rs766605124
|
|
NM_198994.3(TGM6):c.1430_1439del (p.Gly477fs)
|
rs760886419
|
|
NM_198994.3(TGM6):c.1431G>A (p.Gly477=)
|
rs373549904
|
|
NM_198994.3(TGM6):c.1433_1464dup (p.Pro489fs)
|
rs1599961411
|
|
NM_198994.3(TGM6):c.1556A>G (p.Asn519Ser)
|
rs374219808
|
|
NM_198994.3(TGM6):c.1567C>T (p.Arg523Trp)
|
|
|
NM_198994.3(TGM6):c.1576C>G (p.Arg526Gly)
|
|
|
NM_198994.3(TGM6):c.1593G>T (p.Leu531=)
|
rs1236088442
|
|
NM_198994.3(TGM6):c.1800G>C (p.Lys600Asn)
|
rs2122442359
|
|
NM_198994.3(TGM6):c.1882G>T (p.Val628Leu)
|
rs1162119013
|
|
NM_198994.3(TGM6):c.20C>A (p.Thr7Asn)
|
|
|
NM_198994.3(TGM6):c.229T>C (p.Ser77Pro)
|
rs1568656099
|
|
NM_198994.3(TGM6):c.230C>T (p.Ser77Leu)
|
|
|
NM_198994.3(TGM6):c.410A>G (p.Asn137Ser)
|
rs1568656289
|
|
NM_198994.3(TGM6):c.427G>A (p.Asp143Asn)
|
rs1568656906
|
|
NM_198994.3(TGM6):c.51_56delinsTGGGTACT (p.Ala18fs)
|
rs2122345234
|
|
NM_198994.3(TGM6):c.543+1G>T
|
|
|
NM_198994.3(TGM6):c.841del (p.Leu281fs)
|
rs1555799865
|
|
NM_198994.3(TGM6):c.955C>T (p.Arg319Trp)
|
rs572902669
|
|
NM_198994.3(TGM6):c.97C>T (p.Arg33Cys)
|
rs147548610
|
|
NM_198999.3(SLC26A5):c.790G>A (p.Val264Ile)
|
|
|
NM_201378.4(PLEC):c.71-11926A>T
|
|
|
NM_201378.4(PLEC):c.71-11933A>C
|
|
|
NM_201378.4(PLEC):c.71-3711_71-3639delinsAC
|
rs1564189462
|
|
NM_201378.4(PLEC):c.71-3767_71-3737del
|
rs782134237
|
|
NM_201378.4(PLEC):c.71-5976C>T
|
rs782207101
|
|
NM_201384.3(PLEC):c.10039G>A (p.Val3347Met)
|
rs782748769
|
|
NM_201384.3(PLEC):c.10469A>G (p.Gln3490Arg)
|
|
|
NM_201384.3(PLEC):c.11364G>A (p.Lys3788=)
|
rs782618512
|
|
NM_201384.3(PLEC):c.1249G>A (p.Ala417Thr)
|
rs781879136
|
|
NM_201384.3(PLEC):c.1263+7_1263+10delinsCAGTCGGTGAGGCAGCAGTCG
|
rs1064794978
|
|
NM_201384.3(PLEC):c.13208C>T (p.Pro4403Leu)
|
rs781860439
|
|
NM_201384.3(PLEC):c.13356C>T (p.Arg4452=)
|
|
|
NM_201384.3(PLEC):c.1349G>A (p.Arg450Gln)
|
|
|
NM_201384.3(PLEC):c.1418+5G>T
|
|
|
NM_201384.3(PLEC):c.1738-9C>T
|
|
|
NM_201384.3(PLEC):c.176C>T (p.Ala59Val)
|
rs530919504
|
|
NM_201384.3(PLEC):c.1834C>A (p.Leu612Ile)
|
|
|
NM_201384.3(PLEC):c.2269_2274dup (p.Val757_Thr758dup)
|
rs1827261502
|
|
NM_201384.3(PLEC):c.2847G>A (p.Glu949=)
|
rs1169421274
|
|
NM_201384.3(PLEC):c.3028_3033dup (p.Pro1010_Leu1011dup)
|
rs782308502
|
|
NM_201384.3(PLEC):c.3105G>T (p.Gly1035=)
|
|
|
NM_201384.3(PLEC):c.3595C>G (p.Gln1199Glu)
|
rs1564083000
|
|
NM_201384.3(PLEC):c.3778C>T (p.Arg1260Cys)
|
rs151022876
|
|
NM_201384.3(PLEC):c.4146_4157del (p.Lys1383_Ala1386del)
|
|
|
NM_201384.3(PLEC):c.4286C>T (p.Ser1429Leu)
|
|
|
NM_201384.3(PLEC):c.4576G>A (p.Glu1526Lys)
|
|
|
NM_201384.3(PLEC):c.6169_6170delinsAT (p.Ala2057Met)
|
rs1564026689
|
|
NM_201384.3(PLEC):c.6658G>A (p.Ala2220Thr)
|
|
|
NM_201384.3(PLEC):c.7370G>C (p.Arg2457Pro)
|
rs199504105
|
|
NM_201384.3(PLEC):c.7513C>T (p.Arg2505Trp)
|
rs782284017
|
|
NM_201384.3(PLEC):c.7540G>A (p.Ala2514Thr)
|
rs1304886778
|
|
NM_201384.3(PLEC):c.7652G>A (p.Ser2551Asn)
|
rs782184912
|
|
NM_201384.3(PLEC):c.7717C>A (p.Leu2573Met)
|
rs1564000724
|
|
NM_201384.3(PLEC):c.8820C>T (p.Asp2940=)
|
rs58308209
|
|
NM_201384.3(PLEC):c.8873TCA[2] (p.Ile2960del)
|
rs1586830080
|
|
NM_201384.3(PLEC):c.9120C>T (p.Ile3040=)
|
|
|
NM_201384.3(PLEC):c.9409C>G (p.Gln3137Glu)
|
rs1822186323
|
|
NM_201384.3(PLEC):c.9490G>C (p.Asp3164His)
|
rs782682146
|
|
NM_201525.4(ADGRG1):c.1007A>G (p.Gln336Arg)
|
rs2045608336
|
|
NM_203446.3(SYNJ1):c.3140G>A (p.Arg1047Gln)
|
|
|
NM_203446.3(SYNJ1):c.3278C>T (p.Pro1093Leu)
|
rs1326671091
|
|
NM_203446.3(SYNJ1):c.384T>C (p.Phe128=)
|
rs746811167
|
|
NM_203446.3(SYNJ1):c.528T>A (p.Asp176Glu)
|
rs1277503442
|
|
NM_206933.4(USH2A):c.10284A>G (p.Ile3428Met)
|
rs1571686105
|
|
NM_207346.3(TSEN54):c.1039_1041delinsTAC (p.Lys347Tyr)
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rs1568003520
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NM_207346.3(TSEN54):c.1130G>T (p.Ser377Ile)
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NM_207346.3(TSEN54):c.1183C>G (p.Arg395Gly)
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rs572964665
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NM_213599.3(ANO5):c.1222C>T (p.Leu408=)
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rs997655691
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NM_213599.3(ANO5):c.1606A>T (p.Ile536Leu)
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NM_213599.3(ANO5):c.1856C>A (p.Thr619Asn)
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rs1554931947
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NM_213599.3(ANO5):c.1959T>G (p.Ser653Arg)
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NM_213599.3(ANO5):c.2648A>G (p.Lys883Arg)
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NM_213599.3(ANO5):c.265_267delinsTAC (p.Asp89Tyr)
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rs2133588821
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NM_213599.3(ANO5):c.2741A>G (p.Ter914=)
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NM_213599.3(ANO5):c.618CTT[1] (p.Phe208del)
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rs774304728
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Single allele
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m.4295A>G
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rs121434467
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